id category name description provided_by synonym 0000114 0000231 0000233 0000234 0000424 0000589 0000700 0006012 0100001 :http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl :http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg :http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg :http://geneontology.org/formats/oboInOwl#created_by :https://w3id.org/biodatamodels/gff/end :https://w3id.org/biodatamodels/gff/start BFO_CLIF_specification_label BFO_OWL_specification_label Date P371 alternative_term close_match comment consider created_by creation_date creator curator_note definition_source deprecated editor_note editor_preferred_term elucidation example_of_usage genome_build has_alternative_id has_associated_axiom(fol) has_associated_axiom(nl) has_o_b_o_format_version has_o_b_o_namespace has_synonym homepage imported_from in_subset is_class_level is_metadata_tag knowledge_source license logical_interpretation mondo#excluded_synonym mondo#pathogenesis mondo#related object predicate prior_version relation see_also shorthand source subject term_editor type MONDO:0033640 biolink:NamedThing vitamin D-dependent rickets, type 3 tmpte7i6ely_mondo_relaxed.owl VDDR3 OMIM:619073 owl:Class MONDO:0024299 biolink:NamedThing vitamin D-dependent rickets tmpte7i6ely_mondo_relaxed.owl VDDR UMLS:C0221468|SCTID:68295002 owl:Class MONDO:0008611 biolink:NamedThing humerus trochlea aplasia Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. tmpte7i6ely_mondo_relaxed.owl trochlea of the humerus aplasia of|aplasia of trochlea of the humerus|trochlea of the HUMERUS, aplasia OF UMLS:C1860773|ICD10:Q74.0|OMIM:191000|Orphanet:3383|GARD:0002750|SCTID:732928005|MESH:C566022 https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of owl:Class MONDO:0019054 biolink:NamedThing congenital limb malformation tmpte7i6ely_mondo_relaxed.owl congenital limb malformation Orphanet:68378 owl:Class UBERON:0035034 biolink:NamedThing eyelid epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015808 biolink:NamedThing eye epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004588 biolink:NamedThing night blindness Inability to see clearly in dim light. tmpte7i6ely_mondo_relaxed.owl nyctalopia NCIT:C37997|ICD9:368.6|SCTID:65194006|UMLS:C0028077|ICD10:H53.60|MESH:D009755|ICD10:H53.6|ICD9:368.69|ICD9:368.60|NCIT:C34850|DOID:8499 owl:Class MONDO:0001941 biolink:NamedThing blindness (disorder) The lack of vision. It is caused by neurological or physiological factors. tmpte7i6ely_mondo_relaxed.owl blindness|vision impairment|visual impairment|vision loss ICD10:H54|DOID:1432|SCTID:105597003|ICD9:369|NCIT:C97109|MESH:D001766 owl:Class MONDO:0020729 biolink:NamedThing autosomal recessive agammaglobulinemia 1 tmpte7i6ely_mondo_relaxed.owl autosomal recessive agammaglobulinemia 1|agammaglobulinemia, autosomal recessive, due to IGHM defect|agammaglobulinemia 1, autosomal recessive|AGM1 Orphanet:33110|OMIM:601495|Orphanet:229717 owl:Class MONDO:0011096 biolink:NamedThing autosomal agammaglobulinemia Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. tmpte7i6ely_mondo_relaxed.owl AGM|agammaglobulinemia, autosomal recessive, due to IGHM defect|agammaglobulinemia, non-Bruton type Orphanet:33110|GARD:0009640|MESH:C538056|OMIM:613506|OMIM:612692|OMIM:615214|OMIM:613502|OMIM:613500|OMIM:616941|OMIM:613501|ICD10:D80.0|UMLS:C1832241|OMIM:601495|Orphanet:229717 owl:Class MONDO:0008859 biolink:NamedThing berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification tmpte7i6ely_mondo_relaxed.owl berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification|cerebral aneurysm-cirrhosis syndrome UMLS:C1859519|MESH:C565905|OMIM:210050|GARD:0008552 https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification owl:Class MONDO:0003847 biolink:NamedThing Mendelian disease A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. tmpte7i6ely_mondo_relaxed.owl hereditary diseases|genetic condition|familial disorder|genetic disease|molecular disease|inherited genetic disease|inherited disease|hereditary disease|inborn disorder|hereditary disease or disorder|genetic disorder UMLS:C0019247|NCIT:C3101|DOID:630|EFO:0000508|MESH:D030342|SCTID:32895009|ICD9:799.89 Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. owl:Class MONDO:0014314 biolink:NamedThing sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome tmpte7i6ely_mondo_relaxed.owl SAVA|sacral agenesis with vertebral anomalies UMLS:C3810343|ICD10:Q87.5|Orphanet:397927|OMIM:615709 owl:Class MONDO:0018075 biolink:NamedThing neural tube defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. tmpte7i6ely_mondo_relaxed.owl NTD|spinal dysraphism MESH:D009436|DOID:0080074|NCIT:C84923|Orphanet:3388|SCTID:253098009|ICD9:742.8|OMIM:601634|OMIM:301410 owl:Class HP:0001649 biolink:NamedThing Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age. tmpte7i6ely_mondo_relaxed.owl Rapid heart beat|Increased heart rate|Fast heart rate|Heart racing|Racing heart|Elevated heart rate MSH:D013610|UMLS:C4020868|SNOMEDCT_US:3424008|SNOMEDCT_US:86651002|UMLS:C0039231 HP:0001673|HP:0001720 human_phenotype owl:Class HP:0011675 biolink:NamedThing Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. tmpte7i6ely_mondo_relaxed.owl Cardiac rhythm disturbances|Arrhythmias|Cardiac arrhythmia|Heart rhythm disorders|Abnormal heart rate|Irregular heart beat|Cardiac arrhythmias|Irregular heartbeat SNOMEDCT_US:698247007|UMLS:C1832603|SNOMEDCT_US:44808001|UMLS:C0522055|SNOMEDCT_US:102594003|MSH:C562490|MSH:D001145|UMLS:C1842820|UMLS:C0264886|UMLS:C0003811|UMLS:C0855329 peter 2012-04-09T12:47:32Z HP:0001687|HP:0001656|HP:0001661|HP:0001666|HP:0001675|HP:0005158|HP:0001665|HP:0001721|HP:0004351 human_phenotype owl:Class MONDO:0015458 biolink:NamedThing intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag SCTID:722455002|GARD:0012487|Orphanet:1495|ICD10:Q87.8|UMLS:CN199578 owl:Class MONDO:0019117 biolink:NamedThing genetic nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic nervous system disorder|rare genetic neurological disorder|genetic neurological disorder Orphanet:71859|UMLS:CN205639 owl:Class HGNC:1494 biolink:NamedThing ALX1 tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000704 biolink:NamedThing gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. tmpte7i6ely_mondo_relaxed.owl INSDC_feature:gene owl:Class MONDO:0004485 biolink:NamedThing interstitial myocarditis Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present. tmpte7i6ely_mondo_relaxed.owl SCTID:37925008|DOID:817|NCIT:C35786|UMLS:C0027060 owl:Class MONDO:0004496 biolink:NamedThing myocarditis Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. tmpte7i6ely_mondo_relaxed.owl myocardial inflammation|inflammation of myocardium|myocardium inflammation|myocardial inflammation (finding) ICD10:I40|KEGG:05416|UMLS:C0027059|GARD:0007137|ICD9:429.0|ICD10:I51.4|DOID:820|MESH:D009205|NCIT:C34831|SCTID:50920009 https://rarediseases.info.nih.gov/diseases/7137/myocarditis owl:Class MONDO:0012959 biolink:NamedThing psoriasis 11, susceptibility to tmpte7i6ely_mondo_relaxed.owl psoriasis 11, susceptibility to|PSORS11 OMIM:612599|DOID:0111285 owl:Class MONDO:0005083 biolink:NamedThing psoriasis An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. tmpte7i6ely_mondo_relaxed.owl SCTID:9014002|ICD9:696.8|OMIM:612410|ICD9:696.5|OMIM:603935|MESH:D011565|UMLS:C0033860|OMIM:612950|OMIM:605364|ICD10:L40|OMIM:605606|OMIM:614070|OMIM:610707|OMIM:607857|ICD9:696|GARD:0010262|OMIM:604316|OMIM:602723|OMIMPS:177900|OMIM:177900|DOID:8893|ICD9:696.1|ICD10:L40.9|EFO:0000676|NCIT:C3346|OMIM:601454|OMIM:612599 owl:Class MONDO:0014027 biolink:NamedThing hypotrichosis 11 Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene. tmpte7i6ely_mondo_relaxed.owl hypt11|HYPT11|hypotrichosis 11|hypotrichosis type 11|hypotrichosis caused by mutation in SNRPE|SNRPE hypotrichosis OMIM:615059|UMLS:C3554409|DOID:0110708|Orphanet:55654 owl:Class MONDO:0021034 biolink:NamedThing genetic alopecia An instance of alopecia that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic alopecia Orphanet:481771 owl:Class MONDO:0020093 biolink:NamedThing autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant form of isolated diffuse palmoplantar keratoderma. tmpte7i6ely_mondo_relaxed.owl autosomal dominant isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal dominant UMLS:CN229268|ICD10:Q82.8|Orphanet:98349 owl:Class MONDO:0017667 biolink:NamedThing isolated diffuse palmoplantar keratoderma A diffuse palmoplantar keratoderma that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated diffuse palmoplantar hyperkeratosis|nonsyndromic diffuse palmoplantar keratoderma|isolated diffuse keratosis palmoplantaris|isolated diffuse PPK ICD10:Q82.8|Orphanet:307148|UMLS:C0022584 owl:Class MONDO:0000232 biolink:NamedThing Flinders island spotted fever A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy. tmpte7i6ely_mondo_relaxed.owl FISF|Thai tick typhus DOID:0050047|UMLS:C4505102 owl:Class MONDO:0001195 biolink:NamedThing spotted fever A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia. tmpte7i6ely_mondo_relaxed.owl spotted fever group rickettsial disease|fever, spotted|spotted fever Group rickettsiosis|spotted fever|fevers, spotted|spotted fever rickettsiae disease|spotted fever rickettsiosis|spotted fevers|spotted fever Group Rickettsioses Orphanet:102022|ICD10:A77.0|GARD:0004998|ICD10:A77.3|ICD10:A77.8|ICD9:082.0|ICD10:A77|DOID:11104|ICD10:A77.9|ICD10:A77.2|UMLS:C0038041|ICD9:083.8|MEDGEN:11567|SCTID:186771002|ICD10:A77.1 https://rarediseases.info.nih.gov/diseases/4998/spotted-fever owl:Class MONDO:0010916 biolink:NamedThing polycystic kidney disease 3 with or without polycystic liver disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. tmpte7i6ely_mondo_relaxed.owl GANAB autosomal dominant polycystic kidney disease|Apkd3|polycystic kidney disease, type 3|polycystic kidney disease type 3|polycystic kidney disease, adult, type III|PKD3|polycystic kidney disease, adult, type 3|polycystic kidney disease 3, autosomal dominant|polycystic kidney disease 3 with or without polycystic liver disease|polycystic kidney disease 3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|Pkd3 UMLS:C3887964|DOID:0110860|OMIM:600666|Orphanet:730 owl:Class MONDO:0004691 biolink:NamedThing autosomal dominant polycystic kidney disease Autosomal dominant form of polycystic kidney disease. tmpte7i6ely_mondo_relaxed.owl ADPKD|polycystic kidney disease, autosomal dominant|congenital biliary ectasias|autosomal dominant polycystic kidney disease ICD10:Q61.3|SCTID:765330003|Orphanet:730|UMLS:C0085413|UMLS:CN119611|GARD:0010413|ICD9:753.13|EFO:1001496|NCIT:C84578|ICD9:753.12|DOID:898|MESH:D016891 owl:Class GO:0048871 biolink:NamedThing multicellular organismal homeostasis Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032501 biolink:NamedThing multicellular organismal process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. tmpte7i6ely_mondo_relaxed.owl single-multicellular organism process|organismal physiological process owl:Class MONDO:0007351 biolink:NamedThing coloboma of macula Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. tmpte7i6ely_mondo_relaxed.owl agenesis of macula|hereditary macular coloboma (subtype)|macular coloboma|coloboma of macula OMIM:120300|GARD:0001436|ICD10:Q14.8|Orphanet:98945 owl:Class MONDO:0001476 biolink:NamedThing coloboma An abnormality in which a part of a structure in one or both eyes is missing. tmpte7i6ely_mondo_relaxed.owl coloboma of macula|congenital ocular coloboma|coloboma of eye|coloboma of the eye|ocular coloboma Orphanet:194|Orphanet:98945|DOID:12270|OMIM:216820|OMIM:120300|SCTID:93390002|NCIT:C98877|OMIM:120200|ICD9:743.49|MESH:D003103|ICD10:Q13.0 owl:Class MONDO:0015233 biolink:NamedThing caudal appendage-deafness syndrome Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. tmpte7i6ely_mondo_relaxed.owl caudal appendage deafness|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability|caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation|Lynch-Lee-Murday syndrome|Lynch Lee Murday syndrome Orphanet:1123|UMLS:C2931593|MESH:C537713|GARD:0001163|SCTID:726621009 https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness owl:Class MONDO:0015159 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-intellectual disability tmpte7i6ely_mondo_relaxed.owl multiple congenital anomalies-intellectual disability with or without dysmorphism|MCA/MR|multiple congenital anomalies/dysmorphic syndrome-intellectual disability Orphanet:102283|UMLS:CN228396 owl:Class UBERON:0000423 biolink:NamedThing eccrine sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010243 biolink:NamedThing merocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009087 biolink:NamedThing methionine catabolic process The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpte7i6ely_mondo_relaxed.owl methionine breakdown|methionine degradation|methionine catabolism owl:Class GO:0009063 biolink:NamedThing cellular amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents. tmpte7i6ely_mondo_relaxed.owl cellular amino acid breakdown|cellular amino acid degradation|cellular amino acid catabolism|amino acid catabolic process owl:Class GO:0006355 biolink:NamedThing regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. tmpte7i6ely_mondo_relaxed.owl regulation of cellular transcription, DNA-dependent|regulation of gene-specific transcription|transcriptional control|regulation of transcription, DNA-dependent owl:Class GO:2000112 biolink:NamedThing regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of cellular macromolecule anabolism|regulation of cellular biopolymer biosynthetic process|regulation of cellular macromolecule biosynthesis|regulation of cellular macromolecule synthesis|regulation of cellular macromolecule formation owl:Class MONDO:0001837 biolink:NamedThing acute gonococcal salpingitis Acute form of gonococcal salpingitis. tmpte7i6ely_mondo_relaxed.owl gonococcal salpingitis, specified as acute|gonococcal salpingitis, acute SCTID:45377007|ICD9:098.17|DOID:13942|UMLS:C0275654 owl:Class MONDO:0021159 biolink:NamedThing gonococcal salpingitis An salpingitis caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl Neisseria gonorrhoeae caused salpingitis|Neisseria gonorrhoeae salpingitis UMLS:C0341811|SCTID:237038001 owl:Class MONDO:0007943 biolink:NamedThing Nager acrofacial dysostosis Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. tmpte7i6ely_mondo_relaxed.owl Nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|Nager acrofacial dysostosis|preaxial acrodysostosis|preaxial manibulofacial dysostosis|Nager acrofacial dysostosis syndrome|preaxial acrofacial dysostosis|split hand deformity-mandibulofacial dysostosis|AFD1|acrofacial dysostosis 1, Nager type|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|AFD|AFD, Nager type|NAFD NCIT:C35795|MESH:C538184|OMIM:154400|DOID:5768|Orphanet:245|UMLS:C0265245|ICD10:Q75.4|SCTID:35520007|UMLS:C1332140|GARD:0000498 https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis owl:Class MONDO:0015334 biolink:NamedThing branchial arch or oral-acral syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:139036|UMLS:CN199364 owl:Class GO:1900131 biolink:NamedThing negative regulation of lipid binding Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding. tmpte7i6ely_mondo_relaxed.owl inhibition of lipid binding|down-regulation of lipid binding|downregulation of lipid binding|down regulation of lipid binding owl:Class GO:0065007 biolink:NamedThing biological regulation Any process that modulates a measurable attribute of any biological process, quality or function. tmpte7i6ely_mondo_relaxed.owl regulation owl:Class UBERON:0002051 biolink:NamedThing epithelium of bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000115 biolink:NamedThing lung epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002414 biolink:NamedThing gastric hemangioma A hemangioma arising from the stomach. tmpte7i6ely_mondo_relaxed.owl gastric angioma|gastric hemangioma|hemangioma of stomach|hemangioma of the stomach|stomach hemangioma|angioma of the stomach|angioma of stomach UMLS:C1333770|DOID:275|NCIT:C5481 owl:Class MONDO:0006500 biolink:NamedThing hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. tmpte7i6ely_mondo_relaxed.owl hemangioma, benign|angioma|benign hemangioma|hemangioma|benign angioma SCTID:400210000|NCIT:C3085|ICD10:D18.00|ICD9:228.00|GARD:0010759|MESH:D006391|ICDO:9120/0|DOID:255|ICD10:D18.0|HP:0001028|ONCOTREE:HEMA|EFO:1000635|ICD9:228.09|ICD9:228.0|UMLS:C0018916 owl:Class GO:2000856 biolink:NamedThing negative regulation of mineralocorticoid secretion Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000847 biolink:NamedThing negative regulation of corticosteroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl negative regulation of corticosteroid secretion owl:Class HP:0030163 biolink:NamedThing Abnormal vascular physiology Abnormality of vascular function. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022603 human_phenotype owl:Class HP:0011025 biolink:NamedThing Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl Abnormality of cardiovascular system physiology UMLS:C4023587 peter 2011-03-03T10:23:19Z human_phenotype owl:Class MONDO:0016147 biolink:NamedThing qualitative or quantitative defects of dystrophin tmpte7i6ely_mondo_relaxed.owl dystrophinopathy UMLS:CN043595|Orphanet:207085 owl:Class MONDO:0016139 biolink:NamedThing qualitative or quantitative protein defects in neuromuscular diseases tmpte7i6ely_mondo_relaxed.owl UMLS:CN200901|Orphanet:207049 owl:Class MONDO:0006039 biolink:NamedThing infectious colitis A viral or bacterial infectious process affecting the large intestine. tmpte7i6ely_mondo_relaxed.owl infectious colitis NCIT:C78359|SCTID:39341005|UMLS:C0277524|EFO:1000035 owl:Class MONDO:0005292 biolink:NamedThing colitis Inflammation of the colon. tmpte7i6ely_mondo_relaxed.owl colitis|colon inflammation|colitis (disease)|inflammation of colon colitis (disease) DOID:0060180|OMIM:191390|SCTID:64226004|HP:0002583|MESH:D003092|ICD10:K52.9|UMLS:C0009319|EFO:0003872|ICD9:558.9|NCIT:C26723 owl:Class MONDO:0011975 biolink:NamedThing paternal uniparental disomy of chromosome 14 tmpte7i6ely_mondo_relaxed.owl UPD(14)pat|paternal uniparental disomy of chromosome 14|uniparental disomy, paternal, chromosome 14|KAGAMI-Ogata syndrome|paternal uniparental disomy of chromosome type 14|paternal uniparental disomy 14 UMLS:C1842466|Orphanet:96334|GARD:0005409|ICD10:Q99.8|Orphanet:254519|MESH:C536471|OMIM:608149 https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14 owl:Class MONDO:0016779 biolink:NamedThing multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. tmpte7i6ely_mondo_relaxed.owl MCA due to 14q32.2 maternally expressed gene defect Orphanet:254519|DOID:0111712|OMIM:608149 owl:Class HGNC:8952 biolink:NamedThing SERPINB8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051460 biolink:NamedThing negative regulation of corticotropin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. tmpte7i6ely_mondo_relaxed.owl negative regulation of adrenotropic hormone secretion|down-regulation of adrenocorticotropin secretion|negative regulation of adrenotropin secretion|negative regulation of corticotropic hormone secretion|down regulation of adrenocorticotropin secretion|downregulation of adrenocorticotropin secretion|inhibition of adrenocorticotropin secretion|negative regulation of adrenocorticotropic hormone secretion|negative regulation of adrenocorticotropin secretion|negative regulation of ACTH secretion owl:Class GO:0051459 biolink:NamedThing regulation of corticotropin secretion Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. tmpte7i6ely_mondo_relaxed.owl regulation of ACTH secretion|regulation of adrenocorticotropic hormone secretion|regulation of corticotropic hormone secretion|regulation of adrenotropin hormone secretion|regulation of adrenotropin secretion|regulation of adrenocorticotropin secretion owl:Class UBERON:0002682 biolink:NamedThing abducens nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009662 biolink:NamedThing hindbrain nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048581 biolink:NamedThing negative regulation of post-embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpte7i6ely_mondo_relaxed.owl down-regulation of post-embryonic development|inhibition of post-embryonic development|downregulation of post-embryonic development|down regulation of post-embryonic development owl:Class GO:0048580 biolink:NamedThing regulation of post-embryonic development Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016818 biolink:NamedThing hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides Catalysis of the hydrolysis of any acid anhydride which contains phosphorus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016817 biolink:NamedThing hydrolase activity, acting on acid anhydrides Catalysis of the hydrolysis of any acid anhydride. tmpte7i6ely_mondo_relaxed.owl hydrolase activity, acting on acid anhydrides, involved in cellular and subcellular movement owl:Class MONDO:0032842 biolink:NamedThing siddiqi syndrome tmpte7i6ely_mondo_relaxed.owl SIDDIQI SYNDROME|SIDDIS|Deafness, Dystonia, Developmental Delay, and Poor Growth OMIM:618635 owl:Class MONDO:0030913 biolink:NamedThing intellectual disability, autosomal dominant 48 tmpte7i6ely_mondo_relaxed.owl microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|mental retardation, autosomal dominant 48|autosomal dominant intellectual disability 48|MRD48|autosomal dominant mental retardation 48|intellectual disability, autosomal dominant 48 EFO:0009156|OMIM:617751|Orphanet:500159|UMLS:CN580791|DOID:0080235 owl:Class MONDO:0043005 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 owl:Class MONDO:0006180 biolink:NamedThing digestive system adenoma A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation. tmpte7i6ely_mondo_relaxed.owl GI adenoma|digestive tract adenoma|digestive system adenoma|gastrointestinal adenoma UMLS:C0948101|EFO:1000217|DOID:4147|NCIT:C36207 owl:Class MONDO:0021223 biolink:NamedThing digestive system neoplasm A neoplasm (disease) that involves the digestive system. tmpte7i6ely_mondo_relaxed.owl gastrointestinal system neoplasm|GI tumor|gastrointestinal neoplasm|digestive system tumor|tumor of GI system|gastrointestinal tumor|tumor of the gastrointestinal system|tumor of gastrointestinal system|tumor of the GI system|digestive system neoplasm (disease)|GI system tumor|digestive neoplasm|GI system neoplasm|tumor of the digestive system|GI neoplasm|neoplasm of GI system|tumor of digestive system|neoplasm of digestive system|neoplasm of gastrointestinal system|neoplasm of the gastrointestinal system|digestive tumor|neoplasm of the digestive system|neoplasm of the GI system|gastrointestinal system tumor MESH:D005770|NCIT:C3052|EFO:0008549 owl:Class MONDO:0019046 biolink:NamedThing leukodystrophy Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. tmpte7i6ely_mondo_relaxed.owl HLD|hypomyelinating leukodystrophy|leukodystrophy, hypomyelinating|hypomyelinating leukoencephalopathy GARD:0006895|ICD9:330.0|DOID:0060786|UMLS:C0023520|SCTID:192781003|UMLS:CN228461|DOID:10579|DOID:0050987|ICD10:E75.2|NCIT:C61253|OMIMPS:312080|Orphanet:68356|MedDRA:10024381 Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy owl:Class MONDO:0024237 biolink:NamedThing inherited neurodegenerative disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. tmpte7i6ely_mondo_relaxed.owl hereditary neurodegenerative disorder|hereditary neurodegenerative disease|genetic neurodegenerative disease Orphanet:183500|MESH:D020271|NCIT:C97073|UMLS:C3273225|UMLS:CN200549 owl:Class MONDO:0018770 biolink:NamedThing Jeune syndrome Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. tmpte7i6ely_mondo_relaxed.owl thoracic pelvic phalangeal dystrophy|short-rib thoracic dysplasia with or without polydactyly|infantile thoracic dystrophy|Jeune syndrome|asphyxiating thoracic dystrophy of the newborn|asphyxiating thoracic dystrophy|Chondroectodermal dysplasia-like syndrome|JATD|ATD|Jeune's syndrome|short-rib thoracic dysplasia|Jeune asphyxiating thoracic dystrophy OMIM:613819|MedDRA:10057621|ICD10:Q77.2|OMIM:615630|SCTID:75049004|MESH:C537571|OMIM:208500|OMIM:617088|OMIMPS:208500|OMIM:614376|DOID:0050592|NCIT:C84794|OMIM:616300|UMLS:C0265275|OMIM:613091|Orphanet:474|OMIM:611263|OMIM:615633|GARD:0003049 owl:Class MONDO:0022409 biolink:NamedThing nephropathy-associated ciliopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:156162 owl:Class MONDO:0013862 biolink:NamedThing immunodeficiency, common variable, 7 tmpte7i6ely_mondo_relaxed.owl CVID7|immunodeficiency, common variable, 7|immunodeficiency, common variable, type 7 UMLS:C3542922|Orphanet:1572|OMIM:614699 owl:Class MONDO:0015517 biolink:NamedThing common variable immunodeficiency Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. tmpte7i6ely_mondo_relaxed.owl CVID|common variable agammaglobulinemia|primary hypogammaglobulinemia|idiopathic immunoglobulin deficiency|primary antibody deficiency|secondary hypogammaglobulinemia|common variable immune deficiency|sporadic hypogammaglobulinemia|common variable hypogamma-globulinemia|Immunoglobulin deficiency, late-onset|acquired agammaglobulinemia|hypogamma-globulinemia, acquired|acquired hypogammaglobulinemia GARD:0006140|MESH:D017074|Orphanet:1572|OMIM:615577|NCIT:C26725|ICD10:D83.1|OMIM:613496|OMIM:146830|OMIM:614699|ICD10:D83.2|OMIM:607594|ICD10:D83.8|UMLS:C0009447|OMIM:240500|OMIMPS:607594|OMIM:616576|SCTID:23238000|ICD9:279.06|ICD10:D83|MedDRA:10021449|OMIM:613493|OMIM:613495|OMIM:615767|ICD10:D83.0|DOID:12177|OMIM:613494|OMIM:614700|ICD10:D83.9 owl:Class MONDO:0008872 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type II A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. tmpte7i6ely_mondo_relaxed.owl microcephalic osteodysplastic primordial dwarfism, type II|Majewski osteodysplastic primordial dwarfism type II|osteodysplastic primordial dwarfism, type 2|osteodysplastic primordial dwarfism type 2|MOPD2|microcephalic osteodysplastic primordial dwarfism type 2|microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|MOPD II|osteodysplastic primordial dwarfism type II|MOPD type II|microcephalic osteodysplastic primordial dwarfism, type 2|Mopd 2 Orphanet:2637|ICD10:Q87.1|MESH:C565898|SCTID:254103003|OMIM:210720|DOID:0060609|GARD:0009844 https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 owl:Class MONDO:0005516 biolink:NamedThing osteochondrodysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. tmpte7i6ely_mondo_relaxed.owl osteochondrodysplasia syndrome|skeletal dysplasia|cartilage development disorder|congenital skeletal dysplasia|osteochondrodysplasia|congenital anomaly of cartilage NCIT:C84978|ICD9:756.4|EFO:0005571|OMIM:215050|SCTID:105985007|MESH:D010009|ICD10:Q78.9|GARD:0006051|UMLS:C0029422|DOID:2256 owl:Class MONDO:0016487 biolink:NamedThing beta-thalassemia intermedia Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. tmpte7i6ely_mondo_relaxed.owl ICD10:D56.1|OMIM:613985|ICD9:282.49|Orphanet:231222|MedDRA:10062923|SCTID:191189009 owl:Class MONDO:0013517 biolink:NamedThing beta-thalassemia HBB/LCRB Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. tmpte7i6ely_mondo_relaxed.owl beta-thalassemia OMIM:613985|Orphanet:231222|Orphanet:231214|SCDO:0000251|Orphanet:848 OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). owl:Class MONDO:0004489 biolink:NamedThing fallopian tube gestational choriocarcinoma A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. tmpte7i6ely_mondo_relaxed.owl gestational choriocarcinoma of fallopian tube|gestational choriocarcinoma of the fallopian tube|fallopian tube gestational choriocarcinoma DOID:8186|NCIT:C6278|UMLS:C1333593 owl:Class MONDO:0006206 biolink:NamedThing fallopian tube carcinoma A carcinoma that arises from epithelial cells of the fallopian tube. tmpte7i6ely_mondo_relaxed.owl fallopian tube cancer|fallopian tube Ca|fallopian tube carcinoma|cancer of fallopian tube|carcinoma of the fallopian tube|cancer of the fallopian tube|carcinoma of fallopian tube EFO:1000251|DOID:1963|NCIT:C3867|SCTID:276870001|UMLS:C0238122 owl:Class MONDO:0008977 biolink:NamedThing chondrosarcoma A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. tmpte7i6ely_mondo_relaxed.owl chondrosarcoma (disease)|chondrosarcoma of bone|primary chondrosarcoma of the bone|chondrosarcoma|chondrosarcoma, malignant chondrosarcoma (disease) GARD:0006055|MedDRA:10008734|MESH:D002813|ONCOTREE:CHS|SCTID:443520009|Orphanet:55880|NCIT:C2946|OMIM:215300|ICD10:C49.9|ICD9:170.9|DOID:3371|EFO:0000333|UMLS:C0008479|HP:0006765|ICDO:9220/3 owl:Class MONDO:0005089 biolink:NamedThing sarcoma A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. tmpte7i6ely_mondo_relaxed.owl mesenchymal tumor, malignant|sarcoma|sarcoma of soft tissue and bone|tumor of soft tissue and skeleton|sarcoma, malignant|sarcoma of the soft tissue and bone EFO:0000691|ICD9:171.7|ICD9:171.8|ICD9:171.3|ICD9:171.6|ICD9:171|MESH:D012509|ICD9:171.2|ICDO:8800/3|ICD9:171.4|ICD10:C49|ICD9:171.9|SCTID:424413001|ICD9:171.0|GARD:0012018|NCIT:C9118|ICD9:171.5|DOID:1115 owl:Class MONDO:0012896 biolink:NamedThing psoriasis 10, susceptibility to tmpte7i6ely_mondo_relaxed.owl psoriasis 10, susceptibility to|PSORS10 OMIM:612410|DOID:0111289 owl:Class MONDO:0013169 biolink:NamedThing chromosome 5p13 duplication syndrome 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). tmpte7i6ely_mondo_relaxed.owl dup(5)(p13)|chromosome 5p13 duplication syndrome|5p13 microduplication syndrome|trisomy 5p13 UMLS:C2750805|DOID:0060460|ICD10:Q92.3|Orphanet:329802|OMIM:613174|MESH:C567717 owl:Class MONDO:0021253 biolink:NamedThing gallbladder neoplasm A neoplasm (disease) that involves the gall bladder. tmpte7i6ely_mondo_relaxed.owl tumor of gall bladder|neoplasm of the gallbladder|gall bladder tumor|tumor of gallbladder|gallbladder tumor|tumor of the gallbladder|neoplasm of gallbladder|gall bladder neoplasm|gall bladder neoplasm (disease)|neoplasm of gall bladder UMLS:C0016978|NCIT:C3048 owl:Class MONDO:0005070 biolink:NamedThing neoplasm A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. tmpte7i6ely_mondo_relaxed.owl neoplasia|neoplasm|disease of cellular proliferation|neoplastic disease|neoplastic growth|tumor disease|cell process disease|other neoplasm|tumor|neoplasm (disease) neoplasm (disease) ICD9:239.8|DOID:14566|ICD9:140-239.99|ICD10:C00.D48|HP:0002664|ONCOTREE:OTHER|NCIT:C3262|SCTID:55342001|ICD9:239.9|MESH:D009369|UMLS:CN236628|EFO:0000616 owl:Class MONDO:0006014 biolink:NamedThing vulvovaginal candidiasis Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. tmpte7i6ely_mondo_relaxed.owl candidal: [vulvovaginitis NOS] or [cervix]|monilial vulvovaginitis|vulvovaginal candidiasis|candidal: cervix|vaginal candidiasis|candidal vulvovaginitis|candidiasis of vulva and vagina NCIT:C2914|EFO:0007543|DOID:2272|UMLS:C0700345|ICD9:112.1|MESH:D002181|ICD10:B37.3|SCTID:72605008 owl:Class MONDO:0000879 biolink:NamedThing cutaneous candidiasis Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl zone of skin candidiasis DOID:0080161|MESH:D002179|UMLS:C0006846 owl:Class UBERON:0001797 biolink:NamedThing vitreous humor tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006312 biolink:NamedThing ocular refractive media tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009906 biolink:NamedThing root of optic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002211 biolink:NamedThing nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1980442 biolink:NamedThing Orthohantavirus tmpte7i6ely_mondo_relaxed.owl Hantavirus GC_ID:1 NCBITaxon:11598 ncbi_taxonomy owl:Class NCBITaxon:2560074 biolink:NamedThing Mammantavirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0034714 biolink:NamedThing epiphyseal tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034713 biolink:NamedThing cranial neuron projection bundle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006036 biolink:NamedThing granulosa cell tumor A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. tmpte7i6ely_mondo_relaxed.owl GRCT|granulosa cell tumor, undetermined|granulosa cell neoplasm|granulosa cell tumor, adult type (morphologic abnormality)|granulosa cell tumor|granulosa cell tumor, adult type|tumor of granulosa cell|granulosa cell tumour, sarcomatoid|neoplasm of granulosa cell|granulosa cell neoplasm (disease) DOID:2999|NCIT:C3070|UMLS:C0018206|MESH:D006106|EFO:1000032|ONCOTREE:GRCT owl:Class MONDO:0032822 biolink:NamedThing developmental and epileptic encephalopathy, 80 tmpte7i6ely_mondo_relaxed.owl Glycosylphosphatidylinositol Biosynthesis Defect 20|epileptic encephalopathy, early infantile, 80|DEE80|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80|EIEE80 OMIM:618580 owl:Class MONDO:0100062 biolink:NamedThing developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy with suppression-bursts|Ohtahara syndrome|epileptic encephalopathy, early infantile|developmental and epileptic encephalopathy|infantile epileptic encephalopathy|EIEE|early infantile epileptic encephalopathy|infantile spasm|early infantile epileptic encephalopathy with burst-suppression|epileptic encephalopathy, infantile 2018-10-10 22:04:15+00:00 OMIM:300672|OMIM:613721|OMIM:613722|NCIT:C84788|EFO:1000643|ICD10:G40.3|ICD10:G40.82|ICD9:345.10|OMIM:308350|DOID:0050709|GARD:0009255|OMIM:613477|OMIM:613720|MedDRA:10071545|OMIM:607208|ICD9:345.6|NCIT:C122814|Orphanet:1934|SCTID:230429005|DOID:2481|OMIMPS:308350|SCTID:28055006|OMIM:609304|OMIM:612164|OMIM:300607|OMIM:616341|OMIM:613402|OMIM:615473|UMLS:C0037769 Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. owl:Class OBO:MF_0000075 biolink:NamedThing mental quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:MF_0000074 biolink:NamedThing bodily quality A bodily quality is a quality that inheres in some extended organism. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18518 biolink:NamedThing RNASEH2A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9802 biolink:NamedThing RAC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0029137 biolink:NamedThing hearing loss, autosomal dominant 74 tmpte7i6ely_mondo_relaxed.owl DFNA74|deafness, autosomal dominant 74 OMIM:618140 owl:Class MONDO:0019587 biolink:NamedThing autosomal dominant nonsyndromic hearing loss Autosomal dominant form of nonsyndromic deafness. tmpte7i6ely_mondo_relaxed.owl autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic hearing loss and deafness|nonsyndromic deafness, autosomal dominant|autosomal dominant deafness|deafness, autosomal dominant|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant non-syndromic neurosensory deafness type DFNA|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated deafness|autosomal dominant nonsyndromic hearing impairment|autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant isolated sensorineural deafness type DFNA OMIM:601317|OMIM:609129|OMIM:616340|OMIM:608394|OMIM:616968|OMIM:607683|OMIMPS:124900|OMIM:612642|OMIM:612431|OMIM:604717|OMIM:616969|OMIM:600965|OMIM:606451|OMIM:616357|OMIM:606282|OMIM:606705|OMIM:613558|OMIM:614614|OMIM:124900|OMIM:601369|OMIM:609965|DOID:0050564|OMIM:606012|OMIM:601316|UMLS:CN043649|OMIM:608224|OMIM:606346|OMIM:603964|OMIM:601412|OMIM:608372|OMIM:616697|OMIM:603622|OMIM:601544|OMIM:605583|ICD10:H90.3|OMIM:600101|OMIM:612643|OMIM:601868|OMIM:602459|OMIM:607197|Orphanet:90635|OMIM:608652|OMIM:601543|OMIM:605192|OMIM:616044|OMIM:607017|OMIM:600652|OMIM:616707|OMIM:615649|OMIM:612644|OMIM:600994|OMIM:607453|OMIM:613074|OMIM:615654|OMIM:608645|OMIM:614211|OMIM:615629|OMIM:607841|OMIM:608641|OMIM:614152 owl:Class MONDO:0011499 biolink:NamedThing Okamoto syndrome Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. tmpte7i6ely_mondo_relaxed.owl congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|Okamoto syndrome|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation OMIM:604916|UMLS:C1858043|Orphanet:2729|GARD:0004064|SCTID:722065002|ICD10:Q87.8|MESH:C565736 https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome owl:Class NCBITaxon:156300 biolink:NamedThing Chaetothyriales incertae sedis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:36051 ncbi_taxonomy owl:Class NCBITaxon:34395 biolink:NamedThing Chaetothyriales tmpte7i6ely_mondo_relaxed.owl black yeasts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003032 biolink:NamedThing superior vena cava angiosarcoma A malignant vascular neoplasm arising from the superior vena cava. tmpte7i6ely_mondo_relaxed.owl angiosarcoma (disease) of anterior vena cava|anterior vena cava angiosarcoma (disease)|angiosarcoma of Superior vena cava|angiosarcoma of the Superior vena cava UMLS:C1336530|NCIT:C5378|DOID:4522 owl:Class MONDO:0040676 biolink:NamedThing great vessel cancer A malignant neoplasm arising from the great vessels. tmpte7i6ely_mondo_relaxed.owl cancer of great vessel of heart|malignant great vessel neoplasm|malignant great vessel tumor|great vessel of heart cancer|malignant neoplasm of great vessel of heart|malignant great vessel of heart neoplasm|great vessel cancer UMLS:C3665405|NCIT:C4575 owl:Class MONDO:0021271 biolink:NamedThing villous adenoma of colon A villous adenoma that involves the colon. tmpte7i6ely_mondo_relaxed.owl colon villous adenoma|villous adenoma of the colon|colonic villous adenoma SCTID:309084001|NCIT:C3495|UMLS:C0149862 owl:Class MONDO:0000527 biolink:NamedThing colon adenoma An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpte7i6ely_mondo_relaxed.owl colon adenoma|adenoma of the colon|adenoma of colon|colonic adenoma DOID:0050912|NCIT:C3864|UMLS:C0850572 owl:Class MONDO:0014863 biolink:NamedThing macrocephaly, dysmorphic facies, and psychomotor retardation tmpte7i6ely_mondo_relaxed.owl MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation|macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR OMIM:617011|UMLS:C4310766 owl:Class UBERON:0034709 biolink:NamedThing hindbrain marginal layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004062 biolink:NamedThing neural tube marginal layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023039 biolink:NamedThing eccrine mucinous carcinoma tmpte7i6ely_mondo_relaxed.owl UMLS:C0346020|GARD:0010465 https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma owl:Class MONDO:0024240 biolink:NamedThing eccrine carcinoma An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma. tmpte7i6ely_mondo_relaxed.owl eccrine carcinoma of skin|carcinoma, eccrine gland, malignant|eccrine adenocarcinoma (morphologic abnormality)|eccrine adenocarcinoma|eccrine sweat gland carcinoma|carcinoma of eccrine sweat gland|eccrine sweat gland adenocarcinoma|eccrine carcinoma ICDO:8413/3|SCTID:400173004|UMLS:C1302864|NCIT:C27255|UMLS:C1266066|DOID:4920|UMLS:C1707878 owl:Class UBERON:0011595 biolink:NamedThing jaw region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000475 biolink:NamedThing organism subdivision tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043401 biolink:NamedThing steroid hormone mediated signaling pathway A series of molecular signals mediated by a steroid hormone binding to a receptor. tmpte7i6ely_mondo_relaxed.owl steroid hormone mediated signalling owl:Class GO:0009755 biolink:NamedThing hormone-mediated signaling pathway A series of molecular signals mediated by the detection of a hormone. tmpte7i6ely_mondo_relaxed.owl hormone mediated signalling owl:Class MONDO:0017030 biolink:NamedThing interstitial lung disease in childhood and adulthood tmpte7i6ely_mondo_relaxed.owl ILD in childhood and adulthood Orphanet:264757|UMLS:CN202341 owl:Class MONDO:0015925 biolink:NamedThing interstitial lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. tmpte7i6ely_mondo_relaxed.owl interstitial lung disease|ILD Orphanet:182095|UMLS:C0206062|SCTID:233703007|DOID:3082|ICD10:J84.9|GARD:0013336|EFO:0004244|MESH:D017563|MedDRA:10022611 owl:Class FOODON:03411324 biolink:NamedThing grain plant Any grass cultivated (grown) for the edible components of its grain. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411047 biolink:NamedThing grain or seed-producing plant tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005938 biolink:NamedThing renal tuberculosis Infection of the kidney due to mycobacteria. tmpte7i6ely_mondo_relaxed.owl kidney tuberculosis|tuberculosis of kidney ICD9:016.0|ICD9:016.00|UMLS:C0041328|DOID:9733|NCIT:C123020|MESH:D014398|EFO:0007463|SCTID:44323002 owl:Class MONDO:0005247 biolink:NamedThing bacterial urinary tract infection A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. tmpte7i6ely_mondo_relaxed.owl UTI|infection, urinary tract|tract, infection Of urinary|urinary tract infection|urinary tract infectious disease|bacterial urinary tract infection (disease)|urinary tract infection (disease) bacterial urinary tract infection (disease) EFO:0003103|NCIT:C50791|SCTID:68566005|ICD9:599.0 owl:Class MONDO:0014642 biolink:NamedThing candidiasis, familial, 9 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. tmpte7i6ely_mondo_relaxed.owl candidiasis, familial, 9|chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|IL17RC chronic mucocutaneous candidiasis (disease)|candidiasis, familial, type 9|CANDF9 OMIM:616445|UMLS:C4225324 owl:Class MONDO:0015279 biolink:NamedThing chronic mucocutaneous candidiasis tmpte7i6ely_mondo_relaxed.owl chronic mucocutaneous candidiasis|familial chronic mucocutaneous candidiasis|familial CMC|CMC|familial candidiasis|chronic mucocutaneous candidiasis (disease)|CANDF chronic mucocutaneous candidiasis (disease) MedDRA:10009007|OMIM:114580|OMIM:613953|HP:0002728|OMIM:616445|NCIT:C34444|OMIM:614162|DOID:2058|OMIM:613108|OMIM:607644|OMIM:212050|OMIM:615527|Orphanet:1334|SCTID:234568006|MESH:D002178|OMIMPS:114580|OMIM:252250|OMIM:613956|ICD10:B37.2|OMIM:247650|UMLS:C0006845 owl:Class UBERON:0018112 biolink:NamedThing rectum smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004231 biolink:NamedThing anal region smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903862 biolink:NamedThing positive regulation of oxidative phosphorylation Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation. tmpte7i6ely_mondo_relaxed.owl activation of oxidative phosphorylation|up regulation of oxidative phosphorylation|up-regulation of oxidative phosphorylation|up-regulation of respiratory-chain phosphorylation|up regulation of respiratory-chain phosphorylation|upregulation of oxidative phosphorylation|activation of respiratory-chain phosphorylation|upregulation of respiratory-chain phosphorylation|positive regulation of respiratory-chain phosphorylation owl:Class GO:0002082 biolink:NamedThing regulation of oxidative phosphorylation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpte7i6ely_mondo_relaxed.owl OXPHOS owl:Class MONDO:0015360 biolink:NamedThing autosomal dominant hereditary axonal motor and sensory neuropathy tmpte7i6ely_mondo_relaxed.owl ICD10:G60.0|UMLS:CN228927|Orphanet:140456 owl:Class MONDO:0000426 biolink:NamedThing autosomal dominant disease Autosomal dominant form of disease. tmpte7i6ely_mondo_relaxed.owl disease or disorder, autosomal dominant|autosomal dominant disease or disorder|autosomal dominant hereditary disorder|disease, autosomal dominant|autosomal dominant inherited disorder ICD9:758.5|UMLS:C0265385|DOID:0050736|SCTID:11164009 owl:Class MONDO:0003505 biolink:NamedThing femoral cancer A cancer involving a femur. tmpte7i6ely_mondo_relaxed.owl femoral neoplasm|neoplasm of femur|femur cancer|cancer of femur|malignant neoplasm of femur|malignant femur neoplasm EFO:0007270|MESH:D005266|DOID:5546|SCTID:126583006 owl:Class MONDO:0000952 biolink:NamedThing cancer of long bone of lower limb A cancer that involves the hindlimb long bone. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of hindlimb long bone|hindlimb long bone cancer|malignant neoplasm of long bones of leg|malignant hindlimb long bone neoplasm|cancer of hindlimb long bone|long bones of lower limb cancer UMLS:C3265932|ICD10:C40.2|ICD9:170.7|SCTID:449627008|DOID:10149 owl:Class HP:0002536 biolink:NamedThing Abnormal cortical gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. tmpte7i6ely_mondo_relaxed.owl Abnormal gyration|Cerebral gyral anomalies UMLS:C1856019 HP:0006900 human_phenotype owl:Class HP:0002538 biolink:NamedThing Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebral cortex UMLS:C4025701 The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. human_phenotype owl:Class MONDO:0014772 biolink:NamedThing orofacial cleft 15 Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. tmpte7i6ely_mondo_relaxed.owl OFC15|DLX4 cleft lip/palate|cleft lip/palate caused by mutation in DLX4|orofacial cleft type 15|orofacial cleft 15 DOID:0080408|OMIM:616788 owl:Class GO:0019218 biolink:NamedThing regulation of steroid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpte7i6ely_mondo_relaxed.owl regulation of steroid metabolism owl:Class MONDO:0011500 biolink:NamedThing Becker nevus syndrome Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual. tmpte7i6ely_mondo_relaxed.owl Becker nevus syndrome|pigmentary hairy epidermal nevus|hairy epidermal nevus syndrome Orphanet:64755|GARD:0003856|UMLS:C1858042|UMLS:C0263579|MESH:C565735|OMIM:604919|ICD10:D22.5 https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome owl:Class MONDO:0000620 biolink:NamedThing breast benign neoplasm A non-metastasizing neoplasm arising from the breast parenchyma. tmpte7i6ely_mondo_relaxed.owl benign tumor of the breast|benign neoplasm of the breast|benign breast neoplasm|breast benign neoplasm|benign breast tumor|benign tumor of breast|benign neoplasm of breast SCTID:269485000|ICD9:217|NCIT:C4505|DOID:0060082 owl:Class MONDO:0019912 biolink:NamedThing maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy of chromosome type 6|UPD(6)mat SCTID:766239009|ICD10:Q99.8|Orphanet:96181 owl:Class MONDO:0700086 biolink:NamedThing uniparental disomy A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. tmpte7i6ely_mondo_relaxed.owl NCIT:C85215 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0034145 biolink:NamedThing oculocerebrodental syndrome tmpte7i6ely_mondo_relaxed.owl OCSKD|Cataracts, Early-Onset, With Skeletal and Dental Anomalies|oculoskeletodental syndrome OMIM:618440|Orphanet:557003 owl:Class MONDO:0002320 biolink:NamedThing congenital nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. tmpte7i6ely_mondo_relaxed.owl congenital neurologic anomaly|congenital abnormality of the nervous system|congenital nervous system disorder ICD9:742|NCIT:C97172|DOID:2490 owl:Class NCBITaxon:56212 biolink:NamedThing Calomys musculinus tmpte7i6ely_mondo_relaxed.owl drylands vesper mouse GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:29105 biolink:NamedThing Calomys tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0042645 biolink:NamedThing mitochondrial nucleoid The region of a mitochondrion to which the DNA is confined. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043232 biolink:NamedThing intracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. tmpte7i6ely_mondo_relaxed.owl intracellular non-membrane-enclosed organelle owl:Class MONDO:0010524 biolink:NamedThing X-linked sideroblastic anemia with ataxia A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. tmpte7i6ely_mondo_relaxed.owl XLSA-A|anemia, sideroblastic, and spinocerebellar ataxia|X-linked sideroblastic anemia and spinocerebellar ataxia|anemia, Sex-linked hypochromic Siderobla|X-linked sideroblastic anemia with ataxia|X-linked sideroblastic Anemia and ataxia|Pagon-Bird-Detter syndrome|anemia sideroblastic and spinocerebellar ataxia|sideroblastic anemia with spinocerebellar ataxia|ASAT|X-linked sideroblastic anemia with spinocerebellar ataxia|X-linked sideroblastic anemia and ataxia|Xlsa-A|Pagon Bird Detter syndrome Orphanet:2802|SCTID:719816006|ICD10:D64.0|OMIM:301310|MESH:C536358|UMLS:C1845028|DOID:0050554|UMLS:C4304338|GARD:0000668|DOID:0060064 owl:Class MONDO:0016612 biolink:NamedThing X-linked cerebellar ataxia X-linked form of cerebellar ataxia. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, X-linked|hereditary ataxia, X-linked|X-linked hereditary ataxia Orphanet:247765|ICD10:G11.1|DOID:0050953 MONDO:0000559 owl:Class GO:1903060 biolink:NamedThing negative regulation of protein lipidation Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation. tmpte7i6ely_mondo_relaxed.owl downregulation of protein amino acid lipidation|down-regulation of protein amino acid lipidation|negative regulation of protein amino acid lipidation|down regulation of lipid:protein modification|negative regulation of lipid:protein modification|downregulation of protein lipidation|down-regulation of protein lipidation|inhibition of protein lipidation|downregulation of lipid:protein modification|down-regulation of lipid:protein modification|inhibition of protein amino acid lipidation|down regulation of protein amino acid lipidation|down regulation of protein lipidation|inhibition of lipid:protein modification owl:Class MONDO:0016446 biolink:NamedThing acquired cutis laxa An instance of cutis laxa that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl cutis laxa acquisita|acquired cutis laxa UMLS:C0406549|SCTID:19726003|Orphanet:228285 owl:Class MONDO:0016434 biolink:NamedThing acquired dermis elastic tissue disorder An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired dermis elastic tissue disorder Orphanet:228218|UMLS:CN226927 owl:Class MONDO:0004209 biolink:NamedThing cerebral primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres. tmpte7i6ely_mondo_relaxed.owl cerebral PNET|primitive neuroectodermal neoplasm of the cerebral hemispheres|PNET of the cerebrum|cerebral hemisphere primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of the cerebrum|cerebral primitive neuroectodermal tumor|cerebral hemisphere PNET|primitive neuroectodermal neoplasm of cerebral hemispheres|primitive neuroectodermal tumor of cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor|primitive neuroectodermal tumor of the cerebral hemispheres|PNET of the cerebral hemispheres|PNET of cerebrum|primitive neuroectodermal neoplasm of the cerebrum|primitive neuroectodermal tumor of cerebrum|primitive neuroectodermal neoplasm of cerebrum|cerebral primitive neuroectodermal neoplasm|PNET of cerebral hemispheres NCIT:C4970|UMLS:C0751675|DOID:7398 owl:Class MONDO:0002731 biolink:NamedThing cerebral hemisphere cancer A cancer that involves the cerebral hemisphere. tmpte7i6ely_mondo_relaxed.owl malignant tumor of cerebrum|malignant neoplasm of telencephalon|malignant neoplasm of cerebral hemisphere|malignant cerebral tumor|tumor of cerebrum|telencephalon cancer|cancer of telencephalon|malignant neoplasm of cerebrum|malignant cerebral neoplasm|cerebral cancer|cancer of cerebral hemisphere|malignant cerebral hemisphere neoplasm|cerebrum cancer|malignant cerebral hemispheric neoplasm|malignant tumor of the cerebral hemispheres|malignant tumor of cerebral hemispheres|malignant neoplasm of the cerebral hemispheres|malignant cerebral hemispheric tumor|malignant telencephalon neoplasm|malignant neoplasm of the cerebrum|malignant neoplasm of cerebral hemispheres|malignant tumor of the cerebrum SCTID:429033009|ICD9:191.8|NCIT:C4577|DOID:368|SCTID:126953009|NCIT:C4874 owl:Class CHEBI:29202 biolink:NamedThing isocyanic acid A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology. tmpte7i6ely_mondo_relaxed.owl carbimide|HN=C=O|isocyansaeure|oxidoazanediidocarbon|methenamide|ICA|isocyanate|HNCO|hydrogen isocyanate|isocyanic acid|isozyansaeure|[C(NH)O] owl:Class CHEBI:64708 biolink:NamedThing one-carbon compound An organic molecular entity containing a single carbon atom (C1). tmpte7i6ely_mondo_relaxed.owl one-carbon compounds owl:Class UBERON:0015043 biolink:NamedThing manual digit 1 metacarpus endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015042 biolink:NamedThing manual digit metacarpus endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045700 biolink:NamedThing regulation of spermatid nuclear differentiation Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051239 biolink:NamedThing regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021157 biolink:NamedThing gonococcal cervicitis tmpte7i6ely_mondo_relaxed.owl gonorrhea of uterine cervix|gonorrhea of cervix SCTID:237083000|UMLS:C0812378 owl:Class MONDO:0002345 biolink:NamedThing cervicitis An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. tmpte7i6ely_mondo_relaxed.owl cervicitis|cervicitis (disease) cervicitis (disease) ICD9:616.0|SCTID:37610005|DOID:2568|ICD10:N72|HP:0030160|NCIT:C26716|MESH:D002575 owl:Class CHEBI:17602 biolink:NamedThing 4-aminophenol An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group. tmpte7i6ely_mondo_relaxed.owl p-Aminophenol|4-aminophenol|4-Aminobenzenol|p-hydroxyaniline|4-Hydroxyaniline|4-Aminophenol|4-AMINOPHENOL owl:Class CHEBI:28829 biolink:NamedThing aminophenol A substituted aniline carrying a hydroxy substituent. tmpte7i6ely_mondo_relaxed.owl hydroxyaniline|aminophenol|aminobenzenol owl:Class MONDO:0016906 biolink:NamedThing partial deletion of the long arm of chromosome 7 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial monosomy of the long arm of chromosome 7|7q monosomy|monosomy 7q|partial deletion of chromosome 7q|7q deletion|partial monosomy of chromosome 7q|partial deletion of the long arm of chromosome type 7|loss of chromosome 7q|partial monosomy 7q|del(7q)|deletion 7q Orphanet:262056|GARD:0003765|ICD10:Q93.5|NCIT:C36408 owl:Class MONDO:0000761 biolink:NamedThing syndrome caused by partial chromosomal deletion A chromosomal disorder consisting of the absence of a part of a chromosome. tmpte7i6ely_mondo_relaxed.owl chromosomal deletion syndrome DOID:0060388 Editor note: this is used in DOID to encompass typically partial deletions owl:Class PO:0000037 biolink:NamedThing shoot axis apex A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127). tmpte7i6ely_mondo_relaxed.owl ápice del epiblasto (epiblastema) (Spanish, exact)|シュート頂、茎頂 (Japanese, exact) PO_GIT:234 plant_anatomy owl:Class PO:0025029 biolink:NamedThing shoot axis A plant axis (PO:0025004) that is part of a shoot system (PO:0009006). tmpte7i6ely_mondo_relaxed.owl eje del epiblasto (epiblastema) (Spanish, exact)|shoot (related)|caullome (exact)|シュート軸 (Japanese, exact) Often bears leaves and branches. In vascular plants, has at least one node and one internode. rwalls 2010-07-01T03:46:35Z plant_anatomy owl:Class MONDO:0004442 biolink:NamedThing testis polyembryoma A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. tmpte7i6ely_mondo_relaxed.owl testicular polyembryoma|polyembryoma of testis|polyembryoma of the testis DOID:8042|NCIT:C40962|UMLS:C1514200 owl:Class MONDO:0015863 biolink:NamedThing polyembryoma Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. tmpte7i6ely_mondo_relaxed.owl gonadal polyembryoma Orphanet:180229|UMLS:C0334518|GARD:0009621|NCIT:C66776 https://rarediseases.info.nih.gov/diseases/9621/polyembryoma owl:Class UBERON:0004252 biolink:NamedThing hindlimb stylopod muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001383 biolink:NamedThing muscle of leg tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004140 biolink:NamedThing primary heart field tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002050 biolink:NamedThing embryonic structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007672 biolink:NamedThing glomuvenous malformation Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin. tmpte7i6ely_mondo_relaxed.owl hereditary glomangioma|VMGLOM|GLOMUVENOUS malformations|glomangiomatosis|glomuvenous malformation|Venous malformations with glomus cells|multiple glomus tumors|glomangiomas, multiple|hereditary multiple glomangiomas|glomus tumors, multiple|GVM|familial glomangioma MESH:C536827|Orphanet:83454|SCTID:715644000|UMLS:C1333987|ICD10:Q27.8|MedDRA:10018381|NCIT:C5350|UMLS:C1841984|OMIM:138000|DOID:7996 owl:Class MONDO:0015953 biolink:NamedThing genetic central nervous system and retinal vascular disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN200550|Orphanet:183503 owl:Class GO:0034248 biolink:NamedThing regulation of cellular amide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpte7i6ely_mondo_relaxed.owl regulation of amide metabolism owl:Class GO:0010566 biolink:NamedThing regulation of ketone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010565 biolink:NamedThing regulation of cellular ketone metabolic process Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005011 biolink:NamedThing mucosa of right uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000344 biolink:NamedThing mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7197 biolink:NamedThing MOG tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904774 biolink:NamedThing negative regulation of ubiquinone biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process. tmpte7i6ely_mondo_relaxed.owl down regulation of coenzyme Q10 biosynthetic process|down-regulation of ubiquinone synthesis|inhibition of ubiquinone formation|negative regulation of ubiquinone biosynthesis|downregulation of ubiquinone biosynthetic process|negative regulation of coenzyme Q biosynthetic process|negative regulation of coenzyme Q9 biosynthetic process|down-regulation of coenzyme Q10 biosynthesis|inhibition of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q6 biosynthesis|down-regulation of coenzyme Q9 biosynthesis|downregulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q6 biosynthetic process|inhibition of ubiquinone biosynthetic process|down-regulation of coenzyme Q8 biosynthetic process|down regulation of ubiquinone formation|negative regulation of coenzyme Q9 biosynthesis|downregulation of ubiquinone biosynthesis|down regulation of ubiquinone biosynthesis|down regulation of coenzyme Q biosynthetic process|inhibition of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q biosynthesis|downregulation of ubiquinone formation|down-regulation of coenzyme Q biosynthesis|down-regulation of coenzyme Q6 biosynthesis|negative regulation of coenzyme Q6 biosynthesis|down regulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone anabolism|inhibition of coenzyme Q biosynthesis|down regulation of coenzyme Q6 biosynthesis|inhibition of coenzyme Q biosynthetic process|down regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q8 biosynthesis|negative regulation of coenzyme Q8 biosynthetic process|negative regulation of coenzyme Q10 biosynthetic process|inhibition of coenzyme Q8 biosynthesis|down-regulation of ubiquinone biosynthetic process|inhibition of ubiquinone synthesis|down regulation of coenzyme Q9 biosynthesis|down-regulation of coenzyme Q9 biosynthetic process|inhibition of coenzyme Q9 biosynthetic process|inhibition of coenzyme Q9 biosynthesis|down-regulation of ubiquinone anabolism|downregulation of coenzyme Q8 biosynthesis|inhibition of ubiquinone anabolism|inhibition of coenzyme Q6 biosynthesis|downregulation of coenzyme Q9 biosynthesis|down regulation of coenzyme Q6 biosynthetic process|inhibition of coenzyme Q10 biosynthesis|downregulation of ubiquinone anabolism|down regulation of ubiquinone biosynthetic process|downregulation of coenzyme Q10 biosynthetic process|negative regulation of coenzyme Q6 biosynthetic process|downregulation of ubiquinone synthesis|down-regulation of coenzyme Q biosynthetic process|down-regulation of ubiquinone formation|negative regulation of coenzyme Q8 biosynthesis|inhibition of ubiquinone biosynthesis|downregulation of coenzyme Q9 biosynthetic process|down-regulation of ubiquinone biosynthesis|down regulation of coenzyme Q8 biosynthesis|down regulation of coenzyme Q10 biosynthesis|negative regulation of ubiquinone formation|inhibition of coenzyme Q8 biosynthetic process|negative regulation of ubiquinone anabolism|downregulation of coenzyme Q10 biosynthesis|downregulation of coenzyme Q biosynthetic process|down regulation of ubiquinone synthesis|downregulation of coenzyme Q6 biosynthetic process|negative regulation of coenzyme Q biosynthesis|negative regulation of coenzyme Q10 biosynthesis|negative regulation of ubiquinone synthesis|down regulation of coenzyme Q biosynthesis owl:Class GO:0031327 biolink:NamedThing negative regulation of cellular biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl down regulation of cellular biosynthetic process|down-regulation of cellular biosynthetic process|inhibition of cellular biosynthetic process|negative regulation of cellular biosynthesis|downregulation of cellular biosynthetic process|negative regulation of cellular formation|negative regulation of cellular synthesis|negative regulation of cellular anabolism owl:Class MONDO:0002612 biolink:NamedThing frontal lobe epilepsy A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) tmpte7i6ely_mondo_relaxed.owl frontal lobe epilepsy|epilepsy of frontal lobe UMLS:C0085541|MESH:D017034|SCTID:230394006|DOID:3331 owl:Class MONDO:0005384 biolink:NamedThing partial epilepsy A seizure caused by a localized disorder. tmpte7i6ely_mondo_relaxed.owl partial epilepsy|focal epilepsy|localisation-related epilepsy EFO:0004263|DOID:2234|MESH:D004828|NCIT:C122812|SCTID:230381009|ICD9:345.50|UMLS:C0014547 owl:Class CL:0000507 biolink:NamedThing endorphin secreting cell A peptide hormone secreting cell that secretes endorphin. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000167 biolink:NamedThing peptide hormone secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0016467 biolink:NamedThing isotretinoin syndrome Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy. tmpte7i6ely_mondo_relaxed.owl Isotretinoin teratogen syndrome|fetal isotretinoin syndrome|fetal retinoid syndrome|Isotretinoin fetal effects of|Acutane embryopathy|Retinoids embryopathy|Accutane-exposed pregnancies|Accutane fetal effects of|Isotretinoin embryopathy|retinoic acid embryopathy|Isotretinoin (RoAccutane) embryopathy Orphanet:2305|GARD:0000517|MESH:C535670|SCTID:36871005|NCIT:C98929|ICD10:Q86.8 owl:Class MONDO:0015323 biolink:NamedThing teratogenic Pierre Robin syndrome tmpte7i6ely_mondo_relaxed.owl teratogenic Pierre Robin sequence Orphanet:138059|UMLS:CN199294 owl:Class MONDO:0012124 biolink:NamedThing sudden infant death-dysgenesis of the testes syndrome Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. tmpte7i6ely_mondo_relaxed.owl sudden infant death - dysgenesis of the testes|SIDDT|sudden infant death with dysgenesis of the testes syndrome MESH:C563856|UMLS:C1837371|OMIM:608800|ICD10:G90.8|Orphanet:168593|GARD:0012382 owl:Class MONDO:0005087 biolink:NamedThing respiratory system disorder A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. tmpte7i6ely_mondo_relaxed.owl disorder of respiratory system|respiratory system disease|disease of respiratory system|respiratory disorder|respiratory system disease or disorder|respiratory system disorder|disease or disorder of respiratory system|respiratory disease ICD9:516|MESH:D012140|ICD9:517.8|ICD9:508.9|ICD9:508.8|ICD9:503|SCTID:50043002|ICD9:500-508.99|ICD9:V47.2|ICD9:460-519.99|ICD9:519.9|DOID:1579|EFO:0000684|ICD10:J96-J99|ICD9:519.3|ICD9:510-519.99|ICD9:517|ICD9:508.1|ICD9:519.8|ICD9:V12.60|ICD9:516.9|NCIT:C26871|ICD9:516.8|ICD9:519|ICD9:508|ICD9:519.1|ICD10:J98 owl:Class HP:0030222 biolink:NamedThing Visual agnosia Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:25762009|UMLS:C0234502|MSH:D000377 human_phenotype owl:Class HP:0010524 biolink:NamedThing Agnosia Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:42341009|MSH:D000377|UMLS:C0001816 peter 2009-09-20T11:33:03Z human_phenotype owl:Class MONDO:0000959 biolink:NamedThing malignant hypertensive renal disease tmpte7i6ely_mondo_relaxed.owl UMLS:C0155593|ICD9:403.00|DOID:10177|SCTID:65443008 owl:Class MONDO:0024633 biolink:NamedThing hypertensive nephropathy Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. tmpte7i6ely_mondo_relaxed.owl hypertensive renal disease|hypertensive nephropathy|HNP1 NCIT:C4757|UMLS:C0848548|SCTID:38481006|ICD9:403.90|MESH:C563161|OMIM:608026 owl:Class MONDO:0001912 biolink:NamedThing acute frontal sinusitis Acute form of frontal sinusitis. tmpte7i6ely_mondo_relaxed.owl frontal sinusitis, acute DOID:14225|ICD9:461.1|ICD10:J01.10|UMLS:C0155805|SCTID:91038008|ICD10:J01.1 owl:Class MONDO:0020683 biolink:NamedThing acute disease Disease having a short and relatively severe course. tmpte7i6ely_mondo_relaxed.owl acute diseases|acute disease|disease, acute MESH:D000208|SCTID:2704003|UMLS:C0001314|ICD9:799.89 owl:Class GO:1901706 biolink:NamedThing mesenchymal cell differentiation involved in bone development The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048762 biolink:NamedThing mesenchymal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044984 biolink:NamedThing nasolacrimal duct disorder A disease or disorder that involves the nasolacrimal duct. tmpte7i6ely_mondo_relaxed.owl disease of nasolacrimal duct|disease or disorder of nasolacrimal duct|nasolacrimal duct disease or disorder|disorder of nasolacrimal duct|nasolacrimal duct disease UMLS:C0521744|SCTID:95767006 owl:Class MONDO:0001854 biolink:NamedThing lacrimal apparatus disorder A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. tmpte7i6ely_mondo_relaxed.owl lacrimal apparatus disease|lacrimal apparatus disease or disorder|disorder of lacrimal system|disorder of lacrimal apparatus|disease of lacrimal apparatus|lachrymal system disorders|lacrimal system disease|disease or disorder of lacrimal apparatus|lacrimal system disorder ICD9:375|SCTID:31053003|MESH:D007766|NCIT:C26809|ICD10:H04.9|ICD9:375.9|DOID:1400|ICD10:H04|ICD9:375.89|ICD9:375.69 owl:Class ECTO:0000657 biolink:NamedThing exposure to disinfectant An exposure to disinfectant. tmpte7i6ely_mondo_relaxed.owl exposure to disinfectant owl:Class ECTO:0000544 biolink:NamedThing exposure to antimicrobial agent An exposure to antimicrobial agent. tmpte7i6ely_mondo_relaxed.owl exposure to antimicrobial agent owl:Class MONDO:0009987 biolink:NamedThing autosomal recessive pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. tmpte7i6ely_mondo_relaxed.owl retinopathy, pericentral pigmentary, autosomal recessive|retinitis pigmentosa, pericentral OMIM:268060|Orphanet:791|DOID:0110422|ICD10:H35.5|UMLS:C1849398|MESH:C564838 owl:Class MONDO:0019200 biolink:NamedThing retinitis pigmentosa Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa|pericentral pigmentary retinopathy|Rod-cone dystrophy DOID:10584|OMIM:612712|OMIM:268000|OMIM:613809|OMIM:615233|OMIM:611131|OMIM:180104|OMIM:300605|OMIM:613341|OMIM:400004|OMIM:617123|OMIM:180105|OMIM:610282|OMIM:613810|ICD10:H35.5|OMIM:613767|OMIM:300029|UMLS:C0035334|OMIM:613428|OMIM:613750|OMIM:612943|OMIM:613862|OMIM:613582|OMIM:614500|OMIM:268025|OMIM:612572|OMIM:601718|OMIM:600852|OMIM:613794|MedDRA:10038914|SCTID:28835009|OMIM:615922|OMIM:614494|OMIM:615434|OMIM:612165|OMIM:609923|OMIM:615725|OMIM:312600|OMIM:613731|OMIM:613758|OMIM:268060|OMIM:613617|OMIM:600059|OMIM:613756|UMLS:C0220701|NCIT:C85045|OMIM:616562|OMIM:612095|OMIM:602594|OMIM:300155|OMIM:613983|Orphanet:791|MESH:C538365|OMIM:609913|OMIM:613464|OMIM:600105|OMIM:610599|OMIM:613581|OMIM:616544|OMIM:615565|OMIM:602772|OMIM:613575|OMIM:613194|OMIM:608380|OMIM:613827|OMIM:616188|OMIMPS:268000|OMIM:604393|OMIM:607921|MESH:D012174|OMIM:600132|OMIM:613660|OMIM:300424|OMIM:616394|OMIM:606068|OMIM:608133|OMIM:613769|OMIM:613861|OMIM:614181|UMLS:C4072872|OMIM:616469|OMIM:604232|OMIM:600138|OMIM:617023|OMIM:614180|OMIM:601414|ICD10:H35.52|OMIM:312612|OMIM:610359|OMIM:613801|GARD:0005694|OMIM:180100|OMIM:180210|OMIM:615780 owl:Class CHEBI:36902 biolink:NamedThing chalcogen hydride tmpte7i6ely_mondo_relaxed.owl chalcogen hydride|chalcogen hydrides owl:Class CHEBI:33242 biolink:NamedThing inorganic hydride tmpte7i6ely_mondo_relaxed.owl inorganic hydrides owl:Class UBERON:0004141 biolink:NamedThing heart tube tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003914 biolink:NamedThing epithelial tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006743 biolink:NamedThing endocrine tuberculosis Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis. tmpte7i6ely_mondo_relaxed.owl EFO:1000917|MESH:D014383|UMLS:C0041310 owl:Class MONDO:0005151 biolink:NamedThing endocrine system disorder A disease involving the endocrine system. tmpte7i6ely_mondo_relaxed.owl endocrine system disorder|endocrine system disease or disorder|endocrine disease|disease or disorder of endocrine system|disorder of endocrine system|endocrine system disease|disease of endocrine system|thyroid or other glandular disorders|endocrinopathy|endocrine disorder ICD9:259.9|DOID:28|NCIT:C3009|EFO:0001379|ICD9:259.8|MESH:D004700|SCTID:362969004|ICD10:E34.9|UMLS:C0014130 owl:Class MONDO:0006346 biolink:NamedThing pancreatic acinar cell carcinoma An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis. tmpte7i6ely_mondo_relaxed.owl pancreas acinar cell adenocarcinoma|acinar cell carcinoma of the pancreas|acinar cell adenocarcinoma of pancreas|carcinoma of pancreatic acinar cell|Pancreatic acinar cell cancer|pancreatic acinar cell adenocarcinoma|pancreatic acinar cell carcinoma|acinar cell carcinoma of pancreas|acinar cell adenocarcinoma of the pancreas|PAAC UMLS:C0279661|ICD10:C25.7|ONCOTREE:PAAC|ICD10:C25.8|Orphanet:424046|ICD10:C25.0|ICD10:C25.2|DOID:5742|ICD10:C25.1|NCIT:C7977|EFO:1000439 owl:Class MONDO:0004993 biolink:NamedThing carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant epithelioma|carcinoma, malignant|carcinoma|malignant epithelial neoplasm|epithelioma|Other carcinoma|epithelioma malignant|epithelial carcinoma|malignant epithelial tumor MESH:D002277|EFO:0000313|CSP:2000-1867|NCIT:C2916|DOID:305|SCTID:722688002|ICDO:8011/3|MESH:D009375|UMLS:C0007097|ICDO:8010/3 owl:Class MONDO:0024262 biolink:NamedThing massive neonatal aspiration syndrome tmpte7i6ely_mondo_relaxed.owl SCTID:10269001 owl:Class MONDO:0024263 biolink:NamedThing neonatal aspiration syndrome Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. tmpte7i6ely_mondo_relaxed.owl NCIT:C118312|UMLS:C0349468|SCTID:276533002 Editor note: TODO axiomatize using ECTO owl:Class GO:0050996 biolink:NamedThing positive regulation of lipid catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpte7i6ely_mondo_relaxed.owl up-regulation of lipid catabolic process|positive regulation of lipid catabolism|up regulation of lipid catabolic process|upregulation of lipid catabolic process|positive regulation of lipid breakdown|activation of lipid catabolic process|stimulation of lipid catabolic process|positive regulation of lipid degradation owl:Class MONDO:0003998 biolink:NamedThing vaginal tubular adenoma An adenoma that arises from the vagina and is characterized by a tubular architectural pattern. tmpte7i6ely_mondo_relaxed.owl vaginal tubular adenoma UMLS:C1519932|NCIT:C40257|DOID:6809 owl:Class MONDO:0024660 biolink:NamedThing tubular adenoma A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum. tmpte7i6ely_mondo_relaxed.owl tubular adenoma|adenoma, tubular cell, benign ICDO:8211/0|UMLS:C0334292|SCTID:444408007|NCIT:C4133 owl:Class GO:0003676 biolink:NamedThing nucleic acid binding Binding to a nucleic acid. tmpte7i6ely_mondo_relaxed.owl base pairing owl:Class GO:1901363 biolink:NamedThing heterocyclic compound binding Binding to heterocyclic compound. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023165 biolink:NamedThing florid cystic endosalpingiosis of the uterus tmpte7i6ely_mondo_relaxed.owl intramural florid cystic endosalpingiosis of the uterus|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|florid cystic endosalpingiosis|cystic endosalpingiosis of the uterus UMLS:C2931410|MESH:C537064|GARD:0000130 https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus owl:Class MONDO:0001283 biolink:NamedThing endosalpingiosis A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain. tmpte7i6ely_mondo_relaxed.owl endosalpingiosis DOID:11427|NCIT:C40121|UMLS:C0269106|SCTID:55850004 owl:Class UBERON:0011156 biolink:NamedThing facial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011158 biolink:NamedThing primary subdivision of skull tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2472 biolink:NamedThing CSRP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016153 biolink:NamedThing qualitative or quantitative defects of TRIM32 tmpte7i6ely_mondo_relaxed.owl Orphanet:207107 owl:Class GO:0046434 biolink:NamedThing organophosphate catabolic process The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound. tmpte7i6ely_mondo_relaxed.owl organophosphate degradation|organophosphate breakdown|organophosphate catabolism owl:Class GO:0019637 biolink:NamedThing organophosphate metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. tmpte7i6ely_mondo_relaxed.owl organophosphate metabolism owl:Class MONDO:0006208 biolink:NamedThing fallopian tube serous adenocarcinoma A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl fallopian tube serous adenocarcinoma DOID:5598|EFO:1000253|NCIT:C40099|UMLS:C1517124 owl:Class MONDO:0002746 biolink:NamedThing fallopian tube adenocarcinoma A carcinoma that arises from glandular epithelial cells of the fallopian tube tmpte7i6ely_mondo_relaxed.owl fallopian tube adenocarcinoma|adenocarcinoma of fallopian tube|adenocarcinoma of the fallopian tube NCIT:C6265|DOID:3706|UMLS:C1333590 owl:Class MONDO:0016565 biolink:NamedThing syndromic genetic obesity tmpte7i6ely_mondo_relaxed.owl syndrome associated with obesity (disease)|syndromic obesity (disease) UMLS:CN226963|Orphanet:240371 owl:Class MONDO:0002254 biolink:NamedThing syndromic disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. tmpte7i6ely_mondo_relaxed.owl syndrome|symptom clusters|syndrome associated with disease or disorder|syndromic disease or disorder|syndromes|symptom cluster|clusters, symptom|cluster, symptom|syndromic disease NCIT:C28193|DOID:225|SCTID:64572001|MESH:D013577|OGMS:0000086|UMLS:C0039082 owl:Class ENVO:01000406 biolink:NamedThing snow Snow is an environmental material which is primarily composed of flakes of crystalline water ice. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00010483 biolink:NamedThing environmental material A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. tmpte7i6ely_mondo_relaxed.owl portion of environmental material|environmental owl:Class MONDO:0010927 biolink:NamedThing orofacial cleft 3 tmpte7i6ely_mondo_relaxed.owl OFC3|orofacial cleft 3|cleft lip with or without cleft palate, nonsyndromic, 3 MESH:C563448|DOID:0080397|OMIM:600757|Orphanet:1991|UMLS:C1833369 owl:Class MONDO:0016043 biolink:NamedThing isolated cleft lip Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. tmpte7i6ely_mondo_relaxed.owl isolated cleft lip (disease)|nonsyndromic cleft lip (disease) OMIM:129400|OMIM:608874|OMIM:608371|ICD10:Q36.9|ICD10:Q36.0|Orphanet:199302|MedDRA:10009259|OMIM:600757|ICD10:Q36.1|OMIM:610361|OMIM:225060|OMIM:602966|OMIM:119530|OMIM:612858 owl:Class MONDO:0011909 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate D Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. tmpte7i6ely_mondo_relaxed.owl MPZ Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy dominant intermediate D|autosomal dominant intermediate Charcot-Marie-Tooth disease type D|Charcot Marie Tooth disease dominant intermediate 3|DI-CMTD|Charcot-Marie-Tooth neuropathy, dominant Intermediate D|CMTDID|Charcot-Marie-Tooth disease, dominant intermediate D|Charcot-Marie-Tooth disease caused by mutation in MPZ|Charcot-Marie-Tooth disease dominant intermediate type D|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|Di-Cmtd|Charcot-Marie-Tooth disease, dominant Intermediate type D SCTID:765747004|GARD:0009207|DOID:0110200|Orphanet:100046|MESH:C564333|UMLS:C1843075|OMIM:607791|ICD10:G60.0 owl:Class MONDO:0019548 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. tmpte7i6ely_mondo_relaxed.owl intermediate Charcot-Marie-Tooth disease, autosomal dominant|autosomal dominant intermediate Charcot-Marie-Tooth|CMTDI|autosomal dominant intermediate Charcot-Marie-Tooth disease ICD10:G60.0|GARD:0012436|Orphanet:90114|UMLS:CN206376 owl:Class MONDO:0019227 biolink:NamedThing inborn disorder of glycerol metabolism An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn glycerol metabolic process disorder|disorder of glycerol metabolism|inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process Orphanet:79179 owl:Class MONDO:0037807 biolink:NamedThing glycerol metabolism disease A disease that has its basis in the disruption of glycerol metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of glycerol metabolic process|glycerol metabolic process disease|disorder of glycerol metabolism UMLS:C0342762|SCTID:237977000 owl:Class MONDO:0021629 biolink:NamedThing uterine ligament neoplasm A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl tumor of the uterine ligament|tumor of uterine ligament|uterine ligament tumor|neoplasm of the uterine ligament|neoplasm of uterine ligament|uterine ligament neoplasm (disease)|uterine ligament neoplasm UMLS:C1519870|NCIT:C40133 owl:Class MONDO:0021230 biolink:NamedThing uterine cervix neoplasm A neoplasm (disease) that involves the uterine cervix. tmpte7i6ely_mondo_relaxed.owl tumor of the cervix uteri|neoplasm of cervix|Cervical neoplasm|tumor of cervix|tumor of the uterine cervix|neoplasm of uterine cervix|neoplasm of cervix uteri|uterine cervix neoplasm (disease)|uterine cervix tumor|tumor of cervix uteri|cervix uteri neoplasm|tumor of uterine cervix|cervical tumor|tumor of the cervix|neoplasm of the uterine cervix|cervix|cervix tumor|neoplasm of the cervix|neoplasm of the cervix uteri|cervix neoplasm|cervix uteri tumor ONCOTREE:CERVIX|NCIT:C2940 owl:Class MONDO:0006330 biolink:NamedThing ossifying fibromyxoid tumor A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. tmpte7i6ely_mondo_relaxed.owl ossifying fibromyxoid neoplasm|OFMT|ossifying fibromyxoid tumor (morphologic abnormality)|ossifying fibromyxoma DOID:2685|UMLS:C1266128|ONCOTREE:OFMT|NCIT:C6582|ICDO:8842/0|SCTID:404076001|EFO:1000408 owl:Class MONDO:0037745 biolink:NamedThing fibromyxoid tumor A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. tmpte7i6ely_mondo_relaxed.owl fibromyxoid tumor|fibromyxoma, benign|fibromyxoid neoplasm|fibromyxoma ICDO:8811/0|NCIT:C66760 owl:Class NCBITaxon:1511900 biolink:NamedThing Primate erythroparvovirus 1 tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40121 biolink:NamedThing Erythroparvovirus tmpte7i6ely_mondo_relaxed.owl Erythrovirus GC_ID:1 ncbi_taxonomy owl:Class GO:0046649 biolink:NamedThing lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045321 biolink:NamedThing leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. tmpte7i6ely_mondo_relaxed.owl leucocyte activation|immune cell activation owl:Class HGNC:2208 biolink:NamedThing COL4A6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045033 biolink:NamedThing opportunistic systemic mycosis A mycosis that arises from infection in an immunologically compromised host and is systemic. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002312 biolink:NamedThing opportunistic mycosis A mycosis that arises from infection in an immunologically compromised host. tmpte7i6ely_mondo_relaxed.owl opportunistic mycoses|opportunistic systemic mycoses DOID:2473|SCTID:78999002|ICD9:117.9|UMLS:C0029119|ICD9:118 owl:Class MONDO:0012414 biolink:NamedThing neuronal ceroid lipofuscinosis 10 A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpte7i6ely_mondo_relaxed.owl CLN10|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|CLN10 disease, late infantile (subtype)|CLN10-NCL|CLN10 disease, adult (subtype)|neuronal ceroid lipofuscinosis type 10|ceroid lipofuscinosis, neuronal, 10|neuronal ceroid lipofuscinosis caused by mutation in CTSD|Cathepsin D deficiency|CLN10 disease|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|CLN10 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis cathepsin D-deficient|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|neuronal ceroid lipofuscinosis, congenital|ceroid lipofuscinosis neuronal Cathepsin D-deficient|CLN10 disease, congenital (subtype)|ceroid lipofuscinosis, neuronal, type 10|CTSD neuronal ceroid lipofuscinosis Orphanet:79264|Orphanet:168486|GARD:0001218|Orphanet:228337|SCTID:720831008|Orphanet:79262|OMIM:610127|ICD10:E75.4|MESH:C566438|DOID:0110725|Orphanet:168491 https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 owl:Class MONDO:0016295 biolink:NamedThing neuronal ceroid lipofuscinosis A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. tmpte7i6ely_mondo_relaxed.owl ceroid lipofuscinoses|NCL|neuronal ceroid lipofuscinosis|hereditary ceroid lipofuscinosis Orphanet:216|GARD:0010739|OMIMPS:256730|NCIT:C61257|SCTID:42012007|DOID:14503|Orphanet:79262|ICD10:E75.4|UMLS:C0027877 owl:Class MONDO:0018827 biolink:NamedThing familial chilblain lupus An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary chilblain lupus|hereditary Chilblain lupus OMIMPS:610448|UMLS:CN776917|Orphanet:481662 owl:Class MONDO:0019557 biolink:NamedThing chilblain lupus A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. tmpte7i6ely_mondo_relaxed.owl CHLE|Hutchinson lupus MedDRA:10025141|OMIM:614415|OMIM:610448|ICD10:L93.2|Orphanet:90280|UMLS:C0024145|UMLS:CN239336|DOID:0060386 Editor note: ORDO classifies as genetic and has a separate subclass for familiar form owl:Class GO:0032409 biolink:NamedThing regulation of transporter activity Any process that modulates the activity of a transporter. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0065009 biolink:NamedThing regulation of molecular function Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpte7i6ely_mondo_relaxed.owl regulation of a molecular function owl:Class MONDO:0021515 biolink:NamedThing benign neoplasm of ethmoidal sinus A benign neoplasm that involves the ethmoid sinus. tmpte7i6ely_mondo_relaxed.owl benign ethmoid sinus neoplasm|benign ethmoid sinus tumor|benign tumor of the ethmoidal sinus|benign ethmoidal sinus neoplasm|ethmoid sinus benign neoplasm|benign ethmoidal sinus tumor|benign neoplasm of ethmoid sinus|benign neoplasm of the ethmoidal sinus|benign tumor of the ethmoid sinus|benign tumor of ethmoid sinus|benign neoplasm of the ethmoid sinus|benign tumor of ethmoidal sinus UMLS:C0345670|SCTID:92093000|NCIT:C4417|ICD9:212.0 owl:Class MONDO:0005165 biolink:NamedThing benign neoplasm A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl cell type benign neoplasm|neoplasm (disease), benign|benign unclassifiable tumor|neoplasm, benign|benign neoplasm|organ system benign neoplasm|benign tumor|benign neoplasm (disease) ICD10:D10.D36|ICDO:8000/0|NCIT:C3677|ICD9:229.8|ICD9:210-229.99|ICD9:229.9|SCTID:20376005|DOID:0060072|DOID:0060084|EFO:0002422|DOID:0060085 Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 owl:Class HGNC:3049 biolink:NamedThing DSG2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003563 biolink:NamedThing telencephalon dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003561 biolink:NamedThing forebrain dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001213 biolink:NamedThing negative regulation of vasculogenesis Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis. tmpte7i6ely_mondo_relaxed.owl negative regulation of vascular morphogenesis owl:Class GO:2001212 biolink:NamedThing regulation of vasculogenesis Any process that modulates the frequency, rate or extent of vasculogenesis. tmpte7i6ely_mondo_relaxed.owl regulation of vascular morphogenesis owl:Class MONDO:0006762 biolink:NamedThing freemartinism A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). tmpte7i6ely_mondo_relaxed.owl EFO:1000939|UMLS:C0016697|MESH:D005611|DOID:4671 owl:Class MONDO:0024913 biolink:NamedThing cattle disease Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. tmpte7i6ely_mondo_relaxed.owl diseases, bovine|cattle disease|bovine diseases|disease, cattle|bovine disease|diseases, cattle|disease, bovine MESH:D002418|UMLS:C0007453 owl:Class UBERON:0002146 biolink:NamedThing pulmonary valve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005623 biolink:NamedThing semi-lunar valve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048519 biolink:NamedThing negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpte7i6ely_mondo_relaxed.owl down-regulation of biological process|inhibition of biological process|downregulation of biological process|negative regulation of physiological process|down regulation of biological process owl:Class GO:0050789 biolink:NamedThing regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpte7i6ely_mondo_relaxed.owl regulation of physiological process owl:Class MONDO:0016439 biolink:NamedThing elastoderma Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery. tmpte7i6ely_mondo_relaxed.owl UMLS:C0406555|ICD9:701.8|SCTID:238832003|GARD:0012716|Orphanet:228240 https://rarediseases.info.nih.gov/diseases/12716/elastoderma owl:Class MONDO:0006096 biolink:NamedThing atypical endometrial hyperplasia An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear. tmpte7i6ely_mondo_relaxed.owl atypical hyperplasia of endometrium|endometrial hyperplasia with atypia|atypical hyperplasia of the endometrium ICD9:621.33|EFO:1000098|SCTID:277158007|NCIT:C4654|UMLS:C0349579 owl:Class MONDO:0005043 biolink:NamedThing hyperplasia An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. tmpte7i6ely_mondo_relaxed.owl hyperplasia|hyperplastic MESH:D006965|NCIT:C3113|EFO:0000536 owl:Class ENVO:01000295 biolink:NamedThing marine layer A layer that is part of a marine water body. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000325 biolink:NamedThing aquatic layer A layer in a water mass, itself composed primarily of water. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019285 biolink:NamedThing syndromic nail anomaly A nail anomaly that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with nail anomaly|syndromic nail anomaly Orphanet:79370|UMLS:CN227613 owl:Class MONDO:0007341 biolink:NamedThing cleidorhizomelic syndrome Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle|Wallis Zieff Goldblatt syndrome|Wallis-Zieff-Goldblatt syndrome|rhizomelic shortness with clavicular defect|cleido rhizomelic syndrome|cleidorhizomelic syndrome UMLS:C1861515|Orphanet:1453|ICD10:Q77.8|OMIM:119650|GARD:0005532|SCTID:719471002|MESH:C536428 https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome owl:Class MONDO:0019697 biolink:NamedThing mesomelic and rhizo-mesomelic dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93438|UMLS:CN229208 owl:Class MONDO:0007797 biolink:NamedThing hypoparathyroidism-deafness-renal disease syndrome The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. tmpte7i6ely_mondo_relaxed.owl nephrosis, nerve deafness, and hypoparathyroidism|HDR syndrome|hypoparathyroidism, sensorineural deafness, and renal disease|Barakat syndrome|hypoparathyroidism-deafness-renal disease syndrome|hypoparathyroidism, deafness, and renal anomalies syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia|HDR|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome OMIM:146255|Orphanet:2237|SCTID:724282009|NCIT:C130983|DOID:0060878|MESH:C537907|ICD10:Q87.8|UMLS:C1840333|GARD:0002911 owl:Class MONDO:0019589 biolink:NamedThing syndromic genetic hearing loss tmpte7i6ely_mondo_relaxed.owl syndromic genetic deafness|syndromic hearing loss SCTID:232333009|ICD10:H90.3|Orphanet:90642|UMLS:CN206426 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0010572 biolink:NamedThing occipital horn syndrome Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. tmpte7i6ely_mondo_relaxed.owl EDS IX (formerly)|Ehlers-Danlos syndrome, occipital horn type|Ehlers-Danlos syndrome, occipital horn type (formerly)|EDS9, formerly|cutis laxa X-linked|EDS IX|Ehlers-Danlos syndrome, occipital horn type, formerly|Ehlers-Danlos syndrome type IX|occipital horn syndrome|cutis laxa, X-linked|OHS|EDS9|Ehlers-Danlos syndrome type 9|EDS IX, formerly|X-linked cutis laxa|cutis laxa, X-linked, formerly SCTID:59399004|GARD:0004017|OMIM:304150|MESH:C537860|Orphanet:198|DOID:0111272|ICD10:E83.0 owl:Class MONDO:0043007 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Orphanet:330197 owl:Class MONDO:0009447 biolink:NamedThing ichthyosis, split hairs, and amino aciduria tmpte7i6ely_mondo_relaxed.owl ichthyosis, split hairs, and amino aciduria UMLS:C1855786|OMIM:242550|MESH:C565471 owl:Class MONDO:0005757 biolink:NamedThing eumycotic mycetoma A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. tmpte7i6ely_mondo_relaxed.owl maduromycosis|mycotic mycetoma|eumycetoma|Maduromycosis, mycotic|Madura foot EFO:0007265|SCTID:410038006|ICD10:B47.9|ICD10:B47|DOID:13078|ICD9:117.4 owl:Class MONDO:0002040 biolink:NamedThing dermatomycosis Superficial infections of the skin or its appendages by any of various fungi. tmpte7i6ely_mondo_relaxed.owl SCTID:47382004|DOID:1563|UMLS:C0011630|MESH:D003881|ICD9:111.9|ICD9:111 owl:Class MONDO:0000001 biolink:NamedThing disease or disorder A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. tmpte7i6ely_mondo_relaxed.owl condition|disease or disorder, non-neoplastic|diseases|medical condition|disorders|disorder|disease or disorder|diseases and disorders|disease|other disease ICD9:799.9|Orphanet:377788|DOID:4|OGMS:0000031|NCIT:C2991|UMLS:C0012634|SCTID:64572001|EFO:0000408|MESH:D004194 owl:Class HGNC:4892 biolink:NamedThing HGD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001282 biolink:NamedThing fallopian tube endometriosis Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse. tmpte7i6ely_mondo_relaxed.owl fallopian tube endometriosis (disease)|fallopian tube endometriosis|endometriosis (disease) of fallopian tube|endometriosis of fallopian tube UMLS:C0014177|SCTID:22611009|ICD10:N80.2|NCIT:C26763|DOID:11424|ICD9:617.2 owl:Class MONDO:0002156 biolink:NamedThing fallopian tube disorder A disease involving the fallopian tube. tmpte7i6ely_mondo_relaxed.owl disorder of fallopian tube|disease of fallopian tube|fallopian tube disease|disease or disorder of fallopian tube|fallopian tube disorder|fallopian tube disease or disorder UMLS:C0015556|DOID:1962|MESH:D005184|NCIT:C26771|SCTID:128134005 owl:Class GO:0002695 biolink:NamedThing negative regulation of leukocyte activation Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. tmpte7i6ely_mondo_relaxed.owl down-regulation of leukocyte activation|negative regulation of immune cell activation|downregulation of leukocyte activation|inhibition of leukocyte activation|down regulation of leukocyte activation|negative regulation of leucocyte activation owl:Class MONDO:0006015 biolink:NamedThing Waterhouse-Friderichsen syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. tmpte7i6ely_mondo_relaxed.owl Waterhouse–Friderichsen syndrome|fatal pneumococcal Waterhouse-Friderichsen syndrome|meningococcal hemorrhagic adrenalitis|WFS EFO:0007544|ICD9:036.3|DOID:9931|NCIT:C85225|ICD10:E35.1*|SCTID:36102002|ICD10:A39.1|UMLS:C0043068|ICD10:A39.1+|MedDRA:10047847|MESH:D014884|GARD:0009449|Orphanet:100067 owl:Class MONDO:0019801 biolink:NamedThing acute adrenal insufficiency Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. tmpte7i6ely_mondo_relaxed.owl acute adrenocortical insufficiency|acute adrenal failure|adrenocortical crisis|Addisonian crisis|adrenal crisis SCTID:24867002|Orphanet:95409|NCIT:C112840|UMLS:C0151467|ICD10:E27.2|ICD9:255.41 owl:Class FOODON:00002403 biolink:NamedThing food material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience tmpte7i6ely_mondo_relaxed.owl sustenance|food|nourishment|foodstuff owl:Class MONDO:0016790 biolink:NamedThing tricarboxylic acid cycle disorder An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle. tmpte7i6ely_mondo_relaxed.owl TCA cycle disorder|citric acid cycle disorder|inborn error of tricarboxylic acid cycle|Krebs cycle disorder|inborn tricarboxylic acid cycle disorder|rare inborn error of tricarboxylic acid cycle UMLS:CN227000|Orphanet:254749|ICD10:E88.8 owl:Class MONDO:0019243 biolink:NamedThing inborn disorder of energy metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. tmpte7i6ely_mondo_relaxed.owl inborn generation of precursor metabolites and energy disorder|inborn error of generation of precursor metabolites and energy|rare inborn error of generation of precursor metabolites and energy|disorder of energy metabolism Orphanet:79200|UMLS:CN227604 owl:Class NCBITaxon:232795 biolink:NamedThing Dicistroviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:464095 biolink:NamedThing Picornavirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018705 biolink:NamedThing infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome tmpte7i6ely_mondo_relaxed.owl axonal neuropathy-optic atrophy-cognitive deficit syndrome|ANOAC Orphanet:457205|UMLS:CN242083 owl:Class MONDO:0019601 biolink:NamedThing autosomal recessive axonal hereditary motor and sensory neuropathy Autosomal recessive form of axonal hereditary motor and sensory neuropathy. tmpte7i6ely_mondo_relaxed.owl AR-CMT2|axonal hereditary motor and sensory neuropathy, autosomal recessive|autosomal recessive axonal Charcot-Marie-Tooth disease type 2 ICD10:G60.0|Orphanet:91024|UMLS:CN206449 owl:Class MONDO:0042485 biolink:NamedThing infective arthritis The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpte7i6ely_mondo_relaxed.owl septic arthritis|infective arthritis NCIT:C26700|GARD:0006781 owl:Class MONDO:0005550 biolink:NamedThing infectious disease A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. tmpte7i6ely_mondo_relaxed.owl transmissible disease|infection|infectious disorder|disease by infectious agent|infectious|communicable disease|infectious diseases and manifestations|clinical infection|infectious disease IDO:0000436|SCTID:40733004|ICD9:079.0|EFO:0005741|DOID:0050117|NCIT:C26726|MESH:D003141|ICD9:136.9|ICD9:136.8|ICD10:A00.B99 Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. owl:Class CL:0002187 biolink:NamedThing basal cell of epidermis A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane. tmpte7i6ely_mondo_relaxed.owl FMA:70571 tmeehan 2010-08-26T03:12:49Z CL:1000439 cell owl:Class CL:0000646 biolink:NamedThing basal cell Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. tmpte7i6ely_mondo_relaxed.owl FMA:62516|BTO:0000939 cell owl:Class MONDO:0009123 biolink:NamedThing dopamine beta-hydroxylase deficiency Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. tmpte7i6ely_mondo_relaxed.owl dopamine beta-hydroxylase deficiency|noradrenaline deficiency|congenital dopamine beta-hydroxylase deficiency|norepinephrine deficiency|dopamine BETA-HYDROXYLASE deficiency, congenital|dopamine beta hydroxylase deficiency GARD:1903|SCTID:237923004|ICD9:270.8|MESH:C535600|Orphanet:230|DOID:0090145|ICD10:G90.8|OMIM:223360|UMLS:C0342687|GARD:0001903 https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency owl:Class MONDO:0021272 biolink:NamedThing inherited orthostatic hypotension tmpte7i6ely_mondo_relaxed.owl OMIMPS:223360 owl:Class MONDO:0013155 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|congenital muscular dystrophy-POMGNT1 related|MDDGB3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|muscular dystrophy, congenital, POMGNT1-related OMIM:613151|Orphanet:370959|UMLS:C3150412 owl:Class MONDO:0018277 biolink:NamedThing congenital muscular dystrophy with cerebellar involvement tmpte7i6ely_mondo_relaxed.owl CMD with cerebellar involvement|CMD-CRB OMIM:613151|OMIM:613156|OMIM:615351|OMIM:606612|ICD10:G71.2|Orphanet:370959|OMIM:613155 owl:Class GO:0007517 biolink:NamedThing muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061061 biolink:NamedThing muscle structure development The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009263 biolink:NamedThing gapo syndrome GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations tmpte7i6ely_mondo_relaxed.owl Growth retardation, alopecia, pseudoanodontia and optic atrophy|Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|Growth retardation, alopecia, pseudoanodontia, and optic atrophy|gapo syndrome GARD:0000400|OMIM:230740|ICD10:Q87.8|Orphanet:2067|SCTID:721843003 https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome owl:Class UBERON:0011677 biolink:NamedThing trunk vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003463 biolink:NamedThing trunk bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016759 biolink:NamedThing pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty. tmpte7i6ely_mondo_relaxed.owl PCH2|progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy Orphanet:2524|NCIT:C124057|UMLS:C2932714|OMIM:612390|OMIM:612389|OMIM:617026|SCTID:715463008|ICD10:Q04.3|OMIM:277470|GARD:0010705|MESH:C548070|OMIM:613811 https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 owl:Class MONDO:0020135 biolink:NamedThing pontocerebellar hypoplasia Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. tmpte7i6ely_mondo_relaxed.owl isolated pontocerebellar hypoplasia|PCH|pontoneocerebellar atrophy|pontoneocerebllar hypoplasia|nonsyndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia Orphanet:98523|GARD:0010977|MESH:C580383|OMIMPS:607596|SCTID:45163000|UMLS:CN924922|ICD10:Q04.3|DOID:0060264 https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia owl:Class UBERON:0009692 biolink:NamedThing lumen of pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002558 biolink:NamedThing organ cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010235 biolink:NamedThing uvular muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003682 biolink:NamedThing palatal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015197 biolink:NamedThing aneurysm of sinus of Valsalva Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. tmpte7i6ely_mondo_relaxed.owl sinus of Valsalva aneurysm|SVA SCTID:54160000|ICD9:747.29|ICD10:Q25.4|UMLS:CN197542|GARD:0000670|Orphanet:1054 https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva owl:Class MONDO:0020293 biolink:NamedThing ascending aorta anomaly tmpte7i6ely_mondo_relaxed.owl ICD10:Q25.4|Orphanet:98725 owl:Class MONDO:0003003 biolink:NamedThing cervical alveolar soft part sarcoma An alveolar soft part sarcoma arising from the cervix. tmpte7i6ely_mondo_relaxed.owl DOID:4442|NCIT:C40225|UMLS:C1516408 owl:Class MONDO:0011655 biolink:NamedThing alveolar soft part sarcoma An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. tmpte7i6ely_mondo_relaxed.owl alveolar soft PART sarcoma|alveolar soft Part sarcoma|adult alveolar soft Part sarcoma|pediatric alveolar soft Part sarcoma|alveolar soft part sarcoma (disease)|alveolar soft part sarcoma|ASPS|childhood alveolar soft part sarcoma|alveolar soft-part sarcoma|alveolar soft tissue sarcoma|alveolar soft-tissue sarcoma|adult alveolar soft-Part sarcoma|adult alveolar soft part sarcoma alveolar soft part sarcoma (disease) NCIT:C3750|Orphanet:163699|HP:0012218|ICD10:C49.9|EFO:0007143|ONCOTREE:ASPS|NCIT:C7943|DOID:4239|UMLS:C0279544|UMLS:C0206657|MESH:D018234|SCTID:404056007|ICDO:9581/3|ICD9:171.9|MedDRA:10001882|GARD:0005654|OMIM:606243 owl:Class MONDO:0021090 biolink:NamedThing lipid-rich breast carcinoma An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. tmpte7i6ely_mondo_relaxed.owl lipid secreting breast carcinoma|lipid-rich breast carcinoma|breast lipid-rich carcinoma NCIT:C40365|UMLS:C1517894|DOID:7076 owl:Class MONDO:0003982 biolink:NamedThing bilateral breast carcinoma Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. tmpte7i6ely_mondo_relaxed.owl bilateral breast carcinoma|bilateral breast cancer DOID:6741|UMLS:C0281267|NCIT:C8287 owl:Class CHEBI:24431 biolink:NamedThing chemical entity A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. tmpte7i6ely_mondo_relaxed.owl chemical entity owl:Class BFO:0000030 biolink:NamedThing object tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005404 biolink:NamedThing myalgic encephalomeyelitis/chronic fatigue syndrome A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. tmpte7i6ely_mondo_relaxed.owl myalgic encephalitis|chronic fatigue immune dysfunction syndrome|myalgic encephalomyelitis|systemic exertion intolerance disease|Postviral fatigue syndrome|CFS|chronic fatigue syndrome UMLS:C0015674|MESH:D015673|ICD9:780.79|DOID:8544|EFO:0004540|Orphanet:1983|ICD9:780.71|NCIT:C3037|ICD10:R53.82|SCTID:51771007|ICD10:G93.3 owl:Class MONDO:0005218 biolink:NamedThing muscular disorder Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. tmpte7i6ely_mondo_relaxed.owl muscle organ disease or disorder|disease of muscle organ|disease or disorder of muscle organ|muscle organ disease|disorder of muscle organ EFO:0002970|MESH:D009135|DOID:0080000 Editor note: consider merging with child owl:Class MONDO:0015605 biolink:NamedThing distal monosomy 9p Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. tmpte7i6ely_mondo_relaxed.owl distal deletion 9p|monosomy 9pter|distal monosomy type 9p|telomeric deletion 9p MESH:C538025|ICD10:Q93.5|SCTID:763530000|Orphanet:1642 owl:Class MONDO:0008013 biolink:NamedThing chromosome 9p deletion syndrome Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. tmpte7i6ely_mondo_relaxed.owl monosomy type 9p|9p- syndrome|9p syndrome|deletion 9p|9p deletion|partial deletion of the short arm of chromosome 9|partial monosomy of chromosome 9p|partial deletion of chromosome 9p|partial deletion of the short arm of chromosome type 9|9p deletion syndrome|chromosome 9p deletion|monosomy 9p syndrome|monosomy 9p|partial monosomy 9p|9p monosomy|Alfi syndrome|partial monosomy of the short arm of chromosome 9 GARD:0003773|SCTID:62599000|ICD10:Q93.5|Orphanet:261112|ICD9:758.39|MESH:C538024|OMIM:158170|DOID:0060732 owl:Class MONDO:0003218 biolink:NamedThing adenocarcinoma in situ A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. tmpte7i6ely_mondo_relaxed.owl AIS|adenocarcinoma in situ UMLS:C0334276|ONCOTREE:AIS|DOID:4943|NCIT:C4123|ICDO:8140/2|MESH:D065311 owl:Class MONDO:0004647 biolink:NamedThing in situ carcinoma A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. tmpte7i6ely_mondo_relaxed.owl epithelial tumor, in situ, malignant|carcinoma in situ|stage 0 disease|CIS|non-invasive carcinoma|carcinoma, in situ, malignant|intraepithelial carcinoma ICDO:8010/2|DOID:8719|NCIT:C2917|UMLS:C0007099|SCTID:109355002|ICD9:230-234.99|ICD9:234.8|ICD10:D09.9|ICD9:234.9|MESH:D002278 Editor note: check pre-malignant vs malignant owl:Class UBERON:0000060 biolink:NamedThing anatomical wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000064 biolink:NamedThing organ part tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24431 biolink:NamedThing KRT75 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010507 biolink:NamedThing layer of dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004923 biolink:NamedThing organ component layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014904 biolink:NamedThing congenital disorder of glycosylation, type IAA tmpte7i6ely_mondo_relaxed.owl CDG1AA|congenital disorder of glycosylation, type IAA; CDG1AA|congenital disorder of glycosylation, type IAA OMIM:617082|UMLS:C4310727|DOID:0080553 owl:Class MONDO:0005500 biolink:NamedThing congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. tmpte7i6ely_mondo_relaxed.owl ALG12-CDG (CDG-1g)|ALG11-CDG|ALG1-CDG|ALG8-CDG (CDG-1h)|ALG9-CDG|RFT1-CDG|PMM2-CDG (CDG-1a)|SRD5A3-CDG|PMM2-CDG|ALG3-CDG (CDG-1d)|DOLK-CDG|DPAGT1-CDG|DPM3-CDG|ALG1-CDG (CDG-1k)|DPM2-CDG|congenital disorders of glycosylation, type I|DPM3-CDG (CDG-1o)|MPI-CDG|ALG3-CDG|MPDU1-CDG|ALG6-CDG|RFT1-CDG (CDG-1n)|DOLK-CDG (CDG-1m)|ALG12-CDG|ALG11-CDG (CDG-1p)|DPM1-CDG (CDG-1e)|ALG9-CDG (CDG-1l)|ALG2-CDG|ALG6-CDG (CDG-1c)|ALG2-CDG (CDG-1i)|ALG8-CDG|MPI-CDG (CDG-1b)|SRD5A3-CDG (CDG-1q)|DPAGT1-CDG (CDG-1j)|DPM1-CDG|DPM2-CDG (CDG-1u)|MPDU1-CDG (CDG-1f) DOID:0050570|OMIMPS:212065|EFO:0005545 owl:Class MONDO:0008828 biolink:NamedThing camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. tmpte7i6ely_mondo_relaxed.owl congenital familial hypertrophic synovitis|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|fibrosing serositis, familial|hypertrophic synovitis, congenital familial|CACP syndrome|pericarditis-arthropathy-camptodactyly syndrome|arthropathy-camptodactyly syndrome|camptodactyly-arthropathy-coxa vara-pericarditis syndrome|Jacobs syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|arthropathy camptodactyly syndrome|CACP|camptodactyly arthropathy pericarditis syndrome|pericarditis arthropathy camptodactyly syndrome|familial fibrosing serositis|PAC syndrome|camptodactyly-arthropathy-pericarditis syndrome|Cap syndrome OMIM:208250|GARD:0000306|Orphanet:2848|DOID:0090127|EFO:0009028|MESH:C537560 https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome owl:Class MONDO:0006025 biolink:NamedThing autosomal recessive disease Autosomal recessive form of disease. tmpte7i6ely_mondo_relaxed.owl autosomal recessive inherited disorder|autosomal recessive inherited disease|disease or disorder, autosomal recessive|autosomal recessive hereditary disease|recessive hereditary disorder (autosomal)|disease, autosomal recessive|autosomal recessive hereditary disorder|autosomal recessive disease or disorder DOID:0050737|ICD9:758.5|SCTID:85995004|EFO:1000017|UMLS:C0265388 owl:Class MONDO:0015151 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant Autosomal dominant form of limb-girdle muscular dystrophy. tmpte7i6ely_mondo_relaxed.owl autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, autosomal dominant|limb-girdle muscular dystrophy, autosomal dominant OMIMPS:603511|UMLS:CN043626|ICD10:G71.0|Orphanet:102014|DOID:0110273|UMLS:CN228919 owl:Class MONDO:0016971 biolink:NamedThing limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. tmpte7i6ely_mondo_relaxed.owl Leyden-Mbius muscular dystrophy|erb's muscular dystrophy|Leyden-Mobius muscular dystrophy|limb girdle muscular dystrophy|limb-girdle muscular dystrophy|LGMD NCIT:C84828|SCTID:78468005|GARD:0006907|UMLS:C0270950|UMLS:C0686353|MESH:D049288|ICD10:G71.0|DOID:11724|Orphanet:263 https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy owl:Class MONDO:0021068 biolink:NamedThing ovarian neoplasm A benign, borderline, or malignant neoplasm involving the ovary. tmpte7i6ely_mondo_relaxed.owl neoplasm of ovary|ovarian tumor|tumor of ovary|ovarian tumors|ovary tumor|tumor of the ovary|ovary neoplasm (disease)|ovary neoplasm|neoplasm of the ovary|ovarian neoplasm UMLS:CN236629|ICD9:239.5|NCIT:C4984|SCTID:123843001 owl:Class MONDO:0005558 biolink:NamedThing ovarian disorder A disease involving the ovary. tmpte7i6ely_mondo_relaxed.owl disease of ovary|disorder of ovary|ovary disease or disorder|ovary disease|ovarian disorder|disease or disorder of ovary|ovarian disease UMLS:C0029928|SCTID:5552004|MESH:D010049|DOID:1100|NCIT:C26841|EFO:0005771 owl:Class MONDO:0008740 biolink:NamedThing agnathia-otocephaly complex Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. tmpte7i6ely_mondo_relaxed.owl dysgnathia complex agnathia-holoprosencephaly|holoprosencephaly-agnathia|agnathia-otocephaly complex|agnathia-holoprosencephaly-situs inversus syndrome|otocephaly|Dysgnathia Complex agnathia-holoprosencephaly|agnathia-holoprosencephaly|AGOTC UMLS:CN207252|SCTID:48180002|Orphanet:990|ICD10:Q87.8|ICD10:Q18.2|ICD9:759.89|DOID:0060341|OMIM:202650|NCIT:C124568|GARD:0009126 owl:Class MONDO:0001757 biolink:NamedThing frontal sinus neoplasm A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of frontal sinus|tumor of the frontal sinus|frontal sinus neoplasm (disease)|tumor of frontal sinus|frontal sinus tumor|neoplasm of the frontal sinus NCIT:C4419|UMLS:C0345672|DOID:1361|SCTID:126678005 MONDO:0021214 owl:Class MONDO:0005867 biolink:NamedThing Mycoplasma pneumoniae pneumonia Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. tmpte7i6ely_mondo_relaxed.owl Mycoplasmal pneumonia|pneumonia due to Mycoplasma pneumoniae|pneumonia due to Eaton's agent|pneumonia due to Mycoplasma pneumoniae (disorder)|Mycoplasma pneumonia|cold agglutinin positive pneumonia ICD9:483.0|ICD10:J15.7|SCTID:46970008|DOID:13276|NCIT:C122526|EFO:0007387|GARD:0007125|MESH:D011019 owl:Class MONDO:0004652 biolink:NamedThing bacterial pneumonia Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. tmpte7i6ely_mondo_relaxed.owl gram-negative pneumonia|Bacteria pneumonia|pneumonia due to other gram-negative bacteria|Bacteria caused pneumonia MESH:D018410|EFO:1001272|UMLS:C0004626|ICD9:482.89|NCIT:C26704|DOID:874|ICD9:482.9|ICD10:J15.9|SCTID:53084003 owl:Class MONDO:0016267 biolink:NamedThing undifferentiated carcinoma of the corpus uteri Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. tmpte7i6ely_mondo_relaxed.owl body of uterus undifferentiated carcinoma|endometrial undifferentiated carcinoma ICD10:C50|Orphanet:213721 owl:Class MONDO:0005213 biolink:NamedThing uterine carcinoma A carcinoma involving a uterus. tmpte7i6ely_mondo_relaxed.owl carcinoma of uterus|uterus carcinoma UMLS:C2960452|SCTID:446022000|EFO:0002919 owl:Class MONDO:0002098 biolink:NamedThing facial nerve disorder A disease involving the facial nerve. tmpte7i6ely_mondo_relaxed.owl disease of facial nerve|disorder of facial nerve|disorders of the VIIth cranial nerve|facial nerve disorder|facial nerve disease or disorder|disease or disorder of facial nerve|disorders of the seventh nerve|disorder of seventh cranial nerve|facial neuropathy|facial nerve disease SCTID:422426003|NCIT:C27594|ICD9:351.9|ICD9:351|ICD10:G51.9|ICD10:G51|MESH:D005155|UMLS:C0015464|DOID:1756 owl:Class MONDO:0003620 biolink:NamedThing peripheral nervous system disorder A disease involving the peripheral nervous system. tmpte7i6ely_mondo_relaxed.owl peripheral nervous system disorders|peripheral nervous system disorder|PNS (peripheral nervous system) diseases|nerve diseases, peripheral|disease of peripheral nervous system|neuropathy, peripheral|disorder of peripheral nervous system|nerve disease, peripheral|peripheral Neuropathies|peripheral nerve diseases|disease or disorder of peripheral nervous system|PNS disease|peripheral neuropathy|peripheral nerve disease|PNS diseases|peripheral nervous system disease|disorder of the peripheral nervous system|peripheral nervous system disease or disorder NCIT:C27580|MESH:D010523|ICD9:350-359.99|SCTID:42658009|ICD9:356.9|DOID:574|ICD10:G64|NCIT:C119734 owl:Class MONDO:0015443 biolink:NamedThing chromosome 8-derived supernumerary ring/marker Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. tmpte7i6ely_mondo_relaxed.owl R8|chromosome 8 ring|Ring 8|r(8) syndrome|Ring chromosome 8 syndrome|rose cluster 8|ring chromosome 8|supernumerary ring/marker 8 NCIT:C121988|Orphanet:1450|GARD:0001347|ICD10:Q93.2|SCTID:715983001|MESH:C537824|UMLS:CN036129|GTR:AN0101480|GTR:AN0101479 owl:Class MONDO:0700015 biolink:NamedThing chromosome 8 disorder Chromosomal disorder in which chromosome 8 is affected. tmpte7i6ely_mondo_relaxed.owl anomaly of chromosome pair 8 UMLS:C0265418|SCTID:48082007 http://orcid.org/0000-0002-4142-7153 owl:Class HP:0025354 biolink:NamedThing Abnormal cellular phenotype An anomaly of cellular morphology or physiology. tmpte7i6ely_mondo_relaxed.owl 2017-02-13 00:29:35+00:00 HPO:probinson human_phenotype owl:Class HP:0000118 biolink:NamedThing Phenotypic abnormality A phenotypic abnormality. tmpte7i6ely_mondo_relaxed.owl Organ abnormality UMLS:C4021819 This is the root of the phenotypic abnormality subontology of the HPO. human_phenotype owl:Class MONDO:0044651 biolink:NamedThing early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:496756 owl:Class MONDO:0018307 biolink:NamedThing neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. tmpte7i6ely_mondo_relaxed.owl NBIA|neurodegeneration with brain iron accumulation ICD10:G23.0|MESH:C538421|DOID:0110734|GARD:0011899|OMIMPS:234200|Orphanet:385 Editor note: check relationship to PKAN owl:Class MONDO:0002915 biolink:NamedThing childhood infratentorial neoplasm A neoplasm that affects the infratentorial region of the brain and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric infratentorial neoplasm|childhood infratentorial neoplasm|childhood infratentorial neoplasms|childhood infratentorial tumor|infratentorial neoplasm of childhood|pediatric infratentorial tumor|childhood infratentorial tumors DOID:4207|UMLS:C1332973|NCIT:C5802 owl:Class MONDO:0037736 biolink:NamedThing infratentorial neoplasm A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli. tmpte7i6ely_mondo_relaxed.owl neoplasms, infratentorial|infratentorial neoplasm|infratentorial tumors|infratentorial neoplasms|brain neoplasms, infratentorial|infratentorial tumor NCIT:C3139 owl:Class HP:0000223 biolink:NamedThing Abnormality of taste sensation tmpte7i6ely_mondo_relaxed.owl Abnormality of taste sensation UMLS:C4025879 human_phenotype owl:Class HP:0012638 biolink:NamedThing Abnormal nervous system physiology A functional anomaly of the nervous system. tmpte7i6ely_mondo_relaxed.owl Abnormality of nervous system physiology UMLS:C4022811 peter 2014-01-19T08:02:46Z human_phenotype owl:Class MONDO:0016412 biolink:NamedThing peripheral hypothyroidism Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism. tmpte7i6ely_mondo_relaxed.owl Orphanet:226310 owl:Class MONDO:0016408 biolink:NamedThing permanent congenital hypothyroidism Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. tmpte7i6ely_mondo_relaxed.owl Orphanet:226292|ICD10:E03.0|ICD10:E03.1 owl:Class MONDO:0001417 biolink:NamedThing tracheal lymphoma A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor. tmpte7i6ely_mondo_relaxed.owl trachea lymphoma|lymphoma of trachea|lymphoma of the trachea|tracheal lymphoma|primary tracheal lymphoma UMLS:C1336773|NCIT:C6248|DOID:12001 owl:Class MONDO:0005062 biolink:NamedThing lymphoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. tmpte7i6ely_mondo_relaxed.owl lymphoma (Hodgkin and non-Hodgkin)|lymphoma (Hodgkin's and non-Hodgkin's)|malignant lymphoma|lymphoma, malignant|lymphomatous|lymphoma|lymphoid cancer|MLYM ICD9:200.1|UMLS:C0024299|NCIT:C3208|EFO:0000574|DOID:0060058|GARD:0011955|NCIT:C7065|Orphanet:223735|SCTID:188498009|ICD10:C85.9|ICDO:9590/3|OMIM:605027|SCTID:118600007|ICD9:202.80|ICD9:200.0|MESH:D008223|ONCOTREE:MLYM|MedDRA:10025310|UMLS:C0598798 This is potentially too broad as well as overlaps with leukemia and should be obsoleted. owl:Class UBERON:0019042 biolink:NamedThing reproductive system mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000731 biolink:NamedThing urothelial cell A cell of a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria. tmpte7i6ely_mondo_relaxed.owl bladder transitional cell|transitional epithelial cell of urinary bladder|urinary tract transitional epithelial cell FMA:84127 cell owl:Class CL:0000244 biolink:NamedThing transitional epithelial cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. tmpte7i6ely_mondo_relaxed.owl FMA:66778 cell owl:Class MONDO:0008450 biolink:NamedThing spinal arachnoiditis A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. tmpte7i6ely_mondo_relaxed.owl arachnoiditis, spinal|spinal arachnoiditis NCIT:C50749|SCTID:426055002|UMLS:C1710146|Orphanet:137817|OMIM:182950|MESH:C531624 owl:Class MONDO:0015304 biolink:NamedThing arachnoiditis Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. tmpte7i6ely_mondo_relaxed.owl adhesive arachnoiditis|chronic arachnoiditis|inflammation of arachnoid mater|arachnoid mater inflammation GARD:0005839|UMLS:C0003708|ICD10:G03|MedDRA:10003074|SCTID:13980006|ICD10:G03.9|UMLS:C0270617|MESH:D001100|DOID:12156|NCIT:C37913|Orphanet:137817|OMIM:182950 owl:Class MONDO:0011999 biolink:NamedThing otosclerosis 3 tmpte7i6ely_mondo_relaxed.owl OTSC3|otosclerosis 3 UMLS:C1842353|MESH:C564268|OMIM:608244 owl:Class MONDO:0005349 biolink:NamedThing otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. tmpte7i6ely_mondo_relaxed.owl otosclerosis (disease)|otosclerosis otosclerosis (disease) UMLS:C0029899|HP:0000362|OMIM:608244|MESH:D010040|OMIM:611572|OMIM:615589|DOID:12185|OMIM:608484|ICD10:H80.8|ICD9:387.9|OMIM:612096|Orphanet:2794|OMIM:605727|ICD10:H80.80|ICD9:387|SCTID:11543004|OMIM:611571|OMIMPS:166800|OMIM:166800|EFO:0004213|ICD9:387.8 owl:Class MONDO:0007469 biolink:NamedThing double nail for fifth toe tmpte7i6ely_mondo_relaxed.owl fifth toe, double nails|double nail for fifth toe|Double nails on the fifth toe GARD:0009672|MESH:C565090|OMIM:126500 https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe owl:Class MONDO:0044989 biolink:NamedThing foot disorder A disease or disorder that involves the pes. tmpte7i6ely_mondo_relaxed.owl disease or disorder of pes|pes disease|disorder of foot|foot disease|pes disease or disorder|disease of pes|disorder of pes MESH:D005534|UMLS:C0016510|SCTID:118932009 owl:Class UBERON:0004665 biolink:NamedThing muscular coat of seminal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006660 biolink:NamedThing muscular coat tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017196 biolink:NamedThing osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali Sabrinathan Nair syndrome|Al Gazali-Nair syndrome Orphanet:2773|SCTID:722110003|UMLS:CN202641|GARD:0000587|MESH:C535617|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome owl:Class MONDO:0043878 biolink:NamedThing hereditary optic atrophy A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. tmpte7i6ely_mondo_relaxed.owl Atrophies, hereditary optic|atrophy, hereditary optic|hereditary optic atrophy|hereditary optic Atrophies|optic atrophy, hereditary OMIM:311050|OMIM:610708|OMIMPS:165500|NCIT:C34864|OMIM:605293|MESH:D015418|OMIM:165300|OMIM:165500|SCTID:26360005|OMIM:258500|UMLS:C0029125 owl:Class HGNC:20373 biolink:NamedThing SPG21 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009662 biolink:NamedThing mucopolysaccharidosis type 7 Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis, mps-VII|mucopolysaccharidosis, type VII|MPS VII - Sly syndrome|mucopolysaccharidosis, type 7|Gus deficiency|mucopolysaccharidosis type 7|MPSVII|Sly disease|MPS 7|MPS7|mucopolysaccharidosis VII|gusb deficiency|MPS VII - mucopolysaccharidosis VII|Sly syndrome|Gusb deficiency|Beta-glucuronidase deficiency|deficiency of beta-glucuronidase|beta-glucuronidase deficiency|mucopolysaccharidosis type VII|MPS VII ICD10:E76.2|ICD10:E76.29|OMIM:253220|SCTID:43916004|MESH:D016538|Orphanet:584|GARD:0007096|UMLS:C0085132|MedDRA:10056893|NCIT:C84903|DOID:12803 owl:Class MONDO:0005381 biolink:NamedThing bone disorder Diseases of bones. tmpte7i6ely_mondo_relaxed.owl skeletal disease|bone element disease or disorder|bone element disease|rare bone disease related to a common gene or pathway defect|disease of bone element|disease or disorder of bone element|disorder of bone element DOID:0080001|UMLS:C0005940|ICD9:731.8|UMLS:CN204768|MESH:D001847|SCTID:76069003|EFO:0004260|ICD10:M89.9|ICD9:733.99 owl:Class MONDO:0022208 biolink:NamedThing crystal arthropathy tmpte7i6ely_mondo_relaxed.owl Arthritis, Crystalline|Arthropathy, Crystal|Crystal Arthropathies|Crystalline Arthritides|Crystal-induced arthritis AND/OR synovitis|Crystal Arthritis|Arthritides, Crystalline|Arthropathies, Crystal|Arthropathy, Crystalline|Crystal-related arthropathy and periarthropathy|Crystalline Arthritis|Crystal Arthropathy|Crystalline arthritis|Arthropathies, Crystalline|crystal-induced arthritis and/or synovitis|crystal arthropathy|Arthritis, Crystal|crystal-related arthropathy and periarthropathy|Crystal arthropathy|Crystalline Arthropathies|Crystalline Arthropathy|Arthritides, Crystal|crystalline arthritis|Crystal Arthritides ICD9:712|SCTID:18834007|ICD9:712.98|ICD9:712.88|MEDGEN:508879|UMLS:C0152087|ICD9:712.90|ICD9:712.80|GARD:0012802 owl:Class MONDO:0006816 biolink:NamedThing arthropathy Any disorder of the joints. tmpte7i6ely_mondo_relaxed.owl ankylosis of joint of hand|disease of skeletal joint|Joint disorder|ankylosis of joint of forearm|ankylosis of joint of ankle and/or foot|ankylosis of multiple joints|arthrosis|Joint ankylosis of the upper arm|Joint ankylosis of the ankle and/or foot|ankylosis of joint of shoulder region|infectious arthropathy|Joint ankylosis of the hand|disorder, Joint|ankylosis of hand joint|Joint ankylosis of the ankle and foot|disorder of joint|disorder of skeletal joint|Joint ankylosis of the forearm|ankylosis of joint of pelvic region and thigh|Joint ankylosis of the lower leg|ankylosis of joint of multiple sites|joint disease|arthropathy|skeletal joint disease or disorder|ankylosis of joint of upper arm|disease or disorder of skeletal joint|ankylosis of joint of lower leg|ankylosis of ankle and foot joint|ankylosis of forearm joint|Joint ankylosis of the shoulder region|Joint ankylosis of the pelvic region and thigh|ankylosis of upper arm joint|ankylosis of lower leg joint|joint disorder|skeletal joint disease ICD10:M25.9|MESH:D007592|ICD9:716.88|ICD9:719.80|ICD9:719.98|ICD10:M00-M02|ICD9:716.90|DOID:381|ICD10:M15.M19|ICD9:719.90|ICD10:M19.90|ICD10:M12.9|MedDRA:10003285|ICD9:719.89|ICD9:711|NCIT:C35760|SCTID:396275006|ICD9:719.88|ICD9:716.80|ICD9:716.98|EFO:1000999|UMLS:C0022408|SCTID:399269003|ICD9:719.9|ICD9:716.9 owl:Class MONDO:0030998 biolink:NamedThing hearing loss, autosomal dominant 80 tmpte7i6ely_mondo_relaxed.owl DFNA80|deafness, autosomal dominant 80 OMIM:619274 owl:Class MONDO:0008600 biolink:NamedThing trigger thumb A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). tmpte7i6ely_mondo_relaxed.owl trigger thumb|bilateral trigger thumb (type)|congenital trigger thumb (type)|recurrent trigger thumb (type) GARD:0008484|MESH:D052582|OMIM:190410|UMLS:C0158328|SCTID:42786005 https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb owl:Class UBERON:0007750 biolink:NamedThing metatarsophalangeal joint of pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000982 biolink:NamedThing skeletal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014529 biolink:NamedThing cerebellar-facial-dental syndrome tmpte7i6ely_mondo_relaxed.owl CFDS|CEREBELLOFACIODENTAL syndrome|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome ICD10:Q87.0|Orphanet:444072|UMLS:CN221667|UMLS:C4015495|EFO:0009030|OMIM:616202 owl:Class MONDO:0016102 biolink:NamedThing subacute inflammatory demyelinating polyneuropathy A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). tmpte7i6ely_mondo_relaxed.owl subacute inflammatory demyelinating polyradiculoneuropathy|SIDP Orphanet:206594|UMLS:C0456517|SCTID:277189006|ICD10:G61.8 owl:Class MONDO:0003334 biolink:NamedThing demyelinating polyneuropathy Polyneuropathy that is characterized by demyelination of axons. tmpte7i6ely_mondo_relaxed.owl peripheral demyelinating neuropathy ICD9:356.9|DOID:5214|UMLS:C0270922|NCIT:C27062|SCTID:23414001 owl:Class MONDO:0002459 biolink:NamedThing type IV hypersensitivity disease A disease that has its basis in the disruption of type IV hypersensitivity. tmpte7i6ely_mondo_relaxed.owl immunoproliferative disease|disorder of type IV hypersensitivity|DTH|hypersensitivity reaction type IV disease|type IV hypersensitivity|delayed-type hypersensitivity|delayed hypersensitivity reaction|type IV hypersensitivity reaction|type 4 hypersensitivity reaction|delayed-type hypersensitivity response UMLS:C0020522|ICD10:C88.9|DOID:2916|NCIT:C3115 We make this equivalent with the UMLS concept for the reaction owl:Class MONDO:0013802 biolink:NamedThing infantile cerebellar-retinal degeneration Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. tmpte7i6ely_mondo_relaxed.owl infantile cerebellar retinal degeneration|ICRD|infantile cerebellar-retinal degeneration OMIM:614559|DOID:0050883|ICD10:E88.8|Orphanet:313850|GARD:0013264|UMLS:C3281192 https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration owl:Class NCBITaxon:38323 biolink:NamedThing Bartonella henselae tmpte7i6ely_mondo_relaxed.owl Rochalimaea henselae GC_ID:11|PMID:8240958|PMID:1371515 NCBITaxon:806 ncbi_taxonomy owl:Class NCBITaxon:773 biolink:NamedThing Bartonella tmpte7i6ely_mondo_relaxed.owl Grahmia|Rochalimaea|Rocha-Limae|Grahamella|"Bartonia" Strong et al. 1913 PMID:8863415|PMID:12508871|PMID:11837299|PMID:7857789|GC_ID:11|PMID:8240958|PMID:10425758 NCBITaxon:802 ncbi_taxonomy owl:Class MONDO:0011022 biolink:NamedThing Potocki-Shaffer syndrome Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). tmpte7i6ely_mondo_relaxed.owl chromosome 11P11.2 deletion syndrome|Defect11 syndrome|proximal 11p deletion syndrome|deletion of chromosome 11p11.2|Potocki-Shaffer syndrome|proximal 11P deletion syndrome|11p11.2 deletion|PSS SCTID:702346005|ICD10:Q93.5|GARD:0009762|MESH:C538356|OMIM:601224|DOID:0111687|UMLS:C1832588|NCIT:C75456|ICD9:758.39|Orphanet:52022 owl:Class MONDO:0005193 biolink:NamedThing prostate intraepithelial neoplasia A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade. tmpte7i6ely_mondo_relaxed.owl pin|prostate intraepithelial neoplasia (pin)|prostatic intraepithelial neoplasia|prostate intraepithelial neopl.|pin - prostatic intraepithelial neoplasia EFO:0002621|MP:0009219|MESH:D019048|UMLS:C0282612|NCIT:C4064|SCTID:254901000 owl:Class MONDO:0024474 biolink:NamedThing intraepithelial neoplasia A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia). tmpte7i6ely_mondo_relaxed.owl intraepithelial neoplasia|epithelial dysplasia|intraepithelial neoplasm NCIT:C8366 owl:Class MONDO:0043579 biolink:NamedThing enteritis Inflammation of the small intestine. tmpte7i6ely_mondo_relaxed.owl inflammation of small intestine|Enteritides|enteritis of small intestine|enteritis|enteritis, inflammatory disorder of small intestine|small intestine inflammation MESH:D004751|SCTID:64613007|NCIT:C26765|UMLS:C0014335 owl:Class MONDO:0002269 biolink:NamedThing gastroenteritis An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. tmpte7i6ely_mondo_relaxed.owl cholera morbus|intestine inflammation|inflammation of intestine|infectious colitis, enteritis and gastroenteritis ICD9:558.9|UMLS:C0017160|SCTID:25374005|MESH:D005759|NCIT:C34632|DOID:2326|EFO:1001463|ICD10:K52.9 owl:Class UBERON:0004135 biolink:NamedThing distal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007685 biolink:NamedThing region of nephron tubule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900249 biolink:NamedThing positive regulation of cytoplasmic translational elongation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. tmpte7i6ely_mondo_relaxed.owl activation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|up regulation of cytoplasmic translational elongation|upregulation of cytoplasmic translational elongation owl:Class GO:1900247 biolink:NamedThing regulation of cytoplasmic translational elongation Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411017 biolink:NamedThing oil-producing plant tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411013 biolink:NamedThing plant used for producing extract or concentrate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009661 biolink:NamedThing mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. tmpte7i6ely_mondo_relaxed.owl Maroteaux-Lamy disease|Maroteaux - Lamy syndrome|MPS VI|ARSB deficiency|N-acetylgalactosamine-4-sulfatase deficiency|MPSVI|MPS 6|Mucopoly-saccharidosis type VI|mucopolysaccharidosis VI|MPS VI - Maroteaux-Lamy syndrome|mucopolysaccharidosis type VI|Arsb deficiency|N-acetylgalactosamine 4-sulfatase deficiency|Maroteaux-Lamy syndrome|arylsulfatase B deficiency|deficiency of N-acetylgalactosamine-4-sulfatase|Maroteaux Lamy syndrome|MPS6|ASB deficiency UMLS:C0026709|DOID:12800|ICD10:E76.2|SCTID:69463008|Orphanet:583|MESH:D009087|GARD:0007095|NCIT:C61264|OMIM:253200|MedDRA:10056892 owl:Class MONDO:0019249 biolink:NamedThing mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis|MPS|mucopolysaccharidoses ICD9:277.5|OMIMPS:607014|MESH:D009083|GARD:0007065|DOID:12798|ICD10:E76.0|OMIM:252700|Orphanet:79213|ICD10:E76.1|ICD10:E76.3|NCIT:C61259|UMLS:C0026703|MedDRA:10028093|ICD10:E76.2|SCTID:11380006 https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis owl:Class MONDO:0019245 biolink:NamedThing lysosomal lipid storage disorder An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. tmpte7i6ely_mondo_relaxed.owl lipoidosis|lipidoses|inborn error of lipid storage|lipoid storage disorder|lipoid storage diseas|lipoid storage disease|rare inborn error of lipid storage|lipoidoses|lipidosis|inborn lipid storage disorder|lipid storage disease ICD9:272.8|ICD10:E75.6|SCTID:10741005|UMLS:CN205834|Orphanet:79204|MESH:D008064|DOID:9455|ICD9:272.7|ICD10:E75.5 owl:Class MONDO:0002561 biolink:NamedThing lysosomal storage disease A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. tmpte7i6ely_mondo_relaxed.owl lysosome disease|phospholipidosis|lysosomal storage metabolism disorder|disorder of lysosomal enzyme|lysosomal disorder|lysosomal disease|lysosomal storage disorder|disorder of lysosomal enzymes|inborn lysosomal enzyme disorder|lysosome disorder SCTID:23585005|MESH:D016464|NCIT:C61250|UMLS:CN205533|DOID:3211|Orphanet:68366|UMLS:C0085078 owl:Class MONDO:0013562 biolink:NamedThing aspergillosis, susceptibility to tmpte7i6ely_mondo_relaxed.owl susceptibility to aspergillosis|aspergillosis, susceptibility to Orphanet:1163|OMIM:614079 owl:Class MONDO:0020573 biolink:NamedThing inherited disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. tmpte7i6ely_mondo_relaxed.owl susceptibility, genetic|susceptibilities, genetic|hereditary disease susceptibility|genetic predisposition|predisposition, genetic|genetic predispositions|predispositions, genetic|hereditary predisposition to disease|genetic susceptibilities|genetic susceptibility MESH:D020022 cjm 2017-09-30T12:01:25Z owl:Class NCBITaxon:68459 biolink:NamedThing Giardiinae tmpte7i6ely_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class NCBITaxon:5739 biolink:NamedThing Hexamitidae tmpte7i6ely_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class UBERON:0000011 biolink:NamedThing parasympathetic nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010314 biolink:NamedThing structure with developmental contribution from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005306 biolink:NamedThing ankylosing spondylitis An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. tmpte7i6ely_mondo_relaxed.owl ankylosing spondylarthritis|Bekhterev's disease|Marie-Strumpell disease|Bekhterev syndrome MESH:D013167|NCIT:C84564|Orphanet:825|DOID:7147|ICD9:720.0|SCTID:9631008|EFO:0003898|ICD10:M45 owl:Class MONDO:0003937 biolink:NamedThing spondylitis The inflammation of a vertebra. tmpte7i6ely_mondo_relaxed.owl inflammation of vertebra|vertebra inflammation ICD9:720.89|ICD9:720.8|MESH:D013166|NCIT:C116779|DOID:6590|ICD10:M46|SCTID:84172003 owl:Class MONDO:0018273 biolink:NamedThing XYLT1-CDG tmpte7i6ely_mondo_relaxed.owl XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation UMLS:CN204859|Orphanet:370930|ICD10:E77.8 owl:Class MONDO:0030374 biolink:NamedThing WHIM syndrome 2 tmpte7i6ely_mondo_relaxed.owl WHIMS2 OMIM:619407 owl:Class MONDO:0023880 biolink:NamedThing WHIM syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:193670 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008274 biolink:NamedThing polyostotic fibrous dysplasia Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. tmpte7i6ely_mondo_relaxed.owl fibrous dysplasia of bone|polyostotic fibrous dysplasia of bone NCIT:C34610|ICD9:756.54|SCTID:36517007|MESH:D005359|MedDRA:10036120|Orphanet:93276|ICD10:Q78.1 owl:Class MONDO:0000845 biolink:NamedThing fibrous dysplasia A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. tmpte7i6ely_mondo_relaxed.owl fibrous dysplasia of bone SCTID:10623005|MedDRA:10016664|NCIT:C34609|SCTID:254145001|ICD9:733.29|DOID:0080031|GARD:0006444|ICD10:Q78.1|MESH:D005357|Orphanet:249 owl:Class MONDO:0010595 biolink:NamedThing Sertoli cell-only syndrome Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children. tmpte7i6ely_mondo_relaxed.owl Sertoli cell-only syndrome|Del Castillo syndrome|Germinal cell aplasia|DEL CASTILLO syndrome OMIM:400042|EFO:1001422|DOID:0050457|SCTID:73465006|MESH:D054331|GARD:0008406|ICD9:752.89 Editor note: consider moving OMIMPS from azoospermia to here https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome owl:Class MONDO:0004983 biolink:NamedThing azoospermia Complete absence of spermatozoa in the semen. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure OMIM:606766|OMIM:615081|NCIT:C80076|UMLS:C0004509|OMIM:102530|OMIMPS:258150|ICD10:N46.0|DOID:14227|OMIM:415000|OMIM:612997|OMIM:614822|OMIM:243060|OMIM:615841|OMIM:309120|SCTID:425558002|MESH:D053713|OMIM:613958|ICD9:606.0|EFO:0000279|OMIM:258150|OMIM:270960|OMIM:613957|OMIM:615413|ICD10:N46.01|OMIM:615842|OMIM:108420 owl:Class MONDO:0000701 biolink:NamedThing ischemic colitis Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature. tmpte7i6ely_mondo_relaxed.owl colonic ischemia DOID:0060181|MESH:D017091|UMLS:C0162529|ICD10:K55.9|SCTID:30588004 owl:Class MONDO:0025377 biolink:NamedThing African swine fever A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). tmpte7i6ely_mondo_relaxed.owl wart-Hog disease|swine fever, African|wart-Hog diseases|wart Hog disease UMLS:C0001752|MESH:D000357 owl:Class MONDO:0025294 biolink:NamedThing tick-borne infectious disease Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. tmpte7i6ely_mondo_relaxed.owl Tick-borne infection|infection, Tick-borne|Tick-borne infections|infections, Tick borne|infections, Tick-borne|diseases, Tick-borne|Tick borne diseases|Tick borne infections|Tick-borne disease|disease, Tick-borne MESH:D017282 owl:Class CHEBI:25442 biolink:NamedThing mycotoxin Poisonous substance produced by fungi. tmpte7i6ely_mondo_relaxed.owl fungal toxins|mycotoxins owl:Class CHEBI:27026 biolink:NamedThing toxin Poisonous substance produced by a biological organism such as a microbe, animal or plant. tmpte7i6ely_mondo_relaxed.owl toxins|toxin owl:Class MONDO:0004935 biolink:NamedThing acquired carotenemia tmpte7i6ely_mondo_relaxed.owl carotenemia|hypercarotinemia SCTID:35487009|ICD9:278.3|DOID:9969 Editor note: consider merging into parent. An explicit acquired subclass was created for consistency with DO owl:Class MONDO:0021162 biolink:NamedThing carotenemia tmpte7i6ely_mondo_relaxed.owl ICD9:278.3|NCIT:C26963|DOID:9969|ICD10:E67.1|UMLS:C0154271 owl:Class MONDO:0004723 biolink:NamedThing liver leiomyoma A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl liver leiomyoma|leiomyoma of liver|leiomyoma of the liver|hepatic leiomyoma DOID:917|UMLS:C1333968|NCIT:C5753 owl:Class MONDO:0000627 biolink:NamedThing benign endocrine neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. tmpte7i6ely_mondo_relaxed.owl endocrine gland benign neoplasm|benign neoplasm of the endocrine gland|benign tumor of the endocrine gland|benign endocrine neoplasm|benign neoplasm of endocrine gland|benign endocrine tumor|endocrine organ benign neoplasm|benign endocrine gland tumor|benign tumor of endocrine gland|benign endocrine gland neoplasm SCTID:92085000|ICD9:227.9|DOID:0060089|ICD9:227.8|NCIT:C4621|UMLS:C0347524 owl:Class GO:0070459 biolink:NamedThing prolactin secretion The regulated release of prolactin, a peptide hormone that stimulates lactation, from secretory granules in the anterior pituitary. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009306 biolink:NamedThing protein secretion The controlled release of proteins from a cell. tmpte7i6ely_mondo_relaxed.owl protein secretion during cell fate commitment|protein secretion resulting in cell fate commitment|glycoprotein secretion owl:Class UBERON:0004151 biolink:NamedThing cardiac chamber tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005222 biolink:NamedThing liver left lobe parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001280 biolink:NamedThing liver parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007875 biolink:NamedThing Larsen syndrome Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Larsen syndrome|dominant Larsen syndrome|Larsen syndrome|LRS SCTID:63387002|OMIM:150250|ICD10:Q74.8|MESH:C580241|DOID:14764|GARD:0006860|UMLS:C0175778|Orphanet:503|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome owl:Class MONDO:0019690 biolink:NamedThing filamin-related bone disorder tmpte7i6ely_mondo_relaxed.owl bone filaminopathy Orphanet:93425|UMLS:CN227676 owl:Class GO:0005496 biolink:NamedThing steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097159 biolink:NamedThing organic cyclic compound binding Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019293 biolink:NamedThing skin vascular disease A disease that involves the superficial vasculature. tmpte7i6ely_mondo_relaxed.owl disorder of blood vessels affecting skin|vascular disorder of skin|vascular disease of the skin|vascular skin disease|vasculature skin disease|vascular disorders of skin|skin vascular disorder|superficial vasculature disease MedDRA:10062171|ICD9:709.1|SCTID:11263005|UMLS:C0162819|MESH:D017445|DOID:9540|Orphanet:79379|NCIT:C35254 owl:Class GO:0097014 biolink:NamedThing ciliary plasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. tmpte7i6ely_mondo_relaxed.owl microtubule-based flagellar matrix|cilium cytoplasm|microtubule-based flagellum cytoplasm|cilial cytoplasm|cilium plasm|microtubule-based flagellum matrix|microtubule-based flagellar cytoplasm|ciliary cytoplasm owl:Class GO:0005737 biolink:NamedThing cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:877 biolink:NamedThing ALDH7A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100425 biolink:NamedThing acute myeloid leukemia, KRAS gene mutation Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.) tmpte7i6ely_mondo_relaxed.owl AML, c-K-ras Gene Mutation|AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KRAS gene mutation|AML, KRAS2 Gene Mutation|AML, KRAS-2 Gene Mutation|AML, KRAS Gene Mutation NCIT:C41361 owl:Class MONDO:0018874 biolink:NamedThing acute myeloid leukemia Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. tmpte7i6ely_mondo_relaxed.owl acute non lymphoblastic leukemia|acute myeloid leukemia (AML)|acute myelogenous leukemias|acute granulocytic leukemia|leukemia, acute myeloid|myeloid leukemia, acute|leukemia, acute myeloid, susceptibility to|AML - acute myeloid leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|acute myeloblastic leukemia|acute myelogenous leukemia|acute myelocytic leukemia|acute nonlymphocytic leukemia|acute myeloid leukemia|leukemia, myelocytic, acute|AML|ANLL|leukemia, acute myelogenous|acute Nonlymphocytic leukemia NCIT:C3171|OMIM:601626|MedDRA:10000880|EFO:0000222|GARD:0000537|ONCOTREE:AML|ICD9:205.0|GARD:0012757|KEGG:05221|UMLS:C0023467|ICD10:C92.0|ICD10:C92.00|DOID:9119|Orphanet:519|MESH:D015470|ICD9:205.00|SCTID:91861009|ICDO:9861/3 https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia|https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia owl:Class MONDO:0009018 biolink:NamedThing central cloudy dystrophy of François Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. tmpte7i6ely_mondo_relaxed.owl central cloudy dystrophy of Francois|central cloudy dystrophy of François|corneal dystrophy, central type|CCDF|central cloudy corneal dystrophy of François SCTID:419074008|Orphanet:98972|ICD10:H18.5|UMLS:C1622427|MESH:C563262|OMIM:217600 owl:Class MONDO:0020214 biolink:NamedThing posterior corneal dystrophy Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy. tmpte7i6ely_mondo_relaxed.owl Orphanet:98627|SCTID:35091000119101|ICD9:371.58|UMLS:C2063478|ICD10:H18.5|UMLS:CN227822 owl:Class UBERON:0004912 biolink:NamedThing biliary bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009854 biolink:NamedThing digestive tract diverticulum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100192 biolink:NamedThing liver failure A liver disease characterized by the liver losing or has lost all of its function. tmpte7i6ely_mondo_relaxed.owl hepatic failure NCIT:C26922 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005154 biolink:NamedThing liver disorder A disease involving the liver. tmpte7i6ely_mondo_relaxed.owl liver disorder|liver and intrahepatic bile duct disorder|hepatic disorder|liver disease|hepatic disease|disease of liver|disease or disorder of liver|disorder of liver|liver disease or disorder NCIT:C50634|DOID:409|ICD10:K70-K77|SCTID:235856003|ICD9:573.9|UMLS:C0023895|ICD10:K76.9|EFO:0001421|NCIT:C3196|ICD9:573.8|MESH:D008107 owl:Class UBERON:0000999 biolink:NamedThing ejaculatory duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000025 biolink:NamedThing tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013512 biolink:NamedThing hemoglobin H disease Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl alpha thalassemia, hemoglobin H type|alpha-thalassemia intermedia|hemoglobin H disease|Hemoglobin H disease, Deletional|hemoglobin H disease, deletional|Alpha-thalassemia, Hemoglobin H type|Hemoglobin H disease, Nondeletional|HbH disease|HbH|Alpha-thalassemia intermedia|HEMOGLOBIN H disease MedDRA:10063435|OMIM:613978|DOID:0110031|UMLS:C3161174|ICD9:282.49|SCTID:48553001|ICD10:D56.0|Orphanet:93616|UMLS:C0002312|NCIT:C95504 owl:Class MONDO:0011399 biolink:NamedThing alpha thalassemia Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. tmpte7i6ely_mondo_relaxed.owl A-thalassemia|Alpha thalassaemia|alpha thalassemia|alpha-thalassemia MESH:D017085|ICD10:D56.0|ICD9:282.43|UMLS:C0002312|Orphanet:846|NCIT:C34368|OMIM:604131|ICD9:282.49|DOID:1099|GARD:0000621|MedDRA:10043390|SCTID:68913001 owl:Class HP:0010950 biolink:NamedThing Abnormal fourth ventricle morphology An abnormality of the fourth ventricle. tmpte7i6ely_mondo_relaxed.owl Abnormality of the fourth ventricle UMLS:C4023630 The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. peter 2011-01-17T12:58:00Z human_phenotype owl:Class HP:0002118 biolink:NamedThing Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebral ventricles UMLS:C4025724 human_phenotype owl:Class UBERON:0004219 biolink:NamedThing urethra smooth muscle layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001135 biolink:NamedThing smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:176841 biolink:NamedThing vitamin B7 Any member of a group of vitamers that belong to the chemical structural class called biotins that exhibit biological activity against vitamin B7 deficiency. Vitamin B7 deficiency is very rare in individuals who take a normal balanced diet. Foods rich in biotin are egg yolk, liver, cereals, vegetables (spinach, mushrooms) and rice. Symptoms associated with vitamin B7 deficiency include thinning hair, scaly skin rashes around eyes, nose and mouth, and brittle nails. The vitamers include biotin and its ionized and salt forms. tmpte7i6ely_mondo_relaxed.owl vitamins B7|vitamin B7|vitamin B-7|vitamin B7 vitamers|vitamin B7 vitamer owl:Class CHEBI:75769 biolink:NamedThing B vitamin Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). tmpte7i6ely_mondo_relaxed.owl B-group vitamin|B-group vitamins|B vitamins|vitamin B owl:Class MONDO:0041259 biolink:NamedThing diphtheritic myocarditis An myocarditis caused by infection with Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl Corynebacterium diphtheriae caused myocarditis|diphtheritic myocarditis|Corynebacterium diphtheriae myocarditis UMLS:C0152952|SCTID:26117009 owl:Class MONDO:0001114 biolink:NamedThing bacterial myocarditis Myocarditis that is caused by an infection with a bacterial agent. tmpte7i6ely_mondo_relaxed.owl septic myocarditis UMLS:C0155690|SCTID:64043005|UMLS:C1384588|NCIT:C128380|DOID:10779|ICD10:I40.0|ICD9:422.92 owl:Class UBERON:0005409 biolink:NamedThing alimentary part of gastrointestinal system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000467 biolink:NamedThing anatomical system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017936 biolink:NamedThing benign Samaritan congenital myopathy Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. tmpte7i6ely_mondo_relaxed.owl Orphanet:324581|ICD10:G71.2 owl:Class MONDO:0019952 biolink:NamedThing congenital myopathy tmpte7i6ely_mondo_relaxed.owl congenital myopathy|myopathy congenital|batten Turner congenital myopathy DOID:0080100|OMIM:255300|MedDRA:10062547|UMLS:C0027127|GARD:0005898|Orphanet:97245|ICD10:G71.2 owl:Class MONDO:0009706 biolink:NamedThing hereditary myopathy with lactic acidosis due to ISCU deficiency Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. tmpte7i6ely_mondo_relaxed.owl myopathy with exercise intolerance, Swedish type|myopathy with deficiency of succinate dehydrogenase and aconitase|ISCU myopathy|HML|myopathy with lactic acidosis, hereditary|myoglobinuria due to abnormal glycolysis|iron-sulfur cluster deficiency myopathy|aconitase deficiency SCTID:699268002|OMIM:255125|MESH:C564972|ICD9:259.8|UMLS:C1850718|ICD10:G71.3|Orphanet:43115 owl:Class MONDO:0020123 biolink:NamedThing metabolic myopathy A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. tmpte7i6ely_mondo_relaxed.owl Orphanet:98486|ICD9:359.89|SCTID:26111005|UMLS:C0270984|MedDRA:10068836|NCIT:C98985 owl:Class UBERON:0001422 biolink:NamedThing facial lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001473 biolink:NamedThing lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008348 biolink:NamedThing negative regulation of antimicrobial humoral response Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response. tmpte7i6ely_mondo_relaxed.owl down-regulation of antimicrobial humoral response|downregulation of antimicrobial humoral response|inhibition of antimicrobial humoral response|down regulation of antimicrobial humoral response|attenuation of antimicrobial humoral response owl:Class GO:0002832 biolink:NamedThing negative regulation of response to biotic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. tmpte7i6ely_mondo_relaxed.owl down regulation of response to biotic stimulus|down-regulation of response to biotic stimulus|downregulation of response to biotic stimulus|inhibition of response to biotic stimulus owl:Class MONDO:0013014 biolink:NamedThing spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. tmpte7i6ely_mondo_relaxed.owl SEMD, aggrecan type|SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type SCTID:719165004|Orphanet:171866|UMLS:C2748544|MESH:C567558|OMIM:612813|ICD10:Q77.7|GARD:0010513 https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type owl:Class MONDO:0016761 biolink:NamedThing spondyloepiphyseal dysplasia An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. tmpte7i6ely_mondo_relaxed.owl spondylo-epi-(meta)-physeal dysplasia|SED and SEMD|spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia|spondyloepiphyseal dysplasia ICD9:756.9|MedDRA:10062920|GARD:0007687|SCTID:254062008|Orphanet:253|ICD10:Q77.7|DOID:0080027|Orphanet:252 owl:Class MONDO:0001697 biolink:NamedThing reading disorder A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process. tmpte7i6ely_mondo_relaxed.owl SCTID:52824009|ICD9:315.00|DOID:13365|ICD9:315.09 owl:Class MONDO:0004681 biolink:NamedThing learning disability A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. tmpte7i6ely_mondo_relaxed.owl learning disorder|Academic skill disorder ICD9:315.2|NCIT:C89334|ICD10:F81.9|DOID:8927|MESH:D007859|UMLS:CN229495|SCTID:1855002 owl:Class GO:0030730 biolink:NamedThing sequestering of triglyceride The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpte7i6ely_mondo_relaxed.owl retention of triglyceride|triacylglycerol sequestration|triacylglycerol sequestering|sequestering of triacylglycerol|triacylglycerol retention|triglyceride storage|triglyceride sequestering|sequestration of triglyceride|triglyceride retention|retention of triacylglycerol|triglyceride sequestration|triacylglycerol storage|storage of triacylglycerol|storage of triglyceride|sequestration of triacylglycerol owl:Class GO:0019915 biolink:NamedThing lipid storage The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpte7i6ely_mondo_relaxed.owl retention of lipids|sequestration of lipid|storage of lipids|sequestering of lipids|lipid sequestration|lipid retention|sequestration of lipids|lipid sequestering owl:Class GO:0051886 biolink:NamedThing negative regulation of timing of anagen Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpte7i6ely_mondo_relaxed.owl down-regulation of anagen|inhibition of anagen|negative regulation of anagen|downregulation of anagen|down regulation of anagen owl:Class GO:0051884 biolink:NamedThing regulation of timing of anagen Any process that modulates the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpte7i6ely_mondo_relaxed.owl regulation of anagen owl:Class MONDO:0011342 biolink:NamedThing SLC35A1-CDG SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. tmpte7i6ely_mondo_relaxed.owl CMP-sialic acid transporter deficiency|carbohydrate deficient glycoprotein syndrome type IIf|congenital disorder of glycosylation type 2f|SLC35A1-CDG (CDG-IIf)|CDG-IIf|CDG2F|CDG syndrome type IIf|congenital disorder of glycosylation type IIf|congenital disorder of glycosylation, type IIf|CDG IIf GARD:0012409|DOID:0070258|UMLS:C1970344|OMIM:603585|MESH:C567040|Orphanet:238459|SCTID:723624008|ICD10:E77.8 owl:Class MONDO:0019058 biolink:NamedThing neurometabolic disease tmpte7i6ely_mondo_relaxed.owl Orphanet:68385|UMLS:CN205539 owl:Class MONDO:0018816 biolink:NamedThing isolated neonatal sclerosing cholangitis Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. tmpte7i6ely_mondo_relaxed.owl sclerosing cholangitis, neonatal|NSC OMIM:617394|Orphanet:480556|UMLS:C4479344 owl:Class MONDO:0015509 biolink:NamedThing genetic biliary tract disease Genetic biliary tract disease. tmpte7i6ely_mondo_relaxed.owl genetic biliary tract disease UMLS:CN199642|Orphanet:156607 owl:Class HGNC:10938 biolink:NamedThing SLC19A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015766 biolink:NamedThing cholera Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. tmpte7i6ely_mondo_relaxed.owl Vibrio cholerae|Vibrio cholerae disease or disorder|Vibrio cholerae infection|Vibrio cholerae infectious disease|Vibrio cholerae caused disease or disorder|cholera due to Vibrio cholerae|cholera - Vibrio cholerae ICD10:A00.0|GARD:0006043|ICD9:001.9|DOID:1498|ICD10:A00.1|Orphanet:173|ICD10:A00|UMLS:C0008354|SCTID:63650001|ICD9:001|ICD10:A00.9|MESH:D002771|MedDRA:10008631|ICD9:001.0 https://rarediseases.info.nih.gov/diseases/6043/cholera owl:Class MONDO:0005371 biolink:NamedThing mood disorder A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. tmpte7i6ely_mondo_relaxed.owl episodic mood disorder DOID:3324|ICD10:F30-F39|ICD10:F39|EFO:0004247|SCTID:46206005|MESH:D019964|ICD9:296.99|NCIT:C92200|UMLS:CN236678|ICD10:F30.F39 owl:Class MONDO:0005084 biolink:NamedThing mental disorder A disease that has its basis in the disruption of mental process. tmpte7i6ely_mondo_relaxed.owl mental process disease|disorder of mental process|mental or behavioural disorder ICD10:F00.F99|EFO:0000677|DOID:150|ICD9:298.8|SCTID:69322001|SCTID:74732009|ICD9:V11.9|ICD9:290-299.99|NIFSTD:birnlex_12669|UMLS:CN240636|MESH:D001523 owl:Class GO:2000844 biolink:NamedThing negative regulation of testosterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of testosterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046888 biolink:NamedThing negative regulation of hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell. tmpte7i6ely_mondo_relaxed.owl down-regulation of hormone secretion|inhibition of hormone secretion|down regulation of hormone secretion|downregulation of hormone secretion owl:Class CHEBI:26188 biolink:NamedThing polyketide Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. tmpte7i6ely_mondo_relaxed.owl polyketide|polyketides owl:Class CHEBI:36963 biolink:NamedThing organooxygen compound An organochalcogen compound containing at least one carbon-oxygen bond. tmpte7i6ely_mondo_relaxed.owl organooxygen compounds|organooxygen compound owl:Class MONDO:0060582 biolink:NamedThing auditory neuropathy-optic atrophy syndrome tmpte7i6ely_mondo_relaxed.owl ANOA|auditory neuropathy and optic atrophy Orphanet:542585|OMIM:617717|UMLS:C4521678 owl:Class MONDO:0044970 biolink:NamedThing mitochondrial disease tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008474 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal dominant Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal dominant MESH:C566658|UMLS:C1866717|GARD:0010624|Orphanet:93284|OMIM:184100 https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda owl:Class MONDO:0007273 biolink:NamedThing paragangliomas 4 Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. tmpte7i6ely_mondo_relaxed.owl pheochromocytoma, familial extraadrenal|SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|paraganglioma caused by mutation in SDHB|paraganglioma, familial malignant|pheochromocytoma, extraadrenal and cervical paraganglioma|paragangliomas type 4|paragangliomas, hereditary extraadrenal|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal Pheochromocytomas|PGL4|paragangliomas 4|SDHB paraganglioma GARD:0010546|UMLS:C1861848|OMIM:115310|Orphanet:29072 https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4 owl:Class MONDO:0002817 biolink:NamedThing adrenal gland cancer A malignant neoplasm involving the adrenal gland tmpte7i6ely_mondo_relaxed.owl adrenal gland cancer|malignant adrenal neoplasm|malignant adrenal tumor|malignant neoplasm of the adrenal gland|malignant neoplasm of adrenal gland|malignant tumor of the adrenal gland|malignant adrenal gland tumor|adrenal neoplasm|tumor of the adrenal gland|malignant adrenal gland neoplasm|adrenal cancer|cancer of adrenal gland|malignant tumor of adrenal gland SCTID:127021009|ICD9:194.0|DOID:3953|NCIT:C9338|ICD10:C74.9|GARD:0005751|MESH:D000310|NCIT:C2859|ICD10:C74|ICD9:239.7 owl:Class MONDO:0004401 biolink:NamedThing testis refractory cancer Malignant testicular germ cell tumor that is resistant to treatment. tmpte7i6ely_mondo_relaxed.owl refractory cancer of the testis|refractory testicular cancer|refractory testicular carcinoma|refractory cancer of testis|refractory malignant testicular germ cell tumor NCIT:C9077|UMLS:C1377904|DOID:7928 owl:Class MONDO:0003510 biolink:NamedThing malignant testicular germ cell tumor A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl testicular cancer|testicular malignant germ cell cancer|malignant germ cell neoplasm of testis|malignant germ cell tumor of the testis|testicular cancer (excluding germ cell or trophoblastic cancer)|malignant testicular germ cell neoplasm|testicular germ cell cancer|malignant testicular germ cell tumor|malignant germ cell tumor of testis|testicular ca. (no germ/tropho.)|malignant germ cell neoplasm of the testis DOID:5556|SCTID:713646001|NCIT:C9063|ICD9:186.9|UMLS:C0855197 owl:Class MONDO:0023003 biolink:NamedThing double fingernail of fifth finger tmpte7i6ely_mondo_relaxed.owl GARD:0001906 Editor note: consider making a grouping class with MONDO:0007469 https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger owl:Class MONDO:0007227 biolink:NamedThing Sillence syndrome Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. tmpte7i6ely_mondo_relaxed.owl brachydactyly-distal symphalangism syndrome|brachydactyly-symphalangism syndrome UMLS:C1862092|OMIM:113450|SCTID:732956000|ICD10:Q74.8|MESH:C537338|Orphanet:3168|GARD:0004869 owl:Class MONDO:0016927 biolink:NamedThing partial duplication of chromosome 6 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome type 6|partial trisomy of chromosome 6 SCTID:726345000|Orphanet:262628 owl:Class MONDO:0020052 biolink:NamedThing partial autosomal trisomy/tetrasomy tmpte7i6ely_mondo_relaxed.owl Orphanet:98132 owl:Class NCBITaxon:11623 biolink:NamedThing Lymphocytic choriomeningitis mammarenavirus tmpte7i6ely_mondo_relaxed.owl LCMV|Lymphocytic choriomeningitis virus|lymphocytic choriomeningitis virus LCMV GC_ID:1 NCBITaxon:12748 ncbi_taxonomy owl:Class NCBITaxon:1653394 biolink:NamedThing Mammarenavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014451 biolink:NamedThing tongue taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001727 biolink:NamedThing taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002508 biolink:NamedThing gingivitis A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. tmpte7i6ely_mondo_relaxed.owl inflammation of gingiva|acute gingivitis|gingivitis|gingiva inflammation|chronic gingivitis ICD9:523.1|ICD9:523.0|ICD10:K05.1|ICD10:K05.00|UMLS:C0017574|ICD10:K05.0|DOID:3087|SCTID:66383009|MESH:D005891|ICD9:523.10|ICD10:K05.10|NCIT:C34636 owl:Class MONDO:0004842 biolink:NamedThing stomatitis Inflammation of the oral mucosa due to local or systemic factors. tmpte7i6ely_mondo_relaxed.owl inflammation of mouth mucosa|mouth mucosa inflammation|mucositis oral|oral mucositis ICD10:K12.1|DOID:9637|ICD9:528.00|ICD9:528.0|EFO:1001904|UMLS:C1568868|UMLS:C0038362|MESH:D013280|SCTID:61170000|NCIT:C26887 owl:Class MONDO:0002241 biolink:NamedThing factor XIII deficiency An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII. tmpte7i6ely_mondo_relaxed.owl FXIIID owl:Class MONDO:0002242 biolink:NamedThing coagulation protein disease Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. tmpte7i6ely_mondo_relaxed.owl coagulation factor deficiency|coagulation factor deficiency syndrome MESH:D020147|UMLS:C0600503|NCIT:C27215|SCTID:86075001|DOID:2212 owl:Class MONDO:0004970 biolink:NamedThing adenocarcinoma A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl adenocarcinomas|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma|adenocarcinoma, malignant|ADNOS NCIT:C2852|DOID:299|UMLS:C0001418|EFO:0000228|SCTID:443961001|ONCOTREE:ADNOS|ICDO:8140/3|MESH:D000230|CSP:2000-0386 owl:Class MONDO:0005668 biolink:NamedThing bird fancier's lung Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis. tmpte7i6ely_mondo_relaxed.owl bird fancier lung|poultry worker's lung|bird breeder's lung|bird fancier's lung|pigeon-breeder's lung|bird-fanciers' lung|bird-fancier's lung|Avian hypersensitivity pneumonitis|pigeon breeder's lung|bird-breeder's lung|pigeon-breeder lung disease OMIM:145300|MESH:D001716|DOID:13891|EFO:0007170|SCTID:69339004|ICD10:J67.2|Orphanet:99908|MedDRA:10004941|UMLS:C0005592|NCIT:C34425|ICD9:495.2 owl:Class MONDO:0004553 biolink:NamedThing extrinsic allergic alveolitis An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis. tmpte7i6ely_mondo_relaxed.owl allergic form of pneumonitis|extrinsic allergic alveolitis|allergic pneumonitis|alveolitis|hypersensitivity pneumonitis 2022-05-01 ICD9:495.9|DOID:841|MESH:D000542|ICD10:J67.9|NCIT:C34369|ICD9:495 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class GO:2000859 biolink:NamedThing negative regulation of aldosterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001414 biolink:NamedThing catalytic activity A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001018 biolink:NamedThing physical quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. tmpte7i6ely_mondo_relaxed.owl relational physical quality owl:Class UBERON:0012425 biolink:NamedThing striated border microvillus layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012423 biolink:NamedThing layer of microvilli tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018711 biolink:NamedThing intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:457365|UMLS:CN242088 owl:Class MONDO:0013173 biolink:NamedThing intellectual disability, autosomal recessive 13 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 13|mental retardation, autosomal recessive type 13|TRAPPC9 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 13|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|intellectual disability, autosomal recessive type 13|MRT13 MESH:C567714|UMLS:C2750791|OMIM:613192 owl:Class MONDO:0019502 biolink:NamedThing autosomal recessive non-syndromic intellectual disability Autosomal recessive form of non-syndromic intellectual disability. tmpte7i6ely_mondo_relaxed.owl autosomal recessive non-syndromic mental retardation|autosomal recessive mental retardation|non-syndromic intellectual disability, autosomal recessive|NS-ARID|mental retardation, autosomal recessive|intellectual disability, autosomal recessive|autosomal recessive non-syndromic intellectual disability|AR-NSID|autosomal recessive intellectual disability OMIM:611093|OMIM:614340|OMIM:616459|OMIM:615541|OMIM:614345|OMIM:611097|OMIM:614249|OMIM:611092|OMIM:614333|OMIM:611107|OMIM:615817|OMIM:613192|OMIM:608443|OMIM:614329|OMIM:617125|OMIM:616116|OMIM:614342|OMIM:616193|OMIM:616887|OMIM:614020|OMIM:616739|OMIM:611090|OMIM:615979|OMIM:614344|OMIM:617188|OMIM:611096|OMIM:616460|OMIM:617028|DOID:0060308|OMIM:611091|OMIMPS:249500|OMIM:614202|OMIM:614347|OMIM:615942|UMLS:CN206293|OMIM:615802|OMIM:614341|OMIM:615637|OMIM:615516|OMIM:614346|OMIM:615599|OMIM:615493|OMIM:607417|OMIM:614343|OMIM:614208|Orphanet:88616|OMIM:614499|OMIM:249500|OMIM:611095 Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 owl:Class MONDO:0018029 biolink:NamedThing congenital factor XIII deficiency Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. tmpte7i6ely_mondo_relaxed.owl factor XIII deficiency|fibrin-stabilizing factor deficiency|hereditary factor XIII deficiency disease|fibrin stabilizing factor deficiency|deficiency, Laki-Lorand factor|factor XIII deficiency disease GARD:0010766|OMIM:613235|Orphanet:331|NCIT:C131633|OMIM:613225|ICD9:286.3|SCTID:50189006|ICD10:D68.2|MESH:D005177|DOID:2211 owl:Class MONDO:0002243 biolink:NamedThing hemorrhagic disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). tmpte7i6ely_mondo_relaxed.owl hemorrhagic diathesis|bleeding diathesis|bleeding tendency|hemorrhagic disease|bleeding predisposition|bleeding disorder ICD10:D69.9|ICD9:287.9|MESH:D006474|NCIT:C115221|DOID:2213 owl:Class GO:0031224 biolink:NamedThing intrinsic component of membrane The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to membrane owl:Class GO:0110165 biolink:NamedThing cellular anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000327 biolink:NamedThing Buruli ulcer disease A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. tmpte7i6ely_mondo_relaxed.owl Searle's ulcer|Mossman ulcer|Bairnsdale ulcer|Mycobacterium ulcerans caused disease or disorder|Buruli ulcer|Searl ulcer|Daintree ulcer|Mycobacterium ulcerans infectious disease|Mycobacterium ulcerans disease or disorder NCIT:C84604|ICD10:A31.1|SCTID:15845006|EFO:1001281|DOID:0050456|MESH:D054312|UMLS:C0085568 owl:Class MONDO:0020590 biolink:NamedThing mycobacterial infectious disease Infection due to organisms from the genus Mycobacteria. tmpte7i6ely_mondo_relaxed.owl mycobacterial infection|mycobacteriosis|mycobacterium infection UMLS:C0026918|SCTID:88415009|MESH:D009164|NCIT:C26831 owl:Class MONDO:0007920 biolink:NamedThing lymphatic malformation 5 A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. tmpte7i6ely_mondo_relaxed.owl lymphedema praecox|LMPH2|lymphedema, hereditary, II|late-onset primary lymphedema|hereditary lymphedema type II|Meige lymphedema|lymphedema preacox|late-onset lymphedema|lymphedema, late-onset|lymphedema hereditary type 2|Meige disease SCTID:400040008|Orphanet:90186|GARD:0003324|OMIM:153200|MESH:C562467|GARD:3324|ICD10:Q82.0|MedDRA:10027138|DOID:0070213 owl:Class MONDO:0043218 biolink:NamedThing neurovascular disorder A disorder of the nervous system related to a vascular etiology. tmpte7i6ely_mondo_relaxed.owl vasculature nervous system disorder|nervous system disorder of vasculature|disease of nervous system vasculature|neurovascular disorder NCIT:C117007|UMLS:C3898144 owl:Class MONDO:0013043 biolink:NamedThing atypical hemolytic-uremic syndrome with C3 anomaly tmpte7i6ely_mondo_relaxed.owl atypical HUS with C3 anomaly|susceptibility to atypical hemolytic uremic syndrome 5|AHUS5|D-HUS with C3 anomaly|Ahus, susceptibility to, 5|hemolytic uremic syndrome, atypical, susceptibility to, 5|hemolytic-uremic syndrome without diarrhea with C3 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 5|aHUS with C3 anomaly Orphanet:93575|OMIM:612925|ICD10:D58.8|Orphanet:2134 owl:Class MONDO:0016244 biolink:NamedThing atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. tmpte7i6ely_mondo_relaxed.owl atypical hemolytic uremic syndrome|hemolytic-uremic syndrome without diarrhea|D-minus hemolytic uremic syndrome (D-HUS)|atypical HUS|aHUS|non-diarrhea-associated hemolytic uremic syndrome|HUS, atypical|D-HUS UMLS:C2931788|OMIM:612922|DOID:0080301|OMIM:612923|OMIM:612924|OMIM:612925|MESH:D065766|NCIT:C123223|OMIM:609814|GARD:0008702|ICD10:D58.8|OMIM:615008|OMIM:612926|GARD:0006240|OMIM:235400|Orphanet:2134 owl:Class MONDO:0018570 biolink:NamedThing hypophosphatasia Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). tmpte7i6ely_mondo_relaxed.owl deficiency of alkaline phosphatase|phosphoethanolaminuria|hypophospatasia, childhood|Rathburn disease|deficiency of alkaline phosphatase (disorder) [ambiguous]|HPP|childhood hypophosphatasia|phosphoethanol-aminuria|hypophosphatasia mild OMIM:241510|UMLS:C0020630|OMIM:241500|UMLS:C0220743|ICD10:E83.3|MESH:D007014|DOID:14213|NCIT:C26798|ICD9:277.6|ICD10:E83.39|MESH:C562440|OMIM:146300|Orphanet:436|MedDRA:10049933|SCTID:30174008|GARD:0006734|SCTID:360792001 owl:Class MONDO:0019052 biolink:NamedThing inborn errors of metabolism An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. tmpte7i6ely_mondo_relaxed.owl congenital metabolism disorder|congenital metabolic disorder|inborn error of metabolism|hereditary metabolic disease|inborn metabolic disorder|rare metabolic disease|inborn metabolism disorder|inherited disorders of metabolism|rare inborn errors of metabolism|inborn errors of metabolism|inherited metabolic disorder|inherited disorder of metabolism|rare inherited metabolic disorder|inborn disorders of metabolism|metabolic hereditary disorder Orphanet:68367|MESH:D008659|DOID:655|SCTID:86095007|MedDRA:10062018|UMLS:C0025521|UMLS:C0025517|MedDRA:10058097|NCIT:C34816|MESH:D008661 https://github.com/monarch-initiative/mondo/issues/1483 owl:Class UBERON:0004643 biolink:NamedThing lateral ventricle ependyma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004670 biolink:NamedThing ependyma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035550 biolink:NamedThing superficial vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001638 biolink:NamedThing vein tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33575 biolink:NamedThing carboxylic acid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. tmpte7i6ely_mondo_relaxed.owl acides carboxyliques|acidos carboxilicos|Carbonsaeuren|carboxylic acids|acido carboxilico|Karbonsaeure|RC(=O)OH|carboxylic acid|Carbonsaeure|acide carboxylique owl:Class CHEBI:36586 biolink:NamedThing carbonyl compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. tmpte7i6ely_mondo_relaxed.owl carbonyl compounds owl:Class MONDO:0009033 biolink:NamedThing temtamy syndrome Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. tmpte7i6ely_mondo_relaxed.owl TEMTYS|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|TEMTAMY syndrome|Temtamy-Shalash syndrome|Dysmorphism, corpus callosum agenesis and colobomas|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|temtamy syndrome|intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum GARD:0005688|SCTID:719947004|OMIM:218340|UMLS:C1857512|Orphanet:1777|DOID:0111621|ICD10:Q87.8|NCIT:C148371|MESH:C536959 https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome owl:Class NCBITaxon:1392 biolink:NamedThing Bacillus anthracis tmpte7i6ely_mondo_relaxed.owl Bacillus cereus var. anthracis|anthrax|Bacteridium anthracis|anthrax bacterium GC_ID:11|PMID:8123566 NCBITaxon:1494577|NCBITaxon:1494531|NCBITaxon:1494525 ncbi_taxonomy owl:Class NCBITaxon:86661 biolink:NamedThing Bacillus cereus group tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:23475340|PMID:1715736|PMID:26373441 ncbi_taxonomy owl:Class MONDO:0005051 biolink:NamedThing invasive lobular breast carcinoma An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. tmpte7i6ely_mondo_relaxed.owl infiltrating lobular carcinoma of breast|lobular carcinoma NOS (morphologic abnormality)|infiltrating lobular breast carcinoma|infiltrating lobular carcinoma of the breast|breast invasive lobular carcinoma|invasive lobular breast carcinoma|lobular carcinoma|invasive lobular adenocarcinoma|infiltrating lobular adenocarcinoma|invasive lobular carcinoma of the breast|lobular carcinoma of the breast|invasive lobular carcinoma|invasive lobular carcinoma of breast|lobular carcinoma (morphologic abnormality)|invasive lobular carcinoma, classic type|classic invasive lobular carcinoma NCIT:C3771|UMLS:C0206692|SCTID:278054005|NCIT:C7950|ONCOTREE:ILC|EFO:0000553|UMLS:C0279565|DOID:3457 owl:Class MONDO:0006256 biolink:NamedThing invasive breast carcinoma A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. tmpte7i6ely_mondo_relaxed.owl infiltrating carcinoma of breast|BRCA|infiltrating breast carcinoma|invasive carcinoma of the breast|invasive breast cancer|invasive breast carcinoma|invasive mammary carcinoma|infiltrating breast cancer|infiltrating carcinoma of the breast|invasive carcinoma of breast UMLS:C0853879|SCTID:713609000|ONCOTREE:BRCA|EFO:1000307|NCIT:C9245 owl:Class MONDO:0018447 biolink:NamedThing chondromyxoid fibroma An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. tmpte7i6ely_mondo_relaxed.owl Chondromyxoid fibroma EFO:0000332|NCIT:C3830|ICDO:9241/0|Orphanet:404507|UMLS:C0221290|ICD10:D16.9 owl:Class MONDO:0024470 biolink:NamedThing benign chondrogenic neoplasm A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of cartilage|benign cartilaginous tumor|benign tumor of cartilage|benign chondrogenic neoplasm|benign cartilaginous neoplasm|benign tumor of the cartilage|benign neoplasm of the cartilage|benign chondrogenic tumor|chondrogenic neoplasm, benign NCIT:C8592|UMLS:C0852519|SCTID:722690001 owl:Class MONDO:0001263 biolink:NamedThing histoplasmosis retinitis An retinitis caused by infection with Histoplasma capsulatum. tmpte7i6ely_mondo_relaxed.owl histoplasmosis with retinitis|Histoplasma capsulatum caused retinitis|Histoplasma capsulatum retinitis UMLS:C0153278|ICD9:115.92|DOID:11316|SCTID:187058000 owl:Class MONDO:0002708 biolink:NamedThing retinitis Inflammation of the retina. tmpte7i6ely_mondo_relaxed.owl retina inflammation|inflammation of retina DOID:3612|ICD10:H30.9|MESH:D012173|NCIT:C115993|SCTID:399463004|UMLS:C0035333 owl:Class UBERON:0003562 biolink:NamedThing midbrain dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003288 biolink:NamedThing meninx of midbrain tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046676 biolink:NamedThing negative regulation of insulin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. tmpte7i6ely_mondo_relaxed.owl downregulation of insulin secretion|down-regulation of insulin secretion|inhibition of insulin secretion|down regulation of insulin secretion owl:Class GO:0050796 biolink:NamedThing regulation of insulin secretion Any process that modulates the frequency, rate or extent of the regulated release of insulin. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010408 biolink:NamedThing syndactyly-telecanthus-anogenital and renal malformations syndrome This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. tmpte7i6ely_mondo_relaxed.owl STAR syndrome|STAR|syndactyly-telecanthus-anogenital and renal malformations syndrome|syndactyly, telecanthus, anogenital and renal malformations|syndactyly with renal and anogenital malformations|toe syndactyly, telecanthus, anogenital and renal malformations|Star syndrome|toe syndactyly, telecanthus, and anogenital and renal malformations GARD:0010295|MESH:C567475|Orphanet:140952|UMLS:C2678045|SCTID:723581006|ICD10:Q87.8|OMIM:300707 owl:Class MONDO:0018454 biolink:NamedThing dysostosis of genetic origin An instance of dysostosis that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic dysostosis Orphanet:404568 owl:Class MONDO:0011941 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl MTBS1|Mycobacterium tuberculosis, susceptibility to, type 1|mycobacterium tuberculosis, susceptibility to, 1 OMIM:607949 owl:Class MONDO:0000070 biolink:NamedThing mycobacterium tuberculosis, susceptibility tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017867 biolink:NamedThing distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. tmpte7i6ely_mondo_relaxed.owl distal del(17)(p13.1) UMLS:CN203914|ICD10:Q93.5|Orphanet:319171 owl:Class GO:0060099 biolink:NamedThing regulation of phagocytosis, engulfment Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2p12-p11.2 biolink:NamedThing 2p12-p11.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class GO:0098687 biolink:NamedThing chromosomal region Any subdivision of a chromosome along its length. tmpte7i6ely_mondo_relaxed.owl chromosome region owl:Class MONDO:0011890 biolink:NamedThing Charcot-Marie-Tooth disease type 1D A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, demyelinating, type 1D|Charcot-Marie-Tooth neuropathy type 1D|EGR2 Charcot-Marie-Tooth disease type 1|HMSN ID|HMSN1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|CMT 1D|Charcot Marie Tooth disease type 1D|HMSN 1D|CMT1D|hereditary motor and sensory neuropathy 1D|Charcot-Marie-Tooth neuropathy, type 1D ICD10:G60.0|MESH:C537985|UMLS:C1843247|DOID:0110150|OMIM:607678|Orphanet:101084|GARD:0009189|SCTID:719979008 https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d owl:Class MONDO:0019011 biolink:NamedThing Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. tmpte7i6ely_mondo_relaxed.owl CMT1|Charcot-Marie-Tooth neuropathy type 1|Charcot-Marie-Tooth type 1|autosomal dominant demyelinating Charcot-Marie-Tooth disease|hereditary motor and sensory neuropathy type 1 DOID:0050538|SCTID:398040009|ICD10:G60.0|GARD:0012433|Orphanet:65753 owl:Class NCBITaxon:149546 biolink:NamedThing Histoplasma capsulatum var. duboisii tmpte7i6ely_mondo_relaxed.owl Histoplasma duboisii GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5037 biolink:NamedThing Histoplasma capsulatum tmpte7i6ely_mondo_relaxed.owl Ajellomyces capsulatus|Cryptococcus capsulatus|Emmonsiella capsulata GC_ID:1 NCBITaxon:61255 ncbi_taxonomy owl:Class MONDO:0000518 biolink:NamedThing sacrum chordoma A chordoma (disease) that involves the fused sacrum. tmpte7i6ely_mondo_relaxed.owl fused sacrum chordoma (disease)|chordoma (disease) of fused sacrum DOID:0050900|UMLS:C3164279|SCTID:447730004 owl:Class MONDO:0008978 biolink:NamedThing chordoma Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. tmpte7i6ely_mondo_relaxed.owl CHDM|chordoma|chordoma, malignant|chordoma (disease)|notochordal sarcoma|notochordoma|susceptibility to chordoma|chordoma, susceptibility to chordoma (disease) MESH:D002817|UMLS:C0008487|OMIM:215400|MedDRA:10008747|Orphanet:178|HP:0010762|GARD:0001303|ONCOTREE:CHDM|DOID:3302|NCIT:C2947|ICD10:C76.7|ICDO:9370/3 owl:Class GO:0090326 biolink:NamedThing positive regulation of locomotion involved in locomotory behavior Any process that increases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043067 biolink:NamedThing regulation of programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpte7i6ely_mondo_relaxed.owl regulation of non-apoptotic programmed cell death owl:Class GO:0010941 biolink:NamedThing regulation of cell death Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011738 biolink:NamedThing bilateral frontoparietal polymicrogyria Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia with neuronal migration defect|BFPP|polymicrogyria, bilateral frontoparietal|bilateral frontoparietal polymicrogyria Orphanet:101070|Orphanet:268940|MESH:C564652|ICD10:Q04.3|UMLS:C1847352|GARD:0010784|NCIT:C148367|OMIM:606854 https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria owl:Class HGNC:8840 biolink:NamedThing PEPD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007806 biolink:NamedThing hypotrichosis 4 Any hypotrichosis in which the cause of the disease is a mutation in the HR gene. tmpte7i6ely_mondo_relaxed.owl Muhh1|hypotrichosis type 4|HYPT4|hypt4|hypotrichosis caused by mutation in HR|HR hypotrichosis|Marie Unna hereditary hypotrichosis 1|hypotrichosis 4|hypotrichosis, Marie Unna type, 1 MESH:C567718|Orphanet:444|UMLS:C2750815|DOID:0110701|OMIM:146550 Editor note: consider merging into MUHH owl:Class MONDO:0003037 biolink:NamedThing hypotrichosis A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. tmpte7i6ely_mondo_relaxed.owl DOID:4535|Orphanet:55654|SCTID:53602002|NCIT:C34720|ICD9:704.09|OMIMPS:605389|MESH:D007039 owl:Class MONDO:0015040 biolink:NamedThing myelodysplastic syndrome with excess blasts-1 A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO) tmpte7i6ely_mondo_relaxed.owl refractory anemia with excess blasts type 1|RAEB-1|RAEB-I|myelodysplastic syndrome with Excess blasts-1|MDS-EB-1 UMLS:C1318550|NCIT:C7167|Orphanet:100019|ICD10:D46.2 owl:Class MONDO:0019454 biolink:NamedThing myelodysplastic syndrome with excess blasts A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. tmpte7i6ely_mondo_relaxed.owl RAEB|refractory Anemia with Excess blasts|refractory Anemia with an Excess of blasts|myelodysplastic syndrome with Excess blasts|MDS-EB ICDO:9983/3|ICD10:D46.2|Orphanet:86839|UMLS:C0002894|MedDRA:10038270|SCTID:398623004|EFO:0003811|MESH:D000754|NCIT:C7506 owl:Class GO:0071305 biolink:NamedThing cellular response to vitamin D Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpte7i6ely_mondo_relaxed.owl cellular response to calciferol|cellular response to ergocalciferol|cellular response to cholecalciferol owl:Class GO:0071295 biolink:NamedThing cellular response to vitamin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000465 biolink:NamedThing chromaffin cell of ovary A chromaffin cell that is part of the ovary. tmpte7i6ely_mondo_relaxed.owl FMA:74319 cell owl:Class CL:2000064 biolink:NamedThing ovarian surface epithelial cell Any epithelial cell that is part of a female gonad. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7310 TermGenie 2014-10-07T17:59:13Z cell owl:Class MONDO:0019225 biolink:NamedThing gluconeogenesis disorder An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis. tmpte7i6ely_mondo_relaxed.owl inborn gluconeogenesis disorder|rare inborn error of gluconeogenesis|inborn error of gluconeogenesis Orphanet:79177|UMLS:CN227592|ICD10:E74.4 owl:Class MONDO:0002908 biolink:NamedThing glucose metabolism disease A metabolic disorder characterized by abnormal blood glucose levels. tmpte7i6ely_mondo_relaxed.owl disorder of glucose metabolism|glucose metabolism disorder ICD9:271.8|DOID:4194|UMLS:C1257958|MESH:D044882|NCIT:C53655|SCTID:126877002 owl:Class MONDO:0005842 biolink:NamedThing maxillary sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. tmpte7i6ely_mondo_relaxed.owl DOID:2051|EFO:0007361|MESH:D015523|UMLS:C0024959|SCTID:88348008|ICD10:J32.0|NCIT:C34809 owl:Class MONDO:0006858 biolink:NamedThing mouth disorder A disease involving the mouth. tmpte7i6ely_mondo_relaxed.owl disorder of mouth|mouth disease|disease or disorder of mouth|mouth disease or disorder|oral disease|oral disorder|disease of mouth UMLS:C0026636|NCIT:C3240|EFO:1001047|DOID:403|MESH:D009059|ICD9:528.9|SCTID:118938008 owl:Class UBERON:0004793 biolink:NamedThing secretion of exocrine pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000456 biolink:NamedThing secretion of exocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012281 biolink:NamedThing perianal sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016852 biolink:NamedThing skin scent gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004952 biolink:NamedThing Hodgkins lymphoma Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. tmpte7i6ely_mondo_relaxed.owl lymphoma, Hodgkin's|HL|Hodgkin's lymphoma|Hodgkin's disease|Hodgkin disease|Hodgkin's sarcoma|stage II subdiaphragmatic Hodgkin lymphoma|Hodgkins lymphoma|stage I subdiaphragmatic Hodgkin lymphoma|Hodgkin lymphoma NCIT:C26956|Orphanet:98293|GARD:0002714|NCIT:C6914|ICD9:201|DOID:8567|OMIM:300221|ONCOTREE:HL|ICD9:201.1|ICD9:201.0|ICDO:9650/3|ICD9:201.9|DOID:8651|ICD9:201.2|NCIT:C9357|EFO:0000183|OMIM:236000|ICD10:C81|SCTID:118602004|MESH:D006689|OMIM:400021|ICD10:C81.9|ICD9:201.90 owl:Class MONDO:0017343 biolink:NamedThing Epstein-Barr virus-associated malignant lymphoproliferative disorder tmpte7i6ely_mondo_relaxed.owl EBV-associated lymphoproliferative disorder MedDRA:10068349|Orphanet:289644|UMLS:C2363744 the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV owl:Class HP:0000011 biolink:NamedThing Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. tmpte7i6ely_mondo_relaxed.owl Lack of bladder control due to nervous system injury SNOMEDCT_US:398064005|MSH:D001750|UMLS:C0005697|SNOMEDCT_US:397732007 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. human_phenotype owl:Class HP:0000009 biolink:NamedThing Functional abnormality of the bladder Dysfunction of the urinary bladder. tmpte7i6ely_mondo_relaxed.owl Poor bladder function UMLS:C3806583 HP:0004424|HP:0008731 human_phenotype owl:Class MONDO:0009596 biolink:NamedThing metaphyseal chondrodysplasia, Pena type tmpte7i6ely_mondo_relaxed.owl metaphyseal chondrodysplasia, Pena type UMLS:C1855195|MESH:C565399|OMIM:250300 owl:Class MONDO:0000827 biolink:NamedThing salmonellosis Infections with bacteria of the genus salmonella. tmpte7i6ely_mondo_relaxed.owl Salmonella infection|infections, Salmonella|rare form of salmonellosis UMLS:C0036117|MedDRA:10039447|ICD9:003.0|ICD10:A01.1|SCTID:302231008|ICD10:A02.2|ICD10:A01.3|ICD9:003.9|ICD10:A02.1|DOID:0060859|EFO:1001418|ICD10:A01.0|ICD10:A02.8|ICD10:A02.0|ICD9:003.8|UMLS:CN205993|ICD10:A01.4|ICD10:A02.9|Orphanet:795|ICD10:A01.2|MESH:D012480 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0000314 biolink:NamedThing primary bacterial infectious disease tmpte7i6ely_mondo_relaxed.owl DOID:0050338 owl:Class CHEBI:52214 biolink:NamedThing ligand Any molecule or ion capable of binding to a central metal atom to form coordination complexes. tmpte7i6ely_mondo_relaxed.owl ligands owl:Class CHEBI:51086 biolink:NamedThing chemical role A role played by the molecular entity or part thereof within a chemical context. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014505 biolink:NamedThing developmental and epileptic encephalopathy, 27 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 27|early infantile epileptic encephalopathy caused by mutation in GRIN2B|epileptic encephalopathy, early infantile, type 27|DEE27|EIEE27|GRIN2B early infantile epileptic encephalopathy DOID:0080444|UMLS:C4015316|Orphanet:3451|OMIM:616139 owl:Class MONDO:0010674 biolink:NamedThing mucopolysaccharidosis type 2 A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. tmpte7i6ely_mondo_relaxed.owl MPSII|SIDS deficiency|sulfoiduronate sulfatase deficiency|deficiency of iduronate-2-sulphatase|severe MPS II|MPS with skin involvement|mucopolysaccharidosis type 2|iduronate 2-sulfatase deficiency|mucopolysaccharidosis, type II|Hunter syndrome|MPS II|IDS deficiency|mucopolysaccharidosis, type 2|MPS 2|Hunter's syndrome|mucopolysaccharidosis, MPS-II|attenuated MPS (subtype; formerly known as mild MPS II)|mucopolysaccharidosis II|MPS2|mucopolysaccharidosis type II|MPS II - Hunter syndrome|I2S deficiency|mucopolysaccharidosis with skin involvement ICD10:E76.1|OMIM:309900|NCIT:C61260|GARD:0006675|Orphanet:580|SCTID:70737009|MedDRA:10056889|UMLS:C0026705|DOID:12799|Orphanet:79388|MESH:D016532 owl:Class MONDO:0001074 biolink:NamedThing chronic tic disorder A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. tmpte7i6ely_mondo_relaxed.owl chronic motor or vocal tic disorder|tic disorder, chronic ICD9:307.22|ICD10:F95.1|NCIT:C116768|MESH:D013981|DOID:10600 owl:Class MONDO:0002420 biolink:NamedThing tic disorder Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994) tmpte7i6ely_mondo_relaxed.owl SCTID:568005|DOID:2769|MESH:D013981|ICD10:F95.9|ICD9:307.2|ICD9:307.20|ICD10:F95 owl:Class UBERON:0000047 biolink:NamedThing simple eye tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000970 biolink:NamedThing eye tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000316 biolink:NamedThing Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). tmpte7i6ely_mondo_relaxed.owl Increased distance between eyes|Increased distance between eye sockets|Ocular hypertelorism|Excessive orbital separation|Wide-set eyes|Increased interpupillary distance|Widely spaced eyes|Widened interpupillary distance SNOMEDCT_US:194021007|MSH:D006972|UMLS:C0020534|SNOMEDCT_US:22006008 HP:0002001|HP:0007871|HP:0000578|HP:0004657 human_phenotype owl:Class HP:0100886 biolink:NamedThing Abnormality of globe location An abnormality in the placement of the ocular globe (eyeball). tmpte7i6ely_mondo_relaxed.owl Abnormality of eyeball location|Abnormality of eyeball position|Abnormality of globe position UMLS:C4021946 doelkens 2011-12-13T04:25:29Z human_phenotype owl:Class UBERON:0001612 biolink:NamedThing facial artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001637 biolink:NamedThing artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018939 biolink:NamedThing muscle-eye-brain disease A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. tmpte7i6ely_mondo_relaxed.owl MEB syndrome|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3|Santavuori congenital muscular dystrophy|muscle-eye-brain syndrome|MEB|muscle eye brain disease OMIM:253800|GARD:0000156|ICD9:742.4|OMIM:253280|SCTID:277950001|OMIM:613154|OMIM:236670|OMIM:615350|OMIM:613153|ICD10:Q04.3|Orphanet:588|OMIM:613150|OMIM:615181 https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease owl:Class MONDO:0018276 biolink:NamedThing muscular dystrophy-dystroglycanopathy tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy|congenital muscular dystrophy due to dystroglycanopathy|CMD due to dystroglycanopathy OMIM:613150|OMIM:615181|OMIM:613153|OMIM:616052|ICD10:G71.2|OMIM:615287|Orphanet:370953|DOID:0050588|OMIM:616094|GARD:0012584|OMIM:615249|OMIM:614643|OMIM:613154|OMIM:613155|OMIM:615350|OMIM:613151|OMIM:615041|UMLS:CN229783|OMIM:613156|OMIM:613152|OMIM:615351|OMIM:614830 owl:Class GO:0060556 biolink:NamedThing regulation of vitamin D biosynthetic process Any process that modulates the rate frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030656 biolink:NamedThing regulation of vitamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl regulation of vitamin metabolism owl:Class GO:0043603 biolink:NamedThing cellular amide metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl amide metabolism owl:Class GO:0034641 biolink:NamedThing cellular nitrogen compound metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular nitrogen compound metabolism owl:Class UBERON:0004464 biolink:NamedThing musculature of thorax tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004479 biolink:NamedThing musculature of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000297 biolink:NamedThing baylisascariasis An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. tmpte7i6ely_mondo_relaxed.owl Baylisascaris procyonis infectious disease|Baylisascaris procyonis disease or disorder|raccoon roundworm infection|Baylisascaris procyonis caused disease or disorder DOID:0050259|UMLS:C0277150|UMLS:C0162626|NCIT:C128397 owl:Class UBERON:0001037 biolink:NamedThing strand of hair tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014770 biolink:NamedThing palpebral artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410016 biolink:NamedThing descending sigmoid junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007651 biolink:NamedThing anatomical junction tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000611 biolink:NamedThing positive regulation of thyroid hormone generation Any process that activates or increases the frequency, rate or extent of thyroid hormone generation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051173 biolink:NamedThing positive regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpte7i6ely_mondo_relaxed.owl activation of nitrogen metabolic process|positive regulation of nitrogen metabolism|up regulation of nitrogen metabolic process|stimulation of nitrogen metabolic process|upregulation of nitrogen metabolic process|positive regulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process owl:Class MONDO:0009618 biolink:NamedThing microcephaly-cardiomyopathy syndrome A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl severe microcephaly and self-limiting dilated cardiomyopathy|microcephaly with cardiomyopathy|Winship-Viljoen-Leary syndrome|severe microcephaly with mental retardation and dilated cardiomyopathy|microcephaly-cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy Orphanet:2515|SCTID:719380003|ICD10:Q87.8|UMLS:C1855080|MESH:C536711|OMIM:251220|GARD:0003609 owl:Class MONDO:0019977 biolink:NamedThing parkinsonism with dementia of Guadeloupe Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. tmpte7i6ely_mondo_relaxed.owl SCTID:715737004|ICD10:F02.3*|Orphanet:97355|UMLS:CN206908|ICD10:G20+ owl:Class MONDO:0001627 biolink:NamedThing dementia Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. tmpte7i6ely_mondo_relaxed.owl dementia (disease)|dementia dementia (disease) GARD:0011946|MESH:D003704|ICD9:294.8|DOID:1307|ICD9:294.1|ICD9:290.8|NCIT:C4786|SCTID:52448006 owl:Class MONDO:0000939 biolink:NamedThing intracranial abscess An abscess that is located in the intracranial space. tmpte7i6ely_mondo_relaxed.owl DOID:10095|UMLS:C0021874|ICD9:324.0|SCTID:27614006|NCIT:C34734 owl:Class MONDO:0005227 biolink:NamedThing abscess An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. tmpte7i6ely_mondo_relaxed.owl abscess (disease) abscess (disease) ICD9:682.9|NCIT:C26686|MESH:D000038|SCTID:128477000|EFO:0003030|Wikipedia:Abscess|ICD9:682.8|UMLS:C0000833 owl:Class UBERON:0003583 biolink:NamedThing larynx connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003570 biolink:NamedThing respiratory system connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011981 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl AITD2|autoimmune thyroid disease, susceptibility to, 2|autoimmune thyroid disease, susceptibility to, type 2 OMIM:608174|UMLS:C1842445 owl:Class MONDO:0000162 biolink:NamedThing autoimmune thyroid disease, susceptibility to tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014521 biolink:NamedThing progressive myoclonic epilepsy type 7 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene. tmpte7i6ely_mondo_relaxed.owl myoclonus epilepsy and ataxia due to potassium channel mutation|progressive myoclonic epilepsy caused by mutation in KCNC1|progressive myoclonic epilepsy due to KV3.1 deficiency|epilepsy, progressive myoclonic 7|progressive myoclonus epilepsy type 7|epilepsy, progressive myoclonic type 7|KCNC1 progressive myoclonic epilepsy|meak|EPM7|PME type 7 UMLS:C4015420|ICD10:G40.3|OMIM:616187|DOID:0111447|NCIT:C142804|Orphanet:435438 owl:Class MONDO:0020074 biolink:NamedThing progressive myoclonus epilepsy A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. tmpte7i6ely_mondo_relaxed.owl progressive myoclonic epilepsy|epilepsy, progressive myoclonic|familial progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|progressive myoclonus epilepsy|PME OMIM:614018|OMIMPS:254800|GARD:0007140|NCIT:C7636|OMIM:611726|OMIM:310370|SCTID:267581004|Orphanet:98261|OMIM:612437|OMIM:254900|MESH:D020191|DOID:891|UMLS:C0751778 owl:Class MONDO:0024885 biolink:NamedThing malignant ovarian serous tumor An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. tmpte7i6ely_mondo_relaxed.owl ovarian serous tumor, malignant|malignant ovarian serous tumor NCIT:C40025 owl:Class MONDO:0037255 biolink:NamedThing ovarian serous tumor A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage. tmpte7i6ely_mondo_relaxed.owl serous neoplasm of the ovary|ovarian serous neoplasm|serous tumor of ovary|serous tumor of the ovary|ovarian serous tumor|serous neoplasm of ovary NCIT:C8431|UMLS:C0476122 owl:Class GO:0070132 biolink:NamedThing regulation of mitochondrial translational initiation Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrial translation initiation owl:Class HGNC:2888 biolink:NamedThing DISC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001518 biolink:NamedThing spastic entropion tmpte7i6ely_mondo_relaxed.owl DOID:12395|SCTID:20828000|UMLS:C0155190|ICD9:374.03 owl:Class MONDO:0001519 biolink:NamedThing entropion The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl entropion (disease)|entropion entropion (disease) SCTID:33168009|ICD9:374.00|DOID:12397|HP:0000621|UMLS:C0014390|MESH:D004774 owl:Class MONDO:0043549 biolink:NamedThing crush syndrome A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. tmpte7i6ely_mondo_relaxed.owl crush syndrome|syndromes, crush|myoglobinuric nephrosis|acute renal failure due to rhabdomyolysis|renal failure following crushing injury|syndrome, crush|ischemic muscular necrosis syndrome|crush syndromes|myoglobinuric acute renal failure|crush kidney|bywaters' syndrome SCTID:23697004|MESH:D003444 owl:Class MONDO:0005240 biolink:NamedThing kidney disorder A disease involving the kidney. tmpte7i6ely_mondo_relaxed.owl kidney disorder|nephropathy|kidney disease or disorder|disease or disorder of kidney|disorder of kidney|kidney disease|renal disease|renal disorder|disease of kidney DOID:557|ICD10:N08|UMLS:C0022658|ICD10:N28.9|NCIT:C3149|SCTID:90708001|MESH:D007674|EFO:0003086|ICD9:583.81 owl:Class MONDO:0009768 biolink:NamedThing oculodentodigital dysplasia, autosomal recessive Autosomal recessive form of oculodentodigital dysplasia. tmpte7i6ely_mondo_relaxed.owl oculodentodigital dysplasia, autosomal recessive|ODOD recessive|ODOD, autosomal recessive|ODDD, autosomal recessive|autosomal recessive oculodentodigital dysplasia|oculodentoosseous dysplasia, autosomal recessive|oculodentoosseous dysplasia recessive UMLS:C2749477|GARD:0004045|MESH:C567605|OMIM:257850|Orphanet:2710 owl:Class MONDO:0008111 biolink:NamedThing oculodentodigital dysplasia Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl oculodentoosseous dysplasia|ODDD|odd syndrome|ODDD syndrome|Meyer-Schwickerath syndrome|oculodentodigital dysplasia|oculodentodigital syndrome|oculo-dento-digital dysplasia|oculo-dento-digital syndrome MESH:C563160|OMIM:257850|GARD:0007239|ICD9:759.89|MedDRA:10063691|DOID:0060291|OMIM:164200|Orphanet:2710|SCTID:38215007|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia owl:Class GO:2000832 biolink:NamedThing negative regulation of steroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000831 biolink:NamedThing regulation of steroid hormone secretion Any process that modulates the frequency, rate or extent of steroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032628 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 24 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24|MC1DN24 OMIM:618245 owl:Class MONDO:0100223 biolink:NamedThing mitochondrial complex I deficiency, nuclear type tmpte7i6ely_mondo_relaxed.owl OMIMPS:252010 Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013508 biolink:NamedThing myopia 19, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 19, autosomal dominant|MYP19 OMIM:613969|UMLS:C3151410 owl:Class MONDO:0001384 biolink:NamedThing myopia The condition in which the individual does not see far distances clearly. tmpte7i6ely_mondo_relaxed.owl myopia|short-sightedness|myopia (disease)|near-sightedness|near vision myopia (disease) ICD10:H52.1|ICD9:367.1|NCIT:C102533|OMIMPS:160700|SCTID:57190000|DOID:11830|MESH:D009216|HP:0000545|EFO:0003927|UMLS:C0027092 owl:Class MONDO:0004914 biolink:NamedThing celiac artery stenosis from compression by median arcuate ligament of diaphragm A syndromic disease that involves the median arcuate ligament. tmpte7i6ely_mondo_relaxed.owl celiac access syndrome|syndromic disease of median arcuate ligament|Marable's syndrome|celiac artery compression syndrome|celiac artery stenosis from compression by median arcuate ligament of diaphragm|median arcuate ligament syndrome|median arcuate ligament syndromic disease|Harjola-Marable syndrome MESH:C566151|SCTID:9250002|DOID:9892|OMIM:116870|ICD10:I77.4|GARD:0012308|UMLS:C1861783|ICD9:447.4 https://github.com/monarch-initiative/mondo/issues/3691 owl:Class MONDO:0000473 biolink:NamedThing arterial disorder An impairment of the structure or function of the blood vessels which carry blood away from the heart. tmpte7i6ely_mondo_relaxed.owl disease of artery|artery disease|disease or disorder of artery|arterial disease|arteriopathy|disorder of artery|arterial disorder|artery disease or disorder ICD9:447.8|UMLS:C0852949|NCIT:C35317|ICD9:447.9|SCTID:359557001|DOID:0050828 owl:Class UBERON:0010532 biolink:NamedThing primitive nephron tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006555 biolink:NamedThing excretory tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007230 biolink:NamedThing Brachymorphism-onychodysplasia-dysphalangism syndrome Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. tmpte7i6ely_mondo_relaxed.owl bod syndrome|Senior syndrome|Brachymorphism-onychodysplasia-dysphalangism syndrome|Brachymorphism onychodysplasia dysphalangism syndrome MESH:C536242|GARD:0000918|OMIM:113477|ICD10:Q87.1|SCTID:720573009|UMLS:C1862082|Orphanet:1292 owl:Class MONDO:0014039 biolink:NamedThing mitochondrial DNA depletion syndrome 11 Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. tmpte7i6ely_mondo_relaxed.owl PEO-myopathy-emaciation syndrome|mitochondrial DNA depletion syndrome caused by mutation in MGME1|mitochondrial DNA depletion syndrome 11|mitochondrial DNA maintenance syndrome due to MGME1 deficiency|MTDPS11|progressive external ophthalmoplegia-myopathy-emaciation syndrome|mitochondrial DNA depletion syndrome type 11|MGME1 mitochondrial DNA depletion syndrome|mtDNA maintenance syndrome due to MGME1 deficiency ICD10:G71.3|Orphanet:352447|UMLS:C3554462|DOID:0080129|OMIM:615084 owl:Class MONDO:0018158 biolink:NamedThing mitochondrial DNA depletion syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. tmpte7i6ely_mondo_relaxed.owl mtDNA depletion syndrome OMIMPS:603041|UMLS:CN239350|ICD10:G71.3|Orphanet:35698|MedDRA:10059396|DOID:0070329 owl:Class CL:0000404 biolink:NamedThing electrically signaling cell A cell that initiates an electrical signal and passes that signal to another cell. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000211 biolink:NamedThing electrically active cell A cell whose function is determined by the generation or the reception of an electric signal. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:9175 biolink:NamedThing POLD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001084 biolink:NamedThing primary optic atrophy tmpte7i6ely_mondo_relaxed.owl UMLS:C0155291|SCTID:21098003|ICD9:377.11|DOID:10627|ICD10:H47.21 owl:Class UBERON:0035767 biolink:NamedThing intrapulmonary bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002185 biolink:NamedThing bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051099 biolink:NamedThing positive regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpte7i6ely_mondo_relaxed.owl activation of binding|up-regulation of binding|stimulation of binding|upregulation of binding|up regulation of binding owl:Class GO:0051098 biolink:NamedThing regulation of binding Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003386 biolink:NamedThing smooth muscle of eye tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043254 biolink:NamedThing regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly. tmpte7i6ely_mondo_relaxed.owl regulation of protein complex assembly owl:Class GO:1904063 biolink:NamedThing negative regulation of cation transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport. tmpte7i6ely_mondo_relaxed.owl inhibition of cation transmembrane transport|down-regulation of cation transmembrane transport|downregulation of cation transmembrane transport|down regulation of cation transmembrane transport owl:Class GO:1904062 biolink:NamedThing regulation of cation transmembrane transport Any process that modulates the frequency, rate or extent of cation transmembrane transport. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002244 biolink:NamedThing premaxilla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011597 biolink:NamedThing bone of upper jaw tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014452 biolink:NamedThing familial dysfibrinogenemia Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. tmpte7i6ely_mondo_relaxed.owl congenital dysfibrinogenemia|dysfibrinogenemia, familial|familial dysfibrinogenemia|hypodysfibrinogenemia, congenital|dysfibrinogenemia|dysfibrinogenemia, congenital UMLS:CN207171|SCTID:111589005|ICD9:286.3|Orphanet:335|NCIT:C131659|UMLS:C1260903|ICD10:D68.2|GARD:0002004|Orphanet:248408|OMIM:616004|Orphanet:98881 https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia owl:Class MONDO:0018060 biolink:NamedThing congenital fibrinogen deficiency Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). tmpte7i6ely_mondo_relaxed.owl fibrinogen deficiency, congenital|congenital fibrinogen deficiency OMIM:202400|OMIM:616004|GARD:0002320|Orphanet:335|ICD10:D68.2 https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital owl:Class HGNC:9820 biolink:NamedThing RAD51C tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002134 biolink:NamedThing tricuspid valve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005208 biolink:NamedThing right atrium valve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002645 biolink:NamedThing positive regulation of tolerance induction Any process that activates or increases the frequency, rate, or extent of tolerance induction. tmpte7i6ely_mondo_relaxed.owl up-regulation of tolerance induction|stimulation of tolerance induction|activation of tolerance induction|up regulation of tolerance induction|upregulation of tolerance induction owl:Class GO:0002643 biolink:NamedThing regulation of tolerance induction Any process that modulates the frequency, rate, or extent of tolerance induction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005790 biolink:NamedThing hepatitis A virus infection Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. tmpte7i6ely_mondo_relaxed.owl viral hepatitis, type A|hepatitis type A|Hepatitis A|viral hepatitis A|Hepatitis A infection NCIT:C3096|UMLS:C0019159|DOID:12549|MESH:D006506|SCTID:40468003|EFO:0007305 owl:Class MONDO:0006011 biolink:NamedThing viral hepatitis An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. tmpte7i6ely_mondo_relaxed.owl unspecified viral hepatitis with hepatic coma|viral human hepatitis|viral Hepatitis|Viruses hepatitis|Hepatitis viral|human viral hepatitis|viral hepatitis with hepatic coma|Viruses caused hepatitis DOID:1884|ICD10:B15.B19|ICD9:573.1|MESH:D006525|EFO:0004196|NCIT:C35124|MESH:D006524|UMLS:C0042721|UMLS:C0019195|SCTID:3738000|UMLS:C0019194 Editor note: consider adding term for viral animal viral hepatitis owl:Class MONDO:0060766 biolink:NamedThing anal polyp A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma. tmpte7i6ely_mondo_relaxed.owl polyp of anus|polyp of the anus|anal polyp SCTID:88580009|NCIT:C3957|UMLS:C0267573 owl:Class MONDO:0005079 biolink:NamedThing polyp A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. tmpte7i6ely_mondo_relaxed.owl polyp SCTID:441456002|NCIT:C3340|MESH:D011127|ICD10:N84|EFO:0000662 owl:Class UBERON:0000414 biolink:NamedThing mucous gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002365 biolink:NamedThing exocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25403 biolink:NamedThing SASS6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009009 biolink:NamedThing hypoplasminogenemia Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. tmpte7i6ely_mondo_relaxed.owl Dysplasminogenemia|ligneous conjunctivitis|plasminogen deficiency, type 1|type 1 plasminogen deficiency|plasminogen deficiency type 1|plasminogen deficiency, type 2|plasminogen deficiency, type I|hypoplasminogenemia MESH:C580017|OMIM:217090|GARD:0004380|ICD10:L90.5|SCTID:95840007|Orphanet:722|UMLS:C1968804|UMLS:C0398621 owl:Class GO:0001525 biolink:NamedThing angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. tmpte7i6ely_mondo_relaxed.owl blood vessel formation from pre-existing blood vessels owl:Class GO:0048646 biolink:NamedThing anatomical structure formation involved in morphogenesis The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpte7i6ely_mondo_relaxed.owl formation of an anatomical structure involved in morphogenesis owl:Class MONDO:0018223 biolink:NamedThing systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. tmpte7i6ely_mondo_relaxed.owl systemic EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV-positive T-cell lymphoma of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV-positive T-cell lymphoproliferative disease of childhood|systemic EBV+ T-cell LPD of childhood UMLS:CN204753|NCIT:C80374|ICDO:9724/3|Orphanet:364033|ICD10:D47.9|SCTID:721311006|DOID:0070324|ICD10CM:D47.9 owl:Class MONDO:0003659 biolink:NamedThing pediatric lymphoma A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood lymphoma|pediatric lymphoma|lymphoma UMLS:C1332979|NCIT:C5165|DOID:5823 owl:Class UBERON:0014892 biolink:NamedThing skeletal muscle organ tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000022 biolink:NamedThing female germ line stem cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000021 biolink:NamedThing female germ cell Female germ cell is a germ cell that supports female gamete production. tmpte7i6ely_mondo_relaxed.owl VHOG:0001530|ncithesaurus:Egg|MA:0000388 cell owl:Class NCBITaxon:5796 biolink:NamedThing Coccidia tmpte7i6ely_mondo_relaxed.owl coccidians GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1280412 biolink:NamedThing Conoidasida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021381 biolink:NamedThing neoplasm of pericardium A neoplasm (disease) that involves the pericardium. tmpte7i6ely_mondo_relaxed.owl pericardial tumor|tumor of pericardium|neoplasm of the pericardium|pericardium neoplasm|pericardium tumor|tumor of the pericardium|pericardial neoplasm|neoplasm of pericardium|pericardium neoplasm (disease) NCIT:C4651|ICD9:239.89|SCTID:126734005 owl:Class MONDO:0024757 biolink:NamedThing cardiovascular neoplasm A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. tmpte7i6ely_mondo_relaxed.owl cardiovascular neoplasm|cardiovascular tumor|tumor of cardiovascular system|cardiovascular system tumor|neoplasm of cardiovascular system|cardiovascular system neoplasm UMLS:C0497243|SCTID:721573003|NCIT:C4784 owl:Class MONDO:0020597 biolink:NamedThing angiokeratoma of scrotum An angiokeratoma that is located on the scrotum. tmpte7i6ely_mondo_relaxed.owl fordyce angiokeratoma|fordyce-type angiokeratoma of the scrotum|angiokeratoma of the scrotum|scrotum angiokeratoma|fordyce-type angiokeratoma of scrotum|scrotal fordyce-type angiokeratoma|angiokeratoma of scrotum|scrotal angiokeratoma|angiokeratoma of fordyce SCTID:735082004|NCIT:C7752 owl:Class MONDO:0003954 biolink:NamedThing angiokeratoma of Fordyce An angiokeratoma that is located on the scrotum or vulva. tmpte7i6ely_mondo_relaxed.owl Fordyce-type angiokeratoma of scrotum|Fordyce angiokeratoma|Fordyce's spot SCTID:6331000|NCIT:C7752|UMLS:C0263639|DOID:664 owl:Class MONDO:0004817 biolink:NamedThing non-secretory plasma cell myeloma A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine. tmpte7i6ely_mondo_relaxed.owl non-functioning myeloma|non-secretory myeloma|non-secretory multiple myeloma|non-secreting myeloma|non-secretory plasma cell myeloma NCIT:C4734|UMLS:C3898125|SCTID:277580004|DOID:9547|UMLS:C0456845 owl:Class MONDO:0009693 biolink:NamedThing plasma cell myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl amyloidosis, systemic|medullary plasmacytoma|myeloma - multiple|myeloma|Kahler's disease|myelomatosis|myeloid neoplasm of plasma cell|Al amyloidosis|myeloma, plasma cell, malignant|multiple myeloma|plasma cell myeloid neoplasm|myeloma, multiple|multiple myeloma/plasma cell myeloma|Kahler disease|plasma cell myeloma OMIM:254500|Orphanet:29073|MedDRA:10028228|ICD10:C90.0|ICDO:9732/3|EFO:0001378|Orphanet:314701|NCIT:C3242|DOID:9538|ONCOTREE:PCM|MESH:D009101|Orphanet:85443|ICD10:C90.00|ICD9:203.0|UMLS:C0026764|GARD:0007108 https://github.com/monarch-initiative/mondo/issues/1506 owl:Class GO:0004972 biolink:NamedThing NMDA glutamate receptor activity An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. tmpte7i6ely_mondo_relaxed.owl NMDA receptor|N-methyl-D-aspartate selective glutamate receptor activity owl:Class GO:0004970 biolink:NamedThing ionotropic glutamate receptor activity Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005418 biolink:NamedThing hindlimb bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005420 biolink:NamedThing pelvic appendage bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018910 biolink:NamedThing oculocutaneous albinism Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. tmpte7i6ely_mondo_relaxed.owl OCA|albinism, oculocutaneous|non-syndromic oculocutaneous albinism|nonsyndromic oculocutaneous albinism OMIM:606952|OMIM:615312|MESH:D016115|OMIM:606574|OMIMPS:203100|OMIM:203100|DOID:0050632|OMIM:203290|OMIM:203200|OMIM:614473|GARD:0010958|ICD9:270.2|SCTID:63844009|Orphanet:55|UMLS:C0078918|ICD10:E70.3|NCIT:C84941 https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism owl:Class MONDO:0019290 biolink:NamedThing hypopigmentation of the skin A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. tmpte7i6ely_mondo_relaxed.owl hypopigmentation of the skin|hypopigmentation of the skin (disease)|hypomelanoses|hypomelanosis hypopigmentation of the skin (disease) MESH:D017496|HP:0001010|MedDRA:10040868|Orphanet:79376 owl:Class MONDO:0007297 biolink:NamedThing ADan amyloidosis A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. tmpte7i6ely_mondo_relaxed.owl FDD|ITM2B-related cerebral amyloid angiopathy 2|dementia, familial Danish|cerebral amyloid angiopathy, ITM2B-related, type 2|cerebral amyloid angiopathy, ITM2B-RELATED, 2|familial Danish dementia|familial dementia, Danish type|HOOE|cerebellar ataxia, cataract, deafness, and dementia or psychosis|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|Heredopathia Ophthalmootoencephalica UMLS:C1861735|ICD10:I68.0*|ICD10:E85.4+|MESH:C538209|GARD:0009169|DOID:0070030|Orphanet:97346|OMIM:117300 owl:Class MONDO:0005620 biolink:NamedThing cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. tmpte7i6ely_mondo_relaxed.owl HCHWA|cerebral amyloid angiopathy, familial|CAA, familial|cerebral amyloid angiopathy, genetic|dutch hereditary cerebral amyloid angiopathy|hereditary cerebral haemorrhage with amyloidosis - Dutch type EFO:0006790|ICD10:I68.0*|Orphanet:85458|OMIM:105150|SCTID:230724001|NCIT:C84625|OMIM:605714|ICD10:E85.4+|ICD9:277.39|MESH:D016657|ICD10:I68.0|DOID:9246|OMIM:117300|SCTID:56453003|GARD:0010266|OMIM:176500 owl:Class UBERON:0002413 biolink:NamedThing cervical vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004451 biolink:NamedThing trunk or cervical vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008228 biolink:NamedThing pernicious anemia Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. tmpte7i6ely_mondo_relaxed.owl Addison-Biermer anemia|Addison's anaemia|Biermer disease|acquired pernicious anemia|Biermer's anemia|juvenile onset pernicious anemia|Biermer anemia|pernicious anemia|intrinsic factor deficiency|Addison anaemia|anemia pernicious DOID:13381|NCIT:C2871|ICD9:281.0|Orphanet:120|OMIM:170900|EFO:0005576|UMLS:C0002892|MESH:D000752|SCTID:84027009|ICD10:D51.0|GARD:0012671 owl:Class MONDO:0012567 biolink:NamedThing autism, susceptibility to, 12 tmpte7i6ely_mondo_relaxed.owl AUTS12|autism, susceptibility to, 12 OMIM:610838 owl:Class MONDO:0020836 biolink:NamedThing autism, susceptiblity to tmpte7i6ely_mondo_relaxed.owl OMIMPS:209850 owl:Class NCBITaxon:1643688 biolink:NamedThing Leptospirales tmpte7i6ely_mondo_relaxed.owl Leptospiriales GC_ID:11|PMID:23908650 ncbi_taxonomy owl:Class NCBITaxon:203692 biolink:NamedThing Spirochaetia tmpte7i6ely_mondo_relaxed.owl "Leptospiria" Cavalier-Smith 2020|Spirochaetes GC_ID:11|PMID:26654112|PMID:25288668|PMID:11837318 ncbi_taxonomy owl:Class MONDO:0020288 biolink:NamedThing atrioventricular valve anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98720 owl:Class MONDO:0002869 biolink:NamedThing heart valve disorder A disease involving the cardial valve. tmpte7i6ely_mondo_relaxed.owl disorder of cardial valve|heart valve disorder|disorder of heart valve|valvular heart disorder|valvular heart disease|disease of cardial valve|cardial valve disease or disorder|cardial valve disease|disease or disorder of cardial valve SCTID:368009|UMLS:C0018824|ICD9:424.99|DOID:4079|NCIT:C45525|MESH:D006349 owl:Class MONDO:0014065 biolink:NamedThing mitochondrial complex III deficiency nuclear type 4 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex III deficiency, nuclear type 4|MC3DN4|mitochondrial complex III deficiency caused by mutation in UQCRQ|UQCRQ mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 4 UMLS:C3554607|OMIM:615159|Orphanet:1460|DOID:0080113 owl:Class MONDO:0015448 biolink:NamedThing mitochondrial complex III deficiency Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). tmpte7i6ely_mondo_relaxed.owl isolated mitochondrial respiratory chain complex III deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated complex III deficiency|isolated CoQ-cytochrome C reductase deficiency|isolated coenzyme Q-cytochrome C reductase deficiency OMIM:615453|OMIM:615158|OMIM:615159|ICD10:G71.3|Orphanet:1460|OMIM:124000|OMIM:615160|OMIM:615838|OMIM:615824|OMIM:615157|DOID:0111139|OMIM:616111 Editor note: check this; isolated in ORDO owl:Class GO:0046146 biolink:NamedThing tetrahydrobiopterin metabolic process The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine. tmpte7i6ely_mondo_relaxed.owl 5,6,7,8-tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism owl:Class GO:0034311 biolink:NamedThing diol metabolic process The chemical reactions and pathways involving a diol, a compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. tmpte7i6ely_mondo_relaxed.owl dihydric alcohol metabolic process|diol metabolism owl:Class CL:0002372 biolink:NamedThing myotube A transversely striated, synctial muscle cell, formed by the fusion of myoblasts. tmpte7i6ely_mondo_relaxed.owl myotubule|single cell sarcomere tmeehan 2010-09-24T01:13:01Z CL:0000369 cell owl:Class CL:0000228 biolink:NamedThing multinucleate cell A cell with more than one nucleus. tmpte7i6ely_mondo_relaxed.owl syncytium|syncytial cell|syncitium WBbt:0008074|AEO:0000203 cell owl:Class NCBITaxon:34486 biolink:NamedThing Ancylistaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4857 biolink:NamedThing Entomophthorales tmpte7i6ely_mondo_relaxed.owl PMID:17051209|PMID:17572334|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003910 biolink:NamedThing mixed cell uveal melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. tmpte7i6ely_mondo_relaxed.owl mixed cell uveal melanoma NCIT:C35781|UMLS:C1334782|EFO:1000380|DOID:6522 owl:Class MONDO:0006486 biolink:NamedThing uveal melanoma A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. tmpte7i6ely_mondo_relaxed.owl intraocular melanoma|melanoma, uveal, malignant|uvea melanoma|melanoma (disease) of uvea|choroidal melanoma|uveal melanoma|melanoma of uvea|iris melanoma|melanoma of the uvea|uvea melanoma (disease) NCIT:C7712|EFO:1000616|ONCOTREE:UM|OMIM:606660|ICD10:C69.3|OMIM:155720|OMIM:606661|GARD:0008621|Orphanet:39044|DOID:6039|MESH:C536494|UMLS:C0220633|UMLS:C0346388|MedDRA:10061252 owl:Class MONDO:0022872 biolink:NamedThing corpus callosum dysgenesis X-linked recessive tmpte7i6ely_mondo_relaxed.owl GARD:0001543 https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive owl:Class MONDO:0005560 biolink:NamedThing brain disorder A disease affecting the brain or part of the brain. tmpte7i6ely_mondo_relaxed.owl disease or disorder of brain|disorder of brain|encephalopathy|brain disease or disorder|disease of brain|brain disease MESH:D001927|ICD9:348.3|ICD9:348.9|ICD10:G93.40|ICD10:G93.9|UMLS:C0006111|SCTID:81308009|EFO:0005774|UMLS:C0085584|ICD9:348.30|NCIT:C96413|DOID:936|ICD9:348.8 Editor note: NCIT has different classes for brain disease and encephalopathy owl:Class MONDO:0018000 biolink:NamedThing hereditary thrombocytosis with transverse limb defect Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. tmpte7i6ely_mondo_relaxed.owl familial thrombocytosis with transverse limb defect|thrombocythemia with distal limb defects Orphanet:329319|UMLS:CN204208|ICD10:Q87.2 owl:Class MONDO:0021181 biolink:NamedThing inherited blood coagulation disorder Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. tmpte7i6ely_mondo_relaxed.owl coagulation disorders, inherited|hereditary blood coagulation disease|hereditary coagulation disorder|hereditary coagulation disorders|rare genetic coagulation disorder|hereditary blood coagulation disorders|inherited coagulation disorder|inherited coagulation disorders|coagulation disorders, hereditary|coagulation disorder, inherited|inherited blood coagulation disease|coagulation disorder, hereditary|inherited blood coagulation disorders MESH:D025861|UMLS:C0852077|DOID:2214|UMLS:CN226819|Orphanet:183654 owl:Class MONDO:0019414 biolink:NamedThing BRESEK syndrome X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). tmpte7i6ely_mondo_relaxed.owl BRESHECK syndrome OMIM:308205|MESH:C564519|UMLS:C3502469|SCTID:717945001|ICD10:Q87.8|Orphanet:85284 owl:Class MONDO:0003674 biolink:NamedThing subendocardial myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart. tmpte7i6ely_mondo_relaxed.owl myocardial infarction (disease) of subendocardium layer|subendocardium layer myocardial infarction (disease) NCIT:C35305|DOID:5849|UMLS:C0262568 owl:Class MONDO:0005068 biolink:NamedThing myocardial infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. tmpte7i6ely_mondo_relaxed.owl MI, myocardial infarction|myocardial infarct|MI|heart attack|myocardial infarction, (MI)|myocardial infarction (disease)|myocardial infarction|infarction (MI), myocardial myocardial infarction (disease) EFO:0000612|OMIM:608557|DOID:5844|NCIT:C27996|OMIM:608446|ICD10:I21|ICD10:I22|MESH:D009203|UMLS:C0027051|SCTID:22298006|HP:0001658 owl:Class GO:0098643 biolink:NamedThing banded collagen fibril A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098644 biolink:NamedThing complex of collagen trimers A complex of collagen trimers such as a fibril or collagen network. tmpte7i6ely_mondo_relaxed.owl Supramolecular collagen assembly|Supramolecular aggregate of collagen owl:Class MONDO:0005964 biolink:NamedThing sphenoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. tmpte7i6ely_mondo_relaxed.owl sinusitis of sphenoid bone|sphenoidal sinusitis|sphenoid bone sinusitis NCIT:C35031|DOID:10794|MESH:D015524|ICD10:J32.3|SCTID:13266007|UMLS:C0037886|EFO:0007489 owl:Class MONDO:0023369 biolink:NamedThing disorder of facial skeleton A disease that involves the facial skeleton. tmpte7i6ely_mondo_relaxed.owl facial skeleton disease or disorder|disorder of facial skeleton|facial skeleton disease|maxillofacial anomaly|disease of facial skeleton|disease or disorder of facial skeleton|maxillo-facial disease owl:Class MONDO:0008952 biolink:NamedThing cerebrofaciothoracic dysplasia Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. tmpte7i6ely_mondo_relaxed.owl craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|pascual-Castroviejo syndrome|pascual-Castroviejo syndrome type 1|CFSMR|cerebro facio thoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome|cerebrofaciothoracic dysplasia ICD10:Q87.5|SCTID:720635002|MESH:C565862|GARD:0001210|Orphanet:1394|OMIM:213980 https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia owl:Class GO:0106120 biolink:NamedThing positive regulation of sterol biosynthetic process Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0106118 biolink:NamedThing regulation of sterol biosynthetic process Any process that modulates the frequency, rate or extent of a sterol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010714 biolink:NamedThing Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. tmpte7i6ely_mondo_relaxed.owl HLD1|Pelizaeus-Merzbacher brain sclerosis|hypomyelinating leukodystrophy 1|leukodystrophy, hypomyelinating, 1|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher brain sclerosis|leukodystrophy, sudanophilic|PMD|diffuse familial brain sclerosis|Pelizaeus-Merzbacher disease|Pelizaeus Merzbacher disease MESH:D020371|SCTID:64855000|OMIM:213900|ICD10:E75.2|UMLS:C0205711|MedDRA:10067610|NCIT:C75487|OMIM:312080|DOID:3210|GARD:0004265|Orphanet:702 https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease owl:Class GO:0034650 biolink:NamedThing cortisol metabolic process The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. tmpte7i6ely_mondo_relaxed.owl cortisol metabolism owl:Class GO:0008211 biolink:NamedThing glucocorticoid metabolic process The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. tmpte7i6ely_mondo_relaxed.owl glucocorticoid metabolism|glucocorticosteroid metabolism|glucocorticosteroid metabolic process owl:Class UBERON:0005017 biolink:NamedThing mucosa of lacrimal sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005043 biolink:NamedThing mucosa of nasolacrimal duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007177 biolink:NamedThing auriculoosteodysplasia Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. tmpte7i6ely_mondo_relaxed.owl multiple osseous dysplasia, characteristic ear shape, and short stature|auriculo-osteodysplasia|auriculoosteodysplasia OMIM:109000|MESH:C538271|Orphanet:114|UMLS:C1862381|GARD:0008663|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia owl:Class MONDO:0002081 biolink:NamedThing musculoskeletal system disorder A disease involving the musculoskeletal system. tmpte7i6ely_mondo_relaxed.owl musculoskeletal disorder|musculoskeletal system disease|musculoskeletal system disease or disorder|musculoskeletal disease|disease of musculoskeletal system|disorder of musculoskeletal system|disease or disorder of musculoskeletal system|musculoskeletal system disorder DOID:17|ICD9:729.99|NCIT:C107377|MESH:D009140|SCTID:928000|UMLS:C0026857 owl:Class ENVO:01001614 biolink:NamedThing ice-bearing permafrost Permafrost which contains inclusions of water-based ice. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000134 biolink:NamedThing permafrost Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years. tmpte7i6ely_mondo_relaxed.owl Permafrost owl:Class UBERON:0001243 biolink:NamedThing serosa of intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004782 biolink:NamedThing gastrointestinal system serosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003509 biolink:NamedThing arterial blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017396 biolink:NamedThing toxic dermatosis tmpte7i6ely_mondo_relaxed.owl Orphanet:293815 owl:Class MONDO:0005093 biolink:NamedThing skin disorder Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. tmpte7i6ely_mondo_relaxed.owl skin disorder|disease or disorder of zone of skin|genodermatosis|disease of zone of skin|disorder of skin|dermatosis|skin and subcutaneous tissue disease|cutaneous disorder|zone of skin disease or disorder|zone of skin disease|skin diseases and manifestations|disorder of zone of skin NCIT:C3371|MESH:D012871|SCTID:95320005|MESH:D012873|ICD9:702.8|DOID:37|SCTID:239001006|EFO:0000701|ICD9:702|ICD9:709.8 owl:Class CL:0008002 biolink:NamedThing skeletal muscle fiber A transversely striated, synctial cell of skeletal muscle. It is formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000188 biolink:NamedThing cell of skeletal muscle A somatic cell located in skeletal muscle. tmpte7i6ely_mondo_relaxed.owl skeletal muscle cell BTO:0004392|FMA:9727|CALOHA:TS-2158 cell owl:Class MONDO:0014516 biolink:NamedThing microcephaly and chorioretinopathy 2 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene. tmpte7i6ely_mondo_relaxed.owl microcephaly and chorioretinopathy caused by mutation in PLK4|MCCRP2|microcephaly and chorioretinopathy, autosomal recessive, type 2|PLK4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy type 2|microcephaly and chorioretinopathy, autosomal recessive, 2 UMLS:C4015388|OMIM:616171|DOID:0080106|Orphanet:808 owl:Class HGNC:18466 biolink:NamedThing RNASEH1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030810 biolink:NamedThing Abnormal tongue physiology Any functional anomaly of the tongue. tmpte7i6ely_mondo_relaxed.owl UMLS:C4280754 human_phenotype owl:Class GO:0010891 biolink:NamedThing negative regulation of sequestering of triglyceride Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpte7i6ely_mondo_relaxed.owl negative regulation of sequestering of triacylglycerol|negative regulation of triglyceride sequestration owl:Class MONDO:0003591 biolink:NamedThing kidney liposarcoma A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. tmpte7i6ely_mondo_relaxed.owl liposarcoma of kidney|kidney liposarcoma|liposarcoma of the kidney|renal liposarcoma DOID:5699|NCIT:C6185|UMLS:C1335745 owl:Class MONDO:0002930 biolink:NamedThing kidney sarcoma A sarcoma involving a kidney. tmpte7i6ely_mondo_relaxed.owl kidney sarcoma|sarcoma of the kidney|sarcoma of kidney|renal sarcoma NCIT:C4525|ICD9:189.0|DOID:4242|SCTID:254918001|UMLS:C0346251 owl:Class MONDO:0009279 biolink:NamedThing triple-A syndrome Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. tmpte7i6ely_mondo_relaxed.owl achalasia-alacrima syndrome|achalasia-addisonianism-alacrimia syndrome|Allgrove syndrome|2A syndrome|Addisonian achalasia syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|achalasia alacrima syndrome|achalasia addisonianism alacrimia syndrome|Addisonian-achalasia syndrome|quaternary A syndrome|alacrima-achalasia-addisonianism|glucocorticoid deficiency and achalasia|AAA|triple-a syndrome|AAAS|hypoadrenalism with achalasia|AAA syndrome|triple A syndrome|4A syndrome|adrenal insufficiency-achalasia-alacrima syndrome|Double A syndrome|3A syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|achalasia-addisonianism-alacrima syndrome NCIT:C131005|OMIM:615510|OMIM:231550|Orphanet:869|GARD:0000457|DOID:0050602|MESH:C536008|ICD9:255.41|ICD10:E27.4|EFO:1001997|SCTID:45414006 https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome owl:Class MONDO:0015208 biolink:NamedThing syndromic esophageal malformation A esophageal malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic esophageal malformation|syndrome associated with esophageal malformation Orphanet:108961|UMLS:CN226625 owl:Class CHEBI:60531 biolink:NamedThing flavin(1-) Flavin protonated to pH 7.3 tmpte7i6ely_mondo_relaxed.owl an oxidized flavin owl:Class CHEBI:25696 biolink:NamedThing organic anion Any organic ion with a net negative charge. tmpte7i6ely_mondo_relaxed.owl organic anions owl:Class MONDO:0043373 biolink:NamedThing sudden sensorineural hearing loss Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. tmpte7i6ely_mondo_relaxed.owl sudden sensorineural hearing loss|deafness, sudden|sudden deafness|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma|sudden hearing loss MESH:D003639|SCTID:715239002|Orphanet:90059|GARD:0012927|UMLS:C4275242 owl:Class MONDO:0020677 biolink:NamedThing sudden hearing loss disorder tmpte7i6ely_mondo_relaxed.owl SCTID:79471008 owl:Class MONDO:0004587 biolink:NamedThing hereditary night blindness An instance of night blindness that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl Oguchi's disease|congenital night blindness|hereditary night blindness DOID:8498|SCTID:193687000|ICD10:H53.63|ICD9:368.61 owl:Class MONDO:0008818 biolink:NamedThing arterial tortuosity syndrome Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. tmpte7i6ely_mondo_relaxed.owl ATS|arterial tortuosity|arterial tortuosity syndrome SCTID:458432002|Orphanet:3342|ICD10:Q87.82|DOID:0050645|OMIM:208050|MESH:C565942|UMLS:C1859726|ICD10:I77.1|GARD:0000774 owl:Class MONDO:0023603 biolink:NamedThing hereditary disorder of connective tissue An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. tmpte7i6ely_mondo_relaxed.owl Mendelian connective tissue disorder|connective tissue hereditary disorder|Inherited disorder of connective tissue|inherited disorder of connective tissue|hereditary connective tissue disorder|Hereditary Connective Tissue Disorder SCTID:363045008|UMLS:C0410787|NCIT:C97075 https://github.com/monarch-initiative/mondo/issues/3606 owl:Class ENVO:00002008 biolink:NamedThing dust Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000814 biolink:NamedThing solid environmental material An environmental material which is in a solid state. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008429 biolink:NamedThing Singleton-Merten dysplasia Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). tmpte7i6ely_mondo_relaxed.owl widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|SGMRT1|SM syndrome|Singleton-Merten syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|singleton Merten syndrome|Merten-Singleton syndrome SCTID:254114000|ICD10:Q78.8|GARD:0000122|MESH:C537343|ICD9:733.29|OMIM:616298|UMLS:C0432254|Orphanet:85191|OMIM:182250|OMIMPS:182250 owl:Class MONDO:0018782 biolink:NamedThing type 1 interferonopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:477647 owl:Class MONDO:0003026 biolink:NamedThing gallbladder angiosarcoma An angiosarcoma that is located in the gallbladder. tmpte7i6ely_mondo_relaxed.owl gallbladder hemangiosarcoma|angiosarcoma of the gallbladder|gall bladder angiosarcoma (disease)|hemangiosarcoma of the gallbladder|angiosarcoma of gallbladder|gallbladder angiosarcoma|hemangiosarcoma of gallbladder|angiosarcoma (disease) of gall bladder DOID:4513|NCIT:C5840|UMLS:C1333742 owl:Class MONDO:0002857 biolink:NamedThing gallbladder sarcoma A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. tmpte7i6ely_mondo_relaxed.owl gall bladder sarcoma|malignant mesenchymal tumor of gallbladder|sarcoma of gallbladder|sarcoma of the gallbladder|sarcoma of gall bladder|gallbladder sarcoma UMLS:C1333757|DOID:4058|NCIT:C5736 owl:Class IAO:8000004 biolink:NamedThing bridge ontology module An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module. tmpte7i6ely_mondo_relaxed.owl bridge ontology module owl:Class IAO:8000000 biolink:NamedThing ontology module tmpte7i6ely_mondo_relaxed.owl ontology file This class and it's subclasses are applied to OWL ontologies. Using an rdf:type triple will result in problems with OWL-DL. I propose that dcterms:type is instead used to connect an ontology URI with a class from this hierarchy. The class hierarchy is not disjoint, so multiple assertions can be made about a single ontology. I have placed this under 'data about an ontology part', but this can be discussed. I think this is OK if 'part' is interpreted reflexively, as an ontology module is the whole ontology rather than part of it. ontology module owl:Class MONDO:0018233 biolink:NamedThing otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. tmpte7i6ely_mondo_relaxed.owl OPSD|OPD spectrum disorder UMLS:C2748918|DOID:0111782|Orphanet:364541 owl:Class MONDO:0018230 biolink:NamedThing primary bone dysplasia tmpte7i6ely_mondo_relaxed.owl primary osteodysplasia|primary skeletal dysplasia Orphanet:364526 Editor note: ORDO has these as genetic, but some forms may not be genetic - check this owl:Class HGNC:18179 biolink:NamedThing VPS33A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017837 biolink:NamedThing multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl ICD10:G37.8|UMLS:CN203814|Orphanet:3151 owl:Class MONDO:0002900 biolink:NamedThing cerebral neuroblastoma A neuroblastoma arising from the cerebral hemispheres. tmpte7i6ely_mondo_relaxed.owl cerebral neuroblastoma, PNET|neuroblastoma of telencephalon|neuroblastoma of brain|telencephalon neuroblastoma|neuroblastoma of the cerebral hemispheres|neuroblastoma of the cerebral hemisphere|neuroblastoma of the cerebrum|neuroblastoma of cerebrum|neuroblastoma of cerebral hemispheres|cerebral hemispheric neuroblastoma|cerebral neuroblastoma|central nervous system neuroblastoma NCIT:C4826|SCTID:281560004|DOID:4164|UMLS:C0559458 owl:Class MONDO:0003142 biolink:NamedThing intracranial primitive neuroectodermal tumor A primitive neuroectodermal tumor that involves the brain. tmpte7i6ely_mondo_relaxed.owl brain primitive neuroectodermal tumor|intracranial primitive neuroectodermal neoplasm|intracranial PNET|intracranial primitive neuroectodermal tumor|primitive neuroectodermal tumor of brain UMLS:C1334246|DOID:4788|NCIT:C5817 owl:Class MONDO:0024315 biolink:NamedThing parasitic endophthalmitis Infection of the epicondyles by a parasite. tmpte7i6ely_mondo_relaxed.owl parasitic endophthalmitis NCIT:C34587|ICD9:360.13|UMLS:C0014238|SCTID:57100005 owl:Class MONDO:0016047 biolink:NamedThing endophthalmitis An infectious process affecting the internal structures of the eye. tmpte7i6ely_mondo_relaxed.owl Orphanet:199323|DOID:4692|SCTID:1847009|NCIT:C34586|ICD9:360.19|ICD10:H44.1|MedDRA:10014801|UMLS:C0014236|MESH:D009877|ICD10:H44.0 owl:Class MONDO:0005448 biolink:NamedThing hepatitis C induced liver cirrhosis Liver injury resulting from hepatitis C infection. tmpte7i6ely_mondo_relaxed.owl EFO:0005129 owl:Class MONDO:0021674 biolink:NamedThing post-viral disorder A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations. tmpte7i6ely_mondo_relaxed.owl sequela of viral disease ICD9:139.8|SCTID:123948009 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class UBERON:0001622 biolink:NamedThing lacrimal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003496 biolink:NamedThing head blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019042 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome tmpte7i6ely_mondo_relaxed.owl MCAHS Orphanet:68341 owl:Class MONDO:0019755 biolink:NamedThing developmental defect during embryogenesis A disease that has its basis in the disruption of embryonic morphogenesis. tmpte7i6ely_mondo_relaxed.owl rare developmental defect during embryogenesis|embryonic morphogenesis disease|disorder of embryonic morphogenesis|malformation syndrome|congenital malformation syndrome|developmental defect during embryogenesis ICD9:759.7|UMLS:CN206687|NCIT:C99267|SCTID:400038003|UMLS:C1302790|Orphanet:93890 owl:Class MONDO:0016593 biolink:NamedThing acquired ataxia A type of ataxia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired ataxia Orphanet:247242|SCTID:722968003 owl:Class MONDO:0100308 biolink:NamedThing atactic disorder A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. tmpte7i6ely_mondo_relaxed.owl ataxic disorder|ataxia http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018536 biolink:NamedThing adenocarcinoma of gallbladder and extrahepatic biliary tract Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract|adenocarcinoma of the gallbladder and EBT SCTID:765741003|ICD10:C24.1|UMLS:CN237537|ICD10:C23|ICD10:C28.9|Orphanet:424991|ICD10:C24.8|ICD10:C24.0 owl:Class MONDO:0002665 biolink:NamedThing extrahepatic bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct adenocarcinoma|adenocarcinoma of extrahepatic bile duct|adenocarcinoma of the extrahepatic bile duct UMLS:C0279659|NCIT:C7975|DOID:3495 owl:Class UBERON:0011088 biolink:NamedThing ligament of knee joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008846 biolink:NamedThing skeletal ligament tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000839 biolink:NamedThing kidney proximal straight tubule epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001046 cell owl:Class CL:1000615 biolink:NamedThing kidney cortex tubule cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001024 cell owl:Class MONDO:0008237 biolink:NamedThing phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. tmpte7i6ely_mondo_relaxed.owl phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-Lévy-Francfort syndrome|facioauriculoradial dysplasia|Stoll-levy-Francfort syndrome|Stoll-LC)vy-Francfort syndrome OMIM:171480|GARD:0004323|MESH:C537498|ICD10:Q87.2|UMLS:C1868390|Orphanet:2878 owl:Class GO:2000035 biolink:NamedThing regulation of stem cell division Any process that modulates the frequency, rate or extent of stem cell division. tmpte7i6ely_mondo_relaxed.owl regulation of stem cell renewal owl:Class GO:0051302 biolink:NamedThing regulation of cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30546 biolink:NamedThing FDX2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0005009 biolink:NamedThing renal principal cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the cells apical membrane is regulated by aldosterone and vasopressin. In mammals these cells are located in the renal collecting ducts. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002518 biolink:NamedThing kidney epithelial cell An epithelial cell of the kidney. tmpte7i6ely_mondo_relaxed.owl KUPO:0001019 tmeehan 2011-02-08T10:46:34Z cell owl:Class MONDO:0008741 biolink:NamedThing PAGOD syndrome PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. tmpte7i6ely_mondo_relaxed.owl pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome|agonadism with multiple internal malformations|Kennerknecht sorgo Oberhoffer syndrome|PAGOD syndrome UMLS:C1859967|Orphanet:991|MESH:C537018|SCTID:722132007|GARD:0003086|ICD10:Q87.8|OMIM:202660 owl:Class MONDO:0020040 biolink:NamedThing 46,XY disorder of sex development Differences of sex development in individuals with 46,XY karyotype. tmpte7i6ely_mondo_relaxed.owl 46,XY DSD|46,XY disorders of Sex development|46, XY disorders of sexual development|46, XY female|46,XY differences of Sex development|XY female|46, XY DSD UMLS:C2751824|SCTID:8234004|NCIT:C127171|Orphanet:98085|GARD:0008538|MESH:D058490 owl:Class MONDO:0018976 biolink:NamedThing schisis association The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. tmpte7i6ely_mondo_relaxed.owl Midline development field defects ICD10:Q87.8|SCTID:718095000|MESH:C536633|UMLS:C2931271|Orphanet:63862|GARD:0000246 https://rarediseases.info.nih.gov/diseases/246/schisis-association owl:Class MONDO:0015736 biolink:NamedThing intermediate nemaline myopathy Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression. tmpte7i6ely_mondo_relaxed.owl Intermediate congenital NM|Intermediate congenital nemaline myopathy OMIM:615731|OMIM:609284|OMIM:161800|OMIM:256030|GARD:0012823|ICD10:G71.2|Orphanet:171433 owl:Class MONDO:0017303 biolink:NamedThing qualitative or quantitative defects of tropomyosin tmpte7i6ely_mondo_relaxed.owl Orphanet:284790 owl:Class MONDO:0009576 biolink:NamedThing megalocornea tmpte7i6ely_mondo_relaxed.owl megalocornea (disease)|megalocornea|anterior megalophthalmos megalocornea (disease) OMIM:309300|HP:0007660|HP:0000485|DOID:0060305|MESH:C562829|SCTID:268158009|Orphanet:91489|OMIM:249300 owl:Class MONDO:0016722 biolink:NamedThing pineoblastoma Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis. tmpte7i6ely_mondo_relaxed.owl pineal gland primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the pineal gland|pineal primitive neuroectodermal neoplasm|pineal gland primitive neuroectodermal tumor|pineoblastoma (WHO grade IV)|primitive neuroectodermal neoplasm of pineal gland|pineoblastoma|primitive neuroectodermal tumor of pineal gland|PNET of the pineal gland|pineal gland PNET|pineal primitive neuroectodermal tumor|pineoblastoma, malignant|primitive neuroectodermal tumor of the pineal gland|pineal PNET|PNET of pineal gland DOID:1664|ONCOTREE:PBL|GARD:0009369|MedDRA:10050487|UMLS:C0205898|ICDO:9362/3|ICD10:C75.3|EFO:1000475|Orphanet:251909|NCIT:C9344 https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma owl:Class MONDO:0003249 biolink:NamedThing pineal gland cancer Abnormal malignant growth of the cells that comprise the pineal parenchyma. tmpte7i6ely_mondo_relaxed.owl malignant pineal area neoplasm|malignant pineal region neoplasm|malignant tumor of pineal gland|pinealoma|malignant pineal body neoplasm|malignant neoplasm of the pineal gland|malignant tumor of the pineal gland|malignant pineal area tumor|malignant neoplasm of pineal gland|malignant pineal region tumor|malignant pineal gland tumor|cancer of pineal body|malignant neoplasm of pineal body|malignant pineal gland neoplasm|pineocytic tumor|pineal body cancer|tumor of the pineal region|neoplasm of the pineal region NCIT:C3328|DOID:5032|NCIT:C6965|ICD9:194.4|UMLS:C0031941|NCIT:C3573|ICD10:C75.3|SCTID:363483004 owl:Class HGNC:8101 biolink:NamedThing OCA2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006646 biolink:NamedThing muscle layer of epididymis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042701 biolink:NamedThing progesterone secretion The regulated release of progesterone, a steroid hormone, by the corpus luteum of the ovary and by the placenta. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022412 biolink:NamedThing cellular process involved in reproduction in multicellular organism A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. tmpte7i6ely_mondo_relaxed.owl reproductive cellular process in multicellular organism owl:Class MONDO:0011070 biolink:NamedThing van Maldergem syndrome 1 Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene. tmpte7i6ely_mondo_relaxed.owl VAN Maldergem syndrome 1|DCHS1 van Maldergem syndrome|van Maldergem syndrome caused by mutation in DCHS1|VMLDS1|van Maldergem syndrome 1|Cerebrofacioarticular syndrome|Van Maldergem syndrome type 1 OMIM:601390|DOID:0080585|Orphanet:314679 owl:Class MONDO:0017813 biolink:NamedThing van Maldergem syndrome Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. tmpte7i6ely_mondo_relaxed.owl cerebro-facio-articular syndrome|Van Maldergem Wetzburger Verloes syndrome|cerebro-facio-articular syndrome of Van Maldergem|Van Maldergem syndrome OMIMPS:601390|DOID:0060238|GARD:0005456|OMIM:601390|OMIM:615546|UMLS:CN203783|Orphanet:314679 owl:Class MONDO:0015674 biolink:NamedThing late infantile neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. tmpte7i6ely_mondo_relaxed.owl late infantile neuronal ceroid lipofuscinosis|amaurotic idiocy early juvenile type|amaurotic idiocy, late infantile type|dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|Bielschowsky-jansky disease|LINCL|late infantile NCL|amaurotic idiocy, early juvenile type|dollinger-Bielschowsky syndrome|Bielschowsky-jansky type neuronal ceroid lipofuscinosis|late-infantile neuronal ceroid lipofuscinosis|Jansky-Bielschowsky disease|amaurotic idiocy late infantile type SCTID:14637005|OMIM:256731|ICD10:E75.4|OMIM:600143|OMIM:610127|Orphanet:168491|OMIM:610951|OMIM:204500|OMIM:256730|OMIM:601780 owl:Class HP:0002071 biolink:NamedThing Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). tmpte7i6ely_mondo_relaxed.owl Extrapyramidal signs|Extrapyramidal syndrome|Extrapyramidal tract signs|Extrapyramidal symptoms|Extrapyramidal dysfunction SNOMEDCT_US:76349003|SNOMEDCT_US:43378000|MSH:D001480|UMLS:C0015371|UMLS:C0234133 The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. HP:0006810|HP:0007113 human_phenotype owl:Class HP:0011442 biolink:NamedThing Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. tmpte7i6ely_mondo_relaxed.owl Abnormality of central motor function UMLS:C4023354 peter 2012-03-18T02:29:04Z human_phenotype owl:Class UBERON:0009970 biolink:NamedThing epithelium of pancreatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000483 biolink:NamedThing epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009798 biolink:NamedThing intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl primrose syndrome|PRIMS|ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes GARD:0004488|OMIM:259050|SCTID:726709001|UMLS:C0796121|Orphanet:3042|MESH:C536420|ICD10:Q87.8 owl:Class HGNC:7865 biolink:NamedThing NODAL tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:4000031 biolink:NamedThing exposure to increased water temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water. tmpte7i6ely_mondo_relaxed.owl exposure to increased amount in temperature of water owl:Class ECTO:4000000 biolink:NamedThing exposure to change A exposure event involving the interaction of an exposure receptor to deviation (from_normal) of quality. tmpte7i6ely_mondo_relaxed.owl exposure to deviation (from_normal) in quality owl:Class MONDO:0010831 biolink:NamedThing familial caudal dysgenesis Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. tmpte7i6ely_mondo_relaxed.owl sacral defect with anterior meningocele|caudal dysgenesis familial type|caudal regression|Rudd-Klimek syndrome|sirenomelia|sacral agenesis|SDAM|caudal regression syndrome|familial caudal dysgenesis|caudal dysgenesis syndrome|Sdam ICD10:Q87.8|Orphanet:3027|UMLS:C0037205|SCTID:722493007|UMLS:C1838568|Orphanet:1768|NCIT:C99054|Orphanet:3169|OMIM:600145|GARD:0000215|GARD:0004751 owl:Class MONDO:0005915 biolink:NamedThing pityriasis versicolor A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. tmpte7i6ely_mondo_relaxed.owl infections, Malassezia furfur|Malassezia furfur infection|tinea versicolor|infection by Pityrosporum furfur|tinea flava ICD10:B36.0|ICD9:111.0|NCIT:C82981|SCTID:56454009|MESH:D014010|DOID:9060|UMLS:C0040262|EFO:0007439 owl:Class MONDO:0024268 biolink:NamedThing superficial mycosis A mycosis that is limited to the stratum corneum and essentially elicits no inflammation. tmpte7i6ely_mondo_relaxed.owl steroid-modified tinea infection|stratum corneum of epidermis fungal infectious disease|piedra MESH:D010854|ICD10:B36.9|SCTID:276206000|UMLS:C0031898|SCTID:402135006|DOID:0050133|ICD9:117.9|UMLS:C2980104 owl:Class UBERON:0003552 biolink:NamedThing telencephalon pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003550 biolink:NamedThing forebrain pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8778 biolink:NamedThing PDE3A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097712 biolink:NamedThing vesicle targeting, trans-Golgi to periciliary membrane compartment The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048199 biolink:NamedThing vesicle targeting, to, from or within Golgi The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. tmpte7i6ely_mondo_relaxed.owl Golgi vesicle targeting|dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome owl:Class GO:1902622 biolink:NamedThing regulation of neutrophil migration Any process that modulates the frequency, rate or extent of neutrophil migration. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3497 biolink:NamedThing EVC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005033 biolink:NamedThing ganglioneuroma A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray. tmpte7i6ely_mondo_relaxed.owl ganglioneuroma, benign|GN|ganglioneuroma|neural Crest tumor, benign|ganglioneuroma (disease)|ganglioneuroma (Schwannian Stroma-dominant) ganglioneuroma (disease) NCIT:C3049|HP:0003005|ICD9:215.9|DOID:4817|UMLS:C0017075|MESH:D005729|Orphanet:251992|ICDO:9490/0|MedDRA:10017709|ONCOTREE:GN|ICD10:D36.1|EFO:0000500|SCTID:116371000119107|NIFSTD:birnlex_12617 owl:Class MONDO:0006316 biolink:NamedThing neuroblastic tumor A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells. tmpte7i6ely_mondo_relaxed.owl neuroblastic tumor UMLS:C1334953|NCIT:C6963|EFO:1000393 owl:Class UBERON:0035128 biolink:NamedThing manus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015064 biolink:NamedThing autopod cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905276 biolink:NamedThing regulation of epithelial tube formation Any process that modulates the frequency, rate or extent of epithelial tube formation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000026 biolink:NamedThing regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of multicellular organismal development. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016881 biolink:NamedThing acid-amino acid ligase activity Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpte7i6ely_mondo_relaxed.owl peptide synthase activity owl:Class GO:0016879 biolink:NamedThing ligase activity, forming carbon-nitrogen bonds Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpte7i6ely_mondo_relaxed.owl other carbon-nitrogen ligase activity owl:Class GO:0045892 biolink:NamedThing negative regulation of transcription, DNA-templated Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. tmpte7i6ely_mondo_relaxed.owl downregulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|transcription repressor activity|down-regulation of gene-specific transcription|inhibition of gene-specific transcription|negative regulation of gene-specific transcription|down-regulation of transcription, DNA-dependent|down regulation of gene-specific transcription|down regulation of transcription, DNA-dependent|inhibition of transcription, DNA-dependent|downregulation of gene-specific transcription|negative regulation of cellular transcription, DNA-dependent owl:Class GO:2000113 biolink:NamedThing negative regulation of cellular macromolecule biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular biopolymer biosynthetic process|negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular macromolecule formation|negative regulation of cellular macromolecule anabolism|negative regulation of cellular macromolecule synthesis owl:Class MONDO:0004996 biolink:NamedThing childhood acute myeloid leukemia Acute myeloid leukemia occurring in childhood. tmpte7i6ely_mondo_relaxed.owl childhood AML|pediatric acute myelogenous leukemia|childhood acute myelocytic leukemia|childhood acute granulocytic leukemia|childhood acute myelogenous leukemia|childhood acute myeloid leukemia|pediatric AML|pediatric acute myeloblastic leukemia|acute myeloid leukemia of childhood|childhood acute myeloid leukaemia|paediatric acute myeloid leukaemia|acute myeloid leukemia (AML)|childhood acute myeloblastic leukemia|pediatric acute myelocytic leukemia|pediatric acute myeloid leukemia UMLS:C0220621|ICDO:M9861/3|NCIT:C9160|DOID:0070323|EFO:0000330 owl:Class MONDO:0013097 biolink:NamedThing glioma susceptibility 8 tmpte7i6ely_mondo_relaxed.owl GLM8|glioma susceptibility 8 OMIM:613033|UMLS:C2751637|Orphanet:182067 owl:Class MONDO:0100242 biolink:NamedThing glioma susceptibility An inherited susceptibility or predisposition to developing glioma. tmpte7i6ely_mondo_relaxed.owl glioma, susceptibility|glioma, susceptibility to OMIM:613033|OMIM:613029|OMIMPS:137800|OMIM:613031|OMIM:613028|OMIM:137800|OMIM:607248|OMIM:613032|OMIM:613030 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018751 biolink:NamedThing genetic otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic otorhinolaryngologic disease UMLS:CN242186|Orphanet:466084 owl:Class MONDO:0008221 biolink:NamedThing prolidase deficiency Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. tmpte7i6ely_mondo_relaxed.owl Imidodipeptidase deficiency|prolidase deficiency|Peptidase deficiency|hyperimidodipeptiduria NCIT:C85029|DOID:0111540|MESH:D056732|OMIM:170100|Orphanet:742|SCTID:410055005|UMLS:C0268532|ICD10:E72.8|GARD:0007473 owl:Class MONDO:0019313 biolink:NamedThing lymphatic malformation Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. tmpte7i6ely_mondo_relaxed.owl hereditary lymphedema|lymphedema, hereditary OMIM:615907|Orphanet:79452|ICD10:Q82.0|OMIM:247440|OMIM:153100|SCTID:254199006|DOID:0050580|GARD:0007220|OMIM:613480|ICD9:757.0|SCTID:399889006|OMIMPS:153100|OMIM:611944|OMIM:153200 owl:Class MONDO:0021962 biolink:NamedThing baetz-greenwalt syndrome tmpte7i6ely_mondo_relaxed.owl hypoplastic right-sided heart complex UMLS:C2931615|GARD:0009216|MESH:C537795 https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome owl:Class UBERON:0000962 biolink:NamedThing nerve of cervical vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001780 biolink:NamedThing spinal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17513 biolink:NamedThing HOMER2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045672 biolink:NamedThing positive regulation of osteoclast differentiation Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of osteoclast differentiation|up-regulation of osteoclast differentiation|upregulation of osteoclast differentiation|stimulation of osteoclast differentiation|activation of osteoclast differentiation owl:Class GO:0002763 biolink:NamedThing positive regulation of myeloid leukocyte differentiation Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of myeloid leukocyte differentiation|activation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation owl:Class GO:0006878 biolink:NamedThing cellular copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. tmpte7i6ely_mondo_relaxed.owl copper homeostasis owl:Class GO:0055070 biolink:NamedThing copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl copper homeostasis owl:Class HGNC:11448 biolink:NamedThing SUCLA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019438 biolink:NamedThing AL amyloidosis AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. tmpte7i6ely_mondo_relaxed.owl Light chain amyloidosis|primary amyloidosis|Light-chain amyloidosis|primary systemic amyloidosis|primary systemic AL amyloidosis|systemic AL amyloidsis|primary AL amyloidosis|primary amyloidosis (formerly)|amyloidosis primary systemic|amyloidosis AL MedDRA:10036673|GARD:0005797|OMIM:254500|ICD10:E85.9|MESH:C531616|UMLS:C0268381|Orphanet:85443 owl:Class MONDO:0006504 biolink:NamedThing acquired metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired metabolic disease EFO:1000639|DOID:0060158 owl:Class MONDO:0007603 biolink:NamedThing Felty syndrome Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. tmpte7i6ely_mondo_relaxed.owl Felty syndrome|familial Felty's syndrome|splenomegaly-neutropenia-rheumatoid arthritis syndrome|rheumatoid arthritis, splenomegaly and neutropenia|Felty's syndrome|rheumatoid arthritis with splenoadenomegaly and leukopenia SCTID:57160007|NCIT:C84712|ICD10:M05.0|DOID:11042|Orphanet:47612|UMLS:C0015773|MedDRA:10016386|MESH:D005258|OMIM:134750|ICD9:714.1|ICD10:M05.00|EFO:0007269|GARD:0008234 https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome owl:Class MONDO:0008383 biolink:NamedThing rheumatoid arthritis A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. tmpte7i6ely_mondo_relaxed.owl rheumatoid arthritis, susceptibility to|arthritis or polyarthritis, rheumatic|RA|arthritis, rheumatoid|atrophic arthritis|rheumatoid arthritis|autoimmune arthritis DOID:7148|KEGG:05323|UMLS:C0003873|Orphanet:284130|ICD9:714.0|ICD10:M06.9|MESH:D001172|SCTID:69896004|OMIM:180300|OMIM:604302|EFO:0000685|NCIT:C2884 owl:Class NCIT:C147564 biolink:NamedThing Hormone Resistance tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C36285 biolink:NamedThing Endocrine System Finding tmpte7i6ely_mondo_relaxed.owl Endocrine System Finding owl:Class MONDO:0013820 biolink:NamedThing intellectual disability, autosomal dominant 15 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene. tmpte7i6ely_mondo_relaxed.owl CSS3|autosomal dominant mental retardation 15|mental retardation, autosomal dominant 15|intellectual disability, autosomal dominant 15|SMARCB1 Coffin-Siris syndrome|MRD15|intellectual disability, autosomal dominant type 15|mental retardation, autosomal dominant type 15|autosomal dominant intellectual disability 15|SMARCB1-related BAFopathy|Coffin-Siris syndrome caused by mutation in SMARCB1|COFFIN-SIRIS syndrome 3 UMLS:C3553248|Orphanet:1465|OMIM:614608|DOID:0070045 owl:Class MONDO:0100172 biolink:NamedThing intellectual disability, autosomal dominant tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant|autosomal dominant intellectual disability OMIM:613970|OMIM:612621|OMIM:614256|OMIMPS:156200|OMIM:615828|OMIM:616579|OMIM:612581|OMIM:612580|OMIM:614257|OMIM:614255|OMIM:614113|OMIM:156200|OMIM:614563|OMIM:616521|OMIM:616393|OMIM:614254 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0040673 biolink:NamedThing malignant peritoneal germ cell tumor A malignant germ cell tumor that affects the peritoneum. tmpte7i6ely_mondo_relaxed.owl malignant peritoneal germ cell tumor NCIT:C136410|UMLS:C4526657 owl:Class MONDO:0002087 biolink:NamedThing peritoneum cancer A malignant neoplasm involving the peritoneum tmpte7i6ely_mondo_relaxed.owl cancer of the peritoneum|malignant peritoneal neoplasm|cancer of peritoneum|peritoneum cancer|peritoneal neoplasm|malignant neoplasm of peritoneum|malignant peritoneum neoplasm|peritoneal cancer|peritoneal cavity cancer SCTID:363492001|ICD9:158.8|NCIT:C3538|ICD10:C48.1|ICD9:158.9|DOID:1725|UMLS:C0153467|ICD9:159.8 owl:Class MONDO:0060724 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 17 tmpte7i6ely_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 17|GPIBD17 OMIM:618010|UMLS:CN248527 owl:Class MONDO:0015286 biolink:NamedThing congenital disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation|CDG|carbohydrate deficient glycoprotein syndrome|carbohydrate-deficient glycoprotein syndrome|congenital disorders of glycosylation|carbohydrate-deficient glycoprotein syndromes DOID:5212|NCIT:C84615|Orphanet:137|SCTID:238049009|ICD9:271.8|ICD10:E77.8|GARD:0010307|UMLS:C0282577|MESH:D018981 owl:Class FOODON:00001094 biolink:NamedThing fermented beverage tmpte7i6ely_mondo_relaxed.owl alcoholic beverage 2019-06-11 07:25:19+00:00 SUBSET_SIREN:F5644 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) * formed as a result of 'microbial/enzymatic modification process' (http://purl.obolibrary.org/obo/FOODON_03460119) * formed as a result of 'curing or aging process' (http://purl.obolibrary.org/obo/FOODON_03460253) http://langual.org subset_siren Damion Dooley owl:Class FOODON:03301977 biolink:NamedThing beverage food product A liquid prepared for consumption, or a product that can be combined with water or milk to make one. tmpte7i6ely_mondo_relaxed.owl 2019-09-12 00:00:00 http://langual.org Damion Dooley owl:Class ENVO:03000036 biolink:NamedThing sedimentation in a water body A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000009 biolink:NamedThing material accumulation process A process during which the mass of one or more materials, present within a given site, increases. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001198 biolink:NamedThing regulation of dendritic cell differentiation Any process that modulates the frequency, rate or extent of dendritic cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013159 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|muscular dystrophy, congenital, Pomt1-related|congenital muscular dystrophy-POMT1 related UMLS:C3150415|OMIM:613155|Orphanet:370959|Orphanet:370968 owl:Class MONDO:0700070 biolink:NamedThing myopathy caused by variation in POMT1 Any myopathy in which the cause of the disease is a variation in the POMT1 gene. tmpte7i6ely_mondo_relaxed.owl myopathy caused by mutation in POMT1|POMT1-related myopathy|POMT1 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class GO:1903430 biolink:NamedThing negative regulation of cell maturation Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation. tmpte7i6ely_mondo_relaxed.owl down regulation of cell maturation|down-regulation of functional differentiation|downregulation of functional differentiation|downregulation of cell maturation|inhibition of cell maturation|down-regulation of cell maturation|negative regulation of functional differentiation|inhibition of functional differentiation|down regulation of functional differentiation owl:Class GO:0010721 biolink:NamedThing negative regulation of cell development Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014270 biolink:NamedThing STT3A-CDG STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type 1w|CDG-Iw|CDG1W|congenital disorder of glycosylation type Iw|congenital disorder of glycosylation, type Iw|CDG Iw|STT3A-CDG|CDG syndrome type Iw Orphanet:370921|OMIM:615596|SCTID:733111000|DOID:0080572|ICD10:E77.8|UMLS:C3810062 owl:Class NCBITaxon:36086 biolink:NamedThing Trichuris tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:119093 biolink:NamedThing Trichuridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020589 biolink:NamedThing cardiac germ cell tumor A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors. tmpte7i6ely_mondo_relaxed.owl cardiac germ cell tumor|heart germ cell tumor NCIT:C147005 owl:Class MONDO:0018201 biolink:NamedThing extragonadal germ cell tumor A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). tmpte7i6ely_mondo_relaxed.owl extragonadal germ cell tumor|neoplasm of the extragonadal germ cell|extragonadal germ cell neoplasm|tumor of extragonadal germ cell|extragonadal germ cell neoplasms|neoplasm of extragonadal germ cell|tumor of the extragonadal germ cell|primary extragonadal germ cell tumor UMLS:C0262963|Orphanet:363579|UMLS:CN204711|GARD:0009325|NCIT:C3918 owl:Class UBERON:0001351 biolink:NamedThing lacrimal sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034944 biolink:NamedThing zone of organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022567 biolink:NamedThing bhaskar jagannathan syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:C2930901|MESH:C535437 owl:Class MONDO:0020225 biolink:NamedThing syndromic cataract A cataract (disease) that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with cataract (disease)|syndromic cataract (disease) UMLS:CN227829|Orphanet:98641 owl:Class MONDO:0019514 biolink:NamedThing hepatic veno-occlusive disease Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. tmpte7i6ely_mondo_relaxed.owl liver veno-occlusive disease|hepatic Vod|veno-occlusive disease|sinusoidal obstruction syndrome ICD9:453.89|NCIT:C26793|DOID:0080177|GARD:0013004|UMLS:C0019156|SCTID:65617004|ICD10:K76.5|MESH:D006504|MedDRA:10047216|Orphanet:890 https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease owl:Class MONDO:0002405 biolink:NamedThing hepatic vascular disorder A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. tmpte7i6ely_mondo_relaxed.owl hepatic vascular disorder|vascular disorder of liver|liver vascular disorder SCTID:235878005|NCIT:C35442|UMLS:C0400923|DOID:272|ICD9:573.8 owl:Class MONDO:0011201 biolink:NamedThing tremor, hereditary essential, 2 tmpte7i6ely_mondo_relaxed.owl tremor hereditary essential, 2|tremor, hereditary essential, 2|ETM2 OMIM:602134|MESH:C536546|DOID:0111429|GARD:0009500 owl:Class MONDO:0003233 biolink:NamedThing essential tremor A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) tmpte7i6ely_mondo_relaxed.owl essential hereditary tremor|benign essential tremor|tremor, hereditary essential|shaky hand syndrome ICD9:333.1|OMIM:190300|ICD10:G25.0|UMLS:C0270736|SCTID:609558009|OMIM:614782|DOID:4990|OMIM:602134|MESH:D020329|Orphanet:862|OMIMPS:190300|OMIM:611456|EFO:0003108 owl:Class UBERON:0003894 biolink:NamedThing liver primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005291 biolink:NamedThing embryonic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8 biolink:NamedThing chromosome 8 (Human) tmpte7i6ely_mondo_relaxed.owl 8 145138636 0 hg38 owl:Class GO:0030849 biolink:NamedThing autosome Any chromosome other than a sex chromosome. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008633 biolink:NamedThing Muckle-Wells syndrome Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). tmpte7i6ely_mondo_relaxed.owl Uda syndrome|Cryopyrin-associated periodic syndrome 2|Muckle-Wells syndrome|urticaria, deafness and amyloidosis|neutrophilic urticaria|MWS|MUCKLE-Wells syndrome|Muckle Wells syndrome|urticaria-deafness-amyloidosis syndrome Orphanet:575|UMLS:C0268390|OMIM:191900|ICD9:708.8|UMLS:C1304205|ICD10:E85.0|NCIT:C119054|GARD:0008472|MedDRA:10064569|SCTID:402417009|DOID:0050854 owl:Class MONDO:0016168 biolink:NamedThing cryopyrin-associated periodic syndrome Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). tmpte7i6ely_mondo_relaxed.owl caps|Cryopyrinopathy SCTID:430079001|MedDRA:10068850|ICD10:E85.0|Orphanet:208650|ICD9:759.89|GARD:0010927|NCIT:C84657|UMLS:C2316212|MESH:D056587 owl:Class MONDO:0007668 biolink:NamedThing globulin anomaly involving beta (2A)-globulin tmpte7i6ely_mondo_relaxed.owl globulin anomaly involving beta (2A)-globulin UMLS:C1842009|MESH:C564229|OMIM:137900 owl:Class GO:1900117 biolink:NamedThing regulation of execution phase of apoptosis Any process that modulates the frequency, rate or extent of execution phase of apoptosis. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003534 biolink:NamedThing tail skin tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000014 biolink:NamedThing zone of skin tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:496 biolink:NamedThing RIPK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004592 biolink:NamedThing impetigo A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. tmpte7i6ely_mondo_relaxed.owl MESH:D007169|ICD9:684|EFO:1000714|SCTID:48277006|ICD10:L01|ICD10:L01.00|DOID:8504|UMLS:C0021099|NCIT:C99088|ICD10:L01.0 owl:Class MONDO:0002922 biolink:NamedThing pyoderma Any skin disease that is pyegenic. tmpte7i6ely_mondo_relaxed.owl UMLS:C0034212|SCTID:70759006|MESH:D011711|ICD9:686.0|ICD9:686.09|DOID:4223|ICD9:686.00|ICD10:L08.0 owl:Class MONDO:0018852 biolink:NamedThing achromatopsia Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. tmpte7i6ely_mondo_relaxed.owl Pingelapese blindness|ACHM|complete or incomplete color blindness|Rod monochromatism|monochromatism|achromatopsia|Rod monochromacy|total color blindness ICD10:H53.51|OMIM:613856|OMIM:216900|OMIM:262300|OMIM:616517|DOID:13911|SCTID:102450007|Orphanet:49382|OMIM:613093|ICD10:H53.5|OMIM:610024|NCIT:C84528|ICD9:368.54|UMLS:C0152200|MedDRA:10000454 Editor note: we include incomplete forms here, such as BCM owl:Class UBERON:0004405 biolink:NamedThing distal epiphysis of tibia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004383 biolink:NamedThing epiphysis of tibia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011512 biolink:NamedThing Brooke-Spiegler syndrome Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. tmpte7i6ely_mondo_relaxed.owl CYLD cutaneous syndrome|Brooke-Spiegler syndrome|Bss|Spiegler-Brooke syndrome|BRSS OMIM:605041|ICD9:239.2|SCTID:703531009|DOID:0050693|OMIM:132700|GARD:0010179|MESH:C536611|OMIM:612099|OMIM:601606|UMLS:C1857941|Orphanet:79493 Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 owl:Class UBERON:0001690 biolink:NamedThing ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000020 biolink:NamedThing sense organ tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8124 biolink:NamedThing OGDH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010865 biolink:NamedThing pseudoaminopterin syndrome Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. tmpte7i6ely_mondo_relaxed.owl ASSA|pseudoaminopterin syndrome|aminopterin syndrome sine aminopterin|aminopterin syndrome-like sine aminopterin UMLS:C0795939|Orphanet:221120|MESH:C535823|OMIM:600325|GARD:0004544|ICD10:Q82.0|SCTID:715867000 https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome owl:Class MONDO:0008965 biolink:NamedThing CHARGE syndrome CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). tmpte7i6ely_mondo_relaxed.owl Hall-Hittner syndrome|Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|CHARGE syndrome|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association|CHARGE association OMIM:214800|MESH:D058747|ICD9:759.89|NCIT:C75100|ICD10:Q89.8|DOID:0050834|MedDRA:10064063|GARD:0000029|UMLS:C0265354|Orphanet:138|ICD10:Q87.8|SCTID:47535005 owl:Class MONDO:0015823 biolink:NamedThing primary immunodeficiency due to a defect in adaptive immunity tmpte7i6ely_mondo_relaxed.owl Orphanet:179006 owl:Class GO:0008614 biolink:NamedThing pyridoxine metabolic process The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate. tmpte7i6ely_mondo_relaxed.owl pyridoxine metabolism owl:Class GO:0042816 biolink:NamedThing vitamin B6 metabolic process The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate. tmpte7i6ely_mondo_relaxed.owl vitamin B6 metabolism owl:Class CL:0000056 biolink:NamedThing myoblast A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0650|VHOG:0001529|BTO:0000222|FMA:70335|FBbt:00005083 cell owl:Class CL:0000680 biolink:NamedThing muscle precursor cell A non-terminally differentiated cell that is capable of developing into a muscle cell. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0004414 biolink:NamedThing tamoxifen-related endometrial lesion A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma. tmpte7i6ely_mondo_relaxed.owl tamoxifen-related endometrial disorder NCIT:C40159|DOID:7962|UMLS:C1515212 owl:Class MONDO:0000931 biolink:NamedThing endometrial disorder A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. tmpte7i6ely_mondo_relaxed.owl endometrium disease or disorder|endometrium disease|disease or disorder of endometrium|disorder of endometrium|disease of endometrium|endometrial disorder SCTID:418632009|DOID:1005|NCIT:C3504 owl:Class MONDO:0013814 biolink:NamedThing podoconiosis, susceptibility to tmpte7i6ely_mondo_relaxed.owl podoconiosis, susceptibility to|endemic Nonfilarial elephantiasis, susceptibility to|PDCOS|lymphostatic verrucosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to OMIM:614590 owl:Class ENVO:0010001 biolink:NamedThing anthropogenic environmental material Anthropogenic material in or on which organisms may live. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003772 biolink:NamedThing cerebral meningioma A meningioma that affects the cerebral hemispheres. tmpte7i6ely_mondo_relaxed.owl meningioma of cerebral hemispheres|cerebral hemispheric meningioma|meningioma of the cerebrum|telencephalon meningioma (disease)|meningioma of the cerebral hemispheres|meningioma (disease) of telencephalon|meningioma of cerebrum UMLS:C0542564|SCTID:189164002|NCIT:C4807|DOID:6112 owl:Class MONDO:0000642 biolink:NamedThing brain meningioma A meningioma (disease) that involves the brain. tmpte7i6ely_mondo_relaxed.owl brain meningioma (disease)|meningioma (disease) of brain DOID:0060106 Editor note: TODO check owl:Class GO:0003030 biolink:NamedThing detection of hydrogen ion The series of events in which a hydrogen ion stimulus is received by a cell and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009593 biolink:NamedThing detection of chemical stimulus The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl detection of chemical substance|chemoperception|perception of chemical stimulus|chemoreception|perception of chemical substance owl:Class HGNC:1304 biolink:NamedThing MRAP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006520 biolink:NamedThing cellular amino acid metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular amino acid and derivative metabolic process|amino acid and derivative metabolism|amino acid metabolic process|cellular amino acid metabolism owl:Class GO:0019752 biolink:NamedThing carboxylic acid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpte7i6ely_mondo_relaxed.owl carboxylic acid metabolism owl:Class HGNC:19194 biolink:NamedThing HMCN1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905216 biolink:NamedThing positive regulation of RNA binding Any process that activates or increases the frequency, rate or extent of RNA binding. tmpte7i6ely_mondo_relaxed.owl upregulation of RNA binding|activation of RNA binding|up-regulation of RNA binding|up regulation of RNA binding owl:Class MONDO:0005851 biolink:NamedThing Miller Fisher syndrome An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. tmpte7i6ely_mondo_relaxed.owl ophthalmoplegia, ataxia and areflexia syndrome|cranial variant of Guillain-Barre syndrome|syndrome, Fisher|Miller Fisher variant of Guillain Barre syndrome|syndrome, Miller Fisher|Miller-Fisher syndrome|Guillain-Barre syndrome, Miller Fisher variant|syndrome, Miller-Fisher|Miller-Fisher variant of Guillain-Barre syndrome|cranial variant of Guillain-Barré syndrome|cranial variant of GBS|Guillain Barre syndrome, Miller Fisher variant|Fisher's syndrome|Fisher syndrome UMLS:C0393799|Orphanet:98919|EFO:0007371|GARD:0003668|MedDRA:10049567|MESH:D019846|ICD10:G61.0|NCIT:C116958|DOID:12889|SCTID:1767005 owl:Class MONDO:0016494 biolink:NamedThing regional variant of Guillain-Barre syndrome tmpte7i6ely_mondo_relaxed.owl regional variant of GBS|regional variant of Guillain-Barré syndrome UMLS:CN201496|ICD10:G61.0|Orphanet:231416 owl:Class CL:0000408 biolink:NamedThing male gamete tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0949|BTO:0001277 cell owl:Class CL:0000300 biolink:NamedThing gamete A mature sexual reproductive cell having a single set of unpaired chromosomes. tmpte7i6ely_mondo_relaxed.owl haploid nucleated cell|haploid germ cell FBbt:00005412|CALOHA:TS-0395|FMA:18649 cell owl:Class GO:0002707 biolink:NamedThing negative regulation of lymphocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl inhibition of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity|downregulation of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity owl:Class GO:0002704 biolink:NamedThing negative regulation of leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl down regulation of leukocyte mediated immunity|negative regulation of immune cell mediated immunity|inhibition of leukocyte mediated immunity|negative regulation of leucocyte mediated immunity|down-regulation of leukocyte mediated immunity|downregulation of leukocyte mediated immunity owl:Class MONDO:0012911 biolink:NamedThing pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). tmpte7i6ely_mondo_relaxed.owl pseudohypoparathyroidism, type 1C|PHP1C|pseudohypoparathyroidism, type IC|Php 1C UMLS:C2932716|Orphanet:79444|OMIM:612462|GARD:0010681|SCTID:717792007|ICD10:E20.1|MESH:C548076 https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c owl:Class MONDO:0019695 biolink:NamedThing acromelic dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93436|ICD10:Q74.8 owl:Class GO:0045763 biolink:NamedThing negative regulation of cellular amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpte7i6ely_mondo_relaxed.owl down regulation of amino acid metabolic process|inhibition of amino acid metabolic process|down-regulation of amino acid metabolic process|negative regulation of amino acid metabolism|downregulation of amino acid metabolic process owl:Class GO:0033239 biolink:NamedThing negative regulation of cellular amine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpte7i6ely_mondo_relaxed.owl negative regulation of amine metabolism owl:Class MONDO:0009748 biolink:NamedThing hereditary sensory and autonomic neuropathy with spastic paraplegia This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive|HSAN with spastic paraplegia Orphanet:139578|ICD10:G60.8|UMLS:C4303565|SCTID:717827000|OMIM:256840|MESH:C564948|UMLS:C1850395 owl:Class MONDO:0015089 biolink:NamedThing autosomal recessive complex spastic paraplegia Autosomal recessive form of complex hereditary spastic paraplegia. tmpte7i6ely_mondo_relaxed.owl autosomal recessive complex HSP|autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complicated SPG|complex hereditary spastic paraplegia, autosomal recessive|autosomal recessive complicated HSP|autosomal recessive complicated spastic paraplegia|autosomal recessive complex SPG UMLS:CN228909|Orphanet:100981|ICD10:G11.4 owl:Class MONDO:0009880 biolink:NamedThing short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). tmpte7i6ely_mondo_relaxed.owl pituitary hormone deficiency, combined, 4|short stature, pituitary and cerebellar defects and small sella turcica|pituitary hormone deficiency, combined, with or without cerebellar defects|short stature, pituitary and cerebellar defects, and small sella turcica|pituitary hormone deficiency, combined with or without cerebellar defects|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined 4|CPHD4 GARD:0010604|OMIM:262700|UMLS:C2678408|MESH:C567492|Orphanet:85442 owl:Class MONDO:0013099 biolink:NamedThing combined pituitary hormone deficiencies, genetic form Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. tmpte7i6ely_mondo_relaxed.owl multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism|genetic hypopituitarism|familial hypopituitarism|pituitary hormone deficiency, combined|combined pituitary hormone deficiencies, genetic forms OMIM:182230|Orphanet:95494|OMIM:262600|SCTID:718182008|GARD:0002252|OMIM:613986|UMLS:C2751608|GARD:0010602|ICD10:E23.0|OMIM:613038|OMIMPS:613038 https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism owl:Class ECTO:9001347 biolink:NamedThing exposure to sodium chloride An exposure to sodium chloride. tmpte7i6ely_mondo_relaxed.owl exposure to sodium chloride owl:Class ECTO:9000172 biolink:NamedThing exposure to inorganic compound An exposure to inorganic molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to inorganic molecular entity owl:Class MONDO:0003679 biolink:NamedThing anteroseptal myocardial infarction tmpte7i6ely_mondo_relaxed.owl DOID:5855|UMLS:C0262565|MESH:D056988 owl:Class MONDO:0007018 biolink:NamedThing vulvitis Inflammation of the vulva. It is characterized by pruritus and painful urination. tmpte7i6ely_mondo_relaxed.owl mammalian vulva inflammation|inflammation of mammalian vulva DOID:3901|MESH:D014847|ICD10:N76.2|SCTID:63144007|EFO:1001239|MedDRA:10047780|UMLS:C0042996 owl:Class MONDO:0007219 biolink:NamedThing Osebold-Remondini syndrome A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. tmpte7i6ely_mondo_relaxed.owl OSEBOLD-Remondini syndrome|brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|brachydactyly, type A6|Osebold-Remondini syndrome|brachydactyly type A6|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|BDA6 DOID:0110968|ICD10:Q73.8|MESH:C537092|SCTID:715722003|OMIM:112910|GARD:0000983|UMLS:C1862130|Orphanet:93382 https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6 owl:Class MONDO:0019696 biolink:NamedThing acromesomelic dysplasia A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type tmpte7i6ely_mondo_relaxed.owl acromesomelic dwarfism DOID:0080049|OMIM:602875|GARD:0000006|MESH:C535658|Orphanet:93437|OMIMPS:602875 owl:Class UBERON:0005013 biolink:NamedThing mucosa of male urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012299 biolink:NamedThing mucosa of urethra tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902722 biolink:NamedThing positive regulation of prolactin secretion Any process that activates or increases the frequency, rate or extent of prolactin secretion. tmpte7i6ely_mondo_relaxed.owl up-regulation of prolactin secretion|upregulation of prolactin secretion|activation of prolactin secretion|up regulation of prolactin secretion owl:Class HGNC:8133 biolink:NamedThing OLR1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:09200008 biolink:NamedThing composition of soil The composition of some soil. tmpte7i6ely_mondo_relaxed.owl soil composition owl:Class PATO:0000025 biolink:NamedThing composition A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. tmpte7i6ely_mondo_relaxed.owl compositionality|structure, composition|content|composed of owl:Class MONDO:0025713 biolink:NamedThing angioedema, hereditary, 7 tmpte7i6ely_mondo_relaxed.owl HAE7 OMIM:619366 owl:Class MONDO:0019623 biolink:NamedThing hereditary angioedema Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. tmpte7i6ely_mondo_relaxed.owl hereditary angioedema|hereditary non histamine-induced angioedema|familial angioneurotic edema|hereditary bradykinine-induced angioedema|deficiency of C1 esterase inhibitor|angioedema, hereditary|hereditary angioneurotic edema|HANE|HAE Orphanet:91378|MedDRA:10019860|SCTID:82966003|UMLS:C0019243|NCIT:C84758|ICD10:D84.1|OMIMPS:106100|DOID:14735|OMIM:610618|OMIM:106100|MESH:D054179|GARD:0005979|UMLS:CN239191 owl:Class HP:0010930 biolink:NamedThing Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. tmpte7i6ely_mondo_relaxed.owl Abnormality of monovalent inorganic cation homeostasis UMLS:C4023645 peter 2011-01-06T10:38:38Z human_phenotype owl:Class HP:0010929 biolink:NamedThing Abnormal blood cation concentration An abnormality of cation homeostasis. tmpte7i6ely_mondo_relaxed.owl Abnormality of cation homeostasis UMLS:C4023646 peter 2011-01-06T10:36:04Z human_phenotype owl:Class GO:0007143 biolink:NamedThing female meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline. tmpte7i6ely_mondo_relaxed.owl female meiotic division|female meiosis owl:Class GO:0000280 biolink:NamedThing nuclear division The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. tmpte7i6ely_mondo_relaxed.owl karyokinesis owl:Class MONDO:0016060 biolink:NamedThing laryngotracheoesophageal cleft A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. tmpte7i6ely_mondo_relaxed.owl congenital cleft larynx|Larnygeotracheoesophageal cleft|LC|LTEC|laryngo-tracheo-esophageal cleft|laryngeal cleft|laryngo-tracheo-esophageal diastema|tracheal cleft Orphanet:2004|MESH:C537875|SCTID:232461002|ICD10:Q32.1|GARD:0003188|NCIT:C98622|OMIM:215800 owl:Class MONDO:0015207 biolink:NamedThing non-syndromic esophageal malformation A esophageal malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated esophageal malformation|nonsyndromic esophageal malformation Orphanet:108959 owl:Class MONDO:0009862 biolink:NamedThing dihydropteridine reductase deficiency Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. tmpte7i6ely_mondo_relaxed.owl hyperphenylalaninemia, BH-4-deficient, C|DHPR deficiency|disorder of 6,7-dihydropteridine reductase activity|hyperphenylalaninemia, BH4-deficient, C|dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|Qdpr deficiency|quinoid dihydropteridine reductase deficiency|phenylketonuria type 2|hyperphenylalaninemia, Bh4-deficient, type C|6,7-dihydropteridine reductase activity disease|hyperphenylalaninemia due to dihydropteridine reductase deficiency|hyperphenylalaninemia, BH4-deficient C|HPABH4C|PKU type 2 Orphanet:238583|ICD10:E70.1|NCIT:C138173|SCTID:58256000|OMIM:261630|GARD:0004319|Orphanet:226 https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency owl:Class MONDO:0016543 biolink:NamedThing hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. tmpte7i6ely_mondo_relaxed.owl non-phenylketonuric hyperphenylalaninemia|hyperphenylalaninemia due to tetrahydrobiopterin deficiency|hyperphenylalaninemia|hyperphenylalaninemia due to BH4 deficiency OMIM:261630|OMIM:264070|GARD:0007751|OMIM:261640|SCTID:68528007|OMIM:233910|ICD10:E70.1|Orphanet:238583|UMLS:C0751435 owl:Class MONDO:0008777 biolink:NamedThing gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. tmpte7i6ely_mondo_relaxed.owl GDLD|lattice corneal dystrophy, type 3|corneal amyloidosis|amyloidosis, corneal|primary familial amyloidosis of the cornea|lattice corneal dystrophy type 3|amyloidosis corneal|subepithelial amyloidosis of the cornea|Cdgdl|GDCD|amyloid corneal dystrophy, Japanese type|CDGDL|corneal dystrophy, gelatinous drop-like|gelatinous drop-like corneal dystrophy|corneal dystrophy, lattice type 3 ICD10:H18.5|OMIM:204870|UMLS:C0339273|DOID:0060449|Orphanet:98957|MESH:C535480|GARD:0009647|NCIT:C142805 https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal owl:Class MONDO:0000763 biolink:NamedThing epithelial and subepithelial corneal dystrophy tmpte7i6ely_mondo_relaxed.owl epithelial and subepithelial dystrophy DOID:0060440 owl:Class MONDO:8000005 biolink:NamedThing fungal discitis Discitis caused by infection with fungi. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:8000000 biolink:NamedThing infectious discitis An infection of the intervertebral disc space. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024879 biolink:NamedThing metastatic carcinoma A carcinoma which has spread from the original site of growth to another anatomic site. tmpte7i6ely_mondo_relaxed.owl metastatic carcinoma NCIT:C3482|ICDO:8010/6|UMLS:C1384494 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0024880 biolink:NamedThing metastatic malignant neoplasm A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site. tmpte7i6ely_mondo_relaxed.owl metastatic malignant neoplasm|metastatic cancer|metastatic neoplasm, malignant|malignant metastatic neoplasm NCIT:C36263 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class CHEBI:29101 biolink:NamedThing sodium(1+) A monoatomic monocation obtained from sodium. tmpte7i6ely_mondo_relaxed.owl sodium cation|Na+|SODIUM ION|Na(+)|sodium(1+) ion|sodium(I) cation|sodium(1+) owl:Class CHEBI:33504 biolink:NamedThing alkali metal cation tmpte7i6ely_mondo_relaxed.owl alkali metal cations owl:Class MONDO:0025397 biolink:NamedThing canine distemper A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species. tmpte7i6ely_mondo_relaxed.owl Distempers|canine distemper|distemper, canine|Distempers, canine|canine Distempers MESH:D004216 owl:Class MONDO:0005857 biolink:NamedThing morbillivirus infectious disease Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. tmpte7i6ely_mondo_relaxed.owl Morbillivirus disease or disorder|Morbillivirus infectious disease|Morbillivirus caused disease or disorder EFO:0007377|MESH:D018185|UMLS:C0206614 owl:Class MONDO:0006544 biolink:NamedThing erythema infectiosum A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. tmpte7i6ely_mondo_relaxed.owl fifth disease MESH:D016731|ICD9:057.0|UMLS:C0085273|NCIT:C84695|ICD10:B08.3|EFO:1000693|SCTID:34730008|DOID:8743 owl:Class MONDO:0006619 biolink:NamedThing viral exanthem A virus-induced exanthem tmpte7i6ely_mondo_relaxed.owl ICD9:057.9|SCTID:49882001|EFO:1000776|UMLS:C0153062|ICD9:057.8|DOID:8672 owl:Class MONDO:0010496 biolink:NamedThing X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 35|mental retardation, X-linked 35|mental retardation, X-linked 12|intellectual disability, X-linked type 12|intellectual disability, X-linked 12|mental retardation, X-linked type 12|MRX12 Orphanet:457240|UMLS:C0796218|OMIM:300957 owl:Class MONDO:0013348 biolink:NamedThing cone-rod dystrophy 15 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 15|cone-rod dystrophy caused by mutation in CDHR1|CDHR1 cone-rod dystrophy|CORD15|retinitis pigmentosa 65|cone-rod dystrophy 15 UMLS:C3150912|Orphanet:1872|Orphanet:791|DOID:0111021|OMIM:613660 owl:Class MONDO:0015993 biolink:NamedThing cone-rod dystrophy Inherited retinal dystrophies that belong to the group of pigmentary retinopathies. tmpte7i6ely_mondo_relaxed.owl cone rod dystrophy|cone-rod retinal dystrophy|CRD Orphanet:1872|OMIM:615860|OMIM:614500|OMIM:605549|DOID:0050572|GARD:0010790|OMIM:615374|OMIM:603649|OMIM:612775|OMIM:610381|OMIM:608194|OMIM:601777|OMIM:604116|OMIMPS:120970|OMIM:300476|OMIM:604393|OMIM:613660|OMIM:612657|OMIM:303700|OMIM:610478|OMIM:600624|OMIM:615973|OMIM:602093|OMIM:300834|OMIM:615163|OMIM:120970|OMIM:610283|OMIM:304020|OMIM:616502|ICD10:H35.5|OMIM:600977 owl:Class MONDO:0025431 biolink:NamedThing keratoconjunctivitis, infectious Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia. tmpte7i6ely_mondo_relaxed.owl infectious keratoconjunctivitis|Keratoconjunctivitides, infectious|infectious Keratoconjunctivitides UMLS:C0022576|MESH:D007639 owl:Class MONDO:0004768 biolink:NamedThing keratoconjunctivitis Inflammation of both the cornea and the conjunctiva. tmpte7i6ely_mondo_relaxed.owl ICD10:H16.20|ICD9:370.8|ICD10:H16.2|NCIT:C34744|ICD9:370.40|ICD9:370.49|UMLS:C0022573|DOID:9368|HP:0001096|SCTID:88151007|MESH:D007637 owl:Class MONDO:0017787 biolink:NamedThing erythroderma desquamativum tmpte7i6ely_mondo_relaxed.owl Leiner disease|Leiner-Moussous desquamative erythroderma|erythroderma desquamativum of infancy|generalized erythroderma, diarrhea, and failure to thrive|erythroderma desquamativa of Leiner ICD10:L21.1|UMLS:CN203737|GARD:0002191|MESH:C535512|Orphanet:314|HGNC:1331 Editors note: check whether xref to HGNC:1331 is appropriate https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner owl:Class MONDO:0005046 biolink:NamedThing immune system disorder A disorder resulting from an abnormality in the immune system. tmpte7i6ely_mondo_relaxed.owl immune disease|disorder of immune system|immune system disorder|immune system disease or disorder|disease or disorder of immune system|disease of immune system|immune disorder|immune dysfunction ICD9:279|ICD9:279.8|ICD10:D89.9|ICD9:279.19|ICD9:279.49|ICD9:279.4|OMIM:109100|ICD9:279.9|NCIT:C3507|MESH:D007154|MESH:D001327|ICD9:279.10|SCTID:414029004|ICD9:279.1|DOID:2914|EFO:0000540 owl:Class MONDO:0002626 biolink:NamedThing spinal accessory nerve neoplasm A neoplasm involving a accessory XI nerve spinal component. tmpte7i6ely_mondo_relaxed.owl tumor of accessory XI nerve spinal component|neoplasm of accessory XI nerve spinal component|spinal accessory nerve tumors|accessory XI nerve spinal component neoplasm (disease)|spinal accessory nerve neoplasm|tumor of the eleventh cranial nerve|neoplasm of spinal accessory nerve|eleventh cranial nerve neoplasms|tumor of the spinal accessory nerve|neoplasm of the spinal accessory nerve|XIth cranial nerve tumors|eleventh cranial nerve tumor|neoplasm of the eleventh cranial nerve|tumor of spinal accessory nerve|accessory XI nerve spinal component neoplasm|neoplasm of eleventh cranial nerve|tumor of eleventh cranial nerve|spinal accessory nerve neoplasms|neoplasm of accessory nerve|eleventh cranial nerve neoplasm|accessory nerve neoplasm|spinal accessory nerve tumor|eleventh cranial nerve tumors|XIth cranial nerve neoplasms|accessory XI nerve spinal component tumor ICD9:239.7|UMLS:C1263902|SCTID:126977003|DOID:337|NCIT:C5829 owl:Class MONDO:0002636 biolink:NamedThing accessory nerve disorder A disease involving the accessory XI nerve. tmpte7i6ely_mondo_relaxed.owl disease or disorder of accessory XI nerve|accessory XI nerve disease or disorder|disorder of the 11th nerve|disorder of accessory XI nerve|accessory XI nerve disease|disorder of accessory nerve|disorder of 11th nerve|accessory nerve disorder|disease of accessory XI nerve|eleventh nerve disorder|disorder of accessory [11th] nerve MESH:D020436|UMLS:C0152180|ICD9:352.4|SCTID:84759007|NCIT:C26953|DOID:339 owl:Class MONDO:0005367 biolink:NamedThing heroin dependence Physical and psychological dependence on the drug heroin. tmpte7i6ely_mondo_relaxed.owl Heroin addiction NCIT:C34694|UMLS:CN236651|MESH:D006556|DOID:9976|EFO:0004240|SCTID:231477003 owl:Class MONDO:0005530 biolink:NamedThing opiate dependence Disorders related or resulting from abuse or mis-use of opioids. tmpte7i6ely_mondo_relaxed.owl narcotism|opioid type dependence|opioid dependence DOID:2559|SCTID:75544000|EFO:0005611|MESH:D009293|ICD10:F11.2|ICD9:304.0|ICD9:304.00 owl:Class GO:0042246 biolink:NamedThing tissue regeneration The regrowth of lost or destroyed tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048589 biolink:NamedThing developmental growth The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005666 biolink:NamedThing 4th arch endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000925 biolink:NamedThing endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016901 biolink:NamedThing partial deletion of the long arm of chromosome 2 Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl 2q deletion|chromosome 2q deletion|monosomy 2q|partial monosomy 2q|deletion 2q|2q monosomy|partial monosomy of the long arm of chromosome 2|partial deletion of chromosome 2q|partial deletion of the long arm of chromosome type 2|partial monosomy of chromosome 2q ICD10:Q93.5|Orphanet:262010|GARD:0003744|MESH:C538315|UMLS:C0795804 owl:Class MONDO:0016867 biolink:NamedThing partial deletion of chromosome 2 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 2|partial deletion of chromosome type 2 Orphanet:261771|ICD10:Q93.5 owl:Class GO:2000066 biolink:NamedThing positive regulation of cortisol biosynthetic process Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of cortisol biosynthesis|positive regulation of cortisol formation|positive regulation of cortisol synthesis|positive regulation of cortisol anabolism owl:Class GO:2000064 biolink:NamedThing regulation of cortisol biosynthetic process Any process that modulates the frequency, rate or extent of cortisol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of cortisol synthesis|regulation of cortisol biosynthesis|regulation of cortisol formation|regulation of cortisol anabolism owl:Class MONDO:0016242 biolink:NamedThing hemoglobin C disease Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). tmpte7i6ely_mondo_relaxed.owl Hb-C disease|Hb C disease MedDRA:10018883|ICD10:D58.2|UMLS:C0019021|MESH:C531699|ICD9:282.7|Orphanet:2132|GARD:0002640|SCTID:51053007|MESH:D006445|DOID:2859|NCIT:C34675 https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease owl:Class MONDO:0002280 biolink:NamedThing anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. tmpte7i6ely_mondo_relaxed.owl anemia|anaemia|anemia (disease) anemia (disease) ICD9:285.9|SCTID:271737000|ICD9:285.8|HP:0001903|DOID:2355|EFO:0004272|MESH:D000740|NCIT:C2869|ICD10:D64.9 owl:Class MONDO:0003400 biolink:NamedThing childhood endodermal sinus tumor A yolk sac tumor that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood endodermal sinus tumor|pediatric yolk Sac tumor|childhood endodermal sinus neoplasm|pediatric yolk Sac neoplasm|childhood yolk Sac tumor|pediatric endodermal sinus neoplasm|childhood yolk Sac neoplasm NCIT:C27364|UMLS:C1333016|DOID:5342 owl:Class MONDO:0005744 biolink:NamedThing yolk sac tumor A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. tmpte7i6ely_mondo_relaxed.owl yolk Sac neoplasm|endodermal sinus tumor|infantile embryonal carcinoma|hepatoid yolk sac tumour|yolk SAC tumor, malignant|yolk sac tumor|yolk Sac tumor|yolk Sac tumour site unspecified|yolk Sac tumor site unspecified|endodermal sinus neoplasm ICD10:C62.9|ICDO:9071/3|SCTID:404081005|Orphanet:876|MedDRA:10048251|EFO:0007252|ONCOTREE:BYST|NCIT:C3011|ICD10:C56|DOID:1911|UMLS:C0014145|OMIM:273300 owl:Class MONDO:0000331 biolink:NamedThing Rickettsia helvetica spotted fever A disease caused by infection with Rickettsia helvetica. tmpte7i6ely_mondo_relaxed.owl aneruptive fever|Rickettsia helvetica aneruptive fever|Rickettsia helvetica caused disease or disorder|Rickettsia helvetica infectious disease|Rickettsia helvetica disease or disorder DOID:0050484 owl:Class UBERON:0011823 biolink:NamedThing dense connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002384 biolink:NamedThing connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005484 biolink:NamedThing colorectal adenoma An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpte7i6ely_mondo_relaxed.owl adenoma of large intestine|colorectal adenoma|adenoma of large bowel|adenoma of the large intestine|large intestine adenoma|large bowel adenoma|adenoma of the large bowel|colorectum adenoma DOID:0050914|SCTID:399432003|UMLS:C1302401|DOID:0050860|EFO:0005406|NCIT:C5673 MONDO:0000529 owl:Class MONDO:0020193 biolink:NamedThing secretory apparatus of the lacrimal system anomaly tmpte7i6ely_mondo_relaxed.owl lacrimal gland disease|disease of lacrimal gland|disorder of lacrimal gland Orphanet:98603 owl:Class CHEBI:76736 biolink:NamedThing EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*). tmpte7i6ely_mondo_relaxed.owl EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitor|EC 1.9.* inhibitors|EC 1.9.* inhibitor|EC 1.9.* (oxidoreductase acting on donor heme group) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitor|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitors owl:Class CHEBI:76725 biolink:NamedThing EC 1.* (oxidoreductase) inhibitor An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*). tmpte7i6ely_mondo_relaxed.owl EC 1.* inhibitors|EC 1.* (oxidoreductase) inhibitors|oxidoreductase (EC 1.*) inhibitor|oxidoreductase inhibitors|oxidoreductase inhibitor|oxidoreductase (EC 1.*) inhibitors|EC 1.* inhibitor owl:Class MONDO:0000273 biolink:NamedThing Kunjin virus infectous disease tmpte7i6ely_mondo_relaxed.owl Kunjin encephalitis DOID:0050174 owl:Class MONDO:0019376 biolink:NamedThing West-Nile encephalitis An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. tmpte7i6ely_mondo_relaxed.owl West Nile virus infectious encephalitis|West-Nile fever|West Nile fever encephalitis|West Nile fever with encephalitis|West Nile virus caused infectious encephalitis|West Nile encephalitis SCTID:392662004|GARD:0009959|MESH:D014901|DOID:2365|ICD10:A92.31|EFO:0007545|ICD9:066.41|OMIM:610379|ICD10:A92.3|Orphanet:83476 owl:Class UBERON:0003279 biolink:NamedThing endothelium of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001986 biolink:NamedThing endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005655 biolink:NamedThing ascaridiasis Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. tmpte7i6ely_mondo_relaxed.owl ascaridiosis|infection by Ascaridia|Ascaridia caused disease or disorder|Ascaridia disease or disorder|Ascaridia infectious disease|infection caused by Ascaridia ICD10:B77|MESH:D001198|UMLS:C0003952|SCTID:76160002|SCTID:2435008|EFO:0007155|DOID:3108 owl:Class MONDO:0007896 biolink:NamedThing acute monocytic leukemia Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11). tmpte7i6ely_mondo_relaxed.owl leukemia, acute monocytic|acute monoblastic leukemia and acute monocytic leukemia|acute monocytic leukemia|acute monocytic leukemia (FAB M5B)|AML M5|acute myeloblastic leukemia type 5|acute monocytic leukemia (FAB M5b)|acute monoblastic leukemia|AML-M5|leukemia, monocytic, malignant|acute monocytic leukemia, morphology (morphologic abnormality)|acute monocytic leukemia, FAB M5|acute monocytic leukemia without mention of remission|monocytic leukemia|acute monocytic leukemia, morphology|acute monoblastic/monocytic leukemia|monocytic leukemia, acute OMIM:151380|Orphanet:514|MedDRA:10000871|SCTID:413441006|GARD:0000525|ONCOTREE:AMOL|MedDRA:10059439|NCIT:C4861|UMLS:C0023479|DOID:8864|ICD9:206.0|UMLS:C0023465|MESH:D007948|EFO:0000221|ICDO:9891/3|UMLS:C1318544|ICD10:C92.7|CSP:2004-2820 https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia owl:Class MONDO:0018369 biolink:NamedThing immature ovarian teratoma A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients. tmpte7i6ely_mondo_relaxed.owl malignant ovarian teratoma|malignant germ cell teratoma of the ovary|ovarian immature teratoma|malignant teratoma of the ovary|immature germ cell teratoma of ovary|ovarian malignant teratoma|ovarian germ cell immature teratoma|ovary malignant teratoma|immature teratoma|immature teratoma of ovary|immature ovarian teratoma|immature teratoma of the ovary|immature germ cell teratoma of the ovary|malignant ovarian germ cell teratoma|malignant germ cell teratoma of ovary|ovarian immature germ cell teratoma|malignant teratoma of ovary SCTID:254871000|ONCOTREE:OIMT|NCIT:C8111|DOID:6331|Orphanet:398987|UMLS:CN205036|ICD10:C56|UMLS:C0346182 owl:Class MONDO:0003514 biolink:NamedThing malignant teratoma A malignant form of teratoma. tmpte7i6ely_mondo_relaxed.owl malignant extragonadal teratoma|teratoma, malignant MESH:D013724|NCIT:C4287|NCIT:C4286|DOID:5563 owl:Class MONDO:0014896 biolink:NamedThing congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, Davignon-Chauveau type|MDCDC|congenital muscular dystrophy, Davignon-Chauveau type UMLS:C4310736|Orphanet:486815|OMIM:617066 owl:Class MONDO:0002752 biolink:NamedThing ovarian adenocarcinoma An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl ovary adenocarcinoma|adenocarcinoma of the ovary|ovarian adenocarcinoma|adenocarcinoma of ovary EFO:0006460|NCIT:C7700|Orphanet:213504|ICD10:C56|DOID:3713|MedDRA:10051938 owl:Class MONDO:0007837 biolink:NamedThing Johnson neuroectodermal syndrome Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl Aadh syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|Johnson neuroectodermal syndrome|Johnson-McMillin syndrome|alopecia anosmia deafness hypogonadism syndrome ICD10:Q87.8|SCTID:721584005|GARD:0000378|UMLS:C0796002|MESH:C535882|Orphanet:2316|OMIM:147770 https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome owl:Class MONDO:0021112 biolink:NamedThing scrotum cancer A primary or metastatic malignant neoplasm affecting the scrotum. tmpte7i6ely_mondo_relaxed.owl cancer of scrotum|malignant scrotal tumor|malignant scrotum neoplasm|malignant tumor of scrotum|malignant neoplasm of the scrotum|malignant scrotal neoplasm|scrotum cancer|malignant neoplasm of scrotum|malignant tumor of the scrotum ICD9:187.7|UMLS:C0153604|SCTID:363454002|NCIT:C3560 owl:Class MONDO:0003319 biolink:NamedThing scrotum neoplasm A benign or malignant neoplasm that affects the scrotum. tmpte7i6ely_mondo_relaxed.owl scrotal tumor|scrotum tumor|malignant tumour of scrotum|tumor of scrotum|scrotal neoplasm|tumor of the scrotum|malignant tumor of scrotum|neoplasm of scrotum|scrotum neoplasm (disease)|neoplasm of the scrotum|malignant scrotal neoplasm|scrotal Ca ICD9:239.5|UMLS:C0341790|ICD9:187.7|ICD10:C63.2|SCTID:363454002|DOID:518|UMLS:C0153604|NCIT:C4380|SCTID:126905005|NCIT:C3560 owl:Class UBERON:0019198 biolink:NamedThing dorsal nerve of clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003444 biolink:NamedThing pelvis nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010556 biolink:NamedThing regulation of macromolecule biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014751 biolink:NamedThing palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. tmpte7i6ely_mondo_relaxed.owl palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome|CPRF|cleft palate, psychomotor retardation, and distinctive FACIAL features|cleft palate, psychomotor retardation, and distinctive Facial features OMIM:616728|Orphanet:477993|UMLS:C4225229 owl:Class GO:0019210 biolink:NamedThing kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a kinase. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098772 biolink:NamedThing molecular function regulator A molecular function regulator regulates the activity of its target via non-covalent binding that does not result in covalent modification to the target. Examples of molecular function regulators include regulatory subunits of multimeric enzymes and channels. Mechanisms of regulation include allosteric changes in the target and competitive inhibition. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22744 biolink:NamedThing benzyl group tmpte7i6ely_mondo_relaxed.owl phenylmethyl|C6H5-CH2-|phenylalanine side-chain|benzyl|Bn owl:Class CHEBI:50325 biolink:NamedThing proteinogenic amino-acid side-chain group A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid. tmpte7i6ely_mondo_relaxed.owl proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chain|canonical amino-acid side-chain|proteinogenic amino-acid side-chains|canonical amino-acid side-chains owl:Class MONDO:0002839 biolink:NamedThing leather-bottle stomach A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas. tmpte7i6ely_mondo_relaxed.owl linitis plastica (morphologic abnormality)|linitis plastica DOID:4023|NCIT:C3190|ICDO:8142/3|MESH:D008039|UMLS:C0023743 owl:Class MONDO:0004298 biolink:NamedThing stomach disorder A disease involving the stomach. tmpte7i6ely_mondo_relaxed.owl disorder of stomach|stomach disorder|stomach disease|disease of stomach|stomach disease or disorder|gastropathy|disease or disorder of stomach|gastric disease NCIT:C26886|ICD9:537.9|ICD9:537.89|UMLS:C0038354|MESH:D013272|SCTID:29384001|DOID:76 owl:Class ECTO:9002130 biolink:NamedThing exposure to food preservative An exposure to food preservative. tmpte7i6ely_mondo_relaxed.owl exposure to food preservative owl:Class ExO:0000002 biolink:NamedThing exposure event An interaction between an exposure stressor and an exposure_receptor. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010401 biolink:NamedThing X-linked myopathy with postural muscle atrophy X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. tmpte7i6ely_mondo_relaxed.owl X-linked myopathy with postural muscle atrophy|Emery-Dreifuss muscular dystrophy 6, X-linked|myopathy, X-linked, with postural muscle atrophy|XMPMA ICD10:G71.0|Orphanet:98863|Orphanet:178461|OMIM:300696|Orphanet:261|UMLS:C2678055|DOID:0070251 owl:Class MONDO:0016830 biolink:NamedThing Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl EDMD|Emery-Dreifuss muscular dystrophy|scapuloperoneal syndrome, X-linked (formerly)|Humeroperoneal neuromuscular disease, (formerly) OMIM:612999|OMIM:310300|DOID:11726|SCTID:129620000|OMIM:181350|NCIT:C84685|ICD10:G71.0|GARD:0006329|OMIM:614302|MESH:D020389|OMIM:616516|UMLS:C0410189|OMIM:300696|SCTID:111508004|OMIM:612998|Orphanet:261|OMIMPS:310300 owl:Class MONDO:0014666 biolink:NamedThing hypomyelinating leukodystrophy 11 Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene. tmpte7i6ely_mondo_relaxed.owl hypomyelinating leukodystrophy type 11|POLR1C leukodystrophy|leukodystrophy, hypomyelinating, 11|leukodystrophy, hypomyelinating, type 11|HLD11|leukodystrophy caused by mutation in POLR1C DOID:0060792|UMLS:C4225305|Orphanet:88637|ICD10:G11.1|OMIM:616494 owl:Class MONDO:0019505 biolink:NamedThing hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. tmpte7i6ely_mondo_relaxed.owl 4H syndrome UMLS:CN206304|Orphanet:88637|OMIM:614381|OMIM:607694|ICD10:G11.1|OMIM:616494 owl:Class MONDO:0016584 biolink:NamedThing mandibuloacral dysplasia Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. tmpte7i6ely_mondo_relaxed.owl mandibuloacral dysplasia with lipodystrophy|MAD UMLS:CN118835|OMIM:608612|ICD10:Q87.5|OMIM:248370|GARD:0011893|Orphanet:2457|OMIMPS:248370 owl:Class MONDO:0020087 biolink:NamedThing genetic lipodystrophy Genetic lipodystrophy. tmpte7i6ely_mondo_relaxed.owl genetic lipodystrophy (disease)|genetic lipodystrophy UMLS:C4511302|ICD10:E88.1|SCTID:724841000|Orphanet:98305 owl:Class MONDO:0023809 biolink:NamedThing Milner-Khallouf-Gibson syndrome tmpte7i6ely_mondo_relaxed.owl microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia|Milner Khallouf Gibson syndrome GARD:0003670|UMLS:C2931503|MESH:C537473 https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome owl:Class UBERON:0005565 biolink:NamedThing facio-acoustic neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014387 biolink:NamedThing mesenchyme derived from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012332 biolink:NamedThing short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. tmpte7i6ely_mondo_relaxed.owl thyroid hormone metabolism, abnormal ICD10:E03.1|Orphanet:171706|UMLS:C1864761|OMIM:609698|MESH:C566454 owl:Class UBERON:0000964 biolink:NamedThing cornea tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CARO_0000003 biolink:NamedThing connected anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017711 biolink:NamedThing pancreatic colipase deficiency tmpte7i6ely_mondo_relaxed.owl UMLS:C0268241|OMIM:614338|Orphanet:309108|SCTID:69478001|ICD10:K90.3|ICD9:277.89 owl:Class MONDO:0013700 biolink:NamedThing pancreatic triacylglycerol lipase deficiency An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. tmpte7i6ely_mondo_relaxed.owl PNLIPD|lipase and colipase, deficiency of|PL deficiency|colipase, congenital absence of pancreatic|pancreatic lipase deficiency|lipase, congenital absence of pancreatic|pancreatic triglyceride lipase deficiency|lipase and colipase, congenital absence of pancreatic|pancreatic colipase deficiency ICD10:K90.3|ICD9:277.89|SCTID:78960005|Orphanet:309031|UMLS:C0268240|UMLS:C0268241|OMIM:614338|NCIT:C129030|Orphanet:309108|Orphanet:309111 owl:Class MONDO:0019022 biolink:NamedThing sensorineural hearing loss-early graying-essential tremor syndrome Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. tmpte7i6ely_mondo_relaxed.owl UMLS:CN205488|Orphanet:66633 owl:Class MONDO:0005395 biolink:NamedThing movement disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. tmpte7i6ely_mondo_relaxed.owl movement disease|movement disorder|movement disorders ICD9:333.99|EFO:0004280|SCTID:60342002|MESH:D009069|DOID:480|ICD9:333.90|NCIT:C116757 owl:Class MONDO:0021450 biolink:NamedThing benign neoplasm of heart A benign neoplasm that involves the heart. tmpte7i6ely_mondo_relaxed.owl benign heart tumor|heart benign neoplasm|benign neoplasm of the heart|benign tumor of the heart|benign Cardiac tumor|benign Cardiac neoplasm|benign tumor of heart|benign heart neoplasm ICD9:212.7|ICD10:D15.1|UMLS:C0153957|SCTID:92132009|NCIT:C3605 owl:Class MONDO:0008844 biolink:NamedThing Athrombia, essential tmpte7i6ely_mondo_relaxed.owl Athrombia, essential MESH:C565927|UMLS:C1859595|OMIM:209050 owl:Class HGNC:2847 biolink:NamedThing DGCR8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021510 biolink:NamedThing benign neoplasm of prostate A benign neoplasm that involves the prostate gland. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the prostate|benign prostatic neoplasm|prostate gland benign neoplasm|benign tumor of prostate|benign prostate tumor|benign tumor of the prostate|benign prostate neoplasm SCTID:92308005|UMLS:C0154009|ICD9:222.2|NCIT:C3613|ICD10:D29.1 owl:Class MONDO:0000625 biolink:NamedThing benign male reproductive system neoplasm A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor. tmpte7i6ely_mondo_relaxed.owl benign Male reproductive system tumor|benign Male reproductive system neoplasm|male reproductive organ benign neoplasm NCIT:C4777|UMLS:C0947786|DOID:0060087 owl:Class HGNC:18455 biolink:NamedThing PROK2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000469 biolink:NamedThing negative regulation of peroxidase activity Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity. tmpte7i6ely_mondo_relaxed.owl negative regulation of oxyperoxidase activity|negative regulation of donor:hydrogen-peroxide oxidoreductase activity|negative regulation of peroxidase reaction owl:Class GO:0051354 biolink:NamedThing negative regulation of oxidoreductase activity Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpte7i6ely_mondo_relaxed.owl down-regulation of oxidoreductase activity|down regulation of oxidoreductase activity|inhibition of oxidoreductase activity|oxidoreductase inhibitor|downregulation of oxidoreductase activity owl:Class GO:0045940 biolink:NamedThing positive regulation of steroid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpte7i6ely_mondo_relaxed.owl up-regulation of steroid metabolic process|activation of steroid metabolic process|positive regulation of steroid metabolism|stimulation of steroid metabolic process|up regulation of steroid metabolic process|upregulation of steroid metabolic process owl:Class GO:0045834 biolink:NamedThing positive regulation of lipid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpte7i6ely_mondo_relaxed.owl upregulation of lipid metabolic process|stimulation of lipid metabolic process|up regulation of lipid metabolic process|up-regulation of lipid metabolic process|positive regulation of lipid metabolism|activation of lipid metabolic process owl:Class MONDO:0018063 biolink:NamedThing nodular non-suppurative panniculitis Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. tmpte7i6ely_mondo_relaxed.owl idiopathic nodular panniculitis|Weber-Christian disease|Weber-Christian panniculitis|Relapsing febrile nodular panniculitis|Relapsing febrile nodular nonsuppurative panniculitis|Pfeiffer-Weber-Christian syndrome|Weber Christian disease|panniculitis nodular nonsuppurative|idiopathic lobular panniculitis|nodular non-suppurative febrile panniculitis|WCD|Weber - Christian disease|nodular nonsuppurative panniculitis MedDRA:10047883|ICD10:M35.6|MESH:D010201|UMLS:C0030328|Orphanet:33577|EFO:1000742|GARD:0007879|SCTID:33760009|DOID:1525 owl:Class MONDO:0006591 biolink:NamedThing panniculitis Inflammation of the subcutaneous adipose tissue. tmpte7i6ely_mondo_relaxed.owl inflammation of subcutaneous adipose tissue|subcutis|subcutaneous adipose tissue inflammation|Subcutaneous tissue|Subcutaneous adipose tissue NCIT:C112112|DOID:1526|NCIT:C33645|UMLS:C0030326|ICD9:729.3|EFO:1000746|ICD9:729.30|Wikipedia:Panniculitis|ICD10:M79.3|SCTID:22125009|ICD9:729.39|MESH:D015434 owl:Class MONDO:0016824 biolink:NamedThing infantile myofibromatosis A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. tmpte7i6ely_mondo_relaxed.owl myofibromatosis|infantile hemangiopericytoma|infantile myofibromatosis|IMS|multicentric myofibromatosis GARD:0002998|ICD10:D48.1|SCTID:254146000|OMIMPS:228550|OMIM:615293|Orphanet:2591|ICDO:8824/1|UMLS:C0206648|DOID:0080109|ONCOTREE:IMS|OMIM:228550|MESH:D018224|NCIT:C3742 https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis owl:Class MONDO:0021440 biolink:NamedThing benign neoplasm of skin A benign neoplasm that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl benign cutaneous neoplasm|benign tumor of the skin|zone of skin benign neoplasm|benign skin tumor|benign cutaneous tumor|skin neoplasms, benign|benign skin neoplasm|benign tumor of skin|benign neoplasm of the skin ICD9:216.9|NCIT:C2896|SCTID:92384009|ICD9:216.8|UMLS:C0004998 owl:Class UBERON:0003100 biolink:NamedThing female organism Gonochoristic organism that can produce female gametes. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000468 biolink:NamedThing multicellular organism Anatomical structure that is an individual member of a species and consists of more than one cell. tmpte7i6ely_mondo_relaxed.owl body|animal|organism|whole organism|whole body|Koerper|multi-cellular organism owl:Class MONDO:0018839 biolink:NamedThing acquired schizencephaly An instance of schizencephaly that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired schizencephaly UMLS:CN776925|Orphanet:485275 owl:Class MONDO:0010011 biolink:NamedThing schizencephaly Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. tmpte7i6ely_mondo_relaxed.owl schizencephaly ICD9:742.4|NCIT:C99056|ICD10:Q04.6|OMIM:269160|Orphanet:799|GARD:0000166|SCTID:253159001 owl:Class MONDO:0025459 biolink:NamedThing rinderpest A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010. tmpte7i6ely_mondo_relaxed.owl cattle plague|plague, cattle MESH:D012301|UMLS:C0035637 owl:Class MONDO:0005583 biolink:NamedThing non-human animal disease A disease that occurs in animals. tmpte7i6ely_mondo_relaxed.owl animal disease|diseases, animal MESH:D000820|UMLS:C0003047|EFO:0005932 owl:Class MONDO:0030918 biolink:NamedThing intellectual disability, autosomal dominant 52 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 52|autosomal dominant intellectual disability 52|MRD52|autosomal dominant mental retardation 52|intellectual disability, autosomal dominant 52 DOID:0080231|UMLS:CN671932|EFO:0009152|OMIM:617796 owl:Class MONDO:0015802 biolink:NamedThing autosomal dominant non-syndromic intellectual disability Autosomal dominant form of non-syndromic intellectual disability. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation|autosomal dominant non-syndromic mental retardation|non-syndromic intellectual disability, autosomal dominant|autosomal dominant non-syndromic intellectual disability UMLS:CN200399|GARD:0012107|Orphanet:178469|DOID:0060307 Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability owl:Class UBERON:0005162 biolink:NamedThing multi cell part structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007318 biolink:NamedThing Alagille syndrome Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. tmpte7i6ely_mondo_relaxed.owl Watson Alagille syndrome|Watson-Miller syndrome|Cardiovertebral syndrome|Alagille syndrome|syndromic bile duct paucity|paucity of interlobular bile ducts|hepatic ductular hypoplasia|Hepatofacioneurocardiovertebral syndrome|Arteriohepatic dysplasia|Alagille-Watson syndrome SCTID:31742004|OMIMPS:118450|NCIT:C35139|MedDRA:10053870|GARD:0000804|UMLS:C0085280|MESH:D016738|Orphanet:52|ICD10:Q44.7|OMIM:610205|OMIM:118450|DOID:9245|ICD9:759.89 owl:Class MONDO:0015214 biolink:NamedThing syndromic visceral malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:108973|UMLS:CN226631 owl:Class MONDO:0005998 biolink:NamedThing trombiculiasis Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. tmpte7i6ely_mondo_relaxed.owl Trombiculidae disease or disorder|Trombiculidae caused disease or disorder|Trombiculidae infectious disease UMLS:C0041170|MESH:D014323|EFO:0007526|DOID:8399 owl:Class MONDO:0004389 biolink:NamedThing mite infestation Infestations with arthropods of the subclass acari, superorder Acariformes. tmpte7i6ely_mondo_relaxed.owl SCTID:240885009|ICD10:B88.9|ICD10:B88.0|DOID:7894|ICD9:133|UMLS:C0026229|MESH:D008924|ICD9:133.9 owl:Class MONDO:0013921 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 4 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene. tmpte7i6ely_mondo_relaxed.owl encephalopathy, acute, infection-induced, susceptibility to, 6|herpes simplex encephalitis, susceptibility to, 4|Herpes simplex encephalitis, susceptibility to, type 4|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6|TICAM1 herpes simplex encephalitis|herpes simplex encephalitis caused by mutation in TICAM1|IIAE6|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6 Orphanet:1930|OMIM:614850 owl:Class MONDO:0000166 biolink:NamedThing encephalopathy, acute, infection-induced tmpte7i6ely_mondo_relaxed.owl OMIMPS:610551|UMLS:CN236791 owl:Class UBERON:0003297 biolink:NamedThing gland of integumental system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002530 biolink:NamedThing gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001324 biolink:NamedThing Muscle weakness Reduced strength of muscles. tmpte7i6ely_mondo_relaxed.owl Muscle weakness|Muscular weakness UMLS:C0151786|SNOMEDCT_US:26544005|MSH:D018908 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0002309|HP:0009061|HP:0009012|HP:0008979 human_phenotype owl:Class HP:0011804 biolink:NamedThing Abnormal muscle physiology A functional abnormality of a skeletal muscle. tmpte7i6ely_mondo_relaxed.owl Issue with muscle function|Abnormality of muscle physiology UMLS:C4023182 peter 2012-04-25T02:00:15Z human_phenotype owl:Class MONDO:0008894 biolink:NamedThing cataract-hypertrichosis-intellectual disability syndrome Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl cataract, hypertrichosis, mental retardation syndrome|CAHMR syndrome|cataract, hypertrichosis, intellectual disability syndrome MESH:C537959|SCTID:722379001|OMIM:211770|UMLS:C0796282|Orphanet:1375|ICD10:Q87.8 owl:Class MONDO:0019287 biolink:NamedThing ectodermal dysplasia syndrome The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia (select examples)|congenital ectodermal defect|ectodermal dysplasia UMLS:C0013575|MedDRA:10010452|Orphanet:79373|DOID:2121|ICD9:757.31|SCTID:8654005|GARD:0006317|NCIT:C84683|OMIMPS:305100|MESH:D004476 owl:Class GO:1900424 biolink:NamedThing regulation of defense response to bacterium Any process that modulates the frequency, rate or extent of defense response to bacterium. tmpte7i6ely_mondo_relaxed.owl regulation of defence response to bacterium, incompatible interaction|regulation of defense response to bacterium, incompatible interaction|regulation of resistance response to pathogenic bacterium|regulation of defence response to bacterium|regulation of resistance response to pathogenic bacteria|regulation of antibacterial peptide activity|regulation of defense response to bacteria|regulation of defence response to pathogenic bacteria, incompatible interaction|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of defence response to bacteria owl:Class GO:0032101 biolink:NamedThing regulation of response to external stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000635 biolink:NamedThing planetary landmass A landmass which is part of a planet. tmpte7i6ely_mondo_relaxed.owl ground|land owl:Class ENVO:01000324 biolink:NamedThing planetary surface A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019617 biolink:NamedThing pituitary deficiency due to empty sella turcica syndrome tmpte7i6ely_mondo_relaxed.owl hypopituitarism due to empty sella turcica syndrome UMLS:C4275064|Orphanet:91354|SCTID:715668008|ICD10:E23.0|UMLS:CN206468 owl:Class MONDO:0019834 biolink:NamedThing pituitary hormone deficiency from meningeal origin tmpte7i6ely_mondo_relaxed.owl Orphanet:95505 owl:Class MONDO:0021702 biolink:NamedThing alcohol amnestic disorder A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139) tmpte7i6ely_mondo_relaxed.owl alcohol-induced persisting amnestic disorder|Dysmnesic syndromes, alcohol-induced|syndrome, alcohol-induced Korsakoff|alcoholic Korsakoff syndromes|amnestic disorders, alcohol|alcohol-induced Dysmnesic psychosis|amnestic psychosis, alcohol-induced|amnestic syndrome, alcohol|alcohol-induced amnestic psychosis|alcohol-induced Dysmnesic psychoses|alcohol induced Dysmnesic psychosis|amnestic psychoses, alcohol-induced|alcohol-induced amnestic psychoses|Dysmnesic psychoses, alcohol-induced|amnestic syndromes, alcohol|psychosis, alcohol-induced Dysmnesic|alcohol amnestic disorders|psychoses, alcohol-induced Dysmnesic|psychoses, alcohol-induced amnestic|alcohol amnestic syndromes|alcohol-induced Dysmnesic syndrome|syndromes, alcohol-induced amnestic|alcohol-induced amnestic syndromes|alcohol induced amnestic psychosis|Dysmnesic psychosis, alcohol-induced|alcohol-induced amnestic syndrome|amnestic syndromes, alcohol-induced|alcoholic Korsakoff syndrome|amnestic disorder, alcohol|syndrome, alcoholic Korsakoff|syndromes, alcoholic Korsakoff|syndrome, alcohol amnestic|alcohol-induced Korsakoff syndromes|Korsakoff syndromes, alcohol-induced|syndromes, alcohol-induced Korsakoff|Korsakoff syndromes, alcoholic|alcohol induced Korsakoff syndrome|syndrome, alcohol-induced Dysmnesic|alcohol amnestic syndrome|syndromes, alcohol amnestic|alcohol induced Dysmnesic syndrome|alcohol-induced Korsakoff syndrome|Korsakoff syndrome, alcoholic|psychosis, alcohol-induced amnestic|alcohol induced persisting amnestic disorder|syndromes, alcohol-induced Dysmnesic|amnestic syndrome, alcohol-induced|Korsakoff syndrome, alcohol-induced|syndrome, alcohol-induced amnestic|alcohol induced amnestic syndrome|alcohol-induced Dysmnesic syndromes|amnestic psychosis, alcohol induced|Dysmnesic syndrome, alcohol-induced EFO:1001759|SCTID:73097000|MESH:D000425 owl:Class MONDO:0001152 biolink:NamedThing amnestic disorder Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. tmpte7i6ely_mondo_relaxed.owl Korsakoff's psychosis or syndrome|amnesic syndrome|amnesia|amnestic syndrome ICD9:294.0|EFO:1001454|ICD10:R41.3|SCTID:3298001|NCIT:C2867|DOID:10914 owl:Class MONDO:0005656 biolink:NamedThing Ascaridida infectious disease Infections with nematodes of the order ascaridida. tmpte7i6ely_mondo_relaxed.owl infection, Ascaridida|Ascaridida disease or disorder|Ascaridida infection|infections, Ascaridida|Ascaridida caused disease or disorder EFO:0007156|MESH:D017191 owl:Class MONDO:0005943 biolink:NamedThing Rhabditida infectious disease Infections with nematodes of the order rhabditida. tmpte7i6ely_mondo_relaxed.owl Rhabditida infection|infections, Rhabditida|Rhabditida infections|infection, Rhabditida UMLS:C0162631|MESH:D017196|GARD:0008203|EFO:0007468 owl:Class MONDO:0021746 biolink:NamedThing pyelocystitis tmpte7i6ely_mondo_relaxed.owl Pyelocystitis|Cystopyelitis UMLS:C0034184|EFO:1001835|MESH:D053653 owl:Class MONDO:0006032 biolink:NamedThing cystitis Inflammation of the urinary bladder. tmpte7i6ely_mondo_relaxed.owl bladder infection|urinary bladder inflammation|inflammation of urinary bladder NCIT:C26738|DOID:1679|ICD10:N30|UMLS:C0010692|EFO:1000025|MESH:D003556|ICD9:595.89|ICD9:595|ICD10:N30.9|SCTID:38822007|ICD9:595.9 owl:Class MONDO:0002416 biolink:NamedThing ethmoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpte7i6ely_mondo_relaxed.owl ethmoid sinus epidermoid carcinoma|epidermoid carcinoma of ethmoid sinus|epidermoid carcinoma of ethmoidal sinus|epidermoid carcinoma of the ethmoid sinus|ethmoid sinus squamous cell carcinoma|ethmoidal sinus squamous cell carcinoma|squamous cell carcinoma of ethmoidal sinus|squamous cell carcinoma of the ethmoidal sinus|squamous cell carcinoma of the ethmoid sinus|epidermoid carcinoma of the ethmoidal sinus|squamous cell carcinoma of ethmoid sinus|ethmoidal sinus epidermoid carcinoma DOID:2763|SCTID:707359008|UMLS:C1333477|NCIT:C6065 owl:Class MONDO:0005096 biolink:NamedThing squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma NOS (morphologic abnormality)|squamous carcinoma|malignant squamous cell tumor|epidermoid carcinoma|malignant epidermoid cell neoplasm|squamous cell carcinoma|epidermoid cell cancer|squamous cell carcinoma (morphologic abnormality)|squamous cell epithelioma|squamous cell cancer|carcinoma, squamous cell, malignant|malignant epidermoid cell tumor|malignant squamous cell neoplasm DOID:1749|GARD:0001091|MESH:D018307|NCIT:C2929|ICDO:8070/3|EFO:0000707|MESH:D002294|SCTID:402815007|UMLS:C0007137 owl:Class MONDO:0032616 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 10 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10|MC1DN10 OMIM:618233 owl:Class UBERON:0013776 biolink:NamedThing skin of palmar/plantar part of autopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015790 biolink:NamedThing autopod skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001931 biolink:NamedThing pericholangitis Inflammation of the tissue surrounding the biliary ducts. tmpte7i6ely_mondo_relaxed.owl NCIT:C34916|DOID:14272|UMLS:C0031052|SCTID:111373008 owl:Class MONDO:0004789 biolink:NamedThing cholangitis An acute or chronic inflammatory process affecting the biliary tract. tmpte7i6ely_mondo_relaxed.owl biliary tract infection|inflammation of biliary tree|cholangitis|biliary tree inflammation UMLS:C0008311|ICD9:576.1|DOID:9446|ICD10:K83.0|MESH:D002761|NCIT:C26718|SCTID:82403002 owl:Class MONDO:0021204 biolink:NamedThing chronic otitis media Chronic form of otitis media (disease). tmpte7i6ely_mondo_relaxed.owl otitis media (disease), chronic|chronic otitis media (disease) UMLS:C0271441|ICD9:381.3|SCTID:21186006 owl:Class MONDO:0005441 biolink:NamedThing otitis media Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. tmpte7i6ely_mondo_relaxed.owl middle ear inflammation|otitis Media|middle Ear Inflammation|inflammation of middle ear|medial otitis|otitis media (disease) otitis media (disease) SCTID:65363002|EFO:0004992|ICD10:H66.90|HP:0000388|ICD9:382.9|DOID:10754|UMLS:C0029882|MESH:D010033|ICD10:H66.9|NCIT:C34885 owl:Class MONDO:0004358 biolink:NamedThing subglottis carcinoma A carcinoma of the larynx that arises from the subglottic area. tmpte7i6ely_mondo_relaxed.owl subglottic carcinoma|subglottic cancer|carcinoma of subglottis|carcinoma of the subglottis|cancer of the subglottis|subglottic throat cancer|subglottis carcinoma|cancer of subglottis UMLS:C1299239|NCIT:C5972|SCTID:372104008|DOID:7764 owl:Class MONDO:0010040 biolink:NamedThing ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability tmpte7i6ely_mondo_relaxed.owl ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability UMLS:C3151619|OMIM:270500 owl:Class MONDO:0001197 biolink:NamedThing qualitative platelet defect tmpte7i6ely_mondo_relaxed.owl qualitative platelet defect|qualitative platelet deficiency DOID:11125|UMLS:C0235604|SCTID:267532001|ICD9:287.1|ICD10:D69.1 owl:Class MONDO:0002245 biolink:NamedThing blood platelet disease Disorders caused by abnormalities in platelet count or function. tmpte7i6ely_mondo_relaxed.owl thrombocytopathy|platelet abnormality|platelet disorder NCIT:C131634|SCTID:22716005|MESH:D001791 owl:Class UBERON:0012357 biolink:NamedThing digitopodium bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001474 biolink:NamedThing bone element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007020 biolink:NamedThing Wernicke encephalopathy An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) tmpte7i6ely_mondo_relaxed.owl Wernicke's disease|dementia due to thiamine deficiency|Wernicke's encephalopathy ICD10:E51.2|MESH:D014899|SCTID:21007002|EFO:1001241|Orphanet:97354|ICD9:265.1|DOID:2384|UMLS:C0043121 owl:Class MONDO:0007526 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, progeroid type|Ehlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome with short stature and limb anomalies|B4GALT7-CDG|xylosylprotein 4-beta-galactosyltransferase deficiency|galactosyltransferase I deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|Pds, defective biosynthesis of|galactosyltransferase 1 deficiency|PDS|EDS, progeroid type|EDSSPD1|Ehlers-Danlos syndrome, progeroid type (former)|XGPT deficiency|Ehlers-Danlos syndrome, spondylodysplastic type, 1|defective biosynthesis of proteodermatan sulfate|spondylodysplastic Ehlers-Danlos syndrome DOID:0050802|GARD:0009991|SCTID:720861000|Orphanet:75496|OMIM:615349|UMLS:C1869122|MESH:C536201|ICD10:Q79.6 owl:Class MONDO:0020066 biolink:NamedThing Ehlers-Danlos syndrome The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. tmpte7i6ely_mondo_relaxed.owl Hereditary collagen dysplasia|skin elastic|Ehler Danlos Syndrome|Dystrophia mesodermalis congenita|Ehlers Danlos Disease|danlos ehlers syndrome|Syndrome, Ehlers-Danlos|Ehlers Danlos syndrome|ED syndrome|Disease, Ehlers Danlos|EDS|Meekeren-Ehlers-Danlos syndrome|Ehlers-Danlos Disease|Fibrodysplasia elastica generalisata|Danlos Disease, Ehlers|Disease, Ehlers-Danlos|Ehlers-Danlos syndromes|Danlos disease|elastic skin ICD9:756.83|MedDRA:10014316|DOID:13359|SCTID:398114001|NCIT:C34568|OMIMPS:130000|GARD:0006322|UMLS:C0013720|Orphanet:98249|OMIM:225400|MESH:D004535|ICD10:Q79.6 Cutis hyperelastica|India rubber skin owl:Class MONDO:0007124 biolink:NamedThing ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. tmpte7i6ely_mondo_relaxed.owl ankyloblepharon-ectodermal defects-cleft LIP/palate|Rapp-Hodgkins syndrome|AEC syndrome|ankyloblepharon-ectodermal defects-cleft lip and palate syndrome|Aec syndrome|hay-Wells syndrome|ankyloblepharon ectodermal defects cleft lip/palate|Seres-Santamaria Arimany Muniz syndrome|cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects MESH:C535289|GARD:0006571|SCTID:55821006|GARD:0004805|ICD10:Q82.4|OMIM:106260|DOID:0090119|MESH:C535847|Orphanet:1071 owl:Class MONDO:0007288 biolink:NamedThing cataract 6 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene. tmpte7i6ely_mondo_relaxed.owl posterior polar cataract 1|Posterior polar cataract, 1|cataract, age-related cortical, 2|EPHA2 cataract (disease)|age related cortical cataract 2|cataract 6, multiple types|CTRCT6|ARCC2|cataract (disease) caused by mutation in EPHA2|cataract, posterior polar, 1|CTPP1|CTPA|CTPP Orphanet:98993|Orphanet:91492|OMIM:116600|ICD10:Q12.0|GARD:0010234|DOID:0110229|Orphanet:98994 owl:Class MONDO:0011060 biolink:NamedThing early-onset non-syndromic cataract Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. tmpte7i6ely_mondo_relaxed.owl nuclear sclerosis of the lens|cataract, age-related nuclear Orphanet:98991|OMIM:615188|OMIM:609376|OMIM:115665|OMIM:601202|OMIM:610425|OMIM:607304|OMIM:116800|OMIM:610623|OMIM:611597|OMIM:115800|OMIM:115900|OMIM:605387|OMIM:116100|OMIM:116400|OMIM:616279|OMIM:616509|OMIM:611544|OMIM:616851|OMIM:604307|OMIM:600881|OMIM:116200|Orphanet:91492|OMIM:116700|ICD10:Q12.0|OMIM:605728|OMIM:613763|OMIM:605749|OMIM:609741|OMIM:212500|OMIM:116300|OMIM:116600|OMIM:610019|OMIM:615274|OMIM:610202|OMIM:611391|OMIM:601371|UMLS:C1832423|OMIM:601885|OMIM:614422|OMIM:302200|OMIM:115650|OMIM:612968|OMIM:614691|OMIM:115700|OMIM:604219|OMIM:615277|OMIM:601547|OMIM:115660 Not in the OMIM series. owl:Class HGNC:4198 biolink:NamedThing GCM2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034250 biolink:NamedThing positive regulation of cellular amide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpte7i6ely_mondo_relaxed.owl positive regulation of amide metabolism owl:Class MONDO:0017178 biolink:NamedThing osteochondritis dissecans A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. tmpte7i6ely_mondo_relaxed.owl osteochondritis dissecans (disease)|familial osteochondritis dissecans|SSOAOD|Koenig disease|OCD|osteochondritis dissecans|Konig disease|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans|OD|osteochondritis dissecans and short stature|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|König disease osteochondritis dissecans (disease) UMLS:C0029421|Orphanet:2764|GARD:0012703|GARD:0004133|OMIM:165800|HP:0010886|NCIT:C34878|MESH:D010008|DOID:84|ICD9:732.7|ICD10:M93.2|SCTID:82562007|MedDRA:10031231|ICD10:M93.9|Orphanet:251262 owl:Class MONDO:0018383 biolink:NamedThing osteonecrosis of genetic origin An instance of osteonecrosis that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl bone necrosis of genetic origin|genetic osteonecrosis ICD10:M93.9|Orphanet:399380 owl:Class GO:0018958 biolink:NamedThing phenol-containing compound metabolic process The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpte7i6ely_mondo_relaxed.owl hydroxybenzene metabolic process|hydroxybenzene metabolism|carbolic acid metabolism|carbolic acid metabolic process|phenol-containing compound metabolism owl:Class GO:1901360 biolink:NamedThing organic cyclic compound metabolic process The chemical reactions and pathways involving organic cyclic compound. tmpte7i6ely_mondo_relaxed.owl organic cyclic compound metabolism owl:Class MONDO:0054666 biolink:NamedThing ovarian dysgenesis 5 tmpte7i6ely_mondo_relaxed.owl ovarian dysgenesis 5|ODG5 OMIM:617690|UMLS:C4540141|DOID:0080497 owl:Class MONDO:0009299 biolink:NamedThing 46 XX gonadal dysgenesis 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. tmpte7i6ely_mondo_relaxed.owl FSH-RO|XX female gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|XX-GD|hypergonadotropic ovarian dysgenesis|46,XX gonadal dysgenesis|46,XX pure gonadal dysgenesis|46,XX complete gonadal dysgenesis|46,XX ovarian dysgenesis|ovarian dysgenesis|XX gonadal dysgenesis OMIM:611812|MESH:D023961|UMLS:C0949595|DOID:14450|OMIM:400045|NCIT:C120197|SCTID:95198001|OMIM:300833|OMIM:614324|Orphanet:243|ICD10:Q99.1|OMIMPS:233300|OMIM:233300|OMIM:278850|OMIM:300510 owl:Class MONDO:0019053 biolink:NamedThing peroxisomal disease A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. tmpte7i6ely_mondo_relaxed.owl peroxisomal disease|peroxisomal disorder|disorder of peroxisomal function|peroxisomal function disorder ICD10:E71.50|UMLS:C0282528|SCTID:238059005|ICD9:277.89|DOID:906|Orphanet:68373|ICD10:E71.5|NCIT:C85005|ICD9:277.86 owl:Class MONDO:0017497 biolink:NamedThing congenital absence of thigh and lower leg with foot present, bilateral tmpte7i6ely_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia, bilateral ICD10:Q72.1|ICD10:Q72.13|Orphanet:295091 owl:Class MONDO:0017442 biolink:NamedThing congenital absence of thigh and lower leg with foot present tmpte7i6ely_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia ICD10:Q72.1|Orphanet:294977|SCTID:55852007|ICD9:755.33 owl:Class CHEBI:26833 biolink:NamedThing sulfur atom tmpte7i6ely_mondo_relaxed.owl 16S|S|Schwefel|azufre|sulfur|sulphur|soufre|Elemental sulfur|theion owl:Class CHEBI:25585 biolink:NamedThing nonmetal atom tmpte7i6ely_mondo_relaxed.owl nonmetal|non-metaux|nonmetals|no metal|Nichtmetalle|no metales|Nichtmetall|non-metal owl:Class GO:0000226 biolink:NamedThing microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpte7i6ely_mondo_relaxed.owl microtubule dynamics|microtubule cytoskeleton organization and biogenesis|microtubule cytoskeleton organisation owl:Class GO:0007017 biolink:NamedThing microtubule-based process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024658 biolink:NamedThing extrahepatic bile duct sarcoma A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of extrahepatic bile duct|sarcoma of the extrahepatic bile duct|extrahepatic bile duct sarcoma NCIT:C5029|UMLS:C2205442 owl:Class UBERON:0000397 biolink:NamedThing colonic epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26901 biolink:NamedThing OTOGL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013159 biolink:NamedThing epithalamus mantle layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004061 biolink:NamedThing neural tube mantle layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012418 biolink:NamedThing respiratory system venous smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004696 biolink:NamedThing venous system smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9000156 biolink:NamedThing exposure to water An exposure to water. tmpte7i6ely_mondo_relaxed.owl exposure to water owl:Class UBERON:0000315 biolink:NamedThing subarachnoid space tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000464 biolink:NamedThing anatomical space tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008202 biolink:NamedThing steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpte7i6ely_mondo_relaxed.owl steroid metabolism owl:Class GO:0006629 biolink:NamedThing lipid metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. tmpte7i6ely_mondo_relaxed.owl lipid metabolism owl:Class MONDO:0012536 biolink:NamedThing osteogenesis imperfecta type 7 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, type IIb|OI, type 7|osteogenesis imperfecta type 7|OI type VII|osteogenesis imperfecta, type IIb, formerly|CRTAP osteogenesis imperfecta|osteogenesis imperfecta type VII|osteogenesis imperfecta, type VII|OI type 7|osteogenesis imperfecta caused by mutation in CRTAP|osteogenesis imperfecta, type 7|OI7 Orphanet:216820|Orphanet:216804|DOID:0110337|GARD:0008701|UMLS:C1853162|Orphanet:216812|ICD10:Q78.0|OMIM:610682|SCTID:254111008 owl:Class MONDO:0019019 biolink:NamedThing osteogenesis imperfecta Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. tmpte7i6ely_mondo_relaxed.owl Vrolik's disease|glass bone disease|OI|Fragilitas ossium|Porak and Durante disease|Lobstein's syndrome|Vrolik disease|Lobstein disease|brittle bone disease|Osteopsathyrosis OMIM:610968|Orphanet:666|OMIM:615066|MedDRA:10031243|NCIT:C26837|OMIM:616507|OMIM:259420|MESH:D010013|UMLS:C0029434|OMIM:610915|OMIM:610682|OMIM:613848|OMIM:166230|OMIM:166210|SCTID:78314001|OMIM:166200|DOID:12347|OMIM:613849|OMIM:610967|OMIM:613982|OMIMPS:166200|SCTID:385482004|GARD:0001017|OMIM:615220|OMIM:616229|ICD9:756.51|OMIM:259440|OMIM:166220|UMLS:C1859069|NCIT:C99003|ICD10:Q78.0|OMIM:614856 https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta owl:Class GO:0010468 biolink:NamedThing regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpte7i6ely_mondo_relaxed.owl regulation of gene product expression|regulation of protein expression owl:Class MONDO:0011403 biolink:NamedThing left ventricular noncompaction 1 Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene. tmpte7i6ely_mondo_relaxed.owl left ventricular noncompaction caused by mutation in DTNA|left ventricular noncompaction 1|left ventricular noncompaction type 1|LVNC1|left ventricular noncompaction 1 with or without congenital heart defects|DTNA left ventricular noncompaction OMIM:604169|Orphanet:54260|UMLS:C1858725 owl:Class MONDO:0018901 biolink:NamedThing left ventricular noncompaction Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. tmpte7i6ely_mondo_relaxed.owl Lv non-compaction syndrome|left ventricular non-compaction cardiomyopathy|left ventricular non-compaction syndrome|spongy myocardium|LVNC|left ventricular hypertrabeculation|left ventricular noncompaction (disease) left ventricular noncompaction (disease) UMLS:C4021133|OMIMPS:604169|UMLS:C1960469|OMIM:609470|OMIM:615373|ICD10:I42.8|OMIM:611878|OMIM:601493|OMIM:613426|OMIM:604169|Orphanet:54260|OMIM:601494|OMIM:615396|GARD:0010985|OMIM:615092|NCIT:C99544|OMIM:613424|DOID:0060480 https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction owl:Class MONDO:0015942 biolink:NamedThing frontometaphyseal dysplasia Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl frontometaphyseal dysplasia|FMD SCTID:62803002|GARD:0000826|OMIM:617137|OMIMPS:305620|OMIM:305620|MESH:C538064|Orphanet:1826|DOID:0111785|ICD9:759.89|ICD10:Q78.5 owl:Class UBERON:0013687 biolink:NamedThing pericranium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002515 biolink:NamedThing periosteum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004468 biolink:NamedThing anal canal Paget disease Paget disease involving the squamous epithelium of the anal canal. tmpte7i6ely_mondo_relaxed.owl Paget's disease of anal canal|anal canal mammary Paget's disease|Paget disease of the anal canal|anal canal Paget disease|anal canal Paget's disease|Paget's disease of the anal canal UMLS:C1332261|SCTID:236811000119101|NCIT:C7477|DOID:8119 owl:Class MONDO:0021165 biolink:NamedThing Paget disease A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. tmpte7i6ely_mondo_relaxed.owl Paget cell neoplasm|Paget's cell neoplasm|Paget's disease|Paget disease NCIT:C7073 owl:Class MONDO:0008154 biolink:NamedThing osteomas of mandible tmpte7i6ely_mondo_relaxed.owl osteomas of mandible MESH:C563485|OMIM:166400|UMLS:C1833733 owl:Class MONDO:0021522 biolink:NamedThing benign neoplasm of lower jaw bone A benign neoplasm that involves the bone of lower jaw. tmpte7i6ely_mondo_relaxed.owl bone of lower jaw benign neoplasm SCTID:92208007|NCIT:C34417|ICD10:D16.5|ICD9:213.1|UMLS:C0004994 owl:Class MONDO:0017634 biolink:NamedThing non-infectious anterior uveitis tmpte7i6ely_mondo_relaxed.owl non-infectious iridocyclitis SCTID:267619000|UMLS:C0339317|Orphanet:306648 owl:Class MONDO:0006651 biolink:NamedThing anterior uveitis Inflammation of the iris and anterior chamber of the eye. tmpte7i6ely_mondo_relaxed.owl iridocyclitis|anterior uveitis|anterior uveitis (disease) anterior uveitis (disease) EFO:1000811|MedDRA:10002709|SCTID:410692006|HP:0012122|ICD10:H20.9|ICD10:H20.0|CSP:1114-9593|UMLS:C0042165|UMLS:C0022073|ICD10:H20.1|DOID:1407|ICD10:H20.2|MESH:D014606|NCIT:C35109|GARD:0010941|ICD10:H20.8|Orphanet:280886|SCTID:77971008 owl:Class MONDO:0018538 biolink:NamedThing inherited digestive cancer-predisposing syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN237539|Orphanet:425003 owl:Class MONDO:0015356 biolink:NamedThing hereditary neoplastic syndrome The inherited predisposition toward getting a tumor. tmpte7i6ely_mondo_relaxed.owl syndromes, hereditary neoplastic|inherited cancer syndrome|inherited cancer-predisposing syndrome|cancer syndromes, hereditary|familial tumor syndrome|cancer syndrome, hereditary|hereditary neoplastic syndrome|hereditary neoplastic syndromes|hereditary cancer syndrome|neoplastic syndrome, hereditary|hereditary cancer syndromes|familial neoplastic syndrome|syndromes, hereditary cancer|hereditary tumor syndrome|syndrome, hereditary neoplastic|syndrome, hereditary cancer UMLS:CN199448|NCIT:C3266|Orphanet:140162|SCTID:699346009|UMLS:C0027672|MESH:D009386|UMLS:CN882908 owl:Class MONDO:0017910 biolink:NamedThing dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. tmpte7i6ely_mondo_relaxed.owl Desiccytosis hereditary|hereditary xerocytosis|xerocytosis hereditary ICD10:D58.8|DOID:0111575|GARD:0005623|OMIM:194380|Orphanet:3202|SCTID:715526002|OMIM:616689 owl:Class MONDO:0020102 biolink:NamedThing hereditary stomatocytosis tmpte7i6ely_mondo_relaxed.owl hereditary stomatocytic disease ICD10:D58.8|SCTID:14087004|Orphanet:98365|UMLS:C1262483|ICD9:282.8 owl:Class GO:0045824 biolink:NamedThing negative regulation of innate immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. tmpte7i6ely_mondo_relaxed.owl downregulation of innate immune response|inhibition of innate immune response|down-regulation of innate immune response|down regulation of innate immune response owl:Class GO:0031348 biolink:NamedThing negative regulation of defense response Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. tmpte7i6ely_mondo_relaxed.owl inhibition of defense response|down-regulation of defense response|down regulation of defense response|downregulation of defense response owl:Class MONDO:0007097 biolink:NamedThing Finnish type amyloidosis tmpte7i6ely_mondo_relaxed.owl amyloidosis V|AGel amyloidosis|familial amyloidosis, Finnish type|corneal dystrophy, lattice type 2|meretoja syndrome|amyloidosis, MERETOJA type|lattice corneal dystrophy, type 2|amyloidosis 5|cerebral amyloid angiopathy, Gsn-related|hereditary amyloidosis, Finnish type|lattice corneal dystrophy type II Finnish|amyloidosis due to mutant gelsolin|meretoja type amyloidosis|amyloidosis, Finnish type|amyloidosis, Meretoja type|gelsolin amyloidosis|hereditary gelsolin amyloidosis|amyloid cranial neuropathy with lattice corneal dystrophy|familial amyloid polyneuropathy type IV ICD9:277.39|OMIM:105120|ICD10:E85.1|MESH:C537459|DOID:0050637|GARD:0002339|SCTID:419398009|Orphanet:85448 owl:Class MONDO:0020127 biolink:NamedThing genetic peripheral neuropathy Genetic peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl genetic peripheral neuropathy Orphanet:98497 owl:Class CHEBI:83925 biolink:NamedThing non-proteinogenic alpha-amino acid Any alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpte7i6ely_mondo_relaxed.owl non-proteinogenic alpha-amino-acid|non-proteinogenic alpha-amino-acids|non-proteinogenic alpha-amino acids owl:Class CHEBI:83820 biolink:NamedThing non-proteinogenic amino acid Any amino-acid that is not naturally encoded in the genetic code of any organism. tmpte7i6ely_mondo_relaxed.owl non-coded amino acids|non-proteinogenic amino-acid|non-canonical amino-acids|non-coded amino acid|non-proteinogenic amino acids|non-canonical amino acids|non-canonical amino acid|non-proteinogenic amino-acids|non-coded amino-acids|non-coded amino-acid|non-canonical amino-acid owl:Class GO:0009235 biolink:NamedThing cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpte7i6ely_mondo_relaxed.owl vitamin B12 reduction|cobalamin metabolism|vitamin B12 metabolism|vitamin B12 metabolic process owl:Class GO:0033013 biolink:NamedThing tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpte7i6ely_mondo_relaxed.owl tetrapyrrole metabolism owl:Class GO:1905554 biolink:NamedThing negative regulation of vessel branching Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching. tmpte7i6ely_mondo_relaxed.owl down-regulation of branching involved in blood vessel morphogenesis|downregulation of branching involved in blood vessel morphogenesis|negative regulation of branching involved in blood vessel morphogenesis|downregulation of patterning of blood vessels|down regulation of patterning of blood vessels|down regulation of branching involved in blood vessel morphogenesis|inhibition of patterning of blood vessels|down-regulation of patterning of blood vessels|inhibition of branching involved in blood vessel morphogenesis owl:Class GO:1905553 biolink:NamedThing regulation of blood vessel branching Any process that modulates the frequency, rate or extent of blood vessel branching. tmpte7i6ely_mondo_relaxed.owl regulation of branching involved in blood vessel morphogenesis owl:Class MONDO:0032591 biolink:NamedThing hyperparathyroidism, transient neonatal tmpte7i6ely_mondo_relaxed.owl HRPTTN|hyperparathyroidism, transient neonatal OMIM:618188 owl:Class MONDO:0016166 biolink:NamedThing genetic hyperparathyroidism Genetic hyperparathyroidism. tmpte7i6ely_mondo_relaxed.owl genetic hyperparathyroidism OMIM:145001|Orphanet:208596|OMIM:610071|OMIM:145000|OMIMPS:145000 owl:Class MONDO:0013818 biolink:NamedThing trichohepatoenteric syndrome 2 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene. tmpte7i6ely_mondo_relaxed.owl TRICHOHEPATOENTERIC syndrome 2|SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L|Trichohepatoenteric syndrome 2|Trichohepatoenteric syndrome type 2|THES2 OMIM:614602|UMLS:C3281289|Orphanet:84064|DOID:0111416 owl:Class MONDO:0009105 biolink:NamedThing trichohepatoenteric syndrome A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. tmpte7i6ely_mondo_relaxed.owl Trichohepatoenteric syndrome type 1|SD/THE|Syndromatic diarrhea|phenotypic diarrhea|Tricho-hepato-enteric syndrome|syndromic diarrhea/Tricho-hepato-enteric syndrome|syndromic diarrhea|Trichohepatoenteric syndrome|THES1 UMLS:C1857276|GARD:0005258|OMIM:222470|OMIM:614602|OMIMPS:222470|Orphanet:84064|SCTID:703406006|DOID:0111414 owl:Class HGNC:30836 biolink:NamedThing POC1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010857 biolink:NamedThing semantic dementia Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. tmpte7i6ely_mondo_relaxed.owl Ftld with Tau inclusions|frontotemporal dementia with Parkinsonism|dementia, frontotemporal, with Parkinsonism|FTD|frontotemporal lobar Degeneration with Tau inclusions|frontotemporal lobe dementia|Wilhelmsen-Lynch disease|Pick Complex|Ftdp17|multiple system tauopathy with presenile dementia|semantic variant PPA|disinhibition-dementia-Parkinsonism-amyotrophy Complex|Pallidopontonigral Degeneration|semantic primary progressive aphasia|frontotemporal dementia OMIM:600274|Orphanet:100069|ICD10:G31.0|UMLS:C0338451|GARD:0010792|Orphanet:282 owl:Class MONDO:0015059 biolink:NamedThing progressive non-fluent aphasia Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. tmpte7i6ely_mondo_relaxed.owl Primary Progressive Nonfluent aphasia|Agramatic variant of primary progressive aphasia|non-fluent primary progressive aphasia|Agramatic variant of PPA|non-fluent variant PPA SCTID:716281000|OMIM:600274|ICD10:G31.0|NCIT:C85025|MedDRA:10029542|Orphanet:100070|OMIM:607485|MESH:D057178|GARD:0010793 https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia owl:Class MONDO:0018741 biolink:NamedThing paracetamol poisoning tmpte7i6ely_mondo_relaxed.owl acetaminophen poisoning Orphanet:464458|ICD9:965.4|SCTID:70273001 owl:Class MONDO:0029000 biolink:NamedThing poisoning A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. tmpte7i6ely_mondo_relaxed.owl intoxication|poisoning syndrome|Poisonings UMLS:C0302332|EFO:0008546|MESH:D011041|SCTID:75478009 owl:Class MONDO:0020434 biolink:NamedThing atrial septal defect, ostium secundum type tmpte7i6ely_mondo_relaxed.owl ostium secundum ASD|ASD, ostium secundum type|ASD ostium secundum type|ostium secundum atrial septal defect|osASD GARD:0005865|ICD10:Q21.1|MedDRA:10031303|Orphanet:99103|MedDRA:10031302 owl:Class MONDO:0006664 biolink:NamedThing atrial septal defect Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. tmpte7i6ely_mondo_relaxed.owl atrial septal defect|ASD|atrioseptal defect|auricular septal defect|congenital atrial septal defect|interatrial septal defect|interauricular communication|interauricular septal defect|interatrial communication|atrial septum defect OMIM:614475|OMIM:614433|UMLS:C0018817|OMIM:108800|Orphanet:1478|EFO:1000825|MedDRA:10019308|OMIM:613087|OMIMPS:108800|OMIM:607941|OMIM:612794|NCIT:C84473|MedDRA:10003664|OMIM:611363|MedDRA:10068864|MESH:D006344|SCTID:253366007|DOID:1882|OMIM:614089|ICD10:Q21.1 owl:Class MONDO:0005319 biolink:NamedThing humerus fracture A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. tmpte7i6ely_mondo_relaxed.owl humeral fracture|fractures, humeral|fracture, humeral SCTID:66308002|NCIT:C26795|EFO:0003943|MESH:D006810 owl:Class MONDO:0005172 biolink:NamedThing skeletal system disorder A disease involving the skeletal system. tmpte7i6ely_mondo_relaxed.owl disease or disorder of skeletal system|skeletal system disease or disorder|disease of skeletal system|disorder of skeletal system|osteoarthropathy|skeletal system disease|disease of bone and/or joint UMLS:C0263661|SCTID:88230002|EFO:0002461 owl:Class MONDO:0005684 biolink:NamedThing bulbar polio A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) tmpte7i6ely_mondo_relaxed.owl poliomyelitis, medullary involvement|bulbar poliomyelitis|bulbar polio|polio, bulbar|medullary involvement poliomyelitis DOID:9786|UMLS:C0032372|ICD9:045.0|MESH:D011052|EFO:0007186 owl:Class MONDO:0000341 biolink:NamedThing paralytic poliomyelitis A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. tmpte7i6ely_mondo_relaxed.owl DOID:0050515 owl:Class MONDO:0023015 biolink:NamedThing duodenal atresia tetralogy of fallot tmpte7i6ely_mondo_relaxed.owl GARD:0001919 https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot owl:Class MONDO:0700018 biolink:NamedThing chromosome 11 disorder Chromosomal disorder in which chromosome 11 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0020049 biolink:NamedThing autosomal anomaly A chromosomal anomaly that involves an autosome. tmpte7i6ely_mondo_relaxed.owl autosome chromosomal anomaly|chromosomal anomaly of autosome Orphanet:98127|UMLS:CN227743 owl:Class MONDO:0010190 biolink:NamedThing pontocerebellar hypoplasia type 2A tmpte7i6ely_mondo_relaxed.owl PCH2A|pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|pontocerebellar hypoplasia with progressive cerebral atrophy|microcephaly pontocerebellar hypoplasia dyskinesia|pontocerebellar hypoplasia, type 2A|Pch2|Volendam neurodegenerative disease|TSEN54 pontocerebellar hypoplasia type 2 OMIM:277470|MESH:C564738|DOID:0060267|Orphanet:2524|GARD:0003631 https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia owl:Class UBERON:0012177 biolink:NamedThing skin apocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019319 biolink:NamedThing exocrine gland of integumental system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19691 biolink:NamedThing MECR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019722 biolink:NamedThing glomerular disorder A disease involving the renal glomerulus. tmpte7i6ely_mondo_relaxed.owl glomerulopathies|renal glomerulus disease or disorder|disease or disorder of renal glomerulus|renal glomerulus disease|disorder of renal glomerulus|disease of renal glomerulus|glomerulopathy GTR:AN0966176|Orphanet:93548|NCIT:C120887|UMLS:CN580795|SCTID:197679002|ICD10:N00.N08 owl:Class GO:0006661 biolink:NamedThing phosphatidylinositol biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. tmpte7i6ely_mondo_relaxed.owl phosphoinositide biosynthesis|phosphatidylinositol biosynthesis|phosphatidylinositol formation|phosphatidylinositol anabolism|phosphoinositide biosynthetic process|PtdIns biosynthesis|phosphatidylinositol synthesis|PtdIns biosynthetic process owl:Class GO:0046474 biolink:NamedThing glycerophospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. tmpte7i6ely_mondo_relaxed.owl glycerophospholipid anabolism|glycerophospholipid formation|glycerophospholipid synthesis|phosphoglyceride biosynthesis|phosphoglyceride biosynthetic process|glycerophospholipid biosynthesis owl:Class MONDO:0007531 biolink:NamedThing electroencephalographic peculiarity: fronto-precentral beta wave groups tmpte7i6ely_mondo_relaxed.owl electroencephalographic peculiarity: fronto-precentral beta wave groups OMIM:130300 owl:Class UBERON:0001245 biolink:NamedThing anus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000161 biolink:NamedThing orifice tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018078 biolink:NamedThing soft tissue sarcoma A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. tmpte7i6ely_mondo_relaxed.owl sarcoma of soft tissue|non-Rhabdo. soft tissue sarcoma|soft part sarcoma|malignant soft tissue tumor|malignant mesenchymal tumor|connective tissue sarcoma|soft tissue sarcoma|sarcoma of the soft tissue EFO:1001968|UMLS:CN204398|SCTID:424952003|GARD:0004898|Orphanet:3394|NCIT:C9306 owl:Class MONDO:0008527 biolink:NamedThing tarsal coalition tmpte7i6ely_mondo_relaxed.owl tarsal coalition|tarsal fusion ICD9:755.67|SCTID:27173008|OMIM:186850 owl:Class OBO:CARO_0000006 biolink:NamedThing material anatomical entity tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CARO_0000000 biolink:NamedThing anatomical entity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001376 biolink:NamedThing urinary bladder anterior wall cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of anterior wall of urinary bladder ICD9:188.3|UMLS:C0153611|SCTID:188242006|ICD10:C67.3|DOID:11814 owl:Class MONDO:0001187 biolink:NamedThing urinary bladder cancer A primary or metastatic malignant neoplasm involving the bladder. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the urinary bladder|malignant urinary bladder tumor|malignant bladder neoplasm|malignant neoplasm of bladder|tumor of the bladder|malignant tumor of the bladder|malignant tumor, urinary bladder|malignant urinary bladder neoplasm|urinary bladder cancer|malignant tumor of the urinary bladder|cancer of urinary bladder|malignant bladder tumor|malignant neoplasm of the bladder|malignant tumor of urinary bladder|urinary bladder malignant neoplasm|malignant neoplasm, urinary bladder|malignant tumor of bladder|malignant neoplasm of urinary bladder|malignant neoplasm, bladder|urinary bladder malignant tumor KEGG:05219|OMIM:109800|SCTID:126885006|SCTID:399326009|ICD9:188.9|UMLS:C0005684|DOID:11054|ICD9:188|ICD10:C67|Orphanet:157980|NCIT:C9334|ICD10:C67.9|NCIT:C2901|UMLS:C0005695|ICD9:188.8 owl:Class CHEBI:35693 biolink:NamedThing dicarboxylic acid anion tmpte7i6ely_mondo_relaxed.owl dicarboxylic acid anions|dicarboxylic acid anion owl:Class CHEBI:29067 biolink:NamedThing carboxylic acid anion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. tmpte7i6ely_mondo_relaxed.owl carboxylic anions|carboxylic acid anions|a carboxylate owl:Class MONDO:0020811 biolink:NamedThing mitochondrial complex III deficiency, nuclear type tmpte7i6ely_mondo_relaxed.owl OMIMPS:124000 owl:Class GO:0032387 biolink:NamedThing negative regulation of intracellular transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. tmpte7i6ely_mondo_relaxed.owl downregulation of intracellular transport|inhibition of intracellular transport|down regulation of intracellular transport|down-regulation of intracellular transport owl:Class GO:0051051 biolink:NamedThing negative regulation of transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down-regulation of transport|inhibition of transport|downregulation of transport|down regulation of transport owl:Class MONDO:0005189 biolink:NamedThing internal carotid artery stenosis Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta. tmpte7i6ely_mondo_relaxed.owl ICD9:433.10|EFO:0002615|Wikipedia:Carotid_artery_stenosis|SCTID:233964008 owl:Class MONDO:0011057 biolink:NamedThing cerebrovascular disorder A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. tmpte7i6ely_mondo_relaxed.owl CVA|CVA (cerebral vascular accident)|cerebrovascular disease|cerebral infarction|cerebrovascular accident|stroke|cerebrovascular disorder ICD10:I60-I69|ICD10:I67.9|ICD10:I60.I69|DOID:6713|ICD9:430-438.99|EFO:0003763|EFO:0000712|SCTID:62914000|MESH:D002561|ICD9:434.91|ICD9:437.8|NCIT:C3390|NCIT:C2938|OMIM:601367|ICD9:437.9|ICD10:I63.9|MESH:D020521|SCTID:230690007|UMLS:C0007820 owl:Class MONDO:0011011 biolink:NamedThing skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl GURRIERI syndrome|Gurrieri-Sammito-Bellussi syndrome|mental retardation, epilepsy, short stature and skeletal dysplasia|intellectual disability, epilepsy, short stature and skeletal dysplasia GARD:0000350|Orphanet:1858|MESH:C537625|SCTID:715428003|ICD10:Q87.5|OMIM:601187|UMLS:C0796046 owl:Class MONDO:0014613 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene. tmpte7i6ely_mondo_relaxed.owl PFBMFT3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1 UMLS:C4225346|Orphanet:2032|OMIM:616373 owl:Class MONDO:0000148 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related tmpte7i6ely_mondo_relaxed.owl OMIMPS:614742|UMLS:CN262497 See genetic heterogeneity of OMIM 614742. owl:Class MONDO:0009727 biolink:NamedThing atelosteogenesis type II Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. tmpte7i6ely_mondo_relaxed.owl neonatal osseous dysplasia type 1|De la Chapelle dysplasia|atelosteogenesis II|Aoii|atelosteogenesis type II|atelosteogenesis, type 2|De 50A Chapelle dysplasia|neonatal osseous dysplasia 1|atelosteogenesis type 2|atelosteogenesis, type II|AO2|AOII UMLS:C1850555|UMLS:C1850554|OMIM:256050|MESH:C535395|SCTID:254055004|ICD10:Q77.5|GARD:0008329|ICD9:756.9|Orphanet:56304 owl:Class MONDO:0018187 biolink:NamedThing genetic syndromic Pierre Robin syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:363294|UMLS:CN204685 owl:Class MONDO:0010964 biolink:NamedThing epiphyseal dysplasia, multiple, 3 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene. tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, multiple, type 3|epiphyseal dysplasia, multiple, 3, with myopathy|epiphyseal dysplasia, multiple, 3|EDM3|multiple epiphyseal dysplasia 3|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3|epiphyseal dysplasia multiple 3|COL9A3 multiple epiphyseal dysplasia (disease) OMIM:600969|DOID:0070304|UMLS:C1832998|GARD:0009792|Orphanet:166002|MESH:C535503 https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3 owl:Class MONDO:0015627 biolink:NamedThing multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. tmpte7i6ely_mondo_relaxed.owl OMIM:600204|Orphanet:166002|ICD10:Q77.3|SCTID:766717008|OMIM:600969|OMIM:614135|DOID:0070305 owl:Class CHEBI:38106 biolink:NamedThing organosulfur heterocyclic compound tmpte7i6ely_mondo_relaxed.owl organosulfur heterocyclic compounds|heterocyclic organosulfur compounds owl:Class CHEBI:24532 biolink:NamedThing organic heterocyclic compound A cyclic compound having as ring members atoms of carbon and at least of one other element. tmpte7i6ely_mondo_relaxed.owl organic heterocyclic compounds|organic heterocycle owl:Class MONDO:0044306 biolink:NamedThing neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}). tmpte7i6ely_mondo_relaxed.owl severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract|NECFM|neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Orphanet:500545|OMIM:617393|UMLS:C4479333 owl:Class MONDO:0700092 biolink:NamedThing neurodevelopmental disorder A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. tmpte7i6ely_mondo_relaxed.owl MedDRA:C1535926|UMLS:C1535926|SCTID:700364009|MESH:D065886|NCIT:C1535926 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3410 owl:Class UBERON:0001911 biolink:NamedThing mammary gland A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males. tmpte7i6ely_mondo_relaxed.owl lactiferous gland|glandula mammaria owl:Class UBERON:0004121 biolink:NamedThing ectoderm-derived structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044913 biolink:NamedThing metastatic malignant neoplasm in the eye A malignant neoplasm that has spread to the eye from another anatomic site. tmpte7i6ely_mondo_relaxed.owl Metastatic malignant neoplasm to the eye|Metastatic neoplasm to the eye|Metastatic malignant neoplasm in the eye|Metastatic tumor to the eye|Metastases to the eye|metastasis to the eye|eye metastasis|Metastases to eye|metastasis to eye UMLS:C0347019|NCIT:C4586|SCTID:94292003 owl:Class MONDO:0002236 biolink:NamedThing ocular cancer A benign or malignant neoplasm affecting the structures of the eye. tmpte7i6ely_mondo_relaxed.owl eye cancer|neoplasm of eye proper|eye neoplasm|malignant eye neoplasm|neoplasm of eye|malignant eyeball of camera-type eye neoplasm|malignant tumor of the eye|eyeball of camera-type eye cancer|malignant eye tumor|ocular tumor|cancer of eye|malignant ocular tumor|malignant ocular neoplasm|malignant neoplasm of the eye|eye neoplasm, malignant|cancer of eyeball of camera-type eye|malignant neoplasm of eyeball of camera-type eye|malignant neoplasm of eye|cancer of the eye|malignant tumor of eye ICD9:239.89|SCTID:371486001|NCIT:C3030|MESH:D005134|ICD9:190.8|DOID:2174|NCIT:C4767 Editor note: check to see whether structure is eye or eye + adnexa owl:Class HGNC:16473 biolink:NamedThing NME8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004757 biolink:NamedThing chronic ethmoidal sinusitis Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpte7i6ely_mondo_relaxed.owl chronic ethmoiditis|ethmoid sinusitis, chronic|chronic ethmoid sinusitis|chronic ethmoidal sinusitis|ethmoidal sinusitis - chronic NCIT:C34472|UMLS:C0008681|ICD10:J32.2|DOID:9312|ICD9:473.2|SCTID:73237007 owl:Class MONDO:0005756 biolink:NamedThing ethmoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. tmpte7i6ely_mondo_relaxed.owl ethmoiditis|ethmoid bone sinusitis|ethmoidal sinusitis|sinusitis of ethmoid bone MESH:D015521|ICD10:J32.2|SCTID:18643000|EFO:0007264|DOID:9507|UMLS:C0015029|NCIT:C34597 owl:Class MONDO:0007244 biolink:NamedThing Caffey disease Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. tmpte7i6ely_mondo_relaxed.owl cortical congenital hyperostosis|infantile cortical hyperostosis|Caffey disease UMLS:C0020497|SCTID:24752008|DOID:4257|Orphanet:1310|MESH:D006958|ICD10:M89.8|ICD9:756.59|GARD:0001051|OMIM:114000|NCIT:C118423 owl:Class MONDO:0019702 biolink:NamedThing neonatal osteosclerotic dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93443|UMLS:C1300205|SCTID:389236000 owl:Class MONDO:0014150 biolink:NamedThing developmental and epileptic encephalopathy 94 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, childhood-onset|childhood-onset epileptic encephalopathy|CHCHD10-related disorders|CHD2 myoclonic encephalopathy|developmental and epileptic encephalopathy 94|childhood onset epileptic encephalopathy|DEE94|EEOC OMIM:615369|Orphanet:1942|DOID:0060475|GARD:0013197|Orphanet:2382|UMLS:C3809278 owl:Class UBERON:0017659 biolink:NamedThing ventral surface of penis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036215 biolink:NamedThing anatomical surface region tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000432 biolink:NamedThing conjunctival epithelial cell An epithelial cell that is part of the conjunctiva. tmpte7i6ely_mondo_relaxed.owl epithelial cell of conjunctiva FMA:70552 cell owl:Class CL:0002371 biolink:NamedThing somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). tmpte7i6ely_mondo_relaxed.owl FMA:72300|WBbt:0008378|BTO:0001268 tmeehan 2010-09-24T09:44:42Z cell owl:Class MONDO:0004013 biolink:NamedThing adult vagina botryoid embryonal rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults. tmpte7i6ely_mondo_relaxed.owl adult vagina botryoid rhabdomyosarcoma|adult sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults|adult botryoid-type embryonal rhabdomyosarcoma of the vagina NCIT:C40267|DOID:6848|UMLS:C1515893 Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma owl:Class MONDO:0004012 biolink:NamedThing adult botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpte7i6ely_mondo_relaxed.owl adult botryoid sarcoma|adult botryoid-type embryonal rhabdomyosarcoma|botryoid rhabdomyosarcoma of adults UMLS:C1332185|NCIT:C36099|DOID:6847 owl:Class HGNC:16817 biolink:NamedThing ESS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006979 biolink:NamedThing steatitis A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) tmpte7i6ely_mondo_relaxed.owl DOID:4025|UMLS:C0038235|SCTID:33882007|EFO:1001191|MESH:D013231 owl:Class MONDO:0006873 biolink:NamedThing nutritional deficiency disease A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) tmpte7i6ely_mondo_relaxed.owl malnutrition|malnourished SCTID:70241007|SCTID:363246002|MESH:D003677|ICD10:E40.E46|ICD9:269.9|DOID:5113|MedDRA:10046058|NCIT:C3669|ICD9:269.8|EFO:1001067 owl:Class MONDO:0003482 biolink:NamedThing Pediculus humanus corporis infestation A infectious disease involving the Pediculus humanus corporis. tmpte7i6ely_mondo_relaxed.owl Pediculus humanus corporis infection|infections, Pediculus humanus corporis|body louse infestation|Pediculus corporis|Pediculus corporis [body louse]|Pediculus humanus infestation DOID:5513|ICD9:132.1|UMLS:C0030758|SCTID:25188002|ICD10:B85.1 owl:Class MONDO:0003472 biolink:NamedThing lice infestation A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. tmpte7i6ely_mondo_relaxed.owl pediculosis|Pediculus humanus infection|pediculosis and Phthirus infection|infestation by Pediculus|louse infestation (& [pediculosis and Phthirus] or [lice])|pediculosis and Phthirus infections|pediculosis and Phthirus infestation|infections, Pediculus humanus|louse infestation|mixed pediculosis|pediculosis, unspecified|mixed pediculosis infestation|pediculosis + lice MESH:D010373|UMLS:C0030756|UMLS:C0153317|ICD10:B85.2|ICD9:132.9|UMLS:C0277351|NCIT:C128401|DOID:5502 owl:Class MONDO:0002975 biolink:NamedThing malignant breast melanoma A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of the breast|malignant melanoma of breast|breast melanoma|breast melanoma (disease)|malignant breast melanoma|melanoma (disease) of breast SCTID:188050009|NCIT:C8410|UMLS:C0346787|DOID:4364 owl:Class MONDO:0005105 biolink:NamedThing melanoma A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. tmpte7i6ely_mondo_relaxed.owl malignant melanoma|melanoma, malignant|melanoma|Naevocarcinoma|melanoma (disease) melanoma (disease) SCTID:372244006|DOID:1909|UMLS:CN971653|KEGG:05218|ICDO:8720/3|ONCOTREE:MEL|Orphanet:411533|NCIT:C3224|UMLS:C0025202|OMIM:155755|EFO:0000756|MESH:D008545|OMIM:155600|HP:0002861 owl:Class GO:0006837 biolink:NamedThing serotonin transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015850 biolink:NamedThing organic hydroxy compound transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. tmpte7i6ely_mondo_relaxed.owl organic alcohol transport owl:Class GO:0043233 biolink:NamedThing organelle lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031974 biolink:NamedThing membrane-enclosed lumen The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002871 biolink:NamedThing testicular trophoblastic tumor A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. tmpte7i6ely_mondo_relaxed.owl testicular trophoblastic tumor NCIT:C39934|DOID:4084|UMLS:C1515301 owl:Class MONDO:0002874 biolink:NamedThing testicular pure germ cell tumor A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor. tmpte7i6ely_mondo_relaxed.owl testicular Pure germ cell tumor DOID:4087|NCIT:C39915|UMLS:C1514608 owl:Class MONDO:0003879 biolink:NamedThing ovarian endometrioid adenocarcinofibroma A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma NCIT:C40060|DOID:6445|ICDO:8381/3|UMLS:C1518711 owl:Class MONDO:0008170 biolink:NamedThing ovarian cancer A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. tmpte7i6ely_mondo_relaxed.owl cancer of the ovary|malignant ovarian neoplasm|malignant tumour of ovary|malignant ovary neoplasm|malignant tumor of ovary|ovarian cancer, epithelial|ovarian malignant tumor|ovarian neoplasm|malignant ovarian tumor|ovarian cancer|malignant neoplasm of the ovary|primary ovarian cancer|malignant tumor of the ovary|malignant neoplasm of ovary|tumor of the ovary|cancer of ovary|ovary cancer|ovary neoplasm OMIM:167000|DOID:2394|SCTID:363443007|SCTID:123843001|Orphanet:213500|NCIT:C4984|MESH:D010051|OMIM:607893|ICD10:C56|ICD9:183.0|GARD:0007295|NCIT:C7431 owl:Class UBERON:0002115 biolink:NamedThing jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004921 biolink:NamedThing subdivision of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019470 biolink:NamedThing aggressive NK-cell leukemia A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. tmpte7i6ely_mondo_relaxed.owl aggressive NK-cell leukemia|aggressive NK-cell leukemia (morphologic abnormality)|natural Killer cell leukemia|NK cell leukemia|natural killer cell leukemia (disease)|natural killer cell leukemia|aggressive NK-cell leukemia/lymphoma|NK-cell LGL leukemia|aggressive NK-cell lymphoma|large granular lymphocyte leukemia, NK-cell type|ANKCL|leukemia (disease) of natural killer cell|NK-cell large granular lymphocyte leukemia|aggressive natural killer cell leukemia|ANKL|aggressive NK cell leukemia|NK-cell leukemia Orphanet:86873|ICD10:C94.8|DOID:1035|GARD:0010493|UMLS:C1522378|UMLS:C1292777|SCTID:721310007|ONCOTREE:ANKL|ICDO:9948/3|ICD10:C94.7|MedDRA:10028811|NCIT:C8647 https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia owl:Class MONDO:0000430 biolink:NamedThing mature T-cell and NK-cell non-Hodgkin lymphoma This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma. tmpte7i6ely_mondo_relaxed.owl mature T-cell non-Hodgkin's lymphoma|mature T-cell and NK-cell non-Hodgkin's lymphoma|mature T-and NK-cell lymphoma|mature T-cell and NK-cell lymphoma|mature T-cell and natural killer cell lymphoma|peripheral T-cell lymphoma|NK-T cell lymphoma|mature T-cell lymphoma|mature T-cell and NK-cell non-Hodgkin lymphoma|PTCL DOID:0050743|GARD:0007368|SCTID:109977009|MESH:D016411|ICDO:9702/3|NCIT:C3468|ICD10:C84.4|DOID:0050749 https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma owl:Class GO:1904480 biolink:NamedThing positive regulation of intestinal absorption Any process that activates or increases the frequency, rate or extent of intestinal absorption. tmpte7i6ely_mondo_relaxed.owl up-regulation of intestinal absorption|upregulation of intestinal absorption|activation of intestinal absorption|up regulation of intestinal absorption owl:Class MONDO:0018907 biolink:NamedThing craniopharyngioma A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl craniopharyngioma (WHO grade I)|craniopharyngioma (morphologic abnormality)|Dysodontogenic epithelial tumor|Adamantinomatous tumor|craniopharyngeal duct tumor|craniopharyngioma, benign|neoplasm of Rathke's pouch|Rathke's pouch tumor|Rathke's pouch neoplasm|Rathke pouch tumor|Rathke pouch neoplasm|cystoma|tumor of Rathke's pouch Orphanet:54595|NCIT:C2964|SCTID:189179009|ICD9:237.0|MedDRA:10011318|MESH:D003397|EFO:1000209|ICD10:D44.4|GARD:0010486|DOID:3840|ICDO:9350/1|UMLS:C0010276 owl:Class MONDO:0036976 biolink:NamedThing benign epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl benign epithelioma|benign neoplasm of the epithelium|benign epithelial neoplasm|benign epithelial tumor|epithelial neoplasm, benign|benign tumor of the epithelium|epithelioma, benign|benign neoplasm of epithelium|benign tumor of epithelium UMLS:C0334232|NCIT:C4092|ICDO:8011/0|ICDO:8010/0 owl:Class HGNC:6700 biolink:NamedThing LRP8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054738 biolink:NamedThing Fraser syndrome 2 tmpte7i6ely_mondo_relaxed.owl FRASRS2|Fraser syndrome 2 OMIM:617666|UMLS:C4540036|DOID:0111407 owl:Class MONDO:0009046 biolink:NamedThing Fraser syndrome Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. tmpte7i6ely_mondo_relaxed.owl Ulrich-Feichtiger syndrome|cryptophthalmos with Other malformations|cyclopism|cryptophthalmos-syndactyly syndrome|Fraser-Francois syndrome|cryptophthalmos syndrome|cryptophthalmos with other malformations|Meyer-Schwickerath's syndrome|Fraser syndrome OMIMPS:219000|UMLS:C0265233|DOID:0090001|MESH:D058497|GARD:0006465|ICD10:Q87.0|Orphanet:2052|SCTID:204102004|NCIT:C118436 https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome owl:Class MONDO:0017395 biolink:NamedThing fixed pigmented erythema tmpte7i6ely_mondo_relaxed.owl fixed drug eruption Orphanet:293812|SCTID:73692007|MedDRA:10048796 owl:Class UBERON:0003472 biolink:NamedThing cerebellar artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007600 biolink:NamedThing sensory perception The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050877 biolink:NamedThing nervous system process A organ system process carried out by any of the organs or tissues of neurological system. tmpte7i6ely_mondo_relaxed.owl neurophysiological process|pan-neural process|neurological system process owl:Class MONDO:0003433 biolink:NamedThing water-clear cell adenoma A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. tmpte7i6ely_mondo_relaxed.owl parathyroid gland water-clear cell adenoma|water-clear cell adenoma (morphologic abnormality) NCIT:C4155|UMLS:C0334321|ICDO:8322/0|DOID:5401 owl:Class MONDO:0004972 biolink:NamedThing adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl adenoma, benign|adenoma|adenomas|acinic cell adenoma|acinar cell adenoma|acinar cell adenoma (morphologic abnormality) NCIT:C2855|EFO:0000232|UMLS:C0001430|MESH:D000236|ICDO:8140/0|SCTID:443416007|DOID:657 Editor note: check status re benign owl:Class MONDO:0011907 biolink:NamedThing acrocapitofemoral dysplasia Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. tmpte7i6ely_mondo_relaxed.owl acrocapitofemoral dysplasia|ACFD Orphanet:63446|OMIM:607778|MESH:C564334|SCTID:720416007|ICD10:Q78.8|UMLS:C1843096|DOID:0050604|GARD:0010605 https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia owl:Class HGNC:19439 biolink:NamedThing KCNK18 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035592 biolink:NamedThing establishment of protein localization to extracellular region The directed movement of a protein to a specific location within the extracellular region. tmpte7i6ely_mondo_relaxed.owl establishment of protein localisation in extracellular region|establishment of protein localization in extracellular region owl:Class UBERON:0010697 biolink:NamedThing pedal digit metatarsal cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015036 biolink:NamedThing pedal digit metatarsal endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005309 biolink:NamedThing spinal fracture Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. tmpte7i6ely_mondo_relaxed.owl bone fracture of vertebral column|vertebral column bone fracture NCIT:C80516|MESH:D016103|EFO:0003902|SCTID:50448004 owl:Class MONDO:0005315 biolink:NamedThing bone fracture Breaks in bones. tmpte7i6ely_mondo_relaxed.owl fracture|fracture(s)|fracture of bone NCIT:C3046|MESH:D050723|EFO:0003931|SCTID:125605004 owl:Class MONDO:0016349 biolink:NamedThing congenital hydrocephalus Hydrocephalus that is present at birth. tmpte7i6ely_mondo_relaxed.owl congenital hydrocephalus|HYC3 UMLS:C0020256|SCTID:47032000|ICD10:Q03.0|MedDRA:10010506|ICD10:Q03|OMIM:236600|ICD10:Q03.1|NCIT:C98876|OMIM:615219|ICD10:Q03.9|ICD10:Q03.8|Orphanet:2185|OMIMPS:236600 owl:Class MONDO:0021147 biolink:NamedThing disorder of development or morphogenesis Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018205 biolink:NamedThing distal monosomy 1q 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. tmpte7i6ely_mondo_relaxed.owl telomeric deletion 1q|distal deletion 1q|monosomy 1qter|distal monosomy type 1q SCTID:717633007|ICD10:Q93.5|Orphanet:36367|UMLS:C4273897|OMIM:612337 owl:Class MONDO:0000508 biolink:NamedThing syndromic intellectual disability A intellectual disability that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with intellectual disability|syndromic intellectual disability UMLS:CN225415|DOID:0050888|OMIM:300486|OMIM:300860|OMIM:309583 owl:Class MONDO:0002107 biolink:NamedThing unilateral hyperactive labyrinth tmpte7i6ely_mondo_relaxed.owl hyperactive unilateral labyrinthine dysfunction|hyperactive labyrinth, unilateral DOID:1777|UMLS:C0155515|ICD9:386.51 owl:Class MONDO:0002467 biolink:NamedThing inner ear disorder A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. tmpte7i6ely_mondo_relaxed.owl vestibular disorder|inner Ear disorder|internal Ear disorder|labyrinthine disease|disorder of internal ear|internal ear disease or disorder|internal ear disease|disease of internal ear|disease or disorder of internal ear ICD10:H83.9|ICD10:H80.H83|ICD10:H80-H83|NCIT:C27166|MESH:D007759|ICD10:H83.90|DOID:2952|SCTID:232297009 owl:Class UBERON:0005297 biolink:NamedThing testis sex cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005295 biolink:NamedThing sex cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009532 biolink:NamedThing Miller-Dieker lissencephaly syndrome A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. tmpte7i6ely_mondo_relaxed.owl MDLS|telomeric deletion 17p|lissencephaly due to 17p13.3 deletion|monosomy 17p13.3|chromosome 17P13.3 deletion syndrome|Miller-Dieker syndrome|Miller-Dieker syndrome chromosome region|Miller-Dieker lissencephaly syndrome OMIM:247200|UMLS:C0265219|NCIT:C124852|ICD10:Q04.3|ICD9:758.33|GARD:0003669|MedDRA:10068361|DOID:0060469|SCTID:253148005|Orphanet:531 owl:Class MONDO:0022754 biolink:NamedThing chromosome 17p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. tmpte7i6ely_mondo_relaxed.owl deletion 17p syndrome|partial monosomy 17p|interstitial deletion 17p|17p deletion|del(17p)|partial monosomy of the short arm of chromosome 17|deletion 17p|17p monosomy|partial deletion of chromosome 17p|partial monosomy of the short arm of chromosome type 17|chromosome 17p deletion|monosomy 17p|17p- syndrome|chromosome 17p deletion syndrome|loss of chromosome 17p|partial monosomy of chromosome 17p|partial deletion of the short arm of chromosome 17 NCIT:C36499|GARD:0006075|MESH:C538045|Orphanet:261965|UMLS:CN036220|ICD10:Q93.5 Editor note: check this, MESH says 17 owl:Class MONDO:0032773 biolink:NamedThing uridine-cytidineuria tmpte7i6ely_mondo_relaxed.owl URIDINE-CYTIDINEURIA|URCTU OMIM:618477 owl:Class UBERON:0000924 biolink:NamedThing ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000923 biolink:NamedThing germ layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004748 biolink:NamedThing lip disorder A disease involving the lip. tmpte7i6ely_mondo_relaxed.owl lip disease or disorder|disease of lips|disease or disorder of lip|disease of lip|lip disease|lip disorder|disorder of lip ICD10:K13.0|MESH:D008047|UMLS:C0023760|ICD9:528.5|NCIT:C26818|SCTID:90678009|DOID:9297 owl:Class MONDO:0002051 biolink:NamedThing integumentary system disorder A disease involving the integumental system. tmpte7i6ely_mondo_relaxed.owl disorder of integument|disease of integumental system|integumental system disease or disorder|disease or disorder of integumental system|integumentary disease|integumental system disease|disorder of integumental system UMLS:C1290011|DOID:16|SCTID:128598002 MONDO:0045027 owl:Class MONDO:0011727 biolink:NamedThing anorexia nervosa, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl anon|AN|anorexia nervosa, susceptibility to, 1|ANON1|anorexia nervosa, susceptibility to UMLS:CN244557|OMIM:606788 owl:Class MONDO:0011702 biolink:NamedThing dilated cardiomyopathy 1L Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1L|SGCD familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in SGCD|CMD1L|dilated cardiomyopathy type 1L|cardiomyopathy, dilated, type 1L ICD10:I42.0|OMIM:606685|MESH:C564679|UMLS:C1847667|DOID:0110436 owl:Class MONDO:0016144 biolink:NamedThing qualitative or quantitative defects of delta-sarcoglycan tmpte7i6ely_mondo_relaxed.owl delta-sarcoglycanopathy UMLS:CN072428|GARD:0001799|Orphanet:207070 owl:Class UBERON:0004710 biolink:NamedThing pectoral appendage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004708 biolink:NamedThing paired limb/fin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009972 biolink:NamedThing respiratory underresponsiveness to hypoxia and hypercapnia tmpte7i6ely_mondo_relaxed.owl respiratory underresponsiveness to hypoxia and hypercapnia OMIM:267480|MESH:C564848 owl:Class MONDO:0042600 biolink:NamedThing Sammartino-Decreccio syndrome tmpte7i6ely_mondo_relaxed.owl Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality GARD:0000150 owl:Class MONDO:0002702 biolink:NamedThing ovarian cystadenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. tmpte7i6ely_mondo_relaxed.owl cystadenocarcinoma of the ovary|ovarian cystadenocarcinoma|cystadenocarcinoma of ovary|ovary cystadenocarcinoma UMLS:C1096638|SCTID:314191009|DOID:3605|EFO:1001962|NCIT:C5228 owl:Class NCBITaxon:356 biolink:NamedThing Hyphomicrobiales tmpte7i6ely_mondo_relaxed.owl Rhizobiaceae group|rhizobacteria|alpha-2 proteobacteria|Rhizobiales PMID:1854635|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:28211 biolink:NamedThing Alphaproteobacteria tmpte7i6ely_mondo_relaxed.owl Purple bacteria, alpha subdivision|alpha subdivision|alpha subgroup|a-proteobacteria|Proteobacteria alpha subdivision|alpha proteobacteria|Alphabacteria GC_ID:11|PMID:19060069|PMID:16403855|PMID:11541974|PMID:16166687|PMID:11837318 ncbi_taxonomy owl:Class MONDO:0003971 biolink:NamedThing gastric pylorus carcinoma A carcinoma that arises from the pylorus. tmpte7i6ely_mondo_relaxed.owl cancer of the gastric pylorus|carcinoma of the pylorus of the stomach|gastric pylorus carcinoma|carcinoma of pylorus of stomach|cancer of pylorus of stomach|cancer of the pylorus of the stomach|gastric pylorus cancer|carcinoma of gastric pylorus|cancer of gastric pylorus|carcinoma of the gastric pylorus|gastric pylorus (stomach) cancer DOID:6703|UMLS:C1333787|NCIT:C6795 owl:Class MONDO:0004950 biolink:NamedThing gastric carcinoma A carcinoma that arises from epithelial cells of the stomach. tmpte7i6ely_mondo_relaxed.owl gastric cancer|cancer of the stomach|Ca fundus - stomach|stomach cancer|malignant fundus of stomach neoplasm|gastric (stomach) cancer|cancer of fundus of stomach|carcinoma of the stomach|carcinoma of stomach|gastric carcinoma|gastric cancer, NOS|malignant tumor of fundus of stomach|gastric fundus cancer|fundus of stomach cancer|cancer of stomach|malignant neoplasm of fundus of stomach|stomach carcinoma UMLS:C0153420|UMLS:C0699791|ICD9:151.3|EFO:0000178|OMIM:613659|DOID:5517|ICD9:230.2|SCTID:187741001|NCIT:C4911|DOID:10538|ICD10:C16.1 owl:Class MONDO:0060486 biolink:NamedThing arthrogryposis multiplex congenita 1, neurogenic, with myelin defect tmpte7i6ely_mondo_relaxed.owl AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect OMIM:617468 owl:Class MONDO:0015168 biolink:NamedThing arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. tmpte7i6ely_mondo_relaxed.owl Guérin-Stern syndrome|fibrous ankylosis of multiple joints|congenital arthromyodysplasia|Rossi syndrome|myodystrophia fetalis deformans|AMC|Guerin-Stern syndrome|rocher-Sheldon syndrome|congenital amyoplasia|Arthromyodysplasia congenita|multiple congenital arthrogryposis|arthrogryposis multiplex congenita|amyoplasia congenita|myodysplasia|Otto syndrome Orphanet:1037|ICD10:Q74.3|GARD:0000777|MedDRA:10051643|OMIMPS:617468 owl:Class HGNC:31555 biolink:NamedThing MIR184 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035435 biolink:NamedThing right suprarenal vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015212 biolink:NamedThing lateral structure tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051047 biolink:NamedThing positive regulation of secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl stimulation of secretion|activation of secretion|up regulation of secretion|up-regulation of secretion|upregulation of secretion owl:Class GO:0008046 biolink:NamedThing axon guidance receptor activity Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance. tmpte7i6ely_mondo_relaxed.owl receptor activity involved in axon guidance owl:Class GO:0004888 biolink:NamedThing transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. tmpte7i6ely_mondo_relaxed.owl transmembrane receptor activity|transmembrane signalling receptor activity owl:Class MONDO:0017917 biolink:NamedThing maternally-inherited spastic paraplegia A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. tmpte7i6ely_mondo_relaxed.owl MT-ATP6-related mitochondrial spastic paraplegia|maternally-inherited SPG Orphanet:320360|ICD10:G11.4 owl:Class MONDO:0015150 biolink:NamedThing complex hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl complicated familial spastic paraplegia|Complex familial spastic paraplegia|Complex SPG|syndromic hereditary spastic paraplegia|syndrome associated with hereditary spastic paraplegia|complicated SPG|complicated hereditary spastic paraplegia|Complex HSP|complicated HSP UMLS:C0393556|UMLS:CN197491|ICD10:G11.4|SCTID:230261006|Orphanet:102013 owl:Class MONDO:0008168 biolink:NamedThing ovarian fibroma A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. tmpte7i6ely_mondo_relaxed.owl fibroma of ovary|ovarian fibroma (disease)|ovarian fibroma|fibroma of the ovary|ovarian fibromata ovarian fibroma (disease) NCIT:C3498|SCTID:254865006|OMIM:166970|MedDRA:10064257|HP:0010618|Orphanet:314473|MESH:C562391|ICD10:D27|UMLS:C0149951 owl:Class MONDO:0000646 biolink:NamedThing ovarian benign neoplasm A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the ovary|ovary benign neoplasm|benign tumor of the ovary|benign neoplasm of ovary|benign tumor of ovary|benign ovarian tumor|benign ovarian neoplasm NCIT:C2895|EFO:1000116|SCTID:92260003|DOID:0060112 owl:Class MONDO:0019580 biolink:NamedThing papular mucinosis of infancy Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. tmpte7i6ely_mondo_relaxed.owl cutaneous mucinosis of infancy UMLS:C4273966|Orphanet:90395|ICD10:L98.5|SCTID:717259002 owl:Class MONDO:0019446 biolink:NamedThing localized lichen myxedematosus Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. tmpte7i6ely_mondo_relaxed.owl papular mucinosis ICD10:L98.5|GARD:0007321|Orphanet:86795|UMLS:C0263390 owl:Class CL:0002351 biolink:NamedThing progenitor cell of endocrine pancreas A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. tmpte7i6ely_mondo_relaxed.owl pancreatic endocrine progenitor|pancreatic islet progenitor cell tmeehan 2010-09-21T04:41:06Z cell owl:Class CL:0000048 biolink:NamedThing multi fate stem cell A stem cell that can give rise to multiple lineages of cells. tmpte7i6ely_mondo_relaxed.owl multifate stem cell|multipotent cell|multipotent stem cell|multi-fate stem cell FMA:84789 cell owl:Class CL:1000601 biolink:NamedThing ureteral cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001116 cell owl:Class CL:0000548 biolink:NamedThing animal cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class ENVO:09200009 biolink:NamedThing structure of soil The structure of some soil. tmpte7i6ely_mondo_relaxed.owl soil structure owl:Class PATO:0000141 biolink:NamedThing structure A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. tmpte7i6ely_mondo_relaxed.owl conformation|relational structural quality owl:Class MONDO:0042726 biolink:NamedThing macrogyria, pseudobulbar palsy and intellectual disability tmpte7i6ely_mondo_relaxed.owl Kuzniecky Andermann syndrome GARD:0000174|MESH:C537722|UMLS:C2931598 owl:Class MONDO:0019537 biolink:NamedThing hemoglobin D disease Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). tmpte7i6ely_mondo_relaxed.owl Hb-D disease|hemoglobin D disease ICD9:282.7|SCTID:66729008|MedDRA:10055019|Orphanet:90039|NCIT:C35344|ICD10:D58.2|UMLS:C0272080|DOID:5378 owl:Class MONDO:0019050 biolink:NamedThing inherited hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. tmpte7i6ely_mondo_relaxed.owl Hemoglobinopathies / iron metabolism|hemoglobinopathies|hereditary hemoglobinopathy|hemoglobinopathy ICD10:D57.1|SCTID:80141007|MESH:D006453|ICD10:D58.1|ICD10:D56.8|ICD10:D57.2|MedDRA:10060892|ICD9:282.7|SCTID:427306008|ICD10:D57.3|ICD10:D57.8|ICD10:D56.1|ICD10:D56.3|UMLS:C1960031|ICD10:D58.9|ICD10:D58.0|ICD10:D56.9|UMLS:C0019045|NCIT:C3092|ICD10:D58.8|ICD10:D58.2|ICD10:D56.2|DOID:2860|ICD10:D57.0|Orphanet:68364|ICD10:D56.4|GARD:0012455|ICD10:D56.0 owl:Class MONDO:0013362 biolink:NamedThing THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations|BEAULIEU-BOYCOTT-Innes syndrome|Beaulieu-Boycott-Innes syndrome|BBIS|microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations ICD10:Q87.0|UMLS:C3150939|OMIM:613680|Orphanet:363444 owl:Class MONDO:0009099 biolink:NamedThing nephrogenic diabetes insipidus-intracranial calcification syndrome This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|Schofer Beetz Bohl syndrome|diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification|Schofer-Beetz-Bohl syndrome|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification SCTID:716200002|OMIM:221995|GARD:0000259|ICD10:N21.5|Orphanet:3145 https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification owl:Class MONDO:0009330 biolink:NamedThing hemangiopericytoma, malignant An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. tmpte7i6ely_mondo_relaxed.owl hemangiopericytoma, malignant|malignant hemangiopericytoma Orphanet:2126|NCIT:C4301|UMLS:C0334542|OMIM:234820|MESH:C562740|GARD:0002627|ICDO:9150/3 owl:Class MONDO:0005094 biolink:NamedThing hemangiopericytoma An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. tmpte7i6ely_mondo_relaxed.owl haemangiopericytic meningioma [obs]|malignant hemangiopericytoma|hemangiopericytoma|hemangiopericytoma, malignant (morphologic abnormality)|haemangiopericytic meningioma MESH:D006393|DOID:264|ICDO:9150/1|SCTID:134335004|NCIT:C3087 owl:Class GO:2000293 biolink:NamedThing negative regulation of defecation Any process that stops, prevents or reduces the frequency, rate or extent of defecation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013883 biolink:NamedThing congenital myasthenic syndrome 13 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, type 13|congenital myasthenic syndrome 13 with tubular aggregates|DPAGT1 congenital myasthenic syndromes with glycosylation defect|CMS13|myasthenic syndrome, congenital, 13|congenital myasthenic syndrome type 13|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|congenital myasthenic syndrome with tubular aggregates 2|CMSTA2|myasthenic syndrome, congenital, with tubular aggregates 2 UMLS:C3553645|Orphanet:353327|Orphanet:590|OMIM:614750|DOID:0110676 owl:Class MONDO:0000182 biolink:NamedThing congenital myasthenic syndrome with tubular aggregates A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, with tubular aggregates|CMS-TA UMLS:CN228621|OMIMPS:610542 owl:Class MONDO:0020692 biolink:NamedThing spondylocostal dysostosis 1, autosomal recessive tmpte7i6ely_mondo_relaxed.owl spondylothoracic dysostosis|SCDO1|spondylocostal dysostosis 1, autosomal recessive|vertebral anomalies|spondylothoracic dysplasia OMIM:277300 owl:Class MONDO:0010180 biolink:NamedThing autosomal recessive spondylocostal dysostosis Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. tmpte7i6ely_mondo_relaxed.owl Jarcho-Levin syndrome|SCDO1|spondylocostal dysostosis, autosomal recessive|costovertebral dysplasia|spondylocostal dysostosis 1, autosomal recessive OMIM:613686|Orphanet:2311|SCTID:61367005|OMIM:616566|ICD9:756.9|OMIM:609813|UMLS:CN032975|ICD10:Q76.8|MESH:C535781|OMIM:608681 owl:Class HGNC:9865 biolink:NamedThing RARB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004535 biolink:NamedThing childhood choriocarcinoma of the ovary A non-gestational choriocarcinoma that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl pediatric choriocarcinoma of the ovary|childhood ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|pediatric ovarian choriocarcinoma|childhood choriocarcinoma of ovary|choriocarcinoma of ovary of childhood DOID:8336|NCIT:C6549|UMLS:C1332987 owl:Class MONDO:0003760 biolink:NamedThing pediatric ovarian germ cell tumor A germ cell tumor that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl childhood ovarian germ cell neoplasm|ovarian germ cell tumor of childhood|pediatric ovarian germ cell tumor|pediatric ovarian germ cell neoplasm|ovarian germ cell tumor|childhood ovarian germ cell tumor UMLS:C0796664|DOID:6084|NCIT:C8588 owl:Class OBO:CHR_9606-chr9p1 biolink:NamedThing 9p1 (Human) tmpte7i6ely_mondo_relaxed.owl 43000000 33200000 hg38 owl:Class MONDO:0021490 biolink:NamedThing benign neoplasm of sebaceous gland A benign neoplasm that involves the sebaceous gland. tmpte7i6ely_mondo_relaxed.owl benign tumor of the sebaceous gland|benign tumor of sebaceous gland|benign neoplasm of the sebaceous gland|benign sebaceous neoplasm|benign sebaceous tumor|benign sebaceous skin tumor|sebaceous gland benign neoplasm|benign sebaceous skin neoplasm|benign sebaceous gland tumor|benign sebaceous gland neoplasm UMLS:C0684358|SCTID:92337009|NCIT:C8525 owl:Class MONDO:0006963 biolink:NamedThing sebaceous gland neoplasm A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma. tmpte7i6ely_mondo_relaxed.owl sebaceous neoplasm|neoplasm of sebaceous gland|tumor of sebaceous gland|sebaceous gland neoplasm (disease)|sebaceous gland neoplasm|sebaceous gland tumor|sebaceous tumor MESH:D012626|DOID:5759|EFO:1001172|SCTID:126491004|SCTID:92337009|UMLS:C3805742|UMLS:C0036503|NCIT:C3363|ICD9:239.2 owl:Class UBERON:0012367 biolink:NamedThing muscle layer of intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015541 biolink:NamedThing genetic hemophagocytic lymphohistiocytosis Genetic hemophagocytic lymphohistiocytosis. tmpte7i6ely_mondo_relaxed.owl familial hemophagocytic lymphohistiocytosis|genetic hemophagocytic syndrome|primary hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis Orphanet:540|MedDRA:10070904|OMIMPS:267700|SCTID:398250003|UMLS:C0272199|ICD9:238.79 owl:Class MONDO:0003778 biolink:NamedThing primary immunodeficiency disease A disorder in which the immune system is unable to mount an adequate immune response. tmpte7i6ely_mondo_relaxed.owl immunological deficiency syndrome|syndrome, immunological deficiency|hypoimmunity|deficiency syndromes, immunologic|syndrome, antibody deficiency|antibody deficiency syndromes|deficiency syndrome, immunological|deficiency syndrome, antibody|syndrome, immunologic deficiency|immunodeficiency syndrome|antibody deficiency syndrome|primary immunodeficiency|syndromes, immunologic deficiency|syndromes, antibody deficiency|deficiency syndrome, immunologic|deficiency syndromes, antibody|deficiency syndromes, immunological|immunologic deficiency syndrome|syndromes, immunological deficiency|immunological deficiency syndromes|immune deficiency disorder MESH:D007153|KEGG:05340|ICD9:279.3|ICD10:D84.9|SCTID:58606001|UMLS:C0398686|UMLS:C0021051|NCIT:C39725|OMIM:242850|SCTID:234532001|DOID:612|NCIT:C3131|Orphanet:101997 owl:Class MONDO:0019736 biolink:NamedThing dense deposit disease Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. tmpte7i6ely_mondo_relaxed.owl membranoproliferative glomerulonephritis type 2|membranoproliferative glomerulonephritis type II|glomerulonephritis membranoproliferative type 2|Mesangiocapillary glomerulonephritis type 2|MPGN 2 SCTID:722760002|OMIM:609814|GARD:0008555|NCIT:C123039|Orphanet:93571|ICD10:N04.6|UMLS:C0268743 owl:Class MONDO:0018013 biolink:NamedThing non-immunoglobulin-mediated membranoproliferative glomerulonephritis tmpte7i6ely_mondo_relaxed.owl non-Ig-mediated membranoproliferative glomerulonephritis|C3 glomerulopathy|non-Ig-mediated MPGN|non-immunoglobulin-mediated MPGN Orphanet:329918|OMIM:614809|OMIM:609814|ICD10:N00.5 owl:Class MONDO:0017574 biolink:NamedThing chronic intestinal pseudoobstruction Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. tmpte7i6ely_mondo_relaxed.owl chronic intestinal pseudo-obstruction|cipo|intestinal pseudo-obstruction, chronic ICD10:K59.8|Orphanet:2978|OMIM:300048|OMIM:601223|OMIM:243180|SCTID:235828008|GARD:0012744|OMIM:609629 https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction owl:Class MONDO:0021189 biolink:NamedThing intestinal motility disease A disease that has its basis in the disruption of intestinal motility. tmpte7i6ely_mondo_relaxed.owl disorder of intestinal motility owl:Class NCBITaxon:6236 biolink:NamedThing Rhabditida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:33251 ncbi_taxonomy owl:Class NCBITaxon:119089 biolink:NamedThing Chromadorea tmpte7i6ely_mondo_relaxed.owl Adenophorea GC_ID:1 NCBITaxon:27837 ncbi_taxonomy owl:Class MONDO:0004712 biolink:NamedThing herpes simplex dermatitis Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. tmpte7i6ely_mondo_relaxed.owl Herpes simplex dermatitis of eyelid|Simplexvirus caused dermatitis|Herpes simplex dermatitis|eczema herpeticum (disorder) [ambiguous]|eczema herpeticum|herpes simplex virus eyelid dermatitis|Herpes simplex eyelid dermatitis|Simplexvirus dermatitis|Herpes simplex virus dermatitis|herpes simplex dermatitis ICD9:054.0|SCTID:186535001|DOID:9123|NCIT:C35620|ICD10:B00.0|MESH:D007617|UMLS:C0854331|ICD9:054.41 owl:Class MONDO:0002406 biolink:NamedThing dermatitis An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. tmpte7i6ely_mondo_relaxed.owl inflammation of zone of skin|inflammation of skin|inflammatory skin disease|skin inflammation|zone of skin inflammation|inflammation of the skin DOID:2723|UMLS:C0011603|MESH:D003872|EFO:1000636|SCTID:43116000|NCIT:C2983|ICD10:L30.9|ICD9:692.9 owl:Class GO:0060084 biolink:NamedThing synaptic transmission involved in micturition The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. tmpte7i6ely_mondo_relaxed.owl synaptic transmission involved in urination owl:Class GO:0007274 biolink:NamedThing neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006506 biolink:NamedThing GPI anchor biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. tmpte7i6ely_mondo_relaxed.owl GPI/GSI anchor biosynthesis|GPI/GSI anchor biosynthetic process|GPI anchor anabolism|GPI anchor synthesis|glycosylphosphatidylinositol biosynthetic process|glycosylphosphatidylinositol biosynthesis|GPI anchor biosynthesis|GPI anchor formation owl:Class GO:0051785 biolink:NamedThing positive regulation of nuclear division Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpte7i6ely_mondo_relaxed.owl up-regulation of nuclear division|up regulation of nuclear division|stimulation of nuclear division|upregulation of nuclear division|activation of nuclear division owl:Class GO:0010638 biolink:NamedThing positive regulation of organelle organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpte7i6ely_mondo_relaxed.owl positive regulation of organelle organisation|positive regulation of organelle organization and biogenesis owl:Class GO:0006754 biolink:NamedThing ATP biosynthetic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. tmpte7i6ely_mondo_relaxed.owl ATP regeneration|ATP formation|ATP anabolism|ATP biosynthesis|ATP synthesis owl:Class GO:0046034 biolink:NamedThing ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. tmpte7i6ely_mondo_relaxed.owl ATP metabolism owl:Class MONDO:0003411 biolink:NamedThing breast hemangiopericytoma A hemangiopericytoma arising from the breast. tmpte7i6ely_mondo_relaxed.owl breast hemangiopericytoma|breast spindle cell tumor NCIT:C40396|UMLS:C1511313|DOID:5370 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0021100 biolink:NamedThing breast neoplasm A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. tmpte7i6ely_mondo_relaxed.owl neoplasm of breast|tumor of the breast|breast neoplasm (disease)|breast neoplasm|tumor of breast|neoplasm of the breast|neoplasm, breast|breast tumor NCIT:C2910|UMLS:CN236627|SCTID:126926005|MESH:D001943|EFO:0003869|ONCOTREE:BREAST|ICD9:239.3 owl:Class HGNC:23151 biolink:NamedThing FERMT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019137 biolink:NamedThing non-24-hour sleep-wake syndrome Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations. tmpte7i6ely_mondo_relaxed.owl circadian rhythm sleep disorder, free running type|non-24|hypernychthemeral syndrome|non 24 hour sleep wake disorder|circadian rhythm sleep disorder, free-running type ICD10:G47.2|ICD10:G47.24|SCTID:230496009|Orphanet:73267|GARD:0010949 owl:Class MONDO:0024361 biolink:NamedThing circadian rhythm sleep disorder A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV) tmpte7i6ely_mondo_relaxed.owl circadian sleep disorder|sleep-wake schedule disorder|disorders of the sleep-wake schedule NCIT:C95071|ICD9:327.30|SCTID:3745000|ICD10:G47.2 owl:Class MONDO:0016903 biolink:NamedThing partial deletion of the long arm of chromosome 4 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl monosomy 4q|4q monosomy|chromosome 4q deletion|partial deletion of the long arm of chromosome type 4|4q deletion|partial deletion of chromosome 4q|partial monosomy of the long arm of chromosome 4|partial monosomy of chromosome 4q|deletion 4q|partial monosomy 4q GARD:0001340|Orphanet:262029|MESH:C537639|ICD10:Q93.5 owl:Class MONDO:0016869 biolink:NamedThing partial deletion of chromosome 4 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 4|partial monosomy of chromosome 4 Orphanet:261781 owl:Class HP:0000568 biolink:NamedThing Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes. tmpte7i6ely_mondo_relaxed.owl Abnormally small eyeball|Microphthalmos|Nanophthalmos|Decreased size of globe of eye|Decreased size of eyeball|Abnormally small globe of eye Fyler:4877|UMLS:C0026010|SNOMEDCT_US:61142002|MSH:D008850|UMLS:C4280625|UMLS:C4280808|SNOMEDCT_US:204108000 HP:0007996 human_phenotype owl:Class HP:0100887 biolink:NamedThing Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). tmpte7i6ely_mondo_relaxed.owl Abnormality of eyeball size|Eye size difference UMLS:C4021945 doelkens 2011-12-13T04:25:29Z HP:0010725 human_phenotype owl:Class UBERON:0006230 biolink:NamedThing extrinsic ocular pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005865 biolink:NamedThing pre-muscle condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010505 biolink:NamedThing intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. tmpte7i6ely_mondo_relaxed.owl Scholte syndrome|SCHOLTE syndrome|early balding, patella luxation, acromicria, and hypogonadism|early balding, patella luxation, acromicria and hypogonadism|Scholte-Begeer-van Essen syndrome|SHLTS ICD10:Q87.8|SCTID:722002002|OMIM:300977|MESH:C536638|UMLS:C1866985|GARD:0000257|Orphanet:3041 owl:Class UBERON:0004085 biolink:NamedThing labium majora tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004084 biolink:NamedThing genital labium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904256 biolink:NamedThing positive regulation of iron ion transmembrane transporter activity Any process that activates or increases the frequency, rate or extent of an iron transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of iron transmembrane transporter activity|up regulation of iron channel activity|activation of iron channel activity|up regulation of iron cation channel activity|activation of iron cation channel activity|positive regulation of iron cation channel activity|up-regulation of iron cation channel activity|up-regulation of iron channel activity|positive regulation of iron-specific channel activity|up-regulation of iron-specific channel activity|positive regulation of iron channel activity|upregulation of iron cation channel activity|up regulation of iron-specific channel activity|activation of iron-specific channel activity|upregulation of iron channel activity|upregulation of iron-specific channel activity owl:Class GO:1904254 biolink:NamedThing regulation of iron ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl regulation of iron cation channel activity|regulation of iron-specific channel activity|regulation of iron channel activity owl:Class UBERON:0010379 biolink:NamedThing superior tarsal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000064 biolink:NamedThing ciliated cell A cell that has a filiform extrusion of the cell surface. tmpte7i6ely_mondo_relaxed.owl XAO:0000031|VHOG:0001532 cell owl:Class CL:0000003 biolink:NamedThing native cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). tmpte7i6ely_mondo_relaxed.owl cell in vivo CARO:0000013 To accommodate unicellular organisms better, 'cell in vivo' has been re-labeled 'native cell' to better represent its intended meaning - that is, that it is a cell in the context of a multicellular organism or in a natural environment. 'Native' is intended to contrast with 'in vitro', which refers to cells or other biological entities that have been intentionally placed in a controlled, non-natural setting for the purpose of study or manipulation. (MAH 1.12.12). cell owl:Class MONDO:0009529 biolink:NamedThing pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. tmpte7i6ely_mondo_relaxed.owl DLD deficiency|maple syrup urine disease, type 3|E3-deficient maple syrup urine disease|pyruvate dehydrogenase E3 deficiency|E3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|DLDD|maple syrup urine disease, type III|dihydrolipoamide dehydrogenase deficiency|Dld deficiency UMLS:CN043137|SCTID:29914000|Orphanet:2394|OMIM:246900|ICD10:E74.4|GARD:0003263|UMLS:C0268193|Orphanet:765 owl:Class MONDO:0018424 biolink:NamedThing inherited lipoic acid biosynthesis defect An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. tmpte7i6ely_mondo_relaxed.owl lipoic acid biosynthesis defects|lipoic acid biosynthesis defect|lipoate biosynthesis defect|inborn lipoate biosynthetic process disorder|inborn error of lipoate biosynthetic process|rare inborn error of lipoate biosynthetic process Orphanet:401854|ICD10:E88.8|GARD:0012679 owl:Class NCBITaxon:2509487 biolink:NamedThing Igacovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694013 biolink:NamedThing Gammacoronavirus tmpte7i6ely_mondo_relaxed.owl Coronavirus group 3|Coronavirus|Group 3 species GC_ID:1 NCBITaxon:156440 ncbi_taxonomy owl:Class MONDO:0017283 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion tmpte7i6ely_mondo_relaxed.owl Del(10)(p11.21p12.31)|10p12p11 microdeletion syndrome|monosomy 10p11.21p12.31|deletion 10p11.21p12.31 OMIM:616708|UMLS:CN202845|ICD10:Q83.5|Orphanet:284169 owl:Class MONDO:0014741 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation tmpte7i6ely_mondo_relaxed.owl chromosome 10P12-p11 deletion syndrome|developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities|DESANTO-SHINAWI syndrome|Desanto-Shinawi syndrome|DESSH OMIM:616708|UMLS:C4225239|UMLS:CN242167|Orphanet:466950 owl:Class HGNC:30500 biolink:NamedThing PRRT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003266 biolink:NamedThing ependymal tumor A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO) tmpte7i6ely_mondo_relaxed.owl ependymal tumors|ependymal tumor|ependymomal tumor|ependymal neoplasm UMLS:C1333407|ICD10:C71.7|UMLS:CN203416|UMLS:C0014474|EFO:1000027|Orphanet:301|NCIT:C6770|ONCOTREE:EPMT|OMIM:137800 owl:Class MONDO:0021042 biolink:NamedThing glioma A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. tmpte7i6ely_mondo_relaxed.owl glial tumor|neuroglial tumor|neuroglial neoplasm|tumor of the neuroglia|tumor of neuroglia|neoplasm of neuroglia|glioma|glial neoplasm|neoplasm of the neuroglia SCTID:393564001|UMLS:C0017638|GARD:0006513|NCIT:C3059|Orphanet:182067|MESH:D005910 owl:Class GO:0033674 biolink:NamedThing positive regulation of kinase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl kinase activator|up-regulation of kinase activity|stimulation of kinase activity|upregulation of kinase activity|up regulation of kinase activity owl:Class GO:0051347 biolink:NamedThing positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpte7i6ely_mondo_relaxed.owl transferase activator|up regulation of transferase activity|up-regulation of transferase activity|stimulation of transferase activity|activation of transferase activity|upregulation of transferase activity owl:Class MONDO:0014962 biolink:NamedThing intellectual disability, autosomal recessive 57 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene. tmpte7i6ely_mondo_relaxed.owl MRT57|intellectual disability, autosomal recessive type 57|mental retardation, autosomal recessive 57|mental retardation, autosomal recessive type 57|intellectual disability, autosomal recessive 57|MBOAT7 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7 UMLS:C4310673|OMIM:617188 owl:Class CL:1001319 biolink:NamedThing bladder cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001120 cell owl:Class UBERON:0000459 biolink:NamedThing uterine wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005156 biolink:NamedThing reproductive structure tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010769 biolink:NamedThing regulation of cell morphogenesis involved in differentiation Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000317 biolink:NamedThing aquatic environment An environment whose dynamics are strongly influenced by water. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000998 biolink:NamedThing environmental system determined by a material An environmental system within which an environmental material strongly influences the system's composition and properties. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015849 biolink:NamedThing organic acid transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071702 biolink:NamedThing organic substance transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004822 biolink:NamedThing bronchiectasis Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. tmpte7i6ely_mondo_relaxed.owl Polynesian bronchiectasis OMIM:613071|ICD10:J47|OMIM:211400|ICD9:494|Orphanet:60033|ICD10:J47.9|OMIM:613021|SCTID:12295008|DOID:9563|MESH:D001987|UMLS:C0006267|OMIMPS:211400|NCIT:C84475 owl:Class MONDO:0005002 biolink:NamedThing chronic obstructive pulmonary disease A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. tmpte7i6ely_mondo_relaxed.owl cold (chronic obstructive lung disease)|COPD|COPD, chronic obstructive pulmonary disease|obstructive lung disease, chronic|chronic obstructive airway disease|cold|disease (COPD), chronic obstructive|pulmonary disease (COPD), chronic obstructive|chronic obstructive lung disease|chronic obstructive pulmonary disease (COPD)|obstructive pulmonary disease (COPD), chronic|chronic obstructive pulmonary disease, (COPD)|chronic obstructive airways disease NCIT:C3199|ICD9:490-496.99|ICD10:J44.9|OMIM:606963|DOID:3083|MESH:D029424|SCTID:13645005|EFO:0000341|ICD9:496 owl:Class MONDO:0018579 biolink:NamedThing disorder of ketone body transport tmpte7i6ely_mondo_relaxed.owl disorder of keton body transport|disorder of ketone body transport UMLS:CN237600|Orphanet:438072 owl:Class MONDO:0019223 biolink:NamedThing inborn disorder of fatty acid oxidation and ketone body metabolism tmpte7i6ely_mondo_relaxed.owl disorder of fatty acid oxidation and ketone body metabolism Orphanet:79174|ICD10:E71.3|UMLS:CN227590 owl:Class HP:0001871 biolink:NamedThing Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. tmpte7i6ely_mondo_relaxed.owl Hematological abnormality|Haematological abnormality|Abnormality of the haematopoietic system|Abnormality of blood and blood-forming tissues|Hematologic disease|Abnormality of the hematopoietic system SNOMEDCT_US:34093004|MSH:D006402|UMLS:C4020864|SNOMEDCT_US:191124002|UMLS:C0850715|UMLS:C0018939 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. HP:0003135 human_phenotype owl:Class MONDO:0008699 biolink:NamedThing achalasia microcephaly syndrome Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. tmpte7i6ely_mondo_relaxed.owl achalasia-microcephaly syndrome|achalasia microcephaly DOID:0050796|GARD:0000456|Orphanet:929|ICD10:Q39.5|MESH:C536010|SCTID:718573009|UMLS:C1860212|OMIM:200450 https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome owl:Class MONDO:0031013 biolink:NamedThing autoimmune optic neuritis An autoimmune form of optic neuritis. tmpte7i6ely_mondo_relaxed.owl DOID:0040089 owl:Class MONDO:0000590 biolink:NamedThing autoimmune disorder of peripheral nervous system A hypersensitivity reaction type II disease that involves the peripheral nervous system. tmpte7i6ely_mondo_relaxed.owl peripheral nervous system autoimmune disease|peripheral nervous system hypersensitivity reaction type II disease DOID:0060033 owl:Class MONDO:0036870 biolink:NamedThing lymphatic vessel neoplasm A benign or malignant neoplasm arising from the lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl tumor of the lymph vessel|neoplasm of the lymphatic vessel|lymph vessel tumor|lymphatic vessel neoplasm|lymphatic vessel tumor|tumor of the lymphatic vessel|neoplasm of lymphatic vessel|lymph vessel neoplasm|tumor of lymph vessel|neoplasm of the lymph vessel|neoplasm of lymph vessel|tumor of lymphatic vessel NCIT:C3723|UMLS:C0206619 owl:Class MONDO:0024296 biolink:NamedThing vascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. tmpte7i6ely_mondo_relaxed.owl vascular tissue tumor|neoplasm of vascular system|tumor of vascular system|vascular tissue neoplasm|neoplasms, vascular|vascular system neoplasm (disease)|tumor of vascular tissue|vascular neoplasm|tumors, vascular|vascular tumors|vascular system tumor|neoplasm of vascular tissue|vascular neoplasms|vascular tumor|vascular system neoplasm NCIT:C7388 owl:Class MONDO:0010153 biolink:NamedThing trichoodontoonychial dysplasia Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl trichoodontoonychial dysplasia with bone deficiency|trichoodontoonychial dysplasia with bone deficiency in frontoparietal region MESH:C564760|GARD:0005267|UMLS:C3502453|SCTID:766813000|Orphanet:3355|OMIM:275450 https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia owl:Class GO:0048582 biolink:NamedThing positive regulation of post-embryonic development Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpte7i6ely_mondo_relaxed.owl upregulation of post-embryonic development|up regulation of post-embryonic development|stimulation of post-embryonic development|activation of post-embryonic development|up-regulation of post-embryonic development owl:Class MONDO:0010176 biolink:NamedThing orofaciodigital syndrome type 6 Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome VI|oral-facial-digital syndrome type 6|Ofds 6|polydactyly-cleft lip/palate-psychomotor retardation syndrome|oral-Facial-digital syndrome, type 6|Joubert syndrome with oral-facial-digital syndrome|Joubert syndrome with orofaciodigital defect|Váradi syndrome|Varadi-Papp syndrome|Varadi syndrome|orofaciodigital syndrome 6|OFD6|polydactyly - cleft lip/palate - psychomotor retardation|Váradi-Papp syndrome|polydactyly cleft lip palate psychomotor retardation|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|orofaciodigital syndrome type 6 UMLS:C2745997|Orphanet:2754|MESH:C536531|DOID:0060376|OMIM:277170|OMIM:300804|SCTID:721873007|OMIM:615665|ICD10:Q04.3|GARD:0004412|OMIM:617127|NCIT:C124841|OMIM:614815 https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation owl:Class UBERON:0004199 biolink:NamedThing S-shaped body tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005423 biolink:NamedThing developing anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012506 biolink:NamedThing arrhythmogenic right ventricular dysplasia 11 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|arrhythmogenic right ventricular dysplasia, familial, 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|arrhythmogenic right ventricular dysplasia, familial, type 11|ARVD11|arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia type 11|arrhythmogenic right ventricular cardiomyopathy 11|ARVC11 OMIM:610476|Orphanet:217656|MESH:C566471|ICD10:I42.8|DOID:0110082 owl:Class MONDO:0016342 biolink:NamedThing familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. tmpte7i6ely_mondo_relaxed.owl familial isolated arrhythmogenic right ventricular dysplasia|familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated arrhythmogenic ventricular dysplasia|familial isolated ARVD|familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC UMLS:C4274968|UMLS:CN226907|OMIM:611528|OMIM:604400|OMIM:107970|OMIM:615616|OMIM:607450|OMIMPS:107970|OMIM:609040|OMIM:610193|SCTID:715865008|OMIM:600996|OMIM:610476|Orphanet:217656|OMIM:602086|OMIM:604401|ICD10:I42.8|OMIM:602087 owl:Class CL:0002339 biolink:NamedThing prostate stem cell A prostate epithelial cell that is CD133-positive, CD44-positive, integrin A2beta3-high. This cell is a stem cell for the prostate epithelium. tmpte7i6ely_mondo_relaxed.owl CD133-positive prostate epithelial cell tmeehan 2010-09-20T03:21:06Z cell owl:Class CL:0000034 biolink:NamedThing stem cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpte7i6ely_mondo_relaxed.owl FMA:63368|CALOHA:TS-2086 cell owl:Class MONDO:0009493 biolink:NamedThing Richards-Rundle syndrome Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. tmpte7i6ely_mondo_relaxed.owl ataxia-deafness-intellectual disability syndrome|ketoaciduria-mental deficiency syndrome|ataxia-deafness-retardation syndrome with ketoaciduria|ataxia-deafness-mental retardation syndrome|RICHARDS-RUNDLE syndrome|ketoaciduria-intellectual disability-ataxia-deafness syndrome|Richards-Rundle syndrome|ketoaciduria - intellectual disability - ataxia - deafness|RRNS|familial ataxia-hypogonadism syndrome MESH:C535674|Orphanet:1399|SCTID:715415005|GARD:0008423|UMLS:C0796136|OMIM:245100|ICD10:G60.2 owl:Class MONDO:0100309 biolink:NamedThing hereditary ataxia An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. tmpte7i6ely_mondo_relaxed.owl rare hereditary ataxia|SCA GARD:0006614|MESH:C531684|ICD10:G11|GARD:0010748|SCTID:763597000|DOID:0050951|Orphanet:183518 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia owl:Class MONDO:0016781 biolink:NamedThing maternal 14q32.2 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl maternal del(14)(q32.2)|maternal monosomy 14q32.2 ICD10:Q93.5|UMLS:CN202037|Orphanet:254528 owl:Class MONDO:0000200 biolink:NamedThing Zimmermann-Laband syndrome Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. tmpte7i6ely_mondo_relaxed.owl fibromatosis gingival, hepatosplenomegaly other anomalies|Laband-Zimmermann syndrome|ZLS1|Laband syndrome|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|Zimmermann-Laband syndrome 1|ZLS|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|Zimmerman Laband syndrome|Zimmermann-Laband syndrome type 1 GARD:0000385|OMIM:616455|OMIM:135500|SCTID:699447001|MESH:C536725|ICD10:Q87.8|ICD9:759.89|UMLS:C0796013|Orphanet:3473|OMIMPS:135500 owl:Class MONDO:0012393 biolink:NamedThing congenital brain dysgenesis due to glutamine synthetase deficiency tmpte7i6ely_mondo_relaxed.owl inherited glutamine synthetase deficiency|glutamine synthase deficiency, congenital systemic|congenital glutamine deficiency|glutamine synthetase deficiency, congenital systemic|glutamine deficiency, congenital|congenital brain dysgenesis due to glutamine synthetase deficiency|inherited GS deficiency OMIM:610015|UMLS:C1864910|GARD:0009848|Orphanet:71278|ICD10:E72.8|MESH:C536832 owl:Class MONDO:0003881 biolink:NamedThing vulvar apocrine adenocarcinoma An apocrine adenocarcinoma that arises from the sweat glands in the vulva. tmpte7i6ely_mondo_relaxed.owl mammalian vulva apocrine adenocarcinoma|apocrine adenocarcinoma of mammalian vulva|vulvar apocrine adenocarcinoma UMLS:C2202741|DOID:6448|NCIT:C40308 owl:Class MONDO:0003214 biolink:NamedThing apocrine adenocarcinoma A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course. tmpte7i6ely_mondo_relaxed.owl carcinoma of apocrine gland|apocrine gland adenocarcinoma|apocrine adenocarcinoma (morphologic abnormality)|carcinoma of the apocrine gland|apocrine gland carcinoma|apocrine carcinoma NCIT:C4169|UMLS:C0334346|GARD:0012138|ICDO:8401/3|DOID:4933|UMLS:C1706827 owl:Class MONDO:0013856 biolink:NamedThing hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes tmpte7i6ely_mondo_relaxed.owl hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes UMLS:C3553465|OMIM:614684 owl:Class MONDO:0019925 biolink:NamedThing paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpte7i6ely_mondo_relaxed.owl paternal uniparental disomy of chromosome type 21|UPD(21)pat SCTID:766720000|Orphanet:96195|ICD10:Q99.8 owl:Class MONDO:0700124 biolink:NamedThing chromosome 21 disorder Chromosomal disorder in which chromosome 21 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007876 biolink:NamedThing laryngeal abductor paralysis tmpte7i6ely_mondo_relaxed.owl Labd|familial vocal cord dysfunction|vocal cord dysfunction familial|vocal cord dysfunction, familial|Gerhardt syndrome|laryngeal abductor paralysis OMIM:150260|Orphanet:2808|ICD9:748.3|SCTID:232442001|ICD10:J38.0|UMLS:CN202762|GARD:0005509 Autosomal dominant based on information from Joanna. owl:Class MONDO:0018562 biolink:NamedThing genetic otorhinolaryngological malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:435603 owl:Class MONDO:0011027 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 1 tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, 1|NIDDM1|noninsulin-dependent diabetes mellitus 1|diabetes mellitus, noninsulin-dependent, type 1 MESH:C563359|UMLS:C1832544|OMIM:601283 owl:Class GO:0106014 biolink:NamedThing regulation of inflammatory response to wounding Any process that modulates the frequency, rate or extent of the inflammatory response to wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002970 biolink:NamedThing ciliary body disorder A disease involving the ciliary body. tmpte7i6ely_mondo_relaxed.owl disorder of ciliary body|ciliary body disease|disease or disorder of ciliary body|ciliary body disease or disorder|disease of ciliary body|ciliary body disorder NCIT:C35775|DOID:4353|UMLS:C0271100|SCTID:68575007 owl:Class GO:0030212 biolink:NamedThing hyaluronan metabolic process The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. tmpte7i6ely_mondo_relaxed.owl hyaluronan metabolism owl:Class GO:1903510 biolink:NamedThing mucopolysaccharide metabolic process The chemical reactions and pathways involving mucopolysaccharide. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharide metabolism owl:Class GO:0032109 biolink:NamedThing positive regulation of response to nutrient levels Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. tmpte7i6ely_mondo_relaxed.owl stimulation of response to nutrient levels|up-regulation of response to nutrient levels|up regulation of response to nutrient levels|activation of response to nutrient levels|upregulation of response to nutrient levels owl:Class GO:0032106 biolink:NamedThing positive regulation of response to extracellular stimulus Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. tmpte7i6ely_mondo_relaxed.owl up regulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|activation of response to extracellular stimulus|stimulation of response to extracellular stimulus|upregulation of response to extracellular stimulus owl:Class MONDO:0007145 biolink:NamedThing aplasia cutis congenita Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. tmpte7i6ely_mondo_relaxed.owl aplasia cutis congenita recessive|scalp defect congenital|ACC|scalp defect, congenital|aplasia cutis congenita|congenital defect of skull and scalp|aplasia cutis congenita (disease)|aplasia cutis congenita, nonsyndromic|aplasia cutis congenita nonsyndromic aplasia cutis congenita (disease) GARD:0000755|OMIM:107600|SCTID:35484002|NCIT:C98822|HP:0001057|ICD10:Q84.8|ICD9:757.39|GARD:0005835|Orphanet:1114 owl:Class MONDO:0024255 biolink:NamedThing genetic skin disease An instance of skin disease that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic skin diseases|disease, genetic skin|genetic skin disease|genodermatosis|diseases, genetic skin|skin disease, genetic SCTID:239001006|MESH:D012873 owl:Class MONDO:0008988 biolink:NamedThing citrullinemia type I Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). tmpte7i6ely_mondo_relaxed.owl argininosuccinic acid synthetase deficiency|Citrullinuria|citrullinemia 1|citrullinemia, type 1|CTLN1|argininosuccinic acid synthase deficiency|citrullinemia type I|argininosuccinate synthetase deficiency|citrullinemia, classic|argininosuccinate synthase deficiency|classic citrullinemia|citrullinemia type 1|ASS deficiency|CTNL1 OMIM:215700|DOID:0070340|SCTID:398680004|UMLS:C0175683|ICD10:E72.2|Orphanet:247525|GARD:0006114|MedDRA:10058298|NCIT:C150601 owl:Class MONDO:0015991 biolink:NamedThing citrullinemia Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). tmpte7i6ely_mondo_relaxed.owl deficiency of citrulline-aspartate ligase|ass deficiency OMIM:603471|NCIT:C84639|MESH:D020159|SCTID:398680004|UMLS:C0175683|ICD10:E72.2|OMIM:215700|SCTID:124711003|ICD10:E72.23|DOID:9273|OMIM:605814|Orphanet:187 owl:Class MONDO:0011633 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2C|HMSN 2C|autosomal dominant Charcot-Marie-Tooth disease type 2C|HMSN 2 C|Charcot-Marie-Tooth disease, axonal, type 2C|autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy, type IIC|HMSN2C|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|hereditary motor and sensory neuropathy, type 2C|hereditary motor and sensory neuropathy 2 C|Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy type IIc|Charcot-Marie-Tooth neuropathy, type 2C|CMT2C|Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|TRPV4 Charcot-Marie-Tooth disease type 2|CMT 2C|Charcot Marie Tooth disease type 2C SCTID:717010007|ICD10:G60.0|OMIM:606071|GARD:0001250|DOID:0110182|Orphanet:99937 https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c owl:Class MONDO:0018993 biolink:NamedThing Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth type 2|hereditary motor and sensory neuropathy type 2|hereditary motor and sensory neuropathy Guadalajara neuronal type|autosomal dominant axonal Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2|CMT2|hereditary motor and sensory neuropathy Okinawa type DOID:0050539|Orphanet:64746|OMIM:118230|ICD9:356.0|OMIM:604484|GARD:0012431|ICD10:G60.0|SCTID:715665006 owl:Class MONDO:0700013 biolink:NamedThing chromosome 6 disorder Chromosomal disorder in which chromosome 6 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0054732 biolink:NamedThing spermatogenic failure 28 tmpte7i6ely_mondo_relaxed.owl SPGF28|spermatogenic failure 28 OMIM:618086 owl:Class MONDO:0013780 biolink:NamedThing retinitis pigmentosa 63 A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 63|retinitis pigmentosa type 63|RP63 DOID:0110385|ICD10:H35.5|OMIM:614494|UMLS:C3281002|Orphanet:791 owl:Class GO:0097722 biolink:NamedThing sperm motility Any process involved in the controlled movement of a sperm cell. tmpte7i6ely_mondo_relaxed.owl sperm movement owl:Class GO:0048870 biolink:NamedThing cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. tmpte7i6ely_mondo_relaxed.owl cell movement|movement of a cell|cell locomotion owl:Class GO:0060590 biolink:NamedThing ATPase regulator activity Binds to and modulates the activity of an ATP hydrolysis activity. tmpte7i6ely_mondo_relaxed.owl ATP hydrolysis regulator activity owl:Class ECTO:9001699 biolink:NamedThing exposure to fuel An exposure to fuel. tmpte7i6ely_mondo_relaxed.owl exposure to fuel owl:Class MONDO:0032799 biolink:NamedThing mitochondrial DNA depletion syndrome 16 (hepatic type) tmpte7i6ely_mondo_relaxed.owl MTDPS16|MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) OMIM:618528 owl:Class MONDO:0030900 biolink:NamedThing intellectual developmental disorder with paroxysmal dyskinesia or seizures tmpte7i6ely_mondo_relaxed.owl IDDPADS OMIM:619150 owl:Class CHEBI:51689 biolink:NamedThing enone An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position. tmpte7i6ely_mondo_relaxed.owl enones owl:Class CHEBI:78840 biolink:NamedThing olefinic compound Any organic molecular entity that contains at least one C=C bond. tmpte7i6ely_mondo_relaxed.owl olefinic compounds owl:Class MONDO:0021210 biolink:NamedThing trachea neoplasm A neoplasm (disease) that involves the trachea. tmpte7i6ely_mondo_relaxed.owl neoplasm of trachea|tumor of the trachea|tracheal tumor|trachea neoplasm (disease)|tracheal neoplasm|trachea tumor|tumor of trachea|neoplasm of the trachea GTR:AN0505660|HP:0100551|EFO:1001437|NCIT:C3419|UMLS:C0040582|GTR:AN0481062|MESH:D014134 owl:Class MONDO:0002567 biolink:NamedThing tracheal disorder A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl disease of trachea|trachea disease or disorder|disorder of trachea|tracheal disorder|disease or disorder of trachea|trachea disease MESH:D014133|ICD10:S12.8|NCIT:C35079|UMLS:C0040580|SCTID:47125007|DOID:3225 owl:Class MONDO:0020132 biolink:NamedThing cranial nerve and nuclear aplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:98518 owl:Class MONDO:0030707 biolink:NamedThing Trichomonas balanoposthitis tmpte7i6ely_mondo_relaxed.owl Trichomonas balanoposthitis UMLS:C0341769|NCIT:C35406 owl:Class GO:0033602 biolink:NamedThing negative regulation of dopamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. tmpte7i6ely_mondo_relaxed.owl down regulation of dopamine secretion|down-regulation of dopamine secretion|downregulation of dopamine secretion|inhibition of dopamine secretion owl:Class GO:0014059 biolink:NamedThing regulation of dopamine secretion Any process that modulates the frequency, rate or extent of the regulated release of dopamine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001396 biolink:NamedThing abnormal threshold of rods tmpte7i6ely_mondo_relaxed.owl abnormal dark adaptation curve SCTID:50455002|ICD9:368.63|DOID:11874|UMLS:C0155019|ICD10:H53.61 owl:Class MONDO:0004895 biolink:NamedThing accommodative esotropia tmpte7i6ely_mondo_relaxed.owl SCTID:419494007|ICD10:H50.43|ICD9:378.35|DOID:9839|UMLS:C0155336 owl:Class MONDO:0004896 biolink:NamedThing esotropia A form of strabismus in which one or both eyes are deviated medially. tmpte7i6ely_mondo_relaxed.owl internal strabismus|crossed eyes|convergence in manifest squint GARD:0008235|UMLS:C0014877|ICD10:H50.0|MESH:D004948|DOID:9840|ICD9:378.00|SCTID:16596007|ICD9:378.0|NCIT:C34596|ICD10:H50.00 https://rarediseases.info.nih.gov/diseases/8235/esotropia owl:Class MONDO:0018185 biolink:NamedThing congenital anomaly of the great veins tmpte7i6ely_mondo_relaxed.owl Orphanet:363189 owl:Class MONDO:0019063 biolink:NamedThing vascular anomaly tmpte7i6ely_mondo_relaxed.owl vascular anomaly or angioma Orphanet:68419 Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 owl:Class MONDO:0030992 biolink:NamedThing short stature, oligodontia, dysmorphic facies, and motor delay tmpte7i6ely_mondo_relaxed.owl SOFM OMIM:619234 owl:Class MONDO:0015393 biolink:NamedThing nasal ganglioglioma Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. tmpte7i6ely_mondo_relaxed.owl Orphanet:141115 owl:Class MONDO:0024623 biolink:NamedThing otorhinolaryngologic disease Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. tmpte7i6ely_mondo_relaxed.owl disease, ENT|otolaryngological diseases|ear, nose or throat disorder|disease, otolaryngologic|disease, otorhinolaryngological|diseases, otorhinolaryngologic|otolaryngological disease|ear, nose and throat disorder|ear/nose/throat disease|ENT diseases|disease, otorhinolaryngologic|disease, otolaryngological|otolaryngologic disease|diseases, otorhinolaryngological|otorhinolaryngologic disease|otorhinolaryngological diseases|otolaryngologic diseases|otolaryngologic disorder|otorhinolaryngological disease|ENT disease|diseases, ENT|diseases, otolaryngologic|diseases, otolaryngological ICD9:478.19|NCIT:C118420|MESH:D010038|UMLS:C0029896|UMLS:C0395797|SCTID:232208008 Editor note: consider uberon class owl:Class MONDO:0100051 biolink:NamedThing idiopathic mast cell activation syndrome Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable. tmpte7i6ely_mondo_relaxed.owl idiopathic MACS 2018-07-17 21:46:53+00:00 owl:Class MONDO:0700007 biolink:NamedThing idiopathic disease A disease or disorder for which the cause is of uncertain or unknown. tmpte7i6ely_mondo_relaxed.owl idiopathic disorder http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3169 owl:Class HGNC:7381 biolink:NamedThing MST1R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009232 biolink:NamedThing Fuhrmann syndrome Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. tmpte7i6ely_mondo_relaxed.owl fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|Fuhrmann-Rieger-de Sousa syndrome|Fuhrmann syndrome|bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies GARD:0002410|MESH:C538189|OMIM:228930|UMLS:C1856728|Orphanet:2854|ICD10:Q74.8|DOID:0090067|SCTID:721296004 https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome owl:Class MONDO:0005538 biolink:NamedThing proctitis An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. tmpte7i6ely_mondo_relaxed.owl rectitis|anus inflammation|inflammation of anus NCIT:C38011|SCTID:3951002|UMLS:C0033246|EFO:0005628|DOID:3127|MESH:D011349|ICD9:569.49|ICD10:K62.89 owl:Class MONDO:0005265 biolink:NamedThing inflammatory bowel disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease|IBD|autoimmune bowel disorder DOID:0050589|KEGG:05321|OMIM:612244|EFO:0003767|OMIM:612278|OMIM:611081|UMLS:C0021390|SCTID:24526004|MESH:D015212|OMIM:608448|ICD9:558.9|NCIT:C3138|OMIM:612261|OMIM:612245|OMIMPS:266600 owl:Class MONDO:0100250 biolink:NamedThing 46,XX sex reversal 1 tmpte7i6ely_mondo_relaxed.owl SRXX1|46,XX Sex reversal type 1|ovotesticular DSD|46,XX SEX reversal 1|46,XX Sex reversal, SRY-positive|46,XX gonadal dysgenesis, complete, SRY-positive|46,XX true hermaphroditism, SRY-positive|ovotesticular disorder of Sex development OMIM:400045 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100249 biolink:NamedThing 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. tmpte7i6ely_mondo_relaxed.owl 46,XX testicular disorders of Sex development|XX Male, Sry-positive|46, XX gonadal sex reversal|XX male syndrome|XX sex reversal|46,XX testicular differences of sex development|De la Chapelle syndrome|46,XX testicular DSD|XX, male syndrome|46,XX testicular disorder of sex development GARD:0000399|UMLS:CN205000|UMLS:C2936419|MESH:D058531|DOID:0111760|OMIM:300833|Orphanet:393|UMLS:C2748895|ICD10:Q99.1|NCIT:C127170|OMIM:278850 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0021028 biolink:NamedThing genetic nail anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic nail anomaly Orphanet:183454 owl:Class MONDO:0019283 biolink:NamedThing nail anomaly A epidermal appendage anomaly that involves the nail. tmpte7i6ely_mondo_relaxed.owl epidermal appendage anomaly of nail|nail epidermal appendage anomaly MedDRA:10028684|Orphanet:79368 owl:Class MONDO:0003701 biolink:NamedThing thyroid gland diffuse sclerosing papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. tmpte7i6ely_mondo_relaxed.owl nonencapsulated sclerosing adenocarcinoma|nonencapsulated sclerosing carcinoma|nonencapsulated sclerosing papillary thyroid carcinoma|papillary carcinoma, diffuse sclerosing|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing tumor|nonencapsulated sclerosing neoplasm UMLS:C0334330|ICDO:8350/3|UMLS:C1321862|NCIT:C7427|DOID:5914 owl:Class MONDO:0005075 biolink:NamedThing thyroid gland papillary carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. tmpte7i6ely_mondo_relaxed.owl papillary thyroid gland carcinoma|papillary cancer of the thyroid gland|papillary carcinoma of thyroid|papillary thyroid cancer|thyroid gland papillary cancer|papillary cancer of thyroid|thyroid gland papillary carcinoma|papillary cancer of thyroid gland|papillary cancer of the thyroid|thyroid papillary carcinoma|papillary carcinoma of thyroid gland|papillary carcinoma of the thyroid gland|papillary thyroid carcinoma|papillary carcinoma of the thyroid NCIT:C4035|HP:0002895|ONCOTREE:THPA|NCIT:C2853|GARD:0012027|UMLS:C0238463|EFO:0000641|SCTID:255029007|OMIM:188550|DOID:3969 owl:Class MONDO:0010779 biolink:NamedThing mitochondrial non-syndromic sensorineural hearing loss tmpte7i6ely_mondo_relaxed.owl mitochondrial non-syndromic neurosensory deafness|isolated mitochondrial neurosensory deafness|deafness, nonsyndromic sensorineural, mitochondrial|isolated mitochondrial sensorineural deafness|deafness, isolated, due to mitochondrial transmission|mitochondrial non-syndromic sensorineural deafness DOID:0111751|OMIM:500008|OMIM:221745|Orphanet:90641|GARD:0001709|ICD10:H90.3 owl:Class MONDO:0016297 biolink:NamedThing prelingual non-syndromic genetic hearing loss A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. tmpte7i6ely_mondo_relaxed.owl isolated prelingual genetic deafness|prelingual non-syndromic genetic deafness SCTID:764098007|Orphanet:216445 owl:Class MONDO:0014820 biolink:NamedThing mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. tmpte7i6ely_mondo_relaxed.owl OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|mitochondrial DNA depletion syndrome caused by mutation in OPA1|MTDPS14|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) UMLS:C4225163|DOID:0080336|OMIM:616896 owl:Class MONDO:0007414 biolink:NamedThing Gorham-Stout disease Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. tmpte7i6ely_mondo_relaxed.owl cystic angiomatosis of bone diffuse|Gorham disease|osteolysis, massive|vanishing bone disease|Gorham syndrome|cystic angiomatosis of bone, diffuse|Gorham-Stout disease|idiopathic massive osteolysis|progressive massive osteolysis|osteolysis massive Orphanet:73|SCTID:1515008|OMIM:123880|MedDRA:10071283|ICD10:M89.5|GARD:0006542|ICD9:733.99 owl:Class MONDO:0002013 biolink:NamedThing lymphangioma A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. tmpte7i6ely_mondo_relaxed.owl benign lymphangioma (morphologic abnormality)|congenital lymphangioma|lymphangioma|LM|benign lymphangioma|lymphangioma, benign ICDO:9170/0|NCIT:C8965|SCTID:400178008|SCTID:254836000|UMLS:CN201700|MESH:D008202|ICD9:228.1|GARD:0009789|DOID:1475|ICD10:D18.1|Orphanet:2415 owl:Class MONDO:0014060 biolink:NamedThing progressive retinal dystrophy due to retinol transport defect tmpte7i6ely_mondo_relaxed.owl RDCCAS|retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinol dystrophy-iris coloboma-comedogenic acne syndrome Orphanet:352718|UMLS:C3554593|OMIM:615147|ICD10:H35.5 owl:Class MONDO:0019118 biolink:NamedThing inherited retinal dystrophy An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary retinal dystrophy|retinal dystrophy|familial retinal dystrophy|genetic retinal dystrophy|hereditary retinal degeneration|inherited retinal dystrophy|fundus dystrophy ICD9:362.70|ICD9:362.72|DOID:8500|HP:0000556|NCIT:C35194|ICD10:H35.5|SCTID:314407005|ICD9:362.75|ICD10:H35.50|NCIT:C35625|UMLS:C0154860|SCTID:41799005|MESH:D058499|DOID:8501|UMLS:C0854723|ICD9:362.7|Orphanet:71862|MedDRA:10038857 Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same owl:Class MONDO:0002397 biolink:NamedThing liver sarcoma A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of the liver|sarcoma of liver|hepatic sarcoma|liver sarcoma DOID:270|UMLS:C0345906|SCTID:254601002|NCIT:C4437 owl:Class MONDO:0002691 biolink:NamedThing liver cancer An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant hepato-biliary neoplasm|primary malignant neoplasm of liver|Resectable malignant neoplasm of liver|malignant neoplasm of liver, primary|primary malignant liver neoplasm|ca liver - primary|malignant neoplasm of liver|primary tumor of the liver|primary liver cancer|malignant liver neoplasm|non-resectable primary hepatic malignant neoplasm|malignant tumor of liver|resectable malignant neoplasm of the liver|primary cancer of liver|liver cancer|cancer of liver|malignant neoplasm of liver, not specified as primary or secondary|Ca liver - primary|hepatic cancer|hepatic neoplasm UMLS:C0345904|ICD10:C22.0|ICD9:155.0|GARD:0006608|DOID:3571|NCIT:C34803|ICD9:155.2|UMLS:C0024620|ICD10:C22.9|SCTID:93870000|UMLS:C0854795 owl:Class MONDO:0044887 biolink:NamedThing central nervous system non-hodgkin lymphoma A non-Hodgkin lymphoma that arises from the central nervous system. tmpte7i6ely_mondo_relaxed.owl non-Hodgkin lymphoma of central nervous system|Primary Central nervous system non-Hodgkin lymphoma|central nervous system non-Hodgkin lymphoma|Central nervous system non-Hodgkin lymphoma NCIT:C114779|SCTID:448254007|UMLS:C2213246 owl:Class MONDO:0015759 biolink:NamedThing B-cell non-Hodgkin lymphoma The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 tmpte7i6ely_mondo_relaxed.owl B-cell NHL|B-cell non-Hodgkin's lymphoma|non-Hodgkin's B-cell lymphoma|non-Hodgkin's lymphoma B-cell|B-cell lymphoma|B-cell non Hodgkin's lymphoma|lymphomas non-Hodgkin's B-cell|B-cell non-Hodgkin lymphoma NCIT:C3457|Orphanet:171915 owl:Class MONDO:0015088 biolink:NamedThing autosomal dominant pure spastic paraplegia Autosomal dominant form of pure hereditary spastic paraplegia. tmpte7i6ely_mondo_relaxed.owl autosomal dominant pure SPG|autosomal dominant uncomplicated SPG|autosomal dominant uncomplicated spastic paraplegia|autosomal dominant pure hereditary spastic paraplegia|pure hereditary spastic paraplegia, autosomal dominant|autosomal dominant uncomplicated HSP|autosomal dominant pure HSP UMLS:CN226594|ICD10:G11.4|Orphanet:100980 owl:Class MONDO:0015149 biolink:NamedThing pure hereditary spastic paraplegia tmpte7i6ely_mondo_relaxed.owl uncomplicated hereditary spastic paraplegia|uncomplicated SPG|Pure familial spastic paraplegia|Pure SPG|uncomplicated HSP|Pure HSP|uncomplicated familial spastic paraplegia UMLS:C0393555|Orphanet:102012|SCTID:230260007|ICD10:G11.4 owl:Class MONDO:0021921 biolink:NamedThing Arnold stickler bourne syndrome tmpte7i6ely_mondo_relaxed.owl corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy MESH:C537431|UMLS:C2931492|GARD:0000366 https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome owl:Class MONDO:0004323 biolink:NamedThing muscular atrophy The loss of muscle tissue due to inactivity or disease. tmpte7i6ely_mondo_relaxed.owl amyotrophia|muscle wasting|wasting - muscle SCTID:88092000|MESH:D009133|NCIT:C94834|DOID:767|ICD9:728.2 owl:Class MONDO:0007203 biolink:NamedThing blue rubber bleb nevus Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. tmpte7i6ely_mondo_relaxed.owl bean syndrome|blue rubber bleb nevus|BRBN|BRBNS|blue rubber bleb nevus syndrome ICD10:Q27.8|MESH:C536240|NCIT:C4486|Orphanet:1059|GARD:0005940|SCTID:254784002|OMIM:112200|UMLS:C0346072 owl:Class UBERON:0005619 biolink:NamedThing secondary palatal shelf tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010000 biolink:NamedThing multicellular anatomical structure An anatomical structure that has more than one cell as a part. tmpte7i6ely_mondo_relaxed.owl multicellular structure owl:Class CHEBI:14321 biolink:NamedThing glutamate(1-) An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group tmpte7i6ely_mondo_relaxed.owl hydrogen glutamate|glutamate(1-)|glutamate|2-ammoniopentanedioate|glutamic acid monoanion owl:Class CHEBI:33558 biolink:NamedThing alpha-amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. tmpte7i6ely_mondo_relaxed.owl alpha-amino-acid anion|alpha-amino-acid anions|alpha-amino acid anions owl:Class MONDO:0016970 biolink:NamedThing partial trisomy of the long arm of chromosome 20 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 20q|partial trisomy of the long arm of chromosome type 20|partial duplication of chromosome 20q|partial duplication of the long arm of chromosome 20 Orphanet:262995 owl:Class MONDO:0016938 biolink:NamedThing partial trisomy of chromosome 20 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome type 20|partial duplication of chromosome 20 Orphanet:262692|SCTID:726360002|UMLS:C4518509 owl:Class MONDO:0019403 biolink:NamedThing congenital dyserythropoietic anemia Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. tmpte7i6ely_mondo_relaxed.owl anemia, congenital dyserythropoietic|dyserythropoietic anemia, congenital|CDA|congenital dyshaematopoietic anaemia ICD10:D64.4|OMIM:224100|GARD:0001999|OMIM:615631|UMLS:C0002876|DOID:1338|Orphanet:85|OMIMPS:224120|OMIM:224120|OMIM:613673|NCIT:C84646|OMIM:105600|SCTID:52951008|ICD9:285.8|MESH:D000742 owl:Class MONDO:0003689 biolink:NamedThing familial hemolytic anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. tmpte7i6ely_mondo_relaxed.owl congenital hemolytic anemia|hereditary hemolytic anemia|anemia hemolytic congenital ICD9:282|GARD:0006167|NCIT:C34379|DOID:589|ICD10:D58.9|SCTID:42601008|MESH:D000745|ICD9:282.9 https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia owl:Class MONDO:0010543 biolink:NamedThing Barth syndrome Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. tmpte7i6ely_mondo_relaxed.owl 3-Methylglutaconic aciduria, type 2|MGA type 2|3-Methylglutaconicaciduria type II|X-linked cardioskeletal myopathy and neutropenia|BARTH syndrome|3-methylglutaconic aciduria type II|cardioskeletal myopathy-neutropenia syndrome|Mga, type 2|Barth syndrome|BTHS|MGA2|MGA type II|TAZ defect|cardioskeletal myopathy with neutropenia and abnormal mitochondria|3-Methylglutaconicaciduria type 2|3-methylglutaconic aciduria type 2 GARD:0005890|ICD10:E71.1|MESH:D056889|DOID:0050476|SCTID:297231002|NCIT:C84585|ICD10:E78.71|OMIM:302060|UMLS:C0574083|Orphanet:111 https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome owl:Class MONDO:0018117 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis tmpte7i6ely_mondo_relaxed.owl Orphanet:352301|UMLS:CN227264 owl:Class MONDO:0045063 biolink:NamedThing major salivary gland adenoid cystic carcinoma An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of major salivary gland|major salivary gland adenoid cystic cancer|major salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of the major salivary gland UMLS:C1334548|NCIT:C5905 owl:Class MONDO:0004971 biolink:NamedThing adenoid cystic carcinoma A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. tmpte7i6ely_mondo_relaxed.owl cylindroma|adenoid cystic carcinoma|cribriform carcinoma|adenocystic carcinoma|adenoid cystic cancer|cylindroid adenocarcinoma GARD:0005743|MESH:D003528|NCIT:C2970|ONCOTREE:ACYC|UMLS:C0010606|ICDO:8200/3|EFO:0000231|DOID:0080202 owl:Class GO:0004857 biolink:NamedThing enzyme inhibitor activity Binds to and stops, prevents or reduces the activity of an enzyme. tmpte7i6ely_mondo_relaxed.owl metalloenzyme inhibitor activity owl:Class GO:0030234 biolink:NamedThing enzyme regulator activity Binds to and modulates the activity of an enzyme. tmpte7i6ely_mondo_relaxed.owl enzyme modulator|catalytic regulator activity|metalloenzyme regulator activity owl:Class GO:0003022 biolink:NamedThing detection of pH by chemoreceptor signaling The process in which information about the levels of hydrogen ions are received and are converted to a molecular signal by chemoreceptors. tmpte7i6ely_mondo_relaxed.owl detection of pH by chemoreceptor signalling owl:Class MONDO:0007200 biolink:NamedThing blepharonasofacial malformation syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. tmpte7i6ely_mondo_relaxed.owl Pashayan syndrome|blepharonasofacial malformation syndrome|Pashayan-Prozansky syndrome GARD:0004238|SCTID:717913006|MESH:C536303|ICD10:Q87.0|Orphanet:1252|OMIM:110050|UMLS:C0796197 https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome owl:Class MONDO:0006046 biolink:NamedThing ovarian serous cystadenocarcinoma A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. tmpte7i6ely_mondo_relaxed.owl ovarian serous cystadenocarcinoma EFO:1000043|UMLS:C0279663|NCIT:C7978|DOID:5746 owl:Class MONDO:0024621 biolink:NamedThing serous cystadenocarcinoma A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures. tmpte7i6ely_mondo_relaxed.owl serous cystadenocarcinoma|serous adenocarcinoma UMLS:C0206701|ICDO:8441/3|NCIT:C3778 owl:Class UBERON:0012482 biolink:NamedThing submucosa of cloaca tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000009 biolink:NamedThing submucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010436 biolink:NamedThing chromosome Xq28 duplication syndrome tmpte7i6ely_mondo_relaxed.owl chromosome Xq28 duplication syndrome MESH:C567580|Orphanet:1762|UMLS:C2749007|OMIM:300815 owl:Class MONDO:0000762 biolink:NamedThing syndrome caused by partial chromosomal duplication A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome. tmpte7i6ely_mondo_relaxed.owl chromosomal duplication syndrome DOID:0060429 This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part). Editor note: this is used in DOID to encompass typically partial duplications owl:Class MONDO:0016949 biolink:NamedThing partial duplication of the short arm of chromosome 16 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial trisomy 16p|16p duplication|partial trisomy of the short arm of chromosome 16|partial trisomy of chromosome 16p|partial duplication of the short arm of chromosome type 16|Duplication 16p|trisomy 16p|partial duplication of chromosome 16p|chromosome 16p duplication|16p trisomy UMLS:C0795861|Orphanet:262794|GARD:0005315 owl:Class MONDO:0017714 biolink:NamedThing acyl-CoA dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:E71.3|Orphanet:309120|SCTID:82319005|UMLS:C0268635 owl:Class MONDO:0017713 biolink:NamedThing disorder of fatty acid oxidation and ketogenesis tmpte7i6ely_mondo_relaxed.owl ICD10:E71.3|Orphanet:309115|UMLS:CN227183 owl:Class GO:0070874 biolink:NamedThing negative regulation of glycogen metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpte7i6ely_mondo_relaxed.owl negative regulation of glycogen metabolism owl:Class GO:0010677 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002082 biolink:NamedThing endocrine gland neoplasm A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. tmpte7i6ely_mondo_relaxed.owl endocrine system tumor|endocrine tumor|malignant endocrine tumor|endocrine gland neoplasm (disease)|endocrine system neoplasm|tumor of endocrine gland|neoplasm of endocrine gland|endocrine gland tumor|endocrine neoplasm EFO:0003769|ICD9:239.7|NCIT:C3010|SCTID:387922007 owl:Class UBERON:0002240 biolink:NamedThing spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000489 biolink:NamedThing cavitated compound organ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001480 biolink:NamedThing proximal carpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001435 biolink:NamedThing carpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014365 biolink:NamedThing spermatogenic failure 13 Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure type 13|TAF4B azoospermia|SPGF13|azoospermia caused by mutation in TAF4B|spermatogenic failure 13 Orphanet:399805|DOID:0070182|OMIM:615841|UMLS:C4014449 owl:Class HGNC:11540 biolink:NamedThing TAF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003154 biolink:NamedThing hemangioma of peripheral nerve A hemangioma arising from the peripheral nerves. tmpte7i6ely_mondo_relaxed.owl nerve hemangioma|hemangioma of nerve|hemangioma of peripheral nerve NCIT:C27507|DOID:482|UMLS:C1333956 owl:Class MONDO:0003241 biolink:NamedThing central nervous system hemangioma A hemangioma arising from the brain and spinal cord. tmpte7i6ely_mondo_relaxed.owl hemangioma of the CNS|hemangioma of central nervous system|hemangioma of CNS|central nervous system hemangioma|hemangioma of the central nervous system DOID:501|UMLS:C1333957|NCIT:C7004 owl:Class GO:2000727 biolink:NamedThing positive regulation of cardiac muscle cell differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation owl:Class GO:2000725 biolink:NamedThing regulation of cardiac muscle cell differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of heart muscle cell differentiation|regulation of cardiomyocyte differentiation owl:Class MONDO:0014706 biolink:NamedThing cutis laxa, autosomal dominant 3 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. tmpte7i6ely_mondo_relaxed.owl ADCL3|autosomal dominant cutis laxa 3|cutis laxa, autosomal dominant 3|cutis laxa, autosomal dominant type 3 DOID:0070131|UMLS:C4225268|ICD10:Q82.8|OMIM:616603 owl:Class MONDO:0100237 biolink:NamedThing inherited cutis laxa An instance of cutis laxa that is inherited. tmpte7i6ely_mondo_relaxed.owl hereditary cutis laxa OMIM:219150|OMIM:614438|OMIM:219200|OMIM:219100|OMIMPS:123700|OMIM:614437|OMIM:613177|OMIM:614434|OMIM:123700|OMIM:612940 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0022804 biolink:NamedThing active transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. tmpte7i6ely_mondo_relaxed.owl pump activity|permease activity|active carrier activity|carrier activity owl:Class GO:0022857 biolink:NamedThing transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl substrate-specific transmembrane transporter activity|substrate-specific transporter activity|uptake permease activity|uptake transmembrane transporter activity owl:Class UBERON:0006815 biolink:NamedThing areolar connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011825 biolink:NamedThing loose connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030194 biolink:NamedThing positive regulation of blood coagulation Any process that activates or increases the frequency, rate or extent of blood coagulation. tmpte7i6ely_mondo_relaxed.owl up regulation of blood coagulation|stimulation of blood coagulation|activation of blood coagulation|up-regulation of blood coagulation|upregulation of blood coagulation owl:Class GO:0090303 biolink:NamedThing positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012862 biolink:NamedThing Abnormal germ cell morphology Any structural anomaly of a reproductive cell. tmpte7i6ely_mondo_relaxed.owl Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell UMLS:C4022704 hecht 2014-06-09T10:01:49Z human_phenotype owl:Class HP:0012243 biolink:NamedThing Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. tmpte7i6ely_mondo_relaxed.owl Abnormal genital system morphology UMLS:C4021096 peter 2013-04-02T07:02:20Z human_phenotype owl:Class MONDO:0004878 biolink:NamedThing female breast upper-outer quadrant cancer tmpte7i6ely_mondo_relaxed.owl UMLS:C0153552|DOID:9773|SCTID:188154003|ICD10:C50.41|ICD9:174.4 owl:Class MONDO:0004379 biolink:NamedThing female breast carcinoma A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. tmpte7i6ely_mondo_relaxed.owl carcinoma of female breast|carcinoma of the female breast|mammary carcinoma of female breast|mammary carcinoma of the female breast|female breast carcinoma|female breast cancer|breast carcinoma, female DOID:0050671|UMLS:C0007104|SCTID:372064008|DOID:7843|ICD9:174.9|NCIT:C2918|SCTID:447782002|ICD9:174.8 owl:Class MONDO:0020001 biolink:NamedThing respiratory or thoracic malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:97957 owl:Class GO:0016064 biolink:NamedThing immunoglobulin mediated immune response An immune response mediated by immunoglobulins, whether cell-bound or in solution. tmpte7i6ely_mondo_relaxed.owl antibody-mediated immune response owl:Class GO:0019724 biolink:NamedThing B cell mediated immunity Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. tmpte7i6ely_mondo_relaxed.owl B-lymphocyte mediated immune effector process|B-cell mediated immunity|B-cell mediated immune effector process|B lymphocyte mediated immunity|B lymphocyte mediated immune effector process|B-lymphocyte mediated immunity owl:Class MONDO:0010899 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 1 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4|epilepsy, nocturnal frontal lobe, type 1|autosomal dominant nocturnal frontal lobe epilepsy type 1|ENFL1|nocturnal frontal lobe epilepsy 1|CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, nocturnal frontal lobe, 1 MESH:C563930|OMIM:600513|Orphanet:98784|UMLS:C1838049|DOID:0060682 owl:Class MONDO:0020300 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. tmpte7i6ely_mondo_relaxed.owl ENFL|ADNFLE ICD9:345.80|OMIM:605375|UMLS:C3696898|DOID:0060681|MESH:C579932|OMIM:603204|SCTID:698021005|OMIM:600513|Orphanet:98784|OMIM:610353|OMIM:615005|GARD:0011918 owl:Class MONDO:0013351 biolink:NamedThing infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. tmpte7i6ely_mondo_relaxed.owl postnatal progressive microcephaly, seizures, and brain atrophy|microcephaly, postnatal progressive, with seizures and brain atrophy UMLS:C3150921|DOID:0111262|OMIM:613668|ICD10:Q04.3|GARD:0010995|Orphanet:402364 owl:Class GO:0009247 biolink:NamedThing glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). tmpte7i6ely_mondo_relaxed.owl glycolipid anabolism|glycolipid synthesis|glycolipid biosynthesis|glycolipid formation owl:Class MONDO:0000263 biolink:NamedThing laryngotracheitis An inflammation of both larynx and trachea. tmpte7i6ely_mondo_relaxed.owl ICD9:464|ICD10:J04.2|SCTID:55130001|ICD9:464.2|UMLS:C0023076|ICD10:J37.1|ICD9:476.1|ICD10:J04|DOID:0050148 owl:Class MONDO:0002647 biolink:NamedThing laryngitis An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. tmpte7i6ely_mondo_relaxed.owl laryngeal Inflammation|inflammation of larynx|laryngeal inflammation|larynx inflammation DOID:3437|MESH:D007827|SCTID:45913009|UMLS:C0023067|ICD9:464.00|NCIT:C26811 owl:Class MONDO:0006362 biolink:NamedThing peritoneal mesothelioma A benign or malignant mesothelial neoplasm that arises from the peritoneum. tmpte7i6ely_mondo_relaxed.owl mesothelioma of peritoneum|peritoneal mesothelioma (disease)|peritoneal mesothelioma|mesothelioma of the peritoneum|peritoneum mesothelioma peritoneal mesothelioma (disease) NCIT:C7633|ICD10:C45.1|HP:0100003|SCTID:109853004|EFO:1000467|ONCOTREE:PEMESO owl:Class MONDO:0006901 biolink:NamedThing peritoneal neoplasm A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. tmpte7i6ely_mondo_relaxed.owl neoplasm of peritoneum|peritoneum neoplasm (disease)|peritoneal neoplasm|tumor of peritoneum|peritoneum neoplasm|peritoneum tumor MESH:D010534|SCTID:126865007|MedDRA:10061344|EFO:1001100|NCIT:C3322 owl:Class NCBITaxon:28844 biolink:NamedThing Diphyllobothrium tmpte7i6ely_mondo_relaxed.owl broad tapeworm|fish tapeworms|broad tapeworms GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:28843 biolink:NamedThing Diphyllobothriidae tmpte7i6ely_mondo_relaxed.owl Ligulidae GC_ID:1 NCBITaxon:1256674|NCBITaxon:94843 ncbi_taxonomy owl:Class MONDO:0012924 biolink:NamedThing Diamond-Blackfan anemia 4 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene. tmpte7i6ely_mondo_relaxed.owl DBA4|Diamond-Blackfan anemia caused by mutation in RPS17|Diamond-Blackfan Anemia type 4|RPS17 Diamond-Blackfan anemia|Diamond-Blackfan anemia 4 UMLS:C2675860|OMIM:612527|MESH:C567281 owl:Class MONDO:0015253 biolink:NamedThing Diamond-Blackfan anemia A congenital aregenerative and often macrocytic anemia with erythroblastopenia. tmpte7i6ely_mondo_relaxed.owl BDS|inherited erythroblastopenia|congenital pure red cell aplasia|Diamond-Blackfan anemia|erythrogenesis imperfecta|DBA|congenital PRCA|Blackfan-Diamond anemia|Red cell aplasia, pure hereditary|anemia Diamond Blackfan type|aregenerative anemia chronic congenital|anemia congenital erythroid hypoplastic|Blackfan Diamond syndrome|Blackfan - Diamond syndrome|congenital hypoplastic anemia, Blackfan-Diamond type|Aase-Smith II syndrome|congenital hypoplastic anemia|Aase syndrome|chronic constitutional pure red cell anaemia UMLS:C0265265|OMIM:606129|OMIM:613308|OMIM:615550|OMIM:614900|OMIM:610629|NCIT:C61236|MedDRA:10062989|OMIM:612562|ICD10:D61.0|OMIM:300946|UMLS:C1260899|OMIM:612561|OMIM:612527|MESH:D029503|OMIM:612528|OMIM:612563|ICD10:D61.01|Orphanet:124|DOID:1339|OMIM:105650|SCTID:88854002|OMIM:606164|GARD:0006274|OMIM:615909|OMIM:613309|OMIMPS:105650 owl:Class MONDO:0018994 biolink:NamedThing Charcot-Marie-Tooth disease type X A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. tmpte7i6ely_mondo_relaxed.owl X-linked Charcot-Marie-Tooth disease|CMTX|COWCK|X-linked hereditary motor and sensory neuropathy DOID:0050542|UMLS:CN205436|Orphanet:64747|ICD10:G60.0|GARD:0012444|ICD9:356.9|SCTID:230552007 owl:Class MONDO:0015358 biolink:NamedThing hereditary motor and sensory neuropathy A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) tmpte7i6ely_mondo_relaxed.owl HMSN GARD:0012685|ICD10:G60.0|Orphanet:140450|MESH:D015417|SCTID:398100001 owl:Class MONDO:0002381 biolink:NamedThing sweat gland neoplasm A benign or malignant neoplasm arising from the sweat glands. tmpte7i6ely_mondo_relaxed.owl sweat gland tumor (morphologic abnormality)|neoplasm of the sweat gland|sweat gland tumor NOS (morphologic abnormality)|sweat gland neoplasms|neoplasm of sweat gland|tumor of the sweat gland|tumor of sweat gland|sweat gland neoplasm|sweat gland tumor|sweat gland neoplasm (disease) DOID:2664|UMLS:C0038987|NCIT:C3398|SCTID:126490003|EFO:1001204|ICD9:239.2|ICDO:8400/1|MESH:D013544 MONDO:0021219 owl:Class NCBITaxon:452284 biolink:NamedThing Ustilaginomycotina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5204 biolink:NamedThing Basidiomycota tmpte7i6ely_mondo_relaxed.owl basidiomycetes GC_ID:1 ncbi_taxonomy owl:Class NBO:0000389 biolink:NamedThing reflexive behavior "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl reflex behaviour owl:Class NBO:0000388 biolink:NamedThing involuntary movement behavior "Behavior related to movements that occur independent of planning." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4806 biolink:NamedThing HAL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010309 biolink:NamedThing palpebral bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003462 biolink:NamedThing facial bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019927 biolink:NamedThing growth hormone-producing pituitary gland neoplasm An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone. tmpte7i6ely_mondo_relaxed.owl growth hormone secreting pituitary gland tumor|growth hormone secreting neoplasm of pituitary gland|somatotropinoma of pituitary gland|growth hormone secreting neoplasm of the pituitary gland|growth hormone producing pituitary tumor|growth hormone secreting pituitary neoplasm|growth hormone secreting tumor of the pituitary|pituitary gland somatotropinoma|growth hormone producing tumor of the pituitary gland|growth hormone producing tumor of the pituitary|growth hormone secreting neoplasm of the pituitary|growth hormone secreting tumor of the pituitary gland|Growth hormone-producing pituitary gland tumor|growth hormone producing tumor|growth hormone secreting tumor of pituitary gland|pituitary somatotropinoma|growth hormone producing pituitary neoplasm|growth hormone secreting neoplasm of pituitary|somatotroph tumor|growth hormone secreting pituitary tumor|growth hormone producing neoplasm of pituitary|somatotroph neoplasm|growth hormone producing tumor of pituitary gland|growth hormone producing pituitary gland tumor|growth hormone secreting pituitary gland neoplasm|growth hormone secreting tumor of pituitary|growth hormone-producing pituitary gland neoplasm|somatotropinoma|somatotropinoma of the pituitary|growth hormone producing neoplasm of pituitary gland|growth hormone producing neoplasm of the pituitary|growth hormone producing pituitary gland neoplasm|somatotropinoma of the pituitary gland|growth hormone producing tumor of pituitary|somatotropinoma of pituitary|growth hormone producing neoplasm of the pituitary gland NCIT:C7911|UMLS:C0278864 owl:Class NCBITaxon:5878 biolink:NamedThing Ciliophora tmpte7i6ely_mondo_relaxed.owl Ciliata|ciliates GC_ID:6 ncbi_taxonomy owl:Class NCBITaxon:33630 biolink:NamedThing Alveolata tmpte7i6ely_mondo_relaxed.owl alveolates GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001419 biolink:NamedThing trachea squamous cell carcinoma A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of trachea|squamous cell carcinoma of trachea|trachea epidermoid carcinoma|squamous cell carcinoma of the trachea|trachea squamous cell carcinoma|tracheal squamous cell carcinoma|epidermoid carcinoma of the trachea|tracheal epidermoid carcinoma SCTID:254620000|EFO:1000600|UMLS:C0345946|DOID:12003|NCIT:C4448 owl:Class GO:0009074 biolink:NamedThing aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpte7i6ely_mondo_relaxed.owl aromatic amino acid family breakdown|aromatic amino acid family catabolism|aromatic amino acid family degradation owl:Class GO:0009072 biolink:NamedThing aromatic amino acid family metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpte7i6ely_mondo_relaxed.owl aromatic amino acid family metabolism owl:Class MONDO:0002714 biolink:NamedThing central nervous system cancer A malignant neoplasm involving the central nervous system tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of central nervous system|malignant CNS tumor|malignant neoplasm of the CNS|central nervous system neoplasms, malignant|CNS neoplasm|malignant central nervous system neoplasm|CNS cancer|cancer of central nervous system|malignant tumor of CNS|malignant CNS neoplasm|cancer of the CNS|malignant tumor of central nervous system|malignant tumor of the CNS|malignant tumor of the central nervous system|malignant neoplasm of CNS|cancer of CNS|central nervous system tumors|CNS neoplasms, malignant|malignant neoplasm of the central nervous system|central nervous system tumor|cancer of the central nervous system|malignant central nervous system tumor|central nervous system cancer|CNS malignant neoplasms|malignant CNS neoplasms MESH:D016543|DOID:3620|SCTID:126951006|ICD10:C72.9|EFO:0000326|NCIT:C4627|ICD9:239.7 owl:Class MONDO:0006130 biolink:NamedThing central nervous system neoplasm A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. tmpte7i6ely_mondo_relaxed.owl central nervous system neoplasm (disease)|neoplasm of central nervous system|tumor of the CNS|tumor of the central nervous system|CNS neoplasm|tumor of central nervous system|central nervous system neoplasm|neoplasm of CNS|brain/spinal cord tumor|neoplasm of the central nervous system|central nervous system tumor|CNS tumor|tumor of CNS NCIT:C9293|EFO:1000158 owl:Class MONDO:0014728 biolink:NamedThing combined oxidative phosphorylation defect type 27 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 27|combined oxidative phosphorylation deficiency caused by mutation in CARS2|CARS2 combined oxidative phosphorylation deficiency|COXPD27|combined oxidative phosphorylation deficiency type 27 DOID:0111489|OMIM:616672|Orphanet:477774|UMLS:C4225251|EFO:0009037 owl:Class MONDO:0000732 biolink:NamedThing combined oxidative phosphorylation deficiency A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. tmpte7i6ely_mondo_relaxed.owl OMIMPS:609060|DOID:0060286|GARD:0012893 https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency owl:Class GO:0045639 biolink:NamedThing positive regulation of myeloid cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. tmpte7i6ely_mondo_relaxed.owl upregulation of myeloid cell differentiation|up-regulation of myeloid cell differentiation|activation of myeloid cell differentiation|stimulation of myeloid cell differentiation|up regulation of myeloid cell differentiation owl:Class HGNC:29284 biolink:NamedThing DIP2B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030295 biolink:NamedThing protein kinase activator activity Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019887 biolink:NamedThing protein kinase regulator activity Modulates the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002677 biolink:NamedThing conventional fibrosarcoma A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern. tmpte7i6ely_mondo_relaxed.owl conventional fibrosarcoma|classical fibrosarcoma|classic fibrosarcoma NCIT:C9429|UMLS:C1333156|DOID:3517 owl:Class MONDO:0005164 biolink:NamedThing fibrosarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. tmpte7i6ely_mondo_relaxed.owl fibrosarcoma of soft tissue|fibrosarcoma (disease)|malignant fibromatous neoplasm|fibrocytic tumor|fibrosarcoma|fibrosarcoma, malignant|fibrosarcoma (excluding infantile fibrosarcoma)|fibrous tissue neoplasm|fibrosarcoma - not infantile fibrosarcoma (disease) MedDRA:10016632|NCIT:C3043|GARD:0002327|EFO:0002087|ICDO:8810/3|Orphanet:2030|ICD9:171.9|DOID:3355|NCIT:C7075|ONCOTREE:FIBS|OMIM:117600|SCTID:443250000|UMLS:C0016057|ICD10:C49.9|HP:0100244 owl:Class UBERON:0001312 biolink:NamedThing superior vesical artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003468 biolink:NamedThing ureteric segment of renal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004674 biolink:NamedThing facial nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004684 biolink:NamedThing plantar fibromatosis A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. tmpte7i6ely_mondo_relaxed.owl plantar part of pes superficial fibromatosis|superficial fibromatosis of plantar part of pes|plantar fascial fibromatosis|plantar part of pes superficial Fibromatosis|Dupuytren's contracture of foot|Ledderhose's disease|superficial Fibromatosis of plantar part of pes|plantar fibromatosis ICD9:728.71|SCTID:13370002|NCIT:C4680|EFO:1000481|DOID:8936|MESH:C537000|ICD10:M72.2 owl:Class MONDO:0016037 biolink:NamedThing superficial Fibromatosis A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. tmpte7i6ely_mondo_relaxed.owl superficial Fibromatosis ICD9:729.99|Orphanet:199257|SCTID:238853007|EFO:1000556|UMLS:C0406571|NCIT:C6814|ICD10:M72.8 owl:Class MONDO:0009266 biolink:NamedThing Gaucher disease type II Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. tmpte7i6ely_mondo_relaxed.owl Gaucher disease type II|Gaucher disease, type 2|Gd 2|acute neuronopathic Gaucher disease|GD II|infantile cerebral Gaucher disease|Gaucher disease type 2|Gaucher disease, acute neuronopathic type|Gaucher's disease type II|Gaucher disease, infantile cerebral|Gaucher disease, type II Orphanet:355|ICD10:E75.2|OMIM:230900|DOID:0110958|GARD:0002442|SCTID:12246008|Orphanet:77260 owl:Class MONDO:0018150 biolink:NamedThing Gaucher disease Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). tmpte7i6ely_mondo_relaxed.owl Gaucher's disease|glucosylceramidase deficiency|glucosylceramide beta-glucosidase deficiency|kerasin lipoidosis|cerebroside lipidosis syndrome|lipoid histiocytosis|kerasin thesaurismosis|glucocerebrosidase deficiency|kerasin histiocytosis|glucosyl cerebroside lipidosis|acid beta-glucosidase deficiency|Gaucher disease|glucocerebrosidosis|Gaucher splenomegaly|sphingolipidosis 1|lipoid histiocytosis (kerasin type)|acute cerebral Gaucher disease|glocucerebrosidase deficiency|Gaucher syndrome OMIM:610539|NCIT:C61268|OMIM:608013|DOID:1926|MESH:D005776|ICD10:E75.22|Orphanet:355|OMIM:230800|UMLS:C0017205|ICD10:E75.2|MedDRA:10018048|GARD:0008233|OMIM:231005|OMIM:230900|SCTID:190794006|OMIM:231000 owl:Class MONDO:0021465 biolink:NamedThing benign neoplasm of appendix A benign neoplasm that involves the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl benign tumor of the appendix|benign appendix tumor|benign appendix neoplasm|benign neoplasm of the appendix|vermiform appendix benign neoplasm|benign tumor of appendix NCIT:C4773|SCTID:91981009|UMLS:C0496860|ICD10:D12.1 owl:Class MONDO:0001236 biolink:NamedThing appendiceal neoplasm A benign or malignant neoplasm involving the appendix. tmpte7i6ely_mondo_relaxed.owl vermiform appendix tumor|tumor of the appendix|neoplasm of appendix|vermiform appendix neoplasm|tumor of vermiform appendix|neoplasm of vermiform appendix|appendix tumor|tumor of appendix|neoplasm of the appendix|appendix neoplasm|vermiform appendix neoplasm (disease) NCIT:C4434|EFO:0003880|MESH:D001063|UMLS:C0003614|DOID:11240|SCTID:126846004 owl:Class GO:0005981 biolink:NamedThing regulation of glycogen catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpte7i6ely_mondo_relaxed.owl regulation of glycogen breakdown|regulation of glycogenolysis|regulation of glycogen degradation|regulation of glycogen catabolism owl:Class GO:0070873 biolink:NamedThing regulation of glycogen metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpte7i6ely_mondo_relaxed.owl regulation of glycogen metabolism owl:Class MONDO:0000389 biolink:NamedThing atelosteogenesis tmpte7i6ely_mondo_relaxed.owl OMIM:108721|SCTID:43814000|OMIM:256050|UMLS:CN163181|DOID:0050648|OMIMPS:108720|OMIM:108720 owl:Class MONDO:0002052 biolink:NamedThing lymphadenitis Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. tmpte7i6ely_mondo_relaxed.owl acute lymphadenitis|lymph nodeitis|lymphadenitis|chronic adenitis|lymphadenitis (disease)|Inflammation of lymph node|lymph gland infection|lymph node inflammation|inflammation of lymph node|chronic lymphadenitis|acute adenitis|adenitis lymphadenitis (disease) MESH:D008199|ICD10:L04.9|DOID:1602|ICD9:683|ICD10:I88.9|HP:0002840|UMLS:C0024205|ICD10:L04|NCIT:C26821|SCTID:41174002|UMLS:C0157705|ICD9:289.1|UMLS:C0154304|ICD10:I88.1 owl:Class MONDO:0004928 biolink:NamedThing lymph node disorder Any disorder of the lymph nodes. tmpte7i6ely_mondo_relaxed.owl lymph node disease|lymph node disease or disorder|disease or disorder of lymph node|disorder of lymph node|disease of lymph node|lymph node disorder DOID:9942|NCIT:C35346|UMLS:C0272394|SCTID:76616003 owl:Class MONDO:0007358 biolink:NamedThing comedones, familial Dyskeratotic tmpte7i6ely_mondo_relaxed.owl comedones, familial Dyskeratotic SCTID:254219004|UMLS:C0345424|OMIM:120450|MESH:C562838|ICD9:757.39 owl:Class MONDO:0018453 biolink:NamedThing familial atypical multiple mole melanoma syndrome tmpte7i6ely_mondo_relaxed.owl FAMM syndrome|familial atypical mole syndrome|melanoma-pancreatic cancer syndrome|B-K mole syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|familial Clark nevus syndrome|FAMMM syndrome|familial dysplastic nevus syndrome|familial atypical mole melanoma syndrome|FAMM-PC syndrome ICD10:D22.9|Orphanet:404560|OMIM:155600|NCIT:C27264|OMIM:606719 owl:Class MONDO:0015950 biolink:NamedThing inherited skin tumor tmpte7i6ely_mondo_relaxed.owl genetic skin tumor Orphanet:183487|UMLS:CN200547 owl:Class GO:1900373 biolink:NamedThing positive regulation of purine nucleotide biosynthetic process Any process that activates or increases the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpte7i6ely_mondo_relaxed.owl upregulation of purine nucleotide formation|up regulation of purine nucleotide biosynthetic process|upregulation of purine nucleotide anabolism|up-regulation of purine nucleotide anabolism|upregulation of purine nucleotide biosynthetic process|activation of purine nucleotide synthesis|positive regulation of purine nucleotide synthesis|up regulation of purine nucleotide formation|up regulation of purine nucleotide anabolism|up-regulation of purine nucleotide biosynthetic process|activation of purine nucleotide biosynthetic process|upregulation of purine nucleotide synthesis|activation of purine nucleotide biosynthesis|positive regulation of purine nucleotide formation|up regulation of purine nucleotide biosynthesis|up-regulation of purine nucleotide biosynthesis|positive regulation of purine nucleotide biosynthesis|activation of purine nucleotide anabolism|up-regulation of purine nucleotide formation|positive regulation of purine nucleotide anabolism|activation of purine nucleotide formation|up-regulation of purine nucleotide synthesis|upregulation of purine nucleotide biosynthesis|up regulation of purine nucleotide synthesis owl:Class UBERON:0010362 biolink:NamedThing endoskeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010912 biolink:NamedThing subdivision of skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6149 biolink:NamedThing ITGAM tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001651 biolink:NamedThing Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. tmpte7i6ely_mondo_relaxed.owl Thoracic situs inversus|Heart tip and four chambers point towards right side of body EPCC:02.01.02|UMLS:C0011813|SNOMEDCT_US:27637000|ICD-10:Q24.0|Fyler:110|Fyler:0110|MSH:D003914 human_phenotype owl:Class HP:0004307 biolink:NamedThing Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025359 peter 2008-02-20T01:23:00Z human_phenotype owl:Class GO:0045541 biolink:NamedThing negative regulation of cholesterol biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpte7i6ely_mondo_relaxed.owl negative regulation of cholesterol formation|negative regulation of cholesterol biosynthesis|inhibition of cholesterol biosynthetic process|negative regulation of cholesterol anabolism|down regulation of cholesterol biosynthetic process|down-regulation of cholesterol biosynthetic process|negative regulation of cholesterol synthesis|downregulation of cholesterol biosynthetic process owl:Class MONDO:0006002 biolink:NamedThing urogenital tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. tmpte7i6ely_mondo_relaxed.owl genitourinary system tuberculosis|genitourinary tuberculosis ICD9:016.9|SCTID:4445009|ICD9:016.92|ICD9:016.90|MESH:D014401|ICD10:A18.1|ICD10:A18.10|EFO:0007531|UMLS:C0041333|ICD9:016|DOID:2149 Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass owl:Class MONDO:0014961 biolink:NamedThing spermatogenic failure 16 Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene. tmpte7i6ely_mondo_relaxed.owl SPGF16|spermatogenic failure 16|spermatogenic failure type 16|acephalic spermatozoa syndrome|spermatogenic failure 16; SPGF16|SUN5 azoospermia|azoospermia caused by mutation in SUN5 UMLS:C4310674|OMIM:617187|DOID:0070184 owl:Class OBO:CHR_9606-chr1q21.1 biolink:NamedThing 1q21.1 (Human) tmpte7i6ely_mondo_relaxed.owl 147500000 143200000 hg38 owl:Class GO:0061535 biolink:NamedThing glutamate secretion, neurotransmission The controlled release of glutamate by a cell, in which the glutamate acts as a neurotransmitter. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014047 biolink:NamedThing glutamate secretion The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0040677 biolink:NamedThing invasive carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. tmpte7i6ely_mondo_relaxed.owl invasive carcinoma NCIT:C9480|UMLS:C1334274 owl:Class MONDO:0010708 biolink:NamedThing Pallister-W syndrome W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. tmpte7i6ely_mondo_relaxed.owl Pallister W syndrome|Pallister-W syndrome|median cleft upper lip, intellectual disability and pugilistic facies|median cleft upper lip, mental retardation and pugilistic facies|W syndrome GARD:0000358|SCTID:719020006|Orphanet:2804|ICD10:Q87.8|UMLS:C0796110|OMIM:311450|MESH:C538106 owl:Class MONDO:0021697 biolink:NamedThing chlamydia infectious disease Infections with bacteria of the genus CHLAMYDIA. tmpte7i6ely_mondo_relaxed.owl Chlamydophila disease or disorder|infections, Chlamydia|infection, Chlamydia|Chlamydia caused disease or disorder|Chlamydia infection|Chlamydophila caused disease or disorder|Chlamydia disease or disorder|Chlamydia infectious disease|chlamydia infectious disease EFO:1000863|MESH:D023521|MESH:D002690 owl:Class MONDO:0020776 biolink:NamedThing chlamydiaceae infections Infections with bacteria of the family CHLAMYDIACEAE. tmpte7i6ely_mondo_relaxed.owl Chlamydiaceae Infection|Chlamydiaceae Infections|Infections, Chlamydiaceae|Infection, Chlamydiaceae EFO:1001288|UMLS:C0008153|MESH:D002694 owl:Class HP:0002202 biolink:NamedThing Pleural effusion The presence of an excessive amount of fluid in the pleural cavity. tmpte7i6ely_mondo_relaxed.owl Fluid around lungs SNOMEDCT_US:60046008|MSH:D010996|UMLS:C0032227 human_phenotype owl:Class HP:0000969 biolink:NamedThing Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. tmpte7i6ely_mondo_relaxed.owl Water retention|Dropsy|Hydrops|Oedema|Fluid retention SNOMEDCT_US:20741006|UMLS:C0013604|SNOMEDCT_US:267038008|MSH:D004487|SNOMEDCT_US:79654002|SNOMEDCT_US:423666004 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. HP:0000990 human_phenotype owl:Class GO:0009112 biolink:NamedThing nucleobase metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. tmpte7i6ely_mondo_relaxed.owl nucleobase metabolism owl:Class GO:0055086 biolink:NamedThing nucleobase-containing small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpte7i6ely_mondo_relaxed.owl nucleobase, nucleoside and nucleotide metabolism|nucleobase, nucleoside and nucleotide metabolic process owl:Class MONDO:0009479 biolink:NamedThing Johanson-Blizzard syndrome A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. tmpte7i6ely_mondo_relaxed.owl nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness|Johanson-BLIZZARD syndrome|Johanson-Blizzard syndrome|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|pancreatic insufficiency, combined exocrine|JBS EFO:0001063|UMLS:C1850081|OMIM:243800|ICD9:759.89|UMLS:C0175692|MESH:C535880|MESH:C564907|GARD:0000080|Orphanet:2315|OMIM:260450|DOID:14694|SCTID:75979009|ICD10:Q87.8 owl:Class ECTO:7000018 biolink:NamedThing exposure to rock A exposure event involving the interaction of an exposure receptor to rock. tmpte7i6ely_mondo_relaxed.owl rock exposure owl:Class ECTO:0000015 biolink:NamedThing exposure to environmental material A exposure event involving the interaction of an exposure receptor to environmental material. tmpte7i6ely_mondo_relaxed.owl environmental material exposure owl:Class MONDO:0010718 biolink:NamedThing absent radius-anogenital anomalies syndrome Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl radial aplasia, X-linked|radius absent anogenital anomalies|radial aplasia and anogenital anomalies OMIM:312190|UMLS:C1839410|GARD:0004633|Orphanet:3016|MESH:C535281 owl:Class NCBITaxon:426438 biolink:NamedThing Hyalomminae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6939 biolink:NamedThing Ixodidae tmpte7i6ely_mondo_relaxed.owl hardbacked ticks|scale ticks|hard ticks GC_ID:1 ncbi_taxonomy owl:Class GO:0033085 biolink:NamedThing negative regulation of T cell differentiation in thymus Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus. tmpte7i6ely_mondo_relaxed.owl negative regulation of thymocyte differentiation|negative regulation of thymic T cell differentiation|negative regulation of thymocyte cell differentiation|negative regulation of T cell development in thymus owl:Class GO:0033081 biolink:NamedThing regulation of T cell differentiation in thymus Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. tmpte7i6ely_mondo_relaxed.owl regulation of thymocyte differentiation|regulation of T cell development in thymus|regulation of thymocyte cell differentiation|regulation of thymic T cell differentiation owl:Class MONDO:0016769 biolink:NamedThing linear lichen planus Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development. tmpte7i6ely_mondo_relaxed.owl Blaschkoid LP|Blaschkoid lichen planus|linear LP|llp ICD10:L43.8|Orphanet:254379|UMLS:C0023650|SCTID:44509000|GARD:0011898 https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus owl:Class MONDO:0006572 biolink:NamedThing lichen planus A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. tmpte7i6ely_mondo_relaxed.owl lichen, ruber planus|ruber planus|lichen ruber planus NCIT:C3189|ICD10:L43.9|MESH:D008010|ICD9:697.0|EFO:1000726|SCTID:4776004|DOID:9201|UMLS:C0023646|ICD10:L43 owl:Class MONDO:0008745 biolink:NamedThing oculocutaneous albinism type 1A Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. tmpte7i6ely_mondo_relaxed.owl oculocutaneous albinism caused by mutation in Tyr|tyrosinase-negative oculocutaneous albinism|oculocutaneous albinism type IA|TYR oculocutaneous albinism|albinism 1|oculocutaneous albinism caused by mutation in TYR|Tyr oculocutaneous albinism|oculocutaneous albinism, type 1|albinism, oculocutaneous, type 1A|albinism, oculocutaneous, type IA|oculocutaneous albinism, tyrosinase-negative|OCA1A Orphanet:79431|OMIM:203100|ICD9:270.2|Orphanet:352731|ICD10:E70.3|DOID:0070094|SCTID:6483008 owl:Class MONDO:0054549 biolink:NamedThing peroxisome biogenesis disorder 10B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 10B|PBD10B OMIM:617370 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100261 biolink:NamedThing peroxisome biogenesis disorder due to PEX3 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene. tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX3 defect|PEX3 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0007229 biolink:NamedThing Brachymetatarsus 4 tmpte7i6ely_mondo_relaxed.owl toe, fourth, short|metatarsus IV, short|Brachymetatarsus type 4|BRACHYMETATARSUS IV OMIM:113475 owl:Class CL:0000454 biolink:NamedThing epinephrine secreting cell A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types. tmpte7i6ely_mondo_relaxed.owl epinephrin secreting cell|adrenaline secreting cell cell owl:Class CL:0000151 biolink:NamedThing secretory cell A cell that specializes in controlled release of one or more substances. tmpte7i6ely_mondo_relaxed.owl BTO:0003659|FMA:86916 cell owl:Class MONDO:0018856 biolink:NamedThing lichen amyloidosis Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. tmpte7i6ely_mondo_relaxed.owl lichen amyloidosus|amyloid lichen Orphanet:49804|ICD10:E85.4+|ICD10:L99.0*|SCTID:718105008 owl:Class MONDO:0015301 biolink:NamedThing primary cutaneous amyloidosis Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. tmpte7i6ely_mondo_relaxed.owl primary localized cutaneous amyloidosis|amyloidosis familial cutaneous lichen|lichen amyloidosis familial|amyloidosis IX|amyloidosis, primary localized cutaneous|familial primary localized cutaneous amyloidosis|PLCA GARD:0000132|ICD10:E85.4+|MESH:C562642|ICD10:L99.0*|DOID:0050639|UMLS:C0268397|Orphanet:137807|MedDRA:10011659|SCTID:282834007 https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis owl:Class HP:0000534 biolink:NamedThing Abnormal eyebrow morphology An abnormality of the eyebrow. tmpte7i6ely_mondo_relaxed.owl Abnormality of the eyebrow UMLS:C4011556 human_phenotype owl:Class HP:0030669 biolink:NamedThing Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpte7i6ely_mondo_relaxed.owl UMLS:C4073120 human_phenotype owl:Class MONDO:0008878 biolink:NamedThing bone dysplasia, lethal Holmgren type Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl bone dysplasia lethal Holmgren type|bone dysplasia, lethal, Holmgren type|autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type OMIM:211120|Orphanet:1842|GARD:0000922|MESH:C565896|SCTID:732249002|UMLS:C1859407|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type owl:Class MONDO:0019718 biolink:NamedThing lethal chondrodysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93465 owl:Class CL:0002082 biolink:NamedThing type II cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces epinephrine. tmpte7i6ely_mondo_relaxed.owl adrenal secreting cell of the adrenal medulla|epiniphrine secreting cell of the adrenal medulla|adremergic chromaffin cell FMA:69322 tmeehan 2010-07-14T09:41:42Z cell owl:Class CL:0000336 biolink:NamedThing adrenal medulla chromaffin cell A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. tmpte7i6ely_mondo_relaxed.owl medullary chromaffin cell of adrenal gland FMA:69262 CL:1000422 cell owl:Class MONDO:0017924 biolink:NamedThing central nervous system calcification-deafness-tubular acidosis-anemia syndrome This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. tmpte7i6ely_mondo_relaxed.owl Yoshimura-Takeshita syndrome Orphanet:3240|UMLS:CN204056 owl:Class GO:0031305 biolink:NamedThing integral component of mitochondrial inner membrane The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl integral to mitochondrial inner membrane owl:Class GO:0016021 biolink:NamedThing integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl integral to membrane|transmembrane owl:Class MONDO:0024649 biolink:NamedThing optic tract astrocytoma An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. tmpte7i6ely_mondo_relaxed.owl optic tract astrocytoma (excluding glioblastoma)|visual pathway astrocytoma|optic tract astrocytoma|astrocytoma (excluding glioblastoma) of optic tract UMLS:C1336971|NCIT:C7533 owl:Class MONDO:0002109 biolink:NamedThing pituitary cancer A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the pituitary|pituitary tumor, malignant|pituitary neoplasms, malignant|malignant pituitary neoplasm|pituitary cancer|pituitary neoplasm|cancer of pituitary gland|pituitary gland cancer|malignant tumor of pituitary gland|malignant neoplasm of pituitary|malignant neoplasm of the pituitary|malignant pituitary gland tumor|malignant neoplasm of the pituitary gland|malignant tumor of the pituitary gland|pituitary gland neoplasm|malignant tumor of pituitary|malignant pituitary tumor|malignant pituitary gland neoplasm|malignant neoplasm of pituitary gland NCIT:C4769|DOID:1785|EFO:0005578|UMLS:C0496842|UMLS:C0032019|SCTID:363482009|GARD:0009371|ICD10:C75.1|SCTID:127024001|NCIT:C3330 owl:Class GO:1903707 biolink:NamedThing negative regulation of hemopoiesis Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. tmpte7i6ely_mondo_relaxed.owl downregulation of haemopoiesis|down-regulation of hematopoiesis|negative regulation of blood cell biosynthesis|down regulation of haemopoiesis|down regulation of blood cell formation|down-regulation of blood cell formation|downregulation of hemopoiesis|negative regulation of haemopoiesis|inhibition of blood cell biosynthesis|inhibition of hematopoiesis|down-regulation of hemopoiesis|down-regulation of haemopoiesis|down-regulation of blood cell biosynthesis|downregulation of blood cell formation|downregulation of blood cell biosynthesis|inhibition of hemopoiesis|down regulation of blood cell biosynthesis|down regulation of hematopoiesis|inhibition of blood cell formation|down regulation of hemopoiesis|downregulation of hematopoiesis|negative regulation of blood cell formation|inhibition of haemopoiesis|negative regulation of hematopoiesis owl:Class MONDO:0024294 biolink:NamedThing skin disorder caused by infection Skin diseases caused by bacteria, fungi, parasites, or viruses. tmpte7i6ely_mondo_relaxed.owl diseases, infectious skin|infectious skin disease|disease, infectious skin|infectious skin diseases|skin disease, infectious MESH:D012874 owl:Class MONDO:0012986 biolink:NamedThing bilateral parasagittal parieto-occipital polymicrogyria tmpte7i6ely_mondo_relaxed.owl BTOP|polymicrogyria, bilateral temporooccipital MESH:C567201|UMLS:C2675191|OMIM:612691|GARD:0010785|Orphanet:268940|Orphanet:208441|ICD10:Q04.3 https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria owl:Class GO:1905277 biolink:NamedThing negative regulation of epithelial tube formation Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation. tmpte7i6ely_mondo_relaxed.owl down regulation of epithelial tube formation|inhibition of epithelial tube formation|down-regulation of epithelial tube formation|downregulation of epithelial tube formation owl:Class GO:1905331 biolink:NamedThing negative regulation of morphogenesis of an epithelium Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium. tmpte7i6ely_mondo_relaxed.owl down regulation of epithelium morphogenesis|negative regulation of epithelium morphogenesis|inhibition of morphogenesis of an epithelium|down-regulation of morphogenesis of an epithelium|inhibition of epithelium morphogenesis|downregulation of morphogenesis of an epithelium|down-regulation of epithelium morphogenesis|down regulation of morphogenesis of an epithelium|downregulation of epithelium morphogenesis owl:Class MONDO:0000972 biolink:NamedThing gallbladder lipoma A benign adipose tissue neoplasm involving the gallbladder wall. tmpte7i6ely_mondo_relaxed.owl gallbladder lipoma|lipoma of gall bladder|lipoma of gallbladder|gall bladder lipoma|lipoma of the gallbladder UMLS:C1333747|NCIT:C5835|DOID:10201 owl:Class MONDO:0017127 biolink:NamedThing inherited soft tissue tumor An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary mesenchymal cell neoplasm|genetic mesenchymal tumor|genetic mesenchymal cell neoplasm|genetic soft tissue tumor Orphanet:271832|UMLS:CN202526 owl:Class UBERON:0007846 biolink:NamedThing dense regular connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6180 biolink:NamedThing ITPR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007465 biolink:NamedThing distichiasis with congenital anomalies of the heart and peripheral vasculature tmpte7i6ely_mondo_relaxed.owl distichiasis-congenital heart defects-peripheral vascular anomalies syndrome|distichiasis with congenital anomalies of the heart and peripheral vasculature Orphanet:1683|MESH:C565092|OMIM:126320|UMLS:C1852062 owl:Class SO:0000159 biolink:NamedThing deletion The point at which one or more contiguous nucleotides were excised. tmpte7i6ely_mondo_relaxed.owl nucleotide_deletion|nucleotide deletion|deleted_sequence owl:Class SO:0001059 biolink:NamedThing sequence_alteration A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. tmpte7i6ely_mondo_relaxed.owl partially_characterised_change_in_DNA_sequence|uncharacterised_change_in_nucleotide_sequence|sequence variation|INSDC_note:sequence_alteration|partially characterised change in DNA sequence|sequence alteration|INSDC_feature:variation|INSDC_feature:misc_feature owl:Class MONDO:0009940 biolink:NamedThing pycnodysostosis Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. tmpte7i6ely_mondo_relaxed.owl PKND|Pycd|pycnodysostosis|Pyknodysostosis Orphanet:763|GARD:0004611|ICD10:Q78.8|DOID:0080038|OMIM:265800|UMLS:C0238402|NCIT:C131187|SCTID:89647000|MESH:D058631 https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis owl:Class GO:0008654 biolink:NamedThing phospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. tmpte7i6ely_mondo_relaxed.owl phospholipid formation|phospholipid synthesis|phospholipid biosynthesis|phospholipid anabolism owl:Class MONDO:0012976 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 2B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 2B|autosomal dominant deafness 2B|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|autosomal dominant nonsyndromic deafness 2B|GJB3 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 2B|deafness, autosomal dominant type 2B|DFNA2B UMLS:C2675236|DOID:0110559|MESH:C567214|ICD10:H90.3|OMIM:612644 owl:Class UBERON:0006002 biolink:NamedThing vitelline artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004573 biolink:NamedThing systemic artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001010 biolink:NamedThing diaphysis of ulna tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004769 biolink:NamedThing diaphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013810 biolink:NamedThing COG6-CGD tmpte7i6ely_mondo_relaxed.owl CDG syndrome type IIL|CDG IIL|congenital disorder of glycosylation type 2l|CDG-IIL|CDGIIl|congenital disorder of glycosylation, type IIL|congenital disorder of glycosylation type IIL|COG6-CDG (CDG-IIL)|CDG2L GARD:0010944|DOID:0070264|Orphanet:464443|UMLS:C3553230|ICD10:E77.8|OMIM:614576 owl:Class MONDO:0005501 biolink:NamedThing congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. tmpte7i6ely_mondo_relaxed.owl B4GALT1-CDG (CDG-2d)|MOGS-CDG|MOGS-CDG (CDG-2b)|B4GALT1-CDG|MGAT2-CDG (CDG-2a)|MGAT2-CDG|congenital disorder of glycosylation type II|congenital disorders of glycosylation, type II OMIM:607091|DOID:0050571|MESH:C535747|OMIM:613612|OMIM:603585|OMIM:606056|OMIM:266265|OMIM:300896|OMIM:608779|OMIM:613489|OMIMPS:212066|OMIM:611182|OMIM:614576|OMIM:611209|EFO:0005546|OMIM:212066|OMIM:616829|OMIM:614727|OMIM:616721|OMIM:616828 owl:Class NCBITaxon:2732422 biolink:NamedThing Quintoviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732415 biolink:NamedThing Cossaviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0010557 biolink:NamedThing positive regulation of macromolecule biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009891 biolink:NamedThing positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpte7i6ely_mondo_relaxed.owl up-regulation of biosynthetic process|upregulation of biosynthetic process|positive regulation of synthesis|positive regulation of formation|positive regulation of biosynthesis|positive regulation of anabolism|up regulation of biosynthetic process|stimulation of biosynthetic process|activation of biosynthetic process owl:Class CL:0002364 biolink:NamedThing cortical thymic epithelial cell An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. tmpte7i6ely_mondo_relaxed.owl cTEC BTO:0004562 tmeehan 2010-09-23T03:17:12Z cell owl:Class CL:0002293 biolink:NamedThing epithelial cell of thymus An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. tmpte7i6ely_mondo_relaxed.owl epithelial reticular cell|epithelial reticular cell of thymus|thymic epithelial cell|epithelial cell of thymus gland CALOHA:TS-1040|FMA:72208 tmeehan 2010-09-13T02:34:22Z CL:1000459 cell owl:Class MONDO:0008488 biolink:NamedThing holoprosencephaly-radial heart renal anomalies syndrome Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. tmpte7i6ely_mondo_relaxed.owl STEINFELD syndrome|holoprosencephaly radial heart renal anomalies|Steinfeld syndrome ICD10:Q87.8|OMIM:184705|UMLS:C1866649|Orphanet:3186|MESH:C566655|SCTID:716233007|GARD:0002727 https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome owl:Class ECTO:0000259 biolink:NamedThing exposure to glucocorticoid An exposure to glucocorticoid. tmpte7i6ely_mondo_relaxed.owl exposure to glucocorticoid owl:Class ECTO:0000173 biolink:NamedThing exposure to corticosteroid An exposure to corticosteroid. tmpte7i6ely_mondo_relaxed.owl exposure to corticosteroid owl:Class MONDO:0011288 biolink:NamedThing spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal tmpte7i6ely_mondo_relaxed.owl spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal OMIM:603117|UMLS:C1864185|MESH:C566409 owl:Class MONDO:0014731 biolink:NamedThing seizures-scoliosis-macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. tmpte7i6ely_mondo_relaxed.owl SSM syndrome|seizures, scoliosis, and macrocephaly syndrome|SSMS Orphanet:466926|UMLS:C4225248|GARD:0009960|OMIM:616682 owl:Class MONDO:0012794 biolink:NamedThing ANE syndrome ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. tmpte7i6ely_mondo_relaxed.owl anes|ANE syndrome|alopecia, neurologic defects, and endocrinopathy syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome UMLS:C2677535|MESH:C567425|OMIM:612079|Orphanet:157954 owl:Class MONDO:0020297 biolink:NamedThing Noonan syndrome and Noonan-related syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN166718|MESH:C537846|Orphanet:98733 owl:Class MONDO:0024573 biolink:NamedThing familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. tmpte7i6ely_mondo_relaxed.owl hypertrophic familial cardiomyopathy|familial hypertrophic cardiomyopathy|hereditary hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic|familila or idiopathic hypertrophic obstructive cardiomyopathy Orphanet:155|MESH:D024741|NCIT:C84773|GARD:0007229|SCTID:471885006|DOID:0080326|OMIMPS:192600 owl:Class CHEBI:79387 biolink:NamedThing trivalent inorganic anion Any inorganic anion with a valency of three. tmpte7i6ely_mondo_relaxed.owl trivalent inorganic anions owl:Class CHEBI:24834 biolink:NamedThing inorganic anion tmpte7i6ely_mondo_relaxed.owl inorganic anions owl:Class GO:0042157 biolink:NamedThing lipoprotein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpte7i6ely_mondo_relaxed.owl lipoprotein metabolism owl:Class GO:0019538 biolink:NamedThing protein metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. tmpte7i6ely_mondo_relaxed.owl protein metabolism and modification|protein metabolism|multicellular organismal protein metabolic process|protein metabolic process and modification owl:Class UBERON:0001216 biolink:NamedThing jejunal vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7788 biolink:NamedThing NFIX tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1262365 biolink:NamedThing Tabanoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43735 biolink:NamedThing Tabanomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002347 biolink:NamedThing thoracic vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015008 biolink:NamedThing thoracic vertebra endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:213115 biolink:NamedThing Desulfovibrionales tmpte7i6ely_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:28221 biolink:NamedThing Deltaproteobacteria tmpte7i6ely_mondo_relaxed.owl delta subdivision|Deltabacteria Cavalier-Smith 2002|Purple bacteria, delta subdivision|delta subgroup|delta proteobacteria|d-proteobacteria|"Deltabacteria" Cavalier-Smith 1992|Myxococcia|Proteobacteria delta subdivision PMID:16403855|PMID:28771119|PMID:11837318|PMID:33151140|GC_ID:11|PMID:27453056 NCBITaxon:32015 ncbi_taxonomy owl:Class MONDO:0017932 biolink:NamedThing muscular hypertrophy-hepatomegaly-polyhydramnios syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN204070|Orphanet:324416 owl:Class MONDO:0000831 biolink:NamedThing thrombotic disease The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. tmpte7i6ely_mondo_relaxed.owl Clots, blood|blood clot|clot, blood|thrombus|Thromboses|thrombosis|thrombotic disorder|blood Clots MESH:D013927|SCTID:439127006|DOID:0060903|ICD9:453.9|NCIT:C26891 owl:Class MONDO:0005385 biolink:NamedThing vascular disorder A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. tmpte7i6ely_mondo_relaxed.owl vascular disorder|vasculopathy|disorder of vasculature|vascular tissue disease|vasculature disease|vasculature disease or disorder|disease or disorder of vasculature|disease of vasculature MESH:D014652|UMLS:C0042373|ICD9:442.9|NCIT:C26693|EFO:0004264|ICD10:I72.9|SCTID:27550009|DOID:178|NCIT:C35117 The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for “vasculitis” that has not been pathologically established. https://github.com/monarch-initiative/mondo/issues/3602 owl:Class MONDO:0019787 biolink:NamedThing autoimmune enteropathy Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. tmpte7i6ely_mondo_relaxed.owl severe immune-mediated enteropathy|immune-mediated protracted diarrhea of infancy MESH:C538273|SCTID:235728001|UMLS:C0341305|ICD9:279.49|Orphanet:94075|GARD:0008689|NCIT:C94694 owl:Class MONDO:0020598 biolink:NamedThing malabsorption syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. tmpte7i6ely_mondo_relaxed.owl malabsorption syndrome|malabsorption SCTID:32230006|NCIT:C3214|UMLS:C0024523|MESH:D008286 owl:Class MONDO:0014234 biolink:NamedThing reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. tmpte7i6ely_mondo_relaxed.owl reticulate acropigmentation of Kitamura|RAK|Kitamura reticulate acropigmentation|RAPK|acropigmentatio reticularis|reticulate pigmentation of Kitamura ICD9:709.09|Orphanet:178307|DOID:0060258|ICD10:L81.8|MESH:C562924|OMIM:615537|SCTID:239133004 owl:Class MONDO:0000118 biolink:NamedThing reticulate pigment disorder tmpte7i6ely_mondo_relaxed.owl reticulate pigment disorders OMIMPS:179850 owl:Class MONDO:0003588 biolink:NamedThing larynx liposarcoma A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement. tmpte7i6ely_mondo_relaxed.owl lip larynx sarcoma|liposarcoma of the larynx|laryngeal liposarcoma|larynx liposarcoma|liposarcoma of larynx NCIT:C6021|DOID:5696|UMLS:C1334372 owl:Class MONDO:0002448 biolink:NamedThing laryngeal sarcoma A rare malignant soft tissue neoplasm that arises from the larynx. tmpte7i6ely_mondo_relaxed.owl sarcoma of larynx|sarcoma of the larynx|larynx sarcoma|laryngeal sarcoma UMLS:C1334377|DOID:2877|NCIT:C6020 owl:Class HGNC:9864 biolink:NamedThing RARA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017589 biolink:NamedThing follicular cholangitis and pancreatitis Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts. tmpte7i6ely_mondo_relaxed.owl follicular pancreatocholangitis Orphanet:300552 owl:Class MONDO:0002356 biolink:NamedThing pancreas disorder A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. tmpte7i6ely_mondo_relaxed.owl disease or disorder of pancreas|disease, pancreatic|disorder of pancreas|pancreas disease|pancreatic disease|disease of pancreas|diseases, pancreatic|pancreas disease or disorder|pancreatic disorder ICD9:577.8|ICD9:577.9|ICD10:K86.8|DOID:26|MESH:D010182|SCTID:3855007|NCIT:C26842 owl:Class MONDO:0015905 biolink:NamedThing syndromic dyslipidemia A inherited lipid metabolism disorder that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl rare syndromic dyslipidemia|complex dyslipidemia|syndrome associated with inherited lipid metabolism disorder|syndromic inherited lipid metabolism disorder UMLS:C3875286|SCTID:109041000119107|Orphanet:181437 owl:Class MONDO:0016311 biolink:NamedThing Bockenheimer syndrome tmpte7i6ely_mondo_relaxed.owl genuine diffuse phlebectasia UMLS:CN201119|ICD10:Q27.4|GARD:0013063|Orphanet:217008 owl:Class GO:1900119 biolink:NamedThing positive regulation of execution phase of apoptosis Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. tmpte7i6ely_mondo_relaxed.owl activation of execution phase of apoptosis|up-regulation of execution phase of apoptosis|up regulation of execution phase of apoptosis|upregulation of execution phase of apoptosis owl:Class MONDO:0020421 biolink:NamedThing coronary artery intramyocardial course tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99085 owl:Class MONDO:0019826 biolink:NamedThing abnormal origin or aberrant course of coronary artery tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.5|Orphanet:95493 owl:Class MONDO:0020746 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome 1B tmpte7i6ely_mondo_relaxed.owl OMIM:618469 owl:Class MONDO:0009926 biolink:NamedThing autosomal recessive multiple pterygium syndrome A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. tmpte7i6ely_mondo_relaxed.owl multiple pterygium syndrome|autosomal recessive non-lethal multiple pterygium syndrome|Escobar syndrome|multiple pterygium syndrome, ESCOBAR variant|multiple pterygium syndrome nonlethal type|pterygium syndrome|pterygium Universale|multiple pterygium syndrome, Nonlethal type|autosomal recessive multiple pterygium syndrome|pterygium colli syndrome|multiple pterygium syndrome, autosomal recessive|Escobar variant multiple pterygium syndrome|pterygium universale|EVMPS|multiple pterygium syndrome Escobar type GARD:0007111|OMIM:265000|UMLS:CN203342|ICD9:759.89|SCTID:80773006|Orphanet:2990|NCIT:C101039|ICD10:Q79.8 https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type owl:Class GO:0034755 biolink:NamedThing iron ion transmembrane transport A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl transmembrane iron transport|iron(2+) transmembrane transport|high affinity ferrous ion transmembrane transport|iron ion membrane transport|ferrous iron transmembrane transport|ferrous ion transmembrane transport|low affinity iron ion transport|high-affinity iron ion transmembrane transport|high-affinity ferrous ion transmembrane transport|high affinity iron ion transport|high-affinity iron ion transport|low-affinity iron ion transmembrane transport|low-affinity iron ion transport owl:Class GO:0006826 biolink:NamedThing iron ion transport The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl iron ion import|ferrous ion transport|ferric iron transport|ferric iron import|ferric iron uptake|ferrous iron transport|ferric ion import|ferric ion transport|iron transport owl:Class GO:0051703 biolink:NamedThing biological process involved in intraspecies interaction between organisms Any process in which an organism has an effect on an organism of the same species. tmpte7i6ely_mondo_relaxed.owl intraspecies interaction with other organisms|intraspecies interaction between organisms owl:Class GO:0008150 biolink:NamedThing biological_process A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. tmpte7i6ely_mondo_relaxed.owl single-organism process|biological process|single organism process|physiological process owl:Class GO:2000385 biolink:NamedThing positive regulation of ectoderm development Any process that activates or increases the frequency, rate or extent of ectoderm development. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051094 biolink:NamedThing positive regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpte7i6ely_mondo_relaxed.owl stimulation of developmental process|upregulation of developmental process|activation of developmental process|up regulation of developmental process|up-regulation of developmental process owl:Class HGNC:13164 biolink:NamedThing CNBP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000358 biolink:NamedThing orofacial cleft tmpte7i6ely_mondo_relaxed.owl OMIM:600757|DOID:0050567|OMIM:119530|OMIM:610361|OMIMPS:119530|SCTID:449790007|OMIM:602966|OMIM:608864|OMIM:612858|UMLS:CN221583|OMIM:613705|OMIM:615892|OMIM:600625|OMIM:608874|OMIM:608371|OMIM:613857 Editor notes: most subtypes are isolated owl:Class MONDO:0005279 biolink:NamedThing pulmonary embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. tmpte7i6ely_mondo_relaxed.owl pulmonary artery embolism|pulmonary embolism (disease)|pulmonary embolus|embolism, pulmonary|pulmonary embolism pulmonary embolism (disease) ICD10:I26.99|HP:0002204|UMLS:C0034065|ICD10:I26|NCIT:C50713|MESH:D011655|ICD9:415.19|EFO:0003827|SCTID:59282003|DOID:9477 owl:Class MONDO:0015494 biolink:NamedThing isolated dystonia A dystonia (disease) that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic dystonic disorder|nonsyndromic dystonia (disease)|Pure dystonia|isolated dystonic disorder ICD10:G24.1|Orphanet:156159 owl:Class MONDO:0003441 biolink:NamedThing dystonic disorder A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. tmpte7i6ely_mondo_relaxed.owl dystonia disorders|dystonia disorder|dystonia|dystonic disorder|dystonic disease MESH:D020821|DOID:543|HP:0001332|ICD9:333.90|NCIT:C34563|SCTID:15802004|ICD10:G24.9|ICD10:G24 owl:Class MONDO:0001788 biolink:NamedThing nutmeg liver tmpte7i6ely_mondo_relaxed.owl chronic passive congestion of liver UMLS:C0156195|ICD9:573.0|DOID:13739|SCTID:34736002|ICD10:K76.1 owl:Class MONDO:0003215 biolink:NamedThing apocrine sweat gland cancer A malignant neoplasm involving the apocrine sweat gland. tmpte7i6ely_mondo_relaxed.owl malignant apocrine neoplasm|malignant apocrine sweat gland neoplasm|malignant apocrine skin tumor|malignant apocrine tumor of skin|cancer of apocrine sweat gland|malignant apocrine tumor|malignant neoplasm of apocrine sweat gland|malignant apocrine neoplasm of the skin|apocrine sweat gland cancer|malignant apocrine tumor of the skin|malignant apocrine skin neoplasm|malignant apocrine neoplasm of skin DOID:4934|UMLS:C1334561|NCIT:C6800 owl:Class MONDO:0003686 biolink:NamedThing apocrine sweat gland neoplasm A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma. tmpte7i6ely_mondo_relaxed.owl apocrine tumor of the skin|neoplasm of apocrine sweat gland|apocrine skin tumor|apocrine tumor of skin|apocrine tumor|tumor of apocrine sweat gland|apocrine neoplasm|apocrine skin neoplasm|apocrine neoplasm of the skin|apocrine neoplasm of skin|apocrine sweat gland tumor|apocrine sweat gland neoplasm (disease) DOID:5876|UMLS:C1332318|NCIT:C6798 owl:Class GO:0072521 biolink:NamedThing purine-containing compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpte7i6ely_mondo_relaxed.owl purine and derivative metabolic process|purine-containing compound metabolism owl:Class GO:0006725 biolink:NamedThing cellular aromatic compound metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl aromatic compound metabolism|aromatic hydrocarbon metabolism|aromatic hydrocarbon metabolic process owl:Class GO:2000027 biolink:NamedThing regulation of animal organ morphogenesis Any process that modulates the frequency, rate or extent of animal organ morphogenesis. tmpte7i6ely_mondo_relaxed.owl regulation of histogenesis and organogenesis owl:Class MONDO:0017882 biolink:NamedThing Omsk hemorrhagic fever Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. tmpte7i6ely_mondo_relaxed.owl ICD10:A98.1|GARD:0008254|Orphanet:319266|UMLS:C0019103|MESH:D006481|DOID:992|ICD9:065.1|SCTID:48113006|MedDRA:10030310 https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever owl:Class MONDO:0018087 biolink:NamedThing viral hemorrhagic fever A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging. tmpte7i6ely_mondo_relaxed.owl viral haemorrhagic fever|VHF|haemorrhagic fevers, viral|hemorrhagic fever|VHFs|haemorrhagic fever|hemorrhagic fevers SCTID:240523007|Orphanet:341|UMLS:CN204409|UMLS:C0019104|NCIT:C36170|MESH:D006482|UMLS:C0282687|GARD:0005494 https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever owl:Class CL:0000956 biolink:NamedThing pre-B-I cell A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein. tmpte7i6ely_mondo_relaxed.owl pre-BI cell|pro-B cell (Philadelphia nomenclature) Human pre-B-I cells are reportedly CD10-positive, CD19-positive, CD22-positive, CD38-positive, CD45-low, CD79a-positive, CD127-negative, pre-BCR-negative, IgM-negative, IgD-negative, and Tdt-positive. Transcription factors expressed: Pax5-positive. cell owl:Class CL:0000817 biolink:NamedThing precursor B cell A precursor B cell is a B cell with the phenotype CD10-positive. tmpte7i6ely_mondo_relaxed.owl pre-B cell CALOHA:TS-0819|BTO:0001133 cell owl:Class HGNC:4217 biolink:NamedThing GDF2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000501 biolink:NamedThing granulosa cell A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors. tmpte7i6ely_mondo_relaxed.owl granulosa cell of ovary FMA:18718|BTO:0000542|CALOHA:TS-0729 cell owl:Class CL:0000174 biolink:NamedThing steroid hormone secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class UBERON:0008339 biolink:NamedThing microvascular endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004852 biolink:NamedThing cardiovascular system endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005013 biolink:NamedThing dedifferentiated chondrosarcoma An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. tmpte7i6ely_mondo_relaxed.owl DDCHS|Dedifferentiated chondrosarcoma UMLS:C0862878|NCIT:C6476|EFO:0000394|ONCOTREE:DDCHS|ICDO:9243/3 owl:Class MONDO:0000515 biolink:NamedThing bone chondrosarcoma A chondrosarcoma (disease) that involves the bone tissue. tmpte7i6ely_mondo_relaxed.owl chondrosarcoma (disease) of bone tissue|bone tissue chondrosarcoma (disease) DOID:0050897 owl:Class GO:1903335 biolink:NamedThing regulation of vacuolar transport Any process that modulates the frequency, rate or extent of vacuolar transport. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060548 biolink:NamedThing negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000525 biolink:NamedThing syncytiotrophoblast cell A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy. tmpte7i6ely_mondo_relaxed.owl plasmidotrophoblast|syntrophoblast|syncytial trophoblast FMA:83043 cell owl:Class CL:2000060 biolink:NamedThing placental villous trophoblast A trophoblast of placental villi. These cells fuse to form synctial trophoplast - the placental side of the interface between the placenta and maternal blood sinusoids in the decidua. tmpte7i6ely_mondo_relaxed.owl villous cytotrophoblast|vCTB BTO:0006208|BTO:0006119 Same as synctial trophoblast? TermGenie 2014-10-07T17:48:27Z cell http://www.sciencellonline.com/site/productInformation.php?keyword=7120 owl:Class CHEBI:26020 biolink:NamedThing phosphate Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. tmpte7i6ely_mondo_relaxed.owl phosphates owl:Class CHEBI:26079 biolink:NamedThing phosphoric acid derivative tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023521 biolink:NamedThing Judge Misch wright syndrome tmpte7i6ely_mondo_relaxed.owl dry skin, photophobia hyperkeratosis, abnormal fingernails|keratodermia palmoplantar periorificial|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia UMLS:C2931590|GARD:0003061|MESH:C537692 https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome owl:Class MONDO:0006548 biolink:NamedThing facial dermatosis Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder. tmpte7i6ely_mondo_relaxed.owl UMLS:C0015456|DOID:3134|EFO:1000698|MESH:D005148 owl:Class MONDO:0012431 biolink:NamedThing diaphragmatic hernia 3 Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene. tmpte7i6ely_mondo_relaxed.owl ZFPM2 congenital diaphragmatic hernia|DIH3|congenital diaphragmatic hernia caused by mutation in ZFPM2|diaphragmatic hernia type 3|diaphragmatic hernia 3 MESH:C565710|Orphanet:2140|OMIM:610187 owl:Class HGNC:19237 biolink:NamedThing NANS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004868 biolink:NamedThing biliary tract disorder A disease involving the biliary tree. tmpte7i6ely_mondo_relaxed.owl disorder of biliary tree|biliary tree disease or disorder|biliary tree disease|disease or disorder of biliary tree|disease of biliary tree SCTID:105997008|ICD9:576.9|MESH:D001660|DOID:9741|ICD10:K83.9 owl:Class MONDO:0002515 biolink:NamedThing hepatobiliary disorder A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. tmpte7i6ely_mondo_relaxed.owl hepatobiliary disorder|disease of hepatobiliary system|liver and biliary disorder|liver and biliary disease|hepatobiliary system disease|disease or disorder of hepatobiliary system|hepatobiliary system disease or disorder|liver and biliary tract disease|liver and biliary system disorder|disorder of hepatobiliary system NCIT:C3959|UMLS:C0267792|DOID:3118 owl:Class ECTO:0000516 biolink:NamedThing exposure to hormone An exposure to hormone. tmpte7i6ely_mondo_relaxed.owl exposure to hormone owl:Class ECTO:0000672 biolink:NamedThing exposure to agonist An exposure to agonist. tmpte7i6ely_mondo_relaxed.owl exposure to agonist owl:Class GO:0070092 biolink:NamedThing regulation of glucagon secretion Any process that modulates the frequency, rate or extent of the regulated release of glucagon. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024523 biolink:NamedThing aortic valve disease 1 Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. tmpte7i6ely_mondo_relaxed.owl aortic valve disease caused by mutation in NOTCH1|aortic stenosis, calcific|aortic valve, bicuspid|bicuspid aortic valve|aortic valve disease 1|NOTCH1 aortic valve disease|aortic valve disease caused by mutation in Notch1|AOVD1|aortic valve disease|Notch1 aortic valve disease|aortic valve, calcification of Orphanet:402075|UMLS:C3887892|UMLS:C1260873|DOID:0080333|OMIM:109730 owl:Class MONDO:0003803 biolink:NamedThing aortic valve disorder A disease involving the aortic valve. tmpte7i6ely_mondo_relaxed.owl aortic valve disease|aortic valve disorder|aortic valve disease or disorder|disease of aortic valve|disorder of aortic valve|disease or disorder of aortic valve NCIT:C78650|DOID:62|ICD9:424.1|ICD9:395|UMLS:C1260873 owl:Class GO:0051983 biolink:NamedThing regulation of chromosome segregation Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000029 biolink:NamedThing lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000062 biolink:NamedThing organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011603 biolink:NamedThing GNE myopathy Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. tmpte7i6ely_mondo_relaxed.owl inclusion body myopathy type 2|NM|distal myopathy with rimmed vacuoles|DMRV|inclusion body myopathy, hereditary, autosomal recessive|myopathy, distal, with or without rimmed vacuoles|inclusion body myopathy, autosomal recessive|myopathy, distal, with rimmed vacuoles|Nonaka distal myopathy|inclusion body myopathy 2, autosomal recessive|inclusion body myopathy, quadriceps-sparing|inclusion body myopathy 2, autosomal recessive, formerly|QSM|Nonaka myopathy|quadriceps sparing myopathy|rimmed vacuole myopathy|HIBM2|quadriceps-sparing myopathy|distal myopathy, Nonaka type|hereditary inclusion body myopathy type 2|IBM2|inclusion body myopathy autosomal recessive OMIM:617158|ICD10:G71.8|SCTID:702382000|Orphanet:602|GARD:0009493|OMIM:605820 owl:Class MONDO:0013602 biolink:NamedThing paragangliomas 5 Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene. tmpte7i6ely_mondo_relaxed.owl paraganglioma caused by mutation in SDHA|paragangliomas 5|paragangliomas type 5|PGL5|SDHA paraganglioma UMLS:C3279992|Orphanet:29072|OMIM:614165 owl:Class MONDO:0017366 biolink:NamedThing hereditary pheochromocytoma-paraganglioma Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). tmpte7i6ely_mondo_relaxed.owl SDHx-related paraganglioma-pheochromocytoma|hereditary pheochromocytoma-paraganglioma|familial pheochromocytoma-paraganglioma|hereditary paraganglioma-pheochromocytoma OMIM:171300|GARD:0011984|OMIM:168000|OMIM:115310|OMIM:601650|ICD10:C75.5|Orphanet:29072|ICD10:D35.0|ICD10:C74.1|OMIM:605373|OMIM:614165|UMLS:C1708353|ICD10:D35.6 https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma owl:Class GO:0006721 biolink:NamedThing terpenoid metabolic process The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. tmpte7i6ely_mondo_relaxed.owl terpenoid metabolism owl:Class GO:0006720 biolink:NamedThing isoprenoid metabolic process The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. tmpte7i6ely_mondo_relaxed.owl polyisoprenoid metabolism|polyterpene metabolism|polyisoprenoid metabolic process|polyterpene metabolic process|isoprenoid metabolism owl:Class MONDO:0016116 biolink:NamedThing generalized bulbospinal muscular atrophy tmpte7i6ely_mondo_relaxed.owl Orphanet:206710|ICD10:G12.2 owl:Class MONDO:0016113 biolink:NamedThing bulbospinal muscular atrophy tmpte7i6ely_mondo_relaxed.owl spinal-bulbar muscular atrophy|spinal and bulbal muscular atrophy|SBMA|bulbospinal muscular atrophy ICD10:G12.2|SCTID:230253001|Orphanet:206701 owl:Class UBERON:0014401 biolink:NamedThing renal venous blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003517 biolink:NamedThing kidney blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004653 biolink:NamedThing atypical chronic myeloid leukemia, BCR-ABL1 negative A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl aCML|subacute myelogenous leukemia|atypical chronic myeloid leukemia, BCR-ABL1 Negative|subacute granulocytic leukemia|subacute myeloid leukemia|atypical chronic myeloid leukemia|atypical CML SCTID:277589003|DOID:8747|ICDO:9876/3|NCIT:C3519 owl:Class MONDO:0006311 biolink:NamedThing myelodysplastic/myeloproliferative Neoplasm A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. tmpte7i6ely_mondo_relaxed.owl myelodysplastic/myeloproliferative disorders|myelodysplastic myeloproliferative cancer|myelodysplastic/myeloproliferative disease|MDS-MPD|MDS/MPN|myeloproliferative/myelodysplastic syndromes|myelodysplastic myeloproliferative disease|myeloproliferative/myelodysplastic disorders|myelodysplastic/myeloproliferative diseases|myelodysplastic/myeloproliferative disorder|myelodysplastic/myeloproliferative Neoplasm|MPD/MDS|MPD-MDS|MDS/MPD|myelodysplastic/myeloproliferative neoplasms ICDO:9975/3|NCIT:C27262|DOID:4972|SCTID:445738007|ONCOTREE:MDS%2FMPN|EFO:1000388 owl:Class MONDO:0014886 biolink:NamedThing severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 55|intellectual disability, autosomal recessive 55|mental retardation, autosomal recessive type 55|intellectual disability, autosomal recessive type 55|MRT55 UMLS:C4310745|Orphanet:488627|OMIM:617051 owl:Class MONDO:0000171 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type A tmpte7i6ely_mondo_relaxed.owl Pagon syndrome|hydrocephalus, agyria and retinal dysplasia|cerebroocular dysgenesis|Warburg syndrome|WWS|Chemke syndrome|hard +/- E syndrome|Walker-Warburg syndrome|hard syndrome|Walker-Warburg muscular dystrophy|hydrocephalus-agyria-retinal dysplasia syndrome|cerebroocular dysplasia muscular dystrophy syndrome|cerebroocular dysplasia-muscular dystrophy syndrome ICD10:Q04.3|OMIM:616538|OMIM:253800|OMIMPS:236670|OMIM:253280|UMLS:CN239483|OMIM:615249|OMIM:614643|OMIM:613154|GARD:0002599|Orphanet:899|MESH:D058494|DOID:0050560|OMIM:236670|OMIM:615041|NCIT:C99109|OMIM:614830|SCTID:111504002|OMIM:613150|OMIM:615181|OMIM:615287|OMIM:613153 owl:Class MONDO:0700068 biolink:NamedThing myopathy caused by variation in POMGNT1 Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene. tmpte7i6ely_mondo_relaxed.owl POMGNT1-related myopathy|myopathy caused by mutation in POMGNT1|POMGNT1 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0000632 biolink:NamedThing uterine benign neoplasm A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp. tmpte7i6ely_mondo_relaxed.owl uterine tumors, benign|Uterous neoplasms, benign|benign tumor of the uterus|uterus benign neoplasm|benign neoplasm of uterus|benign uterus neoplasm|benign uterine neoplasms|benign uterine tumors|benign neoplasm of the uterus|benign tumor of uterus|benign uterus tumor|benign uterine tumor|Uterous tumors, benign|benign uterine neoplasm|benign uterus tumors|uterine neoplasms, benign|benign uterus neoplasms ICD9:219.8|ICD9:219.9|NCIT:C3609|DOID:0060095|SCTID:92470003|UMLS:C0153999 owl:Class MONDO:0008982 biolink:NamedThing central areolar choroidal dystrophy A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. tmpte7i6ely_mondo_relaxed.owl choroidal dystrophy, central areolar, 1|CACD|choroidal dystrophy|central areolar choroidal sclerosis|areolar atrophy of the macula|choroidal dystrophy central areolar|CACD1 OMIM:215500|OMIMPS:215500|OMIM:613144|OMIM:613105|MESH:C535358|SCTID:231996009|GARD:0010049|ICD9:363.54|ICD10:H31.2|SCTID:312918002|Orphanet:75377 owl:Class MONDO:0002311 biolink:NamedThing retinal vascular disorder Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. tmpte7i6ely_mondo_relaxed.owl retina circulation disorder|retinal vascular disorder UMLS:C0154833|NCIT:C35170|SCTID:57534004|ICD9:362.13|DOID:2462 owl:Class UBERON:0005845 biolink:NamedThing caudal segment of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005844 biolink:NamedThing spinal cord segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007486 biolink:NamedThing hereditary benign intraepithelial dyskeratosis A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. tmpte7i6ely_mondo_relaxed.owl HBID|hereditary benign corneal intraepithelial dyskeratosis|Witkop-Von Sallmann disease|dyskeratosis, hereditary benign intraepithelial|Dkbi MESH:C562551|UMLS:C0265966|SCTID:400014002|Orphanet:352657|OMIM:127600|NCIT:C3940|ICD10:Q82.8 owl:Class MONDO:0020215 biolink:NamedThing syndromic corneal dystrophy A corneal dystrophy (disease) that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with corneal dystrophy (disease)|syndromic corneal dystrophy (disease) Orphanet:98628|UMLS:CN227823 owl:Class MONDO:0022060 biolink:NamedThing calloso-genital dysplasia tmpte7i6ely_mondo_relaxed.owl primary amenorrhoea with coloboma and total agenesis of the corpus callosum UMLS:C2931677|MESH:C537962|GARD:0001055 https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia owl:Class MONDO:0001836 biolink:NamedThing amenorrhea The absence of menses in a woman who has achieved reproductive age. tmpte7i6ely_mondo_relaxed.owl amenorrhea|amenia|amenorrhea (disease)|absence of menstruation amenorrhea (disease) DOID:13938|MESH:D000568|HP:0000141|UMLS:C0002453|NCIT:C61443|ICD9:626.0|ICD10:N91.2 owl:Class MONDO:8000011 biolink:NamedThing visceral neuropathy, familial, 1, autosomal recessive A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. tmpte7i6ely_mondo_relaxed.owl visceral neuropathy familial|pseudoobstruction chronic idiopathic intestinal neuronal type|Argyrophil myenteric plexus, deficiency of|Argyrophil myenteric plexus deficiency of|intestinal pseudoobstruction due to neuronal disease|neuronal intestinal dysplasia, type a|pseudoobstruction, chronic idiopathic intestinal, neuronal type|NID A|visceral neuropathy, familial, autosomal recessive UMLS:C1855733|OMIM:243180|Orphanet:99811|MESH:C537394|GARD:0003969|ICD10:K59.8|Orphanet:2978 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000858 biolink:NamedThing neuronal intestinal dysplasia tmpte7i6ely_mondo_relaxed.owl UMLS:C0345244|ICD9:751.5|OMIM:243180|OMIM:601223|DOID:0080072|SCTID:253783001 owl:Class MONDO:0100019 biolink:NamedThing ECHS1-related paroxysmal dyskinesia A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years. tmpte7i6ely_mondo_relaxed.owl ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia 2018-05-25 21:46:36+00:00 owl:Class MONDO:0015427 biolink:NamedThing paroxysmal dyskinesia Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome). tmpte7i6ely_mondo_relaxed.owl paroxysmal dystonic choreoathetosis|paroxysmal choreoathetosis Orphanet:1431|SCTID:49949003|ICD10:G24.8|ICD9:333.5 owl:Class MONDO:8000008 biolink:NamedThing Martsolf syndrome 1 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl MARTSOLF syndrome|cataract-intellectual disability-hypogonadism|cataract-intellectual disability-hypogonadism syndrome|cataract-mental retardation-hypogonadism|Martsolf syndrome ICD10:Q87.8|MESH:C536028|Orphanet:1387|GARD:0003406|DOID:0111586|SCTID:722380003|UMLS:C0796037|OMIM:212720 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100129 biolink:NamedThing intracranial arachoid cyst A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. tmpte7i6ely_mondo_relaxed.owl intracranial arachnoid cysts|arachnoid cysts, intracranial OMIM:207790 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008813 biolink:NamedThing arachnoid cyst Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) tmpte7i6ely_mondo_relaxed.owl arachnoid cysts OMIM:182990|Orphanet:2356|MedDRA:10049005|UMLS:C0078981|GARD:0000017|SCTID:33595009|NCIT:C3455|MESH:D016080|ICD10:G93.0 https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts owl:Class HP:0002846 biolink:NamedThing Abnormal B cell morphology A structural abnormality of B cells. tmpte7i6ely_mondo_relaxed.owl Abnormality of B cells|Abnormal B cells UMLS:C4021748 B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. human_phenotype owl:Class HP:0004332 biolink:NamedThing Abnormal lymphocyte morphology An abnormality of lymphocytes. tmpte7i6ely_mondo_relaxed.owl Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage SNOMEDCT_US:250284007|UMLS:C0427546 A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. peter 2008-02-28T06:46:00Z HP:0001887|HP:0012140 human_phenotype owl:Class HP:0011042 biolink:NamedThing Abnormal blood potassium concentration An abnormal concentration of potassium. tmpte7i6ely_mondo_relaxed.owl Abnormal blood K concentration|Abnormality of potassium homeostasis UMLS:C4023575 peter 2011-03-09T11:00:32Z human_phenotype owl:Class OBO:CP_0000035 biolink:NamedThing polychromatophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. tmpte7i6ely_mondo_relaxed.owl tmeehan 2009-12-28T04:25:23Z cell owl:Class CL:0000031 biolink:NamedThing neuroblast (sensu Vertebrata) A cell that will develop into a neuron often after a migration phase. tmpte7i6ely_mondo_relaxed.owl neuroblast FMA:70563|BTO:0000930 CL:0000337 cell owl:Class CL:0000055 biolink:NamedThing non-terminally differentiated cell A precursor cell with a limited number of potential fates. tmpte7i6ely_mondo_relaxed.owl blast cell FMA:84782|BTO:0000125 define using PATO mulit-potent or oligopotent? cell owl:Class HP:0002069 biolink:NamedThing Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. tmpte7i6ely_mondo_relaxed.owl Seizures, tonic-clonic|Generalized convulsion|Generalised convulsion|Grand mal|Bilateral convulsive seizures|Tonic-clonic convulsion|Tonic-clonic convulsions|Grand mal seizures|Generalized tonic-clonic seizure (without specification of onset)|Generalised tonic-clonic seizure (without specification of onset) MSH:D012640|SNOMEDCT_US:54200006|UMLS:C0494475 A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. HP:0001306|HP:0007252|HP:0002407 human_phenotype owl:Class HP:0001250 biolink:NamedThing Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. tmpte7i6ely_mondo_relaxed.owl Epilepsy|Seizures|Epileptic seizure SNOMEDCT_US:313307000|UMLS:C0014544|MSH:D004827|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|UMLS:C0036572|SNOMEDCT_US:91175000|MSH:D012640|SNOMEDCT_US:84757009 A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. HP:0001303|HP:0002182|HP:0002417|HP:0002434|HP:0002430|HP:0002279|HP:0010520|HP:0002432|HP:0002437|HP:0002466|HP:0002391|HP:0002306|HP:0002431|HP:0002479|HP:0002125|HP:0002348|HP:0001275|HP:0006997|HP:0002794 human_phenotype owl:Class CL:0002076 biolink:NamedThing endo-epithelial cell An epithelial cell derived from endoderm. tmpte7i6ely_mondo_relaxed.owl FMA:69075 tmeehan 2010-06-29T03:38:14Z cell owl:Class HGNC:9121 biolink:NamedThing PMS1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002013 biolink:NamedThing GlyA-positive basophillic erythroblast A basophilic erythroblast that is GlyA-positive. tmpte7i6ely_mondo_relaxed.owl Markers are associated with human cells. tmeehan 2010-04-26T10:41:15Z cell owl:Class CL:0000549 biolink:NamedThing basophilic erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpte7i6ely_mondo_relaxed.owl basophilic normoblast|early erythroblast|early normoblast|prorubricyte FMA:83505 cell owl:Class MONDO:0000608 biolink:NamedThing familial juvenile hyperuricemic nephropathy tmpte7i6ely_mondo_relaxed.owl familial nephropathy associated with hyperuricemia|gouty nephropathy, familial|familial juvenile hyperuricemic nephropathy|juvenile gouty nephropathy|familial nephropathy with gout|nephropathy, familial, with gout|tubulointerstitial kidney disease|familial juvenile gouty nephropathy|juvenile gout|FJHN|gouty nephropathy, familial juvenile UMLS:CN239392|SCTID:46785007|OMIM:162000|OMIM:614227|Orphanet:217330|OMIMPS:162000|OMIM:613092|Orphanet:209886|DOID:0060062|GARD:0000067|MESH:C537696 owl:Class MONDO:0043108 biolink:NamedThing infantile striato thalamic degeneration tmpte7i6ely_mondo_relaxed.owl Orphanet:1575|GARD:0003004 owl:Class MONDO:0010638 biolink:NamedThing keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. tmpte7i6ely_mondo_relaxed.owl keratosis follicularis, dwarfism, and cerebral atrophy|dwarfism, cerebral atrophy and generalized keratosis follicularis|keratosis follicularis dwarfism and cerebral atrophy GARD:0003099|ICD10:Q87.1|UMLS:C1839910|Orphanet:2339|MESH:C536158|OMIM:308830 https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy owl:Class MONDO:0020119 biolink:NamedThing X-linked syndromic intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. tmpte7i6ely_mondo_relaxed.owl syndromic X-linked mental retardation|syndromic X-linked intellectual disability|intellectual disability, X-linked syndromic|syndromic intellectual disability, X-linked|mental retardation, X-linked syndromic|X-linked syndromic intellectual disability DOID:0060309|OMIMPS:309510|Orphanet:98464 owl:Class MONDO:0001853 biolink:NamedThing contact blepharoconjunctivitis tmpte7i6ely_mondo_relaxed.owl SCTID:10813004|ICD10:H10.53|UMLS:C0155150|DOID:13999|ICD9:372.22 owl:Class MONDO:0002307 biolink:NamedThing blepharoconjunctivitis Inflammation of both the eyelids and the conjunctiva. tmpte7i6ely_mondo_relaxed.owl DOID:2456|UMLS:C0005743|ICD9:372.20|ICD10:H10.50|ICD10:H10.5|NCIT:C34430|SCTID:68659002|ICD9:372.2 owl:Class MONDO:0021024 biolink:NamedThing malaria, susceptibility to tmpte7i6ely_mondo_relaxed.owl malaria, Severe, susceptibility to|malaria, cerebral, resistance to|malaria, Severe, resistance to|malaria, susceptibility to|malaria, cerebral, susceptibility to|malaria, resistance to OMIM:611162 owl:Class MONDO:0015979 biolink:NamedThing hereditary predisposition to infections tmpte7i6ely_mondo_relaxed.owl genetic susceptibility to infections due to particular pathogens Orphanet:183710|ICD10:D84.8 Editor note: todo logical definition owl:Class GO:0048858 biolink:NamedThing cell projection morphogenesis The process in which the anatomical structures of a cell projection are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032990 biolink:NamedThing cell part morphogenesis The process in which the anatomical structures of a cell part are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100015 biolink:NamedThing adult-onset segmental dystonia tmpte7i6ely_mondo_relaxed.owl DYT-GNAL|an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years). 2018-05-25 20:41:39+00:00 owl:Class MONDO:0015990 biolink:NamedThing focal, segmental or multifocal dystonia A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. tmpte7i6ely_mondo_relaxed.owl ICD10:G24.3|Orphanet:1866|ICD10:G24.4|ICD10:G24.8|ICD10:G24.5 owl:Class UBERON:0035651 biolink:NamedThing glans tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014757 biolink:NamedThing macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome tmpte7i6ely_mondo_relaxed.owl Takenouchi-Kosaki syndrome|macrothrombocytopenia and mental retardation syndrome|TAKENOUCHI-Kosaki syndrome|macrothrombocytopenia and intellectual disability syndrome|TKS Orphanet:487796|UMLS:C4225222|OMIM:616737 owl:Class MONDO:0019520 biolink:NamedThing syndromic lymphedema A lymphedema that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with lymphedema|syndromic lymphedema UMLS:CN227645|Orphanet:89832 owl:Class MONDO:0014275 biolink:NamedThing Fanconi renotubular syndrome 3 Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. tmpte7i6ely_mondo_relaxed.owl Fanconi renotubular syndrome type 3|FRTS3|Fanconi renotubular syndrome 3|EHHADH Fanconi syndrome|Fanconi syndrome caused by mutation in EHHADH Orphanet:3337|OMIM:615605|UMLS:C3810100 owl:Class MONDO:0100238 biolink:NamedThing inherited Fanconi renotubular syndrome An instance of Fanconi renotubular syndrome that is inherited. tmpte7i6ely_mondo_relaxed.owl hereditary Fanconi renotubular syndrome OMIMPS:134600|OMIM:134600|OMIM:615605|OMIM:613388 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:3377 biolink:NamedThing EPB41 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901534 biolink:NamedThing positive regulation of hematopoietic progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of hemopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation owl:Class MONDO:0024290 biolink:NamedThing enuresis An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years). tmpte7i6ely_mondo_relaxed.owl enuresis NCIT:C34588|UMLS:C0014394|MESH:D004775 owl:Class MONDO:0002025 biolink:NamedThing psychiatric disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. tmpte7i6ely_mondo_relaxed.owl mental illness|mental disorder|disease of mental health|Psychiatric disease|mental dysfunction|Psychiatric disorder ICD10:F99-F99|MESH:D001523|ICD10:F99|MFOMD:0000004|DOID:150|NCIT:C2893 owl:Class NCBITaxon:44281 biolink:NamedThing Pneumocystidaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:37987 biolink:NamedThing Pneumocystidales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013700 biolink:NamedThing axial musculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001015 biolink:NamedThing musculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013688 biolink:NamedThing linear and whorled nevoid hypermelanosis Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism. tmpte7i6ely_mondo_relaxed.owl nevoid hypermelanosis, linear and whorled|zosteriform lentiginous nevus|hyperpigmentation, progressive cribriform and zosteriform|linear papular ectodermal-mesodermal hamartoma|zebra-like hyperpigmentation|Becker Nevus|LWNH|zosteriform hyperpigmentation|pigmented hairy Epidermal Nevus|reticulate hyperpigmentation of Iijima|linear and whorled hypermelanosis|melanosis Neviformis|pigmented hairy Nevus of Becker|Becker's Nevus|progressive cribriform and zosteriform hyperpigmentation OMIM:614323|GARD:0011004|UMLS:C0263579|ICD10:L81.4|UMLS:C1304501|Orphanet:79150|NCIT:C3924|SCTID:403803002 https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis owl:Class GO:0051781 biolink:NamedThing positive regulation of cell division Any process that activates or increases the frequency, rate or extent of cell division. tmpte7i6ely_mondo_relaxed.owl stimulation of cell division|activation of cell division|upregulation of cell division|up-regulation of cell division|up regulation of cell division owl:Class MONDO:0004933 biolink:NamedThing hypoplastic left heart syndrome Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. tmpte7i6ely_mondo_relaxed.owl HLHS ICD10:Q23.4|OMIM:241550|OMIM:614435|SCTID:62067003|UMLS:C0152101|NCIT:C98894|DOID:9955|ICD9:746.7|Orphanet:2248|MESH:D018636|MedDRA:10021076|OMIMPS:241550|GARD:0006739 prototype_pattern owl:Class MONDO:0005453 biolink:NamedThing congenital heart disease A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. tmpte7i6ely_mondo_relaxed.owl congenital anomaly of heart|congenital heart defects|abnormalities, heart|heart-congenital defect|heart abnormalities|heart, malformation Of|heart defect|Abnormality, heart|heart malformation|heart abnormality|defect, congenital heart|defects, congenital heart|heart defect, congenital|congenital heart defect SCTID:13213009|DOID:1682|OMIM:615779|EFO:0005207|ICD9:746.84|OMIM:106700|ICD9:746.89|ICD10:Q24.9|UMLS:CN169364|ICD9:746.9|MESH:D006330|NCIT:C95834 owl:Class CHEBI:33362 biolink:NamedThing nickel group element atom tmpte7i6ely_mondo_relaxed.owl group 10 elements|nickel group elements|nickel group element owl:Class CHEBI:33561 biolink:NamedThing d-block element atom tmpte7i6ely_mondo_relaxed.owl d-block element|d-block elements owl:Class CHEBI:35352 biolink:NamedThing organonitrogen compound Any heteroorganic entity containing at least one carbon-nitrogen bond. tmpte7i6ely_mondo_relaxed.owl organonitrogen compounds|organonitrogens owl:Class CHEBI:51143 biolink:NamedThing nitrogen molecular entity tmpte7i6ely_mondo_relaxed.owl nitrogen molecular entities|nitrogen compounds|Nitrogenous compounds owl:Class MONDO:0007092 biolink:NamedThing amelogenesis imperfecta type 1B Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, type 1B|amelogenesis imperfecta, hypoplastic local, autosomal dominant|ENAM amelogenesis imperfecta|amelogenesis imperfecta, type IB|amelogenesis imperfecta caused by mutation in enam|enam amelogenesis imperfecta|enamel hypoplasia, hereditary localized|AI1B|amelogenesis imperfecta caused by mutation in ENAM|autosomal dominant hypoplastic local amelogenesis imperfecta|AIH2|hereditary localized enamel hypoplasia|amelogenesis imperfecta type IB MESH:C562879|ICD10:K00.5|UMLS:C0399368|SCTID:234961008|DOID:0110052|Orphanet:100031|ICD9:520.5|OMIM:104500 owl:Class MONDO:0019507 biolink:NamedThing amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. tmpte7i6ely_mondo_relaxed.owl OMIM:613211|OMIM:104510|OMIM:204650|OMIM:617217|OMIM:614832|OMIM:615887|OMIM:612529|MESH:D000567|ICD10:K00.5|OMIM:301201|OMIM:616270|SCTID:78494001|OMIM:104530|GARD:0005791|DOID:2187|OMIM:130900|OMIM:204700|Orphanet:88661|OMIMPS:104500|CSP:0828-0533|OMIM:301200|ICD9:520.5|OMIM:104500|OMIM:616221 https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta owl:Class MONDO:0008510 biolink:NamedThing symphalangism with multiple anomalies of hands and feet Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. tmpte7i6ely_mondo_relaxed.owl symphalangism with multiple anomalies of hands and feet|Learman syndrome ICD10:Q74.8|MESH:C566098|GARD:0005077|Orphanet:3246|UMLS:C1861391|SCTID:732955001|OMIM:185750 https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet owl:Class MONDO:0005603 biolink:NamedThing pancreatic tubular adenocarcinoma A tubular adenocarcinoma that involves the pancreas. tmpte7i6ely_mondo_relaxed.owl pancreas tubular adenocarcinoma EFO:0006471 owl:Class MONDO:0006047 biolink:NamedThing pancreatic adenocarcinoma A carcinoma that arises from glandular epithelial cells of the pancreas tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the pancreas|pancreatic adenocarcinoma|adenocarcinoma of pancreas|adenocarcinoma - pancreas|pancreas adenocarcinoma|PAAD NCIT:C8294|ONCOTREE:PAAD|EFO:1000044|SCTID:700423003|UMLS:C0281361|DOID:4074 owl:Class MONDO:0007355 biolink:NamedThing uveal coloboma-cleft lip and palate-intellectual disability Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|COB1|uveal coloboma-cleft lip/palate-intellectual disability syndrome|coloboma-microphthalmos syndrome|coloboma, cleft lip/palate and mental retardation syndrome|uveal coloboma-cleft lip and palate-intellectual disability|coloboma, cleft lip/palate and intellectual disability syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|uveal coloboma-cleft lip/palate-mental retardation syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Orphanet:1473|OMIM:120433|GARD:0001440|ICD10:Q12.2|UMLS:C0795902|DOID:0111249|MESH:C535971 owl:Class MONDO:0015335 biolink:NamedThing orofacial clefting syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN199365|Orphanet:139039 owl:Class MONDO:0049221 biolink:NamedThing myopia 26, X-linked, female-limited tmpte7i6ely_mondo_relaxed.owl myopia 26, X-linked, female-limited|MYP26 UMLS:C4538795|OMIM:301010 owl:Class MONDO:0016639 biolink:NamedThing lower limb deficiency-hypospadias syndrome Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. tmpte7i6ely_mondo_relaxed.owl lower limb malformation-hypospadias syndrome|Fried-Goldberg-Mundel syndrome Orphanet:2487|UMLS:C2930962|MESH:C535640 owl:Class MONDO:0015620 biolink:NamedThing syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation Orphanet:165707|UMLS:CN226715 owl:Class MONDO:0023646 biolink:NamedThing lipodermatosclerosis Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. tmpte7i6ely_mondo_relaxed.owl sclerosing panniculitis|hypodermitis sclerodermaformis|acute lipodermatosclerosis UMLS:C0406500|MESH:C537026|GARD:0009671|SCTID:410016009 https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis owl:Class GO:0034637 biolink:NamedThing cellular carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044262 biolink:NamedThing cellular carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular carbohydrate metabolism|main pathways of carbohydrate metabolism|main pathways of carbohydrate metabolic process owl:Class MONDO:0004636 biolink:NamedThing lip carcinoma in situ A in situ carcinoma that involves the lip. tmpte7i6ely_mondo_relaxed.owl stage 0 lip carcinoma|stage 0 Lip cancer aJCC v6|stage 0 carcinoma of Lip|stage 0 Lip cancer aJCC v6 and v7|carcinoma in situ of the Lip|stage 0 cancer of Lip|stage 0 carcinoma of the Lip|lip in situ carcinoma|stage 0 cancer of the Lip|carcinoma in situ of lip|stage 0 Lip cancer|stage 0 Lip cancer aJCC v7 DOID:8661|ICD9:230.0|UMLS:C4316815|NCIT:C4588|ICD10:D00.0|SCTID:92643000|UMLS:C0347082 owl:Class MONDO:0021237 biolink:NamedThing adrenal medulla neoplasm A neoplasm (disease) that involves the adrenal medulla. tmpte7i6ely_mondo_relaxed.owl adrenal medulla tumor|tumor of adrenal medulla|neoplasm of adrenal medulla|adrenal medulla neoplasm (disease) NCIT:C4856|UMLS:C0596046 owl:Class GO:0000313 biolink:NamedThing organellar ribosome A ribosome contained within a subcellular membrane-bounded organelle. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005840 biolink:NamedThing ribosome An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. tmpte7i6ely_mondo_relaxed.owl free ribosome|ribosomal RNA|membrane bound ribosome owl:Class UBERON:0009129 biolink:NamedThing right atrium endocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002165 biolink:NamedThing endocardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004749 biolink:NamedThing myocardium cancer A malignant neoplasm involving the myocardium. tmpte7i6ely_mondo_relaxed.owl myocardium cancer|malignant tumor of myocardium|malignant myocardium neoplasm|malignant neoplasm of the myocardium|malignant neoplasm of myocardium|malignant myocardial tumor|tumor of myocardium|cancer of myocardium|malignant tumor of the myocardium|malignant myocardial neoplasm DOID:9299|NCIT:C4569|UMLS:C1290402|UMLS:C0346611|SCTID:126732009|NCIT:C5349 owl:Class MONDO:0021380 biolink:NamedThing neoplasm of myocardium A neoplasm (disease) that involves the myocardium. tmpte7i6ely_mondo_relaxed.owl myocardial tumor|tumor of myocardium|myocardial neoplasm|myocardium tumor|neoplasm of myocardium|neoplasm of the myocardium|tumor of the myocardium|myocardium neoplasm|myocardium neoplasm (disease) UMLS:C1290402|ICD9:239.89|SCTID:126732009|NCIT:C5349 owl:Class MONDO:0006405 biolink:NamedThing salivary gland small cell carcinoma An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. tmpte7i6ely_mondo_relaxed.owl neuroendocrine carcinoma of the salivary gland|salivary gland neuroendocrine carcinoma|saliva-secreting gland small cell carcinoma|salivary gland small cell carcinoma|salivary gland anaplastic small cell carcinoma|small cell carcinoma of saliva-secreting gland|neuroendocrine carcinoma of salivary gland|small cell salivary gland carcinoma|anaplastic small cell carcinoma of the salivary gland|anaplastic small cell carcinoma of salivary gland UMLS:C1335982|EFO:1000519|NCIT:C35703 owl:Class MONDO:0000402 biolink:NamedThing small cell carcinoma A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. tmpte7i6ely_mondo_relaxed.owl oat cell cancer|small cell NEC|small cell carcinoma, intermediate cell|small cell carcinoma - intermediate cell|small cell carcinoma (extrapulmonary)|small cell neuroendocrine carcinoma|small cell car. (extrapulmonary)|oat cell carcinoma|intermediate cell small cell carcinoma|small cell cancer|small cell carcinoma|small cell carcinoma, intermediate cell (morphologic abnormality) ICDO:8041/3|MESH:D018288|SCTID:11010461000119101|UMLS:C0262584|ICDO:8042/3|EFO:0008524|DOID:0050685|NCIT:C3915|UMLS:C0334239 owl:Class MONDO:0016152 biolink:NamedThing qualitative or quantitative defects of calpain tmpte7i6ely_mondo_relaxed.owl Orphanet:207104 Editor note: TODO request for IPR001300 owl:Class GO:0050863 biolink:NamedThing regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell activation. tmpte7i6ely_mondo_relaxed.owl regulation of T lymphocyte activation|regulation of T-cell activation|regulation of T-lymphocyte activation owl:Class GO:0051249 biolink:NamedThing regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20665 biolink:NamedThing SCN3B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003649 biolink:NamedThing esophageal neuroendocrine tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. tmpte7i6ely_mondo_relaxed.owl esophageal NEN|NEN of esophagus|esophageal well differentiated endocrine tumor/carcinoma|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|esophageal neuroendocrine neoplasm|neuroendocrine tumor of esophagus|esophageal well differentiated endocrine tumor|esophagus NET|neuroendocrine neoplasm of esophagus|esophageal neuroendocrine tumor|esophagus neuroendocrine neoplasm|esophageal NET|esophagus neuroendocrine tumor Orphanet:506136|UMLS:C1333462|UMLS:C2987260|DOID:5784|NCIT:C95616 owl:Class MONDO:0019496 biolink:NamedThing neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). tmpte7i6ely_mondo_relaxed.owl APUDoma|neuroendocrine tumor|neuroendocrine neoplasm MESH:D018358|ICD9:239.7|EFO:1001901|UMLS:C0206754|UMLS:C0003650|DOID:169|ICD9:209-209.99|ICD10:D3A.8|ICD9:209|UMLS:CN206284|SCTID:255046005|NCIT:C3809|Orphanet:877 Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass owl:Class MONDO:0019751 biolink:NamedThing autoinflammatory syndrome A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. tmpte7i6ely_mondo_relaxed.owl UMLS:C3267073|Orphanet:93665|NCIT:C119050|UMLS:C3890737|MedDRA:10072220 Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom owl:Class MONDO:0008317 biolink:NamedThing proteolytic capacity of plasma tmpte7i6ely_mondo_relaxed.owl proteolytic capacity of plasma OMIM:176900 owl:Class UBERON:0003959 biolink:NamedThing rete testis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004120 biolink:NamedThing mesoderm-derived structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011302 biolink:NamedThing type 1 diabetes mellitus 17 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25. tmpte7i6ely_mondo_relaxed.owl IDDM17|diabetes mellitus, insulin-dependent, 17|insulin-dependent diabetes mellitus 17 DOID:0110754|ICD10:E10|UMLS:C1864068|OMIM:603266|MESH:C566395 owl:Class MONDO:0005147 biolink:NamedThing type 1 diabetes mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas. tmpte7i6ely_mondo_relaxed.owl type 1 diabetes|insulin-dependent diabetes mellitus|juvenile diabetes|IDDM|insulin dependent diabetes|immune mediated diabetes|type I diabetes mellitus|diabetes mellitis type 1|diabetes mellitis type I|type I diabetes OMIM:125852|OMIM:612520|OMIM:222100|SCTID:46635009|Orphanet:243377|KEGG:04940|OMIM:601388|ICD10:E10|OMIM:601942|EFO:0001359|DOID:9744|OMIM:612522|NCIT:C2986|MESH:D003922|OMIM:610155 owl:Class MONDO:0011045 biolink:NamedThing MMEP syndrome A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. tmpte7i6ely_mondo_relaxed.owl microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|microphthalmia syndromic 8|Viljoen Smart syndrome|microphthalmia, syndromic 8|Viljoen-Smart syndrome|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|MMEP|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|syndromic microphthalmia type 8|MCOPS8 Orphanet:3434|UMLS:C4275099|ICD10:Q87.8|UMLS:C1832440|OMIM:601349|MESH:C537686|SCTID:715533002|GARD:0003693 owl:Class MONDO:0030337 biolink:NamedThing cutis laxa, autosomal recessive, type 2E tmpte7i6ely_mondo_relaxed.owl cutis laxa, autosomal recessive, type 2E|ARCL2E OMIM:619451 owl:Class MONDO:0100320 biolink:NamedThing post-COVID-19 disorder A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0009889 biolink:NamedThing secondary heart field tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014413 biolink:NamedThing orofaciodigital syndrome type 14 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome XIV|C2CD3 orofaciodigital syndrome|orofaciodigital syndrome 14|OFD14|orofaciodigital syndrome caused by mutation in C2CD3|oral-facial-digital syndrome type 14|orofaciodigital syndrome type 14|microcephaly-cerebral malformation-orofaciodigital syndrome OMIM:615948|UMLS:C4014780|SCTID:763837007|Orphanet:434179|ICD10:Q87.0 owl:Class MONDO:0015375 biolink:NamedThing orofaciodigital syndrome Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome|oral facial digital syndromes|OFD|orofaciodigital syndromes|oral-facial-digital syndromes|oral-facial-digital syndrome ICD10:Q87.0|GARD:0010692|OMIMPS:311200|Orphanet:140997|SCTID:52868006|DOID:4501|ICD9:759.89|MESH:D009958 owl:Class MONDO:0008685 biolink:NamedThing Wolff-Parkinson-white syndrome A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. tmpte7i6ely_mondo_relaxed.owl Wolff-Parkinson-White syndrome|WPW|Wpw syndrome|Wolff-Parkinson-White pattern|accessory atrioventricular pathways|preexcitation syndrome|anomalous atrioventricular excitation|ventricular familial preexcitation syndrome|Wolff-Parkinson-white syndrome (disease)|Wolff-Parkinson-White pattern (finding)|anomalous A-V excitation Wolff-Parkinson-white syndrome (disease) SCTID:17869006|ICD10:I45.6|Orphanet:907|DOID:384|NCIT:C35132|ICD9:426.7|EFO:1001450|OMIM:194200|HP:0001716 owl:Class MONDO:0000992 biolink:NamedThing heart conduction disease A disease that has its basis in the disruption of the heart's electrical conduction system. tmpte7i6ely_mondo_relaxed.owl disease of cardiac conduction|conduction disease of heart|cardiac conduction disease|heart rhythm disease|disorder of cardiac conduction|cardiac conduction disorder ICD9:426.6|DOID:10273|SCTID:44808001 owl:Class MONDO:0007047 biolink:NamedThing punctate palmoplantar keratoderma type III Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later tmpte7i6ely_mondo_relaxed.owl NTIA|ake|acrokeratoelastoidosis|TIA|collagenous plaques of hands and feet|collagenous plaques of hand and feet|rare form of Hirschsprung's disease|near-total intestinal aganglionosis|punctate palmoplantar hyperkeratosis type 3|aganglionosis, total colonic|acrokeratoelastoidosis of Costa|PPKP3|palmoplantar keratoderma, punctate type III|palmoplantar keratoderma, punctate type 3|punctate palmoplantar keratoderma type 3 MESH:C535653|UMLS:C0545044|Orphanet:38|GARD:0000125|GARD:0000133|OMIM:101850|ICD10:Q82.8|EFO:1000758|DOID:0060362 Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 owl:Class MONDO:0019271 biolink:NamedThing acrokeratoderma tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.8|Orphanet:79356 owl:Class UBERON:0003860 biolink:NamedThing hindlimb mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003104 biolink:NamedThing mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0011111 biolink:NamedThing gonadotropin releasing neuron Neuroendocrine cells that are born in the nasal placode during embryonic development and migrate through the nose and forebrain to the hypothalamus, where they regulate reproduction. tmpte7i6ely_mondo_relaxed.owl GnRH-secreting neuron|GnRH neuron owl:Class CL:0000540 biolink:NamedThing neuron The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpte7i6ely_mondo_relaxed.owl nerve cell FMA:54527|WBbt:0003679|VHOG:0001483|BTO:0000938|CALOHA:TS-0683|FBbt:00005106 These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. cell owl:Class MONDO:0014172 biolink:NamedThing spermatogenic failure 12 Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure type 12|SPGF12|spermatogenic failure 12|NANOS1 azoospermia|azoospermia caused by mutation in NANOS1 Orphanet:399808|UMLS:C3809427|OMIM:615413|DOID:0070171|Orphanet:399805 owl:Class GO:2000766 biolink:NamedThing negative regulation of cytoplasmic translation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0017148 biolink:NamedThing negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpte7i6ely_mondo_relaxed.owl negative regulation of protein formation|protein biosynthetic process inhibitor activity|negative regulation of protein anabolism|down-regulation of protein biosynthetic process|inhibition of protein biosynthetic process|negative regulation of protein biosynthesis|protein biosynthesis inhibitor activity|negative regulation of protein biosynthetic process|down regulation of protein biosynthetic process|negative regulation of protein synthesis|downregulation of protein biosynthetic process owl:Class MONDO:0016957 biolink:NamedThing partial duplication of the long arm of chromosome 6 Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl 6q trisomy|partial trisomy of the long arm of chromosome 6|trisomy 6q|6q duplication|partial duplication of chromosome 6q|partial trisomy 6q|partial duplication of the long arm of chromosome type 6|partial trisomy of chromosome 6q|chromosome 6q duplication|Duplication 6q GARD:0005353|Orphanet:262878|MESH:C537812 owl:Class GO:0010564 biolink:NamedThing regulation of cell cycle process Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29634 biolink:NamedThing MEGF10 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002458 biolink:NamedThing spinal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007530 biolink:NamedThing migrating mesenchyme population tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000272 biolink:NamedThing polysaccharide catabolic process The chemical reactions and pathways resulting in the breakdown of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpte7i6ely_mondo_relaxed.owl polysaccharide catabolism|multicellular organismal polysaccharide catabolic process|polysaccharide degradation|polysaccharide breakdown owl:Class GO:0009057 biolink:NamedThing macromolecule catabolic process The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl biopolymer catabolic process|macromolecule catabolism|macromolecule breakdown|macromolecule degradation|multicellular organismal macromolecule catabolic process owl:Class MONDO:0018106 biolink:NamedThing hereditary xanthinuria Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. tmpte7i6ely_mondo_relaxed.owl xanthinuria|hereditary xanthinuria|xanthine dehydrogenase deficiency|xanthic urolithiasis|xanthine stone disease|classic xanthinuria OMIMPS:278300|SCTID:54627004|UMLS:C1863688|SCTID:72682008|Orphanet:3467|MESH:C566358|ICD9:277.2|ICD10:E79.8|OMIM:278300|MESH:C562584|HP:0010934|OMIM:603592|DOID:0060236 owl:Class MONDO:0019743 biolink:NamedThing nephropathy secondary to a storage or other metabolic disease tmpte7i6ely_mondo_relaxed.owl Orphanet:93593|UMLS:CN206659 owl:Class CL:0000981 biolink:NamedThing double negative memory B cell A memory B cell with the phenotype IgD-negative and CD27-negative. tmpte7i6ely_mondo_relaxed.owl double negative memory B lymphocyte|dn memory B cell|double negative memory B-cell|dn memory B-cell|dn memory B-lymphocyte|double negative memory B-lymphocyte|dn memory B lymphocyte cell owl:Class CL:0001053 biolink:NamedThing IgD-negative memory B cell A memory B cell that lacks expression of surface IgD. tmpte7i6ely_mondo_relaxed.owl IgD- memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD- memory B cell'. The majority of these cells are class-switched, though some are IgM-positive. cell owl:Class MONDO:0002209 biolink:NamedThing heel spur A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related. tmpte7i6ely_mondo_relaxed.owl calcaneal spur|calcaneus exostosis MESH:D036982|ICD10:M77.30|ICD10:M77.3|SCTID:55260003|UMLS:C0158322|ICD9:726.73|DOID:210 owl:Class MONDO:0002181 biolink:NamedThing exostosis Non-neoplastic overgrowth of bone. tmpte7i6ely_mondo_relaxed.owl swimmer's exostosis|bone osteophyte|orbital exostosis|exostosis|bone spur|bony outgrowth|osteophyte ICD9:726.91|SCTID:235231000119100|UMLS:C1442903|UMLS:C1956089|NCIT:C3029|ICD10:M27.8|DOID:203|SCTID:416189003 Editor note: compare with osteophyte owl:Class CL:2000067 biolink:NamedThing cardiac atrium fibroblast Any fibroblast that is part of a cardiac atrium. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6320 TermGenie 2014-10-07T18:36:54Z cell owl:Class CL:0000057 biolink:NamedThing fibroblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. tmpte7i6ely_mondo_relaxed.owl FMA:63877|BTO:0000452|VHOG:0001482|CALOHA:TS-0362 These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. cell owl:Class CHEBI:6495 biolink:NamedThing lipoprotein A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids. tmpte7i6ely_mondo_relaxed.owl Lipoprotein|lipoproteins|lipoprotein particle owl:Class CHEBI:39024 biolink:NamedThing clathrate compound Inclusion compound in which the guest molecule is in a cage formed by the host molecule or by a lattice of host molecules. tmpte7i6ely_mondo_relaxed.owl compuesto de clatrato|Klathratverbindung|clatrato|Klathrat|clatratos|Clathrat|clathrate compounds|Clathratverbindung|clathrates|cage compound|clathrate owl:Class CHEBI:33309 biolink:NamedThing noble gas atom tmpte7i6ely_mondo_relaxed.owl group 18 elements|gases nobles|gaz noble|Edelgase|gaz nobles|inert gases|noble gases|group VIII elements|noble gas|gas noble|Edelgas|rare gases owl:Class CHEBI:138675 biolink:NamedThing gas molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). tmpte7i6ely_mondo_relaxed.owl gaseous molecular entity|gaseous molecular entities|gas molecular entities owl:Class MONDO:0001133 biolink:NamedThing malignant essential hypertension Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure. tmpte7i6ely_mondo_relaxed.owl accelerated essential hypertension|malignant essential hypertension NCIT:C34802|ICD9:401.0|UMLS:C0024588|SCTID:78975002|DOID:10823 owl:Class MONDO:0006846 biolink:NamedThing malignant hypertension Severe hypertension that is characterized by rapid onset of extremely high blood pressure. tmpte7i6ely_mondo_relaxed.owl malignant phase hypertension|accelerated-malignant hypertension|MHT|hypertensive emergency DOID:10824|EFO:1001031|NCIT:C3118|SCTID:70272006|MedDRA:10025600|UMLS:C0745136|MESH:D006974|UMLS:C0020540 owl:Class HGNC:4879 biolink:NamedThing HEXB tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011733 biolink:NamedThing Abnormality of adrenal physiology A functional abnormality of the adrenal glands. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023212 peter 2012-04-21T08:05:42Z HP:0002855 human_phenotype owl:Class HP:0000834 biolink:NamedThing Abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. tmpte7i6ely_mondo_relaxed.owl Adrenal abnormalities|Adrenal gland disease SNOMEDCT_US:30171000|UMLS:C0001621|UMLS:C4021794|MSH:D000307 human_phenotype owl:Class MONDO:0019072 biolink:NamedThing intrahepatic cholestasis Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. tmpte7i6ely_mondo_relaxed.owl Gravidic intrahepatic cholestasis|pregnancy-related cholestasis|familial recurrent intrahepatic cholestasis of pregnancy|familial intrahepatic cholestasis of pregnancy|gravidic intrahepatic cholestasis|pregnancy related cholestasis|intrahepatic cholestasis of pregnancy|cholestasis, intrahepatic of pregnancy|ICP|RICP|recurrent intrahepatic cholestasis of pregnancy EFO:0009048|GARD:9804|NCIT:C84400|ICD10:O26.6|OMIM:601847|UMLS:C0008372|OMIM:602347|MESH:D002780|OMIM:615878|DOID:1852|DOID:0070227|GARD:0009804|MESH:C535932|OMIM:605479|OMIM:243300|SCTID:235888006|Orphanet:65682|OMIM:614972|Orphanet:172|Orphanet:69665|OMIM:147480|OMIM:211600 owl:Class MONDO:0001751 biolink:NamedThing cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. tmpte7i6ely_mondo_relaxed.owl obstruction of bile duct|bile occlusion ICD9:576.2|MESH:D002779|SCTID:30144000|ICD10:K83.1|NCIT:C83006|UMLS:C0008370|DOID:13580 owl:Class GO:0051458 biolink:NamedThing corticotropin secretion The regulated release of corticotropin by a cell. Corticotropin hormone is a polypeptide hormone synthesized and secreted from corticotropes in the anterior lobe of the pituitary gland in response to corticotropin-releasing hormone (CRH) released by the hypothalamus. tmpte7i6ely_mondo_relaxed.owl corticotropic hormone secretion|adrenocorticotropic hormone secretion|ACTH secretion|adrenocorticotropin secretion|adrenotropin secretion|adrenotropic hormone secretion owl:Class GO:0030072 biolink:NamedThing peptide hormone secretion The regulated release of a peptide hormone from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019264 biolink:NamedThing gray matter of forebrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003528 biolink:NamedThing brain gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014687 biolink:NamedThing retinitis pigmentosa 73 Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in HGSNAT|HGSNAT retinitis pigmentosa|RP73|retinitis pigmentosa type 73|retinitis pigmentosa 73 ICD10:H35.5|DOID:0110389|UMLS:C4225287|OMIM:616544 owl:Class GO:1901148 biolink:NamedThing gene expression involved in extracellular matrix organization Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. tmpte7i6ely_mondo_relaxed.owl extracellular matrix protein production|expression of extracellular matrix proteins owl:Class GO:0010467 biolink:NamedThing gene expression The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001170 biolink:NamedThing hemiplegia Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. tmpte7i6ely_mondo_relaxed.owl infantile hemiplegia|postnatal infantile hemiplegia GARD:0006583|MESH:D006429|SCTID:1593000|ICD9:343.4|DOID:10969 https://rarediseases.info.nih.gov/diseases/6583/hemiplegia owl:Class MONDO:0006496 biolink:NamedThing palsy A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) tmpte7i6ely_mondo_relaxed.owl Plegia|Plegias MESH:D010243|Wikipedia:Palsy|EFO:1000631 owl:Class CL:0000163 biolink:NamedThing endocrine cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. tmpte7i6ely_mondo_relaxed.owl endocrinocyte FMA:83809 cell owl:Class OBO:CHR_9606-chr16p biolink:NamedThing 16p (Human) tmpte7i6ely_mondo_relaxed.owl 36800000 0 hg38 owl:Class OBO:CHR_9606-chr17 biolink:NamedThing chromosome 17 (Human) tmpte7i6ely_mondo_relaxed.owl 17 83257441 0 hg38 owl:Class GO:0000228 biolink:NamedThing nuclear chromosome A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpte7i6ely_mondo_relaxed.owl nuclear interphase chromosome owl:Class UBERON:0004491 biolink:NamedThing cardiac muscle tissue of interatrial septum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001133 biolink:NamedThing cardiac muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010648 biolink:NamedThing negative regulation of cell communication Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010646 biolink:NamedThing regulation of cell communication Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020558 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy. tmpte7i6ely_mondo_relaxed.owl CMT2K|Charcot-Marie-Tooth disease type 2K UMLS:C1842984|UMLS:C1842983|ICD10:G60.0|OMIM:607831|Orphanet:99944|GARD:0009199|SCTID:719512003|NCIT:C133886|UMLS:CN207468 owl:Class MONDO:0012978 biolink:NamedThing primary ciliary dyskinesia 11 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene. tmpte7i6ely_mondo_relaxed.owl CILD11|ciliary dyskinesia, primary, 11, without situs inversus|primary ciliary dyskinesia 11|primary ciliary dyskinesia 11 without situs inversus|ciliary dyskinesia, primary, type 11|ciliary dyskinesia, primary, 11|primary ciliary dyskinesia caused by mutation in RSPH4A|RSPH4A primary ciliary dyskinesia|primary ciliary dyskinesia type 11 DOID:0110602|OMIM:612649|ICD10:Q34.8|UMLS:C2675229|MESH:C567212 owl:Class MONDO:0016575 biolink:NamedThing primary ciliary dyskinesia A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). tmpte7i6ely_mondo_relaxed.owl Dextrocardia bronchiectasis and sinusitis|Siewert syndrome|Immotile cilia syndrome, Kartagener type|ICS|Primary ciliary dyskinesia, Kartagener type|Dextrocardia-bronchiectasis-sinusitis syndrome|Kartagener's syndrome|PCD|immotile ciliary syndrome|ciliary motility disorder|Kartagener syndrome|Primary ciliary dyskinesia and situs inversus|ciliary dyskinesia primary|bronchiectasis, chronic sinusitis and dextrocardia syndrome OMIM:612518|OMIM:612650|OMIM:614017|GARD:0004484|OMIM:608647|OMIM:610852|OMIM:608646|OMIM:215518|OMIM:612444|OMIM:606763|OMIM:615451|OMIM:612649|ICD10:Q34.8|OMIM:613808|OMIM:215520|SCTID:42402006|OMIMPS:244400|OMIM:612274|OMIM:616037|OMIM:616726|OMIM:244400|OMIM:615482|OMIM:615294|DOID:9562|OMIM:614935|MESH:D007619|OMIM:608644|NCIT:C84638|OMIM:613807|OMIM:615444|OMIM:615505|OMIM:617092|OMIM:615872|OMIM:615500|OMIM:615504|SCTID:86204009|OMIM:617091|UMLS:C0008780|OMIM:616481|Orphanet:244|OMIM:242680|OMIM:615067|OMIM:614874|GARD:0006815|OMIM:614679|OMIM:613193|DOID:0050144|OMIM:615481|OMIM:611884|MedDRA:10069713|NCIT:C84797|MESH:D002925|OMIM:242670 Editor note: we deliberately merge two MESHes here owl:Class MONDO:0010736 biolink:NamedThing split hand-foot malformation 2 A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26. tmpte7i6ely_mondo_relaxed.owl split hand foot deformity 2|split-hand/split-foot anomaly, X-linked|split hand/foot malformation X-linked|SHFD2|SHSF2|SHFM2|split hand foot anomaly - X-linked|split hand-foot malformation type 2|split-hand/foot deformity 2|split-hand/foot malformation 2 GARD:0004968|DOID:0090027|Orphanet:2440|UMLS:C0265554|OMIM:313350|MESH:C564056|ICD10:Q71.6 owl:Class MONDO:0016576 biolink:NamedThing split hand-foot malformation Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported. tmpte7i6ely_mondo_relaxed.owl SHFM|FEWER digits|split-hand/foot malformation|split-hand deformity|isolated split hand-split foot malformation|lobster-claw deformity|split hand-split foot malformation|split hand foot malformation|ectrodactyly ICD10:Q71.6|GARD:0006319|OMIM:605289|SCTID:81208006|OMIM:606708|ICD10:Q72.7|Orphanet:2440|OMIM:183600|OMIM:225300|OMIMPS:183600|NCIT:C75000|UMLS:C0265554|OMIM:313350|OMIM:246560|DOID:0090020 owl:Class MONDO:0025598 biolink:NamedThing pneumonia caused by chlamydia An pneumonia caused by infection with Chlamydia. tmpte7i6ely_mondo_relaxed.owl Chlamydia pneumonia|chlamydial pneumonia|Chlamydia caused pneumonia|chlamydia pneumonia ICD10:J16.0|UMLS:C0339959|DOID:0040083|ICD9:483.1|MESH:D061387|SCTID:233609002 owl:Class MONDO:0005249 biolink:NamedThing pneumonia An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. tmpte7i6ely_mondo_relaxed.owl acute pneumonia NCIT:C3333|ICD10:J15|EFO:0003106|MESH:D011014|UMLS:C0032285|ICD10:J18.9|ICD9:486|ICD9:484.8|SCTID:233604007|ICD9:483|DOID:552|ICD9:483.8 https://github.com/monarch-initiative/mondo/issues/3790 owl:Class MONDO:0009948 biolink:NamedThing pyropoikilocytosis, hereditary An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. tmpte7i6ely_mondo_relaxed.owl HPP|pyropoikilocytosis, hereditary|pyropoikilocytosis hereditary|hereditary pyropoikilocytosis OMIM:266140|NCIT:C98943|MESH:C563004|SCTID:9434008|Orphanet:98867|GARD:0004619|ICD9:790.09 https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary owl:Class HGNC:3146 biolink:NamedThing ECE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014344 biolink:NamedThing congenital heart defects, multiple types, 4 Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene. tmpte7i6ely_mondo_relaxed.owl congenital heart defects, multiple types, 4|CHTD4|NR2F2 congenital heart defects, multiple types|congenital heart defects, multiple types caused by mutation in NR2F2 UMLS:C4014310|OMIM:615779|Orphanet:98722 owl:Class MONDO:0020290 biolink:NamedThing atrioventricular septal defect A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. tmpte7i6ely_mondo_relaxed.owl endocardial cushion defect|AV septal defect|AVSD|common atrioventricular canal|AVCD|atrioventricular septal defect|atrioventricular canal defect|ECD|common AV canal OMIM:614430|OMIMPS:606215|SCTID:15459006|OMIM:614474|OMIM:606217|ICD9:745.60|DOID:0050651|OMIM:600309|NCIT:C101029|ICD10:Q21.2|ICD9:745.69|GARD:0000802|OMIM:606215|ICD9:745.6|OMIM:615779|Orphanet:98722 owl:Class GO:0050920 biolink:NamedThing regulation of chemotaxis Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0040012 biolink:NamedThing regulation of locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001981 biolink:NamedThing blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048018 biolink:NamedThing receptor ligand activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). tmpte7i6ely_mondo_relaxed.owl vitamin D receptor activator activity|signaling molecule|signaling receptor ligand activity|receptor agonist activity owl:Class GO:0030546 biolink:NamedThing signaling receptor activator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. tmpte7i6ely_mondo_relaxed.owl signalling receptor activator activity|receptor activator activity owl:Class MONDO:0002491 biolink:NamedThing substance abuse The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed. tmpte7i6ely_mondo_relaxed.owl ICD9:305.90|NCIT:C16522|DOID:302|SCTID:66214007|MESH:D019966 owl:Class MONDO:0002494 biolink:NamedThing substance-related disorder A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). tmpte7i6ely_mondo_relaxed.owl substance-related disorder DOID:303|MESH:D019966|NCIT:C92203 owl:Class MONDO:0014071 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11|muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|MDDGA11|Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related Orphanet:899|UMLS:C3554638|Orphanet:588|OMIM:615181|DOID:0111230 owl:Class NCBITaxon:6072 biolink:NamedThing Eumetazoa tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33154 biolink:NamedThing Opisthokonta tmpte7i6ely_mondo_relaxed.owl Fungi/Metazoa group|opisthokonts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043320 biolink:NamedThing piriformis syndrome A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica. tmpte7i6ely_mondo_relaxed.owl piriformis syndrome|Pseudosciatica|muscle syndrome, piriformis|pyriformis syndrome|syndromes, piriformis|hip socket neuropathy|syndrome, piriformis muscle|muscle syndromes, piriformis|deep gluteal syndrome|piriformis muscle syndromes|wallet sciatica|syndromes, piriformis muscle|piriformis syndromes|syndrome, piriformis|pelvic outlet syndrome|piriformis muscle syndrome UMLS:C0458224|NCIT:C85012|MESH:D055958|SCTID:129179000|GARD:0010026 owl:Class MONDO:0024333 biolink:NamedThing sciatica A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina. tmpte7i6ely_mondo_relaxed.owl bilateral sciaticas|neuralgia, sciatic|sciatic neuralgia|neuralgias, sciatic|bilateral sciatica|sciatica, bilateral|sciatic Neuralgias SCTID:23056005|ICD9:724.3|MESH:D012585 owl:Class GO:0036160 biolink:NamedThing melanocyte-stimulating hormone secretion The regulated release of a melanocyte-stimulating hormone, any of a group of peptide hormones that are produced by cells in the intermediate lobe of the pituitary gland, and stimulate the production of melanin to increase pigmentation. tmpte7i6ely_mondo_relaxed.owl MSH secretion owl:Class MONDO:0011246 biolink:NamedThing megaconial type congenital muscular dystrophy tmpte7i6ely_mondo_relaxed.owl MDCMC|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|megaconial congenital muscular dystrophy|muscular dystrophy, congenital, megaconial type|muscular dystrophy, congenital, with mitochondrial structural abnormalities|megaconial congénital muscular dystrophy|megaconial type congenital muscular dystrophy|congenital megaconial myopathy|congenital muscular dystrophy with mitochondrial structural abnormalities OMIM:602541|DOID:0110632|MESH:C566527|GARD:0010317|UMLS:C1865233|ICD10:G71.2|Orphanet:280671 https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type owl:Class MONDO:0019950 biolink:NamedThing congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. tmpte7i6ely_mondo_relaxed.owl CMD|MDC|congenital MD EFO:0006819|SCTID:240059009|DOID:0050557|UMLS:C0699743|ICD9:359.0|GARD:0009138|OMIM:254100|ICD10:G71.2|Orphanet:97242|UMLS:C0026850 owl:Class MONDO:0016649 biolink:NamedThing Warburg micro syndrome Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. tmpte7i6ely_mondo_relaxed.owl Warburg-Sjo-Fledelius syndrome|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|micro syndrome|Warburg micro syndrome|WARBM|microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism DOID:0060237|OMIMPS:600118|OMIM:614225|UMLS:CN158709|OMIM:615663|ICD10:Q87.0|OMIM:614222|OMIM:600118|GARD:0005534|Orphanet:2510 owl:Class MONDO:0018838 biolink:NamedThing lissencephaly spectrum disorders The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. tmpte7i6ely_mondo_relaxed.owl large gyri of cerebrum|Broad gyri of cerebrum|lissencephaly (disease)|macrogyria|lissencephaly|pachygyria|lissencephaly spectrum disorders OMIM:300215|Orphanet:102009|Orphanet:48471|DOID:0050453|NCIT:C103921|MESH:D054082|OMIM:300067|MedDRA:10048911|HP:0001339|OMIM:614019|SCTID:204036008|OMIM:615191|ICD10:Q04.8|OMIMPS:607432|UMLS:C0266463|ICD10:Q04.3|OMIM:611603|GARD:0012291|OMIM:607432|GARD:0007300 Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. https://github.com/monarch-initiative/mondo/issues/1312 owl:Class MONDO:0002747 biolink:NamedThing endometrial mucinous adenocarcinoma A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. tmpte7i6ely_mondo_relaxed.owl endometrial mucinous adenocarcinoma|uterine mucinous carcinoma|endometrium mucinous adenocarcinoma|uterine corpus mucinous adenocarcinoma UMLS:C1519859|EFO:1000236|NCIT:C40144|DOID:3707|ONCOTREE:UMC owl:Class MONDO:0004957 biolink:NamedThing mucinous adenocarcinoma An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. tmpte7i6ely_mondo_relaxed.owl mucin-secreting carcinoma|mucinous carcinoma|mucoid adenocarcinoma|mucoid carcinoma|mucinous adenocarcinoma|gelatinous adenocarcinoma|colloid adenocarcinoma|mucin-secreting adenocarcinoma|gelatinous carcinoma|colloid carcinoma|mucous carcinoma|mucinuos carcinoma|pseudomyxoma peritonei with unknown primary site|mucin-producing adenocarcinoma (morphologic abnormality)|mucin-producing adenocarcinoma|CEMU|adenocarcinoma, mucinous, malignant|mucous adenocarcinoma DOID:3030|MESH:D002288|ICDO:8480/3|UMLS:C0007130|UMLS:C0334368|ONCOTREE:CEMU|NCIT:C26712|EFO:0000197 owl:Class MONDO:0017340 biolink:NamedThing juvenile nasopharyngeal angiofibroma Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. tmpte7i6ely_mondo_relaxed.owl juvenile nasopharyngeal angiofibroma (disease)|nasopharyngeal angiofibroma|JNA|juvenile nasopharyngeal angiofibroma|nasopharyngeal juvenile angiofibroma juvenile nasopharyngeal angiofibroma (disease) SCTID:716590006|UMLS:C1367536|Orphanet:289596|UMLS:CN202999|ICD10:D10.6|NCIT:C27479|HP:0030429 owl:Class ECTO:9000019 biolink:NamedThing exposure to acetic acid An exposure to acetic acid. tmpte7i6ely_mondo_relaxed.owl exposure to acetic acid owl:Class MONDO:0002233 biolink:NamedThing enamel caries A dental caries that involves the enamel. tmpte7i6ely_mondo_relaxed.owl enamel dental caries|simple dental cavity|dental caries limited to enamel|primary dental caries|dental caries of enamel DOID:217|SCTID:80353004|UMLS:C0266853|ICD9:521.01 owl:Class MONDO:0005276 biolink:NamedThing dental caries The decay of a tooth, in which it becomes softened, discolored, and/or porous. tmpte7i6ely_mondo_relaxed.owl dental caries of smooth surface|dental caries extending into pulp|dental caries pit and fissure DOID:216|MESH:D003731|UMLS:C0011334|ICD10:K02.6|ICD9:521.00|EFO:0003819|NCIT:C52593|ICD10:K02|ICD10:K02.9|ICD9:521.07|ICD9:521.06|SCTID:80967001|ICD9:521.0 owl:Class UBERON:0014767 biolink:NamedThing left crus of diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014765 biolink:NamedThing crus of diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011383 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2A A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl ALPS-CASP10|type 2 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type IIA|autoimmune lymphoproliferative syndrome, type 2A|CASP10 autoimmune lymphoproliferative syndrome|type 2 ALPS|ALPS2A|autoimmune lymphoproliferative syndrome caused by mutation in CASP10|autoimmune lymphoproliferative syndrome type IIA|autoimmune lymphoproliferative syndrome, type 2|autoimmune lymphoproliferative syndrome-CASP10 variant NCIT:C39576|DOID:0110115|Orphanet:3261|MESH:C565833|UMLS:C1519709|UMLS:C1858968|OMIM:603909|ICD10:D47.9 owl:Class MONDO:0017979 biolink:NamedThing autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. tmpte7i6ely_mondo_relaxed.owl autoimmune lymphoproliferative syndrome type 1, autosomal dominant|Canale-Smith syndrome|ALPS|FAS deficiency|ALPS (autoimmune lymphoproliferative syndrome) OMIM:603909|GARD:0008686|ICD10:D47.9|MESH:D056735|MedDRA:10069521|ICD10:D89.82|DOID:6688|OMIM:601859|NCIT:C37864|Orphanet:3261|CSP:1560-5548|ICD9:279.41|UMLS:C1328840|OMIM:615559|SCTID:702444009 owl:Class GO:0034761 biolink:NamedThing positive regulation of iron ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl upregulation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|up regulation of transmembrane iron ion transport|up-regulation of transmembrane iron ion transport|positive regulation of iron ion membrane transport|positive regulation of transmembrane iron ion transport|activation of transmembrane iron ion transport|stimulation of transmembrane iron ion transport owl:Class GO:0034758 biolink:NamedThing positive regulation of iron ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl stimulation of iron ion transport|positive regulation of iron transport|up regulation of iron ion transport|upregulation of iron ion transport|activation of iron ion transport|up-regulation of iron ion transport owl:Class UBERON:0003123 biolink:NamedThing pharyngeal arch artery 6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004363 biolink:NamedThing pharyngeal arch artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005543 biolink:NamedThing autoimmune hepatitis type 1 Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA). tmpte7i6ely_mondo_relaxed.owl type 1 AIH|autoimmune hepatitis type 1 SCTID:721711009|ICD9:571.49|SCTID:197284004|Orphanet:563576 owl:Class MONDO:0016264 biolink:NamedThing autoimmune hepatitis Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma. tmpte7i6ely_mondo_relaxed.owl autoimmune chronic active hepatitis|AIH|autoimmune liver disease|autoimmune chronic hepatitis|autoimmune hepatitis|autoimmune hepatitis with centrilobular necrosis|chronic autoimmune hepatitis ICD10:K75.4|MedDRA:10003827|DOID:2048|ICD9:571.42|EFO:0005676|SCTID:197284004|GARD:0005871|NCIT:C27029|SCTID:408335007|MESH:D019693|Orphanet:2137|UMLS:C1332355|OMIM:109100|UMLS:C0241910 owl:Class MONDO:0031003 biolink:NamedThing hypercholanemia, familial, 2 tmpte7i6ely_mondo_relaxed.owl NTCP Deficiency|FHCA2 OMIM:619256 owl:Class MONDO:0100327 biolink:NamedThing hypercholanemia, familial tmpte7i6ely_mondo_relaxed.owl hypercholanemia, familial|familial hypercholanemia OMIMPS:607748 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001459 biolink:NamedThing radial neuropathy Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus. tmpte7i6ely_mondo_relaxed.owl peripheral neuropathy of radial nerve|radial nerve peripheral neuropathy DOID:12171|UMLS:C0748226|MESH:D020425|SCTID:16644004 owl:Class MONDO:0006683 biolink:NamedThing brachial plexus neuropathy A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. tmpte7i6ely_mondo_relaxed.owl brachial plexopathy|brachial nerve plexus peripheral neuropathy|brachial plexus disorder|peripheral neuropathy of brachial nerve plexus MESH:D020516|NCIT:C27194|EFO:1000844|ICD10:G54.0|ICD9:353.0|DOID:3690|SCTID:3548001|UMLS:C0700251 owl:Class GO:0046885 biolink:NamedThing regulation of hormone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpte7i6ely_mondo_relaxed.owl regulation of hormone biosynthesis|regulation of hormone anabolism|regulation of hormone formation|regulation of hormone synthesis owl:Class GO:0051176 biolink:NamedThing positive regulation of sulfur metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpte7i6ely_mondo_relaxed.owl positive regulation of sulphur metabolism|up regulation of sulfur metabolic process|stimulation of sulfur metabolic process|upregulation of sulfur metabolic process|activation of sulfur metabolic process|positive regulation of sulfur metabolism|up-regulation of sulfur metabolic process|positive regulation of sulphur metabolic process owl:Class UBERON:0006955 biolink:NamedThing uterine epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045980 biolink:NamedThing negative regulation of nucleotide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpte7i6ely_mondo_relaxed.owl downregulation of nucleotide metabolic process|negative regulation of nucleotide metabolism|inhibition of nucleotide metabolic process|down regulation of nucleotide metabolic process|down-regulation of nucleotide metabolic process owl:Class GO:0051348 biolink:NamedThing negative regulation of transferase activity Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpte7i6ely_mondo_relaxed.owl downregulation of transferase activity|down regulation of transferase activity|inhibition of transferase activity|down-regulation of transferase activity|transferase inhibitor owl:Class GO:0051338 biolink:NamedThing regulation of transferase activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpte7i6ely_mondo_relaxed.owl transferase regulator owl:Class MONDO:0000519 biolink:NamedThing corpus callosum oligodendroglioma A oligodendroglioma that involves the corpus callosum. tmpte7i6ely_mondo_relaxed.owl oligodendroglioma of corpus callosum|corpus callosum oligodendroglioma DOID:0050901 owl:Class MONDO:0002544 biolink:NamedThing brain oligodendroglioma A oligodendroglioma that involves the brain. tmpte7i6ely_mondo_relaxed.owl oligodendroglioma of the brain|brain oligodendroglioma|oligodendroglioma of brain NCIT:C9377|UMLS:C0346286|DOID:3187|SCTID:254940005 owl:Class UBERON:0009955 biolink:NamedThing neurogenic placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002546 biolink:NamedThing cranial placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007804 biolink:NamedThing Pallister-Hall syndrome Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. tmpte7i6ely_mondo_relaxed.owl ano-cerebro-digital syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|Pallister Hall syndrome|Pallister-Hall syndrome|PHS|hypothalamic hamartoblastoma syndrome OMIM:146510|NCIT:C84987|UMLS:C0265220|Orphanet:672|DOID:9248|ICD9:759.89|ICD10:D33.0|GARD:0007305|SCTID:56677004|MESH:D054975 https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome owl:Class MONDO:0019721 biolink:NamedThing syndromic renal or urinary tract malformation A renal or urinary tract malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract|syndromic renal or urinary tract malformation UMLS:CN227683|Orphanet:93547 owl:Class HGNC:7127 biolink:NamedThing MLH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018050 biolink:NamedThing tibial aplasia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. tmpte7i6ely_mondo_relaxed.owl SHFLD syndrome|split-hand/foot malformation with long bone deficiency|split hand/foot malformation with long bone deficiency|aplasia of tibia with split-hand/split-foot deformity|tibial hemimelia with split hand/foot malformation|aplasia of tibia with ectrodactyly|split-hand/foot malformation associated with aplasia of long bones|SHFLD|tibial aplasia with split-hand/split-foot deformity|tibial hemimelia-ectrodactyly syndrome|SHFM associated with aplasia of long bones|TH-SHFM|ectrodactyly with aplasia of long bones GARD:0001369|OMIM:612576|OMIM:119100|OMIM:610685|ICD10:Q73.8|Orphanet:3329 https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia owl:Class CHEBI:38147 biolink:NamedThing cardiotonic drug A drug that has a strengthening effect on the heart or that can increase cardiac output. tmpte7i6ely_mondo_relaxed.owl cardiotonic drugs owl:Class CHEBI:35554 biolink:NamedThing cardiovascular drug A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. tmpte7i6ely_mondo_relaxed.owl cardiovascular drugs|cardiovascular agent owl:Class MONDO:0014067 biolink:NamedThing short ulna-dysmorphism-hypotonia-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 35|mental retardation, autosomal recessive 35|MRT35 UMLS:C3554609|ICD10:Q87.8|Orphanet:357175|OMIM:615162 owl:Class UBERON:0036291 biolink:NamedThing myocardium of anterior wall of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002349 biolink:NamedThing myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032877 biolink:NamedThing neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures|NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES|NEDBAS OMIM:618709 owl:Class MONDO:0012563 biolink:NamedThing holoprosencephaly 9 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features|holoprosencephaly 9|GLI2 holoprosencephaly|holoprosencephaly with microphthalmia and first branchial Arch anomalies|holoprosencephaly caused by mutation in GLI2|holoprosencephaly type 9|HPE9 UMLS:C1835819|Orphanet:2162|OMIM:610829|DOID:0110873 owl:Class MONDO:0017219 biolink:NamedThing microform holoprosencephaly Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly-like|HPE-L|Microform HPE|Holoprosencéphalie, minor form|HPE, minor form|HoloprosencC)phalie, minor form ICD10:Q04.2|DOID:0111380|OMIM:609637|OMIM:610829|UMLS:CN236719|OMIM:147250|Orphanet:280200|UMLS:CN202701|OMIM:157170 owl:Class MONDO:0009384 biolink:NamedThing Leydig cell hypoplasia, type 1 Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene. tmpte7i6ely_mondo_relaxed.owl Leydig cell hypoplasia, complete|Leydig cell Hypoplasia, type 2|Leydig cell hypoplasia, type I|Leydig cell agenesis|hypergonadotropic hypogonadism, Male, due to Lhcgr defect|Leydig cell hypoplasia, partial|Leydig cell hypoplasia with male pseudohermaphroditism|Leydig cell hypoplasia caused by mutation in LHCGR|luteinizing hormone resistance, female|LHCGR Leydig cell hypoplasia Orphanet:755|OMIM:238320|Orphanet:96266|Orphanet:96265 owl:Class MONDO:0019155 biolink:NamedThing Leydig cell hypoplasia A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. tmpte7i6ely_mondo_relaxed.owl 46,XY disorder of sex development due to LH resistance or LHB deficiency|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to LH defects|Male pseudohermaphroditism due to LH resistance or LHB deficiency|46,XY DSD due to LH resistance or LHB deficiency|LH resistance due to LH receptor deactivation|Male hypergonadotropic hypogonadism due to LHCGR defect|46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|Leydig cell agenesis GARD:0003244|Orphanet:755|OMIM:238320|MedDRA:10024406|ICD10:Q56.1 owl:Class GO:1904064 biolink:NamedThing positive regulation of cation transmembrane transport Any process that activates or increases the frequency, rate or extent of cation transmembrane transport. tmpte7i6ely_mondo_relaxed.owl activation of cation transmembrane transport|up regulation of cation transmembrane transport|upregulation of cation transmembrane transport|up-regulation of cation transmembrane transport owl:Class UBERON:0001840 biolink:NamedThing semicircular canal tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5583 biolink:NamedThing Exophiala tmpte7i6ely_mondo_relaxed.owl Wangiella|Nadsoniella GC_ID:1 NCBITaxon:108021|NCBITaxon:52865 ncbi_taxonomy owl:Class NCBITaxon:43219 biolink:NamedThing Herpotrichiellaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:82104 ncbi_taxonomy owl:Class MONDO:0012789 biolink:NamedThing dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. tmpte7i6ely_mondo_relaxed.owl DYT16|DYT-PRKRA|PRKRA dystonic disorder|Young-onset dystonia-(parkinsonism)|dystonia type 16|dystonia 16|early-onset dystonia parkinsonism|dystonic disorder caused by mutation in PRKRA MESH:C567430|ICD10:G24.1|OMIM:612067|UMLS:C2677567|Orphanet:210571|SCTID:722435003|DOID:0090048|GARD:0010539 https://rarediseases.info.nih.gov/diseases/10539/dystonia-16 owl:Class MONDO:0044807 biolink:NamedThing inherited dystonia An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary dystonic disorder|familial dystonia|rare genetic dystonic disorder|rare genetic dystonia UMLS:CN227322|OMIMPS:128100|Orphanet:391799|NCIT:C35527 owl:Class MONDO:0012438 biolink:NamedThing pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. tmpte7i6ely_mondo_relaxed.owl olivopontocerebellar hypoplasia fetal-onset|pontocerebellar hypoplasia, type 5|olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|PCH5 GARD:0010709|OMIM:610204|Orphanet:166068|ICD10:Q04.3|SCTID:718607001|MESH:C537745|UMLS:C1857762|DOID:0060274 https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 owl:Class MONDO:0008377 biolink:NamedThing retinitis pigmentosa 1 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa|retinitis pigmentosa caused by mutation in RP1|retinitis pigmentosa 1|RP1|RP1 retinitis pigmentosa|RP|retinitis pigmentosa type 1 OMIM:180100|ICD10:H35.5|GARD:0009149|UMLS:C0035334|UMLS:C0220701|DOID:0110390|MESH:C538365 owl:Class UBERON:0000481 biolink:NamedThing multi-tissue structure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004387 biolink:NamedThing epiphysis of phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001437 biolink:NamedThing epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014611 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 4 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene. tmpte7i6ely_mondo_relaxed.owl fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2|ISCA2 fatal multiple mitochondrial dysfunctions syndrome|MMDS4|multiple mitochondrial dysfunctions syndrome 4|multiple mitochondrial dysfunctions syndrome type 4 DOID:0080136|UMLS:C4225348|OMIM:616370|Orphanet:457406 owl:Class MONDO:0018609 biolink:NamedThing syndromic hereditary optic neuropathy A hereditary optic neuropathy that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy Orphanet:441434|UMLS:CN237645 owl:Class MONDO:0018181 biolink:NamedThing staphylococcal scalded skin syndrome A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection. tmpte7i6ely_mondo_relaxed.owl SSSS|generalized exfoliative disease|staphylococcal scalded skin syndrome|Ritter disease|toxic epidermal necrolysis, subcorneal type|scalded skin syndrome|Ritter's disease|pemphigus neonatorum|dermatitis exfoliativa neonatorum MedDRA:10041929|DOID:9063|UMLS:C0038165|NCIT:C85077|ICD9:695.81|SCTID:200946001|SCTID:277475006|Orphanet:36236|ICD10:L00|MESH:D013206|UMLS:C0678185|EFO:0007473 owl:Class MONDO:0005545 biolink:NamedThing staphylococcus aureus infection An infectious process in which the bacteria Staphylococcus aureus is present. tmpte7i6ely_mondo_relaxed.owl EFO:0005681|SCTID:406602003|NCIT:C122576|NCIT:C35038 owl:Class ENVO:01001681 biolink:NamedThing weather front A gaseous front which separates two masses of air with different densities and is a principal cause of meteorological phenomena. tmpte7i6ely_mondo_relaxed.owl meteorological front owl:Class ENVO:01001680 biolink:NamedThing gaseous front A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011205 biolink:NamedThing medium chain 3-ketoacyl-Coa thiolase deficiency tmpte7i6ely_mondo_relaxed.owl Mckat deficiency|medium-chain 3-ketoacyl-coa thiolase deficiency|medium chain 3-ketoacyl-Coa thiolase deficiency GARD:0010329|OMIM:602199|MESH:C566566|UMLS:C1865781 https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency owl:Class HGNC:3618 biolink:NamedThing FCGR2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060752 biolink:NamedThing neurodevelopmental disorder with spasticity and poor growth tmpte7i6ely_mondo_relaxed.owl NEDSG|neurodevelopmental disorder with spasticity and poor growth OMIM:618076 owl:Class MONDO:0017421 biolink:NamedThing non-syndromic terminal limb defects tmpte7i6ely_mondo_relaxed.owl terminal meromelia|isolated terminal limb defects|terminal limb defects|nonsyndromic terminal limb defects Orphanet:294929 owl:Class MONDO:0019713 biolink:NamedThing non-syndromic limb reduction defect tmpte7i6ely_mondo_relaxed.owl non-syndromic limb hypoplasia|nonsyndromic limb reduction defect|isolated limb reduction defect ICD10:Q71.9|ICD10:Q71.1|ICD10:Q72.8|ICD10:Q71.5|ICD10:Q71.4|ICD10:Q71.3|ICD10:Q72.1|ICD10:Q72.9|ICD10:Q71.0|ICD10:Q71.6|ICD10:Q73.8|Orphanet:93457|ICD10:Q73.1|ICD10:Q72.6|ICD10:Q71.8|ICD10:Q71.2|ICD10:Q72.7|ICD10:Q72.3|ICD10:Q73.0|ICD10:Q72.0|ICD10:Q72.2|ICD10:Q72.5|ICD10:Q72.4 owl:Class ECTO:3000005 biolink:NamedThing exposure to humans A history of exposure to Homo sapiens. tmpte7i6ely_mondo_relaxed.owl Homo sapiens exposure owl:Class ECTO:3000000 biolink:NamedThing exposure to organism A history of exposure to root. tmpte7i6ely_mondo_relaxed.owl root exposure owl:Class MONDO:0001754 biolink:NamedThing eclampsia A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. tmpte7i6ely_mondo_relaxed.owl postpartum eclampsia|eclampsia in puerperium|eclampsia, postpartum NCIT:C87167|SCTID:303063000|UMLS:C0013537|ICD9:642.64|ICD10:O15.9|DOID:13593|ICD10:O15|UMLS:C0156678|GARD:0006316|MESH:D004461 https://rarediseases.info.nih.gov/diseases/6316/eclampsia owl:Class MONDO:0045048 biolink:NamedThing toxemia of pregnancy A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. tmpte7i6ely_mondo_relaxed.owl toxemia of pregnancy NCIT:C34943 owl:Class MONDO:0015268 biolink:NamedThing medullary sponge kidney Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. tmpte7i6ely_mondo_relaxed.owl Cacchi-Ricci disease|cystic dilatation of renal collecting tubes|Cacchi Ricci disease|sponge kidney|Precalicial canalicular ectasia|Cacchi-Ricci syndrome|MSK|Precalyceal canalicular ectasia SCTID:236443009|NCIT:C34751|GARD:0000232|MESH:D007691|OMIM:174000|UMLS:C0022681|MedDRA:10027104|ICD9:753.17|ICD10:Q61.5|Orphanet:1309 https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney owl:Class MONDO:0002473 biolink:NamedThing cystic kidney disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. tmpte7i6ely_mondo_relaxed.owl kidney cyst|cystic renal disease|renal cyst ICD10:Q61|UMLS:C0022679|NCIT:C34750|DOID:2975|MESH:D052177|SCTID:722223000 owl:Class GO:1902271 biolink:NamedThing D3 vitamins binding Binding to D3 vitamins. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005499 biolink:NamedThing vitamin D binding Binding to vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpte7i6ely_mondo_relaxed.owl calciferol binding|ergocalciferol binding|cholecalciferol binding owl:Class GO:0031346 biolink:NamedThing positive regulation of cell projection organization Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpte7i6ely_mondo_relaxed.owl positive regulation of cell projection organization and biogenesis|up-regulation of cell projection organization|activation of cell projection organization|upregulation of cell projection organization|positive regulation of cell projection organisation|stimulation of cell projection organization|up regulation of cell projection organization owl:Class GO:0031344 biolink:NamedThing regulation of cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpte7i6ely_mondo_relaxed.owl regulation of cell projection organization and biogenesis|regulation of cell projection organisation owl:Class MONDO:0019262 biolink:NamedThing juvenile neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. tmpte7i6ely_mondo_relaxed.owl Spielmeyer-Vogt disease|juvenile neuronal ceroid lipofuscinosis|JNCL|batten disease|juvenile NCL OMIM:600143|OMIM:610127|ICD10:E75.4|MedDRA:10052073|OMIM:204500|OMIM:256730|DOID:0050756|SCTID:61663001|Orphanet:79264|OMIM:204200|OMIM:609055 Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs owl:Class CHEBI:33304 biolink:NamedThing chalcogen molecular entity Any p-block molecular entity containing a chalcogen. tmpte7i6ely_mondo_relaxed.owl chalcogen compounds|chalcogen molecular entities|chalcogen molecular entity owl:Class CHEBI:33675 biolink:NamedThing p-block molecular entity A main group molecular entity that contains one or more atoms of a p-block element. tmpte7i6ely_mondo_relaxed.owl p-block molecular entities|p-block compounds|p-block molecular entitiy owl:Class UBERON:0035639 biolink:NamedThing ocular adnexa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000477 biolink:NamedThing anatomical cluster tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044710 biolink:NamedThing lip and oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. tmpte7i6ely_mondo_relaxed.owl lip/oral cavity squam. cell car.|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell cancer|lip and oral cavity squamous cell carcinoma Orphanet:502369|UMLS:C0280297|NCIT:C42690 owl:Class MONDO:0010150 biolink:NamedThing head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. tmpte7i6ely_mondo_relaxed.owl SCCHN|head and neck squamous cell carcinoma|craniocervical region squamous cell carcinoma|carcinoma of the head and neck|squamous cell carcinoma of the head and neck|HNSCC|squamous cell carcinomas of head and neck|squamous cell carcinoma of head and neck|squamous cell carcinoma, head and neck MedDRA:10060121|UMLS:C1168401|DOID:5520|MESH:C535575|EFO:0000181|Orphanet:67037|NCIT:C34447|OMIM:275355|SCTID:716659002|ONCOTREE:HNSC owl:Class MONDO:0001409 biolink:NamedThing esophagitis An acute or chronic inflammatory disease affecting the esophageal wall. tmpte7i6ely_mondo_relaxed.owl esophagus inflammation|esophagitis (disease)|acute esophagitis|esophagitis|inflammation of esophagus esophagitis (disease) ICD9:530.12|UMLS:C0149882|ICD9:530.1|NCIT:C9224|SCTID:16761005|UMLS:C0014868|DOID:11963|MESH:D004941|ICD10:K20.9|HP:0100633|ICD9:530.10|ICD10:K20 owl:Class UBERON:0015251 biolink:NamedThing modified sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904539 biolink:NamedThing negative regulation of glycolytic process through fructose-6-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpte7i6ely_mondo_relaxed.owl down-regulation of glycolytic process through fructose-6-phosphate|negative regulation of glycolysis through fructose-6-phosphate|downregulation of glycolytic process through fructose-6-phosphate|downregulation of glycolysis through fructose-6-phosphate|down regulation of glycolysis through fructose-6-phosphate|down-regulation of glycolysis through fructose-6-phosphate|inhibition of glycolytic process through fructose-6-phosphate|down regulation of glycolytic process through fructose-6-phosphate|inhibition of glycolysis through fructose-6-phosphate owl:Class GO:0045820 biolink:NamedThing negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. tmpte7i6ely_mondo_relaxed.owl down regulation of glycolysis|inhibition of glycolysis|downregulation of glycolysis|down-regulation of glycolysis owl:Class HGNC:644 biolink:NamedThing AR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009093 biolink:NamedThing dermatoleukodystrophy Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. tmpte7i6ely_mondo_relaxed.owl Dermatoleukodystrophy GARD:0001813|OMIM:221790|UMLS:C1857314|ICD10:E75.2|MESH:C538220|Orphanet:1659|SCTID:733044009 https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy owl:Class MONDO:0009787 biolink:NamedThing 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. tmpte7i6ely_mondo_relaxed.owl Iraqi Jewish optic atrophy plus|MGA3|OPA3 3-methylglutaconic aciduria|autosomal recessive optic atrophy plus syndrome|3-methylglutaconic aciduria, type III|3-methylglutaconic aciduria type III|OPA3, autosomal recessive|OPA3 defect|Costeff syndrome|MGCA3|autosomal recessive optic atrophy type 3|Costeff optic atrophy syndrome|MGA type III|Iraqi-Jewish optic atrophy plus|Iraqi-Jewish 'optic atrophy plus'|3-methylglutaconic aciduria, type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|optic atrophy, infantile, with chorea and spastic paraplegia|optic atrophy infantile with chorea and spastic paraplegia|MGA, type 3|3-methylglutaconic aciduria caused by mutation in OPA3|infantile optic atrophy with chorea and spastic paraplegia|3-alpha methylglutaconic aciduria type III GARD:0005663|OMIM:258501|DOID:0110004|ICD10:E71.1|UMLS:C0574084|MESH:C535311|SCTID:297232009|Orphanet:67047 owl:Class MONDO:0017359 biolink:NamedThing 3-methylglutaconic aciduria A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. tmpte7i6ely_mondo_relaxed.owl MESH:C579867|UMLS:C3696376|ICD10:E71.1|Orphanet:289902|NCIT:C98678|ICD10:E71.111|SCTID:237950009|OMIMPS:250950|DOID:0060336 owl:Class CL:0002132 biolink:NamedThing stromal cell of ovary A stomal cell of the ovary tmpte7i6ely_mondo_relaxed.owl ovarian stromal cell FMA:72299 tmeehan 2010-08-23T12:10:31Z cell owl:Class CL:0000499 biolink:NamedThing stromal cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. tmpte7i6ely_mondo_relaxed.owl BTO:0002064|FMA:83624 cell owl:Class CL:0002159 biolink:NamedThing general ecto-epithelial cell Epithelial cells derived from general body ectoderm and ectoderm placodes. tmpte7i6ely_mondo_relaxed.owl FMA:70556 tmeehan 2010-08-26T08:31:08Z cell owl:Class CL:0002077 biolink:NamedThing ecto-epithelial cell An epithelial cell derived from ectoderm. tmpte7i6ely_mondo_relaxed.owl FMA:69074 tmeehan 2010-06-29T03:38:22Z cell owl:Class GO:0050921 biolink:NamedThing positive regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpte7i6ely_mondo_relaxed.owl upregulation of chemotaxis|stimulation of chemotaxis|up-regulation of chemotaxis|up regulation of chemotaxis|activation of chemotaxis owl:Class MONDO:0016844 biolink:NamedThing trisomy 20p Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. tmpte7i6ely_mondo_relaxed.owl partial trisomy 20p|trisomy type 20p|20p duplication|partial duplication of chromosome 20p|dup(20p)|partial trisomy of chromosome 20p|partial duplication of the short arm of chromosome 20|Duplication 20p|chromosome 20p duplication|Duplication of 20p|partial trisomy of the short arm of chromosome 20|20p trisomy|trisomy 20p Orphanet:261318|GARD:0005333|SCTID:111311004|ICD9:758.5|MESH:C535371|ICD10:Q92.2 owl:Class MONDO:0015431 biolink:NamedThing ring chromosome 10 Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases. tmpte7i6ely_mondo_relaxed.owl Ring chromosome 10 syndrome|chromosome 10 ring|Ring chromosome type 10|r10|Ring 10 GARD:0001322|SCTID:86997002|UMLS:CN037257|MESH:C538086|UMLS:C0265438|ICD10:Q93.2|Orphanet:1438 https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10 owl:Class MONDO:0700017 biolink:NamedThing chromosome 10 disorder Chromosomal disorder in which chromosome 10 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0006190 biolink:NamedThing endolymphatic sac tumor An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor. tmpte7i6ely_mondo_relaxed.owl endolymphatic sac neoplasm|ELST|neoplasm of endolymphatic sac|aggressive papillary tumor of the temporal bone|endolymphatic sac tumor (disease)|endolymphatic sac tumor|tumor of endolymphatic sac|endolymphatic sac neoplasm (disease) endolymphatic sac tumor (disease) ICDO:8260/1|UMLS:C2348239|SCTID:699817008|HP:0030393|NCIT:C67560|EFO:1000230|ICD9:212.0|GARD:0009270 owl:Class MONDO:0024320 biolink:NamedThing inner ear neoplasm A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. tmpte7i6ely_mondo_relaxed.owl tumor of internal ear|internal ear neoplasm (disease)|internal Ear neoplasm|internal ear neoplasm|inner Ear neoplasm|neoplasm of internal ear|internal ear tumor UMLS:C1512779|NCIT:C39784 owl:Class MONDO:0030702 biolink:NamedThing autoimmune atherosclerosis An autoimmune form of atherosclerosis. tmpte7i6ely_mondo_relaxed.owl DOID:0040096 owl:Class MONDO:0005311 biolink:NamedThing atherosclerosis Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. tmpte7i6ely_mondo_relaxed.owl atherosclerosis of artery|atherosclerosis artery|atherosclerotic cardiovascular disease DOID:1936|ICD10:I25.1|SCTID:441574008|ICD9:440.8|NCIT:C35768|EFO:0003914|ICD10:I70|MESH:D050197|NCIT:C35771|ICD9:440 Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here owl:Class CL:0000069 biolink:NamedThing branched duct epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000068 biolink:NamedThing duct epithelial cell An epithelial cell that is part of a duct. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0006358 biolink:NamedThing parotid gland squamous cell carcinoma An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. tmpte7i6ely_mondo_relaxed.owl parotid squamous cell carcinoma|squamous cell carcinoma of the parotid|squamous cell carcinoma of parotid gland|squamous cell carcinoma of parotid|squamous cell carcinoma of the parotid gland|parotid gland squamous cell carcinoma UMLS:C1335367|NCIT:C5942|EFO:1000463 owl:Class CL:1000296 biolink:NamedThing epithelial cell of urethra An epithelial cell that is part of the urethra. tmpte7i6ely_mondo_relaxed.owl FMA:256165 cell owl:Class CL:0000066 biolink:NamedThing epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. tmpte7i6ely_mondo_relaxed.owl epitheliocyte FMA:66768|BTO:0000414|FBbt:00000124|WBbt:0003672|CALOHA:TS-2026|CARO:0000077 cell owl:Class CHEBI:35627 biolink:NamedThing beta-lactam A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. tmpte7i6ely_mondo_relaxed.owl beta-Lactam|a beta-lactam|beta-lactams owl:Class CHEBI:24995 biolink:NamedThing lactam Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpte7i6ely_mondo_relaxed.owl Laktame|lactams|lactam|Laktam owl:Class UBERON:0029503 biolink:NamedThing sacral spinal cord gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002020 biolink:NamedThing gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019210 biolink:NamedThing cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). tmpte7i6ely_mondo_relaxed.owl neuroendocrine carcinoma of skin|trabecular skin carcinoma|trabecular cancer|Merkle tumors|Merkel cell carcinoma|MCC|cutaneous neuroendocrine carcinoma|neuroendocrine carcinoma of the skin|carcinoma of Merkel cell|neuroendocrine skin carcinoma|carcinoma, Merkel cell|cutaneous APUDoma|Merkel cell cancer|Merkel cell tumor Orphanet:79140|ICD10:C44.3|ICD10:C44.6|EFO:1001471|ONCOTREE:MCC|NCIT:C9231|ICDO:8247/3|UMLS:C0007129|MESH:D015266|ICD10:C44.7|SCTID:253001006|ICD9:209.36|GARD:0009266 owl:Class MONDO:0017341 biolink:NamedThing virus associated tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:289635|UMLS:CN203003 https://github.com/monarch-initiative/mondo/issues/254 owl:Class UBERON:0022299 biolink:NamedThing upper eyelid nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003437 biolink:NamedThing eyelid nerve tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:12845 biolink:NamedThing Swine influenza virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:35324 biolink:NamedThing unclassified Orthomyxoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002656 biolink:NamedThing skin carcinoma A carcinoma that arises from epithelial cells of the zone of skin tmpte7i6ely_mondo_relaxed.owl non-melanoma cancer of the skin|carcinoma of the skin|skin carcinoma|zone of skin carcinoma|carcinoma of skin|carcinoma of zone of skin|non-melanoma cancer of skin|non-melanoma skin cancer|nonmelanoma skin cancer|skin cancer, non-melanoma NCIT:C4914|DOID:3451|UMLS:C0699893 owl:Class MONDO:0021634 biolink:NamedThing epithelial skin neoplasm A epithelial neoplasm that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl skin epithelium tumor|epithelial skin neoplasm|epithelial skin tumor|skin epithelium neoplasm|zone of skin epithelial neoplasm NCIT:C7342|UMLS:C0345976 owl:Class OGMS:0000087 biolink:NamedThing extended organism An object aggregate consisting of an organism and all material entities located within the organism, overlapping the organism, or occupying sites formed in part by the organism. tmpte7i6ely_mondo_relaxed.owl From OGMS: http://purl.obolibrary.org/obo/OGMS_0000087 creation date: 2010-01-25T04:51:11Z http://code.google.com/p/ogms/issues/detail?id=3 Albert Goldfain owl:Class BFO:0000040 biolink:NamedThing material entity An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. tmpte7i6ely_mondo_relaxed.owl MaterialEntity material BFO 2 Reference: Material entities (continuants) can preserve their identity even while gaining and losing material parts. Continuants are contrasted with occurrents, which unfold themselves in successive temporal parts or phases [60|BFO 2 Reference: Object, Fiat Object Part and Object Aggregate are not intended to be exhaustive of Material Entity. Users are invited to propose new subcategories of Material Entity.|BFO 2 Reference: ‘Matter’ is intended to encompass both mass and energy (we will address the ontological treatment of portions of energy in a later version of BFO). A portion of matter is anything that includes elementary particles among its proper or improper parts: quarks and leptons, including electrons, as the smallest particles thus far discovered; baryons (including protons and neutrons) at a higher level of granularity; atoms and molecules at still higher levels, forming the cells, organs, organisms and other material entities studied by biologists, the portions of rock studied by geologists, the fossils studied by paleontologists, and so on.Material entities are three-dimensional entities (entities extended in three spatial dimensions), as contrasted with the processes in which they participate, which are four-dimensional entities (entities extended also along the dimension of time).According to the FMA, material entities may have immaterial entities as parts – including the entities identified below as sites; for example the interior (or ‘lumen’) of your small intestine is a part of your body. BFO 2.0 embodies a decision to follow the FMA here. A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002]) a human being|an aggregate of human beings.|an epidemic|a forest fire|a tornado|a photon|an energy wave|the undetached arm of a human being|a sea wave|a flame|a hurricane|a puff of smoke (forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] |(forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] |(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])|every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002]) owl:Class MONDO:0007727 biolink:NamedThing autosomal dominant familial periodic fever Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. tmpte7i6ely_mondo_relaxed.owl tumor necrosis factor receptor-associated periodic syndrome|TNF receptor-associated periodic fever syndrome|tumor necrosis factor receptor 1-associated periodic syndrome|familial Hibernian fever|TNF receptor 1-associated periodic syndrome|TRAPS|tumor necrosis factor receptor 1 associated periodic syndrome|periodic FEVER, familial, autosomal dominant|Hibernian fever, familial|FHF|TRAPS syndrome|FPF|TNF receptor-associated periodic syndrome MESH:C536657|OMIM:142680|GARD:0008457|NCIT:C119051|SCTID:403833009|Orphanet:32960|DOID:0090018|ICD10:E85.0 owl:Class MONDO:0017953 biolink:NamedThing hereditary periodic fever syndrome An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary periodic fever syndrome MESH:D056660|ICD10:E85.0|Orphanet:324924|UMLS:CN204099 owl:Class MONDO:0010110 biolink:NamedThing tetraamelia-multiple malformations syndrome Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. tmpte7i6ely_mondo_relaxed.owl TETRAAMELIA syndrome, autosomal recessive|Zimmer phocomelia|TETAMS|Zimmer Taub Sova syndrome|Tetraamelia multiple malformations X-linked ICD10:Q87.8|GARD:0000386|UMLS:C2931218|SCTID:716249009|MESH:C536500|Orphanet:3301 TODO split OMIM out owl:Class MONDO:0043008 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|genetic MCA|hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:330206 owl:Class ENVO:01001275 biolink:NamedThing solid layer A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000281 biolink:NamedThing layer A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008287 biolink:NamedThing Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. tmpte7i6ely_mondo_relaxed.owl Greig syndrome|Greig's syndrome|Greig cephalopolysyndactyly syndrome|polysyndactyly with peculiars skull shape|polysyndactyly with peculiar skull Shape|Greig cephalosyndactyly syndrome|GCPS UMLS:C0265306|DOID:14761|MedDRA:10053878|Orphanet:380|OMIM:175700|GARD:0006550|ICD10:Q87.0|SCTID:32985001|NCIT:C35255|MESH:C537300 https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome owl:Class MONDO:0002314 biolink:NamedThing chronic conjunctivitis Conjunctivitis that is persistent and long-standing. tmpte7i6ely_mondo_relaxed.owl chronic conjunctivitis|chronic conjunctivitis, unspecified|chronic conjunctivitis (disease)|conjunctivitis (disease), chronic ICD10:H10.40|NCIT:C35197|ICD9:372.10|UMLS:C0155145|ICD9:372.1|ICD10:H10.4|SCTID:73762008|DOID:2475 owl:Class MONDO:0003799 biolink:NamedThing conjunctivitis Inflammation of the conjunctiva of the eye. tmpte7i6ely_mondo_relaxed.owl Madras eye|inflammation of conjunctiva|conjunctiva inflammation|conjunctivitis (disease)|pink eye|conjunctivitis conjunctivitis (disease) SCTID:9826008|UMLS:C0009763|ICD10:H10|HP:0000509|NCIT:C34504|MESH:D003231|DOID:6195|ICD10:H10.9|ICD9:372.39|ICD9:372.30 owl:Class GO:0051241 biolink:NamedThing negative regulation of multicellular organismal process Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpte7i6ely_mondo_relaxed.owl down-regulation of multicellular organismal process|down regulation of multicellular organismal process|downregulation of multicellular organismal process|inhibition of multicellular organismal process owl:Class MONDO:0000651 biolink:NamedThing thoracic disorder A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. tmpte7i6ely_mondo_relaxed.owl disease or disorder of thoracic segment of trunk|thoracic segment of trunk disease or disorder|disease of thoracic segment of trunk|disorder of thorax|thoracic disorder|thoracic segment of trunk disease|disorder of thoracic segment of trunk|thoracic disease 2022-04-01 SCTID:609622007|NCIT:C35742|DOID:0060118|SCTID:118946009|MESH:D013896|UMLS:C0039978|UMLS:C3661979 Reason: grouping class. Term to consider: none owl:Class MONDO:0014783 biolink:NamedThing preimplantation embryonic lethality 1 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene. tmpte7i6ely_mondo_relaxed.owl Prembl|TLE6 preimplantation embryonic lethality|PREMBL1|preimplantation embryonic lethality type 1|preimplantation embryonic lethality caused by mutation in TLE6|preimplantation embryonic lethality 1|preimplantation embryonic lethality 1; PREMBL1 OMIM:616814|UMLS:C4225197 owl:Class MONDO:0000218 biolink:NamedThing preimplantation embryonic lethality tmpte7i6ely_mondo_relaxed.owl OMIMPS:616814|UMLS:CN282827 Editor note: this is a phenotypic feature rather than disease, consider obsoleting owl:Class MONDO:0014166 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 2 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. tmpte7i6ely_mondo_relaxed.owl paroxysmal nocturnal hemoglobinuria 2|PNH2|PIGT paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria type 2|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT UMLS:C3809369|Orphanet:447|OMIM:615399 owl:Class MONDO:0100243 biolink:NamedThing inherited paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. tmpte7i6ely_mondo_relaxed.owl hereditary paroxysmal nocturnal hemoglobinuria 2022-04-01 OMIM:300818|OMIM:615399|OMIMPS:300818 Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0021477 biolink:NamedThing benign neoplasm of sphenoidal sinus A non-metastasizing neoplasm that arises from the sphenoid sinus. tmpte7i6ely_mondo_relaxed.owl benign sphenoidal sinus tumor|benign sphenoidal sinus neoplasm|benign tumor of sphenoidal sinus|benign tumor of the sphenoidal sinus|benign sphenoid sinus neoplasm|sphenoidal sinus benign neoplasm|benign neoplasm of the sphenoidal sinus|benign tumor of sphenoid sinus|benign tumor of the sphenoid sinus|benign neoplasm of sphenoid sinus|benign sphenoid sinus tumor|benign neoplasm of the sphenoid sinus UMLS:C0345678|ICD9:212.0|NCIT:C4422|SCTID:92404006 owl:Class MONDO:0004047 biolink:NamedThing sphenoidal sinus neoplasm A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of sphenoid sinus|tumor of the sphenoid sinus|tumor of the sphenoidal sinus|sphenoid sinus tumor|neoplasm of the sphenoidal sinus|sphenoidal sinus neoplasm (disease)|tumor of sphenoid sinus|sphenoidal sinus tumor|sphenoid sinus neoplasm|neoplasm of sphenoidal sinus|neoplasm of the sphenoid sinus|tumor of sphenoidal sinus|sphenoidal sinus neoplasm SCTID:126679002|DOID:6947|NCIT:C6792|UMLS:C0345676 MONDO:0021216 owl:Class MONDO:0016880 biolink:NamedThing partial deletion of chromosome 18 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 18|partial deletion of chromosome type 18 ICD10:Q93.5|Orphanet:261836 owl:Class MONDO:0020054 biolink:NamedThing partial autosomal monosomy tmpte7i6ely_mondo_relaxed.owl partial autosomal deletion 2022-04-01 ICD10:Q93.4|ICD10:Q93.3|ICD10:Q93.5|Orphanet:98142 Reason: grouping class. Term to consider: MONDO:0000761 MONDO:0000761 owl:Class MONDO:0004007 biolink:NamedThing breast intraductal proliferative lesion A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma. tmpte7i6ely_mondo_relaxed.owl mammary intraepithelial neoplasia, ductal type|intraductal proliferative lesion of the breast|DIN|ductal intraepithelial neoplasia|intraductal proliferative lesion UMLS:C1334631|NCIT:C27942|DOID:6839 owl:Class MONDO:0002488 biolink:NamedThing intraductal breast neoplasm A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ. tmpte7i6ely_mondo_relaxed.owl intraductal breast neoplasm DOID:3013|UMLS:C0948967|NCIT:C36083 owl:Class GO:0051956 biolink:NamedThing negative regulation of amino acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down regulation of amino acid transport|down-regulation of amino acid transport|inhibition of amino acid transport|downregulation of amino acid transport|negative regulation of amino acid transmembrane transport owl:Class GO:0032891 biolink:NamedThing negative regulation of organic acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl inhibition of organic acid transport|downregulation of organic acid transport|down regulation of organic acid transport|down-regulation of organic acid transport owl:Class HP:0001321 biolink:NamedThing Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. tmpte7i6ely_mondo_relaxed.owl Small cerebellum|Hypoplastic cerebellum|Hypoplasia of cerebellum|Congenital cerebellar hypoplasia|Underdeveloped cerebellum MSH:C562568|UMLS:C0266470|SNOMEDCT_US:16026008 By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. HP:0007053|HP:0007038|HP:0006910|HP:0006806 human_phenotype owl:Class HP:0007360 biolink:NamedThing Aplasia/Hypoplasia of the cerebellum tmpte7i6ely_mondo_relaxed.owl Atrophy/Hypoplasia of the cerebellum|Atrophy/Degeneration affecting the cerebellum|Absent/small cerebellum|Absent/underdeveloped cerebellum|Cerebellar hypoplasia/atrophy UMLS:C3279222 peter 2008-03-31T05:30:00Z HP:0006857|HP:0007368 human_phenotype owl:Class UBERON:0002325 biolink:NamedThing epithelium of urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005911 biolink:NamedThing endo-epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012356 biolink:NamedThing pedal acropodium region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012354 biolink:NamedThing acropodium region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007645 biolink:NamedThing gastric sneezing tmpte7i6ely_mondo_relaxed.owl stomach sneeze reflex|gastric sneezing 2022-04-01 OMIM:137130|UMLS:C1850930|MESH:C564990 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class GO:0006110 biolink:NamedThing regulation of glycolytic process Any process that modulates the frequency, rate or extent of glycolysis. tmpte7i6ely_mondo_relaxed.owl regulation of glycolysis involved in cellular glucose homeostasis owl:Class GO:0042325 biolink:NamedThing regulation of phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010056 biolink:NamedThing future tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013765 biolink:NamedThing digestive system element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012860 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal recessive tmpte7i6ely_mondo_relaxed.owl autosomal recessive hereditary thrombophilia due to protein C deficiency|Protein C deficiency, autosomal recessive|autosomal recessive protein C deficiency|hereditary thrombophilia due to congenital protein C deficiency|THPH4|thrombophilia due to PROTEIN C deficiency, autosomal recessive|thrombophilia due to protein C deficiency, autosomal recessive|hereditary thrombophilia due to PC deficiency|Proc deficiency, autosomal recessive UMLS:C2676759|GARD:0013041|MESH:C567353|OMIM:612304|Orphanet:745 owl:Class MONDO:0019145 biolink:NamedThing hereditary thrombophilia due to congenital protein C deficiency Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. tmpte7i6ely_mondo_relaxed.owl severe hereditary thrombophilia due to congenital protein C deficiency|hereditary thrombophilia due to congenital protein C deficiency|Protein C deficiency|protein C deficiency|Protein C deficiency disease|hereditary thrombophilia due to PC deficiency|autosomal recessive thrombophilia due to PC deficiency|autosomal recessive thrombophilia due to congenital protein C deficiency SCTID:76407009|OMIM:612304|DOID:3756|NCIT:C99025|Orphanet:745|OMIM:176860|ICD10:D68.2|MESH:D020151|ICD10:D68.59|MESH:C535424 owl:Class MONDO:0000468 biolink:NamedThing third-degree atrioventricular block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) tmpte7i6ely_mondo_relaxed.owl atrioventricular block complete|complete AV block|atrioventricular block, third degree|non-congenital complete atrioventricular block|third degree atrioventricular block|AV block third degree|third degree AV block|complete atrioventricular block|complete heart block DOID:0050823|ICD9:426.0|SCTID:27885002|NCIT:C50501|UMLS:C0151517 owl:Class MONDO:0015110 biolink:NamedThing genetic cardiac rhythm disease An instance of cardiac rhythm disease that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic cardiac rhythm disease Orphanet:101934|UMLS:CN197467 owl:Class UBERON:0001778 biolink:NamedThing ciliary epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002056 biolink:NamedThing breast fibroadenoma A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported. tmpte7i6ely_mondo_relaxed.owl fibroadenoma of breast|breast fibroadenoma|fibroadenoma of the breast|juvenile fibroadenoma|Complex fibroadenoma of breast|cellular fibroadenoma|fibroadenoma|fibroadenoma, benign|FA|juvenile fibroadenoma of breast|juvenile fibroadenoma (morphologic abnormality) UMLS:C0178421|NCIT:C3744|ICDO:9010/0|SCTID:254847007|EFO:1000254|MESH:D018226|ICD10:D24|ONCOTREE:FA|UMLS:C0346158|DOID:1618|UMLS:C0206650 owl:Class MONDO:0013060 biolink:NamedThing autosomal recessive Parkinson disease 14 A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. tmpte7i6ely_mondo_relaxed.owl dystonia-parkinsonism, Paisan-Ruiz type|hereditary late onset Parkinson disease caused by mutation in PLA2G6|PARK14|PLA2G6-related dystonia-parkinsonism|PLA2G6 hereditary late onset Parkinson disease|dystonia-Parkinsonism Adult-onset|autosomal recessive Parkinson disease type 14|adult-onset dystonia - parkinsonism|autosomal recessive Parkinson's disease 14|Parkinson disease 14, autosomal recessive|dystonia-Parkinsonism, adult-onset GARD:0012568|OMIM:612953|UMLS:C2751842|ICD10:G24.1|MESH:C567844|Orphanet:199351|SCTID:720466001|DOID:0060900 owl:Class MONDO:0008199 biolink:NamedThing late-onset Parkinson disease A Parkinson disease that begins after around the age of 50. tmpte7i6ely_mondo_relaxed.owl autosomal dominant late-onset Parkinson disease|Parkinson disease, late-onset|LOPD|late onset Parkinson disease|PD|late-onset Parkinson disease|hereditary late-onset Parkinson disease|hereditary late onset Parkinson disease|late onset Parkinson's disease|PARK OMIM:616361|OMIM:607060|ICD10:G20|OMIM:168601|Orphanet:411602|OMIM:605543|DOID:0060892|OMIM:614203|OMIM:607688|OMIM:614251|SCTID:716662004|UMLS:C3160718|OMIM:168600 owl:Class MONDO:0001764 biolink:NamedThing ethmoidal sinus neoplasm A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl ethmoidal sinus neoplasm|tumor of the ethmoid sinus|ethmoid sinus tumor|neoplasm of ethmoidal sinus|ethmoid sinus neoplasm (disease)|ethmoidal sinus tumor|tumor of ethmoidal sinus|ethmoid sinus neoplasm|neoplasm of ethmoid sinus|tumor of ethmoid sinus|tumor of the ethmoidal sinus|neoplasm of the ethmoidal sinus|neoplasm of the ethmoid sinus NCIT:C4416|UMLS:C0345668|SCTID:126677000|DOID:1364 MONDO:0021215 owl:Class MONDO:0005289 biolink:NamedThing paranasal sinus neoplasm A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of the accessory sinus|neoplasm of paranasal sinus|paranasal sinus neoplasm|accessory sinus neoplasm|accessory sinus tumor|tumor of the paranasal sinus|paranasal sinus neoplasm (disease)|neoplasm of the paranasal sinus|paranasal sinus neoplasms|paranasal sinus tumor|tumor of accessory sinus|neoplasm of accessory sinus|tumor of the accessory sinus|tumor of paranasal sinus paranasal sinus neoplasm (disease) HP:0030072|EFO:0003866|SCTID:126675008|NCIT:C7488|UMLS:C0030470|DOID:1350 owl:Class MONDO:0005626 biolink:NamedThing epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. tmpte7i6ely_mondo_relaxed.owl epithelioma|epithelial neoplasm EFO:0006858|SCTID:118285006|MESH:D009375|NCIT:C3709 owl:Class MONDO:0008601 biolink:NamedThing triglyceride storage disease, type 1 tmpte7i6ely_mondo_relaxed.owl triglyceride storage disease, type I MESH:C566031|OMIM:190420|UMLS:C1860821 owl:Class MONDO:0000155 biolink:NamedThing triglyceride storage disease An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride. tmpte7i6ely_mondo_relaxed.owl inborn error of sequestering of triglyceride|inborn sequestering of triglyceride disorder|rare inborn error of sequestering of triglyceride See text of OMIM 190430. owl:Class GO:0140241 biolink:NamedThing translation at synapse Translation that occurs at the synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006412 biolink:NamedThing translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. tmpte7i6ely_mondo_relaxed.owl protein translation|protein anabolism|protein biosynthetic process|protein biosynthesis|protein synthesis|protein formation owl:Class MONDO:0044014 biolink:NamedThing postpartum thyroiditis A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum tmpte7i6ely_mondo_relaxed.owl thyroiditides, postpartum|thyroiditis, post-partum|thyroiditis, postpartum|post-partum thyroiditides|postpartum thyroiditides|post partum thyroiditis|postpartum thyroiditis|post-partum thyroiditis|thyroiditides, post-partum UMLS:C0271815|SCTID:52772002|NCIT:C114389|MESH:D050032 owl:Class MONDO:0004126 biolink:NamedThing thyroiditis Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. tmpte7i6ely_mondo_relaxed.owl thyroiditis|inflammation of thyroid gland|thyroiditis (disease)|thyroid gland inflammation thyroiditis (disease) ICD10:E06|HP:0100646|MESH:D013966|DOID:7166|ICD10:E06.9|UMLS:C0040147|ICD9:245|NCIT:C26894|SCTID:82119001|ICD9:245.9 owl:Class MONDO:0100429 biolink:NamedThing intrahepatic cholestasis of pregnancy A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. tmpte7i6ely_mondo_relaxed.owl MESH:C535932|Orphanet:69665 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class CHEBI:76741 biolink:NamedThing EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*). tmpte7i6ely_mondo_relaxed.owl oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitor|inhibitor of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitors|inhibitors of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitor|inhibitors of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitor of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitor|EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitors owl:Class UBERON:0000063 biolink:NamedThing organ subunit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014523 biolink:NamedThing juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome tmpte7i6ely_mondo_relaxed.owl ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus|combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome|ACPHD Orphanet:445062|OMIM:616192|UMLS:C4015436 owl:Class MONDO:0021642 biolink:NamedThing vulval varices A varicose disease that involves the mammalian vulva. tmpte7i6ely_mondo_relaxed.owl varicose disease of mammalian vulva|mammalian vulva varicose disease ICD9:456.6|UMLS:C0155796|ICD10:I86.3|SCTID:48868008|HP:0100677 owl:Class MONDO:0008638 biolink:NamedThing varicose disease A vascular disease characterized by the presence of enlarged and tortuous veins. tmpte7i6ely_mondo_relaxed.owl varicose veins|Venous varices|varices|Venous ectasia|varix ICD9:456.8|ICD10:I83.90|UMLS:C0042345|SCTID:128060009|OMIM:192200|DOID:799|ICD9:454.9|NCIT:C35114|MESH:D014648 owl:Class UBERON:0004539 biolink:NamedThing right kidney tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002113 biolink:NamedThing kidney tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007757 biolink:NamedThing hyperkeratosis-hyperpigmentation syndrome Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl hyperkeratosis-hyperpigmentation syndrome Orphanet:1336|UMLS:C1840428|MESH:C564172|ICD10:Q82.8|OMIM:144190 owl:Class OBO:CHR_9606-chr20p1 biolink:NamedThing 20p1 (Human) tmpte7i6ely_mondo_relaxed.owl 28100000 0 hg38 owl:Class MONDO:0006028 biolink:NamedThing cecum adenocarcinoma A carcinoma that arises from glandular epithelial cells of the caecum tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the cecum|cecum adenocarcinoma|caecum adenocarcinoma|cecal adenocarcinoma|adenocarcinoma of cecum NCIT:C5543|UMLS:C1332866|SCTID:413446001|EFO:1000020|DOID:3039 owl:Class MONDO:0002271 biolink:NamedThing colon adenocarcinoma A carcinoma that arises from glandular epithelial cells of the colon tmpte7i6ely_mondo_relaxed.owl colonic adenocarcinoma|COAD|adenocarcinoma - colon|adenocarcinoma of the colon|adenocarcinoma of colon|colon adenocarcinoma EFO:1001949|ONCOTREE:COAD|UMLS:C0338106|DOID:234|NCIT:C4349 owl:Class MONDO:0003429 biolink:NamedThing functioning pituitary gland adenoma A hormone producing pituitary gland adenoma, associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl functioning adenoma of pituitary|secretory adenoma of pituitary gland|functioning adenoma of pituitary gland|functioning pituitary adenoma|functioning adenoma of the pituitary gland|secretory adenoma of the pituitary|secretory pituitary gland adenoma|secreting pituitary adenoma|endocrine active pituitary adenoma|secretory adenoma of pituitary|functioning pituitary gland adenoma|secretory adenoma of the pituitary gland|functioning pituitary gland adenoma (benign)|secretory pituitary adenoma|functioning adenoma of the pituitary UMLS:C0854486|DOID:5395|Orphanet:314753|NCIT:C8388 owl:Class MONDO:0016184 biolink:NamedThing qualitative or quantitative defects of protein O-mannosyltransferase 1 tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of protein O-mannosyltransferase type 1 Orphanet:209030 owl:Class UBERON:0000126 biolink:NamedThing cranial nerve nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011640 biolink:NamedThing genitopatellar syndrome Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. tmpte7i6ely_mondo_relaxed.owl absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability|GTPTS|absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|genitopatellar syndrome|GENITOPATELLAR syndrome ICD10:Q87.8|GARD:0010994|Orphanet:85201|ICD9:759.89|OMIM:606170|UMLS:C1853566|MESH:C565255|SCTID:702367005 https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome owl:Class MONDO:0019712 biolink:NamedThing patellar dysostosis tmpte7i6ely_mondo_relaxed.owl Orphanet:93455 owl:Class MONDO:0037748 biolink:NamedThing hyperlipoproteinemia An elevated concentration of lipoproteins. tmpte7i6ely_mondo_relaxed.owl hyperlipoproteinemia HP:0010980|NCIT:C34709|UMLS:C0020476 owl:Class MONDO:0005066 biolink:NamedThing metabolic disease A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. tmpte7i6ely_mondo_relaxed.owl metabolic process disease|disease of metabolism|metabolic disorder|metabolic disease|disorder of metabolic process EFO:0000589|SCTID:75934005|ICD9:277.9|DOID:0014667|UMLS:C0025517|ICD9:277.8|ICD10:E70.E90|ICD10:E88.9|MESH:D008659|NCIT:C3235 owl:Class MONDO:0008806 biolink:NamedThing Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. tmpte7i6ely_mondo_relaxed.owl Johnson Munson syndrome|APHALANGY with hemivertebrae|Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|Johnson-Munson syndrome UMLS:C1859754|Orphanet:1112|GARD:0003051|ICD10:Q87.8|OMIM:207620|MESH:C535881|SCTID:733118006 owl:Class MONDO:0013161 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. tmpte7i6ely_mondo_relaxed.owl POMGNT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related|muscular dystrophy, limb-girdle, type 2O|muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|LGMD2O|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3|LGMD-POMGNT1 related|limb-girdle muscular dystrophy type 2O|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|MDDGC3 ICD10:G71.0|UMLS:C3150417|OMIM:613157|GARD:0012540|Orphanet:206564|DOID:0110292 owl:Class MONDO:0015152 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy Autosomal recessive form of limb-girdle muscular dystrophy. tmpte7i6ely_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, autosomal recessive|limb-girdle muscular dystrophy, autosomal recessive Orphanet:102015|MESH:C538640|ICD10:G71.0|OMIMPS:253600|DOID:0110274|UMLS:C2931907 owl:Class NCBITaxon:11029 biolink:NamedThing Ross River virus tmpte7i6ely_mondo_relaxed.owl RRV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11019 biolink:NamedThing Alphavirus tmpte7i6ely_mondo_relaxed.owl Alphaviridae|arboviruses group A GC_ID:1 ncbi_taxonomy owl:Class CHEBI:37246 biolink:NamedThing elemental sodium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26712 biolink:NamedThing sodium molecular entity tmpte7i6ely_mondo_relaxed.owl sodium compounds|sodium molecular entities owl:Class GO:0061134 biolink:NamedThing peptidase regulator activity Binds to and modulates the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:783 biolink:NamedThing Rickettsia rickettsii tmpte7i6ely_mondo_relaxed.owl Dermacentroxenus rickettsii GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:114277 biolink:NamedThing spotted fever group tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:9734038 ncbi_taxonomy owl:Class GO:1901564 biolink:NamedThing organonitrogen compound metabolic process The chemical reactions and pathways involving organonitrogen compound. tmpte7i6ely_mondo_relaxed.owl organonitrogen compound metabolism owl:Class GO:0071704 biolink:NamedThing organic substance metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. tmpte7i6ely_mondo_relaxed.owl organic substance metabolism|organic molecular entity metabolic process|organic molecular entity metabolism owl:Class MONDO:0018574 biolink:NamedThing intellectual disability-expressive aphasia-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability-loss of expressive language-facial dysmorphism syndrome OMIM:616083|OMIM:616078|UMLS:CN237587|Orphanet:436151|ICD10:Q87.0 owl:Class MONDO:0015269 biolink:NamedThing symmetrical thalamic calcifications Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. tmpte7i6ely_mondo_relaxed.owl bilateral symmetrical thalamic gliosis UMLS:C4304914|ICD10:G93.8|SCTID:719164000|GARD:0005070|Orphanet:1314 https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications owl:Class MONDO:0005071 biolink:NamedThing nervous system disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. tmpte7i6ely_mondo_relaxed.owl nervous system disease|disease or disorder of nervous system|nervous system disorder|disorder of nervous system|nervous system disease or disorder|neurological disease|neurologic disease|neurologic disorder|disease of nervous system|neurological disorder SCTID:118940003|ICD10:G00.G99|ICD9:349.9|ICD10:G98|MESH:D009422|ICD9:349.89|DOID:863|NCIT:C2934|NCIT:C26835|Wikipedia:Nervous_system_disease|EFO:0000618|UMLS:C0027765|ICD10:G98.8|ICD10:G00-G99 owl:Class MONDO:0008459 biolink:NamedThing spinocerebellar atrophy with pupillary paralysis tmpte7i6ely_mondo_relaxed.owl spinocerebellar atrophy with pupillary paralysis UMLS:C1866746|OMIM:183100|MESH:C566668 owl:Class UBERON:0011112 biolink:NamedThing tibiofibular joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003840 biolink:NamedThing hindlimb joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011775 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 1 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene. tmpte7i6ely_mondo_relaxed.owl TP53 nasopharyngeal carcinoma|nasopharyngeal cancer|nasopharyngeal carcinoma|nasopharyngeal carcinoma caused by mutation in TP53|NPC|nasopharyngeal carcinoma, susceptibility to, 1|Npca UMLS:C1846758|OMIM:607107|UMLS:C2931822|Orphanet:150 owl:Class MONDO:0015459 biolink:NamedThing nasopharyngeal carcinoma A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl cancer of the nasopharynx|nasopharyngeal carcinoma|NPC|malignant neoplasm of nasopharynx|malignant neoplasm of roof of nasopharynx|primary malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of superior wall of nasopharynx|squamous cell carcinoma of the nasopharynx|malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of other specified sites of nasopharynx|malignant neoplasm of posterior wall of nasopharynx|malignant tumor of lateral wall of nasopharynx|nasopharyngeal throat cancer|malignant neoplasm of lateral wall of nasopharynx|malignant tumor of anterior wall of nasopharynx|malignant neoplasm of nasopharynx (disorder) [ambiguous]|carcinoma of nasopharynx|cancer of nasopharynx|malignant neoplasm of nasopharyngeal wall|malignant nasopharyngeal tumor|nasopharyngeal cancer|malignant tumor of posterior wall of nasopharynx|carcinoma of the nasopharynx|nasopharynx carcinoma SCTID:187692001|MESH:D00007727|MESH:D009303|ICD9:147|ICD10:C11.3|DOID:9261|UMLS:C2931822|ICD9:147.1|UMLS:C0153392|ICD10:C11|ONCOTREE:NPC|UMLS:C3647449|UMLS:C0153395|ICD10:C11.2|UMLS:C0153393|UMLS:C3665551|NCIT:C9321|ICD9:147.2|ICD9:147.3|NCIT:C3871|SCTID:363398003|Orphanet:150|UMLS:CN199582|ICD10:C11.1|OMIM:161550|ICD10:C11.9|UMLS:C0238301|UMLS:C0153394|MedDRA:10028793|UMLS:C0153396|MESH:C538339|ICD9:147.9|OMIM:617075|ICD9:147.0|ICD10:C11.0|OMIM:607107 owl:Class GO:0032274 biolink:NamedThing gonadotropin secretion The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. tmpte7i6ely_mondo_relaxed.owl gonadotrophin secretion owl:Class GO:0060986 biolink:NamedThing endocrine hormone secretion The regulated release of a hormone into the circulatory system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011663 biolink:NamedThing juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. tmpte7i6ely_mondo_relaxed.owl juvenile PLS|PLSJ|Pls, juvenile|primary lateral sclerosis, juvenile|JPLS|PLS juvenile OMIM:606353|ICD10:G12.2|MESH:C536416|SCTID:717964007|GARD:0004485|UMLS:C1853396|Orphanet:247604 https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis owl:Class MONDO:0018155 biolink:NamedThing lateral sclerosis Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. tmpte7i6ely_mondo_relaxed.owl PLS|adult-onset PLS|primary lateral sclerosis|adult-onset primary lateral sclerosis UMLS:C0154682|MESH:D016472|NCIT:C129933|ICD10:G12.2|DOID:230|OMIM:611637|SCTID:81211007|ICD10:G12.29|ICD9:335.24|GARD:0010684|MedDRA:10036704|Orphanet:35689 owl:Class MONDO:0014723 biolink:NamedThing PMP22-RAI1 contiguous gene duplication syndrome tmpte7i6ely_mondo_relaxed.owl YUHAL|Yuan-Harel-Lupski syndrome|17p11.2p12 microduplication syndrome|YUAN-Harel-Lupski syndrome|trisomy 17p11.2-p12|trisomy 17p11.2p12|dup(17)(p11.2p12) Orphanet:477817|OMIM:616652|UMLS:C4225255 owl:Class MONDO:0043346 biolink:NamedThing progressive transformation of germinal centers Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl PTGC|progressive transformation of Germinal centers MESH:C548085|GARD:0010712|NCIT:C38408 Editor note: represents a finding in NCIT owl:Class GO:1904228 biolink:NamedThing positive regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpte7i6ely_mondo_relaxed.owl upregulation of glycogen synthase activity, transferring glucose-1-phosphate|up-regulation of glycogen synthase activity, transferring glucose-1-phosphate|activation of glycogen synthase activity, transferring glucose-1-phosphate|up regulation of glycogen synthase activity, transferring glucose-1-phosphate owl:Class MONDO:0100228 biolink:NamedThing LAMA2-related muscular dystrophy Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene. tmpte7i6ely_mondo_relaxed.owl LAMA2-related muscular dystrophy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016149 biolink:NamedThing qualitative or quantitative defects of merosin tmpte7i6ely_mondo_relaxed.owl Orphanet:207094 owl:Class GO:0043123 biolink:NamedThing positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. tmpte7i6ely_mondo_relaxed.owl up-regulation of I-kappaB kinase/NF-kappaB cascade|activation of I-kappaB kinase/NF-kappaB cascade|upregulation of I-kappaB kinase/NF-kappaB cascade|up regulation of I-kappaB kinase/NF-kappaB cascade|stimulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade owl:Class GO:0043122 biolink:NamedThing regulation of I-kappaB kinase/NF-kappaB signaling Any process that modulates I-kappaB kinase/NF-kappaB signaling. tmpte7i6ely_mondo_relaxed.owl regulation of I-kappaB kinase/NF-kappaB cascade owl:Class GO:0060688 biolink:NamedThing regulation of morphogenesis of a branching structure Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011348 biolink:NamedThing non-syndromic polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. tmpte7i6ely_mondo_relaxed.owl Extra digits|isolated polydactyly|nonsyndromic polydactyly|supernumerary digits|isolated polydactyly (disease)|polydactylia|nonsyndromic polydactyly (disease) GARD:0004410|ICD10:Q69.2|OMIM:603596|ICD10:Q69.1|Orphanet:2913|MedDRA:10036063|ICD10:Q69.9|ICD10:Q69.0 Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0019714 biolink:NamedThing non-syndromic polydactyly, syndactyly and/or hyperphalangy tmpte7i6ely_mondo_relaxed.owl isolated polydactyly, syndactyly and/or hyperphalangy|nonsyndromic polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 owl:Class MONDO:0022553 biolink:NamedThing BD syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0000841 https://rarediseases.info.nih.gov/diseases/841/bd-syndrome owl:Class MONDO:0010787 biolink:NamedThing Kearns-Sayre syndrome Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. tmpte7i6ely_mondo_relaxed.owl KSS|Kearns-Sayre syndrome|ophthalmoplegia, progressive external, with ragged-Red fibers|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with myopathy|CPEO with ragged-Red fibers|ophthalmoplegia, progressive external, with ragged red fibers|oculocraniosomatic syndrome|CPEO with ragged red fibers|ophthalmoplegia plus syndrome|chronic progressive external ophthalmoplegia with myopathy|mitochondrial Cytopathy|ophthalmoplegia-plus syndrome Orphanet:480|ICD10:H49.81|DOID:12934|UMLS:C0022541|MESH:D007625|SCTID:25792000|MedDRA:10048804|ICD10:H49.8|GARD:0006817|NCIT:C84798|OMIM:530000 https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome owl:Class GO:0045829 biolink:NamedThing negative regulation of isotype switching Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching. tmpte7i6ely_mondo_relaxed.owl negative regulation of class switch recombination|inhibition of isotype switching|down-regulation of isotype switching|downregulation of isotype switching|negative regulation of class switching|down regulation of isotype switching|negative regulation of isotype switch recombination owl:Class MONDO:0024313 biolink:NamedThing staphylococcal infection An infection caused by Staphylococcus. tmpte7i6ely_mondo_relaxed.owl staphylococcal infection MESH:D013203|SCTID:56038003|NCIT:C35038 owl:Class MONDO:0016542 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. tmpte7i6ely_mondo_relaxed.owl IL10-related early-onset inflammatory bowel disease|IL10-related early-onset IBD|autosomal recessive early-onset inflammatory bowel disease|autosomal recessive early-onset IBD UMLS:CN201623|GARD:0013016|ICD10:K52.8|OMIM:613148|OMIM:615767|Orphanet:238569|OMIM:612567 owl:Class HGNC:3330 biolink:NamedThing EML1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002698 biolink:NamedThing negative regulation of immune effector process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. tmpte7i6ely_mondo_relaxed.owl down-regulation of immune effector process|downregulation of immune effector process|down regulation of immune effector process|inhibition of immune effector process owl:Class MONDO:0016386 biolink:NamedThing hypogonadotropic hypogonadism-retinitis pigmentosa syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. tmpte7i6ely_mondo_relaxed.owl Chang-Davidson-Carlson syndrome Orphanet:2235|MESH:C538075|UMLS:C2931722 owl:Class MONDO:0015770 biolink:NamedThing congenital hypogonadotropic hypogonadism Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpte7i6ely_mondo_relaxed.owl UMLS:C3899503|Orphanet:174590|NCIT:C120162|SCTID:722944006|ICD10:E23.0 owl:Class MONDO:0005498 biolink:NamedThing botulism A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. tmpte7i6ely_mondo_relaxed.owl intoxication with Clostridium botulinum toxin|infant botulism (subtype)|foodborne botulism|botulism poisoning|wound botulism (subtype)|botulism|foodborne botulism (subtype)|food poisoning due to Clostridium botulinum|infection due to Clostridium botulinum DOID:11976|NCIT:C84599|SCTID:398523009|EFO:0005542|Orphanet:1267|GARD:0000943|ICD10:A05.1|CSP:5000-0060|UMLS:C0006057|SCTID:398530003|MedDRA:10006041|MESH:D001906|SCTID:398565003 https://rarediseases.info.nih.gov/diseases/943/botulism owl:Class MONDO:0020010 biolink:NamedThing infectious disorder of the nervous system A infectious disease that involves the nervous system. tmpte7i6ely_mondo_relaxed.owl nervous system infectious disease|nervous system infectious disorder SCTID:128116006|Orphanet:98010|NCIT:C27590|UMLS:C0597039|ICD9:349.89 owl:Class CL:0002188 biolink:NamedThing glomerular endothelial cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. tmpte7i6ely_mondo_relaxed.owl FMA:70970|BTO:0004632 tmeehan 2010-08-26T10:59:44Z cell owl:Class CL:0000115 biolink:NamedThing endothelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. tmpte7i6ely_mondo_relaxed.owl endotheliocyte BTO:0001176|FMA:66772|CALOHA:TS-0278 From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. cell owl:Class PATO:0001375 biolink:NamedThing haploid A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001393 biolink:NamedThing euploid A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020516 biolink:NamedThing thymic neuroendocrine carcinoma Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. tmpte7i6ely_mondo_relaxed.owl thymic neuroendocrine carcinoma|thymus neuroendocrine carcinoma|neuroendocrine carcinoma of thymus ICD10:C37|UMLS:C2210965|UMLS:CN207412|SCTID:716653001|Orphanet:99869 owl:Class MONDO:0006451 biolink:NamedThing thymic carcinoma Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential. tmpte7i6ely_mondo_relaxed.owl thymoma type C|malignant thymoma|thymic carcinoma|type C thymoma|thymoma, type C|thymic carcinoma excluding well differentiated thymic carcinoma|carcinoma of thymus|thymus carcinoma|thymoma, malignant (morphologic abnormality)|thymoma, type C (morphologic abnormality)|thymic carcinoma (excluding well differentiated thymic carcinoma)|thymoma, malignant|THYC UMLS:C0205969|Orphanet:99868|ONCOTREE:THYC|UMLS:CN207411|ICDO:8586/3|DOID:4554|ICD10:C37|NCIT:C7569|MedDRA:10061031|SCTID:444374006|DOID:3284|UMLS:C1322286|GARD:0011952|EFO:1000576 owl:Class MONDO:0008439 biolink:NamedThing spastic paraplegia-epilepsy-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl spastic paraplegia epilepsy mental retardation|spastic paraplegia, epilepsy, and mental retardation|spastic paraplegia epilepsy intellectual disability|SPEMR|spastic paraplegia, epilepsy, and intellectual disability|spemr Orphanet:2816|UMLS:C1866854|ICD10:G11.4|MESH:C536869|GARD:0004915|OMIM:182610 Editor note: TODO fix GARD spelling owl:Class MONDO:0015087 biolink:NamedThing autosomal dominant complex spastic paraplegia Autosomal dominant form of complex hereditary spastic paraplegia. tmpte7i6ely_mondo_relaxed.owl autosomal dominant complicated SPG|autosomal dominant complex hereditary spastic paraplegia|complex hereditary spastic paraplegia, autosomal dominant|autosomal dominant complicated HSP|autosomal dominant complex HSP|autosomal dominant complex SPG|autosomal dominant complicated spastic paraplegia ICD10:G11.4|Orphanet:100979|UMLS:CN226593 owl:Class CL:0002541 biolink:NamedThing chorionic membrane mesenchymal stem cell A mesenchymal stem cell of the chorionic membrane. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T03:04:35Z cell owl:Class CL:0000134 biolink:NamedThing mesenchymal stem cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. tmpte7i6ely_mondo_relaxed.owl BMSC|bone marrow stromal cells|mesenchymal stromal cell|mesenchymal progenitor cells|mesenchymal precursor cell|colony-forming unit-fibroblast|MSC|mesenchymal stromal cells|stem cells, mesenchymal|mesenchymal stem cell|CFU-F|marrow stromal cells FMA:70546|BTO:0002625|BTO:0003298 Many but not all mesenchymal cells derive from the mesoderm. MSCs are reportedly CD3-negative, CD4-negative, CD5-negative, CD8-negative, CD11a-negative, CD11b-negative, CD14-negative, CD19-negative, CD29-positive, CD31-negative, CD34-negative, CD38-negative, CD40-negative, CD44-positive, CD45-negative, CD49-positive, CD54-positive, CD66b-negative, CD79a-negative, CD80-negative, CD102-positive, CD106-positive, CD117-positive, CD121a-positive, CD121b-positive, CD123-positive, CD124-positive, CD133-negative, CD146-positive, CD166-positive, CD271-positive, B220-negative, Gr1-negative, MHCI-positive, MHCII-negative, SSEA4-negative, sca1-positive, Ter119-negative, and glycophorin A-negative. Cultured MSCs are capable of producing stem cell factor, IL7, IL8, IL11, TGF-beta, cofilin, galectin-1, laminin-receptor 1, cyclophilin A, and MMP-2. CL:0002452 cell https://github.com/obophenotype/cell-ontology/issues/474 owl:Class MONDO:0030298 biolink:NamedThing angioedema, hereditary, 8 tmpte7i6ely_mondo_relaxed.owl HAE8|angioedema, hereditary, 8 OMIM:619367 owl:Class MONDO:0011144 biolink:NamedThing ceroid lipofuscinosis, neuronal, 6A A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpte7i6ely_mondo_relaxed.owl CLN6A|neuronal ceroid lipofuscinosis type 6|neuronal ceroid lipofuscinosis 6|neuronal ceroid lipofuscinosis 6 variable age of onset|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|ceroid lipofuscinosis, neuronal, 6|vLINCL|CLN6 disease, adult Kufs type A (subtype)|CLN6 disease, late infantile (subtype)|ceroid lipofuscinosis, neuronal, type 6|CLN6|CLN6 disease|ceroid lipofuscinosis, neuronal, 6, variable age at onset|neuronal ceroid lipofuscinosis, late infantile, variant|CLN6 late infantile neuronal ceroid lipofuscinosis|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6 Orphanet:168491|MESH:C566627|DOID:0110729|Orphanet:228363|OMIM:601780|Orphanet:79262|GARD:0001224|ICD10:E75.4 https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 owl:Class MONDO:0008768 biolink:NamedThing ceroid lipofuscinosis, neuronal, 6B (Kufs type) Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. tmpte7i6ely_mondo_relaxed.owl neuronal ceroid lipofuscinosis caused by mutation in CLN6|neuronal ceroid lipofuscinosis type 4A|CLN4A disease|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN4A|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive|Kuf's disease, autosomal recessive|CLN6 neuronal ceroid lipofuscinosis|adult neuronal ceroid lipofuscinosis 4A|Kuf's disease type A|neuronal ceroid lipofuscinosis 4A OMIM:204300|Orphanet:79262|ICD10:E75.4|DOID:0110730|UMLS:C0022797|Orphanet:228340|GARD:0006845 owl:Class HGNC:31670 biolink:NamedThing ENO4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011963 biolink:NamedThing Joubert syndrome 2 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome type 2|JBTS2|Joubert syndrome caused by mutation in TMEM216|CORS2|cerebellooculorenal syndrome 2|TMEM216 Joubert syndrome|Joubert syndrome 2|Cerebellooculorenal syndrome 2 DOID:0110988|UMLS:C1842577|MESH:C536294|OMIM:608091|GARD:0010167|Orphanet:2318 https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 owl:Class MONDO:0018772 biolink:NamedThing Joubert syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. tmpte7i6ely_mondo_relaxed.owl Joubert-Boltshauser syndrome|pure Joubert syndrome|Joubert syndrome|cerebellar vermis agenesis|CPD IV|Joubert syndrome type A|cerebelloparenchymal disorder IV|JBTS|classic Joubert syndrome OMIM:614615|OMIM:614173|OMIM:617120|OMIM:616781|OMIMPS:213300|OMIM:614424|SCTID:716997004|DOID:0050777|Orphanet:475|GARD:0006802|OMIM:614464|OMIM:610688|OMIM:616490|OMIM:213300|OMIM:617121|OMIM:616784|OMIM:614970|OMIM:612291|NCIT:C74996|OMIM:616654|OMIM:615636|ICD10:Q04.3 owl:Class MONDO:0021118 biolink:NamedThing intestinal neoplasm A benign or malignant neoplasm involving the small or large intestine. tmpte7i6ely_mondo_relaxed.owl intestinal neoplasms|intestine neoplasm (disease)|intestine tumor|intestine neoplasm|neoplasm of intestines|neoplasm of intestinal tract|tumor of intestine|intestine growth|intestinal tumors|bowel neoplasm|intestinal benign neoplasm|neoplasm of intestine|tumor of the intestines|intestinal tumor|intestinal neoplasm|tumor of intestines|neoplasm of the intestines DOID:4610|MESH:D007414|ONCOTREE:BOWEL|SCTID:126769007|NCIT:C3141 owl:Class MONDO:0005020 biolink:NamedThing intestinal disorder A non-neoplastic or neoplastic disorder that affects the small or large intestine. tmpte7i6ely_mondo_relaxed.owl intestine disease or disorder|disease or disorder of intestine|disorder of intestine|intestine disease|disease of intestine|disease, intestinal|intestinal disorder|intestinal disease|diseases, intestinal SCTID:85919009|ICD9:569.9|ICD9:569|ICD9:564.4|ICD9:560-569.99|ICD9:520-579.99|SCTID:53619000|ICD9:575|NCIT:C26801|MESH:D005767|ICD9:569.4|ICD9:570-579.99|ICD9:564|MESH:D007410|DOID:5295|ICD9:569.49|ICD10:K63.9|ICD9:569.89 owl:Class HGNC:10848 biolink:NamedThing SHH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030375 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 tmpte7i6ely_mondo_relaxed.owl IMNEPD2 OMIM:619418 owl:Class MONDO:0024189 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset tmpte7i6ely_mondo_relaxed.owl OMIMPS:616263 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011938 biolink:NamedThing atrial septal defect 2 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpte7i6ely_mondo_relaxed.owl atrial septal defect 2|atrial heart septal defect caused by mutation in GATA4|atrial septal defect type 2|atrial heart septal defect type 2|GATA4 atrial heart septal defect|ASD2 MESH:C538263|ICD10:Q21.1|UMLS:C1842778|Orphanet:1478|OMIM:607941|DOID:0110107 owl:Class MONDO:0005941 biolink:NamedThing retroperitoneal cancer A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. tmpte7i6ely_mondo_relaxed.owl malignant retroperitoneal cancer|malignant tumor of peritoneum and retroperitoneum|malignant retroperitoneal space neoplasm|cancer of retroperitoneal space|malignant neoplasm of retroperitoneum|malignant neoplasm of retroperitoneal space|neoplasm of retroperitoneum|retroperitoneal neoplasm|retroperitoneal space cancer|malignant neoplasm of retroperitoneum and peritoneum|malignant retroperitoneal neoplasm|tumor of retroperitoneum|neoplasm of the retroperitoneum ICD9:158.0|NCIT:C3537|ICD10:C48|SCTID:126872008|DOID:5875|ICD9:158|MESH:D012186|ICD10:C48.0|EFO:0007466 owl:Class UBERON:0003371 biolink:NamedThing pelvic appendage bud ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000490 biolink:NamedThing unilaminar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005902 biolink:NamedThing peanut allergic reaction Allergic reaction to peanuts that is triggered by the immune system. tmpte7i6ely_mondo_relaxed.owl peanut allergy|allergy to peanuts|nut allergic reaction of pigmented ciliary epithelial cell|pigmented ciliary epithelial cell nut allergic reaction|peanut allergic reaction UMLS:C0559470|ICD9:995.3|MESH:D021183|EFO:0007425|DOID:4378|SCTID:91935009 owl:Class MONDO:0005271 biolink:NamedThing allergic disease An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. tmpte7i6ely_mondo_relaxed.owl allergic disease or disorder|disorder of type I hypersensitivity|type I hypersensitivity disease|allergic response|hypersensitivity|allergy|hypersensitivity reaction type I disease|allergic form of immune system disease|allergic reaction|allergic hypersensitivity disease|allergic form of disease or disorder EFO:0003785|NCIT:C3114|DOID:1205|SCTID:609328004|UMLS:C1527304|ICD9:995.3|NCIT:C114476|ICD9:V15.09|ICD10:T78.40|MESH:D006967 owl:Class MONDO:0013134 biolink:NamedThing glaucoma 1, open angle, O Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene. tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, type O|open-angle glaucoma caused by mutation in NTF4|GLC1O|glaucoma 1, open angle, O|NTF4 open-angle glaucoma MESH:C567753|UMLS:C2751294|OMIM:613100 owl:Class MONDO:0005338 biolink:NamedThing open-angle glaucoma Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. tmpte7i6ely_mondo_relaxed.owl wide-angle glaucoma|glaucoma, primary open angle|open angle glaucoma|pigmentary glaucoma|glaucoma simplex|primary open angle glaucoma|POAG SCTID:46168003|ICD10:H40.10|NCIT:C34641|OMIM:609887|OMIM:606689|SCTID:84494001|DOID:1067|UMLS:C0017612|ICD10:H40.1|OMIM:603383|OMIM:611274|ICD9:365.1|OMIM:611276|OMIM:609745|OMIM:613100|EFO:0004190|OMIM:602429|OMIM:601682|OMIM:608696|ICD9:365.10|OMIM:137760|ICD10:H40.13|OMIM:606657|ICD9:365.13|MESH:D005902|OMIM:610535|OMIM:177700|OMIM:608695|OMIM:137750 https://github.com/monarch-initiative/mondo/issues/2507 owl:Class MONDO:0007247 biolink:NamedThing basal ganglia calcification, idiopathic, childhood-onset tmpte7i6ely_mondo_relaxed.owl cerebral calcification nonarteriosclerotic idiopathic childhood-onset|idiopathic basal ganglia calcification childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|bilateral striopallidodentate calcinosis childhood-onset|striopallidodentate calcinosis, bilateral, childhood-onset|IBGC, childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset|IBGC childhood onset OMIM:114100|UMLS:C1861967|GARD:0009598|MESH:C536276|Orphanet:51 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset owl:Class MONDO:0008947 biolink:NamedThing bilateral striopallidodentate calcinosis A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. tmpte7i6ely_mondo_relaxed.owl cerebrovascular ferrocalcinosis|basal ganglia calcification, idiopathic|Fahr disease|PFBC|BSPDC|idiopathic basal ganglia calcification|basal ganglia degeneration with calcification|basal ganglia calcification|primary familial brain calcification ICD10:G23.8|OMIM:114100|Orphanet:1980|UMLS:C0393589|OMIM:606656|OMIM:615007|MedDRA:10059626|HP:0002135|MESH:C536275|UMLS:CN852731|SCTID:230311004|OMIM:615483|OMIMPS:213600|ICD9:333.0|OMIM:616413|ICD9:348.89|SCTID:110997000|DOID:0060230|OMIM:213600|UMLS:C0393590 Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1 owl:Class MONDO:0010035 biolink:NamedThing Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. tmpte7i6ely_mondo_relaxed.owl Smith-Opitz-inborn syndrome|7-dehydrocholesterol reductase deficiency|Smith Lemli Opitz syndrome|lethal acrodysgenital syndrome|Rutledge lethal multiple congenital anomaly syndrome|SLO syndrome|Smith-Lemli-Opitz syndrome|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|polydactyly, sex reversal, renal hypoplasia, and unilobular lung|SLOS|RSH syndrome ICD10:E78.72|DOID:14692|GARD:0005683|MESH:D019082|ICD10:Q87.1|NCIT:C85071|ICD9:759.89|UMLS:C0175694|SCTID:43929004|OMIM:270400|Orphanet:818 https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome owl:Class MONDO:0011869 biolink:NamedThing epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters. tmpte7i6ely_mondo_relaxed.owl EBSS|epidermolysis bullosa simplex superficialis UMLS:C1843477|MESH:C564368|OMIM:607600|Orphanet:89839|ICD10:Q81.0 owl:Class MONDO:0015550 biolink:NamedThing suprabasal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes. tmpte7i6ely_mondo_relaxed.owl epidermis suprabasal layer epidermolysis bullosa simplex|epidermolysis bullosa simplex of epidermis suprabasal layer UMLS:C4511300|ICD10:Q81.0|SCTID:724840004|Orphanet:158661 owl:Class MONDO:0001748 biolink:NamedThing maxillary sinus carcinoma A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. tmpte7i6ely_mondo_relaxed.owl malignant maxillary sinus tumor|malignant neoplasm of maxillary sinus|carcinoma of maxillary sinus|maxillary sinus carcinoma|malignant maxillary sinus neoplasm|malignant neoplasm of antrum|malignant tumor of the maxillary sinus|malignant neoplasm of the maxillary sinus|malignant tumor of maxillary sinus|maxillary sinus cancer|cancer of maxillary sinus ICD9:160.2|ICD10:C31.0|NCIT:C3540|SCTID:363425008|DOID:1357|NCIT:C9332 owl:Class MONDO:0000380 biolink:NamedThing paranasal sinus carcinoma A malignant epithelial neoplasm arising in the paranasal sinus. tmpte7i6ely_mondo_relaxed.owl malignant paranasal sinus neoplasm|epidermoid carcinoma of the paranasal sinus|adenoid cystic carcinoma of accessory sinus|paranasal sinus adenoid cystic carcinoma|carcinoma of the accessory sinus|paranasal sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of accessory sinus|squamous cell carcinoma of paranasal sinus|carcinoma of the paranasal sinus|malignant neoplasm of paranasal sinus|paranasal sinus cancer|adenoid cystic carcinoma of paranasal sinus|cancer of paranasal sinus|carcinoma of accessory sinus|paranasal sinus squamous cell carcinoma|paranasal sinus adenocarcinoma|paranasal sinus carcinoma|carcinoma of paranasal sinus|accessory sinus cancer|accessory sinus carcinoma UMLS:C0854995|NCIT:C6014|NCIT:C8193|UMLS:C0280334|DOID:0050619 owl:Class MONDO:0024666 biolink:NamedThing benign epithelial skin neoplasm A form of epithelial skin neoplasm without malignant characteristics. tmpte7i6ely_mondo_relaxed.owl benign epithelial skin tumor|epithelial skin neoplasm, benign|benign skin epithelium neoplasm|benign skin epithelium tumor|benign epithelial skin neoplasm NCIT:C7341|UMLS:C0345981 owl:Class GO:0045657 biolink:NamedThing positive regulation of monocyte differentiation Any process that activates or increases the frequency, rate or extent of monocyte differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of monocyte differentiation|activation of monocyte differentiation|up regulation of monocyte differentiation|upregulation of monocyte differentiation|up-regulation of monocyte differentiation owl:Class UBERON:0002522 biolink:NamedThing tunica media tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004797 biolink:NamedThing blood vessel layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024354 biolink:NamedThing cytomegalovirus pneumonia Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating. tmpte7i6ely_mondo_relaxed.owl Cytomegaloviral pneumonia|Cytomegalovirus pneumonia|Cytomegalovirus caused pneumonia|cytomegalovirus pneumonia|CMV pneumonia NCIT:C35360|SCTID:7678002|UMLS:C0276253 owl:Class UBERON:0002339 biolink:NamedThing epithelium of lobar bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17295 biolink:NamedThing L-phenylalanine The L-enantiomer of phenylalanine. tmpte7i6ely_mondo_relaxed.owl Phe|(S)-alpha-Amino-beta-phenylpropionic acid|F|(S)-2-Amino-3-phenylpropionic acid|PHENYLALANINE|L-phenylalanine|(2S)-2-amino-3-phenylpropanoic acid|beta-phenyl-L-alanine|L-Phenylalanine|3-phenyl-L-alanine owl:Class CHEBI:73690 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class. tmpte7i6ely_mondo_relaxed.owl erythrose 4-phosphate and phosphoenolpyruvate family amino acid|erythrose 4-phosphate/phosphoenolpyruvate family amino acids|erythrose 4-phosphate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acids|phosphoenolpyruvate family amino acid|phosphoenolpyruvate family amino acids|erythrose 4-phosphate family amino acid owl:Class HP:0000790 biolink:NamedThing Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). tmpte7i6ely_mondo_relaxed.owl Blood in urine|High urine occult blood SNOMEDCT_US:34436003|SNOMEDCT_US:53298000|UMLS:C0018965|MSH:D006417 human_phenotype owl:Class HP:0012211 biolink:NamedThing Abnormal renal physiology An abnormal functionality of the kidney. tmpte7i6ely_mondo_relaxed.owl Abnormal renal function|Renal functional abnormality|Kidney function issue|Abnormality of renal physiology|Abnormal kidney function UMLS:C0151746|SNOMEDCT_US:39539005 peter 2013-03-14T07:43:34Z HP:0005566|HP:0008646|HP:0000087|HP:0000082 human_phenotype owl:Class MONDO:0008311 biolink:NamedThing progeria-short stature-pigmented nevi syndrome Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. tmpte7i6ely_mondo_relaxed.owl progeroid short stature with pigmented nevi|Mulvihill-Smith syndrome Orphanet:2959|OMIM:176690|UMLS:C1261128|MESH:C536422|ICD9:759.89|SCTID:399947002|GARD:0004494 owl:Class MONDO:0015333 biolink:NamedThing progeroid syndrome A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. tmpte7i6ely_mondo_relaxed.owl Orphanet:139033|UMLS:CN199363 owl:Class MONDO:0001660 biolink:NamedThing proliferative diabetic retinopathy Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. tmpte7i6ely_mondo_relaxed.owl SCTID:59276001|UMLS:C0154830|NCIT:C84457|DOID:13207|ICD9:362.02 owl:Class MONDO:0005266 biolink:NamedThing diabetic retinopathy A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. tmpte7i6ely_mondo_relaxed.owl retinal abnormality - diabetes-related SCTID:4855003|DOID:8947|ICD9:362.0|EFO:0003770|OMIM:612635|OMIM:603933|MESH:D003930|OMIM:612633|UMLS:C0011884|ICD10:H36.0|OMIM:612623|NCIT:C34538 owl:Class MONDO:0002247 biolink:NamedThing factor X deficiency A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. tmpte7i6ely_mondo_relaxed.owl MESH:D005171|NCIT:C131632|SCTID:76642003 owl:Class MONDO:0020648 biolink:NamedThing rubella encephalitis tmpte7i6ely_mondo_relaxed.owl SCTID:192689006 owl:Class MONDO:0004376 biolink:NamedThing infiltrating nipple syringomatous adenoma An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported. tmpte7i6ely_mondo_relaxed.owl nipple syringomatous adenoma|infiltrating nipple syringomatous adenoma NCIT:C40363|DOID:7839|UMLS:C1518329 owl:Class MONDO:0002482 biolink:NamedThing nipple neoplasm A benign or malignant neoplasm that arises in the area of the nipple. tmpte7i6ely_mondo_relaxed.owl neoplasm of nipple|nipple tumor|tumor of nipple|nipple neoplasm|tumor of the nipple|neoplasm of the nipple|nipple neoplasm (disease) DOID:3003|UMLS:C1112166|NCIT:C5212 owl:Class MONDO:0009604 biolink:NamedThing methemoglobin reductase deficiency tmpte7i6ely_mondo_relaxed.owl TPNH-methemoglobin reductase deficiency|NADPH-dependent methemoglobin reductase deficiency|methemoglobin reductase deficiency Orphanet:621|OMIM:250700|SCTID:234397008|UMLS:C0472786|MESH:C563171 owl:Class MONDO:0018963 biolink:NamedThing hereditary methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. tmpte7i6ely_mondo_relaxed.owl autosomal recessive methemoglobinemia|congenital methemoglobinemia|hereditary methemoglobinemia SCTID:267550008|ICD10:D74.0|OMIM:250700|Orphanet:621|UMLS:C0272087|OMIM:250800|NCIT:C98898|OMIM:250790|MESH:C580280|GARD:0002659 owl:Class MONDO:0056814 biolink:NamedThing hormone-resistant prostate carcinoma Prostate carcinoma that does not respond to hormone therapy. tmpte7i6ely_mondo_relaxed.owl hormone-resistant prostate cancer|hormone-resistant prostate carcinoma NCIT:C114933 owl:Class MONDO:0005159 biolink:NamedThing prostate carcinoma A carcinoma that arises from epithelial cells of the prostate gland. tmpte7i6ely_mondo_relaxed.owl cancer of the prostate|cancer of prostate|prostate carcinoma|carcinoma of the prostate|carcinoma of prostate|prostate cancer|carcinoma of prostate gland|prostate gland carcinoma|prostate cancer, NOS EFO:0001663|KEGG:05215|DOID:10286|NCIT:C4863|UMLS:C0600139 owl:Class MONDO:0012700 biolink:NamedThing renal tubular acidosis, distal, 4, with hemolytic anemia Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl dRTA with anemia|RTA, distal, autosomal recessive, with hemolytic Anemia|distal renal tubular acidosis with anemia|renal tubular acidosis, distal, with normal Red cell morphology|renal tubular acidosis, distal, with hemolytic anemia UMLS:C1969038|Orphanet:18|OMIM:611590|ICD10:N25.8|Orphanet:93610 owl:Class MONDO:0002483 biolink:NamedThing breast myoepithelial tumor A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma. tmpte7i6ely_mondo_relaxed.owl breast myoepithelial tumor|breast myoepithelial neoplasm DOID:3004|NCIT:C40389|UMLS:C1511319 owl:Class MONDO:0044699 biolink:NamedThing SIN3A-related intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:500163 owl:Class MONDO:0003834 biolink:NamedThing gastric cardia carcinoma A carcinoma that arises from epithelial cells of the cardia of stomach. tmpte7i6ely_mondo_relaxed.owl cancer of gastric cardia|cardia of stomach carcinoma|gastric cardia cancer|cancer of the gastric cardia|carcinoma of the gastric cardia|carcinoma of gastric cardia|carcinoma of the cardia of the stomach|carcinoma of cardia of stomach|gastric cardia (stomach) cancer EFO:1001252|DOID:6270|UMLS:C1333763|NCIT:C6794 owl:Class MONDO:0017116 biolink:NamedThing congenital communicating hydrocephalus tmpte7i6ely_mondo_relaxed.owl congenital non-obstructive hydrocephalus ICD10:Q03.8|Orphanet:269505 owl:Class GO:0006873 biolink:NamedThing cellular ion homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050801 biolink:NamedThing ion homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl electrolyte homeostasis|regulation of ion homeostasis|negative regulation of crystal formation owl:Class MONDO:0017321 biolink:NamedThing pili torti-onychodysplasia syndrome Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl UMLS:C2931483|Orphanet:2890 owl:Class HGNC:5136 biolink:NamedThing HOXD13 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005194 biolink:NamedThing thoracic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003834 biolink:NamedThing thoracic segment blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005874 biolink:NamedThing neuroschistosomiasis Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) tmpte7i6ely_mondo_relaxed.owl EFO:0007394|MESH:D020818|DOID:13722|UMLS:C0752191 owl:Class MONDO:0024619 biolink:NamedThing central nervous system infectious disorder An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. tmpte7i6ely_mondo_relaxed.owl central nervous system infectious disorder|central nervous system infectious disease|central nervous system infection|infectious disease of central nervous system|infections, central nervous system SCTID:128117002|NCIT:C27582|EFO:1001456|UMLS:C0007684|ICD9:349.89|MESH:D002494 owl:Class CHEBI:37578 biolink:NamedThing halide Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. tmpte7i6ely_mondo_relaxed.owl halides owl:Class CHEBI:37577 biolink:NamedThing heteroatomic molecular entity A molecular entity consisting of two or more chemical elements. tmpte7i6ely_mondo_relaxed.owl heteroatomic molecular entities|chemical compound owl:Class MONDO:0020065 biolink:NamedThing combined dystonia A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism). tmpte7i6ely_mondo_relaxed.owl dystonia-plus syndrome Orphanet:98203|UMLS:CN206969|ICD10:G24.1 owl:Class MONDO:0007836 biolink:NamedThing IVIC syndrome IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. tmpte7i6ely_mondo_relaxed.owl oculootoradial syndrome|OORS|IVIC syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|oculo-oto-radial syndrome DOID:0111381|OMIM:147750|SCTID:722019000|UMLS:C1327918|MESH:C535544|GARD:0000269|ICD10:Q71.8|Orphanet:2307 https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome owl:Class HGNC:2084 biolink:NamedThing CLPP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010753 biolink:NamedThing cardiac valvular dysplasia, X-linked tmpte7i6ely_mondo_relaxed.owl congenital valvular dysplasia|valvular heart disease, congenital|myxomatous valvular dystrophy, X-linked|cardiac valvular dysplasia, X-linked|CVD1|XMVD GARD:0001096|SCTID:718128009|Orphanet:555877|MESH:C535576|OMIM:314400|DOID:0111765|ICD10:Q24.8|Orphanet:1864 https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked owl:Class MONDO:0017131 biolink:NamedThing genetic cardiac anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:271853 owl:Class OBO:OBA_0100003 biolink:NamedThing anatomical entity attribute The quality of a anatomical entity. tmpte7i6ely_mondo_relaxed.owl quality of anatomical entity owl:Class PATO:0000001 biolink:NamedThing quality A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities tmpte7i6ely_mondo_relaxed.owl quality (PATO) owl:Class MONDO:0020289 biolink:NamedThing congenital tricuspid malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98721|ICD10:Q22.4|HP:0001702|ICD10:Q22.5|ICD10:Q22.9|ICD10:Q22.8 owl:Class MONDO:0007794 biolink:NamedThing hypogonadotropic hypogonadism 7 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. tmpte7i6ely_mondo_relaxed.owl hypogonadism, isolated hypogonadotropic|hypogonadotropic hypogonadism 7 with or without anosmia|idiopathic hypogonadotropic hypogonadism|HH7 ICD9:253.4|SCTID:123953004|OMIM:146110|ICD10:E23.0|DOID:0090078 owl:Class MONDO:0014103 biolink:NamedThing hypogonadotropic hypogonadism 18 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism 18 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in IL17RD|HH18|IL17RD hypogonadotropic hypogonadism UMLS:C3808975|DOID:0090076|OMIM:615267|Orphanet:478|ICD10:E23.0 owl:Class GO:0016042 biolink:NamedThing lipid catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpte7i6ely_mondo_relaxed.owl lipid breakdown|multicellular organism lipid catabolic process|lipid degradation|lipid catabolism|multicellular organismal lipid catabolic process|lipolysis owl:Class GO:1901575 biolink:NamedThing organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. tmpte7i6ely_mondo_relaxed.owl organic molecular entity breakdown|organic molecular entity catabolic process|organic molecular entity degradation|organic substance breakdown|organic substance catabolism|organic substance degradation|organic molecular entity catabolism owl:Class MONDO:0008252 biolink:NamedThing platelet adenylate cyclase activity tmpte7i6ely_mondo_relaxed.owl platelet adenylate cyclase activity OMIM:173395 owl:Class HGNC:12601 biolink:NamedThing USH2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006780 biolink:NamedThing heartwater disease A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium. tmpte7i6ely_mondo_relaxed.owl disease, heartwater UMLS:C0018835|MESH:D006357|EFO:1000960 owl:Class MONDO:0016003 biolink:NamedThing ehrlichiosis Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). tmpte7i6ely_mondo_relaxed.owl human ehrlichiosis GARD:0002092|SCTID:240626005|ICD10:A77.4|ICD10:A77.40|ICD9:082.4|ICD9:082.40|ICD10:A48.8|DOID:10242|MESH:D016873|Orphanet:1902|UMLS:C0085399 owl:Class GO:0010701 biolink:NamedThing positive regulation of norepinephrine secretion Any process that increases the frequency, rate or extent of the regulated release of norepinephrine. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13429 biolink:NamedThing RLIM tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902645 biolink:NamedThing tertiary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of tertiary alcohol. tmpte7i6ely_mondo_relaxed.owl tertiary alcohol formation|tertiary alcohol anabolism|tertiary alcohol synthesis|tertiary alcohol biosynthesis owl:Class GO:1902644 biolink:NamedThing tertiary alcohol metabolic process The chemical reactions and pathways involving tertiary alcohol. tmpte7i6ely_mondo_relaxed.owl tertiary alcohol metabolism owl:Class MONDO:0029135 biolink:NamedThing muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 tmpte7i6ely_mondo_relaxed.owl MDDGC8|muscular dystrophy, limb-girdle, autosomal recessive 24|LGMD-POMGNT2 related myopathy|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8|Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related OMIM:618135 owl:Class NCBITaxon:3760 biolink:NamedThing Prunus persica tmpte7i6ely_mondo_relaxed.owl Persica vulgaris|peach|Amygdalus persica GC_ID:1 NCBITaxon:203801 ncbi_taxonomy owl:Class NCBITaxon:3754 biolink:NamedThing Prunus tmpte7i6ely_mondo_relaxed.owl Prunus subg. Amygdalus|Prunus subg. Cerasus|Prunus subg. Armeniaca PMID:24631854|GC_ID:1 NCBITaxon:140650|NCBITaxon:203800 ncbi_taxonomy owl:Class HGNC:9204 biolink:NamedThing PON1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051155 biolink:NamedThing positive regulation of striated muscle cell differentiation Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation|upregulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation owl:Class MONDO:0018479 biolink:NamedThing congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. tmpte7i6ely_mondo_relaxed.owl congenital lipoid adrenal hyperplasia|adrenal hyperplasia, congenital|lipoid CAH|adrenal hyperplasia|adrenogenital disorder|adrenogenital syndrome|congenital adrenal gland hyperplasia|CAH UMLS:C0701163|OMIM:202110|OMIM:613571|ICD10:E25.0|GARD:0001467|ICD10:E25|Orphanet:418|ICD9:255.2|OMIM:202010|OMIM:201810|UMLS:C0001627|SCTID:237751000|MESH:D000312|OMIM:201710|DOID:0050811|ICD10:E25.9|NCIT:C34360|OMIM:201910|MedDRA:10010323 owl:Class MONDO:0005523 biolink:NamedThing steroid inherited metabolic disorder Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. tmpte7i6ely_mondo_relaxed.owl EFO:0005590|MESH:D043202|DOID:1701|UMLS:C1257809 owl:Class MONDO:0002274 biolink:NamedThing monoclonal paraproteinemia disease A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. tmpte7i6ely_mondo_relaxed.owl monoclonal paraproteinaemia|monoclonal paraproteinemia|paraproteinaemia HP:0031047|SCTID:267440005|DOID:2346|NCIT:C35878|UMLS:C0026471|ICD9:273.1 owl:Class MONDO:0004960 biolink:NamedThing monoclonal gammopathy A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine. tmpte7i6ely_mondo_relaxed.owl SCTID:109983007|ICD10:D47.2|EFO:0000203|MESH:D010265|MESH:D008998|SCTID:277577000|NCIT:C35548|DOID:7442|SCTID:58648008 owl:Class CL:0000451 biolink:NamedThing dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). tmpte7i6ely_mondo_relaxed.owl interdigitating cell|veiled cell CALOHA:TS-0194|FMA:83036|BTO:0002042 cell owl:Class CL:0000145 biolink:NamedThing professional antigen presenting cell A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. tmpte7i6ely_mondo_relaxed.owl APC Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells. cell owl:Class GO:0050982 biolink:NamedThing detection of mechanical stimulus The series of events by which a mechanical stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009581 biolink:NamedThing detection of external stimulus The series of events in which an external stimulus is received by a cell and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl perception of external stimulus owl:Class MONDO:0007186 biolink:NamedThing gastroesophageal reflux disease A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. tmpte7i6ely_mondo_relaxed.owl GERD - gastro-esophageal reflux disease|GERD|Gastresophageal reflux|gastroesophageal reflux, pediatric|gastro-esophageal reflux|gastroesophageal reflux|acid reflux|ger|gastroesophageal reflux disease NCIT:C26781|EFO:0003948|NCIT:C92560|ICD10:K21|ICD9:530.81|UMLS:C0017168|ICD10:K21.9|DOID:8534|OMIM:109350|MESH:D005764|SCTID:235595009 owl:Class MONDO:0003749 biolink:NamedThing esophageal disorder A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. tmpte7i6ely_mondo_relaxed.owl disease of esophagus|esophageal ulcer|disorder of esophagus|disease or disorder of esophagus|esophagus disease|esophageal disorder|esophagus disease or disorder ICD10:K22.9|SCTID:37657006|ICD9:530.2|UMLS:C0014852|DOID:6050|MESH:D004935|ICD9:530.9|SCTID:30811009|ICD9:530.20|NCIT:C3027|ICD9:530 owl:Class GO:0045739 biolink:NamedThing positive regulation of DNA repair Any process that activates or increases the frequency, rate or extent of DNA repair. tmpte7i6ely_mondo_relaxed.owl up regulation of DNA repair|up-regulation of DNA repair|upregulation of DNA repair|activation of DNA repair|stimulation of DNA repair owl:Class GO:0051054 biolink:NamedThing positive regulation of DNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpte7i6ely_mondo_relaxed.owl up-regulation of DNA metabolic process|stimulation of DNA metabolic process|up regulation of DNA metabolic process|activation of DNA metabolic process|upregulation of DNA metabolic process|positive regulation of DNA metabolism owl:Class MONDO:0013059 biolink:NamedThing Aicardi-Goutieres syndrome 5 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene. tmpte7i6ely_mondo_relaxed.owl SAMHD1 Aicardi-Goutieres syndrome|SAMHD1-related Aicardi-Goutieres syndrome|AGS5|Aicardi-Goutieres syndrome type 5|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|Aicardi-Goutieres syndrome 5 GARD:0010151|MESH:C535608|OMIM:612952|Orphanet:51|NCIT:C168564 owl:Class MONDO:0018866 biolink:NamedThing Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. tmpte7i6ely_mondo_relaxed.owl pseudotoxoplasmosis syndrome|AGS|Aicardi Goutieres syndrome|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|Cree encephalitis|encephalopathy with basal ganglia calcification|Aicardi-Goutières syndrome GARD:0000575|OMIM:225750|MESH:C535607|OMIM:610329|ICD9:333.0|OMIM:612952|Orphanet:51|SCTID:230312006|OMIMPS:225750|DOID:0050629|OMIM:615010|OMIM:615846|OMIM:114100|OMIM:610333|OMIM:610181|ICD10:G31.8 owl:Class MONDO:0016959 biolink:NamedThing partial duplication of the long arm of chromosome 8 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 8q|partial trisomy of the long arm of chromosome 8|partial duplication of the long arm of chromosome type 8|partial duplication of chromosome 8q Orphanet:262896 owl:Class MONDO:0011700 biolink:NamedThing inflammatory bowel disease 6 An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13. tmpte7i6ely_mondo_relaxed.owl IBD6|inflammatory bowel disease type 6|inflammatory bowel disease 6 MESH:C564681|UMLS:C1847692|DOID:0110907|OMIM:606674 owl:Class HGNC:29160 biolink:NamedThing FASTKD2 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000304 biolink:NamedThing high pressure environment A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000997 biolink:NamedThing environmental system determined by a quality An environmental system which is determined by materials bearing roughly homogeneous qualities. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24316 biolink:NamedThing TACO1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007622 biolink:NamedThing rhythmic behavior The specific behavior of an organism that recur with measured regularity. tmpte7i6ely_mondo_relaxed.owl rhythmic behaviour|rhythmic behavioral response to stimulus|rhythmic behavioural response to stimulus owl:Class GO:0007610 biolink:NamedThing behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. tmpte7i6ely_mondo_relaxed.owl single-organism behavior|behaviour|behavioral response to stimulus|behavioural response to stimulus owl:Class GO:0050680 biolink:NamedThing negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. tmpte7i6ely_mondo_relaxed.owl inhibition of epithelial cell proliferation|downregulation of epithelial cell proliferation|down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation owl:Class GO:0050678 biolink:NamedThing regulation of epithelial cell proliferation Any process that modulates the frequency, rate or extent of epithelial cell proliferation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902652 biolink:NamedThing secondary alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. tmpte7i6ely_mondo_relaxed.owl secondary alcohol metabolism owl:Class GO:0006066 biolink:NamedThing alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpte7i6ely_mondo_relaxed.owl alcohol metabolism owl:Class HP:0003473 biolink:NamedThing Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpte7i6ely_mondo_relaxed.owl Generalised muscle weakness due to defect at the neuromuscular junction|Myasthenic weakness|Generalized muscle weakness due to defect at the neuromuscular junction|Fatigable weakness of limb muscles|Myasthenia|Proximal muscle weakness due to defect at the neuromuscular junction UMLS:C0947912 This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. HP:0100794|HP:0003399|HP:0003428 human_phenotype owl:Class MONDO:0013540 biolink:NamedThing deafness-lymphedema-leukemia syndrome Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. tmpte7i6ely_mondo_relaxed.owl lymphedema, primary, with myelodysplasia|deafness-lymphedema-leukemia syndrome|Emberger syndrome SCTID:700057001|ICD9:757.0|OMIM:614038|Orphanet:3226|UMLS:C3279664|ICD10:D46.7|GARD:0013030 https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome owl:Class MONDO:0020704 biolink:NamedThing inherited rippling muscle disease Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. tmpte7i6ely_mondo_relaxed.owl rippling muscle disease|RMD MedDRA:10069417|ICD10:G71.8|Orphanet:97238|GARD:0009164|OMIM:606072|OMIM:600332 owl:Class MONDO:0011634 biolink:NamedThing rippling muscle disease A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch tmpte7i6ely_mondo_relaxed.owl MedDRA:10069417|ICD10:G71.8|SCTID:709281006|ICD9:359.29 https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease owl:Class UBERON:0001264 biolink:NamedThing pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002075 biolink:NamedThing viscus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020053 biolink:NamedThing total autosomal monosomy tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:98141|ICD10:Q93.1|ICD10:Q93.0 Reason: grouping class. Term to consider: MONDO:0020639 MONDO:0020639 owl:Class MONDO:0015153 biolink:NamedThing autosomal monosomy tmpte7i6ely_mondo_relaxed.owl autosomal deletion 2022-04-01 ICD10:Q93.6|ICD10:Q93.9|ICD10:Q93.1|ICD10:Q93.2|ICD10:Q93.8|ICD10:Q93.5|ICD10:Q93.0|Orphanet:102020|ICD10:Q93.7|ICD10:Q93.4|ICD10:Q93.3 Reason: grouping class. Term to consider: none owl:Class CHEBI:17578 biolink:NamedThing toluene The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent. tmpte7i6ely_mondo_relaxed.owl toluene|Toluene|methylbenzene|Toluen|phenylmethane|TOLUENE|Toluol owl:Class CHEBI:134179 biolink:NamedThing volatile organic compound Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa. tmpte7i6ely_mondo_relaxed.owl VOCs|volatile organic compounds|VOC owl:Class MONDO:0007211 biolink:NamedThing brachydactyly-arterial hypertension syndrome Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. tmpte7i6ely_mondo_relaxed.owl brachydactyly type E, with short stature and hypertension|hypertension and brachydactyly syndrome|HTNB|Bilginturan syndrome|brachydactyly type E with short stature and hypertension|Bilginturan brachydactyly|brachydactyly with hypertension|brachydactyly, type E, with short stature and hypertension Orphanet:1276|MESH:C537095|ICD10:Q73.8|GARD:0000967|UMLS:C1862170|OMIM:112410|SCTID:720568003|DOID:0111247 owl:Class MONDO:0019430 biolink:NamedThing X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. tmpte7i6ely_mondo_relaxed.owl ICD10:G31.8|UMLS:CN227633|Orphanet:85338 owl:Class UBERON:0007831 biolink:NamedThing pectoral girdle skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006706 biolink:NamedThing Bifidobacteriales infectious disease Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. tmpte7i6ely_mondo_relaxed.owl Bifidobacteriales infection|infections, Bifidobacteriales|Bifidobacteriales disease or disorder|infection, Bifidobacteriales|Bifidobacteriales caused disease or disorder MESH:D039941|UMLS:C1136339|EFO:1000873 owl:Class MONDO:0005113 biolink:NamedThing bacterial infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. tmpte7i6ely_mondo_relaxed.owl bacterial disorder|Bacteria infectious disease|infection, bacterial|bacterial infectious disease|Bacteria caused disease or disorder|bacterial infection|bacterial disease|Bacteria disease or disorder|infections, bacterial ICD10:A49.9|UMLS:C0004623|SCTID:87628006|ICD9:040.89|NCIT:C2890|MESH:D016905|DOID:104|ICD9:041.89|ICD10:A49|MESH:D001424|MESH:D016908|EFO:0000771|ICD9:041.9 owl:Class MONDO:0019854 biolink:NamedThing thyroid ectopia Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl ICD10:E03.1|Orphanet:95712|OMIM:225250|OMIM:218700 owl:Class MONDO:0016409 biolink:NamedThing primary congenital hypothyroidism Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl ICD10:E03.0|ICD10:E03.1|Orphanet:226295 owl:Class GO:0071829 biolink:NamedThing plasma lipoprotein particle disassembly The disaggregation of a plasma lipoprotein particle into its constituent components. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032987 biolink:NamedThing protein-lipid complex disassembly The disaggregation of a protein-lipid complex into its constituent components. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004317 biolink:NamedThing multiple spinal canal and spinal cord meningioma Multiple meningiomas that arises from the spinal meninges. tmpte7i6ely_mondo_relaxed.owl multiple Meningiomas of spinal canal and spinal cord|multiple meningiomas of the spinal canal and spinal cord|multiple intraspinal Meningiomas|multiple spinal canal and spinal cord Meningiomas UMLS:C1334825|DOID:7646|NCIT:C5275 owl:Class MONDO:0001279 biolink:NamedThing intraspinal meningioma A meningioma that arises from the spinal meninges. tmpte7i6ely_mondo_relaxed.owl meningioma of the spinal canal and spinal cord|meningioma of spinal canal and spinal cord|intraspinal meningioma|spinal canal and spinal cord meningioma DOID:1140|NCIT:C5134|UMLS:C1334264 owl:Class UBERON:0001957 biolink:NamedThing submucosa of bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004777 biolink:NamedThing respiratory system submucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005999 biolink:NamedThing tuberculous empyema An empyema resulting from infection by Mycobacterium tuberculosis. tmpte7i6ely_mondo_relaxed.owl tuberculous empyema (& pleural) EFO:0007528|NCIT:C34575|DOID:14305|MESH:D004654|UMLS:C0014014|SCTID:14527007 owl:Class MONDO:0005242 biolink:NamedThing empyema An accumulation of pus in a body cavity, usually the pleural space. tmpte7i6ely_mondo_relaxed.owl collection of pus EFO:0003097|SCTID:312682007|NCIT:C34572|ICD9:510|MESH:D004653 owl:Class MONDO:0002447 biolink:NamedThing endometrial carcinoma A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. tmpte7i6ely_mondo_relaxed.owl endometrial carcinoma (disease)|endometrium carcinoma|carcinoma of the endometrium|carcinoma, endometrial, malignant|carcinoma of endometrium|endometrial carcinoma|endometrial cancer endometrial carcinoma (disease) UMLS:C0476089|ONCOTREE:UCEC|NCIT:C7558|DOID:2871|SCTID:254878006|HP:0012114 owl:Class MONDO:0011962 biolink:NamedThing endometrial cancer Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity). tmpte7i6ely_mondo_relaxed.owl endometrial Ca|malignant endometrial neoplasm|cancer of endometrium|malignant endometrium neoplasm|endometrial neoplasm|endometrium cancer|neoplasm of endometrium|tumor of endometrium|endometrial cancer|malignant neoplasm of endometrium|primary malignant neoplasm of endometrium UMLS:C0476089|GARD:0011981|NCIT:C3012|EFO:0004230|KEGG:05213|DOID:1380|NCIT:C27815|ICD10:C54.1|SCTID:123844007|OMIM:608089 owl:Class GO:0051248 biolink:NamedThing negative regulation of protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. tmpte7i6ely_mondo_relaxed.owl down regulation of protein metabolic process|down-regulation of protein metabolic process|negative regulation of protein metabolism|inhibition of protein metabolic process|downregulation of protein metabolic process owl:Class GO:0010605 biolink:NamedThing negative regulation of macromolecule metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001951 biolink:NamedThing epithelium of nasopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1375 biolink:NamedThing CA4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033668 biolink:NamedThing hearing loss, autosomal dominant 79 tmpte7i6ely_mondo_relaxed.owl DFNA79|deafness, autosomal dominant 79 OMIM:619086 owl:Class CHEBI:46723 biolink:NamedThing phosphate mineral tmpte7i6ely_mondo_relaxed.owl phosphate minerals owl:Class CHEBI:46662 biolink:NamedThing mineral In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals'). tmpte7i6ely_mondo_relaxed.owl Minerale|minerales|minerals|mineraux|mineral owl:Class HGNC:23658 biolink:NamedThing DELEC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003112 biolink:NamedThing malignant gastric germ cell tumor A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma. tmpte7i6ely_mondo_relaxed.owl malignant germ cell tumor of the stomach|malignant germ cell tumor of stomach|malignant germ cell neoplasm of the stomach|malignant germ cell neoplasm of stomach|malignant gastric germ cell tumor|malignant gastric germ cell neoplasm|germ cell tumor of the stomach NCIT:C5486|UMLS:C1333769|DOID:4716|UMLS:C1334584 owl:Class MONDO:0006290 biolink:NamedThing malignant germ cell tumor A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of germ cell|malignant germ cell tumor|malignant neoplasm of the germ cell|germ cell cancer|malignant tumor of the germ cell|cancer of germ cell|germ cell tumor, malignant|malignant tumor of germ cell|malignant germ cell neoplasm UMLS:C4048549|SCTID:145831000119103|NCIT:C4925|EFO:1000352|GARD:0003360 owl:Class MONDO:0016169 biolink:NamedThing chronic acquired demyelinating polyneuropathy Chronic form of acquired peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl chronic acquired peripheral neuropathy|acquired peripheral neuropathy, chronic|CADP Orphanet:208974 owl:Class MONDO:0015923 biolink:NamedThing acquired peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired peripheral neuropathy Orphanet:182086 owl:Class MONDO:0032917 biolink:NamedThing hearing loss, autosomal dominant 76 tmpte7i6ely_mondo_relaxed.owl DFNA76|DEAFNESS, AUTOSOMAL DOMINANT 76|deafness, autosomal dominant 76 OMIM:618787 owl:Class UBERON:0011878 biolink:NamedThing muscle layer of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018261 biolink:NamedThing muscular coat of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002264 biolink:NamedThing olfactory bulb tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031128 biolink:NamedThing developmental induction A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032502 biolink:NamedThing developmental process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. tmpte7i6ely_mondo_relaxed.owl single-organism developmental process|development owl:Class MONDO:0008809 biolink:NamedThing polyneuropathy-hand defect syndrome Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|Hamanishi Ueba Tsuji syndrome|polyneuropathy, hand defect|digital extensor muscle aplasia-polyneuropathy|aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy MESH:C535624|UMLS:C2930955|Orphanet:2926|ICD10:Q87.8|OMIM:207740|GARD:0002589 https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome owl:Class MONDO:0015364 biolink:NamedThing hereditary sensory and autonomic neuropathy An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl indifference to pain, Congenital, autosomal recessive|congenital insensitivity to pain|HSAN|hereditary sensory neuropathy|hereditary sensory autonomic neuropathy|CIP|hereditary sensory and autonomic neuropathy|hereditary sensory peripheral neuropathy|congenital pain insensitivity DOID:0050548|MESH:D009477|OMIM:201300|OMIM:615548|OMIM:608654|SCTID:11442006|OMIM:614213|OMIMPS:162400|NCIT:C125386|ICD10:G60.8|OMIM:256800|GARD:0012688|OMIM:608088|OMIM:613640|OMIM:310470|OMIM:162400|OMIM:256860|OMIM:614116|UMLS:C0027889|OMIM:613708|Orphanet:140471|OMIM:614653|ICD9:356.2|OMIM:613115|OMIM:615632|OMIM:616488 familial dysautonomia, type II https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 owl:Class MONDO:0044745 biolink:NamedThing nervous system injury Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. tmpte7i6ely_mondo_relaxed.owl nervous system injury|Injuries, nervous system|injury, nervous system|nervous system Traumas|craniocervical Injuries|injury, craniocervical|nervous system trauma|nervous system Injuries|craniocervical injury|injury of nervous system|Injuries, craniocervical MESH:D020196|SCTID:128239009 owl:Class MONDO:0021178 biolink:NamedThing injury Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. tmpte7i6ely_mondo_relaxed.owl trauma|injury|wound|traumatic injury MESH:D014947|EFO:0000546|NCIT:C3671|ICD10:S00.T98 owl:Class MONDO:0007829 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 1 tmpte7i6ely_mondo_relaxed.owl cholestasis, intrahepatic, of pregnancy, type 1|cholestasis, intrahepatic, of pregnancy, 1|cholestasis, pregnancy-related, 1|ICP1 Orphanet:69665|OMIM:147480|UMLS:C3549845|DOID:0070228 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0008436 biolink:NamedThing Sneddon syndrome Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. tmpte7i6ely_mondo_relaxed.owl livedo reticularis and cerebrovascular accidents|idiopathic livedo reticularis with systemic involvement|livedo racemosa-cerebrovascular accident syndrome|livedo racemosa and cerebrovascular accidents|Sneddon's syndrome|Sneddon syndrome|Ehrmann-Sneddon syndrome|cerebro-vascular lesions and livedo reticularis|livedo reticularis-cerebrovascular accident syndrome ICD10:I77.8|DOID:13096|Orphanet:820|MedDRA:10053841|EFO:1001186|OMIM:182410|SCTID:238776001|MESH:D018860|UMLS:C0282492|GARD:0007664 https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome owl:Class NCBITaxon:2842407 biolink:NamedThing Alpharhabdovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11270 biolink:NamedThing Rhabdoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:16186241 ncbi_taxonomy owl:Class MONDO:0003184 biolink:NamedThing trachea carcinoma A carcinoma that arises from epithelial cells of the trachea. tmpte7i6ely_mondo_relaxed.owl trachea cancer|trachea carcinoma|tracheal carcinoma|carcinoma of the trachea|carcinoma of trachea|cancer of the trachea|cancer of trachea EFO:1000599|DOID:4876|UMLS:C1744708|NCIT:C9347 owl:Class MONDO:0013567 biolink:NamedThing atrial septal defect 3 Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene. tmpte7i6ely_mondo_relaxed.owl atrial heart septal defect type 3|atrial septal defect 3|atrial septal defect type 3|atrial heart septal defect caused by mutation in MYH6|MYH6 atrial heart septal defect|ASD3 OMIM:614089|MESH:C563540|ICD10:Q21.1|Orphanet:1478|UMLS:C3279790|DOID:0110108 owl:Class MONDO:0005625 biolink:NamedThing cerebral malaria A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. tmpte7i6ely_mondo_relaxed.owl malarial encephalitis Wikipedia:Malaria|DOID:14069|SCTID:53622003|UMLS:C0024534|EFO:0006857|ICD9:084.9|NCIT:C128373|ICD10:B50.0|MESH:D016779 owl:Class UBERON:0008775 biolink:NamedThing proximal epiphysis of fibula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004380 biolink:NamedThing proximal epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008555 biolink:NamedThing thrombocytopenia 2 An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability. tmpte7i6ely_mondo_relaxed.owl thrombocytopenia 2|THC2|thrombocytopenia autosomal dominant 2|thrombocytopenia, autosomal dominant, 2|thrombocytopenia type 2 Orphanet:268322|NCIT:C129035|Orphanet:168629|MESH:C536519|GARD:0005191|OMIM:188000 https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2 owl:Class MONDO:0100241 biolink:NamedThing inherited thrombocytopenia An instance of thrombocytopenia that is inherited. tmpte7i6ely_mondo_relaxed.owl hereditary thrombocytopenia OMIMPS:313900|OMIM:273900|OMIM:612004|OMIM:313900|OMIM:188000|OMIM:300367 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008785 biolink:NamedThing sideroblastic anemia 2 tmpte7i6ely_mondo_relaxed.owl anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|pyridoxine refractory sideroblastic anemia|SIDBA2|anemia, sideroblastic, 2, pyridoxine-refractory|sideroblastic anemia pyridoxine-refractory autosomal recessive MESH:C567145|GARD:0008249|DOID:0060065|Orphanet:255132|OMIM:205950|Orphanet:260305 owl:Class MONDO:0016828 biolink:NamedThing autosomal recessive sideroblastic anemia Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. tmpte7i6ely_mondo_relaxed.owl sideroblastic anemia, autosomal recessive|ARSA|congenital sideroblastic anemia OMIM:205950|Orphanet:260305|OMIM:182170|UMLS:C4274077|SCTID:717050005|ICD10:D64.0 owl:Class NCBITaxon:297308 biolink:NamedThing Ixodoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6935 biolink:NamedThing Ixodida tmpte7i6ely_mondo_relaxed.owl ticks GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009657 biolink:NamedThing artery of lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008904 biolink:NamedThing camptomelic syndrome, long-limb type tmpte7i6ely_mondo_relaxed.owl camptomelic syndrome, long-limb type|campomelic syndrome long limb type|campomelic syndrome, long-limb type|Camptomelic syndrome long limb type GARD:0001071|Orphanet:140|MESH:C537977|UMLS:C1859354|OMIM:211990 https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type owl:Class MONDO:0012391 biolink:NamedThing neuronal ceroid lipofuscinosis 8 northern epilepsy variant Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. tmpte7i6ely_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|progressive epilepsy with mental retardation, northern epilepsy|CLN8 disease, EPMR (subtype)|epilepsy, progressive, with intellectual disability|ceroid lipofuscinosis neuronal 8|progressive epilepsy with intellectual disability, northern epilepsy|Northern epilepsy|NCL, Northern epilepsy variant|epilepsy, progressive, with mental retardation|CLN8 disease, late infantile (subtype)|neuronal ceroid lipofuscinosis 8|progressive epilepsy-intellectual disability syndrome, Finnish type|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|CLN8|epilepsy mental deterioration Finnish type|CLN8 disease, Northern epilepsy variant|EPMR|neuronal ceroid lipofuscinosis, Northern epilepsy variant|progressive epilepsy - intellectual disability, Finnish type GARD:0004010|OMIM:610003|OMIM:600143|ICD10:E75.4|Orphanet:1947|DOID:0110724|GARD:0002163 https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type|https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy owl:Class MONDO:0002936 biolink:NamedThing scrotum basal cell carcinoma A scrotal carcinoma that involves the basal cell. tmpte7i6ely_mondo_relaxed.owl basal cell scrotal carcinoma|basal cell carcinoma of the scrotum|scrotal basal cell carcinoma|basal cell carcinoma of scrotum|scrotum skin basal cell carcinoma|skin basal cell carcinoma of scrotum NCIT:C6386|UMLS:C1335934|DOID:4278 owl:Class MONDO:0001651 biolink:NamedThing scrotum squamous cell carcinoma A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement. tmpte7i6ely_mondo_relaxed.owl scrotum squamous cell carcinoma|squamous cell carcinoma of the scrotum|squamous cell carcinoma of scrotum|scrotal squamous cell carcinoma DOID:13159|UMLS:C0349551|NCIT:C4643|SCTID:276860003 owl:Class CHEBI:37581 biolink:NamedThing gamma-lactone A lactone having a five-membered lactone ring. tmpte7i6ely_mondo_relaxed.owl gamma-Laktone|1,4-Lactone|gamma-lactonas|butyrolactones|1,4-lactones|a 1,4-lactone|gamma-lactona|gamma-lactones owl:Class CHEBI:25000 biolink:NamedThing lactone Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpte7i6ely_mondo_relaxed.owl lactones|Lakton|Laktone|lactone|lactonas|lactona|Lacton owl:Class MONDO:0014366 biolink:NamedThing spermatogenic failure 14 Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. tmpte7i6ely_mondo_relaxed.owl SPGF14|spermatogenic failure type 14|azoospermia caused by mutation in ZMYND15|ZMYND15 azoospermia|spermatogenic failure 14 OMIM:615842|DOID:0070179|Orphanet:399805|UMLS:C4014454 owl:Class MONDO:0006744 biolink:NamedThing endolymphatic hydrops An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. tmpte7i6ely_mondo_relaxed.owl labyrinthine hydrops ICD9:386.8|EFO:1000918|DOID:9848|MedDRA:10049934|SCTID:27621000119100|UMLS:C0206586|MESH:D018159|ICD10:H81.0 owl:Class MONDO:0004900 biolink:NamedThing peripheral vertigo tmpte7i6ely_mondo_relaxed.owl ICD9:386.19|UMLS:C0155501|SCTID:50438001|ICD9:386.1|DOID:9847|ICD10:H81.399|ICD10:H81.3|ICD10:H81.39|ICD9:386.10 owl:Class MONDO:0002404 biolink:NamedThing liver hemangioma A hemangioma arising from the liver. tmpte7i6ely_mondo_relaxed.owl hepatic angioma|angioma of the liver|angioma of liver|liver hemangioma|hemangioma of liver|hepatic hemangioma|hemangioma of the liver|liver angioma UMLS:C0238246|NCIT:C3869|DOID:271|SCTID:93469006 owl:Class MONDO:0002337 biolink:NamedThing intra-abdominal hemangioma A hemangioma arising from organs within the abdominal cavity. tmpte7i6ely_mondo_relaxed.owl abdominal cavity hemangioma|hemangioma of abdominal cavity|hemangioma of intra-abdominal structures|hemangioma, intra-abdominal|hemangioma of intra-abdominal structure|intra-abdominal hemangioma SCTID:189197001|DOID:254|UMLS:C0154052|NCIT:C3635|ICD9:228.04|ICD10:D18.03 owl:Class MONDO:0023209 biolink:NamedThing galactorrhoea-hyperprolactinaemia tmpte7i6ely_mondo_relaxed.owl galactorrhea-hyperprolactinemia|hyperprolactinaemia|galactorrhoea-hyperprolactinaemia GARD:0008400|MESH:C535402 https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia owl:Class MONDO:0014250 biolink:NamedThing familial hyperprolactinemia Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. tmpte7i6ely_mondo_relaxed.owl familial hyperprolactinemia|HPRL|hyperprolactinemia|hereditary hyperprolactinemia (disease)|familial isolated prolactin receptor deficiency OMIM:615555|Orphanet:397685|SCTID:763715007|ICD10:E22.1 owl:Class SO:0000342 biolink:NamedThing site_specific_recombination_target_region A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis. tmpte7i6ely_mondo_relaxed.owl site specific recombination target region owl:Class SO:0000299 biolink:NamedThing specific_recombination_site A location where recombination or occurs during mitosis or meiosis. tmpte7i6ely_mondo_relaxed.owl specific recombination site owl:Class MONDO:0042974 biolink:NamedThing parainfluenza virus type 3 infectious disease Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections. tmpte7i6ely_mondo_relaxed.owl infection caused by human parainfluenza virus 3|infection caused by parainfluenza virus 3|infection due to human parainfluenza virus 3|infection due to parainfluenza virus 3|PIV3|human respirovirus 3 disease or disorder|human respirovirus 3 infectious disease|human parainfluenza virus type 3|human respirovirus 3 caused disease or disorder ICD9:079.89|SCTID:30270006|UMLS:C0276324|GARD:0004215|OMOP:4147524 owl:Class HGNC:6109 biolink:NamedThing IPW tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000159 biolink:NamedThing bone marrow failure syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:C2931245|MESH:C536572|OMIMPS:614675 Genetic heterogeneity of OMIM 614675 includes 615715. owl:Class MONDO:0003225 biolink:NamedThing bone marrow disorder Any disease of the bone marrow. tmpte7i6ely_mondo_relaxed.owl bone marrow disorder|disease or disorder of bone marrow|disease of bone marrow|bone marrow disease|bone marrow disease or disorder|disorder of bone marrow UMLS:C0005956|ICD9:289.9|DOID:4961|MESH:D001855|NCIT:C34433|SCTID:127035006 owl:Class UBERON:0001491 biolink:NamedThing wrist joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001846 biolink:NamedThing uterine corpus bizarre leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei. tmpte7i6ely_mondo_relaxed.owl uterine corpus leiomyoma with bizarre nuclei|bizarre leiomyoma of body of uterus|uterine corpus Symplastic leiomyoma|body of uterus bizarre leiomyoma|uterine corpus leiomyoma, atypical variant|uterine corpus bizarre leiomyoma DOID:13958|UMLS:C1519853|NCIT:C40167 owl:Class MONDO:0003288 biolink:NamedThing bizarre leiomyoma A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm. tmpte7i6ely_mondo_relaxed.owl pleomorphic leiomyoma|atypical leiomyoma|bizarre leiomyoma|Symplastic leiomyoma NCIT:C4257|ICDO:8893/0|UMLS:C0334478|DOID:5127 owl:Class MONDO:0008893 biolink:NamedThing C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. tmpte7i6ely_mondo_relaxed.owl trigonocephaly syndrome|Opitz trigonocephaly syndrome|OTCS|Opitz C trigonocephaly|Opitz trigonocephaly C syndrome|trigonocephaly C syndrome|C syndrome OMIM:211750|ICD10:Q87.8|GARD:0005978|Orphanet:1308|MESH:C537418|DOID:0111581|SCTID:715409005|UMLS:C0796095 https://rarediseases.info.nih.gov/diseases/5978/c-syndrome owl:Class NCBITaxon:27973 biolink:NamedThing Encephalitozoon hellem tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6033 biolink:NamedThing Encephalitozoon tmpte7i6ely_mondo_relaxed.owl Septata GC_ID:1 NCBITaxon:27985 ncbi_taxonomy owl:Class UBERON:0003843 biolink:NamedThing dental epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016740 biolink:NamedThing choriocarcinoma of the central nervous system A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO) tmpte7i6ely_mondo_relaxed.owl central nervous system choriocarcinoma (disease)|choriocarcinoma of CNS|choriocarcinoma of the CNS|central nervous system choriocarcinoma Orphanet:252015|NCIT:C7012|UMLS:CN201988|UMLS:C1332876 owl:Class CL:0000810 biolink:NamedThing CD4-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. tmpte7i6ely_mondo_relaxed.owl CD4-positive, alpha-beta immature T-cell|CD4-positive, alpha-beta immature T lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-lymphocyte cell owl:Class CL:0000893 biolink:NamedThing thymocyte An immature T cell located in the thymus. tmpte7i6ely_mondo_relaxed.owl immature T cell|thymic lymphocyte|immature T-cell|immature T lymphocyte|immature T-lymphocyte XAO:0003159|FMA:72202|CALOHA:TS-1042|BTO:0001372 cell owl:Class NCBITaxon:1817 biolink:NamedThing Nocardia tmpte7i6ely_mondo_relaxed.owl Micropolyspora PMID:7547284|PMID:7537058|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:85025 biolink:NamedThing Nocardiaceae tmpte7i6ely_mondo_relaxed.owl Williamsiaceae GC_ID:11|PMID:19244447|PMID:30186281 NCBITaxon:182102 ncbi_taxonomy owl:Class MONDO:0009555 biolink:NamedThing malocclusion and short stature tmpte7i6ely_mondo_relaxed.owl malocclusion and short stature OMIM:248350|MESH:C565421|UMLS:C1855453 owl:Class ENVO:01000242 biolink:NamedThing desert scrubland A scrubland which is located in a desert. tmpte7i6ely_mondo_relaxed.owl desert scrub owl:Class ENVO:00000300 biolink:NamedThing scrubland area Area covered with low-growing or stunted perennial vegetation and usually not mixed with trees. tmpte7i6ely_mondo_relaxed.owl shrubland|bush|chaparal area|scrubland|scrub|heath owl:Class MONDO:0014854 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 66 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 66|CD164 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in CD164|autosomal dominant deafness 66|deafness, autosomal dominant type 66|DFNA66|autosomal dominant nonsyndromic deafness type 66|autosomal dominant nonsyndromic deafness 66 ICD10:H90.3|UMLS:C4283893|DOID:0110587|OMIM:616969 owl:Class MONDO:0005871 biolink:NamedThing Nematoda infectious disease Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. tmpte7i6ely_mondo_relaxed.owl Nematode Infections|Nematodiasis|Nematoda disease or disorder|nematode infection|Infections, Nematode|Infection, Nematode|Nematode infection|Disease due to Nematoda|Nematoda caused disease or disorder|Nematode Infection|disease due to nematoda|nematodiasis UMLS:C0027583|SCTID:84706005|EFO:0007391|MESH:D009349 MONDO:0021556 owl:Class MONDO:0004664 biolink:NamedThing helminthiasis A parasitic infection characterized by the infestation with worms, mainly in the intestine. tmpte7i6ely_mondo_relaxed.owl helminth infection|helminthiasis|worm infection|parasitic helminthiasis infectious disease|helminthosis ICD9:128.8|MESH:D006373|UMLS:C0018889|ICD9:128.9|ICD10:B65.B83|DOID:883|EFO:1001342|NCIT:C84751|SCTID:27601005|GARD:0006578|ICD9:120-129.99|ICD10:B83.9|ICD10:B65-B83 Editor note: this is a vague grouping and does not correspond to any one taxon owl:Class GO:0050906 biolink:NamedThing detection of stimulus involved in sensory perception The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl sensory perception, sensory transduction of stimulus|sensory transduction|sensory perception, stimulus detection|sensory detection of stimulus owl:Class GO:0051606 biolink:NamedThing detection of stimulus The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl stimulus sensing|perception of stimulus|stimulus detection owl:Class MONDO:0032817 biolink:NamedThing neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES|NDCAGF DOID:0070346|OMIM:618571 owl:Class MONDO:0019188 biolink:NamedThing Rubinstein-Taybi syndrome A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. tmpte7i6ely_mondo_relaxed.owl Broad thumbs-halluces syndrome|Rubinstein syndrome|proximal chromosome 16p13.3 deletion syndrome|Broad thumb-hallux syndrome|RSTS MedDRA:10039281|DOID:1933|ICD10:Q87.2|UMLS:C0035934|SCTID:45582004|NCIT:C75466|OMIMPS:180849|Orphanet:783|GARD:0007593|MESH:D012415|ICD9:759.89|OMIM:610543|OMIM:613684|OMIM:180849 owl:Class MONDO:0021145 biolink:NamedThing disorder of genitourinary system A disease that involves the genitourinary system. tmpte7i6ely_mondo_relaxed.owl disease of genitourinary system|disease or disorder of genitourinary system|genitourinary system disease or disorder|syndrome of the genitourinary system|disorder of genitourinary system|urogenital disease|urogenital disorder|disorder of the genitourinary system|genitourinary system disease UMLS:C0080276|ICD10:N00.N99|SCTID:42030000 owl:Class MONDO:0009090 biolink:NamedThing hearing loss, sensorineural, autosomal-mitochondrial type tmpte7i6ely_mondo_relaxed.owl deafness, sensorineural, autosomal-mitochondrial type Orphanet:90641|DOID:0111752|MESH:C565637|OMIM:221745 owl:Class MONDO:0020509 biolink:NamedThing secondary syringomyelia Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. tmpte7i6ely_mondo_relaxed.owl ICD10:G95.0|Orphanet:99857 owl:Class MONDO:0017987 biolink:NamedThing syringomyelia Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). tmpte7i6ely_mondo_relaxed.owl hydromyelia Orphanet:3280|MESH:D013595|DOID:327|GARD:0007725|ICD10:G95.0|ICD10:Q06.4|UMLS:C0039144|SCTID:111496009|NCIT:C85179|OMIM:186700|MedDRA:10042928 https://rarediseases.info.nih.gov/diseases/7725/syringomyelia owl:Class MONDO:0020731 biolink:NamedThing arbovirus infection A viral infection that is transmitted by an arthropod. tmpte7i6ely_mondo_relaxed.owl ARBOVIRUS INFECT|Arboviral disease|arthropod-borne viral infection|Infections, Arbovirus|Arbovirus infection|Arthropod-borne viral infection|Arbovirus Infection|arbovirus infection|Arthropod-Borne Viral Infection|Arbovirus Infections|Infection, Arbovirus MESH:D001102|UMLS:C0003723|EFO:1001269|NCIT:C34396|SCTID:40610006 owl:Class MONDO:0100120 biolink:NamedThing vector-borne disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. tmpte7i6ely_mondo_relaxed.owl vector-borne infection|vector-borne infectious disease https://orcid.org/0000-0002-2825-0621 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000669 biolink:NamedThing pericyte cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. tmpte7i6ely_mondo_relaxed.owl ARC|pericyte of Rouget|cell of Rouget|adventitial reticular cell|pericyte|adventitial cell FMA:63174|BTO:0002441 Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. CL:0000184 cell owl:Class CL:0000630 biolink:NamedThing supportive cell A cell whose primary function is to support other cell types. tmpte7i6ely_mondo_relaxed.owl BTO:0002315 cell owl:Class MONDO:0002185 biolink:NamedThing hyperostosis Excessive thickening of bone. tmpte7i6ely_mondo_relaxed.owl bone hypertrophy|hypertrophy of bone|hypertrophy of bone (morphologic abnormality) NCIT:C34712|UMLS:C0020492|ICD10:M89.30|SCTID:203514008|ICD10:M89.3|DOID:205|ICD9:733.99|MESH:D015576 owl:Class MONDO:0000833 biolink:NamedThing bone remodeling disease A bone disease that results in formation or resorption abnormalities located in bone. tmpte7i6ely_mondo_relaxed.owl DOID:0080005 owl:Class HGNC:16290 biolink:NamedThing TRIM33 tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03304511 biolink:NamedThing seafood newburg (dish) tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F4511 SIREN DB annotation: * has quality 'semiliquid with solid pieces' (http://purl.obolibrary.org/obo/FOODON_03430110) * has quality 'fully heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440014) * derives from 'skeletal meat part, without bone or shell' (http://purl.obolibrary.org/obo/FOODON_03420125) * formed as a result of 'alcoholated' (http://purl.obolibrary.org/obo/FOODON_03460160) * has substance added 'spice or herb added' (http://purl.obolibrary.org/obo/FOODON_03460151) * has substance added http://purl.obolibrary.org/obo/FOODON_03460185 * has substance added 'dairy product added' (http://purl.obolibrary.org/obo/FOODON_03460242) * immersed in 'packed in gravy or sauce' (http://purl.obolibrary.org/obo/FOODON_03480034) http://langual.org subset_siren owl:Class FOODON:00002471 biolink:NamedThing prepared seafood product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012738 biolink:NamedThing long QT syndrome 11 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. tmpte7i6ely_mondo_relaxed.owl long QT syndrome 11|LQT11|AKAP9 long QT syndrome|long QT syndrome caused by mutation in AKAP9|long QT syndrome type 11 MESH:C567513|OMIM:611820|GARD:0010437|ICD10:I45.8|Orphanet:768|DOID:0110652|UMLS:C2678483|Orphanet:101016 https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 owl:Class MONDO:0019171 biolink:NamedThing familial long QT syndrome A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. tmpte7i6ely_mondo_relaxed.owl hereditary long QT syndrome|Romano-Ward long QT syndrome|LQTS|Ward-Romano syndrome|congenital long QT syndrome|familial long QT syndrome|Romano-Ward syndrome OMIM:613485|OMIM:611818|OMIMPS:192500|OMIM:603830|OMIM:613693|OMIM:612955|UMLS:C0035828|OMIM:611820|SCTID:442917000|UMLS:C1141890|OMIM:601005|OMIM:600919|OMIM:611819|OMIM:613688|ICD10:I45.8|MedDRA:10057926|Orphanet:768|OMIM:616249|OMIM:220400|OMIM:612347|OMIM:616247|OMIM:613695|OMIM:192500 owl:Class MONDO:0013299 biolink:NamedThing chromosome 6q11-q14 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 6q11-q14 deletion syndrome|chromosome 6Q13-q14 deletion syndrome OMIM:613544|DOID:0060423|UMLS:C3150790 owl:Class MONDO:0021664 biolink:NamedThing cervical aortic arch tmpte7i6ely_mondo_relaxed.owl aortic arch syndrome Orphanet:99079|ICD10:Q25.4 Editor note: consider merging with MONDO:0017991 owl:Class MONDO:0005042 biolink:NamedThing head disorder A disease involving the head. tmpte7i6ely_mondo_relaxed.owl disease or disorder of head|head disease|disease of head|head disease or disorder|disorder of head UMLS:C1290856|EFO:0000524|SCTID:118934005 owl:Class MONDO:0017200 biolink:NamedThing polycystic ovaries-urethral sphincter dysfunction syndrome Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries. tmpte7i6ely_mondo_relaxed.owl fowler Christmas Chapple syndrome|polycystic ovaries urethral sphincter dysfunction|fowler's syndrome|fowler-Christmas-Chapple syndrome|voiding dysfunction and polycystic ovaries UMLS:C2931462|GARD:0002365|Orphanet:2795|MESH:C537271 owl:Class MONDO:0002263 biolink:NamedThing female reproductive system disorder A disease involving the female reproductive system. tmpte7i6ely_mondo_relaxed.owl disorder of female reproductive system|female reproductive system disease or disorder|disease of female reproductive system|disease or disorder of female reproductive system|disease of female genital system|female reproductive system disease|gynecological disease|disorder of female genital system|female reproductive disease|disorder of female genital tract|female reproductive system disorder DOID:229|ICD9:629.9|MESH:D005831|SCTID:310789003|NCIT:C27020 owl:Class MONDO:0002849 biolink:NamedThing liver rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver. tmpte7i6ely_mondo_relaxed.owl hepatic rhabdomyosarcoma|rhabdomyosarcoma of liver|rhabdomyosarcoma of the liver|rhabdomyosarcoma (disease) of liver|liver rhabdomyosarcoma|liver rhabdomyosarcoma (disease) NCIT:C5834|DOID:4047|UMLS:C1333975 owl:Class MONDO:0005212 biolink:NamedThing rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma, malignant|rhabdomyosarcoma|rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) DOID:3247|EFO:0002918|OMIM:268210|Orphanet:780|OMIM:268220|ICD9:171.9|MESH:D012208|NCIT:C3359|HP:0002859|ONCOTREE:RMS|UMLS:C0035412|MedDRA:10039022|ICD10:C49.9|SCTID:302847003|ICDO:8900/3 owl:Class MONDO:0018025 biolink:NamedThing chronic actinic dermatitis tmpte7i6ely_mondo_relaxed.owl chronic photosensitivity dermatitis|actinic reticuloid UMLS:C1510437|Orphanet:330064|ICD9:692.73|ICD10:L57.8|SCTID:52636001 owl:Class MONDO:0001643 biolink:NamedThing exophthalmic ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl DOID:13135|SCTID:69763009|UMLS:C0152135|ICD9:376.22 owl:Class MONDO:0003425 biolink:NamedThing ophthalmoplegia Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. tmpte7i6ely_mondo_relaxed.owl total ophthalmoplegia|oculomotor paralysis SCTID:78097002|ICD9:378.56|DOID:539|MESH:D009886|NCIT:C79697 owl:Class MONDO:0013276 biolink:NamedThing Reynolds syndrome Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). tmpte7i6ely_mondo_relaxed.owl primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia|Reynolds syndrome Orphanet:779|GARD:0004697|ICD10:L94.0|OMIM:613471|UMLS:C0748397|SCTID:715401008|ICD10:K74.3 https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome owl:Class UBERON:0006606 biolink:NamedThing mandibular symphysis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002216 biolink:NamedThing symphysis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050664 biolink:NamedThing oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor owl:Class GO:0016651 biolink:NamedThing oxidoreductase activity, acting on NAD(P)H Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on NADH or NADPH, other acceptor|NAD(P)H dehydrogenase|oxidoreductase activity, acting on NADH or NADPH owl:Class MONDO:0100383 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23;p13) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(11;19)(q23;p13) NCIT:C168764 owl:Class MONDO:0011018 biolink:NamedThing brachyolmia-amelogenesis imperfecta syndrome An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. tmpte7i6ely_mondo_relaxed.owl tooth agenesis, selective, 6|Verloes-Bourguignon syndrome|platyspondyly with amelogenesis imperfecta|tooth agenesis, selective, 6, formerly|selective tooth agenesis 5|skeletal dysplasia with amelogenesis imperfecta and platyspondyly|DASS|STHAG6|amelogenesis imperfecta and platyspondyly|Verloes Bourguignon syndrome|platyspondyly-amelogenesis imperfecta syndrome|dental anomalies and short stature GARD:0005478|SCTID:716195006|Orphanet:2899|ICD10:Q76.3|DOID:0090143|GARD:5478|OMIM:601216 owl:Class GO:0007018 biolink:NamedThing microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006928 biolink:NamedThing movement of cell or subcellular component The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. tmpte7i6ely_mondo_relaxed.owl cellular component movement|cell movement|cellular component motion owl:Class GO:0090327 biolink:NamedThing negative regulation of locomotion involved in locomotory behavior Any process that decreases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048521 biolink:NamedThing negative regulation of behavior Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpte7i6ely_mondo_relaxed.owl down regulation of behavior|down-regulation of behavior|inhibition of behavior|downregulation of behavior owl:Class ENVO:01000216 biolink:NamedThing montane shrubland biome A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001836 biolink:NamedThing montane biome A biome which is subject to montane altitudinal conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001615 biolink:NamedThing epidemic keratoconjunctivitis Keratoconjunctivitis resulting from infection by adenoviruses. tmpte7i6ely_mondo_relaxed.owl shipyard eye|EKC ICD10:B30.0|SCTID:60548004|UMLS:C0014493|DOID:13014|ICD9:077.1|NCIT:C34590 owl:Class MONDO:0043479 biolink:NamedThing adenoviridae infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. tmpte7i6ely_mondo_relaxed.owl Adenoviridae disease or disorder|infection, adenovirus|Adenoviridae infectious disease|disease caused by adenovirus|adenovirus infection|infections, Adenoviridae|infection, Adenoviridae|adenovirus infections|adenoviridae infectious disease|Adenoviridae infection|infections, adenovirus|Adenoviridae caused disease or disorder|disease due to adenovirus MESH:D000257|NCIT:C115149|SCTID:25225006|UMLS:C0001486 Editor note: check adenovirus vs adenoviridae owl:Class MONDO:0010371 biolink:NamedThing Aland island eye disease An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. tmpte7i6ely_mondo_relaxed.owl FORSIUS-Eriksson type ocular albinism|Forsius-Eriksson type ocular albinism|Forsius Eriksson type ocular albinism|ALAND ISLAND eye disease|Forsius-Eriksson syndrome|AIED|Aland island eye disease|Åland Islands eye disease MESH:C562664|UMLS:C0268505|OMIM:300600|ICD10:H35.5|Orphanet:178333|SCTID:266455006|DOID:0050630|GARD:0010574 owl:Class MONDO:0000425 biolink:NamedThing X-linked disease X-linked form of disease. tmpte7i6ely_mondo_relaxed.owl X-linked disease or disorder|genetic diseases, X chromosome linked|diseases, X-linked genetic|genetic disease, X-linked|X-linked genetic disease|X-linked inherited disease|genetic diseases, X-chromosome linked|disease, X-linked|X-linked inherited disorder|disease or disorder, X-linked|genetic diseases, X linked|X-linked genetic diseases|X-linked hereditary disease|disease, X-linked genetic|X linked genetic diseases|X-linked hereditary disorder SCTID:128430005|ICD9:799.89|NCIT:C85865|DOID:0050735|UMLS:C2828000|UMLS:C1138434|MESH:D040181 owl:Class MONDO:0021048 biolink:NamedThing benign mastocytoma A localized mast cell neoplasm without metastatic potential. tmpte7i6ely_mondo_relaxed.owl MAST cell tumor, benign|mastocytoma, benign|benign mastocytoma NCIT:C9303|UMLS:C2242987|SCTID:404171008|NCIT:C3217|DOID:4658|ICD10:D47.0|UMLS:C0024897 owl:Class GO:2000850 biolink:NamedThing negative regulation of glucocorticoid secretion Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008684 biolink:NamedThing Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. tmpte7i6ely_mondo_relaxed.owl microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation|4p syndrome|Wolf syndrome|4p- syndrome|WOLF-Hirschhorn syndrome|Wolf-Hirschhorn syndrome|Pitt-Rogers-Danks syndrome|4p deletion syndrome|Wittwer syndrome|telomeric deletion 4p|distal monosomy 4p|chromosome 4p syndrome|chromosome 4P16.3 deletion syndrome|chromosome 4p16.3 deletion syndrome|Pitt syndrome|WHS|distal deletion 4p Orphanet:280|MedDRA:10050361|MESH:D054877|ICD10:Q93.3|UMLS:C1956097|UMLS:CN207113|OMIM:194190|UMLS:C0796202|DOID:0050460|UMLS:C0796117|SCTID:718226002|NCIT:C35528|GARD:0007896 https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome owl:Class MONDO:0022762 biolink:NamedThing chromosome 4 short arm deletion tmpte7i6ely_mondo_relaxed.owl partial monosomy of the short arm of chromosome 4|partial deletion of the short arm of chromosome 4|deletion 4p|partial monosomy 4p|partial deletion of the short arm of chromosome type 4|partial deletion of chromosome 4p|4p monosomy|4p deletion|monosomy 4p|partial monosomy of chromosome 4p|chromosome 4p deletion Orphanet:261884|GARD:0006090|MESH:C537637|ICD10:Q93.3 owl:Class HGNC:12530 biolink:NamedThing UGT1A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013573 biolink:NamedThing cranioectodermal dysplasia 3 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. tmpte7i6ely_mondo_relaxed.owl cranioectodermal dysplasia caused by mutation in IFT43|Cranioectodermal dysplasia type 3|IFT43 cranioectodermal dysplasia|CED3|cranioectodermal dysplasia 3|CRANIOECTODERMAL dysplasia 3 UMLS:C3279807|OMIM:614099|Orphanet:1515 owl:Class MONDO:0009032 biolink:NamedThing cranioectodermal dysplasia Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). tmpte7i6ely_mondo_relaxed.owl cranioectodermal dysplasia|CED|Sensenbrenner syndrome|Levin syndrome UMLS:C0432235|UMLS:CN119432|OMIM:614099|OMIM:614378|DOID:0050577|NCIT:C129305|Orphanet:1515|SCTID:254093009|OMIM:613610|ICD10:Q87.5|OMIM:617102|GARD:0000359|ICD9:756.9|OMIMPS:218330|OMIM:218330|UMLS:CN016627 owl:Class CHEBI:35297 biolink:NamedThing acene A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. tmpte7i6ely_mondo_relaxed.owl Acen|acenes|acene|polyacenes|Azen owl:Class CHEBI:35296 biolink:NamedThing ortho-fused polycyclic arene tmpte7i6ely_mondo_relaxed.owl ortho-fused polycyclic arenes owl:Class OBO:CHR_9606-chr20q1 biolink:NamedThing 20q1 (Human) tmpte7i6ely_mondo_relaxed.owl 64444167 28100000 hg38 owl:Class MONDO:0012022 biolink:NamedThing orofacial cleft 4 tmpte7i6ely_mondo_relaxed.owl OFC4|orofacial cleft 4|cleft lip with or without cleft palate, nonsyndromic, 4 Orphanet:1991|UMLS:C1842143|MESH:C564251|OMIM:608371|DOID:0080398 owl:Class MONDO:0006482 biolink:NamedThing ureter small cell carcinoma A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl small cell carcinoma of the ureter|ureter small cell carcinoma|ureteral small cell carcinoma|small cell carcinoma of ureter UMLS:C1336878|NCIT:C6176|EFO:1000610|DOID:6886 owl:Class MONDO:0006481 biolink:NamedThing ureter carcinoma A carcinoma that arises from epithelial cells of the ureter. tmpte7i6ely_mondo_relaxed.owl ureteral carcinoma|carcinoma of ureter|carcinoma of the ureter|ureter cancer|ureter carcinoma SCTID:448864006|EFO:1000609|UMLS:C0600079|NCIT:C8993|DOID:4939 owl:Class MONDO:0025351 biolink:NamedThing multiple congenital anomalies-neurodevelopmental syndrome, x-linked tmpte7i6ely_mondo_relaxed.owl Linked syndrome|MCAND OMIM:301056 owl:Class MONDO:0002734 biolink:NamedThing anal mucinous adenocarcinoma An anal adenocarcinoma characterized by the presence of mucoid stroma formation. tmpte7i6ely_mondo_relaxed.owl mucinous adenocarcinoma of the anus|colloidal adenocarcinoma of the anus|colloid adenocarcinoma of the anus|anal colloidal adenocarcinoma|anal colloid adenocarcinoma|anus mucinous adenocarcinoma|colloid adenocarcinoma of anus|colloidal adenocarcinoma of anus|anal mucinous adenocarcinoma|mucinous adenocarcinoma of anus DOID:3691|NCIT:C5606|UMLS:C1332272 owl:Class MONDO:0002748 biolink:NamedThing rectum mucinous adenocarcinoma An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. tmpte7i6ely_mondo_relaxed.owl colloidal adenocarcinoma of the rectum|mucinous adenocarcinoma of the rectum|rectum mucinous adenocarcinoma|colloidal adenocarcinoma of rectum|rectal colloid adenocarcinoma|rectal mucinous adenocarcinoma|rectal colloidal adenocarcinoma|mucinous adenocarcinoma of rectum|colloid adenocarcinoma of rectum|colloid adenocarcinoma of the rectum UMLS:C0279652|DOID:3709|NCIT:C7973 owl:Class MONDO:0001029 biolink:NamedThing Klippel-Feil syndrome A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. tmpte7i6ely_mondo_relaxed.owl Klippel Feil syndrome|Klippel-Feil and Turner syndrome|Klippel-Feil Sequence|congenital dystrophia brevicollis|autosomal dominant Klippel-Feil syndrome|Klippel-Feil deformity, deafness and facial asymmetry|congenital synostosis of cervical vertebrae|cervical vertebral fusion DOID:10426|OMIM:613702|OMIM:118100|GARD:0010280|ICD9:756.16|MESH:D007714|OMIM:214300|OMIMPS:118100|ICD10:Q76.1|Orphanet:2345|NCIT:C98967|SCTID:5601008 Usage notes: this class includes both isolated forms and forms that are features of other syndromes https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome owl:Class CL:0000809 biolink:NamedThing double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. tmpte7i6ely_mondo_relaxed.owl DP thymocyte|double-positive, alpha-beta immature T lymphocyte|late cortical thymocyte|DP cell Thymocytes of this stage are undergoing positive and negative selection. cell owl:Class CL:0000790 biolink:NamedThing immature alpha-beta T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. tmpte7i6ely_mondo_relaxed.owl immature alpha-beta T-lymphocyte|immature alpha-beta T-cell|immature alpha-beta T lymphocyte cell owl:Class UBERON:0003865 biolink:NamedThing distal phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004300 biolink:NamedThing distal phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000034 biolink:NamedThing function tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000016 biolink:NamedThing disposition tmpte7i6ely_mondo_relaxed.owl Disposition disposition BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type. b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) certain people have a predisposition to colon cancer|children are innately disposed to categorize objects in certain ways.|the cell wall is disposed to filter chemicals in endocytosis and exocytosis|an atom of element X has the disposition to decay to an atom of element Y (forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] |(forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) owl:Class HGNC:30718 biolink:NamedThing DNAJB13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012454 biolink:NamedThing alcohol sensitivity, acute Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment. tmpte7i6ely_mondo_relaxed.owl acute alcohol sensitivity|Hangover, susceptibility to|alcohol sensitivity, acute|alcohol intolerance GARD:0012634|OMIM:610251 https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity owl:Class MONDO:0021698 biolink:NamedThing alcohol-related disorders Disorders related to or resulting from abuse or mis-use of alcohol. tmpte7i6ely_mondo_relaxed.owl disorders, alcohol-related|alcohol-related disorder|disorder, alcohol-related|alcohol related disorders MESH:D019973|SCTID:29212009 owl:Class UBERON:0004992 biolink:NamedThing mucosa of descending colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000317 biolink:NamedThing colonic mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000034 biolink:NamedThing sexual activity "Behaviour related to the activity which primary purpose is the sexual reproduction." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl sexual actions owl:Class NBO:0000010 biolink:NamedThing reproductive behavior Behavior directly related to the production of offspring [NBO:AC] tmpte7i6ely_mondo_relaxed.owl reproduction|reproductive behaviour owl:Class MONDO:0015237 biolink:NamedThing arrhinia Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. tmpte7i6ely_mondo_relaxed.owl congenital absence of the nose|Nose agenesia|isolated nose agenesis|isolated arrhinia|Nose agenesis SCTID:111317000|MESH:C537438|ICD9:748.1|ICD10:Q30.1|GARD:0000364|Orphanet:1134 https://rarediseases.info.nih.gov/diseases/364/arrhinia owl:Class MONDO:0015503 biolink:NamedThing nose and cavum anomaly tmpte7i6ely_mondo_relaxed.owl ICD10:Q30.2|ICD10:Q30.1|ICD10:Q30.8|ICD10:Q30.0|Orphanet:156246|ICD10:Q30.9|ICD10:Q30.3 owl:Class UBERON:0025261 biolink:NamedThing thalamic fiber tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011591 biolink:NamedThing tract of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025139 biolink:NamedThing white muscle disease A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed) tmpte7i6ely_mondo_relaxed.owl muscle diseases, White|White muscle diseases|diseases, White muscle|muscle disease, White|disease, White muscle MESH:D014912|UMLS:C0043153 owl:Class MONDO:0024965 biolink:NamedThing muscular dystrophy, non-human animal tmpte7i6ely_mondo_relaxed.owl animal muscular dystrophy|muscular dystrophies, animal|dystrophies, animal muscular|dystrophy, animal muscular|animal muscular dystrophies UMLS:C0026851|MESH:D009137 owl:Class MONDO:0014497 biolink:NamedThing polyendocrine-polyneuropathy syndrome tmpte7i6ely_mondo_relaxed.owl PEPNS|polyendocrine-polyneuropathy syndrome UMLS:C4015261|Orphanet:453533|OMIM:616113 owl:Class HGNC:1962 biolink:NamedThing CHRNB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019832 biolink:NamedThing acquired pituitary hormone deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired hypopituitarism ICD10:E23.0|Orphanet:95502 Editor note: check this owl:Class UBERON:0000313 biolink:NamedThing portion of cartilage tissue in tibia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004270 biolink:NamedThing lower leg connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q21.11 biolink:NamedThing 8q21.11 (Human) tmpte7i6ely_mondo_relaxed.owl 74600000 72000000 hg38 owl:Class MONDO:0011272 biolink:NamedThing retinitis pigmentosa 25 Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene. tmpte7i6ely_mondo_relaxed.owl RP 25|retinitis pigmentosa 25|RP25|retinitis pigmentosa caused by mutation in EYS|EYS retinitis pigmentosa|retinitis pigmentosa type 25 ICD10:H35.5|UMLS:C1864446|GARD:0010384|DOID:0110384|MESH:C566425|OMIM:602772 https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25 owl:Class HGNC:188 biolink:NamedThing ADAM10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010418 biolink:NamedThing hereditary spastic paraplegia 34 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. tmpte7i6ely_mondo_relaxed.owl X-linked spastic paraplegia 34|hereditary spastic paraplegia type 34|SPG34|X-linked spastic paraplegia type 34|spastic paraplegia 34, X-linked DOID:0110785|MESH:C567465|OMIM:300750|SCTID:763370008|UMLS:C2677897|Orphanet:171607|ICD10:G11.4 owl:Class MONDO:0017912 biolink:NamedThing X-linked pure spastic paraplegia tmpte7i6ely_mondo_relaxed.owl Orphanet:320332|ICD10:G11.4 owl:Class UBERON:0009199 biolink:NamedThing facial suture tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009198 biolink:NamedThing craniofacial suture tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034021 biolink:NamedThing spondylodysplastic Ehlers-Danlos syndrome tmpte7i6ely_mondo_relaxed.owl spondylodysplastic EDS Orphanet:536471 owl:Class MONDO:0001042 biolink:NamedThing patellar tendinitis A tendinitis that involves the patella. tmpte7i6ely_mondo_relaxed.owl tendinitis of patella|patellar tendonitis|patella tendinitis DOID:10471|UMLS:C0158317|ICD9:726.64|SCTID:37785001|ICD10:M76.5|ICD10:M76.50 owl:Class MONDO:0044967 biolink:NamedThing limb disorder A disease or disorder that involves the limb. tmpte7i6ely_mondo_relaxed.owl disease of limb|disease or disorder of limb|limb disease|disorder of limb|limb disease or disorder|disorder of extremity 2022-04-01 SCTID:128605003|ICD9:V49.1|UMLS:C1290877 Reason: grouping class. Term to consider: none owl:Class MONDO:0012670 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 63 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT|deafness, autosomal recessive 63|autosomal recessive nonsyndromic deafness type 63|DFNB63|deafness, autosomal recessive type 63|autosomal recessive deafness 63|autosomal recessive nonsyndromic deafness 63|LRTOMT autosomal recessive nonsyndromic deafness DOID:0110515|MESH:C566951|ICD10:H90.3|UMLS:C1969621|OMIM:611451 owl:Class MONDO:0019588 biolink:NamedThing hearing loss, autosomal recessive Autosomal recessive form of nonsyndromic deafness. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness|autosomal recessive non-syndromic neurosensory deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN|autosomal recessive isolated sensorineural deafness type DFNB|autosomal recessive nonsyndromic genetic deafness|autosomal recessive isolated neurosensory deafness type DFNB|nonsyndromic deafness, autosomal recessive|nonsyndromic genetic deafness, autosomal recessive|deafness, autosomal recessive|autosomal recessive non-syndromic sensorineural deafness type DFNB OMIM:600974|OMIM:603098|OMIM:609823|OMIM:614861|OMIM:603720|OMIM:614035|OMIM:611451|OMIM:612645|OMIM:610248|OMIM:607821|OMIM:610153|MESH:C564609|OMIM:613079|OMIM:613718|OMIM:615837|OMIM:615974|OMIM:608219|OMIM:610212|OMIM:613685|OMIM:610143|OMIM:614617|OMIM:607239|OMIM:616958|OMIM:615429|OMIM:613392|OMIM:612433|OMIM:608565|Orphanet:90636|OMIM:616042|OMIM:611022|OMIM:612789|OMIM:607084|OMIMPS:220290|OMIM:609706|OMIM:609439|OMIM:610419|OMIM:600971|OMIM:607101|OMIM:610265|ICD10:H90.3|OMIM:605818|OMIM:609946|OMIM:600060|OMIM:614899|OMIM:602092|OMIM:613865|OMIM:600792|OMIM:613916|OMIM:607197|OMIM:609647|Orphanet:90635|OMIM:614945|OMIM:603010|OMIM:609952|GARD:0001710|OMIM:609646|OMIM:601386|OMIM:600791|OMIM:601869|OMIM:220290|OMIM:614944|OMIM:610220|OMIM:609941|OMIM:608264|DOID:0050565|OMIM:613391|OMIM:610154|OMIM:615540|OMIM:603678|OMIM:608265|UMLS:CN206424|OMIM:609533|OMIM:600316|OMIM:603629|OMIM:605428|OMIM:601071|OMIM:613285|OMIM:614934|OMIM:613307|OMIM:614414|OMIM:601072|OMIM:607039|OMIM:616705|OMIM:616515|OMIM:609006|OMIM:613453|UMLS:C1846647|OMIM:608653|OMIM:604060 owl:Class MONDO:0005308 biolink:NamedThing ciliopathy A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. tmpte7i6ely_mondo_relaxed.owl ciliopathy|ciliopathies EFO:0003900|UMLS:CN580792|DOID:0060340|OMIM:244400|GTR:AN0966173|Orphanet:363250|MESH:D002925 owl:Class MONDO:0002290 biolink:NamedThing clitoris cancer A malignant neoplasm that affects the clitoris. tmpte7i6ely_mondo_relaxed.owl malignant clitoral neoplasm|carcinoma of clitoris|malignant clitoris tumor|cancer of clitoris|malignant neoplasm of the clitoris|malignant tumor of the clitoris|malignant neoplasm of clitoris|malignant tumor of clitoris|clitoris cancer|malignant clitoral tumor|malignant clitoris neoplasm|clitoral Ca UMLS:C1333070|DOID:2401|NCIT:C9362|UMLS:C0153589|SCTID:371979001|NCIT:C3557|ICD9:184.3|ICD10:C51.2 owl:Class MONDO:0024877 biolink:NamedThing clitoris neoplasm A neoplasm involving a clitoris. tmpte7i6ely_mondo_relaxed.owl clitoral neoplasm|tumor of clitoris|neoplasm of clitoris|clitoris tumor UMLS:C1263793|SCTID:126925009|ICD9:239.5 owl:Class GO:0032278 biolink:NamedThing positive regulation of gonadotropin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin. tmpte7i6ely_mondo_relaxed.owl stimulation of gonadotropin secretion|upregulation of gonadotropin secretion|up regulation of gonadotropin secretion|up-regulation of gonadotropin secretion|activation of gonadotropin secretion|positive regulation of gonadotrophin secretion owl:Class GO:0032276 biolink:NamedThing regulation of gonadotropin secretion Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin. tmpte7i6ely_mondo_relaxed.owl regulation of gonadotrophin secretion owl:Class GO:0009059 biolink:NamedThing macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl biopolymer biosynthetic process|macromolecule biosynthesis|macromolecule anabolism|macromolecule formation|macromolecule synthesis owl:Class GO:1901576 biolink:NamedThing organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. tmpte7i6ely_mondo_relaxed.owl organic molecular entity synthesis|organic molecular entity anabolism|organic substance biosynthesis|organic molecular entity biosynthetic process|organic substance synthesis|organic substance anabolism|organic molecular entity formation|organic substance formation|organic molecular entity biosynthesis owl:Class MONDO:0004380 biolink:NamedThing dendritic cell sarcoma A sarcoma that involves the dendritic cell. tmpte7i6ely_mondo_relaxed.owl sarcoma of dendritic cell|dendritic cell sarcoma|Dendritic cell sarcoma|follicular dendritic cell sarcoma|Dendritic cell sarcoma, not otherwise specified (morphologic abnormality) DOID:7849|SCTID:446643000|ONCOTREE:DCS|NCIT:C27260 Editor note: we place the NCIT class here even though it is NOS owl:Class MONDO:0004805 biolink:NamedThing leukocyte disorder A disease involving leukocytes. tmpte7i6ely_mondo_relaxed.owl white blood cell disorder|disorder, leukocyte|disease of leukocyte|disorders, leukocyte|leukocyte disorder|leukocyte disease|leukocyte disease or disorder|disease or disorder of leukocyte|disorder of leukocyte ICD9:288|DOID:9500|UMLS:C0023510|ICD9:288.9|MESH:D007960|SCTID:54097007|ICD10:D72.9 owl:Class HGNC:1455 biolink:NamedThing CALR tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034105 biolink:NamedThing positive regulation of tissue remodeling Any process that activates or increases the frequency, rate, or extent of tissue remodeling. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051240 biolink:NamedThing positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpte7i6ely_mondo_relaxed.owl activation of multicellular organismal process|up regulation of multicellular organismal process|up-regulation of multicellular organismal process|upregulation of multicellular organismal process|stimulation of multicellular organismal process owl:Class MONDO:0007688 biolink:NamedThing Myhre syndrome Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. tmpte7i6ely_mondo_relaxed.owl MYHRE syndrome|Myhre syndrome|laryngotracheal stenosis, arthropathy, prognathism, and short stature|facial dysmorphism - intellectual deficit - short stature - hearing loss|MYHRS|Growth mental deficiency syndrome of Myhre|LAPS syndrome|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|Growth-mental deficiency syndrome of Myhre ICD10:Q87.8|SCTID:699316006|MESH:C537620|ICD9:759.89|GARD:0002572|UMLS:C0796081|Orphanet:2588|OMIM:139210|NCIT:C123815 https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome owl:Class UBERON:0002061 biolink:NamedThing truncus arteriosus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003498 biolink:NamedThing heart blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004233 biolink:NamedThing childhood pleomorphic rhabdomyosarcoma A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. tmpte7i6ely_mondo_relaxed.owl pleomorphic rhabdomyosarcoma of childhood|childhood anaplastic rhabdomyosarcoma|Pleomorphic rhabdomyosarcoma|pleomorphic childhood rhabdomyosarcoma|pediatric pleomorphic rhabdomyosarcoma NCIT:C7959|DOID:7463|UMLS:C0279614 owl:Class MONDO:0017386 biolink:NamedThing pleomorphic rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. tmpte7i6ely_mondo_relaxed.owl pleomorphic rhabdomyosarcoma, adult type|pleomorphic rhabdomyosarcoma|anaplastic rhabdomyosarcoma NCIT:C4258|DOID:3250|UMLS:C0334480|ICD9:171.9|Orphanet:293199|SCTID:404054005|ICD10:C49.9|ONCOTREE:PLRMS owl:Class UBERON:0001489 biolink:NamedThing manus joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020134 biolink:NamedThing cystic malformation of the posterior fossa tmpte7i6ely_mondo_relaxed.owl ICD9:742.4|SCTID:35111000119109|Orphanet:98520 owl:Class MONDO:0017104 biolink:NamedThing central nervous system cystic malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:269194 owl:Class UBERON:0016520 biolink:NamedThing epithelium of female urethra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003611 biolink:NamedThing uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences. tmpte7i6ely_mondo_relaxed.owl uterine ligament papillary cystadenoma|uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease DOID:5726|NCIT:C40142|UMLS:C3642324 owl:Class MONDO:0019603 biolink:NamedThing osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. tmpte7i6ely_mondo_relaxed.owl SCTID:722111004|ICD10:Q87.5|UMLS:CN206455|Orphanet:91133 owl:Class MONDO:0019366 biolink:NamedThing free sialic acid storage disease Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). tmpte7i6ely_mondo_relaxed.owl free sialic acid storage disease ICD10:E77.8|Orphanet:834|UMLS:C2931872|MedDRA:10067529|GARD:0010870|UMLS:CN206051|MESH:C538523|OMIM:269920|OMIM:604369|MedDRA:10067531 owl:Class MONDO:0019246 biolink:NamedThing inborn disorder of lysosomal amino acid transport tmpte7i6ely_mondo_relaxed.owl disorder of lysosomal amino acid transport Orphanet:79207|UMLS:CN227605 owl:Class MONDO:0010625 biolink:NamedThing immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein tmpte7i6ely_mondo_relaxed.owl Gpl115 deficiency|immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein UMLS:C1839982|OMIM:308220|MESH:C564120 owl:Class UBERON:0035828 biolink:NamedThing right adrenal gland medulla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000958 biolink:NamedThing medulla of organ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050709 biolink:NamedThing negative regulation of protein secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. tmpte7i6ely_mondo_relaxed.owl down-regulation of protein secretion|down regulation of protein secretion|inhibition of protein secretion|downregulation of protein secretion owl:Class GO:1903531 biolink:NamedThing negative regulation of secretion by cell Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell. tmpte7i6ely_mondo_relaxed.owl downregulation of cellular secretion|down-regulation of secretion by cell|inhibition of secretion by cell|inhibition of cellular secretion|negative regulation of cellular secretion|down regulation of secretion by cell|down regulation of cellular secretion|down-regulation of cellular secretion|downregulation of secretion by cell owl:Class MONDO:0008470 biolink:NamedThing spondyloepiphyseal dysplasia with punctate corneal dystrophy tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type Orphanet:163673|MESH:C566660|UMLS:C1866727|OMIM:183850 owl:Class MONDO:0018222 biolink:NamedThing X-linked intellectual disability due to GRIA3 anomalies tmpte7i6ely_mondo_relaxed.owl ICD10:F72|OMIM:300699|Orphanet:364028 owl:Class MONDO:0043187 biolink:NamedThing pulmonary artery agenesis tmpte7i6ely_mondo_relaxed.owl congenital absence of pulmonary artery|pulmonary artery agenesis|agenesis of pulmonary artery|pulmonary artery absent SCTID:86252004|GARD:0004585 owl:Class UBERON:0035529 biolink:NamedThing left common iliac artery tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:41819 biolink:NamedThing Ceratopogonidae tmpte7i6ely_mondo_relaxed.owl no-see-ums|biting midges GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41828 biolink:NamedThing Chironomoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003507 biolink:NamedThing choriocarcinoma of ovary A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma. tmpte7i6ely_mondo_relaxed.owl ovarian choriocarcinoma|choriocarcinoma of the ovary|ovarian germ cell choriocarcinoma|choriocarcinoma of ovary|ovary choriocarcinoma (disease)|germ cell choriocarcinoma of ovary|germ cell choriocarcinoma of the ovary UMLS:C0346181|EFO:1000413|SCTID:254870004|NCIT:C4515|DOID:5550 owl:Class MONDO:0018171 biolink:NamedThing malignant germ cell tumor of ovary Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. tmpte7i6ely_mondo_relaxed.owl malignant germ cell tumor of the ovary|malignant germ cell tumor of ovary|malignant germ cell neoplasm of ovary|malignant ovarian germ cell neoplasm|malignant germ cell neoplasm of the ovary|ovarian germ cell cancer|MOGCT|malignant ovarian germ cell tumor|ovary malignant germ cell tumor OMIM:603737|SCTID:254869000|UMLS:C0346180|Orphanet:35807|DOID:2155|ICD10:C56|NCIT:C4514 owl:Class UBERON:0010254 biolink:NamedThing 2nd arch mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010359 biolink:NamedThing pharyngeal arch mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006352 biolink:NamedThing paranasal sinus adenoid cystic carcinoma A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of the paranasal sinus|accessory sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the accessory sinus|adenoid cystic carcinoma of accessory sinus|paranasal sinus adenoid cystic carcinoma|adenoid cystic carcinoma of paranasal sinus EFO:1000454|NCIT:C6019|UMLS:C1335337 owl:Class GO:0001818 biolink:NamedThing negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine. tmpte7i6ely_mondo_relaxed.owl down-regulation of cytokine biosynthetic process|negative regulation of cytokine formation|negative regulation of cytokine synthesis|negative regulation of cytokine anabolism|inhibition of cytokine production|negative regulation of cytokine biosynthesis|down regulation of cytokine production|negative regulation of cytokine biosynthetic process|downregulation of cytokine production|inhibition of cytokine biosynthetic process|down regulation of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|negative regulation of cytokine secretion|down-regulation of cytokine production owl:Class UBERON:0035820 biolink:NamedThing peritoneal sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009191 biolink:NamedThing sphenoid bone pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009891 biolink:NamedThing facial mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10985 biolink:NamedThing SLC25A15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033968 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:529977 owl:Class MONDO:0016757 biolink:NamedThing malignant triton tumor Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation. tmpte7i6ely_mondo_relaxed.owl MTT|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyosarcoma|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma|MPNST with rhabdomyoblastic differentiation|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma|malignant Triton tumour|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyosarcomatous differentiation SCTID:404040002|ICD9:171.9|NCIT:C4335|UMLS:C0334616|DOID:6707|ICDO:9561/3|Orphanet:252212 owl:Class MONDO:0017827 biolink:NamedThing malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. tmpte7i6ely_mondo_relaxed.owl malignant schwannoma|malignant peripheral nerve sheath tumor|malignant neurilemmoma|malignant peripheral nerve sheath neoplasm|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant tumor of peripheral nerve sheath|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|schwannoma, malignant|malignant neurofibroma|MPNST|neurofibrosarcoma|neurogenic sarcoma|Malig. periph. nerve sheath tum.|malignant neurilemoma|malignant peripheral nerve sheath tumour|malignant neoplasm of the peripheral nerve sheath|malignant neoplasm of peripheral nerve sheath|neurofibrosarcoma, malignant|malignant tumor of the peripheral nerve sheath DOID:5940|MedDRA:10029236|SCTID:404037002|ICDO:9540/3|Orphanet:3148|ONCOTREE:MPNST|ICD10:C47.9|NCIT:C3798|UMLS:C0751690|GARD:0010872|ICD9:171.9|ICDO:9560/3 owl:Class MONDO:0007137 biolink:NamedThing isolated congenital anosmia This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. tmpte7i6ely_mondo_relaxed.owl ANIC|congenital anosmia|anosmia, congenital|anosmia, isolated congenital SCTID:230502003|ICD10:Q07.8|GARD:0009486|MESH:C535983|Orphanet:88620|OMIM:107200 https://github.com/monarch-initiative/mondo/issues/3834 owl:Class CL:0000723 biolink:NamedThing somatic stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-2086|FMA:63368 cell owl:Class MONDO:0008490 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal dominant A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl Weissenbacher-Zweymüller syndrome|Weissenbacher-Zweymuller syndrome|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|Stickler syndrome nonocular type|OSMED, heterozygous|Stickler syndrome, Nonocular type|Stickler syndrome, type 3|STICKLER syndrome, type III|Stickler syndrome caused by mutation in COL11A2|Weissenbacher- Zweymuller syndrome|COL11A2 Stickler syndrome|heterozygous OSMED|Piere-Robin syndrome|Stickler syndrome, non-ocular type|STL3|Pierre Robin sequence-fetal chondrodysplasia syndrome|Stickler syndrome, type III, formerly|Pierre Robin malformation|heterozygous otospondylomegaepiphyseal dysplasia|Pierre Robin syndrome-fetal chondrodysplasia syndrome|Pierre Robin syndrome with fetal chondrodysplasia|WZS|otospondylomegaepiphyseal dysplasia, autosomal dominant|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|OSMEDA Orphanet:166100|ICD10:Q77.7|OMIM:277610|GARD:0005021|DOID:4258|Orphanet:3450|ICD10:Q87.5|SCTID:699313003|OMIM:184840|MESH:C537494|MESH:C535776|GARD:0004351 owl:Class MONDO:0013584 biolink:NamedThing hereditary sensory neuropathy-deafness-dementia syndrome A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13. tmpte7i6ely_mondo_relaxed.owl hereditary sensory neuropathy with hearing loss and dementia|HSNIE|neuropathy, hereditary sensory, type IE|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hereditary sensory and autonomic neuropathy type 1E|HSN 1E|hereditary sensory neuropathy type IE|neuropathy, hereditary sensory, with hearing loss and dementia|HSN1E|neuropathy, hereditary sensory, type 1E|DNMT1-related dementia, deafness, and sensory neuropathy|HSAN1E|hereditary sensory neuropathy type 1E OMIM:614116|DOID:0070158|UMLS:C3279885|GARD:0011927|Orphanet:456318|MESH:C580162|ICD10:G60.8|GARD:11927 owl:Class MONDO:0012765 biolink:NamedThing lymphatic malformation 2 tmpte7i6ely_mondo_relaxed.owl LMPH1B|lymphedema, hereditary, 1B Orphanet:79452|MESH:C567452|UMLS:C2677787|DOID:0070211|OMIM:611944 owl:Class MONDO:0013626 biolink:NamedThing psoriasis 14, pustular Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene. tmpte7i6ely_mondo_relaxed.owl PSORS14|IL36RN psoriasis|psoriasis caused by mutation in IL36RN|psoriasis 14, pustular|acrodermatitis continua of Hallopeau|familial generalized pustular psoriasis|acrodermatitis continua suppurativa of Hallopeau|deficiency of IL-36R antagonist|PSORP|Interleukin 36 receptor antagonist deficiency|generalized pustular psoriasis|DITRA|deficiency of the interleukin-36 receptor antagonist|palmoplantar pustulosis|deficiency of IL-36Ra|GPP NCIT:C119057|OMIM:614204|ICD10:L40.2|ICD10:L40.1|SCTID:83839005|Orphanet:163931|OMIM:616106|UMLS:CN199965|Orphanet:247353|GARD:0012819|DOID:0080474|Orphanet:404546|ICD9:696.1|SCTID:238612002|UMLS:CN226196 https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0019268 biolink:NamedThing epidermal disease A skin disease that involves the epidermis. tmpte7i6ely_mondo_relaxed.owl rare epidermal disease|epidermal disease UMLS:CN205920|Orphanet:79353 https://github.com/monarch-initiative/mondo/issues/254 owl:Class GO:0044267 biolink:NamedThing cellular protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. tmpte7i6ely_mondo_relaxed.owl cellular protein metabolism owl:Class MONDO:0020778 biolink:NamedThing cone-rod dystrophy and hearing loss 1 tmpte7i6ely_mondo_relaxed.owl CONE-ROD DYSTROPHY AND HEARING LOSS 1|CRDHL1|Crdhl OMIM:617236 owl:Class MONDO:0014980 biolink:NamedThing cone-rod dystrophy and hearing loss tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy and hearing loss; CRDHL|CRDHL|cone-rod dystrophy and hearing loss UMLS:C4310657|EFO:0009151|OMIMPS:617236 owl:Class GO:0051057 biolink:NamedThing positive regulation of small GTPase mediated signal transduction Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction. tmpte7i6ely_mondo_relaxed.owl positive regulation of small GTPase-mediated signal transduction|activation of small GTPase mediated signal transduction|upregulation of small GTPase mediated signal transduction|stimulation of small GTPase mediated signal transduction|up regulation of small GTPase mediated signal transduction|up-regulation of small GTPase mediated signal transduction owl:Class GO:1903961 biolink:NamedThing positive regulation of anion transmembrane transport Any process that activates or increases the frequency, rate or extent of anion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl activation of anion transmembrane transport|up regulation of anion transmembrane transport|up-regulation of anion transmembrane transport|upregulation of anion transmembrane transport owl:Class GO:1903793 biolink:NamedThing positive regulation of anion transport Any process that activates or increases the frequency, rate or extent of anion transport. tmpte7i6ely_mondo_relaxed.owl upregulation of anion transport|up-regulation of anion transport|activation of anion transport|up regulation of anion transport owl:Class MONDO:0040674 biolink:NamedThing orgasm disorder tmpte7i6ely_mondo_relaxed.owl orgasm disorder|orgasmic dysfunction|abnormal orgasm SCTID:82636008|ICD10:F52.3 owl:Class MONDO:0000947 biolink:NamedThing psychosexual disorder tmpte7i6ely_mondo_relaxed.owl non-organic sexual dysfunction ICD9:302.89|DOID:10132|ICD9:302.9|ICD9:302.79|SCTID:56627002 owl:Class MONDO:0019449 biolink:NamedThing lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. tmpte7i6ely_mondo_relaxed.owl UMLS:CN227635|Orphanet:86821|SCTID:718719001|ICD10:Q04.3 owl:Class MONDO:0015148 biolink:NamedThing lissencephaly type 3 tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|Orphanet:102011 owl:Class HGNC:12877 biolink:NamedThing ZMPSTE24 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032857 biolink:NamedThing diarrhea 11, malabsorptive, congenital tmpte7i6ely_mondo_relaxed.owl Intractable Diarrhea of Infancy Syndrome|DIAR11|DIARRHEA 11, MALABSORPTIVE, CONGENITAL OMIM:618662 owl:Class MONDO:0000824 biolink:NamedThing congenital diarrhea tmpte7i6ely_mondo_relaxed.owl diarrhea, congenital UMLS:CN232319|OMIMPS:214700|DOID:0060774 owl:Class MONDO:0002116 biolink:NamedThing malignant exocrine pancreas neoplasm A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. tmpte7i6ely_mondo_relaxed.owl malignant exocrine pancreas tumor|tumor of exocrine pancreas|malignant exocrine pancreas neoplasm|cancer of exocrine pancreas|malignant tumor of the exocrine pancreas|pancreatic exocrine tumor|exocrine pancreas cancer|malignant tumor of exocrine pancreas|malignant neoplasm of the exocrine pancreas|malignant neoplasm of exocrine pancreas DOID:1795|UMLS:C0346648|NCIT:C7430|UMLS:C0345920|SCTID:255088001|SCTID:254604005 owl:Class MONDO:0021076 biolink:NamedThing pancreatic exocrine neoplasm A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. tmpte7i6ely_mondo_relaxed.owl tumor of exocrine pancreas|exocrine pancreas tumor|neoplasm of the exocrine pancreas|pancreatic exocrine neoplasm|neoplasm of exocrine pancreas|exocrine pancreas neoplasm|exocrine pancreas neoplasm (disease)|tumor of the exocrine pancreas|pancreatic exocrine tumor ICD9:235.5|UMLS:C0345920|NCIT:C4445|SCTID:254604005 owl:Class MONDO:0006409 biolink:NamedThing signet ring cell gastric adenocarcinoma A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. tmpte7i6ely_mondo_relaxed.owl signet Ring cell adenocarcinoma of the stomach|signet ring cell gastric adenocarcinoma|signet Ring cell stomach adenocarcinoma|signet ring cell carcinoma of the stomach|signet Ring cell adenocarcinoma of stomach|gastric signet Ring cell adenocarcinoma|gastric signet ring cell adenocarcinoma NCIT:C5250|UMLS:C1335965|ONCOTREE:SSRCC|DOID:8025|EFO:1000524 owl:Class MONDO:0005092 biolink:NamedThing signet ring cell carcinoma A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. tmpte7i6ely_mondo_relaxed.owl signet ring cell adenocarcinoma|signet ring cell carcinoma (morphologic abnormality)|signet ring carcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring cell carcinoma DOID:3493|NCIT:C3774|EFO:0000698|MESH:D018279|UMLS:C0206696|ICDO:8490/3 owl:Class MONDO:0011924 biolink:NamedThing panic disorder 2 tmpte7i6ely_mondo_relaxed.owl panic disorder 2|panic disorder type 2|panic disorder susceptibility locus, chromosome 9Q-related|Pand2 UMLS:C1842922|OMIM:607853 owl:Class MONDO:0005383 biolink:NamedThing panic disorder An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. tmpte7i6ely_mondo_relaxed.owl panic anxiety syndrome UMLS:CN240645|OMIM:607853|MESH:D016584|SCTID:371631005|NCIT:C34890|OMIM:609985|DOID:594|EFO:0004262|ICD9:300.01|OMIM:167870 owl:Class HP:0001888 biolink:NamedThing Lymphopenia A reduced number of lymphocytes in the blood. tmpte7i6ely_mondo_relaxed.owl Decreased blood lymphocyte number|Lymphocytopenia|Low lymphocyte number|Absolute lymphocyte count decrease SNOMEDCT_US:48813009|UMLS:C0024312|MSH:D008231 human_phenotype owl:Class HP:0040088 biolink:NamedThing Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormal lymphocyte counts|Abnormal lymphocyte count|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal numbers of lymphocytes SNOMEDCT_US:165534000|UMLS:C0580550 HPO:skoehler human_phenotype owl:Class MONDO:0012099 biolink:NamedThing AICA-ribosiduria AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. tmpte7i6ely_mondo_relaxed.owl ATIC deficiency|5-amino-4-imidazole carboxamide ribosiduria|Atic deficiency|Aica-Ribosuria due to Atic deficiency|AICAR transformylase/IMP cyclohydrolase deficiency SCTID:725289009|ICD10:E79.8|OMIM:608688|UMLS:C1837530|Orphanet:250977|MESH:C563876|UMLS:C4510943 owl:Class UBERON:0010135 biolink:NamedThing sensory circumventricular organ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005408 biolink:NamedThing circumventricular organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006933 biolink:NamedThing pulmonary plasma cell granuloma A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. tmpte7i6ely_mondo_relaxed.owl lymphocytic pseudotumor of lung|granuloma, plasma cell, pulmonary|sclerosing hemangiocytoma of lung MESH:D016726|UMLS:C0085269|ICD9:518.89|SCTID:1648002|EFO:1001135|DOID:3677 owl:Class MONDO:0005275 biolink:NamedThing lung disorder A disease involving the lung. tmpte7i6ely_mondo_relaxed.owl lung disease or disorder|pulmonary diseases|disease of lung|lung disorders|pulmonary disorder|disease or disorder of lung|disorder of lung|lung disease|lung disorder|pulmonary disease|pulmonary disorders EFO:0003818|DOID:850|NCIT:C3198|MESH:D008171|ICD10:J98.4|ICD9:518.89|SCTID:19829001 owl:Class GO:0033047 biolink:NamedThing regulation of mitotic sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016928 biolink:NamedThing partial duplication of chromosome 7 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 7|partial duplication of chromosome type 7 Orphanet:262633|SCTID:726346004 owl:Class UBERON:0013525 biolink:NamedThing stomach lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016676 biolink:NamedThing recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. tmpte7i6ely_mondo_relaxed.owl hyperzincemia and hypercalprotectinemia ICD10:E83.2|OMIM:194470|Orphanet:251523|UMLS:C1860229 owl:Class MONDO:0017764 biolink:NamedThing disorder of zinc metabolism tmpte7i6ely_mondo_relaxed.owl disorder of zinc metabolism and transport ICD10:E83.2|SCTID:46727001|ICD9:275.8|MedDRA:10048260|Orphanet:309845 owl:Class MONDO:0001665 biolink:NamedThing oculoglandular tularemia A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear. tmpte7i6ely_mondo_relaxed.owl ICD10:A21.1|SCTID:73363000|UMLS:C0152944|DOID:13226|ICD9:021.3 owl:Class MONDO:0018077 biolink:NamedThing tularemia Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics. tmpte7i6ely_mondo_relaxed.owl lemming fever|Deerfly fever|Francisella tularensis caused disease or disorder|Francisella tularensis infectious disease|Francisella tularensis infection|Francisella tularensis disease or disorder|Yatobyo (Japan)|Ohara disease|rabbit fever|Pahvant Valley plague GARD:0000396|UMLS:C0041351|ICD10:A21.3|EFO:1001444|NCIT:C85208|ICD10:A21|MedDRA:10045146|ICD10:A21.1|MESH:D014406|ICD10:A21.7|ICD9:021.8|ICD10:A21.8|Orphanet:3392|ICD10:A21.0|ICD10:A21.2|ICD9:021.9|SCTID:19265001|ICD10:A21.9|DOID:2123 https://rarediseases.info.nih.gov/diseases/396/tularemia owl:Class MONDO:0010565 biolink:NamedThing red color blindness Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males. tmpte7i6ely_mondo_relaxed.owl CBP|protanomaly|protan defect|red color blindness|protanopia|partial achromatopsia, protan type|red colorblindness|colorblindness, partial, protan series OMIM:303900|DOID:13910|SCTID:51445007|EFO:0005580|ICD10:H53.54|Orphanet:319691|ICD9:368.51 owl:Class MONDO:0001275 biolink:NamedThing spinal meningioma Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent. tmpte7i6ely_mondo_relaxed.owl spinal cord meningioma (disease)|meningioma of spinal cord|meningioma of the spinal cord|spinal cord meningioma|meningioma, spine|meningioma (disease) of spinal cord NCIT:C6935|MESH:D008579|GARD:0010264|UMLS:C0347515|DOID:1138|SCTID:189167009 https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma owl:Class MONDO:0014762 biolink:NamedThing heterotaxy, visceral, 7, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene. tmpte7i6ely_mondo_relaxed.owl MMP21 visceral heterotaxy|heterotaxy, visceral, 7, autosomal|heterotaxy, visceral, 7, autosomal; HTX7|HTX7|visceral heterotaxy caused by mutation in MMP21 UMLS:C4225217|OMIM:616749 owl:Class MONDO:0018677 biolink:NamedThing visceral heterotaxy A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. tmpte7i6ely_mondo_relaxed.owl visceral heterotaxy|situs ambiguus|heterotaxy, visceral|lateralization defect|heterotaxy syndrome|heterotaxia syndrome|heterotaxia OMIM:601086|OMIM:613751|OMIM:614779|MedDRA:10067265|DOID:0050545|ICD10:Q89.3|OMIM:270100|EFO:0009081|OMIM:616749|OMIM:617205|OMIM:306955|OMIM:606325|UMLS:C3178805|OMIM:605376|Orphanet:450|NCIT:C117273|OMIMPS:306955 owl:Class MONDO:0018513 biolink:NamedThing squamous cell carcinoma of colon A squamous cell carcinoma that involves the colon. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of the colon|squamous cell colon carcinoma|squamous cell carcinoma of the colon|colon squamous cell cancer|colon epidermoid carcinoma|colon squamous cell carcinoma|colonic epidermoid carcinoma|squamous cell carcinoma of colon|colonic squamous cell carcinoma|epidermoid carcinoma of colon NCIT:C5490|ICD10:C18.4|DOID:5519|Orphanet:423994|ICD10:C18.3|ICD10:C18.7|ICD10:C18.8|SCTID:766981007|ICD10:C18.5|UMLS:C1333100|ICD10:C18.2|ICD10:C18.6|UMLS:CN237518|ICD10:C18.0|ICD10:C18.9 owl:Class MONDO:0006165 biolink:NamedThing colorectal squamous cell carcinoma A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpte7i6ely_mondo_relaxed.owl colorectum squamous cell carcinoma|colorectal squamous cell cancer|colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer UMLS:C1707442|NCIT:C43588|EFO:1000198 owl:Class MONDO:0004060 biolink:NamedThing peripheral epithelioid sarcoma An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain. tmpte7i6ely_mondo_relaxed.owl distal-type epithelioid sarcoma|conventional epithelioid sarcoma DOID:6988|NCIT:C27473|UMLS:C1333306 owl:Class MONDO:0017387 biolink:NamedThing epithelioid sarcoma An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). tmpte7i6ely_mondo_relaxed.owl epithelioid cell sarcoma|epithelioid sarcoma|ES MESH:D012509|NCIT:C3714|DOID:6193|ONCOTREE:EPIS|MedDRA:10015099|Orphanet:293202|ICD10:C49.9|UMLS:C0205944|ICDO:8804/3|GARD:0010181 https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma owl:Class MONDO:0000554 biolink:NamedThing endocervical adenocarcinoma An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei. tmpte7i6ely_mondo_relaxed.owl endocervix adenocarcinoma|endocervical adenocarcinoma, usual type SCTID:123842006|DOID:0050940|UMLS:C4289591|UMLS:C1263762|NCIT:C127907|ONCOTREE:ECAD owl:Class MONDO:0005153 biolink:NamedThing cervical adenocarcinoma An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of uterine cervix|adenocarcinoma cervix uteri|adenocarcinoma of cervix|cervix uteri adenocarcinoma|adenocarcinoma of the uterine cervix|adenocarcinoma of the cervix|cervical adenocarcinoma|adenocarcinoma - cervix|uterine cervix adenocarcinoma|adenocarcinoma of cervix uteri|adenocarcinoma of the cervix uteri|cervix adenocarcinoma SCTID:254887002|ONCOTREE:CEAD|EFO:0001416|DOID:3702|OMIM:603956|NCIT:C4029 owl:Class MONDO:0013477 biolink:NamedThing hypertrophic cardiomyopathy 20 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy familial hypertrophic 20|hypertrophic cardiomyopathy caused by mutation in NEXN|cardiomyopathy, familial hypertrophic, 20|NEXN hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 20|hypertrophic cardiomyopathy type 20|CMH20 UMLS:C3151267|OMIM:613876|DOID:0110326 owl:Class MONDO:0005045 biolink:NamedThing hypertrophic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. tmpte7i6ely_mondo_relaxed.owl hypertrophic obstructive cardiomyopathy|familial hypertrophic cardiomyopathy|hypertrophic subaortic stenosis|obstructive hypertrophic cardiomyopathy|HCM - hypertrophic cardiomyopathy|hypertrophic cardiomyopathy OMIM:613690|OMIM:613251|OMIM:612098|OMIM:601493|OMIM:613875|SCTID:233873004|OMIM:613874|OMIM:192600|ICD10:I42.1|OMIM:600858|OMIM:608751|OMIM:613838|OMIM:115196|Orphanet:217569|MESH:D002312|MedDRA:10020871|UMLS:C0007194|OMIM:613765|NCIT:C34449|ICD9:425.1|EFO:0000538|OMIM:613255|DOID:11984|OMIMPS:192600|OMIM:115197|ICD9:425.4|ICD9:425.11|OMIM:613873|NCIT:C84773|KEGG:05410 owl:Class MONDO:0013049 biolink:NamedThing DPM3-CDG DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl CDG1O|CDG-Io|carbohydrate deficient glycoprotein syndrome type Io|CDG Io|congenital disorder of glycosylation type 1o|congenital disorder of glycosylation type Io|CDGIo|DPM3-CDG|DPM3-CDG (CDG-Io)|DG1O|Cdg1(Dpm3)|congenital disorder of glycosylation, type Io|CDG syndrome type Io ICD10:E77.8|OMIM:612937|SCTID:725044000|Orphanet:263494|UMLS:C2752007|MESH:C567857|GARD:0012395 owl:Class MONDO:0006336 biolink:NamedThing ovarian endometrioid adenocarcinoma with squamous differentiation An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance. tmpte7i6ely_mondo_relaxed.owl ovarian endometrioid adenocarcinoma with squamous differentiation|ovarian adenoacanthoma|ovarian adenosquamous carcinoma EFO:1000417|NCIT:C40061 owl:Class MONDO:0006335 biolink:NamedThing ovarian endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma. tmpte7i6ely_mondo_relaxed.owl endometrioid carcinoma of ovary|endometrioid ovarian cancer|ovarian endometrioid cancer|ovarian endometrioid adenocarcinoma|ovarian endometrioid carcinoma|endometrioid carcinoma ovary|endometrioid adenocarcinoma of ovary|endometrioid adenocarcinoma of the ovary|endometrioid carcinoma of the ovary|endometrium adenocarcinoma of ovary|endometrioid cancer of ovary|endometrioid ovary carcinoma|ovary endometrium adenocarcinoma|endometrioid cancer of the ovary DOID:5828|ONCOTREE:EOV|EFO:1000416|Orphanet:454723|UMLS:C0346163|ICD10:C56|NCIT:C7979|SCTID:254852002 owl:Class MONDO:0012781 biolink:NamedThing celiac disease, susceptibility to, 12 tmpte7i6ely_mondo_relaxed.owl celiac disease, susceptibility to, 12|gluten-sensitive enteropathy, susceptibility to, 12|CELIAC12 OMIM:612010 owl:Class MONDO:0005130 biolink:NamedThing celiac disease An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. tmpte7i6ely_mondo_relaxed.owl gluten intolerance|celiac sprue|non tropical sprue|gluten-induced enteropathy|idiopathic steatorrhea|coeliac disease OMIM:611598|OMIM:607202|OMIMPS:212750|OMIM:212750|Orphanet:555|DOID:10608|MESH:D002446|UMLS:C0007570|OMIM:609755|OMIM:612007|OMIM:612011|OMIM:612008|OMIM:612009|OMIM:612005|SCTID:396331005|OMIM:609753|EFO:0001060|OMIM:609754|ICD9:579.0|GARD:0011998|NCIT:C26714|ICD10:K90.0|OMIM:612006 owl:Class GO:0016125 biolink:NamedThing sterol metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpte7i6ely_mondo_relaxed.owl sterol metabolism owl:Class CHEBI:76729 biolink:NamedThing EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*). tmpte7i6ely_mondo_relaxed.owl inhibitors of oxidoreductase acting on CH-CH group of donor|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitors|EC 1.3.* inhibitors|oxidoreductase acting on donor CH-CH group inhibitor|EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitors|inhibitors of oxidoreductase acting on CH-CH group of donors|inhibitor of oxidoreductase acting on CH-CH group of donors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitor|oxidoreductase acting on donor CH-CH group inhibitors|EC 1.3.* inhibitor|inhibitor of oxidoreductase acting on CH-CH group of donor owl:Class GO:0045579 biolink:NamedThing positive regulation of B cell differentiation Any process that activates or increases the frequency, rate or extent of B cell differentiation. tmpte7i6ely_mondo_relaxed.owl positive regulation of B-lymphocyte differentiation|activation of B cell differentiation|up regulation of B cell differentiation|upregulation of B cell differentiation|stimulation of B cell differentiation|up-regulation of B cell differentiation|positive regulation of B cell development|positive regulation of B-cell differentiation|positive regulation of B lymphocyte differentiation owl:Class GO:0045621 biolink:NamedThing positive regulation of lymphocyte differentiation Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of lymphocyte differentiation|upregulation of lymphocyte differentiation|up regulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|positive regulation of lymphocyte development|activation of lymphocyte differentiation owl:Class HGNC:7208 biolink:NamedThing MPDZ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904803 biolink:NamedThing regulation of translation involved in cellular response to UV Any regulation of translation that is involved in cellular response to UV. tmpte7i6ely_mondo_relaxed.owl regulation of translation involved in cellular response to ultraviolet radiation stimulus|regulation of protein formation involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet light stimulus|regulation of translation involved in cellular response to UV light stimulus|regulation of protein anabolism involved in cellular response to UV|regulation of protein synthesis involved in cellular response to UV|regulation of protein biosynthesis involved in cellular response to UV|regulation of translation involved in cellular response to UV radiation stimulus owl:Class GO:0006417 biolink:NamedThing regulation of translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpte7i6ely_mondo_relaxed.owl regulation of protein biosynthesis|regulation of protein anabolism|regulation of protein synthesis|regulation of protein formation owl:Class UBERON:0010083 biolink:NamedThing future dermis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015470 biolink:NamedThing familial isolated dilated cardiomyopathy Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia. tmpte7i6ely_mondo_relaxed.owl familial or idiopathic dilated cardiomyopathy|familial isolated dilated cardiomyopathy OMIM:612877|OMIM:615184|OMIM:601154|OMIM:613642|OMIM:615373|OMIM:601493|OMIM:613252|UMLS:CN199609|OMIM:611878|OMIM:613740|OMIM:302045|OMIM:604288|OMIM:613426|OMIM:600884|OMIM:613286|OMIM:613122|Orphanet:154|OMIM:604145|OMIM:609915|OMIM:615235|OMIM:613881|OMIM:615396|OMIM:613694|ICD10:I42.0|OMIM:605582|OMIM:608569|OMIM:611615|OMIM:613172|OMIM:615248|OMIM:601494|OMIM:615916|OMIM:611407|OMIM:611879|OMIM:614672|OMIM:609909|OMIM:607482|OMIM:613424|OMIM:604765|OMIM:612158|OMIM:613697|OMIM:606685|OMIM:611880|UMLS:C0340427 owl:Class MONDO:0016333 biolink:NamedThing familial dilated cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. tmpte7i6ely_mondo_relaxed.owl hereditary dilated cardiomyopathy|idiopathic dilated cardiomyopathy|DCM|dilated cardiomyopathy, familial|hypokinetic dilated cardiomyopathy, familial ICD10:I42.0|Orphanet:217607|OMIMPS:115200|GARD:0002905|GARD:0000221|UMLS:C0340427|Orphanet:217604|MESH:C536231 Editor note: unsure if GARD is familial form owl:Class MONDO:0004736 biolink:NamedThing inherited amino acid metabolic disorder An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. tmpte7i6ely_mondo_relaxed.owl rare inborn error of cellular amino acid metabolic process|inborn error of cellular amino acid metabolic process|amino acid metabolism, inborn errors|amino acid metabolic disorder|inborn errors of amino acid metabolism|inborn error of amino acid metabolism|inborn cellular amino acid metabolic process disorder|inborn amino acid metabolism disorder SCTID:42930003|ICD10:E72.9|ICD9:270.9|DOID:9252|MESH:D000592|GARD:0006770|ICD9:270 owl:Class MONDO:0037871 biolink:NamedThing amino acid metabolism disease A disease that has its basis in the disruption of cellular amino acid metabolic process. tmpte7i6ely_mondo_relaxed.owl amino acid disorder|disorder of cellular amino acid metabolic process|amino acid metabolism disorder|disorder of amino acid metabolism|amino acidopathy|cellular amino acid metabolic process disease SCTID:44779003|NCIT:C97090 owl:Class PATO:0000060 biolink:NamedThing spatial pattern A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. tmpte7i6ely_mondo_relaxed.owl distribution|pattern owl:Class PATO:0000051 biolink:NamedThing morphology A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012290 biolink:NamedThing CEDNIK syndrome CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. tmpte7i6ely_mondo_relaxed.owl cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|CEDNIK syndrome OMIM:609528|MESH:C537943|GARD:0009940|SCTID:722385008|DOID:0060337|UMLS:C1836033|ICD10:Q82.8|Orphanet:66631 owl:Class UBERON:0000365 biolink:NamedThing urothelium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5807 biolink:NamedThing Cryptosporidium parvum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:2200818|NCBITaxon:2200826|NCBITaxon:2200824|NCBITaxon:2200815|NCBITaxon:2200816|NCBITaxon:2200823|NCBITaxon:2200817|NCBITaxon:2200822|NCBITaxon:2200819|NCBITaxon:2200820|NCBITaxon:2200821|NCBITaxon:2200825 ncbi_taxonomy owl:Class NCBITaxon:5806 biolink:NamedThing Cryptosporidium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003822 biolink:NamedThing forelimb stylopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008785 biolink:NamedThing upper limb segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016422 biolink:NamedThing autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. tmpte7i6ely_mondo_relaxed.owl autoimmune polyglandular syndrome type 3|APS type 3|polyglandular autoimmune syndrome type 3|PAS3|autoimmune polyendocrine syndrome type 3|APS3 GARD:0010980|SCTID:449731009|Orphanet:227982|ICD10:E31.0|UMLS:C1535942|UMLS:C3266027|ICD9:258.1 owl:Class MONDO:0015778 biolink:NamedThing syndromic hypothyroidism A hypothyroidism that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with hypothyroidism|syndromic hypothyroidism UMLS:CN226739|Orphanet:177107 owl:Class MONDO:0019929 biolink:NamedThing 49,XXXXY syndrome The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. tmpte7i6ely_mondo_relaxed.owl 49,XXXXY|XXXXY syndrome GARD:0005679|UMLS:C0265499|Orphanet:96264|ICD10:Q98.1|ICD9:758.81|SCTID:38847009 https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome owl:Class MONDO:0005372 biolink:NamedThing male infertility The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. tmpte7i6ely_mondo_relaxed.owl male reproductive system infertility disorder|infertility disorder of male reproductive system|male reproductive system infertility EFO:0004248|ICD10:N46.9|ICD9:606|DOID:12336|SCTID:2904007|ICD10:N46|MESH:D007248|UMLS:C0021364|ICD9:606.9 owl:Class MONDO:0021059 biolink:NamedThing head or neck disorder/disorder Any disease or disorder affecting the head and/or neck region. tmpte7i6ely_mondo_relaxed.owl disorder of craniocervical region|craniocervical region disease|head and neck disorder|head or neck disorder|disease or disorder of craniocervical region|disease of craniocervical region|craniocervical region disease or disorder 2022-04-01 NCIT:C27571|UMLS:C1333941 Reason: grouping class. Term to consider: none owl:Class HGNC:3091 biolink:NamedThing DYRK1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000133 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. tmpte7i6ely_mondo_relaxed.owl immunodeficiency-centromeric instability-facial anomalies syndrome|CIID|immunodeficiency-centromeric instability-facial anomalies|ICF syndrome OMIM:616911|MESH:C537362|UMLS:CN201349|OMIM:614069|OMIM:242860|OMIM:616910|ICD10:D84.8|DOID:0090007|Orphanet:2268|GARD:0002945|OMIMPS:242860|SCTID:234633000 owl:Class MONDO:0004892 biolink:NamedThing refractive error A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. tmpte7i6ely_mondo_relaxed.owl ICD10:H52.7|MESH:D012030|NCIT:C87145|SCTID:39021009|DOID:9835 owl:Class MONDO:0005328 biolink:NamedThing eye disorder A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. tmpte7i6ely_mondo_relaxed.owl disease of eye|eyeball of camera-type eye disease|eye disease|disorder of eye proper|disorder of eyeball of camera-type eye|disorder of eye|disease or disorder of eyeball of camera-type eye|eyeball of camera-type eye disease or disorder|disease of eyeball|disease of eyeball of camera-type eye|eye disorder|disorder of eyeball|disorder of globe MESH:D005128|ICD10:H44|SCTID:371405004|ICD9:379.90|ICD9:360.9|ICD9:379.8|ICD9:360|ICD9:360.89|EFO:0003966|UMLS:C0015397|SCTID:371409005|ICD10:H44.9|DOID:5614|NCIT:C26767 owl:Class MONDO:0005986 biolink:NamedThing torovirus infectious disease Infections with viruses of the genus torovirus, family coronaviridae. tmpte7i6ely_mondo_relaxed.owl Torovirus infectious disease|Torovirus caused disease or disorder|Torovirus disease or disorder EFO:0007514|MESH:D018176|UMLS:C0206607 owl:Class MONDO:0005876 biolink:NamedThing Nidovirales infectious disease Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections. tmpte7i6ely_mondo_relaxed.owl Nidovirales caused disease or disorder|Nidovirales disease or disorder EFO:0007396|UMLS:C0969753|MESH:D030341 owl:Class MONDO:0012345 biolink:NamedThing acral peeling skin syndrome Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. tmpte7i6ely_mondo_relaxed.owl PSS2|acral PSS|localized deciduous skin|localized PSS|peeling skin syndrome type 2|acral deciduous skin|peeling skin syndrome 2|peeling skin syndrome, acral type|acral peeling skin syndrome UMLS:C1853354|Orphanet:263534|GARD:0012863|ICD10:Q80.8|SCTID:709416009|OMIM:609796|MESH:C536316 https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome owl:Class MONDO:0019347 biolink:NamedThing peeling skin syndrome Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS. tmpte7i6ely_mondo_relaxed.owl deciduous skin|keratosis exfoliativa congenita|idiopathic deciduous skin|peeling skin disease|skin peeling syndrome|familial continuous skin peeling|familial continuous skin peeling syndrome|PSS OMIM:270300|Orphanet:817|GARD:0007347|ICD9:757.39|ICD10:Q80.8|Orphanet:263543|SCTID:239065004|OMIMPS:270300|OMIM:613088|DOID:0060283 owl:Class MONDO:0019201 biolink:NamedThing thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. tmpte7i6ely_mondo_relaxed.owl thyrotoxic hypokalemic periodic paralysis SCTID:30967002|MedDRA:10043788|OMIM:613239|ICD10:G72.3|OMIM:614834|Orphanet:79102|UMLS:C0268446|OMIM:188580|GARD:0010814|OMIMPS:188580 https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis owl:Class MONDO:0000995 biolink:NamedThing familial periodic paralysis A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. tmpte7i6ely_mondo_relaxed.owl hereditary periodic paralysis (disease)|familial periodic paralysis|periodic paralysis, familial|genetic periodic paralysis|familial periodic paralyses|periodic paralyses, normokalemic|periodic paralyses, familial|paralysis, normokalemic periodic|normokalemic periodic paralyses|paralysis, familial periodic|paralyses, normokalemic periodic|periodic paralysis, normokalemic|normokalemic periodic paralysis ICD10:G72.3|MESH:D010245|GARD:0006422|SCTID:267607008|DOID:1029|NCIT:C84709|Orphanet:371433 https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis owl:Class MONDO:0003476 biolink:NamedThing clear cell ependymoma An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo. tmpte7i6ely_mondo_relaxed.owl clear cell ependymoma NCIT:C4714|DOID:5507|ONCOTREE:CCE owl:Class MONDO:0016698 biolink:NamedThing ependymoma A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) tmpte7i6ely_mondo_relaxed.owl benign ependymoma|ependymoma, benign|epithelial ependymoma|ependymoma, familial|tanycytic ependymoma (histologic variant)|WHO grade II ependymal neoplasm|WHO grade II ependymal tumor|ependymoma|clear cell ependymoma (histologic variant)|papillary ependymoma (histologic variant) ONCOTREE:EPM|MESH:D004806|DOID:4844|ICDO:9391/3|UMLS:C0014474|Orphanet:251636|MedDRA:10014967|ICD10:D43.2|UMLS:CN201941|GARD:0006353|NCIT:C3017 owl:Class MONDO:0001676 biolink:NamedThing erythropoietic protoporphyria A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. tmpte7i6ely_mondo_relaxed.owl protoporphyria|EPP (erythropoietic protoporphyria porphyria) Orphanet:79278|DOID:13270|NCIT:C84698|ICD10:E80.0|OMIMPS:177000|SCTID:51022005|OMIM:300752|OMIM:177000|MESH:D046351 owl:Class MONDO:0002520 biolink:NamedThing hepatic porphyria A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. tmpte7i6ely_mondo_relaxed.owl hepatic porphyria|acute porphyria|ALAD deficiency|hepatic Porphyrias|acute hepatic porphyria|porphobilinogen synthase deficiency|porphyria of liver|porphyria, hepatic|Delta-aminolevulinate dehydratase deficiency|liver porphyria GTR:AN0932921|Orphanet:95157|OMIM:612740|Orphanet:100924|SCTID:55056006|DOID:3133|MESH:D017094|UMLS:C0162533|UMLS:CN552491|ICD10:E80.2 owl:Class MONDO:0011008 biolink:NamedThing cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. tmpte7i6ely_mondo_relaxed.owl McPherson Clemens syndrome|cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson-Clemens syndrome Orphanet:2001|UMLS:C2931750|ICD10:Q87.8|SCTID:719456001|MESH:C538160|OMIM:601165|GARD:0003430 owl:Class MONDO:0014361 biolink:NamedThing autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. tmpte7i6ely_mondo_relaxed.owl intellectual disability type 26|mental retardation, autosomal dominant type 26|ASD due to AUTS2 deficiency|AUTS2 syndrome|mental retardation, autosomal dominant 26|autosomal dominant non-syndromic intellectual disability 26|MRD26|autism spectrum disorder due to AUTS2 deficiency|autosomal dominant mental retardation 26 UMLS:C4014435|Orphanet:352490|DOID:0070056|OMIM:615834|ICD10:F84.1 owl:Class UBERON:0003543 biolink:NamedThing left lung respiratory bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003539 biolink:NamedThing left lung bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006799 biolink:NamedThing glandular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019219 biolink:NamedThing inborn disorder of neurotransmitter metabolism and transport tmpte7i6ely_mondo_relaxed.owl disorder of neurotransmitter metabolism and transport UMLS:CN227586|Orphanet:79169 owl:Class MONDO:0019250 biolink:NamedThing inborn disorder of biogenic amine metabolism and transport tmpte7i6ely_mondo_relaxed.owl disorder of biogenic amine metabolism and transport Orphanet:79214|UMLS:CN227606 owl:Class MONDO:0002633 biolink:NamedThing cranial nerve neoplasm Abnormal growth of the cells that comprise the cranial nerves. tmpte7i6ely_mondo_relaxed.owl cranial nerve neoplasm|cranial nerve tumor|cranial nerve neoplasms|cranial nerve neoplasm (disease)|neoplasm of the cranial nerve|tumor of cranial nerve|tumor of the cranial nerve|neoplasm of cranial nerve ICD9:239.7|MESH:D003390|UMLS:C0010267|SCTID:126966009|NCIT:C2963|DOID:338 owl:Class MONDO:0010285 biolink:NamedThing syndromic X-linked intellectual disability Abidi type X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability, Abidi type|short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes|intellectual disability, X-linked, syndromic, Abidi type|syndromic X-linked intellectual disability Abidi type|ABIDI X-linked intellectual disability syndrome|intellectual disability, X-linked syndromic, Abidi type|mental retardation, X-linked syndromic, Abidi type|syndromic X-linked mental retardation Abidi type|MRXSAB|ABIDI X-linked mental retardation syndrome|intellectual disability X-linked Abidi type|mental retardation, X-linked, syndromic, Abidi type DOID:0060818|OMIM:300262|MESH:C535556|ICD10:Q87.8|Orphanet:85273|UMLS:C1846056|GARD:0009157 owl:Class MONDO:0000550 biolink:NamedThing extra-adrenal sympathetic paraganglioma A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. tmpte7i6ely_mondo_relaxed.owl extraadrenal pheochromocytoma|extra-adrenal chromaffin neoplasm|extra-adrenal pheochromocytoma|extra-adrenal sympathetic Paraganglionic neoplasm|extra-adrenal sympathetic paraganglioma|extra-adrenal Chromaffinoma EFO:0000489|UMLS:C1257877|DOID:0050936|NCIT:C48576 Editor note: DO classifies as cancer but we treat as neutral owl:Class MONDO:0021072 biolink:NamedThing sympathetic paraganglioma A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension. tmpte7i6ely_mondo_relaxed.owl sympathetic paraganglioma|paraganglioma of sympathetic nervous system|sympathetic nervous system paraganglioma|chromaffin neoplasm|sympathetic Paraganglionic neoplasm|chromaffin tumor|Chromaffinoma SCTID:399343007|MESH:C531777|NCIT:C4216|ICDO:8681/1 owl:Class HP:0001080 biolink:NamedThing Biliary tract abnormality An abnormality of the biliary tree. tmpte7i6ely_mondo_relaxed.owl Biliary tract disease UMLS:C0549613|UMLS:C0005424|SNOMEDCT_US:105997008|MSH:D001660 human_phenotype owl:Class HP:0004297 biolink:NamedThing Abnormality of the biliary system An abnormality of the biliary system. tmpte7i6ely_mondo_relaxed.owl UMLS:C0940767 peter 2008-02-20T11:34:00Z human_phenotype owl:Class OBO:OBA_0000001 biolink:NamedThing biological attribute tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003897 biolink:NamedThing axial muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007687 biolink:NamedThing graying of hair, precocious tmpte7i6ely_mondo_relaxed.owl White hair, premature|graying of hair, precocious MESH:C564209|UMLS:C1841809|OMIM:139100 owl:Class MONDO:0009792 biolink:NamedThing ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Clayton Smith-Donnai syndrome|unusual facies, digital abnormalities, and ichthyosis|ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis OMIM:258840|GARD:0002960|Orphanet:2272|MESH:C536272|UMLS:C1850268 owl:Class MONDO:0017270 biolink:NamedThing autosomal ichthyosis syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN202791|Orphanet:281217 owl:Class HGNC:4688 biolink:NamedThing GUCY2C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032926 biolink:NamedThing sandestig-stefanova syndrome tmpte7i6ely_mondo_relaxed.owl SANDESTIG-STEFANOVA SYNDROME|SANDSTEF OMIM:618804 owl:Class GO:0045641 biolink:NamedThing negative regulation of basophil differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of basophil differentiation|down-regulation of basophil differentiation|inhibition of basophil differentiation|downregulation of basophil differentiation owl:Class MONDO:0014720 biolink:NamedThing autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. tmpte7i6ely_mondo_relaxed.owl DOA+|optic atrophy-deafness-polyneuropathy-myopathy syndrome|dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|Treft-Sanborn-Carey syndrome|optic atrophy type 8|optic atrophy - deafness- polyneuropathy - myopathy GARD:0005243|DOID:0111340|OMIM:616648|SCTID:715374003|Orphanet:1215|UMLS:C4275164|OMIM:165199|UMLS:C1852267|OMIM:125250|ICD10:H47.2|MESH:C535351 owl:Class MONDO:0016797 biolink:NamedThing multiple mitochondrial DNA deletion syndrome tmpte7i6ely_mondo_relaxed.owl multiple mtDNA deletion syndrome UMLS:CN202053|Orphanet:254807 owl:Class MONDO:0009717 biolink:NamedThing Schwartz-Jampel syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). tmpte7i6ely_mondo_relaxed.owl Schwartz-Jampel syndrome|burton skeletal dysplasia|SJS|Schwartz Jampel syndrome|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|Schwartz-Jampel-Aberfeld syndrome|Schwartz Jampel Aberfeld syndrome|osteochondromuscular dystrophy|Osteochondromuscular dystrophy|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|Aberfeld syndrome|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|myotonic chondrodystrophy|burton syndrome|Catel-Hempel syndrome|Catel-Hempel type dysostosis enchondralis metaepiphysaria NCIT:C35008|UMLS:C0036391|ICD9:759.89|ICD10:G71.1|OMIM:255800|ICD10:Q78.8|SCTID:29145002|GARD:0000250|Orphanet:800 owl:Class MONDO:0016121 biolink:NamedThing congenital myotonia tmpte7i6ely_mondo_relaxed.owl Orphanet:206973|ICD10:G71.1|UMLS:C0027127 owl:Class GO:1903170 biolink:NamedThing negative regulation of calcium ion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl negative regulation of transmembrane calcium transport|inhibition of calcium ion transmembrane transport|down regulation of transmembrane calcium transport|downregulation of calcium ion membrane transport|downregulation of calcium ion transmembrane transport|down-regulation of transmembrane calcium transport|inhibition of calcium ion membrane transport|down regulation of calcium ion transmembrane transport|negative regulation of calcium ion membrane transport|down-regulation of calcium ion membrane transport|inhibition of transmembrane calcium transport|downregulation of transmembrane calcium transport|down regulation of calcium ion membrane transport|down-regulation of calcium ion transmembrane transport owl:Class GO:0051926 biolink:NamedThing negative regulation of calcium ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl downregulation of calcium ion transport|negative regulation of calcium transport|down regulation of calcium ion transport|down-regulation of calcium ion transport|inhibition of calcium ion transport owl:Class MONDO:0009393 biolink:NamedThing ornithine translocase deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction. tmpte7i6ely_mondo_relaxed.owl HHH syndrome|ornithine translocase deficiency|ORNT1 deficiency|HHH|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|ornithine carrier deficiency|HHHS|triple H syndrome|Hhh syndrome|ornithine translocase deficiency syndrome|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970|NCIT:C129029|UMLS:C0268540|Orphanet:415|MESH:C538380|SCTID:30287008|GARD:0002830|ICD10:E72.4|DOID:0050720 owl:Class MONDO:0004739 biolink:NamedThing urea cycle disorder A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. tmpte7i6ely_mondo_relaxed.owl disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|inborn disorder of urea cycle metabolism and ammonia detoxification|disorder of urea cycle metabolism and ammonia detoxification|inborn urea cycle disorder|urea cycle disorders|disorder of urea cycle metabolism|UCD|urea cycle metabolism disorder|urea cycle defect ICD9:270.6|ICD10:E72.20|UMLS:C0154246|DOID:9267|ICD10:E72.2|MESH:D056806|SCTID:36444000|Orphanet:79167|GARD:0007837|NCIT:C84785 owl:Class MONDO:0014221 biolink:NamedThing triosephosphate isomerase deficiency Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. tmpte7i6ely_mondo_relaxed.owl TPI deficiency|TPID|triose phosphate-isomerase deficiency|triosephosphate isomerase deficiency MESH:C566029|NCIT:C131652|DOID:0050884|SCTID:234405009|UMLS:C1860808|OMIM:615512|Orphanet:868|ICD10:D55.2|ICD9:282.3|GARD:0005287 https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency owl:Class MONDO:0019213 biolink:NamedThing cerebral organic aciduria A inherited organic acidemia that involves the brain. tmpte7i6ely_mondo_relaxed.owl brain inherited organic acidemia|inherited organic acidemia of brain Orphanet:79158 owl:Class UBERON:0000979 biolink:NamedThing tibia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015004 biolink:NamedThing tibia endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007252 biolink:NamedThing Gordon syndrome Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. tmpte7i6ely_mondo_relaxed.owl DA3|arthrogryposis distal type 3|distal arthrogryposis type IIA|arthrogryposis, distal, type 3|camptodactyly-cleft palate-clubfoot syndrome|camptodactyly, cleft palate, and clubfoot|arthrogryposis multiplex congenita, distal, type 2A|distal arthrogryposis type 3|Gordon syndrome OMIM:114300|MESH:C537288|ICD9:579.8|SCTID:237850008|GARD:0002553|Orphanet:376|ICD10:Q68.8|UMLS:C0220666 https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome owl:Class MONDO:0014669 biolink:NamedThing cone-rod dystrophy 21 Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy 21|retinal dystrophy with early macular involvement|DRAM2 cone-rod dystrophy|cone-rod dystrophy caused by mutation in DRAM2|CORD21|cone-rod dystrophy type 21 UMLS:C4049066|UMLS:CN231743|OMIM:616502 owl:Class HGNC:25897 biolink:NamedThing MFSD2A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002887 biolink:NamedThing negative regulation of myeloid leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl downregulation of myeloid leukocyte mediated immunity|down-regulation of myeloid leukocyte mediated immunity|down regulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity owl:Class GO:0002886 biolink:NamedThing regulation of myeloid leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8623 biolink:NamedThing PAX9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001398 biolink:NamedThing ureter benign neoplasm Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the ureter|ureteral tumor|benign tumor of ureter|ureteral benign neoplasm|benign neoplasm of ureter|benign ureter neoplasm|benign ureteral tumor|ureter benign neoplasm|benign ureteric neoplasm|benign ureteral neoplasm|benign tumor of the ureter|benign ureter tumor SCTID:92464009|DOID:11885|MESH:D014516|ICD9:223.2|SCTID:126882009|NCIT:C3617 owl:Class GO:0043086 biolink:NamedThing negative regulation of catalytic activity Any process that stops or reduces the activity of an enzyme. tmpte7i6ely_mondo_relaxed.owl down-regulation of enzyme activity|negative regulation of metalloenzyme activity|down regulation of metalloenzyme activity|negative regulation of enzyme activity|down regulation of enzyme activity|downregulation of enzyme activity|inhibition of metalloenzyme activity|downregulation of metalloenzyme activity|down-regulation of metalloenzyme activity|inhibition of enzyme activity owl:Class NCBITaxon:1769 biolink:NamedThing Mycobacterium leprae tmpte7i6ely_mondo_relaxed.owl Bacillus leprae GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1763 biolink:NamedThing Mycobacterium tmpte7i6ely_mondo_relaxed.owl PMID:1581193|GC_ID:11|PMID:16014496|PMID:31296783|PMID:7907223|PMID:1883713|PMID:8863452|PMID:7547304|PMID:29497402|PMID:1380284|PMID:7547284|PMID:2275850 ncbi_taxonomy owl:Class MONDO:0030087 biolink:NamedThing diabetes mellitus, permanent neonatal 2 tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, permanent neonatal 2|PNDM2|DIABETES MELLITUS, PERMANENT NEONATAL 2|Developmental Delay, Epilepsy, and Neonatal Diabetes 1 OMIM:618856 owl:Class MONDO:0100164 biolink:NamedThing permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. tmpte7i6ely_mondo_relaxed.owl monogenic diabetes of infancy|permanent diabetes mellitus of infancy|diabetes mellitus, permanent neonatal|PDMI|diabetes mellitus, permanent neonatal, with neurologic features|developmental delay, epilepsy, and neonatal diabetes|diabetes mellitus, permanent, of infancy|PNDM Orphanet:99885|UMLS:C1853564|NCIT:C114902|UMLS:C1833104|Orphanet:79134|SCTID:609565001|OMIMPS:606176|ICD10:P70.2|DOID:0060639|GARD:0010457 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus owl:Class NCBITaxon:2732525 biolink:NamedThing Pokkesviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732007 biolink:NamedThing Nucleocytoviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001619 biolink:NamedThing ophthalmic artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014613 biolink:NamedThing cervical spinal cord gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002315 biolink:NamedThing gray matter of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020062 biolink:NamedThing chromosome X structural anomaly tmpte7i6ely_mondo_relaxed.owl 2022-04-01 ICD10:Q99.8|Orphanet:98159 Reason: grouping class. Term to consider: none owl:Class MONDO:0020060 biolink:NamedThing gonosome structural anomaly tmpte7i6ely_mondo_relaxed.owl Sex-chromosome structural anomaly 2022-04-01 Orphanet:98157 Reason: grouping class. Term to consider: none owl:Class MONDO:0007300 biolink:NamedThing cerebral sarcoma A sarcoma involving a telencephalon. tmpte7i6ely_mondo_relaxed.owl telencephalon sarcoma|sarcoma of telencephalon|cerebral sarcoma Orphanet:2030|MESH:C537946|OMIM:117600|GARD:0010073|UMLS:C1861714 https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma owl:Class MONDO:0030428 biolink:NamedThing immunodeficiency 85 and autoimmunity tmpte7i6ely_mondo_relaxed.owl IMD85 OMIM:619510 owl:Class MONDO:0021094 biolink:NamedThing immunodeficiency disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. tmpte7i6ely_mondo_relaxed.owl immunodeficiency disorder|immunodeficiency|immuno-deficiency|immunodeficiency syndrome OMIMPS:300755|SCTID:234532001|NCIT:C3131|ICD9:279.3|UMLS:C0021051 owl:Class HGNC:1810 biolink:NamedThing CDY2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008940 biolink:NamedThing endosteal sclerosis-cerebellar hypoplasia syndrome Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl cerebellar hypoplasia with endosteal sclerosis 2022-05-01 Orphanet:85186|MESH:C535353|GARD:0001195|ICD10:Q87.8|UMLS:C1859301|OMIM:213002 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class GO:0045578 biolink:NamedThing negative regulation of B cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of B cell differentiation|negative regulation of B-cell differentiation|down-regulation of B cell differentiation|downregulation of B cell differentiation|negative regulation of B-lymphocyte differentiation|negative regulation of B lymphocyte differentiation|inhibition of B cell differentiation|negative regulation of B cell development owl:Class GO:0045620 biolink:NamedThing negative regulation of lymphocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of lymphocyte differentiation|down-regulation of lymphocyte differentiation|negative regulation of lymphocyte development|downregulation of lymphocyte differentiation|inhibition of lymphocyte differentiation owl:Class MONDO:0006923 biolink:NamedThing Bacillaceae infectious disease Infections with bacteria of the family bacillaceae. tmpte7i6ely_mondo_relaxed.owl Bacillaceae disease or disorder|infections, Bacillaceae|infection, Bacillaceae|Bacillaceae caused disease or disorder|Bacillaceae infection MESH:D016863|UMLS:C0085389|EFO:1001124 owl:Class MONDO:0016016 biolink:NamedThing toluene embryopathy Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. tmpte7i6ely_mondo_relaxed.owl toluene embryopathy|Hersh Podruch Weisskopk syndrome|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency UMLS:C2931737|MESH:C538114|Orphanet:1920|ICD10:Q86.8|GARD:0002672 owl:Class CL:0000553 biolink:NamedThing megakaryocyte progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). tmpte7i6ely_mondo_relaxed.owl Meg-CFC|colony-forming unit-megakaryocyte|megacaryocyte progenitor cell|megakaryocytic progenitor cell|MkP|promegakaryocyte|megacaryoblast|CFU-Meg|megakaryoblast|promegacaryocyte FMA:84235|CALOHA:TS-0610|BTO:0001164 Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. cell owl:Class CL:0000763 biolink:NamedThing myeloid cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0647|BTO:0001441 cell owl:Class GO:2000849 biolink:NamedThing regulation of glucocorticoid secretion Any process that modulates the frequency, rate or extent of glucocorticoid secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003504 biolink:NamedThing respiratory system blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008879 biolink:NamedThing Bowen-Conradi syndrome Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. tmpte7i6ely_mondo_relaxed.owl BWCNS|Bowen-Conradi syndrome|Bowen Hutterite syndrome, formerly|Bowen syndrome, Hutterite type|Bowen Hutterite syndrome|Bowen-Conradi Hutterite syndrome|Bowen Hutterite syndrome (formerly) ICD9:759.89|OMIM:211180|MESH:C537081|Orphanet:1270|DOID:0050684|UMLS:C1859405|ICD10:Q87.8|GARD:0005950|SCTID:711153001 https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome owl:Class MONDO:0016871 biolink:NamedThing partial deletion of chromosome 6 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 6|partial monosomy of chromosome 6 ICD10:Q93.5|Orphanet:261791 owl:Class MONDO:0001040 biolink:NamedThing nasopharyngitis An inflammatory process that affects the nasopharynx. tmpte7i6ely_mondo_relaxed.owl chronic nasopharyngitis|nasopharynx inflammation|inflammation of nasopharynx ICD10:J31.1|UMLS:C0155826|NCIT:C34837|UMLS:C0027441|DOID:10460|SCTID:47841006|ICD9:472.2|MESH:D009304|ICD10:J00 owl:Class MONDO:0021166 biolink:NamedThing inflammatory disease A disease involving a pathogenic inflammatory response in the anatomical structure. tmpte7i6ely_mondo_relaxed.owl anatomical structure inflammation|inflammation of anatomical structure|inflammatory disease|inflammatory disorder NCIT:C93210|SCTID:128139000|ICD9:799.89|UMLS:C1290884 owl:Class MONDO:0043226 biolink:NamedThing postpartum amenorrhea-galactorrhea syndrome tmpte7i6ely_mondo_relaxed.owl Chiari Frommel syndrome|syndrome, Chiari-Frommel|Frommel's disease|postpartum amenorrhea-galactorrhea syndrome|postpartum amenorrhoea-galactorrhea syndrome|Chiari-frommel syndrome|persistent postpartum amenorrhea-galactorrhea syndrome|disease, Frommel's|Frommel disease|disease, Frommel SCTID:85039006|GARD:0006037|MESH:D002640|EFO:1001291 owl:Class MONDO:0002657 biolink:NamedThing breast disorder A disease involving the breast. tmpte7i6ely_mondo_relaxed.owl breast diseases|breast disorder|disease or disorder of breast|breast disease|breast disease or disorder|disorder of breast|disease of breast UMLS:C0006145|ICD9:611.8|SCTID:79604008|ICD10:N60-N65|MESH:D001941|ICD9:610-612.99|ICD9:611.9|ICD10:N64.9|NCIT:C26709|DOID:3463 owl:Class MONDO:0010933 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 4 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. tmpte7i6ely_mondo_relaxed.owl neurosensory nonsyndromic recessive deafness 4|autosomal recessive nonsyndromic deafness type 4|DFNB4|autosomal recessive deafness 4 with enlarged vestibular aqueduct|autosomal recessive nonsyndromic deafness 4|dilated vestibular aqueduct|deafness, autosomal recessive 4, with enlarged vestibular aqueduct MESH:C566366|DOID:0110498|Orphanet:90636|ICD10:H90.3|OMIM:600791 owl:Class HGNC:26054 biolink:NamedThing SLC25A38 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022757 biolink:NamedThing chromosome 20 trisomy Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. tmpte7i6ely_mondo_relaxed.owl trisomy 20 mosaicism|mosaic trisomy 20|trisomy 20|trisomy chromosome 20 MESH:C535372|NCIT:C36397|GARD:0005332|UMLS:C0265479 https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy owl:Class MONDO:0700065 biolink:NamedThing trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. tmpte7i6ely_mondo_relaxed.owl chromosomal triplication NCIT:C3421|GARD:0006065 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0004385 biolink:NamedThing adult xanthogranuloma A xanthogranuloma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl xanthogranuloma of adults|adult xanthogranuloma DOID:7875|NCIT:C27514|UMLS:C1332220 owl:Class MONDO:0024617 biolink:NamedThing xanthogranuloma tmpte7i6ely_mondo_relaxed.owl xanthogranuloma SCTID:189099001|NCIT:C27302 owl:Class MONDO:0043179 biolink:NamedThing piepkorn karp hickok syndrome tmpte7i6ely_mondo_relaxed.owl short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect UMLS:C2931016|GARD:0004345|MESH:C535774 owl:Class UBERON:0014796 biolink:NamedThing common tendinous ring tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012894 biolink:NamedThing osteoarthritis susceptibility 6 tmpte7i6ely_mondo_relaxed.owl OS6|osteoarthritis of knee|osteoarthritis susceptibility 6 ICD9:715.96|UMLS:C0409959|SCTID:239873007|OMIM:612401 owl:Class MONDO:0016259 biolink:NamedThing carcinosarcoma of the corpus uteri An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component. tmpte7i6ely_mondo_relaxed.owl uterine corpus malignant mixed Müllerian tumor|malignant mixed müllerian tumor of corpus uteri|uterine mixed Mullerian sarcoma|malignant mixed mesodermal neoplasm of uterine body|mixed Mullerian cancer of corpus uteri|malignant mixed mesodermal tumor of uterine body|uterine corpus malignant mixed mesodermal (Mullerian) tumor|malignant mixed mesodermal neoplasm of uterus|malignant mixed mesodermal neoplasm of the uterine body|uterine corpus malignant mixed mesodermal (Müllerian) tumor|uterine corpus carcinosarcoma|malignant mixed mesodermal tumor of uterine corpus|uterine mixed Müllerian sarcoma|uterine body malignant mixed mesodermal neoplasm|malignant mixed mesodermal tumor of uterus|corpus uteri malignant mixed mesodermal tumor|malignant mixed mesodermal neoplasm of the uterine corpus|malignant mixed Müllerian tumor of the corpus uteri|malignant mixed mesodermal tumor of the uterine corpus|malignant mixed mesodermal tumor of the uterus|mixed Müllerian cancer of corpus uteri|uterine corpus malignant mixed Mullerian tumor|malignant mixed mesodermal tumor of the uterine body|mixed Mullerian sarcoma of the uterus|carcinosarcoma of corpus uteri|mixed Müllerian sarcoma of the uterus|uterine carcinosarcoma|carcinosarcoma of the uterine body|carcinosarcoma of uterine corpus|carcinosarcoma of the uterus|malignant mixed mesodermal neoplasm of uterine corpus|carcinosarcoma of the uterine corpus|mixed Müllerian sarcoma of uterus|uterine corpus malignant mixed Müllerian neoplasm|uterine body carcinosarcoma|uterine malignant mixed mesodermal neoplasm|malignant mixed Mullerian tumor of the corpus uteri|carcinosarcoma of the corpus uteri|mixed Mullerian sarcoma of uterus|carcinosarcoma of uterus|uterine body malignant mixed mesodermal tumor|carcinosarcoma of uterine body|malignant mixed mesodermal neoplasm of the uterus|uterine corpus malignant mixed mesodermal tumor|uterine corpus malignant mixed mesodermal neoplasm|uterine malignant mixed mesodermal tumor|uterine corpus malignant mixed Mullerian neoplasm|body of uterus carcinosarcoma GARD:0012335|NCIT:C9180|ICD10:C54.9|Orphanet:213610 owl:Class MONDO:0006485 biolink:NamedThing uterine carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. tmpte7i6ely_mondo_relaxed.owl uterine carcinosarcoma|carcinosarcoma of the uterus|uterine malignant mixed mesodermal (Mullerian) tumor|mixed mullerian sarcoma of uterus|malignant mixed mesodermal (Müllerian) tumor of the uterus|uterus carcinosarcoma|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|malignant mixed mesodermal (Mullerian) tumor of the uterus|uterine malignant mixed mesodermal (Müllerian) tumor ONCOTREE:UCS|NCIT:C42700|SCTID:702369008|EFO:1000613|DOID:6171|MESH:D012192|UMLS:C0280630 owl:Class MONDO:0009553 biolink:NamedThing Plasmodium falciparum blood infection level tmpte7i6ely_mondo_relaxed.owl Pfbi|Plasmodium falciparum blood infection level|Plasmodium falciparum parasitemia 2022-04-01 OMIM:248310 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0005136 biolink:NamedThing malaria Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. tmpte7i6ely_mondo_relaxed.owl plasmodiosis ICD10:B53.0|ICD9:084|ICD10:B53|ICD10:B50.9|ICD10:B51.0|ICD10:B51.8|ICD10:B53.1|ICD10:B50.8|ICD10:B50.0|ICD10:B52.0|MESH:D008288|OMIM:611162|DOID:12365|EFO:0001068|GARD:0006961|SCTID:61462000|ICD10:B52.9|NCIT:C34797|ICD10:B52.8|MedDRA:10025487|UMLS:C0024530|OMIM:609148|ICD10:B54|ICD10:B53.8|ICD9:084.6|Orphanet:673|ICD10:B51.9 https://rarediseases.info.nih.gov/diseases/6961/malaria owl:Class MONDO:0043125 biolink:NamedThing mcpherson robertson cammarano syndrome tmpte7i6ely_mondo_relaxed.owl dominantly inherited ptosis, strabismus and ectopic pupils MESH:C538161|GARD:0003431|UMLS:C2931751 owl:Class MONDO:0000728 biolink:NamedThing ptosis The drooping of the upper eyelid. tmpte7i6ely_mondo_relaxed.owl drooping eyelid|ptosis|ptosis (disease)|eyelid ptosis|blepharoptosis ptosis (disease) NCIT:C27298|ICD9:374.30|UMLS:C0005745|ICD10:H02.4|DOID:0060260|UMLS:C0033377|MESH:D001763|ICD10:H02.40|ICD9:374.3|ICD10:H02.409|SCTID:11934000|HP:0000508 owl:Class NCBITaxon:7178 biolink:NamedThing Culex tritaeniorhynchus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:53527 biolink:NamedThing Culex tmpte7i6ely_mondo_relaxed.owl Culex GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016210 biolink:NamedThing alternating hemiplegia tmpte7i6ely_mondo_relaxed.owl SCTID:404689008|Orphanet:209978 owl:Class MONDO:0018831 biolink:NamedThing HTRA1-related cerebral small vessel disease tmpte7i6ely_mondo_relaxed.owl HTRA1-related cerebral angiopathy Orphanet:482072|UMLS:CN776824 owl:Class MONDO:0018787 biolink:NamedThing genetic cerebral small vessel disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN776941|Orphanet:477754 owl:Class GO:0009653 biolink:NamedThing anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. tmpte7i6ely_mondo_relaxed.owl morphogenesis|embryogenesis and morphogenesis|anatomical structure organization owl:Class MONDO:0016683 biolink:NamedThing gliomatosis cerebri A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.) tmpte7i6ely_mondo_relaxed.owl gliomatosis cerebri (morphologic abnormality)|gliomatosis cerebri|astrocytosis cerebri|gliomatosis MedDRA:10066254|UMLS:C0334576|NCIT:C4318|ICDO:9381/3|DOID:6128|ICD10:C71.0|MESH:D018302|Orphanet:251582|GARD:0006514 https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri owl:Class MONDO:0016680 biolink:NamedThing high grade astrocytic tumor An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor). tmpte7i6ely_mondo_relaxed.owl high grade astrocytic neoplasm|high-grade astrocytic tumor|high-grade astrocytic neoplasm|high grade astrocytic tumor|high-grade astrocytoma UMLS:C3640999|NCIT:C102897|Orphanet:251561 owl:Class MONDO:0019239 biolink:NamedThing inborn disorder of serine family metabolism An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn error of serine family amino acid metabolic process|inborn serine family amino acid metabolic process disorder|inborn disorder of serine or glycine metabolism|disorder of serine or glycine metabolism|rare inborn error of serine family amino acid metabolic process UMLS:CN227601|Orphanet:79194 owl:Class UBERON:0005492 biolink:NamedThing hyaloid vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007716 biolink:NamedThing alpha thalassemia-intellectual disability syndrome type 1 Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. tmpte7i6ely_mondo_relaxed.owl ATR syndrome linked to chromosome 16|Hemoglobin H-related mental retardation|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|intellectual disability with Hemoglobin H|ATR-16 syndrome|Alpha thalassemia-intellectual disability syndrome|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|alpha-thalassemia/intellectual disability syndrome, type 1|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related|alpha thalassemia-intellectual disability syndrome, deletion type|Alpha thalassemia-mental retardation syndrome|Alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/intellectual disability syndrome, deletion-type|alpha thalassemia-retardation syndrome|alpha-thalassemia/mental retardation syndrome, deletion-type|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|alpha-thalassemia/mental retardation syndrome, type 1|Alpha-thalassemia/intellectual disability syndrome, deletion-type|chromosome 16P deletion syndrome|Alpha-thalassemia/mental retardation syndrome, deletion-type|Hemoglobin H-related intellectual disability|mental retardation with Hemoglobin H|ATR, deletion-type|ATR syndrome, deletion type SCTID:277918006|ICD10:D56.0|UMLS:C0795917|Orphanet:98791|ICD9:282.49|OMIM:141750|MESH:C563050|UMLS:C0475813|DOID:0110029 owl:Class HGNC:6888 biolink:NamedThing MAPKAPK3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100390 biolink:NamedThing acute myeloid leukemia, der12p Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).) tmpte7i6ely_mondo_relaxed.owl AML, der(12p)|AML, der12p NCIT:C173542 owl:Class MONDO:0005380 biolink:NamedThing osteonecrosis A none disease characterized by death of bone tissue due to a lack of blood supply. tmpte7i6ely_mondo_relaxed.owl aseptic necrosis|ischemic bone disease|bone necrosis|osteonecrosis ICD9:733.42|EFO:0004259|SCTID:240196003|ICD10:M87.0|ICD10:M87.1|GARD:0012057|DOID:10159|NCIT:C35476|NCIT:C34841|ICD9:733.41|ICD10:M87.2|ICD9:733.49|ICD9:732.3|ICD10:M87.8|SCTID:397758007|ICD10:M87.3|ICD10:M87|DOID:0080008|NCIT:C34880|MESH:D010020|ICD9:733.43|ICD10:M87.9|Orphanet:399158|ICD9:733.4|ICD9:733.44 owl:Class OBO:MFOMD_0000105 biolink:NamedThing enuresis The habitual voiding of urine during the day or night into one's clothes, bed, or floor. The behaviour is generally involuntary, but in rare situations it may be intentional. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpte7i6ely_mondo_relaxed.owl The child must be at least five years old and must void inappropriately at least twice per week for at least three months owl:Class OBO:MFOMD_0000024 biolink:NamedThing pathological mental process tmpte7i6ely_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0021454 biolink:NamedThing benign neoplasm of eye A benign neoplasm that involves the eye. tmpte7i6ely_mondo_relaxed.owl benign eye neoplasm|benign neoplasm of the eye|benign ocular neoplasm|benign tumor of eye|eye benign neoplasm|benign eye tumor|benign tumor of the eye|benign ocular tumor ICD9:224.0|ICD9:224.9|SCTID:92097004|ICD9:224.8|UMLS:C0496897|NCIT:C4780 owl:Class UBERON:0036245 biolink:NamedThing parenchyma of mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000353 biolink:NamedThing parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016947 biolink:NamedThing partial duplication of the short arm of chromosome 10 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 10p|partial trisomy of the short arm of chromosome 10|partial duplication of chromosome 10p Orphanet:262776 owl:Class MONDO:0016931 biolink:NamedThing partial duplication of chromosome 10 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 10 SCTID:726349006|Orphanet:262648 owl:Class MONDO:0015463 biolink:NamedThing craniodigital syndrome-intellectual disability syndrome Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl craniodigital syndrome with mental retardation|Scott craniodigital syndrome with mental retardation|craniodigital syndrome with intellectual disability|craniodigital-intellectual disability syndrome|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome-mental retardation, Scott type|craniodigital syndrome-intellectual disability, Scott type|Scott-Bryant-Graham syndrome|Scott Bryant Graham syndrome|Scott craniodigital syndrome GARD:0004776|MESH:C537528|Orphanet:1514|SCTID:763665007|UMLS:C1839311|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome owl:Class MONDO:0034110 biolink:NamedThing atypical Fanconi syndrome-neonatal hyperinsulinism syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:544628 owl:Class MONDO:0033211 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:251280 owl:Class UBERON:0002223 biolink:NamedThing endolymphatic sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006937 biolink:NamedThing inner ear epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043228 biolink:NamedThing non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. tmpte7i6ely_mondo_relaxed.owl non-membrane-enclosed organelle owl:Class GO:0043226 biolink:NamedThing organelle Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019609 biolink:NamedThing Zellweger spectrum disorders The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. tmpte7i6ely_mondo_relaxed.owl Zellweger syndrome|Zellweger spectrum disorders|ZWS|congenital iron overload|ZS|cerebrohepatorenal syndrome|Zellweger leukodystrophy OMIM:614872|SCTID:88469006|ICD10:E71.510|OMIM:614862|UMLS:C0043459|DOID:905|OMIM:614859|OMIM:614866|OMIM:614876|OMIM:614882|MESH:D015211|OMIM:614883|OMIM:614870|OMIM:214100|OMIM:614887|ICD10:Q87.8|OMIM:214110|Orphanet:912|GARD:0007917|OMIM:614886|NCIT:C85239 Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 https://github.com/monarch-initiative/mondo/issues/2632|https://github.com/monarch-initiative/mondo/pull/2571/ owl:Class MONDO:0015327 biolink:NamedThing developmental anomaly of metabolic origin tmpte7i6ely_mondo_relaxed.owl Orphanet:139009 owl:Class MONDO:0030937 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 3 tmpte7i6ely_mondo_relaxed.owl MC2DN3|mitochondrial complex 2 deficiency, nuclear type 3 OMIM:619167 owl:Class MONDO:0031230 biolink:NamedThing mitochondrial complex II deficiency, nuclear type tmpte7i6ely_mondo_relaxed.owl OMIMPS:252011 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0005407 biolink:NamedThing sublingual ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000045 biolink:NamedThing ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26932 biolink:NamedThing tetrapyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpte7i6ely_mondo_relaxed.owl tetrapyrroles|tetrapyrrole|a tetrapyrrole owl:Class CHEBI:33833 biolink:NamedThing heteroarene A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). tmpte7i6ely_mondo_relaxed.owl hetarenes|heteroarenes owl:Class UBERON:0006287 biolink:NamedThing radius-ulna pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010884 biolink:NamedThing forelimb bone pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003050 biolink:NamedThing lung large cell carcinoma A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection. tmpte7i6ely_mondo_relaxed.owl large cell lung carcinoma|LCLC|anaplastic lung carcinoma|large cell lung cancer|large cell undifferentiated lung carcinoma|large cell carcinoma of the lung|lung large cell carcinoma|large cell carcinoma of lung ONCOTREE:LCLC|SCTID:254629004|DOID:4556|EFO:1000016|EFO:0003050|UMLS:C0345958|NCIT:C4450|ICD9:162.9 MONDO:0006024 owl:Class MONDO:0005232 biolink:NamedThing large cell carcinoma A malignant epithelial neoplasm composed of large, atypical cells. tmpte7i6ely_mondo_relaxed.owl carcinoma, large cell|large cell carcinoma DOID:4552|ICDO:8012/3|NCIT:C3780|UMLS:C0206704|MESH:D018287 owl:Class MONDO:0009341 biolink:NamedThing Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease-mental retardation syndrome|microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|Hirschsprung disease mental retardation syndrome|microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease|Hirschsprung disease-intellectual disability syndrome|Hirschsprung disease intellectual disability syndrome|Mowat-Wilson syndrome|MOWS|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease OMIM:235730|ICD10:Q43.1|SCTID:703535000|Orphanet:2152|ICD9:759.89|MESH:C536990|UMLS:C1856113|NCIT:C74999|GARD:0009673|DOID:0060485 https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome owl:Class MONDO:0015653 biolink:NamedThing monogenic epilepsy tmpte7i6ely_mondo_relaxed.owl monogenic disease with epilepsy Orphanet:166472|UMLS:CN200063 owl:Class GO:0032410 biolink:NamedThing negative regulation of transporter activity Any process that stops or reduces the activity of a transporter. tmpte7i6ely_mondo_relaxed.owl downregulation of transporter activity|inhibition of transporter activity|down regulation of transporter activity|down-regulation of transporter activity owl:Class MONDO:0002862 biolink:NamedThing bile duct sarcoma A sarcoma that involves the bile duct. tmpte7i6ely_mondo_relaxed.owl sarcoma of bile duct|bile duct sarcoma|sarcoma of the bile duct DOID:4064 owl:Class MONDO:0100231 biolink:NamedThing psoriatic arthritis, susceptibility to, 1 A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement. tmpte7i6ely_mondo_relaxed.owl psoriatic arthritis susceptibility caused by LTA|psoriatic arthritis, susceptibility to, 1 OMIM:607507 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000536 biolink:NamedThing pharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the pharynx. tmpte7i6ely_mondo_relaxed.owl pharynx squamous cell carcinoma|pharyngeal squamous cell carcinoma|pharyngeal throat squamous cell cancer|pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma|pharyngeal squam. cell carcinoma UMLS:C1319317|SCTID:408649007|EFO:1001965|NCIT:C102872|DOID:0050921 owl:Class MONDO:0005517 biolink:NamedThing pharynx cancer A primary or metastatic malignant neoplasm that affects the pharynx. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of chordate pharynx|chordate pharynx cancer|pharynx neoplasm|malignant neoplasm of pharynx|cancer of pharynx|cancer of chordate pharynx|malignant pharyngeal tumor|malignant pharynx tumor|pharyngeal neoplasm|malignant tumor of pharynx|pharyngeal cancer|malignant pharynx neoplasm|malignant chordate pharynx neoplasm|malignant tumor of the pharynx|pharynx cancer|malignant pharyngeal neoplasm MESH:D010610|EFO:0005577|NCIT:C7545|NCIT:C3325|DOID:0060119 owl:Class MONDO:0018066 biolink:NamedThing trisomy X Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). tmpte7i6ely_mondo_relaxed.owl Triplo X syndrome|trisomy type X|triple-X chromosome syndrome|triple-X female|trisomy X|47,XXX|47,XXX syndrome|XXX syndrome|triple X syndrome|47 XXX syndrome|Triplo-X syndrome MESH:C535318|ICD10:Q97.0|Orphanet:3375|GARD:0005672|SCTID:35111009|NCIT:C129718|UMLS:C0221033 https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome owl:Class MONDO:0042488 biolink:NamedThing Cestode infectious disease Infections with true tapeworms of the helminth subclass Cestoda. tmpte7i6ely_mondo_relaxed.owl Cestodosis|tapeworm infections|Bertielliases|Cenuriasis|Cenuriases|Cestoda disease or disorder|disease due to Cestoda|cestode infestation|infections, cestode|Dipylidiasis|Dipylidiases|Cestoda infectious disease|Raillietiniasis|Cestoda caused disease or disorder|infection, tapeworm|tapeworm infection|infection, cestode|Coenuriases|infections, tapeworm|Raillietiniases|Cestodiasis|Bertielliasis|Coenuriasis|cestode infection ICD9:123.8|MESH:D002590|EFO:1001287|ICD9:123.9|SCTID:86133004 owl:Class MONDO:0007143 biolink:NamedThing aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. tmpte7i6ely_mondo_relaxed.owl aortic arch anomaly with peculiar facies and intellectual disability|aortic arch anomaly - peculiar facies - intellectual disability|aortic arch anomaly-peculiar facies-intellectual disability syndrome|aortic arch anomaly with peculiar facies and mental retardation|familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism OMIM:107500|Orphanet:1110|UMLS:C1862682|ICD10:Q87.8|GARD:0000739|MESH:C537785 owl:Class MONDO:0011613 biolink:NamedThing autosomal recessive early-onset Parkinson disease 6 Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene. tmpte7i6ely_mondo_relaxed.owl PINK1 Parkinson disease|Parkinson disease 6, autosomal recessive early-onset|autosomal recessive early-onset Parkinson disease 6|Parkinson disease caused by mutation in PINK1|autosomal recessive early-onset Parkinson's disease 6|early-onset Parkinson disease 6|Parkinson disease 6, early-onset|PARK6|Parkinson disease 6, late-onset, susceptibility to|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|autosomal recessive early-onset Parkinson disease type 6 Orphanet:2828|MESH:C565276|DOID:0060369|OMIM:605909 owl:Class MONDO:0017279 biolink:NamedThing young-onset Parkinson disease A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. tmpte7i6ely_mondo_relaxed.owl early-onset Parkinson disease|early-onset Parkinson's disease|YOPD Orphanet:2828|OMIM:610297|OMIM:606852|OMIM:615528|OMIM:602404|ICD10:G20|OMIM:600116|OMIM:300557|Orphanet:391411|DOID:0060894|OMIM:605909|OMIM:613643|SCTID:715345007|OMIM:606324|OMIM:616840 owl:Class MONDO:0004116 biolink:NamedThing esophageal small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. tmpte7i6ely_mondo_relaxed.owl small cell carcinoma, esophagus|esophagus Oat cell carcinoma|Oat cell carcinoma of the esophagus|esophageal small cell NEC|Oat cell carcinoma of esophagus|esophagus small cell carcinoma|esophageal small cell neuroendocrine carcinoma|small cell carcinoma of the esophagus|small cell carcinoma of esophagus|esophageal small cell carcinoma|esophageal Oat cell carcinoma NCIT:C6762|UMLS:C1112474|DOID:7134 owl:Class MONDO:0016731 biolink:NamedThing desmoplastic infantile astrocytoma/ganglioglioma Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. tmpte7i6ely_mondo_relaxed.owl DIA/DIG UMLS:CN201979|Orphanet:251940 owl:Class MONDO:0016729 biolink:NamedThing mixed neuronal-glial tumor A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl neuronal and Glio-neuronal tumor|neuronal and mixed neuronal-glial tumors|neuronal and Glio-neuronal neoplasm|neuronal and mixed neuronal-glial tumor UMLS:C0474844|Orphanet:251934|NCIT:C4747|UMLS:CN201977 owl:Class HGNC:2973 biolink:NamedThing DNM1L tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006919 biolink:NamedThing tongue squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006914 biolink:NamedThing squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000340 biolink:NamedThing bulbospinal polio A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract. tmpte7i6ely_mondo_relaxed.owl DOID:0050514 Editor note: TODO align with anatomy owl:Class CL:1000280 biolink:NamedThing smooth muscle cell of colon A smooth muscle cell that is part of the colon. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of colon FMA:15663 cell owl:Class CL:0002504 biolink:NamedThing enteric smooth muscle cell A smooth muscle cell of the intestine. tmpte7i6ely_mondo_relaxed.owl intestinal smooth muscle cell tmeehan 2011-01-17T03:39:38Z cell owl:Class MONDO:0011427 biolink:NamedThing Ascaris lumbricoides infection, susceptibility to tmpte7i6ely_mondo_relaxed.owl ascariasis, susceptibility to|Ascaris lumbricoides infection, susceptibility to OMIM:604291 owl:Class UBERON:0003514 biolink:NamedThing limb blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016108 biolink:NamedThing tetraterpenoid metabolic process The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units. tmpte7i6ely_mondo_relaxed.owl tetraterpene metabolism|tetraterpene metabolic process|tetraterpenoid metabolism owl:Class MONDO:0024249 biolink:NamedThing pityriasis lichenoides A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica). tmpte7i6ely_mondo_relaxed.owl parapsoriasis guttata|chronic Pityriasis Lichenoides|pityriasis lichenoides|parapsoriasis en gouttes|Pityriasis Lichenoides, acute|Pityriasis Lichenoides et Varioliformis Acuta|Pityriasis Lichenoides|acute Pityriasis Lichenoides|Pityriasis Lichenoides, chronic|Pityriasis Lichenoides chronica GARD:0010265|MESH:D017514|SCTID:200983001|NCIT:C85013 owl:Class MONDO:0006592 biolink:NamedThing parapsoriasis Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. tmpte7i6ely_mondo_relaxed.owl digitate dermatosis|parapsoriasis en plaque ICD10:L41.9|MESH:D010267|SCTID:88233000|EFO:1000747|ICD10:L41|NCIT:C3312|GARD:0007328|Wikipedia:Parapsoriasis|DOID:9088|UMLS:C0030491|ICD9:696.2 https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis owl:Class MONDO:0005221 biolink:NamedThing renal pelvis urothelial carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. tmpte7i6ely_mondo_relaxed.owl transitional cell carcinoma of renal pelvis|urothelial cell carcinoma of the renal pelvis|urothelial cell carcinoma of renal pelvis|kidney renal pelvis urothelial cancer|renal pelvis urothelial cancer|transitional cell carcinoma of the renal pelvis|renal pelvis urothelial carcinoma|renal pelvis transitional cell carcinoma DOID:5974|SCTID:408642003|UMLS:C0238410|ICD9:189.0|NCIT:C7355|EFO:0003017 owl:Class MONDO:0005519 biolink:NamedThing renal pelvis carcinoma A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant renal pelvis neoplasm|renal pelvis cancer|cancer of renal pelvis|kidney renal pelvis cancer|kidney pelvis carcinoma|carcinoma of the renal pelvis|carcinoma of the kidney pelvis|malignant neoplasm of renal pelvis|carcinoma of renal pelvis|carcinoma of kidney pelvis|renal pelvis carcinoma ICD10:C65|EFO:0005582|UMLS:C0153618|ICD9:189.1|UMLS:C1335749|SCTID:363457009|DOID:4919|NCIT:C6142 owl:Class MONDO:0019746 biolink:NamedThing cystinuria type B tmpte7i6ely_mondo_relaxed.owl OMIM:220100|Orphanet:93613|UMLS:C1857389|ICD10:E72.0 owl:Class MONDO:0009067 biolink:NamedThing cystinuria Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. tmpte7i6ely_mondo_relaxed.owl CSNU|cystinuria, type A/B|cystinuria, type a|cystinuria|cystinuria, type I, formerly|cystinuria, type II, formerly|cystinuria (disease)|cystinuria, type III|cystinuria, type B|cystinuria-lysinuria|cystinuria, type III, formerly|cystinuria-lysinuria syndrome|cystinuria, type non-I, formerly|cystinuria, type I|cystinuria, type non-I|cystinuria, type II cystinuria (disease) GARD:0006237|UMLS:C0010691|ICD10:E72.01|ICD10:E72.0|HP:0003131|SCTID:85020001|Orphanet:214|DOID:9266|Orphanet:93612|NCIT:C84664|OMIM:220100|Orphanet:93613|MESH:D003555|UMLS:C1857389|MedDRA:10011778 https://rarediseases.info.nih.gov/diseases/6237/cystinuria owl:Class MONDO:0006069 biolink:NamedThing ACTH-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. tmpte7i6ely_mondo_relaxed.owl malignant ACTH producing tumor of pituitary|malignant ACTH secreting pituitary gland tumor|malignant adrenocorticotropin producing pituitary gland tumor|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant corticotropin secreting pituitary gland neoplasm|malignant ACTH producing tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant adrenocorticotropin producing tumor of pituitary|malignant adrenocorticotropin producing pituitary neoplasm|malignant pituitary gland Corticotropinoma|malignant ACTH secreting tumor of the pituitary|malignant ACTH secreting tumor of pituitary|malignant adrenocorticotropin secreting pituitary neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|malignant ACTH producing neoplasm of the pituitary|malignant ACTH secreting neoplasm of the pituitary gland|malignant ACTH secreting tumor of the pituitary gland|malignant Corticotropinoma of pituitary|malignant adrenocorticotropin producing tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH producing neoplasm of pituitary|malignant pituitary Corticotropinoma|ACTH producing pituitary gland carcinoma|malignant Corticotropinoma of pituitary gland|malignant ACTH secreting pituitary neoplasm|malignant adrenocorticotropin producing pituitary tumor|malignant ACTH producing pituitary neoplasm|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant ACTH secreting neoplasm of pituitary gland|malignant ACTH producing pituitary gland neoplasm|malignant adrenocorticotropin producing tumor of pituitary gland|malignant adrenocorticotropin producing neoplasm of pituitary|malignant ACTH secreting pituitary tumor|malignant ACTH producing pituitary gland tumor|malignant ACTH producing pituitary tumor|malignant Corticotropinoma of the pituitary gland|malignant ACTH secreting neoplasm of pituitary|malignant ACTH secreting neoplasm of the pituitary|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing neoplasm of pituitary gland|malignant Corticotropinoma of the pituitary|malignant adrenocorticotropin secreting pituitary gland tumor|malignant ACTH secreting tumor of pituitary gland|malignant ACTH producing tumor of the pituitary gland NCIT:C5964|UMLS:C1334556|DOID:6276|EFO:1000067 owl:Class MONDO:0004992 biolink:NamedThing cancer A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. tmpte7i6ely_mondo_relaxed.owl MT|malignant Growth|cell type cancer|cancer|malignant neoplastic disease|neoplasm, malignant|primary cancer|CA|malignant neoplasm|neoplasm (disease), malignant|malignant neoplasm (disease)|organ system cancer|malignancy|malignant tumor MESH:D009369|SCTID:363346000|NCIT:C9305|ICD9:199.1|DOID:0050686|ICDO:8000/3|ICD10:C80|ICD9:195.8|DOID:0050687|UMLS:C0006826|GARD:0011960|EFO:0000311|ICD9:199|DOID:162|ICD10:C80.1|NIFSTD:birnlex_406|ONCOTREE:MT owl:Class MONDO:0011115 biolink:NamedThing spastic paraplegia and Evans syndrome tmpte7i6ely_mondo_relaxed.owl spastic paraplegia and Evans syndrome OMIM:601608|MESH:C566652|UMLS:C1866619 owl:Class MONDO:0011230 biolink:NamedThing ossification of the posterior longitudinal ligament of the spine A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. tmpte7i6ely_mondo_relaxed.owl ossification of the POSTERIOR longitudinal ligament of spine|ossification of Posterior longitudinal ligament|OPLL UMLS:C1865343|EFO:0005895|NCIT:C84975|MESH:C537143|OMIM:602475|DOID:0060887|SCTID:90448008|GARD:0009699 owl:Class GO:0098662 biolink:NamedThing inorganic cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl divalent inorganic cation transport|monovalent inorganic cation transport|transmembrane inorganic cation transport|inorganic cation membrane transport owl:Class MONDO:0012912 biolink:NamedThing pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). tmpte7i6ely_mondo_relaxed.owl Normocalcemic pseudohypoparathyroidism|Albright hereditary osteodystrophy without multiple hormone resistance|pseudopseudohypoparathyroidism|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|PPHP|Pseudopseudo-hypoparathyroidism|Albright hereditary osteodystrophy-PPHP syndrome|Albright Hereditary osteodystrophy with Multiple hormone Resistance|aho-PPHP syndrome|pseudo-pseudohypoparathyroidism MESH:D011556|Orphanet:79445|DOID:4183|SCTID:237659007|GARD:0007860|UMLS:C0033835|ICD9:275.49|OMIM:612463|NCIT:C129722|Orphanet:665|ICD10:E20.1 https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism owl:Class MONDO:0019992 biolink:NamedThing pseudohypoparathyroidism Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). tmpte7i6ely_mondo_relaxed.owl ICD10:E20.1|DOID:4184|Orphanet:97593|MedDRA:10037126|GARD:0010758|SCTID:58976002|UMLS:C0033806|OMIM:612462|ICD9:275.49|OMIM:603233|MESH:D011547|NCIT:C99027 https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism owl:Class MONDO:0013235 biolink:NamedThing pancreatic cancer, susceptibility to, 2 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene. tmpte7i6ely_mondo_relaxed.owl Pnca2|pancreatic cancer, susceptibility to, type 2|familial pancreatic carcinoma caused by mutation in BRCA2|susceptibility to pancreatic cancer 2|BRCA2 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 2 OMIM:613347|Orphanet:1333 owl:Class MONDO:0016827 biolink:NamedThing myopathy-growth delay-intellectual disability-hypospadias syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:2601|UMLS:CN230273|ICD10:G71.8 owl:Class MONDO:0023018 biolink:NamedThing dupont sellier chochillon syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001983 https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome owl:Class UBERON:0003820 biolink:NamedThing prostate bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004902 biolink:NamedThing urogenital sinus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014062 biolink:NamedThing regulation of serotonin secretion Any process that modulates the frequency, rate or extent of the regulated release of serotonin. tmpte7i6ely_mondo_relaxed.owl regulation of serotonin release owl:Class MONDO:0008225 biolink:NamedThing normokalemic periodic paralysis tmpte7i6ely_mondo_relaxed.owl NormoKPP|periodic paralysis type 3|normokalemic PP|potassium-sensitive normokalemic periodic paralysis|normokalemic periodic paralysis Orphanet:680|SCTID:40381009|GARD:0004009|UMLS:C0268445|NCIT:C122791|OMIM:170600 Editor note: NCIT says SNC4A, check this owl:Class UBERON:0004742 biolink:NamedThing dentary tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004768 biolink:NamedThing bone of lower jaw tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004507 biolink:NamedThing atypical breast papilloma An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia. tmpte7i6ely_mondo_relaxed.owl atypical breast papilloma DOID:8227|UMLS:C1332346|NCIT:C36089 owl:Class MONDO:0021097 biolink:NamedThing intraductal breast papilloma A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units. tmpte7i6ely_mondo_relaxed.owl breast duct papilloma|papilloma of the breast|ductal breast papilloma|intraductal papilloma of breast|papilloma of breast|intraductal breast papilloma|intraductal papilloma of the breast|breast papilloma|duct papilloma of breast|duct papilloma of the breast|mammary duct papilloma SCTID:99571000119102|DOID:1626|NCIT:C3863|SCTID:254848002|EFO:1000306 owl:Class GO:0060474 biolink:NamedThing positive regulation of flagellated sperm motility involved in capacitation The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence. tmpte7i6ely_mondo_relaxed.owl positive regulation of sperm motility involved in capacitation owl:Class GO:1902093 biolink:NamedThing positive regulation of flagellated sperm motility Any process that activates or increases the frequency, rate or extent of flagellated sperm motility. tmpte7i6ely_mondo_relaxed.owl positive regulation of sperm motility|upregulation of sperm movement|up regulation of sperm motility|upregulation of sperm motility|positive regulation of sperm movement|up regulation of sperm movement|activation of sperm movement|up-regulation of sperm movement|up-regulation of sperm motility|activation of sperm motility owl:Class GO:0006650 biolink:NamedThing glycerophospholipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. tmpte7i6ely_mondo_relaxed.owl phosphoglyceride metabolism|alpha-glycerophosphate pathway|phosphoglyceride metabolic process|glycerophospholipid metabolism owl:Class MONDO:0032858 biolink:NamedThing developmental and epileptic encephalopathy, 81 tmpte7i6ely_mondo_relaxed.owl DEE81|epileptic encephalopathy, early infantile, 81|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81|EIEE81 OMIM:618663 owl:Class MONDO:0005411 biolink:NamedThing gallbladder cancer A malignant neoplasm involving the gall bladder tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of gallbladder|gall bladder cancer|malignant tumour of gallbladder|malignant neoplasm of gall bladder|gallbladder neoplasm|malignant gallbladder neoplasm|gallbladder Ca|malignant tumor of gallbladder|tumor of the gallbladder|malignant tumor of the gallbladder|malignant gall bladder neoplasm|malignant gallbladder tumor|localized malignant gallbladder neoplasm|malignant neoplasm of the gallbladder|cancer of gall bladder ICD9:156.8|GARD:0009328|DOID:3121|NCIT:C3048|NCIT:C7481|ICD9:156.0|UMLS:C0153452|SCTID:363353009|EFO:0004606|UMLS:C0016978|ONCOTREE:GBC|ICD10:C23 owl:Class MONDO:0002516 biolink:NamedThing digestive system cancer A primary or metastatic malignant neoplasm involving any part of the digestive system. tmpte7i6ely_mondo_relaxed.owl gastrointestinal system cancer|digestive system cancer|malignant neoplasm of digestive system|malignant gastrointestinal system neoplasm|gastrointestinal tract cancer|malignant gastrointestinal neoplasm|cancer of digestive system|malignant digestive system neoplasm|GI tumor NCIT:C3052|ICD9:239.0|ICD10:C15.C26|ICD10:C26.9|NCIT:C4890|DOID:3119|MESH:D005770 owl:Class MONDO:0020432 biolink:NamedThing ectasia of the right atrial appendage Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. tmpte7i6ely_mondo_relaxed.owl ectasia of the right atrial auricle|dilatation of the right atrial auricle|dilatation of the right atrial appendage ICD10:Q20.8|Orphanet:99101 owl:Class MONDO:0019837 biolink:NamedThing atrial appendage anomaly tmpte7i6ely_mondo_relaxed.owl atrial auricle anomaly Orphanet:95510|ICD10:Q20.8 owl:Class MONDO:0016496 biolink:NamedThing pharyngeal-cervical-brachial variant of Guillain-Barre syndrome tmpte7i6ely_mondo_relaxed.owl pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|PCB variant of Guillain-BarrC) syndrome|PCB variant of GBS|PCB variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial weakness|pharyngo-cervico-brachial variant of Guillain-Barré syndrome|pharyngo-cervico-brachial variant of GBS|pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426|UMLS:CN201499|ICD10:G61.0 owl:Class MONDO:0008666 biolink:NamedThing volvulus of midgut A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. tmpte7i6ely_mondo_relaxed.owl volvulus of midgut|intestinal malrotation|congenital malrotation of intestine|intestinal malrotation, familial NCIT:C98961|MESH:C562456|OMIM:193250|SCTID:458422009|Orphanet:2454 owl:Class GO:0098631 biolink:NamedThing cell adhesion mediator activity The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell. tmpte7i6ely_mondo_relaxed.owl cell adhesion molecule|protein binding involved in cell adhesion owl:Class GO:0050839 biolink:NamedThing cell adhesion molecule binding Binding to a cell adhesion molecule. tmpte7i6ely_mondo_relaxed.owl cell adhesion receptor activity|adhesive extracellular matrix constituent|CAM binding|cell adhesion molecule activity owl:Class MONDO:0016091 biolink:NamedThing adult Krabbe disease A Krabbe disease that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl Krabbe disease of adults Orphanet:206448|UMLS:CN200856|ICD10:E75.2 owl:Class MONDO:0009499 biolink:NamedThing Krabbe disease A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. tmpte7i6ely_mondo_relaxed.owl diffuse globoid body sclerosis|Krabbe leukodystrophy|GLD|galactocerebrosidase deficiency|galactosylceramide lipidosis|Krabbe's leukodystrophy|beta galactocerebrosidase deficiency|GALC deficiency|galactosylceramide Beta-galactosidase deficiency|Krabbe's disease|galactosylceramidase deficiency|Krabbe disease|globoid cell leukodystrophy|globoid cell leukoencephalopathy Orphanet:487|GARD:0006844|OMIM:245200|UMLS:C0023521|DOID:10587|MESH:D007965|NCIT:C61254|ICD10:E75.23|OMIM:611722|ICD10:E75.2|MedDRA:10023492|SCTID:189979005 Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] owl:Class GO:0006664 biolink:NamedThing glycolipid metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. tmpte7i6ely_mondo_relaxed.owl glycolipid metabolism owl:Class GO:0006643 biolink:NamedThing membrane lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. tmpte7i6ely_mondo_relaxed.owl membrane lipid metabolism owl:Class UBERON:0000010 biolink:NamedThing peripheral nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011216 biolink:NamedThing organ system subdivision tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013349 biolink:NamedThing ALG11-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). tmpte7i6ely_mondo_relaxed.owl CDG-Ip|CDG1P|CDG syndrome type Ip|carbohydrate deficient glycoprotein syndrome type Ip|ALG11-CDG (CDG-Ip)|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation type Ip|congenital disorder of glycosylation, type Ip SCTID:733085004|OMIM:613661|UMLS:C3150913|ICD10:E77.8|Orphanet:280071|DOID:0080567|GARD:0012396 owl:Class SO:0000453 biolink:NamedThing chromosomal_transposition A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type. tmpte7i6ely_mondo_relaxed.owl transposition|chromosomal transposition owl:Class SO:1000183 biolink:NamedThing chromosome_structure_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. tmpte7i6ely_mondo_relaxed.owl snpEff:CHROMOSOME_LARGE_DELETION|chromosome structure variation owl:Class GO:0002523 biolink:NamedThing leukocyte migration involved in inflammatory response The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response. tmpte7i6ely_mondo_relaxed.owl leucocyte migration during inflammatory response|leukocyte migration during inflammatory response|immune cell trafficking during inflammatory response|leucocyte trafficking during inflammatory response|immune cell migration during inflammatory response|leukocyte trafficking during inflammatory response owl:Class GO:0050900 biolink:NamedThing leukocyte migration The movement of a leukocyte within or between different tissues and organs of the body. tmpte7i6ely_mondo_relaxed.owl leucocyte migration|leukocyte trafficking|leucocyte trafficking|immune cell migration|immune cell trafficking owl:Class MONDO:0004649 biolink:NamedThing anaerobic pneumonia A pneumonia caused by anaerobic bacteria. tmpte7i6ely_mondo_relaxed.owl pneumonia caused by anaerobic bacteria|pneumonia due to anaerobes|pneumonia due to anaerobic bacteria UMLS:C1443976|ICD9:482.89|DOID:873|ICD9:482.81|SCTID:409664000 owl:Class MONDO:0011806 biolink:NamedThing osteofibrous dysplasia A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases. tmpte7i6ely_mondo_relaxed.owl osteofibrous dysplasia|ossifying fibroma of long bones|cortical fibrous dysplasia|tibia, bowing of, with pseudarthrosis and pectus excavatum|OSFD|osteofibrous dysplasia of bone|osteofibrous dysplasia, susceptibility to|Kempson-Campanacci lesion|OFD Orphanet:488265|UMLS:C1709353|OMIM:607278|MESH:C563787|NCIT:C53970|UMLS:C1836723|MESH:C563276|OMIM:609143 owl:Class MONDO:0032936 biolink:NamedThing myopathy, congenital, with respiratory insufficiency and bone fractures tmpte7i6ely_mondo_relaxed.owl MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES|MYORIBF OMIM:618822 owl:Class UBERON:0005971 biolink:NamedThing amniotic fold tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000478 biolink:NamedThing extraembryonic structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010512 biolink:NamedThing intellectual disability, X-linked, syndromic, bain type tmpte7i6ely_mondo_relaxed.owl MRXSB|mental retardation, X-linked, syndromic, bain type|intellectual disability, X-linked, syndromic, bain type OMIM:300986|UMLS:C4310814 owl:Class MONDO:0003932 biolink:NamedThing childhood optic nerve glioma A glioma affecting the optic tract and occurring in childhood. tmpte7i6ely_mondo_relaxed.owl glioma of childhood visual pathway|pediatric optic tract glioma|glioma of pediatric visual pathway|pediatric visual pathway glioma|visual pathway glioma|childhood optic tract glioma|visual pathway and hypothalamic glioma, childhood|pediatric optic nerve glioma|glioma of the childhood visual pathway|optic nerve glioma of childhood|glioma of the pediatric visual pathway|childhood visual pathway glioma NCIT:C7535|DOID:6576|MESH:D020339|GARD:0009309 owl:Class MONDO:0021079 biolink:NamedThing childhood neoplasm A benign or malignant neoplasm arising during childhood. tmpte7i6ely_mondo_relaxed.owl childhood tumor|childhood neoplasm (disease)|childhood neoplasm|pediatric tumor|pediatric neoplasm (disease)|pediatric neoplasm|neoplasm (disease) of childhood NCIT:C6283 owl:Class MONDO:0000648 biolink:NamedThing nervous system benign neoplasm Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). tmpte7i6ely_mondo_relaxed.owl nervous system neoplasm, benign|benign tumor of the nervous system|benign nervous system tumor|benign neoplasm of nervous system|benign tumor of nervous system|benign nervous system neoplasm|benign neoplasm of the nervous system|nervous system benign neoplasm UMLS:C0497550|ICD9:225.8|NCIT:C4789|ICD9:225.9|DOID:0060115|SCTID:92247009 owl:Class MONDO:0021248 biolink:NamedThing nervous system neoplasm A neoplasm (disease) that involves the nervous system. tmpte7i6ely_mondo_relaxed.owl nervous system tumor|neoplasm of the nervous system|tumor of nervous system|nervous system neoplasm (disease)|tumor of the nervous system|neoplasm of nervous system|nervous system tumour|nervous system neoplasms NCIT:C3268 owl:Class HP:0004329 biolink:NamedThing Abnormal posterior eye segment morphology tmpte7i6ely_mondo_relaxed.owl Abnormality of the posterior segment of the eyeball|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the globe UMLS:C4025354 The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. peter 2008-02-27T04:25:00Z human_phenotype owl:Class HP:0012372 biolink:NamedThing Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. tmpte7i6ely_mondo_relaxed.owl Abnormal eye structure|Abnormally shaped eye|Abnormality of the globe Fyler:4863|UMLS:C4022925 previously: Abnormal globe morphology peter 2013-10-13T03:44:43Z HP:0012374|HP:0000489 human_phenotype owl:Class MONDO:0001257 biolink:NamedThing retinal microaneurysm tmpte7i6ely_mondo_relaxed.owl SCTID:34037000|ICD9:362.14|UMLS:C0154834|DOID:11295 Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265 owl:Class MONDO:0004457 biolink:NamedThing maxillary sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpte7i6ely_mondo_relaxed.owl Schneiderian papilloma of the maxillary sinus|maxillary sinus Schneiderian papilloma|maxillary sinus paranasal sinus Schneiderian papilloma|Schneiderian papilloma of maxillary sinus|paranasal sinus Schneiderian papilloma of maxillary sinus NCIT:C6839|DOID:8093|UMLS:C1334646 owl:Class MONDO:0006353 biolink:NamedThing paranasal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. tmpte7i6ely_mondo_relaxed.owl paranasal sinus Schneiderian papilloma|Schneiderian papilloma of paranasal sinus|Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of accessory sinus|Schneiderian papilloma of the accessory sinus|accessory sinus Schneiderian papilloma NCIT:C6835|EFO:1000455|UMLS:C1335343 owl:Class MONDO:0024335 biolink:NamedThing retrobulbar neuritis tmpte7i6ely_mondo_relaxed.owl SCTID:230507009 owl:Class MONDO:0005885 biolink:NamedThing optic neuritis Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. tmpte7i6ely_mondo_relaxed.owl SCTID:66760008|NCIT:C84950|ICD9:377.30|ICD9:377.39|ICD9:377.3|ICD10:H46.9|ICD10:H46|EFO:0007405|GARD:0007320|DOID:1210|MESH:D009902 https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis owl:Class MONDO:0005772 biolink:NamedThing geotrichosis Infection due to the fungus Geotrichum. tmpte7i6ely_mondo_relaxed.owl SCTID:13969006|EFO:0007284|ICD10:B48.3|UMLS:C0017455|MESH:D005847|DOID:2832|ICD9:117.9 owl:Class MONDO:0007742 biolink:NamedThing 5-hydroxytryptamine oxygenase regulator tmpte7i6ely_mondo_relaxed.owl HTOR|5-hydroxytryptamine oxygenase regulator|5-HYDROXYTRYPTAMINE oxygenase regulator OMIM:143460 owl:Class UBERON:0001103 biolink:NamedThing diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003831 biolink:NamedThing respiratory system muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009014 biolink:NamedThing lower back skin tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003836 biolink:NamedThing abdominal segment skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008667 biolink:NamedThing von Hippel-Lindau disease Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. tmpte7i6ely_mondo_relaxed.owl familial cerebelloretinal angiomatosis|cerebroretinal angiomatosis|Von Hippel-Lindau syndrome|Lindau disease|VHL|VON Hippel-Lindau syndrome|Von Hippel-Lindau syndrome (VHL)|von Hippel-Lindau syndrome|von Hippel-Lindau disease|Hippel Lindau syndrome|VHL syndrome|Von Hippel-Lindau syndrome, Modifiers of|Von Hippel Lindau disease Orphanet:892|MESH:D006623|MedDRA:10047716|GARD:0007855|ICD10:Q85.8|OMIM:193300|ICD9:759.6|UMLS:C0019562|SCTID:46659004|NCIT:C3105|DOID:14175 https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease owl:Class MONDO:0042983 biolink:NamedThing neurocutaneous syndrome A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. tmpte7i6ely_mondo_relaxed.owl syndromes, neuroectodermal dysplasia|neuroectodermal dysplasia syndromes|neurocutaneous disorders|neurocutaneous syndrome|neuroectodermal dysplasia|syndrome, neuroectodermal dysplasia|Phacomatosis|syndromes, neurocutaneous|syndrome, neurocutaneous|neurocutaneous disorder|Phakomatoses|phakomatosis|neuroectodermal dysplasia syndrome|Phacomatoses SCTID:78572006|UMLS:C0265316|MESH:D020752|NCIT:C84348 A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category owl:Class CL:0000005 biolink:NamedThing fibroblast neural crest derived Any fibroblast that is deriived from the neural crest. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:19661 biolink:NamedThing TNNI3K tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033003 biolink:NamedThing regulation of mast cell activation Any process that modulates the frequency, rate, or extent of mast cell activation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002694 biolink:NamedThing regulation of leukocyte activation Any process that modulates the frequency, rate, or extent of leukocyte activation. tmpte7i6ely_mondo_relaxed.owl regulation of immune cell activation|regulation of leucocyte activation owl:Class NCBITaxon:1980490 biolink:NamedThing Seoul orthohantavirus tmpte7i6ely_mondo_relaxed.owl epidemic hemorrhagic fever virus|Seoul virus|Seoul hantavirus GC_ID:1 NCBITaxon:11608 ncbi_taxonomy owl:Class GO:0061035 biolink:NamedThing regulation of cartilage development Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012654 biolink:NamedThing atrial septal defect 4 Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene. tmpte7i6ely_mondo_relaxed.owl atrial heart septal defect type 4|TBX20 atrial heart septal defect|atrial heart septal defect caused by mutation in TBX20|atrial septal defect type 4|ASD4|atrial septal defect 4 UMLS:C1969657|OMIM:611363|DOID:0110109|MESH:C566963|ICD10:Q21.1|Orphanet:1478 owl:Class UBERON:0004224 biolink:NamedThing muscular coat of vas deferens tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007459 biolink:NamedThing dilution, pigmentary tmpte7i6ely_mondo_relaxed.owl dilution, pigmentary|hypopigmentation|hypomelanotic disorder|Albinoidism, oculocutaneous, autosomal dominant|albinism, partial GARD:0006731|SCTID:23006000|UMLS:C1876214|OMIM:126070 owl:Class CL:0000047 biolink:NamedThing neuronal stem cell Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. tmpte7i6ely_mondo_relaxed.owl NSC|neural stem cell CALOHA:TS-2360|FMA:86684|BTO:0002881 cell owl:Class CHEBI:16670 biolink:NamedThing peptide Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. tmpte7i6ely_mondo_relaxed.owl peptides|Peptid|peptidos|peptido|Peptide owl:Class CHEBI:50047 biolink:NamedThing organic amino compound A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. tmpte7i6ely_mondo_relaxed.owl organic amino compounds owl:Class CHEBI:61313 biolink:NamedThing C21-steroid A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. tmpte7i6ely_mondo_relaxed.owl a C21-steroid owl:Class CHEBI:35341 biolink:NamedThing steroid Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids.|Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene. tmpte7i6ely_mondo_relaxed.owl steroids|Steroid|a steroid owl:Class MONDO:0011327 biolink:NamedThing neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. tmpte7i6ely_mondo_relaxed.owl neuronal intranuclear inclusion disease|neuronal intranuclear hyaline inclusion disease|Niid NCIT:C122655|OMIM:603472|MESH:C537395|SCTID:715437003|ICD10:G31.0|UMLS:C1863843|Orphanet:2289|GARD:0003971 https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease owl:Class HP:0011545 biolink:NamedThing Abnormal connection of the cardiac segments A deviance in the normal connections between two cardiac segements. tmpte7i6ely_mondo_relaxed.owl Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments UMLS:C4023306 peter 2012-04-07T11:24:25Z human_phenotype owl:Class HP:0001627 biolink:NamedThing Abnormal heart morphology Any structural anomaly of the heart. tmpte7i6ely_mondo_relaxed.owl Cardiac anomaly|Abnormally shaped heart|Cardiac abnormality|Cardiac anomalies|Abnormality of the heart|Congenital heart defects|Congenital heart defect|Abnormality of cardiac morphology|Heart defect UMLS:C0152021|UMLS:C0018798|MSH:D006330|SNOMEDCT_US:13213009 HP:3000001 human_phenotype owl:Class MONDO:0024857 biolink:NamedThing immature extragonadal teratoma An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpte7i6ely_mondo_relaxed.owl extragonadal primary malignant teratoma|primary malignant extragonadal teratoma|immature extragonadal teratoma|malignant extragonadal teratoma UMLS:C0855163|NCIT:C8884 owl:Class MONDO:0003578 biolink:NamedThing extragonadal nonseminomatous germ cell tumor A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpte7i6ely_mondo_relaxed.owl extragonadal non-seminomatous germ cell cancer|malignant tumor of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell tumor|malignant neoplasm of the extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell neoplasm|cancer of extragonadal non-seminomatous germ cell|primary malignant extragonadal Nonseminoma|malignant neoplasm of extragonadal non-seminomatous germ cell|cancer of the extragonadal non-seminomatous germ cell|malignant tumor of the extragonadal non-seminomatous germ cell|malignant extragonadal Nonseminoma|extragonadal primary Nonseminoma NCIT:C8885|DOID:5677|UMLS:C1334582 owl:Class GO:0006935 biolink:NamedThing chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpte7i6ely_mondo_relaxed.owl taxis in response to chemical stimulus owl:Class GO:0042330 biolink:NamedThing taxis The directed movement of a motile cell or organism in response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl directed movement in response to stimulus owl:Class CL:0010006 biolink:NamedThing cardiac blood vessel endothelial cell tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000071 biolink:NamedThing blood vessel endothelial cell An endothelial cell that lines the vasculature. tmpte7i6ely_mondo_relaxed.owl cuboidal endothelial cell of vascular tree cell owl:Class ECTO:9000409 biolink:NamedThing exposure to salt An exposure to salt. tmpte7i6ely_mondo_relaxed.owl exposure to salt owl:Class NCBITaxon:287 biolink:NamedThing Pseudomonas aeruginosa tmpte7i6ely_mondo_relaxed.owl Bacterium pyocyaneum|Pseudomonas pyocyanea|Bacterium aeruginosum|Pseudomonas polycolor|Micrococcus pyocyaneus|Bacillus aeruginosus|Bacillus pyocyaneus|probable synonym or variety: "Pseudomonas polycolor" Clara 1930 GC_ID:11 NCBITaxon:1683559|NCBITaxon:1607813|NCBITaxon:1437768|NCBITaxon:931955|NCBITaxon:931956|NCBITaxon:1224290|NCBITaxon:1683561|NCBITaxon:1437769|NCBITaxon:1860124|NCBITaxon:931958|NCBITaxon:1437770|NCBITaxon:1851858|NCBITaxon:665948|NCBITaxon:1851865|NCBITaxon:1607811|NCBITaxon:1508364|NCBITaxon:932477|NCBITaxon:912077|NCBITaxon:931957 ncbi_taxonomy owl:Class NCBITaxon:136841 biolink:NamedThing Pseudomonas aeruginosa group tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:2172 biolink:NamedThing CNTN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023910 biolink:NamedThing Martsolf syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:212720 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0048875 biolink:NamedThing chemical homeostasis within a tissue Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001894 biolink:NamedThing tissue homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. tmpte7i6ely_mondo_relaxed.owl tissue maintenance owl:Class MONDO:0011977 biolink:NamedThing 8q22.1 microdeletion syndrome The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. tmpte7i6ely_mondo_relaxed.owl chromosome 8Q22.1 deletion syndrome|NABLUS mask-like facial syndrome|monosomy 8q22.1|Nablus mask-like facial syndrome|NMLFS MESH:C536110|SCTID:719664004|OMIM:608156|UMLS:C1842464|Orphanet:178303|GARD:0004722|ICD10:Q93.5 owl:Class GO:0043933 biolink:NamedThing protein-containing complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. tmpte7i6ely_mondo_relaxed.owl protein complex subunit organization|protein complex subunit organisation|cellular macromolecular complex subunit organization|macromolecular complex subunit organization|cellular macromolecular complex organization|macromolecular complex organization|cellular macromolecular complex subunit organisation|macromolecular complex subunit organisation owl:Class GO:0016043 biolink:NamedThing cellular component organization A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpte7i6ely_mondo_relaxed.owl cellular component organisation at cellular level|cellular component organisation in other organism|cell organization and biogenesis|cell organisation|cellular component organization in other organism|cellular component organization at cellular level owl:Class MONDO:0032753 biolink:NamedThing spastic ataxia 9, autosomal recessive tmpte7i6ely_mondo_relaxed.owl SPAX9|SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE OMIM:618438 owl:Class MONDO:0017845 biolink:NamedThing spastic ataxia tmpte7i6ely_mondo_relaxed.owl SPAX Orphanet:316226|ICD10:G11.4|MESH:C564815|DOID:0050952|UMLS:C1849156|OMIMPS:108600 owl:Class MONDO:0001632 biolink:NamedThing intracranial arteriosclerosis Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis. tmpte7i6ely_mondo_relaxed.owl UMLS:C0007771|MESH:D002537|DOID:13097 owl:Class MONDO:0002277 biolink:NamedThing arteriosclerosis disorder A vascular disorder characterized by thickening and hardening of the walls of the arteries. tmpte7i6ely_mondo_relaxed.owl arteriosclerotic cardiovascular disease|vascular sclerosis|cardiovascular arteriosclerosis|arteriosclerotic vascular disease|arterial sclerosis|arteriosclerosis EFO:0009086|UMLS:C0003850|DOID:2348|NCIT:C35768|ICD10:I70|DOID:2349|MESH:D050197|NCIT:C34398|UMLS:C3665365|NCIT:C34403|CSP:0571-2299|NCIT:C35771|HP:0002634|ICD9:440|MESH:D001161|SCTID:72092001|ICD10:I25.1 owl:Class CL:2000033 biolink:NamedThing limb basal cell of epidermis Any basal cell of epidermis that is part of a limb. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-25T02:28:25Z cell owl:Class GO:0051245 biolink:NamedThing negative regulation of cellular defense response Any process that stops, prevents, or reduces the rate of the cellular defense response. tmpte7i6ely_mondo_relaxed.owl inhibition of cellular defense response|negative regulation of cellular defence response|down-regulation of cellular defense response|downregulation of cellular defense response|down regulation of cellular defense response owl:Class MONDO:0025511 biolink:NamedThing inherited neuroendocrine tumor An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary neuroendocrine neoplasm|genetic neuroendocrine tumor Orphanet:271847|UMLS:CN202530 owl:Class ENVO:01001125 biolink:NamedThing ice An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012996 biolink:NamedThing AGAT deficiency L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. tmpte7i6ely_mondo_relaxed.owl cerebral creatine deficiency syndrome type 3|AGAT deficiency|cerebral creatine deficiency syndrome 3|L-arginine:glycine amidinotransferase deficiency|GATM deficiency|CCDS3|arginine:glycine amidinotransferase deficiency|creatine deficiency syndrome due to AGAT deficiency|disorder of glycine amidinotransferase activity|glycine amidinotransferase activity disease ICD10:E72.8|DOID:0050712|ICD9:270.8|MESH:C567192|Orphanet:35704|SCTID:702440000|OMIM:612718|GARD:0010323|UMLS:C2675179 owl:Class MONDO:0045018 biolink:NamedThing creatine biosynthetic process disease A disease that has its basis in the disruption of creatine biosynthetic process. tmpte7i6ely_mondo_relaxed.owl disorder of creatine synthesis|creatine synthesis disease|disorder of creatine biosynthetic process SCTID:297226004|UMLS:C0574079 owl:Class MONDO:0010125 biolink:NamedThing upper limb defect-eye and ear abnormalities syndrome Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. tmpte7i6ely_mondo_relaxed.owl thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness ICD10:Q87.8|Orphanet:2489|MESH:C564769|OMIM:274205|UMLS:C1848816 owl:Class GO:0042488 biolink:NamedThing positive regulation of odontogenesis of dentin-containing tooth Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpte7i6ely_mondo_relaxed.owl stimulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|upregulation of odontogenesis|up-regulation of odontogenesis|activation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|up regulation of odontogenesis owl:Class GO:0042482 biolink:NamedThing positive regulation of odontogenesis Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. tmpte7i6ely_mondo_relaxed.owl positive regulation of tooth development|up regulation of odontogenesis|stimulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|upregulation of odontogenesis|up-regulation of odontogenesis|activation of odontogenesis owl:Class MONDO:0003518 biolink:NamedThing mediastinum teratoma A teratoma that involves the mediastinum. tmpte7i6ely_mondo_relaxed.owl teratoma of mediastinum|mediastinum teratoma DOID:5568|NCIT:C6438|UMLS:C1334682 owl:Class MONDO:0020539 biolink:NamedThing extragonadal non-dysgerminomatous germ cell tumor tmpte7i6ely_mondo_relaxed.owl UMLS:CN207440|Orphanet:99913 owl:Class MONDO:0009419 biolink:NamedThing Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. tmpte7i6ely_mondo_relaxed.owl woodhouse Sakati syndrome|Woodhouse-Sakati syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|woodhouse-Sakati syndrome|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities UMLS:C0342286|Orphanet:3464|ICD10:Q87.8|ICD9:759.89|OMIM:241080|MESH:C536742|SCTID:237616002|GARD:0005592 https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome owl:Class FOODON:00003194 biolink:NamedThing vegetarian food product A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet). tmpte7i6ely_mondo_relaxed.owl vegetarian food 2019-09-11 21:12:43+00:00 https://en.wikipedia.org/wiki/Vegetarian_cuisine owl:Class FOODON:00001002 biolink:NamedThing food product Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051251 biolink:NamedThing positive regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. tmpte7i6ely_mondo_relaxed.owl up regulation of lymphocyte activation|stimulation of lymphocyte activation|activation of lymphocyte activation|up-regulation of lymphocyte activation|upregulation of lymphocyte activation owl:Class MONDO:0012073 biolink:NamedThing ribose-5-P isomerase deficiency Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. tmpte7i6ely_mondo_relaxed.owl ribose 5-phosphate isomerase deficiency SCTID:124667004|MESH:C563212|ICD9:277.6|OMIM:608611|Orphanet:440706|UMLS:C1291609 owl:Class UBERON:0004867 biolink:NamedThing orbital cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002553 biolink:NamedThing anatomical cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015704 biolink:NamedThing familial scaphocephaly syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:169163|ICD10:Q75.0|MedDRA:10072229 owl:Class MONDO:0015338 biolink:NamedThing syndromic craniosynostosis A craniosynostosis that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with craniosynostosis|syndromic craniosynostosis Orphanet:139393|UMLS:CN226660 owl:Class HsapDv:0000138 biolink:NamedThing 44-year-old human stage Adult stage that refers to an adult who is over 44 and under 45. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000000 biolink:NamedThing human life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpte7i6ely_mondo_relaxed.owl stage|developmental stage owl:Class NCBITaxon:2704949 biolink:NamedThing Trypanosomatida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2704647 biolink:NamedThing Metakinetoplastina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0002027 biolink:NamedThing osmolality tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000033 biolink:NamedThing concentration of A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. tmpte7i6ely_mondo_relaxed.owl concentration owl:Class UBERON:0003383 biolink:NamedThing cardiac muscle tissue of interventricular septum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004667 biolink:NamedThing interventricular septum muscular part tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021446 biolink:NamedThing benign neoplasm of epiglottis A benign neoplasm that involves the epiglottis. tmpte7i6ely_mondo_relaxed.owl benign epiglottic tumor|benign tumor of the Epiglottis|benign neoplasm of the Epiglottis|benign Epiglottis tumor|benign Epiglottis neoplasm|benign tumor of Epiglottis|epiglottis benign neoplasm|benign epiglottic neoplasm NCIT:C4606|UMLS:C0347236|SCTID:92089006 owl:Class MONDO:0013826 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 86 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 86|autosomal recessive deafness 86|deafness, autosomal recessive 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24|autosomal recessive nonsyndromic deafness type 86|TBC1D24 autosomal recessive nonsyndromic deafness|DFNB86|deafness, autosomal recessive type 86 DOID:0110532|UMLS:C2829265|OMIM:614617|Orphanet:90636|ICD10:H90.3 owl:Class MONDO:0033563 biolink:NamedThing retinitis pigmentosa 90 tmpte7i6ely_mondo_relaxed.owl RP90|RETINITIS PIGMENTOSA 90 OMIM:619007 owl:Class UBERON:0003610 biolink:NamedThing heart elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002521 biolink:NamedThing elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11791 biolink:NamedThing TCHH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034719 biolink:NamedThing lip taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50183 biolink:NamedThing P450 inhibitor An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances. tmpte7i6ely_mondo_relaxed.owl CYP2D6 inhibitor|cytochrome P450 inhibitors|CYP2D6 inhibitors|CYP2D6 inhbitors|CYP2D6 inhbitor|P450 inhibitors|cytochrome P450 inhibitor owl:Class CHEBI:76898 biolink:NamedThing EC 1.14.14.1 (unspecific monooxygenase) inhibitor An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1). tmpte7i6ely_mondo_relaxed.owl xenobiotic monooxygenase inhibitor|unspecific monooxygenase inhibitors|unspecific monooxygenase (EC 1.14.14.1) inhibitor|flavoprotein-linked monooxygenase inhibitors|aryl-4-monooxygenase inhibitors|unspecific monooxygenase (EC 1.14.14.1) inhibitors|flavoprotein monooxygenase inhibitor|EC 1.14.14.1 inhibitors|EC 1.14.14.1 inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitors|microsomal monooxygenase inhibitors|flavoprotein monooxygenase inhibitors|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitor|aryl hydrocarbon hydroxylase inhibitor|microsomal P-450 inhibitor|aryl hydrocarbon hydroxylase inhibitors|microsomal P-450 inhibitors|EC 1.14.14.1 (unspecific monooxygenase) inhibitors|xenobiotic monooxygenase inhibitors|flavoprotein-linked monooxygenase inhibitor|microsomal monooxygenase inhibitor|unspecific monooxygenase inhibitor|aryl-4-monooxygenase inhibitor owl:Class MONDO:0008368 biolink:NamedThing autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. tmpte7i6ely_mondo_relaxed.owl renal tubular acidosis, distal, autosomal dominant|autosomal dominant SLC4A1-associated distal renal tubular acidosis|RTA, classic type|autosomal dominant distal renal tubular acidosis (disease)|renal tubular acidosis 1|RTA, gradient type|RTA, distal type, autosomal dominant|distal renal tubular acidosis (disease), autosomal dominant|AD dRTA Orphanet:93608|OMIM:179800|Orphanet:18|GARD:0004668|ICD10:N25.8 owl:Class MONDO:0016723 biolink:NamedThing pineocytoma Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. tmpte7i6ely_mondo_relaxed.owl pineocytoma (disease)|benign pinealoma|pinealocytoma|Pineocytoma (WHO grade I)|pineocytoma|pineocytoma, benign pineocytoma (disease) EFO:1000476|GARD:0008207|ONCOTREE:PINC|MedDRA:10035059|Orphanet:251912|UMLS:C0917890|ICD10:D44.5|ICDO:9361/1|HP:0030407|SCTID:255045009|NCIT:C6966 owl:Class MONDO:0024890 biolink:NamedThing pineal parenchymal cell neoplasm A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.) tmpte7i6ely_mondo_relaxed.owl tumor of the pineal gland|pineocytic neoplasm|pineocytic tumor|pineal parenchymal cell tumor|neoplasm of the pineal gland|tumor of pineal gland|neoplasm of pineal gland|pineal gland neoplasm|pineal parenchymal cell neoplasm|pineal parenchymal tumor|pineal parenchymal neoplasm|pineal gland tumor ICDO:9360/1|UMLS:C0031941|NCIT:C6965 owl:Class MONDO:0016354 biolink:NamedThing xeroderma pigmentosum-Cockayne syndrome complex Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). tmpte7i6ely_mondo_relaxed.owl XP/CS complex OMIM:610651|OMIM:278730|OMIM:278760|OMIM:278780|ICD10:Q82.1|ICD10:Q87.1|Orphanet:220295|UMLS:CN201205 owl:Class MONDO:0021257 biolink:NamedThing glomus jugulare neoplasm A neoplasm (disease) that involves the jugular body. tmpte7i6ely_mondo_relaxed.owl jugular body neoplasm (disease)|jugular body neoplasm|jugular body tumor|neoplasm of jugular body|tumor of jugular body NCIT:C3061 Editor note: consider merging with jugulotympanic paraganglioma owl:Class MONDO:0021080 biolink:NamedThing blood vessel neoplasm A neoplasm arising from arteries or veins. tmpte7i6ely_mondo_relaxed.owl blood vessel neoplasm (disease)|tumor of blood vessel|blood vessel tumor|neoplasm of blood vessel|blood vessel neoplasm NCIT:C7387|SCTID:126736007 owl:Class MONDO:0011533 biolink:NamedThing temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. tmpte7i6ely_mondo_relaxed.owl temtamy preaxial brachydactyly syndrome|preaxial brachydactyly syndrome, Temtamy type|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|TPBS|TEMTAMY preaxial brachydactyly syndrome|preaxial brachydactyly syndrome, TEMTAMY type OMIM:605282|MESH:C536958|UMLS:C1854466|GARD:0009679|Orphanet:363417|DOID:0050814|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome owl:Class MONDO:0017742 biolink:NamedThing disorder of O-xylosylglycan synthesis tmpte7i6ely_mondo_relaxed.owl UMLS:CN227189|ICD10:E77.8|Orphanet:309450 owl:Class MONDO:0005896 biolink:NamedThing Paramyxoviridae infectious disease Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections. tmpte7i6ely_mondo_relaxed.owl Paramyxoviridae caused disease or disorder|Paramyxoviridae disease or disorder EFO:0007419|MESH:D018184 owl:Class GO:0051146 biolink:NamedThing striated muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. tmpte7i6ely_mondo_relaxed.owl voluntary muscle cell differentiation owl:Class GO:0042692 biolink:NamedThing muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. tmpte7i6ely_mondo_relaxed.owl myogenesis owl:Class MONDO:0005006 biolink:NamedThing clear cell sarcoma of kidney A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. tmpte7i6ely_mondo_relaxed.owl childhood clear cell sarcoma of the kidney|pediatric kidney clear cell sarcoma|clear cell sarcoma of kidney|pediatric renal clear cell sarcoma|renal clear cell sarcoma|kidney clear cell sarcoma|childhood kidney clear cell sarcoma|CCSK|clear cell sarcoma of the kidney|clear cell sarcoma - kidney|childhood renal clear cell sarcoma ONCOTREE:CCSK|UMLS:CN242113|ICD10:C64|Orphanet:457246|EFO:0000350|ICDO:8964/3|UMLS:C0334488|DOID:4880|NCIT:C4264 owl:Class MONDO:0010295 biolink:NamedThing anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. tmpte7i6ely_mondo_relaxed.owl ol-EDA-ID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|OLEDAID OMIM:300301|Orphanet:69088|SCTID:720986005|ICD10:Q78.2|MESH:C564538 owl:Class MONDO:0005846 biolink:NamedThing microsporidiosis A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. tmpte7i6ely_mondo_relaxed.owl infection by Microspora|Microsporidia infection|Microsporidia infectious disease|Microsporidiasis|Microsporidia disease or disorder|Microsporidia caused disease or disorder|infection by Microsporida|infection by Microsporea Orphanet:2552|ICD9:117.9|ICD10:B60.8|NCIT:C84891|EFO:0007366|SCTID:699676006|GARD:0003655|UMLS:C0085407|MedDRA:10053982|DOID:4271|MESH:D016881 https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis owl:Class UBERON:5103635 biolink:NamedThing pedal digit 5 digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5101466 biolink:NamedThing pedal digit digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:62732 biolink:NamedThing aromatic ester An ester where the ester linkage is bonded directly to an aromatic system. tmpte7i6ely_mondo_relaxed.owl aromatic esters owl:Class CHEBI:33659 biolink:NamedThing organic aromatic compound tmpte7i6ely_mondo_relaxed.owl organic aromatic compounds owl:Class MONDO:0009247 biolink:NamedThing frontofacionasal dysplasia Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). tmpte7i6ely_mondo_relaxed.owl Frontofacionasal dysostosis|fronto-facio-nasal dysostosis|Gollop syndrome|Ffnd|frontofacionasal dysplasia|fronto-facio-nasal dyplasia MESH:C538063|UMLS:C2931720|GARD:0002390|ICD10:Q75.8|OMIM:229400|SCTID:716022002|Orphanet:1791 https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia owl:Class GO:0062149 biolink:NamedThing detection of stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0008019 biolink:NamedThing mesenchymal cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. tmpte7i6ely_mondo_relaxed.owl mesenchyme cell owl:Class CL:0000219 biolink:NamedThing motile cell A cell that moves by its own activities. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0007278 biolink:NamedThing cataract 32 multiple types A cataract that has material basis in mutation in the region 14q22-q23. tmpte7i6ely_mondo_relaxed.owl cataract, anterior polar|CTAA1|CTPP5|cataract 32, multiple types|cataract, anterior polar, 1|anterior polar cataract 1|CTRCT32|cataract, posterior polar, 5|posterior polar cataract 5 OMIM:115650|DOID:0110227|Orphanet:98993|Orphanet:91492|ICD10:Q12.0|Orphanet:98988 Links to OMIM series but not listed. owl:Class OBO:CHR_9606-chr17q11.2 biolink:NamedThing 17q11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 33500000 27400000 hg38 owl:Class UBERON:0004787 biolink:NamedThing urethra urothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060664 biolink:NamedThing neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities|NEDMCR UMLS:CN889218|OMIM:617913 owl:Class MONDO:0004699 biolink:NamedThing gastrointestinal lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. tmpte7i6ely_mondo_relaxed.owl digestive system lymphoma|gastrointestinal lymphoma|primary gastrointestinal lymphoma|lymphoma of digestive system|primary digestive system lymphoma UMLS:C0740372|SCTID:449072004|DOID:903|NCIT:C38162|ICD9:202.80 owl:Class MONDO:0018999 biolink:NamedThing LCAT deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. tmpte7i6ely_mondo_relaxed.owl lecithin-cholesterol acyltransferase deficiency ICD10:E78.6|Orphanet:650|OMIM:245900|OMIM:136120|SCTID:49227001 owl:Class MONDO:0002603 biolink:NamedThing angiomyolipoma A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. tmpte7i6ely_mondo_relaxed.owl angiomyolipoma (morphologic abnormality) ICDO:8860/0|GARD:0012024|DOID:3314|MESH:D018207|UMLS:C0206633|NCIT:C3734 owl:Class MONDO:0006359 biolink:NamedThing neoplasm with perivascular epithelioid cell differentiation A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. tmpte7i6ely_mondo_relaxed.owl neoplasm with perivascular epithelioid cell differentiation|tumor with perivascular epithelioid cell differentiation|PEComa|perivascular epithelioid cell tumor DOID:2643|UMLS:C1300127|EFO:1000464|NCIT:C38150|ONCOTREE:PECOMA|ICD10:D21.9|Orphanet:595133|MESH:D054973 MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). owl:Class MONDO:0010558 biolink:NamedThing choroideremia-deafness-obesity syndrome Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. tmpte7i6ely_mondo_relaxed.owl choroideremia deafness obesity|choroideremia, deafness, and mental retardation|choroideremia, deafness, and intellectual disability|choroideremia, obesity, and congenital deafness|chromosome Xq21 deletion syndrome|Ayazi syndrome OMIM:303110|UMLS:C1844836|MESH:C537793|Orphanet:1435|ICD10:Q87.8|GARD:0000369|SCTID:717761005 owl:Class MONDO:0012913 biolink:NamedThing Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. tmpte7i6ely_mondo_relaxed.owl Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|chromosome 11P13-p12 deletion syndrome|WAGRO|Wagro syndrome|WAGR syndrome with obesity|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome NCIT:C122804|OMIM:612469|MESH:C567292|UMLS:C2675904|Orphanet:893 owl:Class MONDO:0008681 biolink:NamedThing WAGR syndrome WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. tmpte7i6ely_mondo_relaxed.owl WAGR syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|WAGR Complex|chromosome 11p deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|11p monosomy|Del(11)(p13)|AGR triad|deletion 11p13|11p deletion|deletion 11p|chromosome 11P13 deletion syndrome|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|11p deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|chromosome 11p deletion|11p partial monosomy syndrome|chromosome 11p13 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|partial monosomy 11p|monosomy 11p13|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|WAGR|monosomy 11p|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome GARD:0001732|Orphanet:893|OMIM:194072|ICD10:Q87.8|SCTID:715215007|GARD:0005528|DOID:14515|OMIM:612469|UMLS:C0206115|UMLS:C2931803|MESH:D017624|NCIT:C3718 https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome owl:Class MONDO:0014714 biolink:NamedThing progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. tmpte7i6ely_mondo_relaxed.owl seizures, cortical blindness, and microcephaly syndrome|seizures, cortical blindness, microcephaly syndrome|SCBMS OMIM:616632|Orphanet:477814|UMLS:C4225261 owl:Class MONDO:0021249 biolink:NamedThing lip neoplasm A neoplasm (disease) that involves the lip. tmpte7i6ely_mondo_relaxed.owl lip neoplasms|lip neoplasm (disease)|tumor of Lip|neoplasm of lip|neoplasm of the Lip|lip tumor|neoplasm of Lip|tumor of lip|tumor of the Lip SCTID:126770008|NCIT:C3191 owl:Class GO:0009913 biolink:NamedThing epidermal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. tmpte7i6ely_mondo_relaxed.owl hypodermal cell differentiation owl:Class GO:0030855 biolink:NamedThing epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9000107 biolink:NamedThing exposure to solvent An exposure to solvent. tmpte7i6ely_mondo_relaxed.owl exposure to solvent owl:Class NCBITaxon:10405 biolink:NamedThing Orthohepadnavirus tmpte7i6ely_mondo_relaxed.owl mammalian hepatitis B-type viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10404 biolink:NamedThing Hepadnaviridae tmpte7i6ely_mondo_relaxed.owl hepatitis B-type viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006297 biolink:NamedThing maxillary sinus adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the maxillary sinus|adenoid cystic carcinoma of maxillary sinus NCIT:C6239|DOID:7198|UMLS:C1334643|EFO:1000365 owl:Class UBERON:0001676 biolink:NamedThing occipital bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011164 biolink:NamedThing neurocranium bone tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010955 biolink:NamedThing negative regulation of protein processing Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. tmpte7i6ely_mondo_relaxed.owl negative regulation of protein maturation by peptide bond cleavage owl:Class GO:1903318 biolink:NamedThing negative regulation of protein maturation Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation. tmpte7i6ely_mondo_relaxed.owl downregulation of protein maturation|down regulation of protein maturation|inhibition of protein maturation|down-regulation of protein maturation owl:Class GO:0045088 biolink:NamedThing regulation of innate immune response Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019963 biolink:NamedThing bronchial endocrine tumor A neuroendocrine neoplasm that involves the bronchus. tmpte7i6ely_mondo_relaxed.owl bronchus neuroendocrine neoplasm|bronchus neuroendocrine tumor|bronchial NET|neuroendocrine neoplasm of bronchus|bronchus NET|bronchial neuroendocrine tumor|bronchus neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:97287|ICD10:D38.1|UMLS:CN206886 owl:Class MONDO:0002807 biolink:NamedThing bronchial neoplasm Tumors or cancer of the bronchi. tmpte7i6ely_mondo_relaxed.owl tumor of bronchus|bronchial neoplasm (disease)|bronchial neoplasm|neoplasm of bronchus|bronchus tumor|bronchus neoplasm|bronchus neoplasm (disease) bronchial neoplasm (disease) SCTID:126705004|EFO:1000849|HP:0030077|MESH:D001984|UMLS:C0006264|DOID:3906 owl:Class MONDO:0020145 biolink:NamedThing developmental defect of the eye tmpte7i6ely_mondo_relaxed.owl Orphanet:98553 owl:Class MONDO:0000603 biolink:NamedThing autoimmune disorder of cardiovascular system A hypersensitivity reaction type II disease that involves the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl cardiovascular system autoimmune disease|cardiovascular system hypersensitivity reaction type II disease DOID:0060051 owl:Class MONDO:0007179 biolink:NamedThing autoimmune disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). tmpte7i6ely_mondo_relaxed.owl autoimmune disorder|autoimmune disease or disorder|disease, autoimmune|autoimmune disease|autoimmune hypersensitivity disease|hypersensitivity reaction type II disease EFO:0005140|UMLS:C0004364|OBI:1110054|ICD9:279.49|ICD9:279.4|OMIM:109100|OMIM:613551|DOID:417|MESH:D001327|ICD9:720|NCIT:C2889|OMIM:615952|SCTID:85828009 Editor note: check OMIM owl:Class CL:0002453 biolink:NamedThing oligodendrocyte precursor cell The cell type from which oligodendrocytes develop. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-11-10T02:51:34Z cell owl:Class CL:0000123 biolink:NamedThing neuron associated cell (sensu Vertebrata) tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0013719 biolink:NamedThing cranioectodermal dysplasia 4 tmpte7i6ely_mondo_relaxed.owl CED4|cranioectodermal dysplasia type 4|cranioectodermal dysplasia 4 OMIM:614378|Orphanet:1515|UMLS:C3280616 owl:Class GO:0106121 biolink:NamedThing positive regulation of cobalamin metabolic process Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014455 biolink:NamedThing cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl CAGSSS|cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia ICD10:Q87.8|OMIM:616007|Orphanet:436174|UMLS:C4014942 owl:Class CL:1000692 biolink:NamedThing kidney interstitial fibroblast tmpte7i6ely_mondo_relaxed.owl KUPO:0001102 cell owl:Class MONDO:0002602 biolink:NamedThing central nervous system disorder A disease involving the central nervous system. tmpte7i6ely_mondo_relaxed.owl CNS disorder|central nervous system disease or disorder|disorder of central nervous system|central nervous system disease|disease of central nervous system|central nervous disease|central nervous system disorder|disease or disorder of central nervous system|disease of the central nervous system MESH:D002493|UMLS:C0007682|DOID:331|ICD10:G96.9|SCTID:23853001|NCIT:C2934 owl:Class MONDO:0004474 biolink:NamedThing gallbladder lymphoma A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. tmpte7i6ely_mondo_relaxed.owl lymphoma of the gallbladder|gallbladder lymphoma|lymphoma of gall bladder|primary gallbladder lymphoma|lymphoma of gallbladder|gall bladder lymphoma NCIT:C5734|UMLS:C1333748|DOID:8135 owl:Class MONDO:0021045 biolink:NamedThing fibroepithelial neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. tmpte7i6ely_mondo_relaxed.owl fibroepithelial tumor|fibroepithelial neoplasm UMLS:C0206649|MESH:D018225|NCIT:C3743|EFO:0007271 owl:Class MONDO:0021043 biolink:NamedThing mixed neoplasm A neoplasm composed of at least two distinct cellular populations. tmpte7i6ely_mondo_relaxed.owl mixed neoplasm|mixed tumor MESH:D018193|NCIT:C6930|ICDO:8940/1 owl:Class HGNC:24912 biolink:NamedThing LARP7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011365 biolink:NamedThing blepharophimosis - intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|SBBYSS|Young-Simpson syndrome|Ohdo syndrome, SBBYS variant|blepharophimosis - intellectual disability syndrome, SBBYS type|Say-Barber-Biesecker-Young-Simpson syndrome OMIM:603736|ICD9:759.89|MESH:C536717|SCTID:699298009|DOID:0060290|Orphanet:3047|ICD10:Q87.8 owl:Class UBERON:0035553 biolink:NamedThing left cardiac chamber tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012816 biolink:NamedThing atrial fibrillation, familial, 6 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, type 6|atrial fibrillation, familial, 6|ATFB6|NPPA familial atrial fibrillation|familial atrial fibrillation caused by mutation in NPPA MESH:C567400|UMLS:C2677294|Orphanet:334|OMIM:612201 owl:Class MONDO:0018054 biolink:NamedThing familial atrial fibrillation An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. tmpte7i6ely_mondo_relaxed.owl autosomal dominant atrial fibrillation|atrial fibrillation autosomal dominant|hereditary atrial fibrillation (disease)|ATFB|atrial fibrillation, familial OMIM:611493|OMIM:613055|OMIM:611819|OMIM:613980|DOID:0050650|OMIM:615377|OMIM:614022|OMIM:614050|OMIM:607554|OMIM:615378|ICD10:I48.9|GARD:0009740|OMIM:613120|OMIM:608988|OMIM:608583|OMIM:614049|UMLS:CN204347|Orphanet:334|OMIM:612240|OMIMPS:608583|SCTID:715395008|OMIM:615770|OMIM:611494|OMIM:612201 Editor note: DO def states this as being in ATFB but this is not correct owl:Class MONDO:0005883 biolink:NamedThing ophthalmic herpes zoster Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. tmpte7i6ely_mondo_relaxed.owl Herpes zoster ophthalmicus (HZO)|herpes zoster ophthalmicus|HZO UMLS:C0019364|SCTID:87513003|ICD9:053.29|GARD:0009721|MESH:D006563|EFO:0007403 owl:Class MONDO:0019964 biolink:NamedThing thymic neuroendocrine tumor Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively. tmpte7i6ely_mondo_relaxed.owl thymus NET|neuroendocrine neoplasm of thymus|thymus neuroendocrine tumor|thymus neuroendocrine neoplasm|thymus neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:97289|ICD10:D38.4|UMLS:CN206887|ONCOTREE:TNET owl:Class MONDO:0005197 biolink:NamedThing thymus neoplasm A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. tmpte7i6ely_mondo_relaxed.owl thymus tumor|neoplasm of Thymus|thymus neoplasm (disease)|tumor of Thymus|THYMUS|neoplasm of thymus|thymic neoplasm|Thymus neoplasm|tumor of thymus|tumor of the Thymus|neoplasm of the Thymus|Thymus tumor|thymic tumor ONCOTREE:THYMUS|EFO:0002626|OMIM:274230|ICD9:239.89|UMLS:C3714644|NCIT:C3412|Orphanet:100100|SCTID:127231009 owl:Class GO:1902623 biolink:NamedThing negative regulation of neutrophil migration Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. tmpte7i6ely_mondo_relaxed.owl down regulation of neutrophil migration|inhibition of neutrophil migration|down-regulation of neutrophil migration|downregulation of neutrophil migration owl:Class GO:0002686 biolink:NamedThing negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. tmpte7i6ely_mondo_relaxed.owl negative regulation of immune cell migration|downregulation of leukocyte migration|down regulation of leukocyte migration|down-regulation of leukocyte migration|negative regulation of leucocyte migration|inhibition of leukocyte migration owl:Class MONDO:0006484 biolink:NamedThing usual ductal breast hyperplasia A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells. tmpte7i6ely_mondo_relaxed.owl ductal breast hyperplasia of usual type|UDH|ordinary intraductal breast hyperplasia SCTID:472905007|NCIT:C27941|EFO:1000612|ICD9:611.89|UMLS:C3532429 owl:Class GO:0015318 biolink:NamedThing inorganic molecular entity transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. tmpte7i6ely_mondo_relaxed.owl inorganic uptake permease activity|inorganic solute uptake transmembrane transporter activity owl:Class MONDO:0020211 biolink:NamedThing syndromic keratoconus A keratoconus (disease) that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic keratoconus (disease)|syndrome associated with keratoconus (disease) UMLS:CN227821|Orphanet:98623 owl:Class GO:0030317 biolink:NamedThing flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. tmpte7i6ely_mondo_relaxed.owl sperm motility|sperm flagellum movement|sperm flagellum movement involved in flagellated sperm movement|flagellated sperm movement|sperm movement|sperm flagellum movement involved in flagellated sperm motility owl:Class GO:0060294 biolink:NamedThing cilium movement involved in cell motility Movement of cilia mediated by motor proteins that contributes to the movement of a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002524 biolink:NamedThing hypersensitivity An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. tmpte7i6ely_mondo_relaxed.owl hypersensitivity response owl:Class GO:0002438 biolink:NamedThing acute inflammatory response to antigenic stimulus An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003818 biolink:NamedThing childhood mature teratoma of the ovary A mature teratoma that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl childhood mature ovarian teratoma|childhood mature teratoma of ovary|pediatric mature teratoma of ovary|childhood ovarian mature teratoma|pediatric ovarian mature teratoma|pediatric mature teratoma of the ovary|mature ovarian teratoma of childhood|pediatric mature ovarian teratoma DOID:6229|UMLS:C1332991|NCIT:C6548 owl:Class MONDO:0003819 biolink:NamedThing childhood teratoma of the ovary A mature or immature teratoma that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl pediatric ovarian teratoma|ovarian teratoma of childhood|childhood ovarian teratoma|childhood teratoma of ovary|childhood teratoma of the ovary|pediatric teratoma of the ovary|pediatric teratoma of ovary UMLS:C1332992|DOID:6230|NCIT:C6554 owl:Class GO:0022890 biolink:NamedThing inorganic cation transmembrane transporter activity Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl monovalent inorganic cation transmembrane transporter activity|divalent inorganic cation transmembrane transporter activity|trivalent inorganic cation transmembrane transporter activity|di-, tri-valent inorganic cation transmembrane transporter activity owl:Class GO:0043549 biolink:NamedThing regulation of kinase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000359 biolink:NamedThing vascular associated smooth muscle cell A smooth muscle cell assocatiated with the vasculature. tmpte7i6ely_mondo_relaxed.owl vascular smooth muscle cell|VSMC cell owl:Class CL:0000192 biolink:NamedThing smooth muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). tmpte7i6ely_mondo_relaxed.owl non-striated muscle cell|smooth muscle fiber|SMCs|myocytes, smooth muscle CALOHA:TS-2159|FMA:14072|BTO:0004576 CL:0000191 cell owl:Class MONDO:0015883 biolink:NamedThing hidrotic ectodermal dysplasia, Halal type Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|hidrotic ectodermal dysplasia Halal type|Halal-Setton-Wang syndrome|ectodermal dysplasia with skin anomalies and intellectual disability|Halal Setton Wang syndrome MESH:C535621|UMLS:C2930953|ICD10:Q82.8|SCTID:721147000|GARD:0000280|Orphanet:1809 owl:Class HP:0011843 biolink:NamedThing Abnormality of musculoskeletal physiology An abnormality of the function of the skeletal system. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023164 peter 2012-05-07T08:09:43Z human_phenotype owl:Class HP:0000924 biolink:NamedThing Abnormality of the skeletal system An abnormality of the skeletal system. tmpte7i6ely_mondo_relaxed.owl Skeletal anomalies|Abnormality of the skeletal system|Skeletal abnormalities UMLS:C4021790 human_phenotype owl:Class MONDO:0004091 biolink:NamedThing skin basaloid carcinoma A basaloid squamous cell carcinoma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl zone of skin basaloid squamous cell carcinoma|skin basaloid carcinoma|basaloid squamous cell skin carcinoma|skin basaloid squamous cell carcinoma|basaloid skin squamous cell carcinoma UMLS:C1335973|NCIT:C27543|DOID:7049 owl:Class MONDO:0005056 biolink:NamedThing keratinizing squamous cell carcinoma Squamous cell carcinomas with morphologically prominent production of keratin. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma, keratinizing (morphologic abnormality)|keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing|keratinizing epidermoid carcinoma ICDO:8071/3|EFO:0000559|UMLS:C0334247|DOID:5521|NCIT:C4105 owl:Class MONDO:0044675 biolink:NamedThing LRP5-related primary osteoporosis tmpte7i6ely_mondo_relaxed.owl Orphanet:498481 owl:Class CHEBI:75600 biolink:NamedThing EC 6.3.* (C-N bond-forming ligase) inhibitor A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*). tmpte7i6ely_mondo_relaxed.owl C--N bond-forming ligase inhibitor|C-N bond-forming ligase inhibitors|C-N bond-forming ligase (EC 6.3.*) inhibitor|EC 6.3.*.* inhibitor|C-N bond-forming ligase inhibitor|EC 6.3.* inhibitor|C--N bond-forming ligase inhibitors|EC 6.3.* inhibitors|EC 6.3.*.* inhibitors|C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* (C-N bond-forming ligase) inhibitorS owl:Class CHEBI:75603 biolink:NamedThing EC 6.* (ligase) inhibitor Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpte7i6ely_mondo_relaxed.owl EC 6.*.*.* inhibitor|EC 6.*.*.* inhibitors|ligase inhibitors|ligase inhibitor|EC 6.* (ligase) inhibitors|EC 6.* inhibitor|EC 6.* inhibitors owl:Class MONDO:0002169 biolink:NamedThing rectum adenocarcinoma An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma - rectum|adenocarcinoma of the rectum|rectal adenocarcinoma|rectum adenocarcinoma|adenocarcinoma of rectum|read SCTID:254582000|EFO:0005631|UMLS:C0149978|ONCOTREE:READ|NCIT:C9383|DOID:1996 owl:Class MONDO:0044937 biolink:NamedThing rectal carcinoma A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. tmpte7i6ely_mondo_relaxed.owl rectum carcinoma|rectal cancer|cancer of rectum|carcinoma of the rectum|carcinoma of rectum|cancer of the rectum|rectal carcinoma NCIT:C9382 owl:Class CL:0002063 biolink:NamedThing type II pneumocyte A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli. tmpte7i6ely_mondo_relaxed.owl type 2 alveolocyte|lung type II cell|TII|type II alveolar epithelial cell|type 2 alveolar epithelial cell|type II alveolocyte|type 2 pneumocyte|lung type 2 cell|ATII|great alveolar cell|AT2|cuboidal type II cell|type II alveolar cell|granular pneumocyte FMA:62501|BTO:0000538 tmeehan 2010-06-24T12:04:13Z cell owl:Class CL:0000157 biolink:NamedThing surfactant secreting cell A cell that specializes in secretion of surfactant in the alveoli of the lung. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0014434 biolink:NamedThing Bardet-Biedl syndrome 5 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. tmpte7i6ely_mondo_relaxed.owl BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome 5|Bardet-Biedl syndrome type 5|BBS5|Bardet-Biedl syndrome caused by mutation in BBS5 DOID:0110127|OMIM:209900|GARD:0010204|UMLS:C3892039|ICD10:Q87.89|OMIM:615983|EFO:0009025 https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5 owl:Class MONDO:0015229 biolink:NamedThing Bardet-Biedl syndrome A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome|BBS Orphanet:110|OMIM:605231|OMIM:600151|GARD:0006866|OMIM:615987|DOID:1935|ICD10:Q87.8|OMIM:615996|OMIM:615991|OMIMPS:209900|OMIM:615992|OMIM:615989|OMIM:209900|OMIM:617119|NCIT:C118632|OMIM:615995|MedDRA:10056715|ICD9:759.89|SCTID:5619004|OMIM:615990|OMIM:615982|UMLS:C0752166|ICD10:Q87.89|OMIM:615984|OMIM:615981|OMIM:615985|OMIM:615986|OMIM:615988|OMIM:615993|OMIM:615983|MESH:D020788|OMIM:615994 owl:Class MONDO:0016936 biolink:NamedThing partial trisomy/tetrasomy of chromosome 18 A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18. tmpte7i6ely_mondo_relaxed.owl partial duplication/triplication of chromosome 18|partial trisomy/tetrasomy of chromosome type 18 Orphanet:262682 owl:Class MONDO:0016010 biolink:NamedThing vitamin K-antagonist embryofetopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. tmpte7i6ely_mondo_relaxed.owl vitamin K-antagonist embryopathy|fetal anticoagulant syndrome|DiSala syndrome|warfarin embryopathy|di Sala syndrome|warfarin syndrome|coumarin syndrome|coumarin embryopathy|fetal Coumadin syndrome|vitamin K antagonist embryopathy|vitamin K antagonist embryofetopathy|vitamin K-antagonist embryofetopathy|fetal warfarin syndrome|warfarin embryofetopathy|vitamin K antagonists embryofetopathy|embryofetopathy due to oral anticoagulant therapy|congenital warfarin syndrome MESH:C536683|NCIT:C98906|MedDRA:10051445|SCTID:38323006|ICD10:Q86.2|GARD:0008580|Orphanet:1914|UMLS:C0265374|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome owl:Class MONDO:0016677 biolink:NamedThing toxic or drug-related embryofetopathy Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. tmpte7i6ely_mondo_relaxed.owl MESH:D000014|Orphanet:251529 owl:Class HGNC:6929 biolink:NamedThing MC1R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002531 biolink:NamedThing skin neoplasm A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. tmpte7i6ely_mondo_relaxed.owl zone of skin neoplasm|zone of skin tumor|skin benign neoplasm|skin neoplasm|neoplasm of the skin|neoplasm of zone of skin|neoplasm of skin by site|tumor of zone of skin|skin|tumor of skin|neoplasm of skin|skin tumor|skin neoplasms|tumor of the skin|zone of skin neoplasm (disease) DOID:3165|SCTID:126488004|UMLS:C0037286|EFO:0004198|ICD9:239.2|NCIT:C3372|MESH:D012878|ONCOTREE:SKIN owl:Class MONDO:0012093 biolink:NamedThing prostate cancer, hereditary, 3 tmpte7i6ely_mondo_relaxed.owl HPC3|prostate cancer, hereditary, type 3|prostate cancer, hereditary, 3 UMLS:C1837595|MESH:C563883|OMIM:608656 owl:Class MONDO:0023122 biolink:NamedThing familial prostate carcinoma Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. tmpte7i6ely_mondo_relaxed.owl prostate cancer, familial|hereditary prostate cancer|familial prostate cancer|hereditary prostate carcinoma|prostate cancer, hereditary Orphanet:1331|OMIM:176807|GTR:AN0101369|UMLS:CN036094|OMIM:601518|GARD:0004520|SCTID:715412008|NCIT:C103817|GTR:AN0101368|UMLS:C2931456 Editor note: check OMIM https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer owl:Class UBERON:0001919 biolink:NamedThing endothelium of vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015801 biolink:NamedThing hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation tmpte7i6ely_mondo_relaxed.owl UMLS:CN200394|Orphanet:178396 owl:Class MONDO:0019967 biolink:NamedThing Kienbock disease Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. tmpte7i6ely_mondo_relaxed.owl Kienbock's disease|aseptic necrosis of the lunate bone|bilateral Kienbock's disease|Osteochondrosis of the lunate bone|osteochondritis of the lunate bone|Lunatomalacia GARD:0009690|ICD10:M92.2|Orphanet:97332|ICD10:M93.2|MedDRA:10064242 owl:Class MONDO:0018381 biolink:NamedThing osteochondrosis A condition that is characterized by defective bone growth that affects the growth centers of bone. tmpte7i6ely_mondo_relaxed.owl osteochondritis juvenilis|osteochondrosis not specified as adult or juvenile, of unspecified site|apophysitis|osteochondritis|epiphyseal necrosis|epiphysitis Orphanet:399319|GARD:0012704|NCIT:C34879|ICD10:M42|ICD10:M93.9|EFO:0008575|ICD10:M92|SCTID:19579005|ICD9:732.6|MESH:D055034|UMLS:C0029429|DOID:8125 https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis owl:Class MONDO:0030458 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, Type 2HH tmpte7i6ely_mondo_relaxed.owl CMT2HH OMIM:619574 owl:Class MONDO:0015626 biolink:NamedThing Charcot-Marie-Tooth disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. tmpte7i6ely_mondo_relaxed.owl Charcot Marie Tooth disease|Charcot-Marie-Tooth disease|hereditary sensorimotor neuropathy|CMT/HMSN|Charcot Marie Tooth muscular atrophy|hereditary motor and sensory neuropathy|peroneal muscular atrophy|Charcot-Marie-Tooth hereditary neuropathy|Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|CMT|CMT - Charcot-Marie-Tooth disease MESH:D002607|ICD10:G60.0|UMLS:C0007959|Orphanet:166|NCIT:C75467|DOID:10595|GARD:0006034|OMIMPS:118220|MedDRA:10034699|ICD9:356.1 owl:Class GO:0010822 biolink:NamedThing positive regulation of mitochondrion organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpte7i6ely_mondo_relaxed.owl positive regulation of mitochondrion organisation owl:Class NCBITaxon:121228 biolink:NamedThing Pthirus pubis tmpte7i6ely_mondo_relaxed.owl public louse|genital louse|Phtirus pubis|crab louse|Phthirus pubis GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:121227 biolink:NamedThing Pthirus tmpte7i6ely_mondo_relaxed.owl Phtirus|Phthirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002693 biolink:NamedThing lateral sinus thrombosis Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure. tmpte7i6ely_mondo_relaxed.owl thrombosis of lateral venous sinus|thrombosis transverse sinus SCTID:192761004|MESH:D020227|UMLS:C0270639|DOID:3574 owl:Class MONDO:0002692 biolink:NamedThing intracranial sinus thrombosis Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects. tmpte7i6ely_mondo_relaxed.owl UMLS:C0037198|MESH:D012851|DOID:3572 owl:Class MONDO:0018589 biolink:NamedThing AApoAIV amyloidosis tmpte7i6ely_mondo_relaxed.owl apolipoprotein A-IV amyloidosis ICD10:E85.8|Orphanet:439232 owl:Class MONDO:0019724 biolink:NamedThing secondary glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established. tmpte7i6ely_mondo_relaxed.owl UMLS:CN206631|Orphanet:93551 owl:Class MONDO:0012322 biolink:NamedThing holoprosencephaly 5 Holoprosencephaly associated with mutations in the ZIC2 gene. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly type 5|holoprosencephaly caused by mutation in ZIC2|HPE5|holoprosencephaly 5|ZIC2 holoprosencephaly OMIM:609637|Orphanet:2162|MESH:C566464|UMLS:C1864827|NCIT:C75460|DOID:0110878 owl:Class MONDO:0019757 biolink:NamedThing alobar holoprosencephaly Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.2|OMIM:610829|SCTID:253137003|OMIM:157170|OMIM:609637|Orphanet:93925 owl:Class MONDO:0000286 biolink:NamedThing Epstein-Barr virus hepatitis A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. tmpte7i6ely_mondo_relaxed.owl UMLS:C0554114|DOID:0050204|SCTID:302919001 owl:Class GO:0016832 biolink:NamedThing aldehyde-lyase activity Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone. tmpte7i6ely_mondo_relaxed.owl aldolase activity owl:Class GO:0016830 biolink:NamedThing carbon-carbon lyase activity Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpte7i6ely_mondo_relaxed.owl other carbon-carbon lyase activity owl:Class OBO:CHR_9606-chr11 biolink:NamedThing chromosome 11 (Human) tmpte7i6ely_mondo_relaxed.owl 11 135086622 0 hg38 owl:Class NCIT:C36849 biolink:NamedThing Neoplastic Epithelial Spindle Cell tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C36823 biolink:NamedThing Neoplastic Spindle Cell tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005497 biolink:NamedThing non-neural ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp21 biolink:NamedThing Xp21 (Human) tmpte7i6ely_mondo_relaxed.owl 37800000 24900000 hg38 owl:Class MONDO:0007626 biolink:NamedThing familial congenital palsy of trochlear nerve An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl trochlear nerve palsy, familial congenital|fourth cranial nerve palsy, familial congenital|hereditary fourth cranial nerve palsy|strabismus from Superior oblique palsy|superior oblique oculomotor palsy, familial congenital OMIM:136480|ICD10:H49.1|MESH:C565007|GARD:0010355|Orphanet:91498|UMLS:C1850996 https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve owl:Class MONDO:0020256 biolink:NamedThing congenital trochlear nerve palsy tmpte7i6ely_mondo_relaxed.owl congenital CNIV palsy|congenital superior oblique palsy|congenital fourth cranial nerve palsy Orphanet:98686|ICD10:H49.1 owl:Class MONDO:0010570 biolink:NamedThing craniofrontonasal syndrome Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. tmpte7i6ely_mondo_relaxed.owl CFNS|craniofrontonasal syndrome|CFND|craniofrontonasal dysostosis|craniofrontonasal dysplasia SCTID:715421009|OMIM:304110|MESH:C536456|GARD:0001578|DOID:14737|Orphanet:1520|ICD10:Q87.1|UMLS:C0220767 owl:Class MONDO:0013244 biolink:NamedThing brachydactyly type E2 Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene. tmpte7i6ely_mondo_relaxed.owl brachydactyly, type E2|brachydactyly type E2|BDE2|brachydactyly type E caused by mutation in PTHLH|PTHLH brachydactyly type E OMIM:613382|UMLS:C3150644|Orphanet:93387|DOID:0110976 owl:Class MONDO:0019677 biolink:NamedThing brachydactyly type E Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. tmpte7i6ely_mondo_relaxed.owl type E brachydactyly Orphanet:93387|ICD10:Q73.8|OMIM:113300|GARD:0000987|OMIM:613382 owl:Class MONDO:0014744 biolink:NamedThing acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia type 21|spinocerebellar ataxia, autosomal recessive 21|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|autosomal recessive spinocerebellar ataxia 21|autosomal recessive spinocerebellar ataxia 21 with hepatopathy|SCAR21|spinocerebellar ataxia, autosomal recessive type 21|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy Orphanet:466794|UMLS:C4225236|DOID:0111155|OMIM:616719 owl:Class MONDO:0020047 biolink:NamedThing autosomal recessive syndromic cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl Orphanet:98099|UMLS:CN227742 owl:Class MONDO:0013737 biolink:NamedThing hereditary spastic paraplegia 46 A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia type 46|GBA2 autosomal recessive complex spastic paraplegia|spastic paraplegia 46, autosomal recessive|autosomal recessive spastic paraplegia 46|SPG46|hereditary spastic paraplegia 46|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|hereditary spastic paraplegia type 46 UMLS:C2828721|Orphanet:320391|OMIM:614409|SCTID:723822009|ICD10:G11.4|DOID:0110798|UMLS:C4510081 owl:Class MONDO:0700063 biolink:NamedThing complete A disease characteristic in which the cause of the disease is present in all the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0700061 biolink:NamedThing mosaic vs complete A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016140 biolink:NamedThing sarcoglycanopathy Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of sarcoglycan Orphanet:207052|MESH:D058088 owl:Class CL:2000051 biolink:NamedThing splenic fibroblast Any fibroblast that is part of a spleen. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-10-06T18:58:47Z cell owl:Class MONDO:0005789 biolink:NamedThing hepatitis D virus infection Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. tmpte7i6ely_mondo_relaxed.owl hepatitis type D|Hepatitis delta virus caused hepatitis|delta hepatitis|hepatitis delta|Hepatitis delta virus hepatitis|Hepatitis D virus|HDV ICD10:B17.0|DOID:2047|Orphanet:402823|SCTID:707341005|ICD9:070.52|EFO:0007304|MESH:D003699 owl:Class HP:0001626 biolink:NamedThing Abnormality of the cardiovascular system Any abnormality of the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl Cardiovascular abnormality|Abnormality of the cardiovascular system|Cardiovascular disease UMLS:C0007222|UMLS:C0243050|MSH:D002318|MSH:D018376|SNOMEDCT_US:49601007 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. human_phenotype owl:Class MONDO:0006393 biolink:NamedThing rectal traditional serrated adenoma An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia. tmpte7i6ely_mondo_relaxed.owl rectal serrated adenoma|rectal traditional serrated adenoma|rectal serrated adenoma type II|rectal TSA NCIT:C96463|EFO:1000503|UMLS:C3272790 owl:Class MONDO:0000530 biolink:NamedThing rectum adenoma An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpte7i6ely_mondo_relaxed.owl rectum adenoma|adenoma of the rectum|adenoma of rectum|rectal adenoma UMLS:C1302652|DOID:0050915|SCTID:399730005|NCIT:C5546 owl:Class MONDO:0008564 biolink:NamedThing DiGeorge syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. tmpte7i6ely_mondo_relaxed.owl DGS1|DiGeorge anomaly|pharyngeal pouch syndrome|DiGeorge syndrome|Shprintzen syndrome|hypoplasia of thymus and parathyroids|Sphrintzen|22q deletion syndrome(s)|DiGeorge's syndrome|Di-George syndrome|DiGeorge syndrome type 1|DiGeorge syndrome chromosome region|Takao VCF syndrome|DGS|chromosome 22Q11.2 deletion syndrome|Catch22|velocardiofacial syndrome|velo-cardio-facial syndrome|VCF|22q11.2 Deletion syndrome|third and fourth pharyngeal pouch syndrome OMIM:188400|ICD10:D82.1|MESH:D004062|DOID:11198|UMLS:CN734570|GTR:AN1145678|Orphanet:567|NCIT:C2989|ICD9:279.11|SCTID:77128003 owl:Class MONDO:0021635 biolink:NamedThing neurocristopathy That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. tmpte7i6ely_mondo_relaxed.owl disorder of neural crest cell development|neural crest cell development disease|disorder of neural crest development owl:Class MONDO:0009015 biolink:NamedThing corneal dystrophy-perceptive deafness syndrome Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy and perceptive deafness|corneal dystrophy with progressive deafness|Cdpd1|CDPD|corneal dystrophy and sensorineural deafness|congenital corneal dystrophy, progressive sensorineural deafness|Harboyan syndrome DOID:0111620|ICD10:H18.5|SCTID:720749004|OMIM:217400|GARD:0001529|UMLS:C1857572|Orphanet:1490|MESH:C535473 owl:Class GO:0015701 biolink:NamedThing bicarbonate transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015711 biolink:NamedThing organic anion transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014769 biolink:NamedThing palpebral vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009703 biolink:NamedThing myopathy with abnormal lipid metabolism tmpte7i6ely_mondo_relaxed.owl lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency|LSMFLAD|myopathy with abnormal lipid metabolism|lipid storage myopathy|LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency OMIM:255100|UMLS:C0410214 owl:Class MONDO:0003490 biolink:NamedThing ampulla of vater squamous cell carcinoma A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpte7i6ely_mondo_relaxed.owl hepatopancreatic ampulla squamous cell carcinoma|ampulla of Vater squamous cell carcinoma DOID:5527|UMLS:C1332251|NCIT:C27417 owl:Class MONDO:0018509 biolink:NamedThing squamous cell carcinoma of the small intestine A carcinoma that arises from the small intestine. It is composed of malignant squamous cells. tmpte7i6ely_mondo_relaxed.owl small intestinal squamous cell cancer|squamous cell carcinoma of the small bowel|small intestine squamous cell carcinoma|small intestinal squamous cell carcinoma ICD10:C17.0|ICD10:C17.8|ICD10:C17.1|UMLS:C1710111|NCIT:C43534|Orphanet:423968|ICD10:C17.2|UMLS:CN237514|ICD10:C17.3 owl:Class NCBITaxon:78536 biolink:NamedThing Euphyllophyta tmpte7i6ely_mondo_relaxed.owl euphyllophytes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:58023 biolink:NamedThing Tracheophyta tmpte7i6ely_mondo_relaxed.owl vascular plants GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021469 biolink:NamedThing benign neoplasm of anus A benign neoplasm that involves the anus. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the anus|anus benign neoplasm|benign tumor of anus|benign anal tumor|benign tumor of the anus|benign anal neoplasm NCIT:C4611|UMLS:C0347276|SCTID:91978004 owl:Class MONDO:0003046 biolink:NamedThing anus neoplasm A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of anus|anal tumor|anal neoplasm|anus neoplasm (disease)|anal tumors|anus neoplasm|neoplasm of the anus|tumor of anus|tumor of the anus|anal neoplasms, benign and malignant|anus tumor MESH:D001005|SCTID:126849006|NCIT:C2877|UMLS:C0003463|DOID:4551|EFO:0003835 owl:Class HGNC:9386 biolink:NamedThing PRKAG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007445 biolink:NamedThing dermatopathia pigmentosa reticularis tmpte7i6ely_mondo_relaxed.owl DPR|dermatopathia pigmentosa reticularis ICD10:Q82.4|Orphanet:86920|SCTID:239088003|MESH:C535374|GARD:0008550|OMIM:125595|DOID:0111342 https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis owl:Class MONDO:0017640 biolink:NamedThing cyanide-induced parkinsonism Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. tmpte7i6ely_mondo_relaxed.owl Orphanet:306692|UMLS:CN203536|SCTID:766872002|ICD10:G21.2 owl:Class MONDO:0003994 biolink:NamedThing botryoid-type embryonal rhabdomyosarcoma of the vagina A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpte7i6ely_mondo_relaxed.owl botryoid-type embryonal rhabdomyosarcoma of the vagina|sarcoma Botryoides of the vagina|botryoid rhabdomyosarcoma of vagina|vagina botryoid rhabdomyosarcoma UMLS:C1511275|NCIT:C40268|DOID:6788 owl:Class MONDO:0016095 biolink:NamedThing vaginal rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina. tmpte7i6ely_mondo_relaxed.owl vulvovaginal rhabdomyosarcoma|rhabdomyosarcoma (disease) of vagina|vagina rhabdomyosarcoma|vaginal rhabdomyosarcoma|vagina rhabdomyosarcoma (disease) Orphanet:206492|UMLS:C4288035|NCIT:C128080|SCTID:766759009|ICD10:C52 owl:Class MONDO:0006960 biolink:NamedThing sciatic neuropathy Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) tmpte7i6ely_mondo_relaxed.owl EFO:1001166|MESH:D020426|DOID:11446|MedDRA:10048950|UMLS:C0149940|SCTID:52585001 owl:Class MONDO:0001397 biolink:NamedThing mononeuropathy Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions. tmpte7i6ely_mondo_relaxed.owl DOID:1188|ICD10:G58.9|UMLS:C0494491|MESH:D020422|SCTID:128189008 owl:Class MONDO:0017521 biolink:NamedThing hyperphalangy, unilateral tmpte7i6ely_mondo_relaxed.owl hyperphalangy in digits 2-5|supernumerary phalanx, unilateral|supernumerary phalanges, unilateral Orphanet:295140|ICD10:Q74.8 owl:Class MONDO:0017455 biolink:NamedThing hyperphalangy Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl supernumerary phalanges|supernumerary phalanx Orphanet:295002|ICD10:Q74.8|SCTID:763535005 owl:Class UBERON:0035286 biolink:NamedThing lateral wall of oropharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011609 biolink:NamedThing atopic dermatitis 6 An atopic dermatitis associated with variation in the region 5q31-q33. tmpte7i6ely_mondo_relaxed.owl atopic dermatitis type 6|dermatitis, ATOPIC, 6|ATOD6 DOID:0110102|UMLS:C1853899|MESH:C565279|OMIM:605845 owl:Class MONDO:0004980 biolink:NamedThing atopic eczema A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. tmpte7i6ely_mondo_relaxed.owl allergic|eczematous dermatitis|allergic dermatitis|Atopic dermatitis|atopic eczema|allergic form of dermatitis|Atopic neurodermatitis|eczema|Besnier's prurigo NCIT:C3001|OMIM:147050|OMIMPS:603165|OMIM:603165|ICD10:L20.9|ICD9:691|OMIM:605803|EFO:0000274|ICD9:691.8|ICD10:L20|DOID:3310|ICD10:L20.81 owl:Class MONDO:0008026 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, childhood, proximal, autosomal dominant|SMALED1|Sma-led|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant|Kugelberg-Welander syndrome, autosomal dominant|spinal muscular atrophy, juvenile, proximal, autosomal dominant MESH:C563560|ICD10:G12.1|Orphanet:363447|UMLS:C1834690|OMIM:158600|Orphanet:209341 owl:Class MONDO:0018190 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, lower extremity-predominant|SMALED|lower extremity-predominant autosomal dominant proximal spinal muscular atrophy ICD10:G12.1|Orphanet:363447|OMIMPS:158600|UMLS:C1834690|UMLS:CN227282|OMIM:158600|OMIM:615290 owl:Class GO:1902653 biolink:NamedThing secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of secondary alcohol. tmpte7i6ely_mondo_relaxed.owl secondary alcohol anabolism|secondary alcohol formation|secondary alcohol synthesis|secondary alcohol biosynthesis owl:Class GO:0046165 biolink:NamedThing alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpte7i6ely_mondo_relaxed.owl alcohol formation|alcohol anabolism|alcohol synthesis|alcohol biosynthesis owl:Class MONDO:0005628 biolink:NamedThing male breast carcinoma A malignant neoplasm involving the male breast. tmpte7i6ely_mondo_relaxed.owl carcinoma of the Male breast|male breast cancer|Male breast cancer|neoplasm of male breast|carcinoma of Male breast|Male breast carcinoma|carcinoma of male breast|male breast carcinoma|malignant neoplasm of male breast|breast cancer, male|breast cancer in men GARD:0009312|SCTID:372095001|UMLS:C0242788|UMLS:C0238033|NCIT:C3862|ICD9:175.9|UMLS:C0242787|MESH:D018567|DOID:1614|EFO:0006861 owl:Class UBERON:0001960 biolink:NamedThing periarterial lymphatic sheath tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010393 biolink:NamedThing T cell domain tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005183 biolink:NamedThing gonadotropin hormone-releasing hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. tmpte7i6ely_mondo_relaxed.owl LH/FSH-RF|luteinizing hormone/follicle-stimulating hormone releasing factor activity|LHRH activity|GnRH activity|luteinizing hormone-releasing hormone activity|gonadotrophin hormone-releasing hormone activity|luteinizing hormone-releasing factor activity owl:Class GO:0005179 biolink:NamedThing hormone activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. tmpte7i6ely_mondo_relaxed.owl peptide hormone|glycopeptide hormone|lipopeptide hormone|cAMP generating peptide activity owl:Class GO:0044270 biolink:NamedThing cellular nitrogen compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds. tmpte7i6ely_mondo_relaxed.owl nitrogen compound degradation|nitrogen compound catabolism|nitrogen compound breakdown owl:Class MONDO:0006391 biolink:NamedThing pyloric gland adenoma A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed. tmpte7i6ely_mondo_relaxed.owl pyloric gastric gland adenoma|pyloric gland adenoma NCIT:C43526|UMLS:C1709780|EFO:1000501 owl:Class MONDO:0006221 biolink:NamedThing gastric adenoma A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps. tmpte7i6ely_mondo_relaxed.owl gastric adenoma|adenoma of the stomach|adenoma of stomach|stomach adenoma UMLS:C0149826|NCIT:C7699|EFO:1000268 owl:Class MONDO:0007743 biolink:NamedThing attention deficit-hyperactivity disorder A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. tmpte7i6ely_mondo_relaxed.owl attention deficit/hyperactivity disorder|attention deficit-hyperactivity disorder|attention deficit hyperactivity disorder|ADHD|hyperactivity of childhood NCIT:C97160|OMIM:143465 owl:Class MONDO:0000592 biolink:NamedThing specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. tmpte7i6ely_mondo_relaxed.owl specific developmental disorder|specific delays in development DOID:0060038|SCTID:10720004|ICD9:315.8 owl:Class MONDO:0017010 biolink:NamedThing partial duplication of the long arm of chromosome X Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl Xq duplication|partial duplication of chromosome Xq|Duplication Xq|partial trisomy Xq|trisomy Xq|chromosome Xq duplication|partial duplication of the long arm of chromosome type X|Xq trisomy|partial trisomy of chromosome Xq|partial trisomy of the long arm of chromosome X UMLS:C0795891|Orphanet:263783|MESH:C536732|GARD:0005369|ICD10:Q99.8 owl:Class GO:1904220 biolink:NamedThing regulation of serine C-palmitoyltransferase activity Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpte7i6ely_mondo_relaxed.owl regulation of 3-oxosphinganine synthetase activity|regulation of serine palmitoyltransferase|regulation of SPT|regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating owl:Class MONDO:0006537 biolink:NamedThing conjunctival pigmentation Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron. tmpte7i6ely_mondo_relaxed.owl ICD9:372.55|DOID:12304|ICD10:H11.13|UMLS:C0155163|EFO:1000682|SCTID:66081003 owl:Class MONDO:0006600 biolink:NamedThing pigmentation disease tmpte7i6ely_mondo_relaxed.owl disorder of pigmentation 2022-05-01 SCTID:414032001 Reason: grouping class. Term to consider: none. This class covers pigmentation disorders of the skin, as well as those affecting the eyes. https://github.com/monarch-initiative/mondo/issues/4480 owl:Class MONDO:0007571 biolink:NamedThing primary erythermalgia Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. tmpte7i6ely_mondo_relaxed.owl erythromelalgia, familial|erythromelalgia, primary|PERYTHM|primary erythromelalgia|erythermalgia, primary|Mitchell disease (formerly)|neuropathy, small Fiber GARD:0006377|OMIM:133020|Orphanet:90026|ICD10:I73.8|SCTID:709489006|NCIT:C125383|UMLS:C0014805|Orphanet:306577 Editor note: consider link to MONDO:0016028 owl:Class MONDO:0016028 biolink:NamedThing erythromelalgia A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. tmpte7i6ely_mondo_relaxed.owl DOID:9240|ICD10:I73.81|ICD10:I73.8|NCIT:C34593|UMLS:C0014804|SCTID:37151006|MESH:D004916|ICD9:443.82|MedDRA:10015284|Orphanet:1956 owl:Class MONDO:0015611 biolink:NamedThing neutral lipid storage disease Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. tmpte7i6ely_mondo_relaxed.owl Chanarin-Dorfman syndrome|lipidosis with triglycerid storage disease|lipidosis with triglyceride storage disease DOID:0050729|Orphanet:165|ICD10:E75.5|UMLS:CN199983|GARD:0003262 Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. owl:Class NCBITaxon:29907 biolink:NamedThing Sporothrix tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5152 biolink:NamedThing Ophiostomataceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:117573 ncbi_taxonomy owl:Class MONDO:0043116 biolink:NamedThing iida kannari syndrome tmpte7i6ely_mondo_relaxed.owl craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features MESH:C536284|GARD:0003249|UMLS:C2931159 owl:Class MONDO:0016064 biolink:NamedThing cleft palate Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. tmpte7i6ely_mondo_relaxed.owl palatoschisis|uranostaphyloschisis|cleft velum ICD10:Q35|UMLS:C0008925|ICD10:Q35.1|ICD10:Q35.5|Orphanet:2014|MedDRA:10009269|NCIT:C87069|ICD9:749.00|SCTID:63567004|OMIM:119540|ICD10:Q35.3|ICD9:749.0|Orphanet:99772|ICD10:Q35.7|ICD10:Q35.9|DOID:674|MESH:D002972 owl:Class MONDO:0002199 biolink:NamedThing benign mixed tumor of the vulva A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. tmpte7i6ely_mondo_relaxed.owl benign mixed tumor of the vulva|chondroid syringoma of the vulva DOID:2078|UMLS:C1511091|NCIT:C40302 owl:Class MONDO:0000643 biolink:NamedThing vulvar benign neoplasm A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma. tmpte7i6ely_mondo_relaxed.owl benign vulva neoplasm|benign tumor of the vulva|benign tumor of vulva|benign neoplasm of vulva|mammalian vulva benign neoplasm|benign vulvar tumor|benign vulval neoplasm|benign vulvar neoplasm|benign neoplasm of the vulva|benign vulva tumor|vulva benign neoplasm DOID:0060109|NCIT:C3611|UMLS:C0154003|SCTID:92486005 owl:Class MONDO:0018637 biolink:NamedThing familial chylomicronemia syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:207750|OMIM:615947|OMIM:238600|ICD10:E78.3|Orphanet:444490|DOID:0111417|OMIM:118830|UMLS:CN231410 owl:Class MONDO:0015902 biolink:NamedThing major hypertriglyceridemia Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential. tmpte7i6ely_mondo_relaxed.owl Orphanet:181425|ICD10:E78.1 owl:Class CL:2000063 biolink:NamedThing ovarian fibroblast Any fibroblast that is part of a female gonad. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7330 TermGenie 2014-10-07T17:57:42Z cell owl:Class MONDO:0004263 biolink:NamedThing pediatric infratentorial ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. tmpte7i6ely_mondo_relaxed.owl childhood infratentorial ependymoblastoma|pediatric infratentorial ependymoblastoma|childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered UMLS:C1332972|DOID:7522|NCIT:C6773 owl:Class MONDO:0002798 biolink:NamedThing childhood central nervous system primitive neuroectodermal neoplasm A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. tmpte7i6ely_mondo_relaxed.owl Central nervous system embryonal tumor, NOS|childhood CNS primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal tumor|pediatric CNS primitive neuroectodermal tumor|childhood central nervous system primitive neuroectodermal neoplasm|childhood central nervous system PNET|childhood central primitive neuroectodermal neoplasm|pediatric central primitive neuroectodermal neoplasm|pediatric central nervous system primitive neuroectodermal neoplasm|childhood central primitive neuroectodermal tumor|pediatric CNS PNET|childhood CNS PNET|pediatric CNS primitive neuroectodermal neoplasm|central nervous system primitive neuroectodermal neoplasm of childhood|childhood central nervous system primitive neuroectodermal tumor|childhood CNS primitive neuroectodermal neoplasm|pediatric central primitive neuroectodermal tumor NCIT:C5961|UMLS:C1332957|DOID:3870 owl:Class GO:0043471 biolink:NamedThing regulation of cellular carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060255 biolink:NamedThing regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015941 biolink:NamedThing epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl Finucane Kurtz Scott syndrome|Finucane-Kurtz-Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism GARD:0002178|UMLS:CN200532|ICD10:Q87.0|SCTID:766870005|Orphanet:1825 https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism owl:Class UBERON:0003296 biolink:NamedThing gland of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037251 biolink:NamedThing congestive splenomegaly tmpte7i6ely_mondo_relaxed.owl banti's spleen|fibrocongestive splenomegaly|banti syndrome|congestive splenomegaly SCTID:19058002 owl:Class MONDO:0002332 biolink:NamedThing splenic disorder A disease involving the spleen. tmpte7i6ely_mondo_relaxed.owl splenic disorder|spleen disease|disorder of spleen|disease of spleen|splenic disease|spleen disorder|disease or disorder of spleen|Dyssplenism|spleen disease or disorder DOID:2529|ICD9:289.50|UMLS:C0037997|SCTID:58381000|ICD10:D73.9|MESH:D013158|SCTID:51244008|NCIT:C35823|ICD10:D73|EFO:0009002 owl:Class MONDO:0012471 biolink:NamedThing Aicardi-Goutieres syndrome 3 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene. tmpte7i6ely_mondo_relaxed.owl Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|RNASEH2C Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 3|AGS3|RNASEH2C -related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 3 MESH:C563683|UMLS:C1835916|OMIM:610329|Orphanet:51|GARD:0010895 owl:Class MONDO:0016106 biolink:NamedThing progressive muscular dystrophy tmpte7i6ely_mondo_relaxed.owl progressive muscular dystrophy ICD10:G71.0|UMLS:CN241791|Orphanet:206644|GARD:0012583 owl:Class MONDO:0017487 biolink:NamedThing radial hemimelia, bilateral tmpte7i6ely_mondo_relaxed.owl radial longitidinal meromelia, bilateral ICD10:Q71.4|Orphanet:295071 owl:Class MONDO:0019671 biolink:NamedThing radial hemimelia Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius. tmpte7i6ely_mondo_relaxed.owl congenital longitudinal deficiency of the radius|radial longitidinal meromelia|radial ray agenesis|radial clubhand Orphanet:93321|GARD:0000225|SCTID:48008009|ICD9:755.59|ICD10:Q71.4 owl:Class MONDO:0002867 biolink:NamedThing pancreatic cystadenocarcinoma A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. tmpte7i6ely_mondo_relaxed.owl cystadenocarcinoma - pancreas|cystadenocarcinoma of pancreas|cystadenocarcinoma of the pancreas|pancreatic cystadenocarcinoma|pancreas cystadenocarcinoma UMLS:C0238337|SCTID:235966007|NCIT:C3874|DOID:4073 owl:Class MONDO:0005596 biolink:NamedThing cystadenocarcinoma A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. tmpte7i6ely_mondo_relaxed.owl cystadenocarcinoma|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma, malignant|cystadenocarcinoma (morphologic abnormality) EFO:0006387|MESH:D003536|ICDO:8440/3|DOID:3111|UMLS:C0010631|NCIT:C2971 owl:Class MONDO:0024468 biolink:NamedThing anterior pituitary gland disorder A disease that involves the adenohypophysis. tmpte7i6ely_mondo_relaxed.owl disease of adenohypophysis|adenohypophysis disease or disorder|disorder of anterior pituitary|disorder of adenohypophysis|disease or disorder of adenohypophysis|adenohypophysis disease|disorder of anterior pituitary gland ICD9:253.4|SCTID:51742006|ICD9:253.9 owl:Class MONDO:0003381 biolink:NamedThing pituitary gland disorder A disease involving the pituitary gland. tmpte7i6ely_mondo_relaxed.owl disorder of pituitary gland|pituitary disease|pituitary gland disease|pituitary gland disease or disorder|disease of pituitary gland|pituitary gland disorder|disease or disorder of pituitary gland DOID:53|MESH:D010900|ICD9:253.9|ICD9:253.8|NCIT:C26854|ICD9:253.1|SCTID:399244003 owl:Class MONDO:0012000 biolink:NamedThing specific phobia An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. tmpte7i6ely_mondo_relaxed.owl phobia, specific|phobia, simple|simple phobia ICD9:300.29|EFO:1001918|MESH:C562465|SCTID:54587008|OMIM:608251|DOID:599|ICD10:F40.2|NCIT:C35284 owl:Class MONDO:0003699 biolink:NamedThing phobic disorder An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. tmpte7i6ely_mondo_relaxed.owl phobia ICD10:F40.9|DOID:591|ICD9:300.20|MESH:D010698|ICD10:F40|NCIT:C35420|EFO:1001908|SCTID:386810004|ICD9:300.2 owl:Class MONDO:0016504 biolink:NamedThing primary unilateral adrenal hyperplasia Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. tmpte7i6ely_mondo_relaxed.owl PUAH SCTID:715868005|UMLS:C4274967|Orphanet:231580|ICD10:E26.0 owl:Class MONDO:0001422 biolink:NamedThing primary aldosteronism An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. tmpte7i6ely_mondo_relaxed.owl primary hyperaldosteronism|Conn's syndrome|Conn syndrome|primary aldosteronism ICD9:255.12|ICD10:E26.0|DOID:12028|SCTID:190507007|NCIT:C34510|ICD10:E26.01 Editor note: DOID class refers to adenoma-caused Conn syndrome owl:Class MONDO:0008706 biolink:NamedThing Ackerman syndrome Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. tmpte7i6ely_mondo_relaxed.owl glaucoma, juvenile, with unusual upper lip and dental roots|pyramidal molar-glaucoma-upper abnormal lip syndrome|pyramidal molars, glaucoma, abnormal upper lip|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|juvenile glaucoma with unusual upper lip and dental roots|Ackerman fused molar rooth syndrome|Ackerman syndrome OMIM:200970|ICD10:K00.2|SCTID:722280000|MESH:C538170|GARD:0000469|Orphanet:2561|UMLS:C1860167 https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome owl:Class MONDO:0009340 biolink:NamedThing non-spherocytic hemolytic anemia due to hexokinase deficiency Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia. tmpte7i6ely_mondo_relaxed.owl hemolytic anemia, nonspherocytic, due to hexokinase deficiency|nonspherocytic hemolytic anemia due to hexokinase deficiency|hexokinase deficiency hemolytic anemia ICD10:D55.2|OMIM:235700|Orphanet:90031|GARD:0003672|MESH:C562995 https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency owl:Class MONDO:0010449 biolink:NamedThing autism, susceptibility to, X-linked 5 tmpte7i6ely_mondo_relaxed.owl susceptibility to X-linked autism 5|AUTSX5|autism, susceptibility to, X-linked type 5|autism, susceptibility to, X-linked 5 OMIM:300847 owl:Class MONDO:0006268 biolink:NamedThing liver diffuse large B-cell lymphoma A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver. tmpte7i6ely_mondo_relaxed.owl diffuse large B-cell lymphoma of liver|primary hepatic diffuse large B-cell lymphoma|hepatic diffuse large B-cell lymphoma|primary liver diffuse large B-cell lymphoma|liver diffuse large B-cell lymphoma NCIT:C96843|UMLS:C2184126|EFO:1000323 owl:Class MONDO:0007256 biolink:NamedThing hepatocellular carcinoma A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. tmpte7i6ely_mondo_relaxed.owl hepatoblastoma|liver and intrahepatic bile duct carcinoma|liver carcinoma|hepatocellular cancer|liver cell cancer (hepatocellular carcinoma)|carcinoma, hepatocellular, malignant|carcinoma of the liver cells|hepatoblastoma caused by somatic mutation|adult primary hepatocellular carcinoma|HCC|carcinoma of liver|hepatocellular adenocarcinoma|carcinoma of liver cells|primary carcinoma of liver cells|cancer, hepatocellular|liver cancer|primary carcinoma of the liver cells|liver cell carcinoma|hepatoma|hepatocellular carcinoma|adult hepatoma Orphanet:449|EFO:0000182|DOID:686|NCIT:C7927|NCIT:C7956|OMIM:114550|NCIT:C3099|UMLS:C0279607|ICDO:8170/3|DOID:684|UMLS:C0206624|ONCOTREE:HCC|Orphanet:88673|ICD10:C22.0|UMLS:C0345904|MedDRA:10049010|MESH:D006528 owl:Class MONDO:0007944 biolink:NamedThing Treacher-Collins syndrome 1 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. tmpte7i6ely_mondo_relaxed.owl TREACHER COLLINS syndrome 1|mandibulofacial dysostosis|Treacher-Collins syndrome caused by mutation in TCOF1|TCS1|TCOF1 Treacher-Collins syndrome|Treacher Collins syndrome|Treacher-Collins syndrome 1|Treacher Collins syndrome type 1|Treacher Collins-Franceschetti syndrome UMLS:CN119605|OMIM:154500 owl:Class MONDO:0002457 biolink:NamedThing Treacher-Collins syndrome Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. tmpte7i6ely_mondo_relaxed.owl Treacher-Collins syndrome|Franceschetti-Klein syndrome|mandibulofacial dysostosis without limb anomalies|MFD1|TCOF|Franceschetti syndrome|TCS|Treacher Collins syndrome NCIT:C75018|OMIM:154500|OMIM:613717|Orphanet:861|OMIM:248390|DOID:2908|GARD:0009124|SCTID:62767009|OMIMPS:154500|UMLS:C0265241|MedDRA:10051456|MESH:D008342|ICD10:Q75.4 owl:Class MONDO:0019173 biolink:NamedThing rabies Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. tmpte7i6ely_mondo_relaxed.owl lyssa Orphanet:770|ICD9:071|ICD10:A82.1|MedDRA:10037742|SCTID:14168008|MESH:D011818|DOID:11260|ICD10:A82.9|UMLS:C0034494|ICD10:A82|NCIT:C28182|GARD:0007516|ICD10:A82.0 https://rarediseases.info.nih.gov/diseases/7516/rabies owl:Class MONDO:0005108 biolink:NamedThing viral infectious disease Any disease caused by a virus. tmpte7i6ely_mondo_relaxed.owl Viruses infectious disease|infections, Viruses|Viruses caused disease or disorder|viral disorder|viral disease|Viruses disease or disorder|virus infection|viral infection|infection, viral|Viruses infection ICD10:B34.9|SCTID:34014006|ICD10:A94|ICD10:B34|ICD9:078.89|NCIT:C3439|MESH:D014777|ICD9:066.9|ICD9:060-066.99|ICD9:079.99|EFO:0000763|DOID:934 owl:Class MONDO:0005700 biolink:NamedThing chickenpox A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. tmpte7i6ely_mondo_relaxed.owl chicken pox infection|chickenpox|Varicella|varicella|chicken pox ICD9:052.9|EFO:0007204|SCTID:38907003|UMLS:C0008049|ICD10:B01.9|DOID:8659|ICD9:052|ICD10:B01|NCIT:C97132|MESH:D002644 owl:Class MONDO:0006617 biolink:NamedThing vesiculobullous skin disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) tmpte7i6ely_mondo_relaxed.owl bullous skin diseases|vesiculobullous skin disease|vesicular skin disease|bullous skin disease|dermatosis, subcorneal pustular|vesiculobullous dermatoses|vesicular skin diseases|skin diseases, bullous|bullous dermatoses|Sneddon Wilkinson disease|pustular dermatosis, subcorneal|Sneddon-Wilkinson disease|subcorneal pustular dermatoses|skin diseases, vesicular|pustular dermatoses, subcorneal|subcorneal pustular dermatosis|skin disease, vesicular|dermatoses, bullous|dermatoses, vesiculobullous|skin disease, vesiculobullous|vesiculobullous skin diseases|dermatoses, subcorneal pustular|skin disease, bullous MESH:D012872|UMLS:C0037275|DOID:2731|EFO:1000774 owl:Class UBERON:0035383 biolink:NamedThing lateral wall of nasopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000328 biolink:NamedThing gut wall tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016592 biolink:NamedThing non-hereditary degenerative ataxia tmpte7i6ely_mondo_relaxed.owl Orphanet:247239 owl:Class MONDO:0005408 biolink:NamedThing diabetes mellitus type 2 associated cataract Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism tmpte7i6ely_mondo_relaxed.owl EFO:0004596 owl:Class MONDO:0005129 biolink:NamedThing cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpte7i6ely_mondo_relaxed.owl cataract|cataract (disease)|opacity of the lens cataract (disease) DOID:83|OMIM:601371|ICD9:366.8|NCIT:C26713|EFO:0001059|ICD9:366.9|ICD9:366|OMIM:115900|OMIM:116100|SCTID:193570009|OMIMPS:116200|OMIM:616509|OMIM:616279|ICD10:H26|HP:0000518|MESH:D002386|ICD9:366.44 owl:Class UBERON:0003696 biolink:NamedThing metatarsophalangeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001487 biolink:NamedThing pes joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017907 biolink:NamedThing primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. tmpte7i6ely_mondo_relaxed.owl conjunctiva primary organ-specific lymphoma|conjunctiva lymphoma|primary lymphoid conjunctival tumor|lymphoma of conjunctiva|primary organ-specific lymphoma of conjunctiva ICD10:C85.7|Orphanet:319667|UMLS:CN203974|SCTID:763477007 owl:Class MONDO:0003454 biolink:NamedThing conjunctival cancer A malignant neoplasm involving the conjunctiva. tmpte7i6ely_mondo_relaxed.owl conjunctiva cancer|malignant neoplasm of the conjunctiva|conjunctival tumor|malignant neoplasm of conjunctiva (primary)|malignant conjunctival tumor|malignant tumor of the conjunctiva|malignant conjunctiva neoplasm|malignant neoplasm of conjunctiva|cancer of conjunctiva|malignant tumor of conjunctiva|malignant conjunctiva tumor|malignant conjunctival neoplasm ICD10:C69.0|NCIT:C2961|DOID:5467|NCIT:C3564|SCTID:363463000|ICD9:190.3 owl:Class HGNC:48 biolink:NamedThing ABCB7 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000292 biolink:NamedThing regulation of defecation Any process that modulates the frequency, rate or extent of defecation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100360 biolink:NamedThing herpes simplex type 2 infectious disease A disease caused by infection with herpes simplex type 2. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class GO:0007264 biolink:NamedThing small GTPase mediated signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. tmpte7i6ely_mondo_relaxed.owl small GTPase-mediated signal transduction owl:Class GO:0035556 biolink:NamedThing intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. tmpte7i6ely_mondo_relaxed.owl signal transduction via intracellular signaling cascade|protein kinase cascade|intracellular signaling chain|intracellular signaling cascade|intracellular protein kinase cascade|intracellular signal transduction pathway|signal transmission via intracellular cascade|intracellular signaling pathway owl:Class MONDO:0011669 biolink:NamedThing hypotonia-cystinuria syndrome A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl hypotonia-cystinuria syndrome|HCS|cystinuria with mitochondrial disease|homozygous 2P16 deletion syndrome, formerly|homozygous 2P21 deletion syndrome|homozygous 2P16 deletion syndrome|hypotonia-cystinuria syndrome type 1|hypotonia-cystinuria type 1 syndrome Orphanet:163693|ICD10:E72.0|Orphanet:163690|DOID:0060858|MESH:C564710|OMIM:606407|SCTID:721173005|Orphanet:238517|UMLS:CN226952|Orphanet:238523|EFO:0007550 owl:Class MONDO:0007417 biolink:NamedThing Darier disease Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. tmpte7i6ely_mondo_relaxed.owl DAR|Darier's disease|Darier disease, acral hemorrhagic type|keratosis follicularis|dar|Darier disease, segmental|Darier White disease|Darier-White disease|Darier disease UMLS:C0022595|Wikipedia:Darier%27s_disease|ICD10:E50.8|SCTID:48611009|DOID:2734|NCIT:C84665|OMIM:124200|Orphanet:218|GARD:0006243|MedDRA:10023369|ICD9:757.39|ICD10:Q82.8 owl:Class MONDO:0015209 biolink:NamedThing non-syndromic gastroduodenal malformation A gastroduodenal malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated gastroduodenal malformation|nonsyndromic gastroduodenal malformation Orphanet:108963 owl:Class MONDO:0019998 biolink:NamedThing gastroduodenal malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:97944 owl:Class GO:0004176 biolink:NamedThing ATP-dependent peptidase activity Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis. tmpte7i6ely_mondo_relaxed.owl ATP-dependent proteolysis owl:Class GO:0008233 biolink:NamedThing peptidase activity Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. tmpte7i6ely_mondo_relaxed.owl peptidase activity, acting on L-amino acid peptides|peptide hydrolase activity|peptidase activity, acting on D-amino acid peptides|protease activity|hydrolase, acting on peptide bonds|proteinase activity owl:Class MONDO:0012508 biolink:NamedThing agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. tmpte7i6ely_mondo_relaxed.owl agammaglobulinemia, microcephaly, and severe dermatitis ICD10:Q87.0|OMIM:610483|SCTID:722281001|MESH:C538055|GARD:0010011|UMLS:C1864848|Orphanet:83617 owl:Class UBERON:0011185 biolink:NamedThing gastrointestinal sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002092 biolink:NamedThing brain dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012447 biolink:NamedThing synpolydactyly type 3 tmpte7i6ely_mondo_relaxed.owl SD2, Malik type|synpolydactyly, Malik type|SD2c|synpolydactyly 3|SPD3|SPD, Malik type OMIM:610234|UMLS:C1853255|ICD10:Q70.2|Orphanet:93403|ICD10:Q70.0|MESH:C565216|Orphanet:295199 owl:Class MONDO:0000722 biolink:NamedThing non-syndromic synpolydactyly A synpolydactyly that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic synpolydactyly|synpolydactyly|isolated synpolydactyly MESH:C538153|OMIM:186000|Orphanet:295195|NCIT:C75003|OMIM:610234|DOID:0060242|OMIM:608180 owl:Class MONDO:0004394 biolink:NamedThing maxillary sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of maxillofacial sinus|squamous cell carcinoma of maxillary sinus|maxillary antrum epidermoid carcinoma|squamous cell carcinoma of maxillofacial sinus|epidermoid carcinoma of maxillary antrum|maxillofacial sinus epidermoid carcinoma|epidermoid carcinoma of the maxillofacial sinus|epidermoid carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|epidermoid carcinoma of the maxillary sinus|maxillary sinus squamous cell carcinoma|squamous cell carcinoma of the maxillofacial sinus|maxillary sinus epidermoid carcinoma|maxillofacial sinus squamous cell carcinoma|maxillary antrum squamous cell carcinoma|epidermoid carcinoma of the maxillary antrum|squamous cell carcinoma of the maxillary antrum|squamous cell carcinoma of the maxillary sinus UMLS:C1334647|DOID:7910|NCIT:C6064|SCTID:707354003 owl:Class MONDO:0044705 biolink:NamedThing paranasal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpte7i6ely_mondo_relaxed.owl paranasal sinus squamous cell carcinoma|epidermoid carcinoma of paranasal sinus|squamous cell carcinoma of the nasal cavity and sinuses|epidermoid carcinoma of the paranasal sinus|squamous cell carcinoma of paranasal sinus|squamous cell carcinoma of the paranasal sinus|paranasal sinus epidermoid carcinoma|squamous cell carcinoma of the nasal cavity and paranasal sinuses NCIT:C8193|Orphanet:500464|UMLS:C0280334 owl:Class UBERON:0001225 biolink:NamedThing cortex of kidney tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001851 biolink:NamedThing cortex tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17q21.31 biolink:NamedThing 17q21.31 (Human) tmpte7i6ely_mondo_relaxed.owl 46800000 42800000 hg38 owl:Class MONDO:0020326 biolink:NamedThing lymphomatoid papulosis Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features. tmpte7i6ely_mondo_relaxed.owl LYP|LyP MedDRA:10056670|MESH:D017731|ICD10:C86.6|ICD9:447.8|ICD10:L41.2|Orphanet:98842|ONCOTREE:LYP|NCIT:C3721|UMLS:C0206182|ICDO:9718/1|EFO:1000341|SCTID:31047003|GARD:0006944 https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis owl:Class MONDO:0018897 biolink:NamedThing primary cutaneous CD30+ T-cell lymphoproliferative disease tmpte7i6ely_mondo_relaxed.owl primary cutaneous Ki-1+ T-cell lymphoproliferative disease MESH:D054446|MedDRA:10065863|ICD10:C86.6|Orphanet:541|UMLS:CN205268|UMLS:C1301362 owl:Class MONDO:0002038 biolink:NamedThing head and neck carcinoma A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpte7i6ely_mondo_relaxed.owl carcinoma of the neck|head and neck cancer|carcinoma of craniocervical region|craniocervical region carcinoma|carcinoma of head and neck|neck carcinoma|head and neck carcinoma|carcinoma of the head and neck|carcinoma of neck DOID:1542|UMLS:C1334927|NCIT:C35850|UMLS:C3887461 owl:Class GO:0051090 biolink:NamedThing regulation of DNA-binding transcription factor activity Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpte7i6ely_mondo_relaxed.owl regulation of androgen receptor activity|regulation of transcription factor activity|regulation of sequence-specific DNA binding transcription factor activity|regulation of DNA binding transcription factor activity|regulation of thyroid hormone receptor activity owl:Class MONDO:0020559 biolink:NamedThing O'Sullivan-McLeod syndrome O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. tmpte7i6ely_mondo_relaxed.owl MedDRA:10069682|UMLS:C2721741|Orphanet:99965|ICD10:G12.8 owl:Class MONDO:0011224 biolink:NamedThing monomelic amyotrophy Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy juvenile nonprogressive|juvenile muscular atrophy of the distal upper limb|benign focal amyotrophy|juvenile muscular atrophy of distal upper extremity|JMADUE|spinal muscular atrophy, juvenile, nonprogressive|Hirayama disease|amyotrophy, monomelic EFO:1001989|MESH:C538253|Orphanet:65684|OMIM:602440|UMLS:C1865384|ICD10:G12.8|GARD:0009697|MedDRA:10069681 https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy owl:Class MONDO:0001779 biolink:NamedThing vaginal squamous papilloma A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus. tmpte7i6ely_mondo_relaxed.owl vagina squamous papilloma|vaginal squamous papilloma|squamous papilloma of vagina|squamous papilloma of the vagina NCIT:C6374|UMLS:C1336943|DOID:137 owl:Class MONDO:0001825 biolink:NamedThing squamous papilloma A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva. tmpte7i6ely_mondo_relaxed.owl squamous cell papilloma (morphologic abnormality)|squamous papilloma|papilloma, squamous cell, benign|epidermoid papilloma|keratotic papilloma|epidermoid cell papilloma|squamous cell papilloma NCIT:C3712|DOID:139|ICDO:8052/0|UMLS:C0205874|EFO:1001970|MESH:D010212 owl:Class MONDO:0003220 biolink:NamedThing gallbladder carcinoma A carcinoma that arises from epithelial cells of the gall bladder tmpte7i6ely_mondo_relaxed.owl gall bladder carcinoma|carcinoma of the gallbladder|gallbladder carcinoma|Gall bladder carcinoma (adeno)|carcinoma gallbladder|Gall bladder carcinoma (adenocarcinoma)|gallbladder cancer|carcinoma of gall bladder|carcinoma of gallbladder|cancer of the gallbladder|cancer of gallbladder SCTID:372140005|NCIT:C3844|EFO:1001956|DOID:4948|UMLS:C0235782 owl:Class HGNC:28396 biolink:NamedThing TMEM67 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015263 biolink:NamedThing Brugada syndrome A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. tmpte7i6ely_mondo_relaxed.owl idiopathic ventricular fibrillation, Brugada type|Brugada type idiopathic ventricular fibrillation|right bundle branch block, ST segment elevation, and sudden death syndrome|sudden unexpected nocturnal death syndrome|Brugada syndrome|Bangungut|Pokkuri death syndrome|sudden unexplained nocturnal death syndrome|SUNDS|dream disease UMLS:C1142166|ICD10:I49.8|OMIM:611876|ICD9:746.89|OMIM:613123|OMIM:601144|GARD:0001030|Orphanet:130|MESH:D053840|OMIM:611875|OMIM:612838|DOID:0050451|NCIT:C71059|OMIM:611777|OMIMPS:601144|SCTID:418818005|OMIM:616399|OMIM:613120|OMIM:613119|MedDRA:10059027|NCIT:C142891 owl:Class MONDO:0008999 biolink:NamedThing Cohen syndrome Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. tmpte7i6ely_mondo_relaxed.owl hypotonia, obesity, and prominent incisors|Cohen syndrome|Chs1, formerly|Chs1|cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness|Coh|pepper syndrome|COH1 SCTID:56604005|ICD9:759.89|DOID:0111590|OMIM:216550|MedDRA:10049066|MESH:C536438|Orphanet:193|UMLS:C1854061|ICD10:Q87.8|GARD:0006126 https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome owl:Class MONDO:0009627 biolink:NamedThing Galloway-Mowat syndrome Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|microcephaly nephrosis syndrome|microcephaly-hiatus hernia-nephrotic syndrome|Galloway-Mowat syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|GAMOS|nephrosis-microcephaly syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|hiatal hernia-microcephaly-nephrosis, Galloway type|spinocerebellar ataxia, autosomal recessive 5|Galloway syndrome|nephrosis neuronal dysmigration syndrome|nephrosis-neuronal dysmigration syndrome|Galloway Mowat syndrome|microcephaly, hiatal hernia and nephrotic syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities GARD:0000065|Orphanet:2065|OMIMPS:251300|NCIT:C132195|OMIM:251300|UMLS:C0795949|SCTID:721297008|MESH:C537548|GARD:65|DOID:0080694|ICD10:Q04.3 owl:Class HGNC:2682 biolink:NamedThing DAZ1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011108 biolink:NamedThing synovial joint of pectoral girdle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002217 biolink:NamedThing synovial joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021412 biolink:NamedThing polyp of maxillary sinus A polyp that involves the maxillary sinus. tmpte7i6ely_mondo_relaxed.owl polyp of the maxillary sinus|maxillary antral polyp|maxillary sinus polyp NCIT:C3931|SCTID:29074008|ICD9:471.8|UMLS:C0264239 owl:Class MONDO:0001735 biolink:NamedThing paranasal sinus disorder A disease involving the paranasal sinus. tmpte7i6ely_mondo_relaxed.owl disease or disorder of paranasal sinus|paranasal sinus disease|disorder of nasal sinus|disease of paranasal sinus|disorder of paranasal sinus|paranasal sinus disease or disorder|sinus disorder|paranasal sinus disorder MESH:D010254|DOID:1352|NCIT:C26843|UMLS:C0030469|SCTID:7393007|ICD9:478.1 owl:Class UBERON:0003827 biolink:NamedThing thoracic segment bone tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000703 biolink:NamedThing kidney pelvis urothelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001114 cell owl:Class GO:1904748 biolink:NamedThing regulation of apoptotic process involved in development Any process that modulates the frequency, rate or extent of apoptotic process involved in development. tmpte7i6ely_mondo_relaxed.owl regulation of apoptosis involved in development of an anatomical structure|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of activation of apoptosis involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of apoptotic program involved in development of an anatomical structure|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of apoptotic cell death involved in anatomical structure development|regulation of apoptosis activator activity involved in anatomical structure development|regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of apoptotic process involved in anatomical structure development|regulation of type I programmed cell death involved in anatomical structure development|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of apoptotic process involved in development of an anatomical structure|regulation of apoptotic cell death involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of apoptosis signaling involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of induction of apoptosis involved in anatomical structure development|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of apoptosis involved in anatomical structure development|regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of commitment to apoptosis involved in anatomical structure development owl:Class GO:0050793 biolink:NamedThing regulation of developmental process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013260 biolink:NamedThing esophagitis, eosinophilic, 2 tmpte7i6ely_mondo_relaxed.owl esophagitis, eosinophilic, 2|EOE2 UMLS:C3150679|Orphanet:73247|OMIM:613412 owl:Class MONDO:0005361 biolink:NamedThing eosinophilic esophagitis Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). tmpte7i6ely_mondo_relaxed.owl EoE DOID:13922|MedDRA:10064212|ICD10:K20|UMLS:C0341106|ICD9:530.13|MESH:D057765|NCIT:C27105|EFO:0004232|Orphanet:73247|OMIM:610247|OMIM:613412|SCTID:235599003|ICD10:K20.0 owl:Class HGNC:2321 biolink:NamedThing CPOX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013753 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2P Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2G|CMT 2G|CMT2G|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|Charcot Marie Tooth disease type 2G|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, axonal, type 2G|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth neuropathy, type 2P|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|LRSAM1 Charcot-Marie-Tooth disease|CMT2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth neuropathy type 2P ICD10:G60.0|OMIM:614436|UMLS:C1837805|Orphanet:99941|GARD:0009195|OMIM:608591|UMLS:C3280797|GARD:0012435|UMLS:C4304674|Orphanet:300319|DOID:0110169|SCTID:719511005 https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p owl:Class MONDO:0014389 biolink:NamedThing polyglucosan body myopathy 1 with or without immunodeficiency A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. tmpte7i6ely_mondo_relaxed.owl polyglucosan body myopathy 1 with or without immunodeficiency|polyglucosan body myopathy, early-onset, with or without immunodeficiency|polyglucosan body myopathy type 1|PGBM1 UMLS:C4014605|Orphanet:397937|Orphanet:329173|ICD10:E74.0|OMIM:615895 owl:Class MONDO:0000192 biolink:NamedThing polyglucosan body myopathy tmpte7i6ely_mondo_relaxed.owl UMLS:CN228160|OMIMPS:615895 owl:Class MONDO:0012004 biolink:NamedThing parathyroid gland carcinoma Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors. tmpte7i6ely_mondo_relaxed.owl carcinoma of parathyroid|parathyroid gland adenocarcinoma|carcinoma of the parathyroid gland|cancer of parathyroid gland|parathyroid cancer|cancer of the parathyroid gland|parathyroid adenocarcinoma|adenocarcinoma of the parathyroid gland|parathyroid gland neoplasm|malignant neoplasm of the parathyroid|parathyroid gland cancer|adenocarcinoma of parathyroid gland|carcinoma of parathyroid gland|parathyroid carcinoma|carcinoma of the parathyroid|parathyroid neoplasm|adenocarcinoma of the parathyroid|parathyroid gland carcinoma|PRTC|adenocarcinoma of parathyroid|malignant neoplasm of parathyroid gland ONCOTREE:PTHC|SCTID:127020005|Orphanet:143|SCTID:363481002|NCIT:C9322|ICD9:194.1|NCIT:C4906|OMIM:608266|SCTID:255037004|GARD:0007329|EFO:1000456|DOID:1540|NCIT:C3313|ICD10:C75.0 owl:Class MONDO:0000309 biolink:NamedThing aniseikonia A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other. tmpte7i6ely_mondo_relaxed.owl MESH:D000839|ICD10:H52.32|DOID:0050304|ICD9:367.32|EFO:1001266|SCTID:16059006 owl:Class MONDO:0044884 biolink:NamedThing tonsillar lymphoma A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas. tmpte7i6ely_mondo_relaxed.owl tonsillar lymphoma|tonsil lymphoma|lymphoma of the tonsil|lymphoma of tonsil|Primary tonsillar lymphoma UMLS:C1336765|NCIT:C5918 owl:Class MONDO:0006998 biolink:NamedThing tonsil cancer A primary or metastatic malignant neoplasm that affects the tonsil. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of faucial tonsil|malignant neoplasm of palatine tonsil|malignant tumor of tonsil|malignant neoplasm of the tonsil|malignant tonsillar tumor|tonsil cancer|malignant neoplasm of tonsil, faucial|malignant neoplasm of tonsil|malignant tumor of the tonsil|cancer of tonsil|malignant tonsil neoplasm|malignant tonsil tumor|malignant tonsillar neoplasm MedDRA:10044002|DOID:8858|SCTID:363393007|ICD10:C09.9|NCIT:C7404|ICD10:C09|EFO:1001214|NCIT:C4825|MESH:D014067|UMLS:C0751560|ICD9:146.0 owl:Class MONDO:0003896 biolink:NamedThing breast capillary hemangioma A capillary hemangioma arising from the breast. tmpte7i6ely_mondo_relaxed.owl capillary hemangioma of the breast|breast capillary angioma|capillary angioma of breast|capillary angioma of the breast|capillary hemangioma of breast|breast capillary hemangioma DOID:6491|NCIT:C5210|UMLS:C1332619 owl:Class MONDO:0003126 biolink:NamedThing breast hemangioma A capillary or cavernous hemangioma arising from the breast. tmpte7i6ely_mondo_relaxed.owl hemangioma of breast|breast angioma|breast hemangioma|angioma of breast|hemangioma of the breast|angioma of the breast UMLS:C0853715|NCIT:C5353|DOID:476 owl:Class GO:0010674 biolink:NamedThing negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, meiotic|up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|activation of meiosis by negative regulation of transcription from RNA polymerase II promoter|stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter owl:Class GO:0010672 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl regulation of transcription from RNA polymerase II promoter, meiotic|regulation of meiosis by regulation of transcription from RNA polymerase II promoter owl:Class MONDO:0025708 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 2 tmpte7i6ely_mondo_relaxed.owl MMIHS2 OMIM:619351 owl:Class MONDO:0025986 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:249210 owl:Class MONDO:0012722 biolink:NamedThing Dauwerse-Peters syndrome tmpte7i6ely_mondo_relaxed.owl short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly|short stature, facial dysmorphism, severe brachydactyly and syndactyly|Dauwerse-Peters syndrome OMIM:611733|UMLS:C2673203|GARD:0010568|MESH:C567093 https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome owl:Class CHEBI:33670 biolink:NamedThing heteromonocyclic compound tmpte7i6ely_mondo_relaxed.owl heteromonocyclic compounds|heteromonocyclic compound owl:Class CHEBI:33661 biolink:NamedThing monocyclic compound tmpte7i6ely_mondo_relaxed.owl monocyclic compounds owl:Class UBERON:0006542 biolink:NamedThing outer medulla outer stripe loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001288 biolink:NamedThing loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010630 biolink:NamedThing imprinting gene related to retinoblastoma tmpte7i6ely_mondo_relaxed.owl imprinting gene related to retinoblastoma OMIM:308290 owl:Class MONDO:0010425 biolink:NamedThing Lisch epithelial corneal dystrophy Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, Lisch epithelial|band-shaped and whorled microcystic dystrophy of the corneal epithelium|band-shaped and whorled microcystic|Lisch epithelial corneal dystrophy|band-Shaped and whorled microcystic corneal epithelial dystrophy|LECD MESH:C567588|UMLS:C2749050|ICD10:H18.5|Orphanet:98955|DOID:0060450|OMIM:300778|SCTID:724175002 owl:Class MONDO:0011133 biolink:NamedThing deaf blind hypopigmentation syndrome, Yemenite type Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. tmpte7i6ely_mondo_relaxed.owl Warburg-Thomsen syndrome|Warburg Thomsen syndrome|Yemenite deaf-blind hypopigmentation syndrome|Yemenite (Warburg) deaf-blind hypopigmentation syndrome GARD:0005535|SCTID:721084001|MESH:C536771|OMIM:601706|UMLS:C1866425|Orphanet:3214 owl:Class HGNC:1346 biolink:NamedThing C7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001757 biolink:NamedThing pinna tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001444 biolink:NamedThing subdivision of head tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:7164 biolink:NamedThing Anopheles tmpte7i6ely_mondo_relaxed.owl Anopheles GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43816 biolink:NamedThing Anophelinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021386 biolink:NamedThing neoplasm of mediastinum A neoplasm (disease) that involves the mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinum neoplasm (disease)|neoplasm of mediastinum|neoplasm of the mediastinum|mediastinal neoplasm|tumor of the mediastinum|mediastinum neoplasm|mediastinal tumor|tumor of mediastinum|mediastinum tumor NCIT:C3221|SCTID:126725000|ICD9:239.89 owl:Class MONDO:0043707 biolink:NamedThing mediastinal disorder A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. tmpte7i6ely_mondo_relaxed.owl disorder of mediastinum|disease or disorder of mediastinum|mediastinal disorder|diseases, mediastinal|disease of mediastinum|mediastinum disease|mediastinal disease|disease, mediastinal|mediastinum disease or disorder UMLS:C0025061|MESH:D008477|SCTID:49483002|NCIT:C26826 owl:Class HGNC:29059 biolink:NamedThing IQSEC2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050667 biolink:NamedThing homocysteine metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. tmpte7i6ely_mondo_relaxed.owl Hcy metabolic process|Hcy metabolism|homocysteine metabolism owl:Class GO:1901605 biolink:NamedThing alpha-amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. tmpte7i6ely_mondo_relaxed.owl alpha-amino acid metabolism owl:Class HGNC:7976 biolink:NamedThing NR2F2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009036 biolink:NamedThing cardiocranial syndrome, Pfeiffer type Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). tmpte7i6ely_mondo_relaxed.owl sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|Pfeiffer-Singer-Zschiesche syndrome|Pfeiffer Singer Zschiesche syndrome|Cardiocranial syndrome|craniosynostosis-congenital heart disease-intellectual disability syndrome|craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|Pfeiffer-type cardiocranial syndrome|Pfeiffer Cardiocranial syndrome MESH:C535578|Orphanet:2872|ICD10:Q87.8|GARD:0008586|SCTID:720606005|OMIM:218450|UMLS:C1857495 owl:Class MONDO:0014801 biolink:NamedThing even-plus syndrome tmpte7i6ely_mondo_relaxed.owl epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|even-plus syndrome|epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations|EVPLS Orphanet:496751|UMLS:C4225180|OMIM:616854 owl:Class MONDO:0014892 biolink:NamedThing micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 44|intellectual disability, autosomal dominant 44|autosomal dominant non-syndromic intellectual disability 44|mercer-Ba syndrome|autosomal dominant intellectual disability 44|MRD44|autosomal dominant mental retardation 44|MEBAS Orphanet:476126|DOID:0070074|UMLS:C4310740|OMIM:617061 owl:Class MONDO:0011534 biolink:NamedThing Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1|CMT4G|Charcot-Marie-Tooth neuropathy, type 4G|hereditary motor and sensory neuropathy Russe type|HMSNR|HK1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4G|neuropathy, hereditary motor and sensory, Russe type|hereditary motor and sensory neuropathy, Russe type|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|autosomal recessive Charcot-Marie-Tooth disease type 4G Orphanet:99953|ICD10:G60.0|GARD:0010132|OMIM:605285|SCTID:715799004|DOID:0110196|UMLS:C1854449|MESH:C535813 owl:Class MONDO:0002316 biolink:NamedThing motor peripheral neuropathy Inflammation or degeneration of the peripheral motor nerves. tmpte7i6ely_mondo_relaxed.owl HSMN - hereditary sensory and motor neuropathy|neuropathic muscular atrophy|peripheral motor neuropathy|HSMN|hereditary motor and sensory neuropathy NCIT:C3500|ICD10:G60.0|NCIT:C75467|ICD9:356.9|SCTID:95663000|DOID:2477 owl:Class UBERON:0002047 biolink:NamedThing pontine raphe nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006331 biolink:NamedThing brainstem nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905789 biolink:NamedThing positive regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that activates or increases the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpte7i6ely_mondo_relaxed.owl upregulation of sensory transduction of mechanical stimulus during perception of touch|activation of detection of mechanical stimulus involved in sensory perception of touch|up regulation of perception of touch, detection of mechanical stimulus|up-regulation of perception of touch, sensory detection of mechanical stimulus|activation of tactition, sensory detection of mechanical stimulus|activation of sensory transduction of mechanical stimulus during perception of touch|up-regulation of sensory detection of mechanical stimulus during perception of touch|up-regulation of sensory transduction of mechanical stimulus during perception of touch|upregulation of perception of touch, sensory detection of mechanical stimulus|up regulation of detection of mechanical stimulus involved in sensory perception of touch|activation of perception of touch, sensory detection of mechanical stimulus|positive regulation of perception of touch, detection of mechanical stimulus|up-regulation of tactition, sensory detection of mechanical stimulus|up regulation of sensory detection of mechanical stimulus during perception of touch|up regulation of tactition, sensory detection of mechanical stimulus|upregulation of sensory detection of mechanical stimulus during perception of touch|activation of sensory detection of mechanical stimulus during perception of touch|activation of perception of touch, detection of mechanical stimulus|up-regulation of perception of touch, detection of mechanical stimulus|positive regulation of tactition, sensory detection of mechanical stimulus|up regulation of perception of touch, sensory detection of mechanical stimulus|positive regulation of perception of touch, sensory transduction of mechanical stimulus|positive regulation of sensory transduction of mechanical stimulus during perception of touch|upregulation of perception of touch, detection of mechanical stimulus|positive regulation of sensory detection of mechanical stimulus during perception of touch|upregulation of detection of mechanical stimulus involved in sensory perception of touch|up-regulation of perception of touch, sensory transduction of mechanical stimulus|positive regulation of perception of touch, sensory detection of mechanical stimulus|up regulation of sensory transduction of mechanical stimulus during perception of touch|activation of perception of touch, sensory transduction of mechanical stimulus|up regulation of perception of touch, sensory transduction of mechanical stimulus|upregulation of perception of touch, sensory transduction of mechanical stimulus|up-regulation of detection of mechanical stimulus involved in sensory perception of touch|upregulation of tactition, sensory detection of mechanical stimulus owl:Class GO:0032103 biolink:NamedThing positive regulation of response to external stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl upregulation of response to external stimulus|stimulation of response to external stimulus|up regulation of response to external stimulus|up-regulation of response to external stimulus|activation of response to external stimulus owl:Class UBERON:0015787 biolink:NamedThing upper respiratory conduit tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004111 biolink:NamedThing anatomical conduit tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13711 biolink:NamedThing POF1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011792 biolink:NamedThing thyroid dyshormonogenesis 6 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene. tmpte7i6ely_mondo_relaxed.owl familial thyroid dyshormonogenesis caused by mutation in DUOX2|thyroid hormonogenesis, genetic defect in, 6|thyroid dyshormonogenesis type 6|DUOX2 familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 6|TDH6|hypothyroidism, congenital, due to dyshormonogenesis, 6 UMLS:C1846632|MESH:C564608|Orphanet:95716|OMIM:607200 owl:Class MONDO:0010132 biolink:NamedThing familial thyroid dyshormonogenesis A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. tmpte7i6ely_mondo_relaxed.owl thyroid dyshormonogenesis|dyshormonogenesis|nongoitrous hyperthyrotropinemia NCIT:C121751|OMIM:607200|OMIM:274900|ICD10:E03.1|OMIM:274400|OMIM:274800|UMLS:C1848805|OMIM:274500|Orphanet:95716|SCTID:718183003|MESH:C564766|ICD10:E03.0|OMIM:274700 https://github.com/monarch-initiative/mondo/issues/642 owl:Class GO:0010977 biolink:NamedThing negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpte7i6ely_mondo_relaxed.owl negative regulation of neurite growth|negative regulation of neurite biosynthesis|negative regulation of neurite formation|negative regulation of neurite development|growth cone collapse owl:Class GO:0031345 biolink:NamedThing negative regulation of cell projection organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpte7i6ely_mondo_relaxed.owl downregulation of cell projection organization|down-regulation of cell projection organization|negative regulation of cell projection organisation|down regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|inhibition of cell projection organization owl:Class HP:0000479 biolink:NamedThing Abnormal retinal morphology A structural abnormality of the retina. tmpte7i6ely_mondo_relaxed.owl Abnormal retina|Abnormality of the retina|Retina issue|Retinal disease|Anomaly of the retina MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035309|UMLS:C0035300 HP:0007938 human_phenotype owl:Class HP:0001098 biolink:NamedThing Abnormal fundus morphology Any structural abnormality of the fundus of the eye. tmpte7i6ely_mondo_relaxed.owl Abnormality of the fundus UMLS:C4025804 human_phenotype owl:Class CL:1000329 biolink:NamedThing tracheal goblet cell A goblet cell that is part of the epithelium of trachea. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of trachea FMA:263075 cell owl:Class CL:0019003 biolink:NamedThing tracheobronchial goblet cell Any goblet cell that is part of the tracheobronchial epithelium. tmpte7i6ely_mondo_relaxed.owl goblet cell of tracheobronchial tree 2020-05-07 18:14:52+00:00 owl:Class MONDO:0007264 biolink:NamedThing sudden cardiac arrest An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms. tmpte7i6ely_mondo_relaxed.owl heart conduction disorder|cardiac conduction disorder|cardiac conduction defect|familial sudden death|sudden cardiac death|conduction disorder|disorder of cardiac conduction NCIT:C50911|EFO:0004278|NCIT:C78245|Orphanet:871|OMIM:115080|SCTID:95281009 Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. owl:Class MONDO:0007263 biolink:NamedThing cardiac rhythm disease Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. tmpte7i6ely_mondo_relaxed.owl arrhythmia EFO:0004269|SCTID:698247007|NCIT:C2881|ICD9:427.9 owl:Class MONDO:0036511 biolink:NamedThing childhood malignant kidney neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. tmpte7i6ely_mondo_relaxed.owl childhood malignant renal neoplasm|childhood malignant renal tumor|pediatric kidney cancer|childhood malignant kidney tumor|childhood kidney cancer|childhood malignant kidney neoplasm|kidney cancer of childhood UMLS:C4086162|NCIT:C123907 owl:Class MONDO:0002730 biolink:NamedThing childhood kidney neoplasm A kidney neoplasm that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric renal neoplasm|childhood kidney neoplasm|childhood kidney tumor|pediatric kidney tumor|kidney neoplasm of childhood|pediatric kidney neoplasm|pediatric renal tumor|childhood renal tumor|kidney neoplasm|childhood renal neoplasm DOID:3675|UMLS:C1333003|NCIT:C6563 owl:Class MONDO:0007900 biolink:NamedThing nonsyndromic congenital nail disorder 3 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. tmpte7i6ely_mondo_relaxed.owl nail disorder, nonsyndromic congenital, 3|leukonychia totalis multiple sebaceous cysts renal calculi|leukonychia Striatus|leukonychia punctata|leukonychia totalis and/or partialis|nail disorder, nonsyndromic congenital, type 3|nonsyndromic congenital nail disorder type 3|inherited isolated nail anomaly caused by mutation in PLCD1|porcelain nails|Gorlin Bushkell Jensen syndrome|NDNC3|PLCD1 inherited isolated nail anomaly MESH:C537289|Orphanet:2387|OMIM:151600|ICD9:703.8|GARD:0002555|DOID:0080081|SCTID:74102009 https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome owl:Class MONDO:0019284 biolink:NamedThing inherited isolated nail anomaly A nail anomaly that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated nail anomaly|nail disorder, nonsyndromic congenital|nonsyndromic nail anomaly OMIMPS:161050|Orphanet:79369 owl:Class MONDO:0018945 biolink:NamedThing McLeod neuroacanthocytosis syndrome A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. tmpte7i6ely_mondo_relaxed.owl MCLDS|McLeod phenotype|neuroacanthocytosis, McLeod type|X-linked McLeod syndrome|McLeod syndrome|MLS|McLeod syndrome with chronic granulomatous disease MESH:C564038|SCTID:234411007|HGNC:12811|ICD10:G10|GARD:0010731|Orphanet:59306|OMIM:300842|ICD9:289.89 https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome owl:Class UBERON:0000039 biolink:NamedThing follicular antrum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000076 biolink:NamedThing external ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32876 biolink:NamedThing tertiary amine A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups. tmpte7i6ely_mondo_relaxed.owl tertiaeres Amin|Tertiary amine|R3N|tertiary amines owl:Class CHEBI:32952 biolink:NamedThing amine A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. tmpte7i6ely_mondo_relaxed.owl Amine|Amin|amines|Substituted amine owl:Class MONDO:0015435 biolink:NamedThing ring chromosome 19 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. tmpte7i6ely_mondo_relaxed.owl Ring 19|R19|chromosome 19 ring|Ring chromosome 19 syndrome|Ring chromosome type 19 GARD:0001333|UMLS:CN036553|SCTID:765484001|MESH:C538310|Orphanet:1443|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19 owl:Class MONDO:0700024 biolink:NamedThing chromosome 19 disorder Chromosomal disorder in which chromosome 19 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0002808 biolink:NamedThing pancreatic serous cystadenoma A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. tmpte7i6ely_mondo_relaxed.owl pancreas serous cystadenoma|pancreatic microcystic adenoma|serous cystadenoma of the pancreas|pancreatic serous cystadenoma|serous cystadenoma of pancreas|PSC DOID:3917|ONCOTREE:PSC|UMLS:C1335316|NCIT:C5712 owl:Class MONDO:0005177 biolink:NamedThing serous cystadenoma A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion. tmpte7i6ely_mondo_relaxed.owl serous cystoma|serous cystadenoma EFO:0002504|ICDO:8441/0|NCIT:C3783 owl:Class UBERON:0004857 biolink:NamedThing skeletal muscle connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008520 biolink:NamedThing brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. tmpte7i6ely_mondo_relaxed.owl brachydactyly with Joint dysplasia|LIEBENBERG syndrome|brachydactyly-joint dysplasia syndrome|carpal synostosis with dysplastic elbow joints and brachydactyly|Liebenberg syndrome|LBNBG|brachydactyly elbow wrist dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly|brachydactyly with joint dysplasia SCTID:764437006|GARD:0000966|OMIM:186550|UMLS:C1861313|ICD10:Q73.8|MESH:C566090|Orphanet:1275 https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia owl:Class MONDO:0010980 biolink:NamedThing midline malformations, multiple, with limb abnormalities and hypopituitarism tmpte7i6ely_mondo_relaxed.owl midline malformations, multiple, with limb abnormalities and hypopituitarism|Dincsoy-Salih-Patel syndrome|Dincsoy syndrome Orphanet:1678|MESH:C536177|UMLS:C1832874|OMIM:601016 owl:Class UBERON:0009651 biolink:NamedThing nephron tubule basement membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005769 biolink:NamedThing basement membrane of epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042493 biolink:NamedThing gastric non-hodgkin lymphoma An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpte7i6ely_mondo_relaxed.owl gastric non-Hodgkin lymphoma|non-Hodgkin's lymphoma of the stomach|lymphoma, gastric non Hodgkins type|stomach non-Hodgkin lymphoma|stomach lymphoma, non-Hodgkins type|non-Hodgkin's lymphoma of stomach|gastric non-Hodgkin's lymphoma|primary gastric non-Hodgkin's lymphoma|non-Hodgkins gastric lymphoma|non-Hodgkin lymphoma of stomach SCTID:448709005|NCIT:C27235|UMLS:C1333784|GARD:0000089 owl:Class MONDO:0018908 biolink:NamedThing non-Hodgkin lymphoma Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. tmpte7i6ely_mondo_relaxed.owl non-Hodgkin's lymphoma|non-Hodgkins lymphoma|NHL|non-Hodgkin lymphoma|non-Hodgkin's lymphoma (NHL) ONCOTREE:NHL|EFO:0005952|MESH:D008228|NCIT:C3211|Orphanet:547|UMLS:C0024305|OMIM:605027|MedDRA:10029547|DOID:0060060|ICDO:9591/3 owl:Class CHEBI:24913 biolink:NamedThing isoprenoid Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. tmpte7i6ely_mondo_relaxed.owl isoprenoids|isoprenoid owl:Class CHEBI:18059 biolink:NamedThing lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. tmpte7i6ely_mondo_relaxed.owl Lipid|lipids owl:Class GO:1905880 biolink:NamedThing negative regulation of oogenesis Any process that stops, prevents or reduces the frequency, rate or extent of oogenesis. tmpte7i6ely_mondo_relaxed.owl inhibition of ovum development|down regulation of ovum development|downregulation of oogenesis|negative regulation of ovum development|downregulation of ovum development|down-regulation of ovum development|inhibition of oogenesis|down-regulation of oogenesis|down regulation of oogenesis owl:Class GO:2000242 biolink:NamedThing negative regulation of reproductive process Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003548 biolink:NamedThing adenosquamous breast carcinoma An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation. tmpte7i6ely_mondo_relaxed.owl metaplastic adenosquamous carcinoma|breast adenosquamous carcinoma|adenosquamous breast carcinoma NCIT:C40361|DOID:5623|ONCOTREE:MASC|UMLS:C1510796 Editor note: check ONCOTREE mapping owl:Class MONDO:0006056 biolink:NamedThing squamous cell breast carcinoma A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells. tmpte7i6ely_mondo_relaxed.owl squamous carcinoma of the breast|breast squamous cell carcinoma|squamous carcinoma of breast|squamous cell carcinoma of the breast|primary squamous cell breast carcinoma|scc of breast|scc of the breast|primary squamous cell carcinoma of the breast|breast primary squamous cell carcinoma|squamous breast carcinoma|primary squamous cell carcinoma of breast|squamous cell carcinoma of breast|squamous cell breast carcinoma|metaplastic squamous cell carcinoma EFO:1000053|ONCOTREE:MSCC|UMLS:C1336079|NCIT:C5177|DOID:5514 owl:Class MONDO:0018303 biolink:NamedThing generalized isolated dystonia tmpte7i6ely_mondo_relaxed.owl ICD10:G24.1|Orphanet:376724 Editor note: consider merging with generalized dystonia if no complex forms owl:Class MONDO:0000476 biolink:NamedThing generalized dystonia tmpte7i6ely_mondo_relaxed.owl torsion dystonia, Idiopathic|dystonias, torsion|Idiopathic torsion dystonia|dystonia 12|familial dystonia|Idiopathic torsion dystonias|dystonia musculorum deformans|dystonias, Idiopathic torsion|Progressive torsion spasm|idiopathic non-familial dystonia|idiopathic torsion dystonia|torsion disease, childhood|torsion dystonia|symptomatic torsion dystonia|dystonia deformans musculorum|spasm, Progressive torsion|childhood torsion disease|idiopathic familial dystonia|fragments of torsion dystonia|Oppenheim-Ziehen disease|Oppenheim Ziehen disease|dystonia deformans progressiva|torsion disease of childhood|torsion spasm, Progressive|dystonia, Idiopathic torsion ICD10:G24.1|ICD10:G24.2|ICD9:333.8|DOID:0050835|MESH:D004422|UMLS:C0013423|ICD9:333.89|SCTID:425492002|MESH:D020821|ICD9:333.6 Editor note: TODO owl:Class MONDO:0013642 biolink:NamedThing holoprosencephaly 11 Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly caused by mutation in CDON|CDON holoprosencephaly|holoprosencephaly type 11|holoprosencephaly 11|HPE11 OMIM:614226|Orphanet:2162|DOID:0110877|UMLS:C3280215 owl:Class MONDO:0016296 biolink:NamedThing holoprosencephaly Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. tmpte7i6ely_mondo_relaxed.owl HPE|holoprosencephaly sequence OMIM:147250|GARD:0006665|OMIM:142946|MESH:D016142|MedDRA:10056304|OMIM:614226|OMIM:605934|OMIM:142945|SCTID:30915001|OMIM:157170|OMIM:236100|OMIM:612530|Orphanet:2162|ICD10:Q04.2|OMIM:609637|DOID:4621|OMIM:610828|OMIMPS:236100|UMLS:C0079541|NCIT:C74988|OMIM:610829|OMIM:609408 https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly owl:Class MONDO:0009483 biolink:NamedThing kapur-Toriello syndrome Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. tmpte7i6ely_mondo_relaxed.owl long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|kapur-Toriello syndrome|long columella with cleft lip/palate and eye, heart and intestinal anomalies|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur Toriello syndrome ICD10:Q87.8|OMIM:244300|Orphanet:2328|SCTID:722031003|UMLS:C0796005|MESH:C537008|GARD:0003078 https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome owl:Class CHEBI:17359 biolink:NamedThing sulfite A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3). tmpte7i6ely_mondo_relaxed.owl sulfite|trioxidosulfate(2-)|sulphite|trioxosulfate(2-)|SULFITE ION|trioxosulfate(IV)|SO3|SO3(2-)|[SO3](2-) owl:Class CHEBI:48154 biolink:NamedThing sulfur oxide tmpte7i6ely_mondo_relaxed.owl oxides of sulfur|sulfur oxides|Schwefeloxide owl:Class MONDO:0004260 biolink:NamedThing peptic ulcer perforation Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. tmpte7i6ely_mondo_relaxed.owl acute peptic ulcer with perforation|perforated peptic ulcer|peptic ulcer with perforation DOID:752|UMLS:C0267291|SCTID:79118000|MESH:D010439|UMLS:C0030925|EFO:1001389 owl:Class MONDO:0004247 biolink:NamedThing peptic ulcer disease A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. tmpte7i6ely_mondo_relaxed.owl acute peptic ulcer with hemorrhage and perforation|peptic ulcer|acute peptic ulcer with hemorrhage|acute peptic ulcer without hemorrhage and without perforation DOID:750|SCTID:13200003|ICD10:K27|ICD9:533|MESH:D010437|NCIT:C3318|UMLS:C0030920 owl:Class MONDO:0006132 biolink:NamedThing cervical adenoid basal carcinoma A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations. tmpte7i6ely_mondo_relaxed.owl cervical adenoid basal cancer EFO:1000160|DOID:6428|NCIT:C40213|ONCOTREE:CABC|UMLS:C1516403 owl:Class MONDO:0005131 biolink:NamedThing cervical carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. tmpte7i6ely_mondo_relaxed.owl cervix uteri carcinoma|cervical cancer, NOS|cervix carcinoma|carcinoma of cervix uteri|cancer of the uterine cervix|carcinoma of cervix|carcinoma of the uterine cervix|uterine cervix carcinoma|cervical carcinoma|uterine cervix cancer|cancer of uterine cervix|cervix cancer|carcinoma of the cervix|cancer of the cervix|carcinoma cervix uteri|carcinoma of the cervix uteri|cervical cancer|carcinoma of uterine cervix|cancer of cervix DOID:2893|NCIT:C9039|UMLS:C0302592|OMIM:603956|SCTID:285432005|DOID:4362|EFO:0001061 owl:Class MONDO:0000337 biolink:NamedThing exanthema subitum An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. tmpte7i6ely_mondo_relaxed.owl pseudorubella|roseola|sixth disease|exanthem subitum|roseola Infantum NCIT:C128420|ICD10:B08.2|ICD9:058.10|UMLS:C0015231|ICD9:058.1|SCTID:54385001|ICD10:B08.20|ICD9:057.8|EFO:1001320|DOID:0050495|MESH:D005077|UMLS:C0595993 owl:Class MONDO:0009952 biolink:NamedThing radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). tmpte7i6ely_mondo_relaxed.owl unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|der Kaloustian mcintosh silver syndrome|radioulnar synostosis with developmental delay and hypotonia syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|Der Kaloustian-McIntosh-Silver syndrome|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia MESH:C538217|GARD:0001810|Orphanet:3270|ICD10:Q87.8|MESH:C564856|OMIM:266255|SCTID:721883006 https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome owl:Class MONDO:0001411 biolink:NamedThing synostosis A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. tmpte7i6ely_mondo_relaxed.owl DOID:11971|MESH:D013580 owl:Class MONDO:0014656 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene. tmpte7i6ely_mondo_relaxed.owl RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1|PEOB2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2 Orphanet:329336|DOID:0111515|UMLS:C4225312|OMIM:616479 owl:Class MONDO:0000090 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia with mtDNA deletions OMIMPS:157640|UMLS:CN239267 owl:Class CL:0000541 biolink:NamedThing melanoblast A cell that originates from the neural crest and differentiates into a pigment cell. tmpte7i6ely_mondo_relaxed.owl BTO:0003217|FMA:83377 Derived from UBERON:0002342 neural crest. cell owl:Class MONDO:0001712 biolink:NamedThing alexia A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases. tmpte7i6ely_mondo_relaxed.owl Blindnesses, acquired Word|reading disability, acquired|dyslexia, acquired global|reading disabilities, acquired|blindness, acquired Word|alexia, acquired|acquired alexia|Word blindness, acquired|acquired Word Blindnesses|acquired Word blindness|disabilities, acquired reading|aphemesthaesia|disability, acquired reading|acquired reading disability|dyslexia, acquired spelling|acquired dyslexia|acquired spelling dyslexia|spelling dyslexia, acquired|acquired reading disabilities|global dyslexia, acquired|Word Blindnesses, acquired|acquired global dyslexia MESH:D004411|ICD9:315.01|DOID:13417 owl:Class MONDO:0002039 biolink:NamedThing cognitive disorder A disease affects cognitive processes. tmpte7i6ely_mondo_relaxed.owl organic mental disorder|cognitive disorder|cognitive disease DOID:1561|EFO:1001457|ICD10:F09|NCIT:C92196|MESH:D019965|ICD9:294.9|SCTID:443265004 owl:Class MONDO:0032750 biolink:NamedThing arthrogryposis, distal, type 2B2 tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, type 2B2|DA2B2 DOID:0111601|OMIM:618435 owl:Class MONDO:0011128 biolink:NamedThing Sheldon-hall syndrome Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. tmpte7i6ely_mondo_relaxed.owl distal arthrogryposis type 2B|Freeman Sheldon syndrome, variant|Sheldon-Hall syndrome|arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|arthrogryposis, distal, type 2B|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities|DA2B|Freeman-Sheldon syndrome variant|Freeman Sheldon variant|arthrogryposis multiplex congenita, distal, type 2B|arthrogryposis multiplex congenita distal type 2B UMLS:C1834523|OMIM:616266|Orphanet:1147|DOID:0111599|GARD:0009909|ICD10:Q68.8 owl:Class MONDO:0004841 biolink:NamedThing kidney hypertrophy Global enlargement of the renal parenchyma in one or both kidneys. tmpte7i6ely_mondo_relaxed.owl renal Hypertrophy|hypertrophy of the kidney ICD9:593.1|ICD10:N28.81|SCTID:88531004|UMLS:C0156259|NCIT:C122991|DOID:9622 owl:Class HGNC:4679 biolink:NamedThing GUCA1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018613 biolink:NamedThing AH amyloidosis tmpte7i6ely_mondo_relaxed.owl heavy chain amyloidosis Orphanet:442582|ICD10:E85.9 owl:Class HGNC:22923 biolink:NamedThing GMPPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016961 biolink:NamedThing partial duplication of the long arm of chromosome 10 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome 10q|partial trisomy of the long arm of chromosome 10|partial trisomy of chromosome 10q Orphanet:262914 MONDO:0042978 owl:Class MONDO:0003985 biolink:NamedThing chest wall lymphoma A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas. tmpte7i6ely_mondo_relaxed.owl primary chest wall lymphoma|chest wall cancer|lymphoma of the chest wall|lymphoma of chest wall|chest wall lymphoma NCIT:C6712|UMLS:C1332933|SCTID:712750007|NCIT:C4580|UMLS:C0346948|DOID:6758 owl:Class MONDO:0021323 biolink:NamedThing malignant neoplasm of chest wall A cancer that involves the chest wall. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the chest wall|chest wall cancer|malignant chest wall tumor|malignant chest wall neoplasm|cancer of chest wall|malignant tumor of the chest wall|malignant tumor of chest wall|malignant neoplasm of chest wall NCIT:C4580|SCTID:712750007|UMLS:C0346948 owl:Class HGNC:16762 biolink:NamedThing ZNF423 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29521 biolink:NamedThing C12orf57 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020240 biolink:NamedThing syndromic retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic retinitis pigmentosa|syndrome associated with retinitis pigmentosa Orphanet:98661|UMLS:CN227834 owl:Class UBERON:0012336 biolink:NamedThing perianal skin tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001415 biolink:NamedThing skin of pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045669 biolink:NamedThing positive regulation of osteoblast differentiation Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. tmpte7i6ely_mondo_relaxed.owl upregulation of osteoblast differentiation|up regulation of osteoblast differentiation|activation of osteoblast differentiation|up-regulation of osteoblast differentiation|stimulation of osteoblast differentiation owl:Class GO:0045667 biolink:NamedThing regulation of osteoblast differentiation Any process that modulates the frequency, rate or extent of osteoblast differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003565 biolink:NamedThing urethral villous adenoma An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern. tmpte7i6ely_mondo_relaxed.owl urethral villous adenoma|urethra villous adenoma DOID:5643|NCIT:C39872|UMLS:C1519828 owl:Class MONDO:0000502 biolink:NamedThing villous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. tmpte7i6ely_mondo_relaxed.owl villous adenoma DOID:0050869|ICDO:8261/0|UMLS:C0206674|NCIT:C7399|MESH:D018253 owl:Class MONDO:0009589 biolink:NamedThing mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl mesomelic dwarfism cleft palate camptodactyly|mesomelic limb shortening and bowing|mesomelic dysplasia, Kozlowski-Reardon type|Reardon-Hall-Slaney syndrome|mesomelic dysplasia, Reardon type GARD:0003552|ICD10:Q78.8|MESH:C565404|SCTID:715471007|OMIM:249710|Orphanet:2631 https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly owl:Class MONDO:0019027 biolink:NamedThing otopalatodigital syndrome Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. tmpte7i6ely_mondo_relaxed.owl oto-palato-digital syndrome|oto-palatal-digital syndrome|Taybi syndrome|type 2 (Andre syndrome) Orphanet:669|ICD10:Q87.0|OMIM:311300|GARD:0007293|OMIM:304120|UMLS:CN205496|SCTID:767130007 owl:Class GO:0051235 biolink:NamedThing maintenance of location Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. tmpte7i6ely_mondo_relaxed.owl maintenance of localization|storage|sequestering|retention owl:Class MONDO:0017382 biolink:NamedThing familial clubfoot due to 5q31 microdeletion tmpte7i6ely_mondo_relaxed.owl hereditary clubfoot due to 5q31 microdeletion OMIM:119800|Orphanet:293144|UMLS:CN203109|ICD10:Q66.8 owl:Class MONDO:0007342 biolink:NamedThing clubfoot The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. tmpte7i6ely_mondo_relaxed.owl congenital talipes equinovarus|club foot|CCF|clubbed foot|congenital clubfoot|congenital equinovarus|equinovarus deformity of foot (finding)|talipes equinovarus|equinovarus deformity of foot|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly|talipes Orphanet:293144|NCIT:C84641|ICD10:Q66.0|Orphanet:293150|ICD10:Q66.89|Orphanet:199315|MESH:D003025|ICD9:754.51|DOID:11836|SCTID:397932003|OMIM:119800 owl:Class UBERON:0008835 biolink:NamedThing hepatic diverticulum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009497 biolink:NamedThing epithelium of foregut-midgut junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044972 biolink:NamedThing eosinophil disorder A disease or disorder that involves the eosinophil. tmpte7i6ely_mondo_relaxed.owl disease of eosinophil|disease or disorder of eosinophil|eosinophil disease or disorder|disorder of eosinophil SCTID:417967008|UMLS:C1691020 owl:Class MONDO:0014289 biolink:NamedThing macrocephaly-developmental delay syndrome Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive type 41|intellectual disability, autosomal recessive type 41|intellectual disability, autosomal recessive 41|mental retardation, autosomal recessive 41|MRT41 Orphanet:397612|ICD10:Q75.3|UMLS:C3810225|OMIM:615637 owl:Class HGNC:932 biolink:NamedThing BAAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019357 biolink:NamedThing congenital narrowing of cervical spinal canal Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. tmpte7i6ely_mondo_relaxed.owl congenital stenosis of the cervical spine|congenital cervical spinal stenosis ICD10:Q06.8|Orphanet:831 owl:Class MONDO:0015141 biolink:NamedThing disorder of medulla oblongata A disease that involves the medulla oblongata. tmpte7i6ely_mondo_relaxed.owl disease or disorder of medulla oblongata|medullar disease|disease of medulla oblongata|medulla oblongata disease or disorder|disorder of medulla oblongata|medulla oblongata disease UMLS:CN197487|Orphanet:102000 owl:Class HGNC:30032 biolink:NamedThing PACS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19087 biolink:NamedThing EBF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008540 biolink:NamedThing extensor tendons of finger anomalies tmpte7i6ely_mondo_relaxed.owl Hapnes Boman Skeie syndrome|Hapnes-Boman-Skeie syndrome|tendons, extensor, of fingers, anomalous insertion OF|anomalous insertion of extensor tendons of fingers UMLS:C2931376|MESH:C566068|OMIM:187390|GARD:0002597|Orphanet:3294 owl:Class MONDO:0008865 biolink:NamedThing Bietti crystalline corneoretinal dystrophy Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness. tmpte7i6ely_mondo_relaxed.owl Bietti crystalline retinopathy|Bietti crystalline corneoretinal dystrophy|Bietti tapetoretinal Degeneration with marginal corneal dystrophy|Bietti crystalline dystrophy|Bietti's crystalline dystrophy|BCD DOID:0050664|GARD:0010050|SCTID:312927001|ICD10:H15.5|UMLS:C1859486|MESH:C535440|OMIM:210370|Orphanet:41751 https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy owl:Class MONDO:0016420 biolink:NamedThing familial flecked retinopathy tmpte7i6ely_mondo_relaxed.owl hereditary flecked retinopathy ICD10:H35.5|Orphanet:227786|UMLS:CN226924 owl:Class MONDO:0004780 biolink:NamedThing strictly posterior acute myocardial infarction tmpte7i6ely_mondo_relaxed.owl ICD9:410.60|DOID:9407 owl:Class MONDO:0004781 biolink:NamedThing acute myocardial infarction Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. tmpte7i6ely_mondo_relaxed.owl myocardial infarction (disease), acute|acute myocardial infarction (disease) ICD9:410.90|ICD9:410.9|ICD10:I21.3|EFO:0008583|ICD9:410|NCIT:C35204|ICD9:410.80|ICD9:410.92|SCTID:57054005|ICD9:410.81|DOID:9408|ICD9:410.82|ICD10:I21.9|ICD9:410.91|UMLS:C0155626 owl:Class MONDO:0015504 biolink:NamedThing larynx anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:156249|ICD10:Q31.5|ICD10:Q31.3|ICD10:Q31.0|ICD10:Q31.8|ICD10:Q31.1|ICD10:Q31.9 owl:Class MONDO:0018688 biolink:NamedThing anti-p200 pemphigoid tmpte7i6ely_mondo_relaxed.owl Orphanet:454710|EFO:0008597|ICD10:L12.8|UMLS:CN237754 owl:Class MONDO:0019337 biolink:NamedThing autoimmune bullous skin disease An autoimmune disease characterized by blisters on the skin. tmpte7i6ely_mondo_relaxed.owl bullous dermatosis|bullous skin disease SCTID:7231009|ICD9:694.8|DOID:8502|EFO:1000673|Orphanet:79669|UMLS:CN206006|ICD9:694.9 owl:Class MONDO:0017450 biolink:NamedThing split foot tmpte7i6ely_mondo_relaxed.owl split foot (disease)|split foot split foot (disease) Orphanet:294994|ICD10:Q72.7|HP:0001839|SCTID:205358006 owl:Class MONDO:0017423 biolink:NamedThing split hand or/and split foot malformation tmpte7i6ely_mondo_relaxed.owl ICD10:Q72.7|ICD10:Q71.6|Orphanet:294935 Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss) owl:Class MONDO:0016861 biolink:NamedThing Alagille syndrome due to 20p12 microdeletion tmpte7i6ely_mondo_relaxed.owl Alagille syndrome due to monosomy 20p12|Arteriohepatic dysplasia due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12|Alagille-Watson syndrome due to monosomy 20p12|Alagille syndrome due to del(20)(p12) Orphanet:261600|UMLS:CN202205|ICD10:Q44.7|OMIM:118450 owl:Class NCBITaxon:72041 biolink:NamedThing Eumalacostraca tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6681 biolink:NamedThing Malacostraca tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013941 biolink:NamedThing metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. tmpte7i6ely_mondo_relaxed.owl metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria UMLS:C3553958|Orphanet:99646|OMIM:614875 owl:Class GO:2001022 biolink:NamedThing positive regulation of response to DNA damage stimulus Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. tmpte7i6ely_mondo_relaxed.owl positive regulation of DNA damage response|positive regulation of response to genotoxic stress|positive regulation of cellular DNA damage response|positive regulation of cellular response to DNA damage stimulus owl:Class GO:0048522 biolink:NamedThing positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpte7i6ely_mondo_relaxed.owl up regulation of cellular process|positive regulation of cellular physiological process|up-regulation of cellular process|stimulation of cellular process|upregulation of cellular process|activation of cellular process owl:Class ENVO:00000447 biolink:NamedThing marine biome An aquatic biome which is determined by a marine water body. tmpte7i6ely_mondo_relaxed.owl marine realm owl:Class ENVO:00002030 biolink:NamedThing aquatic biome A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018247 biolink:NamedThing CADDS tmpte7i6ely_mondo_relaxed.owl CADDS|contiguous ABCD1 DXS1357E deletion syndrome|Zellweger-like contiguous gene deletion syndrome UMLS:CN180200|Orphanet:369942|OMIM:300475|GARD:0012472|ICD10:Q87.8 owl:Class CHEBI:24835 biolink:NamedThing inorganic molecular entity A molecular entity that contains no carbon. tmpte7i6ely_mondo_relaxed.owl inorganic molecular entities|anorganische Verbindungen|inorganic compounds|inorganics|inorganic entity owl:Class CHEBI:23367 biolink:NamedThing molecular entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. tmpte7i6ely_mondo_relaxed.owl entidades moleculares|entidad molecular|molecular entities|molekulare Entitaet|entite moleculaire|molecular entity owl:Class GO:1901362 biolink:NamedThing organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. tmpte7i6ely_mondo_relaxed.owl organic cyclic compound synthesis|organic cyclic compound anabolism|organic cyclic compound formation|organic cyclic compound biosynthesis owl:Class MONDO:0014407 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene. tmpte7i6ely_mondo_relaxed.owl AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|MPPH2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3 Orphanet:83473|UMLS:C4014738|OMIM:615937 owl:Class MONDO:0019375 biolink:NamedThing megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. tmpte7i6ely_mondo_relaxed.owl MPPH syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome OMIM:603387|OMIMPS:603387|OMIM:615937|SCTID:722036008|ICD10:Q04.8|OMIM:615938|Orphanet:83473|GARD:0010341 owl:Class MONDO:0001280 biolink:NamedThing choroiditis An inflammatory process that affects the choroid. tmpte7i6ely_mondo_relaxed.owl choroiditis|Choroiditides|posterior uveitis (disease)|posterior uveitis GARD:0006062|MESH:D002833|UMLS:C0008526|ICD10:H30.1|MedDRA:10036370|SCTID:16553002|ICD10:H30.2|DOID:11406|Orphanet:280892|ICD10:H30.8|ICD10:H30.9|HP:0012123|NCIT:C35111|UMLS:C0042167|ICD10:H30.0 owl:Class MONDO:0006918 biolink:NamedThing posterior uveitis Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. tmpte7i6ely_mondo_relaxed.owl inflammation of chorioretinal region|uveitis, posterior|chorioretinal region inflammation SCTID:46627006|MESH:D015866|DOID:12574|EFO:1001119|NCIT:C35111|UMLS:C0042167|GARD:0004457|SCTID:43363007|Orphanet:280892|MedDRA:10036370 Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD owl:Class CL:0001027 biolink:NamedThing CD7-negative lymphoid progenitor cell CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. tmpte7i6ely_mondo_relaxed.owl CD7-negative lymphoid precursor These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000039)(PMID:19243617). cell owl:Class CL:0000051 biolink:NamedThing common lymphoid progenitor A oligopotent progenitor cell committed to the lymphoid lineage. tmpte7i6ely_mondo_relaxed.owl CLP|early lymphocyte progenitor|common lymphocyte progenitor|committed lymphopoietic stem cell|common lymphoid precursor|lymphopoietic stem cell|lymphoid stem cell|common lymphocyte precursor|ELP CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. CL:0000044 cell owl:Class MONDO:0012160 biolink:NamedThing spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|spondylometaphyseal dysplasia-cone-rod dystrophy syndrome|SmD-CRD ICD10:Q77.8|UMLS:C1837073|GARD:0010647|Orphanet:85167|MESH:C563825|OMIM:608940 owl:Class MONDO:0016763 biolink:NamedThing spondylometaphyseal dysplasia Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. tmpte7i6ely_mondo_relaxed.owl spondylometaphyseal dysplasia OMIMPS:184255|ICD10:Q77.8|Orphanet:254 owl:Class UBERON:0004338 biolink:NamedThing proximal phalanx of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014501 biolink:NamedThing proximal phalanx of digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048523 biolink:NamedThing negative regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpte7i6ely_mondo_relaxed.owl down regulation of cellular process|negative regulation of cellular physiological process|downregulation of cellular process|down-regulation of cellular process|inhibition of cellular process owl:Class MONDO:0016644 biolink:NamedThing logopenic progressive aphasia Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. tmpte7i6ely_mondo_relaxed.owl Logopenic primary progressive aphasia|LPA|Logopenic variant PPA GARD:0010791|ICD10:G31.0|Orphanet:250831|SCTID:716380002|UMLS:C4049711 https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia owl:Class MONDO:0019806 biolink:NamedThing primary progressive aphasia Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). tmpte7i6ely_mondo_relaxed.owl Mesulam syndrome|primary progressive aphasia syndrome|PPA MESH:D018888|ICD10:G31.0|Orphanet:95432|GARD:0008541|NCIT:C85024|UMLS:C0282513|EFO:0009053 owl:Class GO:0045702 biolink:NamedThing positive regulation of spermatid nuclear differentiation Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation. tmpte7i6ely_mondo_relaxed.owl up-regulation of spermatid nuclear differentiation|stimulation of spermatid nuclear differentiation|activation of spermatid nuclear differentiation|up regulation of spermatid nuclear differentiation|upregulation of spermatid nuclear differentiation owl:Class UBERON:0003510 biolink:NamedThing eyelid blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033686 biolink:NamedThing positive regulation of luteinizing hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of luteinizing hormone. tmpte7i6ely_mondo_relaxed.owl upregulation of luteinizing hormone secretion|up-regulation of luteinizing hormone secretion|up regulation of luteinizing hormone secretion|stimulation of luteinizing hormone secretion|activation of luteinizing hormone secretion owl:Class GO:0033684 biolink:NamedThing regulation of luteinizing hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of luteinizing hormone. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000090 biolink:NamedThing Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. tmpte7i6ely_mondo_relaxed.owl juvenile nephronophthisis UMLS:C0687120|SNOMEDCT_US:204958008 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. HP:0004748 human_phenotype owl:Class HP:0100957 biolink:NamedThing Abnormal renal medulla morphology Any structural abnormality of the medulla of the kidney. tmpte7i6ely_mondo_relaxed.owl Abnormality of the renal medulla UMLS:C4021911 The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. doelkens 2011-12-12T10:02:15Z HP:0005582 human_phenotype owl:Class MONDO:0013422 biolink:NamedThing type I complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene. tmpte7i6ely_mondo_relaxed.owl C8 Alpha-gamma deficiency|C8D1|classic complement early component deficiency caused by mutation in C8A|C81 deficiency|complement component 8 deficiency, type 1|C8 deficiency type I|C8A classic complement early component deficiency|C8Ag deficiency|complement component 8 deficiency, type I|C8 deficiency, type 1|complement component 8 deficiency type 1|complement component 8 deficiency type I ICD10:D84.1|UMLS:C3151081|HGNC:1352|GARD:0010626|OMIM:613790|DOID:0060301|Orphanet:169150 https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1 owl:Class MONDO:0000015 biolink:NamedThing classic complement early component deficiency A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. tmpte7i6ely_mondo_relaxed.owl genetic deficiency of early component of the classical complement pathway ICD9:279.8|SCTID:363009005|GARD:0009526|UMLS:C1285186 https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency owl:Class GO:0002701 biolink:NamedThing negative regulation of production of molecular mediator of immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. tmpte7i6ely_mondo_relaxed.owl downregulation of production of molecular mediator of immune response|down-regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response owl:Class GO:0002700 biolink:NamedThing regulation of production of molecular mediator of immune response Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021578 biolink:NamedThing sternal neoplasm A benign or malignant neoplasm that affects the sternum. tmpte7i6ely_mondo_relaxed.owl neoplasm of sternum|sternum neoplasm (disease)|tumor of the sternum|neoplasm of the sternum|sternal neoplasm|neoplasm of sternum (disease)|sternal tumor|sternum tumor|sternum neoplasm|tumor of sternum|neoplasm of sternum (disorder) NCIT:C6730|ICD9:239.2|UMLS:C1290244|SCTID:126559003 owl:Class MONDO:0006406 biolink:NamedThing sarcomatoid carcinoma A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. tmpte7i6ely_mondo_relaxed.owl sarcomatoid carcinoma|carcinoma, spindle cell, malignant|pseudosarcomatous carcinoma|spindle cell carcinoma|spindle cell carcinoma (morphologic abnormality) UMLS:C0205697|DOID:4015|EFO:1000520|ICDO:8033/3|ICDO:8032/3|MESH:D002277|NCIT:C27004 owl:Class MONDO:0014817 biolink:NamedThing nephrotic syndrome, type 12 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. tmpte7i6ely_mondo_relaxed.owl NUP93 familial nephrotic syndrome|NPHS12|familial nephrotic syndrome caused by mutation in NUP93|nephrotic syndrome, type 12|nephrotic syndrome, type 12; NPHS12 UMLS:C4225166|OMIM:616892|DOID:0080387 owl:Class MONDO:0005377 biolink:NamedThing nephrotic syndrome A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. tmpte7i6ely_mondo_relaxed.owl nephrotic syndromes|syndromes, nephrotic|nephrotic syndrome|syndrome, nephrotic|nephrosis OMIM:615861|OMIM:614199|OMIM:615573|ICD10:N04|MESH:D009404|DOID:1184|UMLS:C0027726|ICD9:581.9|OMIM:615244|OMIM:600995|OMIM:256300|OMIM:256370|OMIM:615008|NCIT:C34845|ICD9:581|OMIM:610725|SCTID:52254009|OMIM:614196|EFO:0004255 owl:Class MONDO:0019928 biolink:NamedThing 48,XXXY syndrome The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. tmpte7i6ely_mondo_relaxed.owl 48, XXXY syndrome|XXXY syndrome ICD10:Q98.1|UMLS:C0265498|ICD9:758.81|GARD:0005676|Orphanet:96263|MedDRA:10048228|NCIT:C89799|SCTID:78317008 https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome owl:Class MONDO:0017975 biolink:NamedThing sex chromosome disorder of sex development Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. tmpte7i6ely_mondo_relaxed.owl Sex chromosome DSD Orphanet:325546|MESH:D058533 owl:Class MONDO:0002158 biolink:NamedThing fallopian tube cancer A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma. tmpte7i6ely_mondo_relaxed.owl malignant tumor of fallopian tubes|fallopian tube malignant tumor|malignant tumour of fallopian tube|tumor, fallopian tube, malignant|cancer of fallopian tube|fallopian tube cancer|malignant fallopian tube neoplasm|malignant neoplasm of the fallopian tube|tubal cancer|neoplasm, fallopian tube, malignant|malignant neoplasm of uterine tube|cancer of fallopian tubes|malignant neoplasm of fallopian tube|malignant tumor of fallopian tube|malignant tumor of the fallopian tube|malignant tubal tumor|malignant fallopian tube tumor|tumor of the fallopian tube|fallopian tube malignant neoplasm Orphanet:180242|MedDRA:10025915|UMLS:C0238122|ICD10:C57.0|DOID:1964|UMLS:C0153579|UMLS:CN200469|NCIT:C3032|SCTID:126916003|UMLS:C0015558|GARD:0009162|ICD9:183.2|SCTID:363444001|NCIT:C7480 owl:Class MONDO:0001416 biolink:NamedThing female reproductive organ cancer A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. tmpte7i6ely_mondo_relaxed.owl malignant tumor of female reproductive system|malignant gynecologic tumor|malignant neoplasm of female reproductive organ|malignant neoplasm of female reproductive system|malignant neoplasm of female genital organ|female reproductive organ cancer|cancer of female reproductive organ|malignant neoplasm of the female reproductive system|female reproductive cancer|malignant female reproductive organ neoplasm|malignant female reproductive system tumor|malignant tumor of the female reproductive system|gynecologic cancer|malignant gynecologic neoplasm|malignant female reproductive system neoplasm ICD9:184|SCTID:126907002|NCIT:C4913|DOID:120|ICD10:C57|ICD10:C51.C58|NCIT:C3053 owl:Class MONDO:0007693 biolink:NamedThing hypertrichosis cubiti-short stature syndrome Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. tmpte7i6ely_mondo_relaxed.owl hairy elbows syndrome|hairy elbows|hypertrichosis cubiti|MacDermot-Patton-Williams syndrome UMLS:C1841696|GARD:0000143|ICD10:Q84.2|OMIM:139600|MedDRA:10068636|Orphanet:2220|MESH:C535618 owl:Class MONDO:0019280 biolink:NamedThing hypertrichosis Excessive hair growth anywhere on the body. tmpte7i6ely_mondo_relaxed.owl hypertrichosis (disease)|hypertrichosis hypertrichosis (disease) MESH:D006983|HP:0000998|ICD10:L68|Orphanet:79365|DOID:420|SCTID:29966009|ICD10:L68.9|UMLS:C0020555|MedDRA:10020864|ICD10:L68.3|NCIT:C79597 owl:Class MONDO:0013851 biolink:NamedThing autosomal dominant aplasia and myelodysplasia tmpte7i6ely_mondo_relaxed.owl BMFS1|autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome 1|bone marrow failure syndrome type 1 OMIM:614675|ICD10:D61.0|UMLS:CN203751|UMLS:C3808553|Orphanet:314399 owl:Class MONDO:0001713 biolink:NamedThing inherited aplastic anemia An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. tmpte7i6ely_mondo_relaxed.owl constitutional aplastic anemia|hereditary aplastic anemia|rare constitutional aplastic anemia|congenital aplastic anemia|congenital hypoplastic anemia|constitutional aplastic anaemia|hypoplastic anemia - familial UMLS:C0949116|ICD10:D61.0|SCTID:28975000|DOID:1342|ICD9:284.0|ICD9:284.09|ICD10:D61.01|GARD:0006149|Orphanet:68383|UMLS:C0702159|MESH:D029502 In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency owl:Class UBERON:0015081 biolink:NamedThing proximal tarsal endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0017750 biolink:NamedThing proximal mesopodial endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036422 biolink:NamedThing wall of pulmonary artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000415 biolink:NamedThing artery wall tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016991 biolink:NamedThing acute necrotizing encephalopathy of childhood Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. tmpte7i6ely_mondo_relaxed.owl isolated ANE|ANEC|isolated acute necrotizing encephalopathy Orphanet:263524|SCTID:763310000|ICD10:G31.8|OMIM:614212 owl:Class MONDO:0020067 biolink:NamedThing infectious encephalitis An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. tmpte7i6ely_mondo_relaxed.owl encephalitis infection MESH:D000069544|NCIT:C79550|ICD9:323.4|SCTID:312215006|ICD9:049.8 owl:Class MONDO:0004605 biolink:NamedThing chronic ulcer of skin tmpte7i6ely_mondo_relaxed.owl indolent ulcer|callous ulcer|indolent ulcer (morphologic abnormality)|callous ulcer (morphologic abnormality) ICD9:707.8|EFO:0007066|DOID:8549|ICD10:L98.4|ICD9:707.9|UMLS:C0157738|ICD9:707|SCTID:19429009 owl:Class MONDO:0015015 biolink:NamedThing congenital bile acid synthesis defect 6 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. tmpte7i6ely_mondo_relaxed.owl CBAS6|bile acid synthesis defect, congenital, 6|ACOX2 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, type 6|congenital bile acid synthesis defect caused by mutation in ACOX2|congenital bile acid synthesis defect type 6 UMLS:C4310624|OMIM:617308|DOID:0111067 owl:Class MONDO:0018841 biolink:NamedThing congenital bile acid synthesis defect tmpte7i6ely_mondo_relaxed.owl cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|CBA|BASD|bile acid synthesis defect, congenital UMLS:CN239183|EFO:0009039|ICD10:K76.8|Orphanet:485631|DOID:0050674|OMIMPS:607765 owl:Class GO:0048819 biolink:NamedThing regulation of hair follicle maturation Any process that modulates the frequency, rate or extent of hair follicle maturation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018795 biolink:NamedThing syndromic constitutional thrombocytopenia tmpte7i6ely_mondo_relaxed.owl Orphanet:477794|UMLS:CN776900 owl:Class HGNC:15864 biolink:NamedThing RBCK1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17996 biolink:NamedThing chloride A halide anion formed when chlorine picks up an electron to form an an anion. tmpte7i6ely_mondo_relaxed.owl Chlorine anion|Cl(-)|Chloride|chloride(1-)|Cl-|Chloride(1-)|CHLORIDE ION|chloride|Chloride ion owl:Class CHEBI:16042 biolink:NamedThing halide anion A monoatomic monoanion resulting from the addition of an electron to any halogen atom. tmpte7i6ely_mondo_relaxed.owl halide anions|halide ions|Halide|halide(1-)|HX|halides|a halide anion|halogen anion owl:Class MONDO:0044742 biolink:NamedThing autosomal recessive epidermolytic ichthyosis tmpte7i6ely_mondo_relaxed.owl AREI Orphanet:512103 owl:Class MONDO:0017265 biolink:NamedThing autosomal recessive congenital ichthyosis Autosomal recessive form of inherited ichthyosis. tmpte7i6ely_mondo_relaxed.owl ARCI|autosomal recessive inherited ichthyosis|inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive OMIMPS:242300|Orphanet:281097|DOID:0060655|OMIM:617320 Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV). owl:Class GO:0002894 biolink:NamedThing positive regulation of type II hypersensitivity Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity. tmpte7i6ely_mondo_relaxed.owl up regulation of type II hypersensitivity|stimulation of type II hypersensitivity|up-regulation of type II hypersensitivity|activation of type II hypersensitivity|upregulation of type II hypersensitivity owl:Class MONDO:0013514 biolink:NamedThing hypotrichosis 3 Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene. tmpte7i6ely_mondo_relaxed.owl Htss2|hypotrichosis type 3|HYPT3|hypotrichosis caused by mutation in KRT74|hypt3|hypotrichosis simplex of the scalp 2|hypotrichosis 3|KRT74 hypotrichosis Orphanet:90368|DOID:0110700|UMLS:C3151432|OMIM:613981 owl:Class MONDO:0019575 biolink:NamedThing hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. tmpte7i6ely_mondo_relaxed.owl hereditary hypotrichosis simplex of the scalp Orphanet:90368|OMIM:146520|SCTID:717256009|OMIM:613981|ICD10:L65.8 owl:Class MONDO:0005149 biolink:NamedThing pulmonary hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. tmpte7i6ely_mondo_relaxed.owl NCIT:C3120|SCTID:70995007|OMIM:615371|DOID:6432|ICD10:I27.2|EFO:0001361|MESH:D006976 owl:Class MONDO:0005044 biolink:NamedThing hypertensive disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. tmpte7i6ely_mondo_relaxed.owl vascular hypertensive disorder|high blood pressure|hyperpiesia|hypertension|increased blood pressure|blood pressure, high|HTN|hypertensive disease|pressure, high blood|blood pressure, increased UMLS:C0020538|ICD9:997.91|ICD10:I10|EFO:0000537|NCIT:C3117|HP:0000822|ICD10:I15|OMIM:145500|ICD10:I10-I15|ICD9:401-405.99|DOID:10763|SCTID:38341003|MESH:D006973 owl:Class GO:0090174 biolink:NamedThing organelle membrane fusion The joining of two lipid bilayers to form a single organelle membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048284 biolink:NamedThing organelle fusion The creation of a single organelle from two or more organelles. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045828 biolink:NamedThing positive regulation of isoprenoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpte7i6ely_mondo_relaxed.owl up regulation of isoprenoid metabolic process|upregulation of isoprenoid metabolic process|activation of isoprenoid metabolic process|stimulation of isoprenoid metabolic process|up-regulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism owl:Class GO:0019747 biolink:NamedThing regulation of isoprenoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. tmpte7i6ely_mondo_relaxed.owl regulation of isoprenoid metabolism owl:Class MONDO:0012803 biolink:NamedThing diarrhea-vomiting due to trehalase deficiency This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. tmpte7i6ely_mondo_relaxed.owl trehalose intolerance|trehalase deficiency|isolated trehalose intolerance ICD9:271.8|ICD10:E74.3|GARD:0010372|OMIM:612119|MESH:C562603|SCTID:84193000|Orphanet:103909|UMLS:C0268187 owl:Class HGNC:17116 biolink:NamedThing CATSPER1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006668 biolink:NamedThing bacterial conjunctivitis Inflammation of the conjunctiva caused by a variety of bacterial agents. tmpte7i6ely_mondo_relaxed.owl Bacteria conjunctival disease|Bacteria caused conjunctival disease|purulent conjunctivitis SCTID:243321006|ICD9:372.03|EFO:1000829|UMLS:C0009768|MESH:D003234|MedDRA:10061784|NCIT:C53656|DOID:9700|ICD10:H10.0 owl:Class GO:0032984 biolink:NamedThing protein-containing complex disassembly The disaggregation of a protein-containing macromolecular complex into its constituent components. tmpte7i6ely_mondo_relaxed.owl cellular macromolecule complex disassembly|protein complex disassembly|macromolecule complex disassembly owl:Class UBERON:0004520 biolink:NamedThing striated muscle tissue of prostate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001134 biolink:NamedThing skeletal muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014889 biolink:NamedThing striatonigral degeneration, childhood-onset tmpte7i6ely_mondo_relaxed.owl striatonigral Degeneration, childhood-onset|Lenk-Ploski syndrome|striatonigral degeneration, childhood-onset; SNDC|childhood-onset basal ganglia degeneration syndrome|SNDC UMLS:C4310743|OMIM:617054|Orphanet:497906 owl:Class MONDO:0000453 biolink:NamedThing short QT syndrome A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified tmpte7i6ely_mondo_relaxed.owl short QT syndrome|ventricular arrhythmia associated with short QT syndrome|familial short QT syndrome NCIT:C71060|DOID:0050793|MESH:C580439|OMIMPS:609620|SCTID:698272007|ICD10:I49.8|OMIM:609622|ICD9:426.89|UMLS:C2348199|Orphanet:51083|OMIM:609621|OMIM:609620 owl:Class GO:0002683 biolink:NamedThing negative regulation of immune system process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. tmpte7i6ely_mondo_relaxed.owl down-regulation of immune system process|down regulation of immune system process|downregulation of immune system process|inhibition of immune system process owl:Class GO:0002682 biolink:NamedThing regulation of immune system process Any process that modulates the frequency, rate, or extent of an immune system process. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:48378 biolink:NamedThing carboximidic acid tmpte7i6ely_mondo_relaxed.owl carboximidic acid|carboximidic acids owl:Class CHEBI:48377 biolink:NamedThing imidic acid Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH). tmpte7i6ely_mondo_relaxed.owl imino acids|imidic acids|imidic acid owl:Class UBERON:0007826 biolink:NamedThing peritoneal mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002358 biolink:NamedThing peritoneum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012850 biolink:NamedThing hypophosphatemic nephrolithiasis/osteoporosis 1 tmpte7i6ely_mondo_relaxed.owl hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1|nephrolithiasis/osteoporosis, hypophosphatemic, type 1|NPHLOP1 DOID:0080077|UMLS:C2676786|MESH:C567363|OMIM:612286|Orphanet:244305 owl:Class MONDO:0000079 biolink:NamedThing nephrolithiasis/osteoporosis, hypophosphatemic tmpte7i6ely_mondo_relaxed.owl DOID:0080655|OMIMPS:612286 owl:Class MONDO:0002585 biolink:NamedThing breast fibrocystic change, proliferative type Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent. tmpte7i6ely_mondo_relaxed.owl fibrocystic disease, proliferative type with atypia|proliferative type fibrocystic change of the breast|fibrocystic change, proliferative type with atypia|proliferative type fibrocystic change of breast|breast fibrocystic change, proliferative type|proliferative fibrocystic change|benign proliferative breast disease|proliferative breast disease|proliferating lesion of breast without atypia|proliferative breast lesion|proliferating lesion of the breast without atypia NCIT:C6940|DOID:3274|UMLS:C0334056 owl:Class MONDO:0005219 biolink:NamedThing breast fibrocystic disease Fibrosis associated with cyst formation in the breast parenchyma. tmpte7i6ely_mondo_relaxed.owl fibrocystic breast disease|cystic disease of breast|fibrocystic change of breast|fibrocystic breast changes|fibrocystic mastopathy|fibrocystic change of the breast|fibrocystic disease|fibrocystic disease of breast|fibrocystic disease of the breast|cystic disease of the breast|benign breast disease|diffuse cystic mastopathy|fibrocystic breast|mammary dysplasia|breast fibrocystic change NCIT:C3039|EFO:0003014|DOID:10354|ICD9:610.1|MESH:D005348|ICD10:N60|ICD10:N60.1|UMLS:C0016034 Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic owl:Class GO:0008645 biolink:NamedThing hexose transmembrane transport The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule. tmpte7i6ely_mondo_relaxed.owl hexose membrane transport|hexose transport|high-affinity hexose transport|low-affinity hexose transport owl:Class GO:0015749 biolink:NamedThing monosaccharide transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpte7i6ely_mondo_relaxed.owl monosaccharide transport owl:Class MONDO:0006274 biolink:NamedThing low grade vulvar intraepithelial neoplasia An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014) tmpte7i6ely_mondo_relaxed.owl intraepithelial neoplasia of the vulva grade 1|vulvar intraepithelial neoplasia grade 1|grade I vulvar intraepithelial neoplasia|VIN 1 of usual type|grade 1 vulvar intraepithelial neoplasia|low grade VIN|vulvar intraepithelial neoplasia 1 of usual type|VIN grade 1|vulvar Low grade squamous intraepithelial lesion|vulva intraepithelial neoplasia grade 1|vulvar flat condyloma|VIN 1|vulvar mild squamous dysplasia|vulvar Low-grade squamous intraepithelial lesion|grade 1 VIN|grade I VIN|intraepithelial neoplasia of vulva grade 1 EFO:1000330|NCIT:C4760|UMLS:C0495106 owl:Class MONDO:0005198 biolink:NamedThing vulvar intraepithelial neoplasia Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type. tmpte7i6ely_mondo_relaxed.owl intraepithelial neoplasia of vulva|VIN|vulvar intraepithelial tumor|intraepithelial neoplasia of the vulva|vulva intraepithelial neoplasia|vulval intraepithelial neoplasia|squamous vulvar intraepithelial neoplasia NCIT:C4756|EFO:0002627|Orphanet:137583|ICD10:D07.1|UMLS:C0346210 owl:Class GO:0034763 biolink:NamedThing negative regulation of transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl negative regulation of membrane transport|down regulation of transmembrane transport|inhibition of transmembrane transport|down-regulation of transmembrane transport|downregulation of transmembrane transport owl:Class MONDO:0003185 biolink:NamedThing adenoid cystic breast carcinoma An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. tmpte7i6ely_mondo_relaxed.owl adenocystic breast carcinoma|adenocystic carcinoma of breast|adenocystic carcinoma of the breast|adenoid cystic carcinoma of the breast|adenoid cystic breast cancer|breast adenoid cystic carcinoma|adenoid cystic carcinoma of breast|mammary adenoid cystic carcinoma|adenoid cystic breast carcinoma|mammary adenocystic carcinoma NCIT:C5130|UMLS:C1332167|ONCOTREE:ACBC|DOID:4877|EFO:1000071 owl:Class MONDO:0004071 biolink:NamedThing childhood cerebral astrocytoma An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. tmpte7i6ely_mondo_relaxed.owl pediatric astrocytoma of the cerebrum|childhood astrocytic tumor of telencephalon|telencephalon childhood astrocytic tumor|pediatric astrocytoma of cerebrum|telencephalon juvenile astrocytoma|cerebral astrocytoma|pediatric cerebral astrocytoma|childhood astrocytoma of cerebrum|childhood astrocytoma of the cerebrum|cerebral astrocytoma, childhood GARD:0009302|DOID:7007|MESH:D001254|UMLS:C0338070|NCIT:C4347 https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood owl:Class MONDO:0021633 biolink:NamedThing cerebral astrocytoma An astrocytoma that arises from the cerebral hemispheres. tmpte7i6ely_mondo_relaxed.owl cerebral astrocytoma|cerebral hemispheric astrocytoma|astrocytoma (excluding glioblastoma) of cerebral hemisphere|cerebral hemisphere astrocytoma (excluding glioblastoma)|astrocytoma of the cerebral hemispheres|astrocytoma of cerebral hemispheres|astrocytoma of the cerebrum|astrocytoma of cerebrum SCTID:99131000119108|NCIT:C4951 owl:Class MONDO:0009080 biolink:NamedThing split hand-foot malformation 1 with sensorineural hearing loss Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl split hand-foot malformation 1 with sensorineural hearing loss|SHFM1D|split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|congenital deafness with split hands and feet|split hand-split foot-deafness syndrome|deafness, congenital, with split hands and feet OMIM:220600|ICD10:Q87.2|MESH:C565647|UMLS:C1857344|SCTID:723611008|Orphanet:71271|DOID:0090024 DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features owl:Class CL:1000314 biolink:NamedThing gastric cardiac gland goblet cell A goblet cell that is part of the epithelium of gastric cardiac gland. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of gastric cardiac gland FMA:263038 cell owl:Class CL:0000160 biolink:NamedThing goblet cell A cell of the epithelial lining that produce and secrete mucins. tmpte7i6ely_mondo_relaxed.owl chalice cell BTO:0001540|http://en.wikipedia.org/wiki/Goblet_cell|FMA:13148 cell owl:Class MONDO:0002327 biolink:NamedThing intracranial cavernous angioma A cavernous hemangioma arising from the brain and meninges. tmpte7i6ely_mondo_relaxed.owl intracranial cavernoma|intracranial cavernous angioma|intracranial cavernous hemangioma UMLS:C1334237|DOID:2516|SCTID:445513004|NCIT:C5432 owl:Class MONDO:0003155 biolink:NamedThing cavernous hemangioma A hemangioma characterized by the presence of cavernous vascular spaces. tmpte7i6ely_mondo_relaxed.owl cavernous hemangioma (morphologic abnormality)|cavernous hemangioma|cavernoma|cavernous haemangioma|cavernous angioma NCIT:C3086|ICDO:9121/0|DOID:483|HP:0001048|SCTID:56975005|SCTID:416824008|ICD10:D18.0|UMLS:C0018920|EFO:1000151|MESH:D006392 MONDO:0006124 owl:Class MONDO:0018997 biolink:NamedThing Noonan syndrome Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. tmpte7i6ely_mondo_relaxed.owl Turner's phenotype, karyotype normal|Ullrich-Noonan syndrome|Noonan-Ehmke syndrome|pseudo-Ullrich-Turner syndrome|Noonan's syndrome|Noonan syndrome SCTID:205824006|OMIM:610733|OMIM:613224|OMIM:609942|OMIM:616559|DOID:3490|NCIT:C34854|MESH:D009634|UMLS:C0028326|OMIM:605275|NCIT:C75459|OMIM:616564|OMIM:611553|OMIM:613706|ICD10:Q87.1|Orphanet:648|OMIM:163950|GARD:0010955|MedDRA:10029748|OMIMPS:163950|ICD9:759.89|OMIM:615355 owl:Class HP:0100763 biolink:NamedThing Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. tmpte7i6ely_mondo_relaxed.owl Lymphatic disease SNOMEDCT_US:111590001|SNOMEDCT_US:3305006|UMLS:C0024228|SNOMEDCT_US:234087005|UMLS:C4021976|SNOMEDCT_US:362971004|MSH:D008206 doelkens 2011-06-07T10:40:36Z HP:0003012 human_phenotype owl:Class HP:0002597 biolink:NamedThing Abnormality of the vasculature An abnormality of the vasculature. tmpte7i6ely_mondo_relaxed.owl Vascular abnormalities|Abnormality of blood vessels|Abnormality of the vasculature UMLS:C0241657 human_phenotype owl:Class MONDO:0024664 biolink:NamedThing hypertension, pregnancy-induced A hypertensive disorder that develops during pregnancy. tmpte7i6ely_mondo_relaxed.owl pregnancy transient hypertension|hypertension, gestational|hypertension, pregnancy induced|gestational hypertension|hypertension complicating pregnancy|pregnancy induced hypertension|pregnancy-induced hypertension|induced Hypertensions, pregnancy|hypertension induced by pregnancy|hypertension associated disorders of pregnancy|transient hypertension, pregnancy|hypertension, pregnancy transient|induced hypertension, pregnancy|hypertension-associated pregnancy disorder|hypertensions, pregnancy induced SCTID:48194001|NCIT:C9243|MESH:D046110 MONDO:0024581 owl:Class MONDO:0024575 biolink:NamedThing pregnancy disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. tmpte7i6ely_mondo_relaxed.owl disorder of pregnancy|Complications, pregnancy|pregnancy disorder|disorder of pregnancy, childbirth, or puerperium|complication of pregnancy or childbirth|complication, pregnancy|pregnancy disease|pregnancy complication SCTID:173300003|MESH:D011248|NCIT:C35169 owl:Class UBERON:0003086 biolink:NamedThing caudal artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020699 biolink:NamedThing biotin metabolic disease A deficiency in biotin through either inherited or acquired causes. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056803 biolink:NamedThing sulfur metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of sulfur metabolism|disorder of sulfur metabolic process|disorder of sulphur metabolism|disorder of sulfur compound metabolic process|sulfur compound metabolic process disease UMLS:C1263724|SCTID:123809005 owl:Class UBERON:0036376 biolink:NamedThing wall of left ureter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009916 biolink:NamedThing wall of ureter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900076 biolink:NamedThing regulation of cellular response to insulin stimulus Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015998 biolink:NamedThing isolated ectopia lentis Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. tmpte7i6ely_mondo_relaxed.owl IEL|familial ectopia lentis|isolated lens position anomaly|nonsyndromic lens position anomaly|ectopia lentis syndrome|congenital ectopic lens GARD:0012251|MedDRA:10014145|OMIM:225200|Orphanet:1885|SCTID:74969002|DOID:0111148|MESH:C536184|NCIT:C34566|ICD10:Q12.1|OMIM:225100|OMIM:129600|PMID:20141359 https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis owl:Class MONDO:0020236 biolink:NamedThing lens position anomaly Partial or complete displacement of the crystalline lens from its normal position in the eye. tmpte7i6ely_mondo_relaxed.owl ectopia lentis HP:0001083|Orphanet:98653|ICD10:Q12.1|NCIT:C125484 Editor note: consider obsoleting as is a phenotypic feature owl:Class MONDO:0015071 biolink:NamedThing middle ear neuroendocrine tumor A neuroendocrine neoplasm that involves the middle ear. tmpte7i6ely_mondo_relaxed.owl middle ear neuroendocrine tumor|middle ear neuroendocrine tumor, well differentiated, low or intermediate grade|middle ear neuroendocrine neoplasm|neuroendocrine neoplasm of middle ear|neuroendocrine tumor of middle ear|middle ear NET UMLS:C4305468|SCTID:717918002|Orphanet:100084|UMLS:CN197364 owl:Class MONDO:0021366 biolink:NamedThing neoplasm of middle ear A neoplasm (disease) that involves the middle ear. tmpte7i6ely_mondo_relaxed.owl middle ear neoplasm (disease)|middle Ear neoplasm|tumor of middle ear|neoplasm of the middle Ear|tumor of the middle Ear|tumor of middle Ear|middle ear tumor|neoplasm of middle ear|middle Ear tumor|middle ear neoplasm ICD9:239.89|NCIT:C4412|SCTID:127006003 owl:Class MONDO:0016748 biolink:NamedThing hemangioblastoma Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. tmpte7i6ely_mondo_relaxed.owl capillary hemangioblastoma|hemangioblastoma|angioblastoma|HMBL Orphanet:252054|ONCOTREE:HMBL|ICD10:D33.4|GARD:0008232|UMLS:C0206734|ICDO:9161/1|MESH:D018325|ICD10:D33.7|DOID:5241|MedDRA:10018813|NCIT:C3801 owl:Class MONDO:0016925 biolink:NamedThing partial trisomy/tetrasomy of chromosome 5 tmpte7i6ely_mondo_relaxed.owl partial duplication/triplication of chromosome 5|partial trisomy/tetrasomy of chromosome type 5 Orphanet:262211 owl:Class MONDO:0700012 biolink:NamedThing chromosome 5 disorder Chromosomal disorder in which chromosome 5 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0025369 biolink:NamedThing Nairobi sheep disease An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis. tmpte7i6ely_mondo_relaxed.owl disease, Nairobi sheep|sheep disease, Nairobi UMLS:C0027345|MESH:D009265|SCTID:24069003 owl:Class MONDO:0024985 biolink:NamedThing sheep disease Diseases of domestic and mountain sheep of the genus Ovis. tmpte7i6ely_mondo_relaxed.owl sheep disease|disease, Ovine|Ovine diseases|disease, sheep|diseases, sheep|Ovine disease|diseases, Ovine MESH:D012757|UMLS:C0036946 owl:Class UBERON:0015813 biolink:NamedThing middle ear epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019085 biolink:NamedThing vernal keratoconjunctivitis Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition. tmpte7i6ely_mondo_relaxed.owl Spring catarrh|VKC UMLS:C0022577|SCTID:317349009|ICD10:H16.2|GARD:0007854|Orphanet:70476 https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis owl:Class MONDO:0015236 biolink:NamedThing aortic arch defects Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. tmpte7i6ely_mondo_relaxed.owl Orphanet:1132|ICD10:Q25.4|GARD:0000741 https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect owl:Class MONDO:0020292 biolink:NamedThing congenital anomaly of the great arteries tmpte7i6ely_mondo_relaxed.owl congenital aorta, aortic arch or pulmonary arteries anomaly Orphanet:98724|MedDRA:10061080 owl:Class MONDO:0012334 biolink:NamedThing hereditary spastic paraplegia 29 Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia type 29|spastic paraplegia 29, autosomal dominant|autosomal dominant spastic paraplegia type 29|autosomal dominant spastic paraplegia 29|SPG29|spastic paraplegia 29 ICD10:G11.4|Orphanet:101009|UMLS:C1857855|SCTID:733029008|DOID:0110780|GARD:0009729|MESH:C536863|OMIM:609727 owl:Class HGNC:19125 biolink:NamedThing FGD4 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0033836 biolink:NamedThing Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. tmpte7i6ely_mondo_relaxed.owl Abnormal kidney arterial blood vessel morphology 2021-05-16 17:29:18+00:00 peter human_phenotype owl:Class HP:0033835 biolink:NamedThing Abnormal renal vascular morphology Anomalous structure of a blood vessel in the kidney. tmpte7i6ely_mondo_relaxed.owl 2021-05-16 17:27:46+00:00 peter human_phenotype owl:Class MONDO:0009716 biolink:NamedThing Richieri Costa-da Silva syndrome tmpte7i6ely_mondo_relaxed.owl myotonia with skeletal abnormalities and mental retardation|myotonia with skeletal abnormalities and intellectual disability|myotonia-intellectual disability-skeletal anomalies syndrome|Richieri Costa Da Silva syndrome MESH:C535675|Orphanet:3101|UMLS:C2930978|GARD:0004709|ICD10:Q87.8|OMIM:255710 https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome owl:Class MONDO:0012110 biolink:NamedThing growth delay due to insulin-like growth factor type 1 deficiency Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl IGF-1 deficiency|insulin-like growth factor I deficiency|insulin-like growth Factor 1 deficiency|growth retardation with sensorineural deafness and mental retardation|primary insulin-like growth factor deficiency|IGF1 deficiency|growth retardation with sensorineural deafness and intellectual disability|growth delay-deafness- intellectual disability syndrome MESH:C563867|Orphanet:73272|UMLS:C1837475|ICD10:E34.3|SCTID:724385009|UMLS:C4518327|OMIM:608747|GARD:0010627 owl:Class MONDO:0018056 biolink:NamedThing bullous lichen planus Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions. tmpte7i6ely_mondo_relaxed.owl MedDRA:10056960|UMLS:C0023648|NCIT:C34778|Orphanet:33408|ICD10:L43.1|SCTID:6111009 owl:Class GO:0031943 biolink:NamedThing regulation of glucocorticoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpte7i6ely_mondo_relaxed.owl regulation of glucocorticoid metabolism owl:Class GO:0031323 biolink:NamedThing regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpte7i6ely_mondo_relaxed.owl regulation of cellular metabolism owl:Class UBERON:0004765 biolink:NamedThing skeletal element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005040 biolink:NamedThing mucosa of terminal bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005039 biolink:NamedThing mucosa of bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005015 biolink:NamedThing diabetes mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus (disease)|diabetes mellitus|DM|diabetes diabetes mellitus (disease) OMIM:612227|ICD10:E11|MESH:D003920|ICD10:E08-E13|ICD9:250|EFO:0000400|NCIT:C2985|DOID:9351|UMLS:C0011847|HP:0000819|UMLS:C0011849|ICD10:E10.E14|SCTID:73211009 owl:Class MONDO:0002251 biolink:NamedThing hepatitis An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. tmpte7i6ely_mondo_relaxed.owl chronic persistent hepatitis|liver inflammation|acute and subacute liver necrosis|Hepatitides|acute/subac. necrosis of liver|inflammation of liver|Hepatitis|animal hepatitis|chronic hepatitis|hepatitis|acute hepatitis ICD9:570|ICD10:K73.9|NCIT:C3095|ICD9:571.41|SCTID:197268000|MESH:D006505|ICD9:571.40|ICD9:571.4|DOID:2237|EFO:0008496 owl:Class MONDO:0033667 biolink:NamedThing Delpire-McNeill syndrome tmpte7i6ely_mondo_relaxed.owl DELMNES OMIM:619083 owl:Class MONDO:0004608 biolink:NamedThing oropharynx cancer A primary or metastatic malignant neoplasm that affects the oropharynx. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the oropharynx|malignant tumor of oropharynx|oropharynx cancer|malignant neoplasm of posterior wall of oropharynx|cancer of oropharynx|malignant oropharynx neoplasm|malignant tumour of mesopharynx|malignant oropharyngeal neoplasm|malignant neoplasm of junctional region of oropharynx|malignant oropharyngeal tumor|malignant neoplasm of lateral wall of oropharynx|oropharyngeal carcinoma|primary malignant neoplasm of lateral wall of oropharynx|malignant neoplasm of the oropharynx|malignant neoplasm of oropharynx|oropharyngeal cancer|malignant tumor of posterior wall of oropharynx ICD10:C10.3|EFO:1001931|ICD9:146.9|ICD10:C10.9|ICD10:C10.8|DOID:8557|GARD:0009358|UMLS:C2349952|ICD9:146.7|ICD9:146.5|UMLS:C0153382|ICD10:C10|NCIT:C7398|ICD10:C10.2|UMLS:C3165521|ICD9:146|MESH:D009959|ICD9:146.6|UMLS:C0153390|UMLS:C0153389 owl:Class MONDO:0018175 biolink:NamedThing combined deficiency of factor V and factor VIII Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. tmpte7i6ely_mondo_relaxed.owl combined deficiency of factor V and factor type VIII|familial multiple coagulation factor deficiency|FV and FVIII combined deficiency|F5F8D UMLS:C1856883|OMIM:227300|ICD10:D68.8|Orphanet:35909|OMIM:227310|OMIM:613625|SCTID:715559004 owl:Class UBERON:0004926 biolink:NamedThing submucosa of cystic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008501 biolink:NamedThing Sturge-Weber syndrome Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. tmpte7i6ely_mondo_relaxed.owl Sturge-Weber-Krabbe angiomatosis|STURGE-WEBER syndrome|Encephalofacial angiomatosis|Sturge-Weber-Dimitri syndrome|Sturge-Weber disease|Sturge-Weber-Krabbe syndrome|meningeal capillary angiomatosis|fourth phacomatosis|Encephalotrigeminal syndrome|SWS type III - isolated leptomeningeal angiomas|SWS type I - Facial and leptomeningeal angiomas|leptomeningeal angiomatosis|SWS type II - Facial angioma alone, no CNS involvement|Sturge Weber syndrome|SWS|Sturge-Weber syndrome|Encephalotrigeminal angiomatosis NCIT:C3391|GARD:0007706|ICD10:Q85.8|UMLS:CN204001|UMLS:C0038505|ICD9:759.6|MedDRA:10042265|MedDRA:10057653|SCTID:19886006|OMIM:185300|MESH:D013341|DOID:0111563|Orphanet:3205 https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome owl:Class MONDO:0013207 biolink:NamedThing corneal dystrophy, fuchs endothelial, 7 tmpte7i6ely_mondo_relaxed.owl FECD7|Fcd4 locus|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 7 UMLS:C2750447|Orphanet:98974|OMIM:613271 owl:Class MONDO:0005321 biolink:NamedThing Fuchs' endothelial dystrophy Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. tmpte7i6ely_mondo_relaxed.owl Endoepithelial corneal dystrophy|Fuchs' endothelial corneal dystrophy|FCED|corneal dystrophy, Fuchs endothelial|FECD|Fuchs endothelial dystrophy|Fuchs endothelial corneal dystrophy|late hereditary endothelial dystrophy|Fuchs' corneal dystrophy UMLS:CN207231|OMIM:613268|ICD10:H18.51|OMIM:613270|OMIMPS:136800|ICD10:H18.5|NCIT:C84721|MESH:D005642|DOID:11555|OMIM:610158|OMIM:615523|OMIM:136800|OMIM:613269|OMIM:613267|EFO:0003946|Orphanet:98974|OMIM:613271|SCTID:193839007|UMLS:C0016781 owl:Class MONDO:0015385 biolink:NamedThing external auditory canal aplasia/hypoplasia tmpte7i6ely_mondo_relaxed.owl external auditory canal stenosis/atresia ICD10:Q16.1|OMIM:108760|OMIM:607842|Orphanet:141074 owl:Class GO:0040019 biolink:NamedThing positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development. tmpte7i6ely_mondo_relaxed.owl up-regulation of embryonic development|up regulation of embryonic development|stimulation of embryonic development|activation of embryonic development|upregulation of embryonic development owl:Class MONDO:0009852 biolink:NamedThing hereditary intrinsic factor deficiency Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. tmpte7i6ely_mondo_relaxed.owl hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|congenital pernicious anemia due to defect of intrinsic factor|intrinsic factor deficiency|pernicious Anemia, congenital, due to defect of intrinsic Factor|IFD|intrinsic factor, congenital deficiency of MedDRA:10070440|Orphanet:332|MESH:C563242|ICD9:281.3|OMIM:243320|GARD:0003024|SCTID:60504009|ICD10:D51.0|DOID:0050734|UMLS:C1394891|OMIM:261000 owl:Class MONDO:0016624 biolink:NamedThing inherited deficiency anemia tmpte7i6ely_mondo_relaxed.owl constitutional rare deficiency anemia Orphanet:248296 owl:Class UBERON:0003841 biolink:NamedThing autopod joint tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10969 biolink:NamedThing SLC22A5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002722 biolink:NamedThing olfactory nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell. tmpte7i6ely_mondo_relaxed.owl olfactory neural neoplasm|olfactory nerve tumor|tumor of the first cranial nerve|neoplasms, olfactory nerve|first cranial nerve neoplasms|olfactory nerve neoplasm|olfactory neural tumor|neoplasm of olfactory nerve|neoplasm of the olfactory nerve|tumor of first cranial nerve|neoplasms, cranial nerve I|neoplasm of first cranial nerve|cranial nerve I neoplasms|first cranial nerve neoplasm|olfactory nerve neoplasm (disease)|olfactory nerve neoplasms|neoplasm of the first cranial nerve|tumor of olfactory nerve|tumor of the olfactory nerve|first cranial nerve tumor DOID:366|SCTID:126967000|UMLS:C0346319|DOID:8256|NCIT:C5121|ICD9:239.7 owl:Class GO:0014055 biolink:NamedThing acetylcholine secretion, neurotransmission The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007269 biolink:NamedThing neurotransmitter secretion The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission. tmpte7i6ely_mondo_relaxed.owl neurotransmitter release|neurotransmitter secretory pathway owl:Class MONDO:0006971 biolink:NamedThing sigmoid neoplasm Tumors or cancer of the sigmoid colon. tmpte7i6ely_mondo_relaxed.owl sigmoid colon neoplasm (disease)|tumor of sigmoid colon|sigmoid colon tumor|sigmoid colon neoplasm|neoplasm of sigmoid colon SCTID:126845000|ICD9:153.3|MedDRA:10026456|EFO:1001181|UMLS:C0037073|MESH:D012811|DOID:1896 Editor note: NCIT uses rectosigmoid as a region owl:Class CHEBI:49637 biolink:NamedThing hydrogen atom tmpte7i6ely_mondo_relaxed.owl H|hydrogene|1H|hidrogeno|Wasserstoff|hydrogen owl:Class CHEBI:33559 biolink:NamedThing s-block element atom tmpte7i6ely_mondo_relaxed.owl s-block elements|s-block element owl:Class MONDO:0004778 biolink:NamedThing epididymo-orchitis A disorder involving inflammation of the epididymis and testes. tmpte7i6ely_mondo_relaxed.owl ICD9:604.90|ICD10:N45|SCTID:197983000|ICD10:N45.3|UMLS:C0149881|ICD9:604|DOID:9401 owl:Class MONDO:0004779 biolink:NamedThing epididymitis Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. tmpte7i6ely_mondo_relaxed.owl epididymitis|epididymitis (disease)|epididymis|epididymal epididymitis (disease) MESH:D004823|HP:0000031|UMLS:C0014534|SCTID:31070006|ICD10:N45.1|DOID:9402|NCIT:C12328 owl:Class MONDO:0009030 biolink:NamedThing cranial nerves, recurrent paresis of tmpte7i6ely_mondo_relaxed.owl cranial nerves, recurrent paresis of MESH:C565672|OMIM:218200|UMLS:C1857530 owl:Class MONDO:0001287 biolink:NamedThing endometriosis in cutaneous scar tmpte7i6ely_mondo_relaxed.owl scar endometriosis|endometriosis in scar of skin ICD9:617.6|ICD10:N80.6|SCTID:53913001|UMLS:C0156348|DOID:11430 owl:Class MONDO:0005133 biolink:NamedThing endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. tmpte7i6ely_mondo_relaxed.owl endometriosis|endometriosis (disease) endometriosis (disease) ICD10:N80|ICD9:617.9|SCTID:129103003|DOID:289|NCIT:C3014|ICD10:N80.9|ICD9:617.8|EFO:0001065|HP:0030127|MESH:D004715|ICD9:617 owl:Class GO:1905503 biolink:NamedThing regulation of motile cilium assembly Any process that modulates the frequency, rate or extent of motile cilium assembly. tmpte7i6ely_mondo_relaxed.owl regulation of motile primary cilium formation|regulation of motile primary cilium assembly|regulation of motile primary cilia assembly|regulation of nodal cilium formation|regulation of nodal cilium assembly|regulation of motile primary cilia formation owl:Class MONDO:0017614 biolink:NamedThing X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl Young-Hughes syndrome|Sex-linked mental retardation, short stature, obesity and hypogonadism|X-linked intellectual disability - short stature – obesity|Sex-linked intellectual disability, short stature, obesity and hypogonadism UMLS:C0796264|ICD10:Q87.8|MESH:C536715|Orphanet:3055|GARD:0000345 owl:Class UBERON:0002398 biolink:NamedThing manus tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C19085 biolink:NamedThing Sexual Transmission tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C17214 biolink:NamedThing Disease Transmission tmpte7i6ely_mondo_relaxed.owl Transmission owl:Class UBERON:0004117 biolink:NamedThing pharyngeal pouch tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001776 biolink:NamedThing prostate calculus A concretion in the prostate. tmpte7i6ely_mondo_relaxed.owl calculus of prostate|prostate gland lower urinary tract calculus|prostatic lithiasis|Stone of prostate|lower urinary tract calculus of prostate gland|prostatic stone SCTID:85324003|ICD10:N42.0|DOID:13689|NCIT:C26936|UMLS:C0149525|ICD9:602.0 owl:Class MONDO:0003105 biolink:NamedThing prostate disorder A disease involving the prostate gland. tmpte7i6ely_mondo_relaxed.owl disease or disorder of prostate gland|prostate gland disease or disorder|prostate disorder|disease of prostate gland|prostate gland disease|disorder of prostate gland|prostate disease ICD9:602.8|ICD9:602.9|DOID:47|MESH:D011469|NCIT:C26865|UMLS:C0033575|SCTID:30281009|ICD10:N42.9 owl:Class CHEBI:22868 biolink:NamedThing bile salt A sodium salt of the conjugate of any bile acid with either glycine or taurine. tmpte7i6ely_mondo_relaxed.owl Bile acid|bile salts owl:Class CHEBI:38700 biolink:NamedThing organic sodium salt tmpte7i6ely_mondo_relaxed.owl organic sodium salts|organic sodium salt owl:Class UBERON:0007529 biolink:NamedThing loose mesenchyme tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017258 biolink:NamedThing idiopathic panuveitis Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. tmpte7i6ely_mondo_relaxed.owl SCTID:766933000|ICD10:H44.1|Orphanet:280921 owl:Class MONDO:0017255 biolink:NamedThing panuveitis A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. tmpte7i6ely_mondo_relaxed.owl diffuse uveitis|panuveitis (disease)|total uveitis|panuveitis panuveitis (disease) Orphanet:280898|ICD10:H44.1|SCTID:75614007|GARD:0008577|ICD9:360.12|ICD10:H44.11|EFO:1001082|MedDRA:10033687|NCIT:C84989|HP:0012121|DOID:12030|MESH:D015864 MONDO:0006885 owl:Class MONDO:0009309 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene. tmpte7i6ely_mondo_relaxed.owl Ncf1, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 1|p47-PHOX, deficiency of|soluble oxidase component II, deficiency of|neutrophil cytosol Factor 1, deficiency of|NCF1 chronic granulomatous disease|chronic granulomatous disease caused by mutation in NCF1|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I|CDG1|granulomatous disease, chronic, due to Ncf1 deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1|Soc2, deficiency of Orphanet:379|MESH:C565532|OMIM:233700|UMLS:C1856251|DOID:0070192 owl:Class MONDO:0018305 biolink:NamedThing chronic granulomatous disease Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. tmpte7i6ely_mondo_relaxed.owl CGD|congenital dysphagocytosis|chronic septic granulomatosis|Quie syndrome|granulomatous disease, chronic|Bridges-Good syndrome MedDRA:10008906|OMIM:233700|OMIM:306400|ICD10:D71|NCIT:C26788|OMIM:138990|OMIM:233690|MESH:D006105|SCTID:387759001|OMIM:613960|OMIM:233710|Orphanet:379|OMIM:233670|GARD:0006100|DOID:3265|UMLS:C0018203|OMIMPS:306400 https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease owl:Class GO:0099143 biolink:NamedThing presynaptic actin cytoskeleton The actin cytoskeleton that is part of a presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015629 biolink:NamedThing actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007301 biolink:NamedThing appendage blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003098 biolink:NamedThing mediastinal neural neoplasm A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma. tmpte7i6ely_mondo_relaxed.owl neurogenic tumor of the mediastinum|neurogenic neoplasm of the mediastinum|mediastinal neurogenic tumor|mediastinal neural tumor|mediastinal neural neoplasm|mediastinal neurogenic neoplasm|neurogenic neoplasm of mediastinum|malignant mediastinal neurogenic neoplasm|neurogenic tumor of mediastinum DOID:4691|NCIT:C6624|UMLS:C1334672 owl:Class MONDO:0001406 biolink:NamedThing peripheral nervous system neoplasm A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. tmpte7i6ely_mondo_relaxed.owl neoplasm of the PNS|peripheral nervous system tumor|tumor of PNS|neoplasm of PNS|nerve sheath tumors|peripheral nervous system neoplasm|tumor of the PNS|tumor of peripheral nerve|tumor of peripheral nervous system|peripheral nerve neoplasm|nerve sheath neoplasm|PNS tumor|PNS neoplasm|tumor of the peripheral nerve|neoplasms, PNS|neoplasm of peripheral nervous system|neoplasms, peripheral nervous system|PNS neoplasms|neoplasm of the peripheral nervous system|CNS-excluded nervous sys. cancer|peripheral nervous system neoplasm (disease)|neoplasm of the peripheral nerve|peripheral nerve tumor|neoplasm of peripheral nerve|tumor of the peripheral nervous system MESH:D018317|NCIT:C3321|DOID:1192|UMLS:C0031118|ONCOTREE:PNS|ICD9:239.2|MESH:D010524|SCTID:126980002|NCIT:C4972 owl:Class UBERON:0010698 biolink:NamedThing manual digit metacarpus pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013464 biolink:NamedThing episodic ataxia type 5 Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours. tmpte7i6ely_mondo_relaxed.owl CACNB4 hereditary episodic ataxia|hereditary episodic ataxia caused by mutation in CACNB4|episodic ataxia, type 5|EA5 MESH:C566601|DOID:0050993|UMLS:C1866039|OMIM:613855|SCTID:718756005|ICD10:G11.8|Orphanet:211067 owl:Class MONDO:0016227 biolink:NamedThing hereditary episodic ataxia Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2. tmpte7i6ely_mondo_relaxed.owl episodic ataxia|episodic ataxia syndrome|Isaacs syndrome|ea syndrome EFO:1000638|DOID:963|ICD10:G11.8|SCTID:421455009|Orphanet:211062|UMLS:C1720189|OMIMPS:160120|GARD:0009851 owl:Class MONDO:0007154 biolink:NamedThing arteriovenous malformations of the brain Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. tmpte7i6ely_mondo_relaxed.owl intracranial AVM|arteriovenous malformations of the brain|intracranial arteriovenous malformation|Bavm|cerebral arteriovenous malformations|intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|cerebral arteriovenous malformation OMIM:108010|DOID:0060688|ICD10:Q28.2|MESH:D002538|UMLS:C0007772|GARD:0003020|Orphanet:46724|NCIT:C2936|SCTID:234142008 owl:Class MONDO:0015473 biolink:NamedThing cryptorchidism-arachnodactyly-intellectual disability syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. tmpte7i6ely_mondo_relaxed.owl Van Benthem-Driessen-Hanveld syndrome|cryptorchidism arachnodactyly intellectual deficit UMLS:CN199616|Orphanet:1548|ICD10:Q87.8|GARD:0000860 owl:Class MONDO:0007023 biolink:NamedThing Yersinia infectious disease Infections with bacteria of the genus yersinia. tmpte7i6ely_mondo_relaxed.owl infections, Yersinia|infection, Yersinia|yersiniosis|infections, Yersinia |Yersinia infection|Yersinia infection NCIT:C128337|EFO:1001245|SCTID:83436008|MESH:D015009 owl:Class MONDO:0016512 biolink:NamedThing Kabuki syndrome Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. tmpte7i6ely_mondo_relaxed.owl Niikawa-Kuroki syndrome|NKS|KMS|Kabuki make up syndrome|Kabuki make-up syndrome SCTID:313426007|DOID:0060473|UMLS:C0796004|OMIM:300867|OMIM:147920|ICD10:Q87.0|Orphanet:2322|OMIMPS:147920|GARD:0006810|MESH:C537705|MedDRA:10063935|NCIT:C124837 owl:Class MONDO:0043195 biolink:NamedThing rubinstein taybi like syndrome tmpte7i6ely_mondo_relaxed.owl Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses GARD:0004745|UMLS:C2931052|MESH:C535877 owl:Class GO:0099602 biolink:NamedThing neurotransmitter receptor regulator activity A molecular function that directly (via physical interaction or direct modification) activates, inhibits or otherwise modulates the activity of a neurotransmitter receptor. Modulation of activity includes changes in desensitization rate, ligand affinity, ion selectivity and pore-opening/closing. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030545 biolink:NamedThing signaling receptor regulator activity Binds to and modulates the activity of a receptor. tmpte7i6ely_mondo_relaxed.owl receptor regulator activity owl:Class UBERON:0005147 biolink:NamedThing metanephric renal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004209 biolink:NamedThing renal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006089 biolink:NamedThing appendix goblet cell carcinoid An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine. tmpte7i6ely_mondo_relaxed.owl mucinous carcinoid tumor|goblet cell carcinoid tumor|goblet cell carcinoid of the appendix|appendix adenocarcinoid tumor|appendix goblet cell carcinoid tumor|goblet cell carcinoid of appendix|appendix mixed carcinoid-adenocarcinoma NCIT:C3689|EFO:1000090|ICDO:8243/3|ONCOTREE:GCCAP owl:Class MONDO:0003196 biolink:NamedThing appendix carcinoma A carcinoma that arises from epithelial cells of the vermiform appendix tmpte7i6ely_mondo_relaxed.owl appendix cancer|carcinoma of vermiform appendix|vermiform appendix carcinoma|carcinoma of appendix|carcinoma of the appendix|appendix carcinoma|Ca appendix NCIT:C9330|DOID:4902|SCTID:448992002|UMLS:C0728951 owl:Class MONDO:0021500 biolink:NamedThing benign neoplasm of spleen A benign neoplasm that involves the spleen. tmpte7i6ely_mondo_relaxed.owl benign splenic neoplasm|benign neoplasm of the spleen|spleen benign neoplasm NCIT:C4902|UMLS:C0686615|SCTID:92408009|ICD9:211.9 owl:Class MONDO:0000630 biolink:NamedThing immune system organ benign neoplasm A benign neoplasm that involves the immune organ. tmpte7i6ely_mondo_relaxed.owl immune organ benign neoplasm DOID:0060092 owl:Class UBERON:0006073 biolink:NamedThing thoracic region of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006077 biolink:NamedThing subdivision of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006641 biolink:NamedThing afferent loop syndrome A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. tmpte7i6ely_mondo_relaxed.owl MedDRA:10056245|DOID:8438|EFO:1000799|ICD9:537.89|MESH:D000343|SCTID:20813000|UMLS:C0001727 owl:Class MONDO:0004566 biolink:NamedThing postgastrectomy syndrome Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. tmpte7i6ely_mondo_relaxed.owl postgastric surgery syndrome MESH:D011178|UMLS:C0032763|ICD10:K91.1|DOID:8439|SCTID:80193009|ICD9:564.2 owl:Class GO:0016645 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on the CH-NH group of donors, other acceptors owl:Class GO:0016491 biolink:NamedThing oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on other substrates|redox activity owl:Class MONDO:0019420 biolink:NamedThing X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl UMLS:CN206176|ICD10:Q87.8|Orphanet:85322|SCTID:719011002 owl:Class MONDO:0004966 biolink:NamedThing gastritis Inflammation of the stomach. tmpte7i6ely_mondo_relaxed.owl gastritis|erosive gastropathy|erosive gastritis|inflammation of stomach|acute gastric mucosal erosion|stomach inflammation|gastritis (disease) gastritis (disease) ICD10:K29.7|UMLS:C0017152|EFO:0000217|ICD9:535.00|ICD9:535.40|UMLS:C0267112|MESH:D005756|ICD9:535.01|ICD9:535.4|DOID:4029|ICD9:535.41|UMLS:C2243090|HP:0005263|SCTID:4556007|UMLS:C2243088|ICD9:535.0|UMLS:C3854048|NCIT:C26780 owl:Class MONDO:0019959 biolink:NamedThing glucagonoma Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. tmpte7i6ely_mondo_relaxed.owl glucagonoma|pancreatic glucagonoma|glucagonoma syndrome NCIT:C95597|SCTID:16424000|EFO:1000441|UMLS:C0017689|GARD:0002496|Orphanet:97280|ICD10:E16.8|MESH:D005935|MedDRA:10018404 owl:Class MONDO:0019954 biolink:NamedThing pancreatic neuroendocrine tumor Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma). tmpte7i6ely_mondo_relaxed.owl well-differentiated pancreatic NEN|well differentiated pancreatic endocrine neoplasm|islet cell tumors of the pancreas|PANET|well-differentiated pancreatic neuroendocrine neoplasm|islet cell tumor|pancreatic endocrine tumor|well-differentiated NEN of pancreas|islet cell tumors - pancreas|pancreatic NET|pancreatic neuroendocrine tumor|well differentiated pancreatic endocrine tumor|neuroendocrine tumor of pancreas|well-differentiated neuroendocrine neoplasm of pancreas ICD10:E16.8|ONCOTREE:PANET|NCIT:C27720|GARD:0013034|DOID:1799|EFO:1000045|Orphanet:97253|ICDO:8150/1 owl:Class UBERON:0036146 biolink:NamedThing cardiopharyngeal field tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000006 biolink:NamedThing Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. tmpte7i6ely_mondo_relaxed.owl Autosomal dominant form|Autosomal dominant type|Autosomal dominant UMLS:C0443147|SNOMEDCT_US:263681008 HP:0001451|HP:0001415|HP:0001447|HP:0001448|HP:0001455|HP:0001463|HP:0001456 human_phenotype owl:Class HP:0000005 biolink:NamedThing Mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. tmpte7i6ely_mondo_relaxed.owl Inheritance UMLS:C1708511 HP:0001453|HP:0001461 human_phenotype owl:Class UBERON:0004487 biolink:NamedThing musculature of forelimb zeugopod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016221 biolink:NamedThing temporomandibular joint anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:210581 owl:Class UBERON:0016855 biolink:NamedThing ventral part of optic cup tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100362 biolink:NamedThing lip herpes simplex type 2 infectious disorder Any herpes simplex type 2 infectious disease that involves the lip. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0043653 biolink:NamedThing herpes labialis A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region. tmpte7i6ely_mondo_relaxed.owl herpes labialis|Sores, cold|herpes simplex labialis|labial Herpes simplex|Sore, cold|cold sore|fever blister|blister, fever|cold sores|fever blisters|blisters, fever|Herpes simplex, labial UMLS:C0019345|SCTID:1475003|MESH:D006560|NCIT:C34695|EFO:1001347 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class CHEBI:33296 biolink:NamedThing alkali metal molecular entity A molecular entity containing one or more atoms of an alkali metal. tmpte7i6ely_mondo_relaxed.owl alkali metal molecular entities owl:Class CHEBI:33674 biolink:NamedThing s-block molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. tmpte7i6ely_mondo_relaxed.owl s-block molecular entities|s-block compounds|s-block molecular entity owl:Class GO:0006586 biolink:NamedThing indolalkylamine metabolic process The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. tmpte7i6ely_mondo_relaxed.owl indolamine metabolism|indolamine metabolic process|indolalkylamine metabolism owl:Class GO:0042430 biolink:NamedThing indole-containing compound metabolic process The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpte7i6ely_mondo_relaxed.owl indole and derivative metabolic process|ketole metabolic process|indole-containing compound metabolism|ketole metabolism|indole and derivative metabolism|indole derivative metabolism|indole derivative metabolic process owl:Class MONDO:0044327 biolink:NamedThing polycystic liver disease 4 with or without kidney cysts An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure. tmpte7i6ely_mondo_relaxed.owl polycystic liver disease 4 with or without kidney cysts|PCLD4 OMIM:617875|UMLS:CN818987 owl:Class MONDO:0000447 biolink:NamedThing autosomal dominant polycystic liver disease An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver. tmpte7i6ely_mondo_relaxed.owl ADPLD|polycystic liver disease|PCLD|isolated congenital polycystic liver disease|AD polycystic liver disease|isolated polycystic liver disease|congenital cystic liver disease|congenital hepatic cyst|fibrocystic liver disease Orphanet:2924|ICD10:Q44.6|MedDRA:10048834|MedDRA:10010427|UMLS:C0158683|GARD:0009457|MedDRA:10083939|DOID:0050770|NCIT:C82833|OMIMPS:174050|SCTID:72925005|HP:0006557|ICD9:751.62|OMIM:174050 https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease owl:Class GO:1904729 biolink:NamedThing regulation of intestinal lipid absorption Any process that modulates the frequency, rate or extent of intestinal lipid absorption. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032368 biolink:NamedThing regulation of lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019661 biolink:NamedThing Pfeiffer syndrome type 3 Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.0|Orphanet:93260|UMLS:CN206535 owl:Class MONDO:0007043 biolink:NamedThing Pfeiffer syndrome Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. tmpte7i6ely_mondo_relaxed.owl Pfeiffer type acrocephalosyndactyly|ACS5|type V Acrocephalosyndactyly|acrocephalosyndactyly type V|craniofacial-skeletal-Dermatologic dysplasia|ACS 5|acrocephalosyndactyly, type 5|Pfeiffer syndrome|acrocephalosyndactylia type V|Noack syndrome|acrocephalosyndactyly type 5 ICD10:Q87.0|Orphanet:710|OMIM:101600|UMLS:C0220658|SCTID:70410008|MESH:D000168|GARD:0007380|DOID:14705|NCIT:C99100 https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome owl:Class GO:0002660 biolink:NamedThing positive regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. tmpte7i6ely_mondo_relaxed.owl up-regulation of peripheral tolerance induction|upregulation of peripheral tolerance induction|activation of peripheral tolerance induction|up regulation of peripheral tolerance induction|stimulation of peripheral tolerance induction owl:Class GO:0002658 biolink:NamedThing regulation of peripheral tolerance induction Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048699 biolink:NamedThing generation of neurons The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. tmpte7i6ely_mondo_relaxed.owl neuron generation owl:Class GO:0022008 biolink:NamedThing neurogenesis Generation of cells within the nervous system. tmpte7i6ely_mondo_relaxed.owl neural cell differentiation|nervous system cell generation owl:Class MONDO:0011371 biolink:NamedThing hydroa vacciniforme, familial An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary hydroa vacciniforme|familial hydroa vacciniforme|hydroa vacciniforme, familial GARD:0010079|UMLS:C1863533|OMIM:603794|MESH:C536077 https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial owl:Class MONDO:0018024 biolink:NamedThing hydroa vacciniforme A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. tmpte7i6ely_mondo_relaxed.owl hV MESH:D006837|OMIM:603794|GARD:0009654|Orphanet:330058|ICD10:L56.4|SCTID:200837006|UMLS:C0020241|NCIT:C84766 https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme owl:Class ECTO:9001809 biolink:NamedThing exposure to polar solvent An exposure to polar solvent. tmpte7i6ely_mondo_relaxed.owl exposure to polar solvent owl:Class GO:1905941 biolink:NamedThing positive regulation of gonad development Any process that activates or increases the frequency, rate or extent of gonad development. tmpte7i6ely_mondo_relaxed.owl up-regulation of gonad development|upregulation of gonadogenesis|positive regulation of gonadogenesis|upregulation of gonad development|up-regulation of gonadogenesis|up regulation of gonad development|activation of gonadogenesis|up regulation of gonadogenesis|activation of gonad development owl:Class GO:1900248 biolink:NamedThing negative regulation of cytoplasmic translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation. tmpte7i6ely_mondo_relaxed.owl down-regulation of cytoplasmic translational elongation|down regulation of cytoplasmic translational elongation|inhibition of cytoplasmic translational elongation|downregulation of cytoplasmic translational elongation owl:Class GO:0045900 biolink:NamedThing negative regulation of translational elongation Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. tmpte7i6ely_mondo_relaxed.owl down regulation of translational elongation|downregulation of translational elongation|inhibition of translational elongation|down-regulation of translational elongation owl:Class HGNC:21686 biolink:NamedThing RNASET2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001952 biolink:NamedThing epithelium of oropharynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004808 biolink:NamedThing gastrointestinal system epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002785 biolink:NamedThing negative regulation of antimicrobial peptide production Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. tmpte7i6ely_mondo_relaxed.owl down-regulation of antimicrobial peptide production|down regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production|downregulation of antimicrobial peptide production owl:Class MONDO:0013806 biolink:NamedThing familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome tmpte7i6ely_mondo_relaxed.owl cutaneous telangiectasia and cancer syndrome, familial|familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|telangiectasia, cutaneous, and cancer syndrome, familial|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome|FCTCS UMLS:C3281203|OMIM:614564|Orphanet:313846 owl:Class MONDO:0018743 biolink:NamedThing immune-mediated acquired neuromuscular junction disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN242076|Orphanet:464764 owl:Class MONDO:0020125 biolink:NamedThing acquired neuromuscular junction disease An instance of neuromuscular junction disease that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired neuromuscular junction disease UMLS:CN207015|Orphanet:98494 owl:Class CHEBI:84410 biolink:NamedThing sphingoid base(1+) A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base. tmpte7i6ely_mondo_relaxed.owl 2-amino-1,3-dihydroxysphingoid base(1+)|a sphingoid base owl:Class CHEBI:83876 biolink:NamedThing cationic sphingoid An organic cation obtained by protonation of the amino function of any sphingoid tmpte7i6ely_mondo_relaxed.owl sphingoid cations|sphingoid cation|cationic sphingoids owl:Class MONDO:0004348 biolink:NamedThing retinal telangiectasia tmpte7i6ely_mondo_relaxed.owl HP:0007763|DOID:7736|UMLS:C0154835|SCTID:84884003|ICD9:362.15 Consider obsoleting and ceding to HPO owl:Class UBERON:0005204 biolink:NamedThing larynx submucosa gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023076 biolink:NamedThing eosinophilic pustular folliculitis Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition. tmpte7i6ely_mondo_relaxed.owl eosinophilic folliculitis, pustular|eosinophilic folliculitis|Ofuji disease|Ofuji's disease|EPF SCTID:95333004|UMLS:C0406305|GARD:0008534|MESH:C535953|ICD9:704.8 https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis owl:Class MONDO:0006552 biolink:NamedThing folliculitis Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. tmpte7i6ely_mondo_relaxed.owl hair follicle dermatitis|dermatitis of hair follicle NCIT:C94408|MESH:D005499|Wikipedia:Folliculitis|ICD9:704.8|EFO:1000702|SCTID:13600006|DOID:4409 owl:Class ENVO:01001199 biolink:NamedThing terrestrial environmental zone An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000408 biolink:NamedThing environmental zone A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. tmpte7i6ely_mondo_relaxed.owl environmental area owl:Class HGNC:9476 biolink:NamedThing HTRA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015914 biolink:NamedThing primary orthostatic hypotension Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication. tmpte7i6ely_mondo_relaxed.owl neurogenic orthostatic hypotension GARD:0012959|Orphanet:182058 https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension owl:Class GO:0006142 biolink:NamedThing regulation of pyrimidine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpte7i6ely_mondo_relaxed.owl regulation of pyrimidine base metabolism|regulation of pyrimidine base metabolic process owl:Class GO:0062012 biolink:NamedThing regulation of small molecule metabolic process Any process that modulates the rate, frequency or extent of a small molecule metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of small molecule metabolism owl:Class GO:0030221 biolink:NamedThing basophil differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. tmpte7i6ely_mondo_relaxed.owl basophil cell differentiation owl:Class GO:0030851 biolink:NamedThing granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. tmpte7i6ely_mondo_relaxed.owl granulocyte cell differentiation owl:Class MONDO:0019522 biolink:NamedThing recessive dystrophic epidermolysis bullosa-generalized other Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. tmpte7i6ely_mondo_relaxed.owl RDEB, non-Hallopeau-Siemens type|RDEB generalisata mitis|recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|recessive dystrophic epidermolysis bullosa, generalized intermediate|generalized mitis RDEB|autosomal recessive dystrophic epidermolysis bullosa, generalized other|RDEB-O|RDEB, generalized intermediate|RDEB-generalized other UMLS:CN206337|GARD:0012794|Orphanet:89842|ICD10:Q81.2 https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other owl:Class MONDO:0006543 biolink:NamedThing epidermolysis bullosa dystrophica A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa dystrophica|dermolytic epidermolysis bullosa|epidermolysis bullosa, dermolytic|DEB DOID:4959|EFO:1000692|Wikipedia:Epidermolysis_bullosa_dystrophica|MESH:D016108|ICD9:757.39|ICD10:Q81.2|NCIT:C84691|SCTID:254185007|GARD:0002150|Orphanet:303 owl:Class NCBITaxon:32066 biolink:NamedThing Fusobacteria tmpte7i6ely_mondo_relaxed.owl Fusobacteriota|Fusobacteraeota|fusobacteria PMID:24969840|GC_ID:11|PMID:26654112|PMID:29458499 ncbi_taxonomy owl:Class NCBITaxon:2 biolink:NamedThing Bacteria tmpte7i6ely_mondo_relaxed.owl Prokaryotae|prokaryote|Prokaryota|bacteria|prokaryotes|Procaryotae|Monera|eubacteria PMID:11540071|PMID:11542017|PMID:10843050|PMID:270744|PMID:11411719|PMID:11542087|PMID:11211268|PMID:10425796|PMID:10425795|PMID:10425797|PMID:8590690|PMID:9103655|PMID:11321083|PMID:10939677|PMID:11321113|PMID:12054223|PMID:10939673|PMID:10490293|GC_ID:11|PMID:8186100|PMID:2112744|PMID:11760965|PMID:9336922|PMID:10939651|PMID:7520741|PMID:8123559 ncbi_taxonomy owl:Class MONDO:0016127 biolink:NamedThing bacterial myositis tmpte7i6ely_mondo_relaxed.owl Orphanet:206994|ICD10:M60.0|SCTID:30330001 owl:Class MONDO:0016125 biolink:NamedThing infectious, fungal or parasitic myopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:206988|ICD10:M60.0 owl:Class MONDO:0020428 biolink:NamedThing congenital Gerbode defect tmpte7i6ely_mondo_relaxed.owl Gerbode defect|left ventricular-to-right atrial communication Orphanet:99095|ICD10:Q21.0|SCTID:204312002 owl:Class MONDO:0019512 biolink:NamedThing congenital heart malformation A disease that has its basis in the disruption of heart development. tmpte7i6ely_mondo_relaxed.owl rare congenital non-syndromic heart malformation|congenital heart malformation|disorder of heart development|congenital non-syndromic heart malformation|heart development disease OMIM:306955|OMIM:614980|EFO:0005269|Orphanet:88991 owl:Class ENVO:09000008 biolink:NamedThing concentration of carbon atom in soil The concentration of a carbon atom when measured in soil. tmpte7i6ely_mondo_relaxed.owl soil carbon atom concentration owl:Class ENVO:09000007 biolink:NamedThing concentration of carbon atom in environmental material The concentration of a carbon atom when measured in environmental material. tmpte7i6ely_mondo_relaxed.owl environmental material carbon atom concentration owl:Class MONDO:0044764 biolink:NamedThing benign choroid plexus neoplasm tmpte7i6ely_mondo_relaxed.owl benign tumor of choroid plexus|benign choroid plexus tumor|benign choroid plexus neoplasms|benign choroid plexus tumors|benign choroid plexus neoplasm|benign tumor of the choroid plexus|benign neoplasm of the choroid plexus|benign neoplasm of choroid plexus UMLS:C0346290|NCIT:C8405|SCTID:254943007 owl:Class MONDO:0021451 biolink:NamedThing benign neoplasm of brain A benign neoplasm that involves the brain. tmpte7i6ely_mondo_relaxed.owl brain benign neoplasm|benign tumor of the brain|benign tumor of brain|benign neoplasm of the brain|brain neoplasms, benign|benign brain neoplasm|benign brain tumor SCTID:92030004|EFO:1000107|ICD9:225.0|NCIT:C4781 owl:Class MONDO:0001294 biolink:NamedThing Horner syndrome Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause. tmpte7i6ely_mondo_relaxed.owl cervical sympathetic paralysis|Bernard-Horner syndrome|Bernard Horner syndrome|Horner syndrome|Horner's syndrome|oculosympathetic palsy ICD10:G90.2|SCTID:192915005|NCIT:C28155|ICD9:337.09|MESH:D006732|GARD:0006670|DOID:11486 https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome owl:Class MONDO:0001300 biolink:NamedThing autonomic neuropathy An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. tmpte7i6ely_mondo_relaxed.owl autonomic peripheral neuropathy|peripheral neuropathy of autonomic nervous system|autonomic nervous system peripheral neuropathy CSP:2042-2001|SCTID:277879009|NCIT:C27033|UMLS:C0259749|DOID:11504|CSP:2049-9000|DOID:0060054 owl:Class CL:0002030 biolink:NamedThing Fc-epsilon RIalpha-high basophil progenitor cell A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high. tmpte7i6ely_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-27T01:22:32Z cell owl:Class CL:0000613 biolink:NamedThing basophil progenitor cell A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa. tmpte7i6ely_mondo_relaxed.owl CFU-Bas|colony forming unit basophil|basophilic stem cell|BaP BaP are also CD13-low and integrin beta-7-low. They are lin-negative (CD2, CD3e, CD4, CD5, CD8, CD11b, CD14, CD19, CD20, ly6g, ly76, and NCAM-1). They also lack expression of mast cell protease 1 (MCP-1) and microphthalmia-associated transcription factor (mitf). cell owl:Class UBERON:0014531 biolink:NamedThing white matter lamina of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014530 biolink:NamedThing white matter lamina of neuraxis tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0009006 biolink:NamedThing shoot system A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them. tmpte7i6ely_mondo_relaxed.owl thallus (related)|tree crown (narrow)|shoot (related)|シュート系、苗条系 (Japanese, exact)|sistema de epiblasto (epiblastema) (Spanish, exact)|Poaceae crown (related)|thalli (related) PO_GIT:135 The shoot system is generally used to refer to the above-ground plant parts, although some plants have parts of their shoot system underground. For example, a rhizome (PO:0004542), bulb (PO:0025356), a corm (PO:0025355) or a subterranean tuber (PO:0004547), as in Solanum tuberosum (potato) or yam, are all part of the shoot system. plant_anatomy owl:Class PO:0025007 biolink:NamedThing collective plant organ structure A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007). tmpte7i6ely_mondo_relaxed.owl estructura vegetal colectiva de órgano (Spanish, exact)|集合植物器官構造 (Japanese, exact) PO_GIT:63 Organs can be of the same type or different types. Examples include flower (PO:0009046), perianth (PO:0009058), and inflorescence (PO:0009049). See also collective organ part structure (PO:0025269), for plant structures composed of parts of multiple organs, but no complete plant organs. This was formerly named collective plant structure. rwalls 2010-02-09T04:12:11Z plant_anatomy owl:Class MONDO:0009113 biolink:NamedThing hemolytic anemia due to diphosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. tmpte7i6ely_mondo_relaxed.owl bisphosphoglyceromutase deficiency|diphosphoglycerate phosphatase deficiency|diphosphoglycerate mutase deficiency of erythrocyte|bisphosphoglycerate mutase deficiency|DPGM deficiency|BPGM deficiency OMIM:222800|UMLS:C1291620|DOID:0111630|Orphanet:714|NCIT:C131638|GARD:0001874|ICD10:D55.2 owl:Class MONDO:0003212 biolink:NamedThing nasal cavity carcinoma A carcinoma that arises from epithelial cells of the nasal cavity tmpte7i6ely_mondo_relaxed.owl carcinoma of the nasal cavity|nasal cavity cancer|nasal cavity carcinoma|carcinoma of nasal cavity|cancer of the nasal cavity|cancer of nasal cavity DOID:4931|SCTID:448990005|NCIT:C9336|UMLS:C1377785 owl:Class MONDO:0001128 biolink:NamedThing nasal cavity cancer A malignant neoplasm involving the nasal cavity tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of nasal cavities|malignant nasal cavity neoplasm|nasal cavity cancer|malignant neoplasm of the nasal cavity|malignant neoplasm of nasal cavity|malignant nasal cavity tumor|malignant tumor of the nasal cavity|malignant tumor of nasal cavity|cancer of nasal cavity UMLS:C0728864|DOID:10811|ICD9:160.0|NCIT:C4918|ICD10:C30.0|SCTID:363422006 owl:Class MONDO:0004153 biolink:NamedThing childhood central nervous system embryonal carcinoma An embryonal carcinoma that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl embryonal carcinoma of the childhood CNS|embryonal carcinoma of the pediatric central nervous system|embryonal carcinoma of the pediatric CNS|embryonal carcinoma of the central nervous system of childhood|embryonal carcinoma of childhood CNS|pediatric central nervous system embryonal carcinoma|childhood embryonal carcinoma of the central nervous system|embryonal carcinoma of pediatric central nervous system|pediatric CNS embryonal cell carcinoma|childhood central nervous system embryonal carcinoma|childhood CNS embryonal cell carcinoma|embryonal carcinoma of childhood central nervous system|embryonal carcinoma of the childhood central nervous system|pediatric embryonal carcinoma of the central nervous system|embryonal carcinoma of pediatric CNS UMLS:C1377605|NCIT:C6208|DOID:7231 owl:Class MONDO:0018843 biolink:NamedThing embryonal carcinoma of the central nervous system A embryonal carcinoma that involves the central nervous system. tmpte7i6ely_mondo_relaxed.owl embryonal carcinoma|central nervous system embryonal carcinoma|embryonal carcinoma of CNS|embryonal carcinoma of the central nervous system|embryonal carcinoma of the CNS UMLS:C1333377|ONCOTREE:BEC|NCIT:C7010|Orphanet:48736|ICD10:C71.9|DOID:7232 owl:Class UBERON:0008814 biolink:NamedThing pharyngeal arch system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28887 biolink:NamedThing LEMD3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:39447 biolink:NamedThing pyrimidines Any compound having a pyrimidine as part of its structure. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38313 biolink:NamedThing diazines Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004616 biolink:NamedThing herpetic whitlow A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. tmpte7i6ely_mondo_relaxed.owl herpetic felon|Simplexvirus paronychia (disease)|Simplexvirus caused paronychia (disease) UMLS:C0153042|NCIT:C128402|ICD9:054.6|SCTID:43891009|DOID:8607 owl:Class MONDO:0011273 biolink:NamedThing H syndrome H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). tmpte7i6ely_mondo_relaxed.owl H syndrome|Faisalabad histiocytosis|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|pigmented hypertrichosis with insulin-dependent diabetes mellitus|histiocytosis-lymphadenopathy plus syndrome|sinus histiocytosis and massive lymphadenopathy|SLC29A3 spectrum disorder|histiocytosis with Joint contractures and sensorineural deafness|Asrar Facharzt Haque syndrome|Rosai-Dorfman disease, familial|HJCD OMIM:602782|MESH:C535391|GARD:0000581|UMLS:C1864445|Orphanet:168569|UMLS:C2930890|GARD:0010239|MESH:C538322|SCTID:711159002|ICD10:D76.3 https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome owl:Class UBERON:0003571 biolink:NamedThing trachea connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003580 biolink:NamedThing lower respiratory tract connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901317 biolink:NamedThing regulation of flagellated sperm motility Any process that modulates the frequency, rate or extent of flagellated sperm motility. tmpte7i6ely_mondo_relaxed.owl regulation of sperm motility|regulation of sperm movement owl:Class GO:0060295 biolink:NamedThing regulation of cilium movement involved in cell motility Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013448 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 8 tmpte7i6ely_mondo_relaxed.owl generalized epilepsy with febrile seizures plus, type 8|Gefs+, type 8|GEFSP8 OMIM:613828|Orphanet:36387|DOID:0111299|UMLS:C3151191 owl:Class MONDO:0018214 biolink:NamedThing generalized epilepsy with febrile seizures plus A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS). tmpte7i6ely_mondo_relaxed.owl epilepsy, generalized, with febrile seizures plus|genetic epilepsy with febrile seizures plus|genetic epilepsy with febrile seizures-plus|GEFS+|generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures-plus OMIM:613863|UMLS:C3502809|OMIM:616172|OMIM:611277|OMIM:613060|DOID:0060170|SCTID:699688008|MESH:C565808|ICD10:G40.3|OMIM:613828|NCIT:C122811|Orphanet:36387|OMIM:612279|OMIM:604403|OMIM:609800|OMIM:604233|OMIMPS:604233 owl:Class MONDO:0007623 biolink:NamedThing flushing of ears and somnolence tmpte7i6ely_mondo_relaxed.owl flushing of ears and somnolence UMLS:C1851055|OMIM:136200 owl:Class UBERON:0013637 biolink:NamedThing prostate gland lateral lobe tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q23 biolink:NamedThing 2q23 (Human) tmpte7i6ely_mondo_relaxed.owl 154000000 147900000 hg38 owl:Class GO:0051355 biolink:NamedThing proprioception involved in equilibrioception The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity. tmpte7i6ely_mondo_relaxed.owl perception of orientation with respect to gravity by proprioception|proprioception during equilibrioception|equilibrioception by proprioception owl:Class GO:0019230 biolink:NamedThing proprioception The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070254 biolink:NamedThing mucus secretion The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. tmpte7i6ely_mondo_relaxed.owl mucus production owl:Class GO:0032941 biolink:NamedThing secretion by tissue The controlled release of a substance by a tissue. tmpte7i6ely_mondo_relaxed.owl tissue secretion|expulsion of gland contents owl:Class OBO:CHR_9606-chr15q26-qter biolink:NamedThing 15q26-qter (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0014404 biolink:NamedThing Webb-Dattani syndrome tmpte7i6ely_mondo_relaxed.owl WEDAS|hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies|Webb-Dattani syndrome|hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome|WEBB-Dattani syndrome UMLS:C4014708|OMIM:615926|Orphanet:370006 owl:Class UBERON:0005257 biolink:NamedThing manual digit mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010702 biolink:NamedThing digit mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045581 biolink:NamedThing negative regulation of T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of T cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T cell development|down regulation of T cell differentiation|negative regulation of T-lymphocyte differentiation|negative regulation of T-cell differentiation|inhibition of T cell differentiation|downregulation of T cell differentiation owl:Class MONDO:0017706 biolink:NamedThing disorder of carbohydrate absorption and transport tmpte7i6ely_mondo_relaxed.owl UMLS:CN227180|Orphanet:309001 owl:Class MONDO:0019214 biolink:NamedThing inborn carbohydrate metabolic disorder An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn error of carbohydrate metabolic process|disorder of carbohydrate metabolism|inborn errors of carbohydrate metabolism|rare inborn error of carbohydrate metabolic process|inborn carbohydrate metabolic process disorder|carbohydrate metabolism disorder|inborn carbohydrate metabolism disorder|carbohydrate metabolic disorder|disorder of carbohydrate transport and metabolism MESH:D002239|EFO:1000061|DOID:2978|NCIT:C97089|MedDRA:10061023|ICD9:271.8|Orphanet:79161 owl:Class OBO:CHR_9606-chr2q33 biolink:NamedThing 2q33 (Human) tmpte7i6ely_mondo_relaxed.owl 208200000 196600000 hg38 owl:Class MONDO:0006279 biolink:NamedThing lung sarcomatoid carcinoma A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. tmpte7i6ely_mondo_relaxed.owl sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma ONCOTREE:SARCL|ICD9:162.9|SCTID:707460002|EFO:1000336|NCIT:C45540 owl:Class UBERON:0006048 biolink:NamedThing digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019221 biolink:NamedThing digit 1 or 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012463 biolink:NamedThing cloacal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013234 biolink:NamedThing hypokalemic periodic paralysis, type 2 tmpte7i6ely_mondo_relaxed.owl HOKPP2|hypokalemic periodic paralysis, type 2 OMIM:613345|UMLS:C2750061|Orphanet:681|MESH:C567635 owl:Class MONDO:0008223 biolink:NamedThing hypokalemic periodic paralysis Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. tmpte7i6ely_mondo_relaxed.owl periodic hypokalemic paralysis|periodic paralysis I|familial periodic paralysis (& [hypokalaemic])|Westphall disease|HKPP|HOKPP|hypokalemic periodic paralysis|hypokalemic familial periodic paralysis|HypoPP|familial hypokalemic periodic paralysis GARD:0006729|OMIM:170400|MESH:D020514|OMIM:613345|ICD10:G72.3|UMLS:C0238357|DOID:14452|SCTID:82732003|UMLS:C0238358|Orphanet:681|NCIT:C84775 https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis owl:Class UBERON:0001802 biolink:NamedThing posterior segment of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019543 biolink:NamedThing acquired aneurysmal subarachnoid hemorrhage Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. tmpte7i6ely_mondo_relaxed.owl Orphanet:90065|UMLS:CN206370|ICD10:I60.9 owl:Class MONDO:0005099 biolink:NamedThing subarachnoid hemorrhage Intracranial hemorrhage into the subarachnoid space. tmpte7i6ely_mondo_relaxed.owl subarachnoid hemorrhage (disease)|subarachnoid hemorrhage subarachnoid hemorrhage (disease) EFO:0000713|NCIT:C50757|MESH:D013345|HP:0002138|ICD9:430|UMLS:C0038525|SCTID:21454007 owl:Class MONDO:0014954 biolink:NamedThing Ehlers-Danlos syndrome, periodontal type 2 tmpte7i6ely_mondo_relaxed.owl EDSPD2|Ehlers-Danlos syndrome, periodontal type, 2 OMIM:617174 owl:Class MONDO:0007527 biolink:NamedThing Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type VIII|Ehlers-Danlos syndrome, type 8|Ehlers-Danlos syndrome type 8 (formerly)|periodontal EDS|EDS VIII|EDS8|EDS VIII (formerly)|Ehlers-Danlos syndrome, type VIII (formerly)|periodontal Ehlers-Danlos syndrome|EDS 8|pEDS|EDS8 (formerly)|Ehlers-Danlos syndrome type 8|Ehlers-Danlos syndrome, periodontitis type|Ehlers-Danlos syndrome, periodontosis type OMIM:617174|GARD:0012474|MESH:C562626|Orphanet:75392|ICD10:Q79.6|SCTID:50869007 owl:Class HGNC:13743 biolink:NamedThing ALOXE3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001120 biolink:NamedThing chronic frontal sinusitis Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpte7i6ely_mondo_relaxed.owl frontal sinusitis, chronic SCTID:60130002|NCIT:C34473|DOID:10790|ICD10:J32.1|ICD9:473.1|UMLS:C0008683 owl:Class MONDO:0006031 biolink:NamedThing chronic rhinosinusitis Chronic form of sinusitis. tmpte7i6ely_mondo_relaxed.owl chronic sinusitis|sinusitis, chronic PMID:25838086|NCIT:C35151|ICD9:473.8|SCTID:40055000|EFO:1000024|ICD9:473.9|UMLS:C0149516 owl:Class MONDO:0006754 biolink:NamedThing esophageal diverticulosis A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus. tmpte7i6ely_mondo_relaxed.owl UMLS:C0917875|MESH:D045723|DOID:13185|EFO:1000930 owl:Class GO:0007589 biolink:NamedThing body fluid secretion The controlled release of a fluid by a cell or tissue in an animal. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046903 biolink:NamedThing secretion The controlled release of a substance by a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902064 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in spermatogenesis Any regulation of transcription from RNA polymerase II promoter that is involved in spermatogenesis. tmpte7i6ely_mondo_relaxed.owl global transcription regulation from Pol II promoter involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter, global involved in spermatogenesis|regulation of gene-specific transcription from RNA polymerase II promoter involved in generation of spermatozoa|regulation of global transcription from Pol II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter, global involved in generation of spermatozoa|regulation of transcription from Pol II promoter involved in generation of spermatozoa|regulation of transcription from Pol II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in spermatogenesis|regulation of gene-specific transcription from RNA polymerase II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter involved in generation of spermatozoa owl:Class GO:0006357 biolink:NamedThing regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpte7i6ely_mondo_relaxed.owl regulation of transcription from Pol II promoter|regulation of transcription from RNA polymerase II promoter, global|global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter owl:Class MONDO:0024512 biolink:NamedThing spondyloarthropathy, susceptibility to tmpte7i6ely_mondo_relaxed.owl SPDA UMLS:CN118840|OMIMPS:106300 owl:Class MONDO:0002545 biolink:NamedThing spinal cord disorder A disease involving the spinal cord. tmpte7i6ely_mondo_relaxed.owl myelopathy|spinal cord disease|disease of the spinal cord|spinal cord disorder|disorder of spinal cord|disease of spinal cord|spinal cord disease or disorder|disease or disorder of spinal cord SCTID:48522003|UMLS:C0037928|ICD10:G95.9|ICD9:336.9|NCIT:C97110|MESH:D013118|ICD9:336.8|DOID:319 owl:Class UBERON:0003664 biolink:NamedThing manual digit muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001652 biolink:NamedThing left pulmonary artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012455 biolink:NamedThing Kleefstra syndrome A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. tmpte7i6ely_mondo_relaxed.owl chromosome 9q deletion syndrome|9Q subtelomeric deletion syndrome|9q-syndrome|Kleefstra syndrome|9q34.3 microdeletion syndrome|9q34 deletion syndrome|chromosome 9Q34.3 deletion syndrome|9Q- syndrome OMIMPS:610253|GARD:0008672|ICD10:Q87.8|Orphanet:261494|DOID:0060352|OMIM:610253 https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome owl:Class MONDO:0003632 biolink:NamedThing endocervicitis Inflammation of the endocervix. tmpte7i6ely_mondo_relaxed.owl inflammation of endocervix|endocervix inflammation NCIT:C26762|SCTID:31354001|DOID:5757|UMLS:C0014127 owl:Class UBERON:0003662 biolink:NamedThing forelimb muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014794 biolink:NamedThing pectoral appendage muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013881 biolink:NamedThing congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. tmpte7i6ely_mondo_relaxed.owl congenital ILNEB syndrome|congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome|congenital NEP syndrome|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|junctional epidermolysis bullosa with respiratory and renal involvement|ILNEB|JEB-RR|JEB with respiratory and renal involvement UMLS:C3553636|Orphanet:306504|OMIM:614748 owl:Class MONDO:0019723 biolink:NamedThing disease of glomerular basement membrane tmpte7i6ely_mondo_relaxed.owl basement membrane disease UMLS:CN206630|Orphanet:93550 owl:Class MONDO:0021227 biolink:NamedThing adrenal gland neoplasm A neoplasm (disease) that involves the adrenal gland. tmpte7i6ely_mondo_relaxed.owl tumor of adrenal gland|neoplasm of the adrenal gland|adrenal tumor|neoplasm of adrenal gland|adrenal gland neoplasm (disease)|adrenal neoplasms|adrenal gland tumor|ADRENALGLAND|adrenal neoplasm|tumor of the adrenal gland NCIT:C2859|EFO:0003850|ONCOTREE:ADRENALGLAND owl:Class GO:1901227 biolink:NamedThing negative regulation of transcription from RNA polymerase II promoter involved in heart development Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development. tmpte7i6ely_mondo_relaxed.owl down-regulation of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in heart development|inhibition of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of global transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in cardiac development|down regulation of global transcription from RNA polymerase II promoter involved in heart development|inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|inhibition of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of global transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from Pol II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in heart development owl:Class GO:0000122 biolink:NamedThing negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpte7i6ely_mondo_relaxed.owl down-regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|down regulation of global transcription from RNA polymerase II promoter|inhibition of global transcription from RNA polymerase II promoter|inhibition of transcription from RNA polymerase II promoter|down-regulation of global transcription from RNA polymerase II promoter|downregulation of transcription from RNA polymerase II promoter|negative regulation of global transcription from Pol II promoter|downregulation of global transcription from RNA polymerase II promoter|down regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, global|negative regulation of transcription from Pol II promoter|negative regulation of gene-specific transcription from RNA polymerase II promoter owl:Class MONDO:0003405 biolink:NamedThing adult central nervous system germ cell tumor A germ cell tumor of the central nervous system occurring in adults. tmpte7i6ely_mondo_relaxed.owl germ cell neoplasm of adult central nervous system|central nervous system germ cell tumor of adults|central nervous system germ cell tumor|germ cell tumor of adult central nervous system|central nervous system adult germ cell tumor|germ cell tumor of the adult CNS|germ cell neoplasm of the adult central nervous system|germ cell tumor of adult CNS|germ cell tumor of the adult central nervous system|adult CNS germ cell neoplasm|adult central nervous system germ cell neoplasm|germ cell neoplasm of adult CNS|germ cell neoplasm of the adult CNS|adult CNS germ cell tumor|adult central nervous system germ cell tumor DOID:5349|UMLS:C0280796|NCIT:C6285 owl:Class MONDO:0003000 biolink:NamedThing central nervous system germ cell tumor A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. tmpte7i6ely_mondo_relaxed.owl germ cell neoplasm of central nervous system|germ cell tumor of the CNS|central nervous system rare germ cell tumor|germ cell neoplasm of the CNS|CNS germ cell tumor|germ cell neoplasm of the central nervous system|CNS germ cell neoplasm|germ cell tumor of CNS|germ cell tumor of central nervous system|germ cell tumor of the central nervous system|central nervous system germ cell neoplasm|germ cell neoplasm of CNS|central nervous system germ cell tumor DOID:4439|UMLS:C1332880|NCIT:C5461 owl:Class MONDO:0017870 biolink:NamedThing supravalvular pulmonary stenosis tmpte7i6ely_mondo_relaxed.owl pulmonary supravalvular stenosis ICD10:Q25.6|Orphanet:3192|GARD:0004594 https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis owl:Class MONDO:0017865 biolink:NamedThing congenital pulmonary valve stenosis Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS). tmpte7i6ely_mondo_relaxed.owl heart valve pulmonary stenosis|valvar pulmonary stenosis|valvate pulmonary stenosis|valvular pulmonary stenosis GARD:0004596|ICD10:Q22.1|Orphanet:3189|OMIM:265500|MedDRA:10037451 owl:Class MONDO:0017973 biolink:NamedThing non-classic congenital lipoid adrenal hyperplasia due to STAR deficency tmpte7i6ely_mondo_relaxed.owl ICD10:E25.0|Orphanet:325529 owl:Class MONDO:0008725 biolink:NamedThing congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. tmpte7i6ely_mondo_relaxed.owl LCAH|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|adrenal hyperplasia 1|lipoid congenital adrenal hyperplasia|congenital adrenal hyperplasia lipoid|CLAH SCTID:44231009|Orphanet:418|GARD:0001465|OMIM:201710|UMLS:C0342474|ICD10:E25.0|Orphanet:90790 owl:Class MONDO:0009415 biolink:NamedThing hypoglycemia, leucine-induced tmpte7i6ely_mondo_relaxed.owl hypoglycemia leucine-induced|hypoglycemia, leucine-induced|LIH|leucine-sensitive hypoglycemia of infancy|familial infantile hypoglycemia precipitated by leucine|hypoglycemia leucine induced SCTID:62151007|OMIM:240800|EFO:0006856|MESH:C537150|GARD:0009915|UMLS:C0271714 owl:Class MONDO:0030843 biolink:NamedThing mismatch repair cancer syndrome 4 tmpte7i6ely_mondo_relaxed.owl MMRCS4|mismatch repair cancer syndrome 4 OMIM:619101 owl:Class MONDO:0031219 biolink:NamedThing mismatch repair cancer syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:276300 owl:Class HsapDv:0000085 biolink:NamedThing 6-12 year-old child stage Child stage that refers to a child who is over 6 and under 13 years old. tmpte7i6ely_mondo_relaxed.owl prepubescent owl:Class MONDO:0011638 biolink:NamedThing neuroferritinopathy Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits. tmpte7i6ely_mondo_relaxed.owl Neuroferritinopathy; basal ganglia disease, adult-onset|basal ganglia disease, adult-onset|NBIA3|neuroferritinopathy|basal ganglia disease adult-onset|neurodegeneration with brain iron accumulation 3|neurodegeneration with brain iron accumulation type 3|ferritin-related neurodegeneration|adult basal ganglia disease|hereditary ferritinopathy GARD:0010686|SCTID:699299001|DOID:0110737|Orphanet:157846|ICD10:G23.0|OMIM:606159|UMLS:C1853578|MESH:C548080|ICD9:333.0 Editor note: consider relation to basal ganglia owl:Class MONDO:0000209 biolink:NamedThing prenatal-onset spinal muscular atrophy with congenital bone fractures tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy with congenital bone fractures|SMABF OMIM:616867|Orphanet:486811|OMIM:616866|UMLS:CN238807|OMIMPS:616866 owl:Class UBERON:0004345 biolink:NamedThing trophectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005292 biolink:NamedThing extraembryonic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012423 biolink:NamedThing MORM syndrome MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. tmpte7i6ely_mondo_relaxed.owl intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy and micropenis|MORMS|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|MORM syndrome|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy and micropenis UMLS:C1857802|GARD:0010121|SCTID:715628009|Orphanet:75858|MESH:C536984|OMIM:610156 https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome owl:Class GO:2000678 biolink:NamedThing negative regulation of transcription regulatory region DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010688 biolink:NamedThing hereditary sensory neuropathy X-linked A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary sensory, X-linked MESH:C564090|UMLS:C1839602|OMIM:310470|DOID:0070159 owl:Class MONDO:0017182 biolink:NamedThing familial hyperinsulinism An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl congenital hyperinsulinism|FHI|hyperinsulinemia of infancy|HHI|hereditary hyperinsulinism (disease)|familial hyperinsulinemic hypoglycemia|Neonatal hyperinsulinism|Nesidioblastosis|hyperinsulinemic hypoglycemia ICD10:E16.1|NCIT:C131425|Orphanet:276525 owl:Class MONDO:0002177 biolink:NamedThing hyperinsulinism Abnormally high levels of insulin in the blood. tmpte7i6ely_mondo_relaxed.owl hyperinsulinism|hyperinsulinism (disease)|hyperinsulinemia hyperinsulinism (disease) UMLS:C0020459|SCTID:83469008|HP:0000842|DOID:2018|MESH:D006946|NCIT:C113104|ICD10:E16.1|ICD9:251.1 owl:Class MONDO:0030966 biolink:NamedThing neurofacioskeletal syndrome with or without renal agenesis tmpte7i6ely_mondo_relaxed.owl NFSRA|Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis OMIM:619194 owl:Class MONDO:0001093 biolink:NamedThing colonic lymphangioma A lymphangioma arising from the colon. tmpte7i6ely_mondo_relaxed.owl lymphangioma of colon|lymphangioma of the colon|colonic lymphangioma|colon lymphangioma UMLS:C1333094|DOID:10657|NCIT:C5500 owl:Class MONDO:0002278 biolink:NamedThing benign colon neoplasm A non-metastasizing neoplasm arising from the wall of the colon. tmpte7i6ely_mondo_relaxed.owl benign tumor of colon|colonic Mass|colon neoplasm|benign colon tumor|benign colonic tumor|benign colonic neoplasm|colonic benign neoplasm|benign neoplasm of colon|benign tumor of the colon|colonic tumor|colon benign neoplasm|benign neoplasm of the colon|benign colon neoplasm DOID:235|UMLS:C0009375|UMLS:C0004991|SCTID:92065004|NCIT:C2894|NCIT:C2953|ICD9:211.3|MESH:D003110 MONDO:0021466 owl:Class CL:0000381 biolink:NamedThing neurosecretory neuron tmpte7i6ely_mondo_relaxed.owl FBbt:00005130 cell owl:Class CL:0000527 biolink:NamedThing efferent neuron A neuron which sends impulses peripherally to activate muscles or secretory cells. tmpte7i6ely_mondo_relaxed.owl output neuron cell owl:Class GO:2000872 biolink:NamedThing positive regulation of progesterone secretion Any process that activates or increases the frequency, rate or extent of progesterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000196 biolink:NamedThing positive regulation of female gonad development Any process that activates or increases the frequency, rate or extent of female gonad development. tmpte7i6ely_mondo_relaxed.owl positive regulation of ovarian development|positive regulation of ovary development owl:Class MONDO:0006029 biolink:NamedThing cecum carcinoma A carcinoma that arises from epithelial cells of the caecum tmpte7i6ely_mondo_relaxed.owl cecum carcinoma|caecum carcinoma|carcinoma of the cecum|cecal cancer|carcinoma of caecum|cecum cancer|carcinoma of cecum UMLS:C0149640|EFO:1000021|DOID:1519|NCIT:C3491|SCTID:255081007 owl:Class MONDO:0009461 biolink:NamedThing male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). tmpte7i6ely_mondo_relaxed.owl macrozoospermia|spermatogenic failure type 5|SPGF5|Male infertility due to macrozoospermia|infertility associated with Multitailed spermatozoa and excessive DNA|macrocephalic sperm head syndrome|Male infertility with large-headed, multiflagellar, polyploid spermatozoa|spermatogenic failure 5|infertility associated with multi-tailed spermatozoa and excessive DNA GARD:0012385|ICD10:N46|SCTID:236806004|Orphanet:137893|UMLS:C0403812|DOID:0070183|MESH:C562903|Orphanet:399808|OMIM:243060 owl:Class HGNC:5320 biolink:NamedThing HYAL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005112 biolink:NamedThing malignant pleural mesothelioma A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive. tmpte7i6ely_mondo_relaxed.owl pleural diffuse malignant mesothelioma|malignant mesothelioma of pleura|malignant pleural mesothelioma|pleura mesothelioma|pleural malignant mesothelioma|malignant mesothelioma of the pleura SCTID:254645002|EFO:0000770|UMLS:C0812413|NCIT:C7376|ICD10:C45.0|DOID:7474 owl:Class MONDO:0003308 biolink:NamedThing pleural mesothelioma A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath. tmpte7i6ely_mondo_relaxed.owl pleural mesothelioma|mesothelioma of the pleura|pleural mesothelioma (disease), benign|pleura mesothelioma|mesothelioma of pleura|benign pleural mesothelioma|pleural mesothelioma (disease) DOID:5157|HP:0100002|SCTID:109372009|ONCOTREE:PLMESO|EFO:1000485|NCIT:C9351 owl:Class MONDO:0001832 biolink:NamedThing bacterial esophagitis An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. tmpte7i6ely_mondo_relaxed.owl bacterial esophagitis UMLS:C0341108|SCTID:235601001|NCIT:C27106|DOID:13921 owl:Class MONDO:0030260 biolink:NamedThing pontocerebellar hypoplasia, type 1E tmpte7i6ely_mondo_relaxed.owl PCH1E|pontocerebellar hypoplasia, type 1E OMIM:619303 owl:Class UBERON:0003849 biolink:NamedThing mesencephalic neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002342 biolink:NamedThing neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002776 biolink:NamedThing external ear disorder A disease involving the external ear. tmpte7i6ely_mondo_relaxed.owl disease or disorder of external ear|preauricular sinus and fistula (disorder)|disorder of external ear|external ear disease|preauricular cyst|external ear disease or disorder|preauricular cyst (disorder)|preauricular sinus or fistula NOS (disorder)|disease of external ear|external ear disorder|preauricular sinus or fistula|preauricular sinus and fistula UMLS:C0155388|ICD10:H61.9|ICD9:380|SCTID:49130001|ICD10:H60.H62|ICD10:H60-H62|NCIT:C26972|ICD9:380.9|DOID:379|ICD9:744.47 owl:Class MONDO:0021205 biolink:NamedThing disorder of ear A disease that involves the ear. tmpte7i6ely_mondo_relaxed.owl disease or disorder of ear|disorder of ear|ear disease|ear disease or disorder|Ear disorder|Ear disease|disease of ear ICD9:388.8|UMLS:C0013447|SCTID:25906001|NCIT:C26757|ICD9:388.9 owl:Class MONDO:0011903 biolink:NamedThing Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. tmpte7i6ely_mondo_relaxed.owl Charcot Marie Tooth disease type 2J|Charcot-Marie-Tooth neuropathy, type 2J|autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth neuropathy type 2J|CMT2J|CMT 2J|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth disease, axonal, type 2J|Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities MESH:C535417|OMIM:607736|DOID:0110157|ICD10:G60.0|Orphanet:99943|SCTID:717014003|GARD:0009198 https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j owl:Class MONDO:0015384 biolink:NamedThing digestive duplication cyst of the tongue Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. tmpte7i6ely_mondo_relaxed.owl gastric duplication cyst of the tongue|enteric duplication cyst of the tongue|cysts and fistulae of the face and oral cavity of tongue|tongue cysts and fistulae of the face and oral cavity|foregut duplication cyst of the tongue ICD10:Q38.3|Orphanet:141071 owl:Class MONDO:0001165 biolink:NamedThing tongue disorder A disease involving the tongue. tmpte7i6ely_mondo_relaxed.owl disease or disorder of tongue|tongue disease or disorder|tongue disease|disorder of tongue|disease of tongue ICD9:529.9|SCTID:69244009|ICD10:K14|ICD10:K14.9|DOID:10944|MESH:D014060|ICD9:529.8|UMLS:C0040409 owl:Class GO:0045275 biolink:NamedThing respiratory chain complex III A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species. tmpte7i6ely_mondo_relaxed.owl complex III|cytochrome bc(1) complex|CoQH2-cytochrome c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|electron transport complex III|coenzyme Q-cytochrome c oxidoreductase complex|coenzyme Q-cytochrome c reductase complex|cytochrome bc1 complex|ubiquinol-cytochrome-c reductase complex owl:Class GO:0098803 biolink:NamedThing respiratory chain complex Any protein complex that is part of a respiratory chain. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009856 biolink:NamedThing sac tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018560 biolink:NamedThing anterior urethral valve tmpte7i6ely_mondo_relaxed.owl ICD10:Q64.7|Orphanet:435372|UMLS:CN242188|SCTID:253907008 Editor note: consider obsoleting as represents a finding owl:Class MONDO:0018559 biolink:NamedThing fetal lower urinary tract obstruction tmpte7i6ely_mondo_relaxed.owl LUTO UMLS:C4305545|Orphanet:435365|SCTID:717752005 owl:Class MONDO:0044631 biolink:NamedThing early-onset familial noncirrhotic portal hypertension tmpte7i6ely_mondo_relaxed.owl Orphanet:494348 owl:Class GO:1902020 biolink:NamedThing negative regulation of cilium-dependent cell motility Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility. tmpte7i6ely_mondo_relaxed.owl inhibition of ciliary cell motility|downregulation of ciliary cell motility|down-regulation of ciliary cell motility|negative regulation of cilium cell motility|down regulation of ciliary cell motility|negative regulation of ciliary cell motility owl:Class MONDO:0014474 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2U Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2U|muscular dystrophy limb-girdle type 2U|muscular dystrophy-dystroglycanopathy (limb-girdle) type C7|MDDGC7|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency|LGMD2U|ISPD autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD OMIM:616052|ICD10:G71.0|UMLS:C4015095|DOID:0110295|Orphanet:352479 owl:Class MONDO:0017745 biolink:NamedThing disorder of O-mannosylglycan synthesis tmpte7i6ely_mondo_relaxed.owl Orphanet:309469|ICD10:E77.8|UMLS:CN227192 owl:Class GO:0032885 biolink:NamedThing regulation of polysaccharide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032881 biolink:NamedThing regulation of polysaccharide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003315 biolink:NamedThing endometrium carcinoma in situ A carcinoma in situ involving a endometrium. tmpte7i6ely_mondo_relaxed.owl endometrial carcinoma in situ|carcinoma in situ of endometrium|stage 0 endometrium carcinoma|endometrium in situ carcinoma ICD9:233.2|ICD10:D07.0|SCTID:92582009|UMLS:C0346191|DOID:5172 owl:Class CL:0000353 biolink:NamedThing blastoderm cell An undifferentiated cell produced by early cleavages of the fertilized egg (zygote). tmpte7i6ely_mondo_relaxed.owl blastomere FMA:72551|BTO:0001473 cell owl:Class CL:0000007 biolink:NamedThing early embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0009733 biolink:NamedThing nephrotic syndrome, type 4 Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. tmpte7i6ely_mondo_relaxed.owl DMS|isolated diffuse mesangial sclerosis|NPHS4|familial mesangial sclerosis|nephrotic syndrome, early onset with diffuse mesangial sclerosis|diffuse mesangial sclerosis|mesangial sclerosis, diffuse|nephrotic syndrome, type 4|congenital nephrotic syndrome - diffuse mesangial sclerosis|nephrotic syndrome caused by mutation in WT1|WT1 nephrotic syndrome|diffuse isolated mesangial sclerosis OMIM:256370|GARD:0003547|DOID:0080383|NCIT:C121198 owl:Class HP:0001249 biolink:NamedThing Intellectual disability Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. tmpte7i6ely_mondo_relaxed.owl Poor school performance|Mental retardation|Intellectual disability|Nonprogressive intellectual disability|Mental deficiency|Mental-retardation|Dull intelligence|Nonprogressive mental retardation|Mental retardation, nonspecific|Low intelligence MSH:D008607|UMLS:C3714756|SNOMEDCT_US:228156007|UMLS:C0025362|UMLS:C4020876|UMLS:C0917816|UMLS:C0423903|SNOMEDCT_US:247578003|UMLS:C1843367|SNOMEDCT_US:91138005 This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). HP:0007180|HP:0002458|HP:0002382|HP:0000730|HP:0002386|HP:0006877|HP:0001286|HP:0002543|HP:0003767|HP:0002482|HP:0006833|HP:0002122|HP:0002402|HP:0007154|HP:0001267|HP:0002499|HP:0002192|HP:0007176|HP:0002316 human_phenotype owl:Class HP:0011446 biolink:NamedThing Abnormality of higher mental function Cognitive, psychiatric or memory anomaly. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023352 peter 2012-03-18T04:23:59Z human_phenotype owl:Class MONDO:0013772 biolink:NamedThing congenital cataract-hearing loss-severe developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl lethal neurodegenerative disorder due to copper transport defect|congenital cataracts, hearing loss, and neurodegeneration|congenital cataract-deafness-severe developmental delay syndrome|CCHLND OMIM:614482|UMLS:C3280965|Orphanet:300313 owl:Class UBERON:0001485 biolink:NamedThing knee joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020249 biolink:NamedThing hereditary optic neuropathy tmpte7i6ely_mondo_relaxed.owl MedDRA:10061323|Orphanet:98671 owl:Class MONDO:0016935 biolink:NamedThing partial duplication of chromosome 17 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 17|partial duplication of chromosome type 17 SCTID:726356000|UMLS:C4518505|Orphanet:262677 owl:Class MONDO:0020583 biolink:NamedThing chromosome 17 disorder Chromosomal disorder in which chromosome 17 is affected. tmpte7i6ely_mondo_relaxed.owl chromosome 17 abnormality NCIT:C129438 owl:Class MONDO:0006027 biolink:NamedThing breast synovial sarcoma A synovial sarcoma (disease) that involves the breast. tmpte7i6ely_mondo_relaxed.owl breast synovial sarcoma (disease) EFO:1000019 owl:Class MONDO:0010434 biolink:NamedThing synovial sarcoma Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name). tmpte7i6ely_mondo_relaxed.owl SS|synovial sarcoma (disease)|sarcoma, synovial, malignant|sarcoma, synovial|Synovialosarcoma|synovial sarcoma synovial sarcoma (disease) MESH:D013584|UMLS:C0039101|ICDO:9040/3|ICD10:C49.9|OMIM:300813|NCIT:C3400|GARD:0007721|DOID:5485|EFO:0001376|Orphanet:3273|MedDRA:10042863|ICD9:171.9|ONCOTREE:SYNS|SCTID:302851001|HP:0012570 owl:Class GO:0051726 biolink:NamedThing regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle. tmpte7i6ely_mondo_relaxed.owl regulation of cell cycle progression|regulation of progression through cell cycle|tumor suppressor|positive regulation of cell cycle arrest|regulation of cell cycle arrest|mitotic cell cycle arrest|negative regulation of cell cycle arrest|cell cycle regulation|cell cycle regulator|arrest of mitotic cell cycle progression|cell cycle arrest|modulation of cell cycle progression|cell cycle modulation|control of cell cycle progression owl:Class MONDO:0018960 biolink:NamedThing congenital primary megaureter Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. tmpte7i6ely_mondo_relaxed.owl congenital megalo-ureter|congenital giant megaureter|CGM|congenital primary megalo-ureter GARD:0000219|SCTID:717459000|Orphanet:617|GARD:0001492|ICD10:Q62.2 https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter|https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter owl:Class MONDO:0019720 biolink:NamedThing non-syndromic renal or urinary tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated renal or urinary tract malformation|nonsyndromic renal or urinary tract malformation|nonsyndromic congenital anomaly of kidney and urinary tract|isolated congenital anomaly of kidney and urinary tract Orphanet:93546 owl:Class MONDO:0008283 biolink:NamedThing Cronkhite-Canada syndrome Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. tmpte7i6ely_mondo_relaxed.owl polyposis skin pigmentation alopecia fingernail changes|gastrointestinal polyposis-ectodermal changes syndrome|gastric Cronkhite Canada polyposis|Cronkhite-Canada disease|gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|polyposis, skin pigmentation, alopecia, and fingernail changes|Cronkhite-Canada syndrome ICD10:D12.6|MedDRA:10062907|GARD:0004427|DOID:6225|NCIT:C7035|OMIM:175500|SCTID:76304001|MESH:D044483|Orphanet:2930|UMLS:C0282207 https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease owl:Class MONDO:0001538 biolink:NamedThing retinal ischemia A ischemic disease that involves the retina. tmpte7i6ely_mondo_relaxed.owl retina ischemic disease|ischemic disease of retina ICD9:362.84|ICD10:H35.82|SCTID:26468004|DOID:12510|UMLS:C0162291 owl:Class MONDO:0005283 biolink:NamedThing retinal disorder Any disease or disorder of the retina. tmpte7i6ely_mondo_relaxed.owl eye disease of retina|retina eye disease|retinopathy MESH:D012164|UMLS:C0035309|ICD9:362.9|SCTID:29555009|DOID:5679|ICD10:H35.9|EFO:0003839|ICD9:362.89|NCIT:C62601|HGNC:8002 owl:Class MONDO:0002279 biolink:NamedThing iron metabolism disease Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) tmpte7i6ely_mondo_relaxed.owl metabolism disorder, iron|iron metabolism disorder|iron disorder|metabolism disorders, iron|disorders, iron metabolism|disorder of iron metabolism|disorder, iron metabolism UMLS:C0012715|ICD10:E83.1|DOID:2351|ICD9:275.0|MESH:D019189|SCTID:30913008|ICD10:E83.10 Editor note: DOID refers to acquired version, consider new class owl:Class UBERON:0002916 biolink:NamedThing central sulcus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013118 biolink:NamedThing sulcus of brain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003494 biolink:NamedThing respiratory system venule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001979 biolink:NamedThing venule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016203 biolink:NamedThing hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:209902|ICD10:E78.0 owl:Class MONDO:0005439 biolink:NamedThing familial hypercholesterolemia An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. tmpte7i6ely_mondo_relaxed.owl Fredrickson type IIa lipidaemia|type II hyperlipidemia|hyperbetalipoproteinemia|Fredrickson type IIa hyperlipoproteinemia|familial hyperbetalipoproteinaemia|familial hypercholesteremia|hyperlipoproteinemia type II ICD10:E78.0|OMIM:143890|UMLS:CN118841|SCTID:398036000|SCTID:190773008|ICD9:V19.8|OMIMPS:143890|DOID:13810|NCIT:C34704|OMIM:144010|OMIM:603776|EFO:0004911 Editor note: TODO check xrefs owl:Class MONDO:0006360 biolink:NamedThing penile carcinoma A carcinoma that arises from epithelial cells of the penis tmpte7i6ely_mondo_relaxed.owl carcinoma of penis|cancer of penis|carcinoma of the penis|penis carcinoma|penile cancer|penile carcinoma|penile cancer, adult|cancer of the penis|cancer penis GARD:0009366|DOID:3449|EFO:1000465|SCTID:372106005|NCIT:C9061 owl:Class MONDO:0001325 biolink:NamedThing penile cancer A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant penile tumor|penis cancer|cancer of penis|malignant neoplasm of the penis|penile Ca|penile cancer|malignant penis neoplasm|malignant tumor of the penis|malignant tumor of penis|malignant neoplasm of penis|Ca penis|malignant neoplasm of body of penis|malignant penile neoplasm|penile neoplasm UMLS:CN226091|DOID:11615|ICD10:C60.2|Orphanet:398043|ICD10:C60|ICD10:C60.9|ICD10:C60.1|ICD9:187.3|ICD10:C60.0|ICD10:C60.8|SCTID:363516004|MESH:D010412|NCIT:C7547|ICD9:187.4 owl:Class MONDO:0025089 biolink:NamedThing infectious bovine rhinotracheitis A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract. tmpte7i6ely_mondo_relaxed.owl bovine Rhinotracheitides, infectious|Rhinotracheitides, infectious bovine|infectious bovine Rhinotracheitides|bovine Rhinotracheitis, infectious|Rhinotracheitis, infectious bovine UMLS:C0021334|MESH:D007241 owl:Class MONDO:0005794 biolink:NamedThing Herpesviridae infectious disease Virus diseases caused by the herpesviridae. tmpte7i6ely_mondo_relaxed.owl infections, Herpesviridae|Herpesviridae infections|infections, Herpesvirus|Herpesviridae disease or disorder|Herpesvirus infection|Herpesvirus infections|herpes infection|Herpesviridae infection|Herpesviridae caused disease or disorder|infection, Herpesvirus|infection, Herpesviridae|herpesvirus infection EFO:0007309|MESH:D006566|SCTID:23513009 owl:Class MONDO:0004005 biolink:NamedThing rete ovarii adenoma An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign. tmpte7i6ely_mondo_relaxed.owl rete ovarii adenoma|adenoma, rete ovarii, benign NCIT:C40018|UMLS:C1514905|DOID:6837 owl:Class HGNC:4699 biolink:NamedThing GYG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018657 biolink:NamedThing pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome tmpte7i6ely_mondo_relaxed.owl CAPOK|CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA UMLS:CN237716|Orphanet:447961|OMIM:618373 owl:Class MONDO:0017666 biolink:NamedThing diffuse palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl diffuse keratosis palmoplantaris|diffuse palmoplantar hyperkeratosis|diffuse PPK HP:0007435|UMLS:C0022584|Orphanet:307141|ICD9:757.39|ICD10:Q82.8|SCTID:400123002 owl:Class GO:0048477 biolink:NamedThing oogenesis The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster. tmpte7i6ely_mondo_relaxed.owl ovum development owl:Class GO:0007292 biolink:NamedThing female gamete generation Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004336 biolink:NamedThing proximal phalanx of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003868 biolink:NamedThing proximal phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000941 biolink:NamedThing thymic conventional dendritic cell A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative. tmpte7i6ely_mondo_relaxed.owl In the mouse this cell expresses CD8-alpha-alpha. cell owl:Class CL:0000990 biolink:NamedThing conventional dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. tmpte7i6ely_mondo_relaxed.owl DC1|interdigitating cell|dendritic reticular cell|veiled cell|type 1 DC|cDC FMA:84191 Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. cell owl:Class MONDO:0004187 biolink:NamedThing nodular fasciitis A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl nodular fasciitis|pseudosarcomatous fasciitis|pseudosarcomatous fibromatosis|fasciitis - nodular DOID:7327|UMLS:C0410005|ICD10:M72.4|Orphanet:477742|ICD9:728.79|SCTID:400138001|NCIT:C3827 owl:Class MONDO:0019296 biolink:NamedThing subcutaneous tissue disorder A disease involving the superficial fascia. tmpte7i6ely_mondo_relaxed.owl superficial fascia disease|superficial fascia disease or disorder|disease of superficial fascia|disease or disorder of superficial fascia|disorder of superficial fascia UMLS:C1290008|Orphanet:79382 owl:Class MONDO:0024314 biolink:NamedThing parasitemia The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl Parasitemias UMLS:C0242723|MESH:D018512 owl:Class MONDO:0005570 biolink:NamedThing hematologic disorder A disease involving the hematopoietic system. tmpte7i6ely_mondo_relaxed.owl hematologic and lymphocytic disorder|hematologic disorder|hematopoietic disease|disease or disorder of hematopoietic system|hematological disorder|disease of the blood and blood-forming organs|hematological disorders and malignancies|hematopoietic system disease or disorder|blood dyscrasia|disorder of hematopoietic system|rare hematologic disease|hematopoietic system disease|blood disorder|hematological system disease|hematological disease|blood disease|disease of hematopoietic system DOID:74|GTR:AN1320635|UMLS:CN206939|ICD9:289.8|ICD9:280-289.99|SCTID:414022008|ICD9:289.9|MESH:D006402|NCIT:C26323|EFO:0005803|Orphanet:97992|ICD10:D75.9|UMLS:CN882913|UMLS:C0018939 placeholder for lymphoid disease https://github.com/monarch-initiative/mondo/issues/254 owl:Class HP:0000022 biolink:NamedThing Abnormality of male internal genitalia An abnormality of the male internal genitalia. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025899 The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. human_phenotype owl:Class HP:0000812 biolink:NamedThing Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). tmpte7i6ely_mondo_relaxed.owl Abnormal internal genitalia UMLS:C4025824 human_phenotype owl:Class GO:0034249 biolink:NamedThing negative regulation of cellular amide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpte7i6ely_mondo_relaxed.owl negative regulation of amide metabolism owl:Class ECTO:0001108 biolink:NamedThing exposure to aflatoxin An exposure to aflatoxin. tmpte7i6ely_mondo_relaxed.owl exposure to aflatoxin owl:Class ECTO:0000371 biolink:NamedThing exposure to oxygen molecular entity An exposure to oxygen molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to oxygen molecular entity owl:Class CHEBI:26743 biolink:NamedThing sphing-4-enine A sphingenine in which the C=C double bond is located at the 4-position. tmpte7i6ely_mondo_relaxed.owl (2S,3R)-2-aminooctadec-4-ene-1,3-diol|4-sphingenine|sphing-4-enine owl:Class CHEBI:46964 biolink:NamedThing 2-aminooctadec-4-ene-1,3-diol A 2-aminooctadecene-1,3-diol having its double bond at position 4. tmpte7i6ely_mondo_relaxed.owl 2-aminooctadec-4-ene-1,3-diol|2-aminooctadec-4-ene-1,3-diols owl:Class MONDO:0001522 biolink:NamedThing pyromania A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting. tmpte7i6ely_mondo_relaxed.owl firesetting behavior|pathological firesetting DOID:12402|ICD9:312.33|SCTID:600009|NCIT:C94334|MESH:D005391|ICD10:F63.1 owl:Class MONDO:0001162 biolink:NamedThing impulse control disorder A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. tmpte7i6ely_mondo_relaxed.owl ICD|impulse-control disorder ICD9:312.30|NCIT:C34723|ICD9:312.39|SCTID:66347000|DOID:10937|ICD10:F63.9 owl:Class UBERON:0009015 biolink:NamedThing upper back skin tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001068 biolink:NamedThing skin of back tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011300 biolink:NamedThing gray matter of telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17382 biolink:NamedThing SRGAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2591 biolink:NamedThing CYP11B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011220 biolink:NamedThing parkinson disease 3, autosomal dominant tmpte7i6ely_mondo_relaxed.owl Parkinson disease type 3|Parkinson disease 3, autosomal dominant|PARK3|autosomal dominant Parkinson disease|Parkinson disease 3, autosomal dominant Lewy body OMIM:602404|UMLS:C1865581|GARD:0008578|DOID:0111250|MESH:C566552|Orphanet:2828 owl:Class MONDO:0016820 biolink:NamedThing Moyamoya disease Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. tmpte7i6ely_mondo_relaxed.owl Moyamoya disease, secondary|progressive intracranial arterial occlusion|idiopathic Moyamoya disease|Moyamoya disease, primary|MYMY SCTID:89142007|UMLS:C0026654|OMIM:614042|ICD9:437.5|OMIM:607151|OMIM:608796|Orphanet:280679|NCIT:C84895|Orphanet:401945|OMIMPS:252350|GARD:0007064|Orphanet:2573|SCTID:69116000|MESH:D009072|OMIM:615750|OMIM:252350|MedDRA:10028047|DOID:13099|OMIM:300845|ICD10:I67.5 owl:Class MONDO:0006693 biolink:NamedThing cerebral arterial disease Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery. tmpte7i6ely_mondo_relaxed.owl MESH:D002539|EFO:1000859|UMLS:C0007774|DOID:3527 owl:Class CHEBI:26167 biolink:NamedThing polar amino acid Any amino acid whose side chain is capable of forming one or more hydrogen bonds. tmpte7i6ely_mondo_relaxed.owl polar amino acid|polar amino acids|polar amino-acid|polar amino-acids owl:Class CHEBI:33709 biolink:NamedThing amino acid A carboxylic acid containing one or more amino groups. tmpte7i6ely_mondo_relaxed.owl Aminosaeure|amino acids|Aminokarbonsaeure|Aminocarbonsaeure owl:Class UBERON:0001519 biolink:NamedThing skin of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042484 biolink:NamedThing disseminated sporotrichosis tmpte7i6ely_mondo_relaxed.owl disseminated sporotrichosis SCTID:91051003|UMLS:C0276725 owl:Class MONDO:0005968 biolink:NamedThing sporotrichosis The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. tmpte7i6ely_mondo_relaxed.owl rose gardener's disease ICD10:B42.9|GARD:0007692|MedDRA:10041736|ICD10:B42.8|UMLS:C0038034|Orphanet:826|ICD9:117.1|ICD10:B42.1|DOID:14484|ICD10:B42|SCTID:42094007|ICD10:B42.0|MESH:D013174|ICD10:B42.7|EFO:0007494 https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis owl:Class PATO:0001690 biolink:NamedThing contractile A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001579 biolink:NamedThing contractility A physical quality that is the ability to contract or shrink. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8800 biolink:NamedThing PDGFB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032784 biolink:NamedThing neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS|NEDNEH OMIM:618497 owl:Class UBERON:0006063 biolink:NamedThing cartilaginous neural arch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010358 biolink:NamedThing arch of centrum of vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019258 biolink:NamedThing white matter of hindbrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003544 biolink:NamedThing brain white matter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001500 biolink:NamedThing muscle of manus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031946 biolink:NamedThing regulation of glucocorticoid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005586 biolink:NamedThing head and neck neoplasm A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpte7i6ely_mondo_relaxed.owl tumor of craniocervical region|craniocervical region neoplasm|craniocervical region tumor|head and neck neoplasm|head and neck neoplasm (excluding central nervous system)|craniocervical region neoplasm (disease)|head and neck tumor|tumor of the head and neck|neoplasm of head and neck|tumor of head and neck|neoplasm of the head and neck|neoplasm of craniocervical region ONCOTREE:HEADNECK|EFO:0005950|UMLS:C0018671|ICD9:239.89|SCTID:255055008|NCIT:C3077 owl:Class MONDO:0003191 biolink:NamedThing rete ovarii adenocarcinoma An exceptionally rare adenocarcinoma that arises from the rete ovarii. tmpte7i6ely_mondo_relaxed.owl rete ovarii adenocarcinoma DOID:4894|NCIT:C40017|UMLS:C3840223 owl:Class MONDO:0021054 biolink:NamedThing bone sarcoma A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. tmpte7i6ely_mondo_relaxed.owl skeletal sarcoma|osseous sarcoma|sarcoma of the bone|sarcoma of bone|bone sarcoma Orphanet:223727|MedDRA:10006007|DOID:0080639|ICD9:170.9|SCTID:448710000|UMLS:C1704327|NCIT:C9312 owl:Class MONDO:0002129 biolink:NamedThing bone cancer A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. tmpte7i6ely_mondo_relaxed.owl malignant tumor of bone|malignant bone neoplasm|malignant tumor of the bone|malignant osseous neoplasm|malignant bone tumour|malignant neoplasm of skeletal element|cancer of bone|osseous cancer|bone tumour|malignant neoplasm of bone|bone neoplasm|cancer of skeletal element|malignant neoplasm of the bone|skeletal element cancer|osseous tumor|malignant skeletal element neoplasm|malignant osseous tumor|cancer of the bone|malignant bone tumor|bone cancer|CA - bone cancer DOID:184|SCTID:428281000|ICD9:170.9|CSP:2019-1041|NCIT:C4016|NCIT:C9343|MESH:D001859 owl:Class MONDO:0018893 biolink:NamedThing Cobb syndrome Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. tmpte7i6ely_mondo_relaxed.owl Cobb's syndrome|spinal arteriovenous metameric syndrome|SAMS 1-31|cutaneomeningospinal angiomatosis ICD10:Q27.3|NCIT:C4485|GARD:0011892|UMLS:C0346068|ICD9:239.2|SCTID:254774003|Orphanet:53721|MedDRA:10068841 https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome owl:Class MONDO:0003110 biolink:NamedThing skin hemangioma A hemangioma arising from the skin. tmpte7i6ely_mondo_relaxed.owl skin angioma|zone of skin hemangioma|hemangioma of skin|hemangioma of zone of skin|hemangioma of the skin|angioma of skin|angiomatous naevus of skin|skin hemangioma|angioma of the skin SCTID:93471006|UMLS:C0687140|DOID:471|NCIT:C4905 owl:Class GO:0050908 biolink:NamedThing detection of light stimulus involved in visual perception The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl visual perception, sensory transduction of light stimulus|sensory detection of light during visual perception|visual perception, sensory transduction during perception of light|sensory detection of light stimulus during visual perception|visual perception, detection of light stimulus|sensory transduction of light stimulus during visual perception|sensory transduction of light during visual perception owl:Class GO:0009584 biolink:NamedThing detection of visible light The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. tmpte7i6ely_mondo_relaxed.owl perception of visible light owl:Class MONDO:0008641 biolink:NamedThing retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. tmpte7i6ely_mondo_relaxed.owl RVCL-S|ADRVCL|RVCL|autosomal dominant retinal vasculopathy with cerebral leukodystrophy|retinal vasculopathy and cerebral leukoencephalopathy|grand Kaine fulling syndrome|retinal vasculopathy with cerebral leukodystrophy|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|HVR|cerebroretinal vasculopathy|CRV|grand-Kaine-fulling syndrome|hereditary vascular retinopathy|cerebroretinal vasculopathy, hereditary|vasculopathy, retinal, with cerebral leukodystrophy SCTID:720854004|OMIM:192315|GARD:0002558|UMLS:C1860518|DOID:0111567|SCTID:721141004|MESH:C566007|GARD:0001217|Orphanet:247691|GARD:0010535 Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy|https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome|https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy owl:Class MONDO:0013482 biolink:NamedThing Meckel syndrome, type 8 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. tmpte7i6ely_mondo_relaxed.owl Meckel-Gruber syndrome, type 8|Meckel syndrome, type 8|MKS8|TCTN2 Meckel syndrome|Meckel syndrome 8|Meckel syndrome caused by mutation in TCTN2 ICD10:Q61.9|UMLS:C3836857|DOID:0070122|Orphanet:564|OMIM:613885 owl:Class MONDO:0018921 biolink:NamedThing Meckel syndrome A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. tmpte7i6ely_mondo_relaxed.owl Meckel-Gruber syndrome GARD:0003436|OMIM:249000|OMIM:611561|OMIMPS:249000|OMIM:613885|Orphanet:564|OMIM:607361|SCTID:29076005|DOID:0050778|OMIM:611134|OMIM:603194|OMIM:614209|ICD10:Q61.9|NCIT:C98978|OMIM:612284|OMIM:615397|ICD9:759.89|ICD9:753.10|OMIM:267010|ICD9:753.1|OMIM:614175|UMLS:C0265215 owl:Class MONDO:0011052 biolink:NamedThing amelia cleft lip palate hydrocephalus iris coloboma tmpte7i6ely_mondo_relaxed.owl amelia cleft lip palate hydrocephalus iris coloboma|bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects and facial clefts|brachial AMELIA, cleft LIP, and holoprosencephaly|brachial amelia, forebrain defects, and Facial clefts|ACLH GARD:0000641|UMLS:C1832434|OMIM:601357|GARD:0000388|MESH:C536713 https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma owl:Class UBERON:0004716 biolink:NamedThing conceptus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000061 biolink:NamedThing anatomical structure Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. tmpte7i6ely_mondo_relaxed.owl connected biological structure|biological structure owl:Class MONDO:0100033 biolink:NamedThing metabolic epilepsy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 18:55:00+00:00 owl:Class MONDO:0000545 biolink:NamedThing sublingual gland adenoid cystic carcinoma A adenoid cystic carcinoma that involves the sublingual gland. tmpte7i6ely_mondo_relaxed.owl sublingual gland adenoid cystic carcinoma DOID:0050930 owl:Class MONDO:0014587 biolink:NamedThing congenital myasthenic syndrome 9 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 9|congenital myasthenic syndrome caused by mutation in MUSK|MUSK congenital myasthenic syndrome|CMS9|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency DOID:0110670|Orphanet:590|UMLS:C4225368|OMIM:616325 owl:Class MONDO:0020344 biolink:NamedThing postsynaptic congenital myasthenic syndrome tmpte7i6ely_mondo_relaxed.owl postsynaptic congenital myasthenic syndromes OMIM:616324|OMIM:616314|OMIM:605809|OMIM:614198|OMIM:616323|OMIM:608930|ICD10:G70.2|OMIM:616304|OMIM:254300|OMIM:616313|OMIM:616325|OMIM:615120|Orphanet:98913|OMIM:601462|OMIM:616321|OMIM:616326|OMIM:616322|OMIM:616720|OMIM:608931 owl:Class MONDO:0011773 biolink:NamedThing anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. tmpte7i6ely_mondo_relaxed.owl anauxetic dysplasia|ANXD1|anauxetic dysplasia type 1|spondyloepimetaphyseal dysplasia, Menger type|anauxetic dysplasia 1|spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia Menger type|spondylometaepiphyseal dysplasia anauxetic type|spondylometaepiphyseal dysplasia, anauxetic type|spondyloepimetaphyseal dysplasia, anauxetic type Orphanet:93347|UMLS:CN029084|UMLS:C1846796|ICD10:Q77.7|OMIMPS:607095|MESH:C538256|DOID:0050640|GARD:0009657 Editor note: consider distinct subclass for type 1 owl:Class MONDO:0002882 biolink:NamedThing colon neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl neuroendocrine tumor of the colon|colonic neuroendocrine neoplasm|colon neuroendocrine tumor|neuroendocrine neoplasm of the colon|colon neuroendocrine neoplasm|colon NET|colonic neuroendocrine tumor|neuroendocrine neoplasm of colon|colon neuroendocrine tumor, well differentiated, low or intermediate grade UMLS:C1333097|Orphanet:100080|DOID:4118|NCIT:C5697 owl:Class MONDO:0005401 biolink:NamedThing colonic neoplasm A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpte7i6ely_mondo_relaxed.owl colonic tumor|colon neoplasm (disease)|neoplasm of colon|neoplasm of the colon|tumor of the colon|colon tumor|tumor of colon|colon neoplasm|colonic neoplasm NCIT:C2953|NCIT:C9242|EFO:0004288|MESH:D003110|UMLS:C0009375 owl:Class MONDO:0014659 biolink:NamedThing infantile liver failure syndrome 2 Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene. tmpte7i6ely_mondo_relaxed.owl ILFS2|infantile liver failure caused by mutation in NBAS|infantile liver failure syndrome type 2|infantile liver failure syndrome 2|NBAS infantile liver failure GARD:0013113|OMIM:616483|UMLS:CN232144 owl:Class MONDO:0000023 biolink:NamedThing infantile liver failure tmpte7i6ely_mondo_relaxed.owl infantile liver failure syndrome|fever-associated acute infantile liver failure syndrome|liver failure, infantile UMLS:CN228161|Orphanet:464724|OMIMPS:615438 OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). owl:Class UBERON:0004990 biolink:NamedThing mucosa of ascending colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013130 biolink:NamedThing isolated microphthalmia 4 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene. tmpte7i6ely_mondo_relaxed.owl isolated microphthalmia type 4|microphthalmia, isolated type 4|microphthalmia, isolated 4|isolated microphthalmia caused by mutation in GDF6|MCOP4|GDF6 isolated microphthalmia Orphanet:2542|DOID:0060836|ICD10:Q11.0|UMLS:C2751307|MESH:C567757|OMIM:613094 owl:Class MONDO:0000062 biolink:NamedThing isolated microphthalmia A microphthalmia that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl microphthalmia, isolated|nonsyndromic microphthalmia DOID:0080637|OMIMPS:251600 owl:Class MONDO:0012392 biolink:NamedThing 2-methylbutyryl-CoA dehydrogenase deficiency A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. tmpte7i6ely_mondo_relaxed.owl SBCAD deficiency|2-methylbutyric aciduria|short/branched-chain acyl-Coa dehydrogenase deficiency|developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|2-methylbutyryl Glycinuria|short/branched-chain acyl-coA dehydrogenase deficiency|short branched-chain acyl-CoA dehydrogenase deficiency|2-methylbutyryl-CoA dehydrogenase deficiency|butyryl-CoA dehydrogenase deficiency Orphanet:79157|OMIM:610006|ICD10:E71.1|MESH:C566487|NCIT:C98863|GARD:0010322|UMLS:C1864912 https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency owl:Class MONDO:0020157 biolink:NamedThing syndromic palpebral coloboma tmpte7i6ely_mondo_relaxed.owl UMLS:CN227802|Orphanet:98566 owl:Class MONDO:0022832 biolink:NamedThing congenital heart disease radio ulnar synostosis intellectual disability tmpte7i6ely_mondo_relaxed.owl GARD:0001484 https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation owl:Class NCBITaxon:5761 biolink:NamedThing Naegleria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5765 biolink:NamedThing Vahlkampfiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006935 biolink:NamedThing pulmonary subvalvular stenosis The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies. tmpte7i6ely_mondo_relaxed.owl pulmonary infundibular stenosis|congenital infundibular stenosis|infundibular pulmonic stenosis, congenital|subvalvular pulmonic stenosis|infundibular pulmonic stenosis MESH:D011662|ICD9:746.83|ICD10:Q24.3|SCTID:204370002|DOID:8861|NCIT:C34961|EFO:1001137 owl:Class MONDO:0006936 biolink:NamedThing pulmonary valve stenosis The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. tmpte7i6ely_mondo_relaxed.owl MedDRA:10037450|DOID:6420|EFO:1001138|MESH:D011666 owl:Class MONDO:0019632 biolink:NamedThing Lyme disease Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. tmpte7i6ely_mondo_relaxed.owl neurological Lyme disease|Bannwarth syndrome|Borrelia|Borreliella burgdorferi disease or disorder|neuroborreliosis|Borreliella burgdorferi caused disease or disorder|Bannworth's syndrome|Lyme neuroborreliosis|Borreliella burgdorferi infectious disease|Lyme borreliosis|Borrelia burgdorferi infection|Lyme disease ICD10:A69.20|ICD10:A69.2|ICD9:088.81|MedDRA:10025169|Orphanet:91546|EFO:0008510|UMLS:C0024198|MESH:D008193|NCIT:C45161|SCTID:48982009|GARD:0012073|DOID:11729 owl:Class MONDO:0021839 biolink:NamedThing spirochaetales infections Infections with bacteria of the order SPIROCHAETALES. tmpte7i6ely_mondo_relaxed.owl Spirochete Infection|SPIROCHAETALES INFECT|Infection, Spirochaetales|Spirochaetales Infection|Spirochetal infection|Infections, Spirochaetales|Spirochetosis|Infections, Spirochete|Infection, Spirochete|INFECT SPIROCHAETALES|SPIROCHETE INFECT|Spirochete Infections|Spirochaetales Infections|INFECT SPIROCHETE MESH:D013145|GARD:0007682|UMLS:C0037974 owl:Class MONDO:0002912 biolink:NamedThing brainstem cancer A primary or metastatic malignant neoplasm that affects the brain stem. tmpte7i6ely_mondo_relaxed.owl malignant brain stem neoplasm|brain stem cancer|malignant tumor of brainstem|malignant neoplasm of brainstem|malignant neoplasm of the brain stem|neoplasm of brain stem|cancer of brainstem|malignant brainstem tumor|malignant neoplasm of the brainstem|brainstem cancer|neoplasm of adult brain stem|malignant neoplasm of brain stem|malignant brainstem neoplasm|primary brain stem tumor|primary brain stem neoplasm|malignant tumor of the brain stem|malignant brain stem tumor|malignant tumor of brain stem|malignant tumor of the brainstem|tumor of the brainstem ICD10:C71.7|DOID:4203|UMLS:C1332192|SCTID:363473003|NCIT:C4869|GARD:0008244|NCIT:C3570|MESH:D020295|ICD9:191.7|NCIT:C5967 https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer owl:Class MONDO:0003107 biolink:NamedThing infratentorial cancer Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces. tmpte7i6ely_mondo_relaxed.owl malignant infratentorial neoplasm|malignant infratentorial tumor|infratentorial neoplasms, malignant|brain neoplasm, infratentorial|malignant infratentorial tumors NCIT:C4966|DOID:4706|MESH:D015192|ICD10:C71.7|UMLS:C0751593 owl:Class UBERON:0006810 biolink:NamedThing olecranon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005055 biolink:NamedThing zone of long bone tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:18405 biolink:NamedThing pyridoxal 5'-phosphate The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal. tmpte7i6ely_mondo_relaxed.owl Pyridoxal 5-phosphate|pyridoxal 5'-(dihydrogen phosphate)|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate|Pyridoxal phosphate|pyridoxal 5-monophosphoric acid ester|PYRIDOXAL-5'-PHOSPHATE|Pyridoxal 5'-phosphate|PLP|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate|3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde|codecarboxylase|Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester owl:Class CHEBI:38187 biolink:NamedThing pyridinecarbaldehyde tmpte7i6ely_mondo_relaxed.owl pyridinecarbaldehydes owl:Class MONDO:0020663 biolink:NamedThing malignant spindle cell neoplasm A malignant neoplasm characterized by the presence of atypical spindle cells. tmpte7i6ely_mondo_relaxed.owl malignant spindle cell neoplasm|spindle cell cancer|malignant spindle cell tumor NCIT:C27091 owl:Class HGNC:6171 biolink:NamedThing ITK tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2020 biolink:NamedThing CLCN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001231 biolink:NamedThing orbital periostitis tmpte7i6ely_mondo_relaxed.owl DOID:11231|ICD10:H05.03|SCTID:65974003|UMLS:C0155257|ICD9:376.02 owl:Class MONDO:0004934 biolink:NamedThing periostitis Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl periosteum inflammation|inflammation of periosteum|periostitis|periostitis (disease)|periosteum periostitis (disease) NCIT:C13184|DOID:9957|SCTID:41910004|UMLS:C0031111|HP:0040165|MESH:D010522 owl:Class MONDO:0004006 biolink:NamedThing rete ovarii cystadenofibroma An exceptionally rare cystadenofibroma that arises from the rete ovarii. tmpte7i6ely_mondo_relaxed.owl cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma NCIT:C40020|UMLS:C1514906|DOID:6838 owl:Class CHEBI:79020 biolink:NamedThing alpha,beta-unsaturated monocarboxylic acid A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond. tmpte7i6ely_mondo_relaxed.owl 2,3-unsaturated monocarboxylic acid|alpha,beta-unsaturated monocarboxylic acids|2,3-unsaturated monocarboxylic acids owl:Class CHEBI:25384 biolink:NamedThing monocarboxylic acid An oxoacid containing a single carboxy group. tmpte7i6ely_mondo_relaxed.owl monocarboxylic acids owl:Class FOODON:03400229 biolink:NamedThing beverage (us cfr) Alcoholic or nonalcoholic beverage; excludes milk and milk-based beverages, fruit juices and fruit juice drinks, and vegetable juices. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0229 http://langual.org owl:Class FOODON:03401270 biolink:NamedThing U.S. code of federal regulations, title 21 food product type Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A1270 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org https://www.ecfr.gov/cgi-bin/text-idx?SID=87f720ce0d0b6c4548f4bbfd1f8e4c3d&mc=true&tpl=/ecfrbrowse/Title21/21chapterI.tpl owl:Class MONDO:0010384 biolink:NamedThing hypospadias 1, X-linked tmpte7i6ely_mondo_relaxed.owl HYSP1|hypospadias 1, X-linked MESH:C567482|Orphanet:440|UMLS:C2678098|OMIM:300633 owl:Class MONDO:0005345 biolink:NamedThing hypospadias Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. tmpte7i6ely_mondo_relaxed.owl hypospadias familial|familial hypospadias|hypospadias (disease)|hypospadias hypospadias (disease) OMIM:300856|MESH:D007021|ICD9:752.61|DOID:10892|ICD10:Q54.2|ICD10:Q54.0|ICD10:Q54.3|ICD10:Q54.9|UMLS:C0848558|HP:0000047|SCTID:416010008|OMIM:300758|OMIM:300633|ICD10:Q54.8|ICD10:Q54|EFO:0004209|UMLS:CN205090|ICD10:Q54.1|NCIT:C40341|OMIMPS:300633|OMIM:146450|ICD10:Q54.4|GARD:0002929|Orphanet:440 owl:Class GO:0090257 biolink:NamedThing regulation of muscle system process Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044057 biolink:NamedThing regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015650 biolink:NamedThing epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl epileptic syndrome|syndromic epilepsy Orphanet:166463 owl:Class UBERON:0000410 biolink:NamedThing bronchial mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000168 biolink:NamedThing insulin secreting cell tmpte7i6ely_mondo_relaxed.owl BTO:0000783 cell owl:Class CL:0000154 biolink:NamedThing protein secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0009580 biolink:NamedThing intellectual disability, autosomal recessive 1 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive type 1|intellectual disability, autosomal recessive 1|PRSS12 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|MRT1|intellectual disability, autosomal recessive type 1|mental retardation, autosomal recessive 1 OMIM:249500|MESH:C565406|UMLS:C1855304 owl:Class GO:0090274 biolink:NamedThing positive regulation of somatostatin secretion Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003647 biolink:NamedThing atrophic flaccid tympanic membrane tmpte7i6ely_mondo_relaxed.owl DOID:5781|ICD9:384.81|SCTID:38645004|ICD10:H73.81|UMLS:C0155470 owl:Class MONDO:0003648 biolink:NamedThing tympanic membrane disorder A disease involving the tympanic membrane. tmpte7i6ely_mondo_relaxed.owl disease or disorder of tympanic membrane|tympanic membrane disease|tympanic membrane disease or disorder|disorder of tympanic membrane|disease of tympanic membrane UMLS:C0041825|ICD10:H73.9|ICD9:384.9|SCTID:21426000|DOID:5782|ICD10:H73.90 owl:Class GO:1903725 biolink:NamedThing regulation of phospholipid metabolic process Any process that modulates the frequency, rate or extent of phospholipid metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of phospholipid metabolism owl:Class GO:0019220 biolink:NamedThing regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpte7i6ely_mondo_relaxed.owl regulation of phosphate metabolism owl:Class MONDO:0004721 biolink:NamedThing liver neoplasm A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of liver|epithelial hepatic and intrahepatic bile duct neoplasm|liver neoplasm (disease)|tumor of liver|liver tumor|liver and intrahepatic bile duct epithelial neoplasm EFO:1001513|NCIT:C7106|NCIT:C7103|UMLS:C0023903|DOID:916|ONCOTREE:LIVER|SCTID:126851005|UMLS:C1333976 Editor note: consider merging with liver and intrahepatic bile duct neoplasm owl:Class MONDO:0017950 biolink:NamedThing microcephalic primordial dwarfism tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.1|UMLS:CN437676|Orphanet:324761 owl:Class MONDO:0019699 biolink:NamedThing slender bone dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93440 owl:Class MONDO:0003384 biolink:NamedThing uterine ligament clear cell adenocarcinoma A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated. tmpte7i6ely_mondo_relaxed.owl uterine ligament clear cell adenocarcinoma UMLS:C1519867|NCIT:C40139|DOID:5302 owl:Class MONDO:0002741 biolink:NamedThing uterine ligament adenocarcinoma A rare adenocarcinoma that arises from the uterine ligament. tmpte7i6ely_mondo_relaxed.owl uterine ligament adenocarcinoma DOID:3700|UMLS:C1519866|NCIT:C40135 owl:Class ENVO:01000323 biolink:NamedThing atmospheric boundary layer The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence). tmpte7i6ely_mondo_relaxed.owl planetary boundary layer owl:Class ENVO:01000544 biolink:NamedThing boundary layer A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow. tmpte7i6ely_mondo_relaxed.owl boundary layer owl:Class MONDO:0024416 biolink:NamedThing Neorickettsia infectious disease A disease caused by infection with Neorickettsia. tmpte7i6ely_mondo_relaxed.owl Neorickettsia caused disease or disorder|neorickettsiosis|Neorickettsia disease or disorder SCTID:78355003|UMLS:C0276121 owl:Class MONDO:0006922 biolink:NamedThing Anaplasmataceae infectious disease Infections with bacteria of the family anaplasmataceae. tmpte7i6ely_mondo_relaxed.owl Haemobartonelloses|Anaplasmataceae disease or disorder|Anaplasmataceae caused disease or disorder|Haemobartonellosis|infections, Anaplasmataceae|infection, Anaplasmataceae|Anaplasmataceae infection SCTID:422167001|MESH:D000711|EFO:1001123 owl:Class MONDO:0016982 biolink:NamedThing angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. tmpte7i6ely_mondo_relaxed.owl hemangiosarcoma|angiosarcoma|sarcoma of blood vessel|vascular sarcoma|malignant angioendothelioma|malignant hemangioendothelioma|hemangiosarcoma, malignant|blood vessel sarcoma|angiosarcoma (disease) angiosarcoma (disease) ONCOTREE:ANGS|EFO:0003968|UMLS:C0018923|NCIT:C3088|DOID:0001816|HP:0200058|ICDO:9120/3|Orphanet:263413|EFO:0003967|ICD9:171.9|MESH:D006394|SCTID:403977003|ICD10:C49.9|MedDRA:10002476 owl:Class CHEBI:27081 biolink:NamedThing transition element atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. tmpte7i6ely_mondo_relaxed.owl transition element|metales de transicion|metal de transicion|metal de transition|Uebergangsmetalle|Uebergangselement|transition elements|metaux de transition|transition metal|transition metals owl:Class HP:0002240 biolink:NamedThing Hepatomegaly Abnormally increased size of the liver. tmpte7i6ely_mondo_relaxed.owl Enlarged liver UMLS:C0019209|SNOMEDCT_US:80515008|MSH:D006529 HP:0001393|HP:0001398 human_phenotype owl:Class HP:0003271 biolink:NamedThing Visceromegaly Abnormal increased size of the viscera of the abdomen. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:28543008|UMLS:C0042782 Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. human_phenotype owl:Class MONDO:0037003 biolink:NamedThing malignant phyllodes tumor A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases. tmpte7i6ely_mondo_relaxed.owl phyllodes tumor, malignant|malignant phyllodes tumor|malignant cystosarcoma phyllodes|malignant phyllodes neoplasm ICDO:9020/3|NCIT:C4275 owl:Class MONDO:0005853 biolink:NamedThing malignant mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. tmpte7i6ely_mondo_relaxed.owl malignant mixed tumor|tumor, malignant mixed|tumors, malignant mixed|mixed tumor, malignant|mixed cell type cancer|mixed tumors, malignant|mixed tumor, malignant, NOS (morphologic abnormality)|malignant mixed neoplasm|mixed tumor, malignant (morphologic abnormality)|malignant mixed cancer|mixed neoplasm, malignant|malignant mixed tumors|tumor, mixed, malignant|mixed neoplasm|mixed tumor UMLS:C0206625|DOID:154|ICDO:8940/3|NCIT:C3729|MESH:D018198|EFO:0007373|EFO:1000356 owl:Class MONDO:0022618 biolink:NamedThing burning mouth syndrome type 3 tmpte7i6ely_mondo_relaxed.owl Psychiatric disorders coexisting with burning mouth syndrome|BMS-3|type 3 burning mouth syndrome UMLS:C2931487|MESH:C537413|GARD:0008558 https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3 owl:Class MONDO:0006687 biolink:NamedThing burning mouth syndrome A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. tmpte7i6ely_mondo_relaxed.owl Orodynia|Stomatopyrosis|oral dysesthesia|BMS|stomatodynia NCIT:C62545|MESH:D002054|Orphanet:353253|MedDRA:10068065|EFO:1000850|SCTID:399165002|UMLS:C0006430|GARD:0005974|DOID:4331|UMLS:C2930806|ICD10:K14.6|UMLS:CN242089 owl:Class UBERON:0006877 biolink:NamedThing vasculature of liver tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006876 biolink:NamedThing vasculature of organ tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:779 biolink:NamedThing ATCAY tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23228 biolink:NamedThing CPAMD8 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0032263 biolink:NamedThing Increased blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. tmpte7i6ely_mondo_relaxed.owl Increased BP 2019-01-27 20:07:59+00:00 peter human_phenotype owl:Class HP:0030972 biolink:NamedThing Abnormal systemic blood pressure A chronic deviation from normal pressure in the systemic arterial system. tmpte7i6ely_mondo_relaxed.owl Abnormal systemic BP 2017-04-18 13:55:40+00:00 robinp human_phenotype owl:Class GO:0035295 biolink:NamedThing tube development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048856 biolink:NamedThing anatomical structure development The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpte7i6ely_mondo_relaxed.owl development of an anatomical structure owl:Class MONDO:0008116 biolink:NamedThing oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. tmpte7i6ely_mondo_relaxed.owl OPMD|muscular dystrophy, oculopharyngeal|oculopharyngeal muscular dystrophy UMLS:C0270952|OMIM:164300|MESH:D039141|Orphanet:270|ICD10:G71.0|NCIT:C84942|GARD:0007245|MedDRA:10052181|DOID:11719|SCTID:77097004 https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy owl:Class MONDO:0018362 biolink:NamedThing persistent idiopathic facial pain tmpte7i6ely_mondo_relaxed.owl PIFP|atypical facial pain|AFP Orphanet:398147|ICD10:G50.1 Editor note: TODO add HPO class owl:Class MONDO:0044889 biolink:NamedThing high grade B-cell lymphoma A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. tmpte7i6ely_mondo_relaxed.owl high-grade B-cell lymphoma|HGBL|high grade B-cell lymphoma NCIT:C138211|SCTID:277617004|UMLS:C0456863 owl:Class MONDO:0018905 biolink:NamedThing diffuse large B-cell lymphoma Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. tmpte7i6ely_mondo_relaxed.owl DLBCL|diffuse large B-cell lymphoma GARD:0003178|UMLS:C0079744|ICDO:9680/3|Orphanet:544|ICD10:C83.3|EFO:0000403|ICD9:200.7|DOID:0050745|MESH:D016403|MedDRA:10012818|NCIT:C8851 https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma owl:Class UBERON:0000379 biolink:NamedThing tracheal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014110 biolink:NamedThing cataract 15 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene. tmpte7i6ely_mondo_relaxed.owl CTRCT15|early-onset non-syndromic cataract caused by mutation in MIP|cataract 15, multiple types|MIP early-onset non-syndromic cataract Orphanet:98995|Orphanet:98991|UMLS:C3809001|Orphanet:98985|DOID:0110251|Orphanet:91492|Orphanet:98994|ICD10:Q12.0|OMIM:615274|Orphanet:98989 owl:Class MONDO:0009476 biolink:NamedThing atresia of small intestine Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases. tmpte7i6ely_mondo_relaxed.owl apple peel syndrome|congenital atresia of the small intestine|APSB|atresia of the small intestine|apple-peel intestinal atresia|congenital small intestine atresia|jejunal atresia|familial apple peel jejunal atresia|apple peel small bowel syndrome|intestinal atresia type IIIb|Jejunoileal atresia|small intestine atresia|small intestinal atresia ICD10:Q41.8|ICD10:Q41.9|GARD:0006799|UMLS:C0266172|ICD10:Q41.0|MedDRA:10010626|NCIT:C98828|GARD:0000140|ICD10:Q41.2|OMIM:243600|MESH:C538260|ICD10:Q41.1|Orphanet:1201 owl:Class MONDO:0018241 biolink:NamedThing primary short bowel syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q41.0|UMLS:CN204780|Orphanet:365563 owl:Class MONDO:0001340 biolink:NamedThing heart cancer A malignant neoplasm involving the heart tmpte7i6ely_mondo_relaxed.owl malignant Cardiac tumor|cancer of heart|malignant heart tumor|malignant heart neoplasm|Cardiac tumor|malignant tumor of the heart|Cardiac neoplasm, malignant|tumour of heart|heart cancer|malignant Cardiac neoplasm|malignant tumor of heart|malignant neoplasm of heart|malignant neoplasm of the heart MESH:D006338|ICD10:C38.0|NCIT:C3081|ICD9:164.1|DOID:117|NCIT:C3548 owl:Class MONDO:0004139 biolink:NamedThing normocytic anemia Anemia in which the red blood cell volume is normal. tmpte7i6ely_mondo_relaxed.owl normocytic Anemia|anemia normocytic DOID:720|ICD9:285.8|NCIT:C35142|UMLS:C0085577|SCTID:300980002 owl:Class MONDO:0015997 biolink:NamedThing ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl noble Bass Sherman syndrome|ectopia lentis chorioretinal dystrophy myopia|noble-Bass-Sherman syndrome SCTID:722437006|Orphanet:1884|MESH:C536124|ICD10:Q15.8|GARD:0003999 owl:Class ECTO:0000637 biolink:NamedThing exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor. tmpte7i6ely_mondo_relaxed.owl exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor owl:Class UBERON:0001591 biolink:NamedThing thymic vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007072 biolink:NamedThing ADULT syndrome ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. tmpte7i6ely_mondo_relaxed.owl acrodermatounguallacrimaltooth syndrome|acro-dermato-ungual-lacrimal-tooth syndrome|ADULT syndrome|acro dermato ungual lacrimal tooth syndrome|acro-dermato-ungual-lacrimal-Tooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome DOID:0050601|ICD10:Q87.2|MESH:C538052|Orphanet:978|GARD:0000384|OMIM:103285|UMLS:C1863204|SCTID:720464003 owl:Class MONDO:0008445 biolink:NamedThing delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. tmpte7i6ely_mondo_relaxed.owl speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases|Mehes syndrome Orphanet:3038|UMLS:C2931119|GARD:0003449|SCTID:716199000|OMIM:182875|ICD10:Q87.0 owl:Class GO:1903942 biolink:NamedThing positive regulation of respiratory gaseous exchange Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. tmpte7i6ely_mondo_relaxed.owl activation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange|upregulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange owl:Class GO:0043576 biolink:NamedThing regulation of respiratory gaseous exchange Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020496 biolink:NamedThing familial porencephaly An instance of porencephaly that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl familial porencephalic white matter disease|hereditary porencephaly OMIM:614483|OMIMPS:175780|ICD10:Q04.6|OMIM:175780|GARD:0002258|Orphanet:99810 https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly owl:Class MONDO:0017410 biolink:NamedThing porencephaly Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. tmpte7i6ely_mondo_relaxed.owl MESH:D065708|MedDRA:10036172|DOID:0060263|OMIM:175780|ICD10:Q04.6|Orphanet:2940|GARD:0007430|HP:0002132 https://rarediseases.info.nih.gov/diseases/7430/porencephaly owl:Class GO:1903530 biolink:NamedThing regulation of secretion by cell Any process that modulates the frequency, rate or extent of secretion by cell. tmpte7i6ely_mondo_relaxed.owl regulation of cellular secretion owl:Class HGNC:6470 biolink:NamedThing L1CAM tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001207 biolink:NamedThing mucosa of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013038 biolink:NamedThing CLOVES syndrome CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. tmpte7i6ely_mondo_relaxed.owl congenital lipomatous overgrowth - vascular malformation - epidermal nevi|CLOVES syndrome|congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|CLOVE syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|congenital lipomatous overgrowth, vascular malformations, and epidermal nevi OMIM:612918|GARD:0010939|MESH:C567863|GARD:10939|Orphanet:140944|DOID:0080351|UMLS:C2752042|SCTID:719475006|ICD10:Q87.3 owl:Class UBERON:0010321 biolink:NamedThing skeletal element of eye region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010313 biolink:NamedThing neural crest-derived structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006613 biolink:NamedThing stromal corneal pigmentation Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium. tmpte7i6ely_mondo_relaxed.owl stromal corneal pigmentations ICD9:371.12|EFO:1000770|UMLS:C0155105|ICD10:H18.06|DOID:12311|SCTID:55031000 owl:Class MONDO:0001308 biolink:NamedThing corneal deposit tmpte7i6ely_mondo_relaxed.owl deposits - cornea ICD10:H18.00|ICD9:371.10|SCTID:74460005|UMLS:C0162281|DOID:11547|ICD10:H18.0 Editor note: consider placing in HPO owl:Class HGNC:1785 biolink:NamedThing CDKN1B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:67 biolink:NamedThing ABCD3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051321 biolink:NamedThing meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. tmpte7i6ely_mondo_relaxed.owl meiosis owl:Class GO:0007049 biolink:NamedThing cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. tmpte7i6ely_mondo_relaxed.owl cell-division cycle owl:Class MONDO:0014061 biolink:NamedThing Steel syndrome A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. tmpte7i6ely_mondo_relaxed.owl steel syndrome|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature|STLS UMLS:C3554594|ICD10:Q87.5|OMIM:615155|Orphanet:438117 owl:Class MONDO:0018537 biolink:NamedThing squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of gallblader and EBT SCTID:766978002|ICD10:C24.9|ICD10:C24.1|ICD10:C23|Orphanet:424996|UMLS:CN237538|ICD10:C24.8|ICD10:C24.0 owl:Class HGNC:3439 biolink:NamedThing ERCC8 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000417 biolink:NamedThing endopolyploid cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000412 biolink:NamedThing polyploid cell A cell whose nucleus, or nuclei, each contain more than two haploid genomes. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0042697 biolink:NamedThing menopause Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022601 biolink:NamedThing menstrual cycle phase The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004297 biolink:NamedThing respiratory system blood vessel smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045542 biolink:NamedThing positive regulation of cholesterol biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpte7i6ely_mondo_relaxed.owl activation of cholesterol biosynthetic process|up-regulation of cholesterol biosynthetic process|positive regulation of cholesterol biosynthesis|up regulation of cholesterol biosynthetic process|upregulation of cholesterol biosynthetic process|positive regulation of cholesterol anabolism|positive regulation of cholesterol formation|positive regulation of cholesterol synthesis|stimulation of cholesterol biosynthetic process owl:Class CL:0000667 biolink:NamedThing collagen secreting cell An extracellular matrix secreting cell that secretes collagen. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000327 biolink:NamedThing extracellular matrix secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:1904018 biolink:NamedThing positive regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. tmpte7i6ely_mondo_relaxed.owl up-regulation of vascular system development|activation of vasculature development|up-regulation of vasculature development|positive regulation of vascular system development|up regulation of vascular system development|upregulation of vascular system development|up regulation of vasculature development|upregulation of vasculature development|activation of vascular system development owl:Class UBERON:0008114 biolink:NamedThing joint of girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017811 biolink:NamedThing severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion tmpte7i6ely_mondo_relaxed.owl Del(5)(q31.3)|monosomy 5q31.3|5q31.3 microdeletion syndrome Orphanet:314655|SCTID:768555009|UMLS:CN203780|ICD10:Q93.5 owl:Class MONDO:0000532 biolink:NamedThing lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin. tmpte7i6ely_mondo_relaxed.owl DOID:0050917 owl:Class GO:0048608 biolink:NamedThing reproductive structure development The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011988 biolink:NamedThing neutrophil immunodeficiency syndrome A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. tmpte7i6ely_mondo_relaxed.owl neutrophil immunodeficiency syndrome MESH:C564275|OMIM:608203|UMLS:C1842398|SCTID:723443003|ICD10:D71|Orphanet:183707 owl:Class MONDO:0015978 biolink:NamedThing functional neutrophil defect tmpte7i6ely_mondo_relaxed.owl neutrophil disease|neutrophilopathy SCTID:105600002|Orphanet:183681 owl:Class MONDO:0020720 biolink:NamedThing X-linked hypophosphatemic rickets tmpte7i6ely_mondo_relaxed.owl X-linked hypophosphatemic rickets (recessive or dominant)|X-linked hypophosphatemic rickets UMLS:C3540852|NCIT:C123265|MESH:D053098 https://github.com/monarch-initiative/mondo/issues/2844 owl:Class MONDO:0002117 biolink:NamedThing pancreas sarcoma A rare malignant soft tissue neoplasm that occurs primarily in the pancreas. tmpte7i6ely_mondo_relaxed.owl sarcoma of pancreas|pancreas sarcoma|pancreatic sarcoma|sarcoma of the pancreas NCIT:C5715|UMLS:C1096346|DOID:1796 owl:Class MONDO:0009831 biolink:NamedThing malignant pancreatic neoplasm A malignant neoplasm involving the pancreas. tmpte7i6ely_mondo_relaxed.owl cancer of pancreas|pancreatic cancer|malignant neoplasm of the pancreas|malignant neoplasm of tail of pancreas|Ca head of pancreas|malignant pancreatic neoplasm|pancreas neoplasm|Ca body of pancreas|malignant pancreas neoplasm|malignant neoplasm of body of pancreas|Ca tail of pancreas|pancreas cancer|malignant neoplasm of pancreas|malignant neoplasm of head of pancreas SCTID:126859007|ICD9:157.1|ICD9:157.0|EFO:1000359|KEGG:05212|ICD9:157.2|ICD10:C25.9|MESH:D010190|Orphanet:1333|NCIT:C9005|ICD9:157.8|DOID:1793|UMLS:C0235974 owl:Class MONDO:0004648 biolink:NamedThing vascular dementia A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. tmpte7i6ely_mondo_relaxed.owl multi infarct dementia|vascular dementia|multifocal dementia ICD10:F01|EFO:0004718|NCIT:C34522|UMLS:C0011269|NCIT:C34525|ICD10:F01.5|MESH:D015161|SCTID:56267009|MESH:D015140|ICD9:290.4|SCTID:429998004|DOID:8725 owl:Class UBERON:0004296 biolink:NamedThing respiratory system lymphatic vessel smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905902 biolink:NamedThing regulation of mesoderm formation Any process that modulates the frequency, rate or extent of mesoderm formation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009359 biolink:NamedThing multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome tmpte7i6ely_mondo_relaxed.owl hydranencephaly with renal aplasia-dysplasia|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly|MARCH|MARCH syndrome|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500|MESH:C565507|DOID:0080327|UMLS:C1856053|Orphanet:500135 owl:Class MONDO:0043009 biolink:NamedThing genetic lethal multiple congenital anomalies/dysmorphic syndrome An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:471383 owl:Class MONDO:0009966 biolink:NamedThing NPHP3-related Meckel-like syndrome tmpte7i6ely_mondo_relaxed.owl Meckel syndrome 7|Meckel syndrome type 7|Meckel syndrome, type 7|Meckel-like syndrome type 1|Meckel-Gruber syndrome, type 7|MKS7|renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|NPHP3-related Meckel-like syndrome|Goldston syndrome Orphanet:3032|ICD10:Q61.9|PMID:18371931|MESH:C537756|OMIM:267010|UMLS:C2673885|GARD:0004665|DOID:0070121 https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia owl:Class UBERON:0016540 biolink:NamedThing occipital cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016529 biolink:NamedThing cortex of cerebral lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014115 biolink:NamedThing hypomyelination with brain stem and spinal cord involvement and leg spasticity tmpte7i6ely_mondo_relaxed.owl HBSL|hypomyelination with brainstem and spinal cord involvement and leg spasticity|aspartyl-tRNA synthetase deficiency OMIM:615281|Orphanet:363412|ICD10:E75.2|UMLS:C3809008 owl:Class MONDO:0000378 biolink:NamedThing malignant Sertoli cell tumor A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site. tmpte7i6ely_mondo_relaxed.owl malignant Androblastoma|Sertoli cell tumor, malignant ICDO:8640/3|ICDO:8630/3|UMLS:C0334406|DOID:0050617|NCIT:C67006 owl:Class MONDO:0002696 biolink:NamedThing Sertoli cell tumor A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. tmpte7i6ely_mondo_relaxed.owl Sertoli cell tumor|tubular androblastoma|tubular androblastoma NOS (morphologic abnormality) MESH:D012707|ICDO:8640/1|DOID:3577|NCIT:C39976|ICDO:8630/1|UMLS:C0036769 owl:Class MONDO:0018159 biolink:NamedThing atypical hemolytic-uremic syndrome with DGKE deficiency tmpte7i6ely_mondo_relaxed.owl atypical HUS with DGKE deficiency|aHUS with DGKE deficiency|D-HUS with DGKE deficiency|hemolytic-uremic syndrome without diarrhea with DGKE deficiency ICD10:D58.8|OMIM:615008|Orphanet:357008|UMLS:CN204596|DOID:0080388 owl:Class MONDO:0000964 biolink:NamedThing skin lipoma A benign or malignant adipose tissue neoplasm of the skin. tmpte7i6ely_mondo_relaxed.owl cutaneous lipomatous tumor|skin lipoma|lipoma of zone of skin|lipoma of face|lipoma of skin|cutaneous lipoma|zone of skin lipoma|lipoma of the skin DOID:10188|NCIT:C4616|ICD9:214.0|SCTID:255187008|ICD9:214.1 owl:Class MONDO:0045053 biolink:NamedThing osteogenic neoplasm A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma. tmpte7i6ely_mondo_relaxed.owl osteogenic neoplasm|osteogenic tumor|osseous tumor|osseous neoplasm NCIT:C6603 owl:Class MONDO:0002616 biolink:NamedThing mesenchymal cell neoplasm A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. tmpte7i6ely_mondo_relaxed.owl benign miscellaneous mesenchymal tumor|mesenchymal neoplasm|mesenchymal cell neoplasm|mesenchymal cell tumor|mesenchymal tumor NCIT:C7059|UMLS:C1334699|DOID:3350 owl:Class MONDO:0012129 biolink:NamedThing leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema|LACH UMLS:C1837329|MESH:C563852|GARD:0010065|OMIM:608809 https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema owl:Class MONDO:0004365 biolink:NamedThing necrotic uveal melanoma A uveal melanoma characterized by the presence of tumor cell necrosis. tmpte7i6ely_mondo_relaxed.owl UMLS:C1334931|DOID:7808|NCIT:C7990 owl:Class CHEBI:22718 biolink:NamedThing benzoates A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid. tmpte7i6ely_mondo_relaxed.owl benzoate anion owl:Class CHEBI:35757 biolink:NamedThing monocarboxylic acid anion A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated. tmpte7i6ely_mondo_relaxed.owl a monocarboxylate|monocarboxylic acid anions|monocarboxylates|Monocarboxylate|Carboxylate owl:Class GO:0033238 biolink:NamedThing regulation of cellular amine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. tmpte7i6ely_mondo_relaxed.owl regulation of amine metabolism owl:Class MONDO:0033621 biolink:NamedThing spinal muscular atrophy, infantile, James type tmpte7i6ely_mondo_relaxed.owl SMAJI OMIM:619042 owl:Class MONDO:0001647 biolink:NamedThing benign renovascular hypertension tmpte7i6ely_mondo_relaxed.owl DOID:13145|ICD9:405.11 owl:Class MONDO:0001105 biolink:NamedThing renal hypertension Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. tmpte7i6ely_mondo_relaxed.owl renovascular hypertension EFO:1002039|UMLS:C0020544|DOID:1073|NCIT:C3121|SCTID:28119000|MESH:D006977 owl:Class HGNC:11071 biolink:NamedThing SLC9A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000531 biolink:NamedThing primary sensory neuron tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000101 biolink:NamedThing sensory neuron Any neuron having a sensory function; an afferent neuron conveying sensory impulses. tmpte7i6ely_mondo_relaxed.owl FMA:84649|WBbt:0005759|FBbt:00005124|BTO:0001037 cell owl:Class HGNC:4162 biolink:NamedThing GARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:76712 biolink:NamedThing EC 4.2.* (C-O lyase) inhibitor A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*). tmpte7i6ely_mondo_relaxed.owl C-O lyase (EC 4.2.*) inhibitor|EC 4.2.* (C-O lyase) inhibitors|C-O lyase (EC 4.2.*) inhibitors|EC 4.2.* inhibitors|C-O lyase inhibitor|C-O lyase inhibitors|EC 4.2.* inhibitor owl:Class CHEBI:76710 biolink:NamedThing EC 4.* (lyase) inhibitor An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation. tmpte7i6ely_mondo_relaxed.owl EC 4.*.*.* inhibitors|EC 4.* inhibitors|EC 4.*.*.* inhibitor|EC 4.* (lyase) inhibitors|lyase (EC 4.*) inhibitorS|lyase (EC 4.*) inhibitor|lyase inhibitor|EC 4.* inhibitor|lyase inhibitors owl:Class GO:0016798 biolink:NamedThing hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any glycosyl bond. tmpte7i6ely_mondo_relaxed.owl glycosidase activity|N-glycosylase|glycosylase owl:Class GO:0016787 biolink:NamedThing hydrolase activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10627 biolink:NamedThing CCL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011363 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 3 tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, type 3|noninsulin-dependent diabetes mellitus 3|diabetes mellitus, noninsulin-dependent, 3|NIDDM3 OMIM:603694|UMLS:C1863594|MESH:C566342 owl:Class MONDO:0005148 biolink:NamedThing type 2 diabetes mellitus A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. tmpte7i6ely_mondo_relaxed.owl type 2 diabetes mellitus non-insulin dependent|noninsulin-dependent diabetes mellitus|type II diabetes mellitus|maturity-onset diabetes|diabetes mellitis type II|adult-onset diabetes|type 2 diabetes|NIDDM|insulin resistance, susceptibility to|type 2 diabetes mellitus|non-insulin dependent diabetes mellitus|diabetes mellitus, type 2|diabetes mellitus, type 2, protection against|type II diabetes|diabetes mellitus, noninsulin-dependent|adult onset diabetes|noninsulin dependent diabetes|non-insulin-dependent diabetes mellitus|diabetes mellitis type 2|diabetes, type 2|non-insulin dependent diabetes|T2DM - type 2 diabetes mellitus OMIM:616087|OMIM:125853|SCTID:44054006|DOID:9352|OMIM:603694|UMLS:CN244395|ICD10:E11|OMIM:601283|OMIM:601407|KEGG:04930|EFO:0001360|MESH:D003924|NCIT:C26747|OMIM:608036 owl:Class MONDO:0012757 biolink:NamedThing lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. tmpte7i6ely_mondo_relaxed.owl immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926|SCTID:721977007|UMLS:C3150156|ICD10:D82.8|Orphanet:137631 owl:Class MONDO:0017015 biolink:NamedThing primary interstitial lung disease specific to childhood tmpte7i6ely_mondo_relaxed.owl primary ILD specific to childhood|child|children's interstitial lung disease|primary interstitial lung disease specific to childhood GARD:0010559|UMLS:CN202326|Orphanet:264665 https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease owl:Class MONDO:0014895 biolink:NamedThing developmental and epileptic encephalopathy, 40 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene. tmpte7i6ely_mondo_relaxed.owl DEE40|epileptic encephalopathy, early infantile, type 40|epileptic encephalopathy, early infantile, 40|GUF1 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in GUF1|EIEE40|epileptic encephalopathy, early infantile, 40; EIEE40 UMLS:C4310737|OMIM:617065|DOID:0080427 owl:Class MONDO:0008425 biolink:NamedThing omphalocele syndrome, Shprintzen-Goldberg type Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. tmpte7i6ely_mondo_relaxed.owl Shprintzen-Goldberg omphalocele syndrome|omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|Shprintzen omphalocele syndrome|laryngeal and pharyngeal hypoplasia with omphalocele|pharynx and larynx hypoplasia with omphalocele OMIM:182210|MESH:C537329|Orphanet:3164|GARD:0009850|ICD10:Q79.2|SCTID:716230005|UMLS:C1866958 owl:Class UBERON:0034726 biolink:NamedThing trunk taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001571 biolink:NamedThing gynecomastia Development of breast tissue in males. tmpte7i6ely_mondo_relaxed.owl male organism hypertrophy of breast|hypertrophy of breast of male organism MESH:D006177|HP:0000771|SCTID:4754008|UMLS:C0018418|NCIT:C3073|ICD10:N62|DOID:12698 owl:Class MONDO:0002145 biolink:NamedThing difference of sexual differentiation A congenital disorder characterized by abnormalities in the development of the sexual characteristics. tmpte7i6ely_mondo_relaxed.owl disorder of sexual differentiation|sex differentiation disorder|disorders of sex development (DSD)|intersex|conditions affecting reproductive development|disorder of sex development|disorders of sex development|sex differentiation disease|sexual differentiation disorder|intersex conditions|CARD|DSD|differences of sex development|disorder of sex differentiation Orphanet:90771|SCTID:39179006|UMLS:CN757797|GTR:AN1172969|MESH:D012734|MedDRA:10070597|NCIT:C103186|DOID:1923 https://github.com/monarch-initiative/mondo/issues/4091 owl:Class GO:2000350 biolink:NamedThing positive regulation of CD40 signaling pathway Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpte7i6ely_mondo_relaxed.owl positive regulation of CD40 signalling pathway owl:Class GO:0009967 biolink:NamedThing positive regulation of signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction. tmpte7i6ely_mondo_relaxed.owl up regulation of signal transduction|upregulation of signal transduction|stimulation of signal transduction|positive regulation of signalling pathway|positive regulation of signaling pathway|up-regulation of signal transduction|activation of signal transduction owl:Class MONDO:0011429 biolink:NamedThing juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). tmpte7i6ely_mondo_relaxed.owl pauciarticular juvenile arthritis|systemic juvenile rheumatoid arthritis|JIA|juvenile idiopathic arthritis|juvenile chronic arthritis|pauciarticular onset juvenile chronic arthritis|juvenile chronic polyarthritis|acute juvenile rheumatoid arthritis|Juvenile idiopathic arthritis|juvenile rheumatoid arthritis|monarticular juvenile rheumatoid arthritis|rheumatoid arthritis, systemic juvenile MedDRA:10059177|DOID:676|NCIT:C114357|Orphanet:85414|Orphanet:92|ICD9:714.32|ICD10:M08.9|ICD9:714.33|MESH:D001171|ICD10:M08.8|ICD10:M08.1|ICD10:M08.2|ICD9:714.31|ICD9:714.3|ICD10:M08.4|OMIM:604302|ICD10:M08.3|ICD10:M08.40|ICD10:M08.0|SCTID:410502007 owl:Class MONDO:0005554 biolink:NamedThing rheumatic disorder Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. tmpte7i6ely_mondo_relaxed.owl rheumatologic disorder|disease, rheumatic|inflammatory rheumatism|connective tissue disease|collagen vascular disease|enthesopathy|collagen disease|rheumatic disease|musculoskeletal pain disorder|enthesopathies|diseases, rheumatic|rheumatism DOID:1575|Wikipedia:Rheumatism|EFO:0005755|UMLS:C0035435|MESH:D012216|SCTID:396332003|NCIT:C27204|ICD9:729.0 This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue owl:Class MONDO:0006219 biolink:NamedThing gallbladder small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. tmpte7i6ely_mondo_relaxed.owl Oat cell carcinoma of gallbladder|gallbladder small cell carcinoma|small cell carcinoma of gallbladder|Oat cell carcinoma of the gallbladder|small cell carcinoma of the gallbladder|gall bladder small cell carcinoma|gallbladder small cell neuroendocrine carcinoma|gallbladder small cell NEC|small cell carcinoma of gall bladder|gallbladder Oat cell carcinoma EFO:1000266|DOID:7133|UMLS:C1333759|NCIT:C6763 owl:Class MONDO:0033187 biolink:NamedThing combined oxidative phosphorylation defect type 29 tmpte7i6ely_mondo_relaxed.owl Orphanet:478029 owl:Class MONDO:0016387 biolink:NamedThing mitochondrial oxidative phosphorylation disorder tmpte7i6ely_mondo_relaxed.owl OXPHOS system deficiency|OXPHOS disease UMLS:CN201288|Orphanet:223713 owl:Class HGNC:10414 biolink:NamedThing RPS26 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018692 biolink:NamedThing variably protease-sensitive prionopathy tmpte7i6ely_mondo_relaxed.owl SCTID:721165001|UMLS:C4303527|ICD10:A81.8|Orphanet:454742 owl:Class MONDO:0021171 biolink:NamedThing Timothy syndrome type 1 (disorder) Classic form of Timothy syndrome, includes all features of generic. tmpte7i6ely_mondo_relaxed.owl Timothy syndrome, classic type SCTID:699256006|ICD9:759.89 owl:Class MONDO:0010979 biolink:NamedThing Timothy syndrome Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. tmpte7i6ely_mondo_relaxed.owl TIMOTHY syndrome|long QT syndrome type 8|TS|long QT syndrome-syndactyly syndrome|LQT8|long QT syndrome 8|Timothy syndrome|long QT syndrome with syndactyly Orphanet:65283|NCIT:C142894|ICD10:G72.3|DOID:0060173|OMIM:601005|GARD:0009294|MESH:C536962|ICD10:I45.8|UMLS:C1832916|Orphanet:768 https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome owl:Class UBERON:0001276 biolink:NamedThing epithelium of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000485 biolink:NamedThing simple columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35842 biolink:NamedThing antirheumatic drug A drug used to treat rheumatoid arthritis. tmpte7i6ely_mondo_relaxed.owl anti-rheumatic drugs|antirheumatic drugs|antirheumatic agent owl:Class CHEBI:23888 biolink:NamedThing drug Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. tmpte7i6ely_mondo_relaxed.owl medicine|drugs owl:Class MONDO:0004552 biolink:NamedThing microinvasive cervical squamous cell carcinoma A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low. tmpte7i6ely_mondo_relaxed.owl early invasive cervical squamous cell carcinoma NCIT:C36094|DOID:8409|UMLS:C1333370 owl:Class MONDO:0006143 biolink:NamedThing cervical squamous cell carcinoma A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis. tmpte7i6ely_mondo_relaxed.owl squamous cervical cancer|cervical squamous cell carcinoma|squamous cell carcinoma of cervix uteri|squamous cell carcinoma of uterine cervix|uterine cervix squamous cell carcinoma|squamous cell carcinoma of cervix|cervix squamous cell carcinoma|cervical squamous cell cancer|CESC|squamous cell carcinoma of the uterine cervix|cervix uteri squamous cell carcinoma|squamous cell carcinoma of the cervix uteri|squamous cell carcinoma of the cervix NCIT:C4028|DOID:3744|ICD10:C53.1|Orphanet:213767|ONCOTREE:CESC|SCTID:254886006|UMLS:C0279671|EFO:1000172|ICD10:C53.8|ICD10:C53.0 owl:Class MONDO:0001464 biolink:NamedThing sigmoid colon cancer A malignant neoplasm involving the sigmoid colon. tmpte7i6ely_mondo_relaxed.owl cancer of sigmoid colon|malignant neoplasm of sigmoid colon|Ca sigmoid colon|malignant tumor of sigmoid colon|sigmoid colon cancer|malignant sigmoid colon neoplasm ICD10:C18.7|DOID:12192|ICD9:153.3|SCTID:363410008|UMLS:C0153436 owl:Class MONDO:0001811 biolink:NamedThing tetanic cataract A cataract resulting from hypocalcemia. tmpte7i6ely_mondo_relaxed.owl hypocalcaemic cataract NCIT:C35068|SCTID:68216000|ICD9:366.42|DOID:13822|UMLS:C0039613 owl:Class MONDO:0013900 biolink:NamedThing alternating hemiplegia of childhood 2 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. tmpte7i6ely_mondo_relaxed.owl alternating hemiplegia of childhood 2|alternating hemiplegia of childhood caused by mutation in ATP1A3|alternating hemiplegia of childhood type 2|AHC2|ATP1A3 alternating hemiplegia of childhood OMIM:614820|Orphanet:2131|UMLS:C3553788 owl:Class MONDO:0700002 biolink:NamedThing ATP1A3-associated neurological disorder Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3. tmpte7i6ely_mondo_relaxed.owl neurological disorder caused by mutation in ATP1A3|ATP1A3 neurological disorder|ATP1A3 related neurological disorder http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:2171 biolink:NamedThing CNTN1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:62761 biolink:NamedThing tyrosine derivative An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues. tmpte7i6ely_mondo_relaxed.owl tyrosine derivatives owl:Class CHEBI:25985 biolink:NamedThing phenylalanine derivative An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007830 biolink:NamedThing pelvic girdle bone/zone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001091 biolink:NamedThing lipoma of colon A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. tmpte7i6ely_mondo_relaxed.owl lipoma of colon|lipoma of the colon|colonic lipoma|colon lipoma UMLS:C0940607|NCIT:C5493|DOID:10655 owl:Class MONDO:0003885 biolink:NamedThing colorectal lipoma A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. tmpte7i6ely_mondo_relaxed.owl lipoma of the large bowel|lipoma of the large intestine|lipoma of large bowel|colorectal lipoma|large bowel lipoma|large intestine lipoma|lipoma of large intestine UMLS:C1333114|DOID:6460|NCIT:C5678 owl:Class MONDO:0001433 biolink:NamedThing vaginal disorder A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl vagina disease|disorder of vagina|disease of vagina|vagina disease or disorder|vaginal disorder|vaginal disease|disease or disorder of vagina SCTID:25658005|DOID:121|MESH:D014623|UMLS:C0042251|NCIT:C26910 owl:Class HP:0001508 biolink:NamedThing Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. tmpte7i6ely_mondo_relaxed.owl Postnatal failure to thrive|Weight faltering|Poor weight gain|Faltering weight|Undergrowth UMLS:C2315100|SNOMEDCT_US:36440009|UMLS:C0231246|SNOMEDCT_US:432788009 Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). HP:0001535|HP:0008878|HP:0008916|HP:0008853 human_phenotype owl:Class HP:0004325 biolink:NamedThing Decreased body weight Abnormally low body weight. tmpte7i6ely_mondo_relaxed.owl Low weight|Low body weight|Decreased weight|Decreased body weight|Weight less than 3rd percentile UMLS:C1262477|SNOMEDCT_US:161832001|MSH:D015431|UMLS:C1844806|MSH:D013851|SNOMEDCT_US:89362005|SNOMEDCT_US:248342006|SNOMEDCT_US:262285001|UMLS:C0041667 peter 2008-02-27T03:22:00Z HP:0001826|HP:0001823 human_phenotype owl:Class GO:0032592 biolink:NamedThing integral component of mitochondrial membrane The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl integral to mitochondrial membrane owl:Class MONDO:0015780 biolink:NamedThing dyskeratosis congenita Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. tmpte7i6ely_mondo_relaxed.owl DC|Hoyeraal-Hreidarsson syndrome|Zinsser-Engman-Cole syndrome|DKC|dyskeratosis congenita|Zinsser Cole Engman syndrome NCIT:C111802|OMIM:613989|SCTID:74911008|OMIMPS:127550|OMIM:613987|MedDRA:10062759|OMIM:613988|MESH:D019871|OMIM:616353|OMIM:305000|OMIM:127550|OMIM:224230|OMIM:613990|GARD:0010905|DOID:2729|OMIM:615190|Orphanet:1775|ICD10:Q82.8|UMLS:C0265965 Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked owl:Class GO:0009142 biolink:NamedThing nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl nucleoside triphosphate formation|nucleoside triphosphate anabolism|nucleoside triphosphate biosynthesis|nucleoside triphosphate synthesis owl:Class GO:1901293 biolink:NamedThing nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. tmpte7i6ely_mondo_relaxed.owl nucleoside phosphate formation|nucleoside phosphate anabolism|nucleoside phosphate synthesis|nucleoside phosphate biosynthesis owl:Class MONDO:0014100 biolink:NamedThing dilated cardiomyopathy 1KK Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, type 1Kk|MYPN dilated cardiomyopathy|dilated cardiomyopathy type 1KK|cardiomyopathy, dilated, 1KK|dilated cardiomyopathy caused by mutation in MYPN|cardiomyopathy, familial restrictive, 4|CMD1KK|cardiomyopathy, familial hypertrophic, 22 ICD10:I42.0|OMIM:615248|Orphanet:75249|DOID:0110445 owl:Class MONDO:0005021 biolink:NamedThing dilated cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. tmpte7i6ely_mondo_relaxed.owl familial dilated cardiomyopathy|primary dilated cardiomyopathy|congestive cardiomyopathy|dilated cardiomyopathy|idiopathic dilation cardiomyopathy OMIM:615916|KEGG:05414|ICD9:425.4|EFO:0000407|SCTID:195021004|NCIT:C84673|MESH:D002311|UMLS:C0007193|HP:0001644|Orphanet:217604|MP:0002795|ICD10:I42.0|MedDRA:10056370|OMIM:115200|DOID:12930 owl:Class CHEBI:23423 biolink:NamedThing pseudohalogen oxoacid tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24833 biolink:NamedThing oxoacid A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpte7i6ely_mondo_relaxed.owl oxiacids|oxo acid|oxacids|oxoacid|oxyacids|oxoacids|oxy-acids owl:Class GO:0001816 biolink:NamedThing cytokine production The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl interferon secretion|cytokine secretion|interleukin production|interferon production|cytokine biosynthetic process|interleukin secretion|cytokine metabolic process owl:Class GO:0070858 biolink:NamedThing negative regulation of bile acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpte7i6ely_mondo_relaxed.owl negative regulation of bile acid anabolism|downregulation of bile acid biosynthetic process|negative regulation of bile acid synthesis|down-regulation of bile acid biosynthetic process|negative regulation of bile acid biosynthesis|negative regulation of bile acid formation|down regulation of bile acid biosynthetic process|inhibition of bile acid biosynthetic process owl:Class PATO:0002092 biolink:NamedThing anaplastic A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10484 biolink:NamedThing RYR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001061 biolink:NamedThing pylorus cancer A malignant neoplasm involving the pylorus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of pylorus of stomach|cancer of pylorus|pylorus cancer|malignant tumor of pylorus|malignant neoplasm of pylorus|malignant neoplasm of Prepylorus|malignant pylorus neoplasm|Ca pylorus - stomach ICD10:C16.4|DOID:10544|SCTID:187736009|ICD9:151.1|UMLS:C0153418 owl:Class UBERON:0003832 biolink:NamedThing esophagus muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001725 biolink:NamedThing balanitis xerotica obliterans A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis. tmpte7i6ely_mondo_relaxed.owl lichen Sclerosus of penis|lichen Sclerosus of the penis|penile lichen Sclerosus ICD9:607.81|NCIT:C3523|UMLS:C0152460|SCTID:198033005|DOID:13477 owl:Class MONDO:0006672 biolink:NamedThing balanitis An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. tmpte7i6ely_mondo_relaxed.owl balanitis|glans penis inflammation|inflammation of glans penis UMLS:C0004690|NCIT:C26705|SCTID:44882003|DOID:13033|ICD10:N48.1|MESH:D001446|MedDRA:10004073|EFO:1000833 owl:Class UBERON:0006291 biolink:NamedThing scapula pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015057 biolink:NamedThing scapula endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002308 biolink:NamedThing nucleus of brain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000125 biolink:NamedThing neural nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000339 biolink:NamedThing glioblast (sensu Vertebrata) An early neural cell developing from the early ependymal cell of the neural tube. tmpte7i6ely_mondo_relaxed.owl spongioblast FMA:70564 cell owl:Class CL:0000030 biolink:NamedThing glioblast tmpte7i6ely_mondo_relaxed.owl FBbt:00005145 cell owl:Class ENVO:01000305 biolink:NamedThing high temperature environment A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000835 biolink:NamedThing negative regulation of androgen secretion Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007010 biolink:NamedThing cleaving embryo tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006735 biolink:NamedThing duodenogastric reflux Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. tmpte7i6ely_mondo_relaxed.owl duodenogastric reflux (finding) EFO:1000909|MESH:D004383|UMLS:C0013299|MedDRA:10060865|DOID:4071 owl:Class MONDO:0019740 biolink:NamedThing acquired thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. tmpte7i6ely_mondo_relaxed.owl acquired thrombotic thrombocytopenic purpura|autoimmune thrombotic thrombocytopenic purpura|purpura, thrombotic thrombocytopenic|Moschowitz syndrome|TTP|acquired TTP|idiopathic thrombotic thrombocytopenic purpura|acquired ADAMTS13 deficiency Orphanet:93585|ICD10:M31.3|GARD:0004607|NCIT:C131653|UMLS:C2584778|UMLS:C2584777|MESH:C536901|SCTID:438476003 owl:Class MONDO:0018896 biolink:NamedThing thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. tmpte7i6ely_mondo_relaxed.owl Moschcowitz disease|TTP|Moschowitz disease|Moschcowitz's syndrome MESH:D011697|MedDRA:10043648|ICD10:M31.1|UMLS:C0034155|Orphanet:54057|SCTID:78129009|NCIT:C78797|DOID:10772|OMIM:274150 owl:Class NCBITaxon:2697049 biolink:NamedThing Severe acute respiratory syndrome coronavirus 2 tmpte7i6ely_mondo_relaxed.owl COVID19|SARS2|HCoV-19|2019-nCoV|COVID-19|Human coronavirus 2019|SARS-2|Wuhan coronavirus|SARS-CoV-2|COVID-19 virus|SARS-CoV2 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694009 biolink:NamedThing Severe acute respiratory syndrome-related coronavirus tmpte7i6ely_mondo_relaxed.owl HCoV-SARS|SARSr-CoV|SARS coronavirus|SARSrCoV|Human coronavirus (strain SARS)|SARS-related coronavirus|SARS|Severe acute respiratory syndrome coronavirus|SARS virus|SARS-like coronavirus GC_ID:1 NCBITaxon:227859|NCBITaxon:311178 ncbi_taxonomy owl:Class GO:0010678 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular carbohydrate metabolic process by repression of transcription|negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent|negative regulation of cellular carbohydrate metabolic process by transcriptional repression owl:Class CHEBI:35475 biolink:NamedThing non-steroidal anti-inflammatory drug An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. tmpte7i6ely_mondo_relaxed.owl non-steroidal anti-inflammatory agent|NSAID|NSAIDs|non-steroidal anti-inflammatory drugs owl:Class MONDO:0016460 biolink:NamedThing polyvalvular heart disease syndrome Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl PHD syndrome Orphanet:228410|SCTID:723448007|ICD10:Q87.8|UMLS:CN201425|UMLS:C4509918 owl:Class GO:0098609 biolink:NamedThing cell-cell adhesion The attachment of one cell to another cell via adhesion molecules. tmpte7i6ely_mondo_relaxed.owl single organismal cell-cell adhesion owl:Class GO:0007155 biolink:NamedThing cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. tmpte7i6ely_mondo_relaxed.owl single organism cell adhesion|cell adhesion molecule activity owl:Class HsapDv:0000117 biolink:NamedThing 23-year-old human stage Young adult stage that refers to an adult who is over 23 and under 24. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001241 biolink:NamedThing transient neonatal neutropenia tmpte7i6ely_mondo_relaxed.owl ICD9:776.7|UMLS:C0158997|DOID:11245|SCTID:55444004|ICD10:P61.5 owl:Class MONDO:0001475 biolink:NamedThing neutropenia A decrease in the number of neutrophils found in the blood. tmpte7i6ely_mondo_relaxed.owl neutropenic disorder|neutropenia ICD9:288.0|DOID:1227|SCTID:303011007|MESH:D009503|HP:0001875|ICD9:288.00|ICD10:D70|UMLS:C0027947|ICD10:D70.9 owl:Class MONDO:0018882 biolink:NamedThing vasculitis Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. tmpte7i6ely_mondo_relaxed.owl systemic vasculitis|angiitis UMLS:C0042384|EFO:0006803|MedDRA:10036023|Orphanet:52759|OMIM:615688|Wikipedia:Vasculitis|GARD:0009565|MESH:D014657|MedDRA:10047115|DOID:865|NCIT:C26912|SCTID:31996006 owl:Class GO:0043264 biolink:NamedThing extracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring outside the cell. tmpte7i6ely_mondo_relaxed.owl extracellular non-membrane-enclosed organelle owl:Class MONDO:0015738 biolink:NamedThing childhood-onset nemaline myopathy Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. tmpte7i6ely_mondo_relaxed.owl mild nemaline myopathy OMIM:161800|OMIM:609285|OMIM:256030|OMIM:609273|ICD10:G71.2|Orphanet:171439|OMIM:609284|GARD:0007171|OMIM:615731 https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy owl:Class GO:0048518 biolink:NamedThing positive regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpte7i6ely_mondo_relaxed.owl up-regulation of biological process|upregulation of biological process|activation of biological process|up regulation of biological process|stimulation of biological process|positive regulation of physiological process owl:Class MONDO:0001691 biolink:NamedThing laryngeal cartilage cancer A malignant neoplasm involving the laryngeal cartilage. tmpte7i6ely_mondo_relaxed.owl cancer of laryngeal cartilage|malignant tumor of laryngeal cartilage|laryngeal cartilage cancer|malignant neoplasm of laryngeal cartilages|malignant neoplasm of laryngeal cartilage|malignant laryngeal cartilage neoplasm ICD9:161.3|UMLS:C0153486|DOID:13348|ICD10:C32.3|SCTID:363431006 owl:Class MONDO:0007888 biolink:NamedThing hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. tmpte7i6ely_mondo_relaxed.owl LRCC|familial multiple cutaneous leiomyomas|multiple cutaneous leiomyomata|leiomyomatosis familial|leiomyoma, multiple cutaneous|familial leiomyomatosis cutis et uteri|leiomyomatosis and renal cell cancer, hereditary|hereditary leiomyomatosis|multiple cutaneous and uterine leiomyomata|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|HLRCC|multiple cutaneous and uterine leiomyomas|hereditary leiomyomatosis and renal cell cancer syndrome|hereditary leiomyomatosis with renal carcinoma|Reed syndrome|hereditary leiomyomatosis and renal cell carcinoma|MCUL|familial leiomyomatosis with renal carcinoma|hereditary leiomyomatosis and renal cell cancer|Reed's syndrome|familial leiomyomatosis|hereditary multiple cutaneous leiomyomas|familial leiomyomatosis and renal cell cancer GARD:0010096|UMLS:C1708350|UMLS:CN073087|ICD10:C64|MESH:C535516|OMIM:150800|NCIT:C51302|GARD:0003218|Orphanet:523|UMLS:CN239164 https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer owl:Class MONDO:0003291 biolink:NamedThing leiomyoma cutis A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl zone of skin leiomyoma|leiomyoma of the skin|leiomyoma cutis|skin leiomyoma|leiomyoma of skin|cutaneous (skin) leiomyoma|cutaneous leiomyoma|leiomyoma of zone of skin NCIT:C4482|UMLS:C0346064|DOID:5132|SCTID:254767008 owl:Class MONDO:0017604 biolink:NamedThing marginal zone lymphoma A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. tmpte7i6ely_mondo_relaxed.owl marginal zone B-cell lymphoma|marginal zone lymphoma|marginal zone B cell lymphoma|MZBCL|MZL|lymphoma of marginal zone B cell EFO:1000630|UMLS:C1367654|GARD:0013237|NCIT:C4341|ONCOTREE:MZL|Orphanet:300912|UMLS:C0242647|DOID:0050748|SCTID:447100004|ICDO:9699/3 owl:Class GO:1901863 biolink:NamedThing positive regulation of muscle tissue development Any process that activates or increases the frequency, rate or extent of muscle tissue development. tmpte7i6ely_mondo_relaxed.owl activation of muscle tissue development|up-regulation of muscle tissue development|up regulation of muscle tissue development|upregulation of muscle tissue development owl:Class HGNC:1848 biolink:NamedThing CEL tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001273 biolink:NamedThing Abnormal corpus callosum morphology Abnormality of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl Abnormal corpus callosum|Corpus callosum abnormality|Abnormality of the corpus callosum UMLS:C1842581 The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. HP:0007323 human_phenotype owl:Class HP:0002500 biolink:NamedThing Abnormal cerebral white matter morphology An abnormality of the cerebral white matter. tmpte7i6ely_mondo_relaxed.owl Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|Abnormality of the cerebral white matter|White matter abnormalities|Abnormality of subcortical white matter|Leukoaraiosis|White matter alterations MSH:D049292|UMLS:C4020851|UMLS:C0948163 This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. HP:0200100 human_phenotype owl:Class CHEBI:63161 biolink:NamedThing glycosyl compound A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity. tmpte7i6ely_mondo_relaxed.owl glycosyl compounds owl:Class CHEBI:63299 biolink:NamedThing carbohydrate derivative Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. tmpte7i6ely_mondo_relaxed.owl derivatised carbohydrates|derivatized carbohydrate|carbohydrate derivatives|derivatised carbohydrate|derivatized carbohydrates owl:Class MONDO:0024868 biolink:NamedThing metastatic carcinoma in the adrenal medulla A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. tmpte7i6ely_mondo_relaxed.owl metastatic carcinoma in the adrenal medulla|metastatic carcinoma to the adrenal medulla NCIT:C9276|UMLS:C1334717 owl:Class MONDO:0004202 biolink:NamedThing adrenal medulla carcinoma A carcinoma that arises from epithelial cells of the adrenal medulla tmpte7i6ely_mondo_relaxed.owl adrenal medulla carcinoma|carcinoma of adrenal medulla NCIT:C9276|UMLS:C1334717|DOID:7379 owl:Class CL:0002537 biolink:NamedThing amnion mesenchymal stem cell A mesenchymal stem cell of the amnion membrane. tmpte7i6ely_mondo_relaxed.owl amniotic membrane stem cell tmeehan 2011-02-28T12:44:24Z cell owl:Class MONDO:0014543 biolink:NamedThing congenital myasthenic syndrome 14 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene. tmpte7i6ely_mondo_relaxed.owl CMSTA3|congenital myasthenic syndrome 14, with tubular aggregates|myasthenic syndrome, congenital, 14|congenital myasthenic syndrome 14|CMS14|myasthenic syndrome, congenital, type 14|congenital myasthenic syndrome type 14|congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2|ALG2 congenital myasthenic syndromes with glycosylation defect|myasthenic syndrome, congenital, with tubular aggregates 3|congenital myasthenic syndrome with tubular aggregates 3 Orphanet:353327|DOID:0110669|Orphanet:590|UMLS:C4015597|OMIM:616228 owl:Class MONDO:0014160 biolink:NamedThing TCR-alpha-beta-positive T-cell deficiency A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta. tmpte7i6ely_mondo_relaxed.owl IMD7|immunodeficiency 7|immunodeficiency 7, TCR-alpha/beta deficient|TCR-Alpha/Beta deficiency|T-cell receptor-ALPHA/BETA deficiency|TCR-alpha-beta+ T-cell deficiency ICD10:D84.8|UMLS:C3809332|Orphanet:397959|OMIM:615387|DOID:0111977 owl:Class MONDO:0018814 biolink:NamedThing non-SCID combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl non-severe combined immunodeficiency|non-SCID Orphanet:480549 https://github.com/monarch-initiative/mondo/issues/711 owl:Class MONDO:0017792 biolink:NamedThing 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. tmpte7i6ely_mondo_relaxed.owl trisomy 7p22.1|dup(7)(p22.1) Orphanet:314034|UMLS:CN203742|ICD10:Q92.3|SCTID:764703002 owl:Class MONDO:0003579 biolink:NamedThing retinal nerve fibre layer disorder A disease that involves the nerve fiber layer of retina. tmpte7i6ely_mondo_relaxed.owl nerve fibre bundle defect|disease of nerve fiber layer of retina|nerve fiber layer of retina disease or disorder|retinal nerve fiber bundle deficiency|retinal nerve fiber bundle defects|nerve fiber layer of retina disease|disorder of nerve fiber layer of retina|disease or disorder of nerve fiber layer of retina DOID:5678|SCTID:193428001|UMLS:C3665426|ICD9:362.85 owl:Class MONDO:0002367 biolink:NamedThing kidney cancer Primary or metastatic malignant neoplasm involving the kidney. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the kidney|malignant tumor of kidney|malignant neoplasm of kidney except pelvis|malignant neoplasm of kidney|malignant tumor of the kidney|malignant kidney tumor|kidney cancer|cancer of kidney|malignant renal tumor|malignant tumour of kidney|malignant renal neoplasm|malignant kidney neoplasm DOID:263|MESH:D007680|NCIT:C3150|ICD10:C64|SCTID:126880001|UMLS:CN881103|NCIT:C7548|ICD9:189.0|SCTID:363518003 owl:Class MONDO:0021163 biolink:NamedThing kidney neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. tmpte7i6ely_mondo_relaxed.owl renal neoplasm|kidney neoplasm|kidney tumor|neoplasm of the kidney|kidney neoplasm (disease)|renal tumors|neoplasm of kidney|tumor of the kidney|renal tumor|tumor of kidney ONCOTREE:KIDNEY|NCIT:C3150|SCTID:126880001|ICD9:239.5 owl:Class MONDO:0005766 biolink:NamedThing fungal lung infectious disease Pulmonary diseases caused by fungal infections, usually through hematogenous spread. tmpte7i6ely_mondo_relaxed.owl fungal infections, pulmonary|Fungi lung disease|fungal infection, pulmonary|fungal disease, pulmonary|Fungi caused lung disease|fungal lung disease|pulmonary fungal disease|pulmonary fungal infection|pulmonary fungal diseases|fungal lung diseases|lung disease, fungal|pulmonary fungal infections|fungal diseases, pulmonary MESH:D008172|UMLS:C0024116|EFO:0007278 owl:Class MONDO:0002041 biolink:NamedThing fungal infectious disease An infection caused by a fungus. tmpte7i6ely_mondo_relaxed.owl Fungi disease or disorder|Fungi infection|mycosis|Fungi infectious disease|fungal infection|Fungi caused disease or disorder|mycoses|infection, fungal|infections, Fungi SCTID:3218000|MESH:D009181|DOID:1564|ICD10:B35-B49|ICD9:117.9|ICD9:110-118.99|NCIT:C3245|ICD10:B49|ICD10:B35.B49 owl:Class OBO:CHR_9606-chr9 biolink:NamedThing chromosome 9 (Human) tmpte7i6ely_mondo_relaxed.owl 9 138394717 0 hg38 owl:Class GO:0005694 biolink:NamedThing chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpte7i6ely_mondo_relaxed.owl prophase chromosome|chromatid|interphase chromosome owl:Class MONDO:0008280 biolink:NamedThing Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. tmpte7i6ely_mondo_relaxed.owl polyps-and-Spots syndrome|Peutz-Jeghers syndrome|lentiginosis, perioral|gastric Peutz-Jeghers polyp|Jeghers-Peutz syndrome|colonic hamartomatous polyp|Peutz's syndrome|Peutz-Jeghers small bowel hamartoma|hamartomatous intestinal polyposis|Peutz-Jeghers polyp of small intestine|polyposis, hamartomatous intestinal|Peutz Jeghers polyposis|polyps and spots syndrome|PJS|periorificial lentiginosis syndrome|Peutz Jeghers colon polyp Orphanet:2869|UMLS:C1333088|GARD:0007378|UMLS:C0031269|MedDRA:10034764|ICD9:759.6|NCIT:C3324|SCTID:54411001|OMIM:175200|DOID:3852|MESH:D010580|ICD10:Q85.8 https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome owl:Class MONDO:0017128 biolink:NamedThing inherited digestive tract tumor tmpte7i6ely_mondo_relaxed.owl genetic digestive tract tumor Orphanet:271835|UMLS:CN202527 owl:Class GO:0006544 biolink:NamedThing glycine metabolic process The chemical reactions and pathways involving glycine, aminoethanoic acid. tmpte7i6ely_mondo_relaxed.owl glycine metabolism owl:Class GO:0009069 biolink:NamedThing serine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpte7i6ely_mondo_relaxed.owl serine family amino acid metabolism owl:Class MONDO:0001503 biolink:NamedThing primary eye hypotony tmpte7i6ely_mondo_relaxed.owl primary hypotony of eye ICD9:360.31|UMLS:C0154782|DOID:12349|SCTID:2251002|ICD10:H44.44 owl:Class MONDO:0004390 biolink:NamedThing ocular hypotension Abnormally low intraocular pressure often related to chronic inflammation (uveitis). tmpte7i6ely_mondo_relaxed.owl hypotony of eye ICD10:H44.40|ICD10:H44.4|UMLS:C0028841|SCTID:19721008|DOID:790|ICD9:360.3|ICD9:360.30|MESH:D015814 owl:Class MONDO:0018661 biolink:NamedThing Zika virus infectious disease Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. tmpte7i6ely_mondo_relaxed.owl Zika virus disease or disorder|congenital Zika virus infection|Zika virus caused disease or disorder|Zika|Zika virus disease|ZikV infection|Zika fever|Zika virus infection|fever, Zika|congenital Zika syndrome|Zika virus infectious disease NCIT:C128423|ICD10:A92.5|ICD10:A92.8|DOID:0060478|Orphanet:448237|UMLS:CN237724|SCTID:3928002|GARD:0012894|UMLS:C0276289|MESH:D000071243|ICD10:U06 owl:Class MONDO:0005763 biolink:NamedThing Flaviviridae infectious disease Infections with viruses of the family flaviviridae. tmpte7i6ely_mondo_relaxed.owl Flaviviridae disease or disorder|Flaviviridae caused disease or disorder MESH:D018178|EFO:0007274|SCTID:111865007 owl:Class MONDO:0010464 biolink:NamedThing X-linked cerebral-cerebellar-coloboma syndrome syndrome X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. tmpte7i6ely_mondo_relaxed.owl cerebral-cerebellar-coloboma syndrome, X-linked|X-linked intellectual disability, Kroes type|X-linked cerebral-cerebellar-coloboma syndrome UMLS:C3275487|Orphanet:163961|ICD10:Q87.8|OMIM:300864 owl:Class MONDO:0020022 biolink:NamedThing central nervous system malformation tmpte7i6ely_mondo_relaxed.owl MESH:D009421|Orphanet:98044 owl:Class MONDO:0030134 biolink:NamedThing oculopharyngodistal myopathy 2 tmpte7i6ely_mondo_relaxed.owl OCULOPHARYNGODISTAL MYOPATHY 2|oculopharyngodistal myopathy 2|OPDM2 OMIM:618940 owl:Class MONDO:0025193 biolink:NamedThing oculopharyngodistal myopathy Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown. tmpte7i6ely_mondo_relaxed.owl oculopharyngeal distal myopathy|oculopharyngodistal myopathy|OPDM|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement GARD:0012592|SCTID:763829004|ICD10:G71.0|UMLS:C1834014|OMIMPS:164310|MESH:C563508|Orphanet:98897 https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy owl:Class GO:0098754 biolink:NamedThing detoxification Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:497 biolink:NamedThing TRPA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016893 biolink:NamedThing partial deletion of the short arm of chromosome 11 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome 11p|partial monosomy of chromosome 11p|partial deletion of the short arm of chromosome type 11|partial monosomy of the short arm of chromosome 11 Orphanet:261947|ICD10:Q93.5 owl:Class MONDO:0042966 biolink:NamedThing inherited mitral valve disease An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl congenital anomaly of mitral valve|congenital mitral valve abnormality|congenital malformation of mitral valve|hereditary mitral valve disease SCTID:75372006 owl:Class MONDO:0009665 biolink:NamedThing biotinidase deficiency Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. tmpte7i6ely_mondo_relaxed.owl deficiency of biotinidase|juvenile-onset multiple carboxylase deficiency|late-onset multiple carboxylase deficiency|BTD deficiency|multiple carboxylase deficiency, juvenile-onset|late-onset biotin-responsive multiple carboxylase deficiency|biotin deficiency|multiple carboxylase deficiency, late-onset|biotinidase deficiency OMIM:253260|ICD10:E53.8|SCTID:8808004|UMLS:C0220754|ICD10:D81.810|UMLS:CN043572|DOID:856|ICD9:277.6|Orphanet:79241|GARD:0000894|MedDRA:10071434|NCIT:C84598|MESH:D028921 owl:Class MONDO:0017760 biolink:NamedThing disorder of other vitamins and cofactors metabolism and transport tmpte7i6ely_mondo_relaxed.owl Orphanet:309833|UMLS:CN227204 owl:Class MONDO:0016249 biolink:NamedThing hereditary site-specific ovarian cancer syndrome Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. tmpte7i6ely_mondo_relaxed.owl Orphanet:213524|ICD10:C56|UMLS:CN201037 owl:Class MONDO:0016248 biolink:NamedThing familial ovarian cancer An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary ovarian cancer|familial ovarian cancer|familial ovarian malignant tumor Orphanet:213517|UMLS:CN201036|ICD10:C56 owl:Class GO:0007267 biolink:NamedThing cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. tmpte7i6ely_mondo_relaxed.owl cell-cell signalling owl:Class GO:0007154 biolink:NamedThing cell communication Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008703 biolink:NamedThing acromesomelic dysplasia 2A An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. tmpte7i6ely_mondo_relaxed.owl Grebe syndrome|Langer-Saldino achondrogenesis|AMDG|type II achondrogenesis|achondrogenesis type II (formerly)|GREBE chondrodysplasia|Brazilian achondrogenesis|Grebe dysplasia|achondrogenesis, type II|achondrogenesis, type II, formerly|acromesomelic dysplasia, Grebe type|hypochondrogenesis|Grebe chondrodysplasia|chondrodysplasia, Grebe type|achondrogenesis, Brazilian OMIM:609441|ICD10:Q78.8|UMLS:C0265260|GARD:0001300|NCIT:C3816|Orphanet:2098|OMIM:200700|DOID:0080052 owl:Class GO:0045912 biolink:NamedThing negative regulation of carbohydrate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpte7i6ely_mondo_relaxed.owl downregulation of carbohydrate metabolic process|inhibition of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process|negative regulation of carbohydrate metabolism|down regulation of carbohydrate metabolic process owl:Class GO:0009892 biolink:NamedThing negative regulation of metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpte7i6ely_mondo_relaxed.owl negative regulation of organismal metabolism|negative regulation of metabolism|down-regulation of metabolic process|inhibition of organismal metabolic process|downregulation of metabolic process|inhibition of metabolic process|negative regulation of multicellular organismal metabolic process|down regulation of metabolic process owl:Class UBERON:0004220 biolink:NamedThing large intestine smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010486 biolink:NamedThing Olmsted syndrome, X-linked tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked|Olmsted syndrome, X-linked OMIM:300918|UMLS:C3806745|Orphanet:659 owl:Class MONDO:0031421 biolink:NamedThing Olmsted syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:614594 http://orcid.org/0000-0001-5208-3432 owl:Class GO:1901715 biolink:NamedThing regulation of gamma-aminobutyric acid catabolic process Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of 4-aminobutanoate catabolic process|regulation of gamma-aminobutyric acid degradation|regulation of GABA catabolic process|regulation of gamma-aminobutyric acid catabolism|regulation of gamma-aminobutyric acid breakdown|regulation of 4-aminobutanoate catabolism|regulation of 4-aminobutyrate catabolic process|regulation of GABA catabolism|regulation of 4-aminobutyrate catabolism owl:Class MONDO:0010610 biolink:NamedThing holoprosencephaly-hypokinesia-congenital contractures syndrome An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl Morse-Rawnsley-Sargent syndrome|holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome|holoprosencephaly with fetal akinesia/hypokinesia sequence Orphanet:2570|ICD10:Q04.2|MESH:C564409|SCTID:716169009|GARD:0003788|OMIM:306990 owl:Class MONDO:0009451 biolink:NamedThing Nezelof syndrome tmpte7i6ely_mondo_relaxed.owl thymic aplasia|T-lymphocyte deficiency|immune defect due to absence of THYMUS|Nezelof's syndrome|immune defect due to absence Of Thymus|Nezelof syndrome SCTID:55602000|DOID:2012|MESH:C536288|Orphanet:83471|ICD10:D81.4|UMLS:CN206066|ICD9:279.13|GARD:0007201|OMIM:242700 owl:Class MONDO:0001222 biolink:NamedThing congenital T-cell immunodeficiency A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. tmpte7i6ely_mondo_relaxed.owl congenital T-cell immunodeficiency|T cell deficiency NCIT:C27872|DOID:11200|UMLS:C1333147 owl:Class MONDO:0030502 biolink:NamedThing tetrasomy A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. tmpte7i6ely_mondo_relaxed.owl tetrasomy NCIT:C36601|MESH:D058670|EFO:1001297 owl:Class MONDO:0700064 biolink:NamedThing aneuploidy A chromosomal abnormality in which there is an addition or loss of chromosomes within a set. tmpte7i6ely_mondo_relaxed.owl chromosome number anomaly NCIT:C2873 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0019025 biolink:NamedThing extracutaneous mastocytoma A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003 tmpte7i6ely_mondo_relaxed.owl extracutaneous mastocytoma Orphanet:66662|ICDO:9740/1|EFO:1000932|UMLS:C0272202|DOID:4659|NCIT:C7136|SCTID:63175003|ICD10:C96.2 owl:Class MONDO:0016586 biolink:NamedThing systemic mastocytosis Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement. tmpte7i6ely_mondo_relaxed.owl systemic mastocytosis|systemic tissue Mast cell disease|systemic tissue mast cell disease|SM|Agressive systemic mastocytosis|Mast cell disease|systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)|systemic mast cell disease|SMCD - systemic mast cell disease MedDRA:10042949|SCTID:397016004|Orphanet:2467|UMLS:C0221013|ICD10:C96.2|NCIT:C9235|GARD:0008616|DOID:349|ONCOTREE:SM owl:Class MONDO:0016419 biolink:NamedThing hereditary breast carcinoma Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. tmpte7i6ely_mondo_relaxed.owl familial cancer of breast|hereditary breast carcinoma|familial breast carcinoma|familial breast cancer|hereditary breast cancer|familial cancer of the breast|breast cancer, familial|breast cancer, familial Male OMIM:604370|ICD10:C50.4|Orphanet:227535|OMIM:114480|ICD10:C50.6|MESH:C562840|NCIT:C4503|UMLS:C0346153|ICD10:C50.3|ICD10:C50.2|OMIM:612555|ICD10:C50.5|SCTID:254843006|ICD10:C50.0|OMIM:605365|ICD10:C50.8|ICD10:C50.1|OMIM:613399|OMIM:600048 Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84 owl:Class MONDO:0010547 biolink:NamedThing X-linked progressive cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, X-linked 1|spinocerebellar ataxia, X-linked type 1|OPCA, X-linked|SCAX1|olivopontocerebellar atrophy, X-linked OMIM:302500|UMLS:C0796205|Orphanet:1175|MESH:C563134|ICD10:G11.1 owl:Class GO:0120033 biolink:NamedThing negative regulation of plasma membrane bounded cell projection assembly Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0120032 biolink:NamedThing regulation of plasma membrane bounded cell projection assembly Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901617 biolink:NamedThing organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. tmpte7i6ely_mondo_relaxed.owl organic hydroxy compound biosynthesis|organic hydroxy compound anabolism|organic hydroxy compound formation|organic hydroxy compound synthesis owl:Class MONDO:0009853 biolink:NamedThing Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. tmpte7i6ely_mondo_relaxed.owl Gräsbeck-Imerslund disease|familial megaloblastic anemia|juvenile megaloblastic Anemia|defect of enterocyte intrinsic factor receptor|selective cobalamin malabsorption with proteinuria|Imerslund-Grasbeck syndrome|Imerslund-Gräsbeck syndrome|enterocyte cobalamin malabsorption ICD10:D51.1|SCTID:360495000|GARD:0007006|Orphanet:35858|ICD9:281.3|OMIMPS:261100 owl:Class HGNC:11892 biolink:NamedThing TNF tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034766 biolink:NamedThing negative regulation of ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl down regulation of transmembrane ion transport|negative regulation of transmembrane ion transport|inhibition of transmembrane ion transport|down-regulation of transmembrane ion transport|downregulation of transmembrane ion transport|negative regulation of ion membrane transport owl:Class MONDO:0003929 biolink:NamedThing vestibular micropapillomatosis A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. tmpte7i6ely_mondo_relaxed.owl vestibular micropapillomatosis|micropapillomatosis labialis DOID:6569|UMLS:C1519982|NCIT:C40290 owl:Class MONDO:0002194 biolink:NamedThing vestibular papilloma A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. tmpte7i6ely_mondo_relaxed.owl vulvar squamous papilloma|mammalian vulva squamous papilloma|vestibular papilloma DOID:2071|NCIT:C6376|UMLS:C1336982 owl:Class UBERON:0003215 biolink:NamedThing alveolus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002285 biolink:NamedThing lymphocyte activation involved in immune response A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl lymphocyte activation during immune response owl:Class HGNC:11937 biolink:NamedThing CD70 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001092 biolink:NamedThing colon leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl colon leiomyoma|leiomyoma of the colon|leiomyoma of colon|colonic leiomyoma UMLS:C1333092|NCIT:C5492|DOID:10656 owl:Class MONDO:0001572 biolink:NamedThing leiomyoma A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma, benign|leiomyomatous tumor|leiomyomatous neoplasm (morphologic abnormality)|fibroid neoplasm|leiomyoma|fibroid tumor|fibroid|leiomyomatous neoplasm DOID:127|SCTID:146801000119103|ICDO:8890/0|MESH:D007889|ICD9:215.9|UMLS:C0023267|NCIT:C3157 owl:Class MONDO:0005981 biolink:NamedThing tick paralysis Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. tmpte7i6ely_mondo_relaxed.owl MESH:D013985|GARD:0007771|EFO:0007509|SCTID:74225001|UMLS:C0040197|DOID:11285 https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis owl:Class MONDO:0015592 biolink:NamedThing limbic encephalitis with LGI1 antibodies Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. tmpte7i6ely_mondo_relaxed.owl limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies ICD10:G13.1|Orphanet:163908|SCTID:763794005|ICD10:G04.8 owl:Class MONDO:0015594 biolink:NamedThing non-paraneoplastic limbic encephalitis tmpte7i6ely_mondo_relaxed.owl Orphanet:163918 owl:Class UBERON:0000486 biolink:NamedThing multilaminar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035295 biolink:NamedThing left ear tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015835 biolink:NamedThing Bicervical bicornuate uterus and blind hemivagina tmpte7i6ely_mondo_relaxed.owl Orphanet:180106|ICD10:Q51.1 owl:Class MONDO:0015834 biolink:NamedThing didelphys uterus tmpte7i6ely_mondo_relaxed.owl Bicervical bicornuate uterus MedDRA:10012770|ICD10:Q51.1|ICD9:752.2|Orphanet:180086|SCTID:15545001 owl:Class MONDO:0001909 biolink:NamedThing renal tubular acidosis A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. tmpte7i6ely_mondo_relaxed.owl ICD9:588.89|UMLS:C0001126|NCIT:C28129|GARD:0007552|OMIM:602722|OMIM:267200|MESH:D000141|DOID:14219|SCTID:1776003|OMIM:179830|ICD10:N25.89 https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis owl:Class MONDO:0021568 biolink:NamedThing renal tubule disorder A disease that involves the renal tubule. tmpte7i6ely_mondo_relaxed.owl renal tubular disorder|disorder of renal tubule|renal tubule disease|disease or disorder of renal tubule|renal tubule disease or disorder|renal tubular disease|disease of renal tubule UMLS:C0151747|SCTID:95568003|ICD9:588.89 owl:Class CHEBI:26878 biolink:NamedThing tertiary alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. tmpte7i6ely_mondo_relaxed.owl tertiary alcohol|tertiary alcohols owl:Class CHEBI:30879 biolink:NamedThing alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. tmpte7i6ely_mondo_relaxed.owl alcohols|Alcohol|an alcohol owl:Class MONDO:0014923 biolink:NamedThing peeling skin syndrome 5 Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene. tmpte7i6ely_mondo_relaxed.owl peeling skin syndrome 5|peeling skin syndrome 5; PSS5|peeling skin syndrome caused by mutation in SERPINB8|SERPINB8 peeling skin syndrome|peeling skin syndrome type 5|PSS5 OMIM:617115|UMLS:C4310710 owl:Class MONDO:0017339 biolink:NamedThing exfoliative ichthyosis Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. tmpte7i6ely_mondo_relaxed.owl exfoliative ichthyosis|autosomal recessive exfoliative ichthyosis|ichthyosis exfoliativa ICD10:Q80.8|OMIM:607936|OMIM:617115|Orphanet:289586|UMLS:C1838440 owl:Class UBERON:0005866 biolink:NamedThing pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:29337 biolink:NamedThing azanide tmpte7i6ely_mondo_relaxed.owl NH2(-)|dihydridonitrate(1-)|amide|azanide owl:Class CHEBI:79389 biolink:NamedThing monovalent inorganic anion Any inorganic anion with a valency of one. tmpte7i6ely_mondo_relaxed.owl monovalent inorganic anions owl:Class MONDO:0004384 biolink:NamedThing maxillary sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpte7i6ely_mondo_relaxed.owl inverted papilloma of the maxillary sinus|maxillary sinus inverted papilloma|inverted papilloma of maxillary sinus NCIT:C6840|DOID:7868|UMLS:C1334645 owl:Class MONDO:0002537 biolink:NamedThing inverted papilloma An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. tmpte7i6ely_mondo_relaxed.owl inverted papilloma, squamous cell|inverted papilloma NCIT:C3793|DOID:3179|MESH:D018308|UMLS:C0206721|ICD9:212.0|SCTID:104081000119103 owl:Class MONDO:0014005 biolink:NamedThing immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. tmpte7i6ely_mondo_relaxed.owl immune Complex mediated membranoproliferative glomerulonephritis|Ig-mediated MPGN|membranoproliferative glomerulonephritis type I|Ig-mediated membranoproliferative glomerulonephritis|Immunoglobulin-mediated MPGN|NPHS7|Ahus, susceptibility to, 7|immunoglobulin-mediated membranoproliferative glomerulonephritis|hemolytic uremic syndrome, atypical, susceptibility to, 7|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Mesangiocapillary glomerulonephritis type 1|nephrotic syndrome, type 7 ICD10:N00.5|Orphanet:54370|OMIM:615008|Orphanet:357008|Orphanet:2134|Orphanet:329903|NCIT:C123055 owl:Class MONDO:0005334 biolink:NamedThing hereditary nephritis A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. tmpte7i6ely_mondo_relaxed.owl familial nephritis|nephritis, familial|hereditary nephritis SCTID:399340005|EFO:0004128|MESH:D009394 owl:Class HP:0100533 biolink:NamedThing Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. tmpte7i6ely_mondo_relaxed.owl Inflammatory abnormality of the eye|Ocular inflammation UMLS:C4020969 doelkens 2010-12-20T03:53:42Z HP:0007891 human_phenotype owl:Class HP:0012373 biolink:NamedThing Abnormal eye physiology A functional anomaly of the eye. tmpte7i6ely_mondo_relaxed.owl Abnormal eye physiology UMLS:C4022924 peter 2013-10-13T03:45:37Z human_phenotype owl:Class MONDO:0004885 biolink:NamedThing choroidal sclerosis A neurodegenerative disease that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl neurodegenerative disease of optic choroid|choroidal degenerations|optic choroid neurodegenerative disease ICD9:363.4|ICD9:363.40|ICD10:H31.1|MESH:C535358|ICD10:H31.10|OMIM:215500|SCTID:406446000|DOID:980 owl:Class MONDO:0005559 biolink:NamedThing neurodegenerative disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. tmpte7i6ely_mondo_relaxed.owl cerebral degeneration disease|neurodegenerative disease|central nervous system degenerative disorder|central nervous system neurodegenerative disorder|degenerative disorder of central nervous system|degenerative disease|brain degeneration NCIT:C27090|SCTID:362975008|UMLS:C1285162|NCIT:C4802|EFO:0005772|SCTID:80690008|MESH:D019636|ICD9:349.89|ICD10:G31.9|DOID:1289 Editor notes: DO treats this as two diseases owl:Class MONDO:0015212 biolink:NamedThing syndromic intestinal malformation A intestinal malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic intestinal malformation|syndrome associated with intestinal malformation UMLS:CN226629|Orphanet:108969 owl:Class MONDO:0019999 biolink:NamedThing intestinal malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:97945 owl:Class MONDO:0044621 biolink:NamedThing 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. tmpte7i6ely_mondo_relaxed.owl tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3 Orphanet:485405 owl:Class MONDO:0700091 biolink:NamedThing ring chromosome disorder Chromosomal anomaly consisting of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. tmpte7i6ely_mondo_relaxed.owl supernumerary circular chromosome UMLS:C0035639|MESH:D012303|NCIT:C3360 http://orcid.org/0000-0002-4142-7153 owl:Class HP:0002815 biolink:NamedThing Abnormality of the knee An abnormality of the knee joint or surrounding structures. tmpte7i6ely_mondo_relaxed.owl Abnormality of the knee UMLS:C4025676 human_phenotype owl:Class HP:0100491 biolink:NamedThing Abnormality of lower limb joint tmpte7i6ely_mondo_relaxed.owl Abnormality of lower limb joint|Abnormality of the joints of the lower limbs UMLS:C4020971 doelkens 2010-12-14T10:58:11Z HP:0100239 human_phenotype owl:Class MONDO:0018842 biolink:NamedThing primary effusion lymphoma Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). tmpte7i6ely_mondo_relaxed.owl body cavity-based lymphoma|primary Effusion Lymphoma|PEL|AIDS-related lymphoma UMLS:C1292753|ONCOTREE:PEL|Orphanet:48686|SCTID:713516007|ICD10:C83.8|ICD9:202.80|NCIT:C6915|MedDRA:10065857|GARD:0009247|EFO:1000491|MESH:D054685|ICDO:9678/3 https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma owl:Class MONDO:0021531 biolink:NamedThing fibroma of lung A fibroma that involves the lung. tmpte7i6ely_mondo_relaxed.owl fibroma of the lung|pulmonary fibroma|lung fibroma NCIT:C5658|SCTID:707387004|UMLS:C1334444 owl:Class MONDO:0021117 biolink:NamedThing lung neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. tmpte7i6ely_mondo_relaxed.owl neoplasms, pulmonary|lung tumor|lung neoplasm|lung|neoplasm of lung|neoplasm, lung|neoplasms, lung|tumor of lung|tumor of the lung|neoplasm of the lung|lung neoplasms|neoplasm, pulmonary|lung neoplasm (disease) MESH:D008175|ONCOTREE:LUNG|NCIT:C3200 owl:Class MONDO:0012167 biolink:NamedThing atrial fibrillation, familial, 2 tmpte7i6ely_mondo_relaxed.owl ATFB2|atrial fibrillation, familial, 2 Orphanet:334|MESH:C563903|UMLS:C1837812|OMIM:608988 owl:Class MONDO:0007269 biolink:NamedThing dilated cardiomyopathy 1A Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial idiopathic|CDCD1|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, type 1A|cardiomyopathy, congestive|dilated cardiomyopathy type 1A|LMNA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1A|dilated cardiomyopathy 1A|familial isolated dilated cardiomyopathy caused by mutation in LMNA|cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, dilated, with conduction defect 1|dilated cardiomyopathy with conduction defect 1|familial dilated cardiomyopathy with conduction defect due to LMNA mutation ICD10:I42.0|DOID:0110425|OMIM:115200|GARD:0001104|SCTID:766883006|UMLS:C1449563|Orphanet:300751 https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1 owl:Class MONDO:0100479 biolink:NamedThing rifampicin-resistant tuberculosis A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications. tmpte7i6ely_mondo_relaxed.owl RR-TB|rifampicin-resistant TB http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0041806 biolink:NamedThing drug-resistant tuberculosis Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications. tmpte7i6ely_mondo_relaxed.owl drug resistant tuberculosis SCTID:423709000 owl:Class UBERON:0005686 biolink:NamedThing caecum dorsal mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002296 biolink:NamedThing dorsal mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056796 biolink:NamedThing obstructive nephropathy Renal damage and impaired renal function secondary to urinary tract obstruction. tmpte7i6ely_mondo_relaxed.owl congenital obstructive nephropathy|obstructive nephropathy UMLS:C0149939|SCTID:86249007|DOID:0070314|ICD9:593.89|NCIT:C120902 owl:Class UBERON:0010009 biolink:NamedThing aggregate regional part of brain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034923 biolink:NamedThing disconnected anatomical group tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007646 biolink:NamedThing Gamstorp-Wohlfart syndrome Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. tmpte7i6ely_mondo_relaxed.owl NMAN|ARCMT2-NM|neuromyotonia and axonal neuropathy, autosomal recessive|myokymia, myotonia and muscle wasting|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|autosomal recessive axonal neuropathy with neuromyotonia|Gamstorp-Wohlfart syndrome|ARAN-NM|autosomal recessive neuromyotonia and axonal neuropathy|myokymia, myotonia, and muscle wasting ICD10:G60.0|DOID:0050526|UMLS:CN074193|OMIM:137200|SCTID:711406009|Orphanet:324442|GARD:0012353 owl:Class MONDO:0008310 biolink:NamedThing Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). tmpte7i6ely_mondo_relaxed.owl HGPS|Hutchinson-Gilford progeria syndrome|Hutchinson-Gilford disease|progeria syndrome, childhood-onset|progeria|premature senility syndrome|Hutchinson Gilford progeria syndrome|Hutchinson Gilford syndrome UMLS:C0033300|MESH:D011371|UMLS:CN236401|MedDRA:10036794|OMIM:176670|DOID:3911|ICD10:E34.8|NCIT:C34951|ICD9:259.8|GARD:0007467|SCTID:238870004|Orphanet:740 Editor note: check wether subset prototype_pattern is appropriate https://rarediseases.info.nih.gov/diseases/7467/progeria owl:Class MONDO:0021106 biolink:NamedThing laminopathy A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. tmpte7i6ely_mondo_relaxed.owl UMLS:CN236383|Orphanet:98301 owl:Class GO:0002883 biolink:NamedThing regulation of hypersensitivity Any process that modulates the frequency, rate, or extent of hypersensitivity. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0017119 biolink:NamedThing Golgi transport complex A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8. tmpte7i6ely_mondo_relaxed.owl COG complex|conserved oligomeric Golgi complex|Sec34/35 complex owl:Class GO:0099023 biolink:NamedThing vesicle tethering complex Any protein complex that plays a role in vesicle tethering. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045723 biolink:NamedThing positive regulation of fatty acid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. tmpte7i6ely_mondo_relaxed.owl positive regulation of fatty acid biosynthesis|stimulation of fatty acid biosynthetic process|upregulation of fatty acid biosynthetic process|activation of fatty acid biosynthetic process|positive regulation of fatty acid synthesis|up-regulation of fatty acid biosynthetic process|positive regulation of fatty acid formation|up regulation of fatty acid biosynthetic process|positive regulation of fatty acid anabolism owl:Class GO:0046889 biolink:NamedThing positive regulation of lipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpte7i6ely_mondo_relaxed.owl positive regulation of lipogenesis|positive regulation of lipid biosynthesis|upregulation of lipid biosynthetic process|positive regulation of lipid anabolism|positive regulation of lipid formation|positive regulation of lipid synthesis|up regulation of lipid biosynthetic process|activation of lipid biosynthetic process|up-regulation of lipid biosynthetic process|stimulation of lipid biosynthetic process owl:Class MONDO:0008247 biolink:NamedThing robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl Pierre Robin sequence-oligodactyly syndrome|Robin sequence and oligodactyly|Pierre Robin syndrome and oligodactyly UMLS:C1868309|MESH:C535688|ICD10:Q87.0|GARD:0004729|Orphanet:3104|OMIM:172880 owl:Class UBERON:0003220 biolink:NamedThing metanephric mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021467 biolink:NamedThing benign neoplasm of renal pelvis A benign neoplasm that involves the renal pelvis. tmpte7i6ely_mondo_relaxed.owl benign kidney pelvis neoplasm|benign renal pelvis tumor|benign tumor of renal pelvis|benign neoplasm of the renal pelvis|benign renal pelvis neoplasm|renal pelvis benign neoplasm|benign tumor of the renal pelvis SCTID:92319008|UMLS:C0154015|ICD9:223.1|NCIT:C3616|EFO:1000118 owl:Class MONDO:0003719 biolink:NamedThing renal pelvis neoplasm A neoplasm (disease) that involves the renal pelvis. tmpte7i6ely_mondo_relaxed.owl neoplasm of renal pelvis|tumor of the renal pelvis|neoplasm of the kidney pelvis|renal pelvis neoplasm|neoplasm of the renal pelvis|tumor of renal pelvis|tumor of kidney pelvis|neoplasm of kidney pelvis|kidney pelvis tumor|renal pelvis neoplasm (disease)|kidney pelvis neoplasm|tumor of the kidney pelvis|renal pelvis tumor ICD9:239.5|NCIT:C8404|SCTID:126881002|DOID:5977|UMLS:C0346260 owl:Class MONDO:0005100 biolink:NamedThing systemic sclerosis A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. tmpte7i6ely_mondo_relaxed.owl Scleroderma, diffuse|systemic Scleroderma|SSc|diffuse Scleroderma|Scleroderma syndrome|SSc, diffuse sclerosis|Scleroderma (& [systemic sclerosis])|progressive systemic sclerosis|PSS (progressive systemic sclerosis)|Scleroderma|systemic scleroderma|systemic sclerosis|diffuse sclerosis|Scleroderma, systemic ICD10:M34.8|NCIT:C72070|UMLS:CN206012|ICD10:M34.1|Orphanet:90291|ICD10:M34.0|EFO:0000717|ICD9:710.1|MedDRA:10042953|GARD:0009748|DOID:418|MESH:D012595|OMIM:181750|SCTID:89155008|ICD10:M34.9|ICD10:M34.2 owl:Class MONDO:0016345 biolink:NamedThing non-familial restrictive cardiomyopathy tmpte7i6ely_mondo_relaxed.owl UMLS:CN226908|Orphanet:217720|EFO:1001473 owl:Class GO:0032229 biolink:NamedThing negative regulation of synaptic transmission, GABAergic Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpte7i6ely_mondo_relaxed.owl inhibition of synaptic transmission, GABAergic|down regulation of synaptic transmission, GABAergic|downregulation of synaptic transmission, GABAergic|down-regulation of synaptic transmission, GABAergic owl:Class GO:0032228 biolink:NamedThing regulation of synaptic transmission, GABAergic Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012433 biolink:NamedThing Senior-Loken syndrome 6 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpte7i6ely_mondo_relaxed.owl CEP290 Senior-Loken syndrome|SENIOR-Loken syndrome 6|Senior-Loken syndrome type 6|Senior-Loken syndrome 6|Senior-Loken syndrome caused by mutation in CEP290|SLSN6 OMIM:610189|UMLS:C1857779|MESH:C565708|Orphanet:3156 owl:Class MONDO:0017842 biolink:NamedThing Senior-Loken syndrome Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. tmpte7i6ely_mondo_relaxed.owl SLSN|renal-retinal syndrome|renal dysplasia retinal aplasia|Senior Loken syndrome|nephronophthisis with retinal dystrophy|Loken Senior syndrome|renal dysplasia-retinal aplasia syndrome OMIM:606996|MESH:C537580|DOID:0050576|OMIM:609254|OMIM:266900|OMIM:606995|OMIM:614845|OMIM:610189|ICD10:Q61.5|Orphanet:3156|GARD:0000322|UMLS:CN117960|OMIM:613615|OMIMPS:266900|OMIM:616629|OMIM:616307 owl:Class MONDO:0020020 biolink:NamedThing visceral malformation of the liver, biliary tract, pancreas or spleen tmpte7i6ely_mondo_relaxed.owl Orphanet:98041 owl:Class MONDO:0018682 biolink:NamedThing congenital insensitivity to pain with severe intellectual disability tmpte7i6ely_mondo_relaxed.owl congenital insensitivity to pain with preserved temperature sensation|congenital analgesia with severe intellectual disability|congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay Orphanet:453510 owl:Class MONDO:0018857 biolink:NamedThing creeping myiasis tmpte7i6ely_mondo_relaxed.owl migratory myiasis SCTID:417441005|Orphanet:504|ICD10:B87.0|UMLS:C1562462|GARD:0001609|MedDRA:10059547 https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis owl:Class MONDO:0020568 biolink:NamedThing cutaneous myiasis tmpte7i6ely_mondo_relaxed.owl Orphanet:99983|SCTID:240877000|UMLS:C0027031|ICD10:B87.0 owl:Class MONDO:0008498 biolink:NamedThing strabismus, susceptibility to tmpte7i6ely_mondo_relaxed.owl strabismus, susceptibility to, 1|strabismus, susceptibility to OMIM:185100|UMLS:C1861449 owl:Class UBERON:0004327 biolink:NamedThing middle phalanx of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003863 biolink:NamedThing pedal digit 5 phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044782 biolink:NamedThing esophageal ulcer An ulcerated lesion in the esophageal wall. tmpte7i6ely_mondo_relaxed.owl esophagus ulcer|ulcer disease of esophagus|esophagus ulcer disease|esophageal ulcer NCIT:C26950|HP:0004791 owl:Class MONDO:0005715 biolink:NamedThing congenital toxoplasmosis Toxoplasma infection that is present from birth. tmpte7i6ely_mondo_relaxed.owl Toxoplasma embryofetopathy|toxoplasmosis - congen.|congenital toxoplasmosis|mother-to-child transmission of toxoplasmosis|Toxoplasma embryopathy|toxoplasmosis, congenital EFO:0007220|ICD10:P37.1|SCTID:73893000|Orphanet:858|UMLS:C0040560|NCIT:C50503|GARD:0010326|ICD9:771.2|MESH:D014125|MedDRA:10010652|DOID:13336 owl:Class MONDO:0016511 biolink:NamedThing infectious embryofetopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:232035 owl:Class ENVO:01001311 biolink:NamedThing solid surface layer A surface layer which is composed primarily of solid environmental material. tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:MF_0000031 biolink:NamedThing cognitive representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. tmpte7i6ely_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class OBO:MF_0000030 biolink:NamedThing representation A dependent continuant which is about a portion of reality. tmpte7i6ely_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class CHEBI:64047 biolink:NamedThing food additive Any substance which is added to food to preserve or enhance its flavour and/or appearance. tmpte7i6ely_mondo_relaxed.owl food additives owl:Class CHEBI:78295 biolink:NamedThing food component Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants.|A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. tmpte7i6ely_mondo_relaxed.owl dietary components|food components|dietary component owl:Class MONDO:0001884 biolink:NamedThing abducens nerve neoplasm A neoplasm involving a abducens nerve. tmpte7i6ely_mondo_relaxed.owl tumor of sixth cranial nerve|tumor of abducens nerve|neoplasm of abducens nerve|neoplasm of sixth cranial nerve|tumor of the sixth cranial nerve|abducens nerve neoplasm (disease)|neoplasm of the abducens nerve|tumor of the abducens nerve|abducens nerve neoplasms|sixth cranial nerve neoplasms|abducens nerve tumors|VIth cranial nerve neoplasms|sixth cranial nerve tumors|sixth cranial nerve tumor|neoplasm of the sixth cranial nerve|abducens nerve tumor|sixth cranial nerve neoplasm|VIth cranial nerve tumors ICD9:239.7|NCIT:C5826|SCTID:126972009|DOID:14125|UMLS:C1263898 owl:Class ENVO:09200014 biolink:NamedThing temperature of water The temperature of some water. tmpte7i6ely_mondo_relaxed.owl water temperature owl:Class PATO:0000146 biolink:NamedThing temperature A physical quality of the thermal energy of a system. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6902 biolink:NamedThing MASP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011361 biolink:NamedThing prostate cancer/brain cancer susceptibility tmpte7i6ely_mondo_relaxed.owl prostate cancer/brain cancer susceptibility|Capb|Pcbc OMIM:603688 owl:Class MONDO:0004501 biolink:NamedThing fallopian tube cystadenofibroma A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. tmpte7i6ely_mondo_relaxed.owl fallopian tube serous cystadenofibroma|fallopian tube cystadenofibroma|cystadenofibroma of fallopian tube DOID:8211|NCIT:C40114|UMLS:C1517111 owl:Class MONDO:0003464 biolink:NamedThing cystadenofibroma A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue. tmpte7i6ely_mondo_relaxed.owl cystadenofibroma MESH:D062625|DOID:5482|NCIT:C8987|NCIT:C8985 owl:Class MONDO:0002408 biolink:NamedThing hereditary hyperbilirubinemia An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemia|hereditary hyperbilirubinemia|hyperbilirubinaemia|bilirubin metabolic disorder DOID:2741|NCIT:C84761|UMLS:C0020435|MESH:D006933|OMIMPS:237450 owl:Class MONDO:0024288 biolink:NamedThing hyperbilirubinemia A disease characterized by elevated level of the pigment bilirubin in the blood. tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemia|bilirubinemia UMLS:C0020433|SCTID:14783006 May be acquired or inherited owl:Class MONDO:0009480 biolink:NamedThing Joubert syndrome with oculorenal defect Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. tmpte7i6ely_mondo_relaxed.owl chorioretinal coloboma with cerebellar vermis aplasia|cerebello-oculo-renal syndrome|CORS|coloboma, chorioretinal, with cerebellar vermis aplasia|Joubert syndrome 5|Dekaban-Arima syndrome|Cerebellooculorenal syndrome|Joubert syndrome with oculorenal defect|Dekaban Arima syndrome|Arima syndrome|cerebro-oculo-hepato-renal syndrome|Joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|JS-OR|Joubert syndrome with Senior-Loken syndrome|JS type B|Joubert syndrome with oculorenal anomalies SCTID:721862000|OMIM:614465|OMIM:614424|Orphanet:2318|OMIM:243910|MESH:C537430|OMIM:612285|GARD:0009455|OMIM:614844|OMIM:610188|ICD10:Q04.3|OMIM:608091|UMLS:C1855675 https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies owl:Class MONDO:0021052 biolink:NamedThing parasympathetic paraganglioma A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas. tmpte7i6ely_mondo_relaxed.owl parasympathetic Extra-adrenal paraganglioma|parasympathetic nervous system paraganglioma|parasympathetic Paraganglionic neoplasm|parasympathetic paraganglioma|paraganglioma of parasympathetic nervous system ICDO:8682/1|UMLS:C0334416|NCIT:C4217 owl:Class MONDO:0000448 biolink:NamedThing paraganglioma A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. tmpte7i6ely_mondo_relaxed.owl paraganglioma|Paraganglionic tumor|paraganglion tumor|paraganglion neoplasm|paragangliomas|chemodectoma|neoplasm of the paraganglion|Paraganglionic neoplasm|neoplasm of paraganglion|tumor of the paraganglion|tumor of paraganglion OMIM:605373|DOID:0050773|OMIM:614165|UMLS:C0030421|EFO:1000453|MESH:D010235|OMIMPS:168000|ICDO:8680/1|OMIM:168000|ONCOTREE:PGNG|NCIT:C3308|OMIM:115310|ICD9:239.7|OMIM:601650|SCTID:127027008 owl:Class MONDO:0002452 biolink:NamedThing prostate leiomyoma A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of prostate|leiomyoma of prostate gland|leiomyoma of the prostate|prostate leiomyoma|prostate gland leiomyoma|prostatic leiomyoma NCIT:C5544|DOID:2887|UMLS:C1335510 owl:Class MONDO:0007593 biolink:NamedThing facial spasm tmpte7i6ely_mondo_relaxed.owl facial spasm OMIM:134300 owl:Class UBERON:0012475 biolink:NamedThing skeleton of pectoral complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015060 biolink:NamedThing mosaic trisomy 3 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy chromosome 3|trisomy 3 mosaicism|Mosaic trisomy type 3 SCTID:764627005|UMLS:CN073992|ICD10:Q92.1|GARD:0005342|Orphanet:100071 owl:Class MONDO:0700010 biolink:NamedThing chromosome 3 disorder Chromosomal disorder in which chromosome 3 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016948 biolink:NamedThing partial duplication of the short arm of chromosome 11 tmpte7i6ely_mondo_relaxed.owl partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p|partial duplication of the short arm of chromosome type 11|partial trisomy of chromosome 11p Orphanet:262785 owl:Class MONDO:0017794 biolink:NamedThing Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. tmpte7i6ely_mondo_relaxed.owl dup(X)(q12-q13.3) ICD10:Q99.8|SCTID:764711007|Orphanet:314389|UMLS:CN203749 owl:Class MONDO:0019486 biolink:NamedThing myoclonic epilepsy of infancy tmpte7i6ely_mondo_relaxed.owl benign myoclonus epilepsy of infancy|benign myoclonic epilepsy of infancy UMLS:CN206266|UMLS:C0917800|ICD10:G40.3|Orphanet:86909 owl:Class MONDO:0100022 biolink:NamedThing neonatal/infantile epilepsy syndrome An epilepsy sydrome that has an onset during the neonatal or infantile stage of life. tmpte7i6ely_mondo_relaxed.owl 2018-06-22 23:34:03+00:00 http://orcid.org/0000-0001-8486-0558 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0003775 biolink:NamedThing lateral ventricle meningioma A meningioma that affects the lateral ventricle of the brain. tmpte7i6ely_mondo_relaxed.owl meningioma of lateral ventricle|meningioma of the lateral ventricle|telencephalic ventricle meningioma (disease)|meningioma (disease) of telencephalic ventricle DOID:6115|NCIT:C5302|UMLS:C1334380 owl:Class MONDO:0002772 biolink:NamedThing intraventricular meningioma A meningioma that affects the ventricles of the brain. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of brain ventricle|brain ventricle meningioma (disease) DOID:3772|UMLS:C1334271|NCIT:C5273|MESH:D008579 owl:Class MONDO:0030498 biolink:NamedThing immunodeficiency 92 tmpte7i6ely_mondo_relaxed.owl IMD92 OMIM:619652 owl:Class MONDO:0100273 biolink:NamedThing glyceronephosphate O-acyltransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene. tmpte7i6ely_mondo_relaxed.owl GNPAT deficiency|glyceronephosphate O-acyltransferase deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0017986 biolink:NamedThing disorder of plasmalogens biosynthesis tmpte7i6ely_mondo_relaxed.owl disorder of plasmalogens biosynthesis Orphanet:3276|UMLS:CN237437 owl:Class MONDO:0005515 biolink:NamedThing oral cavity cancer A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant tumor of anterior floor of mouth|malignant neoplasm of the mouth|malignant mouth tumor|malignant oral cavity neoplasm|malignant neoplasm of lateral portion of floor of mouth|oral cavity cancer|malignant neoplasm of oral cavity|malignant tumor of lateral floor of mouth|malignant tumor of oral cavity|malignant neoplasm of anterior portion of floor of mouth|malignant neoplasm of lateral floor of mouth|cancer of oral cavity|malignant tumor of the mouth|malignant neoplasm of floor of mouth|malignant tumor of the floor of the mouth|malignant mouth neoplasm|malignant oral cavity tumor|malignant tumor of mouth|mouth cancer|malignant neoplasm of mouth ICD9:144.1|ICD9:145.9|ICD9:144.9|ICD9:145.8|ICD9:144|SCTID:363505006|ICD10:C04.9|ICD9:149.8|EFO:0005570|DOID:8618|ICD10:C04|ICD10:C04.0|ICD10:C04.1|NCIT:C9314|ICD9:144.0 owl:Class MONDO:0005627 biolink:NamedThing head and neck cancer A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpte7i6ely_mondo_relaxed.owl malignant head and neck tumor|malignant neoplasm of head and neck|craniocervical region cancer|malignant craniocervical region neoplasm|head and neck cancer|head and neck malignant neoplasia|malignant tumor of head and neck|malignant neoplasm of craniocervical region|cancer of craniocervical region|cancer of the head and neck|malignant tumor of the head and neck|cancer of head and neck|malignant neoplasm of the head and neck|head and neck neoplasm|head/neck neoplasm|head and neck tumours|malignant head and neck neoplasm UMLS:C0018671|SCTID:255055008|EFO:0006859|NCIT:C3077|UMLS:C0278996|DOID:11934|NCIT:C4013 owl:Class MONDO:0013166 biolink:NamedThing GABA aminotransferase deficiency Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. tmpte7i6ely_mondo_relaxed.owl gamma-amino butyric acid transaminase deficiency|GABA transaminase deficiency|GABA-transaminase deficiency|GABAT|4 alpha aminobutyrate transaminase deficiency|ABAT|gamma aminobutyric acid transaminase deficiency|GABA aminotransferase deficiency|gamma aminobutyrate transaminase deficiency|gamma-aminobutyric acid transaminase deficiency Orphanet:2066|DOID:0060174|MESH:C535407|ICD10:E72.8|OMIM:613163|UMLS:C0342708|HGNC:23|SCTID:237941007|GARD:0000194 owl:Class UBERON:0005001 biolink:NamedThing mucosa of common hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006932 biolink:NamedThing vestibular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006934 biolink:NamedThing sensory epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007417 biolink:NamedThing central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. tmpte7i6ely_mondo_relaxed.owl CNS development owl:Class GO:0048731 biolink:NamedThing system development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002397 biolink:NamedThing maxilla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008907 biolink:NamedThing dermal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035053 biolink:NamedThing interlobular duct of salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035049 biolink:NamedThing excretory duct of salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010790 biolink:NamedThing MERRF syndrome A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. tmpte7i6ely_mondo_relaxed.owl myoclonic epilepsy associated with ragged red fibers|myoclonus epilepsy associated with ragged-red fibres|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)|myoclonus epilepsy and ragged red fibers|myoclonic epilepsy associated with ragged-RED fibers|myoclonic epilepsy with ragged red fibers|MERRF syndrome|Fukuhara syndrome|myoencephalopathy ragged-red fiber disease|myoclonic epilepsy - ragged red fibers|MERRF|myoclonus with epilepsy and with ragged Red fibers GARD:0007144|ICD10:E88.42|NCIT:C84889|MedDRA:10069825|OMIM:545000|DOID:310|MESH:D017243|ICD9:277.87|UMLS:C0162672|ICD10:G71.3|Orphanet:551|SCTID:68448003 owl:Class MONDO:0008067 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl nasopharyngeal carcinoma, susceptibility to, type 2|NPCA2|Npca2|nasopharyngeal carcinoma, susceptibility to, 2 GARD:0007163|UMLS:C2750548|Orphanet:150|OMIM:161550 owl:Class MONDO:0009249 biolink:NamedThing hereditary fructose intolerance Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. tmpte7i6ely_mondo_relaxed.owl fructose-1-phosphate aldolase deficiency|hereditary fructosemia|hereditary fructose-1-phosphate aldolase deficiency|aldolase B deficiency|fructosemia|fructose-1,6-bisphosphate aldolase B deficiency|hereditary fructose intolerance syndrome|fructose intolerance|Aldob deficiency|Fructosaemia|hereditary fructose intolerance|fructose intolerance, hereditary SCTID:20052008|DOID:9869|ICD10:E74.12|Orphanet:469|UMLS:C0016751|OMIM:229600|ICD9:271.2|GARD:0006622|MedDRA:10019878|ICD10:E74.1|NCIT:C84720 owl:Class MONDO:0017689 biolink:NamedThing disorder of fructose metabolism tmpte7i6ely_mondo_relaxed.owl Orphanet:308463|UMLS:C0342744|SCTID:39452003|ICD10:E74.1 owl:Class MONDO:0013192 biolink:NamedThing spondyloarthropathy, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl spondyloarthropathy, susceptibility to, 3|SPDA3 DOID:0080605|OMIM:613238 owl:Class MONDO:0002631 biolink:NamedThing conventional osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. tmpte7i6ely_mondo_relaxed.owl central osteosarcoma|conventional osteosarcoma|medullary osteosarcoma|intracortical osteosarcoma|intracortical osteogenic sarcoma|conventional central osteosarcoma|intracortical osteosarcoma (morphologic abnormality) UMLS:C1266166|DOID:7602|ICDO:9186/3|NCIT:C35870|DOID:3378|ICDO:9195/3 owl:Class MONDO:0002629 biolink:NamedThing bone osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. tmpte7i6ely_mondo_relaxed.owl bone osteosarcoma|primary osteosarcoma of bone|osteosarcoma of bone OMIM:259500|Orphanet:668|NCIT:C53707|SCTID:307576001|GARD:0007284|ICD10:C41.9|DOID:3376|MESH:D012516|MedDRA:10031291|ICD9:170.9 owl:Class MONDO:0014602 biolink:NamedThing intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. tmpte7i6ely_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 35|autosomal dominant mental retardation 35|intellectual disability, autosomal dominant type 35|autosomal dominant intellectual disability 35|MRD35|intellectual disability, autosomal dominant 35|mental retardation, autosomal dominant 35|mental retardation, autosomal dominant type 35 OMIM:616355|DOID:0070065|Orphanet:457279|UMLS:C4225354 owl:Class MONDO:0000631 biolink:NamedThing bone benign neoplasm A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the bone|benign neoplasm of bone|benign bone tumor|benign tumor of bone|benign osseous neoplasm|benign bone neoplasm|benign tumor of the bone|benign osseous tumor|bone tissue benign neoplasm NCIT:C4880|SCTID:92027006|DOID:0060094|ICD9:213.9 owl:Class MONDO:0004452 biolink:NamedThing childhood central nervous system germinoma A germinoma arising from the central nervous system during childhood. tmpte7i6ely_mondo_relaxed.owl central nervous system germinoma of childhood|Central nervous system germinoma|pediatric central nervous system germinoma NCIT:C27406|UMLS:C1332953|DOID:8078 owl:Class MONDO:0004479 biolink:NamedThing malignant childhood germ cell neoplasm A malignant germ cell tumor that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl malignant pediatric germ cell tumor|malignant childhood germ cell neoplasm|malignant childhood germ cell tumor|malignant pediatric germ cell neoplasm NCIT:C6541|UMLS:C1334574|DOID:8149 owl:Class MONDO:0003835 biolink:NamedThing gastric cardia adenocarcinoma A carcinoma that arises from glandular epithelial cells of the cardia of stomach. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of cardia of stomach|adenocarcinoma of the cardia of the stomach|adenocarcinoma of gastric cardia|cardia of stomach adenocarcinoma|adenocarcinoma of the gastric cardia UMLS:C1333762|NCIT:C5247|DOID:6271 owl:Class GO:0050777 biolink:NamedThing negative regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpte7i6ely_mondo_relaxed.owl down-regulation of immune response|downregulation of immune response|down regulation of immune response|inhibition of immune response owl:Class GO:0048585 biolink:NamedThing negative regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpte7i6ely_mondo_relaxed.owl down regulation of response to stimulus|down-regulation of response to stimulus|inhibition of response to stimulus|downregulation of response to stimulus owl:Class MONDO:0004033 biolink:NamedThing familial ovarian carcinoma Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. tmpte7i6ely_mondo_relaxed.owl familial ovarian carcinoma|familiar ovarian carcinoma|hereditary ovarian cancer|hereditary ovarian carcinoma UMLS:C1333992|DOID:6901|NCIT:C36102 owl:Class MONDO:0019179 biolink:NamedThing monosomy 9q22.3 Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. tmpte7i6ely_mondo_relaxed.owl microdeletion 9q22.3 SCTID:724098008|MESH:C579873|UMLS:C3711390|Orphanet:77301|ICD10:Q93.5 owl:Class UBERON:0003262 biolink:NamedThing amniotic mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000738 biolink:NamedThing leukocyte An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpte7i6ely_mondo_relaxed.owl leucocyte|immune cell|white blood cell FMA:62852|BTO:0000751|CALOHA:TS-0549 cell owl:Class CL:0000988 biolink:NamedThing hematopoietic cell A cell of a hematopoietic lineage. tmpte7i6ely_mondo_relaxed.owl haemopoietic cell|hemopoietic cell|haematopoietic cell BTO:0000574|FMA:83598|CALOHA:TS-2017|FMA:70366 cell owl:Class MONDO:0007226 biolink:NamedThing brachydactyly-nystagmus-cerebellar ataxia syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. tmpte7i6ely_mondo_relaxed.owl brachydactyly-NYSTAGMUS-cerebellar ataxia|Biemond syndrome|brachydactyly - nystagmus - cerebellar ataxia|Biemond syndrome type 1|brachydactyly, nystagmus and cerebellar ataxia MESH:C566192|SCTID:205828009|ICD10:Q87.8|GARD:0000971|GARD:0000881|Orphanet:1246|ICD9:759.89|OMIM:113400 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1 owl:Class CHEBI:83821 biolink:NamedThing amino acid derivative Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues. tmpte7i6ely_mondo_relaxed.owl modified amino acids|amino acid derivatives owl:Class MONDO:0020377 biolink:NamedThing early-onset partial cataract tmpte7i6ely_mondo_relaxed.owl OMIM:607304|OMIM:115800|OMIM:609376|OMIM:601202|OMIM:116400|ICD10:Q12.0|Orphanet:98992|OMIM:605728|OMIM:116300|UMLS:CN207248|OMIM:613763|OMIM:614422|OMIM:610019|OMIM:115660 owl:Class MONDO:0021682 biolink:NamedThing viral sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. tmpte7i6ely_mondo_relaxed.owl venereal disease, viral|sexually Transmitted disease, viral|diseases, viral venereal|viral venereal diseases|viral venereal disease|disease, viral venereal|venereal diseases, viral|viral sexually transmitted disease|viral sexually Transmitted diseases UMLS:C0036918|MESH:D015229 owl:Class MONDO:0100329 biolink:NamedThing primary viral infectious disease The initial viral infectious disase that causes illness. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0002026 biolink:NamedThing candidiasis Infection with the organism Candida. tmpte7i6ely_mondo_relaxed.owl Candida infection|systemic candidiasis|Candida infection|disseminated candidiasis|Candidosis|infections, Candida |thrush UMLS:C0006840|ICD10:B37|ICD9:112.89|ICD9:112|NCIT:C26711|ICD10:B37.9|SCTID:78048006|MESH:D002177|ICD9:112.9|DOID:1508 owl:Class MONDO:0016646 biolink:NamedThing autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. tmpte7i6ely_mondo_relaxed.owl ICD10:H47.2|UMLS:CN201872|Orphanet:250932 owl:Class MONDO:0020250 biolink:NamedThing autosomal dominant optic atrophy An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. tmpte7i6ely_mondo_relaxed.owl DOA|optic atrophy, autosomal dominant|ADOA|dominant optic atrophy UMLS:C0338508|Orphanet:98672|NCIT:C84577|MESH:D029241|ICD10:H47.2|GARD:0011972|SCTID:2065009 owl:Class MONDO:0030005 biolink:NamedThing epilepsy, early-onset, with or without developmental delay tmpte7i6ely_mondo_relaxed.owl EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY|epilepsy, early-onset, with or without developmental delay|EPEDD OMIM:618832 owl:Class MONDO:0044643 biolink:NamedThing congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Orphanet:495875 owl:Class CL:0000826 biolink:NamedThing pro-B cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. tmpte7i6ely_mondo_relaxed.owl progenitor B lymphocyte|progenitor B-cell|progenitor B-lymphocyte|progenitor B cell|pro-B lymphocyte|pre-pro B cell|pro-B-lymphocyte|pre-B cell (Philadelphia nomenclature)|pro-B-cell BTO:0003104 Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. cell owl:Class CL:0000838 biolink:NamedThing lymphoid lineage restricted progenitor cell A progenitor cell restricted to the lymphoid lineage. tmpte7i6ely_mondo_relaxed.owl lymphoid progenitor cell FMA:70338|BTO:0004731|CALOHA:TS-2025 Note that this is a class of cell types, not an identified single cell type. cell owl:Class MONDO:0014420 biolink:NamedThing short stature due to primary acid-labile subunit deficiency Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. tmpte7i6ely_mondo_relaxed.owl ACLSD|acid-labile SUBUNIT deficiency Orphanet:140941|OMIM:615961|UMLS:C3900122|SCTID:721074002|ICD10:E34.3 owl:Class MONDO:0015892 biolink:NamedThing growth hormone insensitivity syndrome Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency. tmpte7i6ely_mondo_relaxed.owl GHIS|Growth hormone insensitivity syndromes|short stature due to a defect in growth hormone receptor or post-receptor pathway GARD:0003924|UMLS:CN200504|NCIT:C129867|UMLS:C4318479|Orphanet:181393|ICD10:E34.3|UMLS:C0271568 owl:Class MONDO:0006414 biolink:NamedThing skin sarcoma A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of skin|cutaneous sarcoma|sarcoma of zone of skin|sarcoma of the skin|skin sarcoma|zone of skin sarcoma EFO:1000531|DOID:2687|UMLS:C0856900|NCIT:C5585 owl:Class GO:0002920 biolink:NamedThing regulation of humoral immune response Any process that modulates the frequency, rate, or extent of a humoral immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:33677 biolink:NamedThing Acanthamoebidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:555407 biolink:NamedThing Centramoebida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011842 biolink:NamedThing Grn-related frontotemporal lobar degeneration with Tdp43 inclusions A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. tmpte7i6ely_mondo_relaxed.owl dementia, hereditary dysphasic disinhibition|Ftld-TDP, Grn-related|frontotemporal dementia, ubiquitin-positive|frontotemporal dementia with Tdp43 inclusions, Grn-related|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related|aphasia, primary progressive OMIM:607485|Orphanet:282|ICD10:G31.0|UMLS:C0282513|DOID:0060672|Orphanet:100070 owl:Class MONDO:0017276 biolink:NamedThing frontotemporal dementia Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. tmpte7i6ely_mondo_relaxed.owl frontotemporal lobe dementia (FLDEM)|MSTD|multiple system tauopathy with presenile dementia|pallidopontonigral degeneration|frontotemporal lobar degeneration|Wilhemsen-Lynch disease|FTD OMIM:172700|DOID:9255|OMIM:607485|UMLS:C0520716|Orphanet:282|ICD10:G31.0|GARD:0008436|OMIM:600274|MESH:D057180|OMIM:600795|NCIT:C84719|UMLS:C0338451|MedDRA:10068968 owl:Class UBERON:8410009 biolink:NamedThing arteriole of anorectum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001980 biolink:NamedThing arteriole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005073 biolink:NamedThing melanocytic nevus A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. tmpte7i6ely_mondo_relaxed.owl melanotic Nevus|nevus|mole|melanocytic Nevus|mole of skin OMIM:162900|SCTID:400096001|EFO:0000625|NCIT:C7570|MESH:D009506|Wikipedia:Nevus owl:Class GO:1902930 biolink:NamedThing regulation of alcohol biosynthetic process Any process that modulates the frequency, rate or extent of alcohol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of alcohol anabolism|regulation of solventogenesis|regulation of alcohol biosynthesis|regulation of alcohol synthesis|regulation of alcohol formation owl:Class MONDO:0019113 biolink:NamedThing benign paroxysmal torticollis of infancy Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children. tmpte7i6ely_mondo_relaxed.owl ICD10:G24.3|Orphanet:71518|SCTID:719521002|UMLS:CN205631 owl:Class MONDO:0016058 biolink:NamedThing paroxysmal dystonia tmpte7i6ely_mondo_relaxed.owl Orphanet:200037|ICD9:333.99|SCTID:230310003 owl:Class MONDO:0004763 biolink:NamedThing carotid artery dissection Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. tmpte7i6ely_mondo_relaxed.owl dissection of carotid artery ICD9:443.21|DOID:9348|SCTID:720626009|ICD10:I77.71|NCIT:C125662|UMLS:C0338585 owl:Class MONDO:0005269 biolink:NamedThing carotid artery disorder A disease involving the carotid artery segment. tmpte7i6ely_mondo_relaxed.owl carotid artery segment disease|carotid artery disorder|disease or disorder of carotid artery segment|disease of carotid artery segment|disorder of carotid artery|carotid artery segment disease or disorder|disorder of carotid artery segment ICD9:447.9|EFO:0003781|UMLS:C0007273|NCIT:C84476|MESH:D002340|DOID:3407|SCTID:371160000 owl:Class MONDO:0018924 biolink:NamedThing microphthalmia, Lenz type Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. tmpte7i6ely_mondo_relaxed.owl MAA (formerly)|syndromic microphthalmia type 1|MCOPS1|Lenz microphthalmia|microphthalmia or anophthalmos with associated anomalies (formerly)|Lenz microphthamia syndrome|microphthalmia Lenz type|microphthalmia syndromic 1|Lenz dysplasia OMIM:309800|ICD10:Q11.2|Orphanet:568|OMIM:300166|GARD:0000087 Editors note: TODO check owl:Class MONDO:0020237 biolink:NamedThing lens shape anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98655 owl:Class MONDO:0011357 biolink:NamedThing eccrine syringofibroadenomatosis with eyelid abnormalities tmpte7i6ely_mondo_relaxed.owl eccrine syringofibroadenomatosis with eyelid abnormalities OMIM:603669|UMLS:C1863618|MESH:C566347 owl:Class MONDO:0004561 biolink:NamedThing retinal melanoma A melanoma affecting the retinal portion of the eye. --2003 tmpte7i6ely_mondo_relaxed.owl melanoma (disease) of retina|melanoma of the retina|malignant melanoma of the retina|malignant retinal melanoma|malignant melanoma of retina|retina melanoma|retinal melanoma|melanoma of retina|retina melanoma (disease) SCTID:423673009|UMLS:C0853394|DOID:8427|NCIT:C8601 owl:Class MONDO:0003072 biolink:NamedThing retinal cancer A malignant neoplasm involving the retina. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the retina|malignant retina tumor|cancer of retina|retina cancer|malignant retina neoplasm|retinal tumor|malignant neoplasm of retina|malignant retinal neoplasm|malignant tumor of retina|malignant retinal tumor|malignant neoplasm of the retina NCIT:C4800|EFO:0005716|MESH:D019572|DOID:4645|SCTID:363465007|ICD9:190.5|ICD10:C69.2|NCIT:C3216 owl:Class GO:0010629 biolink:NamedThing negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018825 biolink:NamedThing PYCR2-related microcephaly-progressive leukoencephalopathy PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. tmpte7i6ely_mondo_relaxed.owl Orphanet:481152 owl:Class MONDO:0008312 biolink:NamedThing autosomal dominant prognathism Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). tmpte7i6ely_mondo_relaxed.owl Hapsburg jaw|prognathism mandibular|Habsburg jaw|prognathism, mandibular|'Habsburg jaw'|'Hapsburg jaw' GARD:0010319|OMIM:176700|Orphanet:2964|ICD10:K07.1|MESH:D008313|UMLS:CN203311 owl:Class MONDO:0009227 biolink:NamedThing myofibromatosis, infantile, 1 Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene. tmpte7i6ely_mondo_relaxed.owl fibromatosis, congenital generalized|myofibromatosis caused by mutation in PDGFRB|myofibromatosis, juvenile|myofibromatosis, infantile, type 1|PDGFRB myofibromatosis|IMF1|myofibromatosis, infantile, 1 Orphanet:2591|OMIM:228550|MESH:C562978|ICD9:756.9|SCTID:254146000 owl:Class MONDO:0024547 biolink:NamedThing pancreatic agenesis 1 Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene. tmpte7i6ely_mondo_relaxed.owl PAGEN1|pancreatic agenesis caused by mutation in PDX1|Pagen|pancreatic hypoplasia, congenital|PDX1 pancreatic agenesis|pancreatic agenesis 1 UMLS:C3891828|Orphanet:2805|OMIM:260370|UMLS:C1850096 owl:Class MONDO:0009832 biolink:NamedThing pancreatic agenesis Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. tmpte7i6ely_mondo_relaxed.owl congenital pancreatic agenesis|partial pancreatic agenesis|pancreatic agenesis 1|pancreatic agenesis type 1|PAGEN1|partial agenesis of the pancreas MESH:C564908|OMIMPS:260370|SCTID:719044008|ICD10:Q45.0|DOID:0050877|Orphanet:2805|OMIM:260370|OMIM:615935|OMIM:167755|UMLS:C1850096 owl:Class ENVO:09200011 biolink:NamedThing pressure of air The pressure of some air. tmpte7i6ely_mondo_relaxed.owl air pressure owl:Class PATO:0001025 biolink:NamedThing pressure A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021206 biolink:NamedThing chronic non-suppurative otitis media Chronic form of non-suppurative otitis media. tmpte7i6ely_mondo_relaxed.owl non-suppurative otitis media, chronic SCTID:232254004|UMLS:C0395869|ICD9:381.3 owl:Class UBERON:0005173 biolink:NamedThing abdominal segment element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018003 biolink:NamedThing limbic encephalitis with DPP6 antibodies tmpte7i6ely_mondo_relaxed.owl limbic encephalitis with dipeptidyl-peptidase 6 antibodies|limbic encephalitis with DPPX antibodies Orphanet:329341|ICD10:G13.1 owl:Class MONDO:0024332 biolink:NamedThing perennial allergic rhinitis Allergic rhinitis caused by indoor allergens and lasting year round. tmpte7i6ely_mondo_relaxed.owl non-seasonal allergic rhinitis|perennial allergic rhinitis|nonseasonal allergic rhinitis UMLS:C0035457|SCTID:446096008|NCIT:C92189 owl:Class MONDO:0011786 biolink:NamedThing allergic rhinitis Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. tmpte7i6ely_mondo_relaxed.owl atopic rhinitis|allergic rhinitis|non-seasonal allergic rhinitis|seasonal allergic rhinitis|allergic form of rhinitis|perennial allergic rhinitis|Perenial allergic rhinitis|Alrh|pollenosis UMLS:C2607914|SCTID:61582004|ICD9:477.9|HP:0003193|EFO:0005854|ICD9:477.8|ICD9:477|NCIT:C79532|DOID:4481|OMIM:607154|EFO:0003956 owl:Class MONDO:0012856 biolink:NamedThing Birk-Barel syndrome Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). tmpte7i6ely_mondo_relaxed.owl intellectual disability-hypotonia-facial dysmorphism syndrome|Birk-Barel syndrome|BIRK-Barel intellectual disability dysmorphism syndrome|intellectual disability with hypotonia and Facial Dysmorphism|BIRK-Barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and Facial Dysmorphism|Birk Barel mental retardation dysmorphism syndrome|Birk Barel intellectual disability dysmorphism syndrome|intellectual disability, Birk-Barel type Orphanet:166108|MESH:C567357|UMLS:C2676770|SCTID:764861005|DOID:0050675|GARD:0010358|ICD10:Q87.8|OMIM:612292 https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome owl:Class HP:0025423 biolink:NamedThing Abnormal larynx morphology Any anomaly of the structure of the larynx. tmpte7i6ely_mondo_relaxed.owl 2017-04-23 12:44:49+00:00 HPO:probinson human_phenotype owl:Class HP:0001600 biolink:NamedThing Abnormality of the larynx An abnormality of the larynx. tmpte7i6ely_mondo_relaxed.owl Laryngeal anomalies|Laryngeal abnormalities UMLS:C4021777 human_phenotype owl:Class UBERON:0006666 biolink:NamedThing great cerebral vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001663 biolink:NamedThing cerebral vein tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000848 biolink:NamedThing positive regulation of corticosteroid hormone secretion Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl positive regulation of corticosteroid secretion owl:Class GO:2000846 biolink:NamedThing regulation of corticosteroid hormone secretion Any process that modulates the frequency, rate or extent of corticosteroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl regulation of corticosteroid secretion owl:Class MONDO:0023113 biolink:NamedThing familial colorectal cancer Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. tmpte7i6ely_mondo_relaxed.owl colorectal cancer, familial|hereditary colorectal cancer OMIM:114500|GARD:0008533|UMLS:CN029768 https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer owl:Class MONDO:0005575 biolink:NamedThing colorectal cancer A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant colorectal tumor|malignant large bowel tumor|malignant colorectum neoplasm|CRC|colorectal cancer|malignant neoplasm of the large bowel|malignant neoplasm of large intestine|cancer of large intestine|cancer of colorectum|malignant colorectal neoplasm|cancer of the large bowel|large intestine cancer|malignant tumor of large bowel|colon cancer|malignant tumor of large intestine|malignant large bowel neoplasm|malignant tumor of the large intestine|malignant large intestine tumor|malignant neoplasm of the large intestine|malignant neoplasm of large bowel|cancer of large bowel|malignant tumor of the large bowel|malignant neoplasm of colorectum|malignant large intestine neoplasm|colorectum cancer NCIT:C5105|OMIM:611469|SCTID:408645001|EFO:0005842|OMIM:615083|OMIM:608812|UMLS:C1527249|UMLS:C1319315|OMIM:612592|OMIM:612232|OMIM:612229|MESH:D015179|OMIM:114500|SCTID:363510005|OMIM:612591|OMIM:612231|NCIT:C4978|DOID:9256|OMIM:612589|Orphanet:466667|DOID:5672|NCIT:C2955|OMIM:612230|UMLS:C0699790|OMIM:612590|ICD10:C18.9|KEGG:05210 Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent MONDO:0003576|MONDO:0021307 owl:Class MONDO:0020582 biolink:NamedThing benign uterine ligament neoplasm A non-metastasizing neoplasm that arises from the uterine ligament. tmpte7i6ely_mondo_relaxed.owl benign uterine ligament neoplasm NCIT:C126493|UMLS:C0865093 owl:Class MONDO:0000636 biolink:NamedThing musculoskeletal system benign neoplasm A benign neoplasm that involves the musculoskeletal system. tmpte7i6ely_mondo_relaxed.owl musculoskeletal system benign neoplasm DOID:0060099 owl:Class MONDO:0021232 biolink:NamedThing pineal body neoplasm A neoplasm (disease) that involves the pineal body. tmpte7i6ely_mondo_relaxed.owl tumor of the pineal region|pineal region neoplasm|tumor of pineal region|neoplasm of the pineal region|tumor of pineal area|pineal tumor|pinealoma|neoplasm of pineal area|pineal region tumor|pineal neoplasm|pineal body neoplasm (disease)|pineal area neoplasm|neoplasm of pineal region|neoplasm of the pineal area|tumor of the pineal area|pineal area tumor|tumor of pineal body|neoplasm of pineal body|pineal body tumor NCIT:C3328|ONCOTREE:PINT owl:Class MONDO:0003081 biolink:NamedThing thalamic disorder A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. tmpte7i6ely_mondo_relaxed.owl disease of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease|dorsal plus ventral thalamus disease or disorder|disease or disorder of dorsal plus ventral thalamus|disorder of dorsal plus ventral thalamus DOID:4662|MESH:D013786|UMLS:C0039726|NCIT:C85186 owl:Class MONDO:0008452 biolink:NamedThing spinal muscular atrophy, facioscapulohumeral type tmpte7i6ely_mondo_relaxed.owl Fshsma|spinal muscular atrophy, facioscapulohumeral type UMLS:C1866783|MESH:C566674|OMIM:182970 owl:Class MONDO:0001516 biolink:NamedThing spinal muscular atrophy Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl DOID:12377|EFO:0008525|ICD9:335.1|GARD:0007674|NCIT:C85075|SCTID:5262007|ICD10:G12.9|ICD9:335.19|UMLS:C0026847|ICD9:335.10|MESH:D009134 https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy owl:Class MONDO:0011472 biolink:NamedThing epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering. tmpte7i6ely_mondo_relaxed.owl Mcgrath syndrome|McGrath syndrome|ectodermal dysplasia-skin fragility syndrome|ectodermal dysplasia - skin fragility syndrome|ectodermal dysplasia skin fragility syndrome|ectodermal dysplasia/skin fragility syndrome Orphanet:158668|ICD10:Q81.0|OMIM:604536|GARD:0009705|SCTID:716699004|UMLS:C1858302|MESH:C536183 owl:Class MONDO:0012881 biolink:NamedThing major affective disorder 7 tmpte7i6ely_mondo_relaxed.owl MAFD7|major affective disorder 7|bipolar affective disorder|major affective disorder type 7 MESH:C567529|OMIM:612371 owl:Class MONDO:0016051 biolink:NamedThing cleft lip-retinopathy syndrome Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. tmpte7i6ely_mondo_relaxed.owl cleft lip-progressive retinopathy syndrome|Ausems Wittebol-Post Hennekam syndrome|cleft lip with progressive retinopathy|Ausems-Wittebol Post-Hennekam syndrome|cleft lip-cone rod dystrophy syndrome MESH:C538272|ICD10:Q87.8|GARD:0000435|Orphanet:1995|UMLS:C2931789 owl:Class CL:0002262 biolink:NamedThing endothelial cell of sinusoid An endothelial cell that lines any of the venous cavities through which blood passes in various glands and organs such as the spleen and liver. tmpte7i6ely_mondo_relaxed.owl FMA:63134 tmeehan 2010-09-14T10:57:26Z CL:1000403 cell owl:Class UBERON:0035552 biolink:NamedThing deep vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29529 biolink:NamedThing TBL1XR1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001305 biolink:NamedThing vegetated area A vegetated area is a geographic feature which has ground cover dominated by plant communities. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006706 biolink:NamedThing steroid catabolic process The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpte7i6ely_mondo_relaxed.owl steroid breakdown|steroid catabolism|steroid degradation owl:Class MONDO:0021203 biolink:NamedThing serous otitis media tmpte7i6ely_mondo_relaxed.owl SOM|otitis media with effusion|secretory otitis media SCTID:80327007 owl:Class MONDO:0001212 biolink:NamedThing non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. tmpte7i6ely_mondo_relaxed.owl nonsuppurative otitis media ICD10:H65.90|ICD10:H65|DOID:11180|ICD10:H65.9|UMLS:C0271446|ICD9:381.4|SCTID:275481002 owl:Class MONDO:0016433 biolink:NamedThing dysmorphism-short stature-deafness-disorder of sex development syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome Orphanet:2282|ICD10:Q87.8|UMLS:CN201392 owl:Class MONDO:0006232 biolink:NamedThing giant cell tumor of soft tissue A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes. tmpte7i6ely_mondo_relaxed.owl GCT-ST|giant cell tumor of soft tissue|Osteoclastoma of soft tissue ICDO:9251/1|NCIT:C49107|UMLS:C0334553|EFO:1000281 owl:Class MONDO:0002402 biolink:NamedThing malignant giant cell tumor A malignant neoplasm characterized by then presence of atypical giant cells. tmpte7i6ely_mondo_relaxed.owl malignant giant cell neoplasm|malignant giant cell tumor|malignant tumor, giant cell type|giant cell tumor, malignant|malignant tumor, giant cell type (morphologic abnormality) NCIT:C4090|ICDO:8003/3|UMLS:C0334229|DOID:2705 owl:Class MONDO:0030852 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities tmpte7i6ely_mondo_relaxed.owl NEDFASB OMIM:619103 owl:Class HP:0002829 biolink:NamedThing Arthralgia Joint pain. tmpte7i6ely_mondo_relaxed.owl Joint pains|Joint pain|Arthritic pain|Arthralgias UMLS:C0003862|SNOMEDCT_US:57676002|MSH:D018771 Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. human_phenotype owl:Class HP:0012531 biolink:NamedThing Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. tmpte7i6ely_mondo_relaxed.owl Pain UMLS:C0030193|SNOMEDCT_US:22253000|MSH:D010146 peter 2013-12-15T09:38:08Z human_phenotype owl:Class MONDO:0018425 biolink:NamedThing Huntington disease-like syndrome due to C9ORF72 expansions tmpte7i6ely_mondo_relaxed.owl Huntington disease phenocopy due to C9ORF72 expansions|C9ORF72-related Huntington disease-like syndrome|C9ORF72-related Huntington disease phenocopy ICD10:G10|Orphanet:401901|UMLS:CN226138 owl:Class MONDO:0100224 biolink:NamedThing mitochondrial complex I deficiency, nuclear type 1 tmpte7i6ely_mondo_relaxed.owl mitochondrial complex I deficiency, nuclear type 1|NADH-coenzyme Q reductase deficiency|mitochondrial complex I deficiency|MC1DN1|NADH:Q(1) oxidoreductase deficiency|mitochondrial complex 1 deficiency|mitochondrial NADH dehydrogenase component of Complex I, deficiency of DOID:0060536|MESH:C537475|UMLS:C2936907|ICD10:G71.3|OMIM:252010|Orphanet:2609|GARD:0003908|UMLS:C1838979 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016805 biolink:NamedThing isolated oxidative phosphorylation complex disorder tmpte7i6ely_mondo_relaxed.owl isolated respiratory chain complex disorder UMLS:CN227005|Orphanet:254846 owl:Class MONDO:0012152 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl Adhd4|attention deficit-hyperactivity disorder, susceptibility to, 4|attention Deficit-hyperactivity disorder, susceptibility to, type 4 OMIM:608906 owl:Class MONDO:0001818 biolink:NamedThing facial neuralgia Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. tmpte7i6ely_mondo_relaxed.owl facial nerve neuralgia|neuralgia of facial nerve SCTID:4151000119102|ICD9:351.8|DOID:13865|MESH:D005156 owl:Class MONDO:0021667 biolink:NamedThing neuralgia A pain disorder characterize by pain in the distribution of a nerve or nerves tmpte7i6ely_mondo_relaxed.owl paroxysmal nerve pain|paroxysmal nerve pains|pain, nerve|neuralgia|pain, neuropathic ICD9:729.2|SCTID:16269008|MESH:D009437 owl:Class MONDO:0007917 biolink:NamedThing lymphedema-cerebral arteriovenous anomaly syndrome Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. tmpte7i6ely_mondo_relaxed.owl lymphedema and cerebral arteriovenous anomaly|primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet Orphanet:86914|OMIM:152900|UMLS:C1835272|MESH:C563612|GARD:0009217 owl:Class GO:0002823 biolink:NamedThing negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021583 biolink:NamedThing melanocytic skin neoplasm A melanocytic neoplasm that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl melanocytic neoplasm of zone of skin|melanocytic skin neoplasm|cutaneous melanocytic neoplasm|melanocytic neoplasm of skin|zone of skin melanocytic neoplasm NCIT:C7161|UMLS:C0349501 owl:Class MONDO:0021143 biolink:NamedThing melanocytic neoplasm tmpte7i6ely_mondo_relaxed.owl melanomas and nevi|melanocytic neoplasm MESH:D018326|SCTID:399956005|NCIT:C7058|UMLS:C1302746 owl:Class MONDO:0013764 biolink:NamedThing Joubert syndrome 16 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome type 16|JBTS16|Joubert syndrome caused by mutation in TMEM138|Joubert syndrome 16|TMEM138 Joubert syndrome OMIM:614465|UMLS:C3280906|Orphanet:2318|DOID:0110985 owl:Class MONDO:0022410 biolink:NamedThing retinal ciliopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:156165 owl:Class UBERON:0005740 biolink:NamedThing tunica intima of artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002523 biolink:NamedThing tunica intima tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000446 biolink:NamedThing chief cell of parathyroid gland An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone. tmpte7i6ely_mondo_relaxed.owl principal cell of parathyroid gland|parathyroid hormone secreting cell|parathyroid gland chief cell|parathyroid chief cell CALOHA:TS-2140|BTO:0004712|FMA:69078 cell owl:Class MONDO:0013871 biolink:NamedThing Seckel syndrome 6 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene. tmpte7i6ely_mondo_relaxed.owl Seckel syndrome 6|CEP63 Seckel syndrome|Seckel syndrome type 6|SCKL6|Seckel syndrome caused by mutation in CEP63 DOID:0070006|OMIM:614728|UMLS:C3553582 owl:Class MONDO:0019342 biolink:NamedThing Seckel syndrome A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. tmpte7i6ely_mondo_relaxed.owl SCKL|Harper's syndrome|bird-headed dwarfism|nanocephalic Dwarfism|Virchow-Seckel dwarfism|Seckel-type Dwarfism OMIM:616171|OMIM:613676|OMIM:606744|SCTID:57917004|OMIM:616777|OMIM:210600|OMIM:614851|OMIM:614728|UMLS:C0265202|OMIM:613823|DOID:0050569|ICD10:Q87.1|OMIM:616051|OMIMPS:210600|OMIM:615807|OMIM:600546|Orphanet:808|GARD:0008562|ICD9:759.89|NCIT:C125488 owl:Class MONDO:0016020 biolink:NamedThing frontal encephalocele tmpte7i6ely_mondo_relaxed.owl anterior encephalocele ICD10:Q01.0|Orphanet:1931|SCTID:253103006 owl:Class MONDO:0016057 biolink:NamedThing isolated encephalocele Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. tmpte7i6ely_mondo_relaxed.owl encephalocele|cranium bifidum|craniocele|bifid cranium Orphanet:199647|ICD10:Q01.2|ICD10:Q01.9|GARD:0006333|ICD10:Q01.1|MedDRA:10014617|ICD10:Q01.8|ICD10:Q01.0 owl:Class HGNC:9701 biolink:NamedThing PURA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045580 biolink:NamedThing regulation of T cell differentiation Any process that modulates the frequency, rate or extent of T cell differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of T cell development|regulation of T-lymphocyte differentiation|regulation of T-cell differentiation|regulation of T lymphocyte differentiation owl:Class MONDO:0002206 biolink:NamedThing sweat gland cancer A malignant neoplasm that affects the sweat glands. tmpte7i6ely_mondo_relaxed.owl malignant sweat gland neoplasm|sweat gland cancer|cancer of sweat gland|malignant neoplasm of the sweat gland|malignant tumor of the sweat gland|sweat gland neoplasms, malignant|malignant tumor of sweat gland|malignant neoplasm of sweat gland DOID:2095|ICD10:C44|UMLS:C1321904|NCIT:C4810 owl:Class MONDO:0012081 biolink:NamedThing 15q11q13 microduplication syndrome The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. tmpte7i6ely_mondo_relaxed.owl 15q11-q13 duplication syndrome|trisomy 15q11-q13|dup(15)(q11q13)|Duplication 15Q11-q13 syndrome|trisomy 15q11q13|autism, susceptibility to, 4|chromosome 15q11-q13 DUPLICATION syndrome|chromosome 15Q11.2 Duplication syndrome|15q11q13 duplication syndrome|15q11-q13 microduplication syndrome Orphanet:238446|ICD10:Q92.3|UMLS:C2675336|SCTID:719427001|UMLS:C4304726|OMIM:608636|NCIT:C126692 owl:Class MONDO:0005027 biolink:NamedThing epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. tmpte7i6ely_mondo_relaxed.owl seizure disorder|epilepsy ICD9:345.91|SCTID:84757009|NCIT:C3020|ICD10:G40|ICD9:345.80|ICD9:345.8|ICD10:G40.9|MESH:D004827|EFO:0000474|ICD9:345.9|ICD10:G40.909|NIFSTD:birnlex_12718|ICD9:345.90|DOID:1826|ICD9:345 owl:Class MONDO:0023483 biolink:NamedThing infectious myositis An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. tmpte7i6ely_mondo_relaxed.owl infectious myositis|infective myositis ICD9:728.0|GARD:0009131|NCIT:C26984|SCTID:29689003 https://rarediseases.info.nih.gov/diseases/9131/infective-myositis owl:Class UBERON:0005729 biolink:NamedThing pectoral appendage field tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006598 biolink:NamedThing presumptive structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001734 biolink:NamedThing tuberous sclerosis Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. tmpte7i6ely_mondo_relaxed.owl Bourneville-Pringles disease|Bourneville pringle disease|sclerosis Tuberosa|cerebral Scleroses|phakomatosis, Bourneville|Bourneville's disease|syndrome, Bourneville's|Bourneville pringle's disease|disease, Bourneville-pringle|Bourneville phakomatosis|Bourneville-pringle's disease|Bourneville's syndrome|Bourneville Phacomatosis|sclerosis, cerebral|tuberous sclerosis|tuberous sclerosis Complex|adenoma sebaceum syndrome|sclerosis, tuberose|sclerosis, tuberous|cerebral sclerosis|Phacomatosis, Bourneville|Bourneville disease|Bourneville syndrome|syndrome, Bourneville|tuberous sclerosis syndrome|tuberose sclerosis|ts - tuberous sclerosis|TSC|bourneville's disease|Epiloia|Bourneville-pringle disease|adenoma sebaceum|disease, Bourneville-pringle's ICD9:759.5|OMIM:191100|SCTID:7199000|OMIM:613254|MESH:D014402|OMIMPS:191100|ICD10:Q85.1|DOID:13515|NCIT:C3424 Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome owl:Class MONDO:0024582 biolink:NamedThing male reproductive system neoplasm A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of Male reproductive system|tumor of Male reproductive system|male reproductive organ neoplasm|tumor of the Male reproductive system|neoplasm of the Male reproductive system|Male reproductive system neoplasm|male reproductive organ tumor|Male reproductive system tumor|neoplasm of male reproductive organ|tumor of male reproductive organ ICD9:239.5|NCIT:C3054|SCTID:126895004 owl:Class MONDO:0003150 biolink:NamedThing male reproductive system disorder A disease involving the male reproductive system. tmpte7i6ely_mondo_relaxed.owl male reproductive disease|Male reproductive system disorder|Male reproductive system disease|disease of male reproductive system|male reproductive system disease|male reproductive system disease or disorder|disorder of male reproductive system|disease or disorder of male reproductive system|disorder of Male reproductive system ICD10:N40.N51|ICD10:N50.9|DOID:48|NCIT:C27019|MESH:D005832|ICD9:608.9|SCTID:363194005|ICD9:600-608.99 owl:Class MONDO:0000690 biolink:NamedThing body dysmorphic disorder Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. tmpte7i6ely_mondo_relaxed.owl body dysmorphia|dysmorphophobia|dysmorphic syndrome ICD10:F45.22|DOID:0060163|MESH:D057215|SCTID:83482000 owl:Class MONDO:0003117 biolink:NamedThing somatoform disorder A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. tmpte7i6ely_mondo_relaxed.owl physiological malfunction arising from mental factor|somatoform disorder|psychophysiologic disorder|psychosomatic disorder ICD9:300.8|SCTID:397923000|NCIT:C34956|ICD10:F45|DOID:4737|ICD9:306.8|ICD10:F45.0|MESH:D013001|ICD9:300.81|ICD10:F45.9|SCTID:31297008 owl:Class UBERON:0003663 biolink:NamedThing hindlimb muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902669 biolink:NamedThing positive regulation of axon guidance Any process that activates or increases the frequency, rate or extent of axon guidance. tmpte7i6ely_mondo_relaxed.owl up-regulation of axon growth cone guidance|up regulation of axon growth cone guidance|up regulation of axon pathfinding|positive regulation of axon chemotaxis|up-regulation of axon chemotaxis|up-regulation of axon guidance|upregulation of axon pathfinding|positive regulation of axon growth cone guidance|upregulation of axon chemotaxis|positive regulation of axon pathfinding|activation of axon guidance|upregulation of axon guidance|activation of axon chemotaxis|upregulation of axon growth cone guidance|up-regulation of axon pathfinding|activation of axon growth cone guidance|activation of axon pathfinding|up regulation of axon guidance|up regulation of axon chemotaxis owl:Class GO:0051272 biolink:NamedThing positive regulation of cellular component movement Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. tmpte7i6ely_mondo_relaxed.owl positive regulation of cellular component motion owl:Class HP:0002024 biolink:NamedThing Malabsorption Impaired ability to absorb one or more nutrients from the intestine. tmpte7i6ely_mondo_relaxed.owl Intestinal malabsorption|Malabsorption UMLS:C3714745 HP:0008270 human_phenotype owl:Class HP:0002242 biolink:NamedThing Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. tmpte7i6ely_mondo_relaxed.owl Abnormality of the intestine|Enteropathy MSH:D007410|UMLS:C0021831|SNOMEDCT_US:85919009 HP:0002628 human_phenotype owl:Class MONDO:0025136 biolink:NamedThing tuberculosis, bovine An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. tmpte7i6ely_mondo_relaxed.owl bovine tuberculosis|Tuberculoses, bovine|bovine Tuberculoses UMLS:C0041307|EFO:1001441|MESH:D014380 owl:Class MONDO:0020676 biolink:NamedThing disorder of central nervous system or retinal vasculature tmpte7i6ely_mondo_relaxed.owl retina/CNS vascular disease|central nervous system or retinal vascular disease Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease owl:Class HP:0000001 biolink:NamedThing All tmpte7i6ely_mondo_relaxed.owl UMLS:C0444868 Root of all terms in the Human Phenotype Ontology. human_phenotype owl:Class CL:0002036 biolink:NamedThing Slamf1-positive multipotent progenitor cell A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive. tmpte7i6ely_mondo_relaxed.owl KSL cell Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:35Z cell owl:Class CL:0000837 biolink:NamedThing hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. tmpte7i6ely_mondo_relaxed.owl hemopoietic progenitor cell|MPP BTO:0000725|CALOHA:TS-0448 Markers differ between mouse and human. cell owl:Class MONDO:0000922 biolink:NamedThing pelvic inflammatory disease Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. tmpte7i6ely_mondo_relaxed.owl PID, pelvic inflammatory disease|pelvic inflammatory disease|pelvic infection|inflammatory disease (PID), pelvic|pelvic inflammatory disease, (PID)|PID|disease (PID), pelvic inflammatory NCIT:C3889|MESH:D000292|EFO:1001388|ICD10:N73.9|ICD9:614-616.99|ICD9:614.8|DOID:1003|UMLS:C0242172|SCTID:198130006|ICD10:N70-N77|ICD9:614.9 owl:Class GO:0051128 biolink:NamedThing regulation of cellular component organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpte7i6ely_mondo_relaxed.owl regulation of cellular component organisation|regulation of cell organization|regulation of cellular component organization and biogenesis|regulation of cell organisation owl:Class MONDO:0021463 biolink:NamedThing benign neoplasm of parathyroid gland A benign neoplasm that involves the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the parathyroid gland|benign tumor of the parathyroid gland|benign parathyroid gland neoplasm|benign tumor of parathyroid gland|benign neoplasm of the parathyroid|benign neoplasm of parathyroid|benign tumor of parathyroid|benign parathyroid gland tumor|benign parathyroid tumor|parathyroid tumor benign|benign parathyroid neoplasm|benign tumor of the parathyroid|parathyroid gland benign neoplasm NCIT:C3630|SCTID:92272009|DOID:60008|ICD9:227.1|UMLS:C0154041|ICD10:D35.1 owl:Class GO:0032411 biolink:NamedThing positive regulation of transporter activity Any process that activates or increases the activity of a transporter. tmpte7i6ely_mondo_relaxed.owl upregulation of transporter activity|activation of transporter activity|stimulation of transporter activity|up regulation of transporter activity|up-regulation of transporter activity owl:Class MONDO:0014231 biolink:NamedThing juvenile onset Parkinson disease 19A Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene. tmpte7i6ely_mondo_relaxed.owl Parkinson disease 19B, early-onset|Parkinson disease 19, juvenile-onset|DNAJC6 Parkinson disease|juvenile onset Parkinson's disease 19A|Parkinson disease 19A, juvenile-onset|PARK19|Parkinson disease caused by mutation in DNAJC6|PARK19A|juvenile onset Parkinson disease 19A|Park19, formerly|juvenile onset Parkinson disease type 19A DOID:0060891|Orphanet:391411|OMIM:615528|ICD10:G20|UMLS:C3809811 owl:Class MONDO:0000828 biolink:NamedThing juvenile-onset Parkinson disease tmpte7i6ely_mondo_relaxed.owl juvenile-onset Parkinson's disease DOID:0060893 Editor notes: check onset axioms owl:Class MONDO:0010263 biolink:NamedThing Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome tmpte7i6ely_mondo_relaxed.owl Ats-Mr|chromosome Xq22.3 telomeric deletion syndrome|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis|ATS-MR|AMME syndrome|AMME complex ICD10:Q87.8|SCTID:720982007|OMIM:300990|Orphanet:86818|OMIM:300194|UMLS:C1846242|MESH:C564570 owl:Class MONDO:0000577 biolink:NamedThing congenital anemia Anemia, the cause of which is present at birth. tmpte7i6ely_mondo_relaxed.owl congenital anemia|congenital anemia (disease) UMLS:C0158995|NCIT:C35228|SCTID:63565007 owl:Class HGNC:28472 biolink:NamedThing TMEM43 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098632 biolink:NamedThing cell-cell adhesion mediator activity The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. tmpte7i6ely_mondo_relaxed.owl cell-cell adhesion molecule|protein binding involved in cell-cell adhesion owl:Class GO:0005515 biolink:NamedThing protein binding Binding to a protein. tmpte7i6ely_mondo_relaxed.owl protein amino acid binding|glycoprotein binding owl:Class MONDO:0019926 biolink:NamedThing X small rings X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. tmpte7i6ely_mondo_relaxed.owl ICD10:Q99.8|SCTID:766760004|Orphanet:96201 owl:Class MONDO:0019852 biolink:NamedThing inherited primary ovarian failure An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl non-acquired premature ovarian failure|hereditary primary ovarian failure|inherited premature ovarian failure OMIM:615724|OMIM:300511|OMIM:615723|OMIM:311360|ICD10:E28.3|OMIM:300604|OMIM:612964|OMIM:612885|OMIM:608996|OMIM:300510|OMIM:611548|Orphanet:95710|OMIMPS:311360|OMIM:613291|OMIM:612310 owl:Class MONDO:0013238 biolink:NamedThing chromosome 17q23.1-q23.2 deletion syndrome 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. tmpte7i6ely_mondo_relaxed.owl 17q23.1q23.2 microdeletion syndrome|17q23.1-q23.2 microdeletion syndrome|monosomy 17q23.1q23.2|Del(17)(q23.1q23.2)|chromosome 17q23.1-q23.2 deletion syndrome|monosomy 17q23.1-q23.2 GARD:0010936|UMLS:C4304591|UMLS:C3150607|DOID:0060405|OMIM:613355|ICD10:Q93.5|Orphanet:261279|SCTID:719584008 owl:Class MONDO:0016915 biolink:NamedThing partial deletion of the long arm of chromosome 17 tmpte7i6ely_mondo_relaxed.owl partial deletion of the long arm of chromosome type 17|partial deletion of chromosome 17q|partial monosomy of the long arm of chromosome 17|partial monosomy of chromosome 17q Orphanet:262137|ICD10:Q93.5 owl:Class NCBITaxon:121221 biolink:NamedThing Pediculidae tmpte7i6ely_mondo_relaxed.owl primate body lice|body lice GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:30005 biolink:NamedThing Anoplura tmpte7i6ely_mondo_relaxed.owl sucking lice GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018237 biolink:NamedThing acrofacial dysostosis tmpte7i6ely_mondo_relaxed.owl UMLS:C1332140|DOID:0060379|NCIT:C35795|Orphanet:364574 owl:Class GO:0030187 biolink:NamedThing melatonin biosynthetic process The chemical reactions and pathways resulting in the formation of melatonin (N-acetyl-5-methoxytryptamine). tmpte7i6ely_mondo_relaxed.owl melatonin anabolism|melatonin synthesis|melatonin formation|melatonin biosynthesis owl:Class GO:0043604 biolink:NamedThing amide biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003091 biolink:NamedThing cutaneous mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl mucoepidermoid skin carcinoma|zone of skin mucoepidermoid carcinoma NCIT:C4472|SCTID:254713002|DOID:4683|UMLS:C0346019 owl:Class MONDO:0003036 biolink:NamedThing mucoepidermoid carcinoma A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade. tmpte7i6ely_mondo_relaxed.owl MUCC|mucoepidermoid carcinoma|tumor, mucoepidermoid|mucoepidermoid carcinoma (morphologic abnormality)|tumors, mucoepidermoid|mucoepidermoid tumor|mucoepidermoid tumors|MEC ICDO:8430/3|DOID:4531|UMLS:C0206694|NCIT:C3772|EFO:1001049|MESH:D018277|ONCOTREE:MUCC|ICDO:8430/1|MESH:D018298|GARD:0010671 Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma owl:Class UBERON:0005777 biolink:NamedThing glomerular basement membrane tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051446 biolink:NamedThing positive regulation of meiotic cell cycle Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl stimulation of progression through meiotic cell cycle|up-regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|positive regulation of meiotic cell cycle progression|upregulation of progression through meiotic cell cycle|up regulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle owl:Class MONDO:0009131 biolink:NamedThing Riley-Day syndrome A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy type 3|hereditary sensory and autonomic neuropathy 3|HSAN3|familial autonomic nervous dysfunction|neuropathy, hereditary sensory and autonomic, type 3|Riley Day syndrome|neuropathy, hereditary sensory and autonomic, type III|hereditary sensory neuropathy type 3|HSAN III|dysautonomia, familial|HSN 3|hereditary sensory and autonomic neuropathy type III|HSAN 3|Riley-Day syndrome|familial dysautonomia UMLS:C0013364|MedDRA:10039179|DOID:11589|SCTID:29159009|NCIT:C84706|Orphanet:1764|OMIM:223900|MESH:D004402|GARD:0007581|ICD10:G90.1 owl:Class MONDO:0021154 biolink:NamedThing dermis disorder A disease that involves the dermis. tmpte7i6ely_mondo_relaxed.owl disorder of dermis|other dermis disorder|dermis disease|dermis disease or disorder|disease of dermis|disease or disorder of dermis Orphanet:79381|UMLS:CN227618 owl:Class MONDO:0014021 biolink:NamedThing familial episodic pain syndrome with predominantly upper body involvement tmpte7i6ely_mondo_relaxed.owl episodic pain syndrome, familial, 1|FEPS1|episodic pain syndrome, familial, type 1 UMLS:C3808667|ICD10:M79.6|UMLS:CN204968|Orphanet:391384|Orphanet:391389|OMIM:615040 owl:Class MONDO:0018319 biolink:NamedThing familial episodic pain syndrome tmpte7i6ely_mondo_relaxed.owl FEPS UMLS:CN204967|GARD:0012684|OMIM:615551|DOID:0111728|Orphanet:391384|OMIMPS:615040|OMIM:615552|UMLS:CN228162|OMIM:615040|ICD10:M79.6 https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome owl:Class MONDO:0005525 biolink:NamedThing T-cell leukemia A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood. tmpte7i6ely_mondo_relaxed.owl T cell leukemia (disease)|leukemia (disease) of T cell DOID:715|EFO:0005592|UMLS:C0023492|MESH:D015458 owl:Class MONDO:0005059 biolink:NamedThing leukemia A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. tmpte7i6ely_mondo_relaxed.owl leukemia (disease)|blood (leukemia)|leukemia, disease|leukemias, general|leukemias|leukemia|leukemia, malignant leukemia (disease) MESH:D007938|ICD10:C95.90|DOID:1240|ICDO:9800/3|NCIT:C3161|ICD10:C95.9|SCTID:93143009|UMLS:C0023418|HP:0001909|ICD9:207|ICD9:208.8|ICD9:208|EFO:0000565|ICD9:208.80|ICD9:208.90|ICD9:207.80|ICD10:C95|ICD9:207.8|ICD9:208.9 owl:Class MONDO:0022892 biolink:NamedThing craniosynostosis alopecia brain defect tmpte7i6ely_mondo_relaxed.owl GARD:0001586 https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect owl:Class MONDO:0015469 biolink:NamedThing craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. tmpte7i6ely_mondo_relaxed.owl premature closure of cranial sutures|craniosynostosis syndrome|CSO OMIM:604757|OMIM:600593|DOID:2340|MedDRA:10049889|NCIT:C84655|UMLS:C0010278|OMIM:123100|OMIM:615314|OMIM:600775|OMIM:615529|ICD10:Q75.0|GARD:0006209|OMIMPS:123100|MESH:D003398|MedDRA:10048907|SCTID:57219006|Orphanet:1531|OMIM:182212 owl:Class OBO:CHR_9606-chr8q22 biolink:NamedThing 8q22 (Human) tmpte7i6ely_mondo_relaxed.owl 105100000 92300000 hg38 owl:Class MONDO:0100097 biolink:NamedThing congenital alveolar dysplasia due to TBX4 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. tmpte7i6ely_mondo_relaxed.owl CAD due to TBX4 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0016229 biolink:NamedThing genetic vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic vascular anomaly Orphanet:211240 owl:Class UBERON:0005000 biolink:NamedThing mucosa of common bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004999 biolink:NamedThing mucosa of biliary tree tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013408 biolink:NamedThing FADD-related immunodeficiency A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. tmpte7i6ely_mondo_relaxed.owl FADD-related immunodeficiency|Fadd deficiency|infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations UMLS:C3151062|UMLS:C4509831|OMIM:613759|SCTID:723334006|Orphanet:306550 owl:Class MONDO:0008302 biolink:NamedThing centra precocious puberty 1 Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene. tmpte7i6ely_mondo_relaxed.owl precocious puberty, central, 1|KISS1R central precocious puberty|central precocious puberty caused by mutation in KISS1R|CPPB1|precocious puberty, central, type 1 OMIM:176400|UMLS:C3805879|Orphanet:759|UMLS:C0342543 owl:Class MONDO:0019165 biolink:NamedThing central precocious puberty Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). tmpte7i6ely_mondo_relaxed.owl CPP|gonadotropin-dependent precocious puberty|precocious puberty, central|gonadotropin-dependant precocious puberty OMIM:176400|OMIMPS:176400|Orphanet:759|OMIM:615346|ICD10:E22.8|SCTID:237816004|MESH:C562787|UMLS:C0342543|ICD9:259.1 owl:Class MONDO:0004064 biolink:NamedThing iris melanoma A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of iris|melanoma of the iris|iris malignant melanoma|malignant iris melanoma|melanoma of iris|melanoma (disease) of iris|malignant melanoma of the iris|iris melanoma|iris melanoma (disease) NCIT:C9088|SCTID:255012009|DOID:6994|UMLS:CN204945 MONDO:0021433 owl:Class MONDO:0002658 biolink:NamedThing iris cancer A malignant neoplasm involving the iris. tmpte7i6ely_mondo_relaxed.owl cancer of iris|malignant tumor of iris|iris cancer|malignant neoplasm of iris|malignant neoplasm of the iris|tumor of the iris|malignant tumor of the iris|malignant iris neoplasm|malignant iris tumor UMLS:C0346372|SCTID:188264002|NCIT:C3142|DOID:3478|UMLS:C0022079|EFO:1000996|NCIT:C4554 owl:Class HP:0001259 biolink:NamedThing Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. tmpte7i6ely_mondo_relaxed.owl Coma ICD-10:R40.2|SNOMEDCT_US:371632003|MSH:D003128|UMLS:C0009421 Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. human_phenotype owl:Class HP:0004372 biolink:NamedThing Reduced consciousness/confusion tmpte7i6ely_mondo_relaxed.owl Lowered consciousness|Disturbances of consciousness|Reduced consciousness/confusion SNOMEDCT_US:3006004|UMLS:C0234428 peter 2008-03-18T07:12:00Z human_phenotype owl:Class PATO:0001908 biolink:NamedThing multinucleate A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002505 biolink:NamedThing nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020646 biolink:NamedThing ocular adnexal lymphoma A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type. tmpte7i6ely_mondo_relaxed.owl ocular adnexa non-Hodgkin lymphoma|non-Hodgkin lymphoma of ocular adnexa|ocular adnexal lymphoma|OAL NCIT:C88145|UMLS:C2981712 owl:Class GO:1905516 biolink:NamedThing positive regulation of fertilization Any process that activates or increases the frequency, rate or extent of fertilization. tmpte7i6ely_mondo_relaxed.owl activation of syngamy|upregulation of syngamy|upregulation of fertilization|activation of fertilization|up regulation of fertilization|up-regulation of syngamy|up regulation of syngamy|up-regulation of fertilization|positive regulation of syngamy owl:Class GO:2000243 biolink:NamedThing positive regulation of reproductive process Any process that activates or increases the frequency, rate or extent of reproductive process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017135 biolink:NamedThing olivopontocerebellar atrophy-deafness syndrome Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. tmpte7i6ely_mondo_relaxed.owl olivopontocerebellar atrophy deafness GARD:0004070|Orphanet:2732|UMLS:CN202542 owl:Class MONDO:0008756 biolink:NamedThing alopecia - intellectual disability syndrome Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. tmpte7i6ely_mondo_relaxed.owl alopecia-intellectual disability syndrome|alopecia intellectual disbility syndrome 1|alopecia-mental retardation syndrome|AMR syndrome 1|alopecia with severe intellectual deficit|Amr syndrome|Perniola-Krajewska-Carnevale syndrome UMLS:C1859878|ICD10:Q87.8|SCTID:716191002|OMIM:613930|OMIM:203650|GARD:0000612|OMIMPS:203650|Orphanet:2850|DOID:0080627|OMIM:610422 owl:Class UBERON:0006653 biolink:NamedThing glans clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012621 biolink:NamedThing deafness-infertility syndrome Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. tmpte7i6ely_mondo_relaxed.owl sensorineural deafness and male infertility|chromosome 15Q15.3 deletion syndrome|dis|deafness, sensorineural, and Male infertility|deafness-infertility syndrome SCTID:700489002|OMIM:611102|ICD10:Q93.5|MESH:C567010|GARD:0011911|Orphanet:94064|ICD9:758.39 https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome owl:Class MONDO:0016913 biolink:NamedThing partial deletion of the long arm of chromosome 15 tmpte7i6ely_mondo_relaxed.owl 15q monosomy|deletion 15q|partial deletion of the long arm of chromosome type 15|partial monosomy of chromosome 15q|chromosome 15q deletion|partial monosomy of the long arm of chromosome 15|monosomy 15q|partial monosomy 15q|15q deletion|partial deletion of chromosome 15q Orphanet:262119|ICD10:Q93.5|GARD:0001746|MESH:C538038 owl:Class UBERON:0001673 biolink:NamedThing central retinal vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009141 biolink:NamedThing craniocervical region vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28900 biolink:NamedThing PNPLA8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008522 biolink:NamedThing synovial chondromatosis, familial, with dwarfism tmpte7i6ely_mondo_relaxed.owl synovial chondromatosis, familial with dwarfism|synovial chondromatosis, familial, with dwarfism UMLS:C1861304|OMIM:186575|MESH:C566087|GARD:0007720 https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism owl:Class MONDO:0021224 biolink:NamedThing iris neoplasm A neoplasm (disease) that involves the iris. tmpte7i6ely_mondo_relaxed.owl tumor of iris|tumor of the iris|neoplasm of iris|iris neoplasm (disease)|neoplasm of the iris|iris tumor NCIT:C3142|UMLS:C0022079 owl:Class MONDO:0002289 biolink:NamedThing iris disorder A disease involving the iris. tmpte7i6ely_mondo_relaxed.owl iris disease|iris disease or disorder|disorder of iris|disease of iris|disease or disorder of iris|iris disorder SCTID:85478004|NCIT:C34737|UMLS:C0022078|DOID:240|MESH:D007499 owl:Class MONDO:0000241 biolink:NamedThing Keshan disease A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. tmpte7i6ely_mondo_relaxed.owl coxsackievirus infectious disease|congestive cardiomyopathy due to selenium deficiency|enlarged heart and poor heart function DOID:0050083|ICD9:269.3|SCTID:46939000|MESH:C536166|MESH:D003384|EFO:0007226|UMLS:C0268095|GARD:0008761|UMLS:C0010246 https://rarediseases.info.nih.gov/diseases/8761/keshan-disease owl:Class NCBITaxon:90338 biolink:NamedThing Rhinosporidium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:198624 biolink:NamedThing Dermocystida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40141 biolink:NamedThing Sigmodontinae tmpte7i6ely_mondo_relaxed.owl PMID:15371245|GC_ID:1|PMID:15019624 ncbi_taxonomy owl:Class NCBITaxon:337677 biolink:NamedThing Cricetidae tmpte7i6ely_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020863 biolink:NamedThing laryngeal diphtheria Infection of the larynx by Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl diphtheritic laryngotracheitis|Laryngeal diphtheria|Laryngeal Diphtheria|laryngeal diphtheria|Diphtheritic laryngotracheitis SCTID:50215002|NCIT:C34546|ICD9:032.3|UMLS:C0012557 owl:Class MONDO:0004382 biolink:NamedThing laryngeal disorder A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. tmpte7i6ely_mondo_relaxed.owl disorder of the larynx|laryngeal disease|disorder of larynx|larynx disease or disorder|laryngeal disorder|disease of larynx|disease or disorder of larynx|larynx disease SCTID:60600009|NCIT:C26810|UMLS:C0023051|MESH:D007818|ICD9:478.70|ICD10:S12.8|ICD10:J38.7|DOID:786 owl:Class MONDO:0009622 biolink:NamedThing Jawad syndrome Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. tmpte7i6ely_mondo_relaxed.owl Jawad syndrome|microcephaly with mental retardation and digital anomalies|JWDS|microcephaly with intellectual disability and digital anomalies|Kelly syndrome|JAWAD syndrome UMLS:C0796063|Orphanet:313795|OMIM:251255 owl:Class MONDO:0013870 biolink:NamedThing TMEM165-CDG TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation, type IIk|CDG2K|CDG IIk|congenital disorder of glycosylation type 2k|carbohydrate deficient glycoprotein syndrome type IIk|TMEM165-CDG (CDG-IIk)|CDG syndrome type IIk|congenital disorder of glycosylation type IIk|CDG-IIk DOID:0070263|UMLS:C3553571|ICD10:E77.8|OMIM:614727|Orphanet:314667|SCTID:732252005|GARD:0012413 owl:Class MONDO:0017740 biolink:NamedThing disorder of protein N-glycosylation A disease that has its basis in the disruption of protein N-linked glycosylation. tmpte7i6ely_mondo_relaxed.owl protein N-linked glycosylation disease|disorder of protein N-linked glycosylation UMLS:CN227187|Orphanet:309347|ICD10:E77.8 owl:Class MONDO:0044310 biolink:NamedThing Diamond-Blackfan anemia 17 tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan anemia 17|DBA17 UMLS:C4479428|Orphanet:124|OMIM:617409 owl:Class GO:0051962 biolink:NamedThing positive regulation of nervous system development Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpte7i6ely_mondo_relaxed.owl stimulation of nervous system development|upregulation of nervous system development|up regulation of nervous system development|up-regulation of nervous system development|activation of nervous system development owl:Class MONDO:0011513 biolink:NamedThing Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology tmpte7i6ely_mondo_relaxed.owl Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology Orphanet:1020|OMIM:605055|MESH:C565728|UMLS:C1857933 owl:Class MONDO:0015140 biolink:NamedThing early-onset autosomal dominant Alzheimer disease A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. tmpte7i6ely_mondo_relaxed.owl early-onset, autosomal dominant Alzheimer disease|EOFAD|early-onset familial autosomal dominant Alzheimer disease OMIM:611155|OMIM:611152|OMIM:609790|OMIM:605526|OMIM:611073|OMIM:607822|OMIM:104300|OMIM:104310|OMIM:611154|OMIM:607116|OMIM:602096|UMLS:CN043596|OMIM:606889|ICD10:G30.0|GARD:0012798|Orphanet:1020|OMIM:609636|OMIM:605055|OMIM:606187 owl:Class MONDO:0017280 biolink:NamedThing demodicidosis Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. tmpte7i6ely_mondo_relaxed.owl Demodex disease or disorder|Demodicosis|Demodex caused disease or disorder|Demodex infectious disease GARD:0001802|Orphanet:283|ICD10:B88.0|UMLS:C3854478 https://rarediseases.info.nih.gov/diseases/1802/demodicidosis owl:Class MONDO:0017338 biolink:NamedThing fatal multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. tmpte7i6ely_mondo_relaxed.owl fatal multiple mitochondrial dysfunction syndrome|MMDS|multiple mitochondrial dysfunctions syndrome MESH:C565304|UMLS:CN202994|GARD:0012632|UMLS:CN234684|DOID:0070330|SCTID:720827002|Orphanet:289573|UMLS:C3502075|OMIMPS:605711 owl:Class UBERON:0002810 biolink:NamedThing right frontal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001870 biolink:NamedThing frontal cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004301 biolink:NamedThing middle phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003221 biolink:NamedThing phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019731 biolink:NamedThing AApoAI amyloidosis tmpte7i6ely_mondo_relaxed.owl familial renal amyloidosis due to apolipoprotein A-I variant|familial amyloid nephropathy due to apolipoprotein A-I variant|apolipoprotein A-I amyloidosis|hereditary renal amyloidosis due to apolipoprotein A-I variant|hereditary amyloid nephropathy due to apolipoprotein A-I variant Orphanet:93560|ICD10:E85.0|UMLS:CN206638 owl:Class MONDO:0007099 biolink:NamedThing familial visceral amyloidosis tmpte7i6ely_mondo_relaxed.owl amyloidosis 8|hereditary amyloidosis with primary renal involement|amyloidosis systemic nonneuropathic|amyloidosis, familial visceral|amyloidosis familial visceral|amyloidosis familial renal|systemic nonneuropathic amyloidosis|amyloidosis, Ostertag type|familial amyloid nephropathy|Ostertag type amyloidosis|amyloidosis, familial renal|amyloidosis, systemic Nonneuropathic|German type amyloidosis|hereditary amyloid nephropathy|amyloidosis VIII|hereditary renal amyloidosis|familial renal amyloidosis ICD9:277.39|Orphanet:85450|ICD10:E85.0|SCTID:66451004|UMLS:C0268389|OMIM:105200|MESH:C538249|GARD:0008282|DOID:0050636 https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral owl:Class MONDO:0007520 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. tmpte7i6ely_mondo_relaxed.owl ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|EEC|EEC syndrome 1|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1|EEC1 OMIM:129900|DOID:0060784|Orphanet:1896|MESH:C565062|UMLS:C0406704|ICD10:Q82.4 owl:Class MONDO:0010004 biolink:NamedThing EEC syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). tmpte7i6ely_mondo_relaxed.owl Walker-Clodius syndrome|ectrodactyly-cleft lip/palate syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|RUDIGER syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-cleft syndrome|Rudiger syndrome 1|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|ectrodactyly-ectodermal dysplasia-clefting syndrome ICD10:Q82.4|Orphanet:1896|NCIT:C148261|UMLS:CN776907|GARD:0002076|UMLS:C0406704|SCTID:39788007|MESH:C536189|DOID:0060782|OMIM:268650|OMIM:604292|OMIM:129900 https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome owl:Class GO:0048512 biolink:NamedThing circadian behavior The specific behavior of an organism that recurs with a regularity of approximately 24 hours. tmpte7i6ely_mondo_relaxed.owl circadian rhythm behavior owl:Class GO:0032259 biolink:NamedThing methylation The process in which a methyl group is covalently attached to a molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008152 biolink:NamedThing metabolic process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. tmpte7i6ely_mondo_relaxed.owl metabolic process resulting in cell growth|metabolism|multicellular organism metabolic process|metabolism resulting in cell growth|single-organism metabolic process owl:Class MONDO:0012020 biolink:NamedThing chromosome 22q11.2 microduplication syndrome The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome. tmpte7i6ely_mondo_relaxed.owl chromosome 22q11.2 microduplication syndrome|22q11.2 microduplication syndrome|chromosome 22q11.2 DUPLICATION syndrome|duplication 22q11.2|dup(22)(q11)|22q11.2 duplication|Duplication 22q11.2|22q11.2 duplication syndrome|trisomy 22q11.2|chromosome 22q11.2 duplication syndrome DOID:0060436|Orphanet:1727|MESH:C567224|SCTID:699311001|GARD:0010557|OMIM:608363|ICD10:Q92.3|UMLS:C2675369|ICD9:758.5 https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome owl:Class GO:2000294 biolink:NamedThing positive regulation of defecation Any process that activates or increases the frequency, rate or extent of defecation. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:37104 biolink:NamedThing Trichomonadida tmpte7i6ely_mondo_relaxed.owl trichomonads PMID:20093080|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5719 biolink:NamedThing Parabasalia tmpte7i6ely_mondo_relaxed.owl parabasalians|parabasalids|Parabasalidea PMID:20093080|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007276 biolink:NamedThing cat-eye syndrome Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. tmpte7i6ely_mondo_relaxed.owl CES|Inv dup(22)(q11)|Schmid-Fraccaro syndrome|CAT eye syndrome|chromosome 22 partial tetrasomy NCIT:C75477|GARD:0000026|SCTID:26445008|Orphanet:195|MESH:C535918|OMIM:115470|UMLS:C0265493|ICD10:Q92.8 https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome owl:Class MONDO:0015368 biolink:NamedThing neuro-ophthalmological disease tmpte7i6ely_mondo_relaxed.owl Orphanet:140653|UMLS:CN199459 owl:Class GO:0006903 biolink:NamedThing vesicle targeting The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009987 biolink:NamedThing cellular process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpte7i6ely_mondo_relaxed.owl cell growth and/or maintenance|single-organism cellular process|cell physiology|cellular physiological process owl:Class GO:0019853 biolink:NamedThing L-ascorbic acid biosynthetic process The chemical reactions and pathways resulting in the formation of L-ascorbic acid; L-ascorbic acid ionizes to give L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, which is required as a cofactor in the oxidation of prolyl residues to hydroxyprolyl, and other reactions. tmpte7i6ely_mondo_relaxed.owl L-ascorbic acid synthesis|vitamin C biosynthesis|L-ascorbic acid formation|L-ascorbic acid anabolism|L-ascorbic acid biosynthesis|ascorbate biosynthesis|vitamin C biosynthetic process|ascorbate biosynthetic process owl:Class GO:0046364 biolink:NamedThing monosaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. tmpte7i6ely_mondo_relaxed.owl monosaccharide formation|monosaccharide biosynthesis|monosaccharide anabolism|monosaccharide synthesis owl:Class MONDO:0019978 biolink:NamedThing Robinow syndrome Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. tmpte7i6ely_mondo_relaxed.owl costovertebral segmentation defect with mesomelia (formerly)|mesomelic dwarfism-small genitalia syndrome|acral dysostosis with facial and genital abnormalities|Covesdem syndrome (formerly)|fetal face syndrome|Robinow-Silverman-Smith syndrome|Robinow dwarfism OMIM:268310|OMIM:616894|Orphanet:97360|GARD:0000312|DOID:0060254|NCIT:C85048|OMIM:616331|UMLS:C0265205|UMLS:CN776872|OMIM:180700|OMIMPS:268310|ICD10:Q87.1|SCTID:76520005 owl:Class HGNC:21869 biolink:NamedThing AGK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100094 biolink:NamedThing cannabinoid hyperemesis syndrome A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. tmpte7i6ely_mondo_relaxed.owl CHS http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019391 biolink:NamedThing Fanconi anemia Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. tmpte7i6ely_mondo_relaxed.owl pancytopenia, congenital|Panmyelopathy, Fanconi|primary erythroid hypoplasia|Fanconi's anemia|Fanconi pancytopenia|Fanconi panmyelopathy|Fanconi anemia Orphanet:84|OMIM:609054|UMLS:C0015625|ICD10:D61.0|OMIMPS:227650|OMIM:600901|ICD10:D61.09|OMIM:300514|OMIM:227645|OMIM:609053|OMIM:615272|OMIM:616435|OMIM:613951|SCTID:30575002|OMIM:614082|MESH:D005199|DOID:13636|ICD9:284.09|OMIM:614083|OMIM:610832|OMIM:227646|OMIM:227650|NCIT:C62505|GARD:0006425|MedDRA:10055206|OMIM:613390|OMIM:603467 owl:Class GO:0060760 biolink:NamedThing positive regulation of response to cytokine stimulus Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060759 biolink:NamedThing regulation of response to cytokine stimulus Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007723 biolink:NamedThing interphalangeal joint of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007722 biolink:NamedThing interphalangeal joint of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016908 biolink:NamedThing partial monosomy of the long arm of chromosome 9 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome 9q|partial monosomy of chromosome 9q|partial monosomy of the long arm of chromosome type 9|partial deletion of the long arm of chromosome 9 ICD10:Q93.5|Orphanet:262074 owl:Class MONDO:0016874 biolink:NamedThing partial deletion of chromosome 9 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 9|partial monosomy of chromosome 9 Orphanet:261806|ICD10:Q93.5 owl:Class MONDO:0017305 biolink:NamedThing syndromic oculocutaneous albinism A oculocutaneous albinism that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic oculocutaneous albinism|syndrome associated with oculocutaneous albinism ICD10:E70.3|UMLS:CN227111|Orphanet:284811 owl:Class MONDO:0018134 biolink:NamedThing disorder of melanin metabolism tmpte7i6ely_mondo_relaxed.owl UMLS:CN227269|Orphanet:352728 owl:Class MONDO:0009162 biolink:NamedThing Ellis-van Creveld syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. tmpte7i6ely_mondo_relaxed.owl EVC|Ellis-VAN Creveld syndrome|Mesoectodermal dysplasia|Ellis Van Creveld syndrome|Chondroectodermal dysplasia|mesodermic dysplasia|Ellis-van Creveld syndrome MedDRA:10008724|GARD:0001301|ICD10:Q77.6|OMIM:617088|SCTID:62501005|OMIM:225500|NCIT:C84684|MESH:D004613|Orphanet:289|UMLS:C0013903|DOID:12714|ICD9:756.55|UMLS:CN239258 https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome owl:Class GO:1904221 biolink:NamedThing negative regulation of serine C-palmitoyltransferase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpte7i6ely_mondo_relaxed.owl negative regulation of SPT|downregulation of SPT|down regulation of SPT|down-regulation of SPT|inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|downregulation of 3-oxosphinganine synthetase activity|negative regulation of 3-oxosphinganine synthetase activity|inhibition of 3-oxosphinganine synthetase activity|down regulation of serine C-palmitoyltransferase activity|inhibition of SPT|down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of 3-oxosphinganine synthetase activity|down-regulation of serine C-palmitoyltransferase activity|down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of 3-oxosphinganine synthetase activity|negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|downregulation of serine C-palmitoyltransferase activity|inhibition of serine C-palmitoyltransferase activity|down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating owl:Class UBERON:0001344 biolink:NamedThing epithelium of vagina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018266 biolink:NamedThing ataxia - telangiectasia variant Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. tmpte7i6ely_mondo_relaxed.owl v-AT ICD10:G11.3|UMLS:C1876175|Orphanet:370109 owl:Class MONDO:0018329 biolink:NamedThing persistent combined dystonia tmpte7i6ely_mondo_relaxed.owl Orphanet:391711|ICD10:G24.1 owl:Class MONDO:0004519 biolink:NamedThing synovial angioma A rare hemangioma arising from synovium lining surfaces. tmpte7i6ely_mondo_relaxed.owl hemangioma of synovium|angioma of synovium|hemangioma of layer of synovial tissue|layer of synovial tissue hemangioma|angioma of the synovium|synovial hemangioma|hemangioma of the synovium DOID:8274|UMLS:C1336546|NCIT:C6525 owl:Class MONDO:0006322 biolink:NamedThing non-neoplastic bile duct disorder A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia. tmpte7i6ely_mondo_relaxed.owl non-neoplastic bile duct disorder UMLS:C3275160|EFO:1000400|NCIT:C35774 owl:Class MONDO:0033558 biolink:NamedThing autoinflammation, immune dysregulation, and eosinophilia tmpte7i6ely_mondo_relaxed.owl AIIDE|AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA|Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia OMIM:618999 owl:Class CL:0002332 biolink:NamedThing ciliated cell of the bronchus A ciliated cell of the bronchus. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-20T02:21:12Z cell owl:Class CL:0002328 biolink:NamedThing bronchial epithelial cell An epithelial cell of the bronchus. tmpte7i6ely_mondo_relaxed.owl BTO:0002922 tmeehan 2010-09-20T02:00:00Z cell owl:Class HGNC:18873 biolink:NamedThing IFIH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013391 biolink:NamedThing sterol carrier protein 2 deficiency A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. tmpte7i6ely_mondo_relaxed.owl SCP2 deficiency|leukoencephalopathy with dystonia and motor neuropathy|leukoencephalopathy-dystonia-motor neuropathy syndrome|sterol carrier protein 2 deficiency|leukoencephalopathy - dystonia - motor neuropathy|LKDMN Orphanet:163684|UMLS:C3150990|GARD:0012471|OMIM:613724|ICD10:E75.2 owl:Class MONDO:0019233 biolink:NamedThing disorder of peroxisomal beta oxidation tmpte7i6ely_mondo_relaxed.owl disorder of peroxisomal beta oxidation UMLS:CN227598|GARD:0012470|ICD10:E71.3|Orphanet:79188 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder owl:Class MONDO:0009050 biolink:NamedThing Cushing disease due to pituitary adenoma Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. tmpte7i6ely_mondo_relaxed.owl pituitary corticotroph micro-adenoma|PITA4|Cushing disease|ACTH producing pituitary adenoma|pituitary adenoma 4, ACTH-secreting|Cushing disease, pituitary|pituitary dependent Cushing syndrome|corticotroph adenoma|Corticotropinoma|Cushing's disease|ACTH-secreting pituitary adenoma|corticotroph pituitary adenoma|pituitary adenoma, ACTH-secreting|pituitary-dependent Cushing syndrome SCTID:254958004|MESH:D049913|OMIM:219090|ICD10:E24.0|MedDRA:10035109|UMLS:C1306214|UMLS:C0010481|DOID:7004|Orphanet:96253|ICD10:D35.2|NCIT:C113210|UMLS:C0221406|GARD:0012867|NCIT:C7462 https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma owl:Class MONDO:0044781 biolink:NamedThing nephrotic syndrome of childhood - steroid sensitive Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome of childhood - steroid sensitive|steroid-responsive nephrotic syndrome|steroid-sensitive nephrotic syndrome UMLS:C0403396|SCTID:236380004|NCIT:C122797 owl:Class MONDO:0044765 biolink:NamedThing steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. tmpte7i6ely_mondo_relaxed.owl steroid-resistant nephrotic syndrome|nephrotic syndrome, steroid-resistant, autosomal recessive|steroid-unresponsive nephrotic syndrome|nephrotic syndrome, idiopathic, steroid-resistant|nephrotic syndrome of childhood - steroid resistant|SRNS - steroid-resistant nephrotic syndrome|nephrotic syndrome-steroid-resistant|NPHS2 NCIT:C122798|UMLS:CN034406|GTR:AN0096391|GTR:AN0096395|SCTID:236381000|GTR:AN0200342|GTR:AN0255485 owl:Class MONDO:0003393 biolink:NamedThing thymus gland disorder A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma. tmpte7i6ely_mondo_relaxed.owl thymus disease|Thymus disorder|disease of thymus gland|disorder of thymus gland|disease of thymus|thymus disorder|disease or disorder of thymus|thymus disease or disorder|disorder of thymus ICD10:E32.9|ICD10:E32|ICD9:254.9|DOID:533|ICD9:254|SCTID:20673009|NCIT:C26962|UMLS:C0154199 owl:Class MONDO:0013825 biolink:NamedThing congenital diarrhea 6 Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene. tmpte7i6ely_mondo_relaxed.owl DIAR6|GUCY2C congenital diarrhea|congenital diarrhea caused by mutation in GUCY2C|congenital diarrhea type 6|diarrhea 6|diarrhea type 6|chronic diarrhea due to guanylate cyclase 2C overactivity Orphanet:314373|DOID:0060780|OMIM:614616|ICD10:P78.3|UMLS:C3553270 owl:Class MONDO:0016268 biolink:NamedThing papillary carcinoma of the corpus uteri A papillary carcinoma that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl body of uterus papillary carcinoma|endometrial capillary carcinoma UMLS:CN201057|ICD10:C54.1|Orphanet:213726 Editor note: check relationship to MONDO:0006196 owl:Class MONDO:0000820 biolink:NamedThing cerebral cavernous malformation A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. tmpte7i6ely_mondo_relaxed.owl cerebral capillary malformations|cavernous angiomatous malformations|brain cavernous hemangioma|familial cavernous angioma|cerebral cavernous malformation|CCM DOID:0060669|Orphanet:164|NCIT:C84626 owl:Class MONDO:0003630 biolink:NamedThing pancreatic serous cystadenocarcinoma A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain. tmpte7i6ely_mondo_relaxed.owl serous cystadenocarcinoma of pancreas|pancreas serous adenocarcinoma|serous cystadenocarcinoma of the pancreas|pancreatic serous cystadenocarcinoma ICD10:C25.1|UMLS:C1335315|DOID:5751|ICD10:C25.7|ICD10:C25.8|NCIT:C5724|ICD10:C25.0|ICD10:C25.2|Orphanet:424073 owl:Class HGNC:795 biolink:NamedThing ATM tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003922 biolink:NamedThing pancreatic epithelial bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007499 biolink:NamedThing epithelial sac tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006122 biolink:NamedThing calcifying nested epithelial stromal tumor of the liver A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present. tmpte7i6ely_mondo_relaxed.owl NCIT:C96830|ICDO:8975/1|EFO:1000149|UMLS:C3273067 owl:Class CHEBI:35785 biolink:NamedThing sphingoid Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds. tmpte7i6ely_mondo_relaxed.owl sphingoid base|sphingoids|Spd|sphingoid bases|sphingoid owl:Class CHEBI:26739 biolink:NamedThing sphingolipid Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. tmpte7i6ely_mondo_relaxed.owl sphingolipids owl:Class MONDO:0003600 biolink:NamedThing cutaneous liposarcoma A malignant adipose tissue neoplasm of the skin. tmpte7i6ely_mondo_relaxed.owl cutaneous liposarcoma|liposarcoma of the skin|liposarcoma of zone of skin|liposarcoma of skin|zone of skin liposarcoma|skin liposarcoma NCIT:C5615|UMLS:C1333175|DOID:5712 owl:Class MONDO:0012127 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2J|limb-girdle muscular dystrophy type 2J|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN|LGMD2J|TTN autosomal recessive limb-girdle muscular dystrophy Orphanet:140922|MESH:C563854|DOID:0110283|OMIM:608807|UMLS:C1837342|ICD10:G71.0|GARD:0012534 owl:Class MONDO:0016191 biolink:NamedThing qualitative or quantitative defects of titin tmpte7i6ely_mondo_relaxed.owl Orphanet:209053 owl:Class MONDO:0013718 biolink:NamedThing nephronophthisis 13 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. tmpte7i6ely_mondo_relaxed.owl nephronophthisis type 13|NPHP13|nephronophthisis 13 DOID:0111121|Orphanet:655|UMLS:C3280612|OMIM:614377 owl:Class MONDO:0019005 biolink:NamedThing nephronophthisis Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. tmpte7i6ely_mondo_relaxed.owl nephronophthisis (disease)|nephronophthisis|medullary cystic kidney|medullary cystic disease nephronophthisis (disease) NCIT:C123200|UMLS:C2939174|OMIM:604387|OMIM:614377|HP:0000090|OMIM:615382|OMIM:613824|OMIMPS:256100|OMIM:606966|GARD:0000206|ICD10:Q61.5|OMIM:256100|OMIM:602088|OMIM:615862|OMIM:611498|UMLS:C0687120|OMIM:613820|DOID:12712|Orphanet:655|OMIM:613159 owl:Class MONDO:0006665 biolink:NamedThing chronic atrophic gastritis Atrophic gastritis that is persistent and long-standing. tmpte7i6ely_mondo_relaxed.owl atrophic Gastritides|atrophic gastritis|gastric atrophy|Gastritides, atrophic ICD9:535.10|ICD9:535.11|EFO:1000826|ICD9:535.1|MESH:D005757|DOID:8929|MedDRA:10003685|ICD10:K29.4|SCTID:84568007|NCIT:C7405 owl:Class MONDO:0005001 biolink:NamedThing chronic gastritis Inflammation of the stomach that is chronic in nature. tmpte7i6ely_mondo_relaxed.owl chronic gastritis|chronic gastritis (disease)|gastritis (disease), chronic chronic gastritis (disease) MESH:D005756|ICD9:535.4|DOID:4029|ICD9:535.41|NCIT:C26929|EFO:0000337|UMLS:C0085695|ICD9:535.40|HP:0005231|SCTID:8493009 owl:Class MONDO:0018786 biolink:NamedThing pontine autosomal dominant microangiopathy with leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl PADMAL Orphanet:477749 owl:Class HP:0012757 biolink:NamedThing Abnormal neuron morphology A structural anomaly of a neuron. tmpte7i6ely_mondo_relaxed.owl Abnormal neuronal morphology|Abnormal neuron shape UMLS:C4022739 peter 2014-04-02T05:12:30Z human_phenotype owl:Class HP:0012639 biolink:NamedThing Abnormal nervous system morphology A structural anomaly of the nervous system. tmpte7i6ely_mondo_relaxed.owl Abnormal shape of nervous system|Abnormality of nervous system morphology|Abnormal nervous system morphology Fyler:4300|Fyler:4135|UMLS:C4022810 peter 2014-01-19T08:03:08Z human_phenotype owl:Class GO:0032869 biolink:NamedThing cellular response to insulin stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071375 biolink:NamedThing cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpte7i6ely_mondo_relaxed.owl cellular response to polypeptide hormone stimulus owl:Class MONDO:0008900 biolink:NamedThing camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. tmpte7i6ely_mondo_relaxed.owl camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia|camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia GARD:0001064|Orphanet:1321|OMIM:211930|MESH:C537974|ICD10:Q87.2 owl:Class MONDO:0009477 biolink:NamedThing Stromme syndrome An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). tmpte7i6ely_mondo_relaxed.owl lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|CILD31|ciliary dyskinesia, primary, 31, formerly|primary ciliary dyskinesia 31|STROMS|jejunal atresia-microcephaly-ocular anomalies syndrome|ciliary dyskinesia, primary, type 31|jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|ciliary dyskinesia, primary, 31|Stromme syndrome OMIM:243605|MESH:C565460|OMIM:616369|ICD10:Q87.8|UMLS:CN237682|EFO:0009160|DOID:0110595|Orphanet:506307|Orphanet:444069 owl:Class MONDO:0014658 biolink:NamedThing severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). tmpte7i6ely_mondo_relaxed.owl severe achondroplasia with developmental delay and acanthosis nigricans|SADDAN|SADDAN dysplasia|achondroplasia, severe, with developmental delay and acanthosis nigricans SCTID:699870002|ICD9:757.39|GARD:0009443|DOID:0111158|PMID:10053006|Orphanet:85165|url:https://ghr.nlm.nih.gov/condition/saddan|OMIM:616482|ICD9:783.40|ICD10:Q77.4 owl:Class MONDO:0001820 biolink:NamedThing focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. tmpte7i6ely_mondo_relaxed.owl circumscribed labyrinthitis ICD9:386.32|DOID:13867|SCTID:61794006|UMLS:C0155505 owl:Class MONDO:0002008 biolink:NamedThing labyrinthitis Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. tmpte7i6ely_mondo_relaxed.owl otitis interna|inner ear infection|internal ear inflammation|inflammation of internal ear NCIT:C128369|ICD9:386.30|ICD9:386.3|ICD10:H83.09|MESH:D007762|SCTID:23919004|ICD10:H83.0|UMLS:C0022893|DOID:3930|DOID:1468 Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. owl:Class MONDO:0003157 biolink:NamedThing disappearing bone disease Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. tmpte7i6ely_mondo_relaxed.owl essential osteolysis|massive osteolysis|phantom bone disease|Gorham's disease|Gorham-Stout syndrome ICD9:733.09|UMLS:C0029436|DOID:4837|SCTID:240161003 owl:Class MONDO:0013706 biolink:NamedThing intellectual disability, autosomal recessive 23 tmpte7i6ely_mondo_relaxed.owl MRT23|intellectual disability, autosomal recessive 23|mental retardation, autosomal recessive 23 UMLS:C3280542|OMIM:614344 owl:Class MONDO:0021260 biolink:NamedThing sensory ganglionopathy A disease or disorder that involves the sensory ganglion. tmpte7i6ely_mondo_relaxed.owl disease of sensory ganglion|disorder of sensory ganglion|disease or disorder of sensory ganglion|sensory ganglion disease|sensory ganglion disease or disorder owl:Class MONDO:0009683 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. tmpte7i6ely_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy type 2H|muscular dystrophy Hutterite type|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|limb-girdle muscular dystrophy type 2H|muscular dystrophy, limb-girdle, type 2H|limb-girdle muscular dystrophy due to TRIM32 deficiency|Sarcotubular myopathy|LGMD2H|muscular dystrophy limb-girdle type 2H|TRIM32 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, Hutterite type|sarcotubular myopathy Orphanet:1878|OMIM:254110|GARD:0003844|ICD10:G71.0|DOID:0110282|UMLS:C0270968|MESH:C535897|ICD9:359.89|SCTID:43226001 owl:Class UBERON:0006923 biolink:NamedThing vagina squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018257 biolink:NamedThing familial syringomyelia An instance of syringomyelia that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary syringomyelia ICD10:Q06.4|Orphanet:370034|UMLS:CN204832 owl:Class MONDO:0020508 biolink:NamedThing primary syringomyelia tmpte7i6ely_mondo_relaxed.owl congenital syringomyelia ICD10:Q06.4|UMLS:C1299627|SCTID:371076006|UMLS:C0039144|Orphanet:99856 owl:Class MONDO:0021324 biolink:NamedThing malignant neoplasm of abdominal esophagus A cancer that involves the abdominal part of esophagus. tmpte7i6ely_mondo_relaxed.owl malignant abdominal part of esophagus neoplasm|malignant neoplasm of the abdominal esophagus|cancer of abdominal part of esophagus|abdominal part of esophagus cancer|malignant tumor of the abdominal esophagus|malignant neoplasm of abdominal part of esophagus NCIT:C4764|ICD9:150.2|UMLS:C0496775|SCTID:187724003 owl:Class MONDO:0012847 biolink:NamedThing autosomal recessive congenital ichthyosis 6 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. tmpte7i6ely_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive, Nipal4-related|ichthyosis, congenital, autosomal recessive 6|ARCI6|ichthyosis, congenital, autosomal recessive type 6|autosomal recessive congenital ichthyosis type 6 ICD10:Q80.2|UMLS:C2677065|OMIM:612281|Orphanet:313|Orphanet:79394|DOID:0060715 owl:Class HGNC:3381 biolink:NamedThing EPB42 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:46839 biolink:NamedThing Colorado tick fever virus tmpte7i6ely_mondo_relaxed.owl CTFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2748762 biolink:NamedThing Colorado tick fever coltivirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019359 biolink:NamedThing Rocky mountain spotted fever Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). tmpte7i6ely_mondo_relaxed.owl Fiebre maculosa|sao Paulo typhus|Choix|RMSF|Tick typhus|exanthematic typhus of sao Paulo|So Paulo fever|Fiebre manchada|Brazillian spotted|Tobia fever MESH:D012373|ICD10:A77.0|DOID:0050052|NCIT:C128410|GARD:0007585|UMLS:C0035793|Orphanet:83311|MedDRA:10039207|SCTID:186772009 https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever owl:Class MONDO:0005747 biolink:NamedThing enterovirus infectious disease An disease caused by infection with Enterovirus. tmpte7i6ely_mondo_relaxed.owl Enterovirus infectious disease|enterovirus infectious disease|Enterovirus infection|infection, Enterovirus|infections, Enterovirus|Enterovirus disease or disorder|disease due to enterovirus|enteroviral infection|disease caused by enterovirus|Enterovirus caused disease or disorder|enterovirus infection SCTID:53648006|EFO:0007255|ICD9:079.89|MESH:D004769|UMLS:C0014378 owl:Class MONDO:0005914 biolink:NamedThing Picornaviridae infectious disease Virus diseases caused by the picornaviridae. tmpte7i6ely_mondo_relaxed.owl infections, Picornaviridae|Picornaviridae infection UMLS:C0031887|MESH:D010850|EFO:0007438 owl:Class MONDO:0008209 biolink:NamedThing Char syndrome Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. tmpte7i6ely_mondo_relaxed.owl patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits|patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|CHAR|Char|CHAR syndrome|Char syndrome DOID:0060563|OMIM:169100|ICD10:Q87.8|UMLS:C1868570|GARD:0001237|Orphanet:46627|SCTID:703534001|ICD9:759.89|MESH:C566815 https://rarediseases.info.nih.gov/diseases/1237/char-syndrome owl:Class MONDO:0011827 biolink:NamedThing patent ductus arteriosus A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. tmpte7i6ely_mondo_relaxed.owl patent ductus arteriosus familial (type)|patent ductus botalli|ductus arteriosus, patent|PDA|persistent patency of the arterial duct|patency of the ductus arteriosus|patent ductus arteriosus ICD10:Q25.0|SCTID:83330001|Orphanet:706|MESH:D004374|GARD:0007342|OMIMPS:607411|DOID:13832|ICD9:747.0|NCIT:C84492|OMIM:607411 https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus owl:Class MONDO:0004902 biolink:NamedThing interstitial keratitis tmpte7i6ely_mondo_relaxed.owl ICD9:370.50|DOID:9857|ICD10:H16.30|UMLS:C0155088 owl:Class MONDO:0003900 biolink:NamedThing connective tissue disorder A disease involving the connective tissue. tmpte7i6ely_mondo_relaxed.owl connective tissue disorders|disease of connective tissue|disease, connective tissue|primary disorder of connective tissue|disease or disorder of connective tissue|connective tissue disease|connective tissue diseases|tissue disease, connective|connective tissue disease or disorder|disorder of connective tissue|connective tissue disorder DOID:65|SCTID:105969002|MESH:D003240|NCIT:C26729|UMLS:C0009782 Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0010532 biolink:NamedThing infantile-onset X-linked spinal muscular atrophy A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy with arthrogryposis|spinal muscular atrophy, X-linked 2|arthrogryposis multiplex congenita, distal, X-linked|X-linked spinal muscular atrophy type 2|SMAX2|X-linked distal arthrogryposis multiplex congenita|AMC, distal, X-linked|spinal muscular atrophy, infantile X-linked|spinal muscular atrophy, X-linked type 2|spinal muscular atrophy, X-linked lethal infantile|arthrogryposis, X-linked, type 1 ICD10:G12.1|OMIM:301830|GARD:0008521|SCTID:719836007|MESH:C535380|Orphanet:1145|UMLS:C1844934 owl:Class MONDO:0021385 biolink:NamedThing extrahepatic bile duct neoplasm A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct tumor|neoplasm of extrahepatic bile duct|tumor of extrahepatic bile duct|extrahepatic bile duct neoplasm (disease)|neoplasm of the extrahepatic bile duct|extrahepatic bile duct neoplasm|tumor of the extrahepatic bile duct NCIT:C4441|UMLS:C0345913|SCTID:126855001 https://github.com/monarch-initiative/mondo/issues/3673 owl:Class UBERON:0004435 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004421 biolink:NamedThing proximal epiphysis of phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013828 biolink:NamedThing hyperekplexia 2 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene. tmpte7i6ely_mondo_relaxed.owl hereditary hyperekplexia caused by mutation in GLRB|hyperekplexia type 2|HKPX2|GLRB hereditary hyperekplexia|hyperekplexia 2 ICD10:G25.8|DOID:0060697|OMIM:614619|Orphanet:3197|UMLS:C3553291 owl:Class MONDO:0021022 biolink:NamedThing hereditary hyperekplexia Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. tmpte7i6ely_mondo_relaxed.owl Stiff baby syndrome|hereditary hyperexplexia|hereditary hyperekplexia|hyperexplexia hereditary|Kok disease|congenital stiff man syndrome|familial startle disease|startle disease|hyperekplexia GARD:0003129|OMIMPS:149400|DOID:0060695|OMIM:614619|OMIM:614618|OMIM:149400|Orphanet:3197|ICD10:G25.8|SCTID:724351008 owl:Class MONDO:0012316 biolink:NamedThing Majeed syndrome Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. tmpte7i6ely_mondo_relaxed.owl CDA and CRMO|Majeed syndrome|chronic recurrent multifocal osteomyelitis, congenital|dyserythropoietic anemia, and neutrophilic dermatosis|chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|MAJEED syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|MJDS SCTID:703540008|ICD9:759.89|NCIT:C119058|UMLS:C1864997|MedDRA:10072223|GARD:0010088|Orphanet:77297|OMIM:609628|MESH:C537839 https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome owl:Class MONDO:0015135 biolink:NamedThing primary immunodeficiency due to a genetic defect in innate immunity tmpte7i6ely_mondo_relaxed.owl primary immunodeficiency due to a defect in innate immunity Orphanet:101988 owl:Class GO:0033692 biolink:NamedThing cellular polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl cellular glycan biosynthesis|cellular polysaccharide formation|cellular polysaccharide synthesis|cellular glycan biosynthetic process|cellular polysaccharide anabolism|cellular polysaccharide biosynthesis owl:Class MONDO:0003481 biolink:NamedThing dysgerminoma of ovary A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage. tmpte7i6ely_mondo_relaxed.owl dysgerminoma of ovary|germ cell dysgerminoma of the ovary|germ cell dysgerminoma of ovary|dysgerminoma|dysgerminoma of the ovary|ovary dysgerminoma (disease)|ovarian dysgerminoma|ovarian germ cell dysgerminoma NCIT:C8106|DOID:5511|SCTID:254874008|ONCOTREE:ODYS|UMLS:C0346185|EFO:1000414 owl:Class MONDO:0003408 biolink:NamedThing ovarian primitive germ cell tumor A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. tmpte7i6ely_mondo_relaxed.owl ovarian primitive germ cell tumor DOID:5351|NCIT:C39986|UMLS:C1518727 owl:Class MONDO:0004848 biolink:NamedThing ulcerative stomatitis Inflammation of the mouth mucosa associated with the presence of ulcers. tmpte7i6ely_mondo_relaxed.owl ulcerative stomatitis ICD10:K12.1|ICD9:528.00|DOID:9673|SCTID:450005|NCIT:C35039|UMLS:C0038367 owl:Class MONDO:0025129 biolink:NamedThing swine erysipelas An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa. tmpte7i6ely_mondo_relaxed.owl erysipelas, swine MESH:D013554|UMLS:C0039007 owl:Class MONDO:0024990 biolink:NamedThing swine disease Diseases of domestic swine and of the wild boar of the genus Sus. tmpte7i6ely_mondo_relaxed.owl swine disease|disease, swine|diseases, swine MESH:D013553|UMLS:C0039006 owl:Class MONDO:0013250 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 85 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 85|autosomal recessive nonsyndromic deafness 85|DFNB85|deafness, autosomal recessive 85|autosomal recessive nonsyndromic deafness type 85 DOID:0110531|OMIM:613392|ICD10:H90.3|UMLS:C3160740 owl:Class UBERON:0019231 biolink:NamedThing manual digit 1 or 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002389 biolink:NamedThing manual digit tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004261 biolink:NamedThing lower leg blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017543 biolink:NamedThing zygodactyly type 2 tmpte7i6ely_mondo_relaxed.owl syndactyly type 1b|Zygodactyly, Lueken type|SD1b|SD1, Lueken type|syndactyly type 1, Lueken type ICD10:Q70.2|UMLS:CN203275|ICD10:Q70.0|ICD10:Q70.1|Orphanet:295189|ICD10:Q70.3 owl:Class MONDO:0008512 biolink:NamedThing syndactyly type 1 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. tmpte7i6ely_mondo_relaxed.owl craniosynostosis, Philadelphia type|syndactyly, type 1|SDTY1|chromosome 2q35 DUPLICATION syndrome|Zygodactyly|Sd1 ICD10:Q70.2|ICD10:Q70.3|OMIM:185900|Orphanet:93402|ICD10:Q70.0|GARD:0005081|Orphanet:1527|ICD10:Q70.1|SCTID:715723008|UMLS:C1861380|OMIM:609815|UMLS:C4275033 owl:Class GO:0050867 biolink:NamedThing positive regulation of cell activation Any process that activates or increases the frequency, rate or extent of activation. tmpte7i6ely_mondo_relaxed.owl activation of cell activation|upregulation of cell activation|up-regulation of cell activation|stimulation of cell activation|up regulation of cell activation owl:Class HGNC:3586 biolink:NamedThing FANCE tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6663 biolink:NamedThing LORICRIN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022284 biolink:NamedThing lacrimal gland bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005153 biolink:NamedThing epithelial bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014480 biolink:NamedThing 46,XY sex reversal 9 tmpte7i6ely_mondo_relaxed.owl 46,XY Sex reversal type 9|SRXY9|46,XY Sex reversal, Zfpm2-related|46,XY sex reversal 9|46,XY SEX reversal 9 Orphanet:251510|DOID:0111770|OMIM:616067|UMLS:C4015129 owl:Class MONDO:0016674 biolink:NamedThing 46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. tmpte7i6ely_mondo_relaxed.owl 46,XY partial testicular dysgenesis|46,XY PGD OMIM:613762|OMIM:616425|SCTID:725045004|OMIM:154230|OMIM:615542|OMIM:616067|OMIM:612965|OMIM:300018|ICD10:Q56.1|UMLS:C4510744|Orphanet:251510 Editor note: todo - make disjoint with complete form (some classes inherit from both) owl:Class HGNC:21158 biolink:NamedThing RNF135 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002085 biolink:NamedThing benign shuddering attacks tmpte7i6ely_mondo_relaxed.owl SCTID:446995005|ICD10:G25.83|ICD9:333.93|UMLS:C0375200|DOID:1713 owl:Class MONDO:0014557 biolink:NamedThing ataxia - oculomotor apraxia type 4 Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene. tmpte7i6ely_mondo_relaxed.owl AOA4|PNKP oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia 4|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP|ataxia - oculomotor apraxia type 4|ataxia-oculomotor apraxia-4 Orphanet:459033|UMLS:C4225397|EFO:0009016|OMIM:616267|GARD:0013111 https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4 owl:Class MONDO:0010657 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblX tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 3|methylmalonic acidemia and homocysteinemia type cblX|methylmalonic aciduria with homocystinuria, type cblX|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|mental retardation, X-linked 3|methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type MESH:C563136|GARD:0013137|Orphanet:369962|UMLS:C0796208|ICD10:E71.1|OMIM:309541 owl:Class MONDO:0019181 biolink:NamedThing non-syndromic X-linked intellectual disability Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX. tmpte7i6ely_mondo_relaxed.owl isolated X-linked intellectual disability|non-specific X-linked mental retardation|X-linked non-syndromic intellectual disability|non-syndromic intellectual disability, X-linked|non-specific X-linked intellectual disability|mental retardation, X-linked, nonsyndromic|X-linked non-specific intellectual disability|non-syndromic X-linked intellectual disability|intellectual disability, X-linked, nonsyndromic|nonsyndromic X-linked intellectual disability|mental retardation, nonsyndromic, X-linked|intellectual disability, nonsyndromic, X-linked OMIM:300428|OMIM:300848|DOID:0050776|OMIM:300143|OMIM:300324|OMIM:300433|OMIM:300803|OMIM:300210|OMIM:300852|OMIM:300849|OMIM:300984|OMIM:300355|OMIM:300919|OMIMPS:309530|OMIM:300844|OMIM:300046|OMIM:300115|OMIM:300983|OMIM:300271|OMIM:300558|OMIM:300114|OMIM:309549|OMIM:300436|OMIM:309530|OMIM:300387|OMIM:300928|OMIM:300518|OMIM:300716|OMIM:300802|OMIM:300454|OMIM:300504|GARD:0003542|MESH:C564490|Orphanet:777|OMIM:300505|OMIM:300851|OMIM:300047|OMIM:300705|OMIM:300419|OMIM:300372|OMIM:300978|OMIM:300062|OMIM:300850|OMIM:300498|UMLS:C3501611 owl:Class GO:0043292 biolink:NamedThing contractile fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpte7i6ely_mondo_relaxed.owl contractile fibre owl:Class GO:0090154 biolink:NamedThing positive regulation of sphingolipid biosynthetic process Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004194 biolink:NamedThing ovarian stromal hyperthecosis A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. tmpte7i6ely_mondo_relaxed.owl UMLS:C1518743|DOID:7347|NCIT:C40446 owl:Class MONDO:0022458 biolink:NamedThing annular constricting bands A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand. tmpte7i6ely_mondo_relaxed.owl GARD:0000704 https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands owl:Class MONDO:0016368 biolink:NamedThing Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. tmpte7i6ely_mondo_relaxed.owl RTS1|ROTHMUND-THOMSON SYNDROME, TYPE 1|Poikiloderma Atrophicans and Cataract|poikiloderma of Rothmund-Thomson type 1 UMLS:CN201233|ICD10:Q82.8|OMIM:618625|Orphanet:221008 MONDO:0032840 owl:Class MONDO:0010002 biolink:NamedThing Rothmund-Thomson syndrome Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. tmpte7i6ely_mondo_relaxed.owl poikiloderma atrophicans and cataract|Rothmund-Thomson syndrome|RTS|poikiloderma of Rothmund-Thomson|poikiloderma congenitale|congenital poikiloderma ICD9:759.89|MESH:D011038|UMLS:C0032339|OMIMPS:268400|SCTID:69093006|ICD10:Q82.8|GARD:0004392|Orphanet:2909|DOID:2732|NCIT:C3335 Editor note: check whether properties apply to both 1 and 2, or just type 2 owl:Class HGNC:4415 biolink:NamedThing GNMT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020528 biolink:NamedThing ACTH-dependent Cushing syndrome Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). tmpte7i6ely_mondo_relaxed.owl pituitary Cushing disease|adrenocorticotropic hormone, inappropriate secretion|pituitary-dependent Cushing disease|pituitary-dependent Cushing's disease|adrenocorticotropic hormone-dependent Cushing syndrome|ACTH hypersecretion, pituitary|corticotropin-dependent Cushing syndrome|ACTH-dependent CS|pituitary Cushing diseases|overproduction of ACTH|pituitary Cushing syndrome DOID:3946|EFO:1001110|UMLS:C0342442|ICD10:E24.0|MedDRA:10035109|SCTID:237734007|Orphanet:99892|SCTID:190502001|MESH:D047748 owl:Class MONDO:0018912 biolink:NamedThing Cushing syndrome Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. tmpte7i6ely_mondo_relaxed.owl adrenal hyperfunction resulting from pituitary ACTH excess|ectopic adrenocorticotropic hormone syndrome|suprarenogenic syndrome|nodular primary adrenocortical dysplasia|hypercortisolism|Cushing's syndrome|hyperadrenocorticism|Cushing syndrome|pituitary basophilism|cortisol Excess ICD10:E24.9|ICD10:E24.8|MedDRA:10020564|GARD:0006224|MESH:D003480|ICD10:E24.1|UMLS:C0010481|ICD9:255.0|ICD10:E24.2|NCIT:C2969|Orphanet:553|ICD10:E24.4|MedDRA:10011652|MedDRA:10020562|EFO:0003099|ICD10:E24|MedDRA:10020610|OMIM:219090|ICD10:E24.0|ICD10:E24.3 Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form owl:Class MONDO:0005542 biolink:NamedThing acute coronary syndrome Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. tmpte7i6ely_mondo_relaxed.owl coronary syndrome, acute|syndrome, acute coronary|syndromes, acute coronary|coronary syndromes, acute|acute coronary syndrome|acute coronary syndromes SCTID:394659003|MESH:D054058|UMLS:C0948089|NCIT:C53652|EFO:0005672 owl:Class MONDO:0024644 biolink:NamedThing myocardial ischemia A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). tmpte7i6ely_mondo_relaxed.owl diseases, ischemic heart|ischemia, myocardial|myocardium ischemic disease|ischemic heart disease|disease, ischemic heart|IHD|heart disease, ischemic|ischemias, myocardial|ischemic heart diseases|ischemic disease of myocardium|myocardial Ischemias|heart diseases, ischemic EFO:1001375|NCIT:C50625|UMLS:C0151744|SCTID:414545008|ICD10:I20.I25|MESH:D017202 owl:Class CHEBI:138015 biolink:NamedThing endocrine disruptor Any compound that can disrupt the functions of the endocrine (hormone) system tmpte7i6ely_mondo_relaxed.owl hormonally active agent|endocrine-disrupting chemicals|endocrine-disrupting chemical|endocrine disrupting chemical|endocrine disruptors|endocrine disrupting chemicals|endocrine disrupting compounds|endocrine disrupting compound|hormonally active agents owl:Class CHEBI:51061 biolink:NamedThing hormone receptor modulator A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpte7i6ely_mondo_relaxed.owl hormone receptor modulators owl:Class UBERON:0001309 biolink:NamedThing internal iliac artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005609 biolink:NamedThing iliac artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903770 biolink:NamedThing negative regulation of beta-galactosidase activity Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity. tmpte7i6ely_mondo_relaxed.owl downregulation of maxilact|downregulation of beta-D-lactosidase activity|down regulation of trilactase activity|inhibition of lactozym|down-regulation of lactose hydrolysis|down regulation of beta-lactosidase activity|downregulation of beta-D-galactoside galactohydrolase activity|down-regulation of trilactase activity|downregulation of S 2107|negative regulation of maxilact|down-regulation of beta-lactosidase activity|negative regulation of sumiklat|down regulation of lactose hydrolysis|inhibition of lactose hydrolysis|down regulation of beta-D-galactoside galactohydrolase activity|down regulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of trilactase activity|inhibition of beta-D-lactosidase activity|down regulation of oryzatym|inhibition of trilactase activity|down-regulation of sumiklat|inhibition of S 2107|down regulation of beta-D-galactanase activity|negative regulation of hydrolact|inhibition of hydrolact|down-regulation of oryzatym|downregulation of beta-D-galactanase activity|inhibition of exo-(1->4)-beta-D-galactanase activity|downregulation of lactose hydrolysis|down regulation of lactozym|inhibition of sumiklat|down regulation of maxilact|down-regulation of beta-galactosidase activity|downregulation of beta-lactosidase activity|downregulation of lactozym|inhibition of beta-D-galactoside galactohydrolase activity|negative regulation of lactozym|negative regulation of beta-D-lactosidase activity|down regulation of beta-D-lactosidase activity|down regulation of sumiklat|down regulation of beta-galactosidase activity|downregulation of hydrolact|inhibition of beta-D-galactanase activity|down-regulation of S 2107|down-regulation of beta-D-galactanase activity|inhibition of oryzatym|downregulation of trilactase activity|inhibition of maxilact|downregulation of oryzatym|down-regulation of maxilact|down regulation of S 2107|down regulation of hydrolact|negative regulation of oryzatym|downregulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of S 2107|inhibition of beta-lactosidase activity|down-regulation of hydrolact|down-regulation of exo-(1->4)-beta-D-galactanase activity|down-regulation of beta-D-galactoside galactohydrolase activity|downregulation of beta-galactosidase activity|down-regulation of lactozym|negative regulation of beta-D-galactanase activity|negative regulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of beta-D-galactoside galactohydrolase activity|negative regulation of lactose hydrolysis|down-regulation of beta-D-lactosidase activity|inhibition of beta-galactosidase activity|negative regulation of beta-lactosidase activity|downregulation of sumiklat owl:Class GO:2000257 biolink:NamedThing regulation of protein activation cascade Any process that modulates the frequency, rate or extent of protein activation cascade. tmpte7i6ely_mondo_relaxed.owl regulation of protein activation pathway|regulation of protein activitory cascade owl:Class HGNC:30765 biolink:NamedThing TNIK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013098 biolink:NamedThing noise induced hearing loss A condition in which a person loses the ability to hear due to exposure to high intensity sound. tmpte7i6ely_mondo_relaxed.owl NIHL|noise-induced hearing loss|hearing loss, noise-induced, susceptibility to MESH:D006317|OMIM:613035|SCTID:73415002|NCIT:C34664|ICD9:388.12|EFO:1001254 owl:Class MONDO:0005365 biolink:NamedThing hearing loss disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. tmpte7i6ely_mondo_relaxed.owl hearing impairment|deafness|loss of hearing|hypoacusis|hearing loss|loss, hearing|hypoacuses UMLS:C1384666|ICD9:389|NCIT:C35731|ICD9:389.8|MESH:D034381|EFO:0004238|ICD10:H90|ICD9:389.9|SCTID:15188001 owl:Class MONDO:0021316 biolink:NamedThing malignant tumor of minor salivary gland A cancer that involves the minor salivary gland. tmpte7i6ely_mondo_relaxed.owl malignant minor salivary gland neoplasm|minor salivary gland cancer|malignant neoplasm of the minor salivary gland|cancer of minor salivary gland|malignant tumor of the minor salivary gland|malignant neoplasm of minor salivary gland|malignant minor salivary gland tumor NCIT:C4410|UMLS:C0345614|SCTID:363485006 owl:Class MONDO:0021370 biolink:NamedThing neoplasm of minor salivary gland A neoplasm (disease) that involves the minor salivary gland. tmpte7i6ely_mondo_relaxed.owl tumor of the minor salivary gland|neoplasm of minor salivary gland|tumor of minor salivary gland|minor salivary gland neoplasm (disease)|minor salivary gland tumor|minor salivary gland neoplasm|neoplasm of the minor salivary gland NCIT:C4409|UMLS:C0345613|SCTID:126798006 owl:Class PATO:0002288 biolink:NamedThing decreased elasticity An elasticity which is relatively low. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002303 biolink:NamedThing decreased object quality A quality of an object that has a value that is decreased compared to normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38077 biolink:NamedThing polypyrrole A compound composed of two or more pyrrole units. tmpte7i6ely_mondo_relaxed.owl PPys|polypyrroles|poly(pyrrole)s owl:Class CHEBI:38101 biolink:NamedThing organonitrogen heterocyclic compound Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. tmpte7i6ely_mondo_relaxed.owl heterocyclic organonitrogen compounds|organonitrogen heterocyclic compounds owl:Class MONDO:0012373 biolink:NamedThing ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features GARD:0009939|UMLS:C1864966|MESH:C536182|OMIM:609944 https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features owl:Class MONDO:0004100 biolink:NamedThing lung mixed small cell and squamous cell carcinoma A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl small cell and squamous cell carcinoma of the lung|small cell and large cell carcinoma of the lung|mixed small cell and squamous cell carcinoma of lung|mixed small cell and squamous cell carcinoma of the lung|combined small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung|small cell and squamous cell lung carcinoma NCIT:C9423|DOID:7081|UMLS:C1334788 owl:Class MONDO:0005454 biolink:NamedThing lung neuroendocrine neoplasm A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. tmpte7i6ely_mondo_relaxed.owl pulmonary neuroendocrine tumor|lung neuroendocrine tumor, well differentiated, low or intermediate grade|lung NET|lung neuroendocrine tumor|neuroendocrine neoplasm of lung|lung neuroendocrine neoplasm|pulmonary neuroendocrine neoplasm|neuroendocrine neoplasm of the lung NCIT:C5670|DOID:5410|UMLS:C1334452|EFO:0005220|SCTID:707594002|ONCOTREE:LNET|ICD9:209.61 owl:Class CHEBI:37622 biolink:NamedThing carboxamide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. tmpte7i6ely_mondo_relaxed.owl primary carboxamide|carboxamides owl:Class MONDO:0005256 biolink:NamedThing moderate heart failure Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest. tmpte7i6ely_mondo_relaxed.owl Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003148 owl:Class MONDO:0005254 biolink:NamedThing symptomatic heart failure A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc tmpte7i6ely_mondo_relaxed.owl EFO:0003146 owl:Class MONDO:0013964 biolink:NamedThing Diamond-Blackfan anemia 11 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene. tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan Anemia type 11|DBA11|RPL26 Diamond-Blackfan anemia|Diamond-Blackfan anemia 11|Diamond-Blackfan anemia caused by mutation in RPL26 OMIM:614900|UMLS:C3554042 owl:Class MONDO:0005817 biolink:NamedThing Kluver-Bucy syndrome Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. tmpte7i6ely_mondo_relaxed.owl post-encephalitic Kluver Bucy syndrome (type)|bilateral temporal lobe disorder|Kluver Bucy syndrome|memory loss, extreme sexual behavior, placidity, and visual distractibility|KLuever-Bucy syndrome|syndrome, Kluver-Bucy|Klver-Bucy syndrome|temporal lobectomy behavior syndrome|KLüver-Bucy syndrome|post-traumatic Kluver Bucy syndrome (type) Orphanet:157823|GARD:0006840|MESH:D020232|EFO:0007335|DOID:2510|SCTID:10651001|MedDRA:10066431|NCIT:C84802 MONDO:0015527 https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome owl:Class MONDO:0013066 biolink:NamedThing 46,XY sex reversal 3 tmpte7i6ely_mondo_relaxed.owl 46,XY sex reversal 3|46,XY Sex reversal, partial or complete, Nr5A1-related|disorder of Sex development, 46,XY, Nr5A1-related|46,XY SEX reversal 3|Sex reversal, XY, with or without adrenal failure|SRXY3|46,XY Sex reversal type 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure UMLS:C2751824|Orphanet:251510|OMIM:612965|DOID:0111772|Orphanet:242 owl:Class MONDO:0010765 biolink:NamedThing 46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. tmpte7i6ely_mondo_relaxed.owl 46,XY pure gonadal dysgenesis|46, XY complete gonadal dysgenesis|46, XY CGD|sex-reversing locus on X|testis-determining Factor, X-chromosomal|46,XY gonadal dysgenesis|46,XY SEX reversal|pure gonadal dysgenesis 46,XY|46, XY pure gonadal dysgenesis|gonadal dysgenesis, XY female type|46,XY CGD|Swyer syndrome|46 XY gonadal dysgenesis|sex-reversing locus on X, formerly OMIMPS:400044|SCTID:95218005|OMIM:607080|OMIM:616425|OMIM:614279|MESH:D006061|OMIM:400044|ICD10:Q99.1|GARD:0005068|OMIM:616067|OMIM:154230|MESH:C567574|MESH:C567575|UMLS:C0018054|DOID:14448|OMIM:300018|OMIM:612965|OMIM:613762|UMLS:C2936694|NCIT:C120198|Orphanet:242|OMIM:233420|OMIM:613080 owl:Class MONDO:0009383 biolink:NamedThing transient familial neonatal hyperbilirubinemia tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemia transient familial neonatal|transient familial hyperbilirubinemia|Lucey-Driscoll syndrome|breast milk jaundice|hyperbilirubinemia, transient familial neonatal|HBLRTFN MESH:C562692|OMIM:237900|GARD:0003304|GARD:0002791|ICD10:P59.8|UMLS:C0270210|Orphanet:2312 https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal owl:Class MONDO:0007168 biolink:NamedThing atelosteogenesis type III Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. tmpte7i6ely_mondo_relaxed.owl AOIII|Aoiii|atelosteogenesis type 3|AO3|atelosteogenesis, type 3|atelosteogenesis, type III MESH:C579928|OMIM:108721|SCTID:725142004|Orphanet:56305|ICD10:Q78.8|GARD:0010608 owl:Class NCBITaxon:35493 biolink:NamedThing Streptophyta tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33090 biolink:NamedThing Viridiplantae tmpte7i6ely_mondo_relaxed.owl chlorophyte/embryophyte group|Chlorobionta|Chlorophyta/Embryophyta group|Chloroplastida|green plants PMID:16248873|GC_ID:1|PMID:30257078 ncbi_taxonomy owl:Class MONDO:0008281 biolink:NamedThing polyposis, intestinal, scattered and discrete tmpte7i6ely_mondo_relaxed.owl polyps, scattered, discrete intestinal|polyposis, intestinal, scattered and discrete UMLS:C1868006|OMIM:175400 owl:Class MONDO:0005180 biolink:NamedThing Parkinson disease A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. tmpte7i6ely_mondo_relaxed.owl Parkinson disease|Parkinson's disease|paralysis agitans NIFSTD:birnlex_2098|OMIM:556500|DOID:14330|OMIM:300557|ICD9:332|OMIM:613164|MESH:D010300|KEGG:05012|UMLS:C0030567|OMIMPS:168600|EFO:0002508|OMIM:616710|SCTID:49049000|Orphanet:319705|OMIM:606852|OMIM:602404|Orphanet:2828|NCIT:C26845|ICD10:G20|OMIM:168600|OMIM:616361|ICD9:332.0 owl:Class MONDO:0006644 biolink:NamedThing alcoholic liver cirrhosis A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. tmpte7i6ely_mondo_relaxed.owl Laennec's cirrhosis, alcoholic|alcoholic cirrhosis of liver|Laennec's cirrhosis|portal cirrhosis|alcoholic cirrhosis ICD10:K70.3|CSP:1754-7677|EFO:1000802|MESH:D008104|UMLS:C0023891|UMLS:C1622502|SCTID:419728003|DOID:14018|ICD9:571.2|NCIT:C34782|MedDRA:10001618 owl:Class MONDO:0005155 biolink:NamedThing cirrhosis of liver A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. tmpte7i6ely_mondo_relaxed.owl cirrhosis of liver|cirrhosis|liver cirrhosis SCTID:19943007|ICD10:K74.60|OMIM:215600|UMLS:C0023890|DOID:5082|EFO:0001422|ICD9:571.5|MESH:D008103|NCIT:C2951 owl:Class MONDO:0003587 biolink:NamedThing pediatric liposarcoma A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. tmpte7i6ely_mondo_relaxed.owl liposarcoma|childhood liposarcoma|pediatric liposarcoma DOID:5695|NCIT:C8091|UMLS:C0279984 owl:Class MONDO:0006517 biolink:NamedThing childhood malignant neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). tmpte7i6ely_mondo_relaxed.owl malignant pediatric tumor|childhood neoplasm, malignant|childhood malignant neoplasm|malignant childhood tumor|malignant pediatric neoplasm|malignant neoplasm|malignant childhood neoplasm|childhood cancer|pediatric cancer UMLS:C0278704|NCIT:C4005|EFO:1000654 owl:Class GO:0048598 biolink:NamedThing embryonic morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. tmpte7i6ely_mondo_relaxed.owl embryonic anatomical structure morphogenesis owl:Class MONDO:0008678 biolink:NamedThing Williams syndrome Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) tmpte7i6ely_mondo_relaxed.owl Williams syndrome|Williams-Beuren syndrome (WBS)|WBS|WMS|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|monosomy 7q11.23|Fanconi Schlesinger syndrome|Williams-Beuren syndrome|deletion 7q11.23 GARD:0007891|MedDRA:10049644|NCIT:C85232|ICD10:Q87.8|SCTID:63247009|Orphanet:904|MESH:D018980|ICD9:759.89|OMIM:194050|UMLS:C0175702|DOID:1928 owl:Class HP:0002110 biolink:NamedThing Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. tmpte7i6ely_mondo_relaxed.owl Permanent enlargement of the airways of the lungs SNOMEDCT_US:12295008|UMLS:C0006267|MSH:D001987 human_phenotype owl:Class HP:0025426 biolink:NamedThing Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. tmpte7i6ely_mondo_relaxed.owl Abnormality of the bronchi 2017-04-23 12:50:43+00:00 HPO:probinson HP:0002109 human_phenotype owl:Class MONDO:0045044 biolink:NamedThing ligament disorder A disease or disorder that involves the ligament. tmpte7i6ely_mondo_relaxed.owl disease of ligament|disease or disorder of ligament|disorder of ligament|ligament disease or disorder UMLS:C0263976|SCTID:60492000 owl:Class UBERON:0009125 biolink:NamedThing petrosal placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003078 biolink:NamedThing epibranchial placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008300 biolink:NamedThing Prader-Willi syndrome Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. tmpte7i6ely_mondo_relaxed.owl Prader Willi syndrome|PWS|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet|Prader-Labhart-Willi syndrome|Prader-Willi-Labhart syndrome|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet|Willi-Prader syndrome|Prader-Willi-like syndrome associated with chromosome 6|Prader-Willi syndrome|Prader-Willi syndrome chromosome region ICD10:Q87.1|NCIT:C75463|DOID:11983|MedDRA:10036476|OMIM:176270|OMIM:615547|MESH:D011218|GARD:0005575|ICD9:759.81|UMLS:C0032897|Orphanet:739|SCTID:89392001 https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome owl:Class MONDO:0100038 biolink:NamedThing complex neurodevelopmental disorder A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). tmpte7i6ely_mondo_relaxed.owl complex neurodevelopmental disorder 2018-06-29 18:21:11+00:00 owl:Class GO:0016672 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces quinone or a related compound. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, quinone or similar compound as acceptor owl:Class GO:0016667 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors|oxidoreductase activity, acting on sulfur group of donors, other acceptors owl:Class HGNC:19688 biolink:NamedThing NECTIN4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045983 biolink:NamedThing positive regulation of purine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases. tmpte7i6ely_mondo_relaxed.owl activation of purine base metabolic process|up regulation of purine base metabolic process|up-regulation of purine base metabolic process|positive regulation of purine base metabolic process|stimulation of purine base metabolic process|positive regulation of purine base metabolism|upregulation of purine base metabolic process owl:Class GO:0006141 biolink:NamedThing regulation of purine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. tmpte7i6ely_mondo_relaxed.owl regulation of purine base metabolism|regulation of purine base metabolic process owl:Class UBERON:3010200 biolink:NamedThing vasculature of respiratory integument tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005447 biolink:NamedThing testicular cancer A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. tmpte7i6ely_mondo_relaxed.owl malignant testis neoplasm|testis neoplasm|testis cancer|cancer of testis|malignant testicular neoplasm|malignant tumor of the testis|testicular tumor|malignant tumor of testis|malignant neoplasm of the testis|malignant testicular tumor|malignant neoplasm of testis EFO:0005088|ICD9:186.9|SCTID:363449006|ICD9:186|NCIT:C7251|SCTID:126900000|ICD10:C62.90|OMIM:273300|GARD:0007746|ICD10:C62.9|ICD10:C62|NCIT:C3404|NCIT:C5053|MESH:D013736|DOID:2998 owl:Class MONDO:0021348 biolink:NamedThing neoplasm of testis A neoplasm (disease) that involves the testis. tmpte7i6ely_mondo_relaxed.owl tumor of the testis|tumor of testis|testis tumor|testicular tumor|testis neoplasm (disease)|neoplasm of testis|testicular neoplasm|neoplasm of the testis|testis neoplasm EFO:0004281|SCTID:126900000|ONCOTREE:TESTIS|ICD9:239.5|NCIT:C3404 owl:Class GO:1903561 biolink:NamedThing extracellular vesicle Any vesicle that is part of the extracellular region. tmpte7i6ely_mondo_relaxed.owl microparticle owl:Class GO:0031982 biolink:NamedThing vesicle Any small, fluid-filled, spherical organelle enclosed by membrane. tmpte7i6ely_mondo_relaxed.owl membrane-bounded vesicle|membrane-enclosed vesicle owl:Class MONDO:0008370 biolink:NamedThing reticular dystrophy of retinal pigment epithelium tmpte7i6ely_mondo_relaxed.owl reticular dystrophy of retinal pigment epithelium UMLS:C1867332|MESH:C566721|OMIM:179840|SCTID:723502001|Orphanet:99002 owl:Class MONDO:0009979 biolink:NamedThing reticular dystrophy of the retinal pigment epithelium Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. tmpte7i6ely_mondo_relaxed.owl retinal dystrophy, reticular pigmentary, of POSTERIOR POLE MESH:C564844|UMLS:C1867332|ICD10:H35.5|OMIM:179840|OMIM:267800|OMIM:617175|Orphanet:99002 owl:Class HGNC:30794 biolink:NamedThing CEP57 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009312 biolink:NamedThing lipodystrophy due to peptidic growth factors deficiency Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). tmpte7i6ely_mondo_relaxed.owl Hoepffner Dreyer Reimers syndrome|growth factors, combined defect OF|peptidic growth factors deficiency|Werner-like syndrome due to combined growth factor deficiency|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency|Hoepffner-Dreyer-Reimers syndrome|peptide growth factors deficiency|combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|Werner-like syndrome due to combined Growth Factor deficiency ICD10:E88.1|UMLS:C2931279|MESH:C565529|Orphanet:1979|SCTID:724176001|GARD:0004280|GARD:0012604|OMIM:233805 owl:Class MONDO:0023002 biolink:NamedThing double discordia tmpte7i6ely_mondo_relaxed.owl atrio-ventricular and ventriculo-arterial double Discordia|corrected transposition GARD:0001905 https://rarediseases.info.nih.gov/diseases/1905/double-discordia owl:Class UBERON:0000077 biolink:NamedThing mixed endoderm/mesoderm-derived structure tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15469 biolink:NamedThing DNAJC6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001384 biolink:NamedThing primary motor cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002616 biolink:NamedThing regional part of brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017741 biolink:NamedThing disorder of protein O-glycosylation A disease that has its basis in the disruption of protein O-linked glycosylation. tmpte7i6ely_mondo_relaxed.owl disorder of protein O-linked glycosylation|protein O-linked glycosylation disease Orphanet:309447|UMLS:CN227188|ICD10:E77.8 owl:Class HGNC:18451 biolink:NamedThing MCFD2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003456 biolink:NamedThing respiratory system lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020724 biolink:NamedThing cerebral cavernous malformation 1 tmpte7i6ely_mondo_relaxed.owl hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|CCM|cerebral capillary malformations|cerebral cavernous malformations 1|cavernous malformations of CNS and retina|cavernous angiomatous malformations|cerebral cavernous malformation 1|familial cerebral cavernous malformation 1|cavernous angioma, familial|cerebral cavernous malformations Orphanet:221061|OMIM:116860|DOID:0080491 owl:Class MONDO:0031037 biolink:NamedThing famililal cerebral cavernous malformations A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. tmpte7i6ely_mondo_relaxed.owl hereditary brain cavernous angioma|familial cerebral cavernous malformation|hereditary brain cavernous hemangioma|cavernous angioma, familial|familial brain cavernous angioma|hereditary cerebral cavernous malformation|cerebral cavernous malformations|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|hereditary cerebral cavernoma|CCM|familial brain cavernous hemangioma|cerebral capillary malformations|cavernous malformations of CNS and retina|cavernous angiomatous malformations|famililal cerebral cavernous malformations|familial cerebral cavernoma ICD10:Q28.3|Orphanet:221061|SCTID:717003001|OMIM:603285|UMLS:C2931263|OMIMPS:116860|OMIM:116860|OMIM:603284 owl:Class MONDO:0009928 biolink:NamedThing pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl pulmonary alveolar microlithiasis MedDRA:10037315|DOID:12117|ICD10:J84.0|SCTID:87153008|ICD9:516.2|ICD10:J84.02|GARD:0011894|OMIM:265100|MESH:C562405|Orphanet:60025|UMLS:C0155912 https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis owl:Class UBERON:0004535 biolink:NamedThing cardiovascular system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005335 biolink:NamedThing colorectal neoplasm A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpte7i6ely_mondo_relaxed.owl tumor of large bowel|neoplasm of the large bowel|colorectal tumor|neoplasm of colorectum|colorectum neoplasm|large intestinal neoplasm|tumor of colorectum|tumor of the large bowel|large intestine tumor|colorectum tumor|large intestine neoplasm|colorectal neoplasm|neoplasm of large bowel|colorectum neoplasm (disease)|large bowel neoplasm|large bowel tumor NCIT:C2956|MESH:D015179|EFO:0004142|OMIM:114500 MONDO:0021236 owl:Class MONDO:0014609 biolink:NamedThing cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia|CHOPS|CHOPS syndrome UMLS:C4085597|GARD:0012845|OMIM:616368|SCTID:764455002|ICD10:Q87.8|Orphanet:444077|EFO:0009031 owl:Class GO:0009251 biolink:NamedThing glucan catabolic process The chemical reactions and pathways resulting in the breakdown of glucans, polysaccharides consisting only of glucose residues. tmpte7i6ely_mondo_relaxed.owl glucan catabolism|glucan breakdown|glucan degradation owl:Class GO:0036374 biolink:NamedThing glutathione hydrolase activity Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate. tmpte7i6ely_mondo_relaxed.owl glutathionase activity|gamma-glutamyltranspeptidase activity owl:Class GO:0070003 biolink:NamedThing threonine-type peptidase activity Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005029 biolink:NamedThing essential thrombocythemia A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) tmpte7i6ely_mondo_relaxed.owl idiopathic thrombocythemia|essential thrombocytemia|primary thrombocytosis|primary thrombocythemia|ET|hemorrhagic thrombocythemia|essential thrombocythaemia|essential thrombocythemia|essential thrombocytosis ONCOTREE:ET|SCTID:109994006|OMIM:187950|Orphanet:3318|UMLS:C0040028|GARD:0006594|ICDO:9962/3|MESH:D013920|OMIM:300331|MedDRA:10015493|Orphanet:71493|DOID:2224|OMIM:601977|NCIT:C3407|ICD9:238.71|ICD10:D47.3|EFO:0000479|OMIM:614521 https://github.com/monarch-initiative/mondo/issues/230|https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia owl:Class MONDO:0002249 biolink:NamedThing thrombocytosis disease A disease characterized by higher than normal platelet counts in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl Thrombocythaemia|Platelet count increased|elevated Platelet count|thrombocytosis SCTID:6631009|NCIT:C35530|UMLS:C0836924|MESH:D013922|DOID:2228|ICD9:289.9 owl:Class UBERON:0011215 biolink:NamedThing central nervous system cell part cluster tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021063 biolink:NamedThing malignant colon neoplasm A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl colon tumor, malignant|malignant tumor of colon|colon neoplasm, malignant|malignant neoplasm of colon|malignant colon tumor|malignant colon neoplasm|malignant tumor of the colon|malignant colonic neoplasm|malignant neoplasm of the colon|colon cancer|cancer of colon|malignant colonic tumor SCTID:363406005|ICD9:153.9|UMLS:C0007102|ICD10:C18.9|ICD9:153.8|ICD10:C18|NCIT:C9242|DOID:219|ICD9:153 owl:Class GO:1902571 biolink:NamedThing regulation of serine-type peptidase activity Any process that modulates the frequency, rate or extent of serine-type peptidase activity. tmpte7i6ely_mondo_relaxed.owl regulation of serine protease activity owl:Class MONDO:0009231 biolink:NamedThing acromesomelic dysplasia 2B tmpte7i6ely_mondo_relaxed.owl fibular hypoplasia and complex brachydactyly|Du Pan syndrome|fibular aplasia-complex brachydactyly syndrome ICD10:Q73.8|OMIM:228900|DOID:0050790|SCTID:715474004|UMLS:C1856738|Orphanet:2639|KEGG:H00467|OMIM:609441|GARD:0009879|MESH:C537931 https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly owl:Class MONDO:0006855 biolink:NamedThing mesenteric vascular occlusion Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) tmpte7i6ely_mondo_relaxed.owl MedDRA:10074583|MESH:D008641|DOID:13252|UMLS:C0025472|EFO:1001043 owl:Class MONDO:0005294 biolink:NamedThing peripheral vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. tmpte7i6ely_mondo_relaxed.owl disease, peripheral vascular|peripheral vascular disorder|arterial occlusive disease|vascular disease, peripheral ICD9:443.81|DOID:341|NCIT:C35136|MESH:D016491|EFO:0003875 owl:Class MONDO:0011959 biolink:NamedThing sweet syndrome Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. tmpte7i6ely_mondo_relaxed.owl Gomm-button disease|acute febrile neutrophilic dermatosis|Gomm button disease|neutrophilic dermatosis, acute febrile|sweet syndrome|Afnd OMIM:608068|GARD:0000521|MedDRA:10000748|NCIT:C85177|ICD10:L98.2|Orphanet:3243|ICD9:702.8|UMLS:C0085077|MESH:D016463|SCTID:84625002 owl:Class HGNC:2515 biolink:NamedThing CTNND1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019453 biolink:NamedThing refractory cytopenia with multilineage dysplasia Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. tmpte7i6ely_mondo_relaxed.owl MDS-MLD|refractory cytopenia with multilineage dysplasia|RCMD|myelodysplastic syndrome with multilineage dysplasia SCTID:415285009|Orphanet:86836|UMLS:C0796466|MedDRA:10067959|NCIT:C8574|ICD10:D46.7|ICDO:9985/3|ICD10:D46.A|ICD9:238.72 owl:Class MONDO:0004111 biolink:NamedThing refractory hematologic cancer A hematologic malignancy that is resistant to treatment. tmpte7i6ely_mondo_relaxed.owl refractory hematologic cancer|refractory hematologic malignancy UMLS:C1335724|DOID:712|NCIT:C27357 owl:Class FOODON:03411021 biolink:NamedThing fish or lower water animal An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00003004 biolink:NamedThing animal A multicellular eukaryotic heterotrophic organism within the kingdom Animalia. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904659 biolink:NamedThing glucose transmembrane transport The process in which glucose is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl glucose transport owl:Class UBERON:0003457 biolink:NamedThing head bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060627 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 15 tmpte7i6ely_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 15|GPIBD15|developmental delay, epilepsy, cerebellar atrophy, and osteopenia OMIM:617810|Orphanet:529665|UMLS:C4540520 owl:Class HGNC:30587 biolink:NamedThing SNIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005304 biolink:NamedThing biliary tract neoplasm A neoplasm that involves the biliary tract. tmpte7i6ely_mondo_relaxed.owl biliary tract neoplasm|biliary tree tumor|biliary tract neoplasm (disease)|neoplasm of biliary tree|neoplasm of extrahepatic bile ducts|biliary tree neoplasm (disease)|biliary tree neoplasm|tumor of biliary tree biliary tract neoplasm (disease) ONCOTREE:BILIARYTRACT|UMLS:C0345913|SCTID:126855001|DOID:0050625|SCTID:126853008|EFO:0003891|NCIT:C4441|HP:0100574 https://github.com/monarch-initiative/mondo/issues/3673 owl:Class MONDO:0043905 biolink:NamedThing pneumonitis An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. tmpte7i6ely_mondo_relaxed.owl inflammation of lung parenchyma|pneumonitis|lung parenchyma inflammation SCTID:205237003|NCIT:C113159 Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious owl:Class UBERON:0003553 biolink:NamedThing diencephalon pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003290 biolink:NamedThing meninx of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000820 biolink:NamedThing regulation of glutamine family amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpte7i6ely_mondo_relaxed.owl regulation of glutamine family amino acid metabolism owl:Class MONDO:0016715 biolink:NamedThing ependymoblastoma Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. tmpte7i6ely_mondo_relaxed.owl embryonal tumor with Multilayered Rosettes, C19MC-altered|ependymoblastoma|ETMR, C19MC-altered|neuroectodermal tumors primitive|embryonal tumor with abundant neuropil and true rosettes|ETANTR|embryonal tumor with Multilayered Rosettes|embryonal tumor with Multilayered Rosettes with C19MC amplification|ETMR|embryonal tumor with abundant neuropil and true Rosettes Orphanet:251880|ONCOTREE:ETANTR|SCTID:715901002|DOID:0080903|DOID:4794|MedDRA:10014966|UMLS:C0700367|ICD10:C71.9|GARD:0006352|NCIT:C4915 owl:Class MONDO:0016713 biolink:NamedThing central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone. tmpte7i6ely_mondo_relaxed.owl central nervous system PNET|CNS PNET|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor|central nervous system primitive neuroectodermal tumor Orphanet:251870|NCIT:C129537|MedDRA:10057846 Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma owl:Class MONDO:0021138 biolink:NamedThing bone marrow cancer Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003 tmpte7i6ely_mondo_relaxed.owl malignant bone marrow tumor|bone marrow cancer|malignant neoplasm of bone marrow|malignant bone marrow neoplasm|cancer of bone marrow UMLS:C2703042|NCIT:C35501 owl:Class UBERON:0001278 biolink:NamedThing epithelium of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001277 biolink:NamedThing intestinal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002578 biolink:NamedThing negative regulation of antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. tmpte7i6ely_mondo_relaxed.owl down-regulation of antigen processing and presentation|down regulation of antigen processing and presentation|inhibition of antigen processing and presentation|downregulation of antigen processing and presentation owl:Class CHEBI:33432 biolink:NamedThing monoatomic chlorine tmpte7i6ely_mondo_relaxed.owl atomic chlorine owl:Class CHEBI:33431 biolink:NamedThing elemental chlorine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010187 biolink:NamedThing female urethral gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001338 biolink:NamedThing urethral gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006545 biolink:NamedThing erythema multiforme Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). tmpte7i6ely_mondo_relaxed.owl erythema polymorphe, erythema multiforme type|Herpes iris, erythema multiforme type|erythema multiforme bullosum|febrile mucocutaneous syndrome|Dermatostomatitis, erythema multiforme type|EM MESH:D004892|GARD:0006372|ICD9:695.1|DOID:0050185|SCTID:36715001|NCIT:C3024|ICD9:695.10|EFO:1000694|UMLS:C0014742|ICD10:L51 https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme owl:Class UBERON:0009576 biolink:NamedThing medulla oblongata sulcus limitans tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005478 biolink:NamedThing sulcus limitans of neural tube tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051180 biolink:NamedThing vitamin transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl vitamin or cofactor transport owl:Class GO:0006810 biolink:NamedThing transport The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. tmpte7i6ely_mondo_relaxed.owl solute:solute exchange|single-organism transport|small molecule transport owl:Class MONDO:0007730 biolink:NamedThing histiocytic dermatoarthritis tmpte7i6ely_mondo_relaxed.owl histiocytic dermatoarthritis UMLS:C1840551|OMIM:142730|MESH:C564183 owl:Class MONDO:0020451 biolink:NamedThing congenital stenosis of the inferior vena cava tmpte7i6ely_mondo_relaxed.owl congenital stenosis of the inferior caval vein|congenital stenosis of the IVC SCTID:62335009|Orphanet:99122|ICD9:747.49|ICD10:Q26.0 owl:Class MONDO:0019830 biolink:NamedThing congenital anomaly of the inferior vena cava tmpte7i6ely_mondo_relaxed.owl congenital anomaly of the inferior caval vein|congenital anomaly of the IVC SCTID:81577001|ICD9:747.49|Orphanet:95499|ICD10:Q26.9 owl:Class MONDO:0014603 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 40 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in CRYM|deafness, autosomal dominant type 40|deafness, autosomal dominant 40|DFNA40|autosomal dominant nonsyndromic deafness 40|autosomal dominant nonsyndromic deafness type 40|CRYM autosomal dominant nonsyndromic deafness|autosomal dominant deafness 40 UMLS:C4084708|OMIM:616357|DOID:0110566|ICD10:H90.3 owl:Class MONDO:0019666 biolink:NamedThing spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. tmpte7i6ely_mondo_relaxed.owl spondylodysplasia and premature pubarche|spondyloepimetaphyseal dysplasia, Pakistani type|spondyloepimetaphyseal dysplasia Pakistani type|brachyolmia type 4 with mild epiphyseal and metaphyseal changes|SEMD, Pakistani type|BCYM4 OMIM:612847|ICD10:Q77.7|SCTID:719172003|DOID:0050812|Orphanet:93282 owl:Class GO:0106015 biolink:NamedThing negative regulation of inflammatory response to wounding Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020159 biolink:NamedThing congenital entropion tmpte7i6ely_mondo_relaxed.owl ICD10:Q10.2|MedDRA:10014923|Orphanet:98568|SCTID:20392000 owl:Class CL:0002620 biolink:NamedThing skin fibroblast A fibroblast of skin. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0935|BTO:0001255 tmeehan 2011-03-14T12:31:49Z cell owl:Class MONDO:0100404 biolink:NamedThing acute myeloid leukemia, MLL gene rearrangement Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.) tmpte7i6ely_mondo_relaxed.owl AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement|AML, KMT2A Gene Rearrangement|AML, KMT2A Rearrangement|AML, Myeloid/Lymphoid Leukemia Gene Rearrangement|AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement|AML, MLL gene rearrangement|AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement|AML, Lysine Methyltransferase 2A Gene Rearrangement|AML, MLL Rearrangement|AML, Mixed Lineage Leukemia Gene Rearrangement NCIT:C122623|NCIT:C174129 owl:Class MONDO:0013956 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. tmpte7i6ely_mondo_relaxed.owl MSMD due to partial STAT1 deficiency|IMD31A|Stat1 deficiency, autosomal dominant|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|immunodeficiency 31A|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|MSMD due to partial signal transducer and activator of transcription 1 deficiency|immunodeficiency type 31A UMLS:C4013950|ICD10:D84.8|Orphanet:319595|OMIM:614892 owl:Class MONDO:0013427 biolink:NamedThing immunodeficiency 31B tmpte7i6ely_mondo_relaxed.owl Stat1 deficiency, autosomal recessive|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive|immunodeficiency type 31B|IMD31B|susceptibility to viral and mycobacterial infections|immunodeficiency 31B|STAT1 deficiency Orphanet:391311|UMLS:C3151088|ICD10:D84.8|OMIM:613796 owl:Class MONDO:0009353 biolink:NamedThing homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. tmpte7i6ely_mondo_relaxed.owl Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|MTHFR deficiency|Methylenetetrahydro-folate reductase deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|MTHFR deficiency, thermolabile type|5,10-alpha-methylenetetrahydro-folate reductase deficiency|5,10 alpha methylenetetrahydro-folate reductase deficiency|homocystinuria due to methylene tetrahydrofolate reductase deficiency|methylenetetrahydrofolate reductase deficiency|methylene tetrahydrofolate reductase deficiency|homocystinuria due to MTHFR deficiency|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency OMIM:236250|MESH:C537357|SCTID:41797007|GARD:0002734|ICD10:E72.1|Orphanet:395 owl:Class MONDO:0017313 biolink:NamedThing disorder of folate metabolism and transport tmpte7i6ely_mondo_relaxed.owl Orphanet:285657|UMLS:CN227114 owl:Class MONDO:0000961 biolink:NamedThing endobronchial lipoma A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. tmpte7i6ely_mondo_relaxed.owl endobronchial lipoma DOID:10183|UMLS:C0852937|NCIT:C5063 Editor note: TODO check with NCIT why this is classified as lung owl:Class MONDO:0005106 biolink:NamedThing lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. tmpte7i6ely_mondo_relaxed.owl lipomatous neoplasm|lipomatous tumor|multiple lipomatosis|lipomatosis, familial multiple|lipomatous neoplasm (morphologic abnormality)|lipoma|benign tumor of adipose tissue|lipoma, benign ICD9:214|DOID:3315|UMLS:C0023798|MESH:D008067|ICD10:D17|EFO:0000759|OMIM:151900|NCIT:C3192|SCTID:93163002|ICDO:8850/0|ICD9:214.9|ICD10:D17.9 owl:Class UBERON:0009640 biolink:NamedThing hypophyseal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003932 biolink:NamedThing cartilage element of chondrocranium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:58072 biolink:NamedThing carbon monoxide(1+) Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl CO(1+)|methylidyneoxonium|methylidyneoxidanium owl:Class CHEBI:25697 biolink:NamedThing organic cation Any organic ion with a net positive charge. tmpte7i6ely_mondo_relaxed.owl organic cations owl:Class CL:0000183 biolink:NamedThing contractile cell A cell whose primary function is to shorten. tmpte7i6ely_mondo_relaxed.owl cell owl:Class ECTO:4000028 biolink:NamedThing exposure to freezing air A exposure event involving the interaction of an exposure receptor to frozen of air. tmpte7i6ely_mondo_relaxed.owl exposure to frozen in air owl:Class ECTO:0000980 biolink:NamedThing exposure to temperature of air in surroundings A exposure event involving the interaction of an exposure receptor to temperature of air. tmpte7i6ely_mondo_relaxed.owl temperature of air exposure owl:Class GO:0009127 biolink:NamedThing purine nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleoside monophosphate anabolism|purine nucleoside monophosphate formation|purine nucleoside monophosphate synthesis|purine nucleoside monophosphate biosynthesis owl:Class GO:0009126 biolink:NamedThing purine nucleoside monophosphate metabolic process The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleoside monophosphate metabolism owl:Class OBO:CHR_9606-chr9q21 biolink:NamedThing 9q21 (Human) tmpte7i6ely_mondo_relaxed.owl 87800000 65000000 hg38 owl:Class GO:0014049 biolink:NamedThing positive regulation of glutamate secretion Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. tmpte7i6ely_mondo_relaxed.owl activation of glutamate secretion|up-regulation of glutamate secretion|up regulation of glutamate secretion|upregulation of glutamate secretion|stimulation of glutamate secretion owl:Class HGNC:2536 biolink:NamedThing CTSK tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035827 biolink:NamedThing right adrenal gland cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001235 biolink:NamedThing adrenal cortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022337 biolink:NamedThing AIDS dysmorphic syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0005765 https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome owl:Class MONDO:0018027 biolink:NamedThing duplication/inversion 15q11 Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl chromosome 15q tetrasomy|inverted duplication 15|idic(15)|non-distal tetrasomy 15q|duplication/inversion 15q11|Duplication/inversion type 15q11|non-telomeric tetrasomy 15q|Inv dup(15)|Isodicentric chromosome 15 syndrome|Invdup(15)|tetrasomy 15q|Isodicentric 15 chromosome SCTID:723332005|GARD:0005153|ICD10:Q99.8|MESH:C580205|Orphanet:3306 https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome owl:Class MONDO:0016998 biolink:NamedThing complex chromosomal rearrangement tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:263708 Reason: grouping class. Term to consider: none owl:Class GO:1904226 biolink:NamedThing regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015249 biolink:NamedThing digit skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024282 biolink:NamedThing mucinous ovarian cancer An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. tmpte7i6ely_mondo_relaxed.owl malignant ovarian mucinous tumor|malignant ovarian mucinous neoplasm|ovarian mucinous neoplasm, malignant ONCOTREE:MOV|NCIT:C40033|UMLS:C1518233 owl:Class MONDO:0003756 biolink:NamedThing ovarian mucinous neoplasm A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl mucinous tumor of ovary|ovarian mucinous neoplasm|malignant ovarian mucinous neoplasm|mucinous neoplasm of the ovary|mucinous neoplasm of ovary|mucinous tumor of the ovary|ovarian mucinous tumor DOID:6067|UMLS:C1335168|UMLS:C1518233|NCIT:C5242|NCIT:C40033 owl:Class CL:0002240 biolink:NamedThing marrow fibroblast A fibroblast in the bone marrow. tmpte7i6ely_mondo_relaxed.owl FMA:84377 tmeehan 2010-09-07T02:25:18Z cell owl:Class GO:0005978 biolink:NamedThing glycogen biosynthetic process The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. tmpte7i6ely_mondo_relaxed.owl glycogen formation|glycogen anabolism|glycogen biosynthesis|glycogen synthesis owl:Class GO:0009250 biolink:NamedThing glucan biosynthetic process The chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues. tmpte7i6ely_mondo_relaxed.owl glucan synthesis|glucan anabolism|glucan biosynthesis|glucan formation owl:Class MONDO:0017518 biolink:NamedThing brachydactyly of toes, bilateral tmpte7i6ely_mondo_relaxed.owl short toes, bilateral ICD10:Q72.8|Orphanet:295134 owl:Class MONDO:0017452 biolink:NamedThing non-syndromic brachydactyly of toes A non-syndromic brachydactyly that involves the pes. tmpte7i6ely_mondo_relaxed.owl non-syndromic brachydactyly of pes|short toes|pes non-syndromic brachydactyly ICD10:Q72.8|Orphanet:294998|ICD9:755.66|SCTID:205346006 owl:Class MONDO:0044906 biolink:NamedThing bladder urothelial papilloma A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. tmpte7i6ely_mondo_relaxed.owl bladder urothelial papilloma|bladder transitional cell papilloma|urinary bladder urothelial papilloma|urinary bladder transitional cell papilloma NCIT:C39858 owl:Class MONDO:0003822 biolink:NamedThing non-invasive bladder papillary urothelial neoplasm A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. tmpte7i6ely_mondo_relaxed.owl non-invasive bladder papillary urothelial neoplasm|bladder PUNLMP|bladder papillary neoplasm of low malignant potential|papillary urothelial neoplasm of low malignant potential UMLS:C1518358|DOID:6239|NCIT:C39831 owl:Class NCBITaxon:60516 biolink:NamedThing Dibothriocephalus latus tmpte7i6ely_mondo_relaxed.owl broad fish tapeworm|Diphyllobothrium latum GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2267273 biolink:NamedThing Dibothriocephalus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016271 biolink:NamedThing adenoid cystic carcinoma of the corpus uteri A adenoid cystic carcinoma that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl endometrial adenoid cystic carcinoma|body of uterus adenoid cystic carcinoma ICD10:C54.3|ICD10:C54.2|ICD10:C54.0|Orphanet:213741|ICD10:C54.1|ICD10:C54.8 owl:Class MONDO:0005479 biolink:NamedThing atrial tachycardia A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC) tmpte7i6ely_mondo_relaxed.owl ICD9:427.89|EFO:0005308|SCTID:276796006|NCIT:C35481 owl:Class NCBITaxon:526525 biolink:NamedThing Erysipelotrichales tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:526524 biolink:NamedThing Erysipelotrichia tmpte7i6ely_mondo_relaxed.owl PMID:23606477|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009444 biolink:NamedThing ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl ichthyosis alopecia eclabion ectropion intellectual disability|Jagell Holmgren Hofer syndrome|ichthyosis alopecia eclabion ectropion mental retardation|ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|Jagell-Holmgren-Hofer syndrome|ichthyosis with alopecia, eclabium, ectropion, and mental retardation UMLS:C1855788|OMIM:242510|MESH:C537364|GARD:0000292|Orphanet:2269 owl:Class MONDO:0020298 biolink:NamedThing Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 tmpte7i6ely_mondo_relaxed.owl UPD(15)mat|Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15 ICD10:Q87.1|Orphanet:98754|UMLS:CN207093 owl:Class MONDO:0700022 biolink:NamedThing chromosome 15 disorder Chromosomal disorder in which chromosome 15 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0020831 biolink:NamedThing congenital vertebral-cardiac-renal anomalies syndrome tmpte7i6ely_mondo_relaxed.owl vertebral, cardiac, renal, and limb defects syndrome|VCRL OMIMPS:617660|Orphanet:521438 owl:Class CL:0002106 biolink:NamedThing IgD-positive CD38-positive IgG memory B cell An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002105 biolink:NamedThing CD38-positive IgG memory B cell A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive. tmpte7i6ely_mondo_relaxed.owl CD38-positive IgG memory B-lymphocyte|CD38+ IgG memory B lymphocyte|CD38-positive IgG memory B-cell|CD38+ IgG memory B-cell|CD38-positive IgG memory B lymphocyte|CD38+ IgG memory B-lymphocyte|CD38+ IgG memory B cell cell owl:Class MONDO:0003169 biolink:NamedThing diencephalic astrocytomas A astrocytoma that involves the diencephalon. tmpte7i6ely_mondo_relaxed.owl diencephalon astrocytoma (excluding glioblastoma)|astrocytoma (excluding glioblastoma) of diencephalon|diencephalon astrocytoma|astrocytoma of the diencephalon|astrocytoma of diencephalon|diencephalic astrocytoma UMLS:C1333284|NCIT:C5128|DOID:4855 owl:Class MONDO:0005499 biolink:NamedThing brain glioma A malignant glioma that involves the brain. tmpte7i6ely_mondo_relaxed.owl brain malignant glioma|malignant glioma of brain OMIM:613029|EFO:0005543|DOID:0060108|OMIM:613028|NCIT:C4822|SCTID:254937005|UMLS:C0349661 owl:Class MONDO:0030924 biolink:NamedThing proteasome-associated autoinflammatory syndrome 5 tmpte7i6ely_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 5|PRAAS5 OMIM:619175 owl:Class MONDO:0009726 biolink:NamedThing proteosome-associated autoinflammatory syndrome tmpte7i6ely_mondo_relaxed.owl PRAAS|Nakajo Nishimura syndrome|nodular erythema digital changes|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|JMP syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature|autoinflammation, lipodystrophy, and dermatosis syndrome|autoinflammation-lipodystrophy-dermatosis syndrome|amyotrophy fat tissue anomaly|secondary hypertrophic osteoperiostosis with pernio|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|ALDD syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|NNS|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|proteasome-associated autoinflammatory syndrome|Nakajo-Nishimura syndrome|amyotrophy-fat tissue anomaly syndrome|proteasome disability syndrome|chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|ALDD|Nakajo syndrome|CANDLE syndrome GARD:0003917|ICD9:709.8|UMLS:CN204109|MESH:C538334|OMIM:256040|GARD:0010811|GARD:0003916|GARD:0010988|Orphanet:324999|DOID:0050553|Orphanet:2615|UMLS:CN202195|SCTID:702449004|ICD10:L98.8|Orphanet:324977|Orphanet:325004|OMIMPS:256040 https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome|https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature owl:Class MONDO:0002785 biolink:NamedThing skull base neoplasm A benign or malignant neoplasm that affects the skull base. tmpte7i6ely_mondo_relaxed.owl tumor of basicranium|basicranium tumor|skull base neoplasm|skull base tumor|neoplasm of skull base|tumor of skull base|basicranium neoplasm (disease)|tumor of the skull base|neoplasm of basicranium|skull base cancer|tumors of skull base|basicranium neoplasm|neoplasm of the skull base UMLS:C0376527|DOID:3842|MESH:D019292|NCIT:C4676 owl:Class MONDO:0011558 biolink:NamedThing Usher syndrome type 2C A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl Usher syndrome, type IIb, formerly|Usher syndrome type IIC|USHER syndrome, type IIC|USH2C|Usher syndrome, type IIb|Usher syndrome, type 2C|Usher syndrome, type IIc, Gpr98/Pdzd7, digenic OMIM:605472|GARD:0008497|DOID:0110839|Orphanet:231178|MESH:C536492|NCIT:C153174|Orphanet:886|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c owl:Class MONDO:0016484 biolink:NamedThing Usher syndrome type 2 A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. tmpte7i6ely_mondo_relaxed.owl Usher syndrome type 2|USH2 SCTID:232058008|ICD10:H35.5|OMIM:605472|DOID:0110827|OMIM:276901|NCIT:C126328|UMLS:C0339534|Orphanet:231178|OMIM:611383 owl:Class HGNC:4035 biolink:NamedThing ACKR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008896 biolink:NamedThing campomelia, Cumming type Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. tmpte7i6ely_mondo_relaxed.owl campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys|campomelia Cumming type|cervical lymphocele with bowed long bones|Cumming syndrome|campomelia, Cumming type GARD:0001061|UMLS:C1859371|MESH:C537966|OMIM:211890|ICD10:Q87.8|SCTID:720599002|Orphanet:1318 https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type owl:Class GO:0030811 biolink:NamedThing regulation of nucleotide catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpte7i6ely_mondo_relaxed.owl regulation of nucleotide degradation|regulation of nucleotide catabolism|regulation of nucleotide breakdown owl:Class GO:0031329 biolink:NamedThing regulation of cellular catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl regulation of cellular degradation|regulation of cellular breakdown|regulation of cellular catabolism owl:Class UBERON:0007589 biolink:NamedThing ciliated columnar oviduct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004804 biolink:NamedThing oviduct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000381 biolink:NamedThing negative regulation of mesoderm development Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051093 biolink:NamedThing negative regulation of developmental process Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpte7i6ely_mondo_relaxed.owl inhibition of developmental process|down regulation of developmental process|down-regulation of developmental process|downregulation of developmental process owl:Class MONDO:0012992 biolink:NamedThing pancreatic insufficiency-anemia-hyperostosis syndrome This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. tmpte7i6ely_mondo_relaxed.owl pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome|exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis OMIM:612714|SCTID:722207000|UMLS:C4302747|UMLS:C2675184|Orphanet:199337|MESH:C567195 owl:Class MONDO:0009068 biolink:NamedThing cytochrome-c oxidase deficiency disease A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. tmpte7i6ely_mondo_relaxed.owl cytochrome-C oxidase deficiency|mitochondrial complex IV deficiency|Complex 4 mitochondrial respiratory chain deficiency|isolated cytochrome C oxidase deficiency|COX deficiency|isolated COX deficiency|cytochrome C oxidase deficiency|mitochondrial Complex 4 deficiency|cytochrome-c oxidase deficiency disease|isolated mitochondrial respiratory chain complex IV deficiency|Cox deficiency|Complex IV deficiency|deficiency of mitochondrial respiratory chain complex4 SCTID:67434000|Orphanet:254905|DOID:3762|UMLS:C0268237|ICD10:E88.8|MESH:D030401|OMIM:220110|GARD:0000048|NCIT:C98910 owl:Class HP:0001933 biolink:NamedThing Subcutaneous hemorrhage This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). tmpte7i6ely_mondo_relaxed.owl Subcutaneous haemorrhage|Bleeding below the skin UMLS:C0854107 Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. peter 2008-02-28T07:14:00Z human_phenotype owl:Class HP:0001892 biolink:NamedThing Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. tmpte7i6ely_mondo_relaxed.owl Hemorrhagic diathesis|Bleeding tendency|Bleeding diathesis SNOMEDCT_US:64779008|UMLS:C1458140|SNOMEDCT_US:248250000 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. HP:0004830|HP:0008183|HP:0004865|HP:0004862|HP:0004849|HP:0004834 human_phenotype owl:Class MONDO:0005437 biolink:NamedThing testicular dysgenesis syndrome A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. tmpte7i6ely_mondo_relaxed.owl UMLS:C2919755|EFO:0004893|SCTID:445338005 owl:Class MONDO:0001967 biolink:NamedThing gonadal dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. tmpte7i6ely_mondo_relaxed.owl gonadal dysgenesis syndrome ICD9:758.6|DOID:14447|NCIT:C61420|MESH:D006059|SCTID:38804009|SCTID:205681004|GARD:0002538 https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis owl:Class MONDO:0008696 biolink:NamedThing acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. tmpte7i6ely_mondo_relaxed.owl acanthosis nigricans muscle cramps acral enlargement|acanthosis nigricans with muscle cramps and acral enlargement|familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps OMIM:200170|UMLS:C1860215|GARD:0000453|MESH:C536000|Orphanet:90301 owl:Class MONDO:0016817 biolink:NamedThing Meier-Gorlin syndrome Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). tmpte7i6ely_mondo_relaxed.owl ear-patella-short stature syndrome|Meier-Gorlin syndrome OMIM:224690|OMIM:617063|OMIMPS:224690|OMIM:613803|GARD:0002033|Orphanet:2554|OMIM:613800|DOID:0060306|MedDRA:10070612|ICD10:Q87.1|OMIM:616835|OMIM:613804|OMIM:613805|MESH:C538012|SCTID:703508009 owl:Class MONDO:0019467 biolink:NamedThing CD4+/CD56+ hematodermic neoplasm An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement. tmpte7i6ely_mondo_relaxed.owl agranular CD4+ CD56+ hematodermic neoplasm/tumor|BPDCN|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|agranular CD4+ natural Killer cell leukemia|lymphoblastoid variant of NK-cell lymphoma|CD4+/CD56+ hematodermic neoplasm|monomorphic NK-cell lymphoma|blastic plasmacytoid dendritic cell neoplasm|blastic plasmacytoid Dendritic cell neoplasm|early plasmacytoid Dendritic cell leukemia/lymphoma|blastic natural Killer leukemia/lymphoma|blastic NK-cell lymphoma|blastic plasmacytoid dendritic cell ICDO:9727/3|ONCOTREE:BPDCN|SCTID:445105005|ICD10:C86.4|Orphanet:86870|GARD:0010556|UMLS:CN206246|UMLS:C1301363|NCIT:C7203|ICD9:202.80 https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell owl:Class MONDO:0015760 biolink:NamedThing T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 tmpte7i6ely_mondo_relaxed.owl T cell lymphoma|T-cell and NK-cell non-Hodgkin's lymphoma|non-Hodgkin's T-cell lymphoma|T-cell non-Hodgkin's lymphoma|T-cell lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell non-Hodgkin lymphoma|T-cell NHL UMLS:C0079772|Orphanet:171918|MESH:D016399|ICD9:202.70|NCIT:C3466|SCTID:109978004|MedDRA:10042971 owl:Class HP:0002813 biolink:NamedThing Abnormality of limb bone morphology Any abnormality of bones of the arms or legs. tmpte7i6ely_mondo_relaxed.owl Limb abnormality|Abnormal shape of limb bone|Arm and/or leg bone differences UMLS:C4082761 human_phenotype owl:Class HP:0040068 biolink:NamedThing Abnormality of limb bone tmpte7i6ely_mondo_relaxed.owl Abnormality of limb bone UMLS:C4022456 HPO:skoehler human_phenotype owl:Class MONDO:0016041 biolink:NamedThing congenital microgastria Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies. tmpte7i6ely_mondo_relaxed.owl ICD9:750.7|ICD10:Q40.2|Orphanet:199293|SCTID:83714006 owl:Class CL:0002266 biolink:NamedThing type D cell of small intestine A type D cell of the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestine D-cell|small intestine delta cell|delta cell of small intestine FMA:268736 tmeehan 2010-09-10T01:34:22Z cell owl:Class CL:0002254 biolink:NamedThing epithelial cell of small intestine An epithelial cell of the small intestine. tmpte7i6ely_mondo_relaxed.owl FMA:256159 tmeehan 2010-09-08T09:41:46Z CL:1000293 cell owl:Class MONDO:0010028 biolink:NamedThing sialuria Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. tmpte7i6ely_mondo_relaxed.owl sialuria, French type|sialuria GARD:0004865|ICD10:E77.8|DOID:3659|OMIM:269921|MedDRA:10067529|NCIT:C85067|SCTID:238051008|ICD9:796.4|OMIM:604369|Orphanet:3166 owl:Class UBERON:0004331 biolink:NamedThing proximal phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014505 biolink:NamedThing proximal phalanx of digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024459 biolink:NamedThing Aeromonas hydrophila intestinal disease tmpte7i6ely_mondo_relaxed.owl intestinal infection due to Aeromonas hydrophila|intestinal infection caused by Aeromonas hydrophila ICD9:008.47|SCTID:446988001|UMLS:C2960005 owl:Class MONDO:0005117 biolink:NamedThing Aeromonas hydrophila infectious disease Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. tmpte7i6ely_mondo_relaxed.owl Aeromonas hydrophila disease or disorder|Aeromonas hydrophila caused disease or disorder EFO:0000776 owl:Class MONDO:0013959 biolink:NamedThing Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. tmpte7i6ely_mondo_relaxed.owl PRX Charcot-Marie-Tooth disease type 4|Prx Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|CMT4F|Charcot-Marie-Tooth disease, demyelinating, type 4F OMIM:614895|Orphanet:99952|ICD10:G60.0|SCTID:715801001|UMLS:C3540453|GARD:0012441|DOID:0110193 https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f owl:Class MONDO:0018995 biolink:NamedThing Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. tmpte7i6ely_mondo_relaxed.owl AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth|CMT4 DOID:0050541|ICD10:G60.0|GARD:0012440|UMLS:CN043578|Orphanet:64749|SCTID:715795005 owl:Class MONDO:0015206 biolink:NamedThing short stature-heart defect-craniofacial anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Rommen-Mueller-Sybert syndrome|Rommen Mueller Sybert syndrome|short stature heart defect and craniofacial anomalies ICD10:Q87.1|GARD:0004739|Orphanet:1088|MESH:C535871|UMLS:C2931050 owl:Class MONDO:0015160 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl MCA/variable MR|multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome Orphanet:102284 owl:Class HGNC:3811 biolink:NamedThing FOXG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030044 biolink:NamedThing pseudo-TORCH syndrome 3 tmpte7i6ely_mondo_relaxed.owl PSEUDO-TORCH SYNDROME 3|pseudo-torch syndrome 3|PTORCH3 OMIM:618886 owl:Class MONDO:0009626 biolink:NamedThing pseudo-TORCH syndrome Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. tmpte7i6ely_mondo_relaxed.owl BLC-PMG|band-like calcification with simplified gyration and polymicrogyria|pseudo-TORCH syndrome|BLCPMG|microcephaly-intracranial calcification-intellectual disability syndrome|Baraitser-Brett-Piesowicz syndrome|congenital intrauterine infection-like syndrome|microcephaly intracranial calcification|Baraitser-Reardon syndrome|microcephaly - intracranial calcification - intellectual disability|bilateral band-like calcification with polymicrogyria|Baraitser Brett Piesowicz syndrome SCTID:722390006|DOID:0050656|Orphanet:1229|ICD10:Q87.8|GARD:0000815|OMIMPS:251290|GARD:0012426|UMLS:C3489725 owl:Class UBERON:0005695 biolink:NamedThing manual digit 5 mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011071 biolink:NamedThing hereditary thrombocytopenia and hematologic cancer predisposition syndrome The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. tmpte7i6ely_mondo_relaxed.owl hereditary thrombocytopenia and hematologic cancer predisposition syndrome MESH:C563324|Orphanet:71290|UMLS:C1832388|GARD:0010352|SCTID:725034002|OMIM:616216|ICD10:D69.4 owl:Class MONDO:0020118 biolink:NamedThing dense granule disease tmpte7i6ely_mondo_relaxed.owl Delta granule disease Orphanet:98456|UMLS:CN207010|ICD10:D69.1 owl:Class GO:0050819 biolink:NamedThing negative regulation of coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. tmpte7i6ely_mondo_relaxed.owl inhibition of coagulation|downregulation of coagulation|negative regulation of clotting|anticoagulant activity|down-regulation of coagulation|down regulation of coagulation owl:Class GO:0042613 biolink:NamedThing MHC class II protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042611 biolink:NamedThing MHC protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031409 biolink:NamedThing Abnormal lymphocyte physiology Any anomaly of lymphocyte function. tmpte7i6ely_mondo_relaxed.owl 2017-09-04 12:08:45+00:00 peter human_phenotype owl:Class HP:0011017 biolink:NamedThing Abnormal cellular physiology An abnormality in a cellular process. tmpte7i6ely_mondo_relaxed.owl Abnormality of cell physiology UMLS:C4023595 peter 2011-02-22T07:05:50Z HP:0025462 human_phenotype owl:Class MONDO:0005595 biolink:NamedThing laryngeal squamous cell carcinoma A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx. tmpte7i6ely_mondo_relaxed.owl LXSC|epidermoid carcinoma of larynx|laryngeal squamous cell carcinoma|larynx epidermoid carcinoma|squamous cell carcinoma of the larynx|laryngeal epidermoid carcinoma|squamous cell carcinoma of larynx|larynx squamous cell carcinoma|epidermoid carcinoma of the larynx|laryngeal throat squamous cell cancer Orphanet:494550|UMLS:C0280324|OMIM:275355|SCTID:405822008|EFO:0006352|ONCOTREE:LXSC|DOID:2876|NCIT:C4044 owl:Class UBERON:0004666 biolink:NamedThing interventricular septum membranous part tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000158 biolink:NamedThing membranous layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016538 biolink:NamedThing temporal cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002533 biolink:NamedThing post-anal tail bud tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8p2 biolink:NamedThing 8p2 (Human) tmpte7i6ely_mondo_relaxed.owl 29000000 0 hg38 owl:Class GO:1903827 biolink:NamedThing regulation of cellular protein localization Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpte7i6ely_mondo_relaxed.owl regulation of cellular protein localisation|regulation of channel localizer activity owl:Class GO:0032880 biolink:NamedThing regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl regulation of protein localisation owl:Class MONDO:0002564 biolink:NamedThing jejunal neoplasm A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma. tmpte7i6ely_mondo_relaxed.owl jejunum neoplasm (disease)|neoplasm of the jejunum|jejunal tumor|jejunum neoplasm|neoplasm of jejunum|jejunum tumor|tumor of the jejunum|tumor of jejunum NCIT:C8401|MESH:D007580|UMLS:C0022374|DOID:3218|SCTID:126834003 owl:Class CL:0000000 biolink:NamedThing cell A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. tmpte7i6ely_mondo_relaxed.owl FMA:68646|KUPO:0000002|WBbt:0004017|XAO:0003012|CALOHA:TS-2035|GO:0005623|VHOG:0001533 The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). cell owl:Class CHEBI:33906 biolink:NamedThing cobalt corrinoid tmpte7i6ely_mondo_relaxed.owl cobalt corrinoids|cobalt-corrinoids owl:Class CHEBI:33909 biolink:NamedThing metallotetrapyrrole tmpte7i6ely_mondo_relaxed.owl metallotetrapyrroles|metal-tetrapyrrole|metal-tetrapyrrole complex owl:Class MONDO:0017577 biolink:NamedThing spontaneous periodic hypothermia Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions. tmpte7i6ely_mondo_relaxed.owl recurrent spontaneous hypothermia with hypoplasia of the corpus callosum|Shapiro's syndrome|spontaneous periodic hypothermia syndrome|spontaneous recurrent hypothermia syndrome|episodic spontaneous hypothermia|Shapiro syndrome GARD:0004815|ICD10:G90.8|Orphanet:29822|MESH:C537594|UMLS:C2931542 owl:Class CL:0000623 biolink:NamedThing natural killer cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. tmpte7i6ely_mondo_relaxed.owl null cell|NK cell|large granular lymphocyte FMA:83601|BTO:0004716|VHOG:0001697|BTO:0000914|FMA:63147|CALOHA:TS-0664 cell owl:Class CL:0001067 biolink:NamedThing group 1 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. tmpte7i6ely_mondo_relaxed.owl 2017-01-30 20:42:44+00:00 cell owl:Class HGNC:9490 biolink:NamedThing TMPRSS15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017687 biolink:NamedThing disorder of neutral amino acid transport An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. tmpte7i6ely_mondo_relaxed.owl rare inborn error of neutral amino acid transport|inborn neutral amino acid transport disorder|inborn error of neutral amino acid transport ICD10:E72.0|Orphanet:308451|UMLS:CN203583 owl:Class MONDO:0019216 biolink:NamedThing inborn disorder of amino acid absorption and transport tmpte7i6ely_mondo_relaxed.owl disorder of amino acid absorption and transport|disorder of amino acid transport ICD10:E72.0|Orphanet:79166|ICD9:270.0|SCTID:16784003|UMLS:C0268641 Editor note: consider changing to transport owl:Class MONDO:0017780 biolink:NamedThing 20p13 microdeletion syndrome 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. tmpte7i6ely_mondo_relaxed.owl Del(20)(p13)|20p subtelomeric deletion syndrome|monosomy 20p13 Orphanet:313781|UMLS:CN203720|ICD10:Q93.5 owl:Class MONDO:0013045 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to, type 3|MTBS3|mycobacterium tuberculosis, susceptibility to, 3 OMIM:612929 owl:Class HGNC:5212 biolink:NamedThing HSD17B3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100368 biolink:NamedThing RPE65-related recessive retinopathy A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene. tmpte7i6ely_mondo_relaxed.owl RPE65 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RPE65|RPE65 retinitis pigmentosa|Leber congenital amaurosis 2|amaurosis congenita of Leber II|retinitis pigmentosa caused by mutation in RPE65|retinitis pigmentosa 20|amaurosis congenita of Leber, type 2|RP20|Leber congenital amaurosis type 2|LCA2|recessive RPE65 retinopathy|amaurosis congenita of Leber 2 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class GO:0045725 biolink:NamedThing positive regulation of glycogen biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpte7i6ely_mondo_relaxed.owl upregulation of glycogen biosynthetic process|positive regulation of glycogen anabolism|activation of glycogen biosynthetic process|positive regulation of glycogen formation|positive regulation of glycogen biosynthesis|up-regulation of glycogen biosynthetic process|positive regulation of glycogen synthesis|up regulation of glycogen biosynthetic process|stimulation of glycogen biosynthetic process owl:Class GO:0070875 biolink:NamedThing positive regulation of glycogen metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpte7i6ely_mondo_relaxed.owl positive regulation of glycogen metabolism owl:Class GO:0045893 biolink:NamedThing positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. tmpte7i6ely_mondo_relaxed.owl stimulation of gene-specific transcription|positive regulation of gene-specific transcription|positive regulation of transcription, DNA-dependent|upregulation of transcription, DNA-dependent|activation of gene-specific transcription|upregulation of gene-specific transcription|transcription activator activity|up regulation of transcription, DNA-dependent|positive regulation of cellular transcription, DNA-dependent|up regulation of gene-specific transcription|up-regulation of transcription, DNA-dependent|up-regulation of gene-specific transcription|stimulation of transcription, DNA-dependent|activation of transcription, DNA-dependent owl:Class GO:1903508 biolink:NamedThing positive regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. tmpte7i6ely_mondo_relaxed.owl activation of nucleic acid-templated transcription|upregulation of nucleic acid-templated transcription|up regulation of nucleic acid-templated transcription|up-regulation of nucleic acid-templated transcription owl:Class HP:0010980 biolink:NamedThing Hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood. tmpte7i6ely_mondo_relaxed.owl UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001 peter 2011-02-07T10:56:30Z human_phenotype owl:Class HP:0010979 biolink:NamedThing Abnormality of lipoprotein cholesterol concentration An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormality of the level of lipoprotein cholesterol UMLS:C4023615 Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. peter 2011-02-07T09:47:29Z human_phenotype owl:Class CHEBI:33273 biolink:NamedThing polyatomic anion An anion consisting of more than one atom. tmpte7i6ely_mondo_relaxed.owl polyatomic anions owl:Class CHEBI:36358 biolink:NamedThing polyatomic ion An ion consisting of more than one atom. tmpte7i6ely_mondo_relaxed.owl polyatomic ions owl:Class MONDO:0021279 biolink:NamedThing mucoepidermoid carcinoma of submandibular gland A mucoepidermoid carcinoma that involves the submandibular gland. tmpte7i6ely_mondo_relaxed.owl submandibular gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the submandibular gland NCIT:C5939|SCTID:423424005|UMLS:C1336524 owl:Class MONDO:0006286 biolink:NamedThing major salivary gland mucoepidermoid carcinoma A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. tmpte7i6ely_mondo_relaxed.owl major salivary gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of Major salivary gland|mucoepidermoid carcinoma of the Major salivary gland|major salivary gland mucoepidermoid cancer NCIT:C5906|UMLS:C1334551|EFO:1000346 owl:Class UBERON:0005030 biolink:NamedThing mucosa of paranasal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001812 biolink:NamedThing positive regulation of type I hypersensitivity Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl activation of type I hypersensitivity|up regulation of type I hypersensitivity|up-regulation of type I hypersensitivity|stimulation of type I hypersensitivity|upregulation of type I hypersensitivity owl:Class GO:0002885 biolink:NamedThing positive regulation of hypersensitivity Any process that activates or increases the frequency, rate, or extent of hypersensitivity. tmpte7i6ely_mondo_relaxed.owl up regulation of hypersensitivity|upregulation of hypersensitivity|up-regulation of hypersensitivity|activation of hypersensitivity|stimulation of hypersensitivity owl:Class UBERON:0003712 biolink:NamedThing cavernous sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005486 biolink:NamedThing venous dural sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010788 biolink:NamedThing Leber hereditary optic neuropathy Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. tmpte7i6ely_mondo_relaxed.owl Leber Hereditary optic atrophy|Leber hereditary optic neuropathy|Leber optic atrophy|LHON|Leber’s disease|Leber's hereditary optic neuropathy|optic atrophy, Leber type|Leber's optic atrophy OMIM:535000|NCIT:C84808|MESH:D029242|GARD:0006870|SCTID:58610003|Orphanet:104|UMLS:C0917796|ICD10:H47.2|DOID:705|ICD10:H47.22|OMIM:308905 owl:Class NCBITaxon:426441 biolink:NamedThing Amblyomminae tmpte7i6ely_mondo_relaxed.owl Eschatocephalinae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044872 biolink:NamedThing dysautonomia An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. tmpte7i6ely_mondo_relaxed.owl dysautonomia NCIT:C53439 owl:Class MONDO:0001292 biolink:NamedThing autonomic nervous system disorder A disease involving the autonomic nervous system. tmpte7i6ely_mondo_relaxed.owl segmental autonomic dysfunction|autonomic diseases|disease or disorder of autonomic nervous system|peripheral autonomic nervous system diseases|nervous system diseases, sympathetic|disorder of the autonomic nervous system|autonomic nervous system disorder|autonomic disease|disorder of autonomic nervous system|autonomic nervous disease|autonomic nervous system disorders|autonomic nervous system disease|segmental autonomic dysfunctions|autonomic peripheral nervous system diseases|dysautonomia|nervous system diseases, autonomic|autonomic dysfunctions, segmental|central autonomic nervous system diseases|autonomic dysfunction, segmental|ANS disease|autonomic nervous system disease or disorder|ANS (autonomic nervous system) diseases|ANS diseases|autonomic central nervous system diseases|disease of autonomic nervous system|disorder of peripheral autonomic nervous system|disorders of the autonomic nervous system ICD9:337.1|MESH:D001342|ICD9:337.9|SCTID:15241006|DOID:11465|SCTID:128123007 Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html owl:Class UBERON:0003852 biolink:NamedThing rhombencephalon neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003099 biolink:NamedThing cranial neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041755 biolink:NamedThing twin reversal arterial perfusion syndrome tmpte7i6ely_mondo_relaxed.owl twin reversal arterial perfusion syndrome UMLS:C1562817|SCTID:417006004 owl:Class MONDO:0019805 biolink:NamedThing twin to twin transfusion syndrome Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated tmpte7i6ely_mondo_relaxed.owl Feto-fetal transfusion syndrome|stuck Twin syndrome|placental transfusion syndrome|fetal transfusion syndrome|fetal hemorrhage into co-twin|twin-to-twin transfusion syndrome|TTTS|Twin-to-twin blood transfer|Twin-Twin transfusion syndrome|Twin to twin transfusion|fetal blood loss from fetal hemorrhage into co-twin|Fetofetal transfusion syndrome DOID:13576|MedDRA:10058328|MESH:D005330|ICD10:O43.02|ICD10:O43.0|Orphanet:95431|SCTID:13404009|NCIT:C113824|ICD10:O43.029|EFO:1001221|GARD:0000325|UMLS:CN206761 owl:Class MONDO:0015397 biolink:NamedThing oculo-auriculo-vertebral spectrum tmpte7i6ely_mondo_relaxed.owl facioauriculovertebral dysplasia|OAVS|Goldenhar syndrome|Goldenhar disease|facioauriculovertebral sequence|OAVD|Fav sequence|oculoauriculovertebral spectrum|oculoauriculovertebral dysplasia|OAV spectrum|Expanded spectrum of hemifacial microsomia|unilateral or bilateral and asymmetric otomandibular dysplasia|oculoauriculovertebral syndrome|OAV (oculoauriculovertebral) dysplasia|facio-auriculo-vertebral spectrum|Expanded spectrum hemifacial microsomia|first and second branchial arch syndrome|first arch syndrome|OAV dysplasia|oculo-auriculo-vertebral dysplasia|hemifacial microsomia|HFM Orphanet:141132|GARD:0006540|NCIT:C84740|MESH:D006053|GARD:0012074|ICD10:Q87.0|UMLS:C0265240|SCTID:109393007|SCTID:367462009|Orphanet:374|OMIM:164210|DOID:2907|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum owl:Class MONDO:0015482 biolink:NamedThing otomandibular dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:155896 owl:Class MONDO:0100085 biolink:NamedThing cancer of long bone of upper limb A cancer that involves the upper limb long bone. tmpte7i6ely_mondo_relaxed.owl cancer of upper extremity long bone|cancer of long bone of forelimb|cancer of long bone of upper extremity|long bones of upper limb cancer|malignant neoplasm of upper limb long bone|cancer of fore limb long bone|malignant upper limb long bone neoplasm|cancer of long bone of fore limb http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001797 biolink:NamedThing chancroid Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. tmpte7i6ely_mondo_relaxed.owl Chancroids|Ulcus molle, skin GARD:0009522|UMLS:C0007947|ICD9:099.0|ICD10:A57|MESH:D002602|SCTID:266143009|DOID:13778 https://rarediseases.info.nih.gov/diseases/9522/chancroid owl:Class MONDO:0000386 biolink:NamedThing digestive system neuroendocrine tumor, grade 1/2 A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. tmpte7i6ely_mondo_relaxed.owl gastrointestinal system neuroendocrine tumor|gastrointestinal NET|gastroenteropancreatic NET|malignant gastrointestinal neuroendocrine tumor|gastrointestinal neuroendocrine tumors|gastroenteropancreatic neuroendocrine tumor|gastrointestinal neuroendocrine tumor|alimentary part of gastrointestinal system neuroendocrine tumor|digestive system neuroendocrine tumor|digestive system well differentiated neuroendocrine tumor|digestive system NET|GINET NCIT:C95404|ONCOTREE:GINET|UMLS:C2987127|DOID:0050626 owl:Class MONDO:0024503 biolink:NamedThing digestive system neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). tmpte7i6ely_mondo_relaxed.owl neuroendocrine neoplasm of digestive system|digestive system neuroendocrine neoplasm|neuroendocrine neoplasm of alimentary part of gastrointestinal system|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade|gastroenteropancreatic endocrine tumor|alimentary part of gastrointestinal system NET|alimentary part of gastrointestinal system neuroendocrine neoplasm|GEP-NET|carcinoid tumor of digestive system|gastro-enteropancreatic neuroendocrine tumor|alimentary part of gastrointestinal system neuroendocrine tumor|gastroenteropancreatic neuroendocrine neoplasm|digestive system neuroendocrine tumor|GEP-NEN|gastrointestinal system neuroendocrine neoplasm|digestive system NET|carcinoid tumor|GEP tumors|gastrointestinal neuroendocrine neoplasm NCIT:C27721|GARD:0002437|Orphanet:100092|MESH:C535650|UMLS:CN197371 https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor owl:Class NCBITaxon:35082 biolink:NamedThing Cryptosporidiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:423054 biolink:NamedThing Eimeriorina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010945 biolink:NamedThing retinitis pigmentosa 17 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 17|retinitis pigmentosa caused by mutation in CA4|RP 17|RP17|retinitis pigmentosa type 17|CA4 retinitis pigmentosa GARD:0010387|ICD10:H35.5|OMIM:600852|UMLS:C1833245|MESH:C563437|DOID:0110404 https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17 owl:Class MONDO:0020073 biolink:NamedThing adolescent-onset epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:G40.4|UMLS:CN206977|Orphanet:98260 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class HGNC:19750 biolink:NamedThing TTC7A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010485 biolink:NamedThing X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic type 13|Maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome|MCOPS13|microphthalmia, syndromic 13 OMIM:300915|UMLS:C3806742|ICD10:Q87.0|Orphanet:431140 owl:Class MONDO:0032596 biolink:NamedThing myasthenic syndrome, congenital, 23, presynaptic tmpte7i6ely_mondo_relaxed.owl CMS23|MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM:618197 owl:Class MONDO:0018940 biolink:NamedThing congenital myasthenic syndrome Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. tmpte7i6ely_mondo_relaxed.owl myasthenia gravis congenital|erb-Goldflam syndrome|familial limb-girdle myasthenia|congenital myasthenia|myasthenia gravis pseudoparalytica|CMS|congenital MG|myasthenic syndrome, congenital DOID:3635|OMIM:616323|OMIM:254210|OMIM:616330|OMIM:608930|OMIM:615120|Orphanet:590|GARD:0000098|ICD10:G70.2|OMIM:616304|OMIM:254300|SCTID:230672006|OMIM:616313|UMLS:C0751882|OMIM:614750|OMIM:616321|OMIM:616326|OMIM:616325|OMIM:254190|ICD9:358.00|OMIM:601462|ICD9:V17.89|OMIM:616228|OMIM:616322|OMIM:616720|OMIM:616227|OMIM:616324|OMIM:616040|OMIM:603034|OMIM:608931|OMIM:616314|OMIM:617143|OMIM:610542|NCIT:C84647|MESH:D020294|OMIMPS:601462|OMIM:605809|GARD:0011902|OMIM:614198 https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome owl:Class HGNC:6973 biolink:NamedThing MDM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011933 biolink:NamedThing ALG2-CDG A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl ALG2-CDG (CDG-II)|congenital disorder of glycosylation, type II|CDG II|congenital disorder of glycosylation type II|carbohydrate-deficient glycoprotein syndrome type 1I|CDG 1I|CDG1I|congenital disorder of glycosylation type 1i|CDG-II|CDG syndrome type II|carbohydrate deficient glycoprotein syndrome type II|mannosyltransferase 2 deficiency ICD10:E77.8|Orphanet:79326|GARD:0009836|OMIM:607906|DOID:0080561 owl:Class MONDO:0010083 biolink:NamedThing succinic semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. tmpte7i6ely_mondo_relaxed.owl SSADH deficiency|GABA metabolic defect|succinic semialdehyde dehydrogenase deficiency|Ssadh deficiency|gamma-hydroxybutyric aciduria|SSADH|gamma-hydroxybutyricaciduria|4-hydroxybutyric aciduria|SSADHD SCTID:49748000|MESH:C535803|Orphanet:22|DOID:0060175|GARD:0007695|UMLS:C0268631|ICD10:E72.8|OMIM:271980 https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency owl:Class GO:0030449 biolink:NamedThing regulation of complement activation Any process that modulates the frequency, rate or extent of complement activation. tmpte7i6ely_mondo_relaxed.owl regulation of complement cascade owl:Class MONDO:0004685 biolink:NamedThing Waldeyer's ring cancer A malignant neoplasm involving the tonsillar ring. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of tonsillar ring|malignant tumor of Waldeyer's ring|cancer of tonsillar ring|malignant neoplasm of Waldeyer's ring|tonsillar ring cancer|malignant tonsillar ring neoplasm|Waldeyer ring cancer ICD10:C14.2|UMLS:C0153406|ICD9:149.1|DOID:8937|SCTID:187716008 owl:Class UBERON:0002048 biolink:NamedThing lung tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005178 biolink:NamedThing thoracic cavity element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014978 biolink:NamedThing preimplantation embryonic lethality 2 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene. tmpte7i6ely_mondo_relaxed.owl PADI6 preimplantation embryonic lethality|preimplantation embryonic lethality type 2|preimplantation embryonic lethality 2|PREMBL2|preimplantation embryonic lethality caused by mutation in PADI6|preimplantation embryonic lethality 2; PREMBL2 UMLS:C4310659|OMIM:617234 owl:Class HGNC:10940 biolink:NamedThing SLC1A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013563 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 1 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. tmpte7i6ely_mondo_relaxed.owl multiple congenital anomalies-hypotonia-seizures syndrome 1|glycosylphosphatidylinositol biosynthesis defect 3|PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|multiple congenital anomalies-hypotonia-seizures syndrome|congenital disorder of glycosylation due to PIGN deficiency|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|multiple congenital anomalies-hypotonia-seizures syndrome type 1|multiple congenital anomalies - hypotonia - seizures syndrome|PIGN-CDG|MCAHS1 GARD:0012781|ICD10:Q87.8|UMLS:C3279775|DOID:0080138|OMIM:614080|Orphanet:280633 owl:Class MONDO:0100247 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:614080 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0100526 biolink:NamedThing Neoplasm of the lung Tumor of the lung. tmpte7i6ely_mondo_relaxed.owl Lung tumor|Lung tumour|Lung cancer NCIT:C3262|SNOMEDCT_US:126713003|MSH:D008175|UMLS:C0024121 doelkens 2010-12-20T11:47:12Z human_phenotype owl:Class HP:0002088 biolink:NamedThing Abnormal lung morphology Any structural anomaly of the lung. tmpte7i6ely_mondo_relaxed.owl Abnormality of the lungs|Abnormally shaped lung|Lung disease|Abnormality of lung structure|Unusal lung shape UMLS:C0024115|SNOMEDCT_US:19829001|UMLS:C4021760|MSH:D008171 human_phenotype owl:Class MONDO:0008182 biolink:NamedThing nasopalpebral lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. tmpte7i6ely_mondo_relaxed.owl Nasopalpebral lipoma coloboma syndrome|nasopalpebral lipoma-coloboma syndrome|NPLCS|NASOPALPEBRAL lipoma-coloboma syndrome|palpebral coloboma lipoma syndrome|palpebral coloboma-lipoma syndrome Orphanet:2399|GARD:0003927|OMIM:167730|SCTID:723411003|UMLS:C1868660|ICD10:Q10.3|MESH:C538338 https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome owl:Class MONDO:0006119 biolink:NamedThing breast mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor. tmpte7i6ely_mondo_relaxed.owl breast MALT lymphoma|breast mucosa-associated lymphoid tissue lymphoma UMLS:C1332633|NCIT:C35688|EFO:1000146 owl:Class MONDO:0007650 biolink:NamedThing MALT lymphoma An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl Extranodal marginal zone B-cell lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|MALToma|MALT lymphoma|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|familial primary gastric lymphoma|mucosa-associated lymphoid tissue lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)|lymphoma of mucosa-associated lymphoid tissue|mucosa-associated lymphatic tissue lymphoma|lymphoma, mucosa-associated lymphoid type|Immunocytoma|MALT-lymphoma|gastric lymphoma, primary EFO:0000191|ICD9:202.80|NCIT:C3898|UMLS:C0242647|DOID:0050909|ICDO:9699/3|SCTID:277622004|Wikipedia:MALT_lymphoma|OMIM:137245|ONCOTREE:EMALT|UMLS:C1850900|Orphanet:52417|GARD:0006485|ICD10:C88.4|MedDRA:10060707 owl:Class MONDO:0006502 biolink:NamedThing acute respiratory distress syndrome Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. tmpte7i6ely_mondo_relaxed.owl increased-permeability pulmonary edema|acute respiratory distress syndrome|ALI|Stiff lung|non-cardiogenic pulmonary edema|ARDS|shock lung|acute lung injury EFO:1000637|GARD:0005698|MedDRA:10001052|ICD10:J80|NCIT:C3353 This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] owl:Class MONDO:0003939 biolink:NamedThing muscle tissue disorder A disease involving the muscle tissue. tmpte7i6ely_mondo_relaxed.owl muscle tissue disease or disorder|disease or disorder of muscle tissue|disease of muscle tissue|muscle tissue disease|disorder of muscle tissue DOID:66 owl:Class MONDO:0032632 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 28 tmpte7i6ely_mondo_relaxed.owl MC1DN28|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 OMIM:618249 owl:Class CL:0002261 biolink:NamedThing endothelial cell of viscerocranial mucosa An endothelial cell found in the mucosa associated with the facial skeleton. tmpte7i6ely_mondo_relaxed.owl FMA:70627 tmeehan 2010-09-14T10:40:12Z CL:1000446 cell owl:Class MONDO:0019277 biolink:NamedThing epidermal appendage anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:79362 owl:Class MONDO:0024481 biolink:NamedThing skin appendage disorder A disease that involves the cutaneous appendage. tmpte7i6ely_mondo_relaxed.owl disorder of skin appendage|disease of epidermal appendages|disorder of cutaneous appendage|cutaneous appendage disease or disorder|disease of epidermal appendage|cutaneous appendage disease|disease of cutaneous appendage|disease or disorder of cutaneous appendage SCTID:238714008|UMLS:C0037272 owl:Class UBERON:0005897 biolink:NamedThing manus bone tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9001811 biolink:NamedThing exposure to protic solvent An exposure to protic solvent. tmpte7i6ely_mondo_relaxed.owl exposure to protic solvent owl:Class ECTO:0000650 biolink:NamedThing exposure to Bronsted acid An exposure to Bronsted acid. tmpte7i6ely_mondo_relaxed.owl exposure to Bronsted acid owl:Class MONDO:0100061 biolink:NamedThing PRPS1 deficiency disorder A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss. tmpte7i6ely_mondo_relaxed.owl PRPS1 deficiency disorder|PRPS1-related CMTX5/Arts syndrome/XLNSHL 2018-10-10 21:18:33+00:00 Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. owl:Class UBERON:0001330 biolink:NamedThing pampiniform plexus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001593 biolink:NamedThing venous plexus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16980 biolink:NamedThing CFHR3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002140 biolink:NamedThing vagina sarcoma A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl vagina sarcoma|sarcoma of the vagina|vaginal sarcoma|sarcoma of vagina UMLS:C0238519|NCIT:C7737|DOID:1901 owl:Class MONDO:0021085 biolink:NamedThing gastric neoplasm A benign or malignant neoplasm involving the stomach. tmpte7i6ely_mondo_relaxed.owl tumor of the stomach|gastric neoplasm|stomach neoplasm|gastric tumor|stomach neoplasm (disease)|stomach tumor|neoplasm of stomach|neoplasm of the stomach|tumor of stomach UMLS:C0038356|NCIT:C3387|SCTID:126824007|MESH:D013274|EFO:0003897 owl:Class MONDO:0008389 biolink:NamedThing autosomal dominant Robinow syndrome Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. tmpte7i6ely_mondo_relaxed.owl Robinow syndrome, autosomal dominant type|autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant OMIM:616331|ICD10:Q87.1|UMLS:C0265205|OMIM:180700|SCTID:76520005|ICD9:759.89|OMIM:616894|UMLS:CN203673|Orphanet:97360|Orphanet:3107 owl:Class CL:0002246 biolink:NamedThing peripheral blood stem cell A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells). tmpte7i6ely_mondo_relaxed.owl PBSC FMA:86711|BTO:0002669 tmeehan 2010-09-07T03:57:09Z cell owl:Class CL:0000037 biolink:NamedThing hematopoietic stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. tmpte7i6ely_mondo_relaxed.owl hemopoietic stem cell|blood forming stem cell|HSC|colony forming unit hematopoietic CALOHA:TS-0448|VHOG:0001485|FMA:70337|FMA:86475|BTO:0000725 Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. cell owl:Class GO:1902221 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid. tmpte7i6ely_mondo_relaxed.owl erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism owl:Class MONDO:0009903 biolink:NamedThing postaxial acrofacial dysostosis Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. tmpte7i6ely_mondo_relaxed.owl GWAFD|POADS syndrome|Wildervanck-Smith syndrome|postaxial acrofacial dysostosis (POADS) syndrome|Genee-Wiedemann acrofacial dysostosis|postaxial acrofacial dysostosis|Genee-Wiedemann syndrome|postaxial acrodysostosis|POADS|Miller syndrome|acrofacial dysostosis, Genee-Wiedmann type|Mandibulfacial dysostosis with postaxial limb anomalies UMLS:C0265257|ICD10:Q75.4|ICD9:759.89|SCTID:66038001|Orphanet:246|DOID:0111259|OMIM:263750|GARD:0008410|MESH:C537680 owl:Class PATO:0000407 biolink:NamedThing flat A quality inhering in a bearer by virtue of the bearer's having a horizontal surface without a slope, tilt, or curvature. tmpte7i6ely_mondo_relaxed.owl plate-like owl:Class PATO:0002254 biolink:NamedThing flattened A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane. tmpte7i6ely_mondo_relaxed.owl compressed owl:Class GO:2000542 biolink:NamedThing negative regulation of gastrulation Any process that stops, prevents or reduces the frequency, rate or extent of gastrulation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045992 biolink:NamedThing negative regulation of embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. tmpte7i6ely_mondo_relaxed.owl downregulation of embryonic development|down-regulation of embryonic development|inhibition of embryonic development|down regulation of embryonic development owl:Class UBERON:0015766 biolink:NamedThing epithelium of duct of salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034969 biolink:NamedThing epithelial layer of duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060596 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal limb anomalies tmpte7i6ely_mondo_relaxed.owl NEDDFL|neurodevelopmental disorder with dysmorphic facies and distal limb anomalies UMLS:C4540327|OMIM:617755|Orphanet:528084 Editor note: Check ORDO class, may refer to more generic class owl:Class MONDO:0002108 biolink:NamedThing thyroid cancer A malignant neoplasm involving the thyroid gland tmpte7i6ely_mondo_relaxed.owl malignant tumour of thyroid gland|thyroid gland cancer|malignant thyroid neoplasm|cancer of thyroid gland|malignant thyroid gland tumor|malignant neoplasm of thyroid gland|malignant tumor of the thyroid|neoplasm of thyroid gland|malignant thyroid tumor|malignant tumor of the thyroid gland|thyroid gland neoplasm|malignant neoplasm of the thyroid gland|malignant tumor of thyroid|malignant thyroid gland neoplasm|malignant neoplasm of thyroid|malignant neoplasm of the thyroid|malignant tumor of thyroid gland UMLS:CN221577|KEGG:05216|ICD10:C73|ICD9:193|SCTID:127018007|SCTID:363478007|NCIT:C7510|DOID:1781 owl:Class MONDO:0015074 biolink:NamedThing thyroid tumor A benign or malignant neoplasm affecting the thyroid gland. tmpte7i6ely_mondo_relaxed.owl tumor of thyroid gland|neoplasm of the thyroid|tumor of the thyroid|THYROID|neoplasm of the thyroid gland|tumor of thyroid|thyroid gland tumor|thyroid tumor|neoplasm of thyroid|thyroid neoplasms|neoplasm of thyroid gland|thyroid neoplasm|tumor of the thyroid gland|thyroid gland neoplasm (disease)|thyroid gland neoplasm ONCOTREE:THYROID|SCTID:127018007|NCIT:C3414|ICD9:239.7|Orphanet:100087|EFO:0003841 Editor note: TODO MONDO:0021217 owl:Class MONDO:0006522 biolink:NamedThing acquired keratosis Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications. tmpte7i6ely_mondo_relaxed.owl acquired keratosis|acquired hyperkeratosis|keratoderma, acquired|acquired keratoderma|keratoderma - acquired ICD9:701.1|DOID:13072|SCTID:400166009|EFO:1000663|NCIT:C34746 owl:Class MONDO:0006566 biolink:NamedThing keratosis A skin disorder consisting of hypertrophy of the stratum corneum of the skin. tmpte7i6ely_mondo_relaxed.owl keratoderma DOID:161|UMLS:C0022593|SCTID:254666005|MESH:D007642|NCIT:C34747|EFO:1000720|NCIT:C34745 owl:Class MONDO:0011248 biolink:NamedThing distal monosomy 13q Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. tmpte7i6ely_mondo_relaxed.owl monosomy 13q32|13q32 deletion|deletion 13q32|telomeric deletion13q|anal atresia, hypospadias, and penoscrotal inversion|distal monosomy type 13q|distal 13q deletion SCTID:763527007|UMLS:C1865208|Orphanet:1590|ICD10:Q93.5|OMIM:602553|MESH:C566526 owl:Class MONDO:0015246 biolink:NamedThing syndromic anorectal malformation A anorectal malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic anorectal malformation|syndrome associated with anorectal malformation UMLS:CN226645|Orphanet:117573 owl:Class MONDO:0010440 biolink:NamedThing autism, susceptibility to, X-linked 4 tmpte7i6ely_mondo_relaxed.owl AUTSX4|chromosome Xp22 deletion syndrome|autism, susceptibility to, X-linked 4|susceptibility to autism, X-linked|X-linked susceptibility to autism-4|susceptibility to X-linked autism 4|autism, susceptibility to, X-linked type 4 OMIM:300830|GARD:0003775 https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4 owl:Class MONDO:0002164 biolink:NamedThing focal chorioretinitis tmpte7i6ely_mondo_relaxed.owl SCTID:15847003|ICD10:H30.0|UMLS:C0154870|ICD10:H30.00|DOID:1979|ICD9:363.0|ICD9:363.00 owl:Class MONDO:0004674 biolink:NamedThing chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. tmpte7i6ely_mondo_relaxed.owl chorioretinitis|retinochoroiditis|chorioretinitis (disease) chorioretinitis (disease) MESH:D002825|SCTID:46627006|UMLS:C0008513|ICD10:H30|DOID:8886|HP:0012424|ICD9:363.20|ICD10:H30.9|GARD:0006060|NCIT:C110923 owl:Class MONDO:0017621 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch and lactose intolerance tmpte7i6ely_mondo_relaxed.owl CSID with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance|congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|disaccharide intolerance with starch and lactose intolerance Orphanet:306474|ICD10:E74.3 owl:Class MONDO:0009114 biolink:NamedThing congenital sucrase-isomaltase deficiency A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose. tmpte7i6ely_mondo_relaxed.owl disaccharide intolerance, 1|invertase deficiency|sucrose-isomaltose malabsorption, congenital|disaccharide intolerance 1|congenital sucrose malabsorption|sucrose intolerance, congenital|disaccharide intolerance i|congenital sucrose-isomaltase intolerance|sucrase-alpha-dextrinase deficiency|congenital sucrose intolerance|congenital sucrose-isomaltase malabsorption|disaccharide intolerance|intestinal sucrase-a-dextrinase deficiency|congenital sucrase-isomaltose malabsorption|sucrase-isomaltase deficiency, congenital|genetic sucrase-isomaltose malabsorption|sucrase-isomaltase deficiency|congenital sucrase-isomaltase deficiency|sucrose intolerance congenital|CSID|SI deficiency|sucrose-isomaltase malabsorption, congenital|sucrose isomaltose enzyme deficiency ICD10:E74.3|MedDRA:10066387|MESH:C538139|Orphanet:35122|SCTID:78373000|DOID:0111633|GARD:0006183|OMIM:222900|UMLS:C1283620|NCIT:C128190|ICD9:271.3|GARD:0007710 https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency|https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption owl:Class MONDO:0018384 biolink:NamedThing avascular necrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic avascular necrosis ICD10:M93.9|Orphanet:399388 owl:Class HGNC:16171 biolink:NamedThing CHMP4B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011719 biolink:NamedThing gastrointestinal stromal tumor Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. tmpte7i6ely_mondo_relaxed.owl gastrointestinal stromal neoplasm|gastrointestinal stromal sarcoma|gant|gastrointestinal stromal tumor|gastrointestinal stromal tumors|gist|stromal tumor of gastrointestinal tract|gastrointestinal stromal tumor (gist) SCTID:420120006|GARD:0008598|MESH:D046152|NCIT:C3868|UMLS:C0238198|OMIM:606764|ICD10:C26.9|MedDRA:10051066|DOID:9253|Orphanet:44890|ICDO:8936/1|UMLS:C3179349|ONCOTREE:GIST owl:Class MONDO:0006708 biolink:NamedThing Desulfovibrionaceae infectious disease Infections with bacteria of the family Desulfovibrionaceae. tmpte7i6ely_mondo_relaxed.owl infection, Desulfovibrio|Desulfovibrio infection|Desulfovibrionaceae disease or disorder|infections, Desulfovibrionaceae|commensal Bilophila infection|infections, Lawsonia|Bilophila infections|infection, Lawsonia|Desulfovibrio infections|infections, Desulfovibrio|Desulfovibrionaceae infection|Lawsonia infections|Bilophila infection|infection, Desulfovibrionaceae|Desulfovibrionaceae caused disease or disorder|Lawsonia infection|infections, Bilophila|infection, Bilophila MESH:D045824|EFO:1000875 owl:Class MONDO:0021678 biolink:NamedThing gram-negative bacterial infections Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. tmpte7i6ely_mondo_relaxed.owl infections, gram negative bacterial|bacterial infections, gram negative|infections, gram-negative bacterial|gram negative bacterial infections|infection, gram-negative bacterial|bacterial infections, gram-negative|bacterial infection, gram-negative|gram-negative bacterial infection SCTID:371583007|MESH:D016905|ICD9:041.85 Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now owl:Class UBERON:0011582 biolink:NamedThing paired limb/fin skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:78616 biolink:NamedThing carbohydrates and carbohydrate derivatives Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. tmpte7i6ely_mondo_relaxed.owl carbohydrates and their derivatives|carbohydrates and derivatives owl:Class MONDO:0030048 biolink:NamedThing harderoporphyria tmpte7i6ely_mondo_relaxed.owl HARDEROPORPHYRIA|HARPO|harderoporphyria OMIM:618892 owl:Class MONDO:0010686 biolink:NamedThing N syndrome N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. tmpte7i6ely_mondo_relaxed.owl NSX|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia|N syndrome|intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia OMIM:310465|DOID:0050769|SCTID:723410002|Orphanet:2608|MESH:C536108|UMLS:C2936859|GARD:0003902|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3902/n-syndrome owl:Class UBERON:0004415 biolink:NamedThing proximal epiphysis of metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098661 biolink:NamedThing inorganic anion transmembrane transport The process in which an inorganic anion is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl inorganic anion membrane transport|transmembrane inorganic anion transport owl:Class GO:0098656 biolink:NamedThing anion transmembrane transport The process in which an anion is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl ATP hydrolysis coupled anion transmembrane transport owl:Class CHEBI:48730 biolink:NamedThing aluminosilicate mineral Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals. tmpte7i6ely_mondo_relaxed.owl Alumosilikate|aluminosilicato|Alumosilikat|aluminosilicates owl:Class CHEBI:46663 biolink:NamedThing silicate mineral tmpte7i6ely_mondo_relaxed.owl Silikat|silicato|Silikatminerale|Silikate|silicates|silicate minerals|silicatos owl:Class GO:0005355 biolink:NamedThing glucose transmembrane transporter activity Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl glucose permease activity|lactose/glucose efflux transporter activity|galactose/glucose (methylgalactoside) porter activity owl:Class GO:0015149 biolink:NamedThing hexose transmembrane transporter activity Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001957 biolink:NamedThing intramembranous ossification Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells. tmpte7i6ely_mondo_relaxed.owl dermal ossification|intramembranous bone ossification owl:Class GO:0036072 biolink:NamedThing direct ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016231 biolink:NamedThing capillary malformation tmpte7i6ely_mondo_relaxed.owl congenital malformation of capillary|rare capillary malformation Orphanet:211247|SCTID:234118009 owl:Class MONDO:0016230 biolink:NamedThing simple vascular malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:211243 owl:Class SO:0000669 biolink:NamedThing sequence_rearrangement_feature A feature where a segment of DNA has been rearranged from what it was in the parent cell. tmpte7i6ely_mondo_relaxed.owl sequence rearrangement feature owl:Class HGNC:14988 biolink:NamedThing POFUT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1062 biolink:NamedThing BLVRA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013104 biolink:NamedThing basal cell carcinoma, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl BCC4|basal cell carcinoma, susceptibility to, 4 UMLS:C2751602|OMIM:613061 owl:Class MONDO:0006098 biolink:NamedThing atypical lobular breast hyperplasia Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast. tmpte7i6ely_mondo_relaxed.owl atypical lobular hyperplasia of breast|atypical lobular hyperplasia|atypical lobular hyperplasia of the breast|ALH|atypical breast lobular hyperplasia|atypical lobular breast hyperplasia EFO:1000100|NCIT:C4730|ICD9:610.8|SCTID:450697004 owl:Class MONDO:0000653 biolink:NamedThing integumentary system cancer A malignant neoplasm involving the integumental system tmpte7i6ely_mondo_relaxed.owl integumental system cancer|cancer of integumental system|malignant integumental system neoplasm|malignant neoplasm of integumental system DOID:0060122 owl:Class MONDO:0010694 biolink:NamedThing nystagmus, myoclonic tmpte7i6ely_mondo_relaxed.owl myoclonic nystagmus|nystagmus, myoclonic GARD:0009605|MESH:C564088|OMIM:310800|UMLS:C1839579 https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic owl:Class MONDO:0005712 biolink:NamedThing congenital nystagmus Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) tmpte7i6ely_mondo_relaxed.owl nystagmus|motor congenital nystagmus|congenital idiopathic nystagmus|congenital pathologic nystagmus|nystagmus, congenital Orphanet:651|OMIM:608345|SCTID:64635004|OMIM:193003|OMIM:300814|OMIM:300589|OMIM:164100|HP:0000639|MESH:D020417|OMIMPS:310700|DOID:9649|EFO:0007217|ICD9:379.51|ICD10:H55.01|OMIM:614826 owl:Class MONDO:0016685 biolink:NamedThing low-grade astrocytoma tmpte7i6ely_mondo_relaxed.owl MedDRA:10065869|Orphanet:251592 owl:Class MONDO:0019781 biolink:NamedThing astrocytoma (excluding glioblastoma) A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. tmpte7i6ely_mondo_relaxed.owl astrocytoma ICDO:9400/3|ONCOTREE:ASTR|NCIT:C60781|UMLS:C0004114|SCTID:147101000119108|MESH:D001254 This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 owl:Class MONDO:0016853 biolink:NamedThing ring chromosome Y Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. tmpte7i6ely_mondo_relaxed.owl Ring chromosome type Y|r(Y)|Ring chromosome Y syndrome ICD10:Q98.6|SCTID:763407008|Orphanet:261529 owl:Class MONDO:0019765 biolink:NamedThing Celosomia tmpte7i6ely_mondo_relaxed.owl ICD10:Q76.7|ICD9:759.89|Orphanet:93942|SCTID:44518003 owl:Class MONDO:0015215 biolink:NamedThing non-syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated diaphragmatic or abdominal wall malformation|nonsyndromic diaphragmatic or abdominal wall malformation Orphanet:108977 owl:Class MONDO:0016024 biolink:NamedThing shoulder and thorax deformity-congenital heart disease syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|Orphanet:1940 owl:Class MONDO:0015929 biolink:NamedThing thoracic malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:182108 owl:Class MONDO:0014336 biolink:NamedThing intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency tmpte7i6ely_mondo_relaxed.owl intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|mental retardation, autosomal dominant 23|intellectual disability, autosomal dominant 23|MRD23|autosomal dominant non-syndromic intellectual disability 23|autosomal dominant mental retardation 23|intellectual disability, autosomal dominant type 23|mental retardation, autosomal dominant type 23|autosomal dominant intellectual disability 23 DOID:0070053|UMLS:C3810406|ICD10:Q87.0|OMIM:615761|Orphanet:404440 owl:Class UBERON:0007123 biolink:NamedThing pharyngeal pouch 2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012729 biolink:NamedThing erythrocytosis, familial, 4 Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene. tmpte7i6ely_mondo_relaxed.owl erythrocytosis, familial, 4|ECYT4|familial polycythemia caused by mutation in EPAS1|erythrocytosis, familial, type 4|EPAS1 familial polycythemia DOID:0080339|UMLS:C2673187|OMIM:611783|Orphanet:247511|MESH:C567086 owl:Class MONDO:0001115 biolink:NamedThing familial polycythemia Polycythemia that occurs in groups of related individuals. tmpte7i6ely_mondo_relaxed.owl primary polycythemia|erythrocytosis, familial|familial polycythemia|hereditary polycythemia (disease) DOID:10780|NCIT:C26955|SCTID:17342003|OMIMPS:133100|ICD10:D75.0|ICD9:289.6 owl:Class CHEBI:50691 biolink:NamedThing abortifacient A chemical substance that interrupts pregnancy after implantation. tmpte7i6ely_mondo_relaxed.owl abortifacient agent|abortifacient agents|abortifacient drugs|abortifacients|abortifacient drug owl:Class CHEBI:50689 biolink:NamedThing reproductive control drug A substance used either in the prevention or facilitation of pregnancy. tmpte7i6ely_mondo_relaxed.owl reproductive control agent|reproductive control drugs owl:Class NCBITaxon:2732092 biolink:NamedThing Shotokuvirae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2731342 biolink:NamedThing Monodnaviria tmpte7i6ely_mondo_relaxed.owl single-stranded DNA viruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006717 biolink:NamedThing autopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:138950 biolink:NamedThing Enterovirus C tmpte7i6ely_mondo_relaxed.owl Enterovirus EV-C|Poliovirus|Human enterovirus C GC_ID:1 NCBITaxon:138953 ncbi_taxonomy owl:Class NCBITaxon:12059 biolink:NamedThing Enterovirus tmpte7i6ely_mondo_relaxed.owl Enteroviruses GC_ID:1 NCBITaxon:12128 ncbi_taxonomy owl:Class MONDO:0017642 biolink:NamedThing intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|Orphanet:3067|UMLS:CN227166 owl:Class GO:1902019 biolink:NamedThing regulation of cilium-dependent cell motility Any process that modulates the frequency, rate or extent of cilium-dependent cell motility. tmpte7i6ely_mondo_relaxed.owl regulation of ciliary cell motility|regulation of cilium cell motility owl:Class MONDO:0002272 biolink:NamedThing polyclonal hypergammaglobulinemia A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. tmpte7i6ely_mondo_relaxed.owl polyclonal hypergammaglobulinemia UMLS:C0154254|SCTID:190808009|DOID:2344|ICD10:D89.0|NCIT:C35885|ICD9:273.0 Editor note: check HP:0003459 Polyclonal elevation of IgM owl:Class MONDO:0002273 biolink:NamedThing plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. tmpte7i6ely_mondo_relaxed.owl DOID:2345|ICD9:273.8 owl:Class MONDO:0011906 biolink:NamedThing congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. tmpte7i6ely_mondo_relaxed.owl bile acid synthesis defect, congenital, 1|bile acid synthesis defect, congenital, type 1|congenital bile acid synthesis defect 1|BASD1|CBAS1|congenital bile acid synthesis defect type 1|HSD3B7 congenital bile acid synthesis defect|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1|3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency|congenital bile acid synthesis defect, type 1|3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of|congenital bile acid synthesis defect caused by mutation in HSD3B7 ICD10:K76.8|GARD:0009813|OMIM:607765|Orphanet:79301|MESH:C535442|DOID:0111071 owl:Class UBERON:0006290 biolink:NamedThing scapula cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034874 biolink:NamedThing air in respiratory system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034947 biolink:NamedThing gas in respiratory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020322 biolink:NamedThing acute biphenotypic leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl B- and T-cell mixed leukemia OMIM:601626|UMLS:C0023464|SCTID:278453007|MESH:D015456|Orphanet:98837|DOID:9953|MedDRA:10067399|EFO:1000828|ICD10:C95.0|NCIT:C4673|ICDO:9805/3|ICD9:207.80 owl:Class MONDO:0004967 biolink:NamedThing acute lymphoblastic leukemia Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. tmpte7i6ely_mondo_relaxed.owl precursor lymphoblastic leukemia|lymphoblastic leukemia|acute lymphocytic leukemias|acute lymphogenous leukemia|acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|lymphoblastic leukemia, acute|acute lymphoid leukemia|leukemia, lymphoblastic, malignant|precursor cell lymphoblastic leukemia|acute lymphoblastic leukemia (disease)|ALL|acute lymphocytic leukaemia|acute lymphocytic leukemia|ALL - acute lymphocytic leukemia|acute lymphoblastic leukemia/lymphoma|precursor Lymphoblasic leukemia acute lymphoblastic leukemia (disease) OMIM:613065|Orphanet:513|ICD9:204.00|ICD10:C91.90|ICD10:C91.9|ICDO:9835/3|OMIM:613067|DOID:9952|SCTID:91857003|NCIT:C3167|ICD10:C91.0|OMIM:247640|EFO:0000220|ICD9:204|OMIM:615545|UMLS:C0023448|ICD10:C91|ICD9:204.9|ICD10:C91.00|ICD9:204.0|GARD:0000522|DOID:1037|MESH:D007945|HP:0006721 owl:Class MONDO:0017143 biolink:NamedThing genetic infertility Genetic infertility. tmpte7i6ely_mondo_relaxed.owl genetic infertility|hereditary infertility disorder Orphanet:275742 owl:Class GO:0060050 biolink:NamedThing positive regulation of protein glycosylation Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein amino acid glycosylation owl:Class GO:0060049 biolink:NamedThing regulation of protein glycosylation Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpte7i6ely_mondo_relaxed.owl regulation of protein amino acid glycosylation owl:Class HGNC:6250 biolink:NamedThing KCNH1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000913 biolink:NamedThing interstitial fluid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000463 biolink:NamedThing organism substance Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.|Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. tmpte7i6ely_mondo_relaxed.owl body fluid or substance|portion of body substance|body substance|portion of organism substance|organism substance owl:Class MONDO:0008551 biolink:NamedThing thoracolaryngopelvic dysplasia A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. tmpte7i6ely_mondo_relaxed.owl autosomal dominant thoracolaryngopelvic dysplasia|THORACOPELVIC dysostosis|Barnes syndrome|THORACOLARYNGOPELVIC dysplasia|TLPD|thoracolaryngopelvic dysplasia OMIM:187760|Orphanet:3317|UMLS:C1861197|SCTID:723556008|GARD:0005184|OMIM:187770|ICD10:Q77.2|MESH:C536517 owl:Class MONDO:0019691 biolink:NamedThing short rib dysplasia tmpte7i6ely_mondo_relaxed.owl SRP|short-rib dysplasia (with or without polydactyly)|ciliopathies with major skeletal involvement ICD9:756.3|SCTID:254050009|Orphanet:93426|ICD10:Q77.2 owl:Class UBERON:0003558 biolink:NamedThing diencephalon arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003556 biolink:NamedThing forebrain arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009664 biolink:NamedThing mulibrey nanism A prenatal onset growth disorder with multiorgan manifestations. tmpte7i6ely_mondo_relaxed.owl pericardial constriction-growth failure syndrome|pericardial constriction and Growth failure|mulibrey dwarfism|mulibrey nanism|MUL|Perheentupa syndrome|muscle-liver-brain-eye nanism|pericardial constriction and growth failure NCIT:C84906|UMLS:C0524582|GARD:0000095|Orphanet:2576|ICD10:Q87.1|UMLS:C2931895|ICD9:759.89|MESH:D050336|SCTID:81604003|DOID:0050436|OMIM:253250 https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0004031 biolink:NamedThing ovary mixed epithelial carcinoma tmpte7i6ely_mondo_relaxed.owl mixed ovarian carcinoma|mixed epithelial carcinoma of ovary DOID:6898|ONCOTREE:MXOV Editor note: TODO owl:Class MONDO:0005140 biolink:NamedThing ovarian carcinoma A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002 tmpte7i6ely_mondo_relaxed.owl ovarian cancer|ovarian carcinoma|epithelial ovarian cancer|carcinoma of the ovary|ovarian epithelial cancer|ovary carcinoma|carcinoma of ovary MESH:D010051|EFO:0001075|DOID:4001|MESH:C538090|OMIM:167000|NCIT:C4908 Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT. owl:Class MONDO:0016561 biolink:NamedThing 1q44 microdeletion syndrome 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. tmpte7i6ely_mondo_relaxed.owl monosomy 1q44|chromosome 1q44 microdeletion syndrome|Del(1)(q44) UMLS:CN201644|GARD:0010943|UMLS:C4304540|ICD10:Q93.5|Orphanet:238769|SCTID:719649004 https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome owl:Class MONDO:0022756 biolink:NamedThing chromosome 1q deletion Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl monosomy 1q|deletion 1q|partial monosomy of chromosome 1q|partial deletion of the long arm of chromosome type 1|partial monosomy of the long arm of chromosome 1|partial monosomy 1q|1q deletion|partial deletion of chromosome 1q|1q monosomy|partial deletion of the long arm of chromosome 1 UMLS:CN072190|GARD:0008669|Orphanet:262001|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion owl:Class MONDO:0005800 biolink:NamedThing hordeolum An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. tmpte7i6ely_mondo_relaxed.owl Stye|boil of eyelid|furuncle of eyelid|eyelid gland blepharitis|blepharitis of eyelid gland NCIT:C118722|SCTID:1489008|EFO:0007315|UMLS:C0019917|MESH:D006726|DOID:9909|ICD10:H00.01|SCTID:397513003 owl:Class MONDO:0015371 biolink:NamedThing linear atrophoderma of Moulin Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene. tmpte7i6ely_mondo_relaxed.owl UMLS:C1274753|Orphanet:140933|ICD10:L90.8|SCTID:403395007 owl:Class UBERON:0002090 biolink:NamedThing postcranial axial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009966 biolink:NamedThing regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction. tmpte7i6ely_mondo_relaxed.owl regulation of signalling pathway|regulation of signaling pathway owl:Class GO:0032838 biolink:NamedThing plasma membrane bounded cell projection cytoplasm All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013669 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 4 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. tmpte7i6ely_mondo_relaxed.owl RAD51D hereditary breast ovarian cancer syndrome|hereditary breast ovarian cancer syndrome caused by mutation in RAD51D|breast-ovarian cancer, familial, susceptibility to, 4|breast-ovarian cancer, familial, susceptibility to, type 4|BROVCA4|susceptibility to familial breast-ovarian cancer 4 OMIM:614291|Orphanet:145 owl:Class MONDO:0003582 biolink:NamedThing hereditary breast ovarian cancer syndrome An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. tmpte7i6ely_mondo_relaxed.owl BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|familial breast and ovarian cancer syndrome|hereditary breast ovarian cancer syndrome|hereditary breast and ovarian cancer syndrome|familial breast/ovarian cancer (BRCA1, BRCA2)|syndromes, HBOC|syndrome, HBOC|hereditary breast/ovarian cancer (BRCA1, BRCA2)|hereditary breast ovarian cancer|HBOC syndromes|HBOC syndrome|hereditary breast and ovarian cancer|breast-ovarian cancer, familial, susceptibility to|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) SCTID:718220008|OMIMPS:604370|Orphanet:145|ICD10:C56|UMLS:C0677776|NCIT:C8493|OMIM:612555|DOID:5683|ICD10:C50|GARD:0012352|MESH:D061325|OMIM:613399|OMIM:614291|OMIM:604370|GARD:0012351 Editor note: https://github.com/monarch-initiative/mondo/issues/84 owl:Class UBERON:0002348 biolink:NamedThing epicardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021447 biolink:NamedThing benign neoplasm of testis A benign neoplasm that involves the testis. tmpte7i6ely_mondo_relaxed.owl benign testicular neoplasm|testis benign neoplasm|benign tumor of the testis|benign tumor of testis|benign neoplasm of the testis|benign testicular tumor NCIT:C3612|UMLS:C0154007|SCTID:92428008|ICD9:222.0 owl:Class MONDO:0014997 biolink:NamedThing nephronophthisis 20 Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis type 20|nephronophthisis 20|MAPKBP1 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in MAPKBP1|NPHP20 UMLS:C4310640|DOID:0111127|OMIM:617271 owl:Class UBERON:0006953 biolink:NamedThing ejaculatory duct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010257 biolink:NamedThing prostate cancer, hereditary, X-linked 1 tmpte7i6ely_mondo_relaxed.owl prostate cancer susceptibility, X-linked|prostate cancer, hereditary, X-linked 1|HPCX1 OMIM:300147|UMLS:C1846279 owl:Class MONDO:0021404 biolink:NamedThing polyp of sphenoidal sinus A polyp that involves the sphenoidal sinus. tmpte7i6ely_mondo_relaxed.owl polyp of sphenoid sinus|sphenoid sinus polyp|sphenoidal sinus polyp|polyp of the sphenoid sinus|polyp of the sphenoidal sinus UMLS:C0264255|ICD9:471.8|NCIT:C3933|SCTID:90685008 owl:Class MONDO:0001608 biolink:NamedThing vagus nerve neoplasm A neoplasm involving a vagus nerve. tmpte7i6ely_mondo_relaxed.owl neoplasm of tenth cranial nerve|neoplasm of the tenth cranial nerve|neoplasm of Vagus nerve|Vagus nerve neoplasm|tumor of Vagus nerve|vagus nerve neoplasm (disease)|vagus nerve tumor|tumor of vagus nerve|Xth cranial nerve neoplasms|Vagus nerve tumors|tenth cranial nerve neoplasm|tumor of the tenth cranial nerve|Vagus nerve tumor|neoplasm of the Vagus nerve|tenth cranial nerve neoplasms|Xth cranial nerve tumors|tumor of tenth cranial nerve|tenth cranial nerve tumor|tumor of the Vagus nerve|Vagus nerve neoplasms|tenth cranial nerve tumors|neoplasm of vagus nerve SCTID:126976007|UMLS:C1263901|NCIT:C5831|ICD9:239.7|DOID:12984 owl:Class MONDO:0002638 biolink:NamedThing glossopharyngeal nerve neoplasm A neoplasm involving a glossopharyngeal nerve. tmpte7i6ely_mondo_relaxed.owl IXth cranial nerve neoplasms|neoplasm of glossopharyngeal nerve|glossopharyngeal nerve neoplasms|Ninth cranial nerve neoplasm|Ninth cranial nerve tumor|Ninth cranial nerve neoplasms|glossopharyngeal nerve tumor|Ninth cranial nerve tumors|IXth cranial nerve tumors|tumor of Ninth cranial nerve|tumor of the glossopharyngeal nerve|neoplasm of Ninth cranial nerve|glossopharyngeal nerve tumors|neoplasm of the Ninth cranial nerve|tumor of the Ninth cranial nerve|tumor of glossopharyngeal nerve|glossopharyngeal nerve neoplasm (disease)|neoplasm of the glossopharyngeal nerve|glossopharyngeal nerve neoplasm NCIT:C5828|DOID:3417|SCTID:126975006|UMLS:C1263900|ICD9:239.7 owl:Class MONDO:0002153 biolink:NamedThing telogen effluvium A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. tmpte7i6ely_mondo_relaxed.owl NCIT:C112200|ICD10:L65.0|SCTID:39479004|ICD9:704.02|DOID:1943|UMLS:C0263518 owl:Class MONDO:0004907 biolink:NamedThing alopecia Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. tmpte7i6ely_mondo_relaxed.owl loss Of hair|alopecia areata|hair loss|alopecia MESH:D000505|NCIT:C50575|SCTID:56317004|OMIM:300042|UMLS:C0002170|ICD9:704.00|DOID:987|ICD10:L65.9|Orphanet:79364|ICD9:704.09|ICD9:704.0 owl:Class UBERON:0001350 biolink:NamedThing coccyx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006076 biolink:NamedThing caudal region of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050679 biolink:NamedThing positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation. tmpte7i6ely_mondo_relaxed.owl activation of epithelial cell proliferation|up-regulation of epithelial cell proliferation|upregulation of epithelial cell proliferation|stimulation of epithelial cell proliferation|up regulation of epithelial cell proliferation owl:Class MONDO:0005598 biolink:NamedThing dopaminergic neuroblastoma A neuroblastoma associated with increased dopamine excretion. tmpte7i6ely_mondo_relaxed.owl EFO:0006391|PMID:3385588 owl:Class MONDO:0005072 biolink:NamedThing neuroblastoma Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. tmpte7i6ely_mondo_relaxed.owl NB|neuroblastoma (Schwannian Stroma-poor)|neural Crest tumor, malignant|neuroblastoma, malignant|neuroblastoma OMIM:613015|UMLS:CN205405|SCTID:432328008|DOID:769|OMIM:613017|OMIM:256700|EFO:0000621|ONCOTREE:NBL|OMIM:616792|OMIM:613013|NIFSTD:birnlex_12631|UMLS:C0027819|GARD:0007185|ICD10:C74.9|ICDO:9500/3|OMIM:613014|OMIM:613016|MedDRA:10029260|MESH:D009447|NCIT:C3270|Orphanet:635 NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma owl:Class MONDO:0005990 biolink:NamedThing tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. tmpte7i6ely_mondo_relaxed.owl chronic tracheitis|acute tracheitis|tracheal Inflammation|inflammation of tracheal mucosa|tracheal mucosa inflammation ICD10:J04.1|SCTID:62994001|NCIT:C78643|UMLS:C0040584|DOID:9392|MESH:D014136|UMLS:C0149513|ICD9:464.1|EFO:0007518|UMLS:C0264322 MONDO:0020691 owl:Class MONDO:0010695 biolink:NamedThing occipital hair, white lock of tmpte7i6ely_mondo_relaxed.owl occipital hair, white lock of OMIM:310900 owl:Class MONDO:0012957 biolink:NamedThing multiple sclerosis, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl MS3|multiple sclerosis, susceptibility to, 3 OMIM:612595 owl:Class MONDO:0005301 biolink:NamedThing multiple sclerosis A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. tmpte7i6ely_mondo_relaxed.owl insular sclerosis|generalized multiple sclerosis MESH:D009103|DOID:2377|OMIM:612595|ICD10:G35|OMIM:612594|NCIT:C3243|Orphanet:802|OMIM:612596|SCTID:24700007|OMIM:614810|EFO:0003885|OMIM:126200|ICD9:340|UMLS:C0026769 owl:Class HGNC:25801 biolink:NamedThing CPLANE1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000314 biolink:NamedThing cecum mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004481 biolink:NamedThing musculature of upper limb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007269 biolink:NamedThing pectoral appendage musculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014793 biolink:NamedThing microcephaly-congenital cataract-psoriasiform dermatitis syndrome tmpte7i6ely_mondo_relaxed.owl sterol-C4-methyl oxidase deficiency|smo deficiency|Sc4Mol deficiency|microcephaly, congenital cataract, and psoriasiform dermatitis|MCCPD Orphanet:488168|UMLS:C4225189|OMIM:616834 owl:Class OBO:CHR_9606-chr2q31.2 biolink:NamedThing 2q31.2 (Human) tmpte7i6ely_mondo_relaxed.owl 179700000 177100000 hg38 owl:Class MONDO:0024532 biolink:NamedThing otofaciocervical syndrome 1 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene. tmpte7i6ely_mondo_relaxed.owl otofaciocervical syndrome 1|otofaciocervical syndrome caused by mutation in EYA1|OTFCS|EYA1 otofaciocervical syndrome|OFC|OFC1 UMLS:C3714941|Orphanet:2792|UMLS:CN034490|OMIM:166780 owl:Class MONDO:0008163 biolink:NamedThing otofaciocervical syndrome Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. tmpte7i6ely_mondo_relaxed.owl OFC syndrome|Fara-Chlupackova syndrome OMIM:615560|GARD:0004169|OMIMPS:166780|OMIM:166780|UMLS:C1833691|UMLS:C3714941|ICD10:Q87.0|Orphanet:2792 owl:Class MONDO:0013271 biolink:NamedThing frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome tmpte7i6ely_mondo_relaxed.owl frontonasal dysplasia 3|frontonasal dysplasia type 3|FND3|ALX1-related frontonasal dysplasia OMIM:613456|UMLS:C3150706|Orphanet:306542|GARD:0012640 https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome owl:Class OBO:MFOMD_0000107 biolink:NamedThing compulsion The need to perform acts or to dwell on thoughts to reduce anxiety. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014947 biolink:NamedThing developmental and epileptic encephalopathy, 46 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 46|early infantile epileptic encephalopathy caused by mutation in GRIN2D|GRIN2D early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 46|epileptic encephalopathy, early infantile, 46; EIEE46|EIEE46|DEE46 UMLS:C4310687|OMIM:617162|DOID:0080456 owl:Class MONDO:0100455 biolink:NamedThing neonatal-onset developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4058 owl:Class GO:0002696 biolink:NamedThing positive regulation of leukocyte activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. tmpte7i6ely_mondo_relaxed.owl up regulation of leukocyte activation|upregulation of leukocyte activation|stimulation of leukocyte activation|positive regulation of immune cell activation|positive regulation of leucocyte activation|activation of leukocyte activation|up-regulation of leukocyte activation owl:Class MONDO:0019972 biolink:NamedThing dural sinus malformation tmpte7i6ely_mondo_relaxed.owl cranial dural arteriovenous fistula|cranial dural arteriovenous malformations ICD10:Q28.3|Orphanet:97339 owl:Class MONDO:0001256 biolink:NamedThing arteriovenous hemangioma/malformation A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. tmpte7i6ely_mondo_relaxed.owl arteriovenous hemangioma/malformation|racemose hemangioma|arteriovenous malformation|racemose angioma|racemose aneurysm|cirsoid aneurysm|arteriovenous hemangioma|arteriovenous angioma|racemose hemangioma (morphologic abnormality)|racemose aneurysm (morphologic abnormality) HP:0100026|ICDO:9123/0|SCTID:233982006|DOID:11294|UMLS:C0334533|NCIT:C2882|CSP:0571-2717|MESH:D001165|ICD10:I77.0 Editor note: NCIT conflates hemangioma and malformation owl:Class MONDO:0020494 biolink:NamedThing oculootodental syndrome Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. tmpte7i6ely_mondo_relaxed.owl OOD OMIM:166750|ICD10:K00.2|Orphanet:99806|UMLS:C2750325 owl:Class MONDO:0016910 biolink:NamedThing partial deletion of the long arm of chromosome 11 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11. tmpte7i6ely_mondo_relaxed.owl loss of chromosome 11q|11q deletion|monosomy 11q|11q monosomy|partial deletion of chromosome 11q|deletion 11q|del(11q)|Deletion 11q partial|partial monosomy 11q|partial monosomy of chromosome 11q|partial deletion of the long arm of chromosome type 11|chromosome 11q deletion|monosomy 11q partial|chromosome 11q partial deletion|partial monosomy of the long arm of chromosome 11 GTR:AN0100478|MESH:C538296|GTR:AN0100480|GARD:0001735|UMLS:CN035778|GTR:AN0100479|Orphanet:262092|NCIT:C37312|ICD10:Q93.5 owl:Class MONDO:0005966 biolink:NamedThing spleen cancer A malignant neoplasm involving the spleen tmpte7i6ely_mondo_relaxed.owl malignant splenic neoplasm|splenic neoplasm|malignant neoplasm of spleen|malignant neoplasm of the spleen|spleen cancer|malignant tumour of spleen|malignant spleen neoplasm|splenic cancer|cancer of spleen|cancer of the spleen|malignant tumor of spleen|malignant tumor of the spleen|spleen neoplasm|malignant splenic tumor DOID:672|MESH:D013160|SCTID:127230005|ICD10:C26.1|NCIT:C3539|EFO:0007491 owl:Class MONDO:0008640 biolink:NamedThing vasculitis, lymphocytic, nodular Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis. tmpte7i6ely_mondo_relaxed.owl lymphocytic vasculitis|vasculitis lymphocytic, nodular|vasculitis, lymphocytic, nodular MESH:C566008|GARD:0006941|UMLS:C1860519|OMIM:192310 https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis owl:Class MONDO:0011759 biolink:NamedThing Hurler-Scheie syndrome Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis type I-S|Hurler-Scheie syndrome|mucopolysaccharidosis type 1H/S|mucopolysaccharidosis, mps-I-s|MPS1-HS|Scheie's syndrome|Scheie disease mps type 1s|MPSIH/S|mucopolysaccharidosis type IH/S|l-iduronidase deficiency, Scheie type|MPS I H-S|Hurler–Scheie syndrome|mucopolysaccharidosis type Ih/S|MPS1H/S|mucopolysaccharidosis type I mild form|mucopolysaccharidosis IH/S ICD10:E76.0|OMIM:607015|DOID:0111389|Orphanet:579|SCTID:73123008|Orphanet:93476|GARD:0012560|MedDRA:10056916|UMLS:C0086431|NCIT:C122782 owl:Class MONDO:0021246 biolink:NamedThing pharynx neoplasm A neoplasm (disease) that involves the pharynx. tmpte7i6ely_mondo_relaxed.owl pharyngeal tumor|neoplasm of pharynx|tumor of the pharynx|tumor of pharynx|pharynx neoplasm (disease)|neoplasm of the pharynx|pharyngeal neoplasms|pharynx tumor NCIT:C3325 owl:Class MONDO:0010960 biolink:NamedThing protocadherin 3 tmpte7i6ely_mondo_relaxed.owl Pcdh3|protocadherin 3|protocadherin type 3 OMIM:600931 owl:Class MONDO:0006030 biolink:NamedThing chronic cystitis Recurrent infections of the urinary bladder. tmpte7i6ely_mondo_relaxed.owl cystitis, chronic ICD9:595.2|EFO:1000023|NCIT:C27008|SCTID:33655002|ICD10:N30.2|UMLS:C0221763|DOID:1680 owl:Class MONDO:0016006 biolink:NamedThing Cockayne syndrome Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Neill-Dingwall syndrome|Cockayne's syndrome|progeroid nanism|progeria-like syndrome|dwarfism-retinal atrophy-deafness syndrome ICD10:Q87.1|SCTID:21086008|DOID:2962|MedDRA:10009835|OMIM:216400|ICD9:759.89|Orphanet:90322|OMIM:610758|OMIM:610756|GARD:0006122|MESH:D003057|OMIM:214150|OMIM:278780|OMIM:616570|NCIT:C9460|OMIM:216411|Orphanet:90321|Orphanet:90324|UMLS:C0009207|Orphanet:191|OMIM:133540 owl:Class MONDO:0004884 biolink:NamedThing eye degenerative disorder A neurodegenerative disease that involves the eye. tmpte7i6ely_mondo_relaxed.owl degenerative disorder of eye|eye neurodegenerative disease|neurodegenerative disease of eyeball of camera-type eye|degenerative disorder of globe|eyeball of camera-type eye neurodegenerative disease UMLS:C0154777|SCTID:62585004|ICD9:360.20|DOID:9799|ICD10:H44.5|ICD9:360.4|ICD9:360.2|ICD9:360.40|ICD10:H44.30|ICD9:360.29 owl:Class MONDO:0060640 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy|NEDMEBA OMIM:617862|UMLS:CN787271 owl:Class UBERON:0009501 biolink:NamedThing mesenchyme of fronto-nasal process tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007213 biolink:NamedThing mesenchyme derived from head neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014736 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Z Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene. tmpte7i6ely_mondo_relaxed.owl MORC2 Charcot-Marie-Tooth disease|CMT2Z|Charcot-Marie-Tooth disease caused by mutation in MORC2|Charcot-Marie-Tooth neuropathy type 2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|autosomal dominant Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth disease, axonal, type 2Z|Charcot-Marie-Tooth disease, axonal, type 2z|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth neuropathy, type 2Z|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation UMLS:C4225243|DOID:0110181|OMIM:616688|Orphanet:466768 owl:Class MONDO:0100271 biolink:NamedThing peroxisome biogenesis disorder due to PEX26 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene. tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX26 defect|PEX26 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0002847 biolink:NamedThing skeletal muscle cancer A malignant neoplasm arising from skeletal muscle. tmpte7i6ely_mondo_relaxed.owl malignant skeletal muscle tissue neoplasm|malignant neoplasm of skeletal muscle tissue|malignant tumor of skeletal muscle|skeletal muscle tissue cancer|malignant neoplasm of the skeletal muscle|cancer of skeletal muscle tissue|malignant tumor of the skeletal muscle|malignant neoplasm of skeletal muscle|malignant skeletal muscle neoplasm|malignant skeletal muscle tumor NCIT:C6516|UMLS:C1334619|DOID:4043 owl:Class MONDO:0002848 biolink:NamedThing skeletal muscle neoplasm A benign or malignant mesenchymal neoplasm arising from skeletal muscle. tmpte7i6ely_mondo_relaxed.owl skeletal muscle tissue neoplasm (disease)|skeletal muscle tumor|neoplasm of the skeletal muscle|neoplasm of skeletal muscle tissue|skeletal muscle tissue tumor|tumor of the skeletal muscle|tumor of skeletal muscle tissue|neoplasm of skeletal muscle|skeletal muscle neoplasm|tumor of skeletal muscle|skeletal muscle tissue neoplasm NCIT:C6514|ICD9:239.2|UMLS:C1335971|DOID:4044|SCTID:699955004 owl:Class ECTO:9001718 biolink:NamedThing exposure to anti-inflammatory drug An exposure to anti-inflammatory drug. tmpte7i6ely_mondo_relaxed.owl exposure to anti-inflammatory drug owl:Class ECTO:9001982 biolink:NamedThing exposure to anti-inflammatory agent An exposure to anti-inflammatory agent. tmpte7i6ely_mondo_relaxed.owl exposure to anti-inflammatory agent owl:Class MONDO:0100148 biolink:NamedThing X-linked complex neurodevelopmental disorder A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. tmpte7i6ely_mondo_relaxed.owl X-linked complex neurodevelopmental disorder http://orcid.org/0000-0001-5208-3432 owl:Class GO:1903786 biolink:NamedThing regulation of glutathione biosynthetic process Any process that modulates the frequency, rate or extent of glutathione biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of glutathione biosynthesis|regulation of glutathione formation|regulation of glutathione anabolism|regulation of glutathione synthesis owl:Class MONDO:0011790 biolink:NamedThing Amish lethal microcephaly Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. tmpte7i6ely_mondo_relaxed.owl microcephaly, Amish type|Amish lethal microcephaly|thiamine metabolism dysfunction syndrome 3 (microcephaly type)|MCPHA Orphanet:99742|ICD10:Q02|GARD:0008606|MESH:C538247|OMIM:607196|UMLS:C1846648|SCTID:702437000 https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly owl:Class MONDO:0013646 biolink:NamedThing chromosome 8q21.11 deletion syndrome 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. tmpte7i6ely_mondo_relaxed.owl monosomy 8q21.11|chromosome 8q21.11 deletion syndrome|Del(8)(q21.11)|8q21.11 microdeletion syndrome|deletion 8q21.11 OMIM:614230|UMLS:C3280231|UMLS:C4305343|SCTID:718615003|ICD10:Q93.5|Orphanet:284160|DOID:0060425 owl:Class UBERON:0002485 biolink:NamedThing prostate duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005904 biolink:NamedThing duct of male reproductive system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003057 biolink:NamedThing pediatric meningioma A meningioma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of childhood|childhood meningioma|pediatric meningioma|childhood meningioma (disease)|meningioma|pediatric meningioma (disease) UMLS:C0280656|DOID:4593|NCIT:C8264 owl:Class GO:0051649 biolink:NamedThing establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpte7i6ely_mondo_relaxed.owl establishment of cellular localization|establishment of intracellular localization|establishment of localization within cell|establishment of localisation in cell|positioning within cell owl:Class GO:0051234 biolink:NamedThing establishment of localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpte7i6ely_mondo_relaxed.owl establishment of localisation owl:Class MONDO:0003805 biolink:NamedThing malignant pericardial mesothelioma A rare neoplasm of mesothelial origin that arises from the pericardium. tmpte7i6ely_mondo_relaxed.owl pericardium mesothelioma|malignant pericardial mesothelioma|malignant mesothelioma of pericardium|malignant mesothelioma (disease) of pericardium|malignant mesothelioma of the pericardium|pericardial malignant mesothelioma|pericardial mesothelioma|pericardium malignant mesothelioma (disease) UMLS:C0346110|DOID:6201|ICD10:C45.2|UMLS:C1335381|SCTID:109383000|HP:0100004|NCIT:C7631 owl:Class MONDO:0006292 biolink:NamedThing malignant mesothelioma A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos. tmpte7i6ely_mondo_relaxed.owl mesothelioma, malignant|malignant tumor of mesothelium|malignant neoplasm of the mesothelium|malignant mesothelial neoplasm|malignant tumor of the mesothelium|malignant mesothelioma (disease)|malignant mesothelioma|MESOM|diffuse malignant mesothelioma|malignant neoplasm of mesothelium|advanced malignant mesothelioma|asbestos-related malignant mesothelioma|malignant mesothelial tumor malignant mesothelioma (disease) HP:0100001|UMLS:C0812413|MESH:C562839|OMIM:156240|MedDRA:10027406|ICD10:C45.0|EFO:1000355|DOID:1790|UMLS:C1332338|MESH:D008654|ICD9:199.1|UMLS:C0278752|UMLS:C0345967|GARD:0007026|NCIT:C4456|ICDO:9050/3|Orphanet:50251|UMLS:C0025500|SCTID:109378008 owl:Class MONDO:0017278 biolink:NamedThing autoimmune polyendocrinopathy A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. tmpte7i6ely_mondo_relaxed.owl autoimmune polyglandular syndrome(s)|autoimmune polyendocrinopathy|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome|autoimmune polyglandular syndrome|autoimmune polyendocrine syndrome|Lloyd's syndrome|autoimmune polyglandular failure|autoimmune polyendocrinopathy syndrome|APS ICD9:258.8|NCIT:C84576|Orphanet:282196|UMLS:C0085409|DOID:14040|NCIT:C129726|SCTID:41864002|ICD10:E31.0|UMLS:C4316913 owl:Class MONDO:0000569 biolink:NamedThing autoimmune disorder of endocrine system A hypersensitivity reaction type II disease that involves the endocrine system. tmpte7i6ely_mondo_relaxed.owl endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease UMLS:C0342552|ICD9:279.49|DOID:0060005|SCTID:237822008 owl:Class GO:0050820 biolink:NamedThing positive regulation of coagulation Any process that activates or increases the frequency, rate or extent of coagulation. tmpte7i6ely_mondo_relaxed.owl up regulation of coagulation|positive regulation of clotting|activation of coagulation|stimulation of coagulation|upregulation of coagulation|up-regulation of coagulation owl:Class MONDO:0008907 biolink:NamedThing PMM2-CDG PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. tmpte7i6ely_mondo_relaxed.owl CDG1A|congenital disorder of glycosylation type 1a|carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|phosphomannomutase 2 deficiency|CDG-IA|carbohydrate-deficient glycoprotein syndrome type 1A|PMM2-CDG|congenital disorder of glycosylation, type Ia|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|carbohydrate-deficient glycoprotein syndrome, type Ia|PMM2-CDG (CDG-Ia)|congenital disorder of glycosylation type Ia|Jaeken syndrome|CDG syndrome type Ia|carbohydrate deficient glycoprotein syndrome type Ia|CDG 1A Orphanet:79318|MESH:C535739|ICD10:E77.8|DOID:0080552|UMLS:C0349653|NCIT:C126868|SCTID:459063003|GARD:0009826|OMIM:212065 owl:Class UBERON:0002324 biolink:NamedThing muscle of back tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001774 biolink:NamedThing skeletal muscle of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012934 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, type 3|leukemia, chronic lymphocytic, susceptibility to, 3|Clls3 OMIM:612557|Orphanet:67038 owl:Class MONDO:0006226 biolink:NamedThing gastric mucosa-associated lymphoid tissue lymphoma A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy. tmpte7i6ely_mondo_relaxed.owl MALT lymphoma of the stomach|primary MALT lymphoma of stomach|primary MALT lymphoma of the stomach|MALT lymphoma of stomach|MALToma of stomach|primary gastric B-cell MALT lymphoma|stomach MALT lymphoma|gastric MALToma|primary gastric MALT lymphoma|MALToma of the stomach|gastric mucosa-associated lymphoid tissue lymphoma|gastric MALT lymphoma NCIT:C5266|UMLS:C1333782|EFO:1000274 owl:Class ENVO:01001068 biolink:NamedThing meteoroid An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000799 biolink:NamedThing astronomical body An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. tmpte7i6ely_mondo_relaxed.owl celestial body owl:Class GO:0010821 biolink:NamedThing regulation of mitochondrion organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrion organisation owl:Class GO:0033043 biolink:NamedThing regulation of organelle organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpte7i6ely_mondo_relaxed.owl regulation of organelle organization and biogenesis|regulation of organelle organisation owl:Class MONDO:0009894 biolink:NamedThing short-rib thoracic dysplasia 6 with or without polydactyly A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. tmpte7i6ely_mondo_relaxed.owl short rib-polydactyly syndrome, type 2|short-rib thoracic dysplasia 6 with or without polydactyly|Srps, type 2|polydactyly with neonatal chondrodystrophy, type 2|short rib-polydactyly syndrome type II|polydactyly with neonatal chondrodystrophy type II|Majewski syndrome|polydactyly with neonatal chondrodystrophy, type II|short rib-polydactyly syndrome type IIA|SRPS2A|short rib-polydactyly syndrome, type 2A|SRTD6 OMIM:263520|Orphanet:93269|DOID:0110092|NCIT:C122654|ICD10:Q77.2 owl:Class MONDO:0019662 biolink:NamedThing short rib-polydactyly syndrome, Majewski type tmpte7i6ely_mondo_relaxed.owl short rib-polydactyly syndrome type 2|SRPS type 2|short rib-polydactyly syndrome Majewski type|polydactyly with neonatal chondrodystrophy type 2 ICD10:Q77.2|SCTID:72922008|ICD9:756.3|OMIM:263520|Orphanet:93269|GARD:0004833|OMIM:613091 owl:Class UBERON:0003312 biolink:NamedThing mesenchyme of testis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000242 biolink:NamedThing tinea barbae A dermatophytosis that involves the beard. tmpte7i6ely_mondo_relaxed.owl dermatophytosis of beard|beard dermatophytosis DOID:0050096|UMLS:C2349994|SCTID:399329002 owl:Class MONDO:0004678 biolink:NamedThing dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. tmpte7i6ely_mondo_relaxed.owl fungal skin diseases|dermatomycosis|fungal skin disease|skin diseases, fungal|skin disease, fungal|ringworm DOID:8913|NCIT:C26745|ICD9:110|SCTID:47382004|ICD10:B35.9|ICD9:110.9|UMLS:C0011636|ICD10:B35|ICD9:110.8 Editor note: check cutaneous vs superficial owl:Class MONDO:0004669 biolink:NamedThing salivary gland cancer A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl salivary gland cancer|malignant neoplasm of saliva-secreting gland|saliva-secreting gland cancer|malignant saliva-secreting gland neoplasm|cancer of salivary gland|malignant neoplasm of salivary gland|malignant neoplasm of major salivary gland|malignant tumor of the salivary gland|malignant tumor of salivary gland|malignant salivary gland tumor|malignant neoplasm of salivary gland duct|cancer of the salivary gland|malignant salivary gland neoplasm|malignant neoplasm of the salivary gland|cancer of saliva-secreting gland MESH:D012468|DOID:8850|ICD10:C08|SCTID:255072001|NCIT:C3811|ICD9:142.8 owl:Class HGNC:9964 biolink:NamedThing DPF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015137 biolink:NamedThing periodic fever syndrome Fevers of unknown etiology recurring over months or years. tmpte7i6ely_mondo_relaxed.owl UMLS:C0015974|NCIT:C118240|Orphanet:101995|UMLS:C3889979|MedDRA:10034533|ICD10:E85.0 owl:Class MONDO:0023368 biolink:NamedThing Ho-Kaufman-McAlister syndrome Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet tmpte7i6ely_mondo_relaxed.owl cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|Ho Kaufman McAlister syndrome MESH:C538325|GARD:0001266|UMLS:C2931819 https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome owl:Class GO:0006900 biolink:NamedThing vesicle budding from membrane The evagination of a membrane, resulting in formation of a vesicle. tmpte7i6ely_mondo_relaxed.owl vesicle formation|single-organism membrane budding|single organism membrane budding|nonselective vesicle assembly|membrane evagination|vesicle biosynthesis|vesicle budding owl:Class GO:0061024 biolink:NamedThing membrane organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpte7i6ely_mondo_relaxed.owl membrane organisation|membrane organization and biogenesis|single-organism membrane organization|cellular membrane organization|cellular membrane organisation owl:Class MONDO:0010238 biolink:NamedThing hearing loss, X-linked 4 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene. tmpte7i6ely_mondo_relaxed.owl X-linked nonsyndromic deafness caused by mutation in SMPX|SMPX X-linked nonsyndromic deafness|deafness, X-linked 4|deafness, X-linked type 4|deafness, X-linked 6, progressive|deafness, nonsyndromic sensorineural progressive 6|DFNX4 DOID:0111735|MESH:C564723|OMIM:300066|UMLS:C1848204|Orphanet:90625 owl:Class MONDO:0019586 biolink:NamedThing X-linked nonsyndromic hearing loss X-linked form of nonsyndromic deafness. tmpte7i6ely_mondo_relaxed.owl X-linked non-syndromic sensorineural hearing loss type DFN|X-linked isolated neurosensory deafness type DFN|nonsyndromic genetic deafness, X-linked|X-linked isolated sensorineural deafness type DFN|X-linked non-syndromic neurosensory deafness type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked deafness|X-linked non-syndromic neurosensory hearing loss type DFN|X-linked nonsyndromic genetic deafness|X-linked isolated sensorineural hearing loss type DFN|X-linked non-syndromic sensorineural deafness type DFN|X-linked nonsyndromic deafness|nonsyndromic deafness, X-linked OMIM:304400|OMIM:300614|UMLS:CN206422|Orphanet:90625|OMIM:300914|ICD10:H90.3|OMIM:300030|DOID:0050566|OMIM:300066|OMIM:304500 ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 owl:Class MONDO:0010085 biolink:NamedThing Schilder disease Schilder's disease is a progressive demyelinating disorder of the central nervous system. tmpte7i6ely_mondo_relaxed.owl Myelinoclastic diffuse sclerosis|Schilder disease|Schilder's disease|SUDANOPHILIC cerebral sclerosis ICD10:G37.0|OMIM:272100|Orphanet:59298|UMLS:C0007795|ICD9:341.1|SCTID:49692006 owl:Class MONDO:0016428 biolink:NamedThing multiple sclerosis variant tmpte7i6ely_mondo_relaxed.owl Orphanet:228145 owl:Class MONDO:0016362 biolink:NamedThing attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. tmpte7i6ely_mondo_relaxed.owl attenuated adenomatous polyposis coli|AAPC|HFAS|attenuated FAP|hereditary flat adenoma syndrome|attenuated familial polyposis coli|AFAP|attenuated familial adenomatous polyposis|mild form of FAP OMIM:612591|SCTID:715866009|MESH:C538265|ICD10:D12.6|OMIM:616415|OMIM:608456|GARD:0008532|NCIT:C6729|UMLS:C2674616|Orphanet:220460|OMIM:615083|OMIM:175100 owl:Class MONDO:0021057 biolink:NamedThing classic or attenuated familial adenomatous polyposis An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP. tmpte7i6ely_mondo_relaxed.owl classic or attenuated familial adenomatous polyposis|classic or attenuated FAP owl:Class CL:0002503 biolink:NamedThing adventitial cell A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc tmpte7i6ely_mondo_relaxed.owl BTO:0002441|FMA:84639 tmeehan 2010-12-07T04:03:56Z cell owl:Class GO:0044703 biolink:NamedThing multi-organism reproductive process A biological process that directly contributes to the process of producing new individuals, involving another organism. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022414 biolink:NamedThing reproductive process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpte7i6ely_mondo_relaxed.owl single organism reproductive process owl:Class MONDO:0015238 biolink:NamedThing arrhinia-choanal atresia-microphthalmia syndrome Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. tmpte7i6ely_mondo_relaxed.owl congenital absence of nose and anterior nasopharynx|arhinia choanal atresia microphthalmia|Bosma Henkin Christiansen syndrome|Bosma arhinia microphthalmia syndrome ICD10:Q87.0|OMIM:603457|GARD:0008755|Orphanet:1135 https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia owl:Class NCBITaxon:662 biolink:NamedThing Vibrio tmpte7i6ely_mondo_relaxed.owl Microspira|Pacinia|Listonella|Beneckea PMID:7520733|PMID:21057054|PMID:24409173|PMID:4935323|PMID:21296930|PMID:17978204|PMID:8590667|GC_ID:11|PMID:1371064 NCBITaxon:705 ncbi_taxonomy owl:Class NCBITaxon:641 biolink:NamedThing Vibrionaceae tmpte7i6ely_mondo_relaxed.owl gamma-3 proteobacteria PMID:4954820|PMID:15143042|GC_ID:11|PMID:8427811 ncbi_taxonomy owl:Class UBERON:0015814 biolink:NamedThing outer ear epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:39142 biolink:NamedThing Bronsted base A molecular entity capable of accepting a hydron from a donor (Bronsted acid). tmpte7i6ely_mondo_relaxed.owl accepteur d'hydron|Bronsted base|base de Bronsted|hydron acceptor|Bronsted-Base owl:Class CHEBI:22695 biolink:NamedThing base A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). tmpte7i6ely_mondo_relaxed.owl bases|Base|base|Nucleobase|Base1|Base2|Basen owl:Class GO:0030154 biolink:NamedThing cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004272 biolink:NamedThing urinary bladder tuberculosis A tuberculosis that involves the urinary bladder. tmpte7i6ely_mondo_relaxed.owl tuberculosis of bladder|bladder tuberculous|bladder tuberculosis|urinary bladder tuberculosis|tuberculosis of bladder, unspecified examination|tuberculous cystitis DOID:754|SCTID:32268008|ICD9:016.14|ICD9:016.1|ICD10:A18.12|ICD9:016.10|UMLS:C0152793 owl:Class MONDO:0006026 biolink:NamedThing urinary bladder disorder A disease involving the urinary bladder. tmpte7i6ely_mondo_relaxed.owl urinary bladder disease|disease of urinary bladder|urinary bladder disorder|bladder disorder|disorder of urinary bladder|bladder disease|disease or disorder of urinary bladder|urinary bladder disease or disorder EFO:1000018|MESH:D001745|ICD9:596.8|DOID:365|SCTID:42643001|NCIT:C2900|UMLS:C0005686|ICD10:N32.9|ICD9:596.9 owl:Class GO:1905879 biolink:NamedThing regulation of oogenesis Any process that modulates the frequency, rate or extent of oogenesis. tmpte7i6ely_mondo_relaxed.owl regulation of ovum development owl:Class GO:2000241 biolink:NamedThing regulation of reproductive process Any process that modulates the frequency, rate or extent of reproductive process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018894 biolink:NamedThing distal hereditary motor neuropathy tmpte7i6ely_mondo_relaxed.owl dSMA|distal spinal muscular atrophy|dHMN GARD:0012683|Orphanet:53739|SCTID:230247001 https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy owl:Class MONDO:0024257 biolink:NamedThing hereditary motor neuron disease An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic anterior horn cell disease|hereditary motor neuron disease|genetic motor neuron disease UMLS:CN207018|SCTID:49793008|Orphanet:98505 owl:Class UBERON:0002329 biolink:NamedThing somite tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007503 biolink:NamedThing epithelial vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35358 biolink:NamedThing sulfonamide An amide of a sulfonic acid RS(=O)2NR'2. tmpte7i6ely_mondo_relaxed.owl sulfonamides owl:Class CHEBI:33256 biolink:NamedThing primary amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpte7i6ely_mondo_relaxed.owl primary amides|primary amide owl:Class GO:0051254 biolink:NamedThing positive regulation of RNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpte7i6ely_mondo_relaxed.owl upregulation of RNA metabolic process|up regulation of RNA metabolic process|positive regulation of RNA metabolism|activation of RNA metabolic process|up-regulation of RNA metabolic process|stimulation of RNA metabolic process owl:Class GO:0051252 biolink:NamedThing regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpte7i6ely_mondo_relaxed.owl regulation of RNA metabolism owl:Class MONDO:0032749 biolink:NamedThing hearing loss, autosomal recessive 94 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 94|DFNB94 OMIM:618434|DOID:0111641 owl:Class NCBITaxon:10375 biolink:NamedThing Lymphocryptovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10374 biolink:NamedThing Gammaherpesvirinae tmpte7i6ely_mondo_relaxed.owl Gammaherpesviruses|lymphoproliferative virus group GC_ID:1 ncbi_taxonomy owl:Class GO:0051154 biolink:NamedThing negative regulation of striated muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl downregulation of striated muscle cell differentiation|inhibition of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation owl:Class GO:0048240 biolink:NamedThing sperm capacitation A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. tmpte7i6ely_mondo_relaxed.owl sperm activation owl:Class MONDO:0019259 biolink:NamedThing classic phenylketonuria Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. tmpte7i6ely_mondo_relaxed.owl classic PKU Orphanet:79254|UMLS:C0751434|ICD10:E70.0|MedDRA:10034875 https://github.com/monarch-initiative/mondo/issues/1738 owl:Class MONDO:0009861 biolink:NamedThing phenylketonuria Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. tmpte7i6ely_mondo_relaxed.owl phenylpyruvic oligophrenia|hyperphenylalaninemia, non-PKU mild|oligophrenia Phenylpyruvica|HPA, non-PKU mild|phenylalanine hydroxylase deficiency|phenylalaninemia|oligophrenia phenylpyruvica|phenylketonuria|PAH deficiency|phenylketonuria, maternal|imbecilitus phenylpyruvica|PKU NCIT:C81315|SCTID:7573000|Orphanet:716|Orphanet:2209|DOID:9281|ICD9:270.1|MESH:D010661|OMIM:261600|ICD10:E70.1|ICD10:E70.0|UMLS:C0031485|MedDRA:10034872|GARD:0007383 owl:Class NCBITaxon:2072716 biolink:NamedThing Spiruromorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6274 biolink:NamedThing Spirurina tmpte7i6ely_mondo_relaxed.owl Spirurida GC_ID:1 NCBITaxon:6294 ncbi_taxonomy owl:Class UBERON:0003508 biolink:NamedThing pedal digit blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015856 biolink:NamedThing syndromic breast hypoplasia/aplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:180193|UMLS:CN226755 owl:Class MONDO:0015853 biolink:NamedThing deficient breast volume or number tmpte7i6ely_mondo_relaxed.owl Orphanet:180173 owl:Class MONDO:0011679 biolink:NamedThing craniosynostosis syndrome, autosomal recessive Autosomal recessive form of craniosynostosis. tmpte7i6ely_mondo_relaxed.owl craniosynostosis, autosomal recessive|craniosynostosis syndrome, autosomal recessive|autosomal recessive craniosynostosis MESH:C564700|UMLS:C1847865|OMIM:606529 owl:Class MONDO:0000544 biolink:NamedThing mucosal melanoma A melanoma that arises from a mucosal site. tmpte7i6ely_mondo_relaxed.owl mucosal melanoma NCIT:C114828|DOID:0050929|UMLS:C3898222 owl:Class MONDO:0020579 biolink:NamedThing mucositis Inflammation of the mucous membranes. tmpte7i6ely_mondo_relaxed.owl inflammation of mucosa|mucositis|mucosa inflammation NCIT:C115965 owl:Class MONDO:0004816 biolink:NamedThing refractory plasma cell neoplasm A plasma cell neoplasm that is resistant to treatment. tmpte7i6ely_mondo_relaxed.owl refractory plasma cell neoplasm NCIT:C7813|DOID:9544|UMLS:C0278620 owl:Class MONDO:0013510 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 6|melanoma, cutaneous malignant, susceptibility to, type 6|CMM6|susceptibility to cutaneous malignant melanoma 6 OMIM:613972|Orphanet:618 owl:Class MONDO:0018961 biolink:NamedThing familial melanoma Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. tmpte7i6ely_mondo_relaxed.owl hereditary melanoma (disease) ICD10:C43.4|GARD:0003460|OMIM:609048|UMLS:C2314896|ICD10:C43.3|OMIM:608035|DOID:6846|ICD10:C43.0|ICD10:C43.6|OMIM:155601|Orphanet:618|OMIM:615848|ICD10:C43.5|OMIM:615134|ICD10:C43.7|OMIM:613099|OMIM:155700|ICD10:C43.2|OMIM:613972|OMIM:155600|ICD10:C43.1|ICD10:C43.8|NCIT:C8498 owl:Class GO:0002684 biolink:NamedThing positive regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. tmpte7i6ely_mondo_relaxed.owl stimulation of immune system process|activation of immune system process|upregulation of immune system process|up-regulation of immune system process|up regulation of immune system process owl:Class NCBITaxon:6329 biolink:NamedThing Trichinellida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:6331|NCBITaxon:36085 ncbi_taxonomy owl:Class GO:0002796 biolink:NamedThing positive regulation of antimicrobial peptide secretion Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. tmpte7i6ely_mondo_relaxed.owl up regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up-regulation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion owl:Class GO:0019209 biolink:NamedThing kinase activator activity Binds to and increases the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017467 biolink:NamedThing tibio-fibular synostosis Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. tmpte7i6ely_mondo_relaxed.owl Tibio-fibular fusion ICD10:Q74.2|Orphanet:295028|SCTID:737581000 owl:Class MONDO:0017429 biolink:NamedThing joint formation defects tmpte7i6ely_mondo_relaxed.owl Orphanet:294949 owl:Class GO:0009132 biolink:NamedThing nucleoside diphosphate metabolic process The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl nucleoside diphosphate metabolism owl:Class GO:0006753 biolink:NamedThing nucleoside phosphate metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. tmpte7i6ely_mondo_relaxed.owl nucleoside phosphate metabolism owl:Class GO:1904227 biolink:NamedThing negative regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpte7i6ely_mondo_relaxed.owl downregulation of glycogen synthase activity, transferring glucose-1-phosphate|down regulation of glycogen synthase activity, transferring glucose-1-phosphate|inhibition of glycogen synthase activity, transferring glucose-1-phosphate|down-regulation of glycogen synthase activity, transferring glucose-1-phosphate owl:Class MONDO:0008898 biolink:NamedThing camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl camptodactyly syndrome Guadalajara type 1|camptodactyly syndrome, Guadalajara, type I|FTSS|faciothoracoskeletal syndrome|GCS 1|camptodactyly syndrome, Guadalajara, type 1|GCS1 ICD10:Q87.1|UMLS:C1859359|OMIM:211910|GARD:0001067|Orphanet:1327|SCTID:720602007|MESH:C537970 https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1 owl:Class MONDO:0011197 biolink:NamedThing hereditary thermosensitive neuropathy Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary thermosensitive SCTID:715645004|Orphanet:84093|OMIM:602107|ICD10:G60.0|UMLS:C1865856|MESH:C566575 owl:Class MONDO:0015359 biolink:NamedThing autosomal dominant hereditary demyelinating motor and sensory neuropathy tmpte7i6ely_mondo_relaxed.owl AD demyelinating HMSN UMLS:CN228926|ICD10:G60.0|Orphanet:140453 owl:Class GO:0051058 biolink:NamedThing negative regulation of small GTPase mediated signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction. tmpte7i6ely_mondo_relaxed.owl down regulation of small GTPase mediated signal transduction|negative regulation of small GTPase-mediated signal transduction|down-regulation of small GTPase mediated signal transduction|downregulation of small GTPase mediated signal transduction|inhibition of small GTPase mediated signal transduction owl:Class HGNC:21022 biolink:NamedThing AARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012137 biolink:NamedThing Carney complex - trismus - pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). tmpte7i6ely_mondo_relaxed.owl Carney complex variant|CARNEY complex variant ICD10:Q68.8|OMIM:608837|Orphanet:319340 owl:Class MONDO:0016432 biolink:NamedThing heart-hand syndrome Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. tmpte7i6ely_mondo_relaxed.owl atriodigital dysplasia Orphanet:228184|UMLS:C0265264|UMLS:CN201390|ICD10:Q87.2 owl:Class MONDO:0003414 biolink:NamedThing skin pilomatrix carcinoma A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites. tmpte7i6ely_mondo_relaxed.owl Pilomatrical carcinoma|Trichomatrical carcinoma|invasive pilomatrixoma|pilomatrix carcinoma|pilomatrix carcinoma of skin|calcifying epitheliocarcinoma|pilomatrix skin carcinoma|malignant pilomatricoma|pilomatricoma, malignant|pilomatrix carcinoma of the skin|matrical carcinoma|calcified epithelial carcinoma of Malherbe NCIT:C4114|DOID:5376|ICDO:8110/3|ICD10:C44.3|UMLS:C0585475|SCTID:307610008|Orphanet:499182|ICD10:C44.4 owl:Class MONDO:0006973 biolink:NamedThing skin appendage carcinoma A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma. tmpte7i6ely_mondo_relaxed.owl cutaneous appendage carcinoma|carcinoma of adnexa|skin adnexal carcinoma|carcinoma of skin appendage|skin appendage carcinoma|carcinoma, adnexal, malignant|carcinoma of cutaneous appendage|adnexal carcinoma EFO:1001183|MESH:D018280|NCIT:C3775|ONCOTREE:SKAC|MedDRA:10040798|ICDO:8390/3|UMLS:C0206697 owl:Class MONDO:0007924 biolink:NamedThing Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. tmpte7i6ely_mondo_relaxed.owl BRRS|Bannayan-Zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|Myhre-Riley-Smith syndrome|RILEY-SMITH syndrome|macrocephaly pseudopapilledema and multiple hemangiomas|Bannayan-Riley-Ruvalcaba syndrome|macrocephaly multiple lipomas and hemangiomata|Ruvalcaba-MYHRE-SMITH syndrome|Bannayan syndrome|BZS|macrocephaly, multiple lipomas, and hemangiomata|RMSS|macrocephaly with multiple lipomas and hemangiomas|Ruvalcaba -Myhre-Smith syndrome|Bannayan-RILEY-Ruvalcaba syndrome|Riley-Smith syndrome|Ruvalcaba-Myhre-Smith syndrome SCTID:21984008|DOID:0050657|ICD9:759.6|GARD:0005887|Orphanet:109|NCIT:C3939|OMIM:153480|UMLS:C0265326|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome owl:Class MONDO:0009711 biolink:NamedThing congenital fiber-type disproportion myopathy A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. tmpte7i6ely_mondo_relaxed.owl myopathy, congenital with fiber-type disproportion|congenital myopathy with fiber type disproportion|CFTDM|myopathy, congenital, with fiber-type disproportion|CFTD|fiber-type disproportion myopathy, congenital|congenital fiber-type disproportion|congenital fiber type disproportion|congenital myopathy with fibre type disproportion GARD:0006161|Orphanet:2020|DOID:0080102|OMIM:255310|ICD10:G71.2|OMIM:300580|NCIT:C120046|UMLS:C0546264 owl:Class NCBITaxon:53466 biolink:NamedThing Mesocestoididae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6201 biolink:NamedThing Cyclophyllidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017019 biolink:NamedThing interstitial lung disease specific to infancy tmpte7i6ely_mondo_relaxed.owl ILD specific to infancy UMLS:CN202332|Orphanet:264694 owl:Class CHEBI:50910 biolink:NamedThing neurotoxin A poison that interferes with the functions of the nervous system. tmpte7i6ely_mondo_relaxed.owl agente neurotoxico|neurotoxic agent|nerve poison|nerve poisons|neurotoxic agents|neurotoxins|neurotoxicant owl:Class CHEBI:64909 biolink:NamedThing poison Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. tmpte7i6ely_mondo_relaxed.owl poisonous agent|poisonous substances|poisonous substance|toxic substances|poisonous agents|toxic agents|toxic substance|poisons|toxic agent owl:Class MONDO:0011985 biolink:NamedThing hyper-IgM syndrome type 4 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. tmpte7i6ely_mondo_relaxed.owl hyper-IgM syndrome 4|immunodeficiency with hyper IgM type 4|HIGM4|hyper-IgM syndrome type 4|immunodeficiency with hyper-IgM, type 4|immunodeficiency with hyper-IgM type 4|hyper IgM syndrome 4 ICD10:D80.5|MESH:C564277|Orphanet:101091|UMLS:C1842413|DOID:0060760|GARD:0010580|Orphanet:183666|OMIM:608184 https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 owl:Class MONDO:0015976 biolink:NamedThing hyper-IgM syndrome without susceptibility to opportunistic infections tmpte7i6ely_mondo_relaxed.owl HIGM without susceptibility to opportunistic infections ICD10:D80.5|OMIM:605258|UMLS:CN200573|OMIM:608106|Orphanet:183666|OMIM:608184 owl:Class MONDO:0010437 biolink:NamedThing severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 6|mitochondrial encephalomyopathy due to COXPD6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|combined oxidative phosphorylation deficiency 6|COXPD6|encephalomyopathy, mitochondrial, X-linked OMIM:300816|UMLS:C4302745|SCTID:722212004|Orphanet:238329|ICD10:G31.8|UMLS:C3151753|DOID:0111502 owl:Class MONDO:0000553 biolink:NamedThing uterine corpus endometrial carcinoma A endometrial carcinoma (disease) that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl body of uterus endometrial carcinoma (disease)|endometrial carcinoma (disease) of body of uterus DOID:0050939 owl:Class MONDO:0006003 biolink:NamedThing uterine corpus cancer A malignant neoplasm involving the body of uterus. tmpte7i6ely_mondo_relaxed.owl cancer of body of uterus|endometrial cancer|malignant body of uterus neoplasm|uterine (including endometrial) cancer|malignant neoplasm of body of uterus|body of uterus cancer|uterine corpus cancer|cancer of the corpus uteri|corpus uteri cancer SCTID:371972005|ICD9:182|DOID:9460|NCIT:C61574|EFO:0007532|ICD10:C54.9|ICD10:C54 Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. owl:Class MONDO:0017173 biolink:NamedThing non-syndromic male infertility due to sperm motility disorder Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. tmpte7i6ely_mondo_relaxed.owl non-syndromic male infertility due asthenozoospermia|nonsyndromic male infertility due to sperm motility disorder|isolated male infertility due to sperm motility disorder Orphanet:276234|OMIM:612997|OMIM:614822|ICD10:N46|UMLS:CN202602|OMIM:606766 owl:Class HP:0000830 biolink:NamedThing Anterior hypopituitarism A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025821 human_phenotype owl:Class HP:0040075 biolink:NamedThing Hypopituitarism tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:74728003|UMLS:C0020635|MSH:D007018 HPO:skoehler human_phenotype owl:Class MONDO:0002894 biolink:NamedThing spinal chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. tmpte7i6ely_mondo_relaxed.owl chordoma of spine|chordoma of spinal column|spinal chordoma|spinal Chordomas|spinal column chordoma|chordoma of the spinal column UMLS:C1859101|EFO:1000543|DOID:4153|NCIT:C5156 owl:Class NCBITaxon:85007 biolink:NamedThing Corynebacteriales tmpte7i6ely_mondo_relaxed.owl Mycobacteriales|Corynebacterineae PMID:31157615|PMID:30186281|GC_ID:11|PMID:19244447|PMID:1736962|PMID:11837321 NCBITaxon:1761 ncbi_taxonomy owl:Class NCBITaxon:1760 biolink:NamedThing Actinomycetia tmpte7i6ely_mondo_relaxed.owl Actinobacteria|high GC Gram+|High GC gram-positive bacteria|Actinomycetes|high G+C Gram-positive bacteria PMID:19244447|PMID:11155976|PMID:30186281|PMID:11321122|PMID:28840812|PMID:10028260|GC_ID:11 NCBITaxon:85003 ncbi_taxonomy owl:Class MONDO:0014233 biolink:NamedThing early-onset Parkinson disease 20 Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene. tmpte7i6ely_mondo_relaxed.owl Parkinson disease caused by mutation in SYNJ1|PARK20|early-onset Parkinson disease type 20|early-onset Parkinson's disease 20|Parkinson disease 20, early-onset|SYNJ1 Parkinson disease Orphanet:391411|DOID:0060898|OMIM:615530|UMLS:C3809824 owl:Class CL:0011005 biolink:NamedThing GABAergic interneuron An interneuron that uses GABA as a vesicular neurotransmitter. These interneurons are inhibitory tmpte7i6ely_mondo_relaxed.owl GABAergic inhibitory interneuron The formal and textual definitions of this term will need to be altered if evidence for non-inhibitory GABA-ergic neurons emerges. owl:Class CL:0000498 biolink:NamedThing inhibitory interneuron An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS). tmpte7i6ely_mondo_relaxed.owl FMA:84776 cell owl:Class MONDO:0013988 biolink:NamedThing congenital heart defects, multiple types, 3 tmpte7i6ely_mondo_relaxed.owl congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|congenital heart defects, multiple types, 3|CHTD3 OMIM:614954|UMLS:C3554194 owl:Class MONDO:0014301 biolink:NamedThing dowling-degos disease 3 tmpte7i6ely_mondo_relaxed.owl Dowling-Degos disease 3|DDD3 UMLS:C3810286|OMIM:615674|Orphanet:79145 owl:Class MONDO:0008371 biolink:NamedThing Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. tmpte7i6ely_mondo_relaxed.owl Dowling-Degos disease type 1|Dowling-Degos disease 1|reticular pigment anomaly of flexures|Dowling-Degos Kitamura disease|DDD1|dark dot disease Orphanet:79145|ICD10:L81.8|DOID:0060256|MESH:C562924|OMIM:179850|OMIM:615674|OMIM:615696|GARD:0009775|OMIM:615327|SCTID:239133004|MedDRA:10068651 owl:Class MONDO:0014564 biolink:NamedThing congenital bile acid synthesis defect 5 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. tmpte7i6ely_mondo_relaxed.owl congenital bile acid synthesis defect type 5|congenital bile acid synthesis defect 5|ABCD3 congenital bile acid synthesis defect|CBAS5|bile acid synthesis defect, congenital, type 5|bile acid synthesis defect, congenital, 5|congenital bile acid synthesis defect caused by mutation in ABCD3 DOID:0111066|OMIM:616278 owl:Class MONDO:0100372 biolink:NamedThing disorder of peroxisomal transporter Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport. tmpte7i6ely_mondo_relaxed.owl disorder of peroxisomal transporter defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0062013 biolink:NamedThing positive regulation of small molecule metabolic process Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of small molecule metabolism owl:Class CL:0008017 biolink:NamedThing adult skeletal muscle myoblast A skeletal muscle myoblast that is part of a skeletal mucle. These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers. tmpte7i6ely_mondo_relaxed.owl myogenic precursor cell The vast majority of these cells develop from skeletal muscle satellite cells, although there are some reports of other origins. cell owl:Class HGNC:17820 biolink:NamedThing NT5C3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006054 biolink:NamedThing reproductive system neoplasm A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. tmpte7i6ely_mondo_relaxed.owl reproductive system neoplasm (disease)|reproductive system neoplasm|tumor of reproductive system|neoplasm of reproductive system|reproductive neoplasm|neoplasm of the reproductive system|reproductive tumor|tumor of the reproductive system|reproductive system tumor NCIT:C3674|EFO:1000051|UMLS:C0178830 owl:Class HP:0010280 biolink:NamedThing Stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. tmpte7i6ely_mondo_relaxed.owl Gingivostomatitis|Inflammation of the mouth SNOMEDCT_US:61170000|SNOMEDCT_US:20607006|UMLS:C0038362|MSH:D013280|UMLS:C0149704 peter 2009-07-12T09:48:56Z human_phenotype owl:Class HP:0011830 biolink:NamedThing Abnormal oral mucosa morphology Abnormality of the oral mucosa. tmpte7i6ely_mondo_relaxed.owl Abnormality of oral mucosa|Abnormality of lining of mouth|Abnormality of oral mucous membrane|Abnormality of mucosa of mouth UMLS:C4023170 peter 2012-05-01T10:43:40Z human_phenotype owl:Class MONDO:0020734 biolink:NamedThing erythrocyte AMP deaminase deficiency tmpte7i6ely_mondo_relaxed.owl erythrocyte AMP deaminase deficiency 2022-04-01 Orphanet:45|UMLS:C2752073|OMIM:612874 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0013028 biolink:NamedThing adenosine monophosphate deaminase deficiency Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. tmpte7i6ely_mondo_relaxed.owl AMP deaminase deficiency|myoadenylate deaminase deficiency OMIM:615511|Orphanet:45|ICD9:277.2|SCTID:9105005|OMIM:612874|ICD10:G71.3|MESH:C538234 owl:Class MONDO:0001126 biolink:NamedThing gastric ulcer An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. tmpte7i6ely_mondo_relaxed.owl chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer without hemorrhage, without perforation and without obstruction|chronic gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with perforation, with obstruction|acute gastric ulcer with hemorrhage and obstruction|acute gastric ulcer with hemorrhage and perforation, with obstruction|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer without hemorrhage and without perforation|peptic ulcer disease of stomach|stomach peptic ulcer disease|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|acute gastric ulcer with hemorrhage and with perforation but without obstruction|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastric ulcer with haemorrhage and perforation|gastric ulcer|acute gastric ulcer with perforation|gastric ulcer (disease)|acute gastric ulcer with perforation and obstruction|acute gastric ulcer with hemorrhage and perforation|acute gastric ulcer with hemorrhage, with obstruction|bleeding acute gastric ulcer gastric ulcer (disease) HP:0002592|DOID:10808|ICD9:531|UMLS:C0038358|SCTID:397825006|MESH:D013276|NCIT:C3388|ICD10:K25 owl:Class HP:0032892 biolink:NamedThing Infection-related seizure Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. tmpte7i6ely_mondo_relaxed.owl This includes seizures in the context of febrile or afebrile infection. peter human_phenotype owl:Class OBO:CHR_9606-chr14 biolink:NamedThing chromosome 14 (Human) tmpte7i6ely_mondo_relaxed.owl 14 107043718 0 hg38 owl:Class MONDO:0043468 biolink:NamedThing acne keloid A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent. tmpte7i6ely_mondo_relaxed.owl folliculitis Keloidalis nuchae|lichen Keloidalis nuchae|keloidal folliculitis|keloid acne, nuchal|folliculitis Keloidalis|acne, keloidal|dermatitis papillaris Capillitius|Acnes, nuchal keloid|Keloidalis nuchae, folliculitis|acne keloids|Capillitius, dermatitis papillaris|acne Keloidalis|keloidal acne|acne keloid|papillaris Capillitii, dermatitis|acne, nuchal keloid|keloid, acne|nuchae, lichen Keloidalis|Capillitii, dermatitis papillaris|dermatitis papillaris Capillitii|nuchal keloid acne|Keloidalis nuchae, lichen|nuchal keloid Acnes|keloidal Acnes|keloid Acnes, nuchal|nuchae, folliculitis Keloidalis|papillaris Capillitius, dermatitis|keloids, acne UMLS:C0001145|EFO:1001256|NCIT:C34346|MESH:D000153|SCTID:238746008 owl:Class MONDO:0005348 biolink:NamedThing keloid An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. tmpte7i6ely_mondo_relaxed.owl ICD9:701.4|MESH:D007627|EFO:0004212|SCTID:33659008|NCIT:C3145 owl:Class MONDO:0019576 biolink:NamedThing telangiectasia macularis eruptiva perstans tmpte7i6ely_mondo_relaxed.owl SCTID:8214000|ICD10:Q82.2|Orphanet:90389|UMLS:C0263402|MedDRA:10043192|ICD9:448.9 owl:Class MONDO:0019316 biolink:NamedThing maculopapular cutaneous mastocytosis Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. tmpte7i6ely_mondo_relaxed.owl Paucicellular mastocytosis|telangiectasia macularis eruptive perstans|urticaria pigmentosa/maculopapular cutaneous mastocytosis|telangiectatic cutaneous mastocytosis|urticaria pigmentosa|UP/MPCM Orphanet:79457|NCIT:C3433|ICDO:9740/1|OMIM:154800|DOID:12309|SCTID:78745000|MedDRA:10046752|GARD:0013079|ICD9:708.8|UMLS:C0042111|ICD10:Q82.2 owl:Class GO:0099182 biolink:NamedThing presynaptic intermediate filament cytoskeleton The intermediate filament cytoskeleton that is part of a presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045111 biolink:NamedThing intermediate filament cytoskeleton Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046916 biolink:NamedThing cellular transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006875 biolink:NamedThing cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. tmpte7i6ely_mondo_relaxed.owl cellular heavy metal ion homeostasis owl:Class GO:0071696 biolink:NamedThing ectodermal placode development The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005430 biolink:NamedThing early onset hypertension A form of hypertension with early onset relative to normal range for a given population. tmpte7i6ely_mondo_relaxed.owl EFO:0004772 owl:Class HGNC:18053 biolink:NamedThing PKD1L1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007807 biolink:NamedThing connecting stalk vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002049 biolink:NamedThing vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000007 biolink:NamedThing articular chondrocyte of knee joint Chondrocyte forming the hyaline cartilage found in the knee joint. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T14:40:11Z cell owl:Class CL:1001607 biolink:NamedThing articular chondrocyte Chondrocyte forming the hyaline cartilage found in joints. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0056 owl:Class NCBITaxon:138951 biolink:NamedThing Enterovirus D tmpte7i6ely_mondo_relaxed.owl Enterovirus EV-D|Human enterovirus D GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016924 biolink:NamedThing partial duplication of chromosome 4 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 4|partial duplication of chromosome type 4 Orphanet:262206|SCTID:726342002 owl:Class MONDO:0700011 biolink:NamedThing chromosome 4 disorder Chromosomal disorder in which chromosome 4 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0014748 biolink:NamedThing progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, faden-Alkuraya type|SEMDFA|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, faden-ALKURAYA type|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis Orphanet:457395|OMIM:616723|UMLS:C4225232 owl:Class UBERON:0015030 biolink:NamedThing pedal digit phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015022 biolink:NamedThing hindlimb endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005233 biolink:NamedThing medial-nasal process ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022759 biolink:NamedThing trisomy 22 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). tmpte7i6ely_mondo_relaxed.owl chromosome 22 trisomy MESH:C536799|SCTID:205655003|UMLS:C0265490|GARD:0005335 https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 owl:Class MONDO:0010241 biolink:NamedThing congenital stationary night blindness 2A Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene. tmpte7i6ely_mondo_relaxed.owl CSNB2A|congenital stationary night blindness 2A X-linked|CSNB, incomplete, X-linked|night blindness, congenital stationary, type 2|CACNA1F congenital stationary night blindness|congenital stationary night blindness caused by mutation in CACNA1F|night blindness, congenital stationary, type 2A|congenital stationary night blindness type 2A DOID:0110871|UMLS:C1848172|OMIM:300071 owl:Class MONDO:0044749 biolink:NamedThing X-linked congenital stationary night blindness X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. tmpte7i6ely_mondo_relaxed.owl X-linked CSNB|XLCSNB|congenital stationary night blindness, X-linked GARD:0003995|UMLS:CN043584|OMIM:310500 owl:Class MONDO:0018017 biolink:NamedThing goblet cell carcinoma Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. tmpte7i6ely_mondo_relaxed.owl goblet cell tumor|goblet cell carcinoid|mucinous carcinoid|goblet cell carcinoma|goblet cell adenocarcinoid|GCC|carcinoma of goblet cell ICD10:C18.1|GARD:0010414|Orphanet:329984 owl:Class MONDO:0015066 biolink:NamedThing neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. tmpte7i6ely_mondo_relaxed.owl appendix well differentiated endocrine tumor|appendiceal neuroendocrine tumor|appendiceal NEN|well-differentiated neuroendocrine tumor of the appendix|appendix well differentiated endocrine tumor/carcinoma|appendix neuroendocrine tumor|appendix NET|NEN of appendix|appendiceal neuroendocrine neoplasm|neuroendocrine neoplasm of appendix ICD10:D37.3|ICD10:C18.1|Orphanet:100079|SCTID:725167001|ONCOTREE:AWDNET|NCIT:C96422 owl:Class MONDO:0060578 biolink:NamedThing neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures tmpte7i6ely_mondo_relaxed.owl NEMMLAS|neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Orphanet:572798|UMLS:C4540192|OMIM:617710 owl:Class ENVO:00002872 biolink:NamedThing bagasse The biomass remaining after sugarcane stalks are crushed to extract their juice. tmpte7i6ely_mondo_relaxed.owl sugarcane bagasse owl:Class ENVO:00002264 biolink:NamedThing waste material A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030534 biolink:NamedThing hypogonadotropic hypogonadism 26 with or without anosmia tmpte7i6ely_mondo_relaxed.owl HH26 OMIM:619718 owl:Class MONDO:0018555 biolink:NamedThing hypogonadotropic hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism with or without anosmia|normosmic congenital hypogonadotropic hypogonadism|low gonadotropins (secondary hypogonadism)|hypogonadism, hypogonadotropic|isolated congenital gonadotropin deficiency|gonadotropic deficiency|central hypogonadism|Normosmic idiopathic hypogonadotropic hypogonadism|nIHH|isolated hypogonadotropic hypogonadism|hypogonadotropic hypogonadism|hypogonadotropism|secondary hypogonadism|congenital idiopathic hypogonadotropic hypogonadism NCIT:C113347|OMIM:614837|OMIM:614842|OMIM:614840|OMIM:244200|OMIM:147950|OMIM:615269|OMIM:610628|OMIM:614858|OMIM:614880|OMIM:614839|Orphanet:478|HP:0000044|OMIM:308700|ICD9:253.4|SCTID:33927004|DOID:0090070|OMIM:612702|OMIM:146110|OMIM:614841|OMIM:615270|ICD10:E23.0|OMIMPS:147950|UMLS:CN235466|OMIM:612370|DOID:7455|Orphanet:432|OMIM:615266|OMIM:614838 owl:Class MONDO:0009295 biolink:NamedThing glycogen storage disease VII Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. tmpte7i6ely_mondo_relaxed.owl Tarui disease|phosphofructokinase deficiency|GSD type 7|PFKM glycogen storage disease|glycogenosis due to muscle phosphofructokinase deficiency|phosphofructokinase myopathy|glycogen storage disease 7|glycogen storage disease type VII|GSD7|glycogen storage disease due to muscle phosphofructokinase deficiency|GSD due to muscle phosphofructokinase deficiency|glycogen storage disease, type VII|glycogen storage disease VII|muscle phosphofructokinase deficiency|GSDVII|glycogen storage disease caused by mutation in PFKM|glycogenosis type VII|glycogen storage disease type 7|Pfkm deficiency|GSD type VII|glycogenosis type 7|GSD 7 ICD10:E74.09|OMIM:232800|DOID:11721|MESH:D006014|GARD:0005686|SCTID:89597008|Orphanet:371|ICD10:E74.0|MedDRA:10053241|UMLS:C0017926|NCIT:C118437 owl:Class MONDO:0016118 biolink:NamedThing muscular glycogenosis tmpte7i6ely_mondo_relaxed.owl glycogen storage myopathy ICD10:E74.0|Orphanet:206959 owl:Class MONDO:0043106 biolink:NamedThing ichthyosis linearis circumflexa tmpte7i6ely_mondo_relaxed.owl ichthyosis linearis circumflexa SCTID:54336006|GARD:0002967 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0017263 biolink:NamedThing inherited ichthyosis syndromic form A inherited ichthyosis that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with inherited ichthyosis|syndromic inherited ichthyosis Orphanet:281085 owl:Class MONDO:0021765 biolink:NamedThing radiculitis An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. tmpte7i6ely_mondo_relaxed.owl Radiculitis|radiculitis|Radiculitides|Nerve Root Inflammation|Inflammation, Nerve Root|Nerve Root Inflammations SCTID:82473003|UMLS:C0034544|ICD9:729.2|NCIT:C78581 owl:Class MONDO:0009925 biolink:NamedThing autosomal recessive inherited pseudoxanthoma elasticum An autosomal recessive form of PXE. tmpte7i6ely_mondo_relaxed.owl pseudoxanthoma elasticum, modifier of severity of|PXE|AR inherited pseudoxanthoma elasticum|Gronblad-Strandberg syndrome|pseudoxanthoma elasticum|Gronblad Strandberg syndrome|Gronblad-Strandberg-Touraine syndrome|PXE, modifier of severity of DOID:2738|ICD10:Q82.8|MedDRA:10037150|SCTID:402782006|UMLS:C0033847|SCTID:72744008|SCTID:252246005|MESH:D011561|OMIM:264800|OMIM:177850|Orphanet:758|NCIT:C85036|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0016340 biolink:NamedThing familial restrictive cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary restrictive cardiomyopathy Orphanet:217635|OMIMPS:115210|SCTID:233878008|ICD9:425.4 owl:Class GO:0001961 biolink:NamedThing positive regulation of cytokine-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. tmpte7i6ely_mondo_relaxed.owl stimulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|positive regulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway|up-regulation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signalling pathway|up regulation of cytokine mediated signaling pathway owl:Class MONDO:0007892 biolink:NamedThing Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. tmpte7i6ely_mondo_relaxed.owl LMHD|Lenz-Majewski hyperostotic dysplasia|Lenz Majewski hyperostotic dwarfism|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|Lenz-Majewski syndrome|hyperostotic dwarfism Lenz-Majewski type|Lenz-Majewski hyperostotic dwarfism|multiple congenital anomalies, mental retardation and progressive skeletal sclerosis Orphanet:2658|GARD:0003223|DOID:0111507|MESH:C537115|ICD10:Q87.1|OMIM:151050 https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism owl:Class MONDO:0010644 biolink:NamedThing proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis tmpte7i6ely_mondo_relaxed.owl proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Orphanet:1652|UMLS:C1839874|Orphanet:93622|OMIM:308990 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations owl:Class MONDO:0003634 biolink:NamedThing proteinuria The presence of abnormal amounts of protein in the urine. tmpte7i6ely_mondo_relaxed.owl ICD9:791.0|NCIT:C38012|ICD10:R80.9|ICD10:R80|DOID:576|MESH:D011507 Consider obsoleting / use HPO owl:Class NCBITaxon:73421 biolink:NamedThing Dicrocoeliidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1776223 biolink:NamedThing Gorgoderoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012247 biolink:NamedThing spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 27|cerebellar ataxia, autosomal dominant, Fgf14-related|cerebellar ataxia autosomal dominant FGF14-related|SCA27|spinocerebellar ataxia type 27 UMLS:C1836383|UMLS:C4304846|Orphanet:98764|SCTID:719252002|ICD10:G11.8|GARD:0009963|MESH:C537204|OMIM:609307|DOID:0050976 owl:Class MONDO:0019792 biolink:NamedThing autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. tmpte7i6ely_mondo_relaxed.owl autosomal dominant cerebellar ataxia type 1|ADCAI|cerebellar plus syndrome|ADCA1 ICD10:G11.8|Orphanet:94145|UMLS:CN206744 owl:Class UBERON:0007237 biolink:NamedThing 1st arch mandibular component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001441 biolink:NamedThing hindlimb skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007273 biolink:NamedThing pelvic appendage skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024912 biolink:NamedThing cat disease Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. tmpte7i6ely_mondo_relaxed.owl disease, Cat|Feline disease|cat disease|diseases, Feline|Feline diseases|disease, Feline|diseases, Cat UMLS:C0007350|MESH:D002371 owl:Class MONDO:0018680 biolink:NamedThing cutaneous pseudolymphoma A pseudolymphoma of the skin. tmpte7i6ely_mondo_relaxed.owl lymphocytoma cutis|pseudolymphoma of Spiegler|lymphadenosis Benigna cutis ICD10:L98.6|NCIT:C62776|UMLS:C0311220|SCTID:128862000|Orphanet:451607 owl:Class MONDO:0017287 biolink:NamedThing IgG4-related disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. tmpte7i6ely_mondo_relaxed.owl IgG4-related autoimmune disease|multifocal idiopathic fibrosclerosis|IgG4-RD|IgG4-related systemic disease|systemic IgG4-related plasmacytic syndrome|IgG4-related systemic sclerosing disease|hyper-IgG4 disease|multifocal fibrosclerosis|IgG4-positive multiorgan lymphoproliferative syndrome|Immunoglobulin G4-related sclerosing disease|IgG4-associated disease|IgG4-related sclerosing disease|IgG4-syndrome|systemic IgG4-related sclerosing syndrome MedDRA:10071569|DOID:0080356|Orphanet:596448|Orphanet:284264|GARD:0012521|NCIT:C95992|UMLS:C3203653 https://github.com/monarch-initiative/mondo/issues/3539 owl:Class MONDO:0007369 biolink:NamedThing hereditary coproporphyria Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. tmpte7i6ely_mondo_relaxed.owl coproporphyrinogen oxidase deficiency|coproporphyria hereditary|porphyria hepatica II|coproporphyria|coproporphyria, hereditary|Cpo deficiency|hereditary coproporphyria|Cpox deficiency|HCP|Harderoporphyria|porphyria hepatica coproporphyria|hereditary coproporphyria porphyria|CPRO deficiency|Cpx deficiency ICD10:E80.29|OMIM:121300|MedDRA:10019866|SCTID:7425008|GARD:0006619|Orphanet:79273|DOID:13269|MESH:D046349|NCIT:C84759|UMLS:C0162531|ICD10:E80.2 https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria owl:Class MONDO:0019142 biolink:NamedThing inherited porphyria Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. tmpte7i6ely_mondo_relaxed.owl Porphyrinopathy|disorder of porphyrin and hem metabolism|disorder of porphyrin and heme metabolism|disorder of porphyrin metabolism|porphyria|Hematoporphyria|hereditary porphyria MESH:D011164|UMLS:C0032708|Orphanet:738|DOID:13268|ICD10:E80.2|NCIT:C97096|GARD:0010353|ICD9:277.1|MedDRA:10061356|ICD10:E80.0|ICD10:E80.1|SCTID:371628009|ICD10:E80.20|SCTID:29094004|MedDRA:10036181 Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic https://rarediseases.info.nih.gov/diseases/10353/porphyria owl:Class MONDO:0002078 biolink:NamedThing heart septal defect A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. tmpte7i6ely_mondo_relaxed.owl holes in the heart|congenital septal defect|Cardiac septal defects|congenital septal defect of heart|septal defect SCTID:253273004|ICD9:745.9|UMLS:C0018816|MESH:D006343|ICD10:Q21.9|ICD10:Q21|DOID:1681|NCIT:C84482|ICD9:745.8 owl:Class GO:0043271 biolink:NamedThing negative regulation of ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down regulation of ion transport|inhibition of ion transport|downregulation of ion transport|down-regulation of ion transport owl:Class MONDO:0002410 biolink:NamedThing pyeloureteritis cystica tmpte7i6ely_mondo_relaxed.owl DOID:2743|ICD9:590.3|ICD10:N28.85|UMLS:C0156254|SCTID:37779008 owl:Class MONDO:0006938 biolink:NamedThing pyelitis Inflammation of the renal pelvis. tmpte7i6ely_mondo_relaxed.owl renal pelvis inflammation|inflammation of renal pelvis MESH:D011702|ICD10:N12|DOID:2744|EFO:1001140|MedDRA:10037584|NCIT:C34964|UMLS:C0034183|SCTID:27174002 owl:Class UBERON:0004906 biolink:NamedThing ectodermal part of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010810 biolink:NamedThing vitamin D hydroxylation-deficient rickets, type 1B An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. tmpte7i6ely_mondo_relaxed.owl CYP2R1 vitamin D-dependent rickets, type 1|Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1|vitamin D 25-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets, type 1B|vitamin D hydroxylation-deficient rickets type 1b|25-Hydroxyvitamin D3 deficiency, selective|Vitam D hydroxylation-deficient rickets type 1b|vitamin D-dependent rickets, type 1B|VDDR1B OMIM:600081|UMLS:C1838657|Orphanet:289157|MESH:C564005|NCIT:C131074 owl:Class MONDO:0045012 biolink:NamedThing steroid metabolism disease A disease that has its basis in the disruption of steroid metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of steroid metabolic process|disorder of steroid metabolism|steroid metabolism disease|steroid metabolic process disease SCTID:28710006|UMLS:C0268283 owl:Class HGNC:4933 biolink:NamedThing HLA-C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015031 biolink:NamedThing extraneural perineurioma Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. tmpte7i6ely_mondo_relaxed.owl soft tissue perineurioma SCTID:768926005|UMLS:CN197321|Orphanet:100002 owl:Class MONDO:0019404 biolink:NamedThing perineurioma A usually benign perineurioma not associated with a nerve, arising from the soft tissues. tmpte7i6ely_mondo_relaxed.owl soft tissue perineurioma|perineurioma UMLS:C0751691|SCTID:404036006|ICDO:9571/0|MESH:D018317|Orphanet:85102|DOID:4697|GARD:0012698|NCIT:C4973|ICD9:215.9|ICD10:C47.9 https://rarediseases.info.nih.gov/diseases/12698/perineurioma owl:Class MONDO:0007509 biolink:NamedThing ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|ECTD10A|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia hypohidrotic autosomal dominant UMLS:C3888065|Orphanet:238468|OMIM:129490|Orphanet:1810|GARD:0002048|DOID:0111663 owl:Class MONDO:0015884 biolink:NamedThing autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant form of hypohidrotic ectodermal dysplasia. tmpte7i6ely_mondo_relaxed.owl hypohidrotic ectodermal dysplasia, autosomal dominant|AD-HED|autosomal dominant anhidrotic ectodermal dysplasia ICD10:Q82.4|OMIM:614940|OMIM:129490|Orphanet:1810 owl:Class HP:0030824 biolink:NamedThing Mizuo phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. tmpte7i6ely_mondo_relaxed.owl Mizuo-Nakamura phenomenon UMLS:C4280748 human_phenotype owl:Class UBERON:0001017 biolink:NamedThing central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100033 biolink:NamedThing Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. tmpte7i6ely_mondo_relaxed.owl Tic disorder|Tics UMLS:C2169806 Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. doelkens 2010-06-10T12:10:29Z human_phenotype owl:Class HP:0004305 biolink:NamedThing Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. tmpte7i6ely_mondo_relaxed.owl Involuntary movements|Involuntary muscle contractions SNOMEDCT_US:102542000|UMLS:C0235086 peter 2008-02-20T12:18:00Z HP:0007120 human_phenotype owl:Class MONDO:0018544 biolink:NamedThing adrenoleukodystrophy A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. tmpte7i6ely_mondo_relaxed.owl Siemerling-Creutzfeldt disease|adrenoleukodystrophy, X-linked|ABCD1 deficiency|ALD|sudanophilic cerebral sclerosis|adrenoleukodystrophy|encephalitis periaxialis, Schilder's|adrenomyeloneuropathy, adult|encephalitis periaxialis concentrica|X-linked adrenoleukodystrophy|Bronze-Schilder disease|X-linked ALD|diffuse sclerosis|X-ALD|diffuse cerebral sclerosis of Schilder ICD10:E71.3|ICD10:E71.52|MedDRA:10051260|GARD:0005758|ICD10:G37.0|MESH:D000326|OMIM:300100|OMIM:302700|Orphanet:43|NCIT:C61252|ICD9:341.1|ICD10:E71.529|DOID:10588 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0015547 biolink:NamedThing genetic dementia Genetic dementia. tmpte7i6ely_mondo_relaxed.owl genetic dementia Orphanet:158124 owl:Class UBERON:0005234 biolink:NamedThing optic eminence ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020601 biolink:NamedThing mosquito-borne viral encephalitis Viral encephalitis that is transmitted by mosquitos. tmpte7i6ely_mondo_relaxed.owl mosquito-borne viral encephalitis NCIT:C34823 owl:Class MONDO:0020416 biolink:NamedThing Neuhauser anomaly Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections). tmpte7i6ely_mondo_relaxed.owl Orphanet:99078|SCTID:766751007|ICD10:Q25.4 owl:Class GO:1901738 biolink:NamedThing regulation of vitamin A metabolic process Any process that modulates the frequency, rate or extent of vitamin A metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of vitamin A metabolism owl:Class MONDO:0015849 biolink:NamedThing longitudinal vaginal septum tmpte7i6ely_mondo_relaxed.owl ICD10:Q52.1|HP:0008740|Orphanet:180157 owl:Class MONDO:0015848 biolink:NamedThing septate vagina tmpte7i6ely_mondo_relaxed.owl ICD9:752.49|SCTID:47054003|HP:0001153|ICD10:Q52.1|Orphanet:180154 Editor note: consider ceding this and subclasses to HPO owl:Class ECTO:9001694 biolink:NamedThing exposure to antibacterial agent An exposure to antibacterial agent. tmpte7i6ely_mondo_relaxed.owl exposure to antibacterial agent owl:Class MONDO:0004109 biolink:NamedThing epiglottis neoplasm A benign or malignant neoplasm that affects the epiglottis. tmpte7i6ely_mondo_relaxed.owl neoplasm of the Epiglottis|epiglottic neoplasm|neoplasm of epiglottis|epiglottis neoplasm (disease)|tumor of the Epiglottis|epiglottic tumor|neoplasm of Epiglottis|epiglottis tumor|tumor of Epiglottis|Epiglottis tumor|tumor of epiglottis UMLS:C1290353|SCTID:126699008|NCIT:C4933|DOID:7105 MONDO:0021347 owl:Class UBERON:0011775 biolink:NamedThing vagus nerve nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043043 biolink:NamedThing peptide biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. tmpte7i6ely_mondo_relaxed.owl peptide biosynthesis|peptide formation|peptide anabolism|peptide synthesis owl:Class MONDO:0010932 biolink:NamedThing progressive bifocal chorioretinal atrophy Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. tmpte7i6ely_mondo_relaxed.owl PBCRA|CRAPB|Crapb|progressive bifocal chorioretinal atrophy|chorioretinal atrophy, progressive bifocal OMIM:600790|Orphanet:75373|UMLS:C1833321|MESH:C535356|GARD:0010123|SCTID:719266007 https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy owl:Class UBERON:0004471 biolink:NamedThing musculature of pectoral girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003870 biolink:NamedThing childhood brainstem astrocytoma An astrocytoma that arises from the brain stem and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl brain stem astrocytic neoplasm of childhood|childhood brain stem astrocytic neoplasm|childhood brain stem astrocytoma|childhood brainstem astrocytoma|pediatric brain stem astrocytic neoplasm NCIT:C6216|UMLS:C1332950|DOID:6386 owl:Class MONDO:0003869 biolink:NamedThing childhood brain stem glioma An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life. tmpte7i6ely_mondo_relaxed.owl pediatric glioma of the brainstem|childhood brain stem glioma|pediatric brain stem glioma|pediatric brainstem glioma|childhood brainstem glioma|pediatric glioma of the brain stem|childhood glioma of the brainstem|brain stem glioma of childhood|childhood glioma of brain stem|childhood glioma of the brain stem|pediatric glioma of brain stem|pediatric glioma of brainstem|brain stem glioma|childhood glioma of brainstem DOID:6383|UMLS:C0278600|NCIT:C9042|GARD:0009306 https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma owl:Class MONDO:0019656 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis tmpte7i6ely_mondo_relaxed.owl Orphanet:93220|UMLS:CN206529|ICD10:N04.8 owl:Class MONDO:0019401 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. tmpte7i6ely_mondo_relaxed.owl sporadic idiopathic nephrosis Orphanet:84271|ICD10:N04.8|SCTID:717191005|UMLS:C4274017|ICD10:N04.1|OMIM:612551|ICD10:N04.3 owl:Class HGNC:30858 biolink:NamedThing EFTUD2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051924 biolink:NamedThing regulation of calcium ion transport Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl regulation of calcium transport owl:Class GO:0010959 biolink:NamedThing regulation of metal ion transport Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021644 biolink:NamedThing esophageal varices without bleeding tmpte7i6ely_mondo_relaxed.owl esophageal varices without bleeding ICD10:I85.9|ICD10:I85.00|SCTID:14223005|UMLS:C0267092|ICD9:456.1 owl:Class MONDO:0001221 biolink:NamedThing esophageal varices Abnormally dilated veins of the esophagus. tmpte7i6ely_mondo_relaxed.owl esophageal varices with bleeding in disease EC|esophageal varices without mention of bleeding|esophageal varices|esophageal varices in disease classified elsewhere, with bleeding|bleeding esophageal varices|esophagus varicose disease|esophageal varix|bleeding oesophageal varices|varicose disease of esophagus SCTID:28670008|ICD9:456.0|NCIT:C78282|ICD9:456.20|MESH:D004932|GARD:0006384|NCIT:C53506|ICD9:456.2|DOID:112|ICD10:I85.01|ICD10:I85|SCTID:17709002 owl:Class MONDO:0031008 biolink:NamedThing nephrotic syndrome, type 24 tmpte7i6ely_mondo_relaxed.owl NPHS24 OMIM:619263 owl:Class UBERON:0003659 biolink:NamedThing pedal digit muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001498 biolink:NamedThing muscle of pes tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16644 biolink:NamedThing IFITM5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002265 biolink:NamedThing stereotypic movement disorder Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994) tmpte7i6ely_mondo_relaxed.owl stereotyped repetitive movements NOS (finding)|stereotypy habit disorder|stereotyped repetitive movements ICD9:307.3|ICD10:F98.4|DOID:2303|MESH:D019956|SCTID:5507002 owl:Class MONDO:0021439 biolink:NamedThing benign neoplasm of pituitary gland A benign neoplasm that involves the pituitary gland. tmpte7i6ely_mondo_relaxed.owl pituitary gland benign neoplasm|benign neoplasm of pituitary|benign pituitary tumor|benign tumor of pituitary|pituitary neoplasms, benign|benign pituitary gland tumor|benign neoplasm of the pituitary|benign tumor of the pituitary|pituitary tumor, benign|benign pituitary gland neoplasm|benign neoplasm of the pituitary gland|benign tumor of the pituitary gland|benign tumor of pituitary gland|benign pituitary neoplasm ICD10:D35.2|UMLS:C0496901|NCIT:C4782|DOID:60009|SCTID:92296004 owl:Class MONDO:0018614 biolink:NamedThing undetermined early-onset epileptic encephalopathy A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. tmpte7i6ely_mondo_relaxed.owl undetermined EOEE|undetermined early-onset epileptic encephalopathy OMIM:616211|OMIM:616366|OMIM:616346|OMIM:617162|OMIM:617105|OMIM:615905|Orphanet:442835|OMIM:617166|OMIM:614558|ICD10:G40.4|OMIM:615833|OMIM:616339|OMIM:617132|OMIM:617153|OMIM:616409|OMIM:616056|OMIM:615871|OMIM:617106 owl:Class MONDO:0020070 biolink:NamedThing neonatal epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:G40.4|UMLS:CN206974|Orphanet:98257 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class HGNC:12582 biolink:NamedThing UQCRB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009026 biolink:NamedThing Costello syndrome Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. tmpte7i6ely_mondo_relaxed.owl Costello syndrome|myopathy, congenital, with excess of muscle spindles|faciocutaneoskeletal syndrome|FCS syndrome|CSTLO ICD10:Q87.8|ICD9:799.89|MedDRA:10067380|UMLS:C0587248|Orphanet:3071|GARD:0001550|OMIM:218040|NCIT:C84652|SCTID:309776008|MESH:D056685|DOID:0050469 https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome owl:Class UBERON:0001751 biolink:NamedThing dentine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010365 biolink:NamedThing odontoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:46209 biolink:NamedThing L-tyrosinal An amino aldehyde that is L-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde tmpte7i6ely_mondo_relaxed.owl (2S)-2-amino-3-(4-hydroxyphenyl)propanal|L-tyr aldehyde|TYROSINAL|(2S)-2-amino-3-(p-hydroxyphenyl)propanal owl:Class CHEBI:50994 biolink:NamedThing primary amino compound A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group. tmpte7i6ely_mondo_relaxed.owl primary amino compounds owl:Class UBERON:0004709 biolink:NamedThing pelvic appendage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014255 biolink:NamedThing complement factor b deficiency tmpte7i6ely_mondo_relaxed.owl complement factor b deficiency|complement factor B deficiency|CFBD OMIM:615561|UMLS:C3809950 owl:Class MONDO:0015075 biolink:NamedThing thyroid gland carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. tmpte7i6ely_mondo_relaxed.owl thyroid gland cancer|carcinoma of the thyroid|carcinoma of thyroid|thyroid gland carcinoma|thyroid cancer|head and neck cancer, thyroid|thyroid carcinoma|cancer of thyroid|carcinoma of thyroid gland|cancer of the thyroid|carcinoma of the thyroid gland EFO:1000586|HP:0002890|MedDRA:10007476|UMLS:C0549473|DOID:3963|NCIT:C4815|SCTID:448216007|Orphanet:100088 owl:Class GO:0016826 biolink:NamedThing hydrolase activity, acting on acid sulfur-nitrogen bonds Catalysis of the hydrolysis of any acid sulfur-nitrogen bond. tmpte7i6ely_mondo_relaxed.owl hydrolase activity, acting on acid sulphur-nitrogen bonds owl:Class GO:0043269 biolink:NamedThing regulation of ion transport Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009495 biolink:NamedThing Keutel syndrome Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|KEUTEL syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages|pulmonic stenosis brachytelephalangism and calcification of cartilages|KTLS|Keutel syndrome UMLS:C1855607|OMIM:245150|GARD:0008449|MESH:C536167|ICD10:Q87.8|Orphanet:85202|SCTID:724208006 https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome owl:Class MONDO:0012043 biolink:NamedThing Reis-Bucklers corneal dystrophy Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy of Bowman layer type 1|granular corneal dystrophy, type 3|Reis Bucklers corneal dystrophy|geographic corneal dystrophy|RBCD|corneal dystrophy Reis Bucklers type|CDRB|CDB1|anterior limiting membrane dystrophy type 1|Reis-Bucklers corneal dystrophy|Reis-Bücklers corneal dystrophy|corneal dystrophy, REIS-Bucklers type|atypical granular corneal dystrophy|anterior limiting membrane dystrophy type I|granular corneal dystrophy type III|corneal dystrophy of Bowman Layer, type 1|corneal dystrophy of Bowman layer type I|corneal dystrophy geographic|superficial granular corneal dystrophy|corneal dystrophy, geographic|granular corneal dystrophy type 3|Reis Bucklers dystrophy ICD9:371.52|OMIM:608470|DOID:0060453|SCTID:231930000|ICD10:H18.5|GARD:0009276|UMLS:C0339278|MESH:C535476|Orphanet:98961 owl:Class MONDO:0000764 biolink:NamedThing epithelial-stromal TGFBI dystrophy Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy (disease) caused by mutation in TGFBI|TGFBI corneal dystrophy (disease) DOID:0060441 owl:Class MONDO:0001112 biolink:NamedThing bubonic plague A plague in which the bacteria have infected the lymphatic system. tmpte7i6ely_mondo_relaxed.owl black death SCTID:58750007|ICD10:A20.0|MESH:D010930|GARD:0000183|SCTID:50797007|ICD9:020.0|UMLS:C0282312|DOID:10773 https://rarediseases.info.nih.gov/diseases/183/bubonic-plague owl:Class MONDO:0005833 biolink:NamedThing lymphatic system disorder A disease involving the lymphatic part of lymphoid system. tmpte7i6ely_mondo_relaxed.owl swollen glands|lympoid system disease|lymphatic disorder|disorder of lymphatic part of lymphoid system|disease of lymphatic part of lymphoid system|adenopathy|lymphangiopathy|lymphadenopathy|disorder of lymphatic system|disease or disorder of lymphatic part of lymphoid system|disorder of lymph node and lymphatics|disorder of lymphoid system|glands, swollen|disease of lympoid system|lymphatic part of lymphoid system disease or disorder|lymphatic disease|swollen gland|lymphatic part of lymphoid system disease MESH:D008206|UMLS:C0024228|DOID:75|SCTID:362971004|NCIT:C50764|EFO:0007352 Editor note: check alignment to anatomy, consider lymphoid system disease owl:Class MONDO:0025003 biolink:NamedThing goat disease Diseases of the domestic or wild goat of the genus Capra. tmpte7i6ely_mondo_relaxed.owl disease, goat|goat disease|diseases, goat|diseases, caprine|caprine disease|caprine diseases|disease, caprine UMLS:C0018018|MESH:D015511 owl:Class MONDO:0035133 biolink:NamedThing PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:589905 owl:Class MONDO:0006995 biolink:NamedThing tethered spinal cord syndrome A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. tmpte7i6ely_mondo_relaxed.owl tethered cord|spinal cord syndrome DOID:1089|ICD10:Q05.9|EFO:1001210|NCIT:C99080|ICD9:741|ICD9:756.19|SCTID:249491000119100|ICD10:Q05 owl:Class MONDO:0019276 biolink:NamedThing inherited epidermolysis bullosa Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. tmpte7i6ely_mondo_relaxed.owl hereditary epidermolysis bullosa|epidermolysis bullosa hereditaria ICD10:Q81.0|SCTID:402781004|ICD10:Q81.9|Orphanet:79361|ICD10:Q81.2|ICD9:757.39|ICD10:Q81.8|ICD10:Q81.1 owl:Class MONDO:0008689 biolink:NamedThing dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema tmpte7i6ely_mondo_relaxed.owl pseudohyperkalemia Edinburgh|DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema|pseudohyperkalemia, familial, 1, due to Red cell leak|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|xerocytosis, hereditary|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|DHS1|dehydrated hereditary stomatocytosis|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|Desiccytosis, hereditary|Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|DHS Orphanet:3202|OMIM:194380|GARD:0010676 https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema owl:Class GO:0002253 biolink:NamedThing activation of immune response Any process that initiates an immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050778 biolink:NamedThing positive regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpte7i6ely_mondo_relaxed.owl upregulation of immune response|up-regulation of immune response|up regulation of immune response|stimulation of immune response owl:Class MONDO:0010592 biolink:NamedThing focal dermal hypoplasia Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. tmpte7i6ely_mondo_relaxed.owl Fodh|Goltz-Gorlin syndrome|FDH|Goltz syndrome|Goltz Gorlin syndrome|DHOF|focal dermal hypoplasia MESH:D005489|UMLS:C0016395|NCIT:C84715|ICD9:757.39|ICD10:Q82.8|OMIM:305600|SCTID:205573006|Orphanet:2092|GARD:0006457|DOID:2120 owl:Class MONDO:0012287 biolink:NamedThing Stickler syndrome, type I, nonsyndromic ocular tmpte7i6ely_mondo_relaxed.owl Stickler syndrome, type I, predominantly ocular|Stickler syndrome, atypical|Stickler syndrome, type i, nonsyndromic ocular|rhegmatogenous retinal detachment, autosomal dominant UMLS:C1836080|OMIM:609508|Orphanet:209867|Orphanet:90653|UMLS:C1836081|Orphanet:828 Editor note: check this owl:Class MONDO:0007160 biolink:NamedThing Stickler syndrome type 1 tmpte7i6ely_mondo_relaxed.owl Stickler syndrome, type 1|STL1|Stickler syndrome, membranous vitreous type|arthroophthalmopathy, hereditary progressive|Stickler syndrome, vitreous type 1|Stickler syndrome, type I|Stickler syndrome type 1 GARD:0005018|OMIM:609508|OMIM:108300|MESH:C537492|ICD10:Q87.5|Orphanet:90653|Orphanet:828 owl:Class UBERON:0005648 biolink:NamedThing manual digit 5 epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005227 biolink:NamedThing manual digit epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045651 biolink:NamedThing positive regulation of macrophage differentiation Any process that activates or increases the frequency, rate or extent of macrophage differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of macrophage differentiation|upregulation of macrophage differentiation|up-regulation of macrophage differentiation|up regulation of macrophage differentiation|activation of macrophage differentiation owl:Class MONDO:0012275 biolink:NamedThing fetal valproate syndrome Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). tmpte7i6ely_mondo_relaxed.owl valproic acid embryopathy|valproate embryopathy, susceptibility to|fetal valproic acid syndrome|fetal valproate syndrome|susceptibility to valproate embryopathy|FVS MESH:C536525|GARD:0005447|Orphanet:1906|OMIM:609442|MedDRA:10016524|DOID:0060471|ICD9:759.89|SCTID:17231009|ICD10:Q86.8|UMLS:C0236026|NCIT:C98930 https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome owl:Class MONDO:0006541 biolink:NamedThing epidermolysis bullosa Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa|EB|acantholysis bullosa NCIT:C67383|GARD:0006359|Wikipedia:Epidermolysis_bullosa|SCTID:61003004|EFO:1000690|DOID:2730|ICD10:Q81.9|MESH:D004820|ICD10:Q81|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa owl:Class MONDO:0012177 biolink:NamedThing posterior column ataxia-retinitis pigmentosa syndrome Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. tmpte7i6ely_mondo_relaxed.owl PCARP|autosomal recessive posterior column ataxia and retinitis pigmentosa|POSTERIOR column ataxia with retinitis pigmentosa|Pcarp|AXPC1 Orphanet:88628|GARD:0009898|MESH:C536343|UMLS:C1836916|UMLS:C4510304|OMIM:609033|ICD10:G11.1|SCTID:724065003 owl:Class MONDO:0100449 biolink:NamedThing FLVCR1-related retinopathy with or without ataxia A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene. tmpte7i6ely_mondo_relaxed.owl posterior column ataxia with retinitis pigmentosa|FLVCR1 retinopathy with or without ataxia|AXPC1|ataxia, posterior column, with retinitis pigmentosa|PCARP|autosomal recessive posterior column ataxia and retinitis pigmentosa|posterior column ataxia-retinitis pigmentosa syndrome owl:Class MONDO:0014288 biolink:NamedThing Joubert syndrome 21 Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene. tmpte7i6ely_mondo_relaxed.owl JBTS21|CSPP1 Joubert syndrome|Joubert syndrome caused by mutation in CSPP1|Joubert syndrome type 21|Joubert syndrome 21 OMIM:615636|UMLS:C3810212|Orphanet:397715|DOID:0110990|Orphanet:475 owl:Class GO:0009309 biolink:NamedThing amine biosynthetic process The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpte7i6ely_mondo_relaxed.owl amine synthesis|amine formation|amine biosynthesis|amine anabolism owl:Class GO:0044271 biolink:NamedThing cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. tmpte7i6ely_mondo_relaxed.owl nitrogen compound synthesis|nitrogen compound biosynthesis|nitrogen compound anabolism|nitrogen compound formation owl:Class MONDO:0012841 biolink:NamedThing inflammatory bowel disease 18 An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 18|inflammatory bowel disease type 18|IBD18 UMLS:C2677090|MESH:C567377|OMIM:612262|DOID:0110888 owl:Class MONDO:0000552 biolink:NamedThing breast lobular carcinoma An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. tmpte7i6ely_mondo_relaxed.owl lobular breast carcinoma|carcinoma of lobule of mammary gland|lobular adenocarcinoma|lobule of mammary gland carcinoma|lobular carcinoma|lobular carcinoma of the breast|lobular carcinoma of breast EFO:0008509|NCIT:C3771|DOID:0050938|UMLS:C0206692|SCTID:278054005|ICDO:8520/3 owl:Class GO:0023056 biolink:NamedThing positive regulation of signaling Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. tmpte7i6ely_mondo_relaxed.owl positive regulation of signaling process|positive regulation of signalling process owl:Class MONDO:0003596 biolink:NamedThing spindle cell liposarcoma A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma. tmpte7i6ely_mondo_relaxed.owl spindle cell liposarcoma ICD9:171.9|NCIT:C27489|SCTID:404073009|DOID:5705|UMLS:C1275275 owl:Class MONDO:0005103 biolink:NamedThing well-differentiated liposarcoma A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. tmpte7i6ely_mondo_relaxed.owl ALT|WDLS|well-differentiated liposarcoma|well differentiated liposarcoma|atypical lipoma|atypical lipomatous tumor|well differentiated liposarcoma of deep soft tissue NCIT:C4250|EFO:0000736|ICDO:8851/3|Orphanet:99971|ICD10:C49.9|UMLS:C1370889|ONCOTREE:WDLS owl:Class GO:0010561 biolink:NamedThing negative regulation of glycoprotein biosynthetic process Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903019 biolink:NamedThing negative regulation of glycoprotein metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of glycoprotein metabolism|inhibition of glycoprotein metabolism|down-regulation of glycoprotein metabolism|downregulation of glycoprotein metabolic process|down regulation of glycoprotein metabolic process|down regulation of glycoprotein metabolism|downregulation of glycoprotein metabolism|inhibition of glycoprotein metabolic process|down-regulation of glycoprotein metabolic process owl:Class MONDO:0019986 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy tmpte7i6ely_mondo_relaxed.owl UMLS:CN206920|Orphanet:97555|ICD10:N04.8 owl:Class UBERON:0001125 biolink:NamedThing serratus ventralis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034908 biolink:NamedThing scapular muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099123 biolink:NamedThing somato-dendritic dopamine secretion The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron. tmpte7i6ely_mondo_relaxed.owl STD DA release|somatodendritic dopamine release|STD dopamine release owl:Class CHEBI:52090 biolink:NamedThing methoxide An organic anion that is the conjugate base of methanol. tmpte7i6ely_mondo_relaxed.owl methoxide ion owl:Class MONDO:0010878 biolink:NamedThing hereditary spastic paraplegia 6 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. tmpte7i6ely_mondo_relaxed.owl autosomal dominant familial spastic paraplegia type 3|NIPA1 hereditary spastic paraplegia|hereditary spastic paraplegia type 6|familial spastic paraplegia autosomal dominant 3|familial spastic paraplegia, autosomal dominant, 3|spastic paraplegia 6|autosomal dominant spastic paraplegia type 6|FSP3|spastic paraplegia 6, autosomal dominant|SPG6|autosomal dominant spastic paraplegia 6|hereditary spastic paraplegia caused by mutation in NIPA1 OMIM:600363|UMLS:C4518537|SCTID:732949006|DOID:0110811|GARD:0004928|Orphanet:100988|UMLS:C1838192|ICD10:G11.4|MESH:C536866 owl:Class MONDO:0017914 biolink:NamedThing pure or complex autosomal dominant spastic paraplegia tmpte7i6ely_mondo_relaxed.owl Pure or complicated autosomal dominant spastic paraplegia ICD10:G11.4|Orphanet:320342 owl:Class MONDO:0021727 biolink:NamedThing aberrant subclavian artery Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. tmpte7i6ely_mondo_relaxed.owl congenital malpositioned subclavian artery|aberrant subclavian artery|congenital malposition of subclavian artery|aberrant left subclavian artery|aberrant right subclavian artery GARD:0005706|UMLS:C2936828|MESH:C535555|SCTID:93353003 https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery owl:Class UBERON:0002805 biolink:NamedThing right limbic lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002600 biolink:NamedThing limbic lobe tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003498 biolink:NamedThing Disproportionate short stature A kind of short stature in which different regions of the body are shortened to differing extents. tmpte7i6ely_mondo_relaxed.owl Short stature, severe disproportionate|Short stature, disproportionate UMLS:C1846797|UMLS:C0878659 HP:0008895|HP:0008900 human_phenotype owl:Class HP:0004322 biolink:NamedThing Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). tmpte7i6ely_mondo_relaxed.owl Stature below 3rd percentile|Short stature|Decreased body height|Small stature|Height less than 3rd percentile UMLS:C0349588|SNOMEDCT_US:237836003 peter 2008-02-27T03:19:00Z HP:0008882|HP:0001509|HP:0008871|HP:0003507|HP:0003512|HP:0003518|HP:0003501|HP:0008913|HP:0008888|HP:0003519 human_phenotype owl:Class MONDO:0020121 biolink:NamedThing muscular dystrophy Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. tmpte7i6ely_mondo_relaxed.owl DOID:9884|MedDRA:10028356|OMIM:310095|MESH:D009136|OMIM:600416|SCTID:73297009|Orphanet:98473|NCIT:C84910|OMIM:310000|OMIM:158800|OMIM:309930|GARD:0007922|OMIM:159050|ICD9:359.1|UMLS:C0026850|ICD10:G71.0|OMIM:309950 https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy owl:Class MONDO:0002840 biolink:NamedThing eosinophilic gastritis An eosinophilic gastroenteritis that is characterized by inflammation of the stomach. tmpte7i6ely_mondo_relaxed.owl eosinophilic gastritis ICD9:535.7|NCIT:C27052|DOID:4030|UMLS:C0267154|ICD9:535.40|SCTID:66329006|ICD9:535.70 https://github.com/monarch-initiative/mondo/issues/403 owl:Class HP:0003312 biolink:NamedThing Abnormal form of the vertebral bodies Abnormal morphology of vertebral body. tmpte7i6ely_mondo_relaxed.owl Abnormally shaped vertebrae UMLS:C1839326 human_phenotype owl:Class HP:0003468 biolink:NamedThing Abnormal vertebral morphology An abnormality of one or more of the vertebrae. tmpte7i6ely_mondo_relaxed.owl Abnormality of the vertebrae|Vertebral anomalies|Abnormal vertebral bodies|Multiple vertebral anomalies|Abnormal vertebrae UMLS:C4020839|Fyler:4108|UMLS:C4020840|UMLS:C0158775|SNOMEDCT_US:205043005|SNOMEDCT_US:74877002 A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). HP:0005719 human_phenotype owl:Class MONDO:0017999 biolink:NamedThing fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. tmpte7i6ely_mondo_relaxed.owl FAHN ICD10:G23.0|GARD:0010810|Orphanet:329308 owl:Class UBERON:0001543 biolink:NamedThing popliteal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003968 biolink:NamedThing peripheral lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002190 biolink:NamedThing subcutaneous adipose tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001013 biolink:NamedThing adipose tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007844 biolink:NamedThing cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29092 biolink:NamedThing OBSL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008824 biolink:NamedThing fetal akinesia deformation sequence Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes. tmpte7i6ely_mondo_relaxed.owl FADS|arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|fetal akinesia sequence|fetal akinesia deformation sequence|arthrogryposis multiplex congenita with pulmonary hypoplasia ICD9:754.89|NCIT:C129071|ICD10:Q87.8|SCTID:401138005|OMIM:300073|DOID:0111375|MESH:C536647|OMIMPS:208150|GARD:0009634 https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence owl:Class NCBITaxon:34621 biolink:NamedThing Dermacentor variabilis tmpte7i6ely_mondo_relaxed.owl American dog tick GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34619 biolink:NamedThing Dermacentor tmpte7i6ely_mondo_relaxed.owl Anocentor GC_ID:1 NCBITaxon:139398 ncbi_taxonomy owl:Class MONDO:0017991 biolink:NamedThing Takayasu arteritis Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. tmpte7i6ely_mondo_relaxed.owl Takayasu disease|Young female arteritis|pulseless disease|TA|aortic arch arteritis|idiopathic aortitis|Takayasu's arteritis|aortic Arch syndrome|Takayasu's disease|pharyngeal arch artery syndromic disease|Takayasu arteritis OMIM:207600|MESH:D013625|MedDRA:10043097|ICD10:M31.4|NCIT:C35062|GARD:0007730|EFO:1001857|Orphanet:3287|ICD9:446.7|DOID:2508|SCTID:239937004|NCIT:C34391|UMLS:C0039263 owl:Class MONDO:0010480 biolink:NamedThing anemia, nonspherocytic hemolytic, due to G6PD deficiency tmpte7i6ely_mondo_relaxed.owl hemolytic anemia due to G6PD deficiency|Class I G6PD deficiency|class I glucose-6-phosphate dehydrogenase deficiency|anemia, nonspherocytic hemolytic, due to G6PD deficiency|severe hemolytic anemia due to G6PD deficiency UMLS:C2720289|OMIM:300908|Orphanet:466026|MESH:C567533 owl:Class MONDO:0020585 biolink:NamedThing anemia due to erythrocyte enzyme disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. tmpte7i6ely_mondo_relaxed.owl anemia due to erythrocyte enzyme disorder UMLS:C4329304|NCIT:C131630 owl:Class MONDO:0009112 biolink:NamedThing rhizomelic chondrodysplasia punctata type 2 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. tmpte7i6ely_mondo_relaxed.owl peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|GNPAT rhizomelic chondrodysplasia punctata|RCDP2|rhizomelic chondrodysplasia punctata, type 2|Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata type 2|Rcdp2|Gnpat deficiency|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|Glyceronephosphate O-acyltransferase deficiency|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|type 2 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|Dhapat deficiency UMLS:C1857242|ICD10:Q77.3|Orphanet:177|OMIM:222765|Orphanet:309796|DOID:0110852|MESH:C537607|GARD:0009429 https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0000941 biolink:NamedThing cranial nerve II tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CARO_0001001 biolink:NamedThing neuron projection bundle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015756 biolink:NamedThing myeloid hemopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:171895 owl:Class MONDO:0019044 biolink:NamedThing tumor of hematopoietic and lymphoid tissues tmpte7i6ely_mondo_relaxed.owl UMLS:CN205528|Orphanet:68347 owl:Class MONDO:0011301 biolink:NamedThing pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. tmpte7i6ely_mondo_relaxed.owl pseudohypoparathyroidism type IB|PHP1B|Php 1B|pseudohypoparathyroidism, type IB|pseudohypoparathyroidism, type 1B Orphanet:94089|OMIM:603233|MESH:C548075|ICD10:E20.1|GARD:0010680|UMLS:C2932715|DOID:0080222 https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b owl:Class HGNC:1917 biolink:NamedThing CHD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018828 biolink:NamedThing pseudo-TORCH syndrome 2 tmpte7i6ely_mondo_relaxed.owl USP18 deficiency|pseudo-TORCH syndrome 2|PTORCH2 Orphanet:481665|OMIM:617397|UMLS:C4479376 owl:Class MONDO:0004903 biolink:NamedThing deep keratitis tmpte7i6ely_mondo_relaxed.owl DOID:9858|ICD10:H16.3|SCTID:445741003|ICD9:370.59|UMLS:C2960633|ICD9:370.5 owl:Class MONDO:0016846 biolink:NamedThing distal 22q11.2 microduplication syndrome Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported. tmpte7i6ely_mondo_relaxed.owl distal trisomy 22q11.2|distal dup(22)(q11.2) UMLS:CN202187|ICD10:Q92.3|SCTID:764524005|Orphanet:261337 owl:Class MONDO:0000934 biolink:NamedThing laryngeal leiomyoma A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl laryngeal leiomyoma|leiomyoma of the larynx|larynx leiomyoma|leiomyoma of larynx NCIT:C6027|UMLS:C1334370|DOID:10070 owl:Class MONDO:0002354 biolink:NamedThing benign laryngeal neoplasm A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma. tmpte7i6ely_mondo_relaxed.owl benign larynx tumor|laryngeal benign neoplasm|benign laryngeal tumor|benign larynx neoplasm|benign tumor of larynx|larynx benign neoplasm|benign neoplasm of larynx|laryngeal tumor|larynx neoplasm|benign neoplasm of the larynx|benign tumor of the larynx|laryngeal neoplasm, benign|benign laryngeal neoplasm SCTID:126692004|NCIT:C3601|MESH:D007822|UMLS:C0153952|ICD9:212.1|SCTID:92175003|DOID:2598|UMLS:C0023055 owl:Class MONDO:0016664 biolink:NamedThing drug-induced vasculitis A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. tmpte7i6ely_mondo_relaxed.owl drug induced cutaneous vasculitis|drug induced vasculitis ICD10:M31.8|NCIT:C112204|Orphanet:251325|UMLS:C3812646 owl:Class MONDO:0018640 biolink:NamedThing secondary vasculitis tmpte7i6ely_mondo_relaxed.owl Orphanet:445197 owl:Class MONDO:0008096 biolink:NamedThing nevus flammeus of nape of neck tmpte7i6ely_mondo_relaxed.owl Unna Nevus|nevus flammeus of nape of neck|erythema nuchae MESH:C567524|OMIM:163100 owl:Class MONDO:0004090 biolink:NamedThing vulvar basaloid squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm. tmpte7i6ely_mondo_relaxed.owl vulvar basaloid squamous cell carcinoma|vulvar basaloid carcinoma DOID:7048|NCIT:C40286|UMLS:C2211850 owl:Class MONDO:0003486 biolink:NamedThing basaloid squamous cell carcinoma A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. tmpte7i6ely_mondo_relaxed.owl basaloid carcinoma (morphologic abnormality)|basaloid squamous cell carcinoma|basaloid squamous cell carcinoma (morphologic abnormality)|basaloid carcinoma DOID:5522|UMLS:C1266005|NCIT:C54244|ICDO:8083/3 owl:Class MONDO:0012699 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2M A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. tmpte7i6ely_mondo_relaxed.owl limb-girdle muscular dystrophy type 2M|muscular dystrophy, limb-girdle, type 2M|MDDGC4|LGMD-FKTN related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|FKTN autosomal recessive limb-girdle muscular dystrophy|LGMD2M MESH:C566912|UMLS:C1969040|DOID:0110296|GARD:0012538|Orphanet:206554|ICD10:G71.0|OMIM:611588 owl:Class MONDO:0000173 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type C tmpte7i6ely_mondo_relaxed.owl UMLS:CN262500|OMIMPS:609308 owl:Class MONDO:0700021 biolink:NamedThing chromosome 14 disorder Chromosomal disorder in which chromosome 14 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class NCBITaxon:11723 biolink:NamedThing Simian immunodeficiency virus tmpte7i6ely_mondo_relaxed.owl simian immunodeficiency viruses SIV|simian immunodeficiency virus SIV|SIV|Chimpanzee immunodeficiency virus (SIV(CPZ))|simian immunodeficiency virus, SIV|CIV|Chimpanzee immunodeficiency virus|Simian immunodeficiency virus SIVcpz GC_ID:1 NCBITaxon:11677|NCBITaxon:11740|NCBITaxon:11739 ncbi_taxonomy owl:Class NCBITaxon:11646 biolink:NamedThing Lentivirus tmpte7i6ely_mondo_relaxed.owl Lentivirinae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006436 biolink:NamedThing submandibular gland adenoid cystic carcinoma An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of the submandibular gland|submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of submandibular gland EFO:1000555|UMLS:C1336522|SCTID:423189008|NCIT:C5935 owl:Class MONDO:0004724 biolink:NamedThing submandibular gland cancer A malignant neoplasm involving the submandibular gland. tmpte7i6ely_mondo_relaxed.owl submandibular gland carcinoma|malignant neoplasm of submaxillary gland|malignant tumor of the submandibular gland|malignant neoplasm of submandibular gland|malignant submandibular gland neoplasm|cancer of submandibular gland|carcinoma of submandibular gland|carcinoma of the submandibular gland|malignant tumor of submandibular gland|submandibular gland cancer ICD9:142.1|DOID:9173|SCTID:363380002|UMLS:C0153360|NCIT:C8396|ICD10:C08.0 owl:Class MONDO:0011789 biolink:NamedThing familial meningioma A meningioma that is transmitted from the parents to an offspring. tmpte7i6ely_mondo_relaxed.owl hereditary meningioma (disease)|susceptibility to familial meningioma|hereditary meningioma|meningioma, familial, susceptibility to|familial meningioma NCIT:C5301|OMIM:607174|DOID:4586|UMLS:C1333989|MESH:C537443|Orphanet:263662 owl:Class MONDO:0021449 biolink:NamedThing benign neoplasm of stomach A benign neoplasm that involves the stomach. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the stomach|gastric neoplasms, benign|benign tumors of the stomach|benign gastric tumors|benign stomach neoplasms|benign tumor of stomach|benign gastric tumor|benign tumors of stomach|stomach tumors, benign|benign stomach tumors|stomach benign neoplasm|benign gastric neoplasm|gastric tumors, benign|stomach neoplasms, benign|benign tumor of the stomach SCTID:92411005|UMLS:C0153943|NCIT:C3599|ICD10:D13.1|ICD9:211.1 owl:Class UBERON:0006245 biolink:NamedThing humerus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005258 biolink:NamedThing upper arm mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097746 biolink:NamedThing blood vessel diameter maintenance Any process that modulates the diameter of blood vessels. tmpte7i6ely_mondo_relaxed.owl regulation of blood vessel size|regulation of vasodilatation|blood vessel diameter homeostasis|regulation of vasodilation|regulation of blood vessel diameter owl:Class GO:0003018 biolink:NamedThing vascular process in circulatory system A circulatory process that occurs at the level of the vasculature. tmpte7i6ely_mondo_relaxed.owl vasculature process owl:Class CHEBI:39022 biolink:NamedThing inclusion compound A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces. tmpte7i6ely_mondo_relaxed.owl compuesto de inclusion|compose d'inclusion|inclusion complex|inclusion compounds|inclusion compound|compuestos de inclusion owl:Class CHEBI:50967 biolink:NamedThing non-covalently-bound molecular entity Systems consisting of two or more molecular entities held together by non-covalent interactions. tmpte7i6ely_mondo_relaxed.owl non-covalently-bound molecular entities owl:Class MONDO:0100203 biolink:NamedThing parainfluenza virus type 1 infectious disease A disease caused by infection with parainfluenza virus type 1. tmpte7i6ely_mondo_relaxed.owl human respirovirus 1 infectious disease|infection caused by human parainfluenza virus 1|infection due to human parainfluenza virus 1|parainfluenza 1 infection OMOP:4248511 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class MONDO:0005940 biolink:NamedThing respirovirus infectious disease Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface. tmpte7i6ely_mondo_relaxed.owl infections, Respirovirus EFO:0007465|MESH:D010253|UMLS:C3714630 owl:Class MONDO:0019416 biolink:NamedThing X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN206172|Orphanet:85317 owl:Class MONDO:0009434 biolink:NamedThing hypoproteinemia, hypercatabolic tmpte7i6ely_mondo_relaxed.owl IMD43|Beta-2-microglobulin deficiency|hypoproteinemia, hypercatabolic|B2M deficiency|immunodeficiency 43 OMIM:241600|UMLS:C1855796|MESH:C565476 owl:Class MONDO:0011476 biolink:NamedThing MHC class I deficiency Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. tmpte7i6ely_mondo_relaxed.owl BLS type 1|HLA CLASS I deficiency|bare lymphocyte syndrome type I|Bare lymphocyte syndrome type 1|BLSI|immunodeficiency by defective expression of HLA class 1|immunodeficiency by defective expression of HLA class type 1|Bare lymphocyte syndrome, type 1|HLA Class 1 deficiency|Bls, type 1|BLS, type I|BARE lymphocyte syndrome, type I SCTID:725136003|ICD10:D81.6|OMIM:241600|GARD:0008427|OMIM:604571|UMLS:C1858266|DOID:0060009|Orphanet:34592 owl:Class HGNC:18708 biolink:NamedThing GRIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010379 biolink:NamedThing Brunner syndrome Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. tmpte7i6ely_mondo_relaxed.owl Brunner syndrome|antisocial behavior, susceptibility to|BRNRS|monoamine oxidase A deficiency ICD10:E70.8|GARD:0003531|DOID:0060693|OMIM:300615|UMLS:C0796275|SCTID:718210003|Orphanet:3057|MESH:C563156 owl:Class MONDO:0023045 biolink:NamedThing ectodermal dysplasia arthrogryposis diabetes mellitus tmpte7i6ely_mondo_relaxed.owl GARD:0002042 https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus owl:Class MONDO:0007350 biolink:NamedThing coloboma, ocular, autosomal dominant tmpte7i6ely_mondo_relaxed.owl coloboma, ocular, autosomal dominant|coloboma, Uveoretinal|coloboma of iris, choroid, and retina OMIM:120200|Orphanet:98942|Orphanet:98944|Orphanet:194 owl:Class HGNC:1739 biolink:NamedThing CDC45 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002637 biolink:NamedThing Cerebral ischemia tmpte7i6ely_mondo_relaxed.owl Cerebrovascular ischemia|Brain ischemia|Disruption of blood oxygen supply to brain MSH:D002545|UMLS:C0007786|SNOMEDCT_US:389100007|SNOMEDCT_US:287731003|UMLS:C0917798 human_phenotype owl:Class HP:0033401 biolink:NamedThing Tissue ischemia Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. tmpte7i6ely_mondo_relaxed.owl 2021-01-09 15:02:58+00:00 peter human_phenotype owl:Class MONDO:0014321 biolink:NamedThing premature ovarian failure 8 Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene. tmpte7i6ely_mondo_relaxed.owl premature ovarian failure 8|primary ovarian failure caused by mutation in STAG3|POF8|STAG3 primary ovarian failure|premature ovarian failure type 8 OMIM:615723|UMLS:C3810367 owl:Class MONDO:0016600 biolink:NamedThing acute neonatal citrullinemia type I Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. tmpte7i6ely_mondo_relaxed.owl acute neonatal citrullinemia type 1|classic citrullinemia type 1|classic citrullinemia type I ICD10:E72.2|UMLS:CN201793|Orphanet:247546 owl:Class NCBITaxon:1648030 biolink:NamedThing Triticinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147389 biolink:NamedThing Triticeae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013577 biolink:NamedThing Lipedema Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema. tmpte7i6ely_mondo_relaxed.owl Lipedema (disease)|lipedema Lipedema (disease) SCTID:234102003|MESH:D065134|HP:0100695|OMIM:614103|ICD10:E65|MedDRA:10063955|Orphanet:77243 owl:Class UBERON:0011362 biolink:NamedThing cranial blood vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002200 biolink:NamedThing vasculature of head tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21304 biolink:NamedThing ADPRS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003192 biolink:NamedThing rete ovarii neoplasm A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of rete ovarii|rete ovarii neoplasm (disease)|tumor of rete ovarii|rete ovarii tumor DOID:4895|NCIT:C40016|UMLS:C1514909 owl:Class MONDO:0019915 biolink:NamedThing maternal uniparental disomy of chromosome 14 Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy of chromosome type 14|UPD(14)mat Orphanet:96184|ICD10:Q99.8 owl:Class MONDO:0018890 biolink:NamedThing Lyell syndrome Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. tmpte7i6ely_mondo_relaxed.owl ICD10:L51.2|UMLS:C0014518|Orphanet:537|UMLS:CN205258 owl:Class MONDO:0019810 biolink:NamedThing toxic epidermal necrolysis Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. tmpte7i6ely_mondo_relaxed.owl TEN|Lyell's syndrome|Lyell syndrome|toxic epidermolysis|Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|SJS-TEN ICD10:L51.2|UMLS:C0014518|OMIM:608579|MedDRA:10044223|Orphanet:95455|EFO:0004775|GARD:0007743|SCTID:23067006|NCIT:C79777|ICD9:695.15 https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis owl:Class MONDO:0006095 biolink:NamedThing atypical carcinoid tumor A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism. tmpte7i6ely_mondo_relaxed.owl malignant carcinoid tumor|atypical carcinoid tumor UMLS:C0391970|EFO:1000097|SCTID:445238008|NCIT:C72074|UMLS:C1266032 owl:Class MONDO:0005369 biolink:NamedThing carcinoid tumor A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement. tmpte7i6ely_mondo_relaxed.owl neuroendocrine tumor G1|carcinoid tumor|neuroendocrine neoplasm G1|carcinoid|carcinoid tumor (disease)|NET G1 carcinoid tumor (disease) HP:0100570|ICDO:8240/3|GARD:0009316|ICD9:209.60|SCTID:443492008|EFO:0004243|OMIM:114900|ICDO:8241/3|NCIT:C2915|MESH:D002276 Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources owl:Class NCBITaxon:41820 biolink:NamedThing Culicoides tmpte7i6ely_mondo_relaxed.owl punkies|Culicoides GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:58262 biolink:NamedThing Culicoidini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1000413 biolink:NamedThing endothelial cell of artery A blood vessel endothelial cell that is part of an arterial endothelium. tmpte7i6ely_mondo_relaxed.owl arterial endothelial cell KUPO:0001095|BTO:0004758|FMA:67761 CL:0002542 cell owl:Class UBERON:0006444 biolink:NamedThing annulus fibrosus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001995 biolink:NamedThing fibrocartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015718 biolink:NamedThing mosaic trisomy 12 Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. tmpte7i6ely_mondo_relaxed.owl trisomy 12 mosaicism|Mosaic trisomy type 12|Mosaic trisomy chromosome 12 SCTID:764463001|UMLS:CN073989|GARD:0005304|ICD10:Q92.1|Orphanet:1698 owl:Class MONDO:0700019 biolink:NamedThing chromosome 12 disorder Chromosomal disorder in which chromosome 12 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0004389 biolink:NamedThing epiphysis of metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021722 biolink:NamedThing vulvodynia Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months. tmpte7i6ely_mondo_relaxed.owl vulvodynia MESH:D056650|ICD9:625.70|SCTID:238968009 owl:Class MONDO:0007686 biolink:NamedThing gray platelet syndrome Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. tmpte7i6ely_mondo_relaxed.owl grey platelet syndrome|gray platelet syndrome|marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|GPS|platelet-type bleeding disorder 4|bleeding disorder, Platelet-type, 4|platelet alpha-granule deficiency|Alpha storage pool deficiency|BDPLT4 ICD10:D69.1|GARD:0002562|UMLS:C0272302|SCTID:51720005|NCIT:C84741|DOID:0111044|OMIM:187900|UMLS:CN205641|OMIM:139090|Orphanet:721|UMLS:C2717750|MESH:D055652 https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome owl:Class MONDO:0008229 biolink:NamedThing peroneal nerve, accessory deep tmpte7i6ely_mondo_relaxed.owl peroneal nerve, accessory deep|accessory deep peroneal nerve UMLS:C1868426|MESH:C536001|OMIM:170980|GARD:0008546 https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve owl:Class MONDO:0060502 biolink:NamedThing neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies|NDMSBA UMLS:C4479631|Orphanet:521426|OMIM:617527 owl:Class MONDO:0019797 biolink:NamedThing acrodysostosis Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. tmpte7i6ely_mondo_relaxed.owl peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|Arkless-Graham syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome|Maroteaux-Malamut syndrome|acrodysplasia OMIM:614613|UMLS:C0220659|MESH:C538179|DOID:14669|Orphanet:950|GARD:0005724|OMIMPS:101800|SCTID:66758006|OMIM:101800|ICD10:Q75.4|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis owl:Class MONDO:0013264 biolink:NamedThing amyotrophic lateral sclerosis type 12 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in OPTN|OPTN amyotrophic lateral sclerosis|ALS12|amyotrophic lateral sclerosis type 12|amyotrophic lateral sclerosis 12 Orphanet:803|OMIM:613435|DOID:0060203|UMLS:C3150692 owl:Class MONDO:0005144 biolink:NamedThing familial amyotrophic lateral sclerosis An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary amyotrophic lateral sclerosis OMIM:614373|OMIM:614696|OMIM:606070|OMIM:608031|EFO:0001356|OMIM:615515|OMIM:615426|OMIM:613435|OMIM:612577|OMIMPS:105400|OMIM:608627|OMIM:614808|OMIM:606640|OMIM:612069|OMIM:616437|OMIM:205100|OMIM:300857|OMIM:611895|OMIM:105400|OMIM:608030|OMIM:613954|OMIM:205250|OMIM:616208 owl:Class MONDO:0041850 biolink:NamedThing pneumonia caused by gram negative bacteria tmpte7i6ely_mondo_relaxed.owl pneumonia due to gram-negative bacteria|pneumonia caused by gram-negative bacteria|pneumonia due to gram negative bacteria|gram negative pneumonia|pneumonia caused by gram negative bacteria SCTID:430395005|UMLS:C0854248 owl:Class HGNC:29643 biolink:NamedThing MLPH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051341 biolink:NamedThing regulation of oxidoreductase activity Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpte7i6ely_mondo_relaxed.owl oxidoreductase regulator owl:Class HGNC:1391 biolink:NamedThing CACNA1D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054794 biolink:NamedThing hydrocephalus, congenital, 3, with brain anomalies tmpte7i6ely_mondo_relaxed.owl hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|hydrocephalus, nonsyndromic, autosomal recessive 3|HYC3|hydrocephalus, CONGENITAL, 3, with brain anomalies OMIM:617967 owl:Class HGNC:6993 biolink:NamedThing MEF2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006291 biolink:NamedThing malignant jugulotympanic paraganglioma A jugulotympanic paraganglioma that metastasizes to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl jugular body cancer|malignant neoplasm of jugular body|malignant glomus jugulare neoplasm|malignant glomus jugulare tumor|malignant neoplasm of the glomus jugulare|malignant tumor of the glomus jugulare|malignant jugulotympanic paraganglioma|malignant neoplasm of glomus jugulare|malignant jugular body neoplasm|cancer of jugular body|malignant tumor of glomus jugulare UMLS:C0347856|EFO:1000353|NCIT:C4623 owl:Class MONDO:0005922 biolink:NamedThing pleural tuberculosis Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. tmpte7i6ely_mondo_relaxed.owl tuberculosis of pleura|pearly disease|tuberculous pleurisy|pleura tuberculosis|tuberculous pleurisy in primary progressive tuberculosis|tuberculous pleuritis EFO:0007446|ICD9:010.1|ICD9:012.0|ICD10:A15.6|ICD9:010.10|NCIT:C26898|SCTID:186172004|MESH:D014396|ICD9:010.16|DOID:106|ICD9:010.12|ICD9:012.00 owl:Class MONDO:0024355 biolink:NamedThing respiratory tract infectious disorder Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. tmpte7i6ely_mondo_relaxed.owl infections, upper respiratory tract|infections, respiratory tract|infections, upper respiratory|upper respiratory infections|respiratory tract infection|infections, respiratory|upper respiratory tract infections|respiratory infection, upper|respiratory infections|infection, respiratory tract MESH:D012141|ICD9:519.8|SCTID:275498002 owl:Class MONDO:0008516 biolink:NamedThing syndactyly type 5 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. tmpte7i6ely_mondo_relaxed.owl postaxial syndactyly with metacarpal synostosis|SDTY5|SD5|syndactyly, type V|syndactyly with associated metacarpal and metatarsal fusion|syndactyly, type 5|syndactyly with metacarpal and metatarsal fusion ICD10:Q70.2|OMIM:186300|GARD:0005089|ICD10:Q70.0|MESH:C538155|SCTID:719159004|Orphanet:93406 https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5 owl:Class MONDO:0019530 biolink:NamedThing non-syndromic syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. tmpte7i6ely_mondo_relaxed.owl nonsyndromic syndactyly|syndactyly|symphalangy|chromosome 2q35 duplication syndrome|isolated syndactyly|webbing of digits|symphalangism ICD10:Q70.3|ICD10:Q70.2|MedDRA:10042778|UMLS:C0039075|ICD10:Q70.0|ICD10:Q70.9|NCIT:C87125|ICD10:Q70.1|ICD10:Q70.4|Orphanet:90025 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy https://github.com/monarch-initiative/mondo/issues/4051 owl:Class MONDO:0017726 biolink:NamedThing Tay-Sachs disease, b variant, adult form tmpte7i6ely_mondo_relaxed.owl hexosaminidase A deficiency, adult form|GM2 gangliosidosis, B variant, adult form Orphanet:309192|UMLS:C1848914|ICD10:E75.0 owl:Class MONDO:0010100 biolink:NamedThing Tay-Sachs disease GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. tmpte7i6ely_mondo_relaxed.owl GM2-gangliosidosis, adult chronic type|B variant GM2-gangliosidosis|sphingolipidosis, Tay-Sachs|TSD|Tay-Sachs disease, juvenile|TAY-Sachs disease|hexosaminidase a deficiency, adult type|gangliosidosis GM2, type 1|Tay-Sachs disease, pseudo-Ab variant|hexosaminidase alpha-subunit deficiency (variant B)|GM2-gangliosidosis, variant B1|hexosaminidase a deficiency|B variant GM2 gangliosidosis|disease, Tay-Sachs|GM2 gangliosidosis, B, B1 variant|hexa deficiency|Tay-Sachs disease, variant B1|Tay-Sachs disease|GM2-gangliosidosis, type 1|hexosaminidase A deficiency|GM2 gangliosidosis, type 1 GARD:0007737|MESH:D013661|SCTID:111385000|ICD10:E75.02|Orphanet:845|NCIT:C85184|DOID:3320|UMLS:C1848914|MedDRA:10043147|ICD10:E75.0|OMIM:272800|UMLS:C0039373 https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease owl:Class MONDO:0016958 biolink:NamedThing partial duplication of the long arm of chromosome 7 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial trisomy of the long arm of chromosome 7|chromosome 7q duplication|7q trisomy|partial duplication of the long arm of chromosome type 7|Duplication 7q|partial trisomy 7q|trisomy 7q|7q duplication|partial duplication of chromosome 7q|partial trisomy of chromosome 7q GARD:0005357|Orphanet:262887|UMLS:C0795821|MESH:C537821 owl:Class MONDO:0019321 biolink:NamedThing atypical Werner syndrome A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. tmpte7i6ely_mondo_relaxed.owl atypical progeroid syndrome UMLS:CN205977|ICD10:E34.8|GARD:0011910|Orphanet:79474|SCTID:715633008|UMLS:C4275075 https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome owl:Class MONDO:0019923 biolink:NamedThing Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 tmpte7i6ely_mondo_relaxed.owl Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11|UPD(11)pat|Mosaic paternal uniparental disomy of chromosome 11 UMLS:CN206842|Orphanet:96193|ICD10:Q87.3 owl:Class MONDO:0020057 biolink:NamedThing uniparental disomy of paternal origin tmpte7i6ely_mondo_relaxed.owl 2022-04-01 SCTID:726402006|Orphanet:98154|ICD10:Q99.8 Reason: grouping class. Term to consider: none owl:Class MONDO:0006378 biolink:NamedThing pleural epithelioid mesothelioma Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns. tmpte7i6ely_mondo_relaxed.owl pleural epithelioid mesothelioma|pleura malignant epithelioid mesothelioma|malignant epithelioid mesothelioma of pleura NCIT:C45662|UMLS:C1709574|EFO:1000484 owl:Class UBERON:0012490 biolink:NamedThing muscle layer of anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011198 biolink:NamedThing muscle layer of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009468 biolink:NamedThing pseudotumor cerebri Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. tmpte7i6ely_mondo_relaxed.owl idiopathic intracranial hypertension|benign intracranial hypertension|IIH|pseudotumor cerebri|benign intracran. hypt.|intracranial hypertension, idiopathic MedDRA:10037149|Orphanet:238624|ICD9:348.2|OMIM:243200|SCTID:68267002|ICD10:G93.2|DOID:11459|UMLS:C0033845|GARD:0004561|EFO:1001132|MESH:D011559|NCIT:C85035 https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri owl:Class MONDO:0006810 biolink:NamedThing intracranial hypertension A finding characterized by increased cerebrospinal fluid pressure within the skull. tmpte7i6ely_mondo_relaxed.owl raised intracranial pressure UMLS:C0151740|EFO:1000992|MedDRA:10022764|MESH:D019586|DOID:9428|NCIT:C84791 owl:Class MONDO:0009953 biolink:NamedThing leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type IIC|RHS|leukocyte adhesion deficiency, type 2|lad-type II|congenital disorder of glycosylation, type IIc|Rambam-Hasharon syndrome|CDG2C|CDG IIc|CDG syndrome type IIc|leukocyte adhesion deficiency, type II|CDG-IIc|leukocyte adhesion deficiency type II|lad-II|SLC35C1-CDG (CDG-IIc)|leukocyte adhesion deficiency type 2|SLC35C1-CDG|sialyl-Lewis X defect|LAD2|CDGIIc|CDG 2C Orphanet:99843|OMIM:266265|SCTID:234583001|UMLS:C0398739|GARD:4634|NCIT:C4690|MESH:C535755|ICD10:D84.8|GARD:0004634|DOID:0070255|Orphanet:2968 owl:Class HP:0011283 biolink:NamedThing Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. tmpte7i6ely_mondo_relaxed.owl Abnormality of the metencephalon UMLS:C4023432 peter 2012-01-01T01:24:14Z human_phenotype owl:Class HP:0011282 biolink:NamedThing Abnormality of hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. tmpte7i6ely_mondo_relaxed.owl Abnormality of the hindbrain|Abnormal shape of hindbrain UMLS:C4021170 The hindbrain consists of two main structures: The pons and the cerebellum. peter 2012-01-01T01:22:36Z human_phenotype owl:Class MONDO:0017375 biolink:NamedThing congenital enterovirus infection Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn. tmpte7i6ely_mondo_relaxed.owl congenital enterovirus infectious disease|congenital enterovirus infection|antenatal enterovirus infection|congenital infection caused by enterovirus|mother-to-child transmission of enterovirus infection SCTID:716865000|ICD10:P35.8|UMLS:C4274223|Orphanet:292 owl:Class HGNC:10519 biolink:NamedThing SACS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004337 biolink:NamedThing perianal skin Paget disease Paget disease involving the perianal skin. tmpte7i6ely_mondo_relaxed.owl perianal skin Paget's disease|perianal skin mammary Paget's disease|anal margin Paget's disease|Paget's disease of the anal margin|perianal skin Paget disease|Paget disease of the anal margin NCIT:C7476|UMLS:C1332270|DOID:7708 owl:Class MONDO:0002651 biolink:NamedThing anal Paget disease A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). tmpte7i6ely_mondo_relaxed.owl Paget's disease of anus|anal Paget's disease|anal Paget disease|Paget disease of the anus|Paget's disease of the anus|anus mammary Paget's disease|anus Paget disease DOID:3446|NCIT:C5598|UMLS:C1332274 owl:Class MONDO:0012631 biolink:NamedThing Alzheimer disease 14 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. tmpte7i6ely_mondo_relaxed.owl AD14|Alzheimer's disease 14|Alzheimer's disease type 14|Alzheimer disease 14 DOID:0110047|ICD10:G30|MESH:C566999|UMLS:C1970144|OMIM:611154 owl:Class MONDO:0008315 biolink:NamedThing prostate cancer A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas. tmpte7i6ely_mondo_relaxed.owl tumor of the prostate|malignant tumor of the prostate|malignant neoplasm of the prostate|hereditary prostate cancer|prostate neoplasm|prostate cancer, familial|malignant prostate gland neoplasm|malignant tumor of prostate|malignant prostate neoplasm|malignant neoplasm of prostate gland|prostatic cancer|cancer of prostate gland|prostate gland cancer|malignant neoplasm of prostate|prostate cancer|NGP - new growth of prostate|prostatic neoplasm|malignant prostate tumor OMIM:300147|OMIM:611958|OMIM:611868|OMIM:611928|OMIM:608658|OMIM:603688|DOID:10283|ICD9:185|OMIM:611959|OMIM:602759|OMIM:300704|OMIM:610997|OMIM:608656|OMIM:614731|OMIM:611955|OMIM:610321|OMIM:611100|OMIM:601518|NCIT:C7378|OMIM:609299|MESH:D011471|UMLS:C0376358|ICD10:C61|NCIT:C3343|SCTID:399068003|OMIM:609558 owl:Class MONDO:0016515 biolink:NamedThing Kallmann syndrome-heart disease syndrome Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. tmpte7i6ely_mondo_relaxed.owl UMLS:CN201538|ICD10:Q24.8|Orphanet:2326 owl:Class MONDO:0002843 biolink:NamedThing fungal gastritis Gastritis resulting from fungi. tmpte7i6ely_mondo_relaxed.owl Fungi caused gastritis (disease)|Fungi gastritis (disease)|fungal gastritis SCTID:723097009|UMLS:C0948638|NCIT:C27342|DOID:4034 owl:Class MONDO:0000751 biolink:NamedThing cervical polyp A polyp that arises from the surface of the cervix. tmpte7i6ely_mondo_relaxed.owl adenomatous polyp of cervix|cervix uteri adenomatous polyp|polyp of cervix uteri|adenomatous polyp of the uterine cervix|adenomatous polyp of the cervix|adenomatous polyp of uterine cervix|uterine cervix adenomatous polyp|cervix uteri polyp|cervix polyp|polyp of the uterine cervix|cervical polyp|uterine cervix polyp|polyp of the cervix|cervix adenomatous polyp|cervical polyp (disease)|polyp of cervix|polyp of the cervix uteri|polyp of uterine cervix cervical polyp (disease) HP:0030159|SCTID:65576009|UMLS:C0007855|ICD10:D26|ICD9:219|DOID:0060325|ICD10:D26.9|NCIT:C2939|UMLS:C0347493 owl:Class MONDO:0012783 biolink:NamedThing RFT1-CDG RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). tmpte7i6ely_mondo_relaxed.owl CDG-In|carbohydrate deficient glycoprotein syndrome type In|RFT1-CDG (CDG-In)|congenital disorder of glycosylation type 1n|CDG in|congenital disorder of glycosylation, type In|CDG1N|congenital disorder of glycosylation type In|Man5GlcNAc2-PP-Dol flippase deficiency|CDG syndrome type In|CDGIN Orphanet:244310|OMIM:612015|GARD:0012394|MESH:C567437|DOID:0080566|ICD10:E77.8|SCTID:733084000|UMLS:C2677590 owl:Class GO:0043068 biolink:NamedThing positive regulation of programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpte7i6ely_mondo_relaxed.owl up regulation of programmed cell death|upregulation of programmed cell death|positive regulation of non-apoptotic programmed cell death|up-regulation of programmed cell death|activation of programmed cell death|stimulation of programmed cell death owl:Class GO:0010942 biolink:NamedThing positive regulation of cell death Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002325 biolink:NamedThing mammary alveolar cell The milk-producing cell of the alveolar unit that emerges during pregnancy. tmpte7i6ely_mondo_relaxed.owl epithelial cell of lactiferous gland|luminal cell of alveolus of lactiferous gland FMA:74506|FMA:79866 tmeehan 2010-09-20T01:30:57Z CL:1000476|CL:0002230 cell owl:Class UBERON:0001365 biolink:NamedThing sacro-iliac joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030603 biolink:NamedThing Klebsiella infectious disease Infections with bacteria of the genus KLEBSIELLA. tmpte7i6ely_mondo_relaxed.owl infection, Klebsiella|Klebsiella disease or disorder|Klebsiella caused disease or disorder|Klebsiella infection|infections, Klebsiella SCTID:721756002|MESH:D007710|GARD:0010085|EFO:1001353 owl:Class MONDO:0017676 biolink:NamedThing marginal papular palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl marginal papular palmoplantar hyperkeratosis ICD10:Q82.8|Orphanet:307995 owl:Class MONDO:0025371 biolink:NamedThing Parvoviridae infectious disease Virus infections caused by the parvoviridae. tmpte7i6ely_mondo_relaxed.owl infections, Parvovirus|Parvoviridae caused disease or disorder|infection, Parvoviridae|Parvovirus infections|Parvovirus infection|Parvoviridae infection|disease due to Parvoviridae|infections, Parvoviridae|disease caused by Parvoviridae|Parvoviridae disease or disorder|infection, Parvovirus ICD9:078.89|SCTID:83223005|MESH:D010322 owl:Class UBERON:0010060 biolink:NamedThing pharyngeal opening of pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3606 biolink:NamedThing FBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008914 biolink:NamedThing cardioauditory syndrome of Sanchez Cascos tmpte7i6ely_mondo_relaxed.owl Sanchez Cascos cardioauditory syndrome|cardioauditory syndrome of Sanchez Cascos UMLS:C1859329|GARD:0008519|MESH:C535577|OMIM:212100 https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos owl:Class GO:0051129 biolink:NamedThing negative regulation of cellular component organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpte7i6ely_mondo_relaxed.owl down regulation of cell organization|down-regulation of cell organization|negative regulation of cell organisation|inhibition of cell organization|negative regulation of cellular component organization and biogenesis|downregulation of cell organization owl:Class MONDO:0020594 biolink:NamedThing abducens nerve disorder A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). tmpte7i6ely_mondo_relaxed.owl abducens nerve disease or disorder|abducens nerve disorder|disorder of abducens nerve|VIth nerve disorder|disease of abducens nerve|abducens nerve disease|disease or disorder of abducens nerve NCIT:C27593|SCTID:398925009 owl:Class UBERON:0003060 biolink:NamedThing pronephric duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012275 biolink:NamedThing meso-epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002480 biolink:NamedThing nasal mucosa goblet cell A goblet cell located in the nasal epithelium. tmpte7i6ely_mondo_relaxed.owl MP:0002262 tmeehan 2010-12-03T03:03:02Z cell owl:Class MONDO:0002183 biolink:NamedThing enthesopathy A disorder involving the attachment of a tendon or ligament to a bone tmpte7i6ely_mondo_relaxed.owl disease or disorder of enthesis|disease of enthesis|enthesis disease|enthesis disease or disorder|disorder of enthesis SCTID:23680005|ICD9:726.9|ICD10:M77.9|MESH:D012216|ICD9:726.90|UMLS:C0242490|DOID:204 owl:Class GO:0050805 biolink:NamedThing negative regulation of synaptic transmission Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpte7i6ely_mondo_relaxed.owl down regulation of synaptic transmission|down-regulation of synaptic transmission|inhibition of synaptic transmission|downregulation of synaptic transmission owl:Class MONDO:0020158 biolink:NamedThing eyelids malposition disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227803|Orphanet:98567 owl:Class MONDO:0010026 biolink:NamedThing SHORT syndrome SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. tmpte7i6ely_mondo_relaxed.owl SHORT syndrome|partial lipodystrophy with Rieger anomaly and short stature|Rieger anomaly-partial lipodystrophy syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|lipodystrophy, partial, with Rieger anomaly and short stature|lipodystrophy-Rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|Aarskog-Ose-Pande syndrome|short syndrome MESH:C537327|Orphanet:3163|GARD:0007633|DOID:0111454|UMLS:C0878684|OMIM:269880|ICD10:Q87.1 owl:Class MONDO:0004328 biolink:NamedThing maxillary sinus adenocarcinoma An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of maxillary sinus|maxillary sinus adenocarcinoma|adenocarcinoma of the maxillary sinus DOID:7684|NCIT:C6240|SCTID:707339009|UMLS:C1334642 owl:Class MONDO:0008491 biolink:NamedThing stiff-person syndrome Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. tmpte7i6ely_mondo_relaxed.owl Moersch-Woltman syndrome|Morsch Woltman syndrome|Stiff-trunk syndrome|STIFF-PERSON syndrome|stiff man syndrome|stiff-person syndrome|Stiff-Man syndrome|Stiff Person syndrome|Stiff-man syndrome|SMS|Stiff man syndrome|progressive encephalomyelitis with rigidity|SPS|Stiff person syndrome and related disorders Orphanet:3198|UMLS:C1861457|UMLS:C0085292|MedDRA:10042044|ICD10:G25.82|OMIM:184850|MESH:D016750|DOID:13366|ICD10:G25.8|EFO:0007498|ICD9:333.91|NCIT:C85170|SCTID:5217008|GARD:0005023 owl:Class HGNC:4877 biolink:NamedThing HESX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015424 biolink:NamedThing lethal chondrodysplasia, Moerman type tmpte7i6ely_mondo_relaxed.owl Moerman-Vandenberghe-Fryns syndrome|lethal chondrodysplasia Moerman type GARD:0003225|UMLS:CN199519|ICD10:Q77.8|Orphanet:1420 https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type owl:Class MONDO:0019180 biolink:NamedThing hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. tmpte7i6ely_mondo_relaxed.owl Rendu-Osler disease|Rendu-Osler-Weber disease|HHT|telangiectasia, hereditary hemorrhagic|Osler hemorrhagic telangiectasia syndrome|Osler-Weber-Rendu disease|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler|hereditary hemorrhagic telangiectasia GARD:0006626|ICD10:I78.0|MedDRA:10019883|OMIMPS:187300|OMIM:610655|OMIM:601101|SCTID:21877004|OMIM:600376|UMLS:C0039445|OMIM:615506|DOID:1270|NCIT:C35064|Orphanet:774|OMIM:187300|ICD9:448.0|MESH:D013683 owl:Class MONDO:0017138 biolink:NamedThing Opitz G/BBB syndrome Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). tmpte7i6ely_mondo_relaxed.owl Opitz G/BBB syndrome|G syndrome|hypospadias-dysphagia syndrome|Opitz syndrome|Opitz-G syndrome, type 2|hypertelorism hypospadias syndrome|Opitz-GBBB syndrome|GBBB syndrome|telecanthus with associated abnormalities|hypertelorism with esophageal abnormality and hypospadias|Opitz GBBB syndrome|Opitz G syndrome|hypertelorism-oesophageal abnormality-hypospadias syndrome|Opitz-Frias syndrome|hypospadias-hypertelorism syndrome|Opitz BBBG syndrome|BBB syndrome|hypospadias-dysphagia, syndrome ICD9:758.89|Orphanet:2745|NCIT:C125487|DOID:0050780|UMLS:CN202554|KEGG:H00583|OMIMPS:300000|OMIM:145410|SCTID:81771002|OMIM:300000|ICD10:Q87.8|GARD:0000193 https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome owl:Class GO:0009152 biolink:NamedThing purine ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleotide formation|purine ribonucleotide biosynthesis|purine ribonucleotide anabolism|purine ribonucleotide synthesis owl:Class MONDO:0016520 biolink:NamedThing isolated Klippel-Feil syndrome Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. tmpte7i6ely_mondo_relaxed.owl congenital cervical vertebral fusion|nonsyndromic Klippel-Feil syndrome|congenital fused cervical segments|Klippel-Feil sequence|Klippel-Feil malformation OMIM:118100|OMIM:214300|ICD10:Q76.1|Orphanet:2345|OMIM:613702 owl:Class HGNC:4390 biolink:NamedThing GNAQ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008789 biolink:NamedThing anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane tmpte7i6ely_mondo_relaxed.owl anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane OMIM:206300|UMLS:C1859786|MESH:C565953 owl:Class MONDO:0000105 biolink:NamedThing anemia, nonspherocytic hemolytic tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018008 biolink:NamedThing idiopathic giant cell myocarditis tmpte7i6ely_mondo_relaxed.owl IGCM ICD10:I40.8|Orphanet:329874 owl:Class MONDO:0005110 biolink:NamedThing idiopathic cardiomyopathy A disease of the heart muscle or myocardium proper whose cause is unknown. tmpte7i6ely_mondo_relaxed.owl NCIT:C53654|EFO:0000767 owl:Class MONDO:0019122 biolink:NamedThing idiopathic acute eosinophilic pneumonia Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. tmpte7i6ely_mondo_relaxed.owl Loffler's syndrome|Loeffler syndrome|Löffler syndrome|Loffler syndrome|Loeffler's pneumonia|IAEP|pulmonary infiltrates with eosinophilia ICD10:J82|Orphanet:724|DOID:9503|GARD:0000519|GARD:0000107|NCIT:C35301|UMLS:C0242459|MESH:D011657|SCTID:64936001|UMLS:CN227574|UMLS:C4518469 owl:Class MONDO:0004802 biolink:NamedThing pulmonary eosinophilia A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. tmpte7i6ely_mondo_relaxed.owl DOID:9498|MESH:D011657|UMLS:C0034068|ICD9:518.3|SCTID:367542003 owl:Class MONDO:0016290 biolink:NamedThing Hernández-Aguirre Negrete syndrome A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild mental retardation|Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability Orphanet:2139|MESH:C538112|SCTID:721146009|ICD10:Q87.8|GARD:0003491 https://github.com/monarch-initiative/mondo/issues/3597 owl:Class GO:0012506 biolink:NamedThing vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016020 biolink:NamedThing membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. tmpte7i6ely_mondo_relaxed.owl region of membrane|whole membrane|membrane region owl:Class MONDO:0012552 biolink:NamedThing multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. tmpte7i6ely_mondo_relaxed.owl multiple endocrine neoplasia, type 4|MEN4|CDKN1B multiple endocrine neoplasia|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia type 4|multiple endocrine neoplasia, type IV UMLS:C4274947|NCIT:C157449|DOID:0080137|MESH:C567059|OMIM:610755|SCTID:715907003|UMLS:C1970712|ICD10:D44.8|Orphanet:276152 owl:Class MONDO:0004311 biolink:NamedThing carcinoma of Cowper glands A carcinoma that involves the bulbo-urethral gland. tmpte7i6ely_mondo_relaxed.owl Cowper gland carcinoma|bulbo-urethral gland carcinoma|carcinoma of Cowper glands|carcinoma of bulbo-urethral gland DOID:7632|NCIT:C39864|UMLS:C1516284 owl:Class MONDO:0003975 biolink:NamedThing Littre gland carcinoma A carcinoma involving a male urethral gland. tmpte7i6ely_mondo_relaxed.owl male urethral gland carcinoma|carcinoma of male urethral gland|carcinoma of LittrC) glands|carcinoma of Littre glands|carcinoma of Littré glands NCIT:C39865|DOID:6721|UMLS:C1516285 owl:Class CL:2000032 biolink:NamedThing peripheral nervous system neuron Any neuron that is part of a peripheral nervous system. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-25T02:28:17Z cell owl:Class UBERON:0016879 biolink:NamedThing future central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12910 biolink:NamedThing MKRN3-AS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019094 biolink:NamedThing congenital Epstein-Barr virus infection Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection. tmpte7i6ely_mondo_relaxed.owl antenatal Epstein-Barr virus infection|mother-to-child transmission of Epstein-Barr virus infection|antenatal EBV infection|congenital EBV infection ICD10:P35.8|SCTID:716660007|UMLS:C4274357|Orphanet:70596 owl:Class GO:0002376 biolink:NamedThing immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007617 biolink:NamedThing synovial cavity of joint tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010828 biolink:NamedThing positive regulation of glucose transmembrane transport Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl positive regulation of glucose transport owl:Class MONDO:0008771 biolink:NamedThing amelogenesis imperfecta type 1G An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. tmpte7i6ely_mondo_relaxed.owl AIGFS|amelogenesis imperfecta caused by mutation in FAM20A|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|enamel renal syndrome|AI1G|enamel-renal syndrome|amelogenesis imperfecta-gingival hyperplasia syndrome|amelogenesis imperfecta and nephrocalcinosis|amelogenesis imperfecta-nephrocalcinosis syndrome|amelogenesis imperfecta hypoplastic type, IG|enamel-renal-gingival syndrome|amelogenesis imperfecta hypoplastic with nephrocalcinosis|generalized enamel hypoplasia and renal dysfunction|FAM20A amelogenesis imperfecta|ers|amelogenesis imperfecta type IG|absent enamel, nephrocalcinosis and apparently normal calcium metabolism|amelogenesis imperfecta, type IG|amelogenesis imperfecta nephrocalcinosis|amelogenesis imperfecta and gingival fibromatosis syndrome UMLS:CN200302|ICD10:K00.5|GARD:0000646|DOID:0110066|SCTID:109477002|OMIM:614253|OMIM:204690|GARD:0009860|Orphanet:171836|ICD9:520.5|MESH:C538241|Orphanet:1031 https://github.com/monarch-initiative/mondo/issues/3537 owl:Class UBERON:0003835 biolink:NamedThing abdominal segment blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015047 biolink:NamedThing manual digit 5 metacarpus endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013367 biolink:NamedThing long QT syndrome 2 An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. tmpte7i6ely_mondo_relaxed.owl long QT syndrome type 2|LQT2|long QT syndrome 2|long QT syndrome 2, acquired, susceptibility to|long QT syndrome 2/5, digenic|long QT syndrome 2/3, digenic|long QT syndrome 2/9, digenic|long QT syndrome 1/2, digenic OMIM:613688|ICD10:I45.8|GARD:0003285|Orphanet:768|DOID:0110645|HGNC:6251|Orphanet:101016|NCIT:C137957|MESH:C563614|UMLS:C3150943 https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 owl:Class UBERON:0005213 biolink:NamedThing outer renal medulla interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005169 biolink:NamedThing interstitial tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011438 biolink:NamedThing acne An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. tmpte7i6ely_mondo_relaxed.owl acne|acne, adult|frontalis acne|acne vulgaris|acne varioliformis|acne (disease) acne (disease) MTH:217|ICD10:L70.2|ICD10:L70.9|DOID:6543|ICD10:L70|ICD9:706.0|NCIT:C27195|EFO:0003894|HP:0001061|OMIM:604324 owl:Class GO:0051171 biolink:NamedThing regulation of nitrogen compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpte7i6ely_mondo_relaxed.owl regulation of nitrogen metabolic process|regulation of nitrogen metabolism owl:Class MONDO:0005310 biolink:NamedThing atrial flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) tmpte7i6ely_mondo_relaxed.owl atrial flutter (disease)|atrial flutter atrial flutter (disease) EFO:0003911|ICD9:427.32|HP:0004749|NCIT:C51224|SCTID:5370000|MESH:D001282 owl:Class MONDO:0000452 biolink:NamedThing progressive relapsing multiple sclerosis A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. tmpte7i6ely_mondo_relaxed.owl progressive-relapsing MS|PRMS SCTID:230374002|MESH:D020528|UMLS:C0393666|DOID:0050785 owl:Class MONDO:0005284 biolink:NamedThing chronic progressive multiple sclerosis A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpte7i6ely_mondo_relaxed.owl DOID:0050784|UMLS:C0393665|EFO:0003840|MESH:D020528|SCTID:230373008|DOID:0050783|DOID:0050785 owl:Class HGNC:3518 biolink:NamedThing EXTL3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001982 biolink:NamedThing capillary tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010523 biolink:NamedThing microcirculatory vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019407 biolink:NamedThing microcephalic osteodysplastic dysplasia, Saul-Wilson type A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1. tmpte7i6ely_mondo_relaxed.owl microcephalic osteodysplastic dysplasia, Saul-Wilson type|SWILS|Saul-Wilson syndrome|microcephalic osteodysplastic dysplasia DOID:0111673|OMIM:618150|Orphanet:85172|ICD10:Q78.8 owl:Class MONDO:0001876 biolink:NamedThing renal artery atheroma A atherosclerosis that involves the renal artery. tmpte7i6ely_mondo_relaxed.owl renal atherosclerosis|renal artery atherosclerosis|atherosclerosis of renal artery ICD9:440.1|DOID:14092|ICD10:I70.1|SCTID:45281005|UMLS:C0155734 owl:Class MONDO:0002286 biolink:NamedThing renal artery disease A disease involving the renal artery. tmpte7i6ely_mondo_relaxed.owl vascular disorder of kidney|renal vascular disease NCIT:C101254|SCTID:16934004|UMLS:C0268790|UMLS:C3640053|ICD9:593.81|DOID:2388 owl:Class MONDO:0009937 biolink:NamedThing pulmonary venoocclusive disease A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. tmpte7i6ely_mondo_relaxed.owl obstructive disease of the pulmonary veins|pulmonary capillary hemangiomatosis|pulmonary veno-occlusive disease|PVOD MedDRA:10037458|ICD9:416.8|NCIT:C85039|GARD:0010153|OMIM:265450|DOID:5453|SCTID:89420002|OMIMPS:265450|MESH:D011668|Orphanet:31837|UMLS:C0034091 https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease owl:Class MONDO:0018554 biolink:NamedThing pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. tmpte7i6ely_mondo_relaxed.owl EFO:0009199|UMLS:CN237555|Orphanet:431353 owl:Class MONDO:0005989 biolink:NamedThing toxoplasmosis A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. tmpte7i6ely_mondo_relaxed.owl Toxoplasma gondii infectious disease|Toxoplasma gondii caused disease or disorder|disseminated toxoplasmosis|Toxoplasma gondii disease or disorder ICD9:130.9|UMLS:C0040558|ICD9:130.7|ICD9:130|DOID:9965|ICD10:B58|ICD10:B58.9|SCTID:187192000|EFO:0007517|NCIT:C3418|MESH:D014123 owl:Class UBERON:0015757 biolink:NamedThing heterogeneous tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000479 biolink:NamedThing tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019985 biolink:NamedThing drug-related renal tubular dysgenesis tmpte7i6ely_mondo_relaxed.owl Orphanet:97368|ICD10:Q63.8 owl:Class MONDO:0017609 biolink:NamedThing renal tubular dysgenesis Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl renotubular dysgenesis|primitive renal tubule syndrome ICD10:Q63.8|GARD:0000379|Orphanet:3033|SCTID:702397002|OMIM:267430 owl:Class MONDO:0014998 biolink:NamedThing glaucoma 3, primary congenital, E tmpte7i6ely_mondo_relaxed.owl glaucoma 3, primary congenital, E; GLC3E|GLC3E|glaucoma 3, primary congenital, E|glaucoma 3, primary congenital, type E UMLS:C4310639|OMIM:617272 owl:Class MONDO:0020366 biolink:NamedThing congenital glaucoma Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. tmpte7i6ely_mondo_relaxed.owl buphthalmos|buphthalmia|Buphthalmus|primary congenital glaucoma OMIM:617272|SCTID:204113001|NCIT:C50648|OMIM:231300|Orphanet:98976|OMIM:613085|OMIM:600975|OMIM:613086|GARD:0002485|ICD10:Q15.0 Editor note: check placement of subclasses owl:Class MONDO:0019905 biolink:NamedThing ring chromosome 9 Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl chromosome 9 ring|Ring chromosome type 9|Ring chromosome 9 syndrome|Ring 9|r9 UMLS:CN036105|GARD:0001348|SCTID:60650002|ICD10:Q93.2|Orphanet:96173|MESH:C538022 https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9 owl:Class MONDO:0018186 biolink:NamedThing ring chromosome Aberrant chromosomes with no ends, i.e., circular. tmpte7i6ely_mondo_relaxed.owl supernumerary circular chromosome 2022-04-01 NCIT:C3360|ICD10:Q93.2|MESH:D012303|Orphanet:363203 Reason: grouping class. This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, refering to both autosomal and gonosomal chromosomes. Term to consider: MONDO:0700091 MONDO:0700091 owl:Class GO:1901228 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in heart development Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development. tmpte7i6ely_mondo_relaxed.owl positive regulation of transcription from Pol II promoter involved in heart development|up regulation of transcription from RNA polymerase II promoter involved in cardiac development|activation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|upregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of transcription from RNA polymerase II promoter involved in heart development|upregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in dorsal vessel development|upregulation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of global transcription from Pol II promoter involved in heart development|stimulation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in heart development|activation of transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in cardiac development|activation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from Pol II promoter involved in dorsal vessel development|upregulation of global transcription from RNA polymerase II promoter involved in heart development|positive regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in heart development|stimulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in cardiac development|up-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of global transcription from RNA polymerase II promoter involved in heart development owl:Class GO:0045944 biolink:NamedThing positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl stimulation of global transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter|up regulation of global transcription from RNA polymerase II promoter|activation of global transcription from RNA polymerase II promoter|up-regulation of global transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|positive regulation of transcription from Pol II promoter|up-regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|stimulation of transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, global owl:Class UBERON:0002402 biolink:NamedThing pleural cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035809 biolink:NamedThing serous cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003604 biolink:NamedThing trachea cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006210 biolink:NamedThing body-wall mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013225 biolink:NamedThing congenital generalized lipodystrophy type 4 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. tmpte7i6ely_mondo_relaxed.owl BSCL4|Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|lipodystrophy, congenital generalized, type 4|CGL4|GCL4|CAVIN1 congenital generalized lipodystrophy (disease)|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|Brunzell syndrome AGPAT2-related|generalized congenital lipodystrophy with myopathy|generalized congenital lipodystrophy type 4|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy UMLS:C2750069|Orphanet:228429|MESH:C567642|ICD10:E88.1|DOID:0111138|GARD:0010937|OMIM:613327 owl:Class MONDO:0000172 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type B tmpte7i6ely_mondo_relaxed.owl OMIMPS:613155|UMLS:CN228400 owl:Class MONDO:0021074 biolink:NamedThing precancerous condition A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. tmpte7i6ely_mondo_relaxed.owl premalignant condition|precancerous condition|precancerous state|premalignant state MESH:D011230|NCIT:C3341 Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome owl:Class HsapDv:0000143 biolink:NamedThing 49-year-old human stage Middle aged stage that refers to an adult who is over 49 and under 50. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016769 biolink:NamedThing transferase activity, transferring nitrogenous groups Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl transferase activity, transferring other nitrogenous groups owl:Class GO:0016740 biolink:NamedThing transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000704 biolink:NamedThing lymphocytic colitis Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. tmpte7i6ely_mondo_relaxed.owl DOID:0060184|ICD9:558.9|MedDRA:10025268|GARD:0006939|Orphanet:65279|NCIT:C27147|SCTID:31437008|ICD10:K52.89|EFO:1001294|ICD10:K52.832|MESH:D046730|UMLS:C0400822 owl:Class MONDO:0000702 biolink:NamedThing microscopic colitis Inflammation of the colon that is only apparent by microscopic examination. tmpte7i6ely_mondo_relaxed.owl Orphanet:58220|UMLS:C0400821|NCIT:C38504|EFO:1001295|DOID:0060182|ICD9:558.9|MESH:D046728|SCTID:235753003 owl:Class MONDO:0005174 biolink:NamedThing acute hypotension Acute form of hypotension (disease). tmpte7i6ely_mondo_relaxed.owl acute hypotension (disease)|hypotension (disease), acute EFO:0002497 owl:Class UBERON:0008230 biolink:NamedThing tibialis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004256 biolink:NamedThing hindlimb zeugopod muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002250 biolink:NamedThing basilar artery insufficiency A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. tmpte7i6ely_mondo_relaxed.owl basilar artery syndrome UMLS:C0004812|SCTID:64009001|NCIT:C34413|ICD9:435.0|DOID:223 owl:Class MONDO:0001631 biolink:NamedThing vertebral artery insufficiency A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. tmpte7i6ely_mondo_relaxed.owl vertebral artery syndrome SCTID:34781003|DOID:13095|NCIT:C35123|ICD9:435.1|UMLS:C0042560|MESH:D014715 owl:Class MONDO:0035136 biolink:NamedThing isolated melanotic schwannoma tmpte7i6ely_mondo_relaxed.owl Orphanet:590539 owl:Class MONDO:0100342 biolink:NamedThing malignant glioma A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. tmpte7i6ely_mondo_relaxed.owl malignant glial neoplasm|high grade glioma|malignant glioma|malignant neuroglial tumor|neuroglial tumor|glial cell tumor|malignant glial tumor|malignant neuroglial neoplasm|high-grade glioma|glioma, malignant|glioma NCIT:C3059|Orphanet:182067|MESH:D005910|KEGG:05214|UMLS:C0555198|SCTID:393564001|NCIT:C4822|ICDO:9380/3|DOID:3070|UMLS:C0017638|MedDRA:10018338 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024281 biolink:NamedThing juvenile chronic polyarthritis A group of conditions used to describe polyarthritis occurring in children. tmpte7i6ely_mondo_relaxed.owl juvenile chronic polyarthritis NCIT:C26979 owl:Class MONDO:0024280 biolink:NamedThing polyarticular arthritis An arthritis affecting five or more separate joints. tmpte7i6ely_mondo_relaxed.owl polyarticular arthritis|polyarthritis NCIT:C26996|SCTID:416956002 owl:Class CL:0000657 biolink:NamedThing secondary spermatocyte One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids. tmpte7i6ely_mondo_relaxed.owl FBbt:00004941|CALOHA:TS-2195|BTO:0000709|FMA:72293 cell owl:Class CL:0000017 biolink:NamedThing spermatocyte A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids. tmpte7i6ely_mondo_relaxed.owl WBbt:0006799|FMA:84049|FBbt:00004936|CALOHA:TS-0951|EMAPA:31484|BTO:0001275 cell owl:Class HGNC:9154 biolink:NamedThing PNKP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006782 biolink:NamedThing hemometra Blood-filled uterus. tmpte7i6ely_mondo_relaxed.owl hematometra EFO:1000962|ICD9:621.4|DOID:9958|SCTID:38280009|MESH:D006409|ICD10:N85.7 owl:Class MONDO:0002654 biolink:NamedThing uterine disorder A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. tmpte7i6ely_mondo_relaxed.owl uterus disease or disorder|uterine disease|disease of uterus|uterus disease|uterine disorder|disorder of uterus|disease or disorder of uterus ICD9:621.8|ICD10:N85.9|ICD9:621.9|MESH:D014591|DOID:345|UMLS:C0042131|NCIT:C26907|SCTID:12337004 owl:Class MONDO:0010399 biolink:NamedThing chromosome Xp21 deletion syndrome tmpte7i6ely_mondo_relaxed.owl Glycerol kinase deficiency-contiguous gene syndrome|Complex Glycerol kinase deficiency|monosomy Xp21|Xp21 microdeletion syndrome|chromosome Xp21 deletion syndrome|complex glycerol kinase deficiency|Xp21 contiguous gene deletion syndrome|Del(X)(p21) OMIM:300679|ICD9:277.6|ICD10:Q99.8|DOID:0060427|UMLS:C0795887|SCTID:297257004|Orphanet:261476 owl:Class MONDO:0006188 biolink:NamedThing EBV-positive T-cell lymphoproliferative disorder of childhood An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma. tmpte7i6ely_mondo_relaxed.owl EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood EFO:1000228|NCIT:C80373|UMLS:C2699838 owl:Class HGNC:9080 biolink:NamedThing PLN tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:16134 biolink:NamedThing ammonia An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. tmpte7i6ely_mondo_relaxed.owl AMMONIA|spirit of hartshorn|ammoniac|ammonia|R-717|amoniaco|NH3|Ammonia|[NH3]|azane|Ammoniak owl:Class CHEBI:37176 biolink:NamedThing mononuclear parent hydride tmpte7i6ely_mondo_relaxed.owl mononuclear hydrides|mononuclear hydride|mononuclear parent hydrides owl:Class MONDO:0011309 biolink:NamedThing familial gestational hyperthyroidism tmpte7i6ely_mondo_relaxed.owl hyperthyroidism, familial gestational Orphanet:99819|MESH:C566384|ICD9:648.10|OMIM:603373|ICD9:242.80|ICD10:E05.8|UMLS:C1863959|SCTID:703309000 owl:Class MONDO:0022468 biolink:NamedThing antigen-peptide-transporter 2 deficiency An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections. tmpte7i6ely_mondo_relaxed.owl TAP 2 deficiency|antigen processing (TAP) deficiency syndrome GARD:0000732 https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency owl:Class GO:0048754 biolink:NamedThing branching morphogenesis of an epithelial tube The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. tmpte7i6ely_mondo_relaxed.owl tubulogenesis owl:Class GO:0061138 biolink:NamedThing morphogenesis of a branching epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0007447 biolink:NamedThing Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles. tmpte7i6ely_mondo_relaxed.owl Hyperkeratosis, diffuse palmoplantar|Diffuse palmoplantar keratoderma MSH:D015776|UMLS:C4021575 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. HP:0007435 human_phenotype owl:Class HP:0000972 biolink:NamedThing Palmoplantar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. tmpte7i6ely_mondo_relaxed.owl Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratosis|Thickened palms and soles|Thick palms and soles|Hyperkeratosis of palms and soles|Palmoplantar keratoses|Hyperkeratosis of the palms and soles UMLS:C0022596|MSH:D007645|SNOMEDCT_US:706885006 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. human_phenotype owl:Class MONDO:0021826 biolink:NamedThing aerobic Actinomyces infection Infection with the less common aerobic antinomyces bacteria. tmpte7i6ely_mondo_relaxed.owl MESH:C538054|UMLS:C2931717|GARD:0009779 https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection owl:Class MONDO:0005631 biolink:NamedThing actinomycosis Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. tmpte7i6ely_mondo_relaxed.owl infections, Actinomyces|Madura foot due to Actinomadura|actinomycotic mycetema|actinomycetoma|boil|Actinomyces infection|Keratoactinomycosis|anaerobic Actinomyces infection|actinomycotic mycetoma of foot|Actinomyces israeli|actinomycotic madura foot|Actinomycetes|canaliculitis ICD10:A42.0|ICD10:A42.1|ICD10:A42.8|GARD:0005728|ICD9:039.9|Orphanet:457095|UMLS:C0001261|SCTID:11817007|EFO:0007128|ICD10:A42.7|NCIT:C34350|ICD9:039|DOID:8478|ICD10:A42.9|MESH:D000196|ICD10:A42.2|ICD10:A42 https://rarediseases.info.nih.gov/diseases/5728/actinomycosis owl:Class UBERON:0001763 biolink:NamedThing odontogenic papilla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005856 biolink:NamedThing developing mesenchymal condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014600 biolink:NamedThing dyskeratosis congenita, autosomal recessive 6 Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene. tmpte7i6ely_mondo_relaxed.owl dyskeratosis congenita caused by mutation in PARN|autosomal recessive dyskeratosis congenita 6|dyskeratosis congenita, autosomal recessive 6|DKCB6|PARN dyskeratosis congenita|dyskeratosis congenita, autosomal recessive type 6 UMLS:C4225356|Orphanet:1775|DOID:0070024|OMIM:616353|Orphanet:3322 owl:Class CL:0002592 biolink:NamedThing smooth muscle cell of the coronary artery A smooth muscle cell of the coronary artery. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:01:34Z cell owl:Class CL:0002494 biolink:NamedThing cardiocyte A cell located in the heart, including both muscle and non muscle cells. tmpte7i6ely_mondo_relaxed.owl heart cell BTO:0001539|CALOHA:TS-0115|FMA:83808|FMA:84791 From Onard of the FMA: Cardiac muscle cell or cardiac myocyte is a striated muscle cell. Cardiocyte on the other hand is any cell in the heart which includes cells other than muscle cells (e.g. endothelial cell of endocardium). Unless there is a consensus among anatomists that cardiocytes refer only to muscle cells, we will treat them as a general class of cells in the heart. tmeehan 2010-12-07T09:37:22Z cell owl:Class NCBITaxon:1264872 biolink:NamedThing Basidiobolales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1399768 biolink:NamedThing Basidiobolomycetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020641 biolink:NamedThing respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. tmpte7i6ely_mondo_relaxed.owl neoplasm of respiratory tract|tumor of respiratory tract|tumor of the respiratory tract|respiratory system neoplasm|neoplasm of the respiratory tract|respiratory tract neoplasm|tract neoplasms, respiratory|respiratory tract tumor|neoplasms, respiratory tract|neoplasm, respiratory tract|tract neoplasm, respiratory NCIT:C3355|EFO:0003853|MESH:D012142|SCTID:126667002 owl:Class MONDO:0009250 biolink:NamedThing fructose utilization tmpte7i6ely_mondo_relaxed.owl fructose utilization 2022-04-01 OMIM:229650 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0001103 biolink:NamedThing giardiasis An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. tmpte7i6ely_mondo_relaxed.owl Giardiases|Giardia infection|Lambliases|infections, Giardia|infection by Giardia lamblia|Giardia|beaver feaver|lambliasis ICD10:A07.1|SCTID:10679007|MESH:D005873|UMLS:C0017536|DOID:10718|ICD9:007.1 owl:Class MONDO:0024270 biolink:NamedThing parasitic intestinal disorder Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. tmpte7i6ely_mondo_relaxed.owl intestine parasitic infection|parasitic intestinal disease|diseases, parasitic intestinal|parasitic intestinal diseases|intestinal disease, parasitic|disease, parasitic intestinal UMLS:C0021832|MESH:D007411 owl:Class GO:0080135 biolink:NamedThing regulation of cellular response to stress Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050794 biolink:NamedThing regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpte7i6ely_mondo_relaxed.owl regulation of cellular physiological process owl:Class MONDO:0012898 biolink:NamedThing narcolepsy 4, susceptibility to tmpte7i6ely_mondo_relaxed.owl narcolepsy 4, susceptibility to|NRCLP4 OMIM:612417|UMLS:C2676275|Orphanet:2073 owl:Class MONDO:0016158 biolink:NamedThing narcolepsy-cataplexy syndrome Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). tmpte7i6ely_mondo_relaxed.owl GC)lineau disease|Gelineau syndrome|Gelineau's syndrome|narcolepsy-cataplexy syndrome|Gélineau disease|narcolepsy with cataplexy|narcoleptic syndrome|paroxysmal sleep ICD10:G47.41|MedDRA:10028713|OMIM:612851|OMIM:612417|ICD10:G47.4|NCIT:C84489|EFO:0000614|OMIM:614223|Orphanet:2073|ICD10:G47.419|OMIM:614250|GARD:0007162|DOID:8986|OMIM:161400|OMIM:609039|OMIM:605841|SCTID:60380001|ICD9:347.0|MESH:D009290 https://rarediseases.info.nih.gov/diseases/7162/narcolepsy owl:Class MONDO:0006424 biolink:NamedThing soft tissue neoplasm A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. tmpte7i6ely_mondo_relaxed.owl tumor of the soft tissue|neoplasm of soft tissue|neoplasm of the soft tissue|tumor of soft tissue|SOFTTISSUE|soft tissue tumor|soft tissue tumors|soft tissue neoplasm NCIT:C3377|ONCOTREE:SOFTTISSUE|EFO:1000541|SCTID:387837005 owl:Class MONDO:0011588 biolink:NamedThing platelet-type bleeding disorder 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. tmpte7i6ely_mondo_relaxed.owl platelet prostaglandin-endoperoxide synthase 1 deficiency|platelet COX1 deficiency|bleeding disorder, platelet-type, 12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|PGHS1 deficiency|BDPLT12|platelet cyclooxygenase 1 deficiency MESH:C567786|OMIM:605735|DOID:0111058|UMLS:C2751535 owl:Class MONDO:0000009 biolink:NamedThing inherited bleeding disorder, platelet-type tmpte7i6ely_mondo_relaxed.owl blood platelet disease|bleeding disorder, platelet-type|thrombocytopathy|platelet disorder UMLS:C0005818|SCTID:22716005|DOID:2218|OMIMPS:231200|MESH:D001791 owl:Class UBERON:0002363 biolink:NamedThing dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010031 biolink:NamedThing Sjogren-Larsson syndrome A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. tmpte7i6ely_mondo_relaxed.owl FALDH deficiency|Sjogren-Larsson's syndrome|fatty aldehyde dehydrogenase deficiency|fatty alcohol:NAD+ oxidoreductase deficiency|fatty acid alcohol oxidoreductase deficiency|Sjogren-Larsson syndrome|FADH deficiency|FAO deficiency|Sjogren Larsson syndrome|Sjögren-Larsson syndrome|SLS|ichthyosis, spastic neurologic disorder, and oligophrenia GARD:0007654|MESH:D016111|SCTID:111303009|OMIM:270200|DOID:14501|EFO:0007031|MedDRA:10048676|NCIT:C85070|Orphanet:816|ICD10:Q87.1|UMLS:C0037231 https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome owl:Class GO:0010877 biolink:NamedThing lipid transport involved in lipid storage The directed movement of lipids into cells that is part of their accumulation and maintenance. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006869 biolink:NamedThing lipid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:7742 biolink:NamedThing Vertebrata tmpte7i6ely_mondo_relaxed.owl Vertebrata|vertebrates GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:89593 biolink:NamedThing Craniata tmpte7i6ely_mondo_relaxed.owl Craniata GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008948 biolink:NamedThing cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. tmpte7i6ely_mondo_relaxed.owl cholestanol storage disease|CTx|sterol 27-hydroxylase deficiency|cerebrotendinous xanthomatosis|cerebral cholesterinosis OMIM:213700|UMLS:C0238052|ICD10:E75.5|GARD:0005622|MESH:D019294|Orphanet:909|SCTID:63246000|DOID:4810|NCIT:C84628 https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis owl:Class MONDO:0019218 biolink:NamedThing inborn disorder of bile acid synthesis Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. tmpte7i6ely_mondo_relaxed.owl inborn errors of bile acid synthesis|inborn bile acid biosynthetic process disorder|rare inborn error of bile acid biosynthetic process|inborn error of bile acid biosynthetic process|disorder of bile acid synthesis UMLS:CN544763|UMLS:CN231736|GTR:AN0923838|Orphanet:79168 owl:Class GO:0009719 biolink:NamedThing response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050896 biolink:NamedThing response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. tmpte7i6ely_mondo_relaxed.owl physiological response to stimulus owl:Class MONDO:0027069 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 tmpte7i6ely_mondo_relaxed.owl MC5DM1|mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1 DOID:0111748|OMIM:500015 owl:Class MONDO:0014471 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex deficiency A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). tmpte7i6ely_mondo_relaxed.owl isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency|isolated ATP synthase deficiency OMIM:615228|Orphanet:254913|OMIM:616045|OMIM:614053|OMIM:604273|ICD10:E88.8|DOID:0111143|OMIMPS:604273|UMLS:C4015062 Consider splitting out nuclear type for OMIMPS owl:Class MONDO:0018034 biolink:NamedThing thalidomide embryopathy A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. tmpte7i6ely_mondo_relaxed.owl fetal thalidomide syndrome|thalidomide-induced birth defect|thalidomide embryopathy syndrome MedDRA:10071249|GARD:0002313|ICD9:759.89|NCIT:C99082|UMLS:C0432365|Orphanet:3312|ICD10:Q86.8|SCTID:36193003 owl:Class MONDO:0005601 biolink:NamedThing ovarian mucinous adenocarcinoma An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. tmpte7i6ely_mondo_relaxed.owl ovarian mucinous carcinoma|mucinous carcinoma of ovary|ovary mucinous adenocarcinoma|mucinous adenocarcinoma of ovary|mucinous adenocarcinoma of the ovary|ovarian mucinous adenocarcinoma|mucinous carcinoma of the ovary UMLS:C1335167|Orphanet:398961|NCIT:C5243|DOID:3606|ICD10:C56|EFO:0006462|UMLS:CN205033 owl:Class GO:0043225 biolink:NamedThing ATPase-coupled inorganic anion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in). tmpte7i6ely_mondo_relaxed.owl ATP-dependent anion transmembrane transporter activity|anion-transporting ATPase activity|anion ABC transporter|ATPase-coupled anion transmembrane transporter activity|anion transmembrane-transporting ATPase activity owl:Class GO:0015103 biolink:NamedThing inorganic anion transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017144 biolink:NamedThing alpha-thalassemia and related diseases tmpte7i6ely_mondo_relaxed.owl Orphanet:275745|UMLS:CN202570|ICD10:D56.0 owl:Class MONDO:0044348 biolink:NamedThing hemoglobinopathy tmpte7i6ely_mondo_relaxed.owl hemoglobin disorder|hemoglobin disease|globin abnormality|hemoglobinopathy SCTID:80141007|ICD9:282.7 owl:Class ECTO:0000922 biolink:NamedThing exposure to EC 3.5.1.4 (amidase) inhibitor An exposure to EC 3.5.1.4 (amidase) inhibitor. tmpte7i6ely_mondo_relaxed.owl exposure to EC 3.5.1.4 (amidase) inhibitor owl:Class ECTO:0000557 biolink:NamedThing exposure to inhibitor An exposure to inhibitor. tmpte7i6ely_mondo_relaxed.owl exposure to inhibitor owl:Class MONDO:0030907 biolink:NamedThing intellectual disability, X-linked 106 tmpte7i6ely_mondo_relaxed.owl X-linked mental retardation 106|intellectual disability, X-linked 106|mental retardation, X-linked 106|MRX106|X-linked intellectual disability 106 DOID:0080240|OMIM:300997 owl:Class MONDO:0013394 biolink:NamedThing porencephaly-microcephaly-bilateral congenital cataract syndrome tmpte7i6ely_mondo_relaxed.owl porencephaly-microcephaly-bilateral congenital cataract syndrome|hemorrhagic destruction of the brain, subependymal calcification, and cataracts|HDBSCC UMLS:C3151000|Orphanet:306547|OMIM:613730 owl:Class GO:0045916 biolink:NamedThing negative regulation of complement activation Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation. tmpte7i6ely_mondo_relaxed.owl down regulation of complement activation|down-regulation of complement activation|inhibition of complement activation|downregulation of complement activation|negative regulation of complement cascade owl:Class MONDO:0007380 biolink:NamedThing lattice corneal dystrophy type I Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. tmpte7i6ely_mondo_relaxed.owl Biber-Haab-Dimmer dystrophy|lattice corneal dystrophy, type 1|corneal dystrophy, lattice type I|corneal dystrophy, lattice type 1|Lcd1|LCDI|lattice corneal dystrophy type 1|CDL1|classic lattice corneal dystrophy|LCD UMLS:CN207224|OMIM:608471|OMIM:122200|UMLS:C1690006|GARD:0009678|ICD10:H18.5|MESH:C537881|SCTID:419197009|Orphanet:98964 owl:Class UBERON:0001166 biolink:NamedThing pylorus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043135 biolink:NamedThing microcephaly microphthalmos blindness tmpte7i6ely_mondo_relaxed.owl GARD:0003629|MESH:C537541|UMLS:C2931526 owl:Class GO:0031337 biolink:NamedThing positive regulation of sulfur amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpte7i6ely_mondo_relaxed.owl stimulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism|upregulation of sulfur amino acid metabolic process owl:Class GO:0006775 biolink:NamedThing fat-soluble vitamin metabolic process The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpte7i6ely_mondo_relaxed.owl fat-soluble vitamin metabolism owl:Class GO:0006766 biolink:NamedThing vitamin metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. tmpte7i6ely_mondo_relaxed.owl vitamin metabolism owl:Class MONDO:0011530 biolink:NamedThing mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. tmpte7i6ely_mondo_relaxed.owl mesomelic dysplasia Savarirayan type|mesomelic dysplasia, Savarirayan type|triangular tibia-fibular aplasia syndrome|mesomelic dysplasia with absent fibulas and triangular tibias|triangular tibia and fibular aplasia MESH:C565349|OMIM:605274|UMLS:C1854470|ICD10:Q78.8|GARD:0010584|SCTID:715652002|Orphanet:85170 https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type owl:Class UBERON:0008962 biolink:NamedThing forelimb bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004738 biolink:NamedThing histidine metabolism disease A disease that has its basis in the disruption of histidine metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of histidine metabolic process|histidine metabolic process disease|disturbance of histidine metabolism|disorder of histidine metabolism UMLS:C0268512|SCTID:44176004 owl:Class MONDO:0014085 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 2 Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene. tmpte7i6ely_mondo_relaxed.owl hydrocephalus, nonsyndromic, autosomal recessive 2|MPDZ congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive type 2|congenital hydrocephalus caused by mutation in MPDZ|HYC2 OMIM:615219|Orphanet:2185|UMLS:C3554691 owl:Class HGNC:3179 biolink:NamedThing EDNRA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11037 biolink:NamedThing SLC5A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007384 biolink:NamedThing congenital trigeminal anesthesia Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). tmpte7i6ely_mondo_relaxed.owl familial trigeminal anesthesia|trigeminal anesthesia, familial|corneal hypesthesia, familial GARD:0010034|ICD10:G50.8|MESH:C536440|SCTID:763218005|Orphanet:231013|OMIM:122450|UMLS:C1852541 owl:Class MONDO:0008749 biolink:NamedThing pseudohypoparathyroidism type 2 Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. tmpte7i6ely_mondo_relaxed.owl pseudohypoparathyroidism, type II|PHP II|PHP2|Php 2 MESH:C548077|UMLS:C2932717|UMLS:CN206737|Orphanet:94090|SCTID:42183005|ICD9:275.49|OMIM:203330|GARD:0010682|ICD10:E20.1 https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 owl:Class MONDO:0020055 biolink:NamedThing autosomal uniparental disomy tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:98152|UMLS:CN229262|ICD10:Q99.8 Reason: grouping class. Term to consider: MONDO:0700086 MONDO:0700086 owl:Class MONDO:0008151 biolink:NamedThing gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. tmpte7i6ely_mondo_relaxed.owl Gnathodiaphyseal sclerosis|gnathodiaphyseal dysplasia|Levin syndrome 2|osteogenesis imperfecta Levin type|GNATHODIAPHYSEAL dysplasia|GDD|osteogenesis imperfecta with unusual skeletal lesions UMLS:C1833736|MESH:C536039|OMIM:166260|SCTID:715568002|DOID:0111533|Orphanet:53697|GARD:0008698 owl:Class MONDO:0009404 biolink:NamedThing hypertelorism, microtia, facial clefting syndrome Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. tmpte7i6ely_mondo_relaxed.owl Bixler syndrome|HMC syndrome|hypertelorism microtia facial clefting syndrome|Bixler Christian Gorlin syndrome|hypertelorism-microtia-facial clefting syndrome|hypertelorism, microtia, facial clefting syndrome|hypertelorism-microtia-clefting syndrome|Bixler-Christian-Gorlin syndrome MESH:C537632|OMIM:239800|DOID:14670|Orphanet:2213|GARD:0000897|SCTID:721836009|ICD10:Q87.0|UMLS:C0220742 owl:Class MONDO:0009909 biolink:NamedThing progesterone resistance tmpte7i6ely_mondo_relaxed.owl pseudocorpus luteum insufficiency|progesterone resistance OMIM:264080|UMLS:C1849699|MESH:C564871 owl:Class HGNC:435 biolink:NamedThing ALOX5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008463 biolink:NamedThing split-hand and split-foot with hypodontia tmpte7i6ely_mondo_relaxed.owl split-hand and split-foot with hypodontia MESH:C566665|UMLS:C1866742|OMIM:183500 owl:Class CL:0002305 biolink:NamedThing epithelial cell of distal tubule An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. tmpte7i6ely_mondo_relaxed.owl kidney distal tubule epithelial cell FMA:62125|KUPO:0001055|FMA:70981 cell owl:Class MONDO:0001147 biolink:NamedThing meningocele A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium. tmpte7i6ely_mondo_relaxed.owl meningocele|meningocele (disease)|central nervous system meningocele|spinal meningocele meningocele (disease) Orphanet:93968|HP:0002435|DOID:1088|SCTID:171131006|NCIT:C105595|MESH:D008588|NCIT:C101209|UMLS:C0025299|GARD:0003471 owl:Class UBERON:0002509 biolink:NamedThing mesenteric lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002507 biolink:NamedThing abdominal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045835 biolink:NamedThing negative regulation of meiotic nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis. tmpte7i6ely_mondo_relaxed.owl inhibition of meiosis|downregulation of meiosis|negative regulation of meiosis|down regulation of meiosis|down-regulation of meiosis owl:Class MONDO:0000647 biolink:NamedThing benign vaginal neoplasm A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus. tmpte7i6ely_mondo_relaxed.owl vagina female reproductive organ benign neoplasm|vagina benign neoplasm|vaginal benign neoplasm|benign neoplasm of the vagina|benign vaginal neoplasm|benign vaginal tumor|benign neoplasm of vagina|benign vaginal neoplasms|benign tumor of vagina|benign tumor of the vagina ICD9:221.1|NCIT:C3610|UMLS:C0154002|SCTID:92473001|DOID:0060114 owl:Class MONDO:0000624 biolink:NamedThing benign female reproductive system neoplasm A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor. tmpte7i6ely_mondo_relaxed.owl benign gynecologic neoplasm|benign female reproductive system tumor|female reproductive organ benign neoplasm|benign gynecologic tumor|benign female reproductive system neoplasm DOID:0060086|NCIT:C4934|UMLS:C0744514 owl:Class MONDO:0008382 biolink:NamedThing retinoschisis, autosomal dominant Autosomal dominant form of retinoschisis. tmpte7i6ely_mondo_relaxed.owl retinoschisis, autosomal dominant|autosomal dominant retinoschisis|retinoschisis autosomal dominant OMIM:180270|UMLS:C1867235|GARD:0009144|MESH:C000598640 https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant owl:Class MONDO:0004579 biolink:NamedThing retinoschisis An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision. tmpte7i6ely_mondo_relaxed.owl UMLS:C0152439|MESH:D041441|DOID:8465|ICD10:H33.10|NCIT:C85046|ICD9:361.10|SCTID:44268007 owl:Class GO:0044282 biolink:NamedThing small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpte7i6ely_mondo_relaxed.owl small molecule catabolism owl:Class GO:0044281 biolink:NamedThing small molecule metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpte7i6ely_mondo_relaxed.owl small molecule metabolism owl:Class UBERON:0005985 biolink:NamedThing coronary vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000055 biolink:NamedThing vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001636 biolink:NamedThing mechanical entropion tmpte7i6ely_mondo_relaxed.owl SCTID:38683003|ICD9:374.02|DOID:13112|UMLS:C0155189 owl:Class ECTO:7000045 biolink:NamedThing exposure to stellar radiation A exposure event involving the interaction of an exposure receptor to stellar radiation. tmpte7i6ely_mondo_relaxed.owl stellar radiation exposure owl:Class ECTO:0000002 biolink:NamedThing exposure to electromagnetic radiation A exposure event involving the interaction of an exposure receptor to electromagnetic radiation. tmpte7i6ely_mondo_relaxed.owl electromagnetic radiation exposure owl:Class GO:1905788 biolink:NamedThing negative regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that stops, prevents or reduces the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpte7i6ely_mondo_relaxed.owl inhibition of perception of touch, sensory transduction of mechanical stimulus|down regulation of sensory transduction of mechanical stimulus during perception of touch|down-regulation of sensory transduction of mechanical stimulus during perception of touch|down-regulation of tactition, sensory detection of mechanical stimulus|downregulation of perception of touch, sensory detection of mechanical stimulus|down regulation of detection of mechanical stimulus involved in sensory perception of touch|negative regulation of perception of touch, sensory detection of mechanical stimulus|down-regulation of perception of touch, sensory detection of mechanical stimulus|negative regulation of sensory transduction of mechanical stimulus during perception of touch|downregulation of detection of mechanical stimulus involved in sensory perception of touch|negative regulation of sensory detection of mechanical stimulus during perception of touch|down regulation of perception of touch, detection of mechanical stimulus|down regulation of tactition, sensory detection of mechanical stimulus|inhibition of tactition, sensory detection of mechanical stimulus|down-regulation of detection of mechanical stimulus involved in sensory perception of touch|inhibition of perception of touch, sensory detection of mechanical stimulus|downregulation of sensory transduction of mechanical stimulus during perception of touch|inhibition of sensory detection of mechanical stimulus during perception of touch|inhibition of detection of mechanical stimulus involved in sensory perception of touch|down-regulation of perception of touch, detection of mechanical stimulus|down regulation of sensory detection of mechanical stimulus during perception of touch|inhibition of sensory transduction of mechanical stimulus during perception of touch|inhibition of perception of touch, detection of mechanical stimulus|negative regulation of perception of touch, sensory transduction of mechanical stimulus|downregulation of perception of touch, sensory transduction of mechanical stimulus|negative regulation of tactition, sensory detection of mechanical stimulus|downregulation of perception of touch, detection of mechanical stimulus|negative regulation of perception of touch, detection of mechanical stimulus|down-regulation of sensory detection of mechanical stimulus during perception of touch|downregulation of sensory detection of mechanical stimulus during perception of touch|downregulation of tactition, sensory detection of mechanical stimulus|down regulation of perception of touch, sensory detection of mechanical stimulus|down-regulation of perception of touch, sensory transduction of mechanical stimulus|down regulation of perception of touch, sensory transduction of mechanical stimulus owl:Class GO:0031645 biolink:NamedThing negative regulation of nervous system process Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. tmpte7i6ely_mondo_relaxed.owl negative regulation of neurological process|downregulation of neurological process|negative regulation of neurophysiological process|down-regulation of neurological process|inhibition of neurological process|negative regulation of neurological system process|down regulation of neurological process owl:Class MONDO:0009194 biolink:NamedThing immunodeficiency 32B A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV. tmpte7i6ely_mondo_relaxed.owl IRF8 deficiency, autosomal recessive|immunodeficiency 32B|monocyte and dendritic cell deficiency, autosomal recessive|chronic EBV infection syndrome|chronic Epstein-Barr virus infection syndrome|IMD32B|chronic active Epstein-Barr virus infection|CAEBV syndrome|CEBV|CAEBV infection|Epstein-Barr VIRUS, susceptibility to chronic infection by|chronic active Epstein-Barr disease|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive ICD10:B27.0|OMIM:226990|OMIM:614894|GARD:0009534|Orphanet:2566 https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection owl:Class UBERON:0011574 biolink:NamedThing mesonephric duct lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005082 biolink:NamedThing tube lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003687 biolink:NamedThing endocardium cancer A malignant neoplasm involving the endocardium. tmpte7i6ely_mondo_relaxed.owl malignant tumor of endocardium|malignant endocardial neoplasm|cancer of endocardium|malignant tumor of the endocardium|malignant endocardial tumor|malignant neoplasm of endocardium|endocardium cancer|malignant endocardium neoplasm|malignant neoplasm of the endocardium DOID:5877|SCTID:363436001|SCTID:126731002|NCIT:C5346|UMLS:C0346612|NCIT:C4570|UMLS:C1290401 owl:Class MONDO:0000710 biolink:NamedThing gastroduodenal Crohn disease An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite. tmpte7i6ely_mondo_relaxed.owl gastroduodenal Crohn's disease|upper GI Crohn's disease ICD10:K50.0|DOID:0060191 owl:Class MONDO:0004627 biolink:NamedThing duodenitis Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. tmpte7i6ely_mondo_relaxed.owl hemorrhagic duodenitis|duodenitis|duodenum inflammation|inflammation of duodenum SCTID:72007001|DOID:8643|UMLS:C0013298|ICD9:535.60|NCIT:C94409|MESH:D004382|ICD9:535.6|ICD10:K29.8 owl:Class GO:0150074 biolink:NamedThing positive regulation of protein-glutamine gamma-glutamyltransferase activity Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0019020 biolink:NamedThing extrahepatic cholangiocyte An epithelial cell of the extrahepatic bile ducts, including the left and right hepatic duct, common hepatic duct, and common bile duct. They are columnar in shape, and have a large nuclear-to-cytoplasmic ratio relative to small/intrahepatic cholangiocytes. tmpte7i6ely_mondo_relaxed.owl large bile duct cholangiocyte 2020-09-03 12:24:24+00:00 owl:Class CL:1000488 biolink:NamedThing cholangiocyte An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. tmpte7i6ely_mondo_relaxed.owl epithelial cell of bile duct FMA:86481 cell owl:Class GO:0002760 biolink:NamedThing positive regulation of antimicrobial humoral response Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. tmpte7i6ely_mondo_relaxed.owl upregulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|up regulation of antimicrobial humoral response|up-regulation of antimicrobial humoral response|activation of antimicrobial humoral response owl:Class UBERON:0005088 biolink:NamedThing sebaceous gland placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019346 biolink:NamedThing sialidosis type 1 Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. tmpte7i6ely_mondo_relaxed.owl cherry-red spot-myoclonus syndrome|myoclonus cherry red spot syndrome|cherry red spot myoclonus syndrome|lipomucopolysaccharidosis|normosomatic sialidosis|sialidosis type I|Normomorphic sialidosis OMIM:256550|UMLS:CN206021|GARD:0007639|UMLS:C0023806|SCTID:34960006|ICD10:E77.1|Orphanet:812 owl:Class MONDO:0017734 biolink:NamedThing sialidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. tmpte7i6ely_mondo_relaxed.owl MedDRA:10058800|SCTID:38795005|ICD10:E77.1|Orphanet:309294 owl:Class MONDO:0013849 biolink:NamedThing microcephaly 8, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene. tmpte7i6ely_mondo_relaxed.owl CEP135 autosomal recessive primary microcephaly|microcephaly 8, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP135|MCPH8 Orphanet:2512|UMLS:C3553414|DOID:0070282|OMIM:614673 owl:Class MONDO:0016660 biolink:NamedThing autosomal recessive primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. tmpte7i6ely_mondo_relaxed.owl true microcephaly|microcephaly, primary autosomal recessive|MCPH|microcephaly vera|microcephaly, primary, autosomal recessive|microcephalia vera ICD10:Q02|Orphanet:2512|OMIM:604317|OMIM:604804|OMIM:616080|OMIM:616486|OMIM:604321|OMIMPS:251200|OMIM:615414|OMIM:603802|MESH:C579935|OMIM:614852|OMIM:608716|OMIM:617090|SCTID:715981004|OMIM:616681|DOID:0070296|OMIM:612703|OMIM:608393|UMLS:C3711387|OMIM:251200|OMIM:616402|GARD:0012117|OMIM:614673 https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly owl:Class MONDO:0021953 biolink:NamedThing tuberculous fibrosis of lung Scarring of the lung parenchyma caused by pulmonary tuberculosis. tmpte7i6ely_mondo_relaxed.owl tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung|Tuberculous fibrosis of lung ICD9:011.40|UMLS:C0041336|ICD9:011.43|ICD9:011.44|ICD9:011.42|ICD9:011.41|NCIT:C35088|ICD9:011.46|SCTID:90117007 owl:Class MONDO:0006052 biolink:NamedThing pulmonary tuberculosis A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. tmpte7i6ely_mondo_relaxed.owl lung tuberculosis|pulmonary TB|lung TB ICD9:011.9|NCIT:C26899|SCTID:154283005|MESH:D014397|ICD9:011.92|ICD9:011.96|ICD9:011.81|EFO:1000049|ICD9:011.16|ICD9:011.84|ICD9:011.85|ICD9:011.86|ICD9:011|ICD10:A15|ICD10:A15.0|UMLS:C0041327|ICD9:011.90|ICD9:011.80|DOID:2957 owl:Class OBO:CHR_9606-chr1p36 biolink:NamedThing 1p36 (Human) tmpte7i6ely_mondo_relaxed.owl 27600000 0 hg38 owl:Class MONDO:0013947 biolink:NamedThing young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. tmpte7i6ely_mondo_relaxed.owl dSMA5|DSMA5|spinal muscular atrophy, distal, autosomal recessive, type 5|spinal muscular atrophy, distal, autosomal recessive, 5|Young adult-onset dHMN|autosomal recessive distal spinal muscular atrophy type 5 OMIM:614881|UMLS:C3553989|ICD10:G12.2|Orphanet:314485 owl:Class MONDO:0015363 biolink:NamedThing autosomal recessive distal hereditary motor neuropathy Autosomal recessive form of distal hereditary motor neuropathy. tmpte7i6ely_mondo_relaxed.owl distal hereditary motor neuropathy, autosomal recessive|autosomal recessive distal spinal muscular atrophy|autosomal recessive dHMN|autosomal recessive dSMA ICD10:G12.2|Orphanet:140468|UMLS:CN228931|DOID:0111197 owl:Class HGNC:10993 biolink:NamedThing SLC26A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4944 biolink:NamedThing HLA-DQB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008816 biolink:NamedThing Chiari malformation type II Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. tmpte7i6ely_mondo_relaxed.owl Arnold Chiari malformation type II|Arnold-Chiari malformation|Chiari malformation type 2|Chiari malformation type II|Arnold-Chiari malformation type 2|Arnold-Chiari malformation type II|Cm2|Chiari type II malformation Orphanet:1136|ICD10:Q07.0|OMIM:207950|MedDRA:10056945|SCTID:373587001|GARD:0009232 owl:Class MONDO:0007842 biolink:NamedThing Ehlers-Danlos syndrome type 11 Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. tmpte7i6ely_mondo_relaxed.owl familial joint laxity|familial Joint instability syndrome|EDS Xi, formerly|articular hypermobility syndrome|familial joint instability syndrome|EDS Xi|EDS11|Ehlers-Danlos syndrome, type Xi|EDS 11 (formerly)|Ehlers-Danlos syndrome, type 11 (formerly)|Ehlers-Danlos syndrome, type Xi, formerly|EDS11, formerly|Joint instability syndrome|JOINT laxity, familial|EDS XI ICD10:Q79.6|MESH:C535884|UMLS:C0268349|OMIM:147900|Orphanet:2295|GARD:0003054|SCTID:71322004 owl:Class GO:0045618 biolink:NamedThing positive regulation of keratinocyte differentiation Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|upregulation of keratinocyte differentiation|activation of keratinocyte differentiation|up regulation of keratinocyte differentiation owl:Class GO:2000858 biolink:NamedThing regulation of aldosterone secretion Any process that modulates the frequency, rate or extent of aldosterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000855 biolink:NamedThing regulation of mineralocorticoid secretion Any process that modulates the frequency, rate or extent of mineralocorticoid secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009437 biolink:NamedThing Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. tmpte7i6ely_mondo_relaxed.owl hypothyroidism-cleft palate syndrome|Bamforth syndrome|Bamforth-Lazarus syndrome|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate|hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate Orphanet:1226|ICD10:E03.1|GARD:0000414|OMIM:241850|DOID:0050655|SCTID:722375007|MESH:C537901 owl:Class MONDO:0100096 biolink:NamedThing COVID-19 A disease caused by infection with severe acute respiratory syndrome coronavirus 2. tmpte7i6ely_mondo_relaxed.owl β-coronavirus|severe acute respiratory syndrome coronavirus 2|2019 novel coronavirus infection|beta-CoV|β-CoV|SARS-CoV-2|2019 novel coronavirus|beta-CoVs|SARS-coronavirus 2|coronavirus disease 2019|2019-nCoV|severe acute respiratory syndrome coronavirus 2 infectious disease|2019-nCoV infection|β-CoVs|betacoronavirus ICD11:RA01.0|MESH:C000657245|ICD10:U07.1|ICD10:U07.2|SCTID:840539006|ICD11:RA01.2|DOID:0080600|MESH:D000086382 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020753 biolink:NamedThing Orthocoronavirinae infectious disease Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19. tmpte7i6ely_mondo_relaxed.owl coronavirus infectious disease DOID:0080599 owl:Class MONDO:0007614 biolink:NamedThing congenital fibrosis of extraocular muscles tmpte7i6ely_mondo_relaxed.owl CFEOM1|blepharoptosis with absent eye movements|Feom1 locus|fibrosis of extraocular muscles, congenital, 3B|Tukel syndrome|ophthalmoplegia, congenital|fibrosis of extraocular muscles, congenital|congenital fibrosis of the extraocular muscles|fibrosis of extraocular muscles, congenital, 1|fibrosis of extraocular muscles, congenital, type 1|FEOM UMLS:CN043677|UMLS:C1302995|ICD9:728.2|OMIM:600638|OMIM:609612|Orphanet:45358|SCTID:400946004|GARD:0012590|OMIM:602078|OMIM:616219|ICD10:H49.8|OMIM:609384|DOID:0080143|OMIM:135700|OMIMPS:135700|OMIM:609428 owl:Class MONDO:0004746 biolink:NamedThing myopathy of extraocular muscle A myopathy that involves the extra-ocular muscle. tmpte7i6ely_mondo_relaxed.owl myopathy of extra-ocular muscle|extra-ocular muscle myopathy|myopathy of extraocular muscles UMLS:C0155286|ICD9:376.82|SCTID:57130002|DOID:929|ICD10:H05.82 owl:Class GO:0032104 biolink:NamedThing regulation of response to extracellular stimulus Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004304 biolink:NamedThing mixed cell type adenoma of parathyroid A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). tmpte7i6ely_mondo_relaxed.owl parathyroid gland mixed cell type adenoma|mixed cell type adenoma of parathyroid gland|parathyroid mixed cell type adenoma|mixed cell type adenoma of the parathyroid gland|mixed cell type adenoma of the parathyroid|mixed cell type adenoma of parathyroid NCIT:C7994|DOID:7610|UMLS:C0279701 owl:Class MONDO:0006890 biolink:NamedThing parathyroid gland adenoma A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. tmpte7i6ely_mondo_relaxed.owl adenoma of parathyroid|adenoma of the parathyroid gland|adenoma of the parathyroid|parathyroid adenoma|adenoma of parathyroid gland|parathyroid gland adenoma EFO:1001087|DOID:7608|NCIT:C3916|UMLS:C0262587|HP:0002897|SCTID:128474007|MedDRA:10033940 owl:Class GO:0070125 biolink:NamedThing mitochondrial translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl mitochondrial translation elongation owl:Class GO:0006414 biolink:NamedThing translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. tmpte7i6ely_mondo_relaxed.owl protein synthesis elongation|translation elongation owl:Class GO:0016778 biolink:NamedThing diphosphotransferase activity Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016772 biolink:NamedThing transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009566 biolink:NamedThing intestinal submucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018257 biolink:NamedThing submucosa of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411433 biolink:NamedThing shellfish The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001293 biolink:NamedThing shellfish food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017814 biolink:NamedThing primary bone lymphoma A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. tmpte7i6ely_mondo_relaxed.owl lymphoma of the bone|lymphoma of bone tissue|primary lymphoma of bone|lymphoma of bone|primary lymphoma of the bone|bone tissue lymphoma|bone lymphoma ICD10:C85,7|SCTID:766935007|NCIT:C6620|UMLS:C1332582|Orphanet:314684|DOID:6759|ICD10:C85.7 MONDO:0003986 owl:Class MONDO:0009933 biolink:NamedThing congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. tmpte7i6ely_mondo_relaxed.owl lymphangiectasia, pulmonary, congenital|lymphangiectasia pulmonary congenital|lymphangiomatosis, pulmonary|CPL|pulmonary lymphangiomatosis|pulmonary cystic lymphangiectasis|lymphangiomatosis pulmonary|congenital pulmonary lymphangiectasis NCIT:C99034|Orphanet:2414|SCTID:45142002|OMIM:265300|MESH:C537727|GARD:0009900|ICD10:Q33.8|UMLS:C1849554 https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia owl:Class MONDO:0019175 biolink:NamedThing primary lymphedema A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. tmpte7i6ely_mondo_relaxed.owl primary lymphedema|Troncular lymphatic malformation NCIT:C48829|ICD10:I89.0|Orphanet:77240 owl:Class MONDO:0017763 biolink:NamedThing disorder of iron metabolism and transport tmpte7i6ely_mondo_relaxed.owl Orphanet:309842|ICD10:E83.1|UMLS:CN227206 owl:Class MONDO:0013410 biolink:NamedThing 46,XY sex reversal 6 tmpte7i6ely_mondo_relaxed.owl 46,XY SEX reversal 6|46,XY Sex reversal type 6|46,XY sex reversal 6|46,XY Sex reversal, partial or complete, Map3K1-related|SRXY6|46,XY gonadal dysgenesis, partial or complete, Map3K1-related Orphanet:251510|DOID:0111769|Orphanet:242|OMIM:613762|UMLS:C3151064 owl:Class MONDO:0018645 biolink:NamedThing IgG4-related sclerosing cholangitis tmpte7i6ely_mondo_relaxed.owl SCTID:722870008|UMLS:C4302109|ICD10:K83.0|Orphanet:447764 owl:Class MONDO:0000588 biolink:NamedThing autoimmune disorder of gastrointestinal tract A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system. tmpte7i6ely_mondo_relaxed.owl autoimmune disease of alimentary part of gastrointestinal system|alimentary part of gastrointestinal system autoimmune disease|alimentary part of gastrointestinal system hypersensitivity reaction type II disease DOID:0060031 owl:Class CL:0000006 biolink:NamedThing neuronal receptor cell tmpte7i6ely_mondo_relaxed.owl neuronal receptor cell (sensu Animalia) cell owl:Class CL:0000197 biolink:NamedThing sensory receptor cell A cell that is capable of detection of a stimulus involved in sensory perception. tmpte7i6ely_mondo_relaxed.owl receptor cell cell owl:Class MONDO:0012091 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 32 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3. tmpte7i6ely_mondo_relaxed.owl CDC14A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 105|DFNB32|autosomal recessive nonsyndromic deafness 32|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|deafness, autosomal recessive 32|DFNB105|autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness type 32|autosomal recessive nonsyndromic deafness 105|autosomal recessive nonsyndromic deafness type 105|deafness, autosomal recessive type 105|autosomal recessive deafness 32 ICD10:H90.3|DOID:0110466|OMIM:608653|UMLS:C4310777|MESH:C563884|DOID:0110491|UMLS:C1837608 owl:Class MONDO:0018445 biolink:NamedThing global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome tmpte7i6ely_mondo_relaxed.owl glow syndrome Orphanet:404476|ICD10:Q87.3|UMLS:CN226190 owl:Class MONDO:0017891 biolink:NamedThing inherited renal cancer-predisposing syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN203941|Orphanet:319328 owl:Class UBERON:0005563 biolink:NamedThing trigeminal neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100349 biolink:NamedThing COACH syndrome A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability. tmpte7i6ely_mondo_relaxed.owl cerebellar vermis hypoplasia, oligophrenia, ataxia, colobomas, and hepatic fibrosis OMIM:216360|SCTID:721847002|OMIM:619111|OMIM:619113 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0000606 biolink:NamedThing Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. tmpte7i6ely_mondo_relaxed.owl Abnormality of the region around the eye socket|Abnormality of the region around the eye|Deformity of the periorbital region|Anomaly of the periorbital region|Malformation of the periorbital region UMLS:C4025837 human_phenotype owl:Class HP:0000271 biolink:NamedThing Abnormality of the face An abnormality of the face. tmpte7i6ely_mondo_relaxed.owl Anomaly of the face|Disorder of the face|Disorder of face|Facial abnormality|Anomaly of face|Abnormality of the countenance|Facial anomaly|Abnormality of the face|Abnormality of the physiognomy|Abnormal face|Abnormality of the visage SNOMEDCT_US:32003007|SNOMEDCT_US:398302004|SNOMEDCT_US:398206004|UMLS:C0266617|UMLS:C4025871|UMLS:C1290857|SNOMEDCT_US:118930001 human_phenotype owl:Class UBERON:0000460 biolink:NamedThing major vestibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011826 biolink:NamedThing vestibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009550 biolink:NamedThing renal hypomagnesemia 3 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. tmpte7i6ely_mondo_relaxed.owl hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|renal hypomagnesemia type 3|isolated renal hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|HOMG3|hypomagnesemia, isolated renal|primary hypomagnesemia caused by mutation in CLDN16|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|familial primary hypomagnesemia caused by mutation in CLDN16|hypomagnesemia 3, renal|FHHNC without severe ocular involvement|primary hypomagnesemia due to defect in renal tubular transport of magnesium|CLDN16 primary hypomagnesemia|CLDN16 familial primary hypomagnesemia|hypercalciuria, childhood, self-limiting|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|magnesium, defect in renal tubular transport of MESH:C537153|OMIM:248250|SCTID:725033008|ICD10:E83.4|DOID:0060880|Orphanet:31043 owl:Class MONDO:0017624 biolink:NamedThing familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). tmpte7i6ely_mondo_relaxed.owl Michellis-Castrillo syndrome|FHHNC ICD10:E83.4|GARD:0009891|UMLS:CN203511|Orphanet:306516 https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis owl:Class MONDO:0009210 biolink:NamedThing congenital factor V deficiency Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. tmpte7i6ely_mondo_relaxed.owl hereditary hypoproaccelerinaemia|Owren Parahemophilia|deficiency, labile|Owren disease|factor 5 deficiency|Proaccelerin deficiency|labile factor deficiency|hereditary Factor V deficiency|labile Factor deficiency|factor V deficiency|Parahemophilia|congenital factor V deficiency|hereditary factor V deficiency NCIT:C98938|GARD:0002237|DOID:2216|UMLS:C0015499|Orphanet:326|SCTID:88776002|ICD10:D68.2|MedDRA:10048930|MESH:D005166|OMIM:227400 https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency owl:Class UBERON:0010027 biolink:NamedThing dorsal part of pharyngeal pouch 4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015833 biolink:NamedThing foregut epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017555 biolink:NamedThing radio-ulnar synostosis, bilateral tmpte7i6ely_mondo_relaxed.owl radio-ulnar fusion, bilateral Orphanet:295219|ICD10:Q74.0|UMLS:CN203291 owl:Class MONDO:0017985 biolink:NamedThing congenital radioulnar synostosis Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. tmpte7i6ely_mondo_relaxed.owl radioulnar fusion|radioulnar synostosis (disease)|radioulnar synostosis|radial-ulnar synostosis|radio-ulnar synostosis type 1|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radio-ulnar synostosis GARD:0010876|Orphanet:3269|HP:0002974|MESH:C562408|GARD:0004630|ICD9:755.53|ICD10:Q74.0|DOID:9827|OMIM:179300|SCTID:33313004 owl:Class MONDO:0022733 biolink:NamedThing choreoacanthocytosis amyotrophic tmpte7i6ely_mondo_relaxed.owl GARD:0001306 https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic owl:Class HGNC:18713 biolink:NamedThing GLCCI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012270 biolink:NamedThing Tukel syndrome tmpte7i6ely_mondo_relaxed.owl Tukel syndrome|congenital extraocular muscle fibrosis with ulnar hand anomalies|Cfeom-U|fibrosis of extraocular muscles, congenital, 4|fibrosis of extraocular muscles, congenital, with ulnar hand anomalies OMIM:609428|UMLS:C1836217|GARD:0009814|Orphanet:45358 owl:Class MONDO:0003227 biolink:NamedThing prosopagnosia Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. tmpte7i6ely_mondo_relaxed.owl face blindness|prosopagnosia|prosopagnosia (disease) prosopagnosia (disease) NCIT:C85031|DOID:4970|HP:0010528|ICD10:R48.3 owl:Class MONDO:0005638 biolink:NamedThing agnosia A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes. tmpte7i6ely_mondo_relaxed.owl primary visual agnosia|visual amnesia|dyspraxia (finding)|agnosia|dyspraxia syndrome|Monomodal visual amnesia NCIT:C84542|GARD:0000008|SCTID:68345001|DOID:4090|ICD10:R48.1|MESH:D001072|ICD10:R48.2|MESH:D000377|EFO:0007136 https://rarediseases.info.nih.gov/diseases/8/agnosia owl:Class MONDO:0100443 biolink:NamedThing RDH5-related retinopathy A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina. tmpte7i6ely_mondo_relaxed.owl RDH5 retinopathy|fundus albipunctatus|retinitis punctata albescens|pigmentary retinal dystrophy owl:Class MONDO:0012526 biolink:NamedThing hereditary angioedema type 3 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpte7i6ely_mondo_relaxed.owl HAE 3|hereditary angioneurotic edema type 3|inherited estrogen-dependent angioneurotic edema|Hae with normal C1 inhibitor concentration and function|angioedema, hereditary, type III|HAE3|F12 hereditary angioedema|angioedema, hereditary, type 3|Hae 3|hereditary angioedema caused by mutation in F12|hereditary angioedema with normal C1 inhibitor activity|inherited estrogen-dependent angioedema|hereditary angioedema type 3|estrogen-related Hae|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function|estrogen-sensitive Hae|HAE-III|inherited estrogen-associated angioneurotic edema|inherited estrogen-associated angioedema Orphanet:91378|ICD10:D84.1|ICD9:277.6|SCTID:427167008|OMIM:610618|Orphanet:100054|MESH:D056828 owl:Class MONDO:0033947 biolink:NamedThing hereditary angioedema with normal C1Inh tmpte7i6ely_mondo_relaxed.owl Orphanet:528647 owl:Class MONDO:0009975 biolink:NamedThing reticulum cell sarcoma An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes. tmpte7i6ely_mondo_relaxed.owl sarcoma of reticular cell|reticular cell sarcoma|histiocytic lymphoma|Reticulum cell sarcoma|interdigitating cell sarcoma|reticulosarcoma|large-cell Lymphomas|reticulum cell sarcoma ICD9:200.00|ICD9:200.7|ICD9:200.0|NCIT:C27824|DOID:8538|MedDRA:10038804|Orphanet:86900|EFO:0005287|SCTID:373168002|ICD10:C96.4|OMIM:267730 Editor note: check this owl:Class MONDO:0000612 biolink:NamedThing lymphatic system cancer A malignant neoplasm involving the lymphatic part of lymphoid system tmpte7i6ely_mondo_relaxed.owl lymphatic part of lymphoid system cancer|malignant lymphatic part of lymphoid system neoplasm|cancer of lymphatic part of lymphoid system|malignant neoplasm of lymphatic part of lymphoid system DOID:0060073 owl:Class MONDO:0012635 biolink:NamedThing COG8-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. tmpte7i6ely_mondo_relaxed.owl CDG-IIh|congenital disorder of glycosylation, type IIh|COG8-CDG|COG8-CDG (CDG-IIh)|carbohydrate deficient glycoprotein syndrome type IIh|CDG2H|CDG syndrome type IIh|CDG IIh|congenital disorder of glycosylation type 2h|congenital disorder of glycosylation type IIh DOID:0070260|OMIM:611182|ICD10:E77.8|UMLS:C1970021|SCTID:717774004|GARD:0012411|MESH:C566987|Orphanet:95428 owl:Class MONDO:0013592 biolink:NamedThing nonsyndromic congenital nail disorder 9 tmpte7i6ely_mondo_relaxed.owl NDNC9|anonychia-onycholysis, isolated|nail dysplasia|onychodystrophy|nail disorder, nonsyndromic congenital, 9|nonsyndromic congenital nail disorder type 9 Orphanet:79143|Orphanet:90390|SCTID:87065009|DOID:0080087|UMLS:C3279947|OMIM:614149|ICD9:703.8 owl:Class MONDO:0019577 biolink:NamedThing anonychia-onychodystrophy syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:C1862840|OMIM:614149|OMIM:107000|MESH:C536378|Orphanet:90390|ICD10:Q84.3 owl:Class MONDO:0023155 biolink:NamedThing fibula aplasia complex brachydactyly tmpte7i6ely_mondo_relaxed.owl GARD:0002329 https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly owl:Class UBERON:0000951 biolink:NamedThing rotator muscle of the vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001630 biolink:NamedThing muscle organ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032353 biolink:NamedThing negative regulation of hormone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpte7i6ely_mondo_relaxed.owl downregulation of hormone biosynthetic process|inhibition of hormone biosynthetic process|down-regulation of hormone biosynthetic process|down regulation of hormone biosynthetic process owl:Class GO:0032351 biolink:NamedThing negative regulation of hormone metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpte7i6ely_mondo_relaxed.owl down-regulation of hormone metabolic process|inhibition of hormone metabolic process|negative regulation of hormone metabolism|downregulation of hormone metabolic process|down regulation of hormone metabolic process owl:Class HGNC:10648 biolink:NamedThing AIMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001964 biolink:NamedThing startle response An action or movement due to the application of a sudden unexpected stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050905 biolink:NamedThing neuromuscular process Any process pertaining to the functions of the nervous and muscular systems of an organism. tmpte7i6ely_mondo_relaxed.owl neuromuscular physiological process|neuromotor process owl:Class GO:1905953 biolink:NamedThing negative regulation of lipid localization Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization. tmpte7i6ely_mondo_relaxed.owl downregulation of lipid localisation|negative regulation of lipid localisation|inhibition of lipid localization|downregulation of lipid localization|down-regulation of lipid localization|down regulation of lipid localization|inhibition of lipid localisation|down-regulation of lipid localisation|down regulation of lipid localisation owl:Class GO:1905952 biolink:NamedThing regulation of lipid localization Any process that modulates the frequency, rate or extent of lipid localization. tmpte7i6ely_mondo_relaxed.owl regulation of lipid localisation owl:Class CL:0000570 biolink:NamedThing parafollicular cell A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine. tmpte7i6ely_mondo_relaxed.owl thyroid parafollicular cell|C cell of thyroid gland|clear cell of thyroid gland|C cell|parafollicular cell of thyroid gland FMA:68653|SCTID:176770005 cell owl:Class CL:0000458 biolink:NamedThing serotonin secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). tmpte7i6ely_mondo_relaxed.owl 5-HT secreting cell|5-Hydroxytryptamine secreting cell cell owl:Class MONDO:0041825 biolink:NamedThing bacterial meningitis caused by gram-negative bacteria tmpte7i6ely_mondo_relaxed.owl bacterial meningitis due to gram-negative bacteria|bacterial meningitis caused by gram-negative bacteria|gram-negative bacterial meningitis|meningitis with gram negative bacteria SCTID:425887005|UMLS:C0854215 owl:Class MONDO:0000539 biolink:NamedThing striated muscle rhabdoid tumor A rhabdoid tumor that involves the striated muscle tissue. tmpte7i6ely_mondo_relaxed.owl striated muscle tissue rhabdoid tumor DOID:0050924 owl:Class MONDO:0005864 biolink:NamedThing muscle cancer A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. tmpte7i6ely_mondo_relaxed.owl malignant muscle neoplasm|malignant neoplasm of muscle structure|malignant tumor of the muscle|malignant muscle structure neoplasm|myosarcoma|malignant muscle tumor|malignant neoplasm of the muscle|muscle structure cancer|malignant neoplasm of muscle|cancer of muscle structure|malignant tumor of muscle NCIT:C4883|ICD10:C49|SCTID:363495004|UMLS:C0027095|ICDO:8895/3|ICD9:171.9|EFO:0007384|DOID:4045|UMLS:C0684743 owl:Class MONDO:0008731 biolink:NamedThing familial adrenal hypoplasia with absent pituitary luteinizing hormone tmpte7i6ely_mondo_relaxed.owl familial adrenal hypoplasia with absent pituitary LH|familial adrenal hypoplasia, miniature type|adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone Orphanet:95700|MESH:C565976|ICD10:E27.1|OMIM:202150|UMLS:C1859978 owl:Class UBERON:0001817 biolink:NamedThing lacrimal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010386 biolink:NamedThing immunodeficiency 33 Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene. tmpte7i6ely_mondo_relaxed.owl X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|IMD33|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|NF-kappa B essential modulator deficiency|familial X-linked 1 atypical mycobacteriosis|IKBKG invasive pneumococcal disease, recurrent isolated|immunodeficiency 33, Mycobacteriosis, X-linked|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|immunodeficiency type 33|invasive pneumococcal disease, recurrent isolated, 2|X-linked MSMD due to IKBKG deficiency|atypical Mycobacteriosis, familial, X-linked 1|NEMO deficiency syndrome|invasive pneumococcal disease, recurrent isolated, type 2|X-linked MSMD due to NEMO deficiency|IPD2 Orphanet:319605|OMIM:300636|ICD10:D84.8|GARD:0012915|MESH:C564468|Orphanet:319612|MESH:C567070|UMLS:C1845073|UMLS:C1970879 owl:Class MONDO:0008086 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1A An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1. tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|HSAN 1A|hereditary sensory and autonomic neuropathy type 1A|hereditary sensory and autonomic neuropathy type IA|HSAN1A|neuropathy, hereditary sensory, type 1A|HSN 1A|SPTLC1 hereditary sensory and autonomic neuropathy type 1|neuropathy, hereditary sensory and autonomic, type IA|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A OMIM:162400|DOID:0070152|Orphanet:36386|GARD:0004798 Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). owl:Class MONDO:0018213 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. tmpte7i6ely_mondo_relaxed.owl HSAN1|hereditary sensory and autonomic neuropathy type I|hereditary sensory neuropathy type 1|HSN1|HSAN 1|neuropathy hereditary sensory and autonomic type 1|neuropathy hereditary sensory radicular, autosomal dominant OMIM:613708|OMIM:615632|OMIM:162400|PMID:18348718|GARD:6635|DOID:0070162|Orphanet:36386|SCTID:397734008|ICD10:G60.8|OMIM:613640|GARD:0006635 owl:Class HGNC:16808 biolink:NamedThing UBR1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045830 biolink:NamedThing positive regulation of isotype switching Any process that activates or increases the frequency, rate or extent of isotype switching. tmpte7i6ely_mondo_relaxed.owl upregulation of isotype switching|positive regulation of class switching|stimulation of isotype switching|activation of isotype switching|up regulation of isotype switching|positive regulation of class switch recombination|positive regulation of isotype switch recombination|up-regulation of isotype switching owl:Class GO:0002891 biolink:NamedThing positive regulation of immunoglobulin mediated immune response Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpte7i6ely_mondo_relaxed.owl upregulation of immunoglobulin mediated immune response|stimulation of immunoglobulin mediated immune response|activation of immunoglobulin mediated immune response|up-regulation of immunoglobulin mediated immune response|up regulation of immunoglobulin mediated immune response owl:Class HP:0011420 biolink:NamedThing Age of death The age group when the cessation of life happens. tmpte7i6ely_mondo_relaxed.owl UMLS:C1546180 human_phenotype owl:Class HP:0040006 biolink:NamedThing Mortality/Aging tmpte7i6ely_mondo_relaxed.owl UMLS:C4022499 HPO:skoehler human_phenotype owl:Class UBERON:0011695 biolink:NamedThing embryonic cardiovascular system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12687 biolink:NamedThing VHL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010273 biolink:NamedThing zone of hyoid bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005913 biolink:NamedThing zone of bone organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024308 biolink:NamedThing pseudoxanthoma elasticum (inherited or acquired) An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. tmpte7i6ely_mondo_relaxed.owl PXE|pseudoxanthoma elasticum SCTID:252246005|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0003066 biolink:NamedThing submandibular adenitis Inflammation of the submandibular lymph nodes. tmpte7i6ely_mondo_relaxed.owl lymphadenitis (disease) of submandibular gland|submandibular lymphadenitis|submandibular gland lymphadenitis (disease) UMLS:C0235591|NCIT:C27016|DOID:4636|SCTID:15170009 owl:Class MONDO:0001597 biolink:NamedThing submandibular gland disorder A disease involving the submandibular gland. tmpte7i6ely_mondo_relaxed.owl disease of submandibular gland|disease or disorder of submandibular gland|submandibular gland disease|disorder of submandibular gland|submandibular gland disease or disorder DOID:12897|MESH:D013364|UMLS:C0038557 owl:Class MONDO:0018927 biolink:NamedThing SUNCT syndrome SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). tmpte7i6ely_mondo_relaxed.owl short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|SUNCT headache|short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing NCIT:C85174|MedDRA:10061981|ICD10:G44.8|MESH:D050798|GARD:0009257|Orphanet:57145|SCTID:725058003|UMLS:C1262087 owl:Class MONDO:0015530 biolink:NamedThing trigeminal autonomic cephalalgia A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. tmpte7i6ely_mondo_relaxed.owl ICD10:G44.8|Orphanet:157843|UMLS:C1565172|SCTID:449814007|ICD9:339.09|NCIT:C117074|MESH:D051303 owl:Class MONDO:0037858 biolink:NamedThing inherited fatty acid metabolism disorder A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. tmpte7i6ely_mondo_relaxed.owl fatty acid metabolism disorder|disorder of fatty acid metabolism|inherited fatty acid metabolism disorder|disorder of fat oxidation|disorders of fatty-acid metabolism NCIT:C117115|SCTID:39929009 owl:Class HGNC:2770 biolink:NamedThing DES tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018204 biolink:NamedThing 20q11.2 microduplication syndrome 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. tmpte7i6ely_mondo_relaxed.owl dup(20)(q11.2) UMLS:CN204718|SCTID:763061004|Orphanet:363659|ICD10:Q93.5 owl:Class MONDO:0010725 biolink:NamedThing X-linked retinoschisis A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. tmpte7i6ely_mondo_relaxed.owl juvenile X-linked retinoschisis|X-linked juvenile retinoschisis 1|RS1|XLRS|retinoschisis 1, X-linked, juvenile|retinoschisis X-linked|X-linked retinoschisis|XLRS1|X-linked juvenile retinoschisis|RS|X-linked juvenile retinoschisis type 1|retinoschisis juvenile X chromosome-linked|juvenile retinoschisis|retinoschisis, X-linked|XJR ICD10:Q14.1|OMIM:312700|GARD:0004690|Orphanet:792|SCTID:86923008|NCIT:C75483|DOID:0060763 owl:Class MONDO:0020248 biolink:NamedThing vitreoretinal degeneration tmpte7i6ely_mondo_relaxed.owl degenerative vitreoretinopathy 2022-05-01 SCTID:247182006|HP:0007964|ICD10:H35.5|Orphanet:98670|GARD:0005506|UMLS:C0344290 Reason: out of scope. Term to consider: inherited vitreoretinopathy MONDO:0020248 https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration owl:Class MONDO:0014119 biolink:NamedThing intellectual disability-strabismus syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 36|mental retardation, autosomal recessive type 36|MRT36|mental retardation, autosomal recessive 36|intellectual disability, autosomal recessive type 36 Orphanet:363528|OMIM:615286|ICD10:H50.8|UMLS:C3809039 owl:Class UBERON:0015795 biolink:NamedThing right lung lobar bronchus epitheium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002715 biolink:NamedThing regulation of natural killer cell mediated immunity Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl regulation of NK cell mediated immunity|regulation of natural killer cell activity owl:Class GO:0032277 biolink:NamedThing negative regulation of gonadotropin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin. tmpte7i6ely_mondo_relaxed.owl negative regulation of gonadotrophin secretion|downregulation of gonadotropin secretion|down regulation of gonadotropin secretion|inhibition of gonadotropin secretion|down-regulation of gonadotropin secretion owl:Class GO:0002716 biolink:NamedThing negative regulation of natural killer cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl negative regulation of NK cell activity|down regulation of natural killer cell mediated immunity|negative regulation of NK cell mediated immunity|down-regulation of natural killer cell mediated immunity|negative regulation of natural killer cell activity|inhibition of natural killer cell mediated immunity|downregulation of natural killer cell mediated immunity owl:Class MONDO:0019873 biolink:NamedThing 4p16.3 microduplication syndrome 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. tmpte7i6ely_mondo_relaxed.owl trisomy 4pter|distal trisomy 4p|telomeric duplication 4p|distal duplication 4p SCTID:726706008|ICD10:Q92.3|UMLS:CN206808|Orphanet:96072|UMLS:C4512053 owl:Class UBERON:0002036 biolink:NamedThing striated muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004185 biolink:NamedThing ovarian serous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovary serous cystadenofibroma|ovarian serous cystadenofibroma NCIT:C40032|DOID:7320|UMLS:C0877572 owl:Class MONDO:0006340 biolink:NamedThing ovarian serous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian serous adenofibroma|ovary serous adenofibroma|serous adenofibroma of ovary DOID:5474|NCIT:C40031|EFO:1000428|UMLS:C1518729 owl:Class HGNC:4512 biolink:NamedThing ADGRG1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003441 biolink:NamedThing forelimb nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001021 biolink:NamedThing nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001542 biolink:NamedThing inguinal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008024 biolink:NamedThing neuronopathy, distal hereditary motor, type 7A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. tmpte7i6ely_mondo_relaxed.owl Dhmn7A|SLC5A7 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, type 7A|spinal muscular atrophy, distal, with vocal cord paralysis|Harper-Young myopathy|HMN7A|HMN 7A|Dhmnvp|neuronopathy, distal hereditary motor, type VIIA|neuronopathy, distal hereditary motor caused by mutation in SLC5A7 OMIM:158580|Orphanet:139589|DOID:0111201|UMLS:C1834703|MESH:C563562 owl:Class MONDO:0015355 biolink:NamedThing distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. tmpte7i6ely_mondo_relaxed.owl distal spinal muscular atrophy with vocal cord paralysis|dHMN7 Orphanet:139589|OMIM:158580|DOID:0111199|UMLS:CN199425|OMIM:607641|ICD10:G12.2 owl:Class UBERON:0006650 biolink:NamedThing tunica vaginalis testis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001136 biolink:NamedThing mesothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000487 biolink:NamedThing simple squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002562 biolink:NamedThing somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002200 biolink:NamedThing somatic diversification of immune receptors The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006099 biolink:NamedThing tricarboxylic acid cycle A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. tmpte7i6ely_mondo_relaxed.owl TCA cycle|citric acid cycle|Krebs cycle owl:Class GO:0044238 biolink:NamedThing primary metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpte7i6ely_mondo_relaxed.owl primary metabolism owl:Class MONDO:0005451 biolink:NamedThing eating disorder A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. tmpte7i6ely_mondo_relaxed.owl feeding and eating disorder|eating disorder DOID:8670|ICD10:F50.9|ICD9:307.59|SCTID:72366004|NCIT:C89332|EFO:0005203|ICD10:F50|ICD9:307.50 owl:Class MONDO:0005137 biolink:NamedThing nutritional disorder Any condition related to a disturbance between proper intake and utilization of nourishment. tmpte7i6ely_mondo_relaxed.owl nutritional disorder|nutrition disease ICD9:783.9|EFO:0001069|UMLS:C3714509|SCTID:2492009|NCIT:C26836|DOID:374|MESH:D009748 owl:Class GO:0046137 biolink:NamedThing negative regulation of vitamin metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl downregulation of vitamin metabolic process|down regulation of vitamin metabolic process|negative regulation of vitamin metabolism|down-regulation of vitamin metabolic process|inhibition of vitamin metabolic process owl:Class MONDO:0013928 biolink:NamedThing dystonia 23 Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene. tmpte7i6ely_mondo_relaxed.owl adult-onset cervical dystonia, DYT23 type|DYT23|dystonia type 23|dystonia 23|dystonic disorder caused by mutation in CACNA1B|CACNA1B dystonic disorder ICD10:G24.8|OMIM:614860|UMLS:C3538999|Orphanet:420492|DOID:0090051 owl:Class HGNC:7675 biolink:NamedThing NDN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014907 biolink:NamedThing intersomitic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033853 biolink:NamedThing congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:521432 owl:Class MONDO:0020574 biolink:NamedThing central nervous system nongerminomatous germ cell tumor Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl central nervous system nongerminomatous germ cell tumor|nongerminomatous germ cell tumor of the CNS|nongerminomatous GCT - CNS NCIT:C100093|UMLS:C1696109 owl:Class MONDO:0012031 biolink:NamedThing platelet-type bleeding disorder 10 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene. tmpte7i6ely_mondo_relaxed.owl platelet glycoprotein 4 deficiency|bleeding disorder, Platelet-type, 10|inherited bleeding disorder, platelet-type caused by mutation in CD36|CD36 deficiency|CD36 inherited bleeding disorder, platelet-type|BDPLT10|platelet glycoprotein IV deficiency|platelet-type bleeding disorder 10 OMIM:608404|UMLS:C1842090|MESH:C564245|DOID:0111046 owl:Class MONDO:0005609 biolink:NamedThing herpes zoster A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. tmpte7i6ely_mondo_relaxed.owl herpes Zoster|herpes zona|Zoster|postherpetic neuralgia|shingles UMLS:C0019360|EFO:0006510|ICD9:053|SCTID:4740000|NCIT:C71079|ICD10:B02|ICD10:B02.9|DOID:8536|MESH:D006562 owl:Class MONDO:0009729 biolink:NamedThing nephropathy - deafness - hyperparathyroidism syndrome Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl nephropathy - deafness - hyperparathyroidism|Edwards-Patton-Dilly syndrome|nephropathy, deafness, and hyperparathyroidism|Edwards Patton Dilly syndrome GARD:0003940|SCTID:724093004|ICD10:Q87.8|OMIM:256120|MESH:C536401|Orphanet:2668|UMLS:C1850553 https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism owl:Class MONDO:0019756 biolink:NamedThing lobar holoprosencephaly Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally. tmpte7i6ely_mondo_relaxed.owl OMIM:157170|ICD10:Q04.2|OMIM:609637|OMIM:610829|SCTID:253136007|Orphanet:93924 owl:Class MONDO:0011671 biolink:NamedThing Huntington disease-like 2 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities. tmpte7i6ely_mondo_relaxed.owl HDL2|Huntington disease-like 2|Huntington disease-like type 2|Huntington's disease-like 2 MESH:C564708|SCTID:721228006|DOID:0090104|ICD10:G10|OMIM:606438|UMLS:C1847987|Orphanet:98934 owl:Class MONDO:0016987 biolink:NamedThing neuroacanthocytosis Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. tmpte7i6ely_mondo_relaxed.owl neuroacanthocytosis syndrome GARD:0010902|DOID:0050765|NCIT:C84926|Orphanet:263440 owl:Class MONDO:0044305 biolink:NamedThing ectodermal dysplasia 13, hair/tooth type tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia 13, hair/tooth type|ECTD13 DOID:0111650|UMLS:C4479322|OMIM:617392 owl:Class MONDO:0008411 biolink:NamedThing ulnar-mammary syndrome Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described. tmpte7i6ely_mondo_relaxed.owl ulnar-mammary syndrome|ulnar-mammary syndrome of Pallister|ums|Schinzel syndrome|Pallister ulnar-mammary syndrome GARD:0000118|Orphanet:3138|ICD10:Q71.8|OMIM:181450|UMLS:C1866994|SCTID:700211007|DOID:0060614|ICD9:759.89|MESH:C536937 https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome owl:Class CHEBI:33658 biolink:NamedThing arene Any monocyclic or polycyclic aromatic hydrocarbon. tmpte7i6ely_mondo_relaxed.owl aromatic hydrocarbons|arene|arenes owl:Class CHEBI:33663 biolink:NamedThing cyclic hydrocarbon tmpte7i6ely_mondo_relaxed.owl cyclic hydrocarbons|cyclic hydrocarbon owl:Class UBERON:0007794 biolink:NamedThing secretion of serous gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006314 biolink:NamedThing bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. tmpte7i6ely_mondo_relaxed.owl fluid|body fluid owl:Class MONDO:0007770 biolink:NamedThing hyperpigmentation of Fuldauer and Kuijpers tmpte7i6ely_mondo_relaxed.owl hyperpigmentation of Fuldauer and Kuijpers OMIM:145200|UMLS:C1840393|MESH:C564164 owl:Class MONDO:0001856 biolink:NamedThing splenic artery aneurysm tmpte7i6ely_mondo_relaxed.owl ICD9:442.83|DOID:14006|UMLS:C0155747|SCTID:70405009 owl:Class MONDO:0005459 biolink:NamedThing human African trypanosomiasis A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. tmpte7i6ely_mondo_relaxed.owl African trypanosomiasis|sleeping sickness|Africam sleeping sickness|African sleeping sickness DOID:10112|Orphanet:3385|ICD10:B56.1|KEGG:05143|ICD10:B56.9|ICD9:086.5|SCTID:78940002|ICD10:B56.0|EFO:0005225|UMLS:C0041228|NCIT:C84541|MedDRA:10001461|GARD:0007826|MESH:D014353|SCTID:27031003|ICD10:B56 MONDO:0018073 owl:Class MONDO:0018672 biolink:NamedThing IgG4-related aortitis tmpte7i6ely_mondo_relaxed.owl IgG4-related periaortitis Orphanet:449400|ICD10:I77.6 owl:Class MONDO:0010283 biolink:NamedThing syndromic X-linked intellectual disability Lubs type Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic, Lubs type|intellectual disability, X-linked, with recurrent respiratory infections|mental retardation, X-linked, Lubs type (formerly)|mental retardation, X-linked, with recurrent respiratory infections|Lubs X-linked mental retardation syndrome (formerly)|intellectual disability, X-linked, Lubs type (formerly)|Lubs X-linked intellectual disability syndrome|trisomy Xq28|MECP2 Duplication syndrome|XLMR syndrome, Lubs type|MECP2 duplication syndrome|telomeric duplication Xq|Lubs X-linked intellectual disability syndrome (formerly)|distal duplication Xq|MRXSL|X-linked intellectual disability-hypotonia-recurrent infections syndrome|syndromic X-linked intellectual disability Lubs type|Lubs X-linked mental retardation syndrome|intellectual disability, X-linked, syndromic, Lubs type NCIT:C126747|Orphanet:1762|OMIM:300815|UMLS:C1846058|SCTID:702816000|ICD10:Q87.8|MESH:C537723|DOID:0060799|ICD10:Q99.8|OMIM:300260|ICD9:758.89|GARD:0009781 owl:Class MONDO:0002579 biolink:NamedThing orbit embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. tmpte7i6ely_mondo_relaxed.owl embryonal rhabdomyosarcoma of orbit|embryonal rhabdomyosarcoma of the orbit UMLS:C1335127|NCIT:C6246|DOID:3258 owl:Class GO:0099578 biolink:NamedThing regulation of translation at postsynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099547 biolink:NamedThing regulation of translation at synapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031401 biolink:NamedThing positive regulation of protein modification process Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpte7i6ely_mondo_relaxed.owl activation of protein modification|upregulation of protein modification|up-regulation of protein modification|stimulation of protein modification|up regulation of protein modification owl:Class GO:0003032 biolink:NamedThing detection of oxygen The series of events in which an oxygen stimulus is received by a cell and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070482 biolink:NamedThing response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017437 biolink:NamedThing amelia of upper limb A non-syndromic amelia that involves the forelimb. tmpte7i6ely_mondo_relaxed.owl forelimb non-syndromic amelia|non-syndromic amelia of forelimb Orphanet:294967|HP:0009812|SCTID:205306000|ICD10:Q71.0 owl:Class MONDO:0017419 biolink:NamedThing non-syndromic amelia A congenital malformation characterized by the complete absence of all limbs. tmpte7i6ely_mondo_relaxed.owl isolated amelia|nonsyndromic amelia|amelia NCIT:C34370|SCTID:62588002|Orphanet:294925|ICD10:Q73.0|HP:0009827|MedDRA:10001926 owl:Class HGNC:5870 biolink:NamedThing IGLL1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051346 biolink:NamedThing negative regulation of hydrolase activity Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpte7i6ely_mondo_relaxed.owl down regulation of hydrolase activity|hydrolase inhibitor|downregulation of hydrolase activity|down-regulation of hydrolase activity|inhibition of hydrolase activity owl:Class MONDO:0006361 biolink:NamedThing penile fibromatosis Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect. tmpte7i6ely_mondo_relaxed.owl penile induration|penis fibromatosis|Peyronie's disease|Peyronie's fibromatosis|penile fibromatosis NCIT:C3316|EFO:1000466 owl:Class MONDO:0005031 biolink:NamedThing fibromatosis A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. tmpte7i6ely_mondo_relaxed.owl fibromatosis SCTID:723976005|EFO:0000497|GARD:0006439|NCIT:C3042|OMIM:135290 owl:Class UBERON:0010528 biolink:NamedThing pneumatic cavity of bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010527 biolink:NamedThing cavity of bone organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012408 biolink:NamedThing microphthalmia, isolated, with coloboma 3 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia, cataracts, and iris abnormalities|microphthalmia, colobomatous, isolated 3|microphthalmia, isolated, with coloboma caused by mutation in VSX2|microphthalmia, isolated, with coloboma type 3|microphthalmia, isolated, with coloboma 3|MCOPCB3|VSX2 microphthalmia, isolated, with coloboma OMIM:610092|Orphanet:98938|UMLS:C1864721 owl:Class MONDO:0012409 biolink:NamedThing isolated microphthalmia 2 Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. tmpte7i6ely_mondo_relaxed.owl isolated microphthalmia caused by mutation in VSX2|VSX2 isolated microphthalmia|microphthalmia, isolated 2|isolated microphthalmia type 2|MCOP2|microphthalmia, isolated type 2|anophthalmia, clinical, isolated ICD10:Q11.0|DOID:0060839|UMLS:C1864720|MESH:C566446|OMIM:610093|Orphanet:2542 owl:Class MONDO:0019040 biolink:NamedThing chromosomal disorder Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) tmpte7i6ely_mondo_relaxed.owl chromosomal disorders|disorder, chromosome abnormality|chromosome disorders, autosomal|disorders, chromosome|autosomal chromosome disorder|autosomal chromosome disorders|disorder, chromosome|chromosome disorder, autosomal|disorders, chromosomal|chromosomal disorder|chromosome abnormality disorder|chromosome abnormality disorders|disorder, chromosomal|chromosome disorder|chromosomal disease SCTID:409709004|MESH:D025063|DOID:0080014|ICD9:758.89|NCIT:C34470|Orphanet:68335 owl:Class UBERON:0010367 biolink:NamedThing conjunctival vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2002260 biolink:NamedThing premaxillary-maxillary joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2001950 biolink:NamedThing inter-premaxillary joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001806 biolink:NamedThing vaginal squamous tumor A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl vagina squamous cell neoplasm|vaginal squamous tumor|vaginal squamous neoplasm DOID:138|UMLS:C1519931|NCIT:C40242 owl:Class MONDO:0002532 biolink:NamedThing squamous cell neoplasm A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. tmpte7i6ely_mondo_relaxed.owl epidermoid cell tumor|epidermoid cell neoplasm|squamous cell tumor (qualifier value)|squamous cell neoplasm|squamous cell tumor DOID:3168|UMLS:C0206720|MESH:D018307|NCIT:C3792 owl:Class MONDO:0004086 biolink:NamedThing ciliary body epithelioid cell melanoma A epithelioid cell melanoma that involves the ciliary body. tmpte7i6ely_mondo_relaxed.owl epithelioid cell melanoma of the ciliary body|ciliary body epithelioid cell melanoma|epithelioid cell melanoma of ciliary body DOID:7042|UMLS:C1333050|NCIT:C6119 owl:Class MONDO:0002973 biolink:NamedThing epithelioid cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes. tmpte7i6ely_mondo_relaxed.owl epithelioid cell malignant melanoma|epithelioid cell melanoma|epithelioid cell melanoma (morphologic abnormality)|epithelioid melanoma NCIT:C4236|DOID:4360|UMLS:C0334443|ICDO:8771/3 owl:Class MONDO:0006271 biolink:NamedThing low grade central osteosarcoma A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma. tmpte7i6ely_mondo_relaxed.owl intraosseous well-differentiated osteosarcoma|low-grade intramedullary osteosarcoma|low grade central osteosarcoma|low grade intramedullary osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low-grade central osteosarcoma NCIT:C6474|UMLS:C1266163|ICDO:9187/3|UMLS:C3814534|ONCOTREE:LGCOS|EFO:1000327 owl:Class MONDO:0009807 biolink:NamedThing osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. tmpte7i6ely_mondo_relaxed.owl osteogenic sarcoma|sarcoma of osteoid|bone tissue neoplasm|osteosarcoma, malignant|osteoid sarcoma|osteosarcoma|osteosarcoma (disease) osteosarcoma (disease) HP:0002669|NCIT:C9145|ICDO:9180/3|SCTID:307576001|DOID:3347|EFO:0000637|ONCOTREE:OS owl:Class MONDO:0012341 biolink:NamedThing celiac disease, susceptibility to, 3 Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene. tmpte7i6ely_mondo_relaxed.owl CTLA4 celiac disease|susceptibility to celiac disease 3|gluten-sensitive enteropathy, susceptibility to, 3|celiac disease caused by mutation in CTLA4|celiac disease, susceptibility to, 3|celiac disease, susceptibility to, type 3|CELIAC3 OMIM:609755 owl:Class HP:0001698 biolink:NamedThing Pericardial effusion Accumulation of fluid within the pericardium. tmpte7i6ely_mondo_relaxed.owl Pericardial effusions|Fluid around heart Fyler:1940|SNOMEDCT_US:373945007|MSH:D010490|UMLS:C0031039 human_phenotype owl:Class HP:0001697 biolink:NamedThing Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. tmpte7i6ely_mondo_relaxed.owl Abnormality of the pericardium UMLS:C4025754|Fyler:1900 human_phenotype owl:Class GO:0014064 biolink:NamedThing positive regulation of serotonin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. tmpte7i6ely_mondo_relaxed.owl stimulation of serotonin secretion|up-regulation of serotonin secretion|activation of serotonin secretion|positive regulation of serotonin release|upregulation of serotonin secretion|up regulation of serotonin secretion owl:Class GO:1903532 biolink:NamedThing positive regulation of secretion by cell Any process that activates or increases the frequency, rate or extent of secretion by cell. tmpte7i6ely_mondo_relaxed.owl upregulation of secretion by cell|activation of secretion by cell|up regulation of cellular secretion|up-regulation of secretion by cell|activation of cellular secretion|up regulation of secretion by cell|upregulation of cellular secretion|up-regulation of cellular secretion|positive regulation of cellular secretion owl:Class FOODON:00001579 biolink:NamedThing alcoholic beverage An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F10770 https://en.m.wikipedia.org/wiki/Alcoholic_drink Damion Dooley owl:Class UBERON:0016530 biolink:NamedThing parietal cortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014813 biolink:NamedThing hypomyelinating leukodystrophy 13 Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, type 13|leukodystrophy caused by mutation in hikeshi|HIKESHI leukodystrophy|leukodystrophy caused by mutation in HIKESHI|leukodystrophy, hypomyelinating, 13|hypomyelinating leukodystrophy type 13|hikeshi leukodystrophy|HLD13 OMIM:616881|DOID:0060795|UMLS:C4225170 owl:Class NCBITaxon:35500 biolink:NamedThing Pecora tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:91561 biolink:NamedThing Artiodactyla tmpte7i6ely_mondo_relaxed.owl even-toed ungulates|whales, hippos, ruminants, pigs, camels etc.|Cetartiodactyla GC_ID:1 ncbi_taxonomy owl:Class CHEBI:90710 biolink:NamedThing receptor modulator A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. tmpte7i6ely_mondo_relaxed.owl receptor modulators owl:Class UBERON:0034721 biolink:NamedThing pharyngeal taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012295 biolink:NamedThing complement component 5 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. tmpte7i6ely_mondo_relaxed.owl complement component 5 deficiency|complement deficiency caused by mutation in C5|C5D|dysfunction of the fifth component of complement (C5)|C5 deficiency|C5 complement deficiency NCIT:C9469|Orphanet:169150|DOID:8158|UMLS:C0343047|GARD:0006878|OMIM:609536 owl:Class MONDO:0015700 biolink:NamedThing immunodeficiency due to a late component of complement deficiency A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection. tmpte7i6ely_mondo_relaxed.owl immunodeficiency due to a C5 to C9 component complement deficiency|deficiency of complement of terminal pathway|immunodeficiency due to C5 to C9 component complement deficiency|terminal complement pathway deficiency OMIM:610102|OMIM:612446|OMIM:609536|OMIM:613790|OMIM:613789|Orphanet:169150|OMIM:613825|ICD10:D84.1 owl:Class MONDO:0016396 biolink:NamedThing pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. tmpte7i6ely_mondo_relaxed.owl PCH1|mental retardation, autosomal recessive 32|MRT32|Norman disease UMLS:C1843504|GARD:0010704|OMIM:616081|MESH:C548069|OMIM:607596|ICD10:Q04.3|OMIM:614678|Orphanet:2254|SCTID:718610008 owl:Class GO:1903789 biolink:NamedThing regulation of amino acid transmembrane transport Any process that modulates the frequency, rate or extent of amino acid transmembrane transport. tmpte7i6ely_mondo_relaxed.owl regulation of amino acid membrane transport owl:Class GO:0034762 biolink:NamedThing regulation of transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl regulation of membrane transport owl:Class MONDO:0001633 biolink:NamedThing central retinal artery occlusion Blockage of the central retinal artery. tmpte7i6ely_mondo_relaxed.owl central retinal arterial occlusion SCTID:38742007|DOID:13098|ICD10:H34.1|ICD9:362.31|UMLS:C0007688|MESH:D015356|NCIT:C34456 owl:Class MONDO:0020673 biolink:NamedThing arterial occlusion Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart. tmpte7i6ely_mondo_relaxed.owl arterial obstruction|arterial occlusion NCIT:C35318 owl:Class MONDO:0001993 biolink:NamedThing seminal vesicle adenocarcinoma A carcinoma that arises from glandular epithelial cells of the seminal vesicle tmpte7i6ely_mondo_relaxed.owl seminal vesicle adenocarcinoma NCIT:C39906|DOID:14545|UMLS:C1519233 owl:Class MONDO:0001551 biolink:NamedThing ulceration of vulva tmpte7i6ely_mondo_relaxed.owl ulceration of vulva|vulvar ulceration DOID:12566|ICD10:N77.0|SCTID:68640004|ICD9:616.51|UMLS:C0156339|ICD10:N76.6|ICD9:616.50 owl:Class MONDO:0002187 biolink:NamedThing vulvar disease A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. tmpte7i6ely_mondo_relaxed.owl vulvar disorder|disorder of vulva|vulvar disease|vulval disorder UMLS:C0042994|SCTID:5089007|DOID:2059|MESH:D014845|NCIT:C27631 owl:Class MONDO:0017879 biolink:NamedThing hantavirus pulmonary syndrome An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. tmpte7i6ely_mondo_relaxed.owl four corners hantavirus|HARDS|Hantavirus|Hantavirus-associated respiratory distress syndrome MedDRA:10019143|EFO:0007296|Orphanet:319247|SCTID:120639003|ICD9:480.8|ICD10:J17.1*|UMLS:C0243025|ICD10:B33.4+|DOID:14472|MESH:D018804|GARD:0000069|NCIT:C84747 owl:Class UBERON:0001731 biolink:NamedThing cavity of pharynx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031641 biolink:NamedThing regulation of myelination Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001912 biolink:NamedThing positive regulation of leukocyte mediated cytotoxicity Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. tmpte7i6ely_mondo_relaxed.owl up regulation of leukocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|activation of leukocyte mediated cytotoxicity|stimulation of leukocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity owl:Class MONDO:0016044 biolink:NamedThing cleft lip/palate Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. tmpte7i6ely_mondo_relaxed.owl cleft lip-alveolus-palate syndrome|FLP|cleft lip and palate|alveolar cleft lip and palate ICD10:Q37.4|OMIM:612858|ICD9:749.25|ICD10:Q37.3|OMIM:602966|OMIM:613705|ICD10:Q37.2|OMIM:129400|SCTID:66948001|OMIM:608874|ICD10:Q37.0|OMIM:600625|ICD10:Q37.1|OMIM:608371|MedDRA:10009260|OMIM:616788|Orphanet:199306|OMIM:600757|ICD10:Q37.8|OMIM:610361|ICD10:Q37.9|OMIM:225060|ICD10:Q37.5|ICD9:749.20|OMIM:608864|OMIM:119530 owl:Class MONDO:0016034 biolink:NamedThing cleft lip with or without cleft palate tmpte7i6ely_mondo_relaxed.owl Tessier cleft number 1,2 ICD10:Q37.8|ICD10:Q36.1|Orphanet:1991|ICD10:Q37.9|ICD10:Q37.5|ICD10:Q37.4|ICD10:Q37.3|ICD10:Q37.2|ICD10:Q37.0|ICD10:Q36.9|ICD10:Q36.0|ICD10:Q37.1 owl:Class MONDO:0044916 biolink:NamedThing extrarenal rhabdoid tumor A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. tmpte7i6ely_mondo_relaxed.owl rhabdoid tumor of soft tissue|malignant extrarenal rhabdoid neoplasm|extrarenal rhabdoid tumor SCTID:404089007|UMLS:C1304517|NCIT:C6586 owl:Class MONDO:0030985 biolink:NamedThing premature ovarian failure 19 tmpte7i6ely_mondo_relaxed.owl POF19|premature ovarian failure 19 OMIM:619245 owl:Class MONDO:0002655 biolink:NamedThing cutaneous Paget disease A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl cutaneous Paget's disease|extramammary Paget's disease|cutaneous Paget disease|zone of skin Paget disease DOID:3450 owl:Class GO:0032024 biolink:NamedThing positive regulation of insulin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. tmpte7i6ely_mondo_relaxed.owl activation of insulin secretion|stimulation of insulin secretion|upregulation of insulin secretion|up-regulation of insulin secretion|up regulation of insulin secretion owl:Class GO:0090277 biolink:NamedThing positive regulation of peptide hormone secretion Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004449 biolink:NamedThing intraductal breast myoepitheliosis A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts. tmpte7i6ely_mondo_relaxed.owl NCIT:C40387|UMLS:C1512935|DOID:8068 owl:Class MONDO:0004262 biolink:NamedThing breast myoepitheliosis A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts. tmpte7i6ely_mondo_relaxed.owl breast myoepitheliosis NCIT:C40385|DOID:7521|UMLS:C1513799 owl:Class GO:0006865 biolink:NamedThing amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003016 biolink:NamedThing respiratory system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. tmpte7i6ely_mondo_relaxed.owl respiratory gaseous exchange owl:Class GO:0003008 biolink:NamedThing system process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. tmpte7i6ely_mondo_relaxed.owl organ system process owl:Class MONDO:0003534 biolink:NamedThing papillary thymic adenocarcinoma A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis. tmpte7i6ely_mondo_relaxed.owl papillary carcinoma of Thymus|thymic papillary adenocarcinoma|thymus papillary adenocarcinoma|papillary carcinoma of the Thymus|thymic papillary carcinoma|Thymus papillary carcinoma DOID:5595|UMLS:C1335327|NCIT:C27937 owl:Class MONDO:0002512 biolink:NamedThing papillary adenocarcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl papillary adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, papillary, malignant|papillary adenocarcinoma (morphologic abnormality)|infiltrating and papillary adenocarcinoma|infiltrating papillary adenocarcinoma|papillary adenocarcinoma DOID:3112|UMLS:C0001420|ICDO:8260/3|MESH:D000231|NCIT:C2853|UMLS:C1321863 owl:Class MONDO:0001119 biolink:NamedThing premature menopause Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. tmpte7i6ely_mondo_relaxed.owl menopause praecox|early menopause|premature ovarian failure|premature menopause|POF|menopause - premature DOID:10787|ICD9:256.39|ICD9:256.31|ICD10:E28.319|NCIT:C80099|MESH:D008594|ICD10:E28.31|SCTID:237788002|UMLS:C0025322 owl:Class MONDO:0001889 biolink:NamedThing ovarian dysfunction The inability of the ovaries to function. tmpte7i6ely_mondo_relaxed.owl ovarian insufficiency|ovarian hypofunction|ovarian failure ICD9:256.3|NCIT:C113351|ICD9:256.8|ICD9:256.39|SCTID:37102008|DOID:1414|EFO:0009003|ICD10:E28|ICD9:256.9 owl:Class MONDO:0018788 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease tmpte7i6ely_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy UMLS:CN776854|Orphanet:477759 owl:Class MONDO:0000474 biolink:NamedThing pericardium disorder A disease involving the pericardium. tmpte7i6ely_mondo_relaxed.owl disorder of pericardium|pericardium disease|pericardium disease or disorder|disease of pericardium|disease or disorder of pericardium SCTID:55855009|UMLS:C0265122|DOID:0050829|ICD9:423.9|ICD9:423.8 owl:Class MONDO:0018065 biolink:NamedThing isolated trigonocephaly Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. tmpte7i6ely_mondo_relaxed.owl non-syndromic metopic craniosynostosis|nonsyndromic trigonocephaly UMLS:CN236409|ICD10:Q75.0|OMIMPS:190440|OMIM:190440|OMIM:614485|Orphanet:3366|UMLS:CN239481 owl:Class MONDO:0000156 biolink:NamedThing trigonocephaly tmpte7i6ely_mondo_relaxed.owl trigonocephaly, isolated|trigonocephalia|trigonocephalus|trigonocephaly SCTID:28740008 owl:Class MONDO:0019692 biolink:NamedThing multiple epiphyseal dysplasia and pseudoachondroplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93429|ICD10:Q78.8 owl:Class MONDO:0017708 biolink:NamedThing mevalonate kinase deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:309025|MedDRA:10072221|UMLS:C1959626 owl:Class GO:0099240 biolink:NamedThing intrinsic component of synaptic membrane The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to synaptic membrane owl:Class GO:0031226 biolink:NamedThing intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to plasma membrane owl:Class MONDO:0010334 biolink:NamedThing severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). tmpte7i6ely_mondo_relaxed.owl DDCH|contiguous ABCD1/Dxs1375E deletion syndrome|deafness, dystonia, and cerebral hypomyelination ICD10:Q87.8|UMLS:CN204816|MESH:C564508|Orphanet:369939|Orphanet:369942|OMIM:300475 owl:Class ECTO:0000485 biolink:NamedThing exposure to chemical with biological effect An exposure to biological role. tmpte7i6ely_mondo_relaxed.owl exposure to biological role owl:Class RO:0002310 biolink:NamedThing exposure event or process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043355 biolink:NamedThing collagenous gastritis A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis. tmpte7i6ely_mondo_relaxed.owl collagenous gastritis NCIT:C122082|UMLS:C4040043|GARD:0010961|SCTID:711499009 owl:Class HGNC:1502 biolink:NamedThing CASP14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019716 biolink:NamedThing overgrowth syndrome A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.3|UMLS:C2986703|Orphanet:93460|UMLS:CN206621|NCIT:C94828 owl:Class UBERON:0010983 biolink:NamedThing levator scapulae pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009365 biolink:NamedThing hydrolethalus syndrome 1 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. tmpte7i6ely_mondo_relaxed.owl hydrolethalus syndrome type 1|HLS1|hydrolethalus syndrome 1|HYLS1 hydrolethalus syndrome|hydrolethalus syndrome caused by mutation in HYLS1 DOID:0111355|OMIM:236680|MESH:C565504|UMLS:C1856016|Orphanet:2189 owl:Class MONDO:0006037 biolink:NamedThing hydrolethalus syndrome Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. tmpte7i6ely_mondo_relaxed.owl Salonen-Herva-Norio syndrome|HLS|hydrolethalus Orphanet:2189|OMIMPS:236680|ICD10:Q87.8|GARD:0006683|OMIM:614120|SCTID:721232000|DOID:0050779|MESH:C536079|UMLS:C2931104|EFO:1000033|OMIM:236680 https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome owl:Class HGNC:32550 biolink:NamedThing ZBTB42 tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000750 biolink:NamedThing exposure to biomarker An exposure to biomarker. tmpte7i6ely_mondo_relaxed.owl exposure to biomarker owl:Class MONDO:0012286 biolink:NamedThing myopathy, autophagic vacuolar, infantile-onset tmpte7i6ely_mondo_relaxed.owl myopathy, autophagic vacuolar, infantile-onset UMLS:C2931230|OMIM:609500 owl:Class MONDO:0010684 biolink:NamedThing X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. tmpte7i6ely_mondo_relaxed.owl XMEA|MEAX|vacuolar myopathy|myopathy, X-linked, with excessive autophagy GARD:0003892|DOID:0050760|OMIM:310440|UMLS:C2931230|UMLS:C1839615|SCTID:719815005|MESH:C536522|ICD10:G71.8|Orphanet:25980 https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy owl:Class MONDO:0003728 biolink:NamedThing breast fibrosarcoma A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl breast fibrosarcoma (disease)|fibrosarcoma of the breast|breast fibrosarcoma|fibrosarcoma of breast DOID:6001|NCIT:C5185|UMLS:C1332630 owl:Class MONDO:0002490 biolink:NamedThing breast sarcoma A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of the breast|sarcoma of breast|PBS|breast sarcoma ONCOTREE:PBS|DOID:3017|NCIT:C4670|UMLS:C0349667|SCTID:278050001 owl:Class GO:1904222 biolink:NamedThing positive regulation of serine C-palmitoyltransferase activity Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of SPT|positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up-regulation of 3-oxosphinganine synthetase activity|up regulation of 3-oxosphinganine synthetase activity|up regulation of SPT|upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up regulation of serine C-palmitoyltransferase activity|activation of 3-oxosphinganine synthetase activity|upregulation of serine C-palmitoyltransferase activity|up-regulation of SPT|upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|activation of SPT|up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of serine C-palmitoyltransferase activity|up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of 3-oxosphinganine synthetase activity|activation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of 3-oxosphinganine synthetase activity|activation of serine C-palmitoyltransferase activity|up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of SPT owl:Class MONDO:0005667 biolink:NamedThing biliary dyskinesia A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. tmpte7i6ely_mondo_relaxed.owl sphincter of Oddi dysfunction DOID:4140|ICD9:575.8|MESH:D001657|SCTID:197432008|EFO:0007169|HP:0012396|UMLS:C0005416 Editor note: consider ciliary classification owl:Class MONDO:0004642 biolink:NamedThing tonsillar pillar cancer A cancer that involves the tonsillar pillar. tmpte7i6ely_mondo_relaxed.owl malignant tumour of tonsillar pillar|malignant neoplasm of tonsillar pillar|malignant tumor of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior SCTID:187675005|ICD9:146.2|DOID:8688|UMLS:C0153385|ICD10:C09.1 owl:Class MONDO:0017342 biolink:NamedThing Epstein-Barr virus-related tumor tmpte7i6ely_mondo_relaxed.owl EBV-related tumor Orphanet:289638|UMLS:CN203004 owl:Class MONDO:0030062 biolink:NamedThing arrhythmogenic right ventricular dysplasia, familial, 14 tmpte7i6ely_mondo_relaxed.owl ARVD14|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14|arrhythmogenic right ventricular dysplasia, familial, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14 OMIM:618920 owl:Class GO:0014056 biolink:NamedThing regulation of acetylcholine secretion, neurotransmission Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051952 biolink:NamedThing regulation of amine transport Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000113 biolink:NamedThing 19-year-old human stage Young adult stage that refers to an adult who is under 20. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010719 biolink:NamedThing radiation sensitivity of natural killer activity tmpte7i6ely_mondo_relaxed.owl radiation sensitivity of natural killer activity|X-Ray Nk sensitivity UMLS:C1839408|OMIM:312210|MESH:C564066 owl:Class MONDO:0002897 biolink:NamedThing secondary syphilis The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. tmpte7i6ely_mondo_relaxed.owl secondary syphilis of viscera or bone DOID:4157|ICD9:091.9|UMLS:C0149985|NCIT:C128413|MESH:C536773|SCTID:240557004|ICD9:091.89|UMLS:C0343676 owl:Class MONDO:0005976 biolink:NamedThing syphilis A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. tmpte7i6ely_mondo_relaxed.owl syphilitic chancre|Treponema pallidum infectious disease|Treponema pallidum disease or disorder|Treponema pallidum caused disease or disorder MESH:D013587|MESH:D002601|NCIT:C35055|DOID:4166|ICD10:A51.0|MedDRA:10062120|SCTID:76272004|ICD9:097.9|EFO:0007504 owl:Class MONDO:0100078 biolink:NamedThing resistant hypertension A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective. tmpte7i6ely_mondo_relaxed.owl drug resistant hypertension owl:Class GO:0042310 biolink:NamedThing vasoconstriction A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. tmpte7i6ely_mondo_relaxed.owl negative regulation of blood vessel size owl:Class MONDO:0006103 biolink:NamedThing benign adrenal gland pheochromocytoma A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral. tmpte7i6ely_mondo_relaxed.owl pheochromocytoma, benign|benign adrenal gland pheochromocytoma|adrenal gland pheochromocytoma, benign NCIT:C48305|EFO:1000106 owl:Class MONDO:0024635 biolink:NamedThing small intestine disorder A disease that involves the small intestine. tmpte7i6ely_mondo_relaxed.owl disease or disorder of small intestine|disorder of small intestine|disease of small intestine|small intestine disease or disorder UMLS:C0341268|SCTID:119522002 owl:Class MONDO:0009889 biolink:NamedThing autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease, infantile, type I|autosomal recessive polycystic kidney|AR-PKD|polycystic kidney disease, infantile type|PKHD1|ARPKD|polycystic kidney and hepatic disease 1|polycystic kidney disease, autosomal recessive MedDRA:10036047|ICD9:753.14|UMLS:C0085548|NCIT:C84579|Orphanet:731|GARD:0008378|ICD10:Q61.1|DOID:0110861|SCTID:28770003 owl:Class UBERON:0000108 biolink:NamedThing blastula stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000105 biolink:NamedThing life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpte7i6ely_mondo_relaxed.owl developmental stage|stage owl:Class UBERON:0001884 biolink:NamedThing phrenic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021487 biolink:NamedThing benign neoplasm of choroid A benign neoplasm that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl benign tumor of choroid|optic choroid benign neoplasm|benign tumor of the choroid|benign neoplasm of the choroid|benign choroid neoplasm|benign choroid tumor NCIT:C3625|UMLS:C0154028|ICD9:224.6|SCTID:92059004 owl:Class UBERON:0009644 biolink:NamedThing trachea non-cartilage connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0026733 biolink:NamedThing intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type tmpte7i6ely_mondo_relaxed.owl Mental Retardation, X-Linked, With Marfanoid Habitus, 2|MRXSHD|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE OMIM:301039 owl:Class MONDO:0004447 biolink:NamedThing pituitary stalk meningioma A meningioma that affects the pituitary stalk. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of pituitary stalk|meningioma of the pituitary stalk|meningioma of pituitary stalk|pituitary stalk meningioma (disease) DOID:8058|NCIT:C5311|UMLS:C1335422 owl:Class MONDO:0002998 biolink:NamedThing skull base meningioma A meningioma that arises from the skull base. tmpte7i6ely_mondo_relaxed.owl meningioma of the skull base|meningioma of skull base|basicranium meningioma (disease)|meningioma (disease) of basicranium|skull base meningioma NCIT:C5272|DOID:4437|UMLS:C1335976 owl:Class MONDO:0005461 biolink:NamedThing endometrium adenocarcinoma An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma, endometrial, malignant|endometrioid adenomas and carcinomas|endometrial endometrioid adenocarcinoma with squamous differentiation|endometrial endometrioid adenocarcinoma|adenocarcinoma of uterus|endometrioid adenoma or carcinoma NOS (morphologic abnormality)|adenocarcinoma of endometrium|endometrial adenocarcinoma|endometrium adenocarcinoma|endometrioid adenomas and carcinomas (morphologic abnormality)|endometrioid adenoma or carcinoma|endometrial adenoacanthoma|endometrioid carcinoma of endometrium|adenocarcinoma of the endometrium UMLS:C1153706|DOID:2870|NCIT:C7359|EFO:0005232|NCIT:C6287|UMLS:C0279763|UMLS:C1336905 owl:Class UBERON:0003329 biolink:NamedThing submucosa of anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001208 biolink:NamedThing submucosa of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003311 biolink:NamedThing endometrial stromal tumor Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal). tmpte7i6ely_mondo_relaxed.owl endometrial stroma tumor|endometrial stromal tumor (morphologic abnormality)|endometrial stroma neoplasm|endometrial stromal tumor|neoplasm of endometrial stroma|endometrial stromal neoplasm|tumor of endometrial stroma MESH:D036821|UMLS:C0334695|EFO:1000920|DOID:5166|ICD9:239.5|SCTID:446887007 owl:Class MONDO:0021251 biolink:NamedThing endometrium neoplasm A neoplasm (disease) that involves the endometrium. tmpte7i6ely_mondo_relaxed.owl endometrium neoplasm (disease)|endometrial neoplasm|neoplasm of endometrium|tumor of the endometrium|endometrial tumor|neoplasm of the endometrium|tumor of endometrium|endometrium tumor SCTID:123844007|ICD9:239.5|MESH:D016889|NCIT:C3012 owl:Class GO:0050729 biolink:NamedThing positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response. tmpte7i6ely_mondo_relaxed.owl upregulation of inflammatory response|stimulation of inflammatory response|up-regulation of inflammatory response|activation of inflammatory response|up regulation of inflammatory response owl:Class GO:0050727 biolink:NamedThing regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007276 biolink:NamedThing gamete generation The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. tmpte7i6ely_mondo_relaxed.owl gametogenesis owl:Class MONDO:0007711 biolink:NamedThing Bencze syndrome Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. tmpte7i6ely_mondo_relaxed.owl hemifacial hyperplasia-strabismus syndrome|Bencze syndrome|hemifacial hyperplasia strabismus|hemifacial hyperplasia with strabismus SCTID:733046006|MESH:C564199|UMLS:C1841640|GARD:0002633|Orphanet:1241|ICD10:Q67.4|OMIM:141350 https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus owl:Class MONDO:0015663 biolink:NamedThing diencephalic syndrome Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors. tmpte7i6ely_mondo_relaxed.owl diencephalic syndrome of emaciation|diencephalic syndrome of infancy|Russell syndrome|diencephalic cachexia|Russell diencephalic cachexia|diencephalic syndrome of childhood NCIT:C116955|UMLS:C0342436|SCTID:237733001|UMLS:C0271889|Orphanet:1672|GARD:0006276|ICD10:C72.8|UMLS:CN200089|ICD9:253.8 https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome owl:Class MONDO:0024322 biolink:NamedThing disorder of glycosylation A disease that has its basis in the disruption of glycosylation. tmpte7i6ely_mondo_relaxed.owl disorder of glycosylation|glycosylation disease May be inborn or somatic owl:Class GO:0042181 biolink:NamedThing ketone biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpte7i6ely_mondo_relaxed.owl ketone formation|ketone biosynthesis|ketone synthesis|ketone anabolism owl:Class GO:0044283 biolink:NamedThing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpte7i6ely_mondo_relaxed.owl small molecule biosynthesis owl:Class MONDO:0010702 biolink:NamedThing orofaciodigital syndrome I Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. tmpte7i6ely_mondo_relaxed.owl Papillon-Leage-Psaume syndrome|orofaciodigital syndrome type 1|Papillon-Leage and Psaume syndrome|oral-facial-digital syndrome 1|oral facial digital syndrome 1|oral facial digital syndrome type 1|oral-facial-digital syndrome type 1|OFDS 1|Papillon-Léage-Psaume syndrome|orofaciodigital syndrome 1|oral-facial-digital syndrome, type 1|OFDSI|Papillon-league-Psaume syndrome (formerly)|OFD syndrome 1|orofaciodigital syndrome I|OFDI|orofaciodigital syndrome type I|OFD1 SCTID:763833006|GARD:0004121|OMIM:311200|MESH:D009958|DOID:0060316|ICD10:Q87.0|NCIT:C75481|MESH:C537134|Orphanet:2750|UMLS:C2698658|SCTID:52868006|SCTID:1779005|UMLS:C1510460 owl:Class MONDO:0021029 biolink:NamedThing genetic sebaceous gland anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic sebaceous gland anomaly Orphanet:183460 owl:Class CL:0002107 biolink:NamedThing IgD-negative CD38-positive IgG memory B cell An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0012273 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 48 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in CIB2|autosomal recessive nonsyndromic deafness type 48|deafness, autosomal recessive 48|DFNB48|autosomal recessive nonsyndromic deafness 48|deafness, autosomal recessive type 48|CIB2 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 48 UMLS:C1836199|DOID:0110505|OMIM:609439|MESH:C563720|ICD10:H90.3 owl:Class MONDO:0035008 biolink:NamedThing isolated splenic vein thrombosis tmpte7i6ely_mondo_relaxed.owl Orphanet:583856 owl:Class MONDO:0004634 biolink:NamedThing vein disorder A disease involving the vein. tmpte7i6ely_mondo_relaxed.owl disorder of vein|disease of vein|vein disease|disease or disorder of vein|vein disease or disorder ICD10:I82|UMLS:C0235522|ICD9:453|DOID:866|SCTID:90507008 owl:Class UBERON:0012429 biolink:NamedThing hematopoietic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034769 biolink:NamedThing lymphomyeloid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16280 biolink:NamedThing TRIM36 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000173 biolink:NamedThing pancreatic D cell A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin. tmpte7i6ely_mondo_relaxed.owl pancreatic D-cell|pancreatic delta cell|delta cell of pancreatic islet|somatostatin-secreting pancreatic cell|delta cell of islet|D-cell of pancreatic islet BTO:0000803|FMA:70587 cell owl:Class CL:0000502 biolink:NamedThing type D enteroendocrine cell A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. tmpte7i6ely_mondo_relaxed.owl D cell FMA:62935 cell owl:Class MONDO:0018725 biolink:NamedThing corpus callosum agenesis-macrocephaly-hypertelorism syndrome tmpte7i6ely_mondo_relaxed.owl 7q36.3 microduplication syndrome|dup(7)(q36.3) UMLS:CN242137|Orphanet:459074|ICD10:Q04.0 owl:Class MONDO:0021300 biolink:NamedThing adenoid cystic carcinoma of oropharynx A adenoid cystic carcinoma that involves the oropharynx. tmpte7i6ely_mondo_relaxed.owl oropharyngeal adenoid cystic carcinoma|oropharyngeal throat adenoid cystic cancer|oropharynx adenoid cystic carcinoma|adenoid cystic carcinoma of the oropharynx SCTID:423318000|UMLS:C1335139|NCIT:C6241 owl:Class MONDO:0044926 biolink:NamedThing oropharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx. tmpte7i6ely_mondo_relaxed.owl oropharyngeal throat cancer|carcinoma of the oropharynx|cancer of oropharynx|oropharyngeal carcinoma|cancer of the oropharynx|carcinoma of oropharynx|oropharyngeal cancer|oropharynx carcinoma NCIT:C9105 owl:Class FOODON:00002044 biolink:NamedThing mollusc food product tmpte7i6ely_mondo_relaxed.owl mollusk food product owl:Class MONDO:0012445 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 59 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 59|autosomal recessive nonsyndromic deafness type 59|deafness, autosomal recessive 59|autosomal recessive deafness 59|autosomal recessive nonsyndromic deafness caused by mutation in PJVK|DFNB59|deafness, autosomal recessive type 59|PJVK autosomal recessive nonsyndromic deafness MESH:C565698|ICD10:H90.3|OMIM:610220|DOID:0110511|UMLS:C1857744 owl:Class GO:0031326 biolink:NamedThing regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation|regulation of cellular anabolism owl:Class MONDO:0013421 biolink:NamedThing type II complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene. tmpte7i6ely_mondo_relaxed.owl complement component 8 deficiency type 2|complement component 8 deficiency type II|complement component 8 deficiency, type II|C8 Beta deficiency|C8D2|complement component 8 deficiency, type 2|C8B classic complement early component deficiency|classic complement early component deficiency caused by mutation in C8B|C8 deficiency type II|C8B deficiency|complement component 8B deficiency|C8 deficiency, type 2|Human complement C8-beta deficiency ICD10:D84.1|HGNC:1353|UMLS:C3151080|DOID:0060302|GARD:0010625|OMIM:613789|Orphanet:169150 https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2 owl:Class UBERON:0007773 biolink:NamedThing scrotal sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005399 biolink:NamedThing male reproductive gland tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33261 biolink:NamedThing organosulfur compound An organosulfur compound is a compound containing at least one carbon-sulfur bond. tmpte7i6ely_mondo_relaxed.owl organosulfur compounds|organosulfur compound owl:Class MONDO:0001014 biolink:NamedThing chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpte7i6ely_mondo_relaxed.owl chronic leukemia|leukemia (disease), chronic|chronic leukemia (disease)|CML|adult chronic leukemia|CLL ICD9:208.10|DOID:1036|UMLS:C1279296|NCIT:C3483|SCTID:92812005 owl:Class UBERON:0005145 biolink:NamedThing metanephric comma-shaped body tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004198 biolink:NamedThing comma-shaped body tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:897 biolink:NamedThing AVPR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002149 biolink:NamedThing reproductive system cancer A malignant neoplasm involving the reproductive organ tmpte7i6ely_mondo_relaxed.owl reproductive system cancer|reproductive tumor|malignant reproductive organ neoplasm|reproductive organ cancer|malignant reproductive system neoplasm|cancer of reproductive system|malignant neoplasm of reproductive system|cancer of reproductive organ|malignant neoplasm of reproductive organ UMLS:C0178830|DOID:193|NCIT:C3674|UMLS:C1334618|NCIT:C36076 owl:Class GO:0006859 biolink:NamedThing extracellular carbohydrate transport The directed extracellular movement of carbohydrates. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008643 biolink:NamedThing carbohydrate transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y. tmpte7i6ely_mondo_relaxed.owl sugar transport owl:Class MONDO:0009137 biolink:NamedThing dysmyelination with jaundice tmpte7i6ely_mondo_relaxed.owl dysmyelination with jaundice OMIM:224250|UMLS:C1857143|MESH:C565610 owl:Class UBERON:0005562 biolink:NamedThing thymus primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001048 biolink:NamedThing primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016190 biolink:NamedThing qualitative or quantitative defects of protein ZASP tmpte7i6ely_mondo_relaxed.owl Orphanet:209050 owl:Class MONDO:0016186 biolink:NamedThing qualitative or quantitative defects of myofibrillar proteins tmpte7i6ely_mondo_relaxed.owl Orphanet:209038 owl:Class HP:0011793 biolink:NamedThing Neoplasm by anatomical site Neoplasm categorized according to the anatomical site of origin of the neoplasm. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023185 peter 2012-04-22T07:00:13Z human_phenotype owl:Class HP:0002664 biolink:NamedThing Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). tmpte7i6ely_mondo_relaxed.owl Oncology|Abnormal tissue mass|Cancer|Neoplasia|Tumor|Oncological abnormality|Tumour UMLS:C0027651|SNOMEDCT_US:108369006|MSH:D009369|UMLS:C0006826|SNOMEDCT_US:363346000|NCIT:C3262 The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. HP:0003008|HP:0006741 human_phenotype owl:Class MONDO:0011094 biolink:NamedThing dilated cardiomyopathy 1C A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 24|dilated cardiomyopathy 1C with or without left ventricular noncompaction|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|CMDC1|CMD1C|dilated cardiomyopathy type 1C|left ventricular noncompaction 3 DOID:0110423|Orphanet:154|ICD10:I42.0|NCIT:C170436|MESH:C563307|Orphanet:54260|OMIM:601493 owl:Class MONDO:0014043 biolink:NamedThing microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. tmpte7i6ely_mondo_relaxed.owl microcephalic primordial dwarfism, Walsh type|MCPH10|primary autosomal recessive microcephaly 10|microcephaly 10, primary, autosomal recessive UMLS:C3554499|ICD10:Q87.1|DOID:0070294|SCTID:724141003|Orphanet:329228|UMLS:C4510378|OMIM:615095 owl:Class PATO:0002181 biolink:NamedThing displaced A positional quality inhering in a bearer by virtue the bearer's being changed in position. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000140 biolink:NamedThing position A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. tmpte7i6ely_mondo_relaxed.owl location|relational spatial quality|placement owl:Class MONDO:0016885 biolink:NamedThing partial deletion of the short arm of chromosome 3 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 3p|partial deletion of the short arm of chromosome type 3|partial deletion of chromosome 3p|partial monosomy of the short arm of chromosome 3 ICD10:Q93.5|Orphanet:261875 owl:Class MONDO:0034217 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta tmpte7i6ely_mondo_relaxed.owl ICD10:E07.8|OMIM:188570|OMIM:274300|Orphanet:566243 owl:Class MONDO:0001328 biolink:NamedThing thyroid hormone resistance syndrome An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. tmpte7i6ely_mondo_relaxed.owl resistance to thyrotropin|TSH resistance|thyroid hormone resistance syndrome|thyroid hormone resistance|resistance to thyroid stimulating hormone|thyroid hormone responsiveness defect|generalized thyroid hormone resistance|RTH OMIM:188570|SCTID:111567006|NCIT:C85191|MESH:D018382|OMIM:274300|DOID:11633|ICD9:259.8|UMLS:CN118820 owl:Class MONDO:0020355 biolink:NamedThing coloboma of eye lens tmpte7i6ely_mondo_relaxed.owl ICD10:Q12.2|GARD:0001433|Orphanet:98943 https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens owl:Class HP:0001974 biolink:NamedThing Leukocytosis An abnormal increase in the number of leukocytes in the blood. tmpte7i6ely_mondo_relaxed.owl Elevated white blood count|High white blood count|Increased blood leukocyte number MSH:D007964|SNOMEDCT_US:111583006|UMLS:C0023518 human_phenotype owl:Class HP:0011893 biolink:NamedThing Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. tmpte7i6ely_mondo_relaxed.owl Abnormal white blood cell count UMLS:C0580531|SNOMEDCT_US:165509000 peter 2012-06-02T05:32:39Z human_phenotype owl:Class GO:0061622 biolink:NamedThing glycolytic process through glucose-1-phosphate The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061620 biolink:NamedThing glycolytic process through glucose-6-phosphate The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011706 biolink:NamedThing Kufor-Rakeb syndrome Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. tmpte7i6ely_mondo_relaxed.owl autosomal recessive juvenile onset Parkinson disease 9|KRPPD|park 9|Kufor-Rakeb syndrome|KRS|Parkinson disease 9, autosomal recessive|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|autosomal recessive Parkinson disease 9|Parkinson disease 9, autosomal recessive, juvenile-onset|PARK9|ceroid lipofuscinosis, neuronal, 12|Parkinson disease type 9 Orphanet:314632|OMIM:606693|Orphanet:306674|DOID:0060556|GARD:0009174|ICD10:G23.0|MESH:C537177 owl:Class UBERON:0009500 biolink:NamedThing periotic mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015548 biolink:NamedThing Huntington disease-like syndrome tmpte7i6ely_mondo_relaxed.owl Huntington disease phenocopy syndrome UMLS:C3711380|Orphanet:158266|ICD9:333.99|MESH:C580174|SCTID:702376003 owl:Class MONDO:0002988 biolink:NamedThing cervix melanoma An aggressive malignant tumor of melanocytic origin that arises from the cervix. tmpte7i6ely_mondo_relaxed.owl melanoma of the cervix|cervical melanoma|primary malignant melanoma of the cervix uteri|primary malignant melanoma of the uterine cervix UMLS:C0877611|NCIT:C40239|DOID:4413|GARD:0009664 owl:Class MONDO:0021069 biolink:NamedThing malignant endocrine neoplasm A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the endocrine gland|malignant neoplasm of the endocrine gland|cancer of endocrine gland|malignant tumor of endocrine gland|malignant endocrine gland neoplasm|endocrine neoplasm|neoplasm of endocrine system|endocrine neoplasm, malignant|malignant neoplasm of endocrine gland|endocrine cancer|malignant endocrine gland tumor|Endocrine tumor|endocrine gland cancer|malignant tumour of endocrine gland|malignant endocrine tumor|malignant endocrine neoplasm NCIT:C3575|ICD9:194.9|NCIT:C3010|ICD10:C75.9|SCTID:387922007|MESH:D004701|DOID:170 owl:Class MONDO:0032611 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 6 tmpte7i6ely_mondo_relaxed.owl MC1DN6|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 OMIM:618228 owl:Class OBI:0100051 biolink:NamedThing specimen A material entity that has the specimen role. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0600018 biolink:NamedThing acinar dysplasia caused by mutation in FGFR2 Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene. tmpte7i6ely_mondo_relaxed.owl FGFR2 acinar dysplasia|FGFR2 related acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0600016 biolink:NamedThing acinar dysplasia A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4. tmpte7i6ely_mondo_relaxed.owl AcDys http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0003186 biolink:NamedThing esophageal adenoid cystic carcinoma An infrequent esophageal carcinoma arising from esophageal glands. (WHO) tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of the esophagus|adenoid cystic esophagus carcinoma|adenoid cystic carcinoma, esophagus|esophagus adenoid cystic carcinoma|esophageal adenoid cystic carcinoma|esophageal adenoid cystic cancer|adenoid cystic carcinoma of esophagus NCIT:C5342|DOID:4878|UMLS:C1333441 owl:Class MONDO:0005028 biolink:NamedThing esophageal adenocarcinoma A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl esophageal adenocarcinoma|esophagus adenocarcinoma|adenocarcinoma of the esophagus|oesophageal adenocarcinoma|adenocarcinoma - esophagus|adenocarcinoma of esophagus OMIM:614266|NCIT:C4025|ICD10:C15.5|Orphanet:99976|OMIM:109350|ONCOTREE:ESCA|DOID:4914|EFO:0000478|ICD10:C15.2|SCTID:276803003|UMLS:C0279628 owl:Class GO:0008242 biolink:NamedThing omega peptidase activity Catalysis of the cleavage of non-standard peptide bonds releasing substituted amino acids such as pyroglutamate or cleave isopeptide bonds, such as many deubiquitinating enzymes. tmpte7i6ely_mondo_relaxed.owl peptidase activity, acting on peptides containing modified amino acids owl:Class MONDO:0001584 biolink:NamedThing ocular motility disease tmpte7i6ely_mondo_relaxed.owl disorder of eye movements|eye movement disorder EFO:1001990|SCTID:45030009|DOID:1279|ICD9:378.9|GARD:0007237 owl:Class HGNC:28852 biolink:NamedThing SYCE1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:37022 biolink:NamedThing amino-acid anion tmpte7i6ely_mondo_relaxed.owl amino-acid anions|amino acid anions|amino-acid anion owl:Class MONDO:0006802 biolink:NamedThing inappropriate ADH syndrome A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. tmpte7i6ely_mondo_relaxed.owl SIADH|syndrome of inappropriate secretion of ADH|inappropriate antidiuretic hormone secretion syndrome|syndrome of inappropriate vasopressin secretion|syndrome of inappropriate antidiuretic hormone|syndrome of inappropriate secretion of antidiuretic hormone|inappropriate Arginine vasopressin secretion|ectopic antidiuretic hormone secretion|ectopic ADH secretion|syndrome of inappropriate antidiuretic hormone secretion|inappropriate ADH secretion ICD10:E22.2|SCTID:55004003|ICD9:253.6|MedDRA:10042818|NCIT:C3988|EFO:1000982|DOID:3401|MESH:D007177|UMLS:C0021141|Orphanet:83449 owl:Class MONDO:0045072 biolink:NamedThing ectopic hormone secretion syndrome associated with neoplasia Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body. tmpte7i6ely_mondo_relaxed.owl ectopic hormone secretion syndrome associated with neoplasia|neoplasm associated ectopic hormone secretion syndrome NCIT:C4065|UMLS:C0851689 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0043291 biolink:NamedThing Rokitansky-Aschoff sinuses of the gallbladder An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. tmpte7i6ely_mondo_relaxed.owl Aschoff-Rokitansky sinuses|intramural diverticulosis of the gallbladder|Rokitansky-Aschoff sinuses GARD:0009419|UMLS:C0267892|MESH:C535869|SCTID:22149007 owl:Class MONDO:0009216 biolink:NamedThing glycogen storage disease due to GLUT2 deficiency Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. tmpte7i6ely_mondo_relaxed.owl glycogen storage disease XI|pseudo-phlorizin diabetes|Fanconi-Bickel disease|GSD type 11|glycogen storage disease type 11|hepatic glycogenosis with Fanconi nephropathy|glycogenosis, Fanconi type|glycogenosis Fanconi EXACT|Fanconi Bickel syndrome|GSD type XI|glycogen storage disease 11|GSD due to GLUT2 deficiency|hepatic glycogenosis with amino aciduria and glucosuria|hepatorenal glycogenosis with renal Fanconi syndrome|glycogen storage disease due to GLUT2 deficiency|Fanconi-Bickel syndrome|glycogenosis due to GLUT2 deficiency|Fanconi syndrome with intestinal malabsorption and galactose intolerance|Bickel-Fanconi glycogenosis|glycogen storage disease type XI|hepatorenal glycogenosis with renal fanconi syndrome|FBS|GLUT2 deficiency SCTID:61598006|Orphanet:2088|ICD10:E74.0|GARD:0002268|OMIM:227810 https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome owl:Class MONDO:0002412 biolink:NamedThing glycogen storage disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. tmpte7i6ely_mondo_relaxed.owl glycogenoses|glycogen metabolism disorder|inborn glycogen metabolic process disorder|inborn glycogen storage disorder|rare inborn error of glycogen metabolic process|inborn error of glycogen metabolic process|glycogenosis|GSD|glycogen storage disease|glycogen storage disorder ICD10:E74.00|Orphanet:79201|DOID:2747|NCIT:C61272|MedDRA:10061990|UMLS:C0017919|ICD9:271.0|DOID:0050728|SCTID:29633007|MESH:D006008|ICD10:E74.0 owl:Class MONDO:0014802 biolink:NamedThing Cowden syndrome 7 Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene. tmpte7i6ely_mondo_relaxed.owl Cowden syndrome type 7|SEC23B Cowden disease|Cowden disease caused by mutation in SEC23B|Cowden syndrome 7|CWS7 UMLS:C4225179|OMIM:616858 owl:Class MONDO:0016063 biolink:NamedThing Cowden disease tmpte7i6ely_mondo_relaxed.owl multiple hamartoma syndrome|Cowden syndrome|dysplastic gangliocytoma of cerebellum|Cowden disease|CD|MHAM|Cowden's disease Orphanet:201|DOID:6457|UMLS:C0018553|OMIM:615106|MESH:D006223|OMIM:158350|OMIM:616858|OMIM:612359|ICD10:Q85.8|NCIT:C3076|OMIM:615109|OMIMPS:158350|SCTID:58037000|OMIM:615108|OMIM:615107|GARD:0006202|MedDRA:10051906 owl:Class MONDO:0002525 biolink:NamedThing inherited lipid metabolism disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. tmpte7i6ely_mondo_relaxed.owl dyslipidemia|fatty acid metabolism disorder|lipid metabolism disorder|disorder of lipid metabolism ICD9:272.9|UMLS:C0154251|MedDRA:10061227|DOID:3146|SCTID:267431006|ICD9:272.8|NCIT:C97092|Orphanet:309005 owl:Class MONDO:0014620 biolink:NamedThing myoclonic dystonia 26 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene. tmpte7i6ely_mondo_relaxed.owl dystonia 26, myoclonic|KCTD17 myoclonus-dystonia syndrome|DYT26|myoclonus-dystonia syndrome caused by mutation in KCTD17|myoclonic dystonia type 26 DOID:0090036|OMIM:616398|UMLS:C4225341 owl:Class MONDO:0000903 biolink:NamedThing myoclonus-dystonia syndrome Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. tmpte7i6ely_mondo_relaxed.owl hereditary essential myoclonus|dystonia 11, myoclonic|myoclonus-Dystonia|dystonia with myoclonus|myoclonus-dystonia|dystonia-11, myoclonic|DYT11|myoclonus-dystonia syndrome|DYT-SGCE|dystonia, alcohol-responsive|dystonia 11|Hereditary essential myoclonus|myoclonic dystonia|alcohol-responsive dystonia|myoclonus, hereditary essential|dystonia, alcohol responsive UMLS:C1834570|OMIM:159900|SCTID:439732004|MESH:C536096|DOID:0090033|ICD10:G24.1|GARD:0007139|Orphanet:36899|ICD9:333.99 owl:Class HGNC:119 biolink:NamedThing ACOX1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4861 biolink:NamedThing HELLS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003608 biolink:NamedThing optic atrophy A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. tmpte7i6ely_mondo_relaxed.owl atrophy of optic disc MESH:D009896|NCIT:C34863|ICD9:377.1|Orphanet:98673|DOID:5723|SCTID:76976005|ICD10:H47.2|ICD9:377.10|UMLS:C1744705|UMLS:C0029124|ICD10:H47.20 owl:Class HGNC:29216 biolink:NamedThing ARHGAP31 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006349 biolink:NamedThing papillary cystic neoplasm A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures. tmpte7i6ely_mondo_relaxed.owl papillary cystic tumor|papillary cystic neoplasm EFO:1000448|UMLS:C0334357|NCIT:C4179 owl:Class MONDO:0021096 biolink:NamedThing papillary epithelial neoplasm tmpte7i6ely_mondo_relaxed.owl papillary epithelial neoplasm UMLS:C1335324|NCIT:C8429 owl:Class HGNC:21033 biolink:NamedThing HACE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022737 biolink:NamedThing choroideremia hypopituitarism This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. tmpte7i6ely_mondo_relaxed.owl choroideremia hypopituitarism|choroideraemia hypopituitarism|choroideremia co-occurrent with hypopituitarism|choroideraemia co-occurrent with hypopituitarism UMLS:C4275146|GARD:0001312|SCTID:715417002 https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism owl:Class MONDO:0010557 biolink:NamedThing choroideremia Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. tmpte7i6ely_mondo_relaxed.owl choroidal sclerosis|Tapetochoroidal dystrophy, progressive|Tapetochoroidal dystrophy|TCD|progressive choroidal atrophy|progressive tapetochoroidal dystrophy|choroideremia|CHM ICD9:363.55|UMLS:C0008525|Orphanet:180|GARD:0006061|SCTID:75241009|DOID:9821|MedDRA:10008791|MESH:D015794|ICD10:H31.2|NCIT:C34469|OMIM:303100|ICD10:H31.21 https://rarediseases.info.nih.gov/diseases/6061/choroideremia owl:Class MONDO:0015757 biolink:NamedThing lymphoid hemopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:171898 owl:Class MONDO:0009562 biolink:NamedThing beta-mannosidosis Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. tmpte7i6ely_mondo_relaxed.owl lysosomal Beta-mannosidase deficiency|Beta-mannosidase deficiency|MANSB|Beta-D-mannosidosis|beta-mannosidase deficiency|lysosomal beta-mannosidase deficiency|beta-mannosidosis|mannosidosis, BETA A, lysosomal Orphanet:118|OMIM:248510|SCTID:238047006|NCIT:C84596|MESH:D044905|DOID:3633|UMLS:C4048196|ICD10:E77.1|ICD9:271.8|GARD:0000869 owl:Class MONDO:0019251 biolink:NamedThing oligosaccharidosis tmpte7i6ely_mondo_relaxed.owl ICD10:E77.1|Orphanet:79215 owl:Class OBO:CHR_9606-chr7q1 biolink:NamedThing 7q1 (Human) tmpte7i6ely_mondo_relaxed.owl 77900000 60100000 hg38 owl:Class MONDO:0006476 biolink:NamedThing undifferentiated gallbladder carcinoma A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. tmpte7i6ely_mondo_relaxed.owl undifferentiated gallbladder cancer|undifferentiated gallbladder carcinoma|gall bladder undifferentiated carcinoma|undifferentiated carcinoma of gallbladder|gallbladder undifferentiated carcinoma|anaplastic gallbladder carcinoma|anaplastic carcinoma of the gallbladder|anaplastic carcinoma of gallbladder|undifferentiated carcinoma of the gallbladder EFO:1000604|UMLS:C0279653|NCIT:C9167 owl:Class MONDO:0004372 biolink:NamedThing chronic toxic polyneuropathy tmpte7i6ely_mondo_relaxed.owl chronic toxic polyneuropathy UMLS:C1333048|NCIT:C35603|DOID:7825 owl:Class MONDO:0003335 biolink:NamedThing chronic polyneuropathy Polyneuropathy that is persistent or long-standing in nature. tmpte7i6ely_mondo_relaxed.owl polyneuropathy, chronic DOID:5221|UMLS:C1167650|NCIT:C36071 owl:Class MONDO:0000589 biolink:NamedThing autoimmune disorder of musculoskeletal system A hypersensitivity reaction type II disease that involves the musculoskeletal system. tmpte7i6ely_mondo_relaxed.owl musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease DOID:0060032 owl:Class MONDO:0020447 biolink:NamedThing coronary sinus atresia tmpte7i6ely_mondo_relaxed.owl Orphanet:99118|ICD10:Q21.1 owl:Class MONDO:0019831 biolink:NamedThing congenital anomaly of the coronary sinus tmpte7i6ely_mondo_relaxed.owl ICD10:Q21.1|Orphanet:95500 owl:Class UBERON:0001677 biolink:NamedThing sphenoid bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008193 biolink:NamedThing pneumatized bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016821 biolink:NamedThing shoulder and girdle defects-familial intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl shoulder girdle defect intellectual disability familial|shoulder girdle defect mental retardation familial Orphanet:2580|UMLS:CN227007|GARD:0004860|ICD10:Q87.2 owl:Class GO:0005976 biolink:NamedThing polysaccharide metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpte7i6ely_mondo_relaxed.owl glycan metabolic process|glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process owl:Class GO:0005975 biolink:NamedThing carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. tmpte7i6ely_mondo_relaxed.owl single-organism carbohydrate metabolic process|multicellular organismal carbohydrate metabolic process|carbohydrate metabolism owl:Class GO:2000082 biolink:NamedThing regulation of L-ascorbic acid biosynthetic process Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of vitamin C biosynthetic process|regulation of vitamin C biosynthesis|regulation of L-ascorbic acid formation|regulation of L-ascorbic acid synthesis|regulation of ascorbate biosynthetic process|regulation of L-ascorbic acid anabolism|regulation of L-ascorbic acid biosynthesis|regulation of ascorbate biosynthesis owl:Class GO:0043255 biolink:NamedThing regulation of carbohydrate biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. tmpte7i6ely_mondo_relaxed.owl regulation of carbohydrate formation|regulation of carbohydrate synthesis|regulation of carbohydrate anabolism|regulation of carbohydrate biosynthesis owl:Class MONDO:0004040 biolink:NamedThing urinary bladder inverted papilloma A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. tmpte7i6ely_mondo_relaxed.owl bladder inverted papilloma|urinary bladder inverted papilloma UMLS:C1511190|SCTID:447765004|NCIT:C39859|DOID:6932 owl:Class MONDO:0021109 biolink:NamedThing inverted urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. tmpte7i6ely_mondo_relaxed.owl IUP|urothelium inverted papilloma|urinary tract inverted papilloma|inverted papilloma of urinary tract|inverted urothelial papilloma NCIT:C6192|UMLS:C1334282|ONCOTREE:IUP owl:Class MONDO:0013309 biolink:NamedThing chromosome 2p12-p11.2 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 2p12-p11.2 deletion syndrome OMIM:613564|DOID:0060414|UMLS:C3150804 owl:Class MONDO:0016884 biolink:NamedThing partial deletion of the short arm of chromosome 2 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome 2p|partial monosomy of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial monosomy of the short arm of chromosome 2 ICD10:Q93.5|Orphanet:261866 owl:Class GO:0003104 biolink:NamedThing positive regulation of glomerular filtration Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007540 biolink:NamedThing multiple endocrine neoplasia type 1 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. tmpte7i6ely_mondo_relaxed.owl Wermer's syndrome|multiple endocrine neoplasia type I|multiple endocrine adenomatosis type I|endocrine adenomatosis, multiple|multiple endocrine adenomatosis|MEN1 somatic mutations|men type I|multiple endocrine neoplasia type 1 syndrome|MEA type I|MEN1 syndrome|Wermer syndrome|MEN1|men 1|endocrine adenomatosis multiple|multiple endocrine adenomatosis, type I|MEA 1|multiple endocrine adenomatosis type 1|multiple endocrine neoplasia, type 1|MEN1 multiple endocrine neoplasia|multiple endocrine neoplasia type 1|multiple endocrine neoplasia, type I|men type 1|MEA type 1|multiple endocrine neoplasia caused by mutation in MEN1 NCIT:C3225|GARD:0003829|UMLS:C0025267|ICD9:258.01|SCTID:30664006|ICD10:E31.21|OMIM:131100|MESH:D018761|ICD9:237.4|Orphanet:652|DOID:10017|MedDRA:10028190|ICD10:D44.8 https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 owl:Class MONDO:0015077 biolink:NamedThing adrenal/paraganglial tumor tmpte7i6ely_mondo_relaxed.owl UMLS:CN197370|Orphanet:100091 Editor note: consider merging owl:Class UBERON:0007271 biolink:NamedThing appendage musculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014610 biolink:NamedThing thoracic spinal cord ventral horn tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002257 biolink:NamedThing ventral horn of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001154 biolink:NamedThing elongated A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000052 biolink:NamedThing shape A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). tmpte7i6ely_mondo_relaxed.owl relational shape quality owl:Class MONDO:0008523 biolink:NamedThing Blau syndrome Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. tmpte7i6ely_mondo_relaxed.owl Blau syndrome|EOS|synovitis, granulomatous, with uveitis and cranial neuropathies|pediatric granulomatous arthritis|Jabs syndrome|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|synovitis granulomatous with uveitis and cranial neuropathies|sarcoidosis, early-onset|granulomatosis, familial juvenile systemic|early-onset sarcoidosis|ACUG|BLAUS|arthrocutaneouveal granulomatosis|granulomatosis, familial, Blau type Orphanet:90341|UMLS:C1836122|ICD9:714.89|Orphanet:90340|DOID:0050678|SCTID:699861000|MESH:C538157|OMIM:609464|OMIM:186580|UMLS:C1861303|NCIT:C116794|ICD9:692.9|GARD:0000304|MedDRA:10071755 https://rarediseases.info.nih.gov/diseases/304/blau-syndrome owl:Class NCBITaxon:28314 biolink:NamedThing Aleutian mink disease virus tmpte7i6ely_mondo_relaxed.owl Aleutian disease virus|Aleutian mink disease parvovirus|AMDV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1511862 biolink:NamedThing Carnivore amdoparvovirus 1 tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0015152 biolink:NamedThing glucose-6-phosphate transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011554 biolink:NamedThing deafness, nonsyndromic, modifier 1 tmpte7i6ely_mondo_relaxed.owl DFNM1|deafness, autosomal recessive 26, modifier OF|Dfnb26, suppressor of|deafness, nonsyndromic, modifier Of, 1|Dfnb26, modifier of|deafness, nonsyndromic, modifier 1|deafness, autosomal recessive 26, modifier of|DFNB26M 2022-04-01 OMIM:605429 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class GO:0090285 biolink:NamedThing negative regulation of protein glycosylation in Golgi Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpte7i6ely_mondo_relaxed.owl negative regulation of protein amino acid glycosylation in Golgi owl:Class GO:0060051 biolink:NamedThing negative regulation of protein glycosylation Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpte7i6ely_mondo_relaxed.owl negative regulation of protein amino acid glycosylation owl:Class UBERON:0012247 biolink:NamedThing cervical gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002451 biolink:NamedThing endometrial gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010885 biolink:NamedThing Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. tmpte7i6ely_mondo_relaxed.owl Death of bone due to decreased blood supply|Ischemic bone necrosis|Aseptic necrosis|Bone infarction|Aseptic bone necrosis|Osteonecrosis|Ischaemic bone necrosis|Osteochondronecrosis MSH:D010020|SNOMEDCT_US:72756009|UMLS:C0520474|SNOMEDCT_US:240196003|SNOMEDCT_US:398199007|UMLS:C0029445|UMLS:C0877326|UMLS:C0085660 The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. sdoelken 2010-09-24T10:11:05Z human_phenotype owl:Class MONDO:0014508 biolink:NamedThing vitelliform macular dystrophy 4 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene. tmpte7i6ely_mondo_relaxed.owl macular dystrophy, vitelliform, 4|vitelliform macular dystrophy caused by mutation in IMPG1|macular dystrophy, vitelliform, type 4|IMPG1 vitelliform macular dystrophy|VMD4 Orphanet:99000|OMIM:616151|UMLS:C4015342 owl:Class MONDO:0000390 biolink:NamedThing vitelliform macular dystrophy A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. tmpte7i6ely_mondo_relaxed.owl macular dystrophy, vitelliform|vitelliform macular dystrophy OMIM:616152|NCIT:C118788|OMIMPS:153840|UMLS:C0339510|DOID:0050661|MESH:D057826|OMIM:616151|SCTID:90036004|Orphanet:1243|ICD10:H35.5|OMIM:608161|OMIM:153840|Orphanet:99000|OMIM:153700 owl:Class UBERON:0006915 biolink:NamedThing stratified squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905293 biolink:NamedThing negative regulation of neural crest cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of neural crest cell differentiation|down regulation of neural crest cell differentiation|downregulation of neural crest cell differentiation|inhibition of neural crest cell differentiation owl:Class GO:2000737 biolink:NamedThing negative regulation of stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004663 biolink:NamedThing aorta wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035965 biolink:NamedThing wall of blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008967 biolink:NamedThing congenital bile acid synthesis defect 4 An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. tmpte7i6ely_mondo_relaxed.owl Trihydroxycoprostanic acid in bile|cholestasis, intrahepatic, with defective conversion of|trihydroxycoprostanic acid in bile|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|congenital bile acid synthesis defect type 4|AMACR deficiency|BASD4|bile acid synthesis defect, congenital, type 4|BAS defect type 4|congenital bile acid synthesis defect 4|Trihydroxycoprostanic acid to cholic acid|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|bile acid synthesis defect, congenital, 4|Alpha-methyl-acyl-CoA racemase deficiency|2-methylacyl-CoA racemase deficiency|CBAS4|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome OMIM:614307|MESH:C535444|Orphanet:79095|ICD10:K76.8|OMIM:214950|DOID:0111068|UMLS:C3280428|GARD:0010046 https://github.com/monarch-initiative/mondo/issues/2632|https://github.com/monarch-initiative/mondo/issues/1196|https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4 owl:Class GO:0009101 biolink:NamedThing glycoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpte7i6ely_mondo_relaxed.owl glycoprotein anabolism|glycoprotein biosynthesis|glycoprotein formation|glycoprotein synthesis owl:Class GO:1901566 biolink:NamedThing organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. tmpte7i6ely_mondo_relaxed.owl organonitrogen compound formation|organonitrogen compound synthesis|organonitrogen compound anabolism|organonitrogen compound biosynthesis owl:Class UBERON:0005401 biolink:NamedThing cerebral hemisphere gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045807 biolink:NamedThing positive regulation of endocytosis Any process that activates or increases the frequency, rate or extent of endocytosis. tmpte7i6ely_mondo_relaxed.owl up regulation of endocytosis|activation of endocytosis|stimulation of endocytosis|up-regulation of endocytosis|upregulation of endocytosis owl:Class GO:0030100 biolink:NamedThing regulation of endocytosis Any process that modulates the frequency, rate or extent of endocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010302 biolink:NamedThing Ito hypomelanosis Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. tmpte7i6ely_mondo_relaxed.owl Incontinentia pigmenti type 1|Incontinentia pigmenti, type I, formerly|Incontinentia pigmenti, type I|IPA|Incontinentia pigmenti achromians|pigmentary mosaicism, Ito type|hi syndrome|Incontinentia pigmenti type 1 (formerly)|Ito hypomelanosis|Ito|HMI|hypomelanosis of Ito GARD:0002992|Orphanet:435|OMIM:300337|DOID:3156|ICD10:Q87.8 owl:Class MONDO:0000244 biolink:NamedThing endothrix infectious disease A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell. tmpte7i6ely_mondo_relaxed.owl DOID:0050105 owl:Class UBERON:0000203 biolink:NamedThing pallium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015799 biolink:NamedThing Smith-McCort dysplasia Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. tmpte7i6ely_mondo_relaxed.owl Smith-McCort dwarfism|Smith McCort dysplasia OMIMPS:607326|SCTID:715862006|GARD:0010620|MESH:C564589|ICD10:Q77.7|DOID:0060247|OMIM:615222|OMIM:607326|Orphanet:178355 https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia owl:Class MONDO:0007037 biolink:NamedThing achondroplasia Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. tmpte7i6ely_mondo_relaxed.owl osteosclerosis congenita|achondroplasia|achondroplastic physique|chondrodystrophia|achondroplastic dwarfism|ach MedDRA:10000452|Orphanet:15|OMIM:100800|DOID:4480|NCIT:C34345|GARD:0008173|MESH:D000130|ICD10:Q77.4|SCTID:86268005|UMLS:C0001080 https://rarediseases.info.nih.gov/diseases/8173/achondroplasia owl:Class MONDO:0019428 biolink:NamedThing fried syndrome Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. tmpte7i6ely_mondo_relaxed.owl SCTID:718848000|UMLS:C4305134|ICD10:Q87.8|OMIM:304340|Orphanet:85335|UMLS:CN206186 owl:Class HGNC:2334 biolink:NamedThing CR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004460 biolink:NamedThing thyroid gland fetal adenoma A thyroid gland adenoma composed of microfollicular structures. tmpte7i6ely_mondo_relaxed.owl microfollicular adenoma (morphologic abnormality)|microfollicular adenoma|thyroid gland microfollicular adenoma|thyroid fetal adenoma ICDO:8333/0|UMLS:C0334328|DOID:8102|NCIT:C4160 owl:Class MONDO:0005032 biolink:NamedThing follicular thyroid adenoma A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. tmpte7i6ely_mondo_relaxed.owl thyroid adenoma|thyroid gland follicular adenoma|follicular adenoma of thyroid|follicular thyroid adenoma|thyroid gland adenoma|thyroid follicle adenoma|adenoma, follicular cell, benign|adenoma of thyroid gland|follicular adenoma of thyroid gland|adenoma of thyroid|follicular adenoma of the thyroid gland|follicular adenoma of the thyroid|adenoma of the thyroid gland|thyroid follicular adenoma|follicular adenoma (morphologic abnormality)|follicular adenoma|adenoma of the thyroid NCIT:C3502|UMLS:C0205647|ICDO:8330/0|EFO:0000499|DOID:6204|SCTID:255034006|MESH:D000236|UMLS:C0151468 owl:Class MONDO:0010588 biolink:NamedThing exudative vitreoretinopathy 2, X-linked Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene. tmpte7i6ely_mondo_relaxed.owl EVR2|exudative vitreoretinopathy, familial, 2|Evrx|exudative vitreoretinopathy caused by mutation in NDP|NDP exudative vitreoretinopathy|Fevr, X-linked|exudative vitreoretinopathy 2, X-linked OMIM:305390|DOID:0111413|MESH:C564428|UMLS:C1844579|Orphanet:891 owl:Class MONDO:0019516 biolink:NamedThing exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. tmpte7i6ely_mondo_relaxed.owl exudative vitreoretinopathy, familial|familial exudative vitreoretinopathy|FEVR|Criswick-Schepens syndrome ICD9:362.10|OMIM:605750|MESH:C536382|MESH:C580083|OMIM:601813|Orphanet:891|OMIM:133780|OMIM:616468|UMLS:C1851402|UMLS:C4072980|DOID:0050535|ICD10:H35.0|OMIM:305390|GARD:0001613|SCTID:232063007|ICD10:H35.00|OMIMPS:133780|OMIM:613310 owl:Class HP:0002644 biolink:NamedThing Abnormality of pelvic girdle bone morphology An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. tmpte7i6ely_mondo_relaxed.owl Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle UMLS:C4020847 human_phenotype owl:Class HP:0011844 biolink:NamedThing Abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023163 peter 2012-05-07T08:12:26Z human_phenotype owl:Class MONDO:0012819 biolink:NamedThing diabetic ketoacidosis The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. tmpte7i6ely_mondo_relaxed.owl KPD|diabetes mellitus, ketosis-prone|ketosis-prone diabetes mellitus OMIM:612227|ICD9:250.1|NCIT:C50530|MESH:D016883|ICD9:250.10|DOID:1837|MedDRA:10012671|EFO:1000897|UMLS:C0011880|SCTID:420422005 owl:Class MONDO:0017872 biolink:NamedThing Lujo hemorrhagic fever Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. tmpte7i6ely_mondo_relaxed.owl Zambian hemorrhagic fever UMLS:C4274433|ICD10:A96.8|UMLS:CN203921|Orphanet:319213|SCTID:716585008|DOID:0050202 owl:Class MONDO:0005651 biolink:NamedThing arenavirus hemorrhagic fever A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. tmpte7i6ely_mondo_relaxed.owl arenaviral hemorrhagic fever EFO:0007151|UMLS:C0153112|ICD9:078.7|SCTID:73730005 MONDO:0024384 owl:Class MONDO:0008852 biolink:NamedThing congenital central hypoventilation syndrome A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. tmpte7i6ely_mondo_relaxed.owl Haddad syndrome|autonomic control, congenital failure of|idiopathic congenital central alveolar hypoventilation|Cchs with Hirschsprung disease|ondine-Hirschsprung disease|central congenital hypoventilation syndrome|congenital central alveolar hypoventilation syndrome|ondine curse, congenital|congenital ondine curse|ondine syndrome|CCHS|congenital failure of autonomic control|ondine curse (formerly)|ondine curse|congenital central hypoventilation syndrome|congenital central hypoventilation|ondine's curse (formerly)|primary alveolar hypoventilation|central hypoventilation syndrome, congenital 2022-05-01 MedDRA:10007982|NCIT:C98889|UMLS:C1275808|OMIM:209880|ICD10:G47.3|Orphanet:99803|GARD:0008535|DOID:0060731|SCTID:230499002|MedDRA:10066131|Orphanet:661 This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030767. MONDO:800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease will be added as the more specific subclass. https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome owl:Class UBERON:0001247 biolink:NamedThing falciform ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008845 biolink:NamedThing nonskeletal ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004939 biolink:NamedThing submucosa of common bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:144644 biolink:NamedThing a tetracycline zwittterion tmpte7i6ely_mondo_relaxed.owl a tetracycline owl:Class CHEBI:26895 biolink:NamedThing tetracyclines A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009542 biolink:NamedThing lysine malabsorption syndrome tmpte7i6ely_mondo_relaxed.owl lysine malabsorption syndrome OMIM:247950|MESH:C563080|UMLS:C0796023 owl:Class MONDO:0006771 biolink:NamedThing glossitis Inflammation of the tongue. tmpte7i6ely_mondo_relaxed.owl inflammation of tongue|tongue inflammation DOID:1456|SCTID:45534005|MedDRA:10018386|ICD9:529.0|EFO:1000951|NCIT:C112199|UMLS:C0017675|MESH:D005928|ICD10:K14.0 owl:Class MONDO:0022180 biolink:NamedThing chromosome 16 trisomy tmpte7i6ely_mondo_relaxed.owl mosaic trisomy 16|trisomy 16|trisomy chromosome 16 GARD:0007060|NCIT:C37866 https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy owl:Class MONDO:0015695 biolink:NamedThing combined immunodeficiency due to CRAC channel dysfunction A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. tmpte7i6ely_mondo_relaxed.owl immune dysfunction due to T-cell inactivation due to calcium entry defect SCTID:717811007|ICD10:D81.8|Orphanet:169090|OMIM:612783|OMIM:612782 owl:Class MONDO:0014960 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UMLS:C4310675|OMIMPS:617186 owl:Class MONDO:0017319 biolink:NamedThing hereditary elliptocytosis Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. tmpte7i6ely_mondo_relaxed.owl ovalocytosis|HE|congenital elliptocytosis|hereditary ovalocytosis NCIT:C35882|NCIT:C36293|SCTID:178935009|MedDRA:10014490|OMIM:611804|SCTID:191169008|UMLS:C0013902|OMIM:130600|OMIM:235370|DOID:2373|Orphanet:288|GARD:0006621|MESH:D004612|ICD10:D58.1|ICD9:282.1 owl:Class MONDO:0003664 biolink:NamedThing hemolytic anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. tmpte7i6ely_mondo_relaxed.owl hemolytic anemia|anemia, hemolytic|anemia hemolytic OMIM:266120|OMIM:612631|ICD10:D55-D59|MESH:D000743|ICD10:D55.D59|NCIT:C34376|DOID:583|SCTID:61261009|EFO:0005558 owl:Class MONDO:0015330 biolink:NamedThing overgrowth/obesity syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN199360|Orphanet:139024 owl:Class MONDO:0008903 biolink:NamedThing lung cancer A malignant neoplasm involving the lung. tmpte7i6ely_mondo_relaxed.owl malignant tumor of lung|lung cancer, protection against|cancer of lung|malignant neoplasm of the lung|Nonsmall cell lung cancer|malignant lung tumor|malignant lung neoplasm|lung cancer|malignant neoplasm of lung|malignant tumor of the lung|lung neoplasm|alveolar cell carcinoma OMIM:612593|ICD10:C34.3|UMLS:C0152013|ICD9:162.4|NCIT:C7377|ICD10:C34.1|SCTID:363358000|OMIM:211980|ICD9:162.5|ICD9:162.3|UMLS:C0684249|DOID:1324|OMIM:614210|UMLS:C0007131|ICD9:162.9|OMIM:612571|ICD9:162.8|ICD10:C34.2|OMIM:608935 owl:Class MONDO:0000376 biolink:NamedThing respiratory system cancer A malignant neoplasm involving the respiratory system tmpte7i6ely_mondo_relaxed.owl malignant respiratory system neoplasm|cancer of respiratory system|malignant neoplasm of respiratory system|respiratory system cancer SCTID:449096009|DOID:0050615|UMLS:C3164456|ICD9:165.9|ICD9:165.8 owl:Class MONDO:0010954 biolink:NamedThing Wiskott-Aldrich syndrome, autosomal dominant form tmpte7i6ely_mondo_relaxed.owl Wiskott-Aldrich syndrome, autosomal dominant form UMLS:C1833170|OMIM:600903|MESH:C563431|Orphanet:906 owl:Class MONDO:0020301 biolink:NamedThing Prader-Willi syndrome due to paternal 15q11q13 deletion tmpte7i6ely_mondo_relaxed.owl Orphanet:98793|UMLS:CN207115|ICD10:Q87.1 owl:Class MONDO:0007508 biolink:NamedThing Rapp-Hodgkin syndrome A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. tmpte7i6ely_mondo_relaxed.owl anhidrotic ectodermal dysplasia with cleft lip/palate|ectodermal dysplasia, anhidrotic, with cleft lip-palate|ectodermal dysplasia, anhidrotic, with cleft Lip/palate|Rapp-Hodgkin syndrome|cleft lip with or without cleft palate, nonsyndromic, 8|orofacial cleft 8|OFC8, included|RHS|Rapp-Hodgkin ectodermal dysplasia syndrome GARD:0005690|OMIM:129400|MESH:C535289|UMLS:CN203427|SCTID:7731005|Orphanet:3022|DOID:0060330|Orphanet:1991 Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome owl:Class MONDO:0004747 biolink:NamedThing cleft lip A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. tmpte7i6ely_mondo_relaxed.owl cheiloschisis|complete unilateral cleft lip|cleft lip|cleft lip, unilateral, complete|hare lip|cleft lip (disease)|labium leporinum cleft lip (disease) DOID:9296|SCTID:80281008|ICD9:749.1|ICD9:749.11|MESH:D002971|EFO:0003959|ICD10:Q36|HP:0410030|NCIT:C87175|ICD10:Q36.9|ICD9:749.10 owl:Class MONDO:0017317 biolink:NamedThing phakomatosis pigmentokeratotica Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. tmpte7i6ely_mondo_relaxed.owl organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies|Phacomatosis pigmentokeratotica MESH:C537893|SCTID:723455009|Orphanet:2874|ICD10:Q85.8|GARD:0004311|UMLS:C2931658 owl:Class MONDO:0007030 biolink:NamedThing autosomal dominant Aarskog syndrome tmpte7i6ely_mondo_relaxed.owl Aarskog-Scott syndrome|Aarskog syndrome, autosomal dominant|Aarskog syndrome|faciogenital dysplasia ICD10:Q87.1|DOID:6683|OMIM:100050|SCTID:14921002|MESH:C535331|Orphanet:915 We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case) owl:Class HGNC:15974 biolink:NamedThing TRIM2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003241 biolink:NamedThing External genital hypoplasia Underdevelopment of part or all of the external reproductive organs. tmpte7i6ely_mondo_relaxed.owl Small genitalia|Hypogenitalism|Underdevelopment of external reproductive organs UMLS:C1855333 Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. HP:0000788|HP:0003245 human_phenotype owl:Class HP:0000811 biolink:NamedThing Abnormal external genitalia tmpte7i6ely_mondo_relaxed.owl Abnormal external genitalia UMLS:C4025825 human_phenotype owl:Class UBERON:0004910 biolink:NamedThing epithelium of male gonad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100034 biolink:NamedThing cerebral folate deficiency Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 19:01:19+00:00 owl:Class MONDO:0010733 biolink:NamedThing hereditary spastic paraplegia 2 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. tmpte7i6ely_mondo_relaxed.owl spastic gait type 2|spastic paraplegia 2, X-linked|spastic paraplegia type 2|PLP1 hereditary spastic paraplegia|X-linked spastic paraplegia type 2|X-linked spastic paraplegia 2|hereditary spastic paraplegia type 2|SPG2|spastic paraparesis type 2|hereditary spastic paraplegia caused by mutation in PLP1|spastic paraplegia 2|Sppx2 OMIM:312920|Orphanet:99015|ICD10:G11.4|GARD:0004923|DOID:0110773|UMLS:C1839264|SCTID:723622007 owl:Class MONDO:0011996 biolink:NamedThing chronic myelogenous leukemia, BCR-ABL1 positive A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. tmpte7i6ely_mondo_relaxed.owl leukemia, chronic myelogenous|chronic myeloid leukemia|leukemia, chronic myeloid, atypical|CML|BCR-ABL Positive chronic myelogenous leukemia|chronic myelogenous leukemia, BCR-ABL1 Positive|hematopoeitic - chronic myelocytic leukemia (CML)|myeloid leukemia, chronic|chronic myelogenous leukemia|chronic granulocytic leukemia|chronic myelogenous leukemias|leukemia, chronic myeloid|chronic myelogenous leukemia (CML)|chronic myelocytic leukemia|CML - chronic myelogenous leukemia NCIT:C3177|ICD10:C92.1|UMLS:C0023473|ICD9:205.1|NCIT:C3174|ICDO:9863/3|OMIM:608232|MedDRA:10009013|ONCOTREE:CML|Orphanet:521|KEGG:05220|GARD:0006105|EFO:0000339|ICDO:9875/3|DOID:8552 owl:Class MONDO:0004643 biolink:NamedThing myeloid leukemia A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. tmpte7i6ely_mondo_relaxed.owl myeloid leukemia|leukemia, granulocytic, malignant|myeloid granulocytic leukemia|myelocytic leukemia|leukemia granulocytic|myelogenous leukemia|non-lymphoblastic leukemia|non-lymphocytic leukemia|leukemia myelogenous|leukemia myeloid ICDO:9860/3|ICD10:C92|ICD9:205.80|NCIT:C3172|ICD10:C92.9|SCTID:188732008|ICD9:205|GARD:0008226|UMLS:C0023470|ICD10:C92.90|ICD9:205.9|ICD9:205.90|MESH:D007951|DOID:8692 https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia owl:Class ENVO:09200001 biolink:NamedThing temperature of air The temperature of some air. tmpte7i6ely_mondo_relaxed.owl air temperature owl:Class GO:0003341 biolink:NamedThing cilium movement The directed, self-propelled movement of a cilium. tmpte7i6ely_mondo_relaxed.owl flagellar movement|flagellar motility|microtubule-based flagellum movement|cilium beating|flagellum movement|ciliary motility owl:Class MONDO:0060768 biolink:NamedThing gingival fibroepithelial polyp A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma. tmpte7i6ely_mondo_relaxed.owl fibroepithelial polyp of the gum|fibroepithelial polyp of gingiva|gingival fibroepithelial polyp|fibroepithelial polyp of gum|fibroepithelial polyp of the gingiva|gum fibroepithelial polyp SCTID:235001002|NCIT:C4693|UMLS:C0399441 owl:Class MONDO:0003396 biolink:NamedThing epulis A non-neoplastic nodular lesion that arises from the gingiva. tmpte7i6ely_mondo_relaxed.owl epulides|polyp of gingiva|gingival polyp|gum polyp|polyp of the gingiva|gingiva polyp|polyp of gum|polyp of the gum NCIT:C3948|ICD9:523.8|UMLS:C0266919|MESH:D005882|DOID:5337|SCTID:45676007 owl:Class GO:1902018 biolink:NamedThing negative regulation of cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. tmpte7i6ely_mondo_relaxed.owl down-regulation of cilium assembly|down-regulation of cilium biogenesis|down regulation of cilium biogenesis|inhibition of ciliogenesis|negative regulation of cilium biogenesis|down regulation of ciliogenesis|inhibition of cilium biogenesis|downregulation of cilium assembly|downregulation of ciliogenesis|inhibition of cilium assembly|negative regulation of ciliogenesis|down-regulation of ciliogenesis|down regulation of cilium assembly|downregulation of cilium biogenesis owl:Class FOODON:03305803 biolink:NamedThing goat milk (raw) tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F5803 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class UBERON:0001913 biolink:NamedThing milk An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. tmpte7i6ely_mondo_relaxed.owl mammary gland milk|mammal milk owl:Class MONDO:0019121 biolink:NamedThing pneumocystosis Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. tmpte7i6ely_mondo_relaxed.owl Pneumocystis carinii pneumonia|pneumocystosis|Pneumocystis|PJP|PCP|pulmonary pneumocystosis|Pneumocystis pneumonia|pneumocystosis pneumonia|Pneumocystis jirovecii pneumonia Orphanet:723|GARD:0004386|ICD10:B59|UMLS:C1535939|DOID:11339|ICD9:136.3|SCTID:415125002|MESH:D011020|ICD10:J17.3*|ICD10:B59+|NCIT:C3334|EFO:0007448 https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis owl:Class MONDO:0008269 biolink:NamedThing polydactyly of a biphalangeal thumb Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. tmpte7i6ely_mondo_relaxed.owl polydactyly, preaxial 1|thumb polydactyly|preaxial polydactyly type 1|polydactyly preaxial 1|polydactyly, preaxial I|PPD1|Fromont anomaly|polydactyly, preaxial type 1|preaxial polydactyly 1|thenar hypoplasia MESH:C536332|Orphanet:93339|SCTID:445216006|OMIM:174400|GARD:0004417|ICD10:Q69.1 owl:Class MONDO:0017425 biolink:NamedThing preaxial polydactyly of fingers Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity. tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly of hand ICD10:Q69.1|GARD:0012767|OMIMPS:174400|Orphanet:294939 https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers owl:Class CHEBI:22313 biolink:NamedThing alkaline earth metal atom tmpte7i6ely_mondo_relaxed.owl alkaline-earth metal|metal alcalinoterreo|alkaline earth metals|alkaline earth metal|metal alcalino-terreux|Erdalkalimetall|Erdalkalimetalle|metaux alcalino-terreux|alkaline-earth metals|metales alcalinoterreos owl:Class CHEBI:33521 biolink:NamedThing metal atom An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. tmpte7i6ely_mondo_relaxed.owl metals|elemental metal|metal element|elemental metals|metal elements owl:Class GO:0051339 biolink:NamedThing regulation of lyase activity Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. tmpte7i6ely_mondo_relaxed.owl lyase regulator owl:Class MONDO:0019868 biolink:NamedThing mosaic trisomy 10 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. tmpte7i6ely_mondo_relaxed.owl mosaic trisomy 10|chromosome 10, uniparental disomy|Mosaic trisomy chromosome 10|uniparental disomy of 10|Mosaic trisomy type 10|trisomy 10 mosaicism ICD10:Q92.1|Orphanet:96063|UMLS:CN035866|SCTID:764461004|GARD:0005406|MESH:C538292 owl:Class CL:0002432 biolink:NamedThing CD24-positive, CD4 single-positive thymocyte A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpte7i6ely_mondo_relaxed.owl CD24-positive, CD4 single-positive semimature thymocyte|T.4SP24int.Th Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:43:52Z cell owl:Class CL:0009000 biolink:NamedThing sensory neuron of spinal nerve A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord. tmpte7i6ely_mondo_relaxed.owl spinal sensory neuron owl:Class MONDO:0015302 biolink:NamedThing nodular cutaneous amyloidosis Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome. tmpte7i6ely_mondo_relaxed.owl amyloidosis cutis nodularis atrophicans|primary localized cutaneous nodular amyloidosis|NLCA|PLCNA|amyloidosis nodular localized cutaneous ICD10:E85.4+|ICD10:L99.0*|SCTID:716704007|UMLS:C0546394|GARD:0010562|UMLS:C4274331|Orphanet:137810|MedDRA:10056953 https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous owl:Class CL:0000573 biolink:NamedThing retinal cone cell One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision. tmpte7i6ely_mondo_relaxed.owl FMA:67748|BTO:0001036|CALOHA:TS-0866 cell owl:Class CL:0010009 biolink:NamedThing camera-type eye photoreceptor cell tmpte7i6ely_mondo_relaxed.owl camera type eye photoreceptor cell owl:Class UBERON:0002118 biolink:NamedThing right ovary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003307 biolink:NamedThing multiple mucosal neuroma tmpte7i6ely_mondo_relaxed.owl multiple mucosal neuromas DOID:5155|NCIT:C6559|UMLS:C1334828 owl:Class MONDO:0002173 biolink:NamedThing neuroma A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. tmpte7i6ely_mondo_relaxed.owl UMLS:C0027858|NCIT:C3275|DOID:2001|MESH:D009463|SCTID:443892003|ICD9:215.9|ICDO:9570/0 Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split owl:Class MONDO:0009691 biolink:NamedThing mycosis fungoides Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. tmpte7i6ely_mondo_relaxed.owl mycosis fungoides, Alibert-Bazin type|cutaneous T-cell lymphoma/mycosis fungoides|mycosis fungoides lymphoma|mycosis fungoides|Alibert-Bazin syndrome|mycosis fungoides NOS (morphologic abnormality)|classic mycosis fungoides|mycosis fungoides of unspecified site|MF|mycosis fungoides, unspecified site, extranodal and solid organ sites|granuloma fungoides|CTCL/ mycosis fungoides|mycosis fungoides (morphologic abnormality) GARD:0003863|UMLS:C0026948|MedDRA:10028483|SCTID:118618005|ICD9:202.1|EFO:1001051|Orphanet:2584|ICDO:9700/3|NCIT:C3246|DOID:8691|ICD10:C84.00|OMIM:254400|MESH:D009182|ONCOTREE:MYCF|ICD10:C84.0 https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides owl:Class MONDO:0000607 biolink:NamedThing primary cutaneous T-cell non-Hodgkin lymphoma A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. tmpte7i6ely_mondo_relaxed.owl cutaneous T cell lymphoma|T-cell non-Hodgkin's lymphoma of skin|primary cutaneous T-cell non-Hodgkin's lymphoma|PCTCL|cutaneous T-cell lymphoma|skin T-cell non-Hodgkin's lymphoma|T-cell non-Hodgkin's lymphoma of the skin|primary cutaneous T-cell non-Hodgkin lymphoma|cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell non-Hodgkin lymphoma|CTCL DOID:0060061|EFO:0002913|ICDO:9709/3|NCIT:C3467|MESH:D016410 owl:Class MONDO:0018580 biolink:NamedThing PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:616158|UMLS:CN237608|ICD10:G40.4|Orphanet:438213 owl:Class MONDO:0021241 biolink:NamedThing buccal mucosa neoplasm A neoplasm (disease) that involves the buccal mucosa. tmpte7i6ely_mondo_relaxed.owl tumor of the buccal mucosa|buccal mucosa tumor|tumor of buccal mucosa|neoplasm of buccal mucosa|buccal mucosa neoplasm (disease)|neoplasm of the buccal mucosa NCIT:C4405|SCTID:126802007|UMLS:C0345563 owl:Class MONDO:0044992 biolink:NamedThing mouth mucosa disorder A disease or disorder that involves the mouth mucosa. tmpte7i6ely_mondo_relaxed.owl disease or disorder of mouth mucosa|disorder of oral mucous membrane|disorder of mouth mucosa|disease of mouth mucosa|mouth mucosa disease or disorder|oral mucous membrane disease SCTID:128046007|UMLS:C1290071 owl:Class MONDO:0018954 biolink:NamedThing Loeys-Dietz syndrome Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. tmpte7i6ely_mondo_relaxed.owl aortic aneurysm syndrome due to TGF-beta receptors anomalies|Loeys-Dietz syndrome|aortic aneurysm syndrome, Loeys-Dietz type DOID:0050466|UMLS:C2697932|ICD10:Q87.4|OMIMPS:609192|OMIM:613795|OMIM:609192|NCIT:C75006|SCTID:446263001|GARD:0010788|Orphanet:60030|OMIM:610168|MESH:D055947|ICD9:759.89|OMIM:614816 owl:Class MONDO:0008267 biolink:NamedThing orofaciodigital syndrome V Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome type V|orofaciodigital syndrome, Thurston type|Ofds 5|orofaciodigital syndrome Thurston type|polydactyly postaxial with median cleft of upper lip|Thurston syndrome|OFD5|orofaciodigital syndrome V|oral-Facial-digital syndrome, type 5|oral facial digital syndrome 5|orofaciodigital syndrome 5|oral facial digital syndrome type 5|orofaciodigital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome 5|OFD syndrome 5|polydactyly, postaxial, with Median cleft of upper lip|oral-facial-digital syndrome type 5 MESH:C557819|ICD10:Q87.0|SCTID:722105002|DOID:0060375|GARD:0004120|UMLS:C1868118|Orphanet:2919|OMIM:174300 https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 owl:Class UBERON:0012141 biolink:NamedThing manual digitopodium region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012140 biolink:NamedThing digitopodium region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003352 biolink:NamedThing colon sarcoma A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. tmpte7i6ely_mondo_relaxed.owl colon sarcoma|colonic sarcoma|sarcoma of the colon|sarcoma of colon UMLS:C1333098|NCIT:C5495|DOID:5260 owl:Class UBERON:8300004 biolink:NamedThing left hindlimb tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010954 biolink:NamedThing positive regulation of protein processing Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein maturation by peptide bond cleavage owl:Class HGNC:10856 biolink:NamedThing SI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001922 biolink:NamedThing pyoureter An abscess that is located in the ureter. tmpte7i6ely_mondo_relaxed.owl ureter abscess ICD9:593.89|UMLS:C0034223|DOID:1425|NCIT:C35666|SCTID:85884009 owl:Class MONDO:0001926 biolink:NamedThing ureteral disorder A non-neoplastic or neoplastic disorder affecting the ureter. tmpte7i6ely_mondo_relaxed.owl ureteric disease|disease or disorder of ureter|ureteric disorder|ureter disease or disorder|ureter disease|ureter disorder|disorder of ureter|disease of ureter DOID:1426|NCIT:C27148|UMLS:C0403608|MESH:D014515|UMLS:C0041954|SCTID:128073008 owl:Class UBERON:0001533 biolink:NamedThing subclavian artery tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1963758 biolink:NamedThing Myomorpha tmpte7i6ely_mondo_relaxed.owl Sciurognathi|mice and others GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9989 biolink:NamedThing Rodentia tmpte7i6ely_mondo_relaxed.owl rodents|rodent GC_ID:1 ncbi_taxonomy owl:Class GO:0030098 biolink:NamedThing lymphocyte differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpte7i6ely_mondo_relaxed.owl lymphocyte development|lymphocytic blood cell differentiation|lymphocyte cell differentiation owl:Class GO:1903131 biolink:NamedThing mononuclear cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003536 biolink:NamedThing right lung alveolar duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002173 biolink:NamedThing pulmonary alveolar duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000980 biolink:NamedThing aortic atherosclerosis A atherosclerosis that involves the aorta. tmpte7i6ely_mondo_relaxed.owl aortic atherosclerosis|aortic atherosclerosis (disease)|atherosclerosis of aorta|aorta atherosclerosis aortic atherosclerosis (disease) DOID:10230|UMLS:C0155733|ICD9:440.0|SCTID:81817003|HP:0012397|ICD10:I70.0 owl:Class MONDO:0005561 biolink:NamedThing aortic disorder Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) tmpte7i6ely_mondo_relaxed.owl aortic disorder|disorder of the aorta|disorder of aorta|disease or disorder of aorta|disease of aorta|aorta disease|aorta disease or disorder UMLS:C0003493|NCIT:C101253|ICD9:447.9|MESH:D001018|EFO:0005775|SCTID:47040006|DOID:520 owl:Class MONDO:0012149 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl attention deficit-hyperactivity disorder, susceptibility to, 1|Adhd1|attention Deficit-hyperactivity disorder, susceptibility to, type 1 OMIM:608903 owl:Class MONDO:0007250 biolink:NamedThing camptodactyly of fingers Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. tmpte7i6ely_mondo_relaxed.owl camptodactyly 1|streblodactyly|CAMPD1|camptodactyly and knuckle pads|crooked little finger, familial|familial streblodactyly|minor streblomicrodactyly, familial OMIM:114200|ICD10:Q68.1|MESH:C567780|GARD:0009448|ICD9:755.59|MESH:C536852|SCTID:29271008|Orphanet:295016 https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly owl:Class MONDO:0017428 biolink:NamedThing congenital deformities of fingers tmpte7i6ely_mondo_relaxed.owl Orphanet:294947|ICD10:Q68.1 owl:Class MONDO:0007573 biolink:NamedThing acute erythroleukemia, familial An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl Di Guglielmo disease, familial|ERYTHROLEUKEMIA, familial|hereditary acute erythroid leukemia|leukemia, acute myelogenous, M6 OMIM:133180|EFO:0000218|ICD9:207.0|MESH:C565039|Orphanet:318|UMLS:C0023440|NCIT:C8923 owl:Class MONDO:0017893 biolink:NamedThing inherited acute myeloid leukemia An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary acute myeloid leukemia|Pure familial acute myeloid leukemia|inherited AML|familial AML|Pure familial AML SCTID:764940002|ICD10:C92.0|OMIM:601626|UMLS:CN203946|Orphanet:319465 owl:Class MONDO:0007621 biolink:NamedThing floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. tmpte7i6ely_mondo_relaxed.owl Pelletier-Leisti syndrome|floating-HARBOR syndrome|floating-Harbor syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|FHS|FLHS UMLS:C0729582|Orphanet:2044|MESH:C537062|GARD:0006455|SCTID:312214005|ICD10:Q87.8|DOID:0111358|ICD9:759.89|OMIM:136140 https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome owl:Class MONDO:0017043 biolink:NamedThing congenital mesoblastic nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. tmpte7i6ely_mondo_relaxed.owl congenital mesoblastic nephroma|CMn|stromal nephroma, malignant|mesoblastic nephroma Orphanet:2665|ICD10:D41.0|SCTID:307604008|GARD:0001493|MedDRA:10070665|ICDO:8960/1|MESH:D018201|NCIT:C6569|DOID:4773|UMLS:C1332965 https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma owl:Class UBERON:0001723 biolink:NamedThing tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012817 biolink:NamedThing Ewing sarcoma A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. tmpte7i6ely_mondo_relaxed.owl Ewing's family localized tumor|Ewings sarcoma|ES|localized Ewing's sarcoma|PNET of Thoracopulmonary region|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|localized Ewing's tumor|Ewing sarcoma|localized peripheral primitive neuroectodermal tumor|sarcoma, Ewing's|Ewing tumor|localized Ewing sarcoma|Ewing's tumor|neuroepithelioma, peripheral|Ewing's sarcoma|Ewings sarcoma-primitive neuroectodermal tumor ICD10:C41.4|ICD10:C40.3|ICD10:C40.1|MedDRA:10015560|OMIM:612219|ICD10:C41.3|Orphanet:319|DOID:3369|Orphanet:2677|UMLS:C3489398|ICD10:C40.2|EFO:0000174|ICD10:C40.0|ICDO:9260/3|ONCOTREE:ES|NCIT:C9341|UMLS:C0684337|ICD10:C41.2|NCIT:C4817|UMLS:C0553580|MESH:D012512|GARD:0006390|DOID:0050608 owl:Class MONDO:0021038 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. tmpte7i6ely_mondo_relaxed.owl Ewing family of tumors|Ewing sarcoma/peripheral primitive neuroectodermal tumor|EFTs|tumors of the Ewing's family|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing's family of tumours|Ewing sarcoma family of tumors|Ewing's family of tumors|tumors of Ewing's family|Ewing sarcoma/peripheral PNET UMLS:C3536893|UMLS:C0684337|NCIT:C27291 owl:Class MONDO:0014558 biolink:NamedThing autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 32|autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|intellectual disability, autosomal dominant type 32|intellectual disability, autosomal dominant 32|autosomal dominant intellectual disability 32|KAT6A Syndrome|autosomal dominant non-syndromic intellectual disability 32|mental retardation, autosomal dominant type 32|mental retardation, autosomal dominant 32|MRD32 DOID:0070062|Orphanet:457193|OMIM:616268 owl:Class GO:0030659 biolink:NamedThing cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008579 biolink:NamedThing toes, relative length of first and second tmpte7i6ely_mondo_relaxed.owl toes, relative length of first and second OMIM:189200 owl:Class NCBITaxon:6687 biolink:NamedThing Penaeus monodon tmpte7i6ely_mondo_relaxed.owl Penaeus carinatus|black tiger shrimp|giant tiger prawn|tiger prawn|Penaeus durbani|Penaeus (Penaeus) monodon|Penaeus bubulus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:133894 biolink:NamedThing Penaeus tmpte7i6ely_mondo_relaxed.owl Marsupenaeus|Litopenaeus|Farfantepenaeus|Melicertus|Fenneropenaeus GC_ID:1 NCBITaxon:85653|NCBITaxon:122377|NCBITaxon:133900|NCBITaxon:133896|NCBITaxon:133898 ncbi_taxonomy owl:Class MONDO:0043096 biolink:NamedThing holoacardius amorphus tmpte7i6ely_mondo_relaxed.owl amorphous globosus|amorphus globosus|Holoacardius amorphus|fetus anideus GARD:0002720|SCTID:41049003|Orphanet:2161 owl:Class MONDO:0022357 biolink:NamedThing congenital acardia tmpte7i6ely_mondo_relaxed.owl acardia|congenital absence of the heart ICD9:759.89|SCTID:205834002|GARD:0009823 Editor note: axiomatize using HPO; check parent class MONDO:0002254 https://rarediseases.info.nih.gov/diseases/9823/acardia owl:Class MONDO:0100330 biolink:NamedThing disease arising from reactivation of latent virus An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase. tmpte7i6ely_mondo_relaxed.owl latent infection http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3251|https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0013055 biolink:NamedThing Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features tmpte7i6ely_mondo_relaxed.owl Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features MESH:C548086|GARD:0010683|OMIM:612948|UMLS:C2751864 https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features owl:Class MONDO:0011334 biolink:NamedThing limb-mammary syndrome Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. tmpte7i6ely_mondo_relaxed.owl mammary hypoplasia, ectrodactyly, and other hand/foot anomalies|limb-mammary syndrome|LMS MESH:C535903|Orphanet:69085|GARD:0010051|OMIM:603543|SCTID:721972001 owl:Class ECTO:0500025 biolink:NamedThing exposure to manufactured product A exposure event involving the interaction of an exposure receptor to manufactured product. tmpte7i6ely_mondo_relaxed.owl manufactured product exposure owl:Class MONDO:0044986 biolink:NamedThing lymphoid system disorder A disease or disorder that involves the lymphoid system. tmpte7i6ely_mondo_relaxed.owl disorder of lymphoid system|disease of lymphoid system|disease or disorder of lymphoid system|lymphoid system disease or disorder|lymphoid system disease SCTID:111590001 owl:Class CHEBI:35620 biolink:NamedThing vasodilator agent A drug used to cause dilation of the blood vessels. tmpte7i6ely_mondo_relaxed.owl vasodilator|vasodilator agents owl:Class MONDO:0007969 biolink:NamedThing Melkersson-Rosenthal syndrome The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. tmpte7i6ely_mondo_relaxed.owl Melkersson-Rosenthal syndrome|Melkersson's syndrome|MRS|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal|Mros|cheilitis Granulomatosa|Melkersson syndrome Orphanet:2483|ICD10:G51.2|NCIT:C84886|DOID:1761|OMIM:155900|UMLS:C0025235|EFO:1001039|GARD:0007010|MESH:D008556|MedDRA:10027166 https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome owl:Class MONDO:0002102 biolink:NamedThing cheilitis An inflammatory process affecting the lip. tmpte7i6ely_mondo_relaxed.owl lip inflammation|inflammation of lip MESH:D002613|NCIT:C79545|UMLS:C0007971|DOID:1762|HP:0100825|SCTID:7847004|ICD10:K13.0 owl:Class UBERON:0004414 biolink:NamedThing proximal epiphysis of phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001870 biolink:NamedThing positive regulation of complement activation, lectin pathway Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway. tmpte7i6ely_mondo_relaxed.owl upregulation of complement activation, lectin pathway|stimulation of complement activation, lectin pathway|positive regulation of complement cascade, lectin pathway|up-regulation of complement activation, lectin pathway|up regulation of complement activation, lectin pathway|activation of complement activation, lectin pathway owl:Class GO:0045089 biolink:NamedThing positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpte7i6ely_mondo_relaxed.owl stimulation of innate immune response|up-regulation of innate immune response|upregulation of innate immune response|up regulation of innate immune response owl:Class MONDO:0007817 biolink:NamedThing IgE responsiveness, atopic Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. tmpte7i6ely_mondo_relaxed.owl type I hypersensitivity|type 1 hypersensitivity reaction|type I hypersensitivity reaction|IgE, level of|IgE responsiveness, atopic|type 1 hypersensitivity|IgE, elevated level of|atopy, susceptibility to|IgE response underlying allergic asthma and rhinitis|IGER|Immunoglobulin E, basic level of, in serum|IgE responsiveness, ATOPIC|immediate hypersensitivity|Atopic hypersensitivity|type I immediate hypersensitivity reaction UMLS:C1840253|OMIM:147050|NCIT:C3116 owl:Class HP:0001595 biolink:NamedThing Abnormal hair morphology An abnormality of the hair. tmpte7i6ely_mondo_relaxed.owl Hair abnormality|Abnormality of the hair|Abnormality of the hair shaft UMLS:C2677869|UMLS:C0157733 human_phenotype owl:Class HP:0011138 biolink:NamedThing Abnormality of skin adnexa morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpte7i6ely_mondo_relaxed.owl Abnormal skin appendage UMLS:C4023518 peter 2011-06-19T06:25:34Z human_phenotype owl:Class MONDO:0009470 biolink:NamedThing Baraitser-Winter syndrome 1 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene. tmpte7i6ely_mondo_relaxed.owl cerebrofrontofacial syndrome|iris coloboma with ptosis, hypertelorism, and intellectual disability|Baraitser-Winter syndrome type 1|ACTB-related BAFopathy|Baraitser-Winter syndrome 1|ACTB Baraitser-Winter cerebrofrontofacial syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|iris coloboma with ptosis, hypertelorism, and mental retardation|Baraitser-WINTER syndrome 1|Fryns-Aftimos syndrome|cerebrooculofacial lymphatic syndrome|mental retardation with epilepsy and characteristic facies|intellectual disability with epilepsy and characteristic facies|pachygyria, intellectual disability, epilepsy, and characteristic facies|BRWS1|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|chromosome 7P22 deletion syndrome OMIM:243310|UMLS:C1853623|UMLS:C1837819|Orphanet:2995 owl:Class MONDO:0017579 biolink:NamedThing Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients. tmpte7i6ely_mondo_relaxed.owl trigonocephaly ptosis intellectual disability|trigonocephaly ptosis mental retardation|cerebro-frontofacial syndrome, type 3|trigonocephaly ptosis coloboma|Baraitser-winter syndrome|iris coloboma with ptosis hypertelorism and mental retardation|Fryns-Aftimos syndrome|BRWS|iris coloboma with ptosis hypertelorism and intellectual disability OMIM:243310|ICD9:759.89|OMIMPS:243310|OMIM:614583|GARD:0005279|Orphanet:2995|ICD10:Q87.0|DOID:0060229|SCTID:702410002 https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome owl:Class MONDO:0060711 biolink:NamedThing Jaberi-Elahi syndrome tmpte7i6ely_mondo_relaxed.owl JABELS|Jaberi-Elahi syndrome OMIM:617988|UMLS:CN244943 owl:Class MONDO:0013324 biolink:NamedThing lymphedema-posterior choanal atresia syndrome tmpte7i6ely_mondo_relaxed.owl choanal atresia and lymphedema|CATLPH UMLS:C3150875|Orphanet:99141|OMIM:613611|ICD10:Q82.0 owl:Class NCBITaxon:3193 biolink:NamedThing Embryophyta tmpte7i6ely_mondo_relaxed.owl plants|higher plants|land plants GC_ID:1 ncbi_taxonomy owl:Class UBERON:0016512 biolink:NamedThing lumen of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009235 biolink:NamedThing familial benign flecked retina Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. tmpte7i6ely_mondo_relaxed.owl FLECK retina, familial benign|FRFB Orphanet:363989|ICD10:H35.5|OMIM:228980|MESH:C565564|DOID:0111677|UMLS:C1856718 owl:Class MONDO:0017061 biolink:NamedThing closed iniencephaly tmpte7i6ely_mondo_relaxed.owl Orphanet:268366|SCTID:203927003|ICD10:Q00.2 owl:Class MONDO:0018968 biolink:NamedThing iniencephaly Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. tmpte7i6ely_mondo_relaxed.owl GARD:0010506|SCTID:2438005|NCIT:C124549|ICD10:Q00.2|MedDRA:10022034|ICD9:740.2|Orphanet:63259|UMLS:C0152234 https://rarediseases.info.nih.gov/diseases/10506/iniencephaly owl:Class MONDO:0002217 biolink:NamedThing central nervous system sarcoma A sarcoma that arises from the central nervous system. tmpte7i6ely_mondo_relaxed.owl sarcoma of the central nervous system|central nervous system sarcoma|sarcoma of the CNS|sarcoma of CNS|CNS sarcoma|sarcoma of central nervous system NCIT:C5153|UMLS:C1332892|DOID:2133 owl:Class GO:2000258 biolink:NamedThing negative regulation of protein activation cascade Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade. tmpte7i6ely_mondo_relaxed.owl negative regulation of protein activation pathway|negative regulation of protein activitory cascade owl:Class HP:0030956 biolink:NamedThing Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. tmpte7i6ely_mondo_relaxed.owl 2017-03-17 17:47:04+00:00 robinp human_phenotype owl:Class MONDO:0013914 biolink:NamedThing hypogonadotropic hypogonadism 12 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21. tmpte7i6ely_mondo_relaxed.owl HH12|gonadotropin deficiency familial idiopathic|eunuchoidism familial hypogonadotropic|FIGD|hypogonadotropic hypogonadism 12 with or without anosmia|gonadotropin deficiency, familial idiopathic|familial hypogonadotrophic eunuchoidism|eunuchoidism, familial hypogonadotropic|familial hypogonadotropic eunuchoidism|familial idiopathic gonadotrpin deficiency DOID:0090072|GARD:0000276|OMIM:614841|MESH:C535764|ICD10:E23.0|UMLS:C1856897 https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic owl:Class MONDO:0018737 biolink:NamedThing catastrophic antiphospholipid syndrome tmpte7i6ely_mondo_relaxed.owl catastrophic APS|caps UMLS:CN242096|GARD:0009820|ICD9:289.81|ICD10:D68.6|SCTID:609329007|Orphanet:464343|UMLS:C3662487 owl:Class MONDO:8000010 biolink:NamedThing antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. tmpte7i6ely_mondo_relaxed.owl familial lupus anticoagulant|Hughes syndrome|lupus anticoagulant, familial|antiphospholipid antibody syndrome|antiphospholipid syndrome UMLS:C0085278|DOID:2988|Orphanet:80|ICD9:279.49|GARD:0005824|SCTID:26843008|MESH:D016736|ICD10:D68.61|NCIT:C61283|OMIM:107320 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016167 biolink:NamedThing optic pathway glioma Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1). tmpte7i6ely_mondo_relaxed.owl visual pathway glioma|glioma of optic tract|glioma of the optic tract|glioma of visual pathway|optic pathway glioma|optic tract glioma|glioma of the visual pathway UMLS:C0796418|GARD:0004107|ICD10:D33.3|NCIT:C8567|Orphanet:2086 https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma owl:Class UBERON:0004346 biolink:NamedThing gubernaculum (male or female) tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002352 biolink:NamedThing Leukoencephalopathy This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. tmpte7i6ely_mondo_relaxed.owl MSH:D056784|SNOMEDCT_US:22811006|UMLS:C0270612 This feature can be demonstrated by magnetic resonance imaging or computer tomography. HP:0006838|HP:0007073 human_phenotype owl:Class HP:0002060 biolink:NamedThing Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. tmpte7i6ely_mondo_relaxed.owl Abnormality of the telencephalon|Cerebral lesion|Abnormality of the cerebrum UMLS:C4021762 human_phenotype owl:Class MONDO:0033308 biolink:NamedThing Joubert syndrome 30 tmpte7i6ely_mondo_relaxed.owl JBTS30|Joubert syndrome 30 Orphanet:475|DOID:0080275|OMIM:617622 owl:Class MONDO:0009858 biolink:NamedThing Pfeiffer-Palm-Teller syndrome Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Pfeiffer Palm Teller syndrome|Pfeiffer-Palm-Teller syndrome|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice|PPT syndrome SCTID:726672000|GARD:0004305|ICD10:Q87.1|UMLS:C1849929|OMIM:261560|Orphanet:2871|MESH:C537889 https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome owl:Class MONDO:0009608 biolink:NamedThing methionine malabsorption syndrome tmpte7i6ely_mondo_relaxed.owl Smith-strang disease|methionine malabsorption syndrome|oasthouse urine disease UMLS:C0268622|OMIM:250900|SCTID:45812003|MESH:C562682 owl:Class MONDO:0044720 biolink:NamedThing cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome tmpte7i6ely_mondo_relaxed.owl CANVAS|CABV syndrome|cerebellar ataxia with bilateral vestibulopathy syndrome Orphanet:504476 owl:Class MONDO:0010001 biolink:NamedThing ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl RODRIGUES blindness|microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities MESH:C535865|ICD10:Q87.8|GARD:0000293|OMIM:268320|UMLS:C1849332|Orphanet:1806 owl:Class UBERON:0010569 biolink:NamedThing manual digit 5 metacarpus pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031324 biolink:NamedThing negative regulation of cellular metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpte7i6ely_mondo_relaxed.owl down regulation of cellular metabolic process|inhibition of cellular metabolic process|negative regulation of cellular metabolism|downregulation of cellular metabolic process|down-regulation of cellular metabolic process owl:Class MONDO:0000644 biolink:NamedThing cervical benign neoplasm A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the cervix uteri|benign cervical neoplasm|benign tumor of the uterine cervix|benign uterine cervix tumor|benign neoplasm of uterine cervix|benign tumor of the cervix uteri|benign cervix uteri neoplasm|benign neoplasm of the uterine cervix|benign uterine cervix neoplasm|benign neoplasm of cervix uteri|benign tumor of cervix uteri|uterine cervix benign neoplasm|benign tumor of uterine cervix|benign cervix uteri tumor NCIT:C3607|DOID:0060110|SCTID:92056006|UMLS:C0153997 owl:Class MONDO:0017858 biolink:NamedThing acute erythroid leukemia An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl erythroblastic leukemia|AEL|acute myeloid leukemia FAB-M6|M6 acute myeloid leukemia|acute erythroid leukemia|acute erythroleukemia|AML-M6|FAB M6|leukemia, erythroid, malignant|Di Guglielmo syndrome|acute erythroleukemia M6a subtype|Di Guglielmo's syndrome|acute erythroleukemia M6b subtype|AML M6|Erythroleukemia|acute myeloid leukemia M6|acute erythroblastic leukemia MESH:D004915|Orphanet:318|ICD9:205.80|SCTID:93451002|NCIT:C8923|ICD9:207.00|UMLS:C0023440|ICD10:C94.0|GARD:0009620|GARD:0009750|ICDO:9840/3|OMIM:133180 https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome|https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia owl:Class MONDO:0015667 biolink:NamedThing acute myeloid leukemia by FAB classification Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. tmpte7i6ely_mondo_relaxed.owl AML, NOS|acute myeloid leukemia NOS|acute myeloid leukemia|acute myeloid leukemia, NOS|unclassified acute myeloid leukemia|unclassified AML|acute myeloid leukemia not otherwise categorized|acute myeloid leukemia not otherwise specified NCIT:C27753|GARD:0012760|OMIM:601626|Orphanet:167714 https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia owl:Class MONDO:0006745 biolink:NamedThing endometrioid stromal sarcoma A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl undifferentiated endometrial sarcoma|endometrial stromal sarcoma, high grade|stromal sarcoma, endometrial, malignant|endometrial stromal sarcoma|stromal sarcomas, endometrial|sarcomas, endometrial stromal|stromal sarcoma of the corpus uteri|endometrial stromal sarcomas|endometrioid stromal sarcoma|stromal sarcoma, endometrial|ess ICDO:8930/3|NCIT:C8973|DOID:4226|GARD:0006339|ICD10:C54.1|ONCOTREE:ESS|SCTID:699356008|MedDRA:10057649|Orphanet:213711|UMLS:C0206630|EFO:1000919|MESH:D018203|UMLS:C2239246|MedDRA:10048397 https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma owl:Class GO:0093001 biolink:NamedThing glycolysis from storage polysaccharide through glucose-1-phosphate The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019471 biolink:NamedThing adult T-cell leukemia/lymphoma A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. tmpte7i6ely_mondo_relaxed.owl adult T-cell leukemia|adult T-cell leukaemia|adult T-cell lymphoma|adult T cell lymphoma/leukemia|T-cell leukemia of adults|HTLV-I associated adult T-cell leukemia/lymphoma|HTLV-1 associated adult T-cell lymphoma/leukemia|ATLL|adult T-cell leukemia/lymphoma|adult T-cell leukaemia/lymphoma (HTLV-1 positive)|adult T-cell lymphoma/leukemia GARD:0013103|NCIT:C3184|ICDO:9827/3|ONCOTREE:ATLL|DOID:0050523|ICD10:C91.50|ICD10:C91.5|MedDRA:10001413|Orphanet:86875|SCTID:110007008|ICD9:204.80|UMLS:C0023493 owl:Class MONDO:0005801 biolink:NamedThing human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. tmpte7i6ely_mondo_relaxed.owl HTLV-1|Human T-lymphotropic virus 1 caused disease or disorder|Human T lymphotropic virus type 1|Human T-lymphotropic virus 1 disease or disorder|Human T-lymphotropic virus 1 infectious disease|human T-lymphotropic virus 1 infectious disease MESH:D015490|UMLS:C0020097|GARD:0009645|EFO:0007316 owl:Class MONDO:0003866 biolink:NamedThing liver extraskeletal osteosarcoma An osteosarcoma arising from the liver. tmpte7i6ely_mondo_relaxed.owl hepatic osteogenic sarcoma|liver osteogenic sarcoma|hepatic extraskeletal osteosarcoma|hepatic osteosarcoma|liver osteosarcoma|osteogenic sarcoma of liver|liver osteosarcoma (disease)|liver extraskeletal osteosarcoma|osteogenic sarcoma of the liver|osteosarcoma of liver|osteosarcoma of the liver UMLS:C1333974|DOID:6370|NCIT:C5833 owl:Class MONDO:0012677 biolink:NamedThing atrial fibrillation, familial, 4 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene. tmpte7i6ely_mondo_relaxed.owl KCNE2 familial atrial fibrillation|ATFB4|atrial fibrillation, familial, 4|atrial fibrillation, familial, type 4|familial atrial fibrillation caused by mutation in KCNE2 MESH:C566244|Orphanet:334|OMIM:611493|UMLS:C1862394 owl:Class CHEBI:35441 biolink:NamedThing antiinfective agent A substance used in the prophylaxis or therapy of infectious diseases. tmpte7i6ely_mondo_relaxed.owl antiinfective agents|antiinfective drug|anti-infective agents|anti-infective drugs owl:Class MONDO:0021292 biolink:NamedThing carcinoma in situ of gastric body A in situ carcinoma that involves the body of stomach. tmpte7i6ely_mondo_relaxed.owl gastric body carcinoma in situ|stage 0 gastric body carcinoma|gastric body carcinoma in situ aJCC v6 and v7|stage 0 body of stomach carcinoma|carcinoma in situ of the gastric body|body of stomach in situ carcinoma|carcinoma in situ of body of stomach|body of stomach carcinoma in situ|carcinoma in situ of the body of the stomach NCIT:C4430|SCTID:92549006|UMLS:C0345805 owl:Class GO:0004092 biolink:NamedThing carnitine O-acetyltransferase activity Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA. tmpte7i6ely_mondo_relaxed.owl carnitine O-acetyltransferase II activity|carnitine O-acetyltransferase I activity|carnitine acetyl coenzyme A transferase activity|CATC|acetylcarnitine transferase activity|carnitine acetyltransferase activity|carnitine acetylase activity|carnitine-acetyl-CoA transferase activity|acetyl-CoA:carnitine O-acetyltransferase activity|acetyl-CoA-carnitine O-acetyltransferase activity owl:Class GO:0016413 biolink:NamedThing O-acetyltransferase activity Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001054 biolink:NamedThing CD14-positive monocyte A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. tmpte7i6ely_mondo_relaxed.owl monocyte This cell type is compatible with the HIPC Lyoplate markers for 'monocyte'. Note that while CD14 is considered a reliable marker for human monocytes, it is only expressed on approximately 85% of mouse monocytes. cell owl:Class CL:0000576 biolink:NamedThing monocyte Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpte7i6ely_mondo_relaxed.owl FMA:62864|CALOHA:TS-0638|BTO:0000876 Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0023143 biolink:NamedThing fetal enterovirus syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002302 https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome owl:Class HP:0000819 biolink:NamedThing Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance. tmpte7i6ely_mondo_relaxed.owl UMLS:C0011849|SNOMEDCT_US:73211009|MSH:D003920 HP:0008234|HP:0004908|HP:0008260|HP:0008217 human_phenotype owl:Class HP:0001952 biolink:NamedThing Glucose intolerance Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). tmpte7i6ely_mondo_relaxed.owl Abnormal glucose tolerance|Glucose intolerance UMLS:C0235401 HP:0000833 human_phenotype owl:Class GO:0043413 biolink:NamedThing macromolecule glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070085 biolink:NamedThing glycosylation The covalent attachment and further modification of carbohydrate residues to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006642 biolink:NamedThing muscle layer of oviduct tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18420 biolink:NamedThing SETD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004083 biolink:NamedThing Borst-Jadassohn intraepidermal carcinoma A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells. tmpte7i6ely_mondo_relaxed.owl Bowen's disease, clonal|intraepidermal epithelioma of Jadassohn EFO:1001841|ICDO:8096/0|NCIT:C4110|DOID:7039|UMLS:C2937231|UMLS:C0334260|SCTID:403886007 owl:Class HGNC:3959 biolink:NamedThing FRZB tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002609 biolink:NamedThing neuron of cerebral cortex A CNS neuron of the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl cortical neuron BTO:0004102|FMA:84104 tmeehan 2011-03-06T07:37:08Z cell owl:Class CL:0010012 biolink:NamedThing cerebral cortex neuron A neuron that is part_of a cerebral cortex. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010332 biolink:NamedThing X-linked intellectual disability-cubitus valgus-dysmorphism syndrome An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. tmpte7i6ely_mondo_relaxed.owl cubitus valgus with mental retardation and unusual facies|cubitus valgus with intellectual disability and unusual facies UMLS:C1845450|MESH:C564510|Orphanet:85280|OMIM:300471|ICD10:Q87.8 owl:Class CHEBI:23359 biolink:NamedThing colchicine An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum. tmpte7i6ely_mondo_relaxed.owl N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide owl:Class CHEBI:38032 biolink:NamedThing carbotricyclic compound A carbopolyclic compound comprising of three carbocyclic rings. tmpte7i6ely_mondo_relaxed.owl carbotricyclic compounds owl:Class MONDO:0022428 biolink:NamedThing aluminosis Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax. tmpte7i6ely_mondo_relaxed.owl pulmonary aluminosis|aluminosis of lung|aluminium lung UMLS:C0311227|SCTID:90623003|GARD:0008357 https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung owl:Class MONDO:0004774 biolink:NamedThing gonococcal iridocyclitis An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl Neisseria gonorrhoeae caused iridocyclitis (disease)|Neisseria gonorrhoeae iridocyclitis (disease) ICD9:098.41|UMLS:C0153212|DOID:9384|ICD10:A54.32|SCTID:9091006 owl:Class MONDO:0017210 biolink:NamedThing infectious anterior uveitis An infectious disease involving a pathogenic inflammatory response in the anterior uvea. tmpte7i6ely_mondo_relaxed.owl infectious secondary iridocyclitis|secondary infected iridocyclitis|secondary iridocyclitis, infectious ICD10:H20.1|Orphanet:279922|ICD9:364.03|ICD10:H20.03|UMLS:C0154911|SCTID:193487008|ICD10:H20.2|DOID:9389|ICD10:H20.8|ICD10:H20.9|ICD10:H20.0 owl:Class MONDO:0001100 biolink:NamedThing hypertrophy of breast Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain. tmpte7i6ely_mondo_relaxed.owl gigantomastia|breast Hypertrophy|juvenile gigantomastia (subtype)|drug-induced gigantomastia (subtype)|medication-induced gigantomastia (subtype)|idiopathic gigantomastia (subtype)|hypertrophy of the breast|macromastia|breasts enlarged|large breast|pregnancy-induced gigantomastia (subtype)|gestational gigantomastia (subtype)|puberty-induced gigantomastia (subtype) ICD9:611.1|NCIT:C3125|GARD:0009450|SCTID:372281005|ICD10:N62|DOID:10688 owl:Class CHEBI:50406 biolink:NamedThing probe A role played by a molecular entity used to study the microscopic environment. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33232 biolink:NamedThing application Intended use of the molecular entity or part thereof by humans. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009623 biolink:NamedThing spinal nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007669 biolink:NamedThing renal cysts and diabetes syndrome Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. tmpte7i6ely_mondo_relaxed.owl hyperuricemic nephropathy, familial juvenile, atypical|FJHN, atypical|renal dysfunction-early-onset diabetes syndrome|atypical familial juvenile hyperuricemic nephropathy|familial hypoplastic glomerulocystic kidney|maturity-onset diabetes of the Young, type 5|RCAD|hypoplastic type glomerulocystic kidney disease|MODY type 5|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|atypical FJHN|FJHN atypical|CAKUT with diabetes|MODY5|HNF1B-related renal cysts and diabetes syndrome|glomerulocystic kidney, familial hypoplastic|maturity-onset diabetes of the young type 5|renal cysts-maturity-onset diabetes of the young syndrome|maturity onset diabetes of the Young, type 5|HNF1B-MODY|RCAD syndrome|renal cysts and diabetes syndrome|glomerulocystic kidney disease, hypoplastic type|congenital anomalies of the kidney and urinary tract with diabetes Orphanet:93111|UMLS:C0431693|OMIM:137920|GARD:0010221|DOID:0111101|NCIT:C123018|ICD10:E11.2|MESH:C535520|OMIM:616026|UMLS:CN206512|SCTID:446641003 https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 owl:Class MONDO:0018911 biolink:NamedThing maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. tmpte7i6ely_mondo_relaxed.owl MODY|maturity onset diabetes of the young|maturity-onset diabetes of the young (disease)|Mason type diabetes|Mason-type diabetes|maturity-onset diabetes of the young maturity-onset diabetes of the young (disease) OMIM:125850|UMLS:C0342276|OMIM:125851|OMIM:610508|Orphanet:552|OMIM:606394|OMIM:613370|DOID:0050524|ICD10:E11.8|SCTID:609561005|OMIM:616511|MESH:C562772|OMIM:616329|HP:0004904|GARD:0003697|OMIM:609812|ICD10:E11.9|OMIM:613375|OMIM:606391|OMIM:600496|OMIM:606392|OMIM:612225|NCIT:C114769|KEGG:04950 owl:Class MONDO:0019101 biolink:NamedThing retinal capillary malformation Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. tmpte7i6ely_mondo_relaxed.owl Orphanet:71213|ICD10:D18.0 owl:Class MONDO:0022380 biolink:NamedThing acute lymphoblastic leukemia congenital sporadic aniridia A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia. tmpte7i6ely_mondo_relaxed.owl GARD:0000523 https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia owl:Class HGNC:4335 biolink:NamedThing GLUD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020294 biolink:NamedThing atrial defect and interatrial communication tmpte7i6ely_mondo_relaxed.owl rare atrial defect and interatrial communication|atrial defect and interauricular communication Orphanet:98727|ICD10:Q21.1 owl:Class MONDO:0014219 biolink:NamedThing alacrima, achalasia, and intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl alacrima, achalasia, and mental retardation syndrome|AAMR|alacrima, achalasia, and intellectual disability syndrome|GMPPA-CDG OMIM:615510|Orphanet:869|UMLS:C3809738|GARD:0012404 owl:Class MONDO:0020194 biolink:NamedThing congenital alacrima tmpte7i6ely_mondo_relaxed.owl Orphanet:98604 owl:Class CL:1001602 biolink:NamedThing cerebral cortex endothelial cell Endothelial cells forming the walls of the capillaries within the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl endothelial cells of cerebral cortex|cerebral cortex endothelial cells CALOHA:TS-2372 owl:Class MONDO:0100135 biolink:NamedThing Dravet syndrome Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. tmpte7i6ely_mondo_relaxed.owl SME|myoclonic epilepsy, severe, of infancy|Dravet syndrome|DS GARD:0010430|DOID:0080422|UMLS:C0751122|NCIT:C116573|ICD9:345.10|DOID:0060171|SCTID:230437002 This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome owl:Class NCBITaxon:31285 biolink:NamedThing Trypanosoma brucei gambiense tmpte7i6ely_mondo_relaxed.owl Trypanosoma brucei subsp. gambiense|Trypanosoma gambiense|Trypanosoma (Trypanozoon) brucei gambiense GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5691 biolink:NamedThing Trypanosoma brucei tmpte7i6ely_mondo_relaxed.owl Trypanosoma (Trypanozoon) brucei|Trypanosoma brucei subgroup GC_ID:1 ncbi_taxonomy owl:Class GO:0007006 biolink:NamedThing mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. tmpte7i6ely_mondo_relaxed.owl mitochondrial membrane organization and biogenesis|mitochondrial membrane organisation owl:Class GO:0007005 biolink:NamedThing mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. tmpte7i6ely_mondo_relaxed.owl mitochondria organization|mitochondrion organization and biogenesis|mitochondrion organisation owl:Class MONDO:0014677 biolink:NamedThing achromatopsia 7 Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene. tmpte7i6ely_mondo_relaxed.owl achromatopsia type 7|achromatopsia caused by mutation in ATF6|achromatopsia 7|ATF6 achromatopsia|ACHM7 Orphanet:49382|UMLS:C4225297|DOID:0110009|OMIM:616517 owl:Class MONDO:0025488 biolink:NamedThing leukemia, feline A neoplastic disease of cats frequently associated with feline leukemia virus infection. tmpte7i6ely_mondo_relaxed.owl Feline leukemia|Feline leukemias|leukemias, Feline UMLS:C0085164|MESH:D016582 owl:Class MONDO:0002058 biolink:NamedThing breast adenoma A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma. tmpte7i6ely_mondo_relaxed.owl Ademoma - breast|breast adenoma DOID:1625|NCIT:C40382|UMLS:C1328385 owl:Class HP:0011842 biolink:NamedThing Abnormality of skeletal morphology An abnormality of the form, structure, or size of the skeletal system. tmpte7i6ely_mondo_relaxed.owl Abnormally shaped skeletal UMLS:C4023165 peter 2012-05-07T08:08:37Z human_phenotype owl:Class MONDO:0000965 biolink:NamedThing liver lipoma A rare benign adipose tissue neoplasm of the liver. tmpte7i6ely_mondo_relaxed.owl lipoma of liver|hepatic lipoma|lipoma of the liver|liver lipoma NCIT:C5750|UMLS:C1333970|DOID:10190 owl:Class MONDO:0019272 biolink:NamedThing hereditary palmoplantar keratoderma An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary PPK|hereditary keratosis palmoplantaris|hereditary palmoplantar hyperkeratosis|hereditary palmoplantar keratosis ICD9:757.39|ICD10:Q82.8|SCTID:239066003|Orphanet:79357 owl:Class MONDO:0008560 biolink:NamedThing thrombophilia due to activated protein C resistance A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. tmpte7i6ely_mondo_relaxed.owl thrombophilia due to deficiency of Activated Protein C cofactor|Activated Protein C resistance|thrombophilia due to ACTIVATED PROTEIN C resistance|thrombophilia 5|THPH2|thrombophilia due to activated protein C resistance|APC resistance|resistance, APC|Pccf deficiency|thrombophilia due to Factor 5 Leiden|Proc cofactor deficiency MESH:D020016|ICD9:289.81|SCTID:421527008|UMLS:C1861171|OMIM:188055 owl:Class MONDO:0100240 biolink:NamedThing inherited thrombophilia An instance of thrombophilia that is inherited. tmpte7i6ely_mondo_relaxed.owl hereditary hypercoagulable disorder|hereditary thrombophilia|thrombophilia, hereditary OMIM:188050|OMIMPS:188050|OMIM:614486 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:4839 biolink:NamedThing HCFC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011017 biolink:NamedThing Naxos disease Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. tmpte7i6ely_mondo_relaxed.owl NAXOS disease|keratoderma with woolly hair type I|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|NXD|KWWH type I|Mal De Naxos|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities|keratosis palmoplantaris with arrhythmogenic cardiomyopathy|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|woolly hair palmoplantar keratoderma cardiac abnormalities|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities|palmoplantar keratoderma with arrythmogenic cardiomyopathy|Naxos disease|keratosis palmoplantaris with arrythmogenic cardiomyopathy MESH:C538346|UMLS:C1832600|GARD:0009795|OMIM:601214|DOID:0080551|Orphanet:34217|ICD10:Q87.8|SCTID:715535009 https://rarediseases.info.nih.gov/diseases/9795/naxos-disease owl:Class CHEBI:33253 biolink:NamedThing nucleon Heavy nuclear particle: proton or neutron. tmpte7i6ely_mondo_relaxed.owl nucleons|Nukleon|Nukleonen|nucleon owl:Class CHEBI:36339 biolink:NamedThing baryon Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). tmpte7i6ely_mondo_relaxed.owl baryons owl:Class GO:0042493 biolink:NamedThing response to drug Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. tmpte7i6ely_mondo_relaxed.owl drug susceptibility/resistance|drug resistance owl:Class GO:0042221 biolink:NamedThing response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpte7i6ely_mondo_relaxed.owl response to chemical stimulus|response to chemical substance owl:Class MONDO:0020510 biolink:NamedThing idiopathic syringomyelia Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding. tmpte7i6ely_mondo_relaxed.owl SCTID:725001004|Orphanet:99858|UMLS:C4511700|ICD10:G95.0 owl:Class MONDO:0011969 biolink:NamedThing ALG8-CDG A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation, type Ih|congenital disorder of glycosylation type 1h|CDG-Ih|CDG 1H|CDG syndrome type Ih|carbohydrate deficient glycoprotein syndrome type Ih|glucosyltransferase 2 deficiency|CDG Ih|CDG1H|congenital disorder of glycosylation type Ih|ALG8-CDG (CDG-Ih) Orphanet:79325|MESH:C535746|OMIM:608104|SCTID:720977000|ICD10:E77.8|DOID:0080560|UMLS:C2931002|GARD:0009834 owl:Class MONDO:0005402 biolink:NamedThing lymphoid leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. tmpte7i6ely_mondo_relaxed.owl lymphocytic leukemia|leukemia, LYMPHOCYTIC, malignant|lymphoid leukemia (disease)|lymphogenous leukemia|subacute lymphoid leukemia|lymphoid leukemia lymphoid leukemia (disease) UMLS:C0152271|ICD9:204.20|ICD9:204|UMLS:C0023448|ICD9:204.2|ICDO:981-983|NCIT:C7539|DOID:10747|ICDO:9820/3|HP:0005526|MESH:D007945|SCTID:188726003|EFO:0004289 owl:Class MONDO:0021485 biolink:NamedThing benign neoplasm of iris A benign neoplasm that involves the iris. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the iris|benign tumor of iris|iris benign neoplasm|benign tumor of the iris|benign iris neoplasm|benign iris tumor ICD9:224.0|SCTID:189151003|NCIT:C4555|UMLS:C0346374 owl:Class MONDO:0008350 biolink:NamedThing pulmonic stenosis and deafness tmpte7i6ely_mondo_relaxed.owl pulmonic stenosis and deafness UMLS:C1867406|OMIM:178651 owl:Class HGNC:1404 biolink:NamedThing CACNB4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001342 biolink:NamedThing dysgammaglobulinemia An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. tmpte7i6ely_mondo_relaxed.owl dysgammaglobulinemia (disease)|dysgammaglobulinemia (finding)|dysgammaglobulinemia dysgammaglobulinemia (disease) DOID:11702|HP:0002961|MESH:D004406|UMLS:C0013374|SCTID:123782009 owl:Class MONDO:0003739 biolink:NamedThing selective immunoglobulin deficiency disease A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. tmpte7i6ely_mondo_relaxed.owl selective Immunoglobulin isotype deficiency NCIT:C27870|DOID:6025|UMLS:C1335942 owl:Class MONDO:0020061 biolink:NamedThing chromosome Y structural anomaly tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:98158|ICD10:Q98.6 Reason: grouping class. Term to consider: none owl:Class UBERON:0013695 biolink:NamedThing colon endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008080 biolink:NamedThing neurofibromatosis, type III, mixed central and peripheral tmpte7i6ely_mondo_relaxed.owl neurofibromatosis, type III, of Riccardi|neurofibromas, palmar cutaneous|neurofibromatosis, type III, mixed central and peripheral|NF3A|neurofibromatosis, type III, Riccardi type|Nf 3 MESH:C537389|SCTID:254240003|Orphanet:93921|OMIM:162260 owl:Class MONDO:0008075 biolink:NamedThing neurofibromatosis type 3 Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. tmpte7i6ely_mondo_relaxed.owl neurinoma|neurilemmomatosis, congenital cutaneous|schwannomatosis|congenital cutaneous neurilemmomatosis|Schwannomatosis|neurilemmomatosis|NF3|neurilemmomatosis congenital cutaneous|Neurinomatosis OMIM:162260|DOID:3204|OMIM:615670|OMIMPS:162091|NCIT:C6557|ICDO:9560/1|ICD9:237.73|ICD10:Q85.03|GARD:0004768|OMIM:162091|Orphanet:93921|UMLS:C1335929|ICD10:Q85.0 owl:Class MONDO:0005327 biolink:NamedThing hip fracture Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. tmpte7i6ely_mondo_relaxed.owl MESH:D006620|NCIT:C26794|EFO:0003964|SCTID:263225007 owl:Class GO:0015695 biolink:NamedThing organic cation transport The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015646 biolink:NamedThing orgasm-induced seizures Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200056|Orphanet:166421|ICD10:G40.8 owl:Class MONDO:0017768 biolink:NamedThing reflex epilepsy Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). tmpte7i6ely_mondo_relaxed.owl epilepsy, sensory-induced DOID:2548|UMLS:C0270857|MESH:D020195|NCIT:C85041|Orphanet:310|SCTID:79745005|EFO:1001146|ICD10:G40.8|ICD9:345.10 owl:Class CHEBI:52217 biolink:NamedThing pharmaceutical Any substance introduced into a living organism with therapeutic or diagnostic purpose. tmpte7i6ely_mondo_relaxed.owl farmaco|medicament|pharmaceuticals owl:Class ENVO:01001052 biolink:NamedThing aerosol environment An environmental system which has its properties and dynamics determined by an aerosol. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013165 biolink:NamedThing hereditary spastic paraplegia 45 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia type 45|autosomal recessive spastic paraplegia type 65|NT5C2 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 45|spastic paraplegia 45, autosomal recessive|autosomal recessive spastic paraplegia 45|SPG45|SPG65|autosomal recessive complex spastic paraplegia caused by mutation in NT5C2 SCTID:765753004|DOID:0110797|UMLS:CN203996|OMIM:613162|Orphanet:320396|ICD10:G11.4 owl:Class UBERON:0004217 biolink:NamedThing upper arm nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011444 biolink:NamedThing Duane retraction syndrome 2 Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. tmpte7i6ely_mondo_relaxed.owl CHN1 Duane retraction syndrome|Duane syndrome type 2|Duane retraction syndrome caused by mutation in CHN1|Duane retraction syndrome type 2|Duane retraction syndrome 2|DURS2 GARD:0009966|Orphanet:233|OMIM:604356|SCTID:128083007 https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2 owl:Class MONDO:0007473 biolink:NamedThing Duane retraction syndrome Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. tmpte7i6ely_mondo_relaxed.owl DRS|Stilling-Turk-Duane syndrome|retraction syndrome|Duane anomaly|Duane syndrome|Duane's syndrome|Duane retraction syndrome|DURS GARD:0006288|ICD10:H50.81|NCIT:C84678|SCTID:60318001|OMIMPS:126800|OMIM:604356|MESH:D004370|MedDRA:10013799|Orphanet:233|ICD10:H50.8|OMIM:617041|UMLS:C0013261|DOID:12557|ICD9:378.71|OMIM:616219|OMIM:126800 https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome owl:Class MONDO:0014163 biolink:NamedThing left ventricular noncompaction 10 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene. tmpte7i6ely_mondo_relaxed.owl left ventricular noncompaction caused by mutation in MYBPC3|left ventricular noncompaction type 10|MYBPC3 left ventricular noncompaction|cardiomyopathy, dilated, 1Mm|LVNC10|left ventricular noncompaction 10 Orphanet:154|Orphanet:54260|OMIM:615396|UMLS:C3715165 owl:Class MONDO:0006404 biolink:NamedThing salivary gland large cell carcinoma A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass. tmpte7i6ely_mondo_relaxed.owl large cell salivary gland carcinoma|salivary gland large cell carcinoma|large cell undifferentiated salivary gland carcinoma|saliva-secreting gland large cell carcinoma NCIT:C35735|UMLS:C2111671|EFO:1000517 owl:Class MONDO:0000521 biolink:NamedThing salivary gland carcinoma A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. tmpte7i6ely_mondo_relaxed.owl salivary carcinoma|saliva-secreting gland carcinoma|carcinoma of the salivary gland|salivary gland cancer|carcinoma of salivary gland|salivary gland carcinoma|carcinoma of saliva-secreting gland UMLS:C0948750|DOID:0050904|ONCOTREE:SACA|NCIT:C9272 owl:Class MONDO:0020852 biolink:NamedThing spermatogenic failure 31 tmpte7i6ely_mondo_relaxed.owl SPGF31|spermatogenic failure 31 OMIM:618112 owl:Class MONDO:0003443 biolink:NamedThing papillary urothelial neoplasm A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 tmpte7i6ely_mondo_relaxed.owl papillary urothelial neoplasm|urinary tract papillary transitional cell neoplasm|inverted papilloma of urinary tract|urothelium papillary epithelial neoplasm|urinary tract papillary transitional cell benign neoplasm|papillary transitional cell neoplasm of the urinary tract UMLS:C1334282|UMLS:C1335329|NCIT:C27883|DOID:5433|NCIT:C6192 owl:Class MONDO:0100286 biolink:NamedThing respiratory syncytial virus bronchiolitis Bronciolitis caused by infection with respiratory syncytial virus. tmpte7i6ely_mondo_relaxed.owl RSV bronchiolitis http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002465 biolink:NamedThing bronchiolitis Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. tmpte7i6ely_mondo_relaxed.owl wheezy bronchitis|bronchiolitis|viral bronchiolitis|RSV bronchiolitis|bronchiolitis (disease) bronchiolitis (disease) HP:0011950|DOID:2942|SCTID:4120002|NCIT:C39658|UMLS:C0006271|ICD9:466.19|MESH:D001988 owl:Class CL:0000622 biolink:NamedThing acinar cell A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). tmpte7i6ely_mondo_relaxed.owl acinous cell|acinic cell FMA:83625 cell owl:Class UBERON:0011864 biolink:NamedThing tendon collagen fibril tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011860 biolink:NamedThing collection of collagen fibrils tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004410 biolink:NamedThing distal epiphysis of fibula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004388 biolink:NamedThing epiphysis of fibula tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8856 biolink:NamedThing PEX14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007352 biolink:NamedThing renal coloboma syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. tmpte7i6ely_mondo_relaxed.owl coloboma of optic nerve with renal disease|optic nerve coloboma with renal disease|papillo-renal syndrome, optic nerve coloboma with renal disease|PAPILLORENAL syndrome|CAKUT with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|Papillo-renal syndrome|papillorenal syndrome|PAPRS|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|renal-coloboma syndrome|renal-coloboma syndrome with macular abnormalities|optic coloboma, vesicoureteral reflux and renal anomalies MESH:C537168|SCTID:446449009|ICD9:759.89|OMIM:120330|UMLS:C1852759|GARD:0004106|Orphanet:1475|ICD10:Q60.4|DOID:0090006|NCIT:C123230 https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome owl:Class MONDO:0012798 biolink:NamedThing deafness, unilateral, with delayed endolymphatic hydrops tmpte7i6ely_mondo_relaxed.owl deafness, unilateral, with delayed endolymphatic hydrops UMLS:C2677512|OMIM:612097|MESH:C567420 owl:Class UBERON:0003235 biolink:NamedThing epithelium of upper jaw tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035037 biolink:NamedThing jaw epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0037089 biolink:NamedThing wall of orbit tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11510 biolink:NamedThing SYT2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010455 biolink:NamedThing positive regulation of cell fate commitment Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010453 biolink:NamedThing regulation of cell fate commitment Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002688 biolink:NamedThing duodenal obstruction Blockage of the normal flow of stomach contents through the duodenum. tmpte7i6ely_mondo_relaxed.owl UMLS:C0013292|EFO:1000908|ICD10:K31.5|MESH:D004380|DOID:3558|SCTID:95532008|NCIT:C79548 owl:Class MONDO:0004565 biolink:NamedThing intestinal obstruction Blockage of the normal flow of the intestinal contents within the bowel. tmpte7i6ely_mondo_relaxed.owl bowel obstruction ICD9:560.89|DOID:8437|UMLS:C0021843|MESH:D007415|SCTID:81060008|ICD10:K56.60|ICD9:560.9|NCIT:C9175|ICD10:K56.69 owl:Class MONDO:0008362 biolink:NamedThing ragweed sensitivity tmpte7i6ely_mondo_relaxed.owl ragweed sensitivity MESH:C566725|OMIM:179450 owl:Class MONDO:0007539 biolink:NamedThing encephalopathy, recurrent, of childhood tmpte7i6ely_mondo_relaxed.owl encephalopathy, recurrent, of childhood|encephalopathy recurrent of childhood|Neuhauser Eichner Opitz syndrome Orphanet:2672|OMIM:130950|GARD:0002117|MESH:C536407 https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood owl:Class MONDO:0016033 biolink:NamedThing Cornelia de Lange syndrome A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. tmpte7i6ely_mondo_relaxed.owl Brachmann de Lange syndrome|CDLS|Brachmann-de Lange syndrome|Cornelia de Lange syndrome|De Lange syndrome OMIM:300882|UMLS:CN239271|Orphanet:199|UMLS:C0270972|SCTID:40354009|ICD10:Q87.1|NCIT:C75016|OMIM:300590|OMIM:122470|OMIM:610759|MedDRA:10056354|DOID:11725|GARD:0010109|OMIM:614701|OMIMPS:122470 owl:Class UBERON:0001576 biolink:NamedThing intrinsic muscle of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018929 biolink:NamedThing medial condensing osteitis of the clavicle tmpte7i6ely_mondo_relaxed.owl condensing osteitis of the clavicle|condensing osteitis of the medial clavicle|osteitis condensans of the clavicle UMLS:CN230280|GARD:0010910|Orphanet:57196|ICD10:M85.3 owl:Class UBERON:0000084 biolink:NamedThing ureteric bud tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:32925 biolink:NamedThing ATXN8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0029148 biolink:NamedThing spermatogenic failure 34 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 34|SPGF34 OMIM:618153 owl:Class HGNC:10606 biolink:NamedThing SCP2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019219 biolink:NamedThing regulation of nucleobase-containing compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpte7i6ely_mondo_relaxed.owl regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class MONDO:0000784 biolink:NamedThing melon allergy A fruit allergy triggered by Cucumis melo plant fruit food product. tmpte7i6ely_mondo_relaxed.owl Cucumis melo fruit allergy DOID:0060509 owl:Class MONDO:0000778 biolink:NamedThing fruit allergy A food allergy triggered by a plant fruit product. tmpte7i6ely_mondo_relaxed.owl DOID:0060503 owl:Class MONDO:0013583 biolink:NamedThing occipital pachygyria and polymicrogyria tmpte7i6ely_mondo_relaxed.owl OCCM|cortical malformations, occipital|occipital malformations of cortical development|occipital MCD OMIM:614115|Orphanet:280640|UMLS:C3279875|ICD10:Q04.3 owl:Class MONDO:0016054 biolink:NamedThing cerebral malformation tmpte7i6ely_mondo_relaxed.owl brain malformation Orphanet:199633 owl:Class HGNC:9051 biolink:NamedThing PLAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006709 biolink:NamedThing common bile duct neoplasm Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi. tmpte7i6ely_mondo_relaxed.owl common bile duct neoplasm (disease)|neoplasm of common bile duct|common bile duct tumor|tumor of common bile duct DOID:4608|UMLS:C0009442|MESH:D003138|SCTID:126857009|EFO:1000876 owl:Class MONDO:0002886 biolink:NamedThing common bile duct disorder A disease involving the common bile duct. tmpte7i6ely_mondo_relaxed.owl common bile duct disease or disorder|common bile duct disease|disease of common bile duct|disorder of common bile duct|disease or disorder of common bile duct DOID:4137|UMLS:C0009440|MESH:D003137 owl:Class MONDO:0008882 biolink:NamedThing congenital bowing of long bones Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. tmpte7i6ely_mondo_relaxed.owl bowing of long bones, asymmetric and symmetric|bowing of long bones congenital OMIM:264050|GARD:0000953|ICD10:Q68.3|OMIM:211355|MedDRA:10054064|ICD10:Q68.8|Orphanet:2292|ICD10:Q68.5|SCTID:716098006|ICD10:Q68.4 https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital owl:Class MONDO:0019698 biolink:NamedThing bent bone dysplasia tmpte7i6ely_mondo_relaxed.owl campomelic dysplasia and related disorders SCTID:254095002|Orphanet:93439|UMLS:C0432238|ICD9:756.59 owl:Class MONDO:0011841 biolink:NamedThing biotin-responsive basal ganglia disease tmpte7i6ely_mondo_relaxed.owl encephalopathy, thiamine-responsive|thiamine-responsive encephalopathy|basal ganglia disease, biotin-responsive|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)|THMD2|BBGD|BTBGD|biotin-thiamine-responsive basal ganglia disease ICD10:G25.8|DOID:0050659|Orphanet:199348|ICD9:333.99|GARD:0010237|UMLS:C1843807|OMIM:607483|SCTID:723557004|SCTID:703522009|MESH:C537658|Orphanet:65284 owl:Class HGNC:3363 biolink:NamedThing ENTPD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001743 biolink:NamedThing paranasal sinus lymphoma A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. tmpte7i6ely_mondo_relaxed.owl accessory sinus lymphoma|lymphoma of the accessory sinus|lymphoma of accessory sinus|primary paranasal sinus lymphoma|paranasal sinus lymphoma|lymphoma of the paranasal sinus|lymphoma of paranasal sinus UMLS:C1335339|DOID:1355|NCIT:C6068 owl:Class MONDO:0002806 biolink:NamedThing bronchogenic carcinoma A lung carcinoma arising from the bronchial epithelium. tmpte7i6ely_mondo_relaxed.owl bronchogenic lung cancer|carcinoma of bronchus|bronchus carcinoma|bronchogenic carcinoma|bronchogenic lung carcinoma|bronchial carcinoma|BC - bronchogenic carcinoma|bronchiogenic carcinoma|carcinoma, bronchial, malignant NCIT:C35875|SCTID:254622008|EFO:1001942|MESH:D002283|ICD9:162.9|UMLS:C0007121|DOID:3904|SCTID:363493006|CSP:2017-6052 owl:Class MONDO:0001672 biolink:NamedThing bronchus cancer A malignant neoplasm involving the bronchus tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of bronchus and lung, unspecified|malignant neoplasm of bronchus or lung|bronchus cancer|malignant neoplasm of bronchus and lung|malignant bronchus neoplasm|malignant neoplasm of bronchus|cancer of bronchus ICD10:C34|SCTID:363493006|ICD10:C34.9|DOID:1325|ICD9:162.9|ICD9:162.8 owl:Class MONDO:0003274 biolink:NamedThing thoracic cancer A primary or metastatic malignant neoplasm affecting the tissues of the thorax. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of thorax|malignant thoracic neoplasm|tumor of thorax|thorax neoplasm|thorax cancer|malignant neoplasm of thoracic segment of trunk|thoracic tumor|thoracic segment of trunk cancer|malignant neoplasm of the thorax|cancer of thoracic segment of trunk|malignant tumor of thorax|malignant thoracic segment of trunk neoplasm|malignant tumor of the thorax|malignant thoracic tumor NCIT:C3576|DOID:5093|ICD10:C76.1|UMLS:C0039981|SCTID:255058005|NCIT:C3406|UMLS:C0153661|SCTID:188361007|ICD9:195.1 owl:Class CHEBI:78113 biolink:NamedThing fatty acid anion 3:0 Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl fatty acid 3:0 owl:Class CHEBI:58951 biolink:NamedThing short-chain fatty acid anion Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6). tmpte7i6ely_mondo_relaxed.owl short-chain fatty acid anions|a short-chain fatty acid owl:Class MONDO:0005446 biolink:NamedThing cutaneous leishmaniasis Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. tmpte7i6ely_mondo_relaxed.owl Asian desert cutaneous leishmaniasis|zone of skin leishmaniasis|leproid leishmaniasis ICD10:B55.1|UMLS:C0023283|DOID:9111|ICD9:085.2|NCIT:C34770|EFO:0005046|MESH:D016773|SCTID:186807008 owl:Class MONDO:0011989 biolink:NamedThing leishmaniasis Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). tmpte7i6ely_mondo_relaxed.owl post-kala-azar dermal leishmaniasis|post kala-Azar dermal leishmaniasis|cutaneous leishmaniasis (subtype)|post-kala-azar dermal infectious disease by leishmaniasis|visceral leishmaniasis (subtype) ICD10:B55.9|ICD10:B55.2|SCTID:80612004|EFO:0005044|MESH:D007896|Orphanet:507|MedDRA:10024198|ICD10:B55|UMLS:C0023281|ICD9:085.9|OMIM:608207|NCIT:C34767|ICD10:B55.0|ICD10:B55.1|GARD:0006881|ICD9:085|DOID:9065 owl:Class GO:0030291 biolink:NamedThing protein serine/threonine kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003674 biolink:NamedThing molecular_function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. tmpte7i6ely_mondo_relaxed.owl molecular function molecular process owl:Class GO:0008610 biolink:NamedThing lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpte7i6ely_mondo_relaxed.owl lipid anabolism|lipid biosynthesis|lipogenesis|lipid synthesis|lipid formation owl:Class GO:0030858 biolink:NamedThing positive regulation of epithelial cell differentiation Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of epithelial cell differentiation|activation of epithelial cell differentiation|up regulation of epithelial cell differentiation|upregulation of epithelial cell differentiation|up-regulation of epithelial cell differentiation owl:Class MONDO:0013302 biolink:NamedThing nephronophthisis 11 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. tmpte7i6ely_mondo_relaxed.owl NPHP11|nephronophthisis 11|nephronophthisis type 11 DOID:0111118|Orphanet:84081|OMIM:613550|UMLS:C3150796 owl:Class MONDO:0019394 biolink:NamedThing Senior-Boichis syndrome Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. tmpte7i6ely_mondo_relaxed.owl nephronophthisis-hepatic fibrosis syndrome|Boichis disease Orphanet:84081|UMLS:CN206093|OMIM:613550|OMIM:616217|SCTID:717187000 owl:Class MONDO:0005141 biolink:NamedThing Pseudomonas infection Infections with bacteria of the genus pseudomonas. tmpte7i6ely_mondo_relaxed.owl Pseudomonas caused disease or disorder|Pseudomonas disease or disorder|Pseudomonas infectious disease EFO:0001076|MESH:D011552|ICD9:041.7|SCTID:63398001 owl:Class MONDO:0010266 biolink:NamedThing intellectual disability, X-linked 58 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene. tmpte7i6ely_mondo_relaxed.owl TSPAN7 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in TSPAN7|MRX58|intellectual disability, X-linked 58|intellectual disability, X-linked type 58|mental retardation, X-linked 58|mental retardation, X-linked type 58 OMIM:300210|UMLS:C1846174|MESH:C564566 owl:Class UBERON:0002956 biolink:NamedThing granular layer of cerebellar cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004130 biolink:NamedThing cerebellar layer tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33408 biolink:NamedThing pnictogen oxoacid tmpte7i6ely_mondo_relaxed.owl pnictogen oxoacids owl:Class CHEBI:33302 biolink:NamedThing pnictogen molecular entity A p-block molecular entity containing any pnictogen. tmpte7i6ely_mondo_relaxed.owl pnictogen molecular entities|pnictogen molecular entity owl:Class MONDO:0010064 biolink:NamedThing spastic ataxia-corneal dystrophy syndrome Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. tmpte7i6ely_mondo_relaxed.owl spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|spastic ataxia-ocular anomalies syndrome|Bedouin spastic ataxia syndrome|Mousa-Al Din-Al Nassar syndrome|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|Mousa Al din Al Nassar syndrome GARD:0003795|UMLS:C1849085|OMIM:271320|SCTID:715465001|Orphanet:2572|MESH:C536989|ICD10:G11.8 owl:Class MONDO:0017847 biolink:NamedThing autosomal recessive spastic ataxia Autosomal recessive form of spastic ataxia. tmpte7i6ely_mondo_relaxed.owl AR-SPAX|spastic ataxia, autosomal recessive ICD10:G11.8|UMLS:CN229112|Orphanet:316240 owl:Class MONDO:0006225 biolink:NamedThing gastric mantle cell lymphoma A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl stomach mantle cell lymphoma|mantle cell lymphoma of the stomach|gastric mantle cell lymphoma|mantle cell lymphoma of stomach EFO:1000272|NCIT:C27440|UMLS:C1333780 owl:Class MONDO:0018876 biolink:NamedThing mantle cell lymphoma Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. tmpte7i6ely_mondo_relaxed.owl LCM|classical mantle cell lymphoma|lymphoma, mantle cell|mantle cell lymphoma|MCL|mantle zone lymphoma MedDRA:10061275|NCIT:C4337|ICD10:C83.1|GARD:0006969|MESH:D020522|ICD9:200.40|Orphanet:52416|DOID:0050746|SCTID:443487006|ONCOTREE:MCL|ICDO:9673/3|EFO:1001469 owl:Class MONDO:0015999 biolink:NamedThing primary pigmented nodular adrenocortical disease A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). tmpte7i6ely_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary|PPNAD|pigmented nodular adrenocortical disease|primary pigmented nodular adrenal dysplasia DOID:0060280|OMIM:615830|OMIM:610489|ICD10:E24.8|UMLS:CN200645|MESH:C566469|NCIT:C131196|GARD:0010906|OMIM:610475|OMIMPS:610489|MESH:C566472|OMIM:614190|SCTID:719274008|Orphanet:189439|UMLS:C4304832|UMLS:C1864851 https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease owl:Class MONDO:0040700 biolink:NamedThing orbital dermoid cyst A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative. tmpte7i6ely_mondo_relaxed.owl dermoid cyst of orbit|epidermal dermoid cyst|orbit dermoid cyst|dermoid cyst of the orbit UMLS:C0346356|NCIT:C4548|SCTID:255002002 owl:Class MONDO:0002378 biolink:NamedThing dermoid cyst A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. tmpte7i6ely_mondo_relaxed.owl dermoid cyst, benign|mature cystic teratoma|dermoid tumor|teratoma, benign|benign cystic teratoma|teratoma, benign (morphologic abnormality)|subcutaneous cystic teratoma|dermoid|cystic dermoid choristoma|dermoid tumour|dermoid choristoma|dermoid cyst SCTID:441459009|ICD10:K09.8|DOID:2658|NCIT:C9011|EFO:1000894|UMLS:C0011649|ICDO:9084/0|UMLS:C2700593|UMLS:C2355625|MESH:D003884 owl:Class NBO:0000550 biolink:NamedThing recognition memory "Ability to correctly remember something that has been encountered before." [wikipedia:Recognition_memory] tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000185 biolink:NamedThing declarative memory "Ability to become conscious of, or declare, facts and experiences." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl explicit memory owl:Class MONDO:0007608 biolink:NamedThing desmoid tumor A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. tmpte7i6ely_mondo_relaxed.owl desmoid tumor caused by somatic mutation|aggressive fibromatosis|deep fibromatosis/desmoid tumor|fibromatosis, familial infiltrative|familial infiltrative fibromatosis|desmoid tumor|desmoid-type fibromatosis|desmoid fibromatosis|deep fibromatosis|desmoid disease, hereditary|desmoid/aggressive fibromatosis|desmoid disorder, hereditary|desmoid type fibromatosis|FIF ICDO:8821/1|UMLS:C1851124|DOID:0080366|ICD10:D48.1|OMIM:135290|ONCOTREE:DES|NCIT:C9182|Orphanet:873|UMLS:C0079218|UMLS:CN072436|GARD:0001820 Editor note: consider separate class for inherited disease owl:Class GO:0003995 biolink:NamedThing acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. tmpte7i6ely_mondo_relaxed.owl long-chain acyl coenzyme A dehydrogenase activity|acyl-CoA:(acceptor) 2,3-oxidoreductase activity|medium-chain acyl-CoA dehydrogenase activity|fatty-acyl-CoA dehydrogenase activity|acyl CoA dehydrogenase activity|long-chain acyl-CoA dehydrogenase activity|general acyl CoA dehydrogenase activity|acyl-CoA reductase activity|fatty acyl coenzyme A dehydrogenase activity|medium-chain acyl-coenzyme A dehydrogenase activity|acyl dehydrogenase activity|acyl coenzyme A dehydrogenase activity|acyl-CoA:acceptor 2,3-oxidoreductase activity owl:Class GO:0016627 biolink:NamedThing oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on the CH-CH group of donors, other acceptors owl:Class MONDO:0000563 biolink:NamedThing GRID2-related autosomal dominant spinocerebellar ataxia tmpte7i6ely_mondo_relaxed.owl GRID2-related spinocerebellar ataxia DOID:0050988 the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging. owl:Class MONDO:0020380 biolink:NamedThing autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia|cerebellar ataxia, autosomal dominant|autosomal dominant spinocerebellar ataxia|ADCA|SCA|Pierre Marie cerebellar ataxia (formerly) ICD9:334.3|SCTID:129609000|ICD10:G11.8|UMLS:CN227858|OMIMPS:164400|DOID:1441|GARD:0004346|Orphanet:99 owl:Class MONDO:0043885 biolink:NamedThing eye infectious disorder An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. tmpte7i6ely_mondo_relaxed.owl infection, eye|infection, ocular|ocular infection|infections, ocular|eye infection|infections, eye|ocular infections SCTID:128351009|UMLS:C0015403|MESH:D015817|NCIT:C45372 owl:Class MONDO:0016438 biolink:NamedThing linear focal dermal elastosis Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis. tmpte7i6ely_mondo_relaxed.owl Elastotic striae|linear focal elastosis Orphanet:228236 owl:Class HGNC:28337 biolink:NamedThing C9orf72 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005608 biolink:NamedThing varicella zoster infection A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. tmpte7i6ely_mondo_relaxed.owl Varicella-zoster Virus infection|varicella zoster infection NCIT:C96407|ICD9:052.7|UMLS:C0586989|SCTID:309465005|EFO:0006509 owl:Class MONDO:0013034 biolink:NamedThing keratosis palmoplantaris striata 2 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene. tmpte7i6ely_mondo_relaxed.owl keratoderma, palmoplantar, striate form 2|DSP striate palmoplantar keratoderma|striate palmoplantar keratoderma 2|striate palmoplantar keratoderma caused by mutation in DSP|keratosis palmoplantaris striata type 2|keratosis palmoplantaris striata II|PPKS2 MESH:C565102|Orphanet:50942|OMIM:612908|UMLS:C1852127 owl:Class MONDO:0018865 biolink:NamedThing striate palmoplantar keratoderma Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. tmpte7i6ely_mondo_relaxed.owl keratosis palmoplantaris striata|keratosis palmoplantaris varians of Wachters|keratosis palmoplantaris striata et areata OMIM:607654|OMIM:148700|ICD10:Q82.8|UMLS:CN205191|Orphanet:50942|SCTID:764958008|OMIM:612908 owl:Class NCBITaxon:474019 biolink:NamedThing Sarcoptinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:52281 biolink:NamedThing Sarcoptidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011082 biolink:NamedThing oculoauriculofrontonasal syndrome tmpte7i6ely_mondo_relaxed.owl oculoauriculofrontonasal dysplasia|OAFNS|oculoauriculofrontonasal syndrome|OCULOAURICULOFRONTONASAL syndrome OMIM:601452|UMLS:C1832352|ICD10:Q87.0|Orphanet:398156|MESH:C537865|GARD:0004031 https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome owl:Class MONDO:0016643 biolink:NamedThing frontonasal dysplasia A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. tmpte7i6ely_mondo_relaxed.owl frontonasal dysplasia 1|median cleft syndrome|FND1|median cleft face syndrome MESH:C538065|ICD10:Q75.8|OMIMPS:136760|GARD:0002392|UMLS:C1876203|NCIT:C129028|SCTID:86610004|Orphanet:250 owl:Class UBERON:0000428 biolink:NamedThing prostate epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017218 biolink:NamedThing septopreoptic holoprosencephaly Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. tmpte7i6ely_mondo_relaxed.owl Septopreoptic HPE Orphanet:280195|ICD10:Q04.2|OMIM:609637|OMIM:610829|UMLS:CN202699|OMIM:157170 owl:Class MONDO:0000989 biolink:NamedThing mumps infectious disease A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. tmpte7i6ely_mondo_relaxed.owl mumps virus infectious disease|Mumps virus caused disease or disorder|Mumps virus infectious disease|mumps|Mumps virus disease or disorder|epidemic parotitis MESH:D009107|SCTID:36989005|ICD10:B26.9|UMLS:C0026780|GARD:0007116|ICD9:072|NCIT:C29888|EFO:0007383|DOID:10264|ICD10:B26|MESH:D019351 MONDO:0005863 https://rarediseases.info.nih.gov/diseases/7116/mumps owl:Class GO:0031944 biolink:NamedThing negative regulation of glucocorticoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpte7i6ely_mondo_relaxed.owl inhibition of glucocorticoid metabolic process|down-regulation of glucocorticoid metabolic process|downregulation of glucocorticoid metabolic process|negative regulation of glucocorticoid metabolism|down regulation of glucocorticoid metabolic process owl:Class MONDO:0008730 biolink:NamedThing congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. tmpte7i6ely_mondo_relaxed.owl combined 17-hydroxylase/17,20-lyase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|congenital adrenal hyperplasia type 5|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|CAH due to 17-alpha-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency|17,20-lyase deficiency, isolated|adrenal hyperplasia 5|17-Alpha-Hydroxylase deficiency ICD10:E25.0|Orphanet:90793|Orphanet:418|ICD9:277.6|SCTID:124220008|OMIM:202110|GARD:0001469 https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency owl:Class MONDO:0011895 biolink:NamedThing idiopathic hypereosinophilic syndrome tmpte7i6ely_mondo_relaxed.owl hypereosinophilic syndrome, idiopathic|HES UMLS:C0206141|ICD10:D47.5|OMIM:607685|Orphanet:3260|SCTID:423294001 owl:Class MONDO:0015691 biolink:NamedThing hypereosinophilic syndrome Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. tmpte7i6ely_mondo_relaxed.owl hypereosinophilic disorder|hypereosinophilic syndrome|eosinophilia|HES|eosinophilic leukocytosis|hypereosinophilic disease ICD10:D47.5|ICD10:D72.1|MESH:D017681|ICD9:288.3|DOID:999|MedDRA:10048643|UMLS:C1540912|NCIT:C27038|GARD:0002804|Orphanet:168956|ICDO:9964/3|EFO:1001467|SCTID:419455006 owl:Class MONDO:0017170 biolink:NamedThing idiopathic recurrent stupor Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. tmpte7i6ely_mondo_relaxed.owl UMLS:CN202595|Orphanet:276174|SCTID:763739002 owl:Class UBERON:0003937 biolink:NamedThing reproductive gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004991 biolink:NamedThing mucosa of transverse colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000083 biolink:NamedThing mesonephric tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005103 biolink:NamedThing mesonephric epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012188 biolink:NamedThing neuronal ceroid lipofuscinosis 9 Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpte7i6ely_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, 9|CLN 9|neuronal ceroid lipofuscinosis type 9|CLN9 disease|CLN9 ICD10:E75.4|Orphanet:228357|DOID:0110733|Orphanet:79264|MESH:C537953|OMIM:609055|GARD:0006618 https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 owl:Class UBERON:0010849 biolink:NamedThing tibia cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005172 biolink:NamedThing abdomen element tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0008000 biolink:NamedThing non-striated muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5833 biolink:NamedThing Plasmodium falciparum tmpte7i6ely_mondo_relaxed.owl Plasmodium (Laverania) falciparum|malaria parasite P. falciparum GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:418107 biolink:NamedThing Plasmodium (Laverania) tmpte7i6ely_mondo_relaxed.owl Laverania GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000343 biolink:NamedThing Barmah forest virus disease A disease caused by infection with Barmah Forest virus. tmpte7i6ely_mondo_relaxed.owl Barmah Forest virus disease or disorder|Barmah Forest virus infectious disease|Barmah Forest virus caused disease or disorder DOID:0050517 owl:Class MONDO:0005643 biolink:NamedThing Alphavirus infectious disease Virus diseases caused by members of the alphavirus genus of the family togaviridae. tmpte7i6ely_mondo_relaxed.owl Alphavirus caused disease or disorder|Alphavirus disease or disorder EFO:0007142|MESH:D018354|UMLS:C0206752 owl:Class UBERON:0003398 biolink:NamedThing mesentery of jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001170 biolink:NamedThing mesentery of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030703 biolink:NamedThing autoimmune vasculitis An autoimmune form of vasculitis. tmpte7i6ely_mondo_relaxed.owl UMLS:C1328843|DOID:0040097|SCTID:427213005 owl:Class MONDO:0005039 biolink:NamedThing reproductive system disorder A disease involving the reproductive system. tmpte7i6ely_mondo_relaxed.owl reproductive system disorder|reproductive system disease|genital disorders|disease or disorder of reproductive system|genital system disease|disease of reproductive system|reproductive disease|disorder of reproductive system|reproductive system disease or disorder DOID:15|UMLS:C0178829|NCIT:C4875|EFO:0000512|SCTID:362968007|Wikipedia:Reproductive_system_disease owl:Class GO:0060429 biolink:NamedThing epithelium development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009888 biolink:NamedThing tissue development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl histogenesis|histogenesis and organogenesis owl:Class MONDO:0012019 biolink:NamedThing spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. tmpte7i6ely_mondo_relaxed.owl SEDK|spondyloepiphyseal dysplasia, Kimberley type|Sedk SCTID:719203001|OMIM:608361|ICD10:Q77.7|MESH:C564252|Orphanet:93283 owl:Class MONDO:0003508 biolink:NamedThing choriocarcinoma of testis A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. tmpte7i6ely_mondo_relaxed.owl testicular choriocarcinoma|testis choriocarcinoma (disease)|choriocarcinoma of testis|choriocarcinoma of the testis|choriocarcinoma UMLS:C0238449|EFO:1000564|ONCOTREE:TCCA|DOID:5551|NCIT:C7733 owl:Class MONDO:0005207 biolink:NamedThing choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. tmpte7i6ely_mondo_relaxed.owl chorionic carcinoma|choriocarcinoma|choriocarcinoma, malignant|choriocarcinoma (disease)|chorioblastoma|chorioepithelioma|chorion carcinoma choriocarcinoma (disease) UMLS:C0008497|ICD10:C58|GARD:0006059|MESH:D002822|HP:0100768|ONCOTREE:BCCA|NCIT:C2948|DOID:3594|ICDO:9100/3|EFO:0002893|SCTID:188188009 Editor note: TODO check classification w.r.t carcinoma owl:Class MONDO:0100307 biolink:NamedThing adult Refsum disease due to PEX7 defect An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene. tmpte7i6ely_mondo_relaxed.owl adult Refsum disease due to PEX7 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100272 biolink:NamedThing peroxisome biogenesis disorder due to PEX7 defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene. tmpte7i6ely_mondo_relaxed.owl adult refsum disease due to PEX7 defect (formerly)|PEX7 related peroxisome biogenesis disorder|rhizomelic chondrodysplasia punctata type 1 (formerly) http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0011473 biolink:NamedThing Leber congenital amaurosis 5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene. tmpte7i6ely_mondo_relaxed.owl amaurosis congenita of Leber, type 5|LCA5|Leber congenital amaurosis type 5|Leber congenital amaurosis 5|Leber congenital amaurosis caused by mutation in LCA5|LCA5 Leber congenital amaurosis DOID:0110215|ICD10:H35.5|MESH:C536602|UMLS:C1858301|GARD:0009983|OMIM:604537 https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5 owl:Class MONDO:0100445 biolink:NamedThing LCA5-related retinopathy A retinopathy caused by biallelic variants in the LCA5 gene. tmpte7i6ely_mondo_relaxed.owl LCA5 Leber congenital amaurosis|LCA5 retinopathy|amaurosis congenita of Leber, type 5|Leber congenital amaurosis type 5|LCA5|Leber congenital amaurosis 5|Leber congenital amaurosis caused by mutation in LCA5 owl:Class MONDO:0001783 biolink:NamedThing endometrial stromal nodule A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia. tmpte7i6ely_mondo_relaxed.owl DOID:1373|UMLS:C0334485|EFO:1000241|ICDO:8930/0|NCIT:C4262|SCTID:721571001 owl:Class MONDO:0021525 biolink:NamedThing benign neoplasm of corpus uteri A benign neoplasm that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the body of uterus|benign tumor of the uterine body|benign neoplasm of the uterine body|benign neoplasm of uterine corpus|benign uterine body tumor|benign neoplasm of the uterine corpus|benign uterine corpus neoplasm|benign tumor of the corpus uteri|benign neoplasm of the corpus uteri|benign neoplasm of body of uterus|benign corpus uteri neoplasm|benign uterine corpus tumor|benign tumor of corpus uteri|benign corpus uteri tumor|benign tumor of uterine corpus|benign tumor of the uterine corpus|benign neoplasm of uterine body|benign uterine body neoplasm|benign tumor of the body of uterus|benign tumor of body of uterus|benign tumor of uterine body|body of uterus benign neoplasm SCTID:92021007|NCIT:C3608|UMLS:C0153998|ICD9:219.1 owl:Class MONDO:0012568 biolink:NamedThing osteoarthritis susceptibility 4 tmpte7i6ely_mondo_relaxed.owl osteoarthritis, generalized, without dysplasia|osteoarthritis susceptibility 4|OS4 OMIM:610839|UMLS:C1835815 owl:Class MONDO:0005701 biolink:NamedThing chlamydia trachomatis infectious disease An infection that is caused by Chlamydia trachomatis. tmpte7i6ely_mondo_relaxed.owl Chlamydia trachomatis disease or disorder|Chlamydia trachomatis caused disease or disorder|Chlamydial infection|chlamydia|chlamydial disease|chlamydia trachomatis infectious disease|Chlamydia trachomatis infectious disease SCTID:105629000|DOID:11263|ICD9:079.88|EFO:0007205|NCIT:C34463|ICD9:078.88|ICD9:079.98 owl:Class UBERON:0005475 biolink:NamedThing sigmoid sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0017635 biolink:NamedThing paired venous dural sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001521 biolink:NamedThing intermittent explosive disorder A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use. tmpte7i6ely_mondo_relaxed.owl explosive personality disorder ICD9:301.3|ICD10:F60.3|DOID:12401|ICD9:312.34|ICD10:F63.81|SCTID:231527003|NCIT:C94332 owl:Class MONDO:0021577 biolink:NamedThing malignant mediastinal neural neoplasm tmpte7i6ely_mondo_relaxed.owl malignant neuroma of mediastinum UMLS:C0349665|SCTID:278044006 owl:Class MONDO:0004958 biolink:NamedThing oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of mouth|mouth squamous cell carcinoma|OCSC|oral cavity scc|oral squamous cell carcinoma|oral cavity squamous cell cancer|scc of mouth|squamous cell carcinoma of the mouth|scc of the mouth|oral cavity squamous cell carcinoma|squamous cell carcinoma of oral cavity|squamous cell carcinoma of the oral cavity|mouth scc|scc of oral cavity|scc of the oral cavity EFO:0000199|ONCOTREE:OCSC|SCTID:307502000|DOID:0050866|OMIM:275355|NCIT:C4833|Orphanet:502363|UMLS:C0585362|GARD:0007263 https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma owl:Class MONDO:0044925 biolink:NamedThing oral cavity carcinoma A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl oral cavity carcinoma|carcinoma of mouth|carcinoma of the oral cavity|mouth carcinoma|oral cavity cancer|carcinoma of oral cavity UMLS:C0151546|NCIT:C8990 owl:Class MONDO:0020122 biolink:NamedThing acquired idiopathic inflammatory myopathy An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. tmpte7i6ely_mondo_relaxed.owl idiopathic inflammatory myopathy, familial|IIm|idiopathic inflammatory myositis|IMM|idiopathic inflammatory myopathies ICD9:359.79|UMLS:C0751356|SCTID:702380008|GARD:0009128|NCIT:C116796|Orphanet:98482 owl:Class MONDO:0600023 biolink:NamedThing idiopathic inflammatory myopathy Idiopathic form of inflammatory myopathy. tmpte7i6ely_mondo_relaxed.owl idiopathic myositis UMLS:C0751356|SCTID:702380008|MESH:D009220|OMIM:160750|NCIT:C116796|Orphanet:98482 http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3143 owl:Class HP:0002249 biolink:NamedThing Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. tmpte7i6ely_mondo_relaxed.owl Black feces|Black faeces SNOMEDCT_US:249627005|SNOMEDCT_US:35064005|MSH:D008551|SNOMEDCT_US:267055007|UMLS:C0474585|SNOMEDCT_US:2901004|SNOMEDCT_US:269899009|UMLS:C0025222 human_phenotype owl:Class HP:0025085 biolink:NamedThing Bloody diarrhea Passage of many stools containing blood. tmpte7i6ely_mondo_relaxed.owl Bloody bowel movement|Bloody diarrhea|Bloody stool|Bloody diarrhoea|Blood in stool 2016-10-15 13:58:14+00:00 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. HPO:probinson human_phenotype owl:Class GO:0043555 biolink:NamedThing regulation of translation in response to stress Modulation of the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl translational stress response owl:Class MONDO:0018253 biolink:NamedThing intellectual disability-facial dysmorphism-hand anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:370010|UMLS:CN204829|ICD10:Q87.0 owl:Class MONDO:0009172 biolink:NamedThing enterocolitis An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. tmpte7i6ely_mondo_relaxed.owl enterocolitis (disease)|enterocolitis enterocolitis (disease) SCTID:43752006|MESH:D004760|ICD9:558.9|OMIM:226150|UMLS:C0014356|HP:0004387|NCIT:C79573|EFO:1001481 owl:Class MONDO:0100297 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 tmpte7i6ely_mondo_relaxed.owl SSFSC|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:617877|UMLS:CN807949 owl:Class MONDO:0031439 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies tmpte7i6ely_mondo_relaxed.owl OMIMPS:617877 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024677 biolink:NamedThing pancreatic insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. tmpte7i6ely_mondo_relaxed.owl beta-cell tumor|beta cell tumor|beta-cell adenoma|Insulomas|adenoma, beta cell|insulinoma tumor suppressor GENE locus|insulinoma|islet cell adenoma|insuloma|adenomas, beta-cell|Insulinomas|tumor, beta-cell|beta-cell tumors|adenoma, beta-cell|tumors, beta-cell|beta-cell adenomas|pancreatic insulinoma SCTID:302822000|EFO:0000549|NCIT:C95598|HP:0012197|MedDRA:10022498|ICD10:E16.8|DOID:3892|MESH:D007340|GARD:0003010 Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma owl:Class MONDO:0005048 biolink:NamedThing pancreatic insulin-producing neuroendocrine tumor An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome. tmpte7i6ely_mondo_relaxed.owl pancreatic insulin producing tumor|Beta cell tumor of pancreas|pancreatic insulin producing NET|insulin-producing islet cell tumor|pancreatic insulin-producing tumor|pancreatic Beta cell tumor|pancreatic insulin-producing neuroendocrine tumor|pancreatic insulin producing neoplasm|insulin-producing tumor of islet cells|beta cell tumor of the pancreas|insulin-producing tumor of the islet cells|Beta cell tumor of the pancreas|Beta cell tumor|beta cell neoplasm ICDO:8151/1|Orphanet:97279|NCIT:C3140|ICDO:8151/0 owl:Class MONDO:0013741 biolink:NamedThing familial temporal lobe epilepsy 5 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. tmpte7i6ely_mondo_relaxed.owl epilepsy, familial temporal lobe, type 5|ETL5|epilepsy, familial temporal lobe, 5|familial temporal lobe epilepsy type 5 Orphanet:165805|DOID:0060752|OMIM:614417|Orphanet:163717|UMLS:C3280730 owl:Class MONDO:0013742 biolink:NamedThing familial mesial temporal lobe epilepsy with febrile seizures tmpte7i6ely_mondo_relaxed.owl febrile seizures, familial, type 11|FEB11|febrile seizures, familial, 11 Orphanet:165805|OMIM:614418 owl:Class MONDO:0000733 biolink:NamedThing cornea plana tmpte7i6ely_mondo_relaxed.owl flat cornea Orphanet:53691|HP:0007720|SCTID:204145006|OMIM:217300|OMIMPS:121400|ICD10:Q13.4|OMIM:121400|DOID:0060287 owl:Class GO:0002825 biolink:NamedThing regulation of T-helper 1 type immune response Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28741 biolink:NamedThing ILDR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002295 biolink:NamedThing skin glomus tumor A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. tmpte7i6ely_mondo_relaxed.owl glomus tumor of skin|glomus neoplasm of skin|glomus tumor of the skin|skin glomus neoplasm|glomus skin tumor|glomus skin neoplasm|zone of skin glomus tumor|glomus neoplasm of the skin NCIT:C4491|SCTID:254795008|DOID:2430|UMLS:C0346083 owl:Class MONDO:0018327 biolink:NamedThing glomus tumor A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. tmpte7i6ely_mondo_relaxed.owl glomus neoplasm|glomus tumour|glomus tumor Orphanet:391651|ICD9:239.7|NCIT:C3060|ICD10:D18.0|SCTID:403969002|MESH:D005918|DOID:2431|UMLS:C0017653|ICDO:8711/0 owl:Class MONDO:0015776 biolink:NamedThing rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. tmpte7i6ely_mondo_relaxed.owl rhizomelic chondrodysplasia punctata|rhizomelic dwarfism|chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata syndrome|RCDP MESH:D018902|SCTID:56692003|GARD:0013160|NCIT:C85047|OMIM:222765|OMIM:600121|OMIMPS:215100|ICD10:E71.540|DOID:2580|OMIM:215100|OMIM:616716|ICD10:Q77.3|UMLS:C0282529|Orphanet:177 https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata owl:Class MONDO:0019701 biolink:NamedThing chondrodysplasia punctata A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia calcificans congenita|chondrodysplasia punctata (stippled epiphyses) Group|chondrodysplasia punctata congenita|CDP ICD9:756.59|ICD10:Q77.3|OMIM:215105|NCIT:C84632|MESH:D002806|GARD:0008542|DOID:2581|UMLS:C0008445|SCTID:360507004|Orphanet:93442 owl:Class UBERON:0036656 biolink:NamedThing wall of third ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036661 biolink:NamedThing wall of ventricular system of brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002661 biolink:NamedThing uveal disorder A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. tmpte7i6ely_mondo_relaxed.owl disease or disorder of uvea|uveal disorder|disease of uvea|disorder of uvea|uveal tract disease|uveal disease|uvea disease or disorder|uveal diseases|uvea disease|disorder of uveal tract DOID:3480|SCTID:95678007|GARD:0008192|MESH:D014603|UMLS:C0042161|NCIT:C26908 owl:Class MONDO:0012675 biolink:NamedThing corticosteroid-binding globulin deficiency Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. tmpte7i6ely_mondo_relaxed.owl CBG deficiency|corticosteroid-binding globulin deficiency|Cbg deficiency|Transcortin deficiency|transcortin deficiency|corticosteroid-binding globulin, elevated UMLS:C1852529|ICD10:E27.8|GARD:0013101|OMIM:611489|Orphanet:199247|DOID:0090030 https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency owl:Class MONDO:0005495 biolink:NamedThing adrenal gland disorder A disease involving the adrenal gland. tmpte7i6ely_mondo_relaxed.owl adrenal gland diseases|adrenal gland disorders|disease or disorder of adrenal gland|disorder of adrenal gland|adrenal gland disease or disorder|adrenal gland disorder|disease of adrenal gland|adrenal gland disease ICD9:255.8|ICD10:E27.9|NCIT:C26690|MESH:D000307|ICD9:255|ICD9:255.9|EFO:0005539|DOID:9553|SCTID:30171000 owl:Class GO:1903039 biolink:NamedThing positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. tmpte7i6ely_mondo_relaxed.owl up regulation of leukocyte cell adhesion|up-regulation of leukocyte cell-cell adhesion|activation of leukocyte cell adhesion|activation of leukocyte adhesion|positive regulation of leukocyte adhesion|upregulation of leukocyte cell adhesion|activation of leukocyte cell-cell adhesion|up regulation of leukocyte cell-cell adhesion|up-regulation of leukocyte cell adhesion|positive regulation of leukocyte cell adhesion|upregulation of leukocyte adhesion|upregulation of leukocyte cell-cell adhesion|up-regulation of leukocyte adhesion|up regulation of leukocyte adhesion owl:Class MONDO:0013770 biolink:NamedThing atrial septal defect 9 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene. tmpte7i6ely_mondo_relaxed.owl atrial heart septal defect caused by mutation in GATA6|atrial heart septal defect type 9|GATA6 atrial heart septal defect|atrial septal defect 9|atrial septal defect type 9|ASD9 UMLS:C3280943|DOID:0110114|ICD10:Q21.1|OMIM:614475|Orphanet:1478 owl:Class UBERON:0003471 biolink:NamedThing artery of lower lip tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3219 biolink:NamedThing EFEMP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004060 biolink:NamedThing neural tube ventricular layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021167 biolink:NamedThing myositis An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. tmpte7i6ely_mondo_relaxed.owl inflammation of muscle tissue|inflammatory disorder of muscle|muscle tissue inflammation|inflammatory disorder of muscle (disorder) EFO:0000783|SCTID:128496001|ICD10:G72.49|MESH:D009220|ICD9:728.9|OMIM:160750|UMLS_CUI:C0027121|NCIT:C27578|ICD10:M60|DOID:633|ICD10:M60.9 owl:Class MONDO:0004151 biolink:NamedThing spinal meninges cancer A malignant neoplasm involving the meninx of spinal cord. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of spinal meninges|cancer of meninx of spinal cord|malignant meninx of spinal cord neoplasm|meninx of spinal cord cancer|malignant neoplasm of meninx of spinal cord DOID:7224|SCTID:363476006|ICD9:192.3|UMLS:C0153647|ICD10:C70.1 owl:Class FOODON:03411564 biolink:NamedThing food product organismal source This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019193 biolink:NamedThing acquired generalized lipodystrophy Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). tmpte7i6ely_mondo_relaxed.owl Lawrence syndrome|Lawrence-Seip syndrome|acquired generalized lipodystrophy|acquired lipoatrophic diabetes ICD10:E88.1|SCTID:86907008|GARD:0012603|UMLS:C0271693|Orphanet:79086|NCIT:C131089|DOID:0080300 https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy owl:Class MONDO:0020089 biolink:NamedThing acquired lipodystrophy An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired lipodystrophy (disease) Orphanet:98307|MedDRA:10049287|UMLS:C0877192|ICD10:E88.1 owl:Class MONDO:0015912 biolink:NamedThing macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. tmpte7i6ely_mondo_relaxed.owl Sebastian platelet syndrome|MYH9-RD|MHA|Alport syndrome with macrothrombocytopenia|MYH9-related disorder|MYH9-related syndromic thrombocytopenia|Sebastian syndrome|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|macrothrombocytopenia progressive deafness|MYH9-related disease|SBS|bleeding disorder, Platelet-type, 6|matins|giant platelet syndrome with thrombocytopenia|macrothrombocytopenia, nephritis, and deafness|MYH9-related syndrome|macrothrombocytopenia with leukocyte inclusions|Dohle leukocyte inclusions with giant platelets|Fechtner syndrome|Brodie Chole griffin syndrome|Epstein syndrome|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|FTNS|Alport syndrome with macrothrombocytopenia, formerly|macrothrombocytopenia and progressive sensorineural deafness|MYH9 related disorders|MYH9 related thrombocytopenia|macrothrombocytopenia with dispersed leukocytic inclusions|MYH-9 related disease|May-Hegglin thrombocytopenia|May-Hegglin anomaly UMLS:CN226030|ICD9:582.89|Orphanet:182050|DOID:0060651|Orphanet:1019|ICD9:287.33|NCIT:C131646|OMIM:600208|MESH:C537831|Orphanet:807|SCTID:236422008|OMIM:155100|Orphanet:850|SCTID:234484005|GARD:0000180|ICD10:D69.4|GARD:0000179|Orphanet:1984|SCTID:234485006|OMIM:153640|UMLS:CN226270|UMLS:CN226018|OMIM:605249|ICD9:759.89|UMLS:C1834478|SCTID:712922002|OMIM:153650 https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia owl:Class UBERON:0003124 biolink:NamedThing chorion membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005631 biolink:NamedThing extraembryonic membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045017 biolink:NamedThing cholesterol biosynthetic process disease A disease that has its basis in the disruption of cholesterol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl cholesterol synthesis disease|disorder of cholesterol synthesis|disorder of cholesterol biosynthetic process SCTID:238036004|UMLS:C0342829 owl:Class MONDO:0009265 biolink:NamedThing Gaucher disease type I Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. tmpte7i6ely_mondo_relaxed.owl Gd 1|Gba deficiency|Gaucher's disease type I|non-cerebral juvenile Gaucher disease|acid Beta-glucosidase deficiency|Gaucher disease, noncerebral juvenile|Gaucher disease type 1|Gaucher disease, type 1|Gaucher disease type I|GD I|Gaucher disease, type I GARD:0002441|Orphanet:77259|Orphanet:355|OMIM:230800|ICD10:E75.2|DOID:0110957 owl:Class MONDO:0007346 biolink:NamedThing cochleosaccular degeneration-cataract syndrome Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Cochleosaccular degeneration of the inner ear and progressive cataracts|COCHLEOSACCULAR degeneration with progressive cataracts|Cochleosaccular Degeneration|Cochleosaccular Degeneration of the inner Ear with progressive cataracts GARD:0009418|MESH:C536432|SCTID:715528001|OMIM:120040|UMLS:C1861512|Orphanet:3233 https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts owl:Class MONDO:0009868 biolink:NamedThing glycogen storage disease IXb Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. tmpte7i6ely_mondo_relaxed.owl glycogenosis type IXb|PHKB glycogen storage disease|GSD type 9B|GSD9B|glycogen storage disease caused by mutation in PHKB|glycogenosis type 9B|GSD type IXb|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogen storage disease type IXb|glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|PHKB-related glycogen storage disease type IX|phosphorylase kinase deficiency of liver and muscle, autosomal recessive|glycogen storage disease type 9B|GSD IXb|GSD due to liver and muscle phosphorylase kinase deficiency|glycogenosis of liver and muscle, autosomal recessive|glycogen storage disease IXb ICD10:E74.0|Orphanet:79240|OMIM:261750|MESH:C563008|DOID:0111041|UMLS:C0543514 owl:Class UBERON:0003512 biolink:NamedThing lung blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004883 biolink:NamedThing lung mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:3100033 biolink:NamedThing pressure of water The pressure of some water. tmpte7i6ely_mondo_relaxed.owl water pressure owl:Class MONDO:0100014 biolink:NamedThing autoimmune retinopathy An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. tmpte7i6ely_mondo_relaxed.owl AIR|autoimmune disease of retina|retina autoimmune disease 2018-05-23 00:32:51+00:00 SCTID:724809006|GARD:0012034|UMLS:C3203657 owl:Class MONDO:0002977 biolink:NamedThing autoimmune disorder of the nervous system A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. tmpte7i6ely_mondo_relaxed.owl nervous system autoimmune diseases|neurologic autoimmune diseases|immune disorders, nervous system|autoimmune nervous system disorder|autoimmune disease of nervous system|disease, neurologic autoimmune|autoimmune diseases, nervous system|autoimmune nervous system diseases|autoimmune disorders, nervous system|nervous system immune diseases|autoimmune disease, neurologic|nervous system hypersensitivity reaction type II disease|nervous system autoimmune disease|nervous system immune disorders|autoimmune diseases, neurologic|autoimmune disorders of the nervous system|neurologic autoimmune disease|diseases, neurologic autoimmune|immune diseases, nervous system MESH:D020274|DOID:438|NCIT:C99383|UMLS:C0751871|UMLS:C0751872 owl:Class CHEBI:25701 biolink:NamedThing organic oxide An oxide in which the oxygen atom is bonded to a carbon atom. tmpte7i6ely_mondo_relaxed.owl organic oxides owl:Class CHEBI:25741 biolink:NamedThing oxide An oxide is a chemical compound of oxygen with other chemical elements. tmpte7i6ely_mondo_relaxed.owl oxides|oxide owl:Class MONDO:0009742 biolink:NamedThing neuroectodermal melanolysosomal disease Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. tmpte7i6ely_mondo_relaxed.owl ELEJALDE disease|neuroectodermal melanolysosomal disease|Elejalde disease OMIM:256710|Orphanet:33445|UMLS:C1860157|SCTID:724091002|ICD10:L81.4|MESH:C536203 owl:Class MONDO:0013473 biolink:NamedThing Hirschsprung disease, cardiac defects, and autonomic dysfunction tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, CARDIAC defects, and autonomic dysfunction|Hirschsprung disease, cardiac defects, and autonomic dysfunction|HCAD OMIM:613870|UMLS:C3151237|MESH:C563939 owl:Class MONDO:0004206 biolink:NamedThing pulmonary vein leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl pulmonary vein leiomyosarcoma|leiomyosarcoma of pulmonary vein|leiomyosarcoma of the pulmonary vein DOID:7388|UMLS:C1335575|NCIT:C5374 owl:Class MONDO:0005058 biolink:NamedThing leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma (excluding uterine leiomyosarcoma)|Leiomyosarcomas|leiomyosarcoma|leiomyosarcoma - not uterine|leiomyosarcoma, malignant GARD:0006880|ICD10:C49.9|UMLS:C0023269|MESH:D007890|Orphanet:64720|DOID:1967|ICDO:8890/3|MedDRA:10024189|ONCOTREE:LMS|EFO:0000564|OMIM:613488|NCIT:C3158|ICD9:171.9|SCTID:443719001 https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma owl:Class MONDO:0013458 biolink:NamedThing hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome tmpte7i6ely_mondo_relaxed.owl hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome|Hupra syndrome|HUPRAS|HUPRA syndrome UMLS:C3151209|Orphanet:363694|OMIM:613845|ICD10:N15.8 owl:Class MONDO:0003512 biolink:NamedThing mediastinal mesenchymal tumor A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma. tmpte7i6ely_mondo_relaxed.owl mediastinal soft tissue tumor|soft tissue tumor of the mediastinum|mediastinal soft tissue neoplasm|soft tissue neoplasm of mediastinum|soft tissue tumor of mediastinum|soft tissue neoplasm of the mediastinum DOID:5560|NCIT:C6637|UMLS:C1334669 owl:Class MONDO:0019189 biolink:NamedThing inborn disorder of amino acid and other organic acid metabolism tmpte7i6ely_mondo_relaxed.owl disorder of amino acid and organic acid metabolism|disorder of amino acid and other organic acid metabolism Orphanet:79062|SCTID:237911005|ICD9:270.8|UMLS:C0342666 owl:Class MONDO:0019423 biolink:NamedThing X-linked intellectual disability, Stoll type X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl Orphanet:85326|ICD10:Q87.8|SCTID:718911005|UMLS:CN206179 owl:Class GO:0051588 biolink:NamedThing regulation of neurotransmitter transport Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051049 biolink:NamedThing regulation of transport Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002418 biolink:NamedThing ethmoid sinus adenocarcinoma A carcinoma that arises from glandular epithelial cells of the epithelial cell tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of ethmoid sinus|adenocarcinoma of the ethmoid sinus NCIT:C6237|UMLS:C1333472|DOID:2766 owl:Class MONDO:0043731 biolink:NamedThing lytic metastatic bone lesion Dissolution of bone that particularly involves the removal or loss of calcium. tmpte7i6ely_mondo_relaxed.owl Osteolyses|osteolysis|lytic metastatic bone lesion|osteolytic lesion MESH:D010014|NCIT:C35371|EFO:1001821|SCTID:203522001 Editor note: finding in NCIT owl:Class MONDO:0000837 biolink:NamedThing bone resorption disease A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpte7i6ely_mondo_relaxed.owl DOID:0080011|MESH:D001862 owl:Class UBERON:0001949 biolink:NamedThing gingival epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002424 biolink:NamedThing oral epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11042 biolink:NamedThing SLC6A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002344 biolink:NamedThing CD56-negative, CD161-positive immature natural killer cell, human A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive. tmpte7i6ely_mondo_relaxed.owl p-NK Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). tmeehan 2010-09-20T04:33:11Z cell owl:Class CL:0000823 biolink:NamedThing immature natural killer cell A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR). tmpte7i6ely_mondo_relaxed.owl immature NK cell|p-NK In mouse the NKR are Ly49 molecules and in human these cells express KIR molecules. cell owl:Class MONDO:0015600 biolink:NamedThing X-linked intellectual disability, Cilliers type X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability-microcephaly-testicular failure syndrome UMLS:CN226710|SCTID:719013004|ICD10:Q87.8|Orphanet:163971 owl:Class MONDO:0009924 biolink:NamedThing vitamin D-dependent rickets, type 1 Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. tmpte7i6ely_mondo_relaxed.owl VDDI|hypocalcemic vitamin D-dependent rickets|pseudovitamin D-deficient rickets|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|1-alpha-hydroxylase deficiency|vitamin D-dependency type I|vitamin D dependency, type 1|VDDR-I|PDDRI|vitamin D-dependent rickets type 1|VDDR1|pseudo vitamin-D deficient rickets|1 Alpha-hydroxylase deficiency|vitamin D 1 Alpha-Hydroxylase deficiency|vitamin D dependent rickets type I NCIT:C131073|Orphanet:289157|OMIM:264700|SCTID:67049004|OMIM:600081|ICD10:E55.0|MESH:C562688 owl:Class MONDO:0016794 biolink:NamedThing maternally-inherited mitochondrial myopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:254788|ICD10:G71.3 owl:Class MONDO:0008850 biolink:NamedThing Cooper-Jabs syndrome Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive. tmpte7i6ely_mondo_relaxed.owl aural atresia, multiple congenital anomalies, and intellectual disability|aural atresia, multiple congenital anomalies, and mental retardation|aural atresia-multiple congenital anomalies-intellectual disability syndrome Orphanet:1488|OMIM:209770|ICD10:Q87.8|SCTID:720748007|MESH:C565923 owl:Class MONDO:0019607 biolink:NamedThing unspecified juvenile idiopathic arthritis Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. tmpte7i6ely_mondo_relaxed.owl unspecified JIA ICD10:M08.8|Orphanet:91140 owl:Class MONDO:0011600 biolink:NamedThing congenital myasthenic syndrome 4A A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome type Ia1, formerly|congenital myasthenic syndrome type 4A|CMS Ia1|congenital myasthenic syndrome type Ia1|Cms Ia1, formerly|CMS1A1|myasthenic syndrome, congenital, 4A, slow-channel|Cms Ia1|congenital myasthenic syndrome 4A slow-channel|CMS4A|congenital myasthenic syndrometype Ia1 DOID:0110678|UMLS:C1853949|OMIM:605809|Orphanet:590 owl:Class MONDO:0012117 biolink:NamedThing ALG9-CDG A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). tmpte7i6ely_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type IL|mannosyltransferase 7-9 deficiency|CDG syndrome type IL|CDG-IL|CDG IL|CDG 1L|congenital disorder of glycosylation, type IL|congenital disorder of glycosylation type 1L|congenital disorder of glycosylation type IL|carbohydrate deficient glycoprotein syndrome type 1L|ALG9-CDG (CDG-IL)|CDG1L Orphanet:79328|DOID:0080564|MESH:C535750|OMIM:263210|ICD10:E77.8|SCTID:720978005|GARD:0009839|OMIM:608776|UMLS:C2931006 owl:Class UBERON:0000998 biolink:NamedThing seminal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070626 biolink:NamedThing (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. tmpte7i6ely_mondo_relaxed.owl adenylosuccinase activity|succino AMP-lyase activity|adenylosuccinate lyase activity owl:Class GO:0016842 biolink:NamedThing amidine-lyase activity Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008152 biolink:NamedThing multicentric carpo-tarsal osteolysis with or without nephropathy Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. tmpte7i6ely_mondo_relaxed.owl osteolysis, hereditary, of carpal bones with or without nephropathy|multicentric carpotarsal osteolysis syndrome|multicentric osteolysis, autosomal dominant|multicentric osteolysis nephropathy|MCTO|idiopathic multicentric osteolysis with or without nephropathy|multicentric carpo-tarsal osteolysis with or without nephropathy|Carnevale canun Mendoza syndrome SCTID:766992008|OMIM:166300|MESH:C567171|Orphanet:2774|DOID:0111534|UMLS:C2674705|GARD:0003818|GARD:0013042 https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy owl:Class HGNC:11389 biolink:NamedThing STK11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006601 biolink:NamedThing pityriasis rosea A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. tmpte7i6ely_mondo_relaxed.owl Pityriasis rosea|Pityriasis circinata ICD9:696.3|ICD10:L42|EFO:1000756|MESH:D017515|Wikipedia:Pityriasis_rosea|NCIT:C26855|SCTID:77252004|DOID:8892|UMLS:C0032026 owl:Class MONDO:0006547 biolink:NamedThing exanthem Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. tmpte7i6ely_mondo_relaxed.owl Rash|exanthema|skin Rash|exanthem|exanthem (disease)|cutaneous eruption|skin eruption exanthem (disease) Wikipedia:Exanthem|ICD10:R21|EFO:1000697|NCIT:C111884|SCTID:271807003|NCIT:C39594|MESH:D005076|DOID:0050486|HP:0000988|ICD9:782.1 owl:Class UBERON:0010533 biolink:NamedThing metanephros cortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024884 biolink:NamedThing metastatic carcinoma in the bone A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. tmpte7i6ely_mondo_relaxed.owl metastatic carcinoma to the bone|metastatic carcinoma in the bone UMLS:C0700110|NCIT:C36082 owl:Class MONDO:0017364 biolink:NamedThing POEMS syndrome POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. tmpte7i6ely_mondo_relaxed.owl polyneuropathy organomegaly|Takatsuki syndrome|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|PEP syndrome|POEMS syndrome|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|Crow-Fukase syndrome|osteosclerotic myeloma GARD:0007411|MESH:D016878|NCIT:C80303|EFO:1001115|Orphanet:2905|MedDRA:10053869|DOID:14039|UMLS:C0085404|ICD10:D47.7|SCTID:79268002 POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. owl:Class MONDO:0001549 biolink:NamedThing hemolytic-uremic syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. tmpte7i6ely_mondo_relaxed.owl haemolytic-uraemic syndrome|HUS|hemolytic uremic syndrome|acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells') Orphanet:2134|OMIMPS:235400|GARD:0006588|SCTID:111407006|MESH:D006463|OMIM:612923|ICD9:283.11|OMIM:612924|OMIM:612925|DOID:12554|UMLS:C0019061|Orphanet:544458|OMIM:235400|OMIM:612926|ICD10:D59.3|OMIM:612922|NCIT:C75545 owl:Class MONDO:0019737 biolink:NamedThing thrombotic microangiopathy The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. tmpte7i6ely_mondo_relaxed.owl Orphanet:93573|MedDRA:10043645|ICD9:446.6|MESH:D057049|ICD10:M31.1|GARD:0012465|NCIT:C62605|SCTID:126729006|UMLS:C2717961 owl:Class HGNC:14153 biolink:NamedThing CCDC78 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020130 biolink:NamedThing malformation of the cerebellar vermis tmpte7i6ely_mondo_relaxed.owl Orphanet:98514 owl:Class MONDO:0015915 biolink:NamedThing cerebellar malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:182061 owl:Class MONDO:0018370 biolink:NamedThing KLHL9-related early-onset distal myopathy KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. tmpte7i6ely_mondo_relaxed.owl Orphanet:399081|SCTID:763776004|ICD10:G71.0 owl:Class MONDO:0016108 biolink:NamedThing autosomal dominant distal myopathy Autosomal dominant form of distal myopathy. tmpte7i6ely_mondo_relaxed.owl distal myopathy, autosomal dominant Orphanet:206650|UMLS:CN229018|ICD10:G71.0 owl:Class HP:0000132 biolink:NamedThing Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. tmpte7i6ely_mondo_relaxed.owl Abnormally heavy periods|Abnormally heavy bleeding during menstruation|Hypermenorrhea SNOMEDCT_US:386692008|MSH:D008595|UMLS:C0025323 HP:0100609 human_phenotype owl:Class HP:0000140 biolink:NamedThing Abnormality of the menstrual cycle An abnormality of the ovulation cycle. tmpte7i6ely_mondo_relaxed.owl Menstrual abnormalities|Abnormality of the menstrual cycle UMLS:C3549779|UMLS:C4025888 human_phenotype owl:Class UBERON:0022355 biolink:NamedThing basal layer of endometrium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004811 biolink:NamedThing endometrium epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044696 biolink:NamedThing early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome tmpte7i6ely_mondo_relaxed.owl PEBAS|encephalopathy, progressive, early-onset, with brain atrophy and spasticity UMLS:CN474476|Orphanet:500144|OMIM:617669 owl:Class MONDO:0016642 biolink:NamedThing meningioma A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl meningioma|intracranial meningioma|meningeal neoplasm|primary meningeal tumor|meningothelial cell tumor|meningioma (disease)|supratentorial meningioma meningioma (disease) SCTID:302820008|MedDRA:10027191|ONCOTREE:MNG|SCTID:126965008|NCIT:C3230|UMLS:C0025284|DOID:3565|HP:0002858|MESH:D008579|NCIT:C3229|Orphanet:2495|ICD10:D32.9|UMLS:C0025286|GARD:0007015|ICDO:9530/0|OMIM:606190 owl:Class NCBITaxon:2842321 biolink:NamedThing Kolmioviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2842242 biolink:NamedThing Ribozyviria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016052 biolink:NamedThing atypical autism Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. ' tmpte7i6ely_mondo_relaxed.owl ICD9:299.80|MedDRA:10003747|SCTID:231536004|Orphanet:199627|ICD10:F84.1 owl:Class MONDO:0000594 biolink:NamedThing pervasive developmental disorder A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. tmpte7i6ely_mondo_relaxed.owl pervasive development disorders|pervasive child development disorders|pervasive development disorder NCIT:C97179|ICD9:299.80|DOID:0060040|MESH:D002659|SCTID:35919005 owl:Class UBERON:0011272 biolink:NamedThing embryonic skin basal layer tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:251 biolink:NamedThing ADH1C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001305 biolink:NamedThing laryngostenosis Narrowing of the laryngeal airway. tmpte7i6ely_mondo_relaxed.owl stenosis of larynx UMLS:C0023075|ICD9:478.74|SCTID:75547007|ICD10:J38.6|MESH:D007829|NCIT:C79608|DOID:11527|HP:0001602 owl:Class MONDO:0043176 biolink:NamedThing phosphoribosylpyrophosphate synthetase deficiency tmpte7i6ely_mondo_relaxed.owl deafness hyperuricemia neurologic ataxia|PRPP synthetase deficiency UMLS:C2931079|MESH:C537897|GARD:0004337|GARD:0001690|UMLS:C1291401|HGNC:9462|MESH:C535995|SCTID:124343001 https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity owl:Class MONDO:0019254 biolink:NamedThing inborn disorder of purine or pyrimidine metabolism tmpte7i6ely_mondo_relaxed.owl purine-pyrimidine metabolic disorder|inborn errors of purine-pyrimidine metabolism|inborn purine-pyrimidine metabolic disorder|disorder of purine or pyrimidine metabolism Orphanet:79224|ICD10:E79.0|MedDRA:10037546|ICD9:277.2|ICD10:E79.8|ICD10:E79.1|UMLS:C0034139|MESH:D011686|DOID:653|ICD10:E79.9 owl:Class MONDO:0014771 biolink:NamedThing Joubert syndrome 26 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene. tmpte7i6ely_mondo_relaxed.owl JBTS26|Joubert syndrome type 26|Joubert syndrome caused by mutation in KIAA0556|Joubert syndrome 26|KIAA0556 Joubert syndrome UMLS:C4084843|OMIM:616784|DOID:0110995 owl:Class MONDO:0010659 biolink:NamedThing FRAXE intellectual disability FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, associated with fragile site FRAXE|X-linked intellectual disability associated with fragile site FRAXE|X-linked mental retardation associated with fragile site FRAXE|mental retardation, X-linked, associated with fragile site FRAXE|FRAXE syndrome|fragile XE syndrome|intellectual disability associated with fragile site FRAXE|FRAXE mental retardation syndrome|fragile site, folic acid type|FRAXE intellectual disability|FRAXE intellectual disability syndrome UMLS:C0751157|OMIM:309548|Orphanet:100973|GARD:0002378|SCTID:716709002 https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome owl:Class UBERON:0002316 biolink:NamedThing white matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011670 biolink:NamedThing Ehlers-Danlos syndrome due to tenascin-X deficiency tmpte7i6ely_mondo_relaxed.owl classical-like EDS|EDS, classic-like type|EDS due to TNX deficiency|clEDS|Tnx deficiency|TNX deficiency|Ehlers-Danlos syndrome, classic-like type|Ehlers-Danlos syndrome, classic-like|Ehlers-Danlos syndrome due to tenascin-X deficiency|EDSCLL|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|classical-like Ehlers-Danlos syndrome|EDS due to Tnx deficiency Orphanet:230839|OMIM:606408|GARD:0008507|MESH:C536193|ICD10:Q79.6|UMLS:C1848029 owl:Class MONDO:0015880 biolink:NamedThing syndromic diaphragmatic or thoracic malformation tmpte7i6ely_mondo_relaxed.owl UMLS:CN226770|Orphanet:180779 owl:Class MONDO:0009094 biolink:NamedThing dermochondrocorneal dystrophy Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl FranC'ois syndrome|Francois syndrome|DCCD|dermochondrocorneal dystrophy|François syndrome|Dermochondrocorneal dystrophy of François GARD:0001815|OMIM:221800|SCTID:254150007|Orphanet:79149|MESH:C535375|UMLS:C0432288|ICD9:379.99 owl:Class MONDO:0011735 biolink:NamedThing hyper-IgM syndrome type 3 A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. tmpte7i6ely_mondo_relaxed.owl immunodeficiency with hyper IgM type 3|hyper-IgM syndrome 3|CD40 hyper-IgM syndrome|hyper IgM syndrome 3|hyper-IgM syndrome due to CD40 deficiency|immunodeficiency with hyper-IgM, type 3|CD40 deficiency|type 3 hyper-IgM immunodeficiency|HIGM3|immunodeficiency with hyper-IgM type 3|hyper-IgM syndrome caused by mutation in CD40 ICD10:D80.5|GARD:0010579|Orphanet:101090|OMIM:606843|DOID:0060023|Orphanet:183663 https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3 owl:Class MONDO:0015975 biolink:NamedThing hyper-IgM syndrome with susceptibility to opportunistic infections tmpte7i6ely_mondo_relaxed.owl HIGM with susceptibility to opportunistic infections OMIM:308230|OMIM:606843|Orphanet:183663|UMLS:CN200572|ICD10:D80.5 owl:Class MONDO:0010133 biolink:NamedThing thyroid dyshormonogenesis 2A Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. tmpte7i6ely_mondo_relaxed.owl thyroid hormonogenesis, genetic defect in, 2A|TPO familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 2A|TDH2A|iodide peroxidase deficiency|thyroid peroxidase deficiency|thyroid dyshormonogenesis type 2A|hypothyroidism, congenital, due to dyshormonogenesis, 2A|familial thyroid dyshormonogenesis caused by mutation in TPO SCTID:124204003|UMLS:C1291299|MESH:C563206|OMIM:274500|Orphanet:95716|NCIT:C121750|ICD9:277.6 owl:Class UBERON:0003833 biolink:NamedThing abdominal segment muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018094 biolink:NamedThing Waardenburg syndrome Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome|Waardenburg's syndrome|Van der Hoeve Halbertsma Waardenburg Gualdi syndrome|Mende syndrome|van der Hoeve Halbertsona Waardenburg syndrome|Waardenburg Shah syndrome|Waardenburg, types I and/or II NCIT:C75008|OMIM:606662|DOID:9258|NCIT:C85222|UMLS:C1847800|OMIM:193500|Orphanet:895|OMIM:148820|GARD:0005525|OMIM:600193|Orphanet:3440|OMIM:193510|OMIMPS:193500|OMIM:608890|OMIM:611584|ICD10:E70.3|SCTID:715952000|MedDRA:10069203 owl:Class MONDO:0013162 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|LGMD2N|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|LGMD-POMT2 related|MDDGC2|limb-girdle muscular dystrophy type 2N|POMT2 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2N|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298|OMIM:613158|Orphanet:206559|GARD:0012539|UMLS:C3150418|ICD10:G71.0 owl:Class MONDO:0700071 biolink:NamedThing myopathy caused by variation in POMT2 Any myopathy in which the cause of the disease is a variation in the POMT2 gene. tmpte7i6ely_mondo_relaxed.owl myopathy caused by mutation in POMT2|POMT2-related myopathy|POMT2 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007188 biolink:NamedThing primary basilar invagination Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. tmpte7i6ely_mondo_relaxed.owl Bull-Nixon syndrome|primary basilar impression|basilar impression, primary Orphanet:2285|GARD:0001037|MESH:C566226|ICD10:Q75.8|UMLS:C1862299|OMIM:109500 owl:Class HGNC:3072 biolink:NamedThing DUSP6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11581 biolink:NamedThing TBCD tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:116926 biolink:NamedThing Philophthalmidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:404429 biolink:NamedThing Echinostomatoidea tmpte7i6ely_mondo_relaxed.owl Cyclocoeloidea|Fascioloidea GC_ID:1 NCBITaxon:27842 ncbi_taxonomy owl:Class MONDO:0011276 biolink:NamedThing orofacial cleft 2 tmpte7i6ely_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 2|orofacial cleft 2|OFC2 OMIM:602966|DOID:0080396|Orphanet:1991|UMLS:C1864323|MESH:C566419 owl:Class MONDO:0009282 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. tmpte7i6ely_mondo_relaxed.owl ethylmalonic-Adipicaciduria|Etfa deficiency|Etfdh deficiency|Ga 2|multiple acyl-CoA dehydrogenase deficiency|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|glutaric aciduria 2|glutaric acidemia type 2|glutaric aciduria type 2|glutaric acidemia 2|glutaric acidemia type II|glutaric acidemia 2B|glutaric acidemia 2C|electron transfer flavoprotein deficiency|MADD|glutaric acidemia 2A|glutaric aciduria, type 2|EMA|Etfb deficiency|multiple acyl Coenzyme A dehydrogenase deficiency|MAD deficiency Orphanet:26791|NCIT:C84907|ICD10:E71.3|GARD:0006523|OMIM:231680|NCIT:C99102|UMLS:C0268596|ICD10:E71.313|DOID:0060358 Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). owl:Class MONDO:0016117 biolink:NamedThing muscular lipidosis tmpte7i6ely_mondo_relaxed.owl lipid storage myopathy SCTID:240095001|Orphanet:206953|ICD9:359.89|UMLS:C0410214 owl:Class MONDO:0017875 biolink:NamedThing Bolivian hemorrhagic fever Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations. tmpte7i6ely_mondo_relaxed.owl Machupo hemorrhagic fever UMLS:C0282192|ICD10:A96.1|Orphanet:319229|DOID:0050195|SCTID:67247008|MedDRA:10005932 owl:Class NCBITaxon:71274 biolink:NamedThing asterids tmpte7i6ely_mondo_relaxed.owl Asteridae PMID:12144762|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1437201 biolink:NamedThing Pentapetalae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013740 biolink:NamedThing lethal occipital encephalocele-skeletal dysplasia syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. tmpte7i6ely_mondo_relaxed.owl radiohumeral fusions with other skeletal and craniofacial anomalies|RHFCA UMLS:C3280729|ICD10:Q87.5|OMIM:614416|Orphanet:293925 owl:Class MONDO:0003478 biolink:NamedThing childhood ependymoma An ependymoma that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl ependymoma of childhood|ependymoma|childhood ependymoma|pediatric ependymoma MESH:C531673|DOID:5509|NCIT:C8578 owl:Class UBERON:0004454 biolink:NamedThing tarsal region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006716 biolink:NamedThing mesopodium region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011141 biolink:NamedThing megaloblastic anemia, folate-responsive tmpte7i6ely_mondo_relaxed.owl MEGAF|folate level in erythrocytes UMLS:C2749656|OMIM:601775 https://github.com/monarch-initiative/mondo/issues/4170 owl:Class MONDO:0000957 biolink:NamedThing lacrimal passage granuloma tmpte7i6ely_mondo_relaxed.owl granuloma of lacrimal passages SCTID:417563003|ICD10:H04.81|DOID:10174|ICD9:375.81|UMLS:C0155253 owl:Class MONDO:0006097 biolink:NamedThing atypical lipomatous tumor An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes. tmpte7i6ely_mondo_relaxed.owl ALT|superficial well differentiated liposarcoma|liposarcoma, well differentiated (morphologic abnormality)|lipoma-like liposarcoma|well differentiated liposarcoma|Atypical lipoma|well differentiated liposarcoma of superficial soft tissue NCIT:C6505|DOID:5690|ICDO:8850/1|EFO:1000099 owl:Class MONDO:0021354 biolink:NamedThing tumor of adipose tissue A neoplasm (disease) that involves the adipose tissue. tmpte7i6ely_mondo_relaxed.owl lipomatous neoplasm|lipomatous tumor|adipose tissue tumor|adipose tissue neoplasm (disease)|adipose tissue neoplasm|neoplasm of adipose tissue|tumor of adipose tissue|tumor of the adipose tissue|neoplasm of the adipose tissue SCTID:254831005|NCIT:C4248|UMLS:C0206631|ICD9:239.2 owl:Class GO:1904099 biolink:NamedThing negative regulation of protein O-linked glycosylation Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation. tmpte7i6ely_mondo_relaxed.owl down-regulation of protein O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|negative regulation of protein amino acid O-linked glycosylation|downregulation of protein O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|inhibition of protein O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation owl:Class MONDO:0019065 biolink:NamedThing amyloidosis A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. tmpte7i6ely_mondo_relaxed.owl amyloid disease|amyloidosis|amyloid|amyloidosis (disease)|amyloidoses amyloidosis (disease) HP:0011034|EFO:1001875|ICD10:E85.3|SCTID:17602002|ICD10:E85.4|ICD9:277.30|ICD10:E85.8|ICD10:E85.2|ICD10:E85.9|Orphanet:69|ICD9:277.3|UMLS:C0002726|MedDRA:10002022|ONCOTREE:MIDDA|NCIT:C2868|ICD10:E85.0|MESH:D000686|ICD10:E85.1|ICD10:E85|DOID:9120 Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes owl:Class GO:0044264 biolink:NamedThing cellular polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular glycan metabolic process|cellular polysaccharide metabolism|cellular glycan metabolism owl:Class GO:0044260 biolink:NamedThing cellular macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular macromolecule metabolism|cellular biopolymer metabolic process owl:Class HP:0000759 biolink:NamedThing Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). tmpte7i6ely_mondo_relaxed.owl Peripheral nervous system disease|Abnormal peripheral nervous system structure UMLS:C4025831|SNOMEDCT_US:42658009|MSH:D010523|SNOMEDCT_US:302226006|UMLS:C0031117 The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. HP:0003483 human_phenotype owl:Class GO:0005996 biolink:NamedThing monosaccharide metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpte7i6ely_mondo_relaxed.owl monosaccharide metabolism owl:Class GO:0070257 biolink:NamedThing positive regulation of mucus secretion Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl positive regulation of mucus production owl:Class MONDO:0003199 biolink:NamedThing anal carcinoma A carcinoma that arises from epithelial cells of the anus tmpte7i6ely_mondo_relaxed.owl carcinoma of anus|cancer of the anus|anus carcinoma|carcinoma of the anus|anal carcinoma|cancer of anus|anal cancer|Ca anus SCTID:255084004|SCTID:448315008|UMLS:C0279637|MESH:D001005|NCIT:C9291|DOID:4908 owl:Class GO:1905330 biolink:NamedThing regulation of morphogenesis of an epithelium Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium. tmpte7i6ely_mondo_relaxed.owl regulation of epithelium morphogenesis owl:Class PATO:0000586 biolink:NamedThing increased size A size quality which is relatively high. tmpte7i6ely_mondo_relaxed.owl enlarged|big|large|expanded|great owl:Class PATO:0000117 biolink:NamedThing size A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000412 biolink:NamedThing endothelial cell of arteriole An endothelial cell that is part of the arteriole. tmpte7i6ely_mondo_relaxed.owl FMA:67760|KUPO:0001097 cell owl:Class MONDO:0026767 biolink:NamedThing immunodeficiency 74, COVID-19-related, X-linked tmpte7i6ely_mondo_relaxed.owl IMD74|TLR7 deficiency|respiratory insufficiency due to SARS-CoV-2 viral infection|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED OMIM:301051 owl:Class NCBITaxon:1463975 biolink:NamedThing Cryptostroma corticale tmpte7i6ely_mondo_relaxed.owl Coniosporium corticale GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1463974 biolink:NamedThing Cryptostroma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009215 biolink:NamedThing Fanconi anemia complementation group A Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia complementation group type A|Fanconi Anemia, Estren-Dameshek variant|FANCA|FANCA Fanconi anemia|Fanconi anemia caused by mutation in FANCA|Estren-Dameshek variant of Fanconi Anemia|Fanconi anemia complementation group A|Fanconi Anemia|Fanconi anemia, complementation group A|Estren-Dameshek variant of Fanconi pancytopenia|Fanconi Anemia, complementation group type a DOID:0111095|OMIM:227650|Orphanet:84|UMLS:CN653908|EFO:0009044|GTR:AN1051558|NCIT:C125702 owl:Class MONDO:0015195 biolink:NamedThing atresia of urethra Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. tmpte7i6ely_mondo_relaxed.owl atresia of urethra|atresia of urethra (disease)|urethral atresia atresia of urethra (disease) HP:0000068|Orphanet:105|MedDRA:10064895|ICD10:Q64.3|SCTID:253902002 owl:Class MONDO:0006845 biolink:NamedThing male genital tuberculosis Mycobacterium infections of the male reproductive tract (genitalia, male). tmpte7i6ely_mondo_relaxed.owl Tuberculoses, Male genital|Male genital Tuberculoses|genital tuberculosis, Male|genital Tuberculoses, Male|male genital tuberculosis|male reproductive system tuberculosis MedDRA:10061234|UMLS:C0041317|MESH:D014389|SCTID:240379005|EFO:1001030 owl:Class MONDO:0021966 biolink:NamedThing baker Vinters syndrome A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies GARD:0000808|UMLS:C2931659|MESH:C537899 https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome owl:Class MONDO:0001150 biolink:NamedThing hydrocephalus A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. tmpte7i6ely_mondo_relaxed.owl hydrocephalus, nonsyndromic, autosomal recessive|hydrocephalus, X-linked Orphanet:2185|ICD10:G91|SCTID:230745008|Orphanet:2182|OMIM:236635|DOID:10908|NCIT:C3111|OMIM:123155|MESH:D006849|OMIM:615219|ICD10:G91.9|OMIM:236600|OMIM:307000 owl:Class UBERON:0018117 biolink:NamedThing left renal cortex interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005270 biolink:NamedThing renal cortex interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008617 biolink:NamedThing inflammatory bowel disease 11 An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 11|IBD11|inflammatory bowel disease type 11 UMLS:C2674051|DOID:0110894|OMIM:191390|MESH:C567154 owl:Class MONDO:0009722 biolink:NamedThing Bailey-Bloch congenital myopathy Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. tmpte7i6ely_mondo_relaxed.owl Native American myopathy|myopathy, congenital, with cleft palate and malignant hyperthermia|Bailey-Bloch congenital myopathy|STAC3 disorder|congenital myopathy cleft palate and malignant hyperthermia|congenital myopathy - cleft palate - malignant hyperthermia|congenital myopathy-cleft palate-malignant hyperthermia syndrome|NAM MESH:C538343|Orphanet:168572|DOID:0060346|SCTID:723439002|OMIM:255995|UMLS:C1850625|GARD:0008432|ICD10:G71.2 https://github.com/monarch-initiative/mondo/issues/1377 owl:Class NCBITaxon:2601530 biolink:NamedThing Eutetramitia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2601529 biolink:NamedThing Tetramitia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1903109 biolink:NamedThing positive regulation of mitochondrial transcription Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion. tmpte7i6ely_mondo_relaxed.owl positive regulation of transcription from mitochondrial promoter|up-regulation of transcription from mitochondrial promoter|activation of transcription from mitochondrial promoter|up-regulation of mitochondrial transcription|upregulation of transcription from mitochondrial promoter|activation of mitochondrial transcription|up regulation of mitochondrial transcription|upregulation of mitochondrial transcription|positive regulation of mitochondrial transcription|up regulation of transcription from mitochondrial promoter owl:Class MONDO:0014976 biolink:NamedThing lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. tmpte7i6ely_mondo_relaxed.owl MIPEP combined oxidative phosphorylation deficiency|COXPD31|combined oxidative phosphorylation deficiency type 31|combined oxidative phosphorylation deficiency 31|combined oxidative phosphorylation deficiency caused by mutation in MIPEP Orphanet:478049|UMLS:C4310661|OMIM:617228|DOID:0111488 owl:Class MONDO:0008232 biolink:NamedThing phagocytosis, plasma-related defect 1N tmpte7i6ely_mondo_relaxed.owl phagocytosis, plasma-related defect type 1N|phagocytosis, plasma-RELATED defect IN UMLS:C1868402|OMIM:171100|MESH:C566808 owl:Class MONDO:0016838 biolink:NamedThing 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. tmpte7i6ely_mondo_relaxed.owl chromosome 16q24.3 microdeletion syndrome|monosomy 16q24.3|Del(16)(q24.3) UMLS:CN202174|SCTID:719580004|UMLS:C4304594|GARD:0010935|ICD10:Q93.5|Orphanet:261250 https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome owl:Class MONDO:0016914 biolink:NamedThing partial deletion of the long arm of chromosome 16 tmpte7i6ely_mondo_relaxed.owl partial monosomy of the long arm of chromosome 16|partial deletion of chromosome 16q|partial deletion of the long arm of chromosome type 16|partial monosomy of chromosome 16q Orphanet:262128|ICD10:Q93.5 owl:Class MONDO:0020235 biolink:NamedThing lens size anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98652 owl:Class CL:1000891 biolink:NamedThing kidney arterial blood vessel cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001029 cell owl:Class CL:1000854 biolink:NamedThing kidney blood vessel cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001014 cell owl:Class UBERON:0007272 biolink:NamedThing pectoral appendage skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010949 biolink:NamedThing sternooccipital muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001255 biolink:NamedThing ventilation pneumonitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. tmpte7i6ely_mondo_relaxed.owl Air-conditioner and humidifier lung|humidifier lung|ventilation systems lung|humidifiers lung ICD9:495.7|ICD10:J67.7|UMLS:C0155891|DOID:11289|SCTID:195990006 owl:Class MONDO:0014109 biolink:NamedThing NGLY1-deficiency A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. tmpte7i6ely_mondo_relaxed.owl congenital disorder of deglycosylation|NGLY1 deficiency|CDG IV|congenital disorder of glycosylation, type IV|deficiency of N-glycanase 1|CDDG|alacrimia - choreoathetosis - liver dysfunction syndrome|NGLY1-deficiency|CDG IV, formerly|NGLY1-CDDG|congenital disorder of glycosylation type IV; CDG1V|congenital disorder of glycosylation type IV|congenital disorder of deglycosylation;CDDG|congenital disorder of glycosylation, type IV, formerly SCTID:768846004|Orphanet:404454|ICD10:E77.8|GARD:0012315|NCIT:C126746|OMIM:615273|UMLS:C3808991|DOID:0060728 owl:Class MONDO:0006402 biolink:NamedThing salivary gland basal cell adenocarcinoma A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients. tmpte7i6ely_mondo_relaxed.owl basal cell adenocarcinoma of the salivary gland|basal cell adenocarcinoma|basal cell adenocarcinoma of salivary gland|salivary gland basal cell adenocarcinoma|skin basal cell carcinoma of saliva-secreting gland|saliva-secreting gland skin basal cell carcinoma ICDO:8147/3|EFO:1000515|NCIT:C3678 owl:Class MONDO:0044740 biolink:NamedThing salivary gland squamous cell carcinoma A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of salivary gland|squamous cell carcinoma of salivary glands|squamous cell carcinoma of salivary gland|salivary gland squamous cell cancer|saliva-secreting gland squamous cell carcinoma|salivary gland SCC|salivary gland epidermoid carcinoma|epidermoid carcinoma of the salivary gland|salivary gland squamous cell carcinoma|SCC of the salivary gland|SCC of salivary gland|squamous cell carcinoma of the salivary gland EFO:1001967|OMIM:275355|NCIT:C7991|Orphanet:500481|UMLS:C0279697 owl:Class MONDO:0005933 biolink:NamedThing pulmonary blastoma A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic. tmpte7i6ely_mondo_relaxed.owl pulmonary blastoma|lung blastoma|Pneumoblastoma|blastoma of lung|blastoma of the lung NCIT:C3732|DOID:4765|EFO:0007458|ICD9:162.9|ICD10:C34.2|ICD10:C34.9|ICD10:C34.3|Orphanet:64741|UMLS:C0206629|ICD10:C34.8|ICDO:8972/3|MESH:D018202|ICD10:C34.1|SCTID:189815007 owl:Class MONDO:0005565 biolink:NamedThing blastoma A malignant neoplasm composed of undifferentiated cells. tmpte7i6ely_mondo_relaxed.owl blastoma|embryoma UMLS:C0936282|ICDO:8981/3|EFO:0005785|DOID:0070003|DOID:4766|NCIT:C8997 owl:Class MONDO:0000371 biolink:NamedThing oral cavity carcinoma in situ A in situ carcinoma that involves the oral cavity. tmpte7i6ely_mondo_relaxed.owl stage 0 oral cavity cancer aJCC v6|oral cavity in situ carcinoma|carcinoma in situ of the oral cavity|stage 0 carcinoma of mouth|stage 0 carcinoma of oral cavity|carcinoma in situ of oral cavity|stage 0 oral cavity carcinoma|mouth carcinoma in situ|stage 0 oral cavity cancer|stage 0 carcinoma of the mouth|carcinoma in situ of mouth|stage 0 mouth carcinoma|carcinoma in situ of the mouth|stage 0 oral cavity cancer aJCC v6 and v7|stage 0 oral cavity cancer aJCC v7|stage 0 carcinoma of the oral cavity NCIT:C4587|DOID:0050610|UMLS:C0347073|SCTID:92660005 MONDO:0021286 owl:Class OBO:CHR_9606-chr15q biolink:NamedThing 15q (Human) tmpte7i6ely_mondo_relaxed.owl 101991189 19000000 hg38 owl:Class MONDO:0004266 biolink:NamedThing anal gland adenocarcinoma An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the anal gland|anal glands adenocarcinoma|adenocarcinoma of anal gland|adenocarcinoma of anal ducts DOID:7531|UMLS:C1266027|ICDO:8215/3|ONCOTREE:AGA|NCIT:C5609 owl:Class MONDO:0002652 biolink:NamedThing anus adenocarcinoma An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis. tmpte7i6ely_mondo_relaxed.owl anus adenocarcinoma|adenocarcinoma of the anus|adenocarcinoma of anus|anal adenocarcinoma UMLS:C1332257|NCIT:C5600|DOID:3447|SCTID:423607006 owl:Class GO:0016408 biolink:NamedThing C-acyltransferase activity Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016747 biolink:NamedThing acyltransferase activity, transferring groups other than amino-acyl groups Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl transferase activity, transferring groups other than amino-acyl groups|transferase activity, transferring acyl groups other than amino-acyl groups owl:Class MONDO:0014428 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 102 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 102|autosomal recessive nonsyndromic deafness type 102|EPS8 autosomal recessive nonsyndromic deafness|DFNB102|deafness, autosomal recessive type 102|deafness, autosomal recessive 102|autosomal recessive nonsyndromic deafness caused by mutation in EPS8|autosomal recessive deafness 102 DOID:0110463|OMIM:615974|ICD10:H90.3|UMLS:C3892050 owl:Class MONDO:0004526 biolink:NamedThing mixed endometrial stromal and smooth muscle tumor A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl mixed endometrial stromal and smooth muscle neoplasm|uterine corpus soft tissue neoplasm|Stromomyoma NCIT:C40178|UMLS:C1513364|DOID:8302|UMLS:C1519865 owl:Class UBERON:0003649 biolink:NamedThing metacarpal bone of digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013585 biolink:NamedThing metapodium bone 5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044325 biolink:NamedThing transmembrane transporter binding Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl ion channel binding owl:Class MONDO:0044113 biolink:NamedThing bullous systemic lupus erythematosus A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. tmpte7i6ely_mondo_relaxed.owl BSLE|bullous systemic lupus erythematosus SCTID:239889005|NCIT:C117104|Orphanet:46489|UMLS:C0409977|EFO:0008619 owl:Class MONDO:0005282 biolink:NamedThing cutaneous lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. tmpte7i6ely_mondo_relaxed.owl lupus erythematosus, cutaneous UMLS:C0024137|EFO:0003834|MESH:D008178|GARD:0006225|SCTID:7119001|NCIT:C26819|DOID:0050169 https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus owl:Class MONDO:0001769 biolink:NamedThing acquired tear duct stenosis tmpte7i6ely_mondo_relaxed.owl acquired stenosis of nasolacrimal duct|acquired nasolacrimal duct stenosis|stenosis of nasolacrimal duct, acquired|tear duct - acquired stenosis DOID:13655|ICD10:H04.55|ICD9:375.56|SCTID:193995004 owl:Class MONDO:0007982 biolink:NamedThing metaphyseal chondrodysplasia, Jansen type Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. tmpte7i6ely_mondo_relaxed.owl Jansen type metaphyseal chondrodysplasia|Jansen disease|murk Jansen type metaphyseal chondrodysplasia|Jansen metaphyseal dysostosis|metaphyseal chondrodysplasia murk Jansen type|Jansen's metaphyseal chondrodysplasia|Jansen metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, Jansen type|metaphyseal chondrodysplasia, murk Jansen type DOID:0080020|NCIT:C131868|GARD:0000079|ICD10:Q78.5|MESH:C537564|Orphanet:33067|UMLS:C0265295|SCTID:24629003|OMIM:156400 MONDO:0000842 owl:Class MONDO:0021541 biolink:NamedThing hemangioma of retina A hemangioma that involves the retina. tmpte7i6ely_mondo_relaxed.owl retinal angioma|retina hemangioma|hemangioma of the retina|retinal hemangioma|retina angioma|angioma of the retina|angioma of retina SCTID:93470007|UMLS:C0154051|ICD9:228.03|NCIT:C3634 owl:Class MONDO:0006516 biolink:NamedThing sarcopenia Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. tmpte7i6ely_mondo_relaxed.owl UMLS:C0872084|MESH:D055948|EFO:1000653|MedDRA:10063024|ICD10:M62.84 owl:Class MONDO:0005116 biolink:NamedThing Whipple disease A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl intestinal lipophagic granulomatosis|Whipple disease|Whipple's disease|intestinal lipodystrophy|Tropheryma whipplei caused disease or disorder|Tropheryma whippelii infection|Tropheryma whipplei disease or disorder|Tropheryma whipplei infectious disease|secondary non-tropical sprue UMLS:C2930851|GARD:0007889|ICD10:K90.81|ICD10:K90.8+|DOID:8476|EFO:0000775|ICD10:M14.8*|MESH:D008061|UMLS:C0023788|UMLS:CN204440|NCIT:C85228|ICD9:040.2|MedDRA:10047931|Orphanet:3452|SCTID:41545003 owl:Class MONDO:0009984 biolink:NamedThing late-adult onset retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa, late-ADULT onset|retinitis pigmentosa, 'Senile'|senile retinitis pigmentosa MESH:C564840|DOID:0110421|ICD10:H35.5|OMIM:268025|UMLS:C1849400 owl:Class MONDO:0010948 biolink:NamedThing cataract 10 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene. tmpte7i6ely_mondo_relaxed.owl CTRCT10|CRYBA1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in CRYBA1|cataract, congenital zonular, with sutural opacities|congenital zonular cataract with sutural opacities|CCZS|cataract 10, multiple types Orphanet:98985|UMLS:C1833229|OMIM:600881|Orphanet:91492|ICD10:Q12.0|Orphanet:98995|MESH:C563435|DOID:0110258 owl:Class GO:0061133 biolink:NamedThing endopeptidase activator activity Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016504 biolink:NamedThing peptidase activator activity Binds to and increases the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpte7i6ely_mondo_relaxed.owl protease activator activity owl:Class MONDO:0003720 biolink:NamedThing kidney fibrosarcoma A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl fibrosarcoma of the kidney|renal fibrosarcoma|fibrosarcoma of kidney|kidney fibrosarcoma|kidney fibrosarcoma (disease) DOID:5982|NCIT:C7726|UMLS:C0238208 owl:Class UBERON:0003119 biolink:NamedThing pharyngeal arch artery 2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005362 biolink:NamedThing erectile dysfunction Persistent or recurrent inability to achieve or to maintain an erection during sexual activity. tmpte7i6ely_mondo_relaxed.owl male erectile Disorder|male impotence|dysfunction, erectile|male sexual impotence|impotence|impotence, male|erectile dysfunction|sexual impotence|sexual impotence, Male|erectile dysfunction (disease)|impotence, male sexual|sexual impotence (finding) erectile dysfunction (disease) DOID:1875|SCTID:397803000|MESH:D007172|EFO:0004234|NCIT:C34801|NCIT:C3133|HP:0000802 owl:Class MONDO:0001882 biolink:NamedThing bacteriuria The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. tmpte7i6ely_mondo_relaxed.owl bacteriuria (disease)|bacteriuria bacteriuria (disease) UMLS:C0004659|MedDRA:10004056|HP:0012461|MESH:D001437|DOID:1412|CSP:3045-9976 owl:Class MONDO:0002118 biolink:NamedThing urinary system disorder A disease involving the renal system. tmpte7i6ely_mondo_relaxed.owl urological diseases|diseases, urological|urological disease|urological disorders|urologic disease|urinary tract disease|disease, urologic|urinary system disorder|disorder of renal system|non-neoplastic urinary tract disease|disease or disorder of renal system|urinary disease|disorder of the urinary system|disease of renal system|disease, urinary tract|urologic disorder|urinary tract disorder|urinary tract diseases|renal system disease|disorder of urinary system|renal system disease or disorder|diseases, urologic|urological disorder|diseases, urinary tract|urinary system disease|disease, urological SCTID:128606002|ICD9:V47.4|UMLS:C1335051|MESH:D014570|DOID:18|NCIT:C3430 owl:Class MONDO:0060781 biolink:NamedThing Preeyasombat-Varavithya syndrome tmpte7i6ely_mondo_relaxed.owl Fanconi syndrome caused by degraded tetracycline MESH:C535269|UMLS:C2930859 owl:Class MONDO:0001083 biolink:NamedThing Fanconi renotubular syndrome A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. tmpte7i6ely_mondo_relaxed.owl Lignac-Fanconi syndrome|Fanconi-de toni syndrome|deToni Fanconi syndrome|De toni-Fanconi syndrome|adult Fanconi syndrome|Fanconi's syndrome|De toni-debre-Fanconi syndrome|Fanconi syndrome|toni-debre-Fanconi syndrome|Fanconi-de-toni syndrome|infantile nephropathic cystinosis|congenital Fanconi syndrome MESH:D005198|Orphanet:3337|SCTID:40488004|DOID:1062|UMLS:C0015624|GARD:0009120|NCIT:C3034 adult Fanconi Anemia https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome owl:Class MONDO:0014378 biolink:NamedThing primary ciliary dyskinesia 29 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia type 29|ciliary dyskinesia, primary, 29, without situs inversus|CILD29|ciliary dyskinesia, primary, 29|CCNO primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in CCNO|ciliary dyskinesia, primary, type 29 DOID:0110600|UMLS:C4014534|ICD10:Q34.8|OMIM:615872|Orphanet:244 owl:Class UBERON:0005461 biolink:NamedThing levator scapulae muscle tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11292 biolink:NamedThing Rabies lyssavirus tmpte7i6ely_mondo_relaxed.owl Rabies virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11286 biolink:NamedThing Lyssavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100446 biolink:NamedThing CNGB3-related retinopathy A retinopathy caused by biallelic variants in the CNGB3 gene. tmpte7i6ely_mondo_relaxed.owl rod monochromacy 1, formerly|achromatopsia with myopia|CNGB3 retinopathy|ACHM1, formerly|RMCH1|Rod monochromatism 1 (formerly)|rod monochromatism 1, formerly|ACHM3|ACHM1|total colorblindness with myopia|RMCH1 (formerly)|achromatopsia 3|rod monochromatism 1|rod monochromacy 1|ACHM1 (formerly)|achromatopsia caused by mutation in CNGB3|achromatopsia type 3|Rod monochromacy 1 (formerly)|CNGB3 achromatopsia owl:Class GO:0042327 biolink:NamedThing positive regulation of phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. tmpte7i6ely_mondo_relaxed.owl stimulation of phosphorylation|up regulation of phosphorylation|upregulation of phosphorylation|activation of phosphorylation|up-regulation of phosphorylation owl:Class MONDO:0011922 biolink:NamedThing nonimmune chronic idiopathic neutropenia of adults tmpte7i6ely_mondo_relaxed.owl nonimmune chronic idiopathic neutropenia of adults|neutropenia, nonimmune chronic idiopathic, of adults|adult idiopathic neutropenia|NI-CINA MESH:C564320|UMLS:C1842930|OMIM:607847|ICD10:D70|Orphanet:2688 owl:Class HP:0012210 biolink:NamedThing Abnormal renal morphology Any structural anomaly of the kidney. tmpte7i6ely_mondo_relaxed.owl Abnormal kidney morphology|Structural kidney abnormalities|Renal malformation|Kidney malformation|Abnormally shaped kidney|Kidney structure issue|Structural anomalies of the renal tract|Structural renal anomalies UMLS:C0266292|SNOMEDCT_US:44513007|Fyler:4512 peter 2013-03-14T07:41:11Z HP:0004726|HP:0000792|HP:0004735|HP:0008712 human_phenotype owl:Class GO:0040017 biolink:NamedThing positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. tmpte7i6ely_mondo_relaxed.owl up-regulation of locomotion|up regulation of locomotion|activation of locomotion|stimulation of locomotion|upregulation of locomotion owl:Class HGNC:9439 biolink:NamedThing DNAJC3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071708 biolink:NamedThing immunoglobulin light chain V-J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpte7i6ely_mondo_relaxed.owl immunoglobulin V-J joining|immunoglobulin V(D)J joining|immunoglobulin V(D)J recombination owl:Class GO:0033152 biolink:NamedThing immunoglobulin V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. tmpte7i6ely_mondo_relaxed.owl immunoglobulin V-D-J recombination|immunoglobulin V-J recombination|immunoglobulin V-D-J joining|immunoglobulin V(D)J joining|immunoglobulin V-J joining owl:Class MONDO:0000461 biolink:NamedThing nutritional biotin deficiency tmpte7i6ely_mondo_relaxed.owl biotin deficiency|biotin deficiency disease|vitamine B7 deficiency|B7 deficiency SCTID:49607006|DOID:0050810|MESH:C531633 Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? owl:Class MONDO:0024298 biolink:NamedThing vitamin deficiency disorder A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. tmpte7i6ely_mondo_relaxed.owl vitamin deficiency disorder|Avitaminoses|vitamin deficiencies|vitamin deficiency|deficiency, vitamin|avitaminosis|deficiencies, vitamin NCIT:C35772|UMLS:C1510471|UMLS:C0376286|ICD9:269.1|EFO:0005878|ICD9:269.2|SCTID:85670002|MESH:D001361 owl:Class MONDO:0008028 biolink:NamedThing muscular dystrophy, Barnes type tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, Barnes type OMIM:158800|MESH:C563558|UMLS:C1834688 owl:Class MONDO:0005387 biolink:NamedThing primary ovarian failure Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. tmpte7i6ely_mondo_relaxed.owl primary female hypogonadism|premature ovarian failure|premature menopause|primary ovarian failure|hypergonadotropic hypogonadism (female)|premature ovarian insufficiency|female hypergonadotropic hypogonadism|hypergonadotropic hypogonadism|hypergonadotrophic ovarian failure|primary ovarian insufficiency SCTID:65846009|ICD10:E28.3|UMLS:C0085215|Orphanet:619|DOID:5426|MESH:D016649|ICD9:253.4|SCTID:237788002|SCTID:370999003|EFO:0004266|ICD9:256.39|NCIT:C113352 owl:Class UBERON:0005837 biolink:NamedThing fasciculus of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010741 biolink:NamedThing bone of pectoral complex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010740 biolink:NamedThing bone of appendage girdle complex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7869 biolink:NamedThing NOL3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011197 biolink:NamedThing parathyroid epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001471 biolink:NamedThing skin of prepuce of penis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018710 biolink:NamedThing megalencephaly-severe kyphoscoliosis-overgrowth syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:617011|Orphanet:457359 owl:Class GO:0016229 biolink:NamedThing steroid dehydrogenase activity Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016376 biolink:NamedThing confetti-like macular atrophy tmpte7i6ely_mondo_relaxed.owl ICD10:L90.8|Orphanet:221142 owl:Class ENVO:01000048 biolink:NamedThing ocean biome A marine biome which is determined by an ocean. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11598 biolink:NamedThing TBX20 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002548 biolink:NamedThing cellular schwannoma A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies. tmpte7i6ely_mondo_relaxed.owl cellular neurinoma|cellular schwannoma|cellular neurilemmoma|CSCHW SCTID:404026003|ICD9:215.9|UMLS:C0431124|ONCOTREE:CSCHW|NCIT:C4724|DOID:3196 owl:Class MONDO:0002546 biolink:NamedThing schwannoma A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. tmpte7i6ely_mondo_relaxed.owl benign schwannoma|schwannoma (WHO grade I)|neurilemmoma|benign neurilemmoma|peripheral fibroblastoma|SCHW|neurolemmoma|psammomatous schwannoma|schwannoma, benign|schwannoma|neurinoma ICDO:9560/0|ICD9:215.9|MedDRA:10029234|DOID:3192|NCIT:C3269|EFO:0000693|MedDRA:10029235|SCTID:404022001|UMLS:C0027809|UMLS:CN202001|DOID:955|ONCOTREE:SCHW|Orphanet:252164|GARD:0004767 https://rarediseases.info.nih.gov/diseases/4767/schwannoma owl:Class CHEBI:83057 biolink:NamedThing Daphnia metabolite A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia tmpte7i6ely_mondo_relaxed.owl Daphnia metabolites owl:Class CHEBI:83039 biolink:NamedThing crustacean metabolite An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill. tmpte7i6ely_mondo_relaxed.owl crustacean metabolites owl:Class MONDO:0004021 biolink:NamedThing mediastinal malignant lymphoma A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl primary mediastinal lymphoma|lymphoma of the mediastinum|lymphoma of mediastinum|mediastinal lymphoma|mediastinum lymphoma|mediastinal malignant lymphoma NCIT:C6633|DOID:6868|UMLS:C1334665 owl:Class MONDO:0005843 biolink:NamedThing mediastinal cancer A malignant neoplasm involving the mediastinum tmpte7i6ely_mondo_relaxed.owl malignant tumor of mediastinum|mediastinum cancer|malignant neoplasm of mediastinum|malignant mediastinal tumor|mediastinal tumor|malignant neoplasm of the mediastinum|mediastinal cancer|malignant tumor of the mediastinum|cancer of mediastinum|tumour of mediastinum|malignant mediastinal neoplasm|cancer of the mediastinum|malignant mediastinum neoplasm NCIT:C3221|ICD10:C38.3|SCTID:126725000|EFO:0007362|NCIT:C3549|DOID:5559|SCTID:363494000|MESH:D008479|ICD9:164.9 owl:Class MONDO:0042370 biolink:NamedThing Yersinia enterocolitica infectious disease tmpte7i6ely_mondo_relaxed.owl infection caused by Yersinia enterocolitica|infection by Yersinia enterocolitica SCTID:80960004 owl:Class CHEBI:16990 biolink:NamedThing bilirubin IXalpha A member of the class of biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin. tmpte7i6ely_mondo_relaxed.owl 8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione|2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid|3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|bilirubin|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|bilirubin-IXalpha|Bilirubin|1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid|bilirubin(Z,Z) owl:Class CHEBI:36735 biolink:NamedThing biladienes Compounds based on a biladiene skeleton. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35718 biolink:NamedThing antifungal agent An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce. tmpte7i6ely_mondo_relaxed.owl antifungals|antifungal drugs|antifungal|antifungal drug|antifungal agents owl:Class CHEBI:33281 biolink:NamedThing antimicrobial agent A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. tmpte7i6ely_mondo_relaxed.owl Antibiotika|antibiotique|microbicide|antibiotic|antibiotics|antimicrobial|antimicrobial agents|Antibiotikum|microbicides|antimicrobials owl:Class GO:0005244 biolink:NamedThing voltage-gated ion channel activity Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpte7i6ely_mondo_relaxed.owl voltage-dependent ion channel activity|voltage gated ion channel activity owl:Class GO:0015075 biolink:NamedThing ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl ion transporter activity owl:Class HP:0002209 biolink:NamedThing Sparse scalp hair Decreased number of hairs per unit area of skin of the scalp. tmpte7i6ely_mondo_relaxed.owl Reduced/lack of hair on scalp|Scalp hypotrichosis|Scalp hair, thinning|Reduction in the number of scalp follicles|sparse-absent scalp hair|Sparse scalp hair|Decreased number of scalp follicles|Sparse, thin scalp hair|Thin scalp hair|Hypotrichosis on scalp UMLS:C1857042|UMLS:C1873509 Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. HP:0004542|HP:0004534|HP:0004782|HP:0004526|HP:0004774|HP:0002233|HP:0004775|HP:0004772|HP:0002556|HP:0004541 human_phenotype owl:Class HP:0100037 biolink:NamedThing Abnormality of the scalp hair An abnormality of the hair of head. tmpte7i6ely_mondo_relaxed.owl Abnormality of the scalp hair UMLS:C4022384 doelkens 2010-06-22T05:29:31Z human_phenotype owl:Class MONDO:0011823 biolink:NamedThing developmental malformations-deafness-dystonia syndrome Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. tmpte7i6ely_mondo_relaxed.owl juvenile-onset dystonia|dystonia, juvenile-onset|DJO Orphanet:79107|UMLS:C1846331|ICD10:Q87.8|OMIM:607371|MESH:C537704|GARD:0009818 https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia owl:Class MONDO:0015295 biolink:NamedThing intractable diarrhea-choanal atresia-eye anomalies syndrome Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. tmpte7i6ely_mondo_relaxed.owl UMLS:CN226653|ICD10:Q87.8|Orphanet:137622 owl:Class MONDO:0019126 biolink:NamedThing intractable diarrhea of infancy Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. tmpte7i6ely_mondo_relaxed.owl IDI Orphanet:73014 owl:Class GO:0072330 biolink:NamedThing monocarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpte7i6ely_mondo_relaxed.owl monocarboxylic acid anabolism|monocarboxylic acid formation|monocarboxylic acid biosynthesis|monocarboxylic acid synthesis owl:Class GO:0032787 biolink:NamedThing monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). tmpte7i6ely_mondo_relaxed.owl monocarboxylic acid metabolism|monocarboxylate metabolic process owl:Class MONDO:0011315 biolink:NamedThing Osebold skeletal dysplasia/osteolysis syndrome tmpte7i6ely_mondo_relaxed.owl Osebold skeletal dysplasia/osteolysis syndrome UMLS:C1863922|OMIM:603389|MESH:C566380 owl:Class MONDO:0002480 biolink:NamedThing endometrioid tumor A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpte7i6ely_mondo_relaxed.owl endometrioid tumor (morphologic abnormality)|endometrioid neoplasm|female reproductive endometrioid cancer|endometrioid tumor of the female reproductive system|endometrioid tumor of female reproductive system|endometrioid tumor|endometrioid neoplasm of female reproductive system|female reproductive endometrioid tumor|endometrioid neoplasm of the female reproductive system|female reproductive endometrioid neoplasm EFO:0009118|NCIT:C7113|DOID:3001|UMLS:C0474809 owl:Class MONDO:0021148 biolink:NamedThing female reproductive system neoplasm A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. tmpte7i6ely_mondo_relaxed.owl tumor of the female reproductive system|neoplasm of the female reproductive system|female reproductive system neoplasm|gynecologic neoplasm|gynecologic tumor|neoplasm of female reproductive system|female reproductive organ neoplasm (disease)|tumor of female reproductive system|female reproductive organ tumor|female reproductive system tumor|neoplasm of female reproductive organ|female reproductive system neoplasm (disease) MESH:D005833|UMLS:C0017416|NCIT:C3053|EFO:1001331 owl:Class HGNC:11283 biolink:NamedThing SRC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033662 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and brain atrophy tmpte7i6ely_mondo_relaxed.owl NEDMISB OMIM:619076 owl:Class HGNC:1967 biolink:NamedThing CHRNG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015538 biolink:NamedThing indeterminate dendritic cell tumor A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable. tmpte7i6ely_mondo_relaxed.owl indeterminate dendritic cell tumor|indeterminate cell histiocytosis|indeterminate Dendritic cell tumor|IDCT ICD10:D76.3|ONCOTREE:IDCT|Orphanet:158019|SCTID:721313009|NCIT:C81767|UMLS:C2825741 owl:Class MONDO:0006247 biolink:NamedThing histiocytic and dendritic cell neoplasm Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl histiocytic and dendritic cell|histiocytic and dendritic cell tumor|histiocytic and dendritic cell neoplasm|histiocytic and Dendritic cell tumors|histiocytic and dendritic cell cancer|histiocytic and Dendritic cell neoplasms DOID:5621|UMLS:C1334030|EFO:1000297|Orphanet:98287|UMLS:CN206982|NCIT:C9294 owl:Class MONDO:0006648 biolink:NamedThing anterior compartment syndrome Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. tmpte7i6ely_mondo_relaxed.owl anterior compartment syndrome ICD10:M76.81|MESH:D000868|NCIT:C118422|DOID:3933|EFO:1000808|SCTID:12694001|UMLS:C0003152 owl:Class MONDO:0021514 biolink:NamedThing benign neoplasm of pericardium A benign neoplasm that involves the pericardium. tmpte7i6ely_mondo_relaxed.owl benign tumor of the pericardium|benign neoplasm of the pericardium|benign pericardial tumor|pericardium benign neoplasm|benign pericardial neoplasm|benign tumor of pericardium SCTID:92289001|UMLS:C0685118|NCIT:C8536 owl:Class MONDO:0000629 biolink:NamedThing cardiovascular organ benign neoplasm A benign neoplasm that involves the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl cardiovascular system benign neoplasm DOID:0060091 owl:Class MONDO:0012456 biolink:NamedThing congenital primary aphakia Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents. tmpte7i6ely_mondo_relaxed.owl ASGD2|congenital absence of lens|aphakia, congenital primary|CPA|anterior segment dysgenesis 2|congenital aphakia OMIM:610256|DOID:11367|NCIT:C35172|MedDRA:10002947|MESH:C537786|GARD:0009952|ICD10:Q12.3|SCTID:35387008|ICD9:743.35|Orphanet:83461 owl:Class MONDO:0001176 biolink:NamedThing lens disorder A disease involving the lens of camera-type eye. tmpte7i6ely_mondo_relaxed.owl disorder of lens of camera-type eye|disease of lens of camera-type eye|lens disorder|lens of camera-type eye disease or disorder|disease or disorder of lens of camera-type eye|lens of camera-type eye disease NCIT:C26812|MESH:D007905|ICD9:379.39|DOID:110|ICD10:H27.9|SCTID:10810001|ICD10:H25-H28|UMLS:C0023308 Includes cataracts, lens subluxation and aphakia owl:Class UBERON:0002426 biolink:NamedThing chest muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003830 biolink:NamedThing thoracic segment muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051351 biolink:NamedThing positive regulation of ligase activity Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpte7i6ely_mondo_relaxed.owl up-regulation of ligase activity|activation of ligase activity|ligase activator|upregulation of ligase activity|stimulation of ligase activity|up regulation of ligase activity owl:Class GO:0051340 biolink:NamedThing regulation of ligase activity Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6. tmpte7i6ely_mondo_relaxed.owl ligase regulator owl:Class GO:1904730 biolink:NamedThing negative regulation of intestinal lipid absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption. tmpte7i6ely_mondo_relaxed.owl down-regulation of intestinal lipid absorption|down regulation of intestinal lipid absorption|downregulation of intestinal lipid absorption|inhibition of intestinal lipid absorption owl:Class MONDO:0021287 biolink:NamedThing carcinoma in situ of epiglottis A in situ carcinoma that involves the epiglottis. tmpte7i6ely_mondo_relaxed.owl stage 0 epiglottic carcinoma aJCC v8|stage 0 epiglottic carcinoma aJCC v6|epiglottis in situ carcinoma|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|epiglottic carcinoma in situ|stage 0 epiglottic throat cancer|epiglottis carcinoma in situ|Epiglottis carcinoma in situ|carcinoma in situ of the Epiglottis|stage 0 epiglottis carcinoma|stage 0 epiglottic carcinoma aJCC v7|stage 0 epiglottic carcinoma|carcinoma in situ of epiglottis SCTID:92584005|NCIT:C4592|UMLS:C0347103 owl:Class ECTO:0002002 biolink:NamedThing exposure to steroid An exposure to steroid. tmpte7i6ely_mondo_relaxed.owl exposure to steroid owl:Class MONDO:0009564 biolink:NamedThing Marden-Walker syndrome Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. tmpte7i6ely_mondo_relaxed.owl MWKS|Marden-Walker syndrome|MARDEN-WALKER syndrome|Mws|connective tissue disorder Marden Walker type ICD9:759.89|MESH:C535910|OMIM:248700|Orphanet:2461|SCTID:449824004|ICD10:Q87.0|GARD:0006973 owl:Class UBERON:0003585 biolink:NamedThing dermis connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016756 biolink:NamedThing inherited nervous system cancer-predisposing syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN202004|Orphanet:252190 owl:Class MONDO:0100037 biolink:NamedThing juvenile onset pityriasis rubra pilaris A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life. tmpte7i6ely_mondo_relaxed.owl juvenile onset PRP GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0100017 biolink:NamedThing pityriasis rubra pilaris A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). tmpte7i6ely_mondo_relaxed.owl GARD:0007401|NCIT:C85014|ICD9:696.4|DOID:9212|SCTID:3755001|UMLS:C0032027|ICD10:L44.0|MESH:D010916 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470|https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris owl:Class MONDO:0003830 biolink:NamedThing type 1 papillary adenoma of the kidney tmpte7i6ely_mondo_relaxed.owl type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney UMLS:C1519706|NCIT:C39809|DOID:6258 owl:Class MONDO:0003829 biolink:NamedThing chromophil adenoma of the kidney A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. tmpte7i6ely_mondo_relaxed.owl renal papillary adenoma|papillary adenoma of the kidney|chromophil adenoma of the kidney DOID:6257|UMLS:C1518879|NCIT:C3687 owl:Class MONDO:0001449 biolink:NamedThing lymphocytic choriomeningitis A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) tmpte7i6ely_mondo_relaxed.owl lymphocytic choriomeningitis virus encephalomyelitis|lymphocytic meningitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|LCM|lymphocytic meningoencephalitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis MESH:D008216|DOID:12155|ICD10:A87.2|ICD9:049.0|UMLS:C0024266 owl:Class MONDO:0004796 biolink:NamedThing infectious meningitis Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. tmpte7i6ely_mondo_relaxed.owl infectious meningitis|meningitis|infective meningitis HP:0001287|ICD9:321.8|ICD9:322.9|SCTID:7180009|ICD10:G03|ICD9:322|NCIT:C79598|MESH:D008581|DOID:9471|NCIT:C26828|EFO:0000584|ICD10:G03.9|SCTID:312216007 owl:Class MONDO:0030317 biolink:NamedThing cardiomyopathy, familial hypertrophic, 28 tmpte7i6ely_mondo_relaxed.owl CMH28|cardiomyopathy, familial hypertrophic, 28 OMIM:619402 owl:Class MONDO:0024548 biolink:NamedThing peeling skin syndrome 1 Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene. tmpte7i6ely_mondo_relaxed.owl keratolysis exfoliativa congenita|inflammatory peeling skin syndrome|peeling skin syndrome type B|PSS|PSS type B|PSS1|generalized deciduous skin type B|deciduous skin|generalized peeling skin syndrome type B|peeling skin syndrome 1|skin peeling, familial continuous generalized|peeling skin syndrome caused by mutation in CDSN|CDSN peeling skin syndrome UMLS:CN202306|Orphanet:263553|OMIM:270300|ICD10:Q80.8|Orphanet:263543|UMLS:C3891449 owl:Class MONDO:0043075 biolink:NamedThing neuroaxonal dystrophy renal tubular acidosis tmpte7i6ely_mondo_relaxed.owl CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr|Maccario Mena weir syndrome UMLS:C2931479|MESH:C537386|GARD:0000349 owl:Class MONDO:0012710 biolink:NamedThing hirschsprung disease, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 9|HSCR9 OMIM:611644|Orphanet:388 owl:Class MONDO:0018309 biolink:NamedThing Hirschsprung disease Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. tmpte7i6ely_mondo_relaxed.owl congenital intestinal aganglionosis|Hirschsprung disease susceptibility|pelvirectal achalasia|Hirschsprung's disease|aganglionic megacolon|congenital megacolon|HSCR|Hirschsprung disease|macrocolon OMIM:142623|UMLS:C3661523|SCTID:204739008|OMIM:613711|NCIT:C34700|OMIM:606875|ICD10:Q43.1|OMIMPS:142623|MedDRA:10010539|OMIM:600156|MESH:D006627|OMIM:613712|OMIM:606874|OMIM:611644|UMLS:C0019569|OMIM:608462|OMIM:600155|GARD:0006660|Orphanet:388|DOID:10487 owl:Class MONDO:0021056 biolink:NamedThing familial adenomatous polyposis 1 Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. tmpte7i6ely_mondo_relaxed.owl polyposis, adenomatous intestinal|attenuated familial adenomatous polyposis caused by mutation in APC|familial adenomatous polyposis, attenuated|FAP1|brain tumor-polyposis syndrome 2|adenomatous polyposis coli, attenuated|Gardner syndrome|familial adenomatous polyposis 1|familial polyposis of the colon|APC attenuated familial adenomatous polyposis|adenomatous polyposis of the colon Orphanet:733|Orphanet:79665|Orphanet:247806|UMLS:C2674616|UMLS:C0017097|Orphanet:220460|Orphanet:99818|OMIM:175100|DOID:0080409 owl:Class MONDO:0021055 biolink:NamedThing classic familial adenomatous polyposis Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. tmpte7i6ely_mondo_relaxed.owl familial adenomatous polyposis|familial adenomatous polyposis syndrome|colorectal adenomatous polyposis|hereditary adenomatous polyposis coli|familial multiple polyposis|adenomatous polyposis coli|familial polyposis|classic familial adenomatous polyposis|adenomatous polyposis of the colon|APC - adenomatous polyposis coli|familial polyposis coli|familial adenomatous polyposis of the colon|polyposis coli|hereditary polyposis coli|FAP|familial adenomatous polyposis coli|FPC|classic FAP OMIMPS:175100|SCTID:72900001|OMIM:175100|MedDRA:10056981|UMLS:C2713443|NCIT:C3339|DOID:0050424|ICD10:D12.6|UMLS:C0032580|Orphanet:733|OMIM:608456|GARD:0006408|ICDO:8220/0|UMLS:CN240755 owl:Class MONDO:0020161 biolink:NamedThing congenital ectropion tmpte7i6ely_mondo_relaxed.owl SCTID:26590002|ICD10:Q10.1|Orphanet:98570 owl:Class MONDO:0005893 biolink:NamedThing pancreatic endocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. tmpte7i6ely_mondo_relaxed.owl neuroendocrine carcinoma of pancreas|Pancreatic Neuroendocrine cancer|islet cell cancer|malignant neoplasm of islets of Langerhans|malignant pancreatic endocrine tumor|poorly-differentiated pancreatic neuroendocrine neoplasm|islet cell carcinoma (morphologic abnormality)|pancreatic NEC G3|pancreatic NEC|islet cell carcinoma|carcinoma, islet cell, malignant|pancreatic endocrine cancer|carcinoma of endocrine pancreas|high grade pancreatic neuroendocrine carcinoma|poorly differentiated pancreatic endocrine carcinoma|endocrine pancreas carcinoma|poorly-differentiated pancreatic NEN|poorly-differentiated neuroendocrine neoplasm of pancreas|pancreatic endocrine carcinoma|malignant islet cell tumor|poorly-differentiated NEN of pancreas|high-grade pancreatic neuroendocrine carcinoma|pancreatic neuroendocrine carcinoma NCIT:C3770|ICD10:C25.4|Orphanet:506098|UMLS:C1328479|ICD9:157.4|SCTID:254612002|EFO:0007416|ICDO:8150/3|DOID:1798|MESH:D018273 owl:Class MONDO:0005815 biolink:NamedThing pancreatic neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl PNEN|neuroendocrine neoplasm of pancreas|endocrine pancreas tumor|islet cell neoplasm|endocrine pancreas neoplasm (disease)|malignant tumor of endocrine pancreas|pancreatic endocrine neoplasm|endocrine pancreas neoplasm|tumor of endocrine pancreas|neoplasm of endocrine pancreas|endocrine pancreas cancer|Islet cell tumors|islet cell tumour|islet cell tumor|malignant pancreatic endocrine tumor|pancreatic neuroendocrine neoplasm|Islet of Langerhans tumor|pancreatic NEN NCIT:C27031|GARD:0007311|SCTID:254611009|EFO:0007331|ICD10:D13.7|DOID:1799|Orphanet:506052|ICD10:C25.4|ICDO:8150/1 Editor note: classified as carcinoma in EFO owl:Class MONDO:0008796 biolink:NamedThing aniridia-renal agenesis-psychomotor retardation syndrome Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. tmpte7i6ely_mondo_relaxed.owl aniridia renal agenesis psychomotor retardation|aniridia partial with unilateral renal agenesis and psychomotor retardation|Sommer Rathbun Battles syndrome|aniridia, partial, with unilateral renal agenesis and psychomotor retardation|Sommer-Rathbun-Battles syndrome OMIM:206750|ICD10:Q87.8|SCTID:733116005|UMLS:C1859782|GARD:0000690|Orphanet:1064|MESH:C000598722 owl:Class MONDO:0043786 biolink:NamedThing serositis Inflammation of a serous membrane. tmpte7i6ely_mondo_relaxed.owl Serositides|serositis|serous membrane inflammation|inflammation of serous membrane NCIT:C70428|MESH:D012700|SCTID:370469003 owl:Class GO:0051931 biolink:NamedThing regulation of sensory perception Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005346 biolink:NamedThing gallstones Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin. tmpte7i6ely_mondo_relaxed.owl SCTID:235919008|EFO:0004210|MESH:D042882|ICD9:574.20 owl:Class MONDO:0005281 biolink:NamedThing gallbladder disorder A disease involving the gall bladder. tmpte7i6ely_mondo_relaxed.owl disorder of gall bladder|gall bladder disease or disorder|gall bladder disease|gallbladder disorder|Gall bladder disorder|disease of gall bladder|disease or disorder of gall bladder ICD9:575.9|OMIMPS:600803|ICD10:K82|UMLS:C0016977|OMIM:609919|ICD9:575.8|EFO:0003832|MESH:D005705|NCIT:C34631|SCTID:39621005|OMIM:611465|DOID:0060262|ICD10:K82.9|OMIM:609918 owl:Class MONDO:0012792 biolink:NamedThing mitochondrial DNA depletion syndrome 8a Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene. tmpte7i6ely_mondo_relaxed.owl RRM2B mitochondrial DNA depletion syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome 8B (Mngie type)|mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|Mngie, Rrm2B-related|RRM2B-related mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|MTDPS8A|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|encephalomyopathic type with renal tubulopathy|mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|mitochondrial DNA depletion syndrome caused by mutation in RRM2B|mitochondrial DNA depletion syndrome type 8a Orphanet:255235|SCTID:765100000|ICD10:G31.8|DOID:0080127|Orphanet:254803|GARD:0013200|Orphanet:298|OMIM:612075 owl:Class GO:0006954 biolink:NamedThing inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpte7i6ely_mondo_relaxed.owl inflammation owl:Class GO:0006952 biolink:NamedThing defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. tmpte7i6ely_mondo_relaxed.owl defense/immunity protein activity|physiological defense response|defence response|antimicrobial peptide activity owl:Class MONDO:0002558 biolink:NamedThing melanotic neurilemmoma A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients. tmpte7i6ely_mondo_relaxed.owl melanocytic schwannoma|MSCHW|melanotic schwannoma|melanotic neurinoma|pigmented schwannoma|melanocytic neurilemmoma|melanotic schwannoma (morphologic abnormality)|pigmented neurilemmoma NCIT:C6970|UMLS:C1306247|ICD9:215.8|DOID:3205|SCTID:404024000|ONCOTREE:MSCHW owl:Class HGNC:5542 biolink:NamedThing IGHMBP2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001574 biolink:NamedThing Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025761 Abnormality of skin, hair, or nails. human_phenotype owl:Class MONDO:0010246 biolink:NamedThing developmental and epileptic encephalopathy, 9 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. tmpte7i6ely_mondo_relaxed.owl female restricted epilepsy with mental retardation|early infantile female-limited epilecptic encephalopathy|familial epilepsy and mental retardation limited to females|early infantile epileptic encephalopathy type 9|epileptic encephalopathy, early infantile, type 9|epilepsy, female-restricted, with mental retardation|Juberg Hellman syndrome|epilepsy, female restricted, with intellectual disability|EIEE9|early infantile epileptic encephalopathy caused by mutation in PCDH19|Juberg-Hellman syndrome|female restricted epilepsy with intellectual disability|early infantile epileptic encephalopathy 9|female restricted epilepsy with intellectual deficit|developmental and epileptic encephalopathy, 9|epileptic encephalopathy, early infantile, 9|DEE9|PCDH19-related infantile epileptic encephalopathy|EFMR|epilepsy and intellectual disability limited to females|PCDH19-related female-limited epilepsy|epilepsy, female-restricted, with intellectual disability|epilepsy, female restricted, with mental retardation|familial epilepsy and intellectual disability limited to females|PCDH19-related FLE|epilepsy and mental retardation limited to females|PCDH19 early infantile epileptic encephalopathy UMLS:C1848137|Orphanet:101039|OMIM:300088|DOID:0060848|GARD:0010806|MESH:C564715 owl:Class MONDO:0016160 biolink:NamedThing X-linked intellectual disability-epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:300607|UMLS:CN226857|Orphanet:2076|OMIM:300088|OMIM:300423 owl:Class GO:0051650 biolink:NamedThing establishment of vesicle localization The directed movement of a vesicle to a specific location. tmpte7i6ely_mondo_relaxed.owl establishment of vesicle localisation owl:Class HP:0007957 biolink:NamedThing Corneal opacity A reduction of corneal clarity. tmpte7i6ely_mondo_relaxed.owl Scarring or clouding of the cornea of the eye|Corneal clouding|Reduction of corneal clarity|Corneal opacities SNOMEDCT_US:95735008|UMLS:C0010038|UMLS:C0521719|SNOMEDCT_US:413921009|MSH:D003318|SNOMEDCT_US:64634000 HP:0007883|HP:0008502|HP:0007844 human_phenotype owl:Class HP:0000481 biolink:NamedThing Abnormal cornea morphology Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cornea|Cornela disease|Corneal abnormalities|Corneal abnormality UMLS:C4020889|UMLS:C1855670 HP:0007972|HP:0007771 human_phenotype owl:Class MONDO:0009511 biolink:NamedThing Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. tmpte7i6ely_mondo_relaxed.owl Larsen syndrome, autosomal recessive|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects|Larsen syndrome, autosomal recessive, formerly|multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|JDSCD|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects MESH:C537874|DOID:0080575|Orphanet:284139|OMIM:245600|ICD10:Q74.8 owl:Class MONDO:0018292 biolink:NamedThing congenital disorder of glycosylation-related bone disorder tmpte7i6ely_mondo_relaxed.owl CDG-related bone disorder ICD10:E77.8|Orphanet:371195 owl:Class MONDO:0015773 biolink:NamedThing fibular dimelia-diplopodia syndrome Fibular dimelia-diplopodia syndrome is a rare developmental anomaly. tmpte7i6ely_mondo_relaxed.owl leg duplication-mirror foot syndrome UMLS:CN200350|Orphanet:1757|SCTID:720953006|ICD10:Q74.8 owl:Class MONDO:0009011 biolink:NamedThing constriction rings syndrome Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. tmpte7i6ely_mondo_relaxed.owl constriction band syndrome|amniotic band sequence|Streeter anomaly|congenital ring constrictions|Streeter dysplasia|amputation, congenital|CONSTRICTING bands, congenital|Adam Complex|terminal transverse defects of arm OMIM:217100|ICD10:Q79.8|Orphanet:295000|Orphanet:93937|UMLS:C1857578 owl:Class MONDO:0015167 biolink:NamedThing amniotic band syndrome Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. tmpte7i6ely_mondo_relaxed.owl amniotic bands|amniotic deformity-adhesion-mutilation syndrome|deformity due to amniotic band|familial amniotic bands|amniotic bands sequence|congenital constricting bands|Adam syndrome|amniotic band constriction ICD10:Q79.8|MESH:D000652|Orphanet:1034|NCIT:C84552|GARD:0000429|SCTID:440214006 owl:Class MONDO:0032717 biolink:NamedThing amelogenesis imperfecta, type 3c tmpte7i6ely_mondo_relaxed.owl Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive|AI3C|AMELOGENESIS IMPERFECTA, TYPE IIIC OMIM:618386|DOID:0111722 owl:Class MONDO:0018343 biolink:NamedThing periodic paralysis with later-onset distal motor neuropathy tmpte7i6ely_mondo_relaxed.owl ICD10:G72.3|Orphanet:397750 owl:Class UBERON:0004492 biolink:NamedThing cardiac muscle tissue of cardiac septum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042636 biolink:NamedThing negative regulation of hair cycle Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpte7i6ely_mondo_relaxed.owl down regulation of hair cycle|inhibition of hair cycle|downregulation of hair cycle|down-regulation of hair cycle owl:Class UBERON:0015142 biolink:NamedThing falciform fat tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003916 biolink:NamedThing fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002003 biolink:NamedThing papilledema Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. tmpte7i6ely_mondo_relaxed.owl Choked disk|papilloedema|edema of the optic disc ICD9:377.00|ICD9:377.0|GARD:0007318|SCTID:423341008|ICD10:H47.10|ICD10:H47.1|DOID:146|NCIT:C3307|ICD10:H46.0|ICD9:377.31 https://rarediseases.info.nih.gov/diseases/7318/papilledema owl:Class MONDO:0002135 biolink:NamedThing optic nerve disorder A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). tmpte7i6ely_mondo_relaxed.owl disorder of cranial nerve II|optic neuropathy|second cranial nerve disorder|disease or disorder of cranial nerve II|optic nerve disorder|cranial nerve II disease|disease of cranial nerve II|disorder of the second nerve|cranial nerve II disease or disorder MESH:D009901|ICD9:377.49|UMLS:C0029132|NCIT:C79698|SCTID:77157004|ICD9:377.9|DOID:1891 owl:Class UBERON:0004245 biolink:NamedThing oviduct smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030012 biolink:NamedThing Abnormal female reproductive system physiology tmpte7i6ely_mondo_relaxed.owl Abnormal female reproductive system physiology|Abnormal female genital system physiology UMLS:C4020714|UMLS:C4022678 human_phenotype owl:Class HP:0000080 biolink:NamedThing Abnormality of reproductive system physiology An abnormal functionality of the genital system. tmpte7i6ely_mondo_relaxed.owl Abnormality of reproductive system physiology|Genital functional abnormality|Abnormality of genital physiology UMLS:C4020896|UMLS:C4021820 human_phenotype owl:Class GO:1904675 biolink:NamedThing regulation of somatic stem cell division Any process that modulates the frequency, rate or extent of somatic stem cell division. tmpte7i6ely_mondo_relaxed.owl regulation of somatic stem cell renewal owl:Class GO:0002582 biolink:NamedThing positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpte7i6ely_mondo_relaxed.owl up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II owl:Class GO:0002579 biolink:NamedThing positive regulation of antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. tmpte7i6ely_mondo_relaxed.owl up regulation of antigen processing and presentation|stimulation of antigen processing and presentation|up-regulation of antigen processing and presentation|activation of antigen processing and presentation|upregulation of antigen processing and presentation owl:Class UBERON:0022279 biolink:NamedThing strand of hair on external ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016446 biolink:NamedThing hair of head tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002360 biolink:NamedThing meninx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003567 biolink:NamedThing bilateral hypoactive labyrinth tmpte7i6ely_mondo_relaxed.owl hypoactive bilateral labyrinthine dysfunction|hypoactive labyrinth, bilateral DOID:565|SCTID:194375009|ICD9:386.54|UMLS:C0155518 owl:Class MONDO:0011255 biolink:NamedThing mandibulofacial dysostosis-macroblepharon-macrostomia syndrome tmpte7i6ely_mondo_relaxed.owl macroblepharon-ectropion-hypertelorism-macrostomia syndrome|mandibulofacial dysostosis with macroblepharon and macrostomia|macroblepharon, ectropion, hypertelorism, and macrostomia|Verloes-Lesenfants syndrome Orphanet:357158|ICD10:Q87.0|MESH:C566520|UMLS:C1865181|OMIM:602562 owl:Class MONDO:0019803 biolink:NamedThing angioma serpiginosum Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. tmpte7i6ely_mondo_relaxed.owl angioma serpiginosum of skin NCIT:C3926|DOID:4028|OMIM:106050|ICD10:L81.7|OMIM:300652|Orphanet:95429|UMLS:CN206759|SCTID:49465005|MESH:C536366 owl:Class UBERON:0003507 biolink:NamedThing arm blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003515 biolink:NamedThing forelimb blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022557 biolink:NamedThing behrens baumann dust syndrome tmpte7i6ely_mondo_relaxed.owl oculo-cerebral dysplasia MESH:C537670 owl:Class MONDO:0016218 biolink:NamedThing Guillain-Barre syndrome A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. tmpte7i6ely_mondo_relaxed.owl acute immune-mediated polyneuropathy|post-infective polyneuritis|Landry's ascending paralysis|acute inflammatory neuropathy|acute inflammatory demyelinating polyneuropathy|Guillain Barre syndrome|Landry-Guillain-Barre-Strohl syndrome|Guillain-Barré syndrome|postinfectious polyneuritis|GBS|acute autoimmune peripheral neuropathy|Guillain-Barre-Strohl syndrome|post-infectious polyneuritis|Guillain Barré syndrome|Guillain-Barré-Strohl syndrome|acute postinfectious polyneuropathy MedDRA:10018767|ICD10:G61.0|GARD:0006554|Orphanet:2103|SCTID:40956001|NCIT:C116345|EFO:0007292|UMLS:C0018378|DOID:12842|MESH:D020275 owl:Class MONDO:0025556 biolink:NamedThing isocyanate induced asthma tmpte7i6ely_mondo_relaxed.owl isocyanates allergic asthma UMLS:C1321273|SCTID:404808000|DOID:0040041|ICD9:506.3 owl:Class MONDO:0004784 biolink:NamedThing allergic asthma A asthma with a basis in a pathological type I hypersensitivity reaction. tmpte7i6ely_mondo_relaxed.owl allergic form of asthma|atopic asthma|extrinsic asthma with status asthmaticus|extrinsic asthma with acute exacerbation ICD9:493.0|ICD10:J45|DOID:9415|UMLS:C0155877|SCTID:389145006 owl:Class UBERON:0005427 biolink:NamedThing corneal primordium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051969 biolink:NamedThing regulation of transmission of nerve impulse Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpte7i6ely_mondo_relaxed.owl regulation of conduction of nerve impulse owl:Class GO:0031644 biolink:NamedThing regulation of nervous system process Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. tmpte7i6ely_mondo_relaxed.owl regulation of neurological system process|regulation of neurophysiological process|regulation of neurological process owl:Class MONDO:0009111 biolink:NamedThing dihydropyrimidinuria Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. tmpte7i6ely_mondo_relaxed.owl dihydropyrimidinase deficiency|Dph deficiency|dihydropyrimidinuria|DPYSD|Dpys deficiency Orphanet:38874|DOID:0111629|ICD9:277.2|ICD10:E79.8|OMIM:222748|SCTID:238014002|GARD:0012347 owl:Class MONDO:0019238 biolink:NamedThing inborn disorder of pyrimidine metabolism ANPM tmpte7i6ely_mondo_relaxed.owl disorder of pyrimidine metabolism|pyrimidine metabolic disorder|rare inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|inborn error of pyrimidine nucleobase metabolic process Orphanet:79193|MedDRA:10070969|DOID:0050832 owl:Class CHEBI:35274 biolink:NamedThing ammonium ion derivative A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc). tmpte7i6ely_mondo_relaxed.owl azanium ion derivatives|ammonium ion derivatives|azanium ion derivative owl:Class NCBITaxon:11146 biolink:NamedThing Porcine respiratory coronavirus tmpte7i6ely_mondo_relaxed.owl porcine respiratory virus|porcine respiratory coronavirus PRCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11149 biolink:NamedThing Transmissible gastroenteritis virus tmpte7i6ely_mondo_relaxed.owl Porcine transmissable gastroenteritis coronavirus|Porcine transmissible gastroenteritis coronavirus|transmissible gastroenteritis virus TGEV|transmissible gastroenteritis coronavirus|TGEV|porcine transmissible gastroenteritis virus GC_ID:1 NCBITaxon:12859 ncbi_taxonomy owl:Class UBERON:0015481 biolink:NamedThing left hepatic artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001193 biolink:NamedThing hepatic artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004984 biolink:NamedThing mucosa of seminal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045052 biolink:NamedThing benign osteogenic neoplasm A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma. tmpte7i6ely_mondo_relaxed.owl benign osseous tumor|benign osteogenic neoplasm|osteogenic neoplasm, benign|benign osteogenic tumor|benign osseous neoplasm NCIT:C6602 owl:Class MONDO:0013281 biolink:NamedThing COG4-CDG COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type 2j|congenital disorder of glycosylation, type IIj|COG4-CDG|CDG-IIj|congenital disorder of glycosylation type IIj|COG4-CDG (CDG-IIj)|CDG2J|CDG syndrome type IIj|carbohydrate deficient glycoprotein syndrome type IIj|CDG IIj OMIM:613489|GARD:0012412|ICD10:E77.8|UMLS:C3150736|DOID:0070262|Orphanet:263501|SCTID:718751000 owl:Class PATO:0001475 biolink:NamedThing increased position A position which is relatively high. tmpte7i6ely_mondo_relaxed.owl high position owl:Class PATO:0002305 biolink:NamedThing increased object quality A quality of an object that has a value that is increased compared to normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003382 biolink:NamedThing cardiac muscle of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018649 biolink:NamedThing cardiac muscle tissue of ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014511 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2S Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene. tmpte7i6ely_mondo_relaxed.owl CMT2S|Charcot-Marie-Tooth neuropathy type 2S|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|autosomal recessive axonal Charcot-Marie-Tooth type 2S|Charcot-Marie-Tooth disease type 2S|IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, type 2S Orphanet:443073|DOID:0110171|OMIM:616155|UMLS:C4015349|ICD10:G60.0 owl:Class MONDO:0012683 biolink:NamedThing pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis. tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia, type 6|pontocerebellar hypoplasia type 6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|PCH6|non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2|encephalopathy fatal infantile with mitochondrial respiratory chain defects|RARS2 non-syndromic pontocerebellar hypoplasia|fatal infantile encephalopathy with mitochondrial respiratory chain defects OMIM:611523|ICD10:Q04.3|SCTID:718606005|GARD:0010710|Orphanet:166073|UMLS:C1969084|MESH:C548074|DOID:0060275 https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6 owl:Class UBERON:0018113 biolink:NamedThing left kidney interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033089 biolink:NamedThing positive regulation of T cell differentiation in thymus Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. tmpte7i6ely_mondo_relaxed.owl positive regulation of thymic T cell differentiation|positive regulation of thymocyte cell differentiation|positive regulation of thymocyte differentiation|positive regulation of T cell development in thymus owl:Class UBERON:0011968 biolink:NamedThing radio-carpal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017489 biolink:NamedThing ulnar hemimelia, unilateral tmpte7i6ely_mondo_relaxed.owl ulnar longitudinal meromelia, unilateral ICD10:Q71.5|Orphanet:295075 owl:Class MONDO:0019670 biolink:NamedThing ulnar hemimelia Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone. tmpte7i6ely_mondo_relaxed.owl congenital longitudinal deficiency of the ulna|ulnar clubhand|ulnar longitudinal meromelia ICD9:755.59|SCTID:21893008|Orphanet:93320|ICD10:Q71.5 owl:Class NCBITaxon:2720871 biolink:NamedThing Aspergillus subgen. Circumdati tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:28082760 ncbi_taxonomy owl:Class NCBITaxon:5052 biolink:NamedThing Aspergillus tmpte7i6ely_mondo_relaxed.owl Petromyces|Chaetosartorya|Phialosimplex|Polypaecilum GC_ID:1|PMID:28082760|PMID:20141373 NCBITaxon:36634|NCBITaxon:37503|NCBITaxon:36632|NCBITaxon:1131475|NCBITaxon:743109 ncbi_taxonomy owl:Class MONDO:0024637 biolink:NamedThing malignant soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. tmpte7i6ely_mondo_relaxed.owl malignant tumor of soft tissue|malignant tumor of the soft tissue|malignant soft tissue tumor|malignant neoplasm of the soft tissue|malignant neoplasm of soft tissue|malignant soft tissue neoplasm NCIT:C4867|SCTID:269469005 owl:Class MONDO:0010608 biolink:NamedThing Hhhh syndrome tmpte7i6ely_mondo_relaxed.owl Hhhh syndrome|hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome MESH:C564411|UMLS:C1844019|OMIM:306960 owl:Class MONDO:0010323 biolink:NamedThing Atkin-Flaitz syndrome Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl Atkin syndrome|X-linked intellectual disability, Atkin type|Atkin-Flaitz syndrome ICD10:Q87.8|SCTID:718577005|Orphanet:1193|OMIM:300431|GARD:0003537 owl:Class MONDO:0004466 biolink:NamedThing neuronitis tmpte7i6ely_mondo_relaxed.owl neuroinflammation NCIT:C34847|UMLS:C0027881|DOID:8117 Editor note: check this owl:Class MONDO:0002744 biolink:NamedThing fallopian tube mucinous adenocarcinoma An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. tmpte7i6ely_mondo_relaxed.owl fallopian tube mucinous adenocarcinoma UMLS:C1517119|NCIT:C40103|DOID:3704 owl:Class MONDO:0002745 biolink:NamedThing fallopian tube mucinous tumor A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl fallopian tube mucinous tumor|fallopian tube mucinous neoplasm DOID:3705|NCIT:C40109|UMLS:C1517120 owl:Class UBERON:0004133 biolink:NamedThing salivatory nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001339 biolink:NamedThing Lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. tmpte7i6ely_mondo_relaxed.owl Fewer or absent grooves in brain SNOMEDCT_US:204036008|UMLS:C0266463|UMLS:C1879312|MSH:D054082 Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. HP:0002537 human_phenotype owl:Class MONDO:0001657 biolink:NamedThing brain cancer A primary or metastatic malignant neoplasm affecting the brain. tmpte7i6ely_mondo_relaxed.owl malignant tumor of brain|BT - brain tumour|primary malignant neoplasm of brain|malignant brain tumour|malignant primary brain neoplasm|brain cancer|adult brain tumor|malignant tumor of adult brain|primary brain tumor|malignant tumor of the brain|primary brain neoplasm|malignant primary brain tumor|cancer of brain|malignant brain neoplasm|brain neoplasm, adult|brain neoplasm|brain neoplasms, malignant|malignant brain tumor|tumor of the brain|cancer of the brain|adult malignant brain neoplasm|malignant neoplasm of the brain|malignant neoplasm of brain|brain tumor, adult|neoplasm of unspecified nature of brain GARD:0009307|SCTID:428061005|MESH:D001932|ICD9:191.9|ICD10:C71|NCIT:C3568|ICD9:191.8|ICD9:191|NCIT:C4952|ICD10:C71.9|NCIT:C2907|CSP:2006-2736|DOID:1319|ICD9:239.6 owl:Class GO:2001235 biolink:NamedThing positive regulation of apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. tmpte7i6ely_mondo_relaxed.owl positive regulation of apoptotic signalling pathway owl:Class GO:2001233 biolink:NamedThing regulation of apoptotic signaling pathway Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. tmpte7i6ely_mondo_relaxed.owl regulation of apoptotic signalling pathway owl:Class MONDO:0001635 biolink:NamedThing bladder squamous papilloma A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium. tmpte7i6ely_mondo_relaxed.owl bladder squamous papilloma DOID:13110|NCIT:C39834|UMLS:C1511199 owl:Class MONDO:0000384 biolink:NamedThing bladder benign neoplasm A benign abnormal growth of the cells that comprise the bladder. tmpte7i6ely_mondo_relaxed.owl benign urinary bladder tumor|benign tumor of bladder|benign neoplasm of bladder|benign tumor of the bladder|urinary bladder benign neoplasm|benign neoplasm of the urinary bladder|benign tumor of the urinary bladder|benign urinary bladder neoplasm|benign bladder neoplasm|benign neoplasm of urinary bladder|benign tumor of urinary bladder|benign bladder tumor|benign neoplasm of the bladder UMLS:C0154017|SCTID:91992005|DOID:0050623|ICD9:223.3|NCIT:C3618 owl:Class GO:1902931 biolink:NamedThing negative regulation of alcohol biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl downregulation of alcohol formation|down-regulation of alcohol formation|inhibition of alcohol biosynthesis|down-regulation of alcohol anabolism|negative regulation of alcohol synthesis|downregulation of alcohol biosynthesis|downregulation of alcohol biosynthetic process|down regulation of alcohol formation|negative regulation of alcohol biosynthesis|negative regulation of alcohol formation|inhibition of alcohol biosynthetic process|inhibition of alcohol formation|down regulation of alcohol anabolism|negative regulation of alcohol anabolism|down-regulation of alcohol biosynthesis|inhibition of alcohol anabolism|down regulation of alcohol biosynthetic process|negative regulation of solventogenesis|downregulation of alcohol synthesis|inhibition of alcohol synthesis|downregulation of alcohol anabolism|down-regulation of alcohol biosynthetic process|down regulation of alcohol synthesis|down regulation of alcohol biosynthesis|down-regulation of alcohol synthesis owl:Class GO:0062014 biolink:NamedThing negative regulation of small molecule metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of small molecule metabolism owl:Class CHEBI:16827 biolink:NamedThing corticosterone A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands. tmpte7i6ely_mondo_relaxed.owl 11beta,21-dihydroxypregn-4-ene-3,20-dione|corticosterone|Kendall's compound B|11beta,21-Dihydroxy-4-pregnene-3,20-dione|(11beta)-11,21-dihydroxypregn-4-ene-3,20-dione|CORTICOSTERONE|Reichstein's substance H|11beta,21-dihydroxyprogesterone|17-deoxycortisol|Corticosterone owl:Class UBERON:0010544 biolink:NamedThing metacarpus skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010546 biolink:NamedThing metapodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002195 biolink:NamedThing vulvar squamous neoplasm A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm|vulvar squamous tumor NCIT:C40283|DOID:2072|UMLS:C1520097 owl:Class MONDO:0015531 biolink:NamedThing non-Langerhans cell histiocytosis Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). tmpte7i6ely_mondo_relaxed.owl histiocytosis, non-Langerhans-cell|non-Langerhans-cell histiocytosis UMLS:C0019624|DOID:4330|Orphanet:157987|MESH:D015616|SCTID:127069007|ICD9:288.4|ICD10:D76.3|GARD:0008231 owl:Class MONDO:0001531 biolink:NamedThing blood coagulation disease A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. tmpte7i6ely_mondo_relaxed.owl coagulation disorder, blood|coagulation defect|disorder, blood coagulation|coagulation disorders, blood|coagulation disorder|postpartum coagulation defect|blood coagulation disorder|postpartum coagulation defect with delivery|coagulopathy|disorders, blood coagulation SCTID:64779008|ICD9:286|MESH:D001778|NCIT:C2902|ICD9:286.9|ICD10:D68.9|DOID:1247|ICD9:287.8 owl:Class MONDO:0006230 biolink:NamedThing gastric squamous cell carcinoma A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body. tmpte7i6ely_mondo_relaxed.owl stomach squamous cell carcinoma|gastric (stomach) squamous cell cancer|gastric squamous cell carcinoma|squamous cell carcinoma of stomach|squamous cell carcinoma of the stomach NCIT:C5475|UMLS:CN237470|ICD10:C16.0|Orphanet:418959|UMLS:C1333789|ICD10:C16.1|ICD10:C16.2|ICD10:C16.4|EFO:1000278|ICD10:C16.8|ICD10:C16.5|SCTID:766980008|ICD10:C16.3|DOID:5516 owl:Class MONDO:0012387 biolink:NamedThing osteosclerosis-ichthyosis-premature ovarian failure syndrome This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. tmpte7i6ely_mondo_relaxed.owl sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure|osteosclerosis with ichthyosis and POF|osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993|SCTID:722114007|Orphanet:75325|GARD:0009904|MESH:C536064 owl:Class MONDO:0021187 biolink:NamedThing hyperlipidemia tmpte7i6ely_mondo_relaxed.owl lipemias|lipemia|hyperlipemias|lipidemia|lipidemias|hyperlipemia|hyperlipidemia|hyperlipidemia (disease) hyperlipidemia (disease) MESH:D006949|ICD10:E78.5|ICD9:272.4|HP:0003077|UMLS:CN236649|SCTID:55822004|EFO:0003774|UMLS:C0020473 owl:Class CL:1001598 biolink:NamedThing small intestine glandular cell A glandular cell found in the epithelium of the small intestine. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Somatostatin-secreting Cells (D-cells) . tmpte7i6ely_mondo_relaxed.owl small intestinal glandular cell|small bowel glandular cell|small intestine glandular cells CALOHA:TS-1286|FMA:86928 owl:Class CL:0000150 biolink:NamedThing glandular epithelial cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. tmpte7i6ely_mondo_relaxed.owl FMA:86494|CALOHA:TS-2085 cell owl:Class MONDO:0032667 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5|EV5 OMIM:618309 owl:Class MONDO:0009176 biolink:NamedThing epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. tmpte7i6ely_mondo_relaxed.owl Lewandowsky-Lutz syndrome|Lutz-Lewandowsky epidermodysplasia verruciformis|EV|Lewandowsky-Lutz dysplasia|ever|epidermodysplasia verruciformis ICD10:B07|MedDRA:10052339|OMIMPS:226400|GARD:0006357|SCTID:19138001|OMIM:305350|DOID:13777|MESH:D004819|ICD9:757.8|ICD9:078.19|Orphanet:302|UMLS:C0014522|OMIM:226400|NCIT:C126877 https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis owl:Class MONDO:0007871 biolink:NamedThing familial congenital nasolacrimal duct obstruction tmpte7i6ely_mondo_relaxed.owl lacrimal duct defect|lacrimal puncta, absence of|nasolacrimal duct obstruction|LCDD Orphanet:141083|MESH:C566703|Orphanet:451612|OMIM:149700|ICD10:Q10.5 owl:Class MONDO:0020195 biolink:NamedThing excretory apparatus of the lacrimal system anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98605 owl:Class UBERON:0005124 biolink:NamedThing metanephric proximal convoluted tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001287 biolink:NamedThing proximal convoluted tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002359 biolink:NamedThing fibrous pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005181 biolink:NamedThing thoracic segment organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008355 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 1 tmpte7i6ely_mondo_relaxed.owl pyloric stenosis, infantile|pyloric stenosis, infantile hypertrophic, 1|IHPS1|pyloric stenosis, infantile hypertrophic UMLS:C1867403|OMIM:179010 owl:Class MONDO:0100239 biolink:NamedThing inherited hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is inherited. tmpte7i6ely_mondo_relaxed.owl hereditary hypertrophic pyloric stenosis OMIM:612017|OMIM:179010|OMIM:300711|OMIM:610260|OMIM:612525|OMIMPS:179010 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001290 biolink:NamedThing allergic cutaneous vasculitis Inflammation of the small vessels of the skin that is mediated by the immune system. tmpte7i6ely_mondo_relaxed.owl autoimmune hypersensitivity angiitis|allergic cutaneous angiitis NCIT:C35119|DOID:11450 owl:Class MONDO:0004965 biolink:NamedThing acinar cell carcinoma A carcinoma that arises from epithelial cells of the acinar cell tmpte7i6ely_mondo_relaxed.owl ACCC|acinar cell adenocarcinoma|carcinoma, acinar cell, malignant|acinar cell carcinoma|carcinoma of acinar cell|acinar adenocarcinoma|acinar carcinoma|acinic cell tumor|acinar cell carcinoma (morphologic abnormality)|acinic cell carcinoma|acinic cell adenocarcinoma ICDO:8550/3|GARD:0008568|UMLS:C0206685|DOID:3025|EFO:0000216|ONCOTREE:ACCC|MESH:D018267|NCIT:C3768 owl:Class MONDO:0030935 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 2 tmpte7i6ely_mondo_relaxed.owl mitochondrial complex 2 deficiency, nuclear type 2|MC2DN2 OMIM:619166 owl:Class FOODON:00001092 biolink:NamedThing vertebrate animal food product A food product which is derived from or produced by an animal that has a vertibrae. tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class FOODON:00002381 biolink:NamedThing food product by organism A food product consisting of food material derived primarily from a single organism. tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0011951 biolink:NamedThing amyotrophic lateral sclerosis type 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in FUS|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia|FUS amyotrophic lateral sclerosis|autosomal recessive amyotrophic lateral sclerosis 6|ALS6|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030|DOID:0060198|MESH:C567699|Orphanet:803|GARD:0009874|Orphanet:275872 https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6 owl:Class MONDO:0017161 biolink:NamedThing frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. tmpte7i6ely_mondo_relaxed.owl FTDALS|frontotemporal dementia with amyotrophic lateral sclerosis|frontotemporal dementia with ALS|FTD-ALS|FTD-MND UMLS:C3888102|OMIMPS:105550|OMIM:615911|Orphanet:275872|UMLS:CN239493|OMIM:612069|OMIM:616437|OMIM:616439|OMIM:608030|OMIM:105550|OMIM:613954 owl:Class UBERON:0005276 biolink:NamedThing dorsal skin of finger tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003533 biolink:NamedThing manual digit skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002000 biolink:NamedThing anaerobic meningitis tmpte7i6ely_mondo_relaxed.owl meningitis due to anaerobic bacteria|meningitis caused by anaerobic bacteria SCTID:445059005|ICD9:320.81|DOID:14559|UMLS:C0854214 owl:Class MONDO:0024389 biolink:NamedThing anaerobic bacteria infectious disease tmpte7i6ely_mondo_relaxed.owl infection caused by anaerobic bacteria|infection due to anaerobic bacteria|anaerobic bacterial infection UMLS:C0854328|SCTID:423451008|ICD9:041.84 Editor note: DP owl:Class GO:0006119 biolink:NamedThing oxidative phosphorylation The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpte7i6ely_mondo_relaxed.owl respiratory-chain phosphorylation owl:Class UBERON:0008784 biolink:NamedThing lower limb segment tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002529 biolink:NamedThing limb segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015818 biolink:NamedThing aggressive primary cutaneous B-cell lymphoma tmpte7i6ely_mondo_relaxed.owl Orphanet:178554 owl:Class MONDO:0015820 biolink:NamedThing primary cutaneous B-cell lymphoma tmpte7i6ely_mondo_relaxed.owl UMLS:C1274310|ICD9:202.80|Orphanet:178563|SCTID:402881008 owl:Class UBERON:0010417 biolink:NamedThing lymph node T cell domain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000254 biolink:NamedThing cutaneous mycosis A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis. tmpte7i6ely_mondo_relaxed.owl SCTID:14560005|DOID:0050134 owl:Class NCBITaxon:1897064 biolink:NamedThing Cryptococcus neoformans species complex tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5206 biolink:NamedThing Cryptococcus tmpte7i6ely_mondo_relaxed.owl Cryptococcus|Filobasidiella GC_ID:1 NCBITaxon:192653|NCBITaxon:5415|NCBITaxon:107441 ncbi_taxonomy owl:Class MONDO:0015196 biolink:NamedThing vein of Galen aneurysm Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization. tmpte7i6ely_mondo_relaxed.owl Galen vein aneurysm|ectasia or varix of the vein of Galen|vein of Galen aneurysm malformation|vein of Galen arteriovenous malformations|Galenic arteriovenous malformation|VGAM MESH:C536535|GARD:0005467|SCTID:253194008|UMLS:C0431420|Orphanet:1053|ICD10:Q28.2 https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm owl:Class MONDO:0015145 biolink:NamedThing neurovascular malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:102006 owl:Class UBERON:0004223 biolink:NamedThing vagina smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001256 biolink:NamedThing dairy food product A dairy food product has mammilian milk or a milk component as an ingredient. tmpte7i6ely_mondo_relaxed.owl milk product|dairy product http://www.langual.org/langual_thesaurus.asp?termid=H0242 Damion Dooley owl:Class GO:0060341 biolink:NamedThing regulation of cellular localization Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell. tmpte7i6ely_mondo_relaxed.owl regulation of cellular localisation owl:Class MONDO:0006161 biolink:NamedThing colorectal juvenile polyp A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpte7i6ely_mondo_relaxed.owl colorectal retention polyp|large bowel juvenile polyp|juvenile polyp of large bowel|large intestinal juvenile polyp|juvenile polyp of the large bowel NCIT:C5681|EFO:1000194 owl:Class MONDO:0006160 biolink:NamedThing colorectal hamartoma A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp. tmpte7i6ely_mondo_relaxed.owl large intestinal hamartoma|colorectal hamartoma|colorectum hamartoma (disease) EFO:1000193|NCIT:C96474|UMLS:C3272801 owl:Class GO:0010700 biolink:NamedThing negative regulation of norepinephrine secretion Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014061 biolink:NamedThing regulation of norepinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of norepinephrine. tmpte7i6ely_mondo_relaxed.owl regulation of noradrenaline secretion owl:Class MONDO:0006265 biolink:NamedThing laryngeal small cell carcinoma A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl larynx small cell carcinoma|laryngeal throat small cell cancer|small cell carcinoma of the larynx|small cell carcinoma of larynx|laryngeal small cell carcinoma DOID:7144|NCIT:C6025|UMLS:C1334378|EFO:1000320 owl:Class MONDO:0017596 biolink:NamedThing diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. tmpte7i6ely_mondo_relaxed.owl DLBCL of the CNS|primary DLBCL of the CNS|diffuse large B-cell lymphoma of central nervous system|CNS DLBCL|primary diffuse large B-cell lymphoma of the central nervous system|central nervous system diffuse large B-cell lymphoma ICD10:C83.3|Orphanet:300849|SCTID:734066005|NCIT:C71720|UMLS:C2026186|ICDO:9680/3 owl:Class HGNC:16353 biolink:NamedThing MAGED2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CP_0000043 biolink:NamedThing cartwheel heterochromatin Heterochromatin that is arranged in a carthwheel pattern. tmpte7i6ely_mondo_relaxed.owl tmeehan 2009-12-28T04:28:35Z cell owl:Class GO:0000792 biolink:NamedThing heterochromatin A compact and highly condensed form of chromatin. tmpte7i6ely_mondo_relaxed.owl nuclear heterochromatin owl:Class MONDO:0009395 biolink:NamedThing hyperostosis corticalis generalisata Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. tmpte7i6ely_mondo_relaxed.owl SOST-related sclerosing bone dysplasia|hyperostosis corticalis generalisata|van Buchem disease type 1|van Buchem disease|Van Buchem disease|endosteal hyperostosis, autosomal recessive|endosteal hyperostosis autosomal recessive|VAN Buchem disease|VBCH|hyperphosphatasemia tarda|endosteal hyperostosis Orphanet:3416|OMIM:239100|GARD:0002833|DOID:0080036|OMIM:607636|NCIT:C131812|SCTID:59763006|ICD10:M85.2 owl:Class ENVO:00002005 biolink:NamedThing air The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000797 biolink:NamedThing gaseous environmental material A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely. tmpte7i6ely_mondo_relaxed.owl gas owl:Class MONDO:0002336 biolink:NamedThing inflammatory and toxic neuropathy tmpte7i6ely_mondo_relaxed.owl ICD9:357.8|ICD9:357.7|SCTID:267601009|ICD9:357.9|DOID:2537|ICD9:357 Editor note: consider obsoleting owl:Class MONDO:0005244 biolink:NamedThing peripheral neuropathy A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. tmpte7i6ely_mondo_relaxed.owl peripheral nerve disorder|peripheral neuropathy|neuropathy SCTID:42658009|EFO:0003100|MedDRA:10034606|UMLS:C0442874|NCIT:C4731|NCIT:C119734|EFO:0004149|SCTID:386033004|DOID:870|ICD10:G62.9 Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class MONDO:0006681 biolink:NamedThing Borrelia infectious disease Infections with bacteria of the genus borrelia. tmpte7i6ely_mondo_relaxed.owl Borrelia caused disease or disorder|Borrelia disease or disorder UMLS:C0006035|MESH:D001899|MedDRA:10061591|EFO:1000842 owl:Class MONDO:0000727 biolink:NamedThing scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. tmpte7i6ely_mondo_relaxed.owl myopathy, scapuloperoneal|scapuloperoneal syndrome, myopathic type MESH:C536624|OMIM:300695|DOID:0060253|OMIM:181430|UMLS:C2931268 owl:Class UBERON:0003521 biolink:NamedThing pes blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003516 biolink:NamedThing hindlimb blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016331 biolink:NamedThing morphogenesis of embryonic epithelium The process in which the anatomical structures of embryonic epithelia are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904409 biolink:NamedThing regulation of secretory granule organization Any process that modulates the frequency, rate or extent of secretory granule organization. tmpte7i6ely_mondo_relaxed.owl regulation of secretory granule organisation|regulation of secretory granule organization and biogenesis owl:Class MONDO:0007436 biolink:NamedThing dentin dysplasia type I Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth. tmpte7i6ely_mondo_relaxed.owl dentin dysplasia, type I, with extreme microdontia and misshapen teeth|radicular dentin dysplasia|dentin dysplasia type I|DD-I|dentin dysplasia, type I|dentin dysplasia, Shields type 1|rootless teeth|DTDP1|dentin dysplasia, type 1 MESH:C531665|ICD10:K00.5|UMLS:C0399379|SCTID:109493006|ICD9:520.5|Orphanet:99789|GARD:0001807|MESH:C538215|Orphanet:314721|OMIM:125400 https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1 owl:Class MONDO:0000410 biolink:NamedThing funisitis An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. tmpte7i6ely_mondo_relaxed.owl UMLS:C1275592|NCIT:C97077|ICD9:658.80|SCTID:396343006|DOID:0050698 owl:Class MONDO:0021562 biolink:NamedThing omphalitis Inflammation of the umbilical cord stump in newborns. tmpte7i6ely_mondo_relaxed.owl omphalitis|Omphalitis GTR:AN0533760|UMLS:C0028992|NCIT:C116008|SCTID:239095007 owl:Class MONDO:0001421 biolink:NamedThing frontal lobe neoplasm A neoplasm involving a frontal lobe. tmpte7i6ely_mondo_relaxed.owl tumor of frontal lobe|neoplasm of frontal lobe|neoplasm of the frontal lobe|malignant neoplasm of frontal lobe|tumor of the frontal lobe|frontal lobe tumor|frontal lobe neoplasm (disease) ICD9:191.1|SCTID:126954003|DOID:12016|NCIT:C5572|UMLS:C1263886|ICD10:C71.1 owl:Class MONDO:0021374 biolink:NamedThing neoplasm of cerebral hemisphere A neoplasm involving a cerebral hemisphere. tmpte7i6ely_mondo_relaxed.owl neoplasm of the cerebrum|cerebral tumor|cerebral hemispheric neoplasm|tumor of cerebrum|cerebral hemisphere tumor|neoplasm of cerebral hemisphere|neoplasm of the cerebral hemispheres|cerebral neoplasm|telencephalon neoplasm (disease)|neoplasm of cerebrum|cerebral neoplasms|tumor of cerebral hemisphere|tumor of the cerebrum|tumor of cerebral hemispheres|telencephalon tumor|cerebral hemisphere neoplasm|neoplasm of cerebral hemispheres|tumor of the cerebral hemispheres|neoplasm of telencephalon|cerebral hemispheric tumor|tumor of telencephalon NCIT:C4874|SCTID:126953009 owl:Class MONDO:0004065 biolink:NamedThing intermediate cell type choroid melanoma Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpte7i6ely_mondo_relaxed.owl intermediate cell type uveal melanoma of optic choroid|mixed cell melanoma of choroid|Intermediate cell type choroid melanoma|optic choroid intermediate cell type uveal melanoma DOID:6996|UMLS:C1334208|NCIT:C6100 owl:Class MONDO:0004062 biolink:NamedThing intermediate cell type uveal melanoma Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpte7i6ely_mondo_relaxed.owl intraocular mixed cell type melanoma|Intermediate cell type uveal melanoma|mixed cell type uveal melanoma|Intermediate cell type intraocular melanoma UMLS:C0279693|NCIT:C7989|DOID:6992 owl:Class HGNC:1984 biolink:NamedThing CISH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011321 biolink:NamedThing expansile bone lesions tmpte7i6ely_mondo_relaxed.owl expansile bone lesions UMLS:C1863880|MESH:C566375|OMIM:603439 owl:Class MONDO:0007874 biolink:NamedThing trichorhinophalangeal syndrome type II Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. tmpte7i6ely_mondo_relaxed.owl Giedion-Langer syndrome|trichorhinophalangeal syndrome type 2|chromosome 8Q24.1 deletion syndrome|trichorhinophalangeal syndrome, type II|TRPS 2|Langer Giedion syndrome|monosomy 8q24.1|TRPS2|trichorhinophalangeal dysplasia type II|deletion 8q24.1|trichorhinophalangeal syndrome, type 2|Langer-Giedion syndrome ICD9:759.89|UMLS:C0023003|NCIT:C75118|MESH:D015826|OMIM:150230|GARD:0007801|DOID:4998|MedDRA:10050638|SCTID:41069008|Orphanet:502|ICD10:Q87.8 owl:Class HGNC:14376 biolink:NamedThing ACP4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033343 biolink:NamedThing positive regulation of collagen binding Any process that activates or increases the frequency, rate or extent of collagen binding. tmpte7i6ely_mondo_relaxed.owl up-regulation of collagen binding|upregulation of collagen binding|activation of collagen binding|up regulation of collagen binding|stimulation of collagen binding owl:Class PO:0009087 biolink:NamedThing mesocarp A portion of plant tissue (PO:0009007) that is the middle layer of a pericarp (PO:0009084). tmpte7i6ely_mondo_relaxed.owl mesocarpo (Spanish, exact)|portion of mesocarp tissue (exact)|albedo (related)|中果皮 (Japanese, exact) PO_GIT:149|PO_GIT:511 plant_anatomy owl:Class FOODON:03420167 biolink:NamedThing fruit part The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014440 biolink:NamedThing Bardet-Biedl syndrome 12 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome 12|Bardet-Biedl syndrome caused by mutation in BBS12|Bardet-Biedl syndrome type 12|BBS12 Bardet-Biedl syndrome|BBS12 EFO:0009023|UMLS:C1859570|ICD10:Q87.89|DOID:0110134|GARD:0010211|MESH:C565921|OMIM:615989 owl:Class MONDO:0002513 biolink:NamedThing kidney benign neoplasm A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. tmpte7i6ely_mondo_relaxed.owl benign kidney tumor|renal and ureteral tumor|renal tumor, benign|benign neoplasm of the kidney|benign tumor of the kidney|benign tumor of kidney|benign renal neoplasm|kidney benign neoplasm|benign neoplasm of kidney|renal neoplasm, benign|benign renal tumor|benign kidney neoplasm DOID:3116|SCTID:92165001|EFO:1000111|NCIT:C4778|ICD9:223.0 owl:Class CHEBI:15365 biolink:NamedThing acetylsalicylic acid A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity. tmpte7i6ely_mondo_relaxed.owl ASA|2-Acetoxybenzenecarboxylic acid|salicylic acid acetate|acide acetylsalicylique|2-(ACETYLOXY)BENZOIC ACID|o-acetoxybenzoic acid|o-carboxyphenyl acetate|acidum acetylsalicylicum|Azetylsalizylsaeure|O-acetylsalicylic acid|Acetylsalicylic acid|2-acetoxybenzoic acid|acido acetilsalicilico|Acetylsalicylate|2-(acetyloxy)benzoic acid|Acetylsalicylsaeure|Easprin|Aspirin|acide 2-(acetyloxy)benzoique owl:Class CHEBI:22723 biolink:NamedThing benzoic acids Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905821 biolink:NamedThing positive regulation of chromosome condensation Any process that activates or increases the frequency, rate or extent of chromosome condensation. tmpte7i6ely_mondo_relaxed.owl up regulation of chromosome condensation|up-regulation of eukaryotic chromosome condensation|positive regulation of eukaryotic chromosome condensation|upregulation of chromosome condensation|upregulation of nuclear chromosome condensation|up-regulation of chromosome condensation|activation of nuclear chromosome condensation|upregulation of eukaryotic chromosome condensation|positive regulation of nuclear chromosome condensation|up regulation of eukaryotic chromosome condensation|up-regulation of nuclear chromosome condensation|activation of eukaryotic chromosome condensation|up regulation of nuclear chromosome condensation|activation of chromosome condensation owl:Class GO:0060623 biolink:NamedThing regulation of chromosome condensation Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4057 biolink:NamedThing G6PD tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008810 biolink:NamedThing nasopalatine nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036990 biolink:NamedThing wall of pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7849 biolink:NamedThing NME1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017584 biolink:NamedThing Sagliker syndrome A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face tmpte7i6ely_mondo_relaxed.owl UMLS:CN203388|Orphanet:300493 owl:Class CL:1000361 biolink:NamedThing transitional myocyte of interatrial septum A transitional myocyte that is part of the interatrial septum. tmpte7i6ely_mondo_relaxed.owl FMA:263152 cell owl:Class CL:0002073 biolink:NamedThing transitional myocyte Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes. tmpte7i6ely_mondo_relaxed.owl FMA:67142 tmeehan 2010-06-29T02:39:32Z cell owl:Class MONDO:0008192 biolink:NamedThing paragangliomas 1 Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. tmpte7i6ely_mondo_relaxed.owl SDHD paraganglioma|paragangliomas type 1|paraganglioma, carotid body|paragangliomas with sensorineural hearing loss|glomus jugulare tumors|carotid body tumors|paragangliomas, familial nonchromaffin, 1|paragangliomas 1|paraganglioma caused by mutation in SDHD|chemodectomas|glomus tumors, familial, 1|paragangliomas, familial, 1|PGL1|Paragangliomata UMLS:C0030421|OMIM:168000|GARD:0007324|Orphanet:29072 owl:Class GO:1904478 biolink:NamedThing regulation of intestinal absorption Any process that modulates the frequency, rate or extent of intestinal absorption. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044058 biolink:NamedThing regulation of digestive system process Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015425 biolink:NamedThing lethal recessive chondrodysplasia Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia lethal recessive|Maroteaux-Stanescu-Cousin syndrome UMLS:C4304745|SCTID:719404009|Orphanet:1423|UMLS:CN199522|GARD:0001294|ICD10:Q78.8 https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive owl:Class MONDO:0021529 biolink:NamedThing benign neoplasm of chest wall A benign neoplasm that involves the chest wall. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the chest wall|chest wall benign neoplasm|benign chest wall neoplasm|benign tumor of the chest wall|benign chest wall tumor|benign tumor of chest wall SCTID:92058007|NCIT:C8529|ICD9:229.8|UMLS:C0684831 owl:Class MONDO:0000634 biolink:NamedThing thoracic benign neoplasm A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. tmpte7i6ely_mondo_relaxed.owl benign thoracic tumor|benign tumor of the thorax|benign neoplasm of thorax|thoracic segment of trunk benign neoplasm|benign tumor of thorax|benign neoplasm of the thorax|benign thoracic neoplasm UMLS:C0346440|ICD9:229.8|DOID:0060097|NCIT:C4565|SCTID:255059002 MONDO:0021448 owl:Class MONDO:0013725 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 7 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. tmpte7i6ely_mondo_relaxed.owl hereditary nonpolyposis colon cancer caused by mutation in MLH3|MLH3 hereditary nonpolyposis colon cancer|HNPCC7|colorectal cancer, hereditary nonpolyposis, type 7 OMIM:614385|DOID:0070276|MESH:C565777|Orphanet:144|UMLS:C1858380 owl:Class MONDO:0012259 biolink:NamedThing colloid cysts of third ventricle Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening. tmpte7i6ely_mondo_relaxed.owl neuroepithelial cysts of third ventricle|colloid cysts of third ventricle MESH:C535966|OMIM:609363|GARD:0009878 https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle owl:Class OBO:CHR_9606-chr19q13 biolink:NamedThing 19q13 (Human) tmpte7i6ely_mondo_relaxed.owl 58617616 31900000 hg38 owl:Class MONDO:0006151 biolink:NamedThing colon dysplasia A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion. tmpte7i6ely_mondo_relaxed.owl dysplasia of colon|colonic dysplasia|dysplasia of the colon SCTID:308870004|UMLS:C1302363|EFO:1000183|NCIT:C4847 Editor notes: not in NCIT neoplas subset owl:Class MONDO:0003409 biolink:NamedThing colonic disorder Pathological processes in the colon region of the large intestine (intestine, large). tmpte7i6ely_mondo_relaxed.owl colon disease or disorder|colon disease|disorder of colon|colon disorder|disease or disorder of colon|disease of colon MESH:D003108|UMLS:C0009373|SCTID:128524007|DOID:5353 owl:Class HGNC:17893 biolink:NamedThing PGAP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018947 biolink:NamedThing centronuclear myopathy Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. tmpte7i6ely_mondo_relaxed.owl centronuclear myopathy|myopathy, centronuclear|myotubular myopathy|CNM|myopathy, myotubular OMIMPS:160150|OMIM:160150|UMLS:C0175709|OMIM:310400|OMIM:614408|ICD10:G71.2|GARD:0000101|OMIM:255200|Orphanet:595|SCTID:82077006|Orphanet:596|DOID:14717|OMIM:615959|OMIM:614807 https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy owl:Class HGNC:10778 biolink:NamedThing SFRP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008876 biolink:NamedThing Bloom syndrome Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. tmpte7i6ely_mondo_relaxed.owl microcephaly, growth restriction, and increased sister chromatid exchange 1|congenital telangiectatic erythema syndrome|BS|growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|congenital telangiectatic erythema|BSyn|Bloom syndrome|MGRISCE1|BLM|Bloom-Torre-Machacek syndrome|BLS UMLS:C0005859|OMIM:210900|DOID:2717|MESH:D001816|ICD9:757.39|Orphanet:125|GARD:0000915|NCIT:C2903|ICD10:Q82.2|SCTID:4434006 https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome owl:Class MONDO:0015312 biolink:NamedThing choanal atresia, unilateral Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. tmpte7i6ely_mondo_relaxed.owl Orphanet:137917|ICD10:Q30.0|UMLS:CN199280 owl:Class MONDO:0012155 biolink:NamedThing choanal atresia Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. tmpte7i6ely_mondo_relaxed.owl PCA|choanal atresia, POSTERIOR|posterior choanal atresia|atresia of nares|imperforate nares Orphanet:137914|MedDRA:10008587|MESH:D002754|OMIM:608911|ICD9:748.0|ICD10:Q30.0|SCTID:204508009|DOID:9574 owl:Class MONDO:0006975 biolink:NamedThing smooth muscle tumor A benign or malignant myomatous neoplasm arising from smooth muscle. tmpte7i6ely_mondo_relaxed.owl smooth muscle tumor|smooth muscle neoplasm|tumor of the smooth muscle|neoplasm of smooth muscle|neoplasm of the smooth muscle|tumor of smooth muscle UMLS:C0206658|NCIT:C3751|EFO:1001185|MESH:D018235|DOID:4310 owl:Class MONDO:0021545 biolink:NamedThing myomatous neoplasm A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. tmpte7i6ely_mondo_relaxed.owl tumor of the muscle|neoplasm of the muscle|myomatous neoplasm|muscle tissue neoplasm|myofibroblastomas|myomatous tumor|myoblastoma|muscle tumor|neoplasm, muscle tissue|muscle tissue neoplasms|neoplasm of muscle|tumor of muscle|myoblastomas|muscle neoplasm|myofibroblastoma NCIT:C4063|MESH:D019042|MESH:D009379 owl:Class NCBITaxon:41196 biolink:NamedThing Neolepidoptera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41191 biolink:NamedThing Glossata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011878 biolink:NamedThing Worth syndrome A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate. tmpte7i6ely_mondo_relaxed.owl autosomal dominant osteosclerosis|Van Buchem disease, type 2|Worth's syndrome|osteosclerosis of the skull and enlarged mandible|VBCH2|benign form of Worth hyperostosis corticalis generalisata with torus platinus|autosomal dominant endosteal hyperostosis|Van Buchem disease type 2 OMIM:607636|GARD:0009488|Orphanet:3416|DOID:0080037|SCTID:254131007 owl:Class MONDO:0003332 biolink:NamedThing malignant struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). tmpte7i6ely_mondo_relaxed.owl struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant ICDO:9090/3|NCIT:C4291|DOID:5208|UMLS:C0334525 owl:Class MONDO:0006980 biolink:NamedThing struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion). tmpte7i6ely_mondo_relaxed.owl struma ovarii (morphologic abnormality)|struma ovarii|struma ovarii NOS (morphologic abnormality) ICDO:9090/0|EFO:1001192|NCIT:C7468|UMLS:C0038478|MESH:D013330|DOID:2640 owl:Class MONDO:0004402 biolink:NamedThing testicular yolk sac tumor, glandular-alveolar pattern A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. tmpte7i6ely_mondo_relaxed.owl glandular-alveolar pattern testicular yolk sac tumor|testicular yolk sac tumor, glandular-alveolar pattern DOID:7930|NCIT:C39926|UMLS:C1515305 owl:Class MONDO:0003402 biolink:NamedThing testicular yolk sac tumor A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. tmpte7i6ely_mondo_relaxed.owl Orchidoblastoma|yolk Sac tumor of testis|endodermal-sinus tumor|testis yolk sac tumor|yolk sac tumor|testicular yolk sac tumor|endodermal sinus tumor of the testis|testicular endodermal sinus neoplasm|yolk Sac neoplasm of the testis|testicular endodermal sinus tumor|endodermal sinus neoplasm of the testis|yolk Sac tumor of the testis|testicular yolk Sac neoplasm|endodermal sinus tumor of testis|endodermal sinus neoplasm of testis|yolk Sac neoplasm of testis NCIT:C8000|GARD:0000348|ONCOTREE:TYST|UMLS:C0279708|EFO:1000574|DOID:5344|UMLS:C0014145 owl:Class MONDO:0100258 biolink:NamedThing phytanoyl-CoA hydroxylase deficiency Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene. tmpte7i6ely_mondo_relaxed.owl PHYH related disorder of peroxisomal alpha oxidation|phytanoyl-CoA hydroxylase deficiency|PHYH deficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100277 biolink:NamedThing disorder of peroxisomal alpha oxidation Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion. tmpte7i6ely_mondo_relaxed.owl disorder of peroxisomal alpha oxidation http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014758 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene. tmpte7i6ely_mondo_relaxed.owl radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2|MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|RUSAT2|radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM:616738|UMLS:C4225221 https://github.com/monarch-initiative/mondo/issues/3952 owl:Class MONDO:0100458 biolink:NamedThing MECOM-associated syndrome Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3952 owl:Class ENVO:00000000 biolink:NamedThing geographic feature tmpte7i6ely_mondo_relaxed.owl macroscopic spatial feature owl:Class ENVO:01000813 biolink:NamedThing astronomical body part A material part of an astronomical body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032690 biolink:NamedThing microcephaly, growth deficiency, seizures, and brain malformations tmpte7i6ely_mondo_relaxed.owl MIGSB|MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS OMIM:618346 owl:Class MONDO:0044351 biolink:NamedThing Schistosoma intercalatum infectious disease An disease or disorder caused by infection with Schistosoma intercalatum. tmpte7i6ely_mondo_relaxed.owl Schistosoma intercalatum caused disease or disorder|infection by Schistosoma intercalatum|Schistosoma intercalatum disease or disorder|infection caused by Schistosoma intercalatum NCIT:C35364|ICD9:120.8|SCTID:52179003|UMLS:C0276932 owl:Class MONDO:0015254 biolink:NamedThing schistosomiasis An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. tmpte7i6ely_mondo_relaxed.owl bilharziasis|Bilharzia|snail fever|schistosomiasis MedDRA:10039603|DOID:1395|EFO:1001475|ICD10:B65.1|NCIT:C35000|Orphanet:1247|MESH:D012552|GARD:0009687|UMLS:C0036323|ICD9:120.8|SCTID:10087007|ICD9:120.9|ICD10:B65.2|ICD10:B65.3|ICD10:B65.0|ICD10:B65.9|OMIM:181460|ICD10:B65.8 owl:Class MONDO:0000771 biolink:NamedThing allergic respiratory disease A respiratory system disease with a basis in a pathological type I hypersensitivity reaction. tmpte7i6ely_mondo_relaxed.owl respiratory allergy|allergic form of respiratory system disease|airway allergy|allergic respiratory system disease DOID:0060496 owl:Class MONDO:0003861 biolink:NamedThing vulvar eccrine adenocarcinoma An eccrine adenocarcinoma that arises from the sweat glands in the vulva. tmpte7i6ely_mondo_relaxed.owl eccrine carcinoma of mammalian vulva|vulvar eccrine adenocarcinoma|mammalian vulva eccrine carcinoma NCIT:C40305|UMLS:C2202743|DOID:6339 owl:Class CHEBI:22271 biolink:NamedThing aflatoxin Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins tmpte7i6ely_mondo_relaxed.owl aflatoxins owl:Class CHEBI:48210 biolink:NamedThing cyclopentafurofurochromene tmpte7i6ely_mondo_relaxed.owl cyclopentafurofurochromenes owl:Class MONDO:0003377 biolink:NamedThing extrahepatic bile duct leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of the extrahepatic bile duct|leiomyosarcoma of the bile duct|extrahepatic bile duct leiomyosarcoma|bile duct leiomyosarcoma|leiomyosarcoma of extrahepatic bile duct|leiomyosarcoma of bile duct UMLS:C1333508|DOID:5293|NCIT:C5848 owl:Class MONDO:0003378 biolink:NamedThing liver leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl liver leiomyosarcoma|leiomyosarcoma of the liver|leiomyosarcoma of liver|hepatic leiomyosarcoma UMLS:C1333969|DOID:5296|NCIT:C5756 owl:Class MONDO:0045070 biolink:NamedThing digestive system melanoma A melanoma that arises from any part of the digestive system. tmpte7i6ely_mondo_relaxed.owl digestive system melanoma|melanoma (disease) of digestive system|digestive system melanoma (disease)|gastrointestinal melanoma UMLS:C1333798|NCIT:C7091|GARD:0010409 owl:Class MONDO:0004438 biolink:NamedThing sporadic breast cancer A carcinoma that arises from the breast and is not caused by inherited genetic mutations. tmpte7i6ely_mondo_relaxed.owl sporadic breast cancer|sporadic breast carcinoma NCIT:C7566|DOID:8029|UMLS:C1336076 owl:Class MONDO:0004989 biolink:NamedThing breast carcinoma A carcinoma that arises from epithelial cells of the breast tmpte7i6ely_mondo_relaxed.owl carcinoma of breast|carcinoma of the breast|breast carcinoma|cancer of breast|cancer of the breast|breast cancer|cancer, breast|mammary carcinoma|breast cancer, NOS DOID:3459|SCTID:254838004|NCIT:C4872|EFO:0000305|UMLS:C0678222|MESH:D001943 owl:Class MONDO:0021895 biolink:NamedThing temporomandibular joint dysfunction syndrome A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. tmpte7i6ely_mondo_relaxed.owl Syndrome, TMJ|Joint Syndrome, Temporomandibular|Temporomandibular joint-pain-dysfunction syndrome|Temporomandibular joint syndrome|Temporomandibular Joint Dysfunction Syndrome|Costen's syndrome|TMJ Syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|temporomandibular joint dysfunction syndrome|Mandibular dysfunction|Snapping jaw|TMJPDS - Temporomandibular joint pain dysfunction syndrome|Temporomandibular Joint Syndrome|Temporomandibular joint pain dysfunction syndrome|Myofascial pain - dysfunction syndrome of TMJ|TMJ syndrome|Costen's complex|Syndrome, Costen's|Syndrome, Temporomandibular Joint|Costen's Syndrome|Costens Syndrome|Costen Syndrome NCIT:C35066|MESH:D013706|UMLS:C0039496 owl:Class MONDO:0005473 biolink:NamedThing temporomandibular joint disorder Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. tmpte7i6ely_mondo_relaxed.owl TMD MESH:D013705|NCIT:C63709|ICD9:524.60|ICD9:524.69|SCTID:41888000|EFO:0005279 owl:Class UBERON:0000965 biolink:NamedThing lens of camera-type eye tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013298 biolink:NamedThing chromosome 17q21.31 duplication syndrome The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. tmpte7i6ely_mondo_relaxed.owl chromosome 17q21.31 duplication syndrome|17q21.31 microduplication syndrome|trisomy 17q21.31|dup(17)(q21.31) SCTID:716683005|Orphanet:217340|UMLS:C4274345|UMLS:C3150787|DOID:0060434|OMIM:613533|ICD10:Q92.3 owl:Class MONDO:0010852 biolink:NamedThing chromosome 8Q12.1-q21.2 deletion syndrome tmpte7i6ely_mondo_relaxed.owl Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|bor-Duane hydrocephalus contiguous Gene syndrome|chromosome 8Q12.1-q21.2 deletion syndrome OMIM:600257|MESH:C536574|UMLS:C1838346|GARD:0010002 owl:Class CL:0000666 biolink:NamedThing fenestrated cell tmpte7i6ely_mondo_relaxed.owl window cell cell owl:Class HGNC:2204 biolink:NamedThing COL4A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011604 biolink:NamedThing spondylo-ocular syndrome Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. tmpte7i6ely_mondo_relaxed.owl SOS|spondyloocular syndrome ICD10:Q87.5|Orphanet:85194|SCTID:715653007|OMIM:605822 owl:Class NCBITaxon:48796 biolink:NamedThing Setaria tmpte7i6ely_mondo_relaxed.owl Setaria GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:48791 biolink:NamedThing Setariidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012467 biolink:NamedThing cold-induced sweating syndrome 2 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene. tmpte7i6ely_mondo_relaxed.owl cold-induced sweating syndrome caused by mutation in CLCF1|Crisponi/cold-induced sweating syndrome 2|CISS2|CRISPONI/cold-induced sweating syndrome 2|cold-induced sweating syndrome type 2|cold-induced sweating syndrome 2|CLCF1 cold-induced sweating syndrome MESH:C564791|Orphanet:157820|DOID:0080330|OMIM:610313|UMLS:C1853198 owl:Class MONDO:0015526 biolink:NamedThing cold-induced sweating syndrome Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. tmpte7i6ely_mondo_relaxed.owl CISS|Sohar-Crisponi syndrome ICD10:G90.8|Orphanet:157820|OMIM:617055|UMLS:CN043579|OMIM:272430|SCTID:702363009|MESH:C536214|DOID:0060294|OMIM:610313|OMIMPS:272430 owl:Class MONDO:0020506 biolink:NamedThing ovarioleukodystrophy tmpte7i6ely_mondo_relaxed.owl ICD10:E75.2|UMLS:C1847967|OMIM:603896|Orphanet:99853|OMIM:615889 owl:Class MONDO:0011380 biolink:NamedThing leukoencephalopathy with vanishing white matter A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. tmpte7i6ely_mondo_relaxed.owl CACH|vanishing white matter disease|childhood ataxia with diffuse central nervous system hypomyelination|ovarioleukodystrophy|CACH/VWM syndrome|CACH syndrome|myelinosis centralis diffusa|Cree leukoencehalopathy|leukoencephalopathy with vanishing WHITE matter|vanishing White matter leukodystrophy with ovarian failure|leukoencephalopathy with vanishing white matter|Cree leukoencephalopathy|childhood ataxia with central nervous system hypomyelination|vanishing white matter leukodystrophy|childhood ataxia with central nervous system hypomyelination/vanishing white matter|VWM|childhood ataxia with central nervous system hypomyelinization|vanishing White matter leukodystrophy|CACH/VWM OMIM:603896|NCIT:C122664|UMLS:C1847967|Orphanet:99853|UMLS:C1858991|OMIM:615889|GARD:0000231|Orphanet:135|Orphanet:157713|Orphanet:99854|ICD10:E75.2|Orphanet:157719|DOID:0060868|SCTID:447351004|UMLS:CN199219|Orphanet:157716 owl:Class MONDO:0008791 biolink:NamedThing isolated anencephaly/exencephaly Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. tmpte7i6ely_mondo_relaxed.owl absence of a large part of the brain and the skull|anencephaly|ANPH 2022-12-01 ICD9:740.0|SCTID:89369001|GARD:0005808|OMIM:206500|ICD10:Q00.0|Orphanet:1048 This will be obsoleted in the 2021-12-01 release. The term will be split into two terms: MONDO:8000007 anencephaly 1 and MONDO:0023893 anencephaly. owl:Class MONDO:0000819 biolink:NamedThing anencephaly A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. tmpte7i6ely_mondo_relaxed.owl anencephalus ICD10:00.0|OMIM:206500|NCIT:C84560|Orphanet:1048|DOID:0060668|OMIMPS:206500 owl:Class CHEBI:18291 biolink:NamedThing manganese atom tmpte7i6ely_mondo_relaxed.owl Manganese|manganese|manganeso|manganum|Mn|Mangan|25Mn owl:Class CHEBI:33352 biolink:NamedThing manganese group element atom tmpte7i6ely_mondo_relaxed.owl group 7 elements|manganese group element|manganese group elements owl:Class MONDO:0009572 biolink:NamedThing autosomal recessive familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. tmpte7i6ely_mondo_relaxed.owl FMF|familial MEDITERRANEAN FEVER|familial Mediterranean fever, autosomal recessive|autosomal recessive familial Mediterranean fever|polyserositis, recurrent|familial Mediterranean fever|polyserositis, familial paroxysmal Orphanet:342|UMLS:C0031069|OMIM:249100 owl:Class MONDO:0018088 biolink:NamedThing familial Mediterranean fever Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. tmpte7i6ely_mondo_relaxed.owl benign recurrent polyserositis|periodic disease|benign paroxysmal peritonitis|FMF|familial paroxysmal polyserositis SCTID:12579009|NCIT:C84707|MESH:D010505|ICD10:E85.0|GARD:0006421|ICD9:277.31|DOID:2987|Orphanet:342|MedDRA:10016207|OMIM:249100|OMIM:134610|UMLS:C0031069 owl:Class UBERON:0002387 biolink:NamedThing pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018847 biolink:NamedThing omphalomesenteric cyst tmpte7i6ely_mondo_relaxed.owl SCTID:80880002|Orphanet:490|GARD:0004081|ICD10:Q43.0 https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst owl:Class GO:0022409 biolink:NamedThing positive regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. tmpte7i6ely_mondo_relaxed.owl activation of cell-cell adhesion|up-regulation of cell-cell adhesion|up regulation of cell-cell adhesion|upregulation of cell-cell adhesion|stimulation of cell-cell adhesion owl:Class GO:0022407 biolink:NamedThing regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001997 biolink:NamedThing decreased amount An amount which is relatively low. tmpte7i6ely_mondo_relaxed.owl present in fewer numbers in organism|reduced|subnumerary|decreased|decreased number owl:Class PATO:0000070 biolink:NamedThing amount The number of entities of this type that are part of the whole organism. tmpte7i6ely_mondo_relaxed.owl quantitative|number|count in organism|presence|presence or absence in organism owl:Class MONDO:0014670 biolink:NamedThing lethal congenital contracture syndrome 9 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene. tmpte7i6ely_mondo_relaxed.owl LCCS9|lethal congenital contracture syndrome 9|ADGRG6 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in ADGRG6|lethal congenital contracture syndrome type 9 OMIM:616503|UMLS:C4225303 owl:Class MONDO:0017436 biolink:NamedThing lethal congenital contracture syndrome A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. tmpte7i6ely_mondo_relaxed.owl LCCS Orphanet:294965|OMIMPS:253310|DOID:0060558|GARD:0012643|ICD10:Q68.8|UMLS:CN239241 owl:Class MONDO:0016287 biolink:NamedThing adenoid basal carcinoma of the cervix uteri A skin adenoid basal cell carcinoma that involves the uterine cervix. tmpte7i6ely_mondo_relaxed.owl cervical adenoid basal carcinoma|skin adenoid basal cell carcinoma of uterine cervix|uterine cervix skin adenoid basal cell carcinoma ICD10:C53.1|ICD10:C53.8|UMLS:CN201077|Orphanet:213828|ICD10:C53.0 owl:Class MONDO:0001192 biolink:NamedThing esophageal melanoma A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) tmpte7i6ely_mondo_relaxed.owl melanoma of esophagus|esophagus melanoma|mucosal melanoma of the esophagus|melanoma (disease) of esophagus|esophageal melanoma|melanoma of the esophagus|esophagus melanoma (disease) ONCOTREE:ESMM|DOID:1108|NCIT:C5707|UMLS:C1333460 owl:Class UBERON:0007390 biolink:NamedThing pectoral appendage cartilage tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002418 biolink:NamedThing cartilage tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018169 biolink:NamedThing morning glory syndrome Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. tmpte7i6ely_mondo_relaxed.owl Volubilis syndrome|Ectasic coloboma UMLS:C0549307|OMIM:120430|ICD10:Q14.2|MedDRA:10027974|Orphanet:35737|GARD:0013354 https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome owl:Class MONDO:0007354 biolink:NamedThing coloboma of optic nerve tmpte7i6ely_mondo_relaxed.owl coloboma of optic nerve (disease)|congenital coloboma of the optic nerve|coloboma of optic nerve|optic nerve head pits, bilateral congenital|morning glory Disc anomaly|optic nerve coloboma coloboma of optic nerve (disease) GARD:0008502|Orphanet:35737|MESH:C535970|DOID:11975|ICD10:H47.319|ICD10:H47.31|HP:0000588|OMIM:120430|SCTID:17541006|ICD10:Q14.2|ICD9:377.23 owl:Class MONDO:0016760 biolink:NamedThing microcephaly-microcornea syndrome, Seemanova type Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. tmpte7i6ely_mondo_relaxed.owl Seemanova Lesny syndrome|Seemanova-Lesny syndrome|microcephaly microcornea syndrome Seemanova type|X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation Orphanet:2528|ICD10:Q87.8|MESH:C537539|SCTID:715464002|GARD:0003627 https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type owl:Class MONDO:0002083 biolink:NamedThing Richter syndrome Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. tmpte7i6ely_mondo_relaxed.owl Richter transformation|Richter's syndrome|Richter syndrome|Richter's transformation SCTID:277550009|GARD:0007578|UMLS:C0349631|ICD10:C91.1|DOID:1703|NCIT:C35424 owl:Class MONDO:0021058 biolink:NamedThing neoplastic syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. tmpte7i6ely_mondo_relaxed.owl cancer-related syndrome|neoplastic syndrome|tumor syndrome NCIT:C54705 owl:Class MONDO:0018102 biolink:NamedThing corneal dystrophy The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy|corneal dystrophy (disease) corneal dystrophy (disease) Orphanet:34533|HP:0001131|DOID:2566|ICD9:371.50|MESH:D003317|NCIT:C34513|MedDRA:10011005|UMLS:C0010036|ICD10:H18.5|ICD10:H18.50|ICD9:371.5|SCTID:5587004 Editor note: NCIT distinguishes between acquired and genetic owl:Class OBI:0000112 biolink:NamedThing specimen role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000023 biolink:NamedThing role A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003692 biolink:NamedThing adult malignant mesenchymoma A malignant mesenchymoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl malignant mesenchymoma of adults|malignant mesenchymoma|adult malignant mesenchymoma NCIT:C7947|UMLS:C0279548|DOID:5894 owl:Class MONDO:0003633 biolink:NamedThing malignant mesenchymoma A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpte7i6ely_mondo_relaxed.owl mesenchymoma, malignant (morphologic abnormality)|mesenchymoma, malignant NCIT:C4268|DOID:5758|ICDO:8990/3|GARD:0003369 owl:Class MONDO:0002470 biolink:NamedThing photosensitive trichothiodystrophy A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway tmpte7i6ely_mondo_relaxed.owl Tay syndrome|IBIDS syndrome|trichothiodystrophy|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|trichothiodystrophy with congenital ichthyosis|trichothiodystrophy with congenital ichtyosis|sulfur-deficient brittle hair syndrome GARD:0002944|UMLS:CN205101|Orphanet:453|DOID:2960|OMIM:601675 owl:Class MONDO:0021190 biolink:NamedThing DNA repair disease A disease that has its basis in the disruption of DNA repair. tmpte7i6ely_mondo_relaxed.owl syndromes, chromosome instability|DNA repair-deficiency disorder|DNA repair-deficiency|disorders, DNA repair-deficiency|DNA repair disorder|DNA repair, deficient|syndrome, chromosome instability|DNA repair deficiency|deficiency of DNA repair|repair, deficient DNA|Repairs, deficient DNA|disorder, DNA repair-deficiency|DNA Repairs, deficient|DNA repair-deficiencies|deficient DNA Repairs|deficient DNA repair|chromosome instability syndrome|chromosome instability syndromes|disorder of DNA repair|DNA repair deficiency disorders MESH:D049914|NCIT:C7757|EFO:0008499 owl:Class GO:0050864 biolink:NamedThing regulation of B cell activation Any process that modulates the frequency, rate or extent of B cell activation. tmpte7i6ely_mondo_relaxed.owl regulation of B-cell activation|regulation of B lymphocyte activation|regulation of B-lymphocyte activation owl:Class MONDO:0002934 biolink:NamedThing intravascular angioleiomyoma A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. tmpte7i6ely_mondo_relaxed.owl intravascular angiomyoma|intravascular angioleiomyoma UMLS:C1334267|NCIT:C5355|DOID:4266 owl:Class MONDO:0007340 biolink:NamedThing cleidocranial dysplasia Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. tmpte7i6ely_mondo_relaxed.owl cleidocranial dysplasia|CLCD|cleidocranial dysplasia, forme fruste, dental anomalies only|cleidocranial dysplasia, forme fruste, with brachydactyly|CCD|Marie-Sainton disease|dysplasia cleidocranial|cleidocranial dysostosis DOID:13994|ICD9:755.59|NCIT:C75020|SCTID:65976001|OMIM:216330|OMIM:119600|Orphanet:1452|MESH:D002973|GARD:0006118|UMLS:C0008928|ICD10:Q74.0 owl:Class MONDO:0020018 biolink:NamedThing cranial malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98038 owl:Class MONDO:0009967 biolink:NamedThing renal tubular acidosis 3 tmpte7i6ely_mondo_relaxed.owl renal tubular acidosis, distal, type 3|RTA, bicarbonate-wasting type|renal tubular acidosis type 3|bicarbonate-wasting RTA|renal tubular acidosis III|RTA, dislocation type Orphanet:2785|MESH:C537759|OMIM:267200|GARD:0004670 owl:Class GO:0004555 biolink:NamedThing alpha,alpha-trehalase activity Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose. tmpte7i6ely_mondo_relaxed.owl alpha,alpha-trehalose glucohydrolase activity owl:Class GO:0015927 biolink:NamedThing trehalase activity Catalysis of the hydrolysis of trehalose or a trehalose derivative. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000409 biolink:NamedThing chorioamnionitis A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. tmpte7i6ely_mondo_relaxed.owl inflammation of fetal membrane|fetal membrane inflammation|intra-amniotic infection MESH:D002821|NCIT:C26720|DOID:0050697|SCTID:11612004 owl:Class MONDO:0016193 biolink:NamedThing qualitative or quantitative defects of alpha-actin tmpte7i6ely_mondo_relaxed.owl Orphanet:209059 owl:Class HGNC:11201 biolink:NamedThing SOX5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010355 biolink:NamedThing syndromic X-linked intellectual disability Claes-Jensen type tmpte7i6ely_mondo_relaxed.owl syndromic X-linked intellectual disability due to JARID1C mutation|syndromic X-linked intellectual disability JARID1C-related|MRXSJ|intellectual disability, X-linked, syndromic, JARID1C-related|intellectual disability, X-linked, syndromic, Claes-Jensen type|mental retardation, X-linked, syndromic, JARID1C-related|MRXSCJ|syndromic X-linked mental retardation JARID1C-related|mental retardation, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability Claes-Jensen type OMIM:300534|DOID:0060809|SCTID:719161008|ICD10:Q87.8|Orphanet:85279|MESH:C564494|UMLS:C1845243|UMLS:C4304915 owl:Class MONDO:0054729 biolink:NamedThing spermatogenic failure 25 tmpte7i6ely_mondo_relaxed.owl SPGF25|spermatogenic failure 25 OMIM:617960 owl:Class UBERON:0003716 biolink:NamedThing recurrent laryngeal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011779 biolink:NamedThing nerve of head region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001356 biolink:NamedThing iron deficiency anemia Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. tmpte7i6ely_mondo_relaxed.owl iron-deficiency anemia ICD9:280.8|SCTID:87522002|UMLS:C0162316|MESH:D018798|DOID:11758|NCIT:C84484|ICD9:280.9 owl:Class MONDO:0000387 biolink:NamedThing hypochromic microcytic anemia Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic). tmpte7i6ely_mondo_relaxed.owl hypochromic microcytic anemia|hypochromic microcytic anemia (disease) hypochromic microcytic anemia (disease) OMIM:206100|DOID:0050642|SCTID:44666001|MESH:C536357|HP:0004840|UMLS:C0271901|OMIM:615234 owl:Class NCBITaxon:1313 biolink:NamedThing Streptococcus pneumoniae tmpte7i6ely_mondo_relaxed.owl Micrococcus pneumoniae|Diplococcus pneumoniae GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1301 biolink:NamedThing Streptococcus tmpte7i6ely_mondo_relaxed.owl PMID:8995803|PMID:1720654|PMID:7537076|PMID:19880633|PMID:14657115|PMID:19620365|GC_ID:11|PMID:10555340 ncbi_taxonomy owl:Class GO:0001803 biolink:NamedThing regulation of type III hypersensitivity Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002889 biolink:NamedThing regulation of immunoglobulin mediated immune response Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902532 biolink:NamedThing negative regulation of intracellular signal transduction Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction. tmpte7i6ely_mondo_relaxed.owl negative regulation of intracellular signal transduction pathway|inhibition of signal transmission via intracellular cascade|negative regulation of intracellular signaling chain|inhibition of signal transduction via intracellular signaling cascade|negative regulation of signal transduction via intracellular signaling cascade|inhibition of intracellular signaling chain|down regulation of intracellular signaling chain|down-regulation of intracellular signal transduction pathway|downregulation of intracellular signal transduction pathway|down-regulation of intracellular signal transduction|negative regulation of signal transmission via intracellular cascade|downregulation of signal transmission via intracellular cascade|down regulation of signal transmission via intracellular cascade|inhibition of intracellular signal transduction pathway|downregulation of intracellular signaling pathway|down regulation of signal transduction via intracellular signaling cascade|down regulation of intracellular signal transduction pathway|downregulation of signal transduction via intracellular signaling cascade|down-regulation of signal transduction via intracellular signaling cascade|inhibition of intracellular signaling pathway|down regulation of intracellular signaling pathway|negative regulation of intracellular signaling cascade|down-regulation of intracellular signaling cascade|downregulation of intracellular signal transduction|down regulation of intracellular signal transduction|down-regulation of intracellular signaling chain|down-regulation of intracellular signaling pathway|down-regulation of signal transmission via intracellular cascade|down regulation of intracellular signaling cascade|negative regulation of intracellular signaling pathway|downregulation of intracellular signaling cascade|negative regulation of intracellular protein kinase cascade|inhibition of intracellular signaling cascade|inhibition of intracellular signal transduction|downregulation of intracellular signaling chain owl:Class GO:0032270 biolink:NamedThing positive regulation of cellular protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl positive regulation of cellular protein metabolism|upregulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|up regulation of cellular protein metabolic process|activation of cellular protein metabolic process|stimulation of cellular protein metabolic process owl:Class GO:0051247 biolink:NamedThing positive regulation of protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpte7i6ely_mondo_relaxed.owl up regulation of protein metabolic process|stimulation of protein metabolic process|up-regulation of protein metabolic process|activation of protein metabolic process|positive regulation of protein metabolism|upregulation of protein metabolic process owl:Class MONDO:0012097 biolink:NamedThing spondylocostal dysostosis 2, autosomal recessive tmpte7i6ely_mondo_relaxed.owl spondylocostal dysostosis 2, autosomal recessive|spondylocostal dysostosis 2|SCDO2 GARD:0009703|OMIM:608681|Orphanet:2311|UMLS:C1837549 owl:Class MONDO:0000359 biolink:NamedThing spondylocostal dysostosis Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital). tmpte7i6ely_mondo_relaxed.owl SCDO|Jarcho-Levin syndrome|spondylocostal dysplasia|SCD|costovertebral dysplasia|spondylocostal dysostosis Orphanet:2311|DOID:0050568|NCIT:C125598|OMIM:122600|OMIM:277300|GARD:0006798|MESH:C537565|OMIM:609813|OMIMPS:277300|GARD:0012174|GARD:0010726|UMLS:CN201467|Orphanet:1797|OMIM:608681|OMIM:613686 Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. owl:Class MONDO:0014052 biolink:NamedThing congenital myasthenic syndrome 8 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, 8|congenital myasthenic syndrome caused by mutation in AGRN|myasthenic syndrome, congenital, due to agrin deficiency|AGRN congenital myasthenic syndrome|congenital myasthenic syndrome 8|congenital myasthenic syndrome due to agrin deficiency|congenital myasthenic syndrome type 8|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|CMS8|myasthenic syndrome, congenital, type 8|myasthenic syndrome, congenital, with Pre- and postsynaptic defects Orphanet:98914|DOID:0110657|UMLS:C3808739|OMIM:615120|Orphanet:590 owl:Class MONDO:0001109 biolink:NamedThing petrositis Inflammation of petrous bone. tmpte7i6ely_mondo_relaxed.owl petrous part of temporal bone inflammation|inflammation of petrous part of temporal bone|acute petrositis|chronic petrositis|inflammation of petrous bone UMLS:C0155448|ICD10:H70.20|ICD9:383.20|ICD9:383.2|MESH:D059270|ICD10:H70.22|ICD10:H70.2|ICD9:383.22|ICD10:H70.21|ICD9:383.21|ICD10:H70.219|SCTID:28593007|ICD10:H70.229|ICD10:H70.209|DOID:10755 owl:Class MONDO:0005246 biolink:NamedThing osteomyelitis An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. tmpte7i6ely_mondo_relaxed.owl osteomyelitis|osteomyelitis (disease) osteomyelitis (disease) ICD9:730.01|ICD9:730.94|ICD9:730.93|GARD:0007286|UMLS:C0029443|ICD9:730.10|ICD9:730.20|EFO:0003102|ICD9:730.97|ICD9:730.96|MESH:D010019|ICD9:730.11|ICD9:730.28|DOID:1019|ICD9:730.0|NCIT:C27577|ICD9:730.1|SCTID:60168000|ICD9:730.92|HP:0002754 owl:Class UBERON:0017648 biolink:NamedThing ventral body wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000309 biolink:NamedThing body wall tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018543 biolink:NamedThing autosomal dominant hypocalcemia Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. tmpte7i6ely_mondo_relaxed.owl AD hypocalcemia|hypocalcemia|hypocalcemia, autosomal dominant OMIMPS:601198|Orphanet:428|ICD10:E20.8|SCTID:711152006|OMIM:615361|OMIM:601198|DOID:0090109|UMLS:CN205077|GARD:0002877 https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant owl:Class MONDO:0016390 biolink:NamedThing familial hypoparathyroidism A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. tmpte7i6ely_mondo_relaxed.owl familial isolated hypoparathyroidism|hypoparathyroidism, familial isolated|hypoparathyroidism, familial|hypoparathyroidism familial isolated|FIH SCTID:725036000|OMIM:601198|Orphanet:2238|OMIM:146200|DOID:0111387|ICD10:E20.8|GARD:0002910|UMLS:C1832648|MESH:C537156|OMIMPS:146200|OMIM:307700|OMIM:615361 owl:Class MONDO:0014754 biolink:NamedThing primary coenzyme Q10 deficiency 8 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene. tmpte7i6ely_mondo_relaxed.owl coenzyme Q10 deficiency caused by mutation in COQ7|primary coenzyme Q10 deficiency 8|COQ10D8|COQ7 coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, 8|coenzyme Q10 deficiency, primary, type 8 UMLS:C4225226|OMIM:616733|DOID:0070245 owl:Class MONDO:0018151 biolink:NamedThing coenzyme Q10 deficiency A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. tmpte7i6ely_mondo_relaxed.owl CoQ10 deficiency|coenzyme Q10 deficiency disease|CoQ10 deficiency, primary|coenzyme Q10 deficiency, primary OMIM:614651|NCIT:C142083|OMIM:614650|MESH:C564403|Orphanet:35656|SCTID:724575009|OMIM:614652|OMIM:612016|OMIMPS:607426|GARD:0010423|OMIM:607426|UMLS:C1843920|DOID:0050730|OMIM:614654|UMLS:CN229570 https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency owl:Class MONDO:0008181 biolink:NamedThing palmaris longus muscle, absence of tmpte7i6ely_mondo_relaxed.owl palmaris longus muscle, absence of OMIM:167600 owl:Class MONDO:0005836 biolink:NamedThing male reproductive organ cancer A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of Male reproductive system|malignant neoplasm of male genital organ|male genital neoplasm|malignant neoplasm of male genital organs|malignant neoplasm of the Male reproductive system|tumor of male reproductive system|malignant neoplasm of male genital organ or tract|malignant Male reproductive system neoplasm|malignant tumor of the Male reproductive system|malignant male reproductive organ neoplasm|cancer of male reproductive organ|malignant tumor of male genital organ|male reproductive system neoplasm|malignant neoplasm of male genital organ, site unspecified|malignant Male reproductive system tumor|malignant neoplasm of male reproductive organ|neoplasm of male genital organ|malignant tumor of male reproductive system|malignant tumor of Male reproductive system|male genital cancer|male reproductive organ cancer EFO:0007355|NCIT:C8561|ICD10:C63.9|SCTID:363515000|MESH:D005834|ICD10:C60-C63|ICD9:187.8|SCTID:126895004|DOID:3856|NCIT:C3054|ICD9:187.9 owl:Class MONDO:0001142 biolink:NamedThing salivary gland disorder A disease involving the saliva-secreting gland. tmpte7i6ely_mondo_relaxed.owl disease of saliva-secreting gland|saliva-secreting gland disease|salivary gland disorder|disorder of saliva-secreting gland|disease or disorder of saliva-secreting gland|salivary gland disease|non-neoplastic salivary gland disease|saliva-secreting gland disease or disorder SCTID:10890000|ICD9:527.8|NCIT:C26879|EFO:0008581|DOID:10854|MESH:D012466|UMLS:C0036093|ICD9:527.9 owl:Class HGNC:620 biolink:NamedThing APP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043458 biolink:NamedThing radiation injury Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. tmpte7i6ely_mondo_relaxed.owl syndrome, radiation|radiation sickness|radiation injury|sickness, radiation|syndromes, radiation|radiation Sicknesses|Sicknesses, radiation|injury, radiation|radiation syndrome|radiation syndromes|Injuries, radiation UMLS:C0034535|MESH:D011832 owl:Class GO:0043388 biolink:NamedThing positive regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpte7i6ely_mondo_relaxed.owl activation of DNA binding|upregulation of DNA binding|up-regulation of DNA binding|up regulation of DNA binding|stimulation of DNA binding owl:Class GO:0051101 biolink:NamedThing regulation of DNA binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010829 biolink:NamedThing negative regulation of glucose transmembrane transport Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl negative regulation of glucose transport owl:Class MONDO:0011397 biolink:NamedThing autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|ADCA-DN syndrome|ADCADN|ADCA-DN|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|autosomal dominant cerebellar ataxia, deafness and narcolepsy|autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome OMIM:604121|UMLS:CN203753|GARD:0012372|Orphanet:314404|DOID:0050968 https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy owl:Class MONDO:0020983 biolink:NamedThing myocardial rupture Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION). tmpte7i6ely_mondo_relaxed.owl Ventricular Free Wall Rupture|Free Wall Rupture, Heart|Cardiac Rupture|Cardiac Ruptures|Heart Rupture|Heart Ruptures|Rupture of heart|Myocardial Rupture|Cardiac Free Wall Rupture GARD:0010468|UMLS:C0018813|MESH:D006341 owl:Class MONDO:0005267 biolink:NamedThing heart disorder A disease involving the heart and/or pericardium. tmpte7i6ely_mondo_relaxed.owl heart/pericardial disorder|heart disorder|heart/pericardial trouble|heart/pericardial disease or disorder|disease of heart|disease or disorder of heart|heart disease or disorder|heart disease|disorder of heart/pericardium|cardiac disease|disorder of heart|heart trouble|heart/pericardial disease ICD9:429.89|DOID:114|NCIT:C3079|ICD10:I51.9|UMLS:C0018799|ICD9:V47.2|UMLS:CN236661|SCTID:56265001|MESH:D006331|UMLS:CN239852|EFO:0003777|ICD9:429.9 owl:Class GO:0046326 biolink:NamedThing positive regulation of glucose import Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpte7i6ely_mondo_relaxed.owl upregulation of glucose import|up regulation of glucose import|positive regulation of glucose uptake|activation of glucose import|up-regulation of glucose import|stimulation of glucose import owl:Class MONDO:0008196 biolink:NamedThing parastremmatic dwarfism Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. tmpte7i6ely_mondo_relaxed.owl parastremmatic dwarfism|Parastremmatic dysplasia Orphanet:2646|ICD10:Q87.1|DOID:0111539|SCTID:722210007|GARD:0004222|OMIM:168400|MESH:C537172 https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism owl:Class MONDO:0018240 biolink:NamedThing TRPV4-related bone disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227290|Orphanet:364820 owl:Class GO:0045988 biolink:NamedThing negative regulation of striated muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction. tmpte7i6ely_mondo_relaxed.owl down regulation of striated muscle contraction|downregulation of striated muscle contraction|down-regulation of striated muscle contraction|inhibition of striated muscle contraction owl:Class MONDO:0005252 biolink:NamedThing heart failure Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. tmpte7i6ely_mondo_relaxed.owl insufficiency, Cardiac|cardiac failure|heart failure|cardiac insufficiency|failure, heart EFO:0003144|ICD9:428|SCTID:84114007|MESH:D006333|ICD9:428.9|UMLS:CN236639|NCIT:C50577 owl:Class PATO:0002009 biolink:NamedThing branchiness A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0036696 biolink:NamedThing spleen neoplasm A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of spleen|tumor of spleen|spleen tumor|splenic neoplasm NCIT:C3383|GARD:0007683 owl:Class GO:0030097 biolink:NamedThing hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. tmpte7i6ely_mondo_relaxed.owl haemopoiesis|hematopoiesis|blood cell formation|blood cell biosynthesis owl:Class GO:0048534 biolink:NamedThing hematopoietic or lymphoid organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. tmpte7i6ely_mondo_relaxed.owl haematopoietic or lymphoid organ development|haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development owl:Class MONDO:0000369 biolink:NamedThing abdominal tuberculosis An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. tmpte7i6ely_mondo_relaxed.owl tuberculosis of abdomen SCTID:447330002|ICD9:014.80|DOID:0050599|UMLS:C0740652 owl:Class MONDO:0000368 biolink:NamedThing extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. tmpte7i6ely_mondo_relaxed.owl SCTID:423997002|DOID:0050598|UMLS:C0679362 owl:Class HGNC:14201 biolink:NamedThing JPH1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010876 biolink:NamedThing lipid localization Any process in which a lipid is transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl lipid localisation owl:Class GO:0033036 biolink:NamedThing macromolecule localization Any process in which a macromolecule is transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl macromolecule localisation owl:Class MONDO:0016381 biolink:NamedThing hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. tmpte7i6ely_mondo_relaxed.owl hypertrichosis lanuginosa universalis|congenital hypertrichosis lanuginosa|hypertrichosis lanuginosa congenita|hypertrichosis universalis Orphanet:2222|SCTID:201163007|OMIM:145700|ICD10:Q84.2|OMIM:307150|GARD:0002865|MESH:C538389|OMIM:145701 owl:Class UBERON:0001572 biolink:NamedThing hyoglossus muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000970 biolink:NamedThing breast lipoma A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. tmpte7i6ely_mondo_relaxed.owl lipoma of breast|breast lipoma|lipoma of the breast ICD9:214.1|SCTID:276891009|NCIT:C4647|UMLS:C0349565|DOID:10199 owl:Class CHEBI:29986 biolink:NamedThing D-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group tmpte7i6ely_mondo_relaxed.owl D-glutamic acid monoanion|hydrogen D-glutamate|(2R)-2-ammoniopentanedioate|D-glutamate(1-)|D-glutamate owl:Class MONDO:0017916 biolink:NamedThing pure or complex X-linked spastic paraplegia tmpte7i6ely_mondo_relaxed.owl Pure or complicated X-linked spastic paraplegia Orphanet:320350|ICD10:G11.4 owl:Class MONDO:0008583 biolink:NamedThing inherited torticollis A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. tmpte7i6ely_mondo_relaxed.owl congenital sternomastoid torticollis|congenital muscular torticollis|torticollis, familial|congenital wry neck|torticollis|familial torticollis|familial spasmodic torticollis|contracture of sternocleidomastoid muscle|inherited torticollis (disease)|congenital wryneck|torticollis, congenital|fibromatosis colli|congenital torticollis inherited torticollis (disease) SCTID:70070008|ICD9:723.5|GARD:0004908|NCIT:C4811|HP:0000473|OMIM:189600|SCTID:268240006|MESH:C535425 https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis owl:Class CHEBI:37325 biolink:NamedThing alloxazine tmpte7i6ely_mondo_relaxed.owl Alloxazin|alloxazine|benzo[g]pteridine-2,4(1H,3H)-dione owl:Class CHEBI:37326 biolink:NamedThing benzo[g]pteridine-2,4-dione tmpte7i6ely_mondo_relaxed.owl benzo[g]pteridine-2,4-dione owl:Class MONDO:0017347 biolink:NamedThing plasmablastic lymphoma An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone. tmpte7i6ely_mondo_relaxed.owl PLBL|Plasmablastic lymphoma|PBL ICDO:9735/3|UMLS:C3472614|ICDO:9684/3|SCTID:724648008|MESH:D000069293|ICD10:C83.3|Orphanet:289666|GARD:0012125|ONCOTREE:PLBL|NCIT:C7224|MedDRA:10065039 https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma owl:Class MONDO:0015508 biolink:NamedThing genetic parenchymatous liver disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN199641|Orphanet:156604 owl:Class MONDO:0024562 biolink:NamedThing sick sinus syndrome 1 Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene. tmpte7i6ely_mondo_relaxed.owl SSS1|sick sinus syndrome 1|sinus node disease, familial, autosomal recessive|sinus bradycardia syndrome, familial|SCN5A sick sinus syndrome|sinus rhythm, congenital absence of|sick sinus syndrome, congenital|sick sinus syndrome caused by mutation in SCN5A OMIM:608567|Orphanet:166282 owl:Class MONDO:0012061 biolink:NamedThing familial sick sinus syndrome Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. tmpte7i6ely_mondo_relaxed.owl sick sinus syndrome 1, autosomal recessive|SSS1|hereditary sick sinus syndrome|familial sinus node dysfunction OMIM:163800|Orphanet:166282|OMIM:182190|OMIM:614090|ICD10:I49.5|MedDRA:10040639|SCTID:233913007|MESH:C563907|OMIM:608567|MESH:D012804|OMIMPS:608567 owl:Class UBERON:0004105 biolink:NamedThing subungual region tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019901 biolink:NamedThing protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019900 biolink:NamedThing kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004063 biolink:NamedThing intermediate cell type iris melanoma Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpte7i6ely_mondo_relaxed.owl iris intermediate cell type uveal melanoma|iris mixed cell melanoma|Intermediate cell type iris melanoma|intermediate cell type uveal melanoma of iris UMLS:C1334210|NCIT:C6101|DOID:6993 owl:Class UBERON:0035546 biolink:NamedThing uveal vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003823 biolink:NamedThing hindlimb zeugopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002471 biolink:NamedThing zeugopod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001035 biolink:NamedThing hypopyon ulcer tmpte7i6ely_mondo_relaxed.owl ICD9:370.04|SCTID:6395007|ICD10:H16.03|UMLS:C0155070|DOID:10442 owl:Class MONDO:0001036 biolink:NamedThing hypopyon An accumulation of pus in the anterior chamber of the eye. tmpte7i6ely_mondo_relaxed.owl NCIT:C50593|UMLS:C0020641|ICD9:364.05|SCTID:87807004|ICD10:H20.05|DOID:10443 owl:Class GO:0016755 biolink:NamedThing aminoacyltransferase activity Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl transferase activity, transferring amino-acyl groups|aminoacyltransferase activity owl:Class GO:0140096 biolink:NamedThing catalytic activity, acting on a protein Catalytic activity that acts to modify a protein. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007240 biolink:NamedThing progressive familial heart block, type 1A An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. tmpte7i6ely_mondo_relaxed.owl Lenegre's disease|progressive familial heart block type 1A|hereditary bundle branch system defect|heart block, progressive familial, type 1|Lenegre-Lev disease|progressive familial heart block type IA|heart block, nonprogressive|SCN5A progressive familial heart block|heart block progressive familial type 1|Lev disease|Lenegre disease|progressive familial heart block, type IA|Cardiac conduction defect, nonprogressive|PFHB1A|Lenegre's syndrome|Cardiac conduction defect, progressive|progressive familial heart block caused by mutation in SCN5A Orphanet:871|NCIT:C126651|MESH:D002037|OMIM:113900|EFO:0004138|DOID:0111074|GARD:0001093 Editor note: consider separating aquired and inherited owl:Class MONDO:0005449 biolink:NamedThing conduction system disorder A disease involving the conducting system of heart. tmpte7i6ely_mondo_relaxed.owl disease or disorder of conducting system of heart|disease of conducting system of heart|conducting system of heart disease or disorder|conducting system of heart disease|disorder of conducting system of heart EFO:0005137 owl:Class HGNC:11139 biolink:NamedThing SNCAIP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020665 biolink:NamedThing high grade malignant neoplasm tmpte7i6ely_mondo_relaxed.owl high grade malignant neoplasm NCIT:C36046 owl:Class MONDO:0001802 biolink:NamedThing acute tympanitis tmpte7i6ely_mondo_relaxed.owl acute myringitis UMLS:C0155460|ICD10:H73.009|ICD9:384.00|ICD10:H73.00|DOID:13790|ICD10:H73.0|SCTID:297009 owl:Class MONDO:0024616 biolink:NamedThing tympanitis An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane. tmpte7i6ely_mondo_relaxed.owl tympanic membrane inflammation|myringitis|inflammation of tympanic membrane UMLS:C0027134|SCTID:14852000 owl:Class UBERON:0010541 biolink:NamedThing tarsus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005863 biolink:NamedThing cartilaginous condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022057 biolink:NamedThing calcifying epithelial odontogenic tumor A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases. tmpte7i6ely_mondo_relaxed.owl calcifying epithelial odontogenic tumor|CEOT|Pindborg tumor MESH:C537961|UMLS:C0334574|GARD:0006256|NCIT:C54301|ICDO:9340/0 https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor owl:Class MONDO:0021192 biolink:NamedThing odontogenic neoplasm A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. tmpte7i6ely_mondo_relaxed.owl calcareous tooth neoplasm|calcareous tooth tumor|odontogenic neoplasm|tumor of calcareous tooth|odontogenic tumor|calcareous tooth neoplasm (disease)|neoplasm of calcareous tooth MESH:D009808|UMLS:C0028880|NCIT:C3286|ICDO:9270/1 owl:Class MONDO:0021075 biolink:NamedThing neoplastic polyp tmpte7i6ely_mondo_relaxed.owl neoplastic polyp NCIT:C7068|UMLS:C1334941 owl:Class MONDO:0018597 biolink:NamedThing plastic bronchitis A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe. tmpte7i6ely_mondo_relaxed.owl fibrinous bronchitis|pseudo-membranous bronchitis|croupous bronchitis SCTID:53926002|Orphanet:439881|UMLS:C0264342 owl:Class MONDO:0006487 biolink:NamedThing vaginal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present. tmpte7i6ely_mondo_relaxed.owl vaginal adenoid cystic cancer|vaginal adenoid cystic carcinoma NCIT:C40261|UMLS:C1519912|EFO:1000617 owl:Class MONDO:0024275 biolink:NamedThing amebic dysentery Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. tmpte7i6ely_mondo_relaxed.owl Entamoebiases, intestinal|intestinal Entamoebiases|amebic dysenteries|dysenteries, amebic|amoebiasis, intestinal|Colitides, amebic|amoebic colitis|amebic colitis|intestinal Amebiases|amoebic dysentery due to Entamoeba histolytica|Amebiases, intestinal|dysentery, amoebic|amoebic dysentery|colitis, amebic|intestinal amoebiasis|amoebic Colitides|colitis, amoebic|amoebic dysenteries|amoebiases, intestinal|amebic colitides|entamoebiasis, intestinal|intestinal amebiasis|intestinal Amoebiases|intestinal entamoebiasis|dysenteries, amoebic|amoebiasis due to Entamoeba histolytica|amebic dysentery|amebiasis, intestinal|Colitides, amoebic NCIT:C34558|GARD:0000652|MESH:D004404 owl:Class MONDO:0005644 biolink:NamedThing amebiasis A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. tmpte7i6ely_mondo_relaxed.owl amoebiasis|entamoebiasis|chronic intestinal amebiasis ICD9:006.9|ICD10:A06.9|DOID:9181|EFO:0007144|ICD9:006|ICD10:A06|UMLS:C0002438|MESH:D000562|NCIT:C84551 owl:Class MONDO:0012585 biolink:NamedThing coronary heart disease, susceptibility to, 7 Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene. tmpte7i6ely_mondo_relaxed.owl CHDS7|susceptibility to coronary heart disease 7|coronary artery disease caused by mutation in CD36|CD36 coronary artery disease|coronary heart disease, susceptibility to, type 7|coronary heart disease, susceptibility to, 7 OMIM:610938 owl:Class MONDO:0021663 biolink:NamedThing sarcomatoid squamous cell carcinoma A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features. tmpte7i6ely_mondo_relaxed.owl epidermoid spindle cell carcinoma|sarcomatoid squamous cell carcinoma|squamous cell carcinoma, spindle cell|spindle cell (sarcomatoid) squamous cell carcinoma|squamous cell spindle cell carcinoma|squamous cell carcinoma, sarcomatoid NCIT:C27084|SCTID:403900000|ICDO:8074/3|ICD9:199.1 owl:Class UBERON:0006921 biolink:NamedThing stomach squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004250 biolink:NamedThing upper arm bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003243 biolink:NamedThing hepatocellular clear cell carcinoma A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells. tmpte7i6ely_mondo_relaxed.owl clear cell hepatocellular carcinoma|hepatocellular clear cell carcinoma|clear cell carcinoma of liver cells|clear cell hepatocellular cancer|liver cell clear cell carcinoma|clear cell carcinoma of the liver cells NCIT:C5754|ICDO:8174/3|DOID:5016|UMLS:C1333067 owl:Class MONDO:0020606 biolink:NamedThing sex-linked disease tmpte7i6ely_mondo_relaxed.owl sex-linked hereditary disorder ICD9:758.81|SCTID:82852009 owl:Class GO:0050976 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of touch The series of events involved in the perception of touch in which a mechanical stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl tactition, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of touch|perception of touch, sensory detection of mechanical stimulus|perception of touch, sensory transduction of mechanical stimulus|sensory detection of mechanical stimulus during perception of touch|perception of touch, detection of mechanical stimulus owl:Class GO:0050974 biolink:NamedThing detection of mechanical stimulus involved in sensory perception The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception. tmpte7i6ely_mondo_relaxed.owl sensory transduction of mechanical stimulus|sensory perception, sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during sensory perception|sensory detection of mechanical stimulus during sensory perception|sensory perception, sensory detection of mechanical stimulus|sensory detection of mechanical stimulus owl:Class HGNC:35126 biolink:NamedThing BHLHA9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006595 biolink:NamedThing presumptive endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000820 biolink:NamedThing B-1a B cell A B-1 B cell that has the phenotype CD5-positive. tmpte7i6ely_mondo_relaxed.owl CD5-positive B1 cell|B-1a B-cell|B-1a B lymphocyte|B1a cell|B1a B cell|CD5(+) B1 cell|B1a B-lymphocyte|CD5+ B1 cell|B1a B-cell|B-1a B-lymphocyte|B1a B lymphocyte cell owl:Class CL:0000819 biolink:NamedThing B-1 B cell A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive. tmpte7i6ely_mondo_relaxed.owl B1 cell|B-1 B-cell|B1 B-cell|B1 B lymphocyte|B1 B cell|B-1 cell|B-1 B lymphocyte|B1 B-lymphocyte|B-1 B-lymphocyte There are small numbers of B-1 cells found in the lymph nodes and spleen, while larger numbers can be found in the peritoneal and pleural cavities. B-1 B cells are reportedly CD11b-positive, CD20-positive, CD21-positive, CD27-positive, CD44-positive, CD45RB-positive, CD48-positive, CD70-negative, CD150-positive, CD244-negative, CD352-positive, sIgM-positive, and sIgD-low. cell owl:Class MONDO:0014439 biolink:NamedThing Bardet-Biedl syndrome 11 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome type 11|TRIM32 Bardet-Biedl syndrome|BBS11|Bardet-Biedl syndrome caused by mutation in TRIM32|Bardet-Biedl syndrome 11 DOID:0110133|GARD:0010210|ICD10:Q87.89|OMIM:615988|MESH:C565920|UMLS:C1859569 owl:Class MONDO:0005118 biolink:NamedThing human granulocytic ehrlichiosis A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. tmpte7i6ely_mondo_relaxed.owl infection by Anaplasma phagocytophilum|human granulocytic ehrlichiosis|human ehrlichial infection, human granulocytic type|human granulocytic anaplasmosis|human anaplasmosis caused by Anaplasma phagocytophilum|HGE|human anaplasmosis due to Anaplasma phagocytophilum ICD9:082.49|EFO:0000777|SCTID:85708001|DOID:0050025|GARD:0000071 owl:Class UBERON:0006003 biolink:NamedThing integumentary adnexa tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903018 biolink:NamedThing regulation of glycoprotein metabolic process Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of glycoprotein metabolism owl:Class GO:0002429 biolink:NamedThing immune response-activating cell surface receptor signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of a cell capable of activating or perpetuating an immune response. tmpte7i6ely_mondo_relaxed.owl activation of immune response by cell surface receptor signaling pathway|immune response-activating cell surface receptor signalling pathway owl:Class GO:0002768 biolink:NamedThing immune response-regulating cell surface receptor signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response. tmpte7i6ely_mondo_relaxed.owl immune response-regulating cell surface receptor signalling pathway owl:Class UBERON:0014719 biolink:NamedThing intralobular duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000058 biolink:NamedThing duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000781 biolink:NamedThing chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). tmpte7i6ely_mondo_relaxed.owl nuclear chromosome, telomere|telomere|nuclear chromosome, telomeric region owl:Class MONDO:0014051 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene. tmpte7i6ely_mondo_relaxed.owl cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|fatal infantile encephalocardiomyopathy caused by mutation in COX15|COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|CEMCOX2 OMIM:615119|Orphanet:1561|UMLS:C3554534|DOID:0080358 owl:Class MONDO:0015487 biolink:NamedThing fatal infantile encephalocardiomyopathy Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. tmpte7i6ely_mondo_relaxed.owl cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|fatal infantile cytochrome C oxidase deficiency|fatal infantile COX deficiency|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|fatal infantile encephalomyopathy GARD:0001113|OMIM:616501|DOID:0050713|SCTID:718124006|OMIM:604377|OMIM:615119|ICD10:G71.3|OMIM:616500|Orphanet:1561 Editor note: check GARD xref https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy owl:Class CL:0000187 biolink:NamedThing muscle cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpte7i6ely_mondo_relaxed.owl myocyte|muscle fiber BTO:0000902|FBbt:00005074|CALOHA:TS-2032|WBbt:0003675|FMA:67328|BTO:0000888 cell owl:Class GO:0032890 biolink:NamedThing regulation of organic acid transport Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016917 biolink:NamedThing partial deletion of the long arm of chromosome 19 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 19q|partial monosomy of the long arm of chromosome 19|partial deletion of chromosome 19q|partial deletion of the long arm of chromosome type 19 ICD10:Q93.5|Orphanet:262155 owl:Class MONDO:0016881 biolink:NamedThing partial deletion of chromosome 19 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 19|partial monosomy of chromosome 19 ICD10:Q93.5|Orphanet:261841 owl:Class MONDO:0009450 biolink:NamedThing ciliary dyskinesia with excessively long cilia tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia with excessively long cilia|immotile cilia syndrome due to excessively long cilia GARD:0002982|ICD9:759.89|Orphanet:244|OMIM:242680|SCTID:233665006|MESH:C536287 https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia owl:Class MONDO:0014530 biolink:NamedThing autosomal recessive spinocerebellar ataxia 18 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 18|spinocerebellar ataxia, autosomal recessive type 18|autosomal recessive spinocerebellar ataxia type 18|SCAR18|GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Orphanet:363432|Orphanet:363429|OMIM:616204|ICD10:G11.1|UMLS:C4015505|DOID:0080042 owl:Class MONDO:0018189 biolink:NamedThing autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. tmpte7i6ely_mondo_relaxed.owl Orphanet:363429|OMIM:616204|ICD10:G11.1|OMIM:614831|UMLS:CN204693 owl:Class CHEBI:33318 biolink:NamedThing main group element atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. tmpte7i6ely_mondo_relaxed.owl main group element|main group elements|Hauptgruppenelemente|Hauptgruppenelement owl:Class CHEBI:33250 biolink:NamedThing atom A chemical entity constituting the smallest component of an element having the chemical properties of the element. tmpte7i6ely_mondo_relaxed.owl atoms|element|elements|atomo|atome|atomus|atom owl:Class MONDO:0017528 biolink:NamedThing polydactyly of an index finger, bilateral tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly type 3, bilateral ICD10:Q69.0|UMLS:CN203259|Orphanet:295154 owl:Class MONDO:0008271 biolink:NamedThing polydactyly of an index finger Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. tmpte7i6ely_mondo_relaxed.owl index finger polydactyly|preaxial polydactyly type 3|PPD3|polydactyly, preaxial III|polydactyly, preaxial type 3|polydactyly, preaxial 3 MESH:C566784|UMLS:C1868113|GARD:0002256|Orphanet:93337|ICD10:Q69.0|OMIM:174600|SCTID:723446006 owl:Class MONDO:0021462 biolink:NamedThing benign neoplasm of rectum A benign neoplasm that involves the rectum. tmpte7i6ely_mondo_relaxed.owl benign rectal tumors|rectal neoplasms, benign|rectal tumors, benign|benign tumor of the rectum|benign rectal neoplasms|benign tumor of rectum|benign rectal tumor|benign neoplasm of the rectum|benign rectal neoplasm|rectum benign neoplasm NCIT:C4774|SCTID:92318000|ICD10:D12.8|UMLS:C0496867 owl:Class MONDO:0021444 biolink:NamedThing benign neoplasm of large intestine A benign neoplasm that involves the large intestine. tmpte7i6ely_mondo_relaxed.owl benign colorectal neoplasm|benign neoplasm of the large bowel|benign colorectal tumor|neoplasms, colorectal, benign|colorectal neoplasms, benign|benign neoplasm of large bowel|benign large bowel tumor|colorectal tumors, benign|benign large bowel neoplasm|benign tumor of large bowel|benign large intestine tumor|large intestine benign neoplasm|benign tumor of large intestine|benign neoplasm of the large intestine|benign colorectal tumors|benign large intestine neoplasm|benign colorectal neoplasms|tumors, colorectal, benign|benign tumor of the large intestine|benign tumor of the large bowel SCTID:92170008|NCIT:C4610|UMLS:C0347272 owl:Class UBERON:0014671 biolink:NamedThing distal interphalangeal joint of manural digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014680 biolink:NamedThing distal interphalangeal joint of digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013561 biolink:NamedThing chondrodysplasia with joint dislocations, gPAPP type tmpte7i6ely_mondo_relaxed.owl chondrodysplasia with joint dislocations, gPAPP type|gPAPP deficiency GARD:0011009|UMLS:C3279757|Orphanet:280586|OMIM:614078 owl:Class MONDO:0012637 biolink:NamedThing COG1-CDG COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl CDG IIg|CDG syndrome type IIg|carbohydrate deficient glycoprotein syndrome type IIg|COG1-CDG (CDG-IIg)|CDG2G|COG1-CDG|congenital disorder of glycosylation type 2g|congenital disorder of glycosylation type IIg|congenital disorder of glycosylation, type IIg|CDG-IIg|Cdgii/Cog1 Cerebrocostomandibular-like syndrome|CDG 2G Orphanet:263508|GARD:0010226|MESH:C535756|DOID:0070259|ICD10:E77.8|SCTID:718750004|OMIM:611209 owl:Class GO:0070094 biolink:NamedThing positive regulation of glucagon secretion Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon. tmpte7i6ely_mondo_relaxed.owl activation of glucagon secretion|up regulation of glucagon secretion|stimulation of glucagon secretion|upregulation of glucagon secretion|up-regulation of glucagon secretion owl:Class GO:0046887 biolink:NamedThing positive regulation of hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. tmpte7i6ely_mondo_relaxed.owl upregulation of hormone secretion|up-regulation of hormone secretion|up regulation of hormone secretion|activation of hormone secretion|stimulation of hormone secretion owl:Class MONDO:0000066 biolink:NamedThing mitochondrial complex deficiency tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000102 biolink:NamedThing 8-year-old human stage Child stage that refers to a child who is over 8 and under 9 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001956 biolink:NamedThing capillary leak syndrome A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. tmpte7i6ely_mondo_relaxed.owl SCLS|acute vascular leak syndrome|Clarkson disease|idiopathic capillary leak syndrome|CLS|capillary hyperpermeability syndrome|capillary leak syndrome|periodic systemic capillary leak syndrome|AVLS|systemic capillary leak syndrome|capillary leak syndrome with monoclonal gammopathy MESH:D019559|MedDRA:10007196|UMLS:C0343084|Orphanet:188|ICD9:448.9|DOID:14400|NCIT:C62578|ICD10:I78.8|SCTID:87730004|GARD:0001084 owl:Class MONDO:0001574 biolink:NamedThing capillary disorder A disease involving a capillary. tmpte7i6ely_mondo_relaxed.owl disease of capillaries|disease of capillary|disorder of capillary|disease or disorder of capillary|capillary disease or disorder|capillary disease ICD9:448|ICD9:448.9|ICD10:I78|ICD10:I78.9|DOID:1271|SCTID:58729003|UMLS:C0155765 owl:Class GO:0002654 biolink:NamedThing positive regulation of tolerance induction dependent upon immune response Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpte7i6ely_mondo_relaxed.owl upregulation of tolerance induction dependent upon immune response|stimulation of tolerance induction dependent upon immune response|up regulation of tolerance induction dependent upon immune response|activation of tolerance induction dependent upon immune response|positive regulation of immune response-dependent tolerance induction|up-regulation of tolerance induction dependent upon immune response owl:Class GO:0002652 biolink:NamedThing regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpte7i6ely_mondo_relaxed.owl regulation of immune response-dependent tolerance induction owl:Class GO:0051967 biolink:NamedThing negative regulation of synaptic transmission, glutamatergic Any process that stops, prevents, or reduces the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpte7i6ely_mondo_relaxed.owl inhibition of synaptic transmission, glutamatergic|down-regulation of synaptic transmission, glutamatergic|down regulation of synaptic transmission, glutamatergic|downregulation of synaptic transmission, glutamatergic owl:Class UBERON:0009722 biolink:NamedThing entire pharyngeal arch endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007832 biolink:NamedThing pelvic girdle skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043789 biolink:NamedThing serum sickness Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. tmpte7i6ely_mondo_relaxed.owl serum Sicknesses|transfusion reaction due to serum protein reaction|serum sickness|serum reaction|protein sickness|sickness, serum|intoxication by serum|Sicknesses, serum MESH:D012713|NCIT:C79718|UMLS:C0036830|EFO:1001845|SCTID:72284000 owl:Class MONDO:0009064 biolink:NamedThing ocular cystinosis Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. tmpte7i6ely_mondo_relaxed.owl cystinosis, benign Nonnephropathic|cystinosis, ocular Nonnephropathic|adult-onset cystinosis|non-nephropathic cystinosis|ocular cystinosis|cystinosis, ADULT NONNEPHROPATHIC Orphanet:411641|UMLS:C2931013|MESH:C535765|ICD10:E72.0|OMIM:219750|Orphanet:213 owl:Class MONDO:0016730 biolink:NamedThing gangliocytoma A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells. tmpte7i6ely_mondo_relaxed.owl GNC UMLS:C0017075|GARD:0010638|UMLS:CN201978|Orphanet:251937|ICD10:D36.1|NCIT:C6934|SCTID:116371000119107|ONCOTREE:GNC|DOID:2426|ICDO:9492/0|MESH:D005729 https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma owl:Class MONDO:0002205 biolink:NamedThing vulvar melanoma A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. tmpte7i6ely_mondo_relaxed.owl mammalian vulva melanoma (disease)|mammalian vulva melanoma|malignant melanoma of vulva|vulvar melanoma|melanoma (disease) of mammalian vulva|vulvar melanoma (disease) vulvar melanoma (disease) DOID:2093|SCTID:254896002|UMLS:C0241989|NCIT:C40329|HP:0030418 owl:Class MONDO:0006320 biolink:NamedThing non-cutaneous melanoma Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) tmpte7i6ely_mondo_relaxed.owl non-cutaneous melanoma|extracutaneous melanoma NCIT:C8711|EFO:1000397|UMLS:C1334974 owl:Class UBERON:0001833 biolink:NamedThing lip tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003102 biolink:NamedThing surface structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015324 biolink:NamedThing cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. tmpte7i6ely_mondo_relaxed.owl Karandikar-Maria-Kamble syndrome|cataract mental retardation anal atresia urinary defects|cataract intellectual disability anal atresia urinary defects|Karandikar Maria Kamble syndrome|congenital cataract with multiple congenital anomalies in a sibship ICD10:Q87.8|MESH:C537009|Orphanet:1381|GARD:0000192|UMLS:C2931391|SCTID:715989002 owl:Class MONDO:0011106 biolink:NamedThing facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. tmpte7i6ely_mondo_relaxed.owl facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|FDLAB syndrome|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs|FDLAB|ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome|Traboulsi syndrome OMIM:601552|UMLS:C1832167|Orphanet:412022|ICD10:Q87.0|MESH:C563293 owl:Class MONDO:0003111 biolink:NamedThing gastric neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl stomach neuroendocrine tumor, well differentiated, low or intermediate grade|stomach NET|neuroendocrine tumor of the stomach|gastric neuroendocrine neoplasm|stomach neuroendocrine tumor|neuroendocrine neoplasm of stomach|stomach neuroendocrine neoplasm|neuroendocrine neoplasm of the stomach|NET of stomach|neuroendocrine tumor of stomach SCTID:721194008|Orphanet:100075|UMLS:C1333783|DOID:4715|NCIT:C5696 owl:Class GO:0006206 biolink:NamedThing pyrimidine nucleobase metabolic process The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. tmpte7i6ely_mondo_relaxed.owl pyrimidine base metabolic process|pyrimidine metabolism|pyrimidine metabolic process|pyrimidine base metabolism owl:Class CL:0002148 biolink:NamedThing dental pulp cell A cell found within the dental pulp. tmpte7i6ely_mondo_relaxed.owl FMA:87170|CALOHA:TS-0195|BTO:0000339 tmeehan 2010-08-24T02:52:09Z cell owl:Class CL:1000481 biolink:NamedThing transitional myocyte of atrioventricular bundle A transitional myocyte that is part of the atrioventricular bundle. tmpte7i6ely_mondo_relaxed.owl FMA:83388|FMA:83885 cell owl:Class CL:0010005 biolink:NamedThing atrioventricular bundle cell A specialized cardiomyocyte that transmit signals from the AV node to the cardiac Purkinje fibers. tmpte7i6ely_mondo_relaxed.owl AV bundle cell owl:Class HGNC:93 biolink:NamedThing ACAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007035 biolink:NamedThing acanthosis nigricans A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. tmpte7i6ely_mondo_relaxed.owl acanthosis nigricans (disease)|acanthosis nigricans|an - acanthosis nigricans|keratosis nigricans acanthosis nigricans (disease) MESH:D000052|Orphanet:924|ICD10:L83|SCTID:402599005|DOID:3138|EFO:1000660|UMLS:C0000889|HP:0000956|Wikipedia:Acanthosis_nigricans|NCIT:C26687|OMIM:200170 owl:Class MONDO:0003480 biolink:NamedThing pineal region dysgerminoma A dysgerminoma (disease) that involves the pineal body. tmpte7i6ely_mondo_relaxed.owl pineal region dysgerminoma|pineal body dysgerminoma (disease)|pineal dysgerminoma DOID:5510|NCIT:C7169|UMLS:C1335415 owl:Class MONDO:0003002 biolink:NamedThing dysgerminoma A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. tmpte7i6ely_mondo_relaxed.owl dysgerminoma (disease)|dysgerminoma, malignant|dysgerminoma dysgerminoma (disease) DOID:4441|HP:0100621|NCIT:C2996|MESH:D004407|ICDO:9060/3|UMLS:C0013377 owl:Class MONDO:0006789 biolink:NamedThing hyperamylasemia Abnormally high level of amylase in the blood. tmpte7i6ely_mondo_relaxed.owl MedDRA:10062777|MESH:D034321|EFO:1000969|NCIT:C113755 owl:Class MONDO:0017570 biolink:NamedThing leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. tmpte7i6ely_mondo_relaxed.owl congenital leukocyte adherence deficiency|LAD ICD10:D84.8|Orphanet:2968|UMLS:C0398738|GARD:0009544|OMIM:266265|UMLS:C0272187|OMIM:116920|NCIT:C27874|DOID:6612|OMIM:612840|SCTID:77358003 owl:Class MONDO:0009041 biolink:NamedThing craniosynostosis-intellectual disability-clefting syndrome A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. tmpte7i6ely_mondo_relaxed.owl craniosynostosis mental retardation clefting syndrome|craniosynostosis-intellectual disability-clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|Baraitser Rodeck garner syndrome|craniosynostosis intellectual disability clefting syndrome|craniosynostosis-mental retardation-clefting syndrome|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose MESH:C537906|UMLS:C2931663|UMLS:C1857472|MESH:C565663|GARD:0000817|GARD:0001599|OMIM:218650 owl:Class MONDO:0011462 biolink:NamedThing pyogenic arthritis-pyoderma gangrenosum-acne syndrome A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. tmpte7i6ely_mondo_relaxed.owl pyogenic arthritis, pyoderma gangrenosum and acne|fra|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|papa syndrome|papa|Papas|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|familial recurrent arthritis NCIT:C119055|Orphanet:69126|OMIM:604416|UMLS:C1858361|DOID:0080519|GARD:0009176|MESH:C536253|SCTID:724015007 owl:Class MONDO:0017954 biolink:NamedThing pyogenic autoinflammatory syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN204100|Orphanet:324927 owl:Class MONDO:0016056 biolink:NamedThing isolated congenital microcephaly tmpte7i6ely_mondo_relaxed.owl true microcephaly|microcephaly, primary|primary microcephaly ICD10:Q02|MedDRA:10027534|GARD:0007038|DOID:0070297|Orphanet:199642 Editor note: check alignment with DO class owl:Class MONDO:0010549 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type X caused by mutation in GJB1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|CMTX1|Charcot Marie Tooth disease X-linked 1|Charcot-Marie-Tooth disease, X-linked dominant, 1|X-linked Charcot-Marie-Tooth disease type 1|CMTX 1|GJB1 Charcot-Marie-Tooth disease type X|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth disease X-linked dominant type 1|CMT2|Charcot-Marie-Tooth disease X-linked dominant 1|CMT1X|Charcot-Marie-Tooth disease, X-linked dominant, type 1|CMT2, formerly|Charcot-Marie-Tooth neuropathy X-linked dominant 1|Charcot-Marie-Tooth disease, X-linked, 1|hereditary motor and sensory neuropathy, X-linked|CMTX|HMSN, X-linked|Charcot-Marie-Tooth neuropathy, X-linked, 1 GARD:0001258|ICD10:G60.0|OMIM:302800|SCTID:763455008|Orphanet:101075|DOID:0110209|NCIT:C129068|UMLS:C0393808 owl:Class MONDO:0011129 biolink:NamedThing glaucoma type 1C tmpte7i6ely_mondo_relaxed.owl GLC1C|glaucoma 1, primary open angle, C UMLS:C1866483|OMIM:601682|GARD:0002484 https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c owl:Class HGNC:23159 biolink:NamedThing ALG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010478 biolink:NamedThing SLC35A2-CDG SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation, type IIm|CDG syndrome type IIm|epileptic encephalopathy, early infantile, 22; EIEE22|SLC35A2-CDG|epileptic encephalopathy, early infantile, 22|EIEE22|congenital disorder of glycosylation type IIm|congenital disorder of glycosylation type 2m|CDG IIm|CDG2M|CDG-IIm DOID:0070265|OMIM:300896|Orphanet:356961|ICD10:E77.8|UMLS:C3806688|GARD:0012403 https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg owl:Class GO:1901615 biolink:NamedThing organic hydroxy compound metabolic process The chemical reactions and pathways involving organic hydroxy compound. tmpte7i6ely_mondo_relaxed.owl organic hydroxy compound metabolism owl:Class MONDO:0008263 biolink:NamedThing polycystic kidney disease 1 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease 1|PKD1|autosomal dominant polycystic kidney disease caused by mutation in PKD1|polycystic kidney disease type 1|PKD1 autosomal dominant polycystic kidney disease|polycystic kidney disease, adult, type 1|APKD1|polycystic kidney disease 1 with or without polycystic liver disease|polycystic kidney disease, adult|Potter type 3 polycystic kidney disease, formerly|Potter type 3 polycystic kidney disease|polycystic kidney disease, adult, type I OMIM:173900|UMLS:C3149841|MESH:C536326|DOID:0110858|SCTID:253878003|Orphanet:730 owl:Class GO:0033120 biolink:NamedThing positive regulation of RNA splicing Any process that activates or increases the frequency, rate or extent of RNA splicing. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043484 biolink:NamedThing regulation of RNA splicing Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002132 biolink:NamedThing skull cancer A malignant neoplasm involving the skull. tmpte7i6ely_mondo_relaxed.owl skull cancer|malignant skull neoplasm|malignant neoplasm of skull|cancer of skull NCIT:C3375|DOID:1863 owl:Class MONDO:0010058 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal recessive tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, scapuloperoneal UMLS:CN074295|OMIM:271220 owl:Class GO:0031643 biolink:NamedThing positive regulation of myelination Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpte7i6ely_mondo_relaxed.owl activation of myelination|stimulation of myelination|up-regulation of myelination|upregulation of myelination|up regulation of myelination owl:Class MONDO:0044684 biolink:NamedThing tuberculous meningitis tmpte7i6ely_mondo_relaxed.owl TBM|tubercular meningitis 2022-05-01 Orphanet:499004|SCTID:58437007 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0003619 biolink:NamedThing salpingitis Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpte7i6ely_mondo_relaxed.owl fallopian tube inflammation|inflammation of fallopian tube DOID:5733|UMLS:C0036130|MESH:D012488|SCTID:88157006|NCIT:C26880|ICD10:N70.91 owl:Class GO:0031642 biolink:NamedThing negative regulation of myelination Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpte7i6ely_mondo_relaxed.owl down regulation of myelination|down-regulation of myelination|downregulation of myelination|inhibition of myelination owl:Class GO:0007617 biolink:NamedThing mating behavior The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. tmpte7i6ely_mondo_relaxed.owl mating behaviour owl:Class GO:0019098 biolink:NamedThing reproductive behavior The specific behavior of an organism that is associated with reproduction. tmpte7i6ely_mondo_relaxed.owl reproductive behavior in a multicellular organism|multicellular organism reproductive behavior|single-organism reproductive behavior|reproductive behaviour|multi-organism reproductive behavior owl:Class MONDO:0019384 biolink:NamedThing encephalitis lethargica A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache. tmpte7i6ely_mondo_relaxed.owl von Economo's disease|von Economo disease|lethargic encephalitis|Von Economo’s disease|epidemic encephalitis|Von Economo encephalitis|encephalitis lethargica NCIT:C26761|GARD:0006332|ICD10:A85.8|DOID:5225|Orphanet:83600|NCIT:C34576|MedDRA:10052369|SCTID:186499007|ICD9:049.8|UMLS:C0014040 https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica owl:Class MONDO:0020068 biolink:NamedThing postinfectious encephalitis tmpte7i6ely_mondo_relaxed.owl ICD9:323.6|UMLS:C0393459|SCTID:192727001|MedDRA:10057235|Orphanet:98253 owl:Class UBERON:0001238 biolink:NamedThing lamina propria of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004780 biolink:NamedThing gastrointestinal system lamina propria tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012756 biolink:NamedThing proximal 16p11.2 microdeletion syndrome A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. tmpte7i6ely_mondo_relaxed.owl proximal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome, 593-KB|16p11.2 deletion syndrome|autism, susceptibility to, 14A|proximal monosomy 16p11.2|monosomy 16p11.2|microdeletion 16p11.2|chromosome 16p11.2 deletion syndrome|Del(16)(p11.2) Orphanet:261197|MESH:C579850|UMLS:CN202166|NCIT:C120408|SCTID:699307007|OMIM:611913|ICD9:758.39|GARD:0010740|SCTID:718227006|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome owl:Class MONDO:0016894 biolink:NamedThing partial deletion of the short arm of chromosome 16 tmpte7i6ely_mondo_relaxed.owl partial deletion of the short arm of chromosome type 16|partial monosomy of chromosome 16p|partial deletion of chromosome 16p|partial monosomy of the short arm of chromosome 16 Orphanet:261956|ICD10:Q93.5 owl:Class MONDO:0015228 biolink:NamedThing pentasomy X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). tmpte7i6ely_mondo_relaxed.owl poly-X|49,XXXXX syndrome|49, XXXXX syndrome|Pentasomy type X|chromosome X pentasomy|Pentasomy X syndrome|penta-X|XXXXX syndrome|penta X syndrome|chromosome XXXXX syndrome|penta-X syndrome UMLS:C0265497|ICD10:Q97.1|GARD:0005678|MESH:C535319|NCIT:C89802|SCTID:43248007|Orphanet:11 owl:Class MONDO:0019074 biolink:NamedThing bilateral acute depigmentation of the iris Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. tmpte7i6ely_mondo_relaxed.owl BADI Orphanet:69736|SCTID:720460007 owl:Class MONDO:0011119 biolink:NamedThing iridogoniodysgenesis tmpte7i6ely_mondo_relaxed.owl IRID DOID:0050786|Orphanet:98634 Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 owl:Class GO:0009725 biolink:NamedThing response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpte7i6ely_mondo_relaxed.owl growth regulator|response to hormone stimulus owl:Class GO:0010033 biolink:NamedThing response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpte7i6ely_mondo_relaxed.owl process resulting in tolerance to organic substance owl:Class MONDO:0044791 biolink:NamedThing combined hepatocellular carcinoma and cholangiocarcinoma A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor. tmpte7i6ely_mondo_relaxed.owl Cholangiohepatoma|Hepatocholangiocarcinoma|liver and intrahepatic biliary tract carcinoma|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|carcinoma of liver and intrahepatic biliary tract|combined hepatocellular carcinoma and cholangiocarcinoma|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)|Mixed hepatocellular cholangiocarcinoma|carcinoma of the liver and intrahepatic biliary tract SCTID:274902006|Orphanet:529852|NCIT:C3828 owl:Class MONDO:0032699 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 15 tmpte7i6ely_mondo_relaxed.owl EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15|EIG15 DOID:0111316|OMIM:618357 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0015414 biolink:NamedThing paramedian nasal cleft Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. tmpte7i6ely_mondo_relaxed.owl isolated coloboma of the nose|alar rim cleft|isolated cleft of the ala nasi|cleft nose|alar cleft|Tessier number 1 cleft Orphanet:141242|ICD9:748.1|ICD10:Q18.8|SCTID:204521002 owl:Class MONDO:0015478 biolink:NamedThing paramedian facial cleft tmpte7i6ely_mondo_relaxed.owl Tessier number 1-1 and 2-12 facial cleft Orphanet:155867|ICD10:Q18.8 owl:Class UBERON:0004773 biolink:NamedThing superior eyelid tarsus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004772 biolink:NamedThing eyelid tarsus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14295 biolink:NamedThing SHANK2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26979 biolink:NamedThing organic heterotricyclic compound An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms. tmpte7i6ely_mondo_relaxed.owl heterotricyclic compounds|organic heterotricyclic compounds owl:Class CHEBI:51959 biolink:NamedThing organic tricyclic compound tmpte7i6ely_mondo_relaxed.owl organic tricyclic compounds owl:Class MONDO:0006373 biolink:NamedThing pituitary gland adenoma A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. tmpte7i6ely_mondo_relaxed.owl adenoma of pituitary|adenoma of pituitary gland|adenoma, anterior lobe pituitary gland, benign|pituitary adenoma|adenoma of the pituitary|PTAD|adenoma of the pituitary gland|pituitary gland adenoma MedDRA:10035079|EFO:1000478|Orphanet:99408|ONCOTREE:PTAD|DOID:3829|NCIT:C3329|ICDO:8272/0|UMLS:C0032000|SCTID:254956000|ICD10:D35.2 owl:Class MONDO:0017611 biolink:NamedThing pituitary tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl neoplasm of the pituitary gland|tumor of the pituitary gland|neoplasm of pituitary gland|pituitary neoplasm|tumor of pituitary|pituitary tumor|pituitary gland neoplasm|tumor of pituitary gland|tumor of the pituitary|neoplasm of pituitary|neoplasm of the pituitary|pituitary gland tumor Orphanet:304055|UMLS:C0032019|ICD9:239.7|SCTID:127024001|NCIT:C3330 owl:Class MONDO:0009677 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. tmpte7i6ely_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|severe childhood autosomal recessive muscular dystrophy North African type|Adhalin deficiency, secondary|SCARMD|severe childhood autosomal recessive muscular dystrophy, North African type|SGCG autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, Duchenne-like|DMDA1|sarcoglycan, gamma, deficiency of|limb-girdle muscular dystrophy, type 2C|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|autosomal recessive limb-girdle muscular dystrophy type 2C|deficiency of sarcoglycan gamma|gamma-sarcoglycanopathy|LGMD2C|autosomal recessive Duchenne-like muscular dystrophy type 1|Dmda|muscular dystrophy, limb-girdle, type 2C|Maghrebian myopathy|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|Duchenne-like muscular dystrophy, autosomal recessive, type 1 UMLS:C0410173|DOID:0110277|OMIM:253700|Orphanet:353|ICD10:G71.0|MESH:C535900|GARD:0002429 owl:Class MONDO:0007036 biolink:NamedThing Achard syndrome A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. tmpte7i6ely_mondo_relaxed.owl arachnodactyly, receding lower jaw and joint laxity of hands/feet|Achard syndrome OMIM:100700|DOID:6686|UMLS:C1332135|GARD:0008176|NCIT:C35809|MESH:C536012 https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome owl:Class MONDO:0018769 biolink:NamedThing isosporiasis An intestinal infection with Isospora belli. tmpte7i6ely_mondo_relaxed.owl Cystoisospora belli infectious disease|infection by Isospora belli and Isospora hominis|Cystoisospora belli caused disease or disorder|Isosporosis|cystoisosporiasis|Cystoisospora belli disease or disorder NCIT:C4076|EFO:0007232|DOID:2112|ICD10:A07.3|SCTID:371423007|GARD:0003033|UMLS:C0311386|MedDRA:10023076|Orphanet:472|MESH:D021865 owl:Class MONDO:0005707 biolink:NamedThing coccidiosis A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. tmpte7i6ely_mondo_relaxed.owl intestinal coccidiosis|coccidiosis (& [intestinal]) NCIT:C34493|SCTID:62005008|ICD9:007.2|UMLS:C0009187|DOID:2113|MESH:D003048|EFO:0007212 owl:Class GO:0090407 biolink:NamedThing organophosphate biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045605 biolink:NamedThing negative regulation of epidermal cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. tmpte7i6ely_mondo_relaxed.owl inhibition of epidermal cell differentiation|negative regulation of hypodermal cell differentiation|downregulation of epidermal cell differentiation|down-regulation of epidermal cell differentiation|down regulation of epidermal cell differentiation owl:Class GO:0045683 biolink:NamedThing negative regulation of epidermis development Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development. tmpte7i6ely_mondo_relaxed.owl down regulation of epidermis development|negative regulation of epidermal development|downregulation of epidermis development|down-regulation of epidermis development|negative regulation of hypodermis development|inhibition of epidermis development owl:Class MONDO:0019503 biolink:NamedThing anterior segment dysgenesis A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). tmpte7i6ely_mondo_relaxed.owl ASMD|anterior segment mesenchymal dysgenesis|anterior segment ocular dysgenesis|ASOD|familial ocular anterior segment mesenchymal dysgenesis|ASGD OMIM:617319|OMIM:107250|GARD:0010025|ICD10:Q13.8|ICD9:743.49|SCTID:65075004|Orphanet:88632|OMIMPS:107250|OMIM:617315 owl:Class MONDO:0020365 biolink:NamedThing congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision. tmpte7i6ely_mondo_relaxed.owl CHEDI|CHED1|autosomal dominant CHED|congenital hereditary endothelial dystrophy type 1|autosomal dominant congenital hereditary endothelial dystrophy Orphanet:98975|SCTID:416633008|ICD10:H18.5 owl:Class MONDO:0020283 biolink:NamedThing uveitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. tmpte7i6ely_mondo_relaxed.owl uveitis|uveitis (disease)|inflammation of uvea|uvea inflammation uveitis (disease) HP:0000554|MedDRA:10046851|MESH:D014605|DOID:13141|NCIT:C26909|UMLS:C0042164|SCTID:128473001|EFO:1001231|ICD10:H20.9|Orphanet:98715|SCTID:75614007 owl:Class GO:1903049 biolink:NamedThing negative regulation of acetylcholine-gated cation channel activity Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity. tmpte7i6ely_mondo_relaxed.owl inhibition of acetylcholine-gated cation channel activity|down regulation of acetylcholine-gated cation channel activity|down-regulation of acetylcholine-gated cation channel activity|downregulation of acetylcholine-gated cation channel activity owl:Class MONDO:0044919 biolink:NamedThing malignant renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the renal pelvis|malignant renal pelvis tumor|malignant tumor of the renal pelvis|malignant renal pelvis neoplasm|renal pelvis cancer|cancer of renal pelvis|malignant neoplasm of renal pelvis|malignant tumor of renal pelvis NCIT:C7525 owl:Class GO:0019319 biolink:NamedThing hexose biosynthetic process The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpte7i6ely_mondo_relaxed.owl hexose biosynthesis|hexose synthesis|hexose formation|hexose anabolism owl:Class GO:0019318 biolink:NamedThing hexose metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpte7i6ely_mondo_relaxed.owl hexose metabolism owl:Class MONDO:0043191 biolink:NamedThing radial defect robin sequence tmpte7i6ely_mondo_relaxed.owl bilateral radial defects, club foot deformity, micrognathia and cleft palate|bilateral radial defects club foot deformity micrognathia and cleft palate|Bruce winship syndrome|Bruce Winship syndrome MESH:C536261|UMLS:C2931143|GARD:0004624 owl:Class MONDO:0009869 biolink:NamedThing isolated Pierre-Robin syndrome Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. tmpte7i6ely_mondo_relaxed.owl syndrome, Pierre-Robin|Pierre Robin syndrome|Pierre Robin's sequence|isolated Pierre Robin syndrome|syndrome, Pierre Robin|Pierre Robin syndrome skeletal dysplasia polydactyly|Pierre Robins sequence|sequence, Pierre Robin|glossoptosis, micrognathia, and cleft palate|Robin syndrome, Pierre|sequence, Robin|Robin sequence|PRBNS|isolated Pierre Robin sequence|isolated Pierre-Robin syndrome|Pierre Robin sequence|sequence, Pierre Robin's|Pierre-Robin syndrome GARD:0004354|OMIM:261800|Orphanet:718|GARD:0004347|MESH:D010855|NCIT:C85010|SCTID:4602007|ICD10:Q87.0 owl:Class MONDO:0019167 biolink:NamedThing immunoglobulin a vasculitis A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. tmpte7i6ely_mondo_relaxed.owl vascular purpura|Henoch-Schoenlein purpura|anaphylactoid purpura|autoimmune purpura|allergic purpura|Henoch Schonlein purpura|HSP|Schoenlein-Henoch purpura|purpura rheumatica|Henoch-Scholein purpura|rheumatoid purpura|purpura, Schonlein-Henoch|purpura, autoimmune|IgA vasculitis|Henoch-Schonlein purpura Orphanet:761|NCIT:C34963|SCTID:191306005|ICD9:287.0|MESH:D011695|DOID:11123|EFO:1000965|GARD:0008204|ICD10:D69.0|SCTID:86074002 owl:Class MONDO:0006794 biolink:NamedThing hypersensitivity vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. tmpte7i6ely_mondo_relaxed.owl leukocytoclastic vasculitis SCTID:60555002|ICD9:446.2|NCIT:C82863|ICD9:446.20|NCIT:C35119|ICD10:D69.0|EFO:1000974|DOID:9809|ICD9:446.29|MedDRA:10020764|ICD10:M31.0 owl:Class HP:0001268 biolink:NamedThing Mental deterioration Loss of previously present mental abilities, generally in adults. tmpte7i6ely_mondo_relaxed.owl Intellectual deterioration|Cognitive decline|Progressive cognitive decline|Mental deterioration|Cognitive decline, progressive UMLS:C0234985|MSH:D060825 HP:0002303|HP:0006822|HP:0007298|HP:0007264|HP:0007253|HP:0007155 human_phenotype owl:Class HP:0100543 biolink:NamedThing Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering. tmpte7i6ely_mondo_relaxed.owl Cognitive deficits|Intellectual impairment|Cognitive defects|Cognitive impairment|Abnormality of cognition|Cognitive abnormality UMLS:C0338656|UMLS:C0683322|SNOMEDCT_US:386806002|MSH:D060825 An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. doelkens 2010-12-20T06:50:32Z HP:0002302|HP:0002337|HP:0002129|HP:0006998|HP:0006972|HP:0002441|HP:0002128|HP:0007211 human_phenotype owl:Class MONDO:0002541 biolink:NamedThing spinal cord oligodendroglioma A oligodendroglioma that involves the spinal cord. tmpte7i6ely_mondo_relaxed.owl spinal cord oligodendroglioma|oligodendroglioma of spinal cord|well differentiated spinal cord oligodendroglial tumor|well differentiated spinal cord oligodendroglioma SCTID:254950006|NCIT:C4535|DOID:3184|UMLS:C0346295 owl:Class MONDO:0016695 biolink:NamedThing oligodendroglioma A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl oligodendroglioma|WHO grade II oligodendroglial neoplasm|oligodendroglial neoplasm|oligodendroglial tumor|well differentiated oligodendroglial tumor|well differentiated oligodendroglioma|WHO grade II oligodendroglial tumor DOID:3181|MESH:D009837|NCIT:C3288|ICD10:C79.1|UMLS:C1335110|OMIM:616568|ICDO:9450/3|ONCOTREE:ODG|OMIM:137800|ICD10:C71.9|GARD:0009953|Orphanet:251627|NCIT:C6960|MedDRA:10030286 owl:Class HP:0010460 biolink:NamedThing Abnormality of the female genitalia Abnormality of the female genital system. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023820 Abnormality of the female internal or external genitalia. peter 2009-09-15T08:32:09Z human_phenotype owl:Class MONDO:0016426 biolink:NamedThing fusariosis Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. tmpte7i6ely_mondo_relaxed.owl Fusarium infectious disease|Fusarium disease or disorder|Fusarium caused disease or disorder|Fusarium infection EFO:1001795|MedDRA:10051919|MESH:D060585|ICD10:B48.7|SCTID:64250002|Orphanet:228119|DOID:0050289 owl:Class MONDO:0007376 biolink:NamedThing fleck corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. tmpte7i6ely_mondo_relaxed.owl François-Neetens speckled corneal dystrophy|FCD|FranC'ois-Neetens speckled corneal dystrophy|Francois-Neetens speckled corneal dystrophy|corneal dystrophy, FLECK|Cfd|corneal dystrophy, Francois-Neetens speckled or flecked|fleck corneal dystrophy Orphanet:98970|SCTID:417183007|MESH:C563256|UMLS:C1562113|ICD10:H18.5|ICD9:371.56|DOID:0060448|OMIM:121850 owl:Class MONDO:0020213 biolink:NamedThing stromal corneal dystrophy The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy (disease) of substantia propria of cornea|corneal stromal dystrophy|substantia propria of cornea corneal dystrophy (disease)|stromal dystrophy DOID:0060442|UMLS:C0038457|Orphanet:98626|SCTID:231931001|ICD10:H18.5|ICD9:371.56 owl:Class MONDO:0014144 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2S Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. tmpte7i6ely_mondo_relaxed.owl limb-girdle muscular dystrophy type 2S|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11|LGMD2S|muscular dystrophy, limb-girdle, type 2S|TRAPPC11 autosomal recessive limb-girdle muscular dystrophy OMIM:615356|Orphanet:369847|UMLS:C3809236|ICD10:G71.0|DOID:0110287|GARD:0012543|Orphanet:369840 owl:Class MONDO:0018243 biolink:NamedThing intellectual disability-hyperkinetic movement-truncal ataxia syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:615356|Orphanet:369847|UMLS:CN204803|ICD10:G71.0 owl:Class CL:0000652 biolink:NamedThing pinealocyte This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation. tmpte7i6ely_mondo_relaxed.owl BTO:0001068|FMA:83417 cell owl:Class MONDO:0022687 biolink:NamedThing cerebellar degeneration Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. tmpte7i6ely_mondo_relaxed.owl neurodegenerative disease of cerebellum|Brain degeneration|cerebellar Degeneration|cerebellar degeneration|cerebral degeneration|cerebellum neurodegenerative disease DOID:1443|UMLS:C0262404|SCTID:418143002|NCIT:C84624|GARD:0006019|SCTID:95646004|UMLS:C0154671|ICD9:331.9 https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration owl:Class MONDO:0002427 biolink:NamedThing cerebellar disorder Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. tmpte7i6ely_mondo_relaxed.owl cerebellum disease or disorder|cerebellum disease|disorder of cerebellum|disease of cerebellum|disease or disorder of cerebellum DOID:2786|MESH:D002526|SCTID:223176004|UMLS:C0007760 owl:Class MONDO:0004051 biolink:NamedThing aleukemic monocytic leukemia cutis tmpte7i6ely_mondo_relaxed.owl aleukemic monocytic leukemia cutis DOID:6958|NCIT:C5630|UMLS:C1332232 owl:Class MONDO:0003729 biolink:NamedThing aleukemic leukemia cutis Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process. tmpte7i6ely_mondo_relaxed.owl aleukemic leukemia cutis|leukemia subleukemic GARD:0006892|DOID:6003|UMLS:C0887846|NCIT:C4983 owl:Class MONDO:0015474 biolink:NamedThing cryptosporidiosis Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. tmpte7i6ely_mondo_relaxed.owl Cryptosporidium infection|Cryptosporidium infectious disease|Cryptosporidium disease or disorder|Cryptosporidioses|Cryptosporidial gastroenteritis|Cryptosporidium caused disease or disorder|intestinal cryptosporidiosis|infection by Cryptosporidium ICD9:007.4|DOID:1733|UMLS:C0520796|SCTID:66160001|GARD:0006219|MedDRA:10011502|MESH:D003457|ICD10:A07.2|NCIT:C128408|UMLS:C0010418|Orphanet:1549 https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis owl:Class MONDO:0014916 biolink:NamedThing developmental and epileptic encephalopathy, 41 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene. tmpte7i6ely_mondo_relaxed.owl EIEE41|developmental and epileptic encephalopathy, 41|epileptic encephalopathy, early infantile, type 41|epileptic encephalopathy, early infantile, 41|SLC1A2 early infantile epileptic encephalopathy|DEE41|epileptic encephalopathy, early infantile, 41; EIEE41|early infantile epileptic encephalopathy caused by mutation in SLC1A2 DOID:0080442|OMIM:617105|UMLS:C4310717 owl:Class MONDO:0016022 biolink:NamedThing early myoclonic encephalopathy Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. tmpte7i6ely_mondo_relaxed.owl myoclonic seizure|epileptic seizures, myoclonic|eme|myoclonia epileptica|early myoclonic encephalopathy with suppression-bursts|myoclonic seizure disorder|myoclonus epilepsy|early myoclonic encephalopathy|epileptic seizures - myoclonic|myoclonic epilepsy OMIM:609304|NCIT:C116593|GARD:0007142|OMIM:617105|UMLS:C0270855|SCTID:44423001|UMLS:C0014550|DOID:308|EFO:1001900|ICD10:G40.4|Orphanet:1935|OMIM:616341 owl:Class GO:1903781 biolink:NamedThing positive regulation of cardiac conduction Any process that activates or increases the frequency, rate or extent of cardiac conduction. tmpte7i6ely_mondo_relaxed.owl activation of cardiac conduction|up regulation of cardiac conduction|up-regulation of cardiac conduction|upregulation of cardiac conduction owl:Class UBERON:0003445 biolink:NamedThing pes nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003442 biolink:NamedThing hindlimb nerve tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24400 biolink:NamedThing glycoside A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively. tmpte7i6ely_mondo_relaxed.owl glycosides|O-glycosides|O-glycoside owl:Class GO:0031948 biolink:NamedThing positive regulation of glucocorticoid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpte7i6ely_mondo_relaxed.owl up regulation of glucocorticoid biosynthetic process|upregulation of glucocorticoid biosynthetic process|up-regulation of glucocorticoid biosynthetic process|stimulation of glucocorticoid biosynthetic process|activation of glucocorticoid biosynthetic process owl:Class MONDO:0012529 biolink:NamedThing Diamond-Blackfan anemia 3 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene. tmpte7i6ely_mondo_relaxed.owl RPS24 Diamond-Blackfan anemia|DBA3|Diamond-Blackfan Anemia type 3|Diamond-Blackfan anemia 3|anemia Diamond-Blackfan 3|Diamond-Blackfan anemia caused by mutation in RPS24 OMIM:610629|MESH:C536355|Orphanet:124|GARD:0010241|UMLS:C1857719 https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3 owl:Class MONDO:0009578 biolink:NamedThing neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. tmpte7i6ely_mondo_relaxed.owl NCM|neurocutaneous melanosis|neurocutaneous melanosis syndrome|Neuromelanosis|melanosis, neurocutaneous|NCMS OMIM:249400|GARD:0007186|ICD10:D22.6|ICD10:D22.3|Orphanet:2481|ICD10:D22.4|ICD10:D22.7|ICD10:D22.5|MESH:C537387 owl:Class MONDO:0017557 biolink:NamedThing Madelung deformity, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295223|ICD10:Q74.0 owl:Class MONDO:0018154 biolink:NamedThing Madelung deformity Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow. tmpte7i6ely_mondo_relaxed.owl MedDRA:10007700|Orphanet:35688|OMIM:127300|SCTID:4530000|ICD10:Q74.0|GARD:0012973|ICD9:755.54 owl:Class MONDO:0007096 biolink:NamedThing amenorrhea-galactorrhea syndrome tmpte7i6ely_mondo_relaxed.owl amenorrhea-galactorrhea syndrome UMLS:C0271556|SCTID:64678009|ICD9:253.1|OMIM:104600|MESH:C537072 owl:Class UBERON:0003479 biolink:NamedThing thoracic cavity vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003519 biolink:NamedThing thoracic cavity blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034024 biolink:NamedThing kyphoscoliotic Ehlers-Danlos syndrome A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. tmpte7i6ely_mondo_relaxed.owl kyphoscoliotic EDS|EDS VI Orphanet:536545 owl:Class UBERON:0005325 biolink:NamedThing mesonephric glomerulus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000074 biolink:NamedThing renal glomerulus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003440 biolink:NamedThing limb nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002584 biolink:NamedThing Intestinal bleeding Bleeding from the intestines. tmpte7i6ely_mondo_relaxed.owl Intestinal bleeding|Intestinal haemorrhage|Intestinal hemorrhage SNOMEDCT_US:712510007|UMLS:C0267373 human_phenotype owl:Class HP:0002239 biolink:NamedThing Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl GI hemorrhage|GI haemorrhage|Gastrointestinal bleeding|Gastrointestinal haemorrhage SNOMEDCT_US:74474003|UMLS:C0017181|MSH:D006471 human_phenotype owl:Class MONDO:0013384 biolink:NamedThing Hirschsprung disease, susceptibility to, 4 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 4|EDN3 Hirschsprung disease|HSCR4|Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, type 4|susceptibility to Hirschsprung disease 4 Orphanet:388|OMIM:613712 owl:Class MONDO:0013771 biolink:NamedThing transient infantile hypertriglyceridemia and hepatosteatosis tmpte7i6ely_mondo_relaxed.owl transient infantile hypertriglyceridemia and hepatosteatosis|transient infantile hypertriglyceridemia and fatty liver|HTGTI|hypertriglyceridemia, transient infantile OMIM:614480|UMLS:C3280953|Orphanet:300293 owl:Class MONDO:0005771 biolink:NamedThing geographic tongue A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. tmpte7i6ely_mondo_relaxed.owl benign migratory glossitis|glossitis areata exfoliativa|Pityriasis linguae NCIT:C84588|SCTID:59032001|DOID:1455|EFO:0007283|OMIM:137400|ICD9:529.1|ICD10:K14.1|UMLS:C0017677 owl:Class MONDO:0001989 biolink:NamedThing atrophic glossitis tmpte7i6ely_mondo_relaxed.owl atrophy of tongue papillae|glossitis, Hunter's|Hunter's glossitis|smooth atrophic tongue UMLS:C0155964|ICD10:K14.4|ICD9:529.4|DOID:1453|SCTID:9491003 owl:Class GO:1905954 biolink:NamedThing positive regulation of lipid localization Any process that activates or increases the frequency, rate or extent of lipid localization. tmpte7i6ely_mondo_relaxed.owl up-regulation of lipid localization|upregulation of lipid localisation|up-regulation of lipid localisation|activation of lipid localization|up regulation of lipid localisation|up regulation of lipid localization|activation of lipid localisation|upregulation of lipid localization|positive regulation of lipid localisation owl:Class UBERON:0005477 biolink:NamedThing stomach fundus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001184 biolink:NamedThing chronic rapidly progressive glomerulonephritis Chronic form of rapidly progressive glomerulonephritis. tmpte7i6ely_mondo_relaxed.owl rapidly progressive glomerulonephritis, chronic|chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis ICD9:582.4|UMLS:C0341694|SCTID:197614002|DOID:11036 owl:Class MONDO:0017236 biolink:NamedThing rapidly progressive glomerulonephritis Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. tmpte7i6ely_mondo_relaxed.owl crescentic glomerulonephritis|RPGN MedDRA:10018378|DOID:4776|ICD9:582.4|UMLS:C0221239|Orphanet:280569|ICD9:580.4|ICD9:583.4|NCIT:C35264|SCTID:236392004|ICD10:N01 owl:Class MONDO:0019115 biolink:NamedThing obesity due to melanocortin 4 receptor deficiency Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. tmpte7i6ely_mondo_relaxed.owl MC4R deficiency Orphanet:71529|ICD10:E66.8|UMLS:C4273958|SCTID:717269008|NCIT:C120394|OMIM:601665 owl:Class MONDO:0020075 biolink:NamedThing genetic non-syndromic obesity tmpte7i6ely_mondo_relaxed.owl monogenic isolated obesity|monogenic obesity due to a leptin-melanocortin pathway anomaly|genetic isolated obesity|genetic non-syndromic obesity Orphanet:98267 owl:Class MONDO:0006666 biolink:NamedThing atrophy of thyroid Tissue degeneration and diminished size of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl thyroid atrophy|thyroid gland atrophy SCTID:190309006|ICD10:E03.4|EFO:1000827|UMLS:C2981141|NCIT:C26942|MedDRA:10043693|ICD9:246.8 owl:Class MONDO:0003240 biolink:NamedThing thyroid gland disorder A disease involving the thyroid gland. tmpte7i6ely_mondo_relaxed.owl thyroid gland disorders|thyroid gland disease|thyroid gland diseases|disease of thyroid gland|thyroid gland disease or disorder|thyroid gland disorder|disorder of thyroid gland|thyroid disease|disease or disorder of thyroid gland ICD10:E07.9|NCIT:C26893|Wikipedia:Thyroid_disease|ICD9:246.9|SCTID:14304000|ICD10:E00-E07|DOID:50|ICD10:E00.E07|MESH:D013959|EFO:1000627|ICD9:240-246.99|ICD9:246.8|UMLS:C0040128 owl:Class MONDO:0002143 biolink:NamedThing vaginal yolk sac tumor A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge. tmpte7i6ely_mondo_relaxed.owl vaginal endodermal sinus neoplasm|vaginal endodermal sinus tumor|yolk sac tumor|vaginal yolk Sac neoplasm|vaginal yolk Sac tumor NCIT:C6379|ONCOTREE:VYST|UMLS:C1336945|DOID:1910 owl:Class MONDO:0016094 biolink:NamedThing vaginal germ cell malignant tumor A malignant germ cell tumor that involves the vagina. tmpte7i6ely_mondo_relaxed.owl vaginal germ cell cancer|malignant germ cell tumor of the vagina|vagina malignant germ cell tumor Orphanet:206489|UMLS:CN200860|ICD10:C52 owl:Class MONDO:0024878 biolink:NamedThing secondary carcinoma A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment. tmpte7i6ely_mondo_relaxed.owl secondary carcinoma NCIT:C36310|UMLS:C0085668 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class HGNC:13517 biolink:NamedThing CLIC5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016375 biolink:NamedThing acquired peripheral movement disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN226913|Orphanet:221114 owl:Class HGNC:6541 biolink:NamedThing LDHB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016449 biolink:NamedThing mid-dermal elastolysis tmpte7i6ely_mondo_relaxed.owl Orphanet:228299 owl:Class UBERON:0004474 biolink:NamedThing musculature of arm tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6636 biolink:NamedThing LMNA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020469 biolink:NamedThing 48,XYYY syndrome 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. tmpte7i6ely_mondo_relaxed.owl 48,XYYY SCTID:733625003|ICD10:Q98.8|GARD:0011985|UMLS:CN207331|Orphanet:99329|UMLS:C4518082 owl:Class UBERON:0003709 biolink:NamedThing circle of Willis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003278 biolink:NamedThing inner ear cancer A malignant neoplasm involving the internal ear. tmpte7i6ely_mondo_relaxed.owl internal ear cancer|malignant neoplasm of internal ear|cancer of internal ear|malignant internal ear neoplasm UMLS:C1512779|NCIT:C39784|DOID:5102 owl:Class MONDO:0009780 biolink:NamedThing lethal omphalocele-cleft palate syndrome Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. tmpte7i6ely_mondo_relaxed.owl omphalocele-cleft palate syndrome, lethal|Czeizel syndrome|cleft palate-omphalocele syndrome, lethal|omphalocele cleft palate syndrome lethal SCTID:719408007|GARD:0004079|ICD10:Q87.8|MESH:C537747|OMIM:258320|Orphanet:2736|UMLS:C1850317 https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal owl:Class MONDO:0010696 biolink:NamedThing omphalocele, X-linked tmpte7i6ely_mondo_relaxed.owl omphalocele, X-linked Orphanet:660|UMLS:C3275625|OMIM:310980 owl:Class MONDO:0019015 biolink:NamedThing omphalocele Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. tmpte7i6ely_mondo_relaxed.owl omphalocoele|exomphalos|omphalocele (disease)|eventration|omphalocele|congenital omphalocele omphalocele (disease) HP:0001539|OMIM:310980|NCIT:C98997|ICD9:756.72|DOID:0060327|MedDRA:10030308|Orphanet:660|SCTID:18735004|ICD10:Q79.2|UMLS:C0795690|OMIM:164750 owl:Class HGNC:3296 biolink:NamedThing EIF4G1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021201 biolink:NamedThing skin infection An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. tmpte7i6ely_mondo_relaxed.owl skin infection SCTID:19824006|UMLS:C0037278|NCIT:C35025 owl:Class MONDO:0001623 biolink:NamedThing cicatricial lagophthalmos tmpte7i6ely_mondo_relaxed.owl cicatricial lagophthalmos|cicatricial lagophthalmos (disease) cicatricial lagophthalmos (disease) HP:0030004|DOID:13038|ICD10:H02.21|UMLS:C0155199|ICD9:374.23 owl:Class MONDO:0001604 biolink:NamedThing lagophthalmos tmpte7i6ely_mondo_relaxed.owl SCTID:60735000|ICD9:374.2|ICD10:H02.2|ICD9:374.20|DOID:12959|ICD10:H02.20|UMLS:C0152226 owl:Class CL:0000595 biolink:NamedThing enucleate erythrocyte An erythrocyte lacking a nucleus. tmpte7i6ely_mondo_relaxed.owl red blood cell|RBC cell owl:Class CL:0000225 biolink:NamedThing anucleate cell A cell that lacks a nucleus. tmpte7i6ely_mondo_relaxed.owl non-nucleated cell FMA:68647 cell owl:Class UBERON:0003098 biolink:NamedThing optic stalk tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034705 biolink:NamedThing developing neuroepithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025505 biolink:NamedThing mink viral enteritis A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route. tmpte7i6ely_mondo_relaxed.owl viral enteritis, mink|enteritis, mink viral|mink viral enteritides|viral enteritides, mink|enteritis, infectious, of mink|enteritides, mink viral UMLS:C1720999|MESH:D053489 owl:Class MONDO:0043143 biolink:NamedThing microphthalmia microtia fetal akinesia tmpte7i6ely_mondo_relaxed.owl Thomas-Jewett-Raines syndrome|microphthalmia-microtia-fetal akinesia|Thomas Jewett Raines syndrome|fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus UMLS:C2931224|Orphanet:2547|GARD:0003650|MESH:C536513 owl:Class MONDO:0016073 biolink:NamedThing syndromic microphthalmia A microphthalmia that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic|syndromic microphthalmia|syndrome associated with microphthalmia DOID:0080636|Orphanet:202948|UMLS:CN226833|OMIMPS:309800 owl:Class MONDO:0013460 biolink:NamedThing osteogenesis imperfecta type 12 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta caused by mutation in SP7|osteogenesis imperfecta, type 12|osteogenesis imperfecta, type XII|OI12|SP7 osteogenesis imperfecta|OI, type 12|osteogenesis imperfecta type XII ICD10:Q78.0|Orphanet:216820|DOID:0110348|OMIM:613849|UMLS:C3151433 owl:Class MONDO:0100358 biolink:NamedThing ectodermal dysplasia WNT10A related tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia WNT10A related http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class UBERON:0003323 biolink:NamedThing mesenchyme of upper jaw tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034995 biolink:NamedThing jaw mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012328 biolink:NamedThing trichilemmal cyst tmpte7i6ely_mondo_relaxed.owl Pilar cyst|TRICY1|Tricholemmal cyst|trichilemmal cyst 1 UMLS:C1864801|UMLS:C2266788|OMIM:609649|SCTID:254677004 owl:Class HGNC:29326 biolink:NamedThing SLC7A14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019172 biolink:NamedThing aniridia Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). tmpte7i6ely_mondo_relaxed.owl aplasia of iris MedDRA:10002532|UMLS:C0003076|Orphanet:77|OMIM:106210|SCTID:69278003|GARD:0005816|NCIT:C84563|DOID:12271|ICD10:Q13.1|ICD9:743.45|MESH:D015783 https://rarediseases.info.nih.gov/diseases/5816/aniridia owl:Class MONDO:0020146 biolink:NamedThing major induction processes eye anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98554 owl:Class MONDO:0003450 biolink:NamedThing eccrine papillary adenoma A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections. tmpte7i6ely_mondo_relaxed.owl eccrine papillary adenoma of skin|Papillary eccrine adenoma NCIT:C4173|GARD:0010463|ICDO:8408/0|UMLS:C0334350|DOID:5446|SCTID:253021007 https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma owl:Class MONDO:0021110 biolink:NamedThing sweat gland adenoma A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma. tmpte7i6ely_mondo_relaxed.owl adenoma of the sweat gland|sweat gland adenoma|adenoma of sweat gland|adenoma, sweat gland, benign NCIT:C7560|ICDO:8400/0 owl:Class MONDO:0008304 biolink:NamedThing premature chromatid separation trait tmpte7i6ely_mondo_relaxed.owl total premature chromatid separation trait|premature chromatid separation trait|PCS OMIM:176430|UMLS:C1864389|EFO:0009077 owl:Class MONDO:0011216 biolink:NamedThing hemochromatosis type 2A Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene. tmpte7i6ely_mondo_relaxed.owl HJV hemochromatosis type 2|hemochromatosis, type 2|hemochromatosis, type 2A|hemochromatosis, juvenile|hemochromatosis type 2 caused by mutation in HJV|HFE2A|hemochromatosis type 2A DOID:0111027|OMIM:602390|Orphanet:79230 owl:Class MONDO:0019257 biolink:NamedThing hemochromatosis type 2 Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpte7i6ely_mondo_relaxed.owl iron overload disease juvenile|juvenile hemochromatosis|HFE2|hemochromatosis juvenile|JHH SCTID:50855007|UMLS:CN205842|MESH:C537247|OMIM:613313|Orphanet:79230|OMIM:602390|ICD10:E83.1|GARD:0010092|DOID:0111034 owl:Class MONDO:0000181 biolink:NamedThing microcephaly and chorioretinopathy tmpte7i6ely_mondo_relaxed.owl OMIMPS:251270 Note that OMIM has two PS that appear to refer to the same thing owl:Class MONDO:0017089 biolink:NamedThing isolated megalencephaly A megalencephaly (disease) that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated megalencephaly (disease)|nonsyndromic megalencephaly (disease)|isolated macrencephaly Orphanet:268920|ICD10:Q04.5 owl:Class MONDO:0016608 biolink:NamedThing megalencephaly A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). tmpte7i6ely_mondo_relaxed.owl megalencephaly (disease)|megalencephaly|macroencephaly megalencephaly (disease) Orphanet:2477|SCTID:9740002|MESH:D058627|OMIM:155350|MedDRA:10050183|ICD10:Q04.5|HP:0001355|OMIM:248000|ICD9:742.4 owl:Class HGNC:1445 biolink:NamedThing CALM2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004363 biolink:NamedThing glutathione synthase activity Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate. tmpte7i6ely_mondo_relaxed.owl gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming)|GSH synthetase activity|glutathione synthetase activity owl:Class MONDO:0016786 biolink:NamedThing partial hydatidiform mole Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. tmpte7i6ely_mondo_relaxed.owl partial molar pregnancy|incomplete hydatid Mole|incomplete hydatidiform mole|PHM|partial Mole|incomplete molar pregnancy|partial hydatid Mole Orphanet:254693|ONCOTREE:PHM|NCIT:C4293|UMLS:C0334529|SCTID:237250000|ICD10:O01.1|ICDO:9103/0 owl:Class MONDO:0006248 biolink:NamedThing hydatidiform mole A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. tmpte7i6ely_mondo_relaxed.owl HYDM|molar pregnancy|hydatidiform mole, recurrent|hydatid Mole|hydatidiform mole OMIM:231090|EFO:1000298|ICD9:631|MedDRA:10020481|ONCOTREE:MP|GARD:0010263|OMIMPS:231090|Orphanet:99927|ICD10:O01.1|SCTID:44782008|NCIT:C3110|MESH:D006828|ICD10:O01.9|ICDO:9100/0|UMLS:C0020217|ICD10:O01.0|OMIM:614293 owl:Class MONDO:0014525 biolink:NamedThing combined oxidative phosphorylation defect type 23 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene. tmpte7i6ely_mondo_relaxed.owl GTPBP3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in GTPBP3|combined oxidative phosphorylation deficiency type 23|COXPD23|combined oxidative phosphorylation deficiency 23 Orphanet:444013|DOID:0111500|EFO:0009033|ICD10:I42.2|UMLS:C4015447|OMIM:616198 owl:Class MONDO:0003890 biolink:NamedThing infiltrating bladder urothelial carcinoma An invasive transitional cell carcinoma that arises from the urinary bladder urothelium. tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma|invasive bladder transitional cell carcinoma|invasive bladder urothelial carcinoma|invasive transitional cell carcinoma of the urinary bladder|infiltrating transitional cell carcinoma of the urinary bladder NCIT:C27885|DOID:6477|UMLS:C1334281 owl:Class MONDO:0040678 biolink:NamedThing infiltrating urothelial carcinoma A invasive carcinoma that involves the urothelium. tmpte7i6ely_mondo_relaxed.owl infiltrating transitional cell carcinoma of the urinary tract|infiltrating urothelial carcinoma NCIT:C39853|UMLS:C1512751 owl:Class GO:0032388 biolink:NamedThing positive regulation of intracellular transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. tmpte7i6ely_mondo_relaxed.owl upregulation of intracellular transport|stimulation of intracellular transport|activation of intracellular transport|up regulation of intracellular transport|up-regulation of intracellular transport owl:Class GO:0051050 biolink:NamedThing positive regulation of transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl activation of transport|up regulation of transport|upregulation of transport|up-regulation of transport|stimulation of transport owl:Class UBERON:0009127 biolink:NamedThing epibranchial ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001714 biolink:NamedThing cranial ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0025496 biolink:NamedThing multi-tissue plant structure A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types. tmpte7i6ely_mondo_relaxed.owl 複数の組織からなる植物構造 (Japanese, exact)|estructura vegetal con múltiples tejidos (Spanish, exact) PO_GIT:480 Most multi-tissue plant structures have at least a small connection to other plant structures via a fiat boundary, such as where a leaf (PO:0025034) connects to a shoot axis (PO:0025029), a petal (PO:0009032) connects to a receptacle (PO:0009064), or a branch (PO:0025073) connects to a stem (PO:0009047). Refers to CARO:0000055 multi-tissue structure, def'n: Anatomical structure that has as parts two or more portions of tissue of at least two different types, and which through specific morphogenetic processes, form a single distinct structural unit demarcated by bona-fide boundries from other structural units of differnt types. Laurel_Cooper 2012-06-11T14:57:00Z plant_anatomy owl:Class ENVO:00000191 biolink:NamedThing solid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes. tmpte7i6ely_mondo_relaxed.owl geological feature|physiographic feature owl:Class MONDO:0001535 biolink:NamedThing vagus nerve disorder A disease involving the vagus nerve. tmpte7i6ely_mondo_relaxed.owl disorder of pneumogastric [10th] nerve|disorder of vagus nerve|disorder of vagal nerve|Vagus nerve disorder|disease of vagus nerve|vagus nerve disease or disorder|disease or disorder of vagus nerve|vagus nerve disease NCIT:C27591|ICD10:G52.2|ICD9:352.3|SCTID:73765005|DOID:12491|UMLS:C0152179|MESH:D020421 owl:Class MONDO:0002639 biolink:NamedThing glossopharyngeal nerve disorder A disease involving the glossopharyngeal nerve. tmpte7i6ely_mondo_relaxed.owl glossopharyngeal nerve disease|IX nerve disorder|glossopharyngeal nerve disease or disorder|disease of glossopharyngeal nerve|disease or disorder of glossopharyngeal nerve|ninth nerve disorder|glossopharyngeal nerve disorder|disorder of glossopharyngeal nerve ICD9:352|ICD9:352.2|SCTID:80962007|UMLS:C0751941|NCIT:C27211|ICD10:G52|DOID:3418 owl:Class NCBITaxon:2560080 biolink:NamedThing Rubulavirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11158 biolink:NamedThing Paramyxoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013056 biolink:NamedThing developmental and epileptic encephalopathy, 39 A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. tmpte7i6ely_mondo_relaxed.owl DEE39|early infantile epileptic encephalopathy caused by mutation in SLC25A12|aspartate-glutamate carrier 1 deficiency|EIEE39|hypomyelination, global cerebral|mitochondrial aspartate-glutamate carrier 1 deficiency|SLC25A12 early infantile epileptic encephalopathy|epileptic encephalopathy with global cerebral demyelination|AGC1 deficiency|epileptic encephalopathy, early infantile, 39 ICD10:G31.8|MESH:C567847|SCTID:726702005|UMLS:C4512050|OMIM:612949|DOID:0080349|Orphanet:353217|UMLS:C2751855 owl:Class HP:0000153 biolink:NamedThing Abnormality of the mouth An abnormality of the mouth. tmpte7i6ely_mondo_relaxed.owl Abnormal mouth|Abnormality of the mouth MSH:D009056|UMLS:C0026633|SNOMEDCT_US:128334002 human_phenotype owl:Class ENVO:00002017 biolink:NamedThing metamorphic rock A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation). tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00001995 biolink:NamedThing rock A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3800 biolink:NamedThing FOXC1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24745 biolink:NamedThing hydroxypyridine Any member of the class of pyridines with at least one hydroxy substituent. tmpte7i6ely_mondo_relaxed.owl hydroxypyridines owl:Class CHEBI:26421 biolink:NamedThing pyridines Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0008734 biolink:NamedThing Decreased testicular size Reduced volume of the testicle (the male gonad). tmpte7i6ely_mondo_relaxed.owl Testicular hypoplasia|Decreased testicular size|Small testes|Hypoplastic testes|Small testis UMLS:C0241355|SNOMEDCT_US:276411001 HP:0000043 human_phenotype owl:Class HP:0000050 biolink:NamedThing Hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). tmpte7i6ely_mondo_relaxed.owl Underdeveloped male genitalia|Hypoplastic male genitalia|Small male external genitalia UMLS:C1852534 HP:0008721|HP:0008710 human_phenotype owl:Class MONDO:0011035 biolink:NamedThing neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). tmpte7i6ely_mondo_relaxed.owl Noonan-neurofibromatosis syndrome|neurofibromatosis with Noonan phenotype|NFNS|neurofibromatosis-Noonan syndrome|neurofibromatosis type 1-Noonan syndrome|Noonan neurofibromatosis syndrome MESH:C537393|Orphanet:638|OMIM:601321|SCTID:715344006|GARD:0000372|ICD10:Q87.1|MESH:D009456|DOID:0111683 https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome owl:Class MONDO:0019289 biolink:NamedThing hyperpigmentation of the skin tmpte7i6ely_mondo_relaxed.owl SCTID:49765009|HP:0000953|Orphanet:79375|ICD9:709.09|EFO:0009047 owl:Class MONDO:0004044 biolink:NamedThing ureter urothelial papilloma A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter. tmpte7i6ely_mondo_relaxed.owl ureter urothelial papilloma UMLS:C1519823|NCIT:C6160|DOID:6936 owl:Class MONDO:0004041 biolink:NamedThing urothelial papilloma A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. tmpte7i6ely_mondo_relaxed.owl transitional cell papilloma of bladder|urothelial papilloma|bladder papilloma|bladder transitional cell papilloma|uPA NCIT:C3842|ICDO:8120/1|DOID:6933|ONCOTREE:UPA owl:Class MONDO:0015930 biolink:NamedThing respiratory malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:182111 owl:Class UBERON:0001074 biolink:NamedThing pericardial cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002323 biolink:NamedThing coelemic cavity lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015962 biolink:NamedThing inherited renal tubular disease tmpte7i6ely_mondo_relaxed.owl genetic renal tubular disease UMLS:CN200561|Orphanet:183592 owl:Class CHEBI:27869 biolink:NamedThing chloroacetic acid A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent. tmpte7i6ely_mondo_relaxed.owl CAA|monochloroethanoic acid|Chloroethanoic acid|Acide monochloracetique|alpha-chloro-acetic acid|Monochloressigsaeure|monochloroacetic acid|2-chloro-ethanoic acid|Chloroacetic acid|chloracetic acid|2-chloroacetic acid|Acide chloracetique|2-chloro-acetic acid|Acide chloroacetique|chloroacetic acid owl:Class CHEBI:16277 biolink:NamedThing haloacetic acid A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003352 biolink:NamedThing epithelium of midgut tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:315 biolink:NamedThing AFG3L2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024431 biolink:NamedThing bilirubin metabolism disease tmpte7i6ely_mondo_relaxed.owl disorder of bilirubin metabolism SCTID:80006005 owl:Class MONDO:0007592 biolink:NamedThing familial recurrent peripheral facial palsy tmpte7i6ely_mondo_relaxed.owl familial recurrent Bell palsy|facial palsy, familial recurrent peripheral ICD10:G51.0|Orphanet:2809|OMIM:134200|MESH:C565028|UMLS:C1851399 owl:Class MONDO:0032808 biolink:NamedThing developmental and epileptic encephalopathy, 77 tmpte7i6ely_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 19|epileptic encephalopathy, early infantile, 77|multiple congenital anomalies-hypotonia-seizures syndrome 4|EIEE77|DEE77 OMIM:618548 owl:Class HP:0031694 biolink:NamedThing Severe adenovirus infection An unusually severe adenovirus infection. tmpte7i6ely_mondo_relaxed.owl 2017-12-17 22:36:24+00:00 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. peter human_phenotype owl:Class HP:0031691 biolink:NamedThing Severe viral infection An unusually severe viral infection. tmpte7i6ely_mondo_relaxed.owl 2017-12-17 22:28:59+00:00 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. peter human_phenotype owl:Class MONDO:0003216 biolink:NamedThing ureter adenocarcinoma A carcinoma that arises from glandular epithelial cells of the ureter tmpte7i6ely_mondo_relaxed.owl ureter adenocarcinoma|adenocarcinoma of ureter|ureteral adenocarcinoma|adenocarcinoma of the ureter UMLS:C1336873|DOID:4938|NCIT:C6155 owl:Class MONDO:0013334 biolink:NamedThing cocoon syndrome Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. tmpte7i6ely_mondo_relaxed.owl fetal encasement syndrome|cocoon syndrome OMIM:613630|Orphanet:465824|DOID:0060647|UMLS:C3150891 owl:Class HGNC:17023 biolink:NamedThing RNF139 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015035 biolink:NamedThing lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|UMLS:C4274993|SCTID:715819005|UMLS:CN228901|Orphanet:100012 owl:Class MONDO:0019450 biolink:NamedThing lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. tmpte7i6ely_mondo_relaxed.owl LCH UMLS:C4274995|Orphanet:86823|SCTID:715817007|ICD10:Q04.3 owl:Class CL:0002202 biolink:NamedThing epithelial cell of tracheobronchial tree An epithelial cell of the tracheobronchial tree. tmpte7i6ely_mondo_relaxed.owl FMA:66816 tmeehan 2010-09-02T02:09:14Z CL:1000407 cell owl:Class MONDO:0015178 biolink:NamedThing congenital intestinal transport defect tmpte7i6ely_mondo_relaxed.owl Orphanet:104003 owl:Class UBERON:0003265 biolink:NamedThing chorionic mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007524 biolink:NamedThing dense mesenchyme tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005036 biolink:NamedThing mucosa of main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:147538 biolink:NamedThing Pezizomycotina tmpte7i6ely_mondo_relaxed.owl Euascomycota GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:716545 biolink:NamedThing saccharomyceta tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008972 biolink:NamedThing rhizomelic chondrodysplasia punctata type 1 A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. tmpte7i6ely_mondo_relaxed.owl rhizomelic chondrodysplasia punctata type 1|chondrodystrophia calcificans punctata|rhizomelic chondrodysplasia punctata caused by mutation in PEX7|Pbd9|PEX7 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata, type 1|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|Rcdp1|RCDP1 GARD:0006049|DOID:0110851|UMLS:C1859133|OMIM:215100|ICD10:Q77.3|Orphanet:177|Orphanet:309789 https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0007737 biolink:NamedThing humeroradial synostosis Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. tmpte7i6ely_mondo_relaxed.owl humero-radial synostosis|humero-radial fusion|humeroradial synostosis|humeroradial synostosis (disease) humeroradial synostosis (disease) SCTID:205329008|GARD:0002748|OMIM:143050|ICD10:Q74.0|HP:0003041|Orphanet:3265|OMIM:236400|ICD9:755.59|DOID:0060467 owl:Class MONDO:0008266 biolink:NamedThing polydactyly, postaxial, type A1 tmpte7i6ely_mondo_relaxed.owl polydactyly, postaxial|postaxial polydactyly, type B|postaxial polydactyly, type A|polydactyly, postaxial, type A1|PAPA1 Orphanet:93334|OMIM:174200|Orphanet:93335 owl:Class MONDO:0019673 biolink:NamedThing postaxial polydactyly type A tmpte7i6ely_mondo_relaxed.owl postaxial polydactyly type A (disease)|postaxial polydactyly type A|PAPA postaxial polydactyly type A (disease) SCTID:715704001|OMIM:263450|OMIM:608562|Orphanet:93334|OMIM:607324|OMIM:602085|OMIM:174200|HP:0005696|OMIM:615226|UMLS:C3887487|ICD10:Q69.0 owl:Class UBERON:0010333 biolink:NamedThing extraembryonic membrane mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017411 biolink:NamedThing neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. tmpte7i6ely_mondo_relaxed.owl inflammatory skin and bowel disease, neonatal UMLS:CN228266|OMIMPS:614328|Orphanet:294023|OMIM:616069|OMIM:614328 owl:Class GO:0033342 biolink:NamedThing negative regulation of collagen binding Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. tmpte7i6ely_mondo_relaxed.owl downregulation of collagen binding|down-regulation of collagen binding|inhibition of collagen binding|down regulation of collagen binding owl:Class GO:0051100 biolink:NamedThing negative regulation of binding Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpte7i6ely_mondo_relaxed.owl down regulation of binding|down-regulation of binding|downregulation of binding|inhibition of binding owl:Class OBI:0100026 biolink:NamedThing organism A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. tmpte7i6ely_mondo_relaxed.owl WEB: http://en.wikipedia.org/wiki/Organism organism owl:Class UBERON:0001610 biolink:NamedThing lingual artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051037 biolink:NamedThing regulation of transcription involved in meiotic cell cycle Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl regulation of transcription, meiotic|meiotic regulation of transcription owl:Class MONDO:0015194 biolink:NamedThing sideroblastic anemia Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. tmpte7i6ely_mondo_relaxed.owl sideroblastic anemia|anemia sideroblastic|anemia, sideroblastic|anemia, hypochromic with iron loading UMLS:C0002896|NCIT:C36078|MESH:D000756|DOID:8955|ICD10:D64.1|ICD10:D64.3|GARD:0000667|Orphanet:1047|ICD9:285.0|ICD10:D64.0|SCTID:41841004|ICD10:D64.2|MedDRA:10040661 owl:Class GO:0010795 biolink:NamedThing regulation of ubiquinone biosynthetic process Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001268 biolink:NamedThing snRNA_gene A gene that encodes a small nuclear RNA. tmpte7i6ely_mondo_relaxed.owl snRNA gene|small nuclear RNA gene owl:Class SO:0002342 biolink:NamedThing sncRNA_gene A ncRNA_gene (SO:0001263) that is less than 200 nucleotides in length. tmpte7i6ely_mondo_relaxed.owl small non-coding RNA gene|sncRNA gene owl:Class MONDO:0007481 biolink:NamedThing Leri-Weill dyschondrosteosis LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. tmpte7i6ely_mondo_relaxed.owl LWD|Leri-Weill syndrome|dyschondrosteosis|LC)ri-Weill syndrome|Léri-Weill syndrome|Leri Weill dyschondrosteosis|Madelung deformity|Leri-Weill dyschondrosteosis|LC)ri-Weill dyschondrosteosis|Léri-Weill dyschondrosteosis|DCo ICD9:756.59|NCIT:C126560|UMLS:C0265309|GARD:0003224|SCTID:17818006|DOID:0060847|Orphanet:35688|OMIM:127300|ICD10:Q77.8|Orphanet:240 https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis owl:Class HGNC:10990 biolink:NamedThing SLC25A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044744 biolink:NamedThing prekallikrein deficiency A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. tmpte7i6ely_mondo_relaxed.owl prekallikrein deficiency NCIT:C99022|SCTID:48976006 owl:Class HGNC:11633 biolink:NamedThing TCF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009371 biolink:NamedThing 3-hydroxyisobutyric aciduria 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl disorder of valine metabolism|3-hydroxyisobutyric aciduria SCTID:237957007|UMLS:C0342737|MESH:C535312|OMIM:236795|Orphanet:939|ICD9:791.9|ICD10:E71.1|GARD:0005662 https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria owl:Class MONDO:0037870 biolink:NamedThing valine metabolism disease A disease that has its basis in the disruption of valine metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of valine metabolic process|valine metabolic process disease|disorder of valine metabolism SCTID:444756000|UMLS:C2919304 owl:Class MONDO:0014106 biolink:NamedThing hypogonadotropic hypogonadism 20 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene. tmpte7i6ely_mondo_relaxed.owl FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 20 with or without anosmia|HH20|hypogonadotropic hypogonadism caused by mutation in FGF17 OMIM:615270|UMLS:C3808983|ICD10:E23.0|DOID:0090082 owl:Class MONDO:0018800 biolink:NamedThing Kallmann syndrome Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). tmpte7i6ely_mondo_relaxed.owl Olfacto-genital pathological sequence|Kallman's syndrome|Kallman syndrome|congenital hypogonadotropic hypogonadism with anosmia|hypogonadotropic hypogonadism with anosmia|familial hypogonadism with anosmia|hypogonadism with anosmia OMIM:614837|OMIM:614840|OMIM:615266|OMIM:147950|SCTID:93559003|OMIM:610628|NCIT:C75479|MESH:D017436|OMIM:244200|OMIM:614880|OMIM:615269|UMLS:C0162809|OMIM:614858|MedDRA:10053142|Orphanet:478|OMIM:615271|ICD9:253.4|SCTID:33927004|OMIM:615267|OMIM:612702|OMIM:308700|OMIM:615270|OMIM:612370|OMIM:616030|ICD10:E23.0|OMIM:614838|DOID:3614|GARD:0010771|OMIM:614897 owl:Class MONDO:0003194 biolink:NamedThing hemangioma of lung A hemangioma that involves the lung. tmpte7i6ely_mondo_relaxed.owl lung hemangioma|pulmonary hemangioma DOID:490 owl:Class MONDO:0002732 biolink:NamedThing lung benign neoplasm A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma. tmpte7i6ely_mondo_relaxed.owl tumor of the lung|benign neoplasm of lung|benign neoplasm of the lung|benign lung tumor|benign tumor of the lung|lung benign neoplasm|benign lung neoplasm|benign tumor of lung NCIT:C3200|NCIT:C4454|MESH:D008175|SCTID:126713003|DOID:3683 owl:Class MONDO:0013067 biolink:NamedThing cataract 34 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene. tmpte7i6ely_mondo_relaxed.owl cataract 34, multiple types|cataract, autosomal recessive congenital 3|CATC3|FOXE3 cataract (disease)|CTRCT34|cataract 34 multiple types with or without microcornea|cataract (disease) caused by mutation in FOXE3|autosomal recessive congenital cataract 3|cataract 34, multiple types, with or without microcornea UMLS:C2751822|MESH:C567835|Orphanet:98993|ICD10:Q12.0|Orphanet:91492|OMIM:612968|DOID:0110230 owl:Class MONDO:0019182 biolink:NamedThing inherited obesity tmpte7i6ely_mondo_relaxed.owl genetic obesity|monogenic obesity|genetic obesity (disease) Orphanet:77828|OMIM:601665|ICD10:E66.8 owl:Class MONDO:0011122 biolink:NamedThing obesity disorder A disorder involving an excessive amount of body fat. tmpte7i6ely_mondo_relaxed.owl obesity disease|obesity SCTID:414916001|NIFSTD:nlx_dys_20090302|ICD10:E66.9|ICD9:278.0|UMLS:C0028754|Orphanet:521399|EFO:0001073|Orphanet:71529|NCIT:C3283|ICD9:278.00|HP:0001513|DOID:9970 Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes owl:Class GO:0045596 biolink:NamedThing negative regulation of cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of cell differentiation|inhibition of cell differentiation|down regulation of cell differentiation|downregulation of cell differentiation owl:Class HGNC:26222 biolink:NamedThing FAR1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36885 biolink:NamedThing 20-oxo steroid An oxo steroid carrying an oxo group at position 20. tmpte7i6ely_mondo_relaxed.owl 20-oxo steroids owl:Class CHEBI:35789 biolink:NamedThing oxo steroid tmpte7i6ely_mondo_relaxed.owl oxo steroids|oxosteroids|ketosteroids|keto steroids owl:Class UBERON:0004848 biolink:NamedThing respiratory system arterial endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004702 biolink:NamedThing respiratory system blood vessel endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008607 biolink:NamedThing triphalangeal thumbs-brachyectrodactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Carnevale-Hernández-del Castillo syndrome|triphalangeal thumb and brachy-ectrodactyly syndrome|triphalangeal thumbs brachyectrodactyly|triphalangeal thumbs with brachyectrodactyly|triphalangeal thumb and brachyectrodactyly syndrome OMIM:190680|ICD10:Q74.8|UMLS:C1860804|MESH:C536564|Orphanet:2947|GARD:0005290 owl:Class MONDO:0006321 biolink:NamedThing non-functioning adrenal cortex adenoma An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease. tmpte7i6ely_mondo_relaxed.owl non-functioning adrenal cortex adenoma|non-functioning endocrine neoplasm of adrenal cortex|nonfunctional adrenal cortex adenoma|adrenal cortex non-functioning endocrine neoplasm|non-functioning adrenal cortical adenoma|adrenal cortical incidentaloma UMLS:C1709240|NCIT:C48458|EFO:1000399 owl:Class MONDO:0021119 biolink:NamedThing non-functioning endocrine neoplasm A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl nonfunctional Endocrine neoplasm|endocrine-inactive tumor|non-functioning endocrine neoplasm|nonfunctioning tumor UMLS:C2986656|NCIT:C94760 owl:Class MONDO:0013480 biolink:NamedThing renal hypomagnesemia 6 tmpte7i6ely_mondo_relaxed.owl hypomagnesemia 6, renal|renal hypomagnesemia-6|renal hypomagnesemia type 6|HOMG6 DOID:0060884|Orphanet:34527|GARD:0012155|OMIM:613882|ICD10:E83.4|UMLS:C3151295 https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 owl:Class MONDO:0018101 biolink:NamedThing familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. tmpte7i6ely_mondo_relaxed.owl ICD10:E83.4|OMIM:616418|UMLS:C4510731|UMLS:CN204443|OMIM:613882|OMIM:611718|SCTID:725031005|Orphanet:34527 owl:Class GO:0016202 biolink:NamedThing regulation of striated muscle tissue development Any process that modulates the frequency, rate or extent of striated muscle development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020604 biolink:NamedThing X-linked dominant disease X-linked dominant form of disease. tmpte7i6ely_mondo_relaxed.owl DOID:0080009 owl:Class MONDO:0001265 biolink:NamedThing schizophreniform disorder A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning. tmpte7i6ely_mondo_relaxed.owl SCTID:88975006|NCIT:C94376|DOID:11328|ICD9:295.4|ICD10:F20.81 owl:Class MONDO:0005485 biolink:NamedThing psychotic disorder An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities. tmpte7i6ely_mondo_relaxed.owl psychosis|mental or behavioural disorder DOID:2468|SCTID:69322001|ICD9:298.8|EFO:0005407|ICD9:298.9|HP:0000709|NCIT:C78576|EFO:0000677 owl:Class MONDO:0010993 biolink:NamedThing Harrod syndrome Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. tmpte7i6ely_mondo_relaxed.owl cranio-facio-digito-genital syndrome|craniofacial digital genital anomalies|Harrod syndrome|Harrod Doman Keele syndrome OMIM:601095|GARD:0002601|SCTID:716089008|ICD10:Q87.8|MESH:C535635|Orphanet:2115|UMLS:C0795970 owl:Class MONDO:0014142 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy limb-girdle type 2T|muscular dystrophy, limb-girdle, type 2T|MDDGC14|GMPPB autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|limb-girdle muscular dystrophy type 2T|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|LGMD-GMPPB related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14|muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|LGMD2T ICD10:G71.2|ICD10:G71.0|DOID:0110294|OMIM:615352|Orphanet:363623|GARD:0012544|UMLS:C3714932 owl:Class MONDO:0016898 biolink:NamedThing partial monosomy of the short arm of chromosome 20 tmpte7i6ely_mondo_relaxed.owl partial monosomy 20p|monosomy 20p|partial monosomy of chromosome 20p|20p deletion|Pure partial 20p deletion|partial deletion of chromosome 20p|20p monosomy|partial deletion of the short arm of chromosome 20|chromosome 20p deletion|partial monosomy of the short arm of chromosome type 20|deletion 20p ICD10:Q93.5|UMLS:CN036364|GARD:0003739|Orphanet:261992|MESH:C535370 owl:Class MONDO:0016882 biolink:NamedThing partial deletion of chromosome 20 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 20|partial deletion of chromosome type 20 ICD10:Q93.5|Orphanet:261846 owl:Class HGNC:4948 biolink:NamedThing HLA-DRB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007431 biolink:NamedThing dens in dente and palatal invaginations tmpte7i6ely_mondo_relaxed.owl dens in dente and palatal INVAGINATIONS OMIM:125300|GARD:0010069|MESH:C538211|UMLS:C1852250 owl:Class CL:0000166 biolink:NamedThing chromaffin cell A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. tmpte7i6ely_mondo_relaxed.owl phaeochromocyte BTO:0000259|FMA:69263 cell owl:Class MONDO:0018067 biolink:NamedThing triploidy Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl triploid syndrome|chromosome triploidy syndrome|triploidy syndrome GARD:0005295|ICD9:758.89|Orphanet:3376|SCTID:66651005|MESH:D057885|ICD10:Q92.7|UMLS:C0333693|NCIT:C85204 https://rarediseases.info.nih.gov/diseases/5295/triploidy owl:Class MONDO:0007251 biolink:NamedThing campomelic dysplasia Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). tmpte7i6ely_mondo_relaxed.owl CMPD1|acampomelic campomelic dysplasia|Cmpd|camptomelic dysplasia|Cmpd1/Sra1|campomelic dysplasia|campomelic dwarfism|acampomelic campomelic dysplasia with autosomal Sex reversal|campomelic dysplasia with autosomal Sex reversal|Cmd1|CMD NCIT:C84609|MESH:D055036|Orphanet:140|OMIM:114290|GARD:0010027|ICD9:733.29|ICD10:Q87.1|OMIM:602196|UMLS:C1861922|OMIM:211990|SCTID:74928006|UMLS:C1861923|DOID:0050463 Editor note: consider adding grouping class for related disorders owl:Class MONDO:0021093 biolink:NamedThing cranioectodermal dysplasia 1 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. tmpte7i6ely_mondo_relaxed.owl Levin syndrome 1|IFT122 cranioectodermal dysplasia|cranioectodermal dysplasia type 1|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia 1|Sensenbrenner syndrome|CED1 OMIM:218330|UMLS:C0432235|Orphanet:1515 owl:Class MONDO:0009954 biolink:NamedThing Ramon syndrome tmpte7i6ely_mondo_relaxed.owl Ramon syndrome|gingival fibromatosis combined with cherubism|cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth UMLS:C0796133|Orphanet:3019|MESH:C535285|ICD10:Q87.8|GARD:0007523|OMIM:266270 https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome owl:Class MONDO:0016225 biolink:NamedThing specific learning disability Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V) tmpte7i6ely_mondo_relaxed.owl specific learning difficulty|specific learning disorder MESH:D000067559|Orphanet:211047|UMLS:CN226885 owl:Class MONDO:0021506 biolink:NamedThing benign neoplasm of spinal cord A benign neoplasm that involves the spinal cord. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the spinal cord|spinal cord benign neoplasm|benign spinal cord tumor|benign spinal cord neoplasm|benign tumor of spinal cord|benign tumor of the spinal cord|spinal cord neoplasm, benign SCTID:92405007|ICD10:D33.4|NCIT:C3627|ICD9:225.3|UMLS:C0154034 owl:Class MONDO:0000628 biolink:NamedThing central nervous system organ benign neoplasm A benign neoplasm that involves the central nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system benign neoplasm DOID:0060090 owl:Class GO:2000225 biolink:NamedThing negative regulation of testosterone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012058 biolink:NamedThing myocardial infarction, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl myocardial infarction, susceptibility to, 2|myocardial infarction, susceptibility to, type 2|Mci2 OMIM:608557|UMLS:C1837871 owl:Class MONDO:0003231 biolink:NamedThing acute nonparalytic poliomyelitis A poliomyelitis that does not exhibit paralysis. tmpte7i6ely_mondo_relaxed.owl non-paralytic aseptic meningitis|acute nonparalytic poliomyelitis|nonparalytic poliomyelitis ICD9:045.20|SCTID:14535005|UMLS:C0152998|ICD10:A80.4|ICD9:045.2|ICD9:045.22|ICD9:045.23|DOID:4986 owl:Class MONDO:0017373 biolink:NamedThing poliomyelitis An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. tmpte7i6ely_mondo_relaxed.owl Polia|acute poliomyelitis|infantile paralysis|poliomyelitis|polio DOID:4953|ICD9:045.92|UMLS:C0032371|ICD10:A80.4|ICD10:A80.1|ICD10:A80|MESH:D011051|ICD10:A80.3|ICD10:A80.9|SCTID:398102009|NCIT:C35550|EFO:0007450|GARD:0007413|ICD9:045.9|ICD9:045|ICD9:045.90|MedDRA:10036012|ICD10:A80.0|ICD10:A80.2|Orphanet:2912 owl:Class ENVO:01000254 biolink:NamedThing environmental system A system which has the disposition to environ one or more material entities. tmpte7i6ely_mondo_relaxed.owl environment owl:Class HGNC:7715 biolink:NamedThing NDUFS8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000596 biolink:NamedThing paraphilic disorder Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) tmpte7i6ely_mondo_relaxed.owl paraphilia disorder|Sex deviation|disorder of sexual preference|paraphilia|paraphilic disorder|Sex Deviations|deviation, Sex|Paraphilias|disorders, Paraphilic|Deviations, Sex|disorder, Paraphilic SCTID:50299009|MESH:D010262|DOID:0060044 owl:Class UBERON:0009978 biolink:NamedThing epicondyle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021507 biolink:NamedThing benign neoplasm of brain stem A benign neoplasm that involves the brainstem. tmpte7i6ely_mondo_relaxed.owl benign brain stem neoplasm|benign neoplasm of the brain stem|benign tumor of the brainstem|benign tumor of brain stem|benign tumors of the brainstem|benign brain stem tumor|benign neoplasm of brainstem|benign brainstem tumor|benign neoplasm of the brainstem|benign tumor of brainstem|benign tumors of brainstem|benign neoplasms of brainstem|benign brainstem neoplasms|brainstem benign neoplasm|benign brainstem neoplasm|benign neoplasms of the brainstem|benign brain stem neoplasms|benign brainstem tumors|benign tumor of the brain stem UMLS:C0686400|NCIT:C8549|SCTID:92029009 owl:Class HP:0000370 biolink:NamedThing Abnormality of the middle ear An abnormality of the middle ear. tmpte7i6ely_mondo_relaxed.owl Middle ear abnormalities|Middle ear abnormality UMLS:C1861141 human_phenotype owl:Class HP:0031703 biolink:NamedThing Abnormal ear morphology Any structural anomaly of the ear. tmpte7i6ely_mondo_relaxed.owl 2017-12-18 00:20:14+00:00 Fyler:4867 peter human_phenotype owl:Class MONDO:0006295 biolink:NamedThing malignant urinary system neoplasm A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. tmpte7i6ely_mondo_relaxed.owl malignant renal system neoplasm|renal system cancer|malignant urinary tract neoplasm|malignant urinary system neoplasm|malignant neoplasm of renal system|cancer of renal system|urinary system cancer SCTID:448233000|DOID:3996|ICD10:C68.9|ICD9:189.9|ICD10:C64.C68|EFO:1000363|NCIT:C9297 owl:Class HGNC:29242 biolink:NamedThing SH3PXD2B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009893 biolink:NamedThing positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpte7i6ely_mondo_relaxed.owl stimulation of metabolic process|positive regulation of metabolism|up-regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|up regulation of metabolic process|positive regulation of multicellular organismal metabolic process|upregulation of metabolic process|up-regulation of organismal metabolic process|stimulation of organismal metabolic process owl:Class GO:0019222 biolink:NamedThing regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpte7i6ely_mondo_relaxed.owl regulation of multicellular organismal metabolic process|regulation of organismal metabolic process|regulation of metabolism owl:Class MONDO:0015903 biolink:NamedThing hyperalphalipoproteinemia An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. tmpte7i6ely_mondo_relaxed.owl HALP1 ICD10:E78.4|UMLS:C0342883|SCTID:238080004|NCIT:C128806|Orphanet:181428|ICD9:272.4 owl:Class UBERON:0000019 biolink:NamedThing camera-type eye tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008343 biolink:NamedThing intestinal villus of jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001213 biolink:NamedThing intestinal villus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010978 biolink:NamedThing portal vein, cavernous transformation of tmpte7i6ely_mondo_relaxed.owl portal vein, cavernous transformation of UMLS:C1832917|MESH:C563407|OMIM:601004 owl:Class MONDO:0017312 biolink:NamedThing Perrault syndrome Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl gonadal dysgenesis, XX type, with deafness|XX gonodal dysgenesis-deafness syndrome|Perrault syndrome UMLS:CN239459|SCTID:93466004|OMIM:614129|GARD:0002542|OMIM:233400|Orphanet:2855|OMIMPS:233400|DOID:0050857|ICD10:Q87.8|OMIM:616138|OMIM:614926|OMIM:615300|UMLS:C0685838 owl:Class MONDO:0014690 biolink:NamedThing dyskeratosis congenita, autosomal dominant 6 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1. tmpte7i6ely_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 7|DKCA6|dyskeratosis congenita, autosomal dominant type 6|autosomal dominant dyskeratosis congenita 6|dyskeratosis congenita, autosomal dominant 6 Orphanet:397692|DOID:0070023|OMIM:616553|UMLS:C4225284|Orphanet:3322 owl:Class MONDO:0018340 biolink:NamedThing hereditary isolated aplastic anemia tmpte7i6ely_mondo_relaxed.owl OMIM:616553|ICD10:D61.0|Orphanet:397692 owl:Class MONDO:0003635 biolink:NamedThing sebaceous breast carcinoma A very rare breast adenocarcinoma with sebaceous differentiation. tmpte7i6ely_mondo_relaxed.owl breast sebaceous adenocarcinoma|sebaceous adenocarcinoma of breast|sebaceous breast carcinoma NCIT:C40369|UMLS:C1519207|DOID:5760 owl:Class UBERON:0003434 biolink:NamedThing wrist nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003448 biolink:NamedThing manus nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000625 biolink:NamedThing Eyelid coloboma A short discontinuity of the margin of the lower or upper eyelid. tmpte7i6ely_mondo_relaxed.owl Notched eyelid|Cleft eyelid|Full thickness defect of the eyelid|Eyelid coloboma UMLS:C0521573|SNOMEDCT_US:95202004 The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. human_phenotype owl:Class HP:0011226 biolink:NamedThing Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. tmpte7i6ely_mondo_relaxed.owl Failure of development of eyelid|Hypotrophic eyelid UMLS:C4023453 peter 2011-12-13T08:38:23Z human_phenotype owl:Class MONDO:0020303 biolink:NamedThing Angelman syndrome due to paternal uniparental disomy of chromosome 15 tmpte7i6ely_mondo_relaxed.owl Angelman syndrome due to paternal uniparental disomy of chromosome type 15|UPD(15)pat ICD10:Q93.5|UMLS:CN207117|Orphanet:98795 owl:Class MONDO:0021065 biolink:NamedThing pleural neoplasm A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura. tmpte7i6ely_mondo_relaxed.owl neoplasm of pleura|tumor of pleura|pleural cavity neoplasm (disease)|neoplasm of pleural cavity|pleura neoplasm (disease)|pleural neoplasm|pleura tumor|tumor of the pleura|pleura neoplasm|pleural tumor|neoplasm of the pleura|pleural cavity tumor NCIT:C3332|SCTID:126719004|ONCOTREE:PLEURA|UMLS:C0032229 owl:Class MONDO:0002037 biolink:NamedThing pleural disorder A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. tmpte7i6ely_mondo_relaxed.owl disease of pleura|pleura disease or disorder|pleura disease|pleural disorders|pleural disorder|disease or disorder of pleura|disorder of pleura|non-neoplastic pleural disease MESH:D010995|NCIT:C26859|ICD9:518.89|UMLS:C0032226|DOID:1532|SCTID:88075009 owl:Class MONDO:0016532 biolink:NamedThing Lennox-Gastaut syndrome Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. tmpte7i6ely_mondo_relaxed.owl LGS|epileptic encephalopathy Lennox-Gastaut type|macrocephaly and epileptic encephalopathy|Lennox syndrome|encephalopathy of childhood GARD:0009912|MedDRA:10048816|SCTID:230418006|OMIM:615369|OMIM:616346|OMIM:617113|DOID:0050561|UMLS:C0238111|MESH:D065768|Orphanet:2382|ICD10:G40.4|OMIM:606369|NCIT:C84816 https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome owl:Class MONDO:0020072 biolink:NamedThing childhood-onset epilepsy syndrome A epilepsy syndrome that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood epilepsy syndrome|pediatric epilepsy syndrome|epilepsy syndrome of childhood|childhood-onset epilepsy syndrome Orphanet:98259|ICD10:G40.4|UMLS:CN206976 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0011053 biolink:NamedThing intellectual disability-sparse hair-brachydactyly syndrome Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. tmpte7i6ely_mondo_relaxed.owl intellectual disability-sparse hair-brachydactyly syndrome|SMARCA2-related BAFopathy|NICOLAIDES-Baraitser syndrome|NBs|NCBRS|Nicolaides-Baraitser syndrome|sparse hair and mental retardation|sparse hair and intellectual disability Orphanet:3051|OMIM:601358|GARD:0000270|UMLS:C1303073|MESH:C536116|SCTID:401046009 owl:Class MONDO:0012889 biolink:NamedThing sarcoidosis, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl SS3|sarcoidosis, susceptibility to, 3 OMIM:612388|Orphanet:797 owl:Class MONDO:0019338 biolink:NamedThing sarcoidosis Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. tmpte7i6ely_mondo_relaxed.owl sarcoid|Boeck's sarcoid|besnier-Boeck-Schaumann syndrome|benign lymphogranulomatosis of Schaumann|Boeck's sarcoidosis|Besnier-Boeck-Schaumann disease|Boeck sarcoid|lymphogranulomatosis|lupus pernio of Besnier|sarcoidosis|miliary lupoid of boeck|Darier-Roussy sarcoid ICD10:D86.3|OMIM:181000|DOID:11335|Orphanet:797|ICD10:D80-D89|ICD10:D86.0|MedDRA:10039486|ICD10:D86.1|ICD9:135|SCTID:31541009|ICD10:D86.9|NCIT:C34995|OMIM:612387|ICD10:D86|ICD10:D86.2|ICD10:D86.8|UMLS:C0036202|MESH:D012507|OMIM:612388 Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease owl:Class UBERON:0000005 biolink:NamedThing chemosensory organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003967 biolink:NamedThing synchronous multifocal osteogenic sarcoma A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis. tmpte7i6ely_mondo_relaxed.owl synchronous multifocal osteosarcoma UMLS:C1336544|NCIT:C6471|DOID:6696 owl:Class MONDO:0002622 biolink:NamedThing multifocal osteogenic sarcoma A primary bone osteosarcoma affecting multiple bone sites. tmpte7i6ely_mondo_relaxed.owl multifocal osteosarcoma|multicentric osteosarcoma UMLS:C1334820|DOID:3360|NCIT:C6470 owl:Class HGNC:11194 biolink:NamedThing SOX18 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007751 biolink:NamedThing hypercholesterolemia, autosomal dominant, type B tmpte7i6ely_mondo_relaxed.owl hypercholesterolemia, familial, due to ligand-defective apolipoprotein B|hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial ligand-defective|apolipoprotein B-100, familial defective SCTID:238081000|OMIM:144010 owl:Class MONDO:0005124 biolink:NamedThing leprosy Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. tmpte7i6ely_mondo_relaxed.owl Hansen's disease|Mycobacterium leprae infectious disease|Mycobacterium leprae caused disease or disorder|Mycobacterium leprae disease or disorder|Hansen disease OMIM:607572|ICD10:A30.1|OMIM:613223|ICD9:030.9|OMIM:609888|OMIM:613407|ICD9:030.8|Orphanet:548|ICD10:A30.3|MedDRA:10024229|OMIM:610988|ICD10:A30.4|ICD10:A30.5|OMIM:246300|UMLS:C0023343|EFO:0001054|GARD:0006886|ICD10:A30.0|ICD10:A30.8|ICD9:030|SCTID:81004002|ICD10:A30|ICD10:A30.2|ICD10:A30.9|DOID:1024|MESH:D007918|NCIT:C84824 owl:Class UBERON:0014851 biolink:NamedThing chorda tendinea of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005994 biolink:NamedThing chorda tendineae tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020467 biolink:NamedThing mosaic monosomy X tmpte7i6ely_mondo_relaxed.owl XX/XO|Mosaic Turner syndrome|Mosaic monosomy type X UMLS:C4040907|ICD10:Q96.3|Orphanet:99228|ICD10:Q96.4|UMLS:CN776903|SCTID:710010005 Editor note: add qualifier for mosaicism owl:Class MONDO:0020639 biolink:NamedThing monosomy A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. tmpte7i6ely_mondo_relaxed.owl monosomy MESH:D009006|NCIT:C3239 owl:Class GO:0044106 biolink:NamedThing cellular amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015619 biolink:NamedThing non-syndromic urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic urogenital tract malformation|isolated urogenital tract malformation Orphanet:165704 owl:Class MONDO:0019356 biolink:NamedThing urogenital tract malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:83001 owl:Class MONDO:0021084 biolink:NamedThing vision disorder Any impairment to the vision. tmpte7i6ely_mondo_relaxed.owl disorder of visual system|visual system disorder|visual disorder|visual Field disorder|vision disorder|disorder of vision SCTID:95677002|UMLS:C0042790|MESH:D014786|NCIT:C35126 owl:Class MONDO:0014944 biolink:NamedThing short stature-brachydactyly-obesity-global developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl SBIDDS|short stature, brachydactyly, intellectual developmental disability, and seizures UMLS:C4310689|Orphanet:464288|OMIM:617157 owl:Class MONDO:0011464 biolink:NamedThing spinocerebellar ataxia type 11 Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 11|spinocerebellar ataxia 11|SCA11 DOID:0050961|UMLS:C4304886|SCTID:719207000|GARD:0010475|OMIM:604432|Orphanet:98767|ICD10:G11.8|MESH:C565772|UMLS:C1858351 owl:Class MONDO:0019793 biolink:NamedThing autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. tmpte7i6ely_mondo_relaxed.owl ADCA3|Pure cerebellar syndrome-mild pyramidal signs syndrome|autosomal dominant cerebellar ataxia type III|autosomal dominant cerebellar ataxia type 3|ADCAIII ICD10:G11.8|UMLS:CN206746|Orphanet:94148 owl:Class MONDO:0001158 biolink:NamedThing obsessive-compulsive personality disorder A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics. tmpte7i6ely_mondo_relaxed.owl obsessional personality|OCD|OCPD|anankastic personality disorder ICD9:301.4|MESH:D003193|SCTID:1376001|ICD10:F60.5|NCIT:C92638|DOID:10932 owl:Class MONDO:0002028 biolink:NamedThing personality disorder A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. tmpte7i6ely_mondo_relaxed.owl personality disorder (disease)|character disorder|personality disorder personality disorder (disease) HP:0012075|ICD9:301.89|ICD9:301.9|NCIT:C34922|SCTID:33449004|DOID:1510|ICD9:301.8 owl:Class NCBITaxon:39107 biolink:NamedThing Murinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:109679 ncbi_taxonomy owl:Class NCBITaxon:10066 biolink:NamedThing Muridae tmpte7i6ely_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015774 biolink:NamedThing thoraco-abdominal enteric duplication Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. tmpte7i6ely_mondo_relaxed.owl thoraco abdominal enteric duplication Orphanet:1759|SCTID:733628001|ICD10:Q43.4|GARD:0005181 https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication owl:Class MONDO:0004143 biolink:NamedThing psammomatous meningioma A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells. tmpte7i6ely_mondo_relaxed.owl psammomatous meningioma (morphologic abnormality) MESH:D008579|NCIT:C4331|DOID:7210|UMLS:C0334607|ICDO:9533/0|EFO:1000500 owl:Class CHEBI:8058 biolink:NamedThing phencyclidine A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group. Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects. tmpte7i6ely_mondo_relaxed.owl fenciclidina|1-(1-phenylcyclohexyl)piperidine|phencyclidinum|PCP|Phencyclidine|phencyclidine owl:Class CHEBI:26151 biolink:NamedThing piperidines tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:455381 biolink:NamedThing Capillariidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0140537 biolink:NamedThing transcription regulator activator activity A molecular function regulator that increases the activity of a transcription regulator via direct binding and/or post-translational modification. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003680 biolink:NamedThing periosteal chondrosarcoma A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. tmpte7i6ely_mondo_relaxed.owl periosteum chondrosarcoma (disease)|periosteal chondrosarcoma|juxtacortical chondrosarcoma (morphologic abnormality)|juxtacortical chondrosarcoma|chondrosarcoma (disease) of periosteum UMLS:C0334549|DOID:5866|DOID:5859|ICDO:9221/3|NCIT:C7357 MONDO:0003683 owl:Class MONDO:0006533 biolink:NamedThing cholesteatoma of middle ear A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. tmpte7i6ely_mondo_relaxed.owl middle ear cholesteatoma (disease)|cholesteatoma of middle ear|cholesteatoma of the middle ear|unspecified cholesteatoma (morphologic abnormality)|cholesteatoma of middle ear and mastoid|Epidermosis of ear|Epidermosis of middle ear|cholesteatoma of middle ear and/or mastoid|middle ear cholesteatoma|cholesteatoma (disease) of middle ear UMLS:C0155490|SCTID:194339007|ICD9:385.33|ICD9:385.32|ICD9:385.3|DOID:10964|EFO:1000678|ICD10:H71|NCIT:C3654|MESH:D018424 owl:Class MONDO:0003276 biolink:NamedThing middle ear disorder A disease involving the middle ear. tmpte7i6ely_mondo_relaxed.owl disorder of middle ear|middle ear disease|middle ear disease or disorder|disease or disorder of middle ear|middle Ear disorder|disease of middle ear DOID:5100|SCTID:68996008|UMLS:C0271428|NCIT:C27065 owl:Class MONDO:0400002 biolink:NamedThing calcium-alkali syndrome The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. tmpte7i6ely_mondo_relaxed.owl milk-alkali syndrome owl:Class MONDO:0005557 biolink:NamedThing calcium metabolic disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. tmpte7i6ely_mondo_relaxed.owl calcium metabolism disorder|disorder of calcium metabolism|calcium metabolism disease MESH:D002128|SCTID_2010_1_31:71638002|ICD10:E83.5|ICD10:E83.50|DOID:10575|SCTID_2010_1_31:267442002|ICD9:275.4|UMLS:C0006705|ICD9:275.40|ICD9:275.49|EFO:0005769|SCTID_2010_1_31:190863003|SCTID:71638002|SCTID_2010_1_31:190874007 Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. owl:Class HGNC:6990 biolink:NamedThing MECP2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35692 biolink:NamedThing dicarboxylic acid Any carboxylic acid containing two carboxy groups. tmpte7i6ely_mondo_relaxed.owl Dicarboxylic acid|dicarboxylic acids owl:Class MONDO:0021211 biolink:NamedThing brain neoplasm A neoplasm (disease) that involves the brain. tmpte7i6ely_mondo_relaxed.owl tumor of brain|neoplasm of the brain|neoplasm of brain|brain neoplasm (disease)|brain tumor|brain neoplasms|tumor of the Brain NCIT:C2907 owl:Class GO:0034645 biolink:NamedThing cellular macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular macromolecule synthesis|cellular macromolecule formation|cellular macromolecule anabolism|cellular biopolymer biosynthetic process|cellular macromolecule biosynthesis owl:Class MONDO:0008185 biolink:NamedThing hereditary chronic pancreatitis Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas. tmpte7i6ely_mondo_relaxed.owl Hp|HPC|pancreatitis, chronic, susceptibility to|pancreatitis, hereditary|familial pancreatitis|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|hereditary pancreatitis|pancreatitis, chronic|autosomal dominant hereditary pancreatitis|pancreatitis, chronic, protection against, included|hereditary chronic pancreatitis|pancreatitis, calcific, included|pancreatitis, calcific|pancreatitis, chronic, protection against|PCTT SCTID:68072000|ICD10:K86.1|ICD9:577.8|Orphanet:676|MESH:C537262|OMIM:167800|NCIT:C95436|GARD:0006632 https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis owl:Class MONDO:0005003 biolink:NamedThing chronic pancreatitis A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl pancreatitis, chronic UMLS:C0149521|OMIM:608189|SCTID:235494005|OMIM:167800|EFO:0000342|MESH:D050500|NCIT:C84637|ICD9:577.1 owl:Class MONDO:0019355 biolink:NamedThing adult-onset Still disease A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. tmpte7i6ely_mondo_relaxed.owl Still's disease adult onset|adult onset Still's disease|adult Still's disease|adult-onset Still disease|AOSD|Wissler-Fanconi syndrome|adult-onset Still's disease ICD9:759.89|EFO:0007135|SCTID:68190001|ICD9:714.2|MESH:D016706|SCTID:239920006|DOID:14256|GARD:0000436|ICD10:M06.1|UMLS:C0085253|MedDRA:10064056|UMLS:CN206037|MedDRA:10058493|Orphanet:829 https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease owl:Class MONDO:0014371 biolink:NamedThing developmental and epileptic encephalopathy, 23 tmpte7i6ely_mondo_relaxed.owl DEE18|early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epileptic encephalopathy, early infantile, type 23|EIEE23|epileptic encephalopathy, early infantile, 23|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|developmental and epileptic encephalopathy, 23 UMLS:C4014492|Orphanet:411986|DOID:0080415|OMIM:615859|ICD10:G40.4 owl:Class MONDO:0001204 biolink:NamedThing esophagus sarcoma A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of esophagus|sarcoma, esophagus|sarcoma of the esophagus|esophagus sarcoma|esophageal sarcoma UMLS:C1333466|DOID:1114|NCIT:C5341 owl:Class UBERON:0000403 biolink:NamedThing scalp tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034921 biolink:NamedThing multi organ part structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015623 biolink:NamedThing cavitary myiasis Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. tmpte7i6ely_mondo_relaxed.owl Orphanet:165958|SCTID:764811001|ICD10:B87.8 owl:Class MONDO:0019147 biolink:NamedThing myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. tmpte7i6ely_mondo_relaxed.owl infestation by maggots|myiasis, unspecified|maggot infestation|infestation by fly larvae ICD10:B87.4|ICD10:B87.1|MESH:D009198|MedDRA:10028586|ICD10:B87.8|ICD10:B87.2|ICD9:134.0|ICD10:B87|DOID:11080|ICD10:B87.9|Orphanet:75110|UMLS:C0027030|ICD10:B87.3|NCIT:C128400|EFO:0007389|ICD10:B87.0|SCTID:60412004 owl:Class MONDO:0003497 biolink:NamedThing renal pelvis squamous cell carcinoma A squamous cell carcinoma that involves the renal pelvis. tmpte7i6ely_mondo_relaxed.owl renal pelvis squamous cell cancer|squamous cell carcinoma of the kidney pelvis|epidermoid carcinoma of the kidney pelvis|kidney pelvis epidermoid carcinoma|kidney renal pelvis squamous cell cancer|squamous cell carcinoma of renal pelvis|renal pelvis epidermoid carcinoma|kidney pelvis squamous cell carcinoma|epidermoid carcinoma of renal pelvis|epidermoid carcinoma of the renal pelvis|renal pelvis squamous cell carcinoma|epidermoid carcinoma of kidney pelvis|squamous cell carcinoma of kidney pelvis|squamous cell carcinoma of the renal pelvis DOID:5534|NCIT:C7732|UMLS:C0238409 owl:Class MONDO:0001355 biolink:NamedThing ocular siderosis A hemosiderosis that involves the camera-type eye. tmpte7i6ely_mondo_relaxed.owl siderosis of globe|camera-type eye hemosiderosis|siderosis of eye|hemosiderosis of camera-type eye|siderosis bulbi ICD10:H44.32|DOID:11754|ICD9:360.23|UMLS:C0271001|SCTID:25277000 owl:Class MONDO:0005551 biolink:NamedThing eye allergy An allergic disease involving a pathogenic inflammatory response in the camera-type eye. tmpte7i6ely_mondo_relaxed.owl EFO:0005751 owl:Class MONDO:0004144 biolink:NamedThing fibrous meningioma A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix. tmpte7i6ely_mondo_relaxed.owl fibroblastic meningioma|fibrous meningioma (morphologic abnormality) UMLS:C0334606|EFO:1000258|MESH:D008579|DOID:7211|NCIT:C4330|ICDO:9532/0 owl:Class UBERON:4000167 biolink:NamedThing caudal fin skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:4000170 biolink:NamedThing median fin skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014808 biolink:NamedThing congenital secretory sodium diarrhea 8 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. tmpte7i6ely_mondo_relaxed.owl diarrhea 8, secretory sodium, congenital|congenital secretory sodium diarrhea type 8|DIAR8|diarrhea, congenital sodium|secretory diarrhea caused by mutation in SLC9A3|SLC9A3 secretory diarrhea Orphanet:103908|ICD10:P78.3|DOID:0060777|OMIM:616868|UMLS:CN515063 owl:Class MONDO:0000249 biolink:NamedThing secretory diarrhea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. tmpte7i6ely_mondo_relaxed.owl HP:0005208|UMLS:C0267557|SCTID:15699003|DOID:0050129 owl:Class GO:1903941 biolink:NamedThing negative regulation of respiratory gaseous exchange Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange. tmpte7i6ely_mondo_relaxed.owl down-regulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|downregulation of respiratory gaseous exchange|inhibition of respiratory gaseous exchange owl:Class MONDO:0005731 biolink:NamedThing dipetalonemiasis A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. tmpte7i6ely_mondo_relaxed.owl infection by Dipetalonema|Mansonella perstans caused disease or disorder|Dipetalonema infectious disease|Mansonella perstans infectious disease|infection by Dipetalonema perstans (disorder) [ambiguous]|Mansonella perstans|dipetalonemiasis|Acanthocheilonema perstans infection|Acanthocheilonemiasis|infection by Dipetalonema perstans|Mansonella perstans disease or disorder|Dipetalonema infection|Dipetalonema infections MESH:D004154|ICD9:125.4|GARD:0000004|UMLS:C0012517|SCTID:15629006|DOID:14422|EFO:0007237|NCIT:C34540 Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms owl:Class MONDO:0018922 biolink:NamedThing cold agglutinin disease Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C). tmpte7i6ely_mondo_relaxed.owl cold antibody hemolytic anemia|cold antibody disease|chronic cold agglutinin disease|anemia, hemolytic, cold antibody|CAS|cold agglutinin syndrome|CAD UMLS:C1264008|SCTID:127055007|ICD10:D59.1|GARD:0006130|Orphanet:56425|UMLS:CN205305 owl:Class MONDO:0016450 biolink:NamedThing autoimmune hemolytic anemia, cold type Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH). tmpte7i6ely_mondo_relaxed.owl cold AIHA|cAIHA|cAHA UMLS:CN201401|ICD10:D59.1|Orphanet:228312 owl:Class UBERON:0000400 biolink:NamedThing jejunal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043270 biolink:NamedThing positive regulation of ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl activation of ion transport|up-regulation of ion transport|upregulation of ion transport|stimulation of ion transport|up regulation of ion transport owl:Class UBERON:0002346 biolink:NamedThing neurectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021240 biolink:NamedThing tongue neoplasm A neoplasm (disease) that involves the tongue. tmpte7i6ely_mondo_relaxed.owl neoplasm of tongue|neoplasm of the tongue|tumor of tongue|tumor of the tongue|tongue neoplasm (disease)|tongue tumor EFO:0003871|SCTID:126778001|NCIT:C3416 owl:Class ENVO:02000103 biolink:NamedThing metallic dust Dust which is composed primarily of some metallic material. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015721 biolink:NamedThing mild hemophilia A Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpte7i6ely_mondo_relaxed.owl mild factor VIII deficiency|mild hemophilia type A Orphanet:169808|ICD10:D66|SCTID:26029002|UMLS:C0272324 owl:Class MONDO:0010602 biolink:NamedThing hemophilia A The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. tmpte7i6ely_mondo_relaxed.owl hemophilia type a|HEMA|Haemophilia A|factor VIII deficiency|hemophilia, classic|hemophilia type A|hereditary Factor VIII deficiency disease|hereditary Factor VIII deficiency|autosomal hemophilia a|Subhemophilia|hem A|classic hemophilia|hemophilia A|factor 8 deficiency|congenital factor VIII disorder|hemophilia A, congenital|classical hemophilia UMLS:C0019069|Orphanet:98878|SCTID:234440005|MESH:D006467|UMLS:CN239112|MedDRA:10016080|NCIT:C27146|GARD:0006591|ICD9:286.0|ICD10:D66|OMIM:134500|DOID:12134|EFO:0007267|OMIM:306700 owl:Class HGNC:6901 biolink:NamedThing MASP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001635 biolink:NamedThing Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. tmpte7i6ely_mondo_relaxed.owl Cardiac failures|Heart failure|Chronic heart failure|Cardiac insufficiency|Cardiac failure|CHF SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|MSH:D006333|UMLS:C0018802|UMLS:C0018801 HP:0006686 human_phenotype owl:Class MONDO:0010482 biolink:NamedThing X-linked parkinsonism-spasticity syndrome X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. tmpte7i6ely_mondo_relaxed.owl PARKINSONISM with spasticity, X-linked|XPDS Orphanet:363654|ICD10:G20|UMLS:C3806722|OMIM:300911 owl:Class MONDO:0021095 biolink:NamedThing parkinsonian disorder A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. tmpte7i6ely_mondo_relaxed.owl MESH:D020734 Editor note: TODO owl:Class MONDO:0003343 biolink:NamedThing retinal hemangioblastoma A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement. tmpte7i6ely_mondo_relaxed.owl vasculature of retina hemangioblastoma|retinal capillary hemangioblastoma|hemangioblastoma of vasculature of retina|retinal hemangioblastoma NCIT:C39783|DOID:5240|UMLS:C1514915 owl:Class GO:0030186 biolink:NamedThing melatonin metabolic process The chemical reactions and pathways involving melatonin (N-acetyl-5-methoxytryptamine). tmpte7i6ely_mondo_relaxed.owl melatonin metabolism owl:Class MONDO:0009332 biolink:NamedThing congenital hematological disorder A disorder of the blood that is present at birth. tmpte7i6ely_mondo_relaxed.owl congenital hematological system disease|congenital hematological disorder NCIT:C104003 owl:Class MONDO:0004473 biolink:NamedThing epiglottis cancer A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant Epiglottis tumor|epiglottic throat cancer|malignant neoplasm of epiglottis|malignant tumor of the Epiglottis|malignant neoplasm of anterior epiglottis|epiglottic cancer|malignant neoplasm of anterior aspect of epiglottis|epiglottis cancer|malignant tumor of Epiglottis|epiglottic carcinoma|malignant epiglottic tumor|malignant Epiglottis neoplasm|malignant neoplasm of the Epiglottis|cancer of epiglottis|malignant epiglottis neoplasm|malignant neoplasm of anterior surface of epiglottis|malignant neoplasm of Epiglottis|malignant epiglottic neoplasm ICD9:146.4|NCIT:C4836|ICD10:C10.1|NCIT:C35697|DOID:8133|SCTID:187681002 owl:Class GO:0030195 biolink:NamedThing negative regulation of blood coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. tmpte7i6ely_mondo_relaxed.owl down-regulation of blood coagulation|inhibition of blood coagulation|down regulation of blood coagulation|downregulation of blood coagulation owl:Class GO:1900047 biolink:NamedThing negative regulation of hemostasis Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis. tmpte7i6ely_mondo_relaxed.owl down-regulation of hemostasis|down regulation of hemostasis|downregulation of hemostasis|inhibition of hemostasis owl:Class MONDO:0002703 biolink:NamedThing appendix mucinous cystadenocarcinoma An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures. tmpte7i6ely_mondo_relaxed.owl colloidal cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of appendix|appendiceal mucinous cystadenocarcinoma|colloid cystadenocarcinoma of appendix|colloid cystadenocarcinoma of the appendix|appendix colloid cystadenocarcinoma|appendiceal colloidal cystadenocarcinoma|vermiform appendix mucinous cystadenocarcinoma|colloidal cystadenocarcinoma of the appendix|appendiceal colloid cystadenocarcinoma|appendix mucinous cystadenocarcinoma|appendix colloidal cystadenocarcinoma|mucinous cystadenocarcinoma of the appendix UMLS:C1096639|DOID:3607|NCIT:C5511 owl:Class MONDO:0005858 biolink:NamedThing mucinous cystadenocarcinoma An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpte7i6ely_mondo_relaxed.owl mucinous cystadenocarcinoma NOS (morphologic abnormality)|mucinous cystadenocarcinoma (morphologic abnormality)|Pseudomucinous cystadenocarcinoma|Pseudomucinous adenocarcinoma|mucinous cystadenocarcinoma UMLS:C0206699|ICDO:8470/3|NCIT:C3776|DOID:3603|MESH:D018282|EFO:0007378 owl:Class MONDO:0001813 biolink:NamedThing squamous blepharitis tmpte7i6ely_mondo_relaxed.owl ICD10:H01.021-H01.029|UMLS:C0155174|ICD9:373.02|DOID:13825|MEDGEN:509829|SCTID:58912008|ICD10:H01.02 owl:Class MONDO:0004785 biolink:NamedThing blepharitis Inflammation of the eyelids near the eyelashes. tmpte7i6ely_mondo_relaxed.owl inflammation of eyelid|eyelid inflammation ICD9:373.0|ICD9:373.4|NCIT:C112183|ICD9:373.8|ICD9:373.9|ICD10:H01.00|ICD9:373.00|SCTID:41446000|ICD10:H01.9|UMLS:C0005741|MESH:D001762|ICD10:H01.0|DOID:9423 owl:Class UBERON:8300003 biolink:NamedThing right hindlimb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002103 biolink:NamedThing hindlimb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001274 biolink:NamedThing ischium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008202 biolink:NamedThing bone of hip region tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:223472 biolink:NamedThing Psoroptidia tmpte7i6ely_mondo_relaxed.owl Sarcoptidia GC_ID:1 NCBITaxon:261182 ncbi_taxonomy owl:Class NCBITaxon:6951 biolink:NamedThing Astigmata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:41437|NCBITaxon:41440|NCBITaxon:41441 ncbi_taxonomy owl:Class MONDO:0021607 biolink:NamedThing eyelid seborrheic keratosis A seborrheic keratosis that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl seborrheic keratosis of the eyelid|seborrheic keratosis of eyelid|eyelid seborrheic keratosis|basal cell papilloma of eyelid|eyelid basal cell papilloma|basal cell papilloma of the eyelid UMLS:C0339109|SCTID:231826004|NCIT:C4356 owl:Class MONDO:0003382 biolink:NamedThing eyelid disorder A disease involving the eyelid. tmpte7i6ely_mondo_relaxed.owl disease or disorder of eyelid|eyelid disorder|eyelid disease|eyelid disease or disorder|disease of eyelid|disorder of eyelid SCTID:60113004|DOID:530|NCIT:C26768|ICD9:374.9|ICD10:H00|ICD10:H02.9|ICD9:374.89|MESH:D005141 owl:Class MONDO:0005829 biolink:NamedThing louping ill An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep. tmpte7i6ely_mondo_relaxed.owl Louping ill ICD9:063.1|ICD10:A84.8|MESH:D008146|UMLS:C0024025|DOID:10250|EFO:0007348 owl:Class UBERON:0013231 biolink:NamedThing sebaceous gland of eyelid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003484 biolink:NamedThing eye sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006505 biolink:NamedThing basal ganglia cerebrovascular disorder A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). tmpte7i6ely_mondo_relaxed.owl cerebrovascular disorder of collection of basal ganglia|collection of basal ganglia cerebrovascular disorder MESH:D020144|DOID:10991|EFO:1000640|UMLS:C0751739 owl:Class MONDO:0003996 biolink:NamedThing basal ganglia disorder A disease involving the basal ganglia. tmpte7i6ely_mondo_relaxed.owl disorder of basal ganglia|disease of collection of basal ganglia|disease of basal ganglia|disorder of collection of basal ganglia|basal ganglia disease|collection of basal ganglia disease or disorder|collection of basal ganglia disease|disease or disorder of collection of basal ganglia UMLS:C0004782|CSP:2057-3403|DOID:679|ICD9:333.0|MESH:D001480|SCTID:70835005 owl:Class OBO:CHR_9606-chr2p1 biolink:NamedThing 2p1 (Human) tmpte7i6ely_mondo_relaxed.owl 93900000 47500000 hg38 owl:Class NCBITaxon:2732544 biolink:NamedThing Martellivirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732461 biolink:NamedThing Alsuviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002114 biolink:NamedThing pancreas lymphoma A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas. tmpte7i6ely_mondo_relaxed.owl pancreas lymphoma|pancreatic lymphoma|lymphoma of the pancreas|lymphoma of pancreas NCIT:C5714|DOID:1792|UMLS:C1335307 owl:Class UBERON:0039261 biolink:NamedThing pancreatic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009663 biolink:NamedThing mucus inspissation of respiratory tract tmpte7i6ely_mondo_relaxed.owl mucus inspissation of respiratory tract UMLS:C1854729|OMIM:253240|MESH:C565366 owl:Class MONDO:0011264 biolink:NamedThing torsion dystonia 6 Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. tmpte7i6ely_mondo_relaxed.owl torsion dystonia adult onset mixed type|DYT-THAP1|adolescent-onset dystonia of mixed type|generalized cervical and upper-limb-onset dystonia|idiopathic torsion dystonia of mixed type|dystonia 6|generalized isolated dystonia caused by mutation in THAP1|dystonia 6, torsion|torsion dystonia type 6|THAP1 generalized isolated dystonia|primary dystonia, DYT6 type|DYT6|torsion dystonia, adult-onset, mixed type Orphanet:98806|GARD:0009630|DOID:0090039|SCTID:702448007|OMIM:602629|UMLS:C1414216|ICD10:G24.1|MESH:C538003 owl:Class NCBITaxon:2732004 biolink:NamedThing Varidnaviria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10239 biolink:NamedThing Viruses tmpte7i6ely_mondo_relaxed.owl viruses|Vira|Viridae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004756 biolink:NamedThing nasal cavity neoplasm A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl nasal cavity tumor|neoplasm of nasal cavity|nasal cavity neoplasm (disease)|tumor of nasal cavity|neoplasm of the nasal cavity|tumor of the nasal cavity|nasal cavity neoplasm UMLS:C0345630|NCIT:C4413|DOID:9310|SCTID:126670003 owl:Class UBERON:0015061 biolink:NamedThing limb endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004355 biolink:NamedThing childhood leukemia An acute or chronic leukemia that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric leukemia (disease)|childhood leukemia|leukemia (disease) of childhood|childhood leukemia (disease)|leukemia UMLS:C1332977|NCIT:C4989|DOID:7757 owl:Class MONDO:0011498 biolink:NamedThing schizophrenia 9 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2. tmpte7i6ely_mondo_relaxed.owl SCZD9|schizophrenia susceptibility locus, chromosome 1Q42-related|schizophrenia 9|schizophrenia type 9|schizophrenia 9 with or without an affective disorder UMLS:C1858050|DOID:0070085|OMIM:604906 owl:Class MONDO:0000953 biolink:NamedThing cancer of short bone of lower limb tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of short bone of lower limb|malignant neoplasm of short bones of leg SCTID:712525007|ICD9:170.8|ICD10:C40.3|DOID:10151|UMLS:C0153518 owl:Class GO:1900542 biolink:NamedThing regulation of purine nucleotide metabolic process Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of purine metabolism|regulation of purine metabolic process|regulation of purine nucleotide metabolism owl:Class GO:0018271 biolink:NamedThing biotin-protein ligase activity Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein. tmpte7i6ely_mondo_relaxed.owl biotin-apoprotein ligase activity owl:Class GO:1903553 biolink:NamedThing positive regulation of extracellular exosome assembly Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. tmpte7i6ely_mondo_relaxed.owl positive regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly|upregulation of extracellular vesicular exosome assembly owl:Class GO:1903551 biolink:NamedThing regulation of extracellular exosome assembly Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. tmpte7i6ely_mondo_relaxed.owl regulation of extracellular vesicular exosome assembly owl:Class MONDO:0018280 biolink:NamedThing muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts. tmpte7i6ely_mondo_relaxed.owl MEB disease with bilateral multicystic leucodystrophy OMIM:616538|ICD10:G71.2|Orphanet:370997 owl:Class MONDO:0018869 biolink:NamedThing cobblestone lissencephaly Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. tmpte7i6ely_mondo_relaxed.owl lissencephaly type 2 SCTID:253149002|Orphanet:51577|ICD10:Q04.3 owl:Class GO:0061702 biolink:NamedThing inflammasome complex A cytosolic protein complex that is capable of activating caspase-1. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032991 biolink:NamedThing protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. tmpte7i6ely_mondo_relaxed.owl macromolecular complex|protein complex|protein-protein complex|protein containing complex|macromolecule complex owl:Class GO:1902572 biolink:NamedThing negative regulation of serine-type peptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity. tmpte7i6ely_mondo_relaxed.owl inhibition of serine-type peptidase activity|negative regulation of serine protease activity|down-regulation of serine-type peptidase activity|down regulation of serine-type peptidase activity|inhibition of serine protease activity|downregulation of serine-type peptidase activity|down regulation of serine protease activity|down-regulation of serine protease activity|downregulation of serine protease activity owl:Class GO:0032886 biolink:NamedThing regulation of microtubule-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905652 biolink:NamedThing negative regulation of artery morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis. tmpte7i6ely_mondo_relaxed.owl down-regulation of artery morphogenesis|downregulation of arteriogenesis|downregulation of artery morphogenesis|negative regulation of arterial morphogenesis|down-regulation of arterial morphogenesis|down regulation of arterial morphogenesis|downregulation of arterial morphogenesis|negative regulation of arteriogenesis|down regulation of arteriogenesis|down regulation of artery morphogenesis|inhibition of arterial morphogenesis|down-regulation of arteriogenesis|inhibition of artery morphogenesis|inhibition of arteriogenesis owl:Class GO:1905651 biolink:NamedThing regulation of artery morphogenesis Any process that modulates the frequency, rate or extent of artery morphogenesis. tmpte7i6ely_mondo_relaxed.owl regulation of arteriogenesis|regulation of arterial morphogenesis owl:Class MONDO:0018089 biolink:NamedThing double outlet right ventricle Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. tmpte7i6ely_mondo_relaxed.owl Dextrotransposition of aorta|double outlet right ventricle|DORV UMLS:C0013069|GARD:0001908|SCTID:204299009|ICD10:Q20.1|MedDRA:10013611|OMIM:217095|MESH:D004310|NCIT:C98916|DOID:6406|Orphanet:3426 owl:Class MONDO:0002070 biolink:NamedThing ventricular septal defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. tmpte7i6ely_mondo_relaxed.owl VSD|ventricular septal abnormality|heart septal defects, ventricular|ventricular septal defects|ventricular septal defect (disease)|interventricular communication|interventricular septal defect|ventricular septal defect ventricular septal defect (disease) OMIM:614429|Orphanet:1480|OMIM:614432|ICD10:Q21.0|SCTID:30288003|ICD9:745.4|OMIMPS:614429|OMIM:614431|HP:0001629|MESH:D006345|DOID:1657|NCIT:C84506|GARD:0007853 owl:Class MONDO:0005074 biolink:NamedThing papillary cystadenocarcinoma A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. tmpte7i6ely_mondo_relaxed.owl cystadenocarcinoma, papillary, malignant|papillary cystadenocarcinoma|papillary cystadenocarcinoma (morphologic abnormality)|papillary cystadenocarcinoma, NOS (morphologic abnormality) EFO:0000639|MESH:D018283|UMLS:C0206700|ICDO:8450/3|GARD:0010162|NCIT:C3777|DOID:3110 https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma owl:Class MONDO:0100138 biolink:NamedThing X-linked recessive mitochondrial myopathy A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. tmpte7i6ely_mondo_relaxed.owl X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features owl:Class MONDO:0010415 biolink:NamedThing myopathy, reducing body, X-linked, childhood-onset tmpte7i6ely_mondo_relaxed.owl reducing body myopathy, X-linked 1B, with late childhood or adult onset|myopathy, reducing body, X-linked, childhood-onset|RBMX1B OMIM:300718|UMLS:C2678015|MESH:C567468|Orphanet:97239 owl:Class MONDO:0019948 biolink:NamedThing reducing body myopathy Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. tmpte7i6ely_mondo_relaxed.owl OMIM:300718|GARD:0012162|DOID:0080090|Orphanet:97239|OMIM:300717|ICD9:359.89|SCTID:42779002|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy owl:Class PATO:0002422 biolink:NamedThing acinar Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8440004 biolink:NamedThing laminar subdivision of the cortex tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900046 biolink:NamedThing regulation of hemostasis Any process that modulates the frequency, rate or extent of hemostasis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006759 biolink:NamedThing femoral neuropathy Neuropathy of the femoral nerve. tmpte7i6ely_mondo_relaxed.owl femoral nerve peripheral nerve lesion|femoral nerve lesions|femoral nerve dysfunction|peripheral nerve lesion of femoral nerve DOID:4196|SCTID:25690000|NCIT:C27595|ICD9:355.2|ICD10:G57.20|EFO:1000936|MESH:D020428|UMLS:C0751931|ICD10:G57.2 owl:Class MONDO:0024334 biolink:NamedThing peripheral nerve lesion tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17020 biolink:NamedThing IRAK3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012747 biolink:NamedThing glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. tmpte7i6ely_mondo_relaxed.owl glycogenosis due to aldolase A deficiency|aldolase deficiency, Red cell|glycogenosis type 12|GSD type 12|GSD type XII|aldolase a deficiency|GSD 12|GSD12|Aldoa deficiency|aldolase deficiency red cell|GSD due to aldolase A deficiency|glycogen storage disease type XII|glycogenosis type XII|glycogen storage disease type 12|Red cell aldolase deficiency|glycogen storage disease XII|glycogen storage disease due to aldolase A deficiency|glycogen storage disease 12 ICD10:E74.0|UMLS:C0272066|GARD:0000600|ICD9:282.3|Orphanet:57|MESH:C562718|OMIM:611881|SCTID:111578003 owl:Class MONDO:0022067 biolink:NamedThing Cantu sanchez-corona fragoso syndrome tmpte7i6ely_mondo_relaxed.owl severe mental deficiency, proportionate dwarfism, and delayed sexual maturation|severe mental deficiency proportionate dwarfism and delayed sexual maturation GARD:0001081|MESH:C535571|UMLS:C2930937 https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome owl:Class MONDO:0001377 biolink:NamedThing vitreous syneresis tmpte7i6ely_mondo_relaxed.owl vitreous degeneration UMLS:C0155366|ICD10:H43.81|DOID:11816|ICD9:379.21|SCTID:60189009 Editor note: TODO consider cede to HPO owl:Class MONDO:0004860 biolink:NamedThing vitreous disorder A disease involving the vitreous humor. tmpte7i6ely_mondo_relaxed.owl disorder of vitreous humor|vitreous humor disease|disease or disorder of vitreous humor|disease of vitreous humor|vitreous humor disease or disorder ICD10:H43.39|ICD9:379.24|DOID:9720|ICD10:H43.3 owl:Class HGNC:5326 biolink:NamedThing HYMAI tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17883 biolink:NamedThing hydrogen chloride A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. tmpte7i6ely_mondo_relaxed.owl cloruro de hidrogeno|hydrogen chloride|chlorane|chlorure d'hydrogene|Chlorwasserstoff|HCl|Wasserstoffchlorid|Hydrogen chloride|Hydrochloride|chloridohydrogen|hydrochloric acid|[HCl]|Hydrogenchlorid owl:Class CHEBI:18140 biolink:NamedThing hydrogen halide tmpte7i6ely_mondo_relaxed.owl HX|hydrogen halide|hydrogen halides owl:Class UBERON:0010160 biolink:NamedThing lumen of lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001461 biolink:NamedThing elbow tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017415 biolink:NamedThing multiple pterygium syndrome tmpte7i6ely_mondo_relaxed.owl pterygium syndrome ICD10:Q79.8|OMIM:253290|OMIM:312150|OMIM:265000|ICD9:755.8|MESH:C537377|SCTID:205819008|OMIM:178110|Orphanet:294060|DOID:0080110 owl:Class MONDO:0015225 biolink:NamedThing arthrogryposis syndrome tmpte7i6ely_mondo_relaxed.owl arthrogryposis syndrome Orphanet:109007|ICD10:Q68.8 owl:Class HGNC:23631 biolink:NamedThing NPSR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100547 biolink:NamedThing Abnormality of forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. tmpte7i6ely_mondo_relaxed.owl Abnormality of the forebrain|Abnormal shape of forebrain UMLS:C4020967 doelkens 2010-12-21T02:12:53Z human_phenotype owl:Class HP:0000252 biolink:NamedThing Microcephaly Head circumference below 2 standard deviations below the mean for age and gender. tmpte7i6ely_mondo_relaxed.owl Small skull|Small head circumference|Abnormally small cranium|small calvarium|Decreased size of skull|Small head|Abnormally small skull|Decreased circumference of cranium|Decreased size of cranium|Decreased size of head|Reduced head circumference|small cranium|Abnormally small head UMLS:C4551563|SNOMEDCT_US:271611007|Fyler:4310 Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition HP:0005485|HP:0005489|HP:0005497|HP:0001366 human_phenotype owl:Class HP:0007364 biolink:NamedThing Aplasia/Hypoplasia of the cerebrum tmpte7i6ely_mondo_relaxed.owl Absent/small cerebrum|Absent/underdeveloped cerebrum UMLS:C4024902 peter 2008-03-31T05:43:00Z human_phenotype owl:Class MONDO:0006033 biolink:NamedThing diffuse intrinsic pontine glioma A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis. tmpte7i6ely_mondo_relaxed.owl infiltrative brainstem glioma|DIPG UMLS:C2986658|Orphanet:497188|EFO:1000026|ONCOTREE:DIPG|NCIT:C94764|GARD:0013075 https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma owl:Class MONDO:0009184 biolink:NamedThing epidermolysis bullosa with diaphragmatic hernia tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa with diaphragmatic hernia MESH:C565588|OMIM:226735 owl:Class GO:0048285 biolink:NamedThing organelle fission The creation of two or more organelles by division of one organelle. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006996 biolink:NamedThing organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl organelle organisation|single organism organelle organization|organelle organization and biogenesis|single-organism organelle organization owl:Class UBERON:0013689 biolink:NamedThing appendix lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001744 biolink:NamedThing lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018226 biolink:NamedThing infantile epileptic-dyskinetic encephalopathy Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. tmpte7i6ely_mondo_relaxed.owl OMIM:308350|ICD10:G40.4|Orphanet:364063 owl:Class MONDO:0011703 biolink:NamedThing spongiform encephalopathy with neuropsychiatric features tmpte7i6ely_mondo_relaxed.owl spongiform encephalopathy with neuropsychiatric features MESH:C564678|UMLS:C1847650|OMIM:606688 owl:Class MONDO:0017234 biolink:NamedThing inherited prion disease An instance of prion disease that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl familial prion disease|hereditary prion disease Orphanet:280400|UMLS:CN202725|ICD10:A81.8 owl:Class MONDO:0019297 biolink:NamedThing lymphedema Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. tmpte7i6ely_mondo_relaxed.owl lymphoedema|lymphatic edema|lymphatic edema (morphologic abnormality) MESH:D008209|GARD:0012563|Orphanet:79383|MedDRA:10025282|SCTID:234097001|ICD9:457.1|NCIT:C3207|DOID:4977|UMLS:C0024236 owl:Class MONDO:0006224 biolink:NamedThing gastric hamartomatous polyp A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. tmpte7i6ely_mondo_relaxed.owl stomach hamartoma (disease)|hamartoma of the stomach|gastric hamartomatous polyp|hamartoma of stomach NCIT:C4373|SCTID:235685007|EFO:1000271|UMLS:C0341225 owl:Class MONDO:0006499 biolink:NamedThing hamartoma A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. tmpte7i6ely_mondo_relaxed.owl hamartoma|hamartoma (disease) hamartoma (disease) UMLS:C0018552|EFO:1000634|HP:0010566|NCIT:C3075|ICD9:759.6|MESH:D006222|SCTID:400006008 owl:Class GO:0050776 biolink:NamedThing regulation of immune response Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005961 biolink:NamedThing sinusitis An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. tmpte7i6ely_mondo_relaxed.owl DOID:0050127|ICD9:461|MESH:D012852|NCIT:C35024|ICD10:J01.9|ICD10:J01.90|ICD10:J01|SCTID:36971009|UMLS:C0037199|EFO:0007486|ICD9:461.9 owl:Class MONDO:0019919 biolink:NamedThing maternal uniparental disomy of chromosome 22 tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy of chromosome type 22|UPD(22)mat ICD10:Q99.8|Orphanet:96188 owl:Class MONDO:0020056 biolink:NamedThing uniparental disomy of maternal origin tmpte7i6ely_mondo_relaxed.owl 2022-04-01 ICD10:Q99.8|Orphanet:98153|SCTID:726401004 Reason: grouping class. Term to consider: none owl:Class GO:2001214 biolink:NamedThing positive regulation of vasculogenesis Any process that activates or increases the frequency, rate or extent of vasculogenesis. tmpte7i6ely_mondo_relaxed.owl positive regulation of vascular morphogenesis owl:Class GO:0045597 biolink:NamedThing positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of cell differentiation|activation of cell differentiation|up-regulation of cell differentiation|stimulation of cell differentiation|upregulation of cell differentiation owl:Class MONDO:0021322 biolink:NamedThing malignant tumor of meninges A cancer that involves the meningeal cluster. tmpte7i6ely_mondo_relaxed.owl meningeal cancer|malignant meningeal neoplasms|cancer of meninges|malignant neoplasm of meninges|cancer of meningeal cluster|malignant meninges neoplasm|meningeal cluster cancer|malignant meningeal tumor|malignant neoplasm of meningeal cluster|meningeal tumors, malignant|cancer of the meninges|malignant neoplasm of the meninges|malignant meningeal cluster neoplasm|malignant neoplasms of meninges|malignant meninges tumor|malignant tumor of the meninges SCTID:363497007|NCIT:C4628|UMLS:C0348375 owl:Class NCBITaxon:80840 biolink:NamedThing Burkholderiales tmpte7i6ely_mondo_relaxed.owl Burkholderia/Oxalobacter/Ralstonia group GC_ID:11|PMID:16403855 ncbi_taxonomy owl:Class NCBITaxon:28216 biolink:NamedThing Betaproteobacteria tmpte7i6ely_mondo_relaxed.owl Purple bacteria, beta subdivision|beta subdivision|Proteobacteria beta subdivision|b-proteobacteria|beta proteobacteria|beta subgroup GC_ID:11|PMID:16403855|PMID:28581923 ncbi_taxonomy owl:Class MONDO:0009603 biolink:NamedThing 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. tmpte7i6ely_mondo_relaxed.owl beta-hydroxyisobutyryl Coa deacylase deficiency|3-hydroxyisobutyryl-CoA hydrolase deficiency|methacrylic aciduria|Beta-hydroxyisobutyryl-CoA deacylase deficiency|methacrylic acid toxicity|HIBCH deficiency|neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency|valine metabolic defect|HIBCHD ICD10:E71.1|MESH:C562803|GARD:0013202|SCTID:722488009|Orphanet:88639|OMIM:250620 owl:Class UBERON:0010363 biolink:NamedThing endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009538 biolink:NamedThing mesenchyme of sublingual gland primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002634 biolink:NamedThing liposarcoma of bone A very rare malignant adipose tissue neoplasm that arises from the bone. tmpte7i6ely_mondo_relaxed.owl liposarcoma of bone|bone liposarcoma|bone tissue liposarcoma|liposarcoma of bone tissue|liposarcoma of the bone DOID:3381|NCIT:C7598|UMLS:C1332581 owl:Class MONDO:0021071 biolink:NamedThing laryngeal neoplasm A benign or malignant neoplasm involving the larynx. tmpte7i6ely_mondo_relaxed.owl laryngeal tumor|larynx neoplasm|tumor of the larynx|larynx tumor|tumor of larynx|larynx neoplasm (disease)|neoplasm of larynx|neoplasm of the larynx|laryngeal neoplasm MESH:D007822|NCIT:C3156|UMLS:C0023055|EFO:0003817|SCTID:126692004 owl:Class MONDO:0013630 biolink:NamedThing Meckel syndrome, type 9 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. tmpte7i6ely_mondo_relaxed.owl MKS9|Meckel syndrome, type 9|B9D1 Meckel syndrome|Meckel syndrome caused by mutation in B9D1 Orphanet:564|UMLS:C3280155|OMIM:614209 owl:Class MONDO:0044617 biolink:NamedThing X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:482606 owl:Class MONDO:0013202 biolink:NamedThing Waardenburg syndrome type 4C A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome type IVC|Waardenburg syndrome with Hirschsprung disease, type 4C|WS4C|Waardenburg syndrome, type 4C|Waardenburg syndrome with Hirschsprung disease type 4C|Waardenburg syndrome type 4C DOID:0110955|MESH:C567679|UMLS:C2750452|Orphanet:897|OMIM:613266 owl:Class MONDO:0019518 biolink:NamedThing Waardenburg-Shah syndrome Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome type 4|Waardenburg-Hirschsprung syndrome|Hirschsprung disease with pigmentary anomaly|Shah-Waardenburg syndrome|WS4|Waardenburg-Hirschsprung disease|Waardenburg syndrome type IV|Waardenburg-Shah syndrome OMIM:613265|ICD10:Q87.8|GARD:0005524|NCIT:C124842|OMIM:277580|Orphanet:897|OMIM:613266|UMLS:CN206330 https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 owl:Class UBERON:0001352 biolink:NamedThing external acoustic meatus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004119 biolink:NamedThing endoderm-derived structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011541 biolink:NamedThing dilated cardiomyopathy 1J An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. tmpte7i6ely_mondo_relaxed.owl neurosensory hearing loss with dilated cardiomyopathy|sensorineural hearing loss with dilated cardiomyopathy|dilated cardiomyopathy 1J|cardiomyopathy, dilated, 1J|familial dilated cardiomyopathy caused by mutation in EYA4|neurosensory deafness with dilated cardiomyopathy|EYA4 familial dilated cardiomyopathy|cardiomyopathy, dilated, type 1J|CMD1J|sensorineural deafness with dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|dilated cardiomyopathy type 1J UMLS:C1854368|MESH:C565337|OMIM:605362|DOID:0110440|Orphanet:217622 owl:Class MONDO:0002831 biolink:NamedThing non-keratinizing sinonasal squamous cell carcinoma A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. tmpte7i6ely_mondo_relaxed.owl Sinonasal transitional cell carcinoma|non-keratinizing sinonasal squamous cell carcinoma|cylindrical cell carcinoma|Sinonasal cylindrical cell carcinoma|sinonasal squamous cell carcinoma|Sinonasal Schneiderian carcinoma|Ringertz carcinoma|Schneiderian carcinoma UMLS:C0334270|ONCOTREE:SNSC|NCIT:C54287|ICDO:8121/3|DOID:4003 Editor note: TODO check ONCOTREE mapping owl:Class MONDO:0044787 biolink:NamedThing nasal cavity and paranasal sinus squamous cell carcinoma A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group. tmpte7i6ely_mondo_relaxed.owl nasal cavity and paranasal sinus squamous cell carcinoma|nasal cavity and paranasal sinus squamous cell cancer UMLS:C0280332|NCIT:C68611 Editor note: TODO add uberon term owl:Class HP:0010576 biolink:NamedThing Intracranial cystic lesion A cystic lesion originating within the brain. tmpte7i6ely_mondo_relaxed.owl Cerebral cystic malformation UMLS:C4021250 sandra1 2009-10-22T01:38:49Z human_phenotype owl:Class HP:0030724 biolink:NamedThing Central nervous system cyst A fluid-filled sac (cyst) located within the central nervous system. tmpte7i6ely_mondo_relaxed.owl CNS cyst|Cyst of the central nervous system MSH:D020863|UMLS:C0349606|SNOMEDCT_US:277333006 Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. human_phenotype owl:Class NCBITaxon:29908 biolink:NamedThing Sporothrix schenckii tmpte7i6ely_mondo_relaxed.owl Sporotrichum schenckii|Rhinocladium schenckii GC_ID:1 ncbi_taxonomy owl:Class UBERON:4000013 biolink:NamedThing mineralized skeletal tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004755 biolink:NamedThing skeletal tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13444 biolink:NamedThing SLC2A10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024662 biolink:NamedThing colorectal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl colorectal tubulovillous adenoma|tubulovillous adenoma of large bowel|large bowel tubulovillous adenoma|tubulovillous adenoma of the large bowel NCIT:C5675|UMLS:C1333118 owl:Class MONDO:0016571 biolink:NamedThing macrocephaly-short stature-paraplegia syndrome Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. tmpte7i6ely_mondo_relaxed.owl Volcke-Soekarman syndrome SCTID:722033000|Orphanet:2427|MESH:C537718 owl:Class MONDO:0004265 biolink:NamedThing acute endometritis An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge. tmpte7i6ely_mondo_relaxed.owl endometritis, acute DOID:7528|SCTID:67667007|NCIT:C27022|ICD9:615.0|UMLS:C0238103 owl:Class FOODON:03411059 biolink:NamedThing shellfish or crustacean Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish] tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00002581 biolink:NamedThing aquatic invertebrate An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020287 biolink:NamedThing pulmonary artery or pulmonary branch anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98719 owl:Class MONDO:0020285 biolink:NamedThing transposition of the great arteries and conotruncal cardiac anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98717 owl:Class MONDO:0024659 biolink:NamedThing colorectal Kaposi sarcoma A Kaposi sarcoma that arises from the colon or rectum. tmpte7i6ely_mondo_relaxed.owl Kaposi's sarcoma (disease) of large intestine|large intestinal Kaposi sarcoma|large intestine Kaposi's sarcoma (disease)|colorectal Kaposi sarcoma UMLS:C3272833|NCIT:C96510 owl:Class MONDO:0024634 biolink:NamedThing large intestine disorder A disease that involves the large intestine. tmpte7i6ely_mondo_relaxed.owl disorder of large intestine|disease or disorder of large intestine|large intestine disease or disorder|disease of large intestine UMLS:C0341321|SCTID:119523007 owl:Class UBERON:0001447 biolink:NamedThing tarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003656 biolink:NamedThing mesopodium bone tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016250 biolink:NamedThing N-sulfoglucosamine sulfohydrolase activity Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate. tmpte7i6ely_mondo_relaxed.owl 2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase)|heparin sulfamidase activity|sulphamidase activity|sulfoglucosamine sulfamidase activity|N-sulphoglucosamine sulphohydrolase activity|N-sulfo-D-glucosamine sulfohydrolase activity owl:Class HP:0032180 biolink:NamedThing Abnormal circulating metabolite concentration An abnormal level of an analyte measured in the blood. tmpte7i6ely_mondo_relaxed.owl 2019-01-12 13:45:59+00:00 peter human_phenotype owl:Class HP:0001939 biolink:NamedThing Abnormality of metabolism/homeostasis tmpte7i6ely_mondo_relaxed.owl Metabolism abnormality|Laboratory abnormality UMLS:C4021768 HP:0002146|HP:0004355|HP:0004367 human_phenotype owl:Class MONDO:0003537 biolink:NamedThing precursor T-lymphoblastic lymphoma/leukemia A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic leukemia/lymphoma UMLS:C1301359|ICDO:9837/3|DOID:5599|NCIT:C8694 owl:Class MONDO:0024615 biolink:NamedThing T-cell and NK-cell neoplasm tmpte7i6ely_mondo_relaxed.owl T-cell neoplasm|T-cell and NK-cell neoplasm UMLS:C1336554|NCIT:C27908 owl:Class MONDO:0007549 biolink:NamedThing generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. tmpte7i6ely_mondo_relaxed.owl dominant dystrophic epidermolysis bullosa, generalized|epidermolysis bullosa dystrophica, Cockayne-Touraine type|dominant dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, Pasini type (formerly)|DDEB-gen|autosomal dominant dystrophic epidermolysis bullosa|DDEB, Pasini and Cockayne-Touraine types|DDEB, generalized|DDEB|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, autosomal dominant|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)|epidermolysis bullosa dystrophica with subcorneal Cleavage|Albopapuloid dominant dystrophic epidermolysis bullosa|dystrophic epidermolysis bullosa, autosomal dominant|epidermolysis bullosa dystrophica, Pasini type Orphanet:231568|DOID:0080224|SCTID:75875004|GARD:0002139|ICD10:Q81.2|OMIM:131750|ICD9:757.39 owl:Class MONDO:0010414 biolink:NamedThing myopathy, reducing body, X-linked, early-onset, severe tmpte7i6ely_mondo_relaxed.owl myopathy, reducing body, X-linked, early-onset, severe|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|RBMX1A Orphanet:97239|OMIM:300717|UMLS:C2678027|MESH:C567469 owl:Class MONDO:0008246 biolink:NamedThing pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. tmpte7i6ely_mondo_relaxed.owl PPRCA|PPCRA|pigmented paravenous chorioretinal atrophy DOID:0111541|MESH:C566801|UMLS:C1868310|Orphanet:251295|ICD10:H35.5|SCTID:723450004|OMIM:172870 owl:Class CL:0002018 biolink:NamedThing CD71-negative, GlyA-positive orthochromatic erythroblast An erythroblast that is GlyA-positive and CD71-negative. tmpte7i6ely_mondo_relaxed.owl Markers associated with human cells. tmeehan 2010-04-26T11:04:21Z cell owl:Class CL:0000552 biolink:NamedThing orthochromatic erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. tmpte7i6ely_mondo_relaxed.owl acidophilic erythroblast|orthochromatic normoblast|late erythoblast|pyknotic eto enrythroblast|eosinophilic erythroblast FMA:84646 cell owl:Class MONDO:0054691 biolink:NamedThing immunodeficiency, common variable, 14 tmpte7i6ely_mondo_relaxed.owl immunodeficiency, COMMON variable, 14|CVID14|immunodeficiency, common variable, 14 OMIM:617765|UMLS:C4540380 owl:Class MONDO:0100040 biolink:NamedThing FOXG1 disorder A monogenic disease that has material basis in mutation in the FOXG1 gene. tmpte7i6ely_mondo_relaxed.owl FOXG1 inherited genetic disease|FOXG1 disorder|inherited genetic disease caused by mutation in FOXG1 2018-06-29 19:29:48+00:00 Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. owl:Class GO:0001979 biolink:NamedThing regulation of systemic arterial blood pressure by chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid and aortic bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpte7i6ely_mondo_relaxed.owl regulation of systemic arterial blood pressure by chemoreceptor signalling|chemoreceptor regulation of systemic arterial blood pressure|chemoreceptor control of blood pressure owl:Class GO:0001976 biolink:NamedThing nervous system process involved in regulation of systemic arterial blood pressure The regulation of blood pressure mediated by detection of stimuli and a neurological response. tmpte7i6ely_mondo_relaxed.owl fast control of arterial pressure|neurological process involved in regulation of systemic arterial blood pressure|neurological system process involved in regulation of systemic arterial blood pressure|blood pressure regulation by neurological process owl:Class HP:0010549 biolink:NamedThing Weakness due to upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. tmpte7i6ely_mondo_relaxed.owl Paralysis due to lesions of the principle motor tracts UMLS:C4021255 peter 2009-10-01T08:30:25Z human_phenotype owl:Class HP:0002493 biolink:NamedThing Upper motor neuron dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. tmpte7i6ely_mondo_relaxed.owl Corticospinal tract dysfunction|Pyramidal tract dysfunction UMLS:C1839042|UMLS:C1504405 A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). human_phenotype owl:Class MONDO:0012074 biolink:NamedThing mandibuloacral dysplasia with type B lipodystrophy tmpte7i6ely_mondo_relaxed.owl lipodystrophy, type B, associated with Mandibuloacral dysplasia|MANDIBULOACRAL dysplasia with type B lipodystrophy|mandibuloacral dysplasia with type B lipodystrophy|MADB Orphanet:2457|GARD:0009989|UMLS:C1837756|Orphanet:90154|OMIM:608612|ICD10:Q87.5|MESH:C535706 https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy owl:Class GO:2001234 biolink:NamedThing negative regulation of apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. tmpte7i6ely_mondo_relaxed.owl negative regulation of apoptotic signalling pathway owl:Class GO:0009968 biolink:NamedThing negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. tmpte7i6ely_mondo_relaxed.owl negative regulation of signalling pathway|inhibition of signal transduction|downregulation of signal transduction|negative regulation of signaling pathway|down-regulation of signal transduction|down regulation of signal transduction owl:Class HGNC:21086 biolink:NamedThing MIB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018174 biolink:NamedThing hereditary glaucoma Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. tmpte7i6ely_mondo_relaxed.owl hereditary glaucoma (disease)|glaucoma, hereditary GARD:0002486|Orphanet:359|MESH:C580055|UMLS:CN227278 https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary owl:Class ENVO:01001346 biolink:NamedThing erosion An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000010 biolink:NamedThing material transport process A process during which material is displaced from its original location and transported either to a new location or back to the original location. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014395 biolink:NamedThing proximal mesopodial bone tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000929 biolink:NamedThing Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. tmpte7i6ely_mondo_relaxed.owl Abnormality of the skull|Abnormality of the skull bones UMLS:C0235942 human_phenotype owl:Class HP:0000234 biolink:NamedThing Abnormality of the head An abnormality of the head. tmpte7i6ely_mondo_relaxed.owl Abnormality of the head|Head abnormality|Abnormal head UMLS:C4021812 human_phenotype owl:Class UBERON:0004861 biolink:NamedThing right lung alveolus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002299 biolink:NamedThing alveolus of lung tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011612 biolink:NamedThing glycine encephalopathy Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. tmpte7i6ely_mondo_relaxed.owl glycine encephalopathy|Glycine synthase deficiency|non-ketotic hyperglycinemia|GCE|hyperglycinemia, transient neonatal|GLYCINE encephalopathy|hyperglycinemia, Nonketotic|nonketotic hyperglycinemia|NKA|hyperglycinemia nonketotic NCIT:C84937|UMLS:C0751748|ICD10:E72.51|Orphanet:407|OMIM:605899|GARD:0007219|SCTID:237939006|ICD10:E72.5|DOID:9268|ICD9:270.7 https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy owl:Class MONDO:0045020 biolink:NamedThing glycine metabolism disease A disease that has its basis in the disruption of glycine metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of glycine metabolic process|disorder of glycine metabolism|glycine metabolic process disease|glycine metabolism disease UMLS:C0268558|SCTID:83076007 owl:Class GO:1903506 biolink:NamedThing regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018942 biolink:NamedThing macrophagic myofasciitis tmpte7i6ely_mondo_relaxed.owl Macrophagic myofasciitis, childhood|MMF Orphanet:592|MESH:C537829|UMLS:C2931639|SCTID:718175009|ICD10:M60.8|GARD:0000176 https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis owl:Class MONDO:0016105 biolink:NamedThing acquired skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired skeletal muscle disease UMLS:CN200878|Orphanet:206638 owl:Class UBERON:0001764 biolink:NamedThing maxillary sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001825 biolink:NamedThing paranasal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004638 biolink:NamedThing blood vessel endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9000016 biolink:NamedThing exposure to hydrogen chloride An exposure to hydrogen chloride. tmpte7i6ely_mondo_relaxed.owl exposure to hydrogen chloride owl:Class GO:1905294 biolink:NamedThing positive regulation of neural crest cell differentiation Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation. tmpte7i6ely_mondo_relaxed.owl up-regulation of neural crest cell differentiation|upregulation of neural crest cell differentiation|up regulation of neural crest cell differentiation|activation of neural crest cell differentiation owl:Class CL:0002320 biolink:NamedThing connective tissue cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. tmpte7i6ely_mondo_relaxed.owl FMA:63875|CALOHA:TS-2096 tmeehan 2010-09-15T03:01:54Z CL:1000406 cell owl:Class MONDO:0017320 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. tmpte7i6ely_mondo_relaxed.owl phosphoenolpyruvate carboxykinase (GTP) deficiency|PEPCK deficiency NCIT:C99015|ICD10:E74.4|OMIM:261650|ICD9:277.89|UMLS:C0268194|SCTID:5335002|Orphanet:2880|MESH:C536654|OMIM:261680 owl:Class MONDO:0042924 biolink:NamedThing Vagneur-Triolle-Ripert syndrome tmpte7i6ely_mondo_relaxed.owl Vagneur Triolle Ripert syndrome|hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age GARD:0000271 owl:Class UBERON:0002394 biolink:NamedThing bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001021 biolink:NamedThing negative regulation of response to DNA damage stimulus Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular response to DNA damage stimulus|negative regulation of response to genotoxic stress|negative regulation of DNA damage response|negative regulation of cellular DNA damage response owl:Class HGNC:30213 biolink:NamedThing ATP13A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012067 biolink:NamedThing asthma-related traits, susceptibility to, 2 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene. tmpte7i6ely_mondo_relaxed.owl asthma-related traits, susceptibility to, 2|inherited susceptibility to asthma caused by mutation in NPSR1|ASRT2|asthma-related traits, susceptibility to, type 2|NPSR1 inherited susceptibility to asthma OMIM:608584|UMLS:C1837811 owl:Class MONDO:0010940 biolink:NamedThing inherited susceptibility to asthma tmpte7i6ely_mondo_relaxed.owl asthma, diminished response to Antileukotriene treatment 1N|asthma, bronchial|asthma, susceptibility to|asthma-related traits, susceptibility to|asthma, protection against OMIM:600807 owl:Class CL:0000526 biolink:NamedThing afferent neuron A neuron which conveys sensory information centrally from the periphery. tmpte7i6ely_mondo_relaxed.owl input neuron FMA:87653 cell owl:Class UBERON:0003572 biolink:NamedThing chest connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006467 biolink:NamedThing thyroid gland squamous cell carcinoma A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive. tmpte7i6ely_mondo_relaxed.owl squamous cell thyroid gland carcinoma|thyroid gland squamous cell carcinoma EFO:1000594|UMLS:C1710177|NCIT:C46008 owl:Class OGMS:0000061 biolink:NamedThing pathological bodily process A bodily process that is clinically abnormal. tmpte7i6ely_mondo_relaxed.owl creation date: 2009-06-23T11:54:29Z http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf Albert Goldfain owl:Class MONDO:0001146 biolink:NamedThing fourth cranial nerve palsy A cranial nerve palsy that involves the trochlear nerve. tmpte7i6ely_mondo_relaxed.owl fourth nerve palsy|fourth or trochlear nerve palsy|trochlear nerve cranial nerve palsy|cranial nerve palsy of trochlear nerve SCTID:20610004|DOID:10869|ICD9:378.53 owl:Class MONDO:0007002 biolink:NamedThing trochlear nerve disorder A disease involving the trochlear nerve. tmpte7i6ely_mondo_relaxed.owl superior oblique muscle innervation disorder|disease of trochlear nerve|trochlear nerve disorder|disorder of trochlear nerve|trochlear nerve disease or disorder|disease or disorder of trochlear nerve|IVth cranial nerve disorder|IVth nerve disorder|trochlear nerve disease ICD10:H49.1|NCIT:C78395|MESH:D020432|DOID:13864|MedDRA:10074765|EFO:1001220|ICD9:378.53 owl:Class GO:0006468 biolink:NamedThing protein phosphorylation The process of introducing a phosphate group on to a protein. tmpte7i6ely_mondo_relaxed.owl protein amino acid phosphorylation owl:Class GO:0016310 biolink:NamedThing phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006763 biolink:NamedThing frozen shoulder Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpte7i6ely_mondo_relaxed.owl adhesions-capsulitis,shoulder|adhesive capsulitis of shoulder ICD10:M75.0|SCTID:399114005|UMLS:C0311223|EFO:1000941|DOID:14188|ICD9:726.0|MedDRA:10017391 owl:Class CL:0009042 biolink:NamedThing enteroendocrine cell of colon An enteroendocrine cell that is located in the colon. tmpte7i6ely_mondo_relaxed.owl colon enteroendocrine cell owl:Class CL:0000164 biolink:NamedThing enteroendocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. tmpte7i6ely_mondo_relaxed.owl FMA:62930|BTO:0003865 cell owl:Class MONDO:0015234 biolink:NamedThing arachnodactyly-abnormal ossification-intellectual disability syndrome Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. tmpte7i6ely_mondo_relaxed.owl arachnodactyly, abnormal ossification and intellectual disability|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and mental retardation MESH:C537024|GARD:0000381|Orphanet:1129|ICD10:Q87.8|UMLS:C2931398|SCTID:720501007 owl:Class MONDO:0020143 biolink:NamedThing cerebral lipidosis with dementia tmpte7i6ely_mondo_relaxed.owl cerebral lipidosis SCTID:16517004|DOID:10742|UMLS:C0007788|ICD9:330.1|Orphanet:98544 owl:Class HGNC:6776 biolink:NamedThing MAF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009003 biolink:NamedThing achromatopsia 2 Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. tmpte7i6ely_mondo_relaxed.owl CNGA3 achromatopsia|achromatopsia 2|colorblindness, total|achromatopsia caused by mutation in CNGA3|RMCH2|Rod monochromacy 2|achromatopsia type 2|rod monochromatism 2|rod monochromacy 2|Rod monochromatism 2|ACHM2 Orphanet:49382|GARD:0009649|DOID:0110007|UMLS:C1857618|OMIM:216900 https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2 owl:Class MONDO:0018888 biolink:NamedThing congenital cornea plana tmpte7i6ely_mondo_relaxed.owl OMIM:217300|ICD10:Q13.4|OMIM:121400|Orphanet:53691 owl:Class MONDO:0010920 biolink:NamedThing microtia Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. tmpte7i6ely_mondo_relaxed.owl anotia|M-A|microtia-anotia|microtias, congenital|congenital microtias|microtia, congenital SCTID:35045004|OMIM:600674|ICD10:Q17.2|GARD:0000431|MESH:C537772|MedDRA:10027555|MESH:D065817|Orphanet:93976|Orphanet:83463|ICD9:744.23|OMIM:128800 owl:Class MONDO:0004048 biolink:NamedThing immature gastric teratoma A malignant teratoma that arises from the stomach. tmpte7i6ely_mondo_relaxed.owl immature gastric teratoma|malignant teratoma of stomach|stomach malignant teratoma|malignant teratoma of the stomach|malignant gastric teratoma NCIT:C5256|UMLS:C1334151|DOID:6948 owl:Class MONDO:0003513 biolink:NamedThing gastric teratoma A mature or immature teratoma that arises from the stomach. tmpte7i6ely_mondo_relaxed.owl stomach teratoma|gastric teratoma|teratoma of the stomach|teratoma of stomach DOID:5561|UMLS:C1333790|NCIT:C5259 owl:Class HGNC:29932 biolink:NamedThing COASY tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015533 biolink:NamedThing benign cephalic histiocytosis tmpte7i6ely_mondo_relaxed.owl SCTID:255192005|UMLS:C0347403|ICD9:216.8|ICD10:D76.3|Orphanet:157997 owl:Class MONDO:0007060 biolink:NamedThing spermatogenic failure 6 Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene. tmpte7i6ely_mondo_relaxed.owl acrosome malformation of spermatozoa|spermatozoa, round-headed|azoospermia caused by mutation in SPATA16|round-headed spermatozoa|spermatogenic failure type 6|spermatogenic failure 6|globozoospermia|SPGF6|SPATA16 azoospermia SCTID:236818008|Orphanet:399808|Orphanet:171709|DOID:0070167|OMIM:102530 owl:Class MONDO:0015723 biolink:NamedThing trisomy 12p Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities. tmpte7i6ely_mondo_relaxed.owl Duplication 12p|12p trisomy|partial trisomy 12p|trisomy type 12p|chromosome 12p duplication|12p duplication GARD:0005305|MESH:C538299|ICD10:Q92.3|UMLS:C0795845|Orphanet:1699 owl:Class MONDO:0016933 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 12 tmpte7i6ely_mondo_relaxed.owl partial trisomy/tetrasomy of the short arm of chromosome type 12|partial duplication/triplication of the short arm of chromosome 12|partial duplication/triplication of chromosome 12p|partial trisomy/tetrasomy of chromosome 12p Orphanet:262658 owl:Class MONDO:0012533 biolink:NamedThing autism, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 7|AUTS7 OMIM:610676 owl:Class MONDO:0008642 biolink:NamedThing VACTERL/vater association VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. tmpte7i6ely_mondo_relaxed.owl vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome|VATER association|VATER syndrome|VACTERL association|VATER/VACTERL association GARD:0005443|SCTID:27742002|OMIM:276950|Orphanet:887|UMLS:C1735591|UMLS:C0220708|ICD10:Q87.2|MedDRA:10053665|MedDRA:10066022|OMIM:192350|UMLS:CN206312|DOID:14679|ICD9:759.89|NCIT:C99105 owl:Class MONDO:0006956 biolink:NamedThing Rickettsiosis A group of infectious diseases that is caused by Rickettsia. tmpte7i6ely_mondo_relaxed.owl infections, Rickettsia|Rickettsial infectious disorder|Rickettsia disease or disorder|Rickettsiae disease|Rickettsia infectious disease|Rickettsial disease|Rickettsial infectious disease|infection, Rickettsia|Rickettsiosis|Rickettsia infection|Rickettsia caused disease or disorder SCTID:37246009|MedDRA:10061495|Orphanet:102021|UMLS:C0035585|EFO:1001162|ICD9:083.9|NCIT:C34991|MESH:D012282 We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus owl:Class GO:1903507 biolink:NamedThing negative regulation of nucleic acid-templated transcription Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription. tmpte7i6ely_mondo_relaxed.owl down-regulation of nucleic acid-templated transcription|downregulation of nucleic acid-templated transcription|down regulation of nucleic acid-templated transcription|inhibition of nucleic acid-templated transcription owl:Class GO:0001216 biolink:NamedThing DNA-binding transcription activator activity A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets. tmpte7i6ely_mondo_relaxed.owl bacterial-type RNA polymerase transcriptional activator activity, metal ion regulated sequence-specific DNA binding|transcriptional activator activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription owl:Class GO:0140110 biolink:NamedThing transcription regulator activity A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032892 biolink:NamedThing positive regulation of organic acid transport Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl stimulation of organic acid transport|up-regulation of organic acid transport|activation of organic acid transport|upregulation of organic acid transport|up regulation of organic acid transport owl:Class MONDO:0009000 biolink:NamedThing familial reactive perforating collagenosis Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. tmpte7i6ely_mondo_relaxed.owl collagenosis, familial reactive perforating|RPC|inherited reactive perforating collagenosis GARD:0013331|OMIM:216700|Orphanet:79147|ICD10:L87.1|UMLS:C1857624|MESH:C565687 https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis owl:Class MONDO:0019292 biolink:NamedThing dermis elastic tissue disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227616|Orphanet:79378 owl:Class MONDO:0016708 biolink:NamedThing embryonal tumor of neuroepithelial tissue tmpte7i6ely_mondo_relaxed.owl UMLS:CN201955|Orphanet:251852 owl:Class MONDO:0005564 biolink:NamedThing embryonal neoplasm A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 tmpte7i6ely_mondo_relaxed.owl embryo neoplasm|embryonal cancer|EMBT|embryonal tumor|embryonal neoplasm UMLS:C0027654|DOID:688|EFO:0005784|NCIT:C3264|ONCOTREE:EMBT owl:Class MONDO:0017290 biolink:NamedThing familial intrahepatic cholestasis An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary intrahepatic cholestasis ICD9:576.8|ICD10:K83.1|SCTID:74162007|UMLS:CN227107|Orphanet:284385|UMLS:CN239338 owl:Class MONDO:0001542 biolink:NamedThing common peroneal nerve lesion A peripheral nerve lesion that involves the common fibular nerve. tmpte7i6ely_mondo_relaxed.owl peripheral nerve lesion of common fibular nerve|common fibular nerve peripheral nerve lesion ICD10:G57.30|DOID:12527|ICD10:G57.3|UMLS:C0270909|SCTID:399107008|ICD9:355.3 owl:Class MONDO:0001543 biolink:NamedThing lesion of sciatic nerve A peripheral nerve lesion that involves the sciatic nerve. tmpte7i6ely_mondo_relaxed.owl sciatic nerve peripheral nerve lesion|peripheral nerve lesion of sciatic nerve UMLS:C0154748|ICD10:G57.00|DOID:12528|SCTID:367137004|ICD9:355.0|ICD10:G57.0|SCTID:52585001|MESH:D020426 owl:Class FOODON:03460119 biolink:NamedThing microbial/enzymatic modification process A food modification process by microbial or enzymatic action which results in molecular changes in any food component. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0119 LanguaL curation note: If salt, sugar or other food additive is used to aid in the modification process, index it by the appropriate term under *INGREDIENT ADDED*. fermented, unspecified owl:Class FOODON:03460141 biolink:NamedThing food modification process tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0141 LanguaL curation note: Used when the food product underwent mechanical, chemical or enzymatic modification that has affected the texture, flavor or other characteristic of the product. owl:Class MONDO:0012775 biolink:NamedThing thrombocytopenia 4 Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene. tmpte7i6ely_mondo_relaxed.owl thrombocytopenia, autosomal dominant, 4|thrombocytopenia caused by mutation in CYCS|CYCS thrombocytopenia|THC4|thrombocytopenia 4|thrombocytopenia type 4 UMLS:C2677608|OMIM:612004|Orphanet:268322|Orphanet:168629|MESH:C567438 owl:Class MONDO:0015679 biolink:NamedThing autosomal thrombocytopenia with normal platelets tmpte7i6ely_mondo_relaxed.owl OMIM:273900|UMLS:CN200175|Orphanet:168629|ICD10:D69.4|OMIM:188000|OMIM:612004 owl:Class MONDO:0003090 biolink:NamedThing extrahepatic bile duct carcinoma A carcinoma that arises from epithelial cells of the extrahepatic bile duct. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct cancer|carcinoma of the extrahepatic bile duct|extrahepatic bile duct carcinoma|carcinoma of extrahepatic bile duct SCTID:372101000|DOID:4682|NCIT:C3860|UMLS:C0238019 owl:Class MONDO:0021321 biolink:NamedThing malignant tumor of extrahepatic bile duct A cancer that involves the extrahepatic bile duct. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the extrahepatic bile duct|cancer of extrahepatic bile duct|malignant extrahepatic bile duct tumor|malignant neoplasm of the extrahepatic bile duct|extrahepatic bile duct cancer|malignant extrahepatic bile duct neoplasm|malignant neoplasm of extrahepatic bile duct UMLS:C0153453|ICD9:156.1|NCIT:C7483|ICD9:156.8|SCTID:363416002 owl:Class MONDO:0032590 biolink:NamedThing ovarian dysgenesis 8 tmpte7i6ely_mondo_relaxed.owl ODG8|OVARIAN DYSGENESIS 8 DOID:0080500|OMIM:618187 owl:Class HP:0004368 biolink:NamedThing Increased circulating purine concentration Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. tmpte7i6ely_mondo_relaxed.owl Increased purine levels|Increased purine level UMLS:C4025332 peter 2008-03-18T06:31:00Z human_phenotype owl:Class HP:0004352 biolink:NamedThing Abnormal circulating purine concentration Any deviation from the normal concentration of a purine in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating purine level UMLS:C4025346 Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. peter 2008-03-17T01:04:00Z human_phenotype owl:Class GO:0023052 biolink:NamedThing signaling The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. tmpte7i6ely_mondo_relaxed.owl signalling|single organism signaling|biological signaling|signaling process|signalling process owl:Class MONDO:0023176 biolink:NamedThing formaldehyde poisoning tmpte7i6ely_mondo_relaxed.owl formaldehyde exposure|Formalin toxicity|formaldehyde toxicity|Formalin intoxication GARD:0002361|MESH:C537268 https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning owl:Class MONDO:0013745 biolink:NamedThing Joubert syndrome 14 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. tmpte7i6ely_mondo_relaxed.owl JBTS14|Joubert syndrome 14|TMEM237 Joubert syndrome|Joubert syndrome caused by mutation in TMEM237|Joubert syndrome type 14 Orphanet:220497|DOID:0110983|OMIM:614424|UMLS:C3280766|Orphanet:475|Orphanet:2318|Orphanet:220493 owl:Class MONDO:0016364 biolink:NamedThing Joubert syndrome with ocular defect Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy. tmpte7i6ely_mondo_relaxed.owl JBTS3|JS-O|Joubert syndrome 3|Joubert syndrome with retinopathy|Joubert syndrome with ocular anomalies OMIM:614424|OMIM:608629|ICD10:H35.5|UMLS:C4274118|OMIM:614464|OMIM:617121|Orphanet:220493|OMIM:614970|UMLS:C1837713|SCTID:716998009|GARD:0010168|ICD10:Q04.3|UMLS:CN201217 https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies owl:Class CL:0000513 biolink:NamedThing cardiac muscle myoblast A precursor cell destined to differentiate into cardiac muscle cell. tmpte7i6ely_mondo_relaxed.owl cardiomyocyte progenitor cell|cardiac muscle progenitor cell FMA:84797 CL:0000714 cell owl:Class MONDO:0025028 biolink:NamedThing vesicular stomatitis A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. tmpte7i6ely_mondo_relaxed.owl Stomatitides, vesicular|vesicular Stomatitides|stomatitis, vesicular SCTID:36921006|UMLS:C0266999|MESH:D054243 owl:Class MONDO:0014643 biolink:NamedThing congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl BASEL-Vanagaite-SMIRIN-YOSEF syndrome|BVSYS OMIM:616449|Orphanet:464738|UMLS:C4225323 owl:Class UBERON:0005667 biolink:NamedThing connecting stalk mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034186 biolink:NamedThing autosomal recessive extra-oral halitosis tmpte7i6ely_mondo_relaxed.owl Orphanet:562538 owl:Class MONDO:0001810 biolink:NamedThing hypoglossal nerve disorder A disease involving the hypoglossal nerve. tmpte7i6ely_mondo_relaxed.owl disorder of XII nerve|hypoglossal nerve disorder|twelfth nerve disorder|hypoglossal nerve disease|disorder of 12th nerve|disorder of hypoglossal nerve|disease of hypoglossal nerve|disorder of hypoglossal [12th] nerve|disease or disorder of hypoglossal nerve|disorder of the XII nerve|hypoglossal nerve disease or disorder ICD9:352.5|NCIT:C26954|ICD10:G52.3|DOID:13814|UMLS:C0152181|SCTID:24777009|MESH:D020437 owl:Class MONDO:0010179 biolink:NamedThing isolated right ventricular hypoplasia Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. tmpte7i6ely_mondo_relaxed.owl isolated hypoplasia of the right ventricle|right ventricular hypoplasia|Irvh|right ventricular hypoplasia, isolated|right ventricle hypoplasia|hypoplasia of the right ventricle SCTID:718135001|OMIM:277200|Orphanet:439|ICD10:Q22.6|MESH:C535682|GARD:0004721|UMLS:C1848587 owl:Class PATO:0001305 biolink:NamedThing increased temperature A temperature which is relatively high. tmpte7i6ely_mondo_relaxed.owl high temperature|hot owl:Class HGNC:9302 biolink:NamedThing PPP2R1A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1990611 biolink:NamedThing regulation of cytoplasmic translational initiation in response to stress Modulation of the frequency, rate or extent of cytoplasmic translational initiation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904688 biolink:NamedThing regulation of cytoplasmic translational initiation Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018072 biolink:NamedThing persistent truncus arteriosus A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. tmpte7i6ely_mondo_relaxed.owl truncus arteriosus|common aorticopulmonary trunk|TAC|common arterial trunk|persistent truncus arteriosus|common truncus arteriosus|persistent truncus arteriosus (disease) persistent truncus arteriosus (disease) OMIM:217095|Orphanet:3384|ICD10:Q20.0|GARD:0007375|NCIT:C98880 owl:Class MONDO:0018948 biolink:NamedThing multiminicore myopathy Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. tmpte7i6ely_mondo_relaxed.owl multiminicore disease|MmD|multicore myopathy|multicore disease OMIM:255320|ICD10:G71.2|Orphanet:598|OMIM:602771|GARD:0009130|UMLS:C0270962|OMIM:117000|SCTID:55133004 owl:Class MONDO:0015765 biolink:NamedThing congenital myopathy with cores tmpte7i6ely_mondo_relaxed.owl ICD10:G71.2|Orphanet:172976 owl:Class CL:0000099 biolink:NamedThing interneuron Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions. tmpte7i6ely_mondo_relaxed.owl FBbt:00005125|BTO:0003811|FMA:67313|WBbt:0005113 cell owl:Class MONDO:0002644 biolink:NamedThing idiopathic granulomatous myositis tmpte7i6ely_mondo_relaxed.owl granulomatous myositis|idiopathic granulomatous myositis Orphanet:206979|NCIT:C27575|UMLS:C1334150|DOID:3428 owl:Class MONDO:0045016 biolink:NamedThing cholesterol catabolic process disease A disease that has its basis in the disruption of cholesterol catabolic process. tmpte7i6ely_mondo_relaxed.owl cholesterol catabolism disease|disorder of cholesterol catabolism|disorder of cholesterol catabolic process SCTID:238032002|UMLS:C0342825 owl:Class UBERON:0005046 biolink:NamedThing mucosa of hard palate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005019 biolink:NamedThing mucosa of palate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023040 biolink:NamedThing ectodermal dysplasia Bartalos type tmpte7i6ely_mondo_relaxed.owl GARD:0002043 https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type owl:Class CL:1001581 biolink:NamedThing lateral ventricle glial cell Glial cell of lateral ventricle. tmpte7i6ely_mondo_relaxed.owl lateral ventricle glial cells CALOHA:TS-1258 owl:Class CL:0000125 biolink:NamedThing glial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. tmpte7i6ely_mondo_relaxed.owl neuroglial cell|neuroglia FMA:54536|CALOHA:TS-0415|BTO:0002606 cell owl:Class MONDO:0007886 biolink:NamedThing uterine corpus leiomyoma A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl uterine fibroid|uterine corpus leiomyoma|leiomyoma of uterine corpus|leiomyoma of the body of uterus|fibroid of the corpus uteri|body of uterus leiomyoma|leiomyoma of the corpus uteri|uterine leiomyoma|fibroid of the body of uterus|fibroid of the uterine corpus|leiomyoma of corpus uteri|leiomyoma of uterine body|fibroid of corpus uteri|leiomyoma of the uterine body|UL|plexiform leiomyoma|fibroid of uterine corpus|leiomyoma, uterine|uterine corpus leiomyomata|uterine body fibroid|body of uterus fibroid|corpus uteri fibroid|fibroid of uterine body|uterine corpus fibroid|uterus fibroma|leiomyoma of body of uterus|fibroid of the uterine body|leiomyoma of the uterine corpus|fibroid of body of uterus|corpus uteri leiomyoma|uterine body leiomyoma ICD10:D25.9|MESH:D047708|NCIT:C7052|NCIT:C3434|SCTID:146801000119103|ONCOTREE:ULM|EFO:0000731|ICD9:218|HP:0000131|DOID:13223|MESH:D007889|UMLS:C0042133|OMIM:150699|SCTID:95315005|NCIT:C3157|ICD10:D25|ICD9:218.9|UMLS:C2242776 owl:Class MONDO:0005878 biolink:NamedThing ocular onchocerciasis Onchocerciasis affecting the eye. tmpte7i6ely_mondo_relaxed.owl onchocerciasis of eyeball of camera-type eye|eyeball of camera-type eye onchocerciasis MESH:D015827|EFO:0007398|NCIT:C34862|SCTID:240842000|UMLS:C0029002 owl:Class MONDO:0017137 biolink:NamedThing onchocerciasis Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. tmpte7i6ely_mondo_relaxed.owl infection by Onchocerca volvulus|Robles' disease|onchocercosis|infection caused by Onchocerca volvulus|onchocerciasis|volvulosis|Onchocerca volvulus infection|River blindness MedDRA:10030314|MESH:D015827|SCTID:38539003|EFO:0007402|ICD10:B73|ICD9:125.3|UMLS:C0029001|GARD:0007252|MESH:D009855|DOID:11678|Orphanet:2737|MedDRA:10039202|NCIT:C34861|UMLS:C0029002 https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis owl:Class MONDO:0018601 biolink:NamedThing autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN237631|Orphanet:440354 owl:Class MONDO:0020183 biolink:NamedThing neurogenic palpebral tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:98593|UMLS:CN207043 owl:Class MONDO:0002235 biolink:NamedThing eyelid neoplasm A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. tmpte7i6ely_mondo_relaxed.owl eyelid neoplasm|eyelid neoplasm (disease)|palpebral tumor|tumor of the eyelid|eyelid tumor|tumor of eyelid|neoplasm of the eyelid|neoplasm of eyelid UMLS:C0015424|SCTID:278697001|EFO:1000934|NCIT:C3031|MESH:D005142|Orphanet:98580|DOID:2173 owl:Class MONDO:0015488 biolink:NamedThing predominantly large-vessel vasculitis tmpte7i6ely_mondo_relaxed.owl Orphanet:156140 owl:Class MONDO:0021297 biolink:NamedThing carcinoma in situ of nasopharynx A in situ carcinoma that involves the nasopharynx. tmpte7i6ely_mondo_relaxed.owl stage 0 nasopharyngeal carcinoma aJCC v8|nasopharyngeal carcinoma in situ|stage 0 nasopharynx carcinoma|carcinoma in situ of the nasopharynx|stage 0 nasopharyngeal carcinoma|carcinoma in situ of nasopharynx|stage 0 nasopharyngeal throat cancer|stage 0 nasopharyngeal carcinoma in situ|stage 0 nasopharyngeal carcinoma aJCC v7|nasopharynx carcinoma in situ|stage 0 nasopharyngeal cancer|stage 0 nasopharyngeal carcinoma aJCC v6|stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8|nasopharynx in situ carcinoma|stage 0 carcinoma of the nasopharynx|stage 0 carcinoma of nasopharynx UMLS:C0347096|UMLS:C4331312|NCIT:C9099|SCTID:92664001 owl:Class MONDO:0000372 biolink:NamedThing pharynx carcinoma in situ Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. tmpte7i6ely_mondo_relaxed.owl carcinoma in situ of the pharynx|pharyngeal cancer stage 0|stage 0 carcinoma of pharynx|stage 0 pharyngeal cancer|pharynx carcinoma in situ|carcinoma in situ of pharynx|pharyngeal carcinoma in situ|stage 0 carcinoma of the pharynx|stage 0 pharyngeal throat cancer|stage 0 pharynx carcinoma|stage 0 pharyngeal carcinoma|pharynx in situ carcinoma DOID:0050611|NCIT:C4942|UMLS:C0347098|SCTID:92681005 owl:Class MONDO:0031002 biolink:NamedThing Baralle-Macken syndrome tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with cataracts and variable microcephaly|BARMACS OMIM:619255 owl:Class UBERON:0004382 biolink:NamedThing epiphysis of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003499 biolink:NamedThing brain blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009577 biolink:NamedThing metencephalon sulcus limitans tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009356 biolink:NamedThing autosomal recessive humeroradial synostosis Autosomal recessive form of humeroradial synostosis (disease). tmpte7i6ely_mondo_relaxed.owl humeroradial/multiple synostosis syndrome|humeroradial synostosis|autosomal recessive humeroradial synostosis (disease)|humeroradial synostosis (disease), autosomal recessive OMIM:236400|Orphanet:3265 owl:Class UBERON:0004381 biolink:NamedThing skeleton of limb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008870 biolink:NamedThing pulmonary alveolar parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015454 biolink:NamedThing multiple carboxylase deficiency Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. tmpte7i6ely_mondo_relaxed.owl multiple carboxylase deficiency|MCD ICD10:D81.819|MESH:D009100|MedDRA:10028176|ICD10:E53.8|DOID:857|ICD10:D81.81|GARD:0003824|Orphanet:148|UMLS:C0026755 owl:Class MONDO:0020698 biolink:NamedThing inborn error of biotin metabolism tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016256 biolink:NamedThing Hennekam syndrome Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Hennekam lymphangiectasia lymphedema syndrome|Hennekam lymphangiectasia-lymphedema syndrome|lymphangiectasies and lymphedema Hennekam type|lymphedema-lymphangiectasia-intellectual disability syndrome|intestinal lymphagiectasia lymphedema intellectual deficit syndrome|lymphedem-lymphangiectasia-intellectual disability syndrome GARD:0003318|DOID:0060366|Orphanet:2136|OMIMPS:235510|UMLS:C0340834|SCTID:234146006|ICD10:Q87.8|OMIM:616006|ICD9:457.1|OMIM:235510 owl:Class GO:0070887 biolink:NamedThing cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051716 biolink:NamedThing cellular response to stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001892 biolink:NamedThing spinal cord lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. tmpte7i6ely_mondo_relaxed.owl lymphoma of the spinal cord|primary spinal cord lymphoma|spinal cord cancer|lymphoma of spinal cord|spinal cord lymphoma NCIT:C5157|UMLS:C1336044|DOID:14150 owl:Class MONDO:0002571 biolink:NamedThing primary central nervous system lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. tmpte7i6ely_mondo_relaxed.owl malignant lymphomas of CNS|malignant lymphomas of the CNS|primary central nervous system lymphoma|primary CNS lymphoma|PCNSL|microglioma|CNS lymphoma|primary brain lymphoma|central nervous system lymphoma|lymphoma of central nervous system|primary lymphoma, CNS SCTID:307649006|DOID:3234|MedDRA:10036685|GARD:0009318|EFO:1000157|Orphanet:46135|ICD10:C83.3|ICD9:200.5|ONCOTREE:PCNSL|NCIT:C9301|UMLS:C0742472 MONDO:0018732 owl:Class MONDO:0010662 biolink:NamedThing paraplegia-intellectual disability-hyperkeratosis syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. tmpte7i6ely_mondo_relaxed.owl mental retardation with spastic paraplegia and palmoplantar hyperkeratosis|Fitzsimmons-McLachlan-Gilbert syndrome|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis GARD:0002344|Orphanet:2824|ICD10:G82.1|UMLS:C2745996|OMIM:309560|MESH:C537058 owl:Class MONDO:0041154 biolink:NamedThing disorder of neck of urinary bladder tmpte7i6ely_mondo_relaxed.owl functional disorder of bladder neck and sphincter mechanism SCTID:236644005 owl:Class MONDO:0003068 biolink:NamedThing postauricular lymphadenitis Inflammation of the postauricular lymph nodes. tmpte7i6ely_mondo_relaxed.owl lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease) NCIT:C27332|DOID:4638|UMLS:C0919638 owl:Class MONDO:0004075 biolink:NamedThing infiltrating lipoma A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas. tmpte7i6ely_mondo_relaxed.owl intramuscular lipoma (morphologic abnormality)|intramuscular lipoma UMLS:C0334473|DOID:7014|NCIT:C7451 owl:Class UBERON:0005876 biolink:NamedThing undifferentiated genital tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001671 biolink:NamedThing increased distribution A distribution which is relatively high. tmpte7i6ely_mondo_relaxed.owl high distribution owl:Class PATO:0001566 biolink:NamedThing distributed A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. tmpte7i6ely_mondo_relaxed.owl scattered|diffuse owl:Class HGNC:18122 biolink:NamedThing SOX17 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099569 biolink:NamedThing presynaptic cytoskeleton The portion of the cytoskeleton contained within the presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005856 biolink:NamedThing cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003553 biolink:NamedThing ampulla of vater adenosquamous carcinoma A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpte7i6ely_mondo_relaxed.owl ampulla of Vater adenosquamous carcinoma|hepatopancreatic ampulla adenosquamous carcinoma NCIT:C27418|UMLS:C1332245|DOID:5628 owl:Class MONDO:0006074 biolink:NamedThing adenosquamous carcinoma A carcinoma composed of malignant glandular cells and malignant squamous cells. tmpte7i6ely_mondo_relaxed.owl mixed adenocarcinoma and squamous cell carcinoma|mixed adenocarcinoma and squamous carcinoma|mixed adenocarcinoma and epidermoid cell carcinoma|carcinoma, adenosquamous, malignant|adenosquamous carcinoma (morphologic abnormality)|mixed adenocarcinoma and epidermoid carcinoma|adenosquamous carcinoma|adenosquamous cell carcinoma NCIT:C3727|EFO:1000073|MESH:D018196|ICDO:8560/3|UMLS:C0206623|DOID:4830|SCTID:403902008 owl:Class CL:1001588 biolink:NamedThing colon glandular cell Glandular cell of colon epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. tmpte7i6ely_mondo_relaxed.owl colon glandular cells CALOHA:TS-1274 owl:Class CL:0011108 biolink:NamedThing colon epithelial cell Epithelial cell that is part of the colon epithelium. tmpte7i6ely_mondo_relaxed.owl colonic epithelial cell owl:Class CHEBI:37734 biolink:NamedThing phosphoric ester tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032643 biolink:NamedThing pontocerebellar hypoplasia, type 12 tmpte7i6ely_mondo_relaxed.owl PONTOCEREBELLAR HYPOPLASIA, TYPE 12|PCH12 OMIM:618266 owl:Class HP:0010606 biolink:NamedThing Hordeolum An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. tmpte7i6ely_mondo_relaxed.owl Stye of eyelid|Red bump on eyelid UMLS:C0019917|SNOMEDCT_US:397513003|MSH:D006726|SNOMEDCT_US:1489008|UMLS:C4280376 sandra1 2009-10-27T11:01:13Z human_phenotype owl:Class HP:0010732 biolink:NamedThing Nodular changes affecting the eyelids Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. tmpte7i6ely_mondo_relaxed.owl Eyelid nodules UMLS:C4023716 doelkens 2010-04-21T05:11:04Z human_phenotype owl:Class MONDO:0044726 biolink:NamedThing psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome tmpte7i6ely_mondo_relaxed.owl Cerebrorenal syndrome, Perez type|BILAPES|Birk-Landau-Perez syndrome UMLS:CN353477|Orphanet:505242|OMIM:617595 owl:Class MONDO:0044816 biolink:NamedThing familial idiopathic torsion dystonia An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary idiopathic torsion dystonia|genetic torsion dystonia|familial Idiopathic dystonia|idiopathic familial dystonia SCTID:230318005|NCIT:C35437 owl:Class NCBITaxon:302011 biolink:NamedThing Rickettsia conorii subsp. caspia tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:15766388 ncbi_taxonomy owl:Class NCBITaxon:781 biolink:NamedThing Rickettsia conorii tmpte7i6ely_mondo_relaxed.owl PMID:15879256|GC_ID:11|PMID:15766388 ncbi_taxonomy owl:Class HGNC:7534 biolink:NamedThing MXI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019339 biolink:NamedThing 47,XYY syndrome 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. tmpte7i6ely_mondo_relaxed.owl disomy Y|Y disomy|47,XYY|47, XYY syndrome|XYY syndrome|47,XYY syndrome|Double Y syndrome|Double Y|YY syndrome|XYY karyotype SCTID:50749006|MedDRA:10056894|GARD:0005674|MESH:C535317|Orphanet:8|ICD10:Q98.5|NCIT:C85237 https://github.com/monarch-initiative/mondo/issues/3155 owl:Class MONDO:0700028 biolink:NamedThing chromosome Y disorder Chromosomal disorder in which chromosome Y is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0011038 biolink:NamedThing cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss|CAPOS syndrome|CAPOS|cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss GARD:0001188|Orphanet:1171|SCTID:720634003|MESH:C535351|OMIM:601338 owl:Class MONDO:0010655 biolink:NamedThing X-linked intellectual disability with marfanoid habitus The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. tmpte7i6ely_mondo_relaxed.owl LUJAN-Fryns syndrome|Lujan syndrome|intellectual disability, X-linked, with Marfanoid habitus|Lujan-Fryns syndrome|mental retardation, X-linked, with Marfanoid habitus|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies OMIM:309520|GARD:0003307|OMIM:300676|ICD10:Q87.8|MESH:C537724|SCTID:422437002|Orphanet:776 owl:Class MONDO:0003951 biolink:NamedThing scrotal hemangioma A hemangioma arising from the skin of the scrotum. tmpte7i6ely_mondo_relaxed.owl hemangioma of the scrotum|scrotal hemangioma|angioma of scrotum|hemangioma of scrotum|scrotum hemangioma|scrotal angioma|angioma of the scrotum UMLS:C1335936|DOID:663|NCIT:C6387 owl:Class HGNC:3182 biolink:NamedThing PHC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010428 biolink:NamedThing chromosome Xp11.23-p11.22 duplication syndrome A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. tmpte7i6ely_mondo_relaxed.owl microduplication Xp11.22-p11.23 syndrome|chromosome Xp11.23-p11.22 duplication syndrome|trisomy Xp11.22-p11.23 OMIM:300801|MESH:C567585|DOID:0060461|GARD:0012766|Orphanet:217377|SCTID:721881008|ICD10:Q99.8 owl:Class PATO:0002468 biolink:NamedThing distensible A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0015008 biolink:NamedThing distensibility A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006138 biolink:NamedThing cervical large cell neuroendocrine carcinoma A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl cervical neuroendocrine tumor|cervical large cell neuroendocrine carcinoma NCIT:C40214|ONCOTREE:CENE|EFO:1000167|DOID:6659|UMLS:C1516417 owl:Class MONDO:0011831 biolink:NamedThing arrhythmogenic right ventricular dysplasia 8 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|arrhythmogenic right ventricular dysplasia, familial, type 8|arrhythmogenic right ventricular cardiomyopathy 8|ARVD8|arrhythmogenic right ventricular dysplasia 8|ARVC8|arrhythmogenic right ventricular dysplasia, familial, 8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia type 8|familial arrhythmogenic right ventricular dysplasia 8 MESH:C564400|ICD10:I42.8|UMLS:C1843896|OMIM:607450|Orphanet:217656|DOID:0110076 owl:Class OBO:CHR_9606-chr11q biolink:NamedThing 11q (Human) tmpte7i6ely_mondo_relaxed.owl 135086622 53400000 hg38 owl:Class MONDO:0004675 biolink:NamedThing mitochondrial encephalomyopathy A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) tmpte7i6ely_mondo_relaxed.owl MESH:D017237|DOID:890|SCTID:447292006|ICD9:277.87|UMLS:C0162666 owl:Class UBERON:0004126 biolink:NamedThing trabecular layer of ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004124 biolink:NamedThing myocardium trabecular layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001311 biolink:NamedThing inferior vesical artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008044 biolink:NamedThing myoclonic dystonia 11 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene. tmpte7i6ely_mondo_relaxed.owl SGCE myoclonus-dystonia syndrome|DYT11|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonic dystonia 11|myoclonic dystonia|alcohol-responsive dystonia|myoclonus, hereditary essential|myoclonus-dystonia syndrome caused by mutation in SGCE|dystonia 11, myoclonic|myoclonic dystonia type 11 UMLS:C1834570|OMIM:159900|DOID:0090034|ICD10:G24.1|OMIM:616398 owl:Class UBERON:0005702 biolink:NamedThing optic eminence mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1875 biolink:NamedThing CFL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017383 biolink:NamedThing familial clubfoot due to PITX1 point mutation tmpte7i6ely_mondo_relaxed.owl hereditary clubfoot due to PITX1 point mutation UMLS:CN203110|OMIM:119800|ICD10:Q66.8|Orphanet:293150 owl:Class MONDO:0006201 biolink:NamedThing ethmoid sinus adenoid cystic carcinoma An adenoid cystic carcinoma that affects the ethmoid sinus. tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus NCIT:C6238|EFO:1000246|UMLS:C1333473|DOID:2764 owl:Class MONDO:0017759 biolink:NamedThing disorder of catecholamine synthesis tmpte7i6ely_mondo_relaxed.owl Orphanet:309830|ICD9:270.8|SCTID:237921002|UMLS:C0342685 owl:Class HP:0011849 biolink:NamedThing Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpte7i6ely_mondo_relaxed.owl Abnormal bone maturation UMLS:C4023161|UMLS:C4280317|MP:0008271 All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. peter 2012-05-15T07:39:58Z human_phenotype owl:Class HP:0003330 biolink:NamedThing Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025630 human_phenotype owl:Class GO:0071417 biolink:NamedThing cellular response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpte7i6ely_mondo_relaxed.owl cellular response to organic nitrogen owl:Class GO:0010243 biolink:NamedThing response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpte7i6ely_mondo_relaxed.owl response to organic nitrogen owl:Class GO:0071072 biolink:NamedThing negative regulation of phospholipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpte7i6ely_mondo_relaxed.owl down regulation of phospholipid biosynthetic process|negative regulation of phospholipid synthesis|negative regulation of phospholipid biosynthesis|down-regulation of phospholipid biosynthetic process|inhibition of phospholipid biosynthetic process|downregulation of phospholipid biosynthetic process|negative regulation of phospholipid formation|negative regulation of phospholipid anabolism owl:Class GO:0042558 biolink:NamedThing pteridine-containing compound metabolic process The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid. tmpte7i6ely_mondo_relaxed.owl pterin metabolic process|pteridine-containing compound metabolism|pteridine and derivative metabolism|pteridine and derivative metabolic process|pterin metabolism owl:Class MONDO:0015283 biolink:NamedThing maternally-inherited cardiomyopathy and hearing loss Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. tmpte7i6ely_mondo_relaxed.owl maternally-inherited cardiomyopathy and deafness|tRNA-LYS-related cardiomyopathy-hearing loss syndrome UMLS:CN199218|Orphanet:1349|ICD10:I42.8 owl:Class MONDO:0020761 biolink:NamedThing Bowen disease of the skin A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. tmpte7i6ely_mondo_relaxed.owl Bowen disease|intraepidermal squamous cell carcinoma, Bowen type|Bowen Disease|Disease, Bowen's|Bowens Disease|Disease, Bowen|Bowen disease of the skin|Bowen's disease of the skin ICDO:8081/2|MESH:D001913|UMLS:C0006079|GARD:0005948|NCIT:C62571 owl:Class MONDO:0020760 biolink:NamedThing skin squamous cell carcinoma in situ Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma in situ of the skin|skin squamous cell cancer in situ|squamous cell carcinoma in situ of skin|intraepidermal squamous cell carcinoma|skin squamous cell carcinoma in situ NCIT:C2906 owl:Class MONDO:0012425 biolink:NamedThing corneal dystrophy, fuchs endothelial, 2 tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, late-onset|Fcd1 locus|FECD2|corneal dystrophy, Fuchs endothelial, 2 UMLS:C1857800|OMIM:610158|Orphanet:98974 owl:Class MONDO:0024518 biolink:NamedThing reactive thrombocytosis A thrombocytosis caused by an underlying condition, such as an infection. tmpte7i6ely_mondo_relaxed.owl secondary thrombocytosis ICD9:286.9|SCTID:234500001|UMLS:C0457506 owl:Class MONDO:0013633 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 4 Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene. tmpte7i6ely_mondo_relaxed.owl encephalopathy, acute, infection-induced caused by mutation in CPT2|encephalopathy, acute, infection-induced, susceptibility to, type 4|IIAE4|encephalopathy, acute, infection-induced, susceptibility to, 4|CPT2 encephalopathy, acute, infection-induced Orphanet:263524|OMIM:614212 owl:Class MONDO:0004502 biolink:NamedThing parapharyngeal meningioma tmpte7i6ely_mondo_relaxed.owl UMLS:C1335345|NCIT:C5303|DOID:8216 owl:Class MONDO:0003301 biolink:NamedThing dartoic leiomyoma A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora. tmpte7i6ely_mondo_relaxed.owl leiomyoma of dartos muscle|dartoic leiomyoma|dartoic myoma|dartos muscle leiomyoma DOID:5147|NCIT:C4483|SCTID:254770007|UMLS:C0346066|ICD9:215.9 owl:Class HP:0010765 biolink:NamedThing Palmar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023710 peter 2010-04-24T03:53:19Z human_phenotype owl:Class HP:0040211 biolink:NamedThing Abnormal skin morphology of the palm An abnormality of the skin of the palm, that is, the skin of the front of the hand. tmpte7i6ely_mondo_relaxed.owl UMLS:C4073159 HPO:skoehler human_phenotype owl:Class MONDO:0021245 biolink:NamedThing oral cavity neoplasm A neoplasm (disease) that involves the oral cavity. tmpte7i6ely_mondo_relaxed.owl tumor of oral cavity|neoplasm of oral cavity|oral cavity tumor|oral cavity neoplasm (disease)|mouth tumor|tumor of mouth|mouth neoplasm UMLS:C0026640|EFO:0003868|NCIT:C7606|SCTID:235075007 owl:Class MONDO:0006142 biolink:NamedThing cervical small cell carcinoma A small cell carcinoma arising from the cervix. tmpte7i6ely_mondo_relaxed.owl uterine cervix small cell carcinoma|SCCE|small cell carcinoma of cervix uteri|cervix uteri small cell carcinoma|small cell carcinoma of the cervix|cervical small cell carcinoma|cervix small cell carcinoma|Cervical small cell cancer|small cell carcinoma of the uterine cervix|small cell carcinoma of cervix|small cell carcinoma of the cervix uteri|small cell carcinoma of uterine cervix UMLS:C0279674|EFO:1000171|NCIT:C7982|ONCOTREE:SCCE|DOID:6740 owl:Class MONDO:0008015 biolink:NamedThing motion sickness A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. tmpte7i6ely_mondo_relaxed.owl travel sickness|motion sickness MESH:D009041|UMLS:C0026603|EFO:0006928|DOID:2951|NCIT:C34824|OMIM:158280|ICD10:T75.3|ICD9:994.6 owl:Class MONDO:0037940 biolink:NamedThing inherited auditory system disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl inherited auditory system disease|hereditary auditory system disease|auditory system hereditary disorder SCTID:362991006|UMLS:C1285174 owl:Class MONDO:0019426 biolink:NamedThing X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis UMLS:CN206182|Orphanet:85330|ICD10:Q87.8|GARD:0012489 owl:Class CHEBI:33482 biolink:NamedThing sulfur oxoanion tmpte7i6ely_mondo_relaxed.owl sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur owl:Class MONDO:0013389 biolink:NamedThing developmental and epileptic encephalopathy, 12 An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. tmpte7i6ely_mondo_relaxed.owl EIEE12|early infantile epileptic encephalopathy caused by mutation in PLCB1|early infantile epileptic encephalopathy 12|developmental and epileptic encephalopathy, 12|DEE12|epileptic encephalopathy, early infantile, 12|epileptic encephalopathy, early infantile, type 12|PLCB1 early infantile epileptic encephalopathy DOID:0080459|GARD:0013318|Orphanet:3451|OMIM:613722|UMLS:C3150988|Orphanet:293181 https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 owl:Class MONDO:0007565 biolink:NamedThing familial cylindromatosis tmpte7i6ely_mondo_relaxed.owl Ancell-Spiegler syndrome|Cylindromas, dermal eccrine|turban tumors|Ancell-Spiegler Cylindromas|cylindromatosis, familial|turban tumor syndrome|CYLD|turban tumor|'turban tumor' syndrome OMIM:132700|NCIT:C43352|MESH:C536611|Orphanet:79493|Orphanet:211|GARD:0009707 owl:Class MONDO:0011241 biolink:NamedThing pseudoacromegaly with severe insulin resistance tmpte7i6ely_mondo_relaxed.owl pseudoacromegaly with severe insulin resistance UMLS:C1865284|MESH:C566531|OMIM:602511 owl:Class MONDO:0024326 biolink:NamedThing pleural adenomatoid tumor A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma. tmpte7i6ely_mondo_relaxed.owl pleural benign mesothelioma|benign mesothelioma of the pleura|benign mesothelioma of pleura|pleural mesothelioma, benign|pleural adenomatoid tumor|pleura adenomatoid tumor NCIT:C4499 owl:Class NCBITaxon:11050 biolink:NamedThing Flaviviridae tmpte7i6ely_mondo_relaxed.owl Flavivirus (arbovirus group B) GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732545 biolink:NamedThing Amarillovirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008046 biolink:NamedThing autosomal dominant myoglobinuria Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. tmpte7i6ely_mondo_relaxed.owl myoglobinuria, autosomal dominant OMIM:160010|Orphanet:99846|ICD10:R82.1|MESH:C563546|SCTID:725903003|UMLS:C1834567 owl:Class HGNC:21734 biolink:NamedThing LHX4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:494 biolink:NamedThing ANK3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012565 biolink:NamedThing Fanconi anemia complementation group N Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. tmpte7i6ely_mondo_relaxed.owl FANCN|PALB2 Fanconi anemia|Fanconi Anemia, complementation group type N|Fanconi anemia, complementation group N|Fanconi anemia complementation group type N|Fanconi anemia complementation group N|Fanconi anemia caused by mutation in PALB2 MESH:C563657|UMLS:C1835817|OMIM:610832|DOID:0111094 owl:Class MONDO:0004569 biolink:NamedThing brachial plexus neuropathy from injury tmpte7i6ely_mondo_relaxed.owl brachial plexus lesions|brachial plexus lesion ICD9:353.0|SCTID:3548001|DOID:8443|UMLS:C0006091 owl:Class MONDO:0020787 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 1 tmpte7i6ely_mondo_relaxed.owl HOMGSMR1|HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 OMIM:616418 owl:Class MONDO:0014631 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability tmpte7i6ely_mondo_relaxed.owl hypomagnesemia, seizures, and mental retardation|hypomagnesemia, seizures, and intellectual disability|HOMGSMR OMIMPS:616418|UMLS:C4225333|Orphanet:34527 owl:Class HGNC:19957 biolink:NamedThing TECPR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019909 biolink:NamedThing ring chromosome 16 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. tmpte7i6ely_mondo_relaxed.owl R16|Ring 16|chromosome 16 ring|Ring chromosome type 16|Ring chromosome 16 syndrome SCTID:763406004|GARD:0010855|ICD10:Q93.2|Orphanet:96178 https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 owl:Class MONDO:0011237 biolink:NamedThing hyperlipidemia, combined, 1 Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene. tmpte7i6ely_mondo_relaxed.owl hyplip1|USF1 familial combined hyperlipidemia|hyperlipidemia, familial combined, 1|familial combined hyperlipidemia caused by mutation in USF1|hyperlipidemia, combined, 1|hyperlipidemia, combined, type 1 UMLS:C1865289|OMIM:602491|MESH:C566535 owl:Class MONDO:0001336 biolink:NamedThing familial hyperlipidemia An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hyperlipidaemia|familial hyperlipemia|hereditary hyperlipidemia (disease)|familial hyperlipoproteinemia|hyperlipemia DOID:1168|ICD10:E78.5|NCIT:C34707 Editor note: consider merging owl:Class MONDO:0002212 biolink:NamedThing pneumonic tularemia A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing. tmpte7i6ely_mondo_relaxed.owl pulmonary tularemia|bronchopneumonic tularemia|pneumonic tularaemia ICD10:A21.2|SCTID:45556008|UMLS:C0339946|ICD9:021.2|DOID:2122 owl:Class HGNC:15979 biolink:NamedThing TP63 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002305 biolink:NamedThing thrombophilia A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. tmpte7i6ely_mondo_relaxed.owl hypercoagulability|hypercoagulable|hypercoagulability state|excessive blood clotting UMLS:C0398623|DOID:2452|MESH:D019851|Orphanet:64738|SCTID:234467004|ICD10:D68.59|NCIT:C84479|ICD9:286.9 owl:Class GO:0031343 biolink:NamedThing positive regulation of cell killing Any process that activates or increases the frequency, rate or extent of cell killing. tmpte7i6ely_mondo_relaxed.owl up-regulation of cell killing|stimulation of cell killing|activation of cell killing|upregulation of cell killing|up regulation of cell killing owl:Class GO:0031341 biolink:NamedThing regulation of cell killing Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001443 biolink:NamedThing chest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009569 biolink:NamedThing subdivision of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002334 biolink:NamedThing hematopoietic and lymphoid system neoplasm Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 tmpte7i6ely_mondo_relaxed.owl hematopoietic tumors|hematologic malignancy|blood cancer|blood neoplasm (disease)|tumor of blood|tumor of hematopoietic system|blood tumor|hematopoietic system neoplasm|neoplasm of blood|malignant hematopoietic neoplasm (morphologic abnormality)|hematopoietic system tumor|hematopoietic and lymphoid system tumor|hematologic cancer|hematological tumors|hematopoietic neoplasm|hematopoietic neoplasm (morphologic abnormality)|hematopoietic cancer|hematologic neoplasm|neoplasm of hematopoietic system|hematopoietic and lymphoid system neoplasm UMLS:C1512393|MESH:D019337|UMLS:C0376545|UMLS:C0376544|SCTID:129154003|NCIT:C35813|DOID:2531 owl:Class GO:0009056 biolink:NamedThing catabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. tmpte7i6ely_mondo_relaxed.owl single-organism catabolic process|breakdown|catabolism|degradation|multicellular organismal catabolic process owl:Class MONDO:0014742 biolink:NamedThing Parkinson disease 22, autosomal dominant Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. tmpte7i6ely_mondo_relaxed.owl Parkinson disease 22, autosomal dominant; PARK22|CHCHD2 Parkinson disease|Parkinson disease caused by mutation in CHCHD2|Parkinson disease 22, autosomal dominant|PARK22 DOID:0080504|OMIM:616710|UMLS:C4225238 owl:Class MONDO:0020295 biolink:NamedThing congenital pulmonary veins anomaly Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. tmpte7i6ely_mondo_relaxed.owl pulmonary vein abnormality|congenital anomaly of pulmonary veins SCTID:111322000|Orphanet:98729|NCIT:C110942 owl:Class GO:0010894 biolink:NamedThing negative regulation of steroid biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014605 biolink:NamedThing microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 36|intellectual disability, autosomal dominant 36|MRD36|intellectual disability, autosomal dominant type 36|autosomal dominant intellectual disability 36|mental retardation, autosomal dominant type 36|autosomal dominant mental retardation 36|autosomal dominant non-syndromic intellectual disability 36 DOID:0070066|OMIM:616362|Orphanet:457284 owl:Class MONDO:0009129 biolink:NamedThing dwarfism, proportionate, with hip dislocation tmpte7i6ely_mondo_relaxed.owl dwarfism, proportionate, with hip dislocation|dwarfism, proportionate with hip dislocation UMLS:C1857196|OMIM:223550|MESH:C565614|GARD:0010606 https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation owl:Class UBERON:0014547 biolink:NamedThing sacral division of spinal cord central canal tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014538 biolink:NamedThing subdivision of spinal cord central canal tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11199 biolink:NamedThing SOX3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014899 biolink:NamedThing adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. tmpte7i6ely_mondo_relaxed.owl adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|PEOB4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|progressive external ophthalmoplegia, autosomal recessive 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4 SCTID:733599009|OMIM:617070|ICD10:G71.3|UMLS:C4310733|DOID:0111516|Orphanet:329314 owl:Class CL:0002363 biolink:NamedThing keratocyte A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. tmpte7i6ely_mondo_relaxed.owl corneal keratocyte|corneal fibroblast tmeehan 2010-09-22T01:57:40Z cell owl:Class MONDO:0008788 biolink:NamedThing IRIDA syndrome IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. tmpte7i6ely_mondo_relaxed.owl IRIDA|iron-handling disorder, hereditary|IRIDA syndrome|anemia, hypochromic microcytic, with defect in iron metabolism|pseudo-iron-deficiency Anemia|iron-refractory iron deficiency anemia OMIM:206200|ICD10:D50.8|SCTID:722005000|GARD:0010957|MESH:C562385|Orphanet:209981 owl:Class MONDO:0030538 biolink:NamedThing dystonia 34, myoclonic tmpte7i6ely_mondo_relaxed.owl DYT34 OMIM:619724 owl:Class HGNC:25896 biolink:NamedThing ORAI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014506 biolink:NamedThing hypomyelinating leukodystrophy 9 Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene. tmpte7i6ely_mondo_relaxed.owl RARS leukodystrophy|leukodystrophy, hypomyelinating, type 9|leukodystrophy caused by mutation in RARS|hypomyelinating leukodystrophy type 9|RARS-related autosomal recessive hypomyelinating leukodystrophy|HLD9|leukodystrophy, hypomyelinating, 9 Orphanet:438114|UMLS:C4015323|DOID:0060791|ICD10:E75.2|OMIM:616140 owl:Class MONDO:0017417 biolink:NamedThing renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. tmpte7i6ely_mondo_relaxed.owl Ivemark's syndrome|Ivemark II syndrome|Renohepaticopancreatic dysplasia SCTID:763891005|OMIM:615415|OMIMPS:208540|OMIM:208540|Orphanet:294415|UMLS:C2673883|DOID:0060259 owl:Class MONDO:0019741 biolink:NamedThing familial cystic renal disease An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary cystic kidney disease UMLS:CN206655|Orphanet:93587 owl:Class OBO:CHR_9606-chr20p biolink:NamedThing 20p (Human) tmpte7i6ely_mondo_relaxed.owl 28100000 0 hg38 owl:Class UBERON:0003915 biolink:NamedThing endothelial tube tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6383 biolink:NamedThing KNG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001474 biolink:NamedThing chronic salpingo-oophoritis Chronic form of salpingo-oophoritis. tmpte7i6ely_mondo_relaxed.owl chronic salpingo-oophoritis|salpingo-oophoritis, chronic|chronic salpingitis and oophoritis|chronic salpingitis/oophoritis SCTID:198142001|ICD9:614.1|ICD10:N70.13|UMLS:C0156328|DOID:12265|ICD10:N70.1 owl:Class MONDO:0001172 biolink:NamedThing salpingo-oophoritis tmpte7i6ely_mondo_relaxed.owl tubo-ovarian abscess (disorder)|salpingitis/oophoritis|tubo-ovarian abscess|Tubo-ovarian inflammatory disease|tubo ovarian abscess ICD9:614.2|ICD10:N70.93|ICD10:N70|UMLS:C0036133|DOID:10972|ICD10:N70.9|SCTID:46536000 owl:Class MONDO:0016700 biolink:NamedThing anaplastic ependymoma Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. tmpte7i6ely_mondo_relaxed.owl ependymoma, anaplastic, malignant|anaplastic ependymal neoplasm|anaplastic ependymal tumor|undifferentiated ependymal tumor|malignant ependymoma|undifferentiated ependymoma|high-grade ependymoma|WHO grade III ependymal neoplasm|anaplastic ependymoma|WHO grade III ependymal tumor|undifferentiated ependymal neoplasm UMLS:C0280788|GARD:0010634|ONCOTREE:APE|ICDO:9392/3|ICD10:C71.9|NCIT:C4049|MedDRA:10014968|Orphanet:251646 https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma owl:Class MONDO:0024954 biolink:NamedThing larva migrans, visceral A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. tmpte7i6ely_mondo_relaxed.owl Migran, visceral larva|visceral larva migrans syndrome|migrans, visceral larva|visceral larva migrans|visceral larva Migran|larva Migran, visceral MESH:D007816 owl:Class MONDO:0018500 biolink:NamedThing cutaneous larva migrans Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. tmpte7i6ely_mondo_relaxed.owl creeping eruption|dew itch|CLM|ground itch MESH:D007815|GARD:0001629|ICD10:B76.9|ICD9:126.9|SCTID:19362000|Orphanet:423717 https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans owl:Class UBERON:0006677 biolink:NamedThing surface of epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002974 biolink:NamedThing cervical cancer A primary or metastatic malignant neoplasm involving the cervix. tmpte7i6ely_mondo_relaxed.owl cervix uteri cancer|malignant uterine cervix tumor|malignant cervix neoplasm|cervix cancer|malignant neoplasm of the cervix uteri|malignant tumor of the cervix|malignant cervical neoplasm|malignant tumor of the uterine cervix|malignant tumor of the cervix uteri|malignant tumor of cervix|malignant neoplasm of the cervix|malignant cervix uteri neoplasm|malignant neoplasm of cervix uteri|malignant neoplasm of the uterine cervix|uterine cervical neoplasm|malignant uterine cervix neoplasm|cancer of uterine cervix|malignant tumor of cervix uteri|malignant neoplasm of uterine cervix|cervical neoplasm|malignant cervix tumor|malignant tumor of uterine cervix|malignant neoplasm of cervix|tumor of the cervix uteri|uterine cervix cancer|malignant cervical tumor|malignant cervix uteri tumor ICD10:C53|NCIT:C9311|SCTID:363354003|UMLS:C0302592|ICD9:180.8|ICD9:180.9|OMIM:603956|NCIT:C2940|DOID:4362|ICD10:C53.9|ICD9:180 owl:Class NCBITaxon:163343 biolink:NamedThing Trichostomatia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5988 biolink:NamedThing Litostomatea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006438 biolink:NamedThing synovial chondromatosis Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common. tmpte7i6ely_mondo_relaxed.owl Henderson-Jones syndrome|synovial osteochondromatosis|Reichel's syndrome EFO:1000557|UMLS:C0008476|MESH:D015838|NCIT:C34467|GARD:0006054 https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis owl:Class MONDO:0044334 biolink:NamedThing connective and soft tissue neoplasm A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. tmpte7i6ely_mondo_relaxed.owl soft tissue and bone tumor|neoplasm of soft tissue and skeleton|neoplasm of skeletal and soft tissue|skeletal and soft tissue neoplasm|tumor of soft tissue and skeleton|musculoskeletal and soft tissue tumor|tumor of soft tissue and bone|connective and soft tissue neoplasm|connective and soft tissue tumor|skeletal and soft tissue tumor|neoplasm of soft tissue and bone|musculoskeletal and soft tissue neoplasm|soft tissue and bone neoplasm|tumor of skeletal and soft tissue NCIT:C3810 Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone owl:Class HGNC:17321 biolink:NamedThing SP7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015438 biolink:NamedThing ring chromosome 22 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. tmpte7i6ely_mondo_relaxed.owl R22|Ring chromosome 22 syndrome|chromosome 22 ring|Ring 22|Ring chromosome type 22|r(22) syndrome ICD10:Q93.2|UMLS:CN036599|GARD:0001336|MESH:C536795|SCTID:13555004|Orphanet:1446 https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22 owl:Class MONDO:0700026 biolink:NamedThing chromosome 22 disorder Chromosomal disorder in which chromosome 22 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0011585 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 2 Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset). tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy Jerash type|DSMA2|MNDJ|hereditary motor neuropathy, Jerash type|spinal muscular atrophy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, type 2|neuronopathy, distal hereditary motor, Jerash type|motor neuropathy, distal, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2|distal hereditary motor neuropathy Jerash type|neuropathy, distal hereditary motor, Jerash type|dHMNJ|autosomal recessive distal spinal muscular atrophy type 2|HMNJ|distal hereditary motor neuropathy, Jerash type GARD:0010133|ICD10:G12.2|DOID:0111065|SCTID:763533003|Orphanet:139552|MESH:C535715|OMIM:605726 owl:Class HGNC:30839 biolink:NamedThing KRT25 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015794 biolink:NamedThing left lung lobar bronchus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003365 biolink:NamedThing epithelium of left lung tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001506 biolink:NamedThing prostatocystitis tmpte7i6ely_mondo_relaxed.owl DOID:12355|ICD9:601.3|SCTID:67685000|UMLS:C0156291|ICD10:N41.3 owl:Class MONDO:0021258 biolink:NamedThing choroid neoplasm A neoplasm (disease) that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl choroid tumor|neoplasm of choroid|choroidal neoplasm|tumor of the choroid|neoplasm of optic choroid|tumor of optic choroid|tumor of choroid|optic choroid neoplasm|optic choroid neoplasm (disease)|choroidal tumor|neoplasm of the choroid|optic choroid tumor NCIT:C2949 owl:Class MONDO:0011693 biolink:NamedThing glaucoma, normal tension, susceptibility to tmpte7i6ely_mondo_relaxed.owl glaucoma, normal tension, susceptibility to|glaucoma, normal pressure, susceptibility to|NTG OMIM:606657 owl:Class UBERON:0006279 biolink:NamedThing pleuroperitoneal canal tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:27902 biolink:NamedThing tetracycline A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. tmpte7i6ely_mondo_relaxed.owl Tsiklomitsin|(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide|Tetracyclin|Deschlorobiomycin|(4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide|tetracycline|TETRACYCLINE|Tetrazyklin|Achromycin|Tetracycline|Liquamycin|Abramycin|tetracyclinum|Anhydrotetracycline owl:Class HGNC:11730 biolink:NamedThing TERT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012222 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. tmpte7i6ely_mondo_relaxed.owl Naga deficiency, type 2|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Alpha-N-acetylgalactosaminidase deficiency adult onset|NAGA deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency, type 2|Kanzaki disease|Schindler disease type 2|Alpha-N-acetylgalactosaminidase deficiency, adult-onset|KANZAKI disease|Schindler disease, type 2 GARD:0009161|OMIM:609242|ICD10:E77.1|UMLS:C1836522|Orphanet:79280|Orphanet:3137 owl:Class MONDO:0017779 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. tmpte7i6ely_mondo_relaxed.owl alpha-N-acetylgalactosaminidase activity disease|disorder of alpha-N-acetylgalactosaminidase activity|NAGA deficiency|Schindler disease Orphanet:3137|SCTID:238048001|ICD9:277.89|ICD10:E77.1|OMIM:609242|OMIM:609241 owl:Class UBERON:0007172 biolink:NamedThing angle of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007106 biolink:NamedThing chorionic villus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006071 biolink:NamedThing glycerol metabolic process The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. tmpte7i6ely_mondo_relaxed.owl glycerol metabolism owl:Class GO:0019400 biolink:NamedThing alditol metabolic process The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group. tmpte7i6ely_mondo_relaxed.owl alditol metabolism owl:Class MONDO:0010196 biolink:NamedThing Werner syndrome Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. tmpte7i6ely_mondo_relaxed.owl adult progeria|Werner syndrome|WS|Werner's syndrome|WRN|adult premature ageing syndrome ICD9:259.8|MESH:D014898|NCIT:C3447|UMLS:C0043119|MedDRA:10049429|SCTID:51626007|OMIM:277700|DOID:5688|GARD:0007885|Orphanet:902|ICD10:E34.8 owl:Class MONDO:0016382 biolink:NamedThing hereditary poikiloderma tmpte7i6ely_mondo_relaxed.owl Orphanet:222628 owl:Class NCBITaxon:1329799 biolink:NamedThing Archelosauria tmpte7i6ely_mondo_relaxed.owl Archosauria-Testudines|Testudines + Archosauria group PMID:22839753|GC_ID:1|PMID:25450099 ncbi_taxonomy owl:Class NCBITaxon:32561 biolink:NamedThing Sauria tmpte7i6ely_mondo_relaxed.owl diapsids|Diapsida GC_ID:1 ncbi_taxonomy owl:Class GO:1901699 biolink:NamedThing cellular response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpte7i6ely_mondo_relaxed.owl cellular response to nitrogen molecular entity owl:Class MONDO:0000774 biolink:NamedThing autoimmune neuropathy An autoimmune form of peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl autoimmune peripheral neuropathy DOID:0060499|DOID:0040087 Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class UBERON:0001752 biolink:NamedThing enamel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012196 biolink:NamedThing autosomal dominant auditory neuropathy 1 Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene. tmpte7i6ely_mondo_relaxed.owl AUNA1|nonsyndromic dominant auditory neuropathy|DIAPH3 auditory neuropathy|auditory neuropathy caused by mutation in DIAPH3|auditory neuropathy, autosomal dominant, 1|autosomal dominant auditory neuropathy type 1|auditory neuropathy, nonsyndromic dominant|NSDAN|auditory neuropathy, autosomal dominant, type 1 MESH:C563790|UMLS:C1836743|ICD10:H90.3|OMIM:609129|DOID:0060690 owl:Class MONDO:0021944 biolink:NamedThing auditory neuropathy A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. tmpte7i6ely_mondo_relaxed.owl auditory neuropathy|progressive auditory neuropathy|auditory neuropathy spectrum disorder|auditory dys-synchrony|familial auditory neuropathy|ANSD MESH:C538268|SCTID:443805006|OMIM:609129|NCIT:C116364|UMLS:C2732267|OMIMPS:609129|UMLS:C1852271|GARD:0009274 Editor note: OMIMPS seems to refer to a more restricted concept https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy owl:Class HP:0011123 biolink:NamedThing Inflammatory abnormality of the skin The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. tmpte7i6ely_mondo_relaxed.owl Skin inflammation|Inflammatory skin disease|Inflammatory abnormality of the skin|Abnormal tendency to infections of the skin|Dermatitis MP:0004947|UMLS:C3875321|SNOMEDCT_US:703938007|UMLS:C0011603|MSH:D003872 peter 2011-06-12T10:06:04Z HP:0007423|HP:0002727 human_phenotype owl:Class HP:0011122 biolink:NamedThing Abnormality of skin physiology Any abnormality of the physiological function of the skin. tmpte7i6ely_mondo_relaxed.owl Abnormality of skin physiology UMLS:C4023527 peter 2011-06-12T10:05:14Z human_phenotype owl:Class CL:2000089 biolink:NamedThing dentate gyrus of hippocampal formation granule cell The principal cell type of the dentate gyrus. tmpte7i6ely_mondo_relaxed.owl The granule cell has a characteristic cone-shaped tree of spiny apical dendrites. TermGenie 2015-02-23T05:48:23Z cell owl:Class CL:0000120 biolink:NamedThing granule cell tmpte7i6ely_mondo_relaxed.owl BTO:0003393 cell owl:Class UBERON:0004823 biolink:NamedThing intrahepatic bile duct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004820 biolink:NamedThing bile duct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009012 biolink:NamedThing multiple pterygium-malignant hyperthermia syndrome Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl contractures, congenital, torticollis, and malignant hyperthermia|malignant hyperthermia - arthrogryposis - torticollis|froster-Iskenius-Waterson-Hall syndrome|froster-Iskenius-Waterson syndrome|malignant hyperthermia-arthrogryposis-torticollis syndrome|malignant hyperthermia arthrogryposis torticollis UMLS:C1857576|Orphanet:2215|GARD:0003361|MESH:C565679|OMIM:217150|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis owl:Class MONDO:0020944 biolink:NamedThing fungal infection of eye Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. tmpte7i6ely_mondo_relaxed.owl Infection, Fungal Ocular|Ocular mycosis|Mycotic Infections, Ocular|Mycotic Infection, Ocular|Infections, Ocular Mycotic|Fungal eye infection|fungal eye infection|Eye Infections, Fungal|Ocular Mycotic Infections|Fungal Ocular Infections|Ocular Mycotic Infection|Infection, Fungal Eye|ocular mycosis|Infections, Fungal Ocular|Ocular Infections, Fungal|Oculomycosis|Fungal Eye Infections|MYCOTIC INFECT OCULAR|Ocular Mycosis|Infection, Ocular Mycotic|Infections, Fungal Eye|Mycosis, Ocular|FUNGAL EYE INFECT|Fungal infection of eye|EYE INFECT FUNGAL|Fungal Eye Infection|fungal infection of eye|Fungal Ocular Infection|Ocular Mycoses|Ocular Infection, Fungal|OCULAR INFECT FUNGAL|Mycoses, Ocular|Oculomycoses|Eye Infection, Fungal SCTID:31194008|ICD9:117.9|MESH:D015821|UMLS:C0015405 owl:Class HGNC:3226 biolink:NamedThing EFNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4277 biolink:NamedThing GJA3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003362 biolink:NamedThing epithelium of endolymphatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014592 biolink:NamedThing microcephaly and chorioretinopathy 3 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene. tmpte7i6ely_mondo_relaxed.owl TUBGCP4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy, autosomal recessive, type 3|microcephaly and chorioretinopathy, autosomal recessive, 3|microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy type 3|MCCRP3 OMIM:616335|Orphanet:2518|UMLS:C4225362|DOID:0080107 owl:Class UBERON:0003294 biolink:NamedThing gland of foregut tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003720 biolink:NamedThing anterior cranial fossa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008789 biolink:NamedThing cranial fossa tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18475 biolink:NamedThing ZDHHC9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013257 biolink:NamedThing leprosy, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl LPRS6|leprosy, susceptibility to, 6 Orphanet:548|OMIM:613407 owl:Class MONDO:0016145 biolink:NamedThing qualitative or quantitative defects of dysferlin tmpte7i6ely_mondo_relaxed.owl dysferlinopathy GARD:0002031|MESH:C537995|GARD:0002003|Orphanet:207073|UMLS:C2931687 owl:Class MONDO:0023249 biolink:NamedThing polyarticular juvenile rheumatoid arthritis tmpte7i6ely_mondo_relaxed.owl Juvenile polyarthritis rheumatoid factor negative|Polyarticular juvenile rheumatoid arthritis|Juvenile polyarthritis rheumatoid factor positive SCTID:445479007|UMLS:C0311221|GARD:0010967 owl:Class MONDO:0007129 biolink:NamedThing tooth agenesis, selective, 1 Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. tmpte7i6ely_mondo_relaxed.owl hypodontia/oligodontia with orofacial cleft|tooth agenesis, selective, 1|second premolars and third molars, absence of|tooth agenesis, familial|tooth agenesis, selective, type 1|tooth agenesis caused by mutation in MSX1|hypodontia/oligodontia 1|tooth agenesis, selective, with orofacial cleft|STHAG1|MSX1 tooth agenesis OMIM:106600|Orphanet:99798 owl:Class MONDO:0005486 biolink:NamedThing tooth agenesis A rare developmental dental anomaly in humans characterized by the absence of six or more teeth. tmpte7i6ely_mondo_relaxed.owl hypodontia|selective tooth agenesis|familial tooth agenesis|oligodontia|tooth agenesis, selective OMIM:150400|OMIM:610926|DOID:0050591|OMIM:313500|OMIM:617073|OMIM:616724|MESH:D000848|OMIM:604625|UMLS:CN169366|Orphanet:99798|ICD9:520.0|SCTID:16958000|OMIM:106600|SCTID:64969001|OMIM:602639|ICD10:K00.0|Orphanet:2227|EFO:0005410|OMIMPS:106600 owl:Class HP:0012205 biolink:NamedThing Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:236818008|UMLS:C0403825|MSH:D000072660 peter 2013-03-12T12:21:08Z human_phenotype owl:Class HP:0012865 biolink:NamedThing Abnormal sperm head morphology A structural abnormality of the sperm head. tmpte7i6ely_mondo_relaxed.owl Sperm head anomaly UMLS:C4022702 hecht 2014-06-09T10:48:21Z human_phenotype owl:Class MONDO:0021368 biolink:NamedThing neoplasm of major salivary gland A neoplasm (disease) that involves the major salivary gland. tmpte7i6ely_mondo_relaxed.owl neoplasm of major salivary gland|major salivary gland neoplasm (disease)|neoplasm of the Major salivary gland|tumor of major salivary gland|tumor of the Major salivary gland|major salivary gland neoplasm|major salivary gland tumor|tumor of Major salivary gland UMLS:C0345599|NCIT:C4407|SCTID:126787005 owl:Class MONDO:0021357 biolink:NamedThing tumor of salivary gland A neoplasm (disease) that involves the saliva-secreting gland. tmpte7i6ely_mondo_relaxed.owl saliva-secreting gland neoplasm (disease)|tumor of saliva-secreting gland|saliva-secreting gland tumor|saliva-secreting gland neoplasm|neoplasm of saliva-secreting gland|neoplasm of salivary gland|tumor of the salivary gland|salivary gland neoplasm|neoplasm of the salivary gland|salivary gland tumor NCIT:C3361|SCTID:235132004|EFO:0003826 owl:Class MONDO:0008428 biolink:NamedThing septooptic dysplasia Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. tmpte7i6ely_mondo_relaxed.owl pituitary hormone deficiency, combined, 5|septooptic dysplasia|De Morsier syndrome|septo-optic dysplasia sequence|septo-optic dysplasia|Growth hormone deficiency with pituitary anomalies|hypopituitarism and septooptic 'dysplasia'|SOD|septo-optic dysplasia spectrum|septo-optic dysplasia with growth hormone deficiency ICD10:Q04.8|DOID:0060857|MESH:D025962|SCTID:7611002|UMLS:C0338503|NCIT:C85063|OMIM:182230|Orphanet:95494|GARD:0007627|MedDRA:10067159|Orphanet:3157|UMLS:C0162809 owl:Class MONDO:0016240 biolink:NamedThing hemimelia Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity. tmpte7i6ely_mondo_relaxed.owl longitudinal meromelia UMLS:C0018987|ICD10:Q71.8|NCIT:C34674|Orphanet:2130|MedDRA:10019464|ICD10:Q72.8|SCTID:33076008|ICD10:Q73.8 owl:Class MONDO:0016570 biolink:NamedThing primary pulmonary lymphoma Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). tmpte7i6ely_mondo_relaxed.owl SCTID:718200007|Orphanet:2420|MedDRA:10037418|ICD10:C85.7|UMLS:C0519063|UMLS:C4273669 Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma owl:Class MONDO:0017207 biolink:NamedThing primary organ-specific lymphoma tmpte7i6ely_mondo_relaxed.owl Orphanet:279911|UMLS:C1334465|NCIT:C7185 owl:Class MONDO:0019904 biolink:NamedThing ring chromosome 3 Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. tmpte7i6ely_mondo_relaxed.owl Ring 3|chromosome 3 ring|rose cluster 3|Ring chromosome type 3|R3|Ring chromosome 3 syndrome NCIT:C121982|SCTID:765486004|UMLS:C4050314|Orphanet:96172|GARD:0010839|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3 owl:Class UBERON:0008856 biolink:NamedThing stomach muscularis externa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020818 biolink:NamedThing secondary dentine Dentin formed by normal pulp after completion of root end formation. tmpte7i6ely_mondo_relaxed.owl sclerotic dentine|Secondary dentin|reparative dentine|Irregular dentine|SECOND DENTIN|tertiary dentine|Irregular dentin|Dentin, Secondary|irregular dentin|secondary dentin|Secondary dentine|Reparative dentine|DENTIN SECOND|Secondary Dentins|Sclerotic dentine|irregular dentine|Dentins, Secondary|secondary dentine|Secondary Dentin|Tertiary dentine UMLS:C0011434|MESH:D003809|SCTID:59818004 owl:Class MONDO:0003394 biolink:NamedThing dental pulp disorder A disease involving the dental pulp. tmpte7i6ely_mondo_relaxed.owl disease or disorder of dental pulp|disease of dental pulp|dental pulp disease or disorder|dental pulp disease|disorder of dental pulp|disorder of pulp of tooth|pulp disorder|dental pulp disorder ICD9:522.9|SCTID:57203004|DOID:5330|UMLS:C0011405|NCIT:C34530|MESH:D003788 owl:Class MONDO:0008433 biolink:NamedThing small cell lung carcinoma Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. tmpte7i6ely_mondo_relaxed.owl SCLC|lung small cell carcinoma|small cell lung cancer|small cell carcinoma of lung|small cell neuroendocrine carcinoma of lung|lung small cell neuroendocrine carcinoma|small cell carcinoma of the lung|small cell cancer of the lung|lung oat cell carcinoma|SCLC1|oat cell lung carcinoma|oat cell carcinoma of the lung|poorly differentiated endocrine neoplasm|oat cell carcinoma|oat cell carcinoma (morphologic abnormality)|oat cell carcinoma of lung|small cell neuroendocrine carcinoma of the lung ONCOTREE:SCLC|ICD10:C34.9|SCTID:254633006|Orphanet:70573|UMLS:CN244903|DOID:5411|OMIM:182280|DOID:5409|NCIT:C4917|KEGG:05222|UMLS:C0262584|MESH:D055752|SCTID:254632001|ICD9:162.9|EFO:0000702|DOID:0050685 owl:Class MONDO:0005138 biolink:NamedThing lung carcinoma A carcinoma that arises from epithelial cells of the lung tmpte7i6ely_mondo_relaxed.owl cancer of the lung|lung cancer|carcinoma of lung|lung cancer, NOS|lung carcinoma|cancer of lung|carcinoma of the lung OMIM:211980|NCIT:C4878|UMLS:C0684249|DOID:3905|MESH:D008175|ICD10:C34.90|EFO:0001071 owl:Class UBERON:8000006 biolink:NamedThing left side of back tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003922 biolink:NamedThing ovarian clear cell malignant adenofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian clear cell adenocarcinofibroma|ovarian clear cell malignant adenofibroma NCIT:C40079|UMLS:C2075522|DOID:6554|ICDO:8313/3 owl:Class MONDO:0000548 biolink:NamedThing ovarian clear cell cancer An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells. tmpte7i6ely_mondo_relaxed.owl ovarian clear cell carcinoma|clear-cell ovarian carcinoma|malignant ovarian clear cell tumor|malignant ovarian clear cell neoplasm DOID:0050934|UMLS:C1518230|NCIT:C40077 owl:Class NCBITaxon:951 biolink:NamedThing Neorickettsia sennetsu tmpte7i6ely_mondo_relaxed.owl Ehrlichia sennetsu|Rickettsia sennetsu GC_ID:11|PMID:11760958|PMID:1736961|PMID:11594628 ncbi_taxonomy owl:Class NCBITaxon:33993 biolink:NamedThing Neorickettsia tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11760958|PMID:7537065 NCBITaxon:106180 ncbi_taxonomy owl:Class MONDO:0005040 biolink:NamedThing germ cell tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl germ cell tumor|tumor of the germ cell|neoplasm of germ cell|tumor of germ cell|germ cells tumors|germ cell tumour|germ cell neoplasm|germ cell cancer|neoplasm of the germ cell DOID:3304|MESH:D009373|EFO:0000514|GARD:0013022|NCIT:C3708|UMLS:C0205851|DOID:688|DOID:2994|MESH:D018237|SCTID:402878003 owl:Class UBERON:0008408 biolink:NamedThing distal tubular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902573 biolink:NamedThing positive regulation of serine-type peptidase activity Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity. tmpte7i6ely_mondo_relaxed.owl upregulation of serine protease activity|up regulation of serine protease activity|up-regulation of serine-type peptidase activity|activation of serine-type peptidase activity|positive regulation of serine protease activity|upregulation of serine-type peptidase activity|up regulation of serine-type peptidase activity|activation of serine protease activity|up-regulation of serine protease activity owl:Class GO:0010952 biolink:NamedThing positive regulation of peptidase activity Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002554 biolink:NamedThing sympathetic neurilemmoma A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus. tmpte7i6ely_mondo_relaxed.owl sympathetic schwannoma DOID:3201|NCIT:C5421|UMLS:C1336543 owl:Class MONDO:0002366 biolink:NamedThing autonomic nervous system neoplasm Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system. tmpte7i6ely_mondo_relaxed.owl autonomic nervous system tumor|autonomic nervous system neoplasms|autonomic nervous system neoplasm (disease)|neoplasm of autonomic nervous system|tumor of autonomic nervous system|tumor of the autonomic nervous system|neoplasm of the autonomic nervous system|autonomic nervous system neoplasm UMLS:C1332356|NCIT:C5112|DOID:2621 owl:Class MONDO:0008885 biolink:NamedThing Elsahy-Waters syndrome An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. tmpte7i6ely_mondo_relaxed.owl brachioskeletogenital syndrome|ESWS|Elsahy-Waters syndrome|hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|BSG syndrome|branchio-skeleto-genital syndrome|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|ELSAHY-Waters syndrome|hypospadias-hypertelorism-coloboma and deafness syndrome Orphanet:1299|MESH:C537084|GARD:0000955|MESH:C566373|ICD10:Q87.8|OMIM:603463|DOID:0080631|Orphanet:157788|SCTID:719097002|OMIM:211380|UMLS:C1863870 owl:Class MONDO:0006585 biolink:NamedThing neurodermatitis Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. tmpte7i6ely_mondo_relaxed.owl lichen simplex Chronicus DOID:3309|EFO:1000740|SCTID:267854005|UMLS:C0027822|NCIT:C111963|UMLS:C0149922|MESH:D009450 owl:Class PO:0009002 biolink:NamedThing plant cell A cell which is a plant structure (PO:0009011). tmpte7i6ely_mondo_relaxed.owl 植物細胞 (Japanese, exact)|célula vegetal (Spanish, exact)|cell (broad) GO:0005623|PO_GIT:56 Applies to cells that are living or dead at maturity (e.g., fiber cell or tracheid) and includes any external encapsulating structures (if present) such as the plasma membrane and the plant-type cell wall. Definition of cell GO:0005623: "The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope". GO:0009505. Definition of plant-type cell wall (GO:0009505): A more or less rigid structure lying outside the cell membrane of a cell and composed of cellulose and pectin and other organic and inorganic substances, synonym; exact: cellulose and pectin-containing cell wall. plant_anatomy owl:Class PO:0009011 biolink:NamedThing plant structure A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant. tmpte7i6ely_mondo_relaxed.owl 植物 構造 (Japanese, exact)|estructura vegetal (Spanish, exact) PO_GIT:57 'Part' includes both proper parts and the whole plant. CARO:0000003 'connected anatomical structure' is defined as: Material anatomical entity that is a single connected structure with inherent 3D shape, generated by coordinated expression of the organism's own genome. plant_anatomy owl:Class NCBITaxon:44537 biolink:NamedThing Pyretophorus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:44534 biolink:NamedThing Cellia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0011354 biolink:NamedThing Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. tmpte7i6ely_mondo_relaxed.owl Generalized abnormality of skin|Generalised abnormality of skin UMLS:C4021157 peter 2012-03-01T01:55:07Z human_phenotype owl:Class HP:0011121 biolink:NamedThing Abnormality of skin morphology Any morphological abnormality of the skin. tmpte7i6ely_mondo_relaxed.owl Abnormal skin structure|Abnormal skin morphology Fyler:4133|UMLS:C4023528 peter 2011-06-12T10:03:23Z human_phenotype owl:Class MONDO:0037937 biolink:NamedThing pyrimidine metabolism disease A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of pyrimidine nucleobase metabolic process|disorder of pyrimidine metabolism|pyrimidine nucleobase metabolic process disease UMLS:C0268127|SCTID:85444005 owl:Class MONDO:0017682 biolink:NamedThing intellectual disability-polydactyly-uncombable hair syndrome Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. tmpte7i6ely_mondo_relaxed.owl intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|Kozlowski-Krajewska syndrome ICD10:Q87.2|MESH:C537615|UMLS:C2931547|GARD:0003141|Orphanet:3082 owl:Class MONDO:0027353 biolink:NamedThing autosomal recessive dyskeratosis congenita 4 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. tmpte7i6ely_mondo_relaxed.owl DKCB4 DOID:0070021|OMIM:613989 OMIM combines with with DKCA2 owl:Class UBERON:0005456 biolink:NamedThing jugular foramen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013685 biolink:NamedThing foramen of skull tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008652 biolink:NamedThing congenital vertical talus Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. tmpte7i6ely_mondo_relaxed.owl vertical talus, congenital|rocker-bottom foot|rocker bottom foot|congenital convex foot|pes valgus, congenital convex|congenital convex pes valgus|CVT|congenital rocker-bottom foot|vertical talus|rocker-bottom foot deformity MESH:C536345|OMIM:192950|ICD10:Q66.8|DOID:0111568|ICD9:755.67|SCTID:205082007|MedDRA:10066242|Orphanet:178382|GARD:0005488 https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus owl:Class GO:0048873 biolink:NamedThing homeostasis of number of cells within a tissue Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048872 biolink:NamedThing homeostasis of number of cells Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. tmpte7i6ely_mondo_relaxed.owl cell population homeostasis|homeostasis of cell number owl:Class GO:0002784 biolink:NamedThing regulation of antimicrobial peptide production Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045930 biolink:NamedThing negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. tmpte7i6ely_mondo_relaxed.owl down regulation of progression through mitotic cell cycle|downregulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|negative regulation of progression through mitotic cell cycle|down-regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle owl:Class GO:0007346 biolink:NamedThing regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle. tmpte7i6ely_mondo_relaxed.owl mitotic cell cycle modulation|mitotic cell cycle regulator|modulation of mitotic cell cycle progression|mitotic cell cycle regulation|regulation of mitotic cell cycle progression|regulation of progression through mitotic cell cycle owl:Class GO:0014058 biolink:NamedThing negative regulation of acetylcholine secretion, neurotransmission Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine. tmpte7i6ely_mondo_relaxed.owl downregulation of acetylcholine secretion|down-regulation of acetylcholine secretion|down regulation of acetylcholine secretion|inhibition of acetylcholine secretion owl:Class GO:0046929 biolink:NamedThing negative regulation of neurotransmitter secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter. tmpte7i6ely_mondo_relaxed.owl down regulation of neurotransmitter secretion|downregulation of neurotransmitter secretion|down-regulation of neurotransmitter secretion|inhibition of neurotransmitter secretion|conotoxin activity owl:Class MONDO:0000494 biolink:NamedThing renal fibrosis A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. tmpte7i6ely_mondo_relaxed.owl DOID:0050855|EFO:1001517|SCTID:197660000|UMLS:C0151650 owl:Class MONDO:0000490 biolink:NamedThing glomerulosclerosis A hardening of the kidney glomerulus caused by scarring of the blood vessels. tmpte7i6ely_mondo_relaxed.owl glomerular sclerosis DOID:0050851|SCTID:197661001|UMLS:C0178664|NCIT:C120888 owl:Class MONDO:0013763 biolink:NamedThing Joubert syndrome 15 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome caused by mutation in CEP41|JBTS15|Joubert syndrome 9/15, digenic|Joubert syndrome type 15|Joubert syndrome 12/15, digenic|Joubert syndrome 15|CEP41 Joubert syndrome UMLS:C3280897|DOID:0110984|Orphanet:475|OMIM:614464|Orphanet:220493 owl:Class MONDO:0044714 biolink:NamedThing mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome tmpte7i6ely_mondo_relaxed.owl myopathy, mitochondrial, and ataxia|MMYAT|mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome OMIM:617675|Orphanet:502423|UMLS:CN484737 owl:Class MONDO:0009637 biolink:NamedThing inborn mitochondrial myopathy Myopathy caused by mitochondrial abnormalities. tmpte7i6ely_mondo_relaxed.owl mitochondrial myopathy|mitochondrial cytopathy ICD10:G71.3|NCIT:C101328|UMLS:C0162670|GARD:0011956|OMIM:251900|DOID:699|MESH:D017240|MedDRA:10027710|Orphanet:206966 owl:Class UBERON:0002366 biolink:NamedThing bulbo-urethral gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010147 biolink:NamedThing male accessory sex gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014333 biolink:NamedThing polymicrogyria, bilateral perisylvian, autosomal recessive tmpte7i6ely_mondo_relaxed.owl BPPR|Pmgr|polymicrogyria, bilateral perisylvian, autosomal recessive Orphanet:98889|OMIM:615752|Orphanet:268940|UMLS:C3810405 owl:Class MONDO:0017244 biolink:NamedThing pseudoxanthomatous diffuse cutaneous mastocytosis Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. tmpte7i6ely_mondo_relaxed.owl infiltrative small vesicular DCM|Pseudoxanthomatous DCM|infiltrative small vesicular diffuse cutaneous mastocytosis ICD10:Q82.2|Orphanet:280794 owl:Class MONDO:0019315 biolink:NamedThing diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM). tmpte7i6ely_mondo_relaxed.owl DCM|diffuse cutaneous mastocytosis|diffuse cutaneous maculopapulous mastocytosis ICDO:9740/1|NCIT:C3218|GARD:0012686|DOID:3665|MedDRA:10012812|Orphanet:79456|ICD10:Q82.2|MESH:D034701|UMLS:C0024901 owl:Class CL:0000617 biolink:NamedThing GABAergic neuron A neuron that uses GABA as a vesicular neurotransmitter tmpte7i6ely_mondo_relaxed.owl GABA-ergic neuron FMA:84788|WBbt:0005190 cell owl:Class UBERON:0005712 biolink:NamedThing midgut duodenum mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006505 biolink:NamedThing GPI anchor metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. tmpte7i6ely_mondo_relaxed.owl GPI/GSI anchor metabolic process|GPI anchor metabolism|glycosylphosphatidylinositol metabolism|GPI/GSI anchor metabolism|glycosylphosphatidylinositol metabolic process owl:Class HGNC:20207 biolink:NamedThing B3GLCT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019838 biolink:NamedThing adenohypophysitis An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period. tmpte7i6ely_mondo_relaxed.owl adenohypophysis inflammation|inflammation of adenohypophysis|lymphocytic adenohypophysitis|anterior pituitary hypophysitis ICD10:E23.6|Orphanet:95512 owl:Class MONDO:0019835 biolink:NamedThing primary hypophysitis Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). tmpte7i6ely_mondo_relaxed.owl autoimmune hypophysitis|lymphocytic hypophysitis Orphanet:95506|ICD9:253.8|SCTID:237706000|NCIT:C132055|ICD10:E23.6|ICD9:279.49|MESH:D000069281 owl:Class MONDO:0007078 biolink:NamedThing pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). tmpte7i6ely_mondo_relaxed.owl Albright's hereditary osteodystrophy|Albright hereditary osteodystrophy|Albright hereditary osteodystrophy with multiple hormone resistance|pseudohypoparathyroidism, type 1A|pseudohypoparathyroidism, type IA|AHO-PHP syndrome Ia|pseudohypoparathyroidism type 1A|Albright hereditary osteodystrophy-PHP syndrome Ia|PHP1A|PHP 1A|AHO ICD10:E20.1|NCIT:C129721|SCTID:58833000|Orphanet:79443|UMLS:C3494506|UMLS:C0033806|MESH:C537045|GARD:0005770|ICD9:275.49|UMLS:C2931404|DOID:0080053|OMIM:103580|GARD:0007486 owl:Class MONDO:0014033 biolink:NamedThing dystonia 25 Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia. tmpte7i6ely_mondo_relaxed.owl dystonia type 25|DYT25|dystonic disorder caused by mutation in GNAL|dystonia 25|GNAL dystonic disorder|autosomal dominant focal dystonia, DYT25 type Orphanet:329466|UMLS:C3554447|ICD10:G24.1|DOID:0090055|OMIM:615073 owl:Class MONDO:0015797 biolink:NamedThing UV-sensitive syndrome UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. tmpte7i6ely_mondo_relaxed.owl UV sensitive syndrome|UVSS GARD:0010947|OMIM:614640|ICD9:702.8|DOID:0060240|OMIMPS:600630|SCTID:698253007|MESH:C563466|Orphanet:178338|OMIM:600630|OMIM:614621 https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome owl:Class MONDO:0044347 biolink:NamedThing erythrocyte disorder A disease or disorder that involves the erythrocyte. tmpte7i6ely_mondo_relaxed.owl erythrocyte disease|red blood cell disease|disorder of erythrocyte|disease of erythrocyte|disease or disorder of erythrocyte|erythrocyte disease or disorder|red blood cell disorder SCTID:38292009|UMLS:C0221016|ICD9:289.9 owl:Class MONDO:0020219 biolink:NamedThing corneogoniodysgenesis tmpte7i6ely_mondo_relaxed.owl Orphanet:98635 owl:Class MONDO:0000942 biolink:NamedThing corneal disorder A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl corneal disorder|corneal disease|cornea disease|disorder of cornea|cornea disease or disorder|disease or disorder of cornea|disease of cornea MESH:D003316|ICD9:371.9|ICD10:H18.9|ICD9:371.30|UMLS:C0010034|ICD9:371.89|SCTID:15250008|DOID:10124|NCIT:C26731 owl:Class MONDO:0019095 biolink:NamedThing plague Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. tmpte7i6ely_mondo_relaxed.owl infection by Yersinia pestis|black death|pestilential fever|pest|Yersiniosis|plague ICD10:A20.3|MESH:D015009|UMLS:C0032064|NCIT:C85015|MedDRA:10061416|ICD10:A20.1|Orphanet:707|ICD9:020|ICD10:A20.2|ICD10:A20.7|SCTID:58750007|ICD10:A20.8|ICD9:020.9|DOID:3482|ICD10:A20.0|MESH:D010930|ICD9:136.8|MedDRA:10035148|ICD10:A20.9|ICD10:A20 owl:Class GO:0140238 biolink:NamedThing presynaptic endocytosis A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099003 biolink:NamedThing vesicle-mediated transport in synapse Any vesicle-mediated transport that occurs in a synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043892 biolink:NamedThing prosthesis-related infectious disease A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread. tmpte7i6ely_mondo_relaxed.owl device related infection|infections, prosthesis-related|prosthesis related infections|prosthesis-related infection NCIT:C79705|MESH:D016459|EFO:1002021 owl:Class MONDO:0017241 biolink:NamedThing AP4-related intellectual disability and spastic paraplegia A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene. tmpte7i6ely_mondo_relaxed.owl AP4 deficiency syndrome|AP4 related intellectual disability and spastic paraplegia|severe intellectual disability and progressive spastic paraplegia OMIM:614067|OMIM:612936|Orphanet:280763|UMLS:CN202757|OMIM:614066|OMIM:613744 owl:Class MONDO:0032902 biolink:NamedThing Joubert syndrome 36 tmpte7i6ely_mondo_relaxed.owl JBTS36|JOUBERT SYNDROME 36 OMIM:618763 owl:Class CHEBI:46725 biolink:NamedThing oxide mineral tmpte7i6ely_mondo_relaxed.owl oxide minerals owl:Class CHEBI:24836 biolink:NamedThing inorganic oxide tmpte7i6ely_mondo_relaxed.owl inorganic oxides owl:Class HP:0008062 biolink:NamedThing Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye. tmpte7i6ely_mondo_relaxed.owl UMLS:C4024739 peter 2008-04-02T03:33:00Z human_phenotype owl:Class HP:0007700 biolink:NamedThing Ocular anterior segment dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. tmpte7i6ely_mondo_relaxed.owl Anterior segment dysgenesis|Anterior chamber cleavage defect|Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior segment ocular dysgenesis|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior chamber malformation UMLS:C0266525|SNOMEDCT_US:65075004 In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. HP:0007696|HP:0008040|HP:0007699 human_phenotype owl:Class UBERON:0003929 biolink:NamedThing digestive tract epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11796 biolink:NamedThing THRA tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23443 biolink:NamedThing cyclic amide tmpte7i6ely_mondo_relaxed.owl cyclic amides|cyclic amide owl:Class HGNC:11922 biolink:NamedThing CD27 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18318 biolink:NamedThing ASXL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004737 biolink:NamedThing metanephric collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001232 biolink:NamedThing collecting duct of renal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905747 biolink:NamedThing negative regulation of saliva secretion Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion. tmpte7i6ely_mondo_relaxed.owl downregulation of saliva secretion|down-regulation of saliva secretion|inhibition of saliva secretion|downregulation of salivation|down-regulation of salivation|down regulation of salivation|negative regulation of salivation|inhibition of salivation|down regulation of saliva secretion owl:Class GO:0046877 biolink:NamedThing regulation of saliva secretion Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007991 biolink:NamedThing microcephaly-deafness-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. tmpte7i6ely_mondo_relaxed.owl syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|microcephaly deafness syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies|Kawashima Tsuji syndrome|Kawashima-Tsuji syndrome|microcephaly-deafness syndrome MESH:C537326|UMLS:C0796062|ICD10:Q87.8|OMIM:156620|GARD:0000230|SCTID:716112005|Orphanet:2533 owl:Class MONDO:0002357 biolink:NamedThing hepatic flexure cancer A malignant neoplasm involving the hepatic flexure of colon. tmpte7i6ely_mondo_relaxed.owl cancer of hepatic flexure of colon|malignant neoplasm of hepatic flexure|hepatic flexure of colon cancer|malignant neoplasm of hepatic flexure of colon|Ca hepatic flexure - colon|malignant hepatic flexure of colon neoplasm|malignant tumor of hepatic flexure ICD10:C18.3|DOID:260|ICD9:153.0|UMLS:C0153433|SCTID:363407001 owl:Class MONDO:0002238 biolink:NamedThing ascending colon cancer A malignant neoplasm involving the ascending colon. tmpte7i6ely_mondo_relaxed.owl ascending colon cancer|malignant neoplasm of ascending colon|cancer of ascending colon|malignant neoplasm of right colon|malignant ascending colon neoplasm|malignant tumor of ascending colon|Ca ascending colon DOID:218|ICD9:153.6|SCTID:363412000|UMLS:C0153439|ICD10:C18.2 owl:Class CL:1000616 biolink:NamedThing kidney outer medulla cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001025 cell owl:Class CL:1000504 biolink:NamedThing kidney medulla cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001017 cell owl:Class HGNC:6391 biolink:NamedThing KIF22 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007428 biolink:NamedThing deafness-craniofacial syndrome Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. tmpte7i6ely_mondo_relaxed.owl deafness craniofacial syndrome|deafness-craniofacial syndrome MESH:C565118|OMIM:125230|Orphanet:3241|SCTID:716245003|ICD10:Q87.0|UMLS:C1852278|GARD:0001686 https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome owl:Class UBERON:0000922 biolink:NamedThing embryo tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004631 biolink:NamedThing tongue cancer A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of tongue NOS|malignant neoplasm of tongue, NOS|tongue carcinoma|malignant neoplasm of base of tongue|malignant neoplasm of border of tongue|malignant tumor of anterior two-thirds of tongue|malignant neoplasm of fixed part of tongue NOS|malignant neoplasm of anterior two-thirds of tongue|malignant tongue tumor|cancer of tongue|malignant tumor of the tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of tongue, tip and lateral border|malignant tongue neoplasm|malignant tumor of base of tongue|malignant tumor of lingual tonsil|malignant neoplasm of anterior two-thirds of tongue, part unspecified|malignant tumor of lingual tonsil (disorder)|malignant neoplasm of dorsal tongue NOS|malignant neoplasm of dorsum of tongue|malignant tumor of mobile part of tongue|malignant tumor of posterior tongue|tongue neoplasm, malignant|tongue cancer|malignant neoplasm of dorsal tongue|malignant neoplasm of lingual tonsil|malignant neoplasm of mobile part of tongue|malignant neoplasm of other sites of tongue|malignant neoplasm of anterior 2/3 of tongue|malignant neoplasm of tip and lateral border of tongue|malignant neoplasm of the tongue|malignant neoplasm of tip and/or lateral border of tongue|tongue neoplasm malignant stage unspecified|malignant neoplasm of ventral tongue surface|malignant neoplasm of tongue|malignant tumor of tongue|malignant neoplasm of junctional zone of tongue|tongue neoplasm malignant|malignant neoplasm of mobile part of tongue NOS|malignant neoplasm of ventral surface of tongue|malignant neoplasm of dorsal surface of tongue ICD9:141.9|ICD10:C02.1|ICD10:C02.0|ICD9:141.6|ICD9:141.4|ICD10:C02.2|SCTID:363360003|NCIT:C9345|DOID:8649|ICD9:141.3|ICD9:141.5|ICD9:141.0|ICD9:141|MESH:D014062|ICD9:141.2|ICD10:C02.4|ICD9:141.1|ICD10:C02.9|GARD:0007779|ICD10:C01 https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer owl:Class UBERON:0034717 biolink:NamedThing integumental taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005777 biolink:NamedThing granuloma inguinale A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. tmpte7i6ely_mondo_relaxed.owl pudendal ulcer|donovanosis|granuloma inguinale ICD10:A58|NCIT:C3065|EFO:0007291|GARD:0009532|DOID:9113|MESH:D006100|SCTID:28867007|ICD9:099.2|UMLS:C0018190 https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale owl:Class MONDO:0018654 biolink:NamedThing idiopathic dropped head syndrome tmpte7i6ely_mondo_relaxed.owl isolated neck extensor myopathy Orphanet:447881|UMLS:CN237712 owl:Class MONDO:0004312 biolink:NamedThing suprasellar meningioma A meningioma that affects the suprasellar region. tmpte7i6ely_mondo_relaxed.owl sella turcica meningioma (disease)|meningioma (disease) of sella turcica NCIT:C6776|UMLS:C1336535|DOID:7634 owl:Class MONDO:0015790 biolink:NamedThing central diabetes insipidus Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). tmpte7i6ely_mondo_relaxed.owl diabetes insipidus neurogenic|neurogenic diabetes insipidus|CDI|diabetes insipidus cranial type|diabetes insipidus neurohypophyseal HP:0000863|GARD:0006015|Orphanet:178029|MedDRA:10068587|ICD10:E23.2|OMIM:125700|OMIM:304900 owl:Class MONDO:0015127 biolink:NamedThing pituitary deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:101957|ICD10:E23.0 Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes owl:Class UBERON:0003301 biolink:NamedThing roof plate of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008790 biolink:NamedThing anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism tmpte7i6ely_mondo_relaxed.owl anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism MESH:C565952|OMIM:206400|UMLS:C1859785 owl:Class MONDO:0017951 biolink:NamedThing trichorhinophalangeal syndrome tmpte7i6ely_mondo_relaxed.owl TRPS UMLS:C0265255|Orphanet:324764|ICD9:759.89|SCTID:18077009|OMIMPS:190350|ICD10:Q87.8 owl:Class GO:0006558 biolink:NamedThing L-phenylalanine metabolic process The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. tmpte7i6ely_mondo_relaxed.owl phenylalanine metabolism|L-phenylalanine metabolism|phenylalanine metabolic process owl:Class HGNC:2212 biolink:NamedThing COL6A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003947 biolink:NamedThing hyper-IgM syndrome A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. tmpte7i6ely_mondo_relaxed.owl immunodeficiency with hyper-IgM|hyperimmunoglobulin M syndrome OMIMPS:308230|NCIT:C3990|Wikidata:Q1617658|ICD9:279.05|MESH:D053306|DOID:0080544|UMLS:C0272236|SCTID:82286005 Editor note: consider merging two NCIT classes owl:Class MONDO:0001925 biolink:NamedThing retinal dystrophy in systemic or cerebroretinal lipidoses tmpte7i6ely_mondo_relaxed.owl ICD9:362.71|DOID:14253 owl:Class MONDO:0015070 biolink:NamedThing laryngeal neuroendocrine neoplasm A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma. tmpte7i6ely_mondo_relaxed.owl laryngeal neuroendocrine tumor|laryngeal neuroendocrine neoplasm|neuroendocrine neoplasm of the larynx|neuroendocrine tumor of larynx|larynx neuroendocrine tumor|larynx neuroendocrine neoplasm|larynx NET|neuroendocrine neoplasm of larynx|larynx neuroendocrine tumor, well differentiated, low or intermediate grade UMLS:C1334374|Orphanet:100083|NCIT:C6023|DOID:5457|SCTID:707625001 owl:Class MONDO:0024876 biolink:NamedThing tendon sheath disorder A disease that involves the tendon sheath. tmpte7i6ely_mondo_relaxed.owl disease or disorder of tendon sheath|tendon sheath disorder|disorder of tendon sheath|tendon sheath disease or disorder|disease of tendon sheath|tendon sheath disease ICD9:727.9|UMLS:C0729734|SCTID:312381009 owl:Class MONDO:0041295 biolink:NamedThing acute papillary necrosis Acute form of kidney papillary necrosis. tmpte7i6ely_mondo_relaxed.owl acute papillary necrosis|acute kidney papillary necrosis|acute renal medullary necrosis|acute necrotizing papillitis|kidney papillary necrosis, acute SCTID:270494003 owl:Class MONDO:0002462 biolink:NamedThing glomerulonephritis A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. tmpte7i6ely_mondo_relaxed.owl renal glomerulus nephritis|glomerulonephritis|glomerular nephritis|glomerulonephritis (disease)|nephritis of renal glomerulus|bright's disease glomerulonephritis (disease) HP:0000099|UMLS:C0017658|ICD10:N05|MESH:D005921|DOID:2921|ICD10:N08|GARD:0006516|NCIT:C26784|ICD9:583.9|SCTID:36171008 owl:Class MONDO:0013609 biolink:NamedThing Meckel syndrome, type 10 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. tmpte7i6ely_mondo_relaxed.owl JBTS34|Meckel syndrome, type 10|B9D2 Meckel syndrome|Meckel syndrome caused by mutation in B9D2|MKS10|Joubert syndrome 34 Orphanet:564|GTR:AN1012610|GTR:AN1012156|UMLS:CN620433|UMLS:C3280036|OMIM:614175 owl:Class MONDO:0023214 biolink:NamedThing gas bloat syndrome tmpte7i6ely_mondo_relaxed.owl post-fundoplication syndrome MESH:C535647|GARD:0006484|UMLS:C2930966 https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome owl:Class MONDO:0010126 biolink:NamedThing thymic aplasia with fetal death tmpte7i6ely_mondo_relaxed.owl thymic aplasia with fetal death OMIM:274210|UMLS:C1848815|MESH:C564768 owl:Class UBERON:0010883 biolink:NamedThing forelimb cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010881 biolink:NamedThing limb cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035306 biolink:NamedThing positive regulation of dephosphorylation Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. tmpte7i6ely_mondo_relaxed.owl stimulation of dephosphorylation|upregulation of dephosphorylation|activation of dephosphorylation|up-regulation of dephosphorylation|up regulation of dephosphorylation owl:Class GO:0045937 biolink:NamedThing positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpte7i6ely_mondo_relaxed.owl up regulation of phosphate metabolic process|up-regulation of phosphate metabolic process|positive regulation of phosphate metabolism|stimulation of phosphate metabolic process|upregulation of phosphate metabolic process|activation of phosphate metabolic process owl:Class MONDO:0007260 biolink:NamedThing Car factor deficiency tmpte7i6ely_mondo_relaxed.owl Car factor deficiency UMLS:C1861898|OMIM:114650|MESH:C566176 owl:Class MONDO:0005872 biolink:NamedThing nervous system cancer A primary or metastatic malignant neoplasm involving the nervous system. tmpte7i6ely_mondo_relaxed.owl malignant nervous system tumor|malignant neoplasm of the nervous system|neural neoplasm|tumor of the nervous system|nervous system cancer|malignant neoplasm of nervous system|neural tumor|malignant nervous system neoplasm|nervous system neoplasm|cancer of nervous system|malignant tumor of the nervous system|malignant tumor of nervous system|nervous system neoplasms, malignant DOID:3093|NCIT:C4788|ICD9:192|ICD9:192.9|SCTID:372063002|MESH:D009423|ICD9:192.8|EFO:0007392 owl:Class MONDO:0001143 biolink:NamedThing paralytic strabismus tmpte7i6ely_mondo_relaxed.owl incomitant dissociation|paralytic squint ICD10:H49.9|ICD10:H49|SCTID:400942002|UMLS:C0152221|ICD9:378.50|ICD9:378.5|HP:0031775|DOID:10863 owl:Class MONDO:0003432 biolink:NamedThing strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. tmpte7i6ely_mondo_relaxed.owl strabismus|squint NCIT:C35040|SCTID:22066006|ICD10:H50.89|ICD10:H50.8|ICD9:378.40|DOID:540|UMLS:C0038379|ICD9:378.7 owl:Class UBERON:0010540 biolink:NamedThing tarsus pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003328 biolink:NamedThing mesenchyme of footplate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003827 biolink:NamedThing transient hypogammaglobulinemia A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. tmpte7i6ely_mondo_relaxed.owl UMLS:C0859960|NCIT:C27319|DOID:625 owl:Class MONDO:0016463 biolink:NamedThing syndromic agammaglobulinemia A agammaglobulinemia that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with agammaglobulinemia|hypogammaglobulinemia|syndromic agammaglobulinemia|syndromic hypogammaglobulinemia NCIT:C26931|Orphanet:229720|UMLS:CN226939 owl:Class HGNC:5285 biolink:NamedThing HTOR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013396 biolink:NamedThing chromosome 1p32-p31 deletion syndrome 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. tmpte7i6ely_mondo_relaxed.owl 1p31p32 microdeletion syndrome|monosomy 1p31p32|Del(1)(p31p32)|BRMUTD|brain malformations with or without urinary tract defects|chromosome 1p32-p31 deletion syndrome SCTID:766766005|Orphanet:401986|ICD10:Q93.5|OMIM:613735|DOID:0060409|UMLS:CN226149|UMLS:C3151036 owl:Class MONDO:0032792 biolink:NamedThing neuropathy, hereditary motor and sensory, type VIc, with optic atrophy tmpte7i6ely_mondo_relaxed.owl CMT 6C|Charcot-Marie-Tooth Disease, Type 6C|HMSN 6C|HMSN6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy|CMT6C OMIM:618511 owl:Class MONDO:0019551 biolink:NamedThing hereditary motor and sensory neuropathy type 6 tmpte7i6ely_mondo_relaxed.owl CMT6|hereditary motor and sensory neuropathy type 6|Charcot-Marie-Tooth disease type 6|peripheral neuropathy and optic atrophy ICD10:G60.0|OMIM:616505|Orphanet:90120|UMLS:C0393807|OMIM:601152|DOID:0080068 owl:Class MONDO:0016879 biolink:NamedThing partial deletion of chromosome 17 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 17|partial monosomy of chromosome 17 Orphanet:261831|ICD10:Q93.5 owl:Class MONDO:0020502 biolink:NamedThing yellow fever Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. tmpte7i6ely_mondo_relaxed.owl YF|sylvatic yellow fever|jungle yellow fever|Yellow fever, sylvan|Yellow fever virus disease or disorder|Yellow fever virus caused disease or disorder|Yellow fever virus infectious disease|urban yellow fever|Yellow Jack|bronze John|Yellow fever Virus infection DOID:9682|ICD10:A95.0|ICD10:A95.1|ICD10:A95.9|Orphanet:99829|NCIT:C35547|ICD9:060.9|GARD:0007914|UMLS:C0043398|ICD10:A95|MESH:D015004|UMLS:C0043395|ICD9:060|MedDRA:10048240|UMLS:C0043397 https://rarediseases.info.nih.gov/diseases/7914/yellow-fever owl:Class ENVO:01001091 biolink:NamedThing formation of a liquid aerosol from gaseous material in an atmosphere A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere. tmpte7i6ely_mondo_relaxed.owl atmospheric formation of a liquid aerosol|formation of a liquid aerosol in the atmosphere|formation of liquid particles from gaseous material in an atmosphere|formation of liquid droplets from gaseous material in an atmosphere|formation of a liquid aerosol in an atmosphere owl:Class ENVO:01001087 biolink:NamedThing formation of a liquid aerosol in an atmosphere A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere. tmpte7i6ely_mondo_relaxed.owl formation of liquid droplets in an atmosphere|formation of liquid particles in an atmosphere owl:Class UBERON:0002104 biolink:NamedThing visual system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001032 biolink:NamedThing sensory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011746 biolink:NamedThing symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch tmpte7i6ely_mondo_relaxed.owl symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch|distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch MESH:C538148|UMLS:C1847185|GARD:0008554|OMIM:606895 https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch owl:Class CHEBI:37133 biolink:NamedThing barium molecular entity tmpte7i6ely_mondo_relaxed.owl barium molecular entities|barium compounds|barium molecular entity owl:Class CHEBI:33299 biolink:NamedThing alkaline earth molecular entity An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal. tmpte7i6ely_mondo_relaxed.owl alkaline earth molecular entity|alkaline earth molecular entities|alkaline-earth compounds|alkaline earth compounds owl:Class MONDO:0032938 biolink:NamedThing basal ganglia calcification, idiopathic, 8, autosomal recessive tmpte7i6ely_mondo_relaxed.owl BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE|IBGC8 OMIM:618824 owl:Class MONDO:0010531 biolink:NamedThing contractures-ectodermal dysplasia-cleft lip/palate syndrome Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. tmpte7i6ely_mondo_relaxed.owl Ladda Zonana Ramer syndrome|congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay|contractures ectodermal dysplasia cleft lip palate|Ladda-Zonana-Ramer syndrome ICD10:Q87.8|GARD:0001515|Orphanet:1484|SCTID:720746006|OMIM:301815 owl:Class HGNC:3236 biolink:NamedThing EGFR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001739 biolink:NamedThing purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. tmpte7i6ely_mondo_relaxed.owl acute suppurative labyrinthitis|bacterial labyrinthitis|suppurative labyrinthitis ICD9:386.33|SCTID:24817009|DOID:13534|UMLS:C0155506 owl:Class MONDO:0100451 biolink:NamedThing CEP290-related ciliopathy A ciliopathy caused by biallelic variants in the CEP290 gene. tmpte7i6ely_mondo_relaxed.owl Meckel-Gruber syndrome, type 4|CEP290 Senior-Loken syndrome|Joubert syndrome 5|Joubert syndrome type 5|Meckel-like Cerebrorenodigital syndrome|SENIOR-Loken syndrome 6|LCA10|CEP290 Joubert syndrome|Senior-Loken syndrome 6|Senior-Loken syndrome type 6|CEP290 Meckel syndrome|CEP290 ciliopathy|Meckel syndrome caused by mutation in CEP290|Senior-Loken syndrome caused by mutation in CEP290|Bardet-Biedl syndrome 14|Bardet-Biedl syndrome type 14|MKS4|Joubert syndrome caused by mutation in CEP290|BBS14|CEP290 Leber congenital amaurosis|Meckel syndrome 4|SLSN6|JBTS5|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis 10|Leber congenital amaurosis type 10|amaurosis congenita of Leber, type 10|Meckel syndrome, type 4 owl:Class MONDO:0004204 biolink:NamedThing squamous cell skin papilloma A squamous papilloma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl hyperkeratotic skin papilloma|Dyskeratotic papilloma of the skin|hyperkeratotic papilloma of the skin|parakeratotic papilloma of skin|Dyskeratotic skin papilloma|parakeratotic skin papilloma|squamous cell skin papilloma|zone of skin squamous papilloma|squamous cell papilloma of the skin|squamous cell papilloma of skin|parakeratotic papilloma of the skin|hyperkeratotic papilloma of skin|Dyskeratotic papilloma of skin NCIT:C4462|DOID:7380|UMLS:C0345983|SCTID:254661000 owl:Class MONDO:0000736 biolink:NamedThing dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. tmpte7i6ely_mondo_relaxed.owl dyschromatosis universalis|DUH MESH:C535730|ICD10:L81.8|OMIM:612715|GARD:0001996|Orphanet:241|OMIM:127500|OMIM:615402|OMIMPS:127500|UMLS:C2930995|SCTID:239082002|DOID:0060304|UMLS:C1306229 https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria owl:Class HGNC:16512 biolink:NamedThing BSND tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001517 biolink:NamedThing dysentery Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. tmpte7i6ely_mondo_relaxed.owl dysenteric diarrhea|infectious diarrhea|infective diarrhea|infectious diarrheal disease|infectious diarrheal diseases|diarrheal disease, infectious EFO:1001869|SCTID:111939009|UMLS:C0013369|ICD9:009.2|MESH:D004403|SCTID:19213003|DOID:12384 https://github.com/monarch-initiative/mondo/issues/3703 owl:Class MONDO:0000916 biolink:NamedThing intestinal infectious disease An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. tmpte7i6ely_mondo_relaxed.owl bacterial enteritis ICD9:001-009.99|DOID:100|ICD9:008.8|UMLS:C0152516|UMLS:C0178238|ICD10:A00-A09|SCTID:266071000|ICD10:A00.A09 owl:Class UBERON:0035398 biolink:NamedThing branch of external carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046950 biolink:NamedThing cellular ketone body metabolic process The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. tmpte7i6ely_mondo_relaxed.owl cellular ketone body metabolism owl:Class ECTO:9001975 biolink:NamedThing exposure to antimicrobial food preservative An exposure to antimicrobial food preservative. tmpte7i6ely_mondo_relaxed.owl exposure to antimicrobial food preservative owl:Class MONDO:0009902 biolink:NamedThing cutaneous porphyria Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. tmpte7i6ely_mondo_relaxed.owl Cep|Günther disease|uroporphyrinogen III synthase, deficiency of|congenital erythropoietic porphyria|uroporphyrinogen 3 synthase deficiency|congenital porphyria|Uros deficiency|Gunther disease|cutaneous porphyria|porphyria, congenital erythropoietic|CEP|erythropoietic porphyria NCIT:C84697|Orphanet:79277|GARD:0004446|DOID:13271|MESH:D017092|OMIM:263700|ICD10:E80.0|SCTID:67312003 owl:Class CHEBI:76895 biolink:NamedThing EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*). tmpte7i6ely_mondo_relaxed.owl EC 3.6.3.* inhibitors|EC 3.6.3.* inhibitor|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors|EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitor owl:Class CHEBI:73216 biolink:NamedThing EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*). tmpte7i6ely_mondo_relaxed.owl EC 3.6.* (hydrolases acting on acid anhydrides) inhibitors|acid anhydride hydrolase inhibitors|EC 3.6.* inhibitor|EC 3.6.* inhibitors|inhibitor of hydrolase acting on acid anhydride (EC 3.6.*)|acid anhydride hydrolase inhibitor|EC 3.6 inhibitor|EC 3.6.*.* inhibitor|inhibitors of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.*.* inhibitors|EC 3.6 inhibitors owl:Class CL:1000303 biolink:NamedThing fibroblast of areolar connective tissue A fibroblast that is part of the areolar connective tissue. tmpte7i6ely_mondo_relaxed.owl FMA:261279 cell owl:Class GO:0045540 biolink:NamedThing regulation of cholesterol biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpte7i6ely_mondo_relaxed.owl regulation of cholesterol formation|regulation of cholesterol biosynthesis|regulation of cholesterol synthesis|regulation of cholesterol anabolism owl:Class GO:0090181 biolink:NamedThing regulation of cholesterol metabolic process Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004433 biolink:NamedThing papillary carcinoma of the penis A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern. tmpte7i6ely_mondo_relaxed.owl penis papillary carcinoma|papillary squamous carcinoma of penis|papillary penile squamous carcinoma|papillary penile carcinoma|squamous carcinoma of the penis, papillary type|papillary carcinoma of the penis|papillary squamous carcinoma of the penis|squamous carcinoma of penis, papillary type|papillary carcinoma of penis DOID:8013|NCIT:C6983|UMLS:C1335322 owl:Class MONDO:0002979 biolink:NamedThing papillary squamous carcinoma A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva. tmpte7i6ely_mondo_relaxed.owl papillary epidermoid carcinoma|papillary squamous cell carcinoma|papillary epidermoid cell carcinoma|papillary squamous carcinoma ICDO:8052/3|DOID:4385|UMLS:C0334244|NCIT:C4102 owl:Class HGNC:399 biolink:NamedThing ALB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017681 biolink:NamedThing erythrokeratoderma variabilis progressiva A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.8|Orphanet:308166 owl:Class MONDO:0019270 biolink:NamedThing erythrokeratoderma tmpte7i6ely_mondo_relaxed.owl ICD9:757.39|Orphanet:79355|SCTID:254215005|MedDRA:10015280 owl:Class MONDO:0000415 biolink:NamedThing adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood. tmpte7i6ely_mondo_relaxed.owl DOID:0050705 owl:Class MONDO:0000411 biolink:NamedThing electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. tmpte7i6ely_mondo_relaxed.owl electro-clinical syndrome DOID:0050701 owl:Class MONDO:0005695 biolink:NamedThing central nervous system AIDS arteritis Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections. tmpte7i6ely_mondo_relaxed.owl AIDS associated cerebral aneurysmal arteriopathy|CNS vasculitis, HIV associated|cerebral aneurysmal arteriopathy, AIDS-associated|HIV 1 associated CNS vasculitis|HIV-associated CNS Vasculitides|CNS vasculitis, HIV-1-associated|CNS Vasculitides, HIV-1-associated|Vasculitides, HIV-associated CNS|HIV associated vasculitis of the central nervous system|CNS vasculitis, HIV-associated|vasculitis, HIV-1-associated CNS|CNS Vasculitides, HIV-associated|AIDS-associated cerebral aneurysmal arteriopathy|HIV-associated vasculitis of the central nervous system|HIV-1-associated CNS vasculitis|vasculitis of the central nervous system, HIV associated|Vasculitides, HIV-1-associated CNS|HIV-associated CNS vasculitis|central nervous system AIDS arteritis|HIV-1-associated CNS Vasculitides|vasculitis of the central nervous system, HIV-associated|vasculitis, HIV-associated CNS|cerebral aneurysmal arteriopathy, AIDS associated MESH:D020943|UMLS:C0752330|UMLS:C0752329|EFO:0007198|UMLS:C0752331 owl:Class MONDO:0024318 biolink:NamedThing viral infection of central nervous system tmpte7i6ely_mondo_relaxed.owl central nervous system viral infection|viral disease of central nervous system|viral infection of central nervous system UMLS:C0348165|SCTID:302810003|MESH:D020805|ICD10:A80.A89 owl:Class GO:0071901 biolink:NamedThing negative regulation of protein serine/threonine kinase activity Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071900 biolink:NamedThing regulation of protein serine/threonine kinase activity Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010710 biolink:NamedThing Pierre Robin syndrome-faciodigital anomaly syndrome This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal. tmpte7i6ely_mondo_relaxed.owl Pierre Robin syndrome, faciodigital anomaly|Chitayat Meunier Hodgkinson syndrome|Pierre Robin sequence-faciodigital anomaly syndrome|Pierre Robin sequence with facial and digital anomalies|Chitayat-Meunier-Hodgkinson syndrome|Robin sequence with facial and digital anomalies ICD10:Q87.8|OMIM:311895|Orphanet:2888|SCTID:723461007|MESH:C535926|UMLS:C2931064|GARD:0001274 https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome owl:Class MONDO:0015816 biolink:NamedThing indolent primary cutaneous T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl Orphanet:178548 owl:Class MONDO:0015758 biolink:NamedThing primary cutaneous T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl Orphanet:171901|ICD10:C84.8|MESH:D016410|GARD:0006226|MedDRA:10011677 owl:Class MONDO:0014765 biolink:NamedThing woolly hair, autosomal recessive 3 Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene. tmpte7i6ely_mondo_relaxed.owl woolly hair, autosomal recessive type 3|ARWH3|woolly hair, autosomal recessive 3|KRT25 woolly hair (disease)|woolly hair, autosomal recessive 3, with hypotrichosis|woolly hair (disease) caused by mutation in KRT25 DOID:0111574|UMLS:C4225214|OMIM:616760 owl:Class MONDO:0008686 biolink:NamedThing isolated familial woolly hair disorder Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. tmpte7i6ely_mondo_relaxed.owl hereditary woolly hair (autosomal dominant)|hereditary woolly hair syndrome|familial wooly hair syndrome|familial woolly hair syndrome|ADWH|woolly hair, autosomal dominant|wooly hair|hereditary wooly hair syndrome|familial woolly hair (autosomal recessive)|woolly hair|woolly hair syndrome MedDRA:10048017|HP:0002224|OMIM:278150|MESH:C536745|Orphanet:170|OMIM:616760|OMIM:615896|GARD:0005597|ICD10:Q84.1|SCTID:52564001|UMLS:CN200245|DOID:0111572|OMIM:604379 owl:Class MONDO:0018216 biolink:NamedThing Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl monosomy 17q21.31|Del(17)(q21.31) MESH:C566476|UMLS:C1864871|DOID:0070076|SCTID:717338006|Orphanet:363958|OMIM:610443|DOID:0050880|UMLS:CN204740|ICD10:Q93.5 https://github.com/monarch-initiative/mondo/issues/4174 owl:Class MONDO:0024392 biolink:NamedThing anaerobic balanitis tmpte7i6ely_mondo_relaxed.owl anaerobic balanitis SCTID:236746000|UMLS:C0403764 owl:Class MONDO:0014384 biolink:NamedThing hypotrichosis 12 Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene. tmpte7i6ely_mondo_relaxed.owl hypotrichosis 12|hypotrichosis type 12|HYPT12|RPL21 hypotrichosis|hypotrichosis caused by mutation in RPL21|hypt12 OMIM:615885|DOID:0110709|Orphanet:55654|UMLS:C4014563 owl:Class CHEBI:28659 biolink:NamedThing phosphorus atom tmpte7i6ely_mondo_relaxed.owl P|phosphorus|fosforo|15P|Phosphorus|Phosphor|phosphore owl:Class MONDO:0018630 biolink:NamedThing hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. tmpte7i6ely_mondo_relaxed.owl familial nonpolyposis colon cancer|hereditary nonpolyposis colorectal cancer|Hereditary nonpolyposis colorectal cancer (HNPCC)|colorectal cancer, hereditary nonpolyposis|HNPCC|familial nonpolyposis colorectal cancer|hereditary nonpolyposis colon cancer UMLS:CN237674|OMIMPS:120435|SCTID:315058005|Orphanet:443909|NCIT:C120083 https://github.com/monarch-initiative/mondo/issues/1673|https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc owl:Class MONDO:0032737 biolink:NamedThing spastic paraplegia 80, autosomal dominant tmpte7i6ely_mondo_relaxed.owl SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT|SPG80 OMIM:618418 owl:Class MONDO:0019064 biolink:NamedThing hereditary spastic paraplegia Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. tmpte7i6ely_mondo_relaxed.owl familial spastic paraplegia|French settlement disease|HSP|Strümpell-Lorrain disease|SPG|spastic paraplegia|familial spastic paraparesis|hereditary spastic paraparesis|Strumpell-Lorrain disease|FSP MESH:D015419|ICD10:G11.4|NCIT:C140267|UMLS:C2931355|DOID:2476|MedDRA:10019903|Orphanet:685|SCTID:76043009|ICD9:334.1|SCTID:39912006|GARD:0006637|OMIMPS:303350 https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia owl:Class MONDO:0013620 biolink:NamedThing congenital myasthenic syndrome 16 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. tmpte7i6ely_mondo_relaxed.owl SCN4A congenital myasthenic syndrome|myasthenic syndrome, congenital, type 16|congenital myasthenic syndrome caused by mutation in SCN4A|congenital myasthenic syndrome type 16|myasthenic syndrome, congenital, Acetazolamide-responsive|myasthenic syndrome, congenital, 16|CMS16|congenital myasthenic syndrome acetazolamide-responsive DOID:0110682|Orphanet:590|Orphanet:98913|OMIM:614198 owl:Class UBERON:0004114 biolink:NamedThing tympanic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017444 biolink:NamedThing congenital absence of both lower leg and foot tmpte7i6ely_mondo_relaxed.owl tibiofibular terminal transverse meromelia ICD10:Q72.2|Orphanet:294981|SCTID:278532000 owl:Class MONDO:0001653 biolink:NamedThing prepuce cancer A malignant neoplasm involving the prepuce. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of prepuce|malignant prepuce neoplasm|prepuce cancer|malignant tumor of foreskin|malignant neoplasm of foreskin|cancer of prepuce ICD10:C60.0|DOID:13168|ICD9:187.1|UMLS:C0153598|SCTID:363450006 owl:Class MONDO:0016038 biolink:NamedThing calcified aponeurotic fibroma A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells. tmpte7i6ely_mondo_relaxed.owl calcifying aponeurotic fibroma|Juvenile aponeurotic fibrosis|Juvenile aponeurotic fibroma|Keasby tumor|juvenile aponeurotic fibromatosis NCIT:C4818|UMLS:C0553647|ICD10:M72.8|SCTID:703614006|Orphanet:199260 owl:Class MONDO:0003410 biolink:NamedThing Wolffian duct adenocarcinoma A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. tmpte7i6ely_mondo_relaxed.owl cervical mesonephric adenocarcinoma|Wolffian duct adenocarcinoma|mesonephric duct adenocarcinoma NCIT:C40254|UMLS:C1516419|DOID:5368 owl:Class MONDO:0005086 biolink:NamedThing renal cell carcinoma A carcinoma that arises from glandular epithelial cells of the kidney tmpte7i6ely_mondo_relaxed.owl kidney adenocarcinoma|RCC|renal cell adenocarcinoma|hypernephroma|renal cell carcinoma|renal cell carcinoma (disease) renal cell carcinoma (disease) EFO:0000681|HP:0005584|DOID:4450|ICD9:189.0|GARD:0013215|OMIM:300854|OMIM:144700|MedDRA:10067946|SCTID:254915003|SCTID:702391001|NCIT:C9385|ONCOTREE:RCC|Orphanet:217071|MESH:D002292 owl:Class HP:0002981 biolink:NamedThing Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. tmpte7i6ely_mondo_relaxed.owl Abnormality of the calf UMLS:C4021832 human_phenotype owl:Class HP:0002814 biolink:NamedThing Abnormality of the lower limb An abnormality of the leg. tmpte7i6ely_mondo_relaxed.owl Lower limb deformities|Abnormality of the leg|Abnormality of the lower limb SNOMEDCT_US:449715001|UMLS:C1096086 human_phenotype owl:Class MONDO:0005677 biolink:NamedThing Rickettsia conorii infectious disease tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012916 biolink:NamedThing chromosome 2p16.1-p15 deletion syndrome 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl monosomy 2p15p16.1|2p15p16.1 microdeletion syndrome|chromosome 2p16.1-p15 deletion syndrome|Del(2)(p15p16.1)|monosomy 2p15-p16.1|2p15-p16.1 microdeletion syndrome MESH:C567289|UMLS:C4304538|GARD:0013391|OMIM:612513|Orphanet:261349|ICD10:Q93.5|SCTID:719651000|UMLS:C2675875|DOID:0060415 owl:Class OBO:CHR_9606-chr12q biolink:NamedThing 12q (Human) tmpte7i6ely_mondo_relaxed.owl 133275309 35500000 hg38 owl:Class NCBITaxon:942 biolink:NamedThing Anaplasmataceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11760958 ncbi_taxonomy owl:Class UBERON:0014705 biolink:NamedThing median lingual swelling epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022297 biolink:NamedThing palpebral branch of infra-orbital nerve tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:29987 biolink:NamedThing glutamate(2-) A dicarboxylic acid dianion that is the conjugate base of glutamate(1-). tmpte7i6ely_mondo_relaxed.owl glutamate(2-)|glutamic acid dianion|glutamate|2-aminopentanedioate owl:Class CHEBI:28965 biolink:NamedThing dicarboxylic acid dianion A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid. tmpte7i6ely_mondo_relaxed.owl a dicarboxylate|dicarboxylic acid dianions|dicarboxylates|dicarboxylate|dicarboxylic acid dianion owl:Class MONDO:0005838 biolink:NamedThing mansonelliasis A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. tmpte7i6ely_mondo_relaxed.owl Mansonellosis|Mansonella perstans infections EFO:0007357|Orphanet:2459|DOID:1081|MESH:D008368|SCTID:240849009|UMLS:C0024759|GARD:0008216|ICD10:B74.4|NCIT:C84882 https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis owl:Class MONDO:0016075 biolink:NamedThing filariasis A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. tmpte7i6ely_mondo_relaxed.owl disease due to superfamily Filarioidea ICD10:B74.0|ICD10:B74.2|ICD9:125.9|ICD10:B74.8|MESH:D005368|UMLS:C0016085|ICD10:B74|ICD10:B74.9|ICD10:B74.4|SCTID:105706003|ICD10:B74.1|DOID:1080|Orphanet:2034|MedDRA:10016674|NCIT:C34611|ICD10:B74.3 owl:Class PATO:0001306 biolink:NamedThing decreased temperature A temperature which is relatively low. tmpte7i6ely_mondo_relaxed.owl cold|low temperature owl:Class ECTO:9001628 biolink:NamedThing exposure to gas molecular entity An exposure to gas molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to gas molecular entity owl:Class ECTO:0000231 biolink:NamedThing exposure to chemical An exposure to chemical entity. tmpte7i6ely_mondo_relaxed.owl exposure to chemical entity owl:Class UBERON:0016497 biolink:NamedThing epicondyle of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030936 biolink:NamedThing transmembrane collagen trimer Any collagen trimer that passes through a lipid bilayer membrane. tmpte7i6ely_mondo_relaxed.owl MACIT owl:Class GO:0098797 biolink:NamedThing plasma membrane protein complex Any protein complex that is part of the plasma membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002286 biolink:NamedThing third ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004086 biolink:NamedThing brain ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005097 biolink:NamedThing squamous cell lung carcinoma A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of the lung|squamous cell carcinoma of lung|squamous cell lung carcinoma|lung squamous cell carcinoma|epidermoid cell carcinoma of lung|squamous cell lung cancer|epidermoid cell carcinoma of the lung|epidermoid cell lung carcinoma ONCOTREE:LUSC|ICD9:162.9|UMLS:C0149782|EFO:0000708|DOID:3907|NCIT:C3493|SCTID:254634000 In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC owl:Class UBERON:0014452 biolink:NamedThing gustatory epithelium of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002926 biolink:NamedThing gustatory epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:869 biolink:NamedThing ATP7A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004046 biolink:NamedThing childhood brain meningioma A brain meningioma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl Brain meningioma|pediatric brain meningioma|pediatric meningioma of the brain|pediatric meningioma of brain|brain pediatric meningioma|childhood meningioma of brain|childhood meningioma of the brain UMLS:C1332949|DOID:6939|NCIT:C6253 owl:Class MONDO:0001500 biolink:NamedThing gender identity disorder A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). tmpte7i6ely_mondo_relaxed.owl ICD9:302.85|NCIT:C94362|ICD9:302.8|ICD9:302.6|DOID:1234|ICD10:F64.2|ICD9:302.89|EFO:0008587|SCTID:87991007 owl:Class MONDO:0013086 biolink:NamedThing neuroblastoma, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl neuroblastoma, susceptibility to, 6|NBLST6 OMIM:613017 owl:Class PATO:0000068 biolink:NamedThing qualitative tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015588 biolink:NamedThing limbic encephalitis Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy. tmpte7i6ely_mondo_relaxed.owl SCTID:230192003|Orphanet:163892|MESH:D020363|GARD:0008742|ICD9:323.9 https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis owl:Class MONDO:0019956 biolink:NamedThing encephalitis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. tmpte7i6ely_mondo_relaxed.owl brain inflammation ICD9:323.9|ICD9:323.8|MESH:D004660|UMLS:C0014038|DOID:9588|NCIT:C26760|Orphanet:97275|SCTID:45170000|ICD9:323.0|MedDRA:10014581|ICD10:A85 Editor note: consider merging with brain inflammation owl:Class MONDO:0060577 biolink:NamedThing neurodevelopmental disorder with microcephaly, ataxia, and seizures tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, ataxia, and seizures|NEDMAS UMLS:C4540188|OMIM:617709 owl:Class GO:0001578 biolink:NamedThing microtubule bundle formation A process that results in a parallel arrangement of microtubules. tmpte7i6ely_mondo_relaxed.owl microtubule bundling owl:Class MONDO:0032933 biolink:NamedThing chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant tmpte7i6ely_mondo_relaxed.owl CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT OMIM:618815 owl:Class MONDO:0017012 biolink:NamedThing partial duplication of the short arm of chromosome 1 tmpte7i6ely_mondo_relaxed.owl partial duplication of the short arm of chromosome type 1|partial duplication of chromosome 1p|partial trisomy of chromosome 1p Orphanet:264431 owl:Class MONDO:0006670 biolink:NamedThing bacterial meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. tmpte7i6ely_mondo_relaxed.owl Bacteria caused infectious meningitis|meningitis, bacterial|Bacteria infectious meningitis ICD9:320|ICD10:G00|MedDRA:10004049|SCTID:95883001|MESH:D016920|DOID:9470|GARD:0005881|NCIT:C118297|EFO:1000831|ICD9:320.9|ICD10:G00.9|ICD9:320.7|UMLS:C0085437|ICD9:320.89 https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis owl:Class HGNC:17494 biolink:NamedThing GJC2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:59163 biolink:NamedThing biomarker A substance used as an indicator of a biological state. tmpte7i6ely_mondo_relaxed.owl biological marker owl:Class CHEBI:47867 biolink:NamedThing indicator Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. tmpte7i6ely_mondo_relaxed.owl Indikator owl:Class MONDO:0009473 biolink:NamedThing isotretinoin-like syndrome Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. tmpte7i6ely_mondo_relaxed.owl Kawashima syndrome|Isotretinoin embryopathy like syndrome|ISOTRETINOIN embryopathy-like syndrome|microtia-aortic Arch syndrome|syndrome of microtia and aortic arch anomalies|microtia aortic arch syndrome|microtia-aortic arch syndrome SCTID:722006004|OMIM:243440|Orphanet:2306|MESH:C535542|ICD10:Q87.8|GARD:0009675 owl:Class UBERON:0009668 biolink:NamedThing ventral mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033637 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 7 tmpte7i6ely_mondo_relaxed.owl MC4DN7 OMIM:619051 owl:Class MONDO:0033885 biolink:NamedThing mitochondrial complex IV deficiency, nuclear-type tmpte7i6ely_mondo_relaxed.owl OMIMPS:220110 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0011863 biolink:NamedThing bone collagen fibril tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002190 biolink:NamedThing vulvar syringoma A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis. tmpte7i6ely_mondo_relaxed.owl vulvar syringoma|mammalian vulva syringoma|syringoma of mammalian vulva NCIT:C40311|UMLS:C1520099|DOID:2064 owl:Class MONDO:0020445 biolink:NamedThing agenesis of the superior vena cava Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome. tmpte7i6ely_mondo_relaxed.owl absence of the superior caval vein|absence of the SVC|agenesis of the superior caval vein|agenesis of the SVC|absence of the superior vena cava ICD10:Q26.8|Orphanet:99114|ICD9:747.49|SCTID:204464007 owl:Class MONDO:0019829 biolink:NamedThing congenital anomaly of superior vena cava tmpte7i6ely_mondo_relaxed.owl congenital anomaly of superior caval vein|congenital anomaly of the SVC ICD9:747.49|SCTID:70195006|Orphanet:95498|ICD10:Q26.9 owl:Class MONDO:0020561 biolink:NamedThing myxoid/round cell liposarcoma Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS. tmpte7i6ely_mondo_relaxed.owl MRCLS|myxoid/round-cell liposarcoma OMIM:613488|ONCOTREE:MRLS|Orphanet:99967|MESH:D018208|ICD10:C49.9 owl:Class MONDO:0005060 biolink:NamedThing liposarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. tmpte7i6ely_mondo_relaxed.owl sarcoma of lip|liposarcoma, malignant|liposarcoma|lip sarcoma UMLS:C0023827|DOID:3382|EFO:0000569|GARD:0006913|ONCOTREE:LIPO|NCIT:C3194|MESH:D008080|OMIM:613488|Orphanet:69078|SCTID:254829001|ICD9:171.9|MedDRA:10024627|ICD10:C49.9|ICDO:8850/3 https://rarediseases.info.nih.gov/diseases/6913/liposarcoma owl:Class MONDO:0012846 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 6 tmpte7i6ely_mondo_relaxed.owl Gefs+, type 6|GEFSP6|generalized epilepsy with febrile seizures plus, type 6 UMLS:C2677078|DOID:0111300|MESH:C567371|Orphanet:36387|OMIM:612279 owl:Class MONDO:0008250 biolink:NamedThing isolated growth hormone deficiency type II tmpte7i6ely_mondo_relaxed.owl IGHD 2|Growth hormone deficiency, isolated, autosomal dominant|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|congenital isolated GH deficiency type II|congenital isolated growth hormone deficiency type II|isolated growth hormone deficiency type 2|IGHD2|IGHD II|isolated Growth hormone deficiency, type 2|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|isolated growth hormone deficiency, type II|congenital IGHD type II|Growth hormone deficiency, isolated autosomal dominant|autosomal dominant isolated growth hormone deficiency Orphanet:231679|GARD:0001696|MESH:C562704|SCTID:237687003|UMLS:C0271567|ICD10:E23.0|DOID:0060872|OMIM:173100|Orphanet:631 https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2 owl:Class MONDO:0000050 biolink:NamedThing isolated congenital growth hormone deficiency tmpte7i6ely_mondo_relaxed.owl familial isolated growth hormone deficiency|congenital isolated growth hormone deficiency|non-acquired isolated growth hormone deficiency|IGHD|isolated growth hormone deficiency|ICGHD|congenital isolated GH deficiency|congenital IGHD OMIM:173100|OMIM:262650|OMIMPS:262400|MedDRA:10035083|DOID:0060870|SCTID:2109003|GARD:0012556|OMIM:300123|OMIM:307200|OMIM:262400|Orphanet:631|OMIM:612781|ICD10:E23.0 owl:Class UBERON:0035005 biolink:NamedThing preputial swelling of male tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035004 biolink:NamedThing preputial swelling tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021479 biolink:NamedThing benign neoplasm of oropharynx A benign neoplasm that involves the oropharynx. tmpte7i6ely_mondo_relaxed.owl oropharynx benign neoplasm|benign tumor of oropharynx|benign neoplasm of the oropharynx|oropharyngeal neoplasm benign|benign oropharyngeal tumor|benign oropharyngeal neoplasm|benign tumor of the oropharynx NCIT:C4604|UMLS:C0347229|SCTID:92259008|ICD9:210.6 owl:Class MONDO:0000382 biolink:NamedThing respiratory system benign neoplasm A benign neoplasm that involves the respiratory system. tmpte7i6ely_mondo_relaxed.owl respiratory system benign neoplasm DOID:0050621|UMLS:C0497556|SCTID:255166003 owl:Class MONDO:0042498 biolink:NamedThing Ruzicka-Goerz-Anton syndrome tmpte7i6ely_mondo_relaxed.owl ichthyosis deafness mental retardation skeletal anomalies|ichthyosis deafness intellectual disability skeletal anomalies|Ruzicka Goerz Anton syndrome|ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma UMLS:C2931438|MESH:C537192|GARD:0000210 owl:Class MONDO:0009343 biolink:NamedThing Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect|Hirschsprung disease polydactyly heart disease OMIM:235750|UMLS:C1856111|GARD:0002696|MESH:C565517|MESH:C538120 https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease owl:Class MONDO:0012350 biolink:NamedThing complement factor H deficiency tmpte7i6ely_mondo_relaxed.owl CFHD|Cfh deficiency|factor H deficiency|complement factor H deficiency MESH:C562875|Orphanet:2134|SCTID:234622003|Orphanet:329918|Orphanet:200421|ICD9:279.8|OMIM:609814|Orphanet:93579|Orphanet:54370|Orphanet:93571 owl:Class MONDO:0030004 biolink:NamedThing autism, susceptibility to, 20 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 20|AUTISM, SUSCEPTIBILITY TO, 20|AUTS20 OMIM:618830 owl:Class MONDO:0001714 biolink:NamedThing bejel A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. tmpte7i6ely_mondo_relaxed.owl Njovera|endemic syphilis|Treponema pallidum subsp. endemicum infectious disease|Frenga|Dichuchwa|nonvenereal syphilis|Treponema pallidum subsp. endemicum caused disease or disorder|nonvenereal endemic syphilis|Treponema pallidum subsp. endemicum disease or disorder GARD:0005905|DOID:13431|UMLS:C0004945 https://rarediseases.info.nih.gov/diseases/5905/bejel owl:Class UBERON:0006254 biolink:NamedThing ischial cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015056 biolink:NamedThing ischial endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018045 biolink:NamedThing Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. tmpte7i6ely_mondo_relaxed.owl progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia|Hoyeraal Hreidarsson syndrome OMIM:616553|ICD10:D61.0|OMIM:616353|Orphanet:3322|OMIM:613990|OMIM:305000|UMLS:C1846142|OMIM:615190|SCTID:707276009|OMIM:613989|GARD:0000346|MESH:C536068 owl:Class MONDO:0010584 biolink:NamedThing dyskeratosis congenita, X-linked X-linked form of dyskeratosis congenita. tmpte7i6ely_mondo_relaxed.owl Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|dyskeratosis congenita, X-linked|Hoyeraal Hreidarsson syndrome|DKCX|cerebellar hypoplasia with pancytopenia|dyskeratosis congenita X-linked|X-linked dyskeratosis congenita|Zinsser-Cole-Engman syndrome OMIM:305000|Orphanet:3322|SCTID:708536001|UMLS:C1846142|Orphanet:1775|GARD:0002007|DOID:0070025|NCIT:C126352 owl:Class MONDO:0019169 biolink:NamedThing pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. tmpte7i6ely_mondo_relaxed.owl PDHC|deficiency of pyruvic dehydrogenase|PDH|pyruvate decarboxylase deficiency|pyruvate dehydrogenase complex deficiency|pyruvate dehydrogenase deficiency|pyruvate dehydrogenase complex deficiency disease DOID:3649|SCTID:46683007|Orphanet:765|NCIT:C103968|ICD9:277.89|OMIM:608782|SCTID:124593001|OMIMPS:312170|GARD:0007513|Orphanet:79243|EFO:0007459|OMIM:245349|OMIM:245348|OMIM:246900|ICD10:E74.4|OMIM:312170|OMIM:614111 owl:Class MONDO:0004069 biolink:NamedThing inborn mitochondrial metabolism disorder Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. tmpte7i6ely_mondo_relaxed.owl mitochondrial metabolism disease|mitochondrial disease|mitochondrial genetic disorders Orphanet:68380|GARD:0007048|DOID:700|MESH:D028361 https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders owl:Class UBERON:0013768 biolink:NamedThing great vessel of heart tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030423 biolink:NamedThing congenital disorder of glycosylation, type 2v tmpte7i6ely_mondo_relaxed.owl CDG2V OMIM:619493 owl:Class HP:0002015 biolink:NamedThing Dysphagia Difficulty in swallowing. tmpte7i6ely_mondo_relaxed.owl Poor swallowing|Difficulty swallowing|Swallowing difficulty|Swallowing difficulties|Deglutition disorder SNOMEDCT_US:288939007|SNOMEDCT_US:40739000|UMLS:C0011168|MSH:D003680|MEDDRA:10013950 HP:0002569 human_phenotype owl:Class MONDO:0014825 biolink:NamedThing chromosome 11p13 deletion syndrome, distal tmpte7i6ely_mondo_relaxed.owl OMIM:616902|UMLS:C4311047 owl:Class UBERON:0003554 biolink:NamedThing hindbrain pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002361 biolink:NamedThing pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044796 biolink:NamedThing spindle cell nevus A nevus characterized by the presence of spindle-shaped melanocytes. tmpte7i6ely_mondo_relaxed.owl spindle cell nevus SCTID:253038006|NCIT:C66758 owl:Class MONDO:0020664 biolink:NamedThing spindle cell neoplasm A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl spindle cell neoplasm|spindle cell tumor EFO:0000705|NCIT:C27263 owl:Class MONDO:0044768 biolink:NamedThing vagus nerve paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia. tmpte7i6ely_mondo_relaxed.owl paraganglioma of the vagus nerve|vagal paraganglioma|paraganglioma of the vagal body|paraganglioma of vagus nerve|vagal body paraganglioma|vagus nerve paraganglioma|paraganglioma of vagal body NCIT:C8427|SCTID:253030004|UMLS:CN036786|EFO:1000621|GARD:0008620 owl:Class MONDO:0006239 biolink:NamedThing head and neck paraganglioma A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas. tmpte7i6ely_mondo_relaxed.owl craniocervical region paraganglioma|head and neck paraganglioma|paraganglioma of craniocervical region|paraganglioma of the head and neck|paraganglioma of head and neck NCIT:C5327|UMLS:C1333944|EFO:1000288 owl:Class MONDO:0011677 biolink:NamedThing Megarbane syndrome tmpte7i6ely_mondo_relaxed.owl Megarbane syndrome|short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation MESH:C536145|UMLS:C1847871|OMIM:606527|GARD:0009979 https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome owl:Class MONDO:0005351 biolink:NamedThing anorexia nervosa A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. tmpte7i6ely_mondo_relaxed.owl ICD10:F50.00|NCIT:C34387|OMIM:610269|ICD10:F50.0|DOID:8689|Orphanet:36297|ICD9:307.1|EFO:0004215|SCTID:56882008|MESH:D000856 owl:Class HGNC:25640 biolink:NamedThing UFSP2 tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000988 biolink:NamedThing circular A quality of a nucleotide polymer that has no terminal nucleotide residues. tmpte7i6ely_mondo_relaxed.owl zero-ended owl:Class SO:0000986 biolink:NamedThing topology_attribute The attribute of whether a nucleotide polymer is linear or circular. tmpte7i6ely_mondo_relaxed.owl topology attribute owl:Class CHEBI:33583 biolink:NamedThing noble gas molecular entity A main group molecular entity containing one or more atoms of any noble gas. tmpte7i6ely_mondo_relaxed.owl noble gas compounds|noble gas molecular entity|noble gas molecular entities owl:Class CHEBI:33579 biolink:NamedThing main group molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. tmpte7i6ely_mondo_relaxed.owl main group molecular entities|main group compounds owl:Class GO:0001817 biolink:NamedThing regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine. tmpte7i6ely_mondo_relaxed.owl regulation of cytokine biosynthesis|regulation of cytokine secretion|regulation of cytokine anabolism|regulation of cytokine biosynthetic process|regulation of cytokine synthesis|regulation of cytokine formation owl:Class MONDO:0014882 biolink:NamedThing hereditary spastic paraplegia 77 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in FARS2|spastic paraplegia 77, autosomal recessive|SPG77|hereditary spastic paraplegia type 77|autosomal recessive spastic paraplegia type 77|autosomal recessive spastic paraplegia 77|FARS2 hereditary spastic paraplegia DOID:0110822|UMLS:C4310750|OMIM:617046|ICD10:G11.4|Orphanet:466722 owl:Class MONDO:0017876 biolink:NamedThing Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. tmpte7i6ely_mondo_relaxed.owl Guanarito hemorrhagic fever Orphanet:319234|ICD10:A96.8|SCTID:359673001|UMLS:C0042470|DOID:0050196 owl:Class UBERON:0003249 biolink:NamedThing epithelium of otic placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015807 biolink:NamedThing ear epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014265 biolink:NamedThing Alzheimer disease 18 Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene. tmpte7i6ely_mondo_relaxed.owl AD18|Alzheimer disease 18, late-onset|Alzheimer disease caused by mutation in ADAM10|Alzheimer disease 18|Alzheimer's disease type 18|ADAM10 Alzheimer disease|Alzheimer disease type 18|Alzheimer's disease 18 UMLS:C3810041|OMIM:615590|DOID:0110050 owl:Class MONDO:0006073 biolink:NamedThing adenomatoid odontogenic tumor A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare. tmpte7i6ely_mondo_relaxed.owl adenomatoid odontogenic neoplasm MESH:C538229|EFO:1000072|ICDO:9300/0|NCIT:C4310 owl:Class MONDO:0021445 biolink:NamedThing benign neoplasm of oral cavity A benign neoplasm that involves the oral cavity. tmpte7i6ely_mondo_relaxed.owl oral cavity benign neoplasm|benign neoplasm of mouth|benign tumor of mouth|benign mouth neoplasm|benign tumor of the mouth|benign tumor of oral cavity|benign tumor of the oral cavity|benign oral cavity tumor|benign oral cavity neoplasm|benign mouth tumor|benign neoplasm of the oral cavity|benign neoplasm of the mouth UMLS:C0347197|NCIT:C7607|ICD9:210.4|SCTID:419645003 owl:Class MONDO:0005616 biolink:NamedThing pulmonary mucoepidermoid carcinoma A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells. tmpte7i6ely_mondo_relaxed.owl mucoepidermoid carcinoma of the lung|lung mucoepidermoid cancer|lung mucoepidermoid carcinoma ONCOTREE:LUMEC|EFO:0006740|NCIT:C45544|UMLS:C1708778|DOID:0050932 owl:Class MONDO:0027772 biolink:NamedThing lung colloid adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells. tmpte7i6ely_mondo_relaxed.owl lung colloid adenocarcinoma|lung mucinous cystadenocarcinoma|mucinous lung adenocarcinoma|lung mucinous cystic tumor of borderline malignancy NCIT:C45512|DOID:0080303|DOID:0080304|UMLS:C1708776 owl:Class UBERON:0002110 biolink:NamedThing gall bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0017672 biolink:NamedThing abdominal viscera tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007116 biolink:NamedThing hereditary neurocutaneous angioma Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl angioma hereditary neurocutaneous|spinal arterial Venous malformations with cutaneous hemangiomas|hemangiomatosis, disseminated|hereditary neurocutaneous malformation|hereditary neurocutaneous angioma|angioma, hereditary neurocutaneous Orphanet:1062|GARD:0000676|OMIM:106070|ICD10:D18.0 owl:Class HGNC:7419 biolink:NamedThing MT-CO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009725 biolink:NamedThing nemaline myopathy 2 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. tmpte7i6ely_mondo_relaxed.owl NEB nemaline myopathy|NEM2|nemaline myopathy type 2|nemaline myopathy caused by mutation in NEB|nemaline myopathy 2, autosomal recessive|nemaline myopathy 2 NCIT:C118784|MESH:C538349|OMIM:256030|UMLS:C1850569|DOID:0110928|Orphanet:607|UMLS:CN187052 owl:Class GO:1905653 biolink:NamedThing positive regulation of artery morphogenesis Any process that activates or increases the frequency, rate or extent of artery morphogenesis. tmpte7i6ely_mondo_relaxed.owl up regulation of arterial morphogenesis|positive regulation of arteriogenesis|up-regulation of artery morphogenesis|upregulation of arteriogenesis|upregulation of arterial morphogenesis|activation of arterial morphogenesis|up-regulation of arteriogenesis|up regulation of arteriogenesis|activation of artery morphogenesis|upregulation of artery morphogenesis|up regulation of artery morphogenesis|activation of arteriogenesis|up-regulation of arterial morphogenesis|positive regulation of arterial morphogenesis owl:Class MONDO:0017078 biolink:NamedThing cephalocele A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. tmpte7i6ely_mondo_relaxed.owl cranium bifidum|cephalocele|encephalocele|cephalocele (disease) cephalocele (disease) SCTID:55999004|NCIT:C84687|ICD10:Q01.2|ICD10:Q01.9|ICD10:Q01.1|ICD10:Q01.8|ICD9:742.0|Orphanet:268817|ICD10:Q01.0|HP:0011815 owl:Class MONDO:0017059 biolink:NamedThing neural tube closure defect A disease that has its basis in the disruption of neural tube closure. tmpte7i6ely_mondo_relaxed.owl disorder of neural tube closure|neural tube closure disease OMIM:601634|OMIM:301410|Orphanet:268357|OMIM:182940 owl:Class GO:0008228 biolink:NamedThing opsonization The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002252 biolink:NamedThing immune effector process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003091 biolink:NamedThing thyroid primordium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000762 biolink:NamedThing nucleated thrombocyte A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates. tmpte7i6ely_mondo_relaxed.owl Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals. cell owl:Class CL:0000226 biolink:NamedThing single nucleate cell A cell with a single nucleus. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0000291 biolink:NamedThing granulomatous amebic encephalitis Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. tmpte7i6ely_mondo_relaxed.owl Acanthamoeba encephalitis|granulomatous amebic encephalitis due to Acanthamoeba|granulomatous amoebic encephalitis|Acanthamoeba granulomatous encephalitis DOID:0050246|SCTID:230187000|UMLS:C0338428|GARD:0012651|ICD9:323.2 https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis owl:Class MONDO:0002697 biolink:NamedThing ovarian gonadoblastoma A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl ovary gonadoblastoma|gonadoblastoma|ovarian gonadoblastoma|ovarian gonadoblastoma (disease)|gonadoblastoma of ovary|GBY ovarian gonadoblastoma (disease) NCIT:C39985|SCTID:716594002|DOID:3578|EFO:1000420|HP:0000149|UMLS:C1518716|OMIM:424500|Orphanet:206484 owl:Class MONDO:0010768 biolink:NamedThing gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. tmpte7i6ely_mondo_relaxed.owl gonadoblastoma|gonad blastoma ONCOTREE:OGBL|MESH:D018238|ICD10:D39.1|DOID:3301|UMLS:C0206661|NCIT:C3754|ICDO:9073/1 owl:Class UBERON:0015049 biolink:NamedThing carpus endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015021 biolink:NamedThing forelimb endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009874 biolink:NamedThing Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). tmpte7i6ely_mondo_relaxed.owl pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities|Mendenhall syndrome|Rabson-Mendenhall syndrome Orphanet:769|ICD9:259.8|SCTID:33559001|MESH:D056731|GARD:0000226|ICD10:E13|UMLS:C0271695|NCIT:C131000|OMIM:262190 https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome owl:Class GO:1903319 biolink:NamedThing positive regulation of protein maturation Any process that activates or increases the frequency, rate or extent of protein maturation. tmpte7i6ely_mondo_relaxed.owl activation of protein maturation|up-regulation of protein maturation|up regulation of protein maturation|upregulation of protein maturation owl:Class MONDO:0019139 biolink:NamedThing acquired hemophilia Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes. tmpte7i6ely_mondo_relaxed.owl hemophilia, acquired|acquired haemophilia|acquired hemophilia Orphanet:73274|GARD:0010350|ICD10:D68.4|MedDRA:10053745|ICD10:D68.311|UMLS:C1096116|MESH:C536392 owl:Class MONDO:0012145 biolink:NamedThing macular degeneration, age-related, 3 Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene. tmpte7i6ely_mondo_relaxed.owl ARMD3|HNARMD|macular Degeneration, age-related, type 3|neuropathy, hereditary, with or without age-related macular degeneration|FBLN5 age-related macular degeneration|neuropathy, hereditary, with or without age-related macular Degeneration|macular degeneration, age-related, 3|age-related macular degeneration caused by mutation in FBLN5 MESH:C563838|UMLS:C1837187|OMIM:608895 owl:Class MONDO:0005150 biolink:NamedThing age-related macular degeneration Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. tmpte7i6ely_mondo_relaxed.owl macular degeneration, age-related|age related maculopathy|Senile macular degeneration|age-related macular degeneration|Senile macular retinal degeneration|age related Maculopathies|age related macular degeneration|ARMD|AMD OMIMPS:603075|NIFSTD:birnlex_12812|NCIT:C25416|Orphanet:279|EFO:0001365|UMLS:C0242383|DOID:10871|NCIT:C84391|SCTID:267718000|ICD9:362.50|DOID:4448|MESH:D008268|ICD10:H35.30 owl:Class MONDO:0015366 biolink:NamedThing autosomal recessive hereditary sensory and autonomic neuropathy Autosomal recessive form of hereditary sensory and autonomic neuropathy. tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy, autosomal recessive ICD10:G60.8|UMLS:CN228933|Orphanet:140477 owl:Class MONDO:0024655 biolink:NamedThing rheumatic pericarditis tmpte7i6ely_mondo_relaxed.owl rheumatic pericarditis UMLS:C0264747|SCTID:28381002 owl:Class MONDO:0006955 biolink:NamedThing rheumatic heart disease An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. tmpte7i6ely_mondo_relaxed.owl rheumatic carditis|heart disease, rheumatic|RHD|disease, rheumatic heart MESH:D012214|ICD9:398.99|SCTID:23685000|NCIT:C34882|MedDRA:10062110|EFO:1001161|ICD9:398.90|ICD10:I05.I09|DOID:0050827 owl:Class MONDO:0003698 biolink:NamedThing penis verrucous carcinoma A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present. tmpte7i6ely_mondo_relaxed.owl penis verrucous carcinoma|verrucous squamous carcinoma of penis|verrucous penile squamous carcinoma|verrucous squamous carcinoma of the penis|squamous carcinoma of penis, verrucous type|squamous carcinoma of the penis, verrucous type|verrucous carcinoma of the penis|verrucous carcinoma of penis|verrucous penile carcinoma|verrucous penile squamous cell carcinoma NCIT:C6982|ONCOTREE:VPSCC|DOID:5908|UMLS:C1336955 owl:Class CHEBI:30217 biolink:NamedThing helium atom tmpte7i6ely_mondo_relaxed.owl helio|helium|He|Helium|2He owl:Class MONDO:0012866 biolink:NamedThing hereditary spastic paraplegia 35 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|autosomal recessive spastic paraplegia 35|hereditary spastic paraplegia type 35|hereditary spastic paraplegia caused by mutation in FA2H|spastic paraplegia 35, autosomal recessive|SPG35|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|autosomal recessive spastic paraplegia type 35|hereditary spastic paraplegia 35|FA2H hereditary spastic paraplegia Orphanet:171629|ICD10:G11.4|UMLS:C3496228|DOID:0110786|MESH:C567311|SCTID:764688002|OMIM:612319 owl:Class CHEBI:28868 biolink:NamedThing fatty acid anion The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid. tmpte7i6ely_mondo_relaxed.owl Fettsaeureanion|acidos grasos anionicos|Fettsaeureanionen|fatty acid anions|anion de l'acide gras|Alkanate|acido graso anionico|Fatty acid anion|a fatty acid owl:Class MONDO:0003710 biolink:NamedThing ovarian mixed germ cell neoplasm An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl ovarian mixed germ cell neoplasm|mixed germ cell tumor|ovarian mixed germ cell tumor|mixed germ cell neoplasm of the ovary|mixed germ cell tumor of the ovary|mixed germ cell tumor of ovary|mixed germ cell neoplasm of ovary|ovary mixed germ cell tumor UMLS:C0280135|DOID:5936|NCIT:C8114|ONCOTREE:OMGCT owl:Class MONDO:0015864 biolink:NamedThing mixed germ cell tumor A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum. tmpte7i6ely_mondo_relaxed.owl combined germ cell tumor|mixed germ cell cancer|mixed germ cell tumour|mixed germ cell neoplasm|mixed germ cell tumor|combined germ cell neoplasm Orphanet:180234|DOID:3306|NCIT:C4290|ICDO:9085/3|NCIT:C9010|UMLS:C0334524 owl:Class MONDO:0002514 biolink:NamedThing hepatobiliary neoplasm A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. tmpte7i6ely_mondo_relaxed.owl hepatobiliary system tumor|hepatic and biliary neoplasms|liver and biliary neoplasm|liver and biliary system neoplasm|neoplasm of hepatobiliary system|hepatic, biliary, and gallbladder neoplasms|hepatobiliary system neoplasm|hepatobiliary system neoplasm (disease)|hepatobiliary neoplasm|tumor of hepatobiliary system|hepatobiliary tumors|hepatobiliary benign neoplasm|hepato-biliary tumor|hepatic and biliary tumors|hepatobiliary tumor|hepato-biliary neoplasm DOID:3117|EFO:0008550|UMLS:C0854196|NCIT:C8614 owl:Class CHEBI:58095 biolink:NamedThing L-phenylalanine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-phenylalanine; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl (2S)-2-ammonio-3-phenylpropanoate|phenylalanine|L-phenylalanine|(2S)-2-azaniumyl-3-phenylpropanoate owl:Class CHEBI:35238 biolink:NamedThing amino acid zwitterion The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. tmpte7i6ely_mondo_relaxed.owl amino acid zwitterion owl:Class UBERON:0010378 biolink:NamedThing mesenchyme from splanchnopleure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001159 biolink:NamedThing sigmoid colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000168 biolink:NamedThing proximal-distal subdivision of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015518 biolink:NamedThing infantile bilateral striatal necrosis Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. tmpte7i6ely_mondo_relaxed.owl striatonigral degeneration infantile|IBSN|striatal degeneration familial|infantile striatonigral degeneration|SNDI|infantile striatonigral necrosis|infantile bilateral striatal necrosis OMIM:500003|OMIM:271930|ICD10:G23.2|Orphanet:1576|SCTID:718174008|UMLS:C0795996|GARD:0005040 owl:Class MONDO:0011872 biolink:NamedThing Griscelli syndrome type 2 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. tmpte7i6ely_mondo_relaxed.owl Griscelli-Pruniéras syndrome type 2|partial albinism and immunodeficiency syndrome|PAID syndrome|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|Griscelli-Pruni��ras syndrome type 2|Griscelli syndrome, type 2|Griscelli-PruniC)ras syndrome type 2|GS2|Griscelli syndrome type 2|Griscelli syndrome with hemophagocytic syndrome|Paid syndrome|Griscelli disease type 2 UMLS:C1868679|ICD10:E70.3|Orphanet:381|DOID:0060833|MESH:C537302|GARD:0004483|OMIM:607624|NCIT:C111814|Orphanet:79477 https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 owl:Class MONDO:0015134 biolink:NamedThing constitutional neutropenia A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl infantile genetic agranulocytosis|congenital neutropenia|genetic infantile agranulocytosis|Kostmann disease|Kostmann syndrome|Kostmann neutropenia ICD10:D70|NCIT:C61242|Orphanet:101987 owl:Class HP:0000152 biolink:NamedThing Abnormality of head or neck An abnormality of head and neck. tmpte7i6ely_mondo_relaxed.owl Abnormality of head or neck|Head and neck abnormality UMLS:C4021817 human_phenotype owl:Class MONDO:0001182 biolink:NamedThing idiopathic corneal edema tmpte7i6ely_mondo_relaxed.owl ICD9:371.21|DOID:11033|SCTID:1794009|UMLS:C0155109|ICD10:H18.22 owl:Class MONDO:0006712 biolink:NamedThing corneal edema Hazy, swollen cornea. tmpte7i6ely_mondo_relaxed.owl corneal oedema MESH:D015715|ICD10:H18.20|DOID:11030|SCTID:27194006|EFO:1000879|MedDRA:10011007|NCIT:C50508|ICD9:371.2|UMLS:C0010037|ICD9:371.20 owl:Class MONDO:0017093 biolink:NamedThing unilateral focal polymicrogyria Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|Orphanet:268947 owl:Class MONDO:0017092 biolink:NamedThing unilateral polymicrogyria Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. tmpte7i6ely_mondo_relaxed.owl UMLS:C4024960|SCTID:715905006|Orphanet:268943|ICD10:Q04.3 owl:Class UBERON:0002228 biolink:NamedThing rib tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002513 biolink:NamedThing endochondral bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5003635 biolink:NamedThing pedal digit 5 plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5001466 biolink:NamedThing pedal digit plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003613 biolink:NamedThing cardiovascular system elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001928 biolink:NamedThing Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. tmpte7i6ely_mondo_relaxed.owl Blood coagulation disorder|Haemorrhagic disorders|Abnormal blood coagulation studies|Coagulation abnormalities|Coagulation abnormality MSH:D006474|SNOMEDCT_US:64779008|UMLS:C0019087|MSH:D001778|SNOMEDCT_US:362970003|UMLS:C0005779|UMLS:C1846821 human_phenotype owl:Class UBERON:0006632 biolink:NamedThing musculo-phrenic artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002057 biolink:NamedThing phrenic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018248 biolink:NamedThing intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. tmpte7i6ely_mondo_relaxed.owl Der(8)t(8;12) UMLS:CN204818|ICD10:Q87.8|Orphanet:369950 owl:Class MONDO:0010910 biolink:NamedThing enuresis, nocturnal, 1 Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder. tmpte7i6ely_mondo_relaxed.owl Bedwetting|ENUR1|enuresis, nocturnal, 1 OMIM:600631 owl:Class MONDO:0011044 biolink:NamedThing ectrodactyly of lower limbs, congenital heart defect, and micrognathia tmpte7i6ely_mondo_relaxed.owl ectrodactyly of lower limbs, congenital heart defect, and micrognathia UMLS:C1832441|OMIM:601348|MESH:C563344 owl:Class GO:0051048 biolink:NamedThing negative regulation of secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl down regulation of secretion|inhibition of secretion|downregulation of secretion|down-regulation of secretion owl:Class MONDO:0000814 biolink:NamedThing B-cell adult acute lymphocytic leukemia An acute B-lymphoblastic leukemia occurring in adults. tmpte7i6ely_mondo_relaxed.owl B cell adult acute lymphoblastic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|adult B-lymphoblastic leukemia|adult B cell acute lymphoblastic leukemia|B-cell adult ALL|adult B-cell childhood acute lymphoblastic leukemia|adult B acute lymphoblastic leukemia|adult B-cell acute lymphocytic leukemia|adult B cell ALL|B cell adult ALL|adult B cell acute lymphocytic leukemia|adult B-cell ALL|B cell adult acute lymphocytic leukemia|B-cell adult acute lymphoblastic leukemia|adult B-cell lymphocytic leukemia|adult precursor B-lymphoblastic leukemia|B acute lymphoblastic leukemia|adult B-cell acute lymphoblastic leukemia DOID:0060592|EFO:1001935|NCIT:C9143|UMLS:C0279593 owl:Class MONDO:0000872 biolink:NamedThing B-cell childhood acute lymphoblastic leukemia An acute B-lymphoblastic leukemia occurring in children. tmpte7i6ely_mondo_relaxed.owl B-cell pediatric acute lymphoblastic leukemia|B cell childhood ALL|B-cell pediatric acute lymphoid leukemia|B cell pediatric ALL|B-cell childhood ALL|B-cell childhood acute lymphoid leukemia|B cell pediatric acute lymphocytic leukemia|B-cell pediatric acute lymphogenous leukemia|childhood B-ALL|B cell childhood acute lymphoblastic leukemia|B cell childhood acute lymphocytic leukemia|B-cell pediatric ALL|B-cell childhood acute lymphogenous leukemia|B-cell pediatric acute lymphocytic leukemia|B-cell childhood acute lymphocytic leukemia|B acute lymphoblastic leukemia|childhood precursor B-lymphoblastic leukemia|B cell pediatric acute lymphoblastic leukemia|childhood B acute lymphoblastic leukemia UMLS:C0279584|EFO:1001946|NCIT:C9140|DOID:0080146 owl:Class MONDO:0001319 biolink:NamedThing bladder lateral wall cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of lateral wall of urinary bladder NCIT:C12333|DOID:11593|SCTID:188241004|UMLS:C0496828|ICD10:C67.2|ICD9:188.2 Lateral Wall of bladder owl:Class MONDO:0015806 biolink:NamedThing adult intestinal botulism A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. tmpte7i6ely_mondo_relaxed.owl intestinal botulism of adults|adult intestinal colonization botulism|adult intestinal toxemia botulism|adult intestinal toxin-mediated botulism|infant-like botulism UMLS:C4289991|NCIT:C128344|ICD10:A05.1|Orphanet:178487 owl:Class MONDO:0015805 biolink:NamedThing intestinal botulism A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). tmpte7i6ely_mondo_relaxed.owl intestinal toxemia botulism|intestinal colonization botulism|intestinal toxin-mediated botulism SCTID:409563004|DOID:0050141|Orphanet:178481|ICD10:A05.1|UMLS:C1443901 owl:Class GO:0055082 biolink:NamedThing cellular chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019725 biolink:NamedThing cellular homeostasis Any process involved in the maintenance of an internal steady state at the level of the cell. tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q11-q22 biolink:NamedThing 14q11-q22 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class GO:0045923 biolink:NamedThing positive regulation of fatty acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpte7i6ely_mondo_relaxed.owl positive regulation of fatty acid metabolism|activation of fatty acid metabolic process|up regulation of fatty acid metabolic process|up-regulation of fatty acid metabolic process|stimulation of fatty acid metabolic process|upregulation of fatty acid metabolic process owl:Class GO:0060761 biolink:NamedThing negative regulation of response to cytokine stimulus Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005613 biolink:NamedThing mesonephric adenocarcinoma An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. tmpte7i6ely_mondo_relaxed.owl malignant Mesonephroma NCIT:C4072|EFO:0006719|ICDO:9110/3 owl:Class MONDO:0002828 biolink:NamedThing Bartholin gland transitional cell carcinoma A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells. tmpte7i6ely_mondo_relaxed.owl major vestibular gland transitional cell carcinoma|Bartholin's gland transitional cell carcinoma|Bartholin gland transitional cell carcinoma NCIT:C40297|DOID:3998|UMLS:C1511053 owl:Class MONDO:0006474 biolink:NamedThing transitional cell carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. tmpte7i6ely_mondo_relaxed.owl carcinoma of urothelial cell|transitional cell carcinoma|carcinoma, urothelial, malignant|urothelial cell carcinoma|transitional epithelial cell carcinoma|transitional cell neoplasm|carcinoma of transitional epithelial cell|transitional cell tumor|transitional carcinoma EFO:1000601|UMLS:C0007138|NCIT:C2930|GARD:0007794|MESH:D002295|ICDO:8120/3|DOID:2671 https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma owl:Class MONDO:0015468 biolink:NamedThing craniosynostosis-cataract syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN226684|Orphanet:1530|ICD10:Q75.0 owl:Class GO:0016597 biolink:NamedThing amino acid binding Binding to an amino acid, organic acids containing one or more amino substituents. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043177 biolink:NamedThing organic acid binding Binding to an organic acid, any acidic compound containing carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031668 biolink:NamedThing cellular response to extracellular stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002221 biolink:NamedThing urethral urothelial papilloma Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003 tmpte7i6ely_mondo_relaxed.owl urethral urothelial papilloma|urethra urothelial papilloma NCIT:C5061|DOID:2140|UMLS:C1519826 owl:Class MONDO:0004177 biolink:NamedThing benign urethral neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the urethra|benign tumor of urethra|neoplasm. urethra|benign urethral neoplasm|benign urethra neoplasm|benign urethra tumor|benign urethral tumor|urethral benign neoplasm|benign tumor of the urethra|benign neoplasm of urethra|urethra benign neoplasm NCIT:C3619|ICD9:223.81|SCTID:92466006|NCIT:C3428|DOID:730 owl:Class UBERON:0003455 biolink:NamedThing inner renal medulla loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034997 biolink:NamedThing renal medulla loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008296 biolink:NamedThing familial porphyria cutanea tarda An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl porphyria, hepatoerythropoietic|uroporphyrinogen decarboxylase deficiency|porphyria cutanea tarda, type 2|PCT, 'familial' type|Urod deficiency|PCT|porphyria cutanea tarda type II|porphyria, Hepatocutaneous type|porphyria cutanea tarda|hereditary porphyria cutanea tarda|PCT, type 2 UMLS:C0268323|OMIM:176100|UMLS:C0162569|Orphanet:101330|Orphanet:443062|SCTID:59229005|ICD10:E80.1|Orphanet:95159 Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial owl:Class UBERON:0007687 biolink:NamedThing kidney field tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013039 biolink:NamedThing 3M syndrome 2 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. tmpte7i6ely_mondo_relaxed.owl OBSL1 3-M syndrome|three M syndrome type 2|three M syndrome 2|3-M syndrome caused by mutation in OBSL1|3M2|3M syndrome 2 UMLS:C2752041|Orphanet:2616|OMIM:612921|MESH:C567862 owl:Class MONDO:0007477 biolink:NamedThing 3-M syndrome 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. tmpte7i6ely_mondo_relaxed.owl gloomy face syndrome|Miller-McKusick-Malvaux syndrome|dwarfism with tall vertebrae|3M1|3M syndrome|dolichospondylic dysplasia|3-MSBN|Yakut short stature syndrome|three M syndrome|three-M slender-boned nanism|3-M syndrome|three M syndrome 1|gloomy face syndrome Yakut short stature syndrome, included|Dolichospondylic dysplasia|Le Merrer syndrome ICD9:756.59|ICD10:Q87.1|OMIM:614205|MESH:C535314|Orphanet:2616|SCTID:702342007|DOID:0060241|OMIMPS:273750|OMIM:273750|OMIM:612921|GARD:0005667 owl:Class MONDO:0020576 biolink:NamedThing cutaneous vasculitis Inflammation of the blood vessel wall characterized by palpable purpura. tmpte7i6ely_mondo_relaxed.owl cutaneous vasculitis UMLS:C0262988|NCIT:C112210 owl:Class HGNC:3677 biolink:NamedThing FGF20 tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C35682 biolink:NamedThing Positive Laboratory Test Result tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C36292 biolink:NamedThing Laboratory Test Result tmpte7i6ely_mondo_relaxed.owl Laboratory Test Result owl:Class MONDO:0002646 biolink:NamedThing viral laryngitis Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus. tmpte7i6ely_mondo_relaxed.owl Viruses laryngitis|Viruses caused laryngitis UMLS:C0853195|SCTID:441551009|DOID:3436|ICD9:464.00|NCIT:C27305 owl:Class MONDO:0018480 biolink:NamedThing carcinoma of esophagus, salivary gland type tmpte7i6ely_mondo_relaxed.owl esophageal carcinoma, salivary gland type UMLS:CN237468|ICD10:C15.1|ICD10:C15.5|ICD10:C15.4|ICD10:C15.0|ICD10:C15.2|ICD10:C15.8|Orphanet:418945|ICD10:C15.3 owl:Class MONDO:0019086 biolink:NamedThing carcinoma of esophagus Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). tmpte7i6ely_mondo_relaxed.owl esophageal cancer, NOS|cancer of esophagus|carcinoma of esophagus|carcinoma of oesophagus|cancer of oesophagus|esophagus carcinoma|esophageal carcinoma|carcinoma of the esophagus|cancer of the esophagus|esophageal cancer Orphanet:70482|DOID:1107|SCTID:372138000|EFO:0002916|UMLS:C0014859|UMLS:C0152018|MedDRA:10030155|UMLS:C0546837|NCIT:C3513 owl:Class MONDO:0016473 biolink:NamedThing familial rhabdoid tumor A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. tmpte7i6ely_mondo_relaxed.owl familial rhabdoid tumor|rhabdoid tumor predisposition syndrome|hereditary rhabdoid tumor|familial posterior fossa brain tumor syndrome of infancy|RTPS|rhabdoid predisposition syndrome Orphanet:231108|UMLS:C2985524|NCIT:C93268|UMLS:CN201468|OMIM:609322|ICD10:C49.9|OMIMPS:609322|OMIM:613325 owl:Class HGNC:3823 biolink:NamedThing FOXP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2865 biolink:NamedThing DHH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019344 biolink:NamedThing antisynthetase syndrome Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS). tmpte7i6ely_mondo_relaxed.owl anti-Jo1 syndrome|AS syndrome MESH:C537778|GARD:0000735|UMLS:C2609059|MedDRA:10068801|Orphanet:81|SCTID:445187004|EFO:1001982|ICD10:M35.8|ICD9:279.49 https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome owl:Class CL:1000428 biolink:NamedThing stem cell of epidermis A somatic stem cell that is part of the epidermis. tmpte7i6ely_mondo_relaxed.owl epidermal stem cell FMA:70541 cell owl:Class UBERON:0034933 biolink:NamedThing layer of smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018135 biolink:NamedThing fibrocollagenous connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011824 biolink:NamedThing fibrous connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004248 biolink:NamedThing pedal digit bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6853 biolink:NamedThing MAP3K14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002436 biolink:NamedThing nasal disorder A disease involving the nose. tmpte7i6ely_mondo_relaxed.owl disorder of nose|nose disease or disorder|disorder of the nose|nose disease|disease of nose|nasal disorder|disease or disorder of nose MESH:D009668|ICD9:478.19|UMLS:C0028432|SCTID:89488007|DOID:2825 owl:Class MONDO:0044987 biolink:NamedThing face disorder A disease or disorder that involves the face. tmpte7i6ely_mondo_relaxed.owl face disease|disease of face|face disease or disorder|disorder of face|disease or disorder of face SCTID:118930001|UMLS:C1290857 owl:Class GO:0045819 biolink:NamedThing positive regulation of glycogen catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpte7i6ely_mondo_relaxed.owl up regulation of glycogen catabolic process|up-regulation of glycogen catabolic process|positive regulation of glycogen degradation|positive regulation of glycogenolysis|activation of glycogen catabolic process|stimulation of glycogen catabolic process|positive regulation of glycogen breakdown|positive regulation of glycogen catabolism|upregulation of glycogen catabolic process owl:Class GO:0031331 biolink:NamedThing positive regulation of cellular catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl positive regulation of cellular catabolism|positive regulation of cellular breakdown|up regulation of cellular catabolic process|up-regulation of cellular catabolic process|positive regulation of cellular degradation|activation of cellular catabolic process|upregulation of cellular catabolic process|stimulation of cellular catabolic process owl:Class MONDO:0004387 biolink:NamedThing luteoma of pregnancy A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. tmpte7i6ely_mondo_relaxed.owl luteoma|leuteoma of pregnancy UMLS:C0024167|MESH:D018311|UMLS:C1517842|NCIT:C40445|DOID:7880 owl:Class MONDO:0011433 biolink:NamedThing anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome UMLS:C1858537|OMIM:604315|MESH:C565796 owl:Class UBERON:0006246 biolink:NamedThing humerus pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015777 biolink:NamedThing transitional epithelium of prostatic urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016510 biolink:NamedThing epithelium of male urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001826 biolink:NamedThing nasal cavity mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002761 biolink:NamedThing regulation of myeloid leukocyte differentiation Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006796 biolink:NamedThing phosphate-containing compound metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. tmpte7i6ely_mondo_relaxed.owl phosphate metabolism|phosphate metabolic process owl:Class MONDO:0019913 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). tmpte7i6ely_mondo_relaxed.owl Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7|UPD(7)mat ICD10:Q87.1|UMLS:CN206841|Orphanet:96182 owl:Class MONDO:0016199 biolink:NamedThing qualitative or quantitative defects of protein SERCA1 tmpte7i6ely_mondo_relaxed.owl Orphanet:209199 owl:Class MONDO:0012050 biolink:NamedThing major depressive disorder 1 tmpte7i6ely_mondo_relaxed.owl major depressive disorder 1|unipolar depression 1|MDD1|major depressive disorder type 1 UMLS:C1837929|OMIM:608520|MESH:C563919 owl:Class UBERON:0001798 biolink:NamedThing vitreous body tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033367 biolink:NamedThing developmental and epileptic encephalopathy, 58 tmpte7i6ely_mondo_relaxed.owl EIEE58|DEE58|epileptic encephalopathy, early infantile, 58|infantile epileptic encephalopathy 58 UMLS:CN757795|DOID:0080285|OMIM:617830 owl:Class UBERON:0008434 biolink:NamedThing cervical vertebral arch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003458 biolink:NamedThing neck bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018274 biolink:NamedThing GM3 synthase deficiency GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. tmpte7i6ely_mondo_relaxed.owl salt & pepper syndrome|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|salt and pepper developmental regression syndrome|Amish infantile epilepsy syndrome|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|SPDRS|GM3 synthase deficiency|ST3GAL5-CDG|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|epilepsy syndrome, infantile-onset symptomatic|salt and pepper mental retardation syndrome|lactosylceramide alpha-2,3-sialyltransferase activity disease|salt-and-pepper syndrome ICD10:E77.8|Orphanet:370933|GARD:0012059|DOID:0060470|SCTID:722762005|OMIM:609056|UMLS:CN204860|UMLS:C1836824|Orphanet:171714|Orphanet:370938 owl:Class UBERON:0000007 biolink:NamedThing pituitary gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004368 biolink:NamedThing sphenoorbital meningioma A meningioma that affects the sphenoorbital region. tmpte7i6ely_mondo_relaxed.owl UMLS:C1336040|DOID:7819|NCIT:C5285 owl:Class GO:2000828 biolink:NamedThing regulation of parathyroid hormone secretion Any process that modulates the frequency, rate or extent of parathyroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl regulation of PTH secretion|regulation of parathyrin secretion|regulation of parathormone secretion owl:Class GO:0044060 biolink:NamedThing regulation of endocrine process Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpte7i6ely_mondo_relaxed.owl regulation of endocrine system process owl:Class CHEBI:50511 biolink:NamedThing bipyridines Compounds containing a bipyridine group. tmpte7i6ely_mondo_relaxed.owl bipyridyls owl:Class CHEBI:36820 biolink:NamedThing ring assembly Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved. tmpte7i6ely_mondo_relaxed.owl ring assemblies|ring assembly owl:Class MONDO:0011478 biolink:NamedThing growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia tmpte7i6ely_mondo_relaxed.owl growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia|growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|Roca syndrome MESH:C565755|UMLS:C1858182|OMIM:604690 owl:Class UBERON:0005068 biolink:NamedThing neural rod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010267 biolink:NamedThing episodic muscle weakness, X-linked tmpte7i6ely_mondo_relaxed.owl EMWX|episodic muscle weakness, X-linked MESH:C564565|OMIM:300211|UMLS:C1846173 owl:Class MONDO:0018428 biolink:NamedThing 9q31.1q31.3 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl monosomy 9q31.1q31.3|Del(9)(q31.1q31.3) Orphanet:401923|ICD10:Q93.5|UMLS:CN226140 owl:Class MONDO:0016039 biolink:NamedThing infantile digital fibromatosis tmpte7i6ely_mondo_relaxed.owl infantile digital fibromatosis|infantile digital fibroma/fibromatosis|Reye's tumor|inclusion body fibromatosis|IDF|inclusion body fibromatosis (disease)|digital fibrous tumor of Reye|asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes|recurring digital fibrous tumor of childhood|Reye tumor inclusion body fibromatosis (disease) HP:0025197|ICD10:M72.8|NCIT:C3456|SCTID:399903008|GARD:0008487|UMLS:C1318562|ICD9:238.8|EFO:1000301|Orphanet:199267 https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis owl:Class MONDO:0032887 biolink:NamedThing neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY|Vandervore-Schot Syndrome|NEDMCMS OMIM:618730 owl:Class MONDO:0006736 biolink:NamedThing dysplasia of cervix Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane. tmpte7i6ely_mondo_relaxed.owl UMLS:C0007868|SCTID:73391008|ICD9:622.10|MESH:D002578|ICD10:N87|EFO:1000910|ICD9:622.11|MedDRA:10013957|ICD9:622.1 owl:Class MONDO:0015428 biolink:NamedThing choroidal atrophy-alopecia syndrome Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. tmpte7i6ely_mondo_relaxed.owl regional choroidal atrophy and alopecia|fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails|choroidal atrophy alopecia|Moloney syndrome UMLS:C2931026|SCTID:720850008|GARD:0003704|Orphanet:1433|MESH:C535810 owl:Class MONDO:0017363 biolink:NamedThing idiopathic chronic eosinophilic pneumonia Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss). tmpte7i6ely_mondo_relaxed.owl chronic idiopathic eosinophilic pneumonia|Carrington syndrome|chronic eosinophilic pneumonia|Carrington's pulmonary eosinophilia|eosinophilic idiopathic chronic pneumopathy|Carrington's disease|chronic eosinophilic pneumonia (CEP) MESH:C535590|Orphanet:2902|ICD10:J82|GARD:0001130 owl:Class MONDO:0018506 biolink:NamedThing mesenchymal tumor of small intestine tmpte7i6ely_mondo_relaxed.owl mesenchymal tumor of small bowel Orphanet:423798|UMLS:CN237511 owl:Class MONDO:0004251 biolink:NamedThing small intestine neoplasm A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of the small intestine|small bowel tumor|neoplasm of small bowel|tumor of the small bowel|small intestine neoplasm|tumor of the small intestine|neoplasm of the small bowel|small intestinal neoplasm|tumor of small intestine|small bowel neoplasm|neoplasm of small intestine|tumor of small bowel|small intestine tumor|small intestine neoplasm (disease) UMLS:C0345832|DOID:7505|NCIT:C4432|SCTID:126832004 owl:Class MONDO:0019012 biolink:NamedThing Carpenter syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. tmpte7i6ely_mondo_relaxed.owl type II Acrocephalopolysyndactyly|Carpenter syndrome|acrocephalopolysyndactyly type 2|acrocephalosyndactyly, type II|Carpenter 's syndrome|acrocephalopolysyndactyly type II|ACPS2 GARD:0006003|Orphanet:65759|OMIM:201000|UMLS:CN229565|SCTID:403767009|NCIT:C98873|OMIM:614976|SCTID:205813009|UMLS:C1275078|DOID:0060234|ICD10:Q87.0|OMIMPS:201000 owl:Class MONDO:0006633 biolink:NamedThing acalculous cholecystitis Inflammation of the gallbladder in the absence of gallstones. tmpte7i6ely_mondo_relaxed.owl acute acalculous cholecystitis|acute cholecystitis without calculus|cholecystitis without calculus SCTID:19968009|UMLS:C0267841|EFO:1000790|DOID:2828|NCIT:C35578|UMLS:C0267842|MESH:D042101|MedDRA:10000347 owl:Class MONDO:0002155 biolink:NamedThing cholecystitis An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. tmpte7i6ely_mondo_relaxed.owl acalculous cholecystitis|gallstone cholecystitis|acute and chronic cholecystitis|acute cholecystitis|gall bladder inflammation|inflammation of gall bladder|acute on chronic cholecystitis|chronic cholecystitis DOID:1949|SCTID:20824003|ICD10:K81.9|MESH:D002764|ICD9:575.11|ICD10:K81|GARD:0000030|ICD9:575.10|OMIM:600803|NCIT:C34465 owl:Class HP:0000032 biolink:NamedThing Abnormality of male external genitalia An abnormality of male external genitalia. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025897 human_phenotype owl:Class MONDO:0015128 biolink:NamedThing primary adrenal insufficiency A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. tmpte7i6ely_mondo_relaxed.owl MedDRA:10052381|UMLS:C3887896|NCIT:C113172|Orphanet:101958 owl:Class MONDO:0005658 biolink:NamedThing Astroviridae infectious disease Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets. tmpte7i6ely_mondo_relaxed.owl MESH:D019350|EFO:0007158|UMLS:C0376550 owl:Class MONDO:0041448 biolink:NamedThing metastasis from malignant tumor of colon tmpte7i6ely_mondo_relaxed.owl metastasis from malignant tumor of colon SCTID:314998002|UMLS:C1282500 owl:Class MONDO:0000938 biolink:NamedThing gastric leiomyoma A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT). tmpte7i6ely_mondo_relaxed.owl stomach leiomyoma|leiomyoma of stomach|gastric leiomyoma|leiomyoma of the stomach DOID:10087|NCIT:C3876|UMLS:C0238440|SCTID:276812001 owl:Class MONDO:0013832 biolink:NamedThing keratoconus 8 tmpte7i6ely_mondo_relaxed.owl KTCN8|keratoconus 8 OMIM:614628|UMLS:C3553307 owl:Class MONDO:0015486 biolink:NamedThing keratoconus A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. tmpte7i6ely_mondo_relaxed.owl conical cornea|keratoconus (disease)|noninflammatory corneal thining|keratoconus|KC|isolated keratoconus keratoconus (disease) OMIM:614622|OMIM:609271|ICD9:371.60|Orphanet:2335|OMIM:148300|OMIM:614623|HP:0000563|OMIM:608932|Orphanet:156071|MedDRA:10023353|ICD9:371.6|DOID:10126|OMIM:608586|OMIM:614629|NCIT:C26806|GARD:0006824|OMIMPS:148300|SCTID:65636009|MESH:D007640|OMIM:614628|UMLS:C0022578|ICD10:H18.6|ICD10:H18.60 owl:Class MONDO:0002036 biolink:NamedThing penile disorder A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpte7i6ely_mondo_relaxed.owl penile disorder|penile disease|penis disease or disorder|disorder of penis|penis disease|disease of penis|disease or disorder of penis NCIT:C26846|DOID:1529|ICD10:N48.8|ICD10:N48.89|ICD9:607.8|MESH:D010409|UMLS:C0030846|SCTID:33958003|ICD9:607.89|ICD9:607.9 owl:Class PO:0009062 biolink:NamedThing gynoecium A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046). tmpte7i6ely_mondo_relaxed.owl gynoecia (exact, plural)|apocarpous gynoecium (narrow)|Poaceae gynoecium (narrow)|雌蕊群 (Japanese, exact)|gynoecium of lower floret of pedicellate spikelet of tassel (narrow)|gynoecium of upper floret of pedicellate spikelet of ear (narrow)|syncarpous gynoecium (narrow)|gynoecium of lower floret of pedicellate spikelet of ear (narrow)|gynoecium of lower floret of sessile spikelet of ear (narrow)|gynoecium of tassel floret (narrow)|gynoecium of upper floret of sessile spikelet of tassel (narrow)|gynoecium of upper floret of sessile spikelet of ear (narrow)|gynoecium of lower floret of sessile spikelet of tassel (narrow)|gynoecium of upper floret of pedicellate spikelet of tassel (narrow)|pistil (broad)|Zea gynoecium (narrow)|gynaecium (exact)|gynoecium of ear floret (narrow)|ginoecio (Spanish, exact) PO_GIT:98|PO_GIT:71|PO_GIT:470 If annotating gene expression to a gynoecium with a single carpel (PO:0009030), the annotation should go on carpel. A gynoecium with two or more carpels may be either syncarpous (carpels fused) or apopcarpous (carpels free) or the carpels may be partially fused. The word pistil is used synonymously with gynoecium for a synocarpous gynoecium, and synonymously with carpel for an apocarpous gynoecium, whether it has one or more carpels. In Zea mays, gynoecia of tassel florets and of the lower florets of ear spikelets usually do not develop fully, and they are present in a rudimentary state. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), lower floret of pedicellate spikelet of ear (PO:0006353), lower floret of sessile spikelet of ear (PO:0006351), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352), tassel floret (PO:0006310), lower floret of pedicellate spikelet of tassel (PO:0006313), lower floret of sessile spikelet of tassel (PO:0006315), upper floret of pedicellate spikelet of tassel (PO:0006314), upper floret of sessile spikelet of tassel (PO:0006316). PO:0006426|PO:0006365|PO:0006403|PO:0025089|PO:0006394|PO:0006317|PO:0006391|PO:0006384|PO:0006404|PO:0006424|PO:0006423|PO:0006425|PO:0006357 plant_anatomy owl:Class PO:0025023 biolink:NamedThing collective phyllome structure A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005). tmpte7i6ely_mondo_relaxed.owl 葉的器官が集まった構造 (Japanese, exact)|whorl (narrow)|phyllome whorl (related)|floral whorl (narrow)|verticil (broad)|estructura colectiva del filoma (Spanish, exact)|cycle (broad) PO_GIT:90|PO_GIT:99 Laurel_Cooper 2010-04-28T11:04:34Z PO:0008033 plant_anatomy owl:Class MONDO:0056806 biolink:NamedThing non-small cell squamous lung carcinoma A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl non-small cell squamous lung carcinoma|non-small cell squamous lung cancer|squamous non-small cell lung carcinoma NCIT:C133254|DOID:0080521|SCTID:723301009 owl:Class MONDO:0005233 biolink:NamedThing non-small cell lung carcinoma A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. tmpte7i6ely_mondo_relaxed.owl non-small cell carcinoma of lung|non-small cell lung carcinoma (disease)|non-small cell carcinoma of the lung|non-small cell lung carcinoma|non-small cell cancer of lung|NSCLC|non-small cell cancer of the lung|NSCLC - non-small cell lung cancer|non-small cell lung cancer non-small cell lung carcinoma (disease) UMLS:C0007131|DOID:3908|EFO:0003060|ICD10:C34|HP:0030358|KEGG:05223|MESH:D002289|SCTID:254637007|NCIT:C2926|Orphanet:488201|ONCOTREE:NSCLC|OMIM:211980 owl:Class MONDO:0001501 biolink:NamedThing retroperitoneal sarcoma A sarcoma involving a retroperitoneal space. tmpte7i6ely_mondo_relaxed.owl retroperitoneal sarcoma|sarcoma of retroperitoneal space|retroperitoneal space sarcoma NCIT:C4832|DOID:12341|UMLS:C0585129|SCTID:307219002 owl:Class MONDO:0004346 biolink:NamedThing signet ring cell intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells. tmpte7i6ely_mondo_relaxed.owl signet Ring cell intrahepatic cholangiocarcinoma DOID:7733|NCIT:C41619|UMLS:C1519321 owl:Class HGNC:7154 biolink:NamedThing MME tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012427 biolink:NamedThing Loeys-Dietz syndrome 2 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. tmpte7i6ely_mondo_relaxed.owl TGFBR2 Loeys-Dietz syndrome|Loeys-Dietz syndrome caused by mutation in TGFBR2|aortic aneurysm, familial thoracic 3|Loeys-Dietz syndrome 2|LDS2|Marfan syndrome, type II, formerly|Marfan syndrome, type II|Loeys-Dietz syndrome type II|Loeys-Dietz syndrome type 2 GARD:0010586|Orphanet:284973|MESH:C537783|DOID:0070234|Orphanet:60030|NCIT:C114768|OMIM:610168|Orphanet:91387 owl:Class HGNC:21050 biolink:NamedThing CDKAL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010941 biolink:NamedThing nocturnal enuresis, 2 Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred. tmpte7i6ely_mondo_relaxed.owl enuresis, nocturnal, 2|ENUR2 UMLS:C1833268|MESH:C563439|OMIM:600808 owl:Class MONDO:0044786 biolink:NamedThing solid pseudopapillary neoplasm of the pancreas A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. tmpte7i6ely_mondo_relaxed.owl Frantz tumor|solid pseudopapillary neoplasm of the pancreas|solid pseudopapillary tumor of the pancreas ONCOTREE:SPN|NCIT:C37212 owl:Class NCBITaxon:1338369 biolink:NamedThing Dipnotetrapodomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:117571 biolink:NamedThing Euteleostomi tmpte7i6ely_mondo_relaxed.owl bony vertebrates GC_ID:1 NCBITaxon:40673 ncbi_taxonomy owl:Class UBERON:0011831 biolink:NamedThing duct of vestibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035303 biolink:NamedThing regulation of dephosphorylation Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010567 biolink:NamedThing cone dystrophy, X-linked, with tapetal-like sheen tmpte7i6ely_mondo_relaxed.owl cone dystrophy, X-linked, with tapetal-like sheen|X-linked recessive cone dystrophy with tapetal-like sheen|cone dystrophy X-linked with tapetal-like sheen OMIM:304030|MESH:C535975|GARD:0010119|UMLS:C1844775|Orphanet:1871 https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen owl:Class MONDO:0021932 biolink:NamedThing infection by Trypanosoma gambiense Trypanosomiasis caused by infection by Trypanosoma brucei gambiense. tmpte7i6ely_mondo_relaxed.owl Gambiense trypanosomiasis infection|Infection by Trypanosoma gambiense|Gambian sleeping sickness|Infection caused by Trypanosoma gambiense|Gambian trypanosomiasis|chronic sleeping sickness UMLS:C0041232|GARD:0008540|ICD9:086.3|NCIT:C35084|SCTID:75809006 owl:Class MONDO:0024610 biolink:NamedThing parasitic skin disorder Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. tmpte7i6ely_mondo_relaxed.owl skin disease, parasitic|disease, parasitic skin|parasitic skin disease|parasitic skin diseases|diseases, parasitic skin UMLS:C0037280|MESH:D012876 owl:Class HP:0005257 biolink:NamedThing Thoracic hypoplasia tmpte7i6ely_mondo_relaxed.owl Small chest|Small thorax UMLS:C1837482 HP:0001590 human_phenotype owl:Class HP:0000765 biolink:NamedThing Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). tmpte7i6ely_mondo_relaxed.owl Structural abnormality of the chest wall|Abnormality of the chest|Abnormality of the thorax UMLS:C4021797 HP:0100655 human_phenotype owl:Class MONDO:0014164 biolink:NamedThing Meckel syndrome, type 11 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. tmpte7i6ely_mondo_relaxed.owl MKS11|Meckel syndrome caused by mutation in TMEM231|TMEM231 Meckel syndrome|Meckel syndrome, type 11 UMLS:C3809352|OMIM:615397|Orphanet:564 owl:Class MONDO:0003615 biolink:NamedThing nerve compression syndrome Any nerve disorder caused by the entrapment and compression of a nerve. tmpte7i6ely_mondo_relaxed.owl peripheral nerve entrapment syndrome|entrapment neuropathy|compression neuropathy SCTID:45781009|DOID:573|NCIT:C27221|MESH:D009408 owl:Class NCBITaxon:54281 biolink:NamedThing Chrysomyini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43913 biolink:NamedThing Chrysomyinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043162 biolink:NamedThing pagon stephan syndrome tmpte7i6ely_mondo_relaxed.owl septo-optic dysplasia with digital anomalies MESH:C538100|GARD:0004195|UMLS:C2931733 owl:Class GO:0006073 biolink:NamedThing cellular glucan metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl cellular glucan metabolism owl:Class GO:0044042 biolink:NamedThing glucan metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. tmpte7i6ely_mondo_relaxed.owl glucan metabolism owl:Class MONDO:0013266 biolink:NamedThing intellectual disability, autosomal dominant 20 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant type 20|autosomal dominant mental retardation 20|MRD20|chromosome 5Q14.3 deletion syndrome, proximal|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|autosomal dominant intellectual disability 20|intellectual disability, autosomal dominant 20|intellectual disability, autosomal dominant type 20|MEF2C autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|mental retardation, autosomal dominant 20 DOID:0070050|UMLS:C3150700|Orphanet:228384|OMIM:613443 owl:Class MONDO:0013415 biolink:NamedThing chromosome 17p13.1 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 17p13.1 deletion syndrome|17p13.1 deletion syndrome DOID:0060402|UMLS:C3151069|GARD:0010996|OMIM:613776 owl:Class MONDO:0000902 biolink:NamedThing agenesis of the corpus callosum with peripheral neuropathy Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl corpus callosum agenesis-neuronopathy syndrome|peripheral neuropathy associated with agenesis of the corpus callosum|agenesis of the corpus callosum with peripheral neuropathy|Charlevoix disease|corpus callosum, agenesis of, with neuronopathy|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|HMSN/ACC|Andermann syndrome|corpus callosum agenesis neuronopathy|agenesis of corpus callosum with peripheral neuropathy|agenesis of corpus callosum with neuronopathy|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|ACCPN|agenesis of corpus callosum with polyneuropathy MESH:C536446|ICD10:G60.0|DOID:0090003|UMLS:C0795950|OMIM:218000|GARD:0001537|Orphanet:1496|SCTID:702439002|DOID:0060600 owl:Class UBERON:0001605 biolink:NamedThing ciliary muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011222 biolink:NamedThing intra-ocular muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000878 biolink:NamedThing cytomegalovirus retinitis Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. tmpte7i6ely_mondo_relaxed.owl Cytomegalovirus retinitis|Cytomegalovirus caused retinitis|Retinitis, Cytomegaloviral|cytomegalovirus retinitis|Cytomegaloviral Retinitis|CMV retinitis SCTID:22455005|DOID:0080160|GARD:0009531|UMLS:C0206178|MESH:D017726|EFO:1001302|NCIT:C50521 https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis owl:Class MONDO:0020950 biolink:NamedThing viral eye infection Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. tmpte7i6ely_mondo_relaxed.owl OCULAR INFECT VIRAL|Infection, Viral Eye|Viral Ocular Infections|Viral Eye Infection|Infection, Viral Ocular|Viral Eye Infections|Infections, Viral Ocular|Infections, Viral Eye|Viral Ocular Infection|Viral eye infection|VIRAL EYE INFECT|Ocular Infection, Viral|EYE INFECT VIRAL|Ocular Infections, Viral|viral eye infection|Eye Infections, Viral|Eye Infection, Viral SCTID:312132001|MESH:D015828|UMLS:C0015407 owl:Class MONDO:0009689 biolink:NamedThing congenital myasthenic syndrome 6 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl FIM, formerly|FIMG2|FIMG2 (formerly)|congenital myasthenic syndrome type Ia2, formerly|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|myasthenia, familial infantile, formerly|CMS-ea|Cms Ia2, formerly|congenital myasthenic syndrome 6, presynaptic|FIMG2, formerly|CHAT congenital myasthenic syndrome|Cms Ia2|myasthenic syndrome, congenital, associated with episodic apnea|myasthenic syndrome, congenital, 6, presynaptic|myasthenia, familial infantile|congenital myasthenic syndrome type 1a|presynaptic congenital myasthenic syndrome 6|CMS Ia2, formerly|congenital myasthenic syndrome type 6|CMS Ia2|CMS1A|myasthenia familial infantile|myasthenia gravis, familial infantile, 2|FIM|CMS w/episodic apnea|familial infantile myasthenia|congenital myasthenic syndrome type Ia|myasthenic syndrome congenital associated with episodic apnea|CMSEA|myasthenia gravis, familial infantile, 2, formerly|congenital myasthenic syndrome type Ia2|congenital myasthenic syndrome 6|myasthenia gravis familial infantile 2 (formerly)|congenital myasthenic syndrome with episodic apnea|familial infantile myasthenia gravis 2|CMS6|congenital presynaptic myasthenic syndrome associated with episodic apnea|congenital myasthenic syndrome caused by mutation in CHAT|CMS1A2, formerly|CMS1A2 OMIM:254210|SCTID:230670003|Orphanet:590|DOID:0110671|UMLS:C0393929|NCIT:C132292|MESH:C535759|GARD:0009689|ICD9:358.00|Orphanet:98914 https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea owl:Class MONDO:0004731 biolink:NamedThing central sleep apnea syndrome A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. tmpte7i6ely_mondo_relaxed.owl central alveolar hypoventilation syndrome|central alveolar hypoventilation|apnea, central|secondary central sleep apnea|central sleep apnea, primary|hypoventilation, central alveolar|central sleep Apneas|central sleep apnea syndrome|Breathings, central sleep-disordered|sleep Apneas, central|sleep-disordered Breathings, central|Apneas, central|central sleep apnea|alveolar hypoventilation, central|alveolar hypoventilations, central|central sleep disordered breathing|primary central sleep apnea|sleep-disordered breathing, central|breathing, central sleep-disordered|sleep disordered breathing, central|central sleep apnea, secondary|sleep apnea, lethal central|central sleep-disordered breathing|central Apneas|central sleep-disordered Breathings|apnea, sleep, central|ondine syndrome|hypoventilations, central alveolar|central apnea|Apneas, central sleep|apnea, central sleep NCIT:C27169|SCTID:9741000119101|OMIM:207720|OMIM:107640|SCTID:27405005|MESH:D020182|UMLS:C0751762|DOID:9220|UMLS:C3887547|ICD9:327.21|ICD10:G47.31 owl:Class MONDO:0005296 biolink:NamedThing sleep apnea syndrome A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. tmpte7i6ely_mondo_relaxed.owl apnea, sleep|sleep apnea, mixed central and obstructive|sleep hypopneas|sleep apnea|apnea syndrome, sleep|sleep-disordered breathing|hypersomnia with periodic respiration|mixed central and obstructive sleep apnea|SDB|breathing-related sleep disorder|sleep Apneas|breathing, sleep-disordered|sleep disordered breathing|sleep apnea syndrome|hypopneas, sleep|hypopnea, sleep|sleep hypopnea|sleep Apneas, mixed|Apneas, sleep|sleep apnea, mixed|apnea syndromes, sleep|mixed sleep apnea|mixed sleep Apneas SCTID:111489007|NCIT:C26884|EFO:0003877|SCTID:73430006|DOID:0050847|HP:0010535|NCIT:C148023|ICD10:G47.3|ICD9:780.57|MESH:D012891 owl:Class MONDO:0014745 biolink:NamedThing congenital myasthenic syndrome 19 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, type 19|CMS19|congenital myasthenic syndrome caused by mutation in COL13A1|myasthenic syndrome, congenital, 19|congenital myasthenic syndrome type 19|COL13A1 congenital myasthenic syndrome UMLS:C4225235|OMIM:616720|DOID:0110673 owl:Class CHEBI:53000 biolink:NamedThing epitope The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. tmpte7i6ely_mondo_relaxed.owl epitope role|antigenic determinant|epitope function owl:Class CHEBI:24432 biolink:NamedThing biological role A role played by the molecular entity or part thereof within a biological context. tmpte7i6ely_mondo_relaxed.owl biological function owl:Class HP:0004377 biolink:NamedThing Hematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). tmpte7i6ely_mondo_relaxed.owl Haematological neoplasm|Blood tumour|Blood tumor MSH:D019337|UMLS:C0376545|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001 peter 2008-03-18T07:44:00Z human_phenotype owl:Class HP:0001114 biolink:NamedThing Xanthelasma The presence of xanthomata in the skin of the eyelid. tmpte7i6ely_mondo_relaxed.owl Xanthelasma palpebrarum|Fatty deposits in skin around the eyes|Xanthelasma of periocular region|Xanthoma of eyelid|Fatty deposits on eyelids|Xanthelasma of eyelid|Xanthoma of periocular region|Xanthoma SNOMEDCT_US:63103006|UMLS:C4280602|UMLS:C4280601|MSH:D014973|SNOMEDCT_US:6400008|UMLS:C0302314|SNOMEDCT_US:75594004|UMLS:C0155210 human_phenotype owl:Class HP:0000991 biolink:NamedThing Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. tmpte7i6ely_mondo_relaxed.owl Yellow bumps of fatty deposits on skin|Xanthomata UMLS:C0043325|SNOMEDCT_US:63103006|MSH:D014973 human_phenotype owl:Class MONDO:0021111 biolink:NamedThing ureter neoplasm A benign or malignant neoplasm that affects the ureter. tmpte7i6ely_mondo_relaxed.owl ureteral tumor|tumor of ureter|ureteral neoplasm|neoplasm of ureter|ureter tumor|tumor of the ureter|neoplasms of the ureter|ureter neoplasm|neoplasms of ureter|ureter neoplasm (disease)|neoplasm of the ureter SCTID:126882009|EFO:0003844|NCIT:C3427|ICD9:239.5 owl:Class MONDO:0004295 biolink:NamedThing asbestos-related lung carcinoma A carcinoma arising in the lung due to exposure to asbestos. tmpte7i6ely_mondo_relaxed.owl asbestos-related lung carcinoma|asbestos-related lung cancer NCIT:C27925|DOID:7596|UMLS:C1332337 owl:Class OBO:CHR_9606-chr2p16.3 biolink:NamedThing 2p16.3 (Human) tmpte7i6ely_mondo_relaxed.owl 52600000 47500000 hg38 owl:Class MONDO:0020605 biolink:NamedThing X-linked recessive disease X-linked recessive form of disease. tmpte7i6ely_mondo_relaxed.owl DOID:0080012 owl:Class MONDO:0009931 biolink:NamedThing pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. tmpte7i6ely_mondo_relaxed.owl pulmonary atresia with intact ventricular septum|pulmonary valve atresia with intact ventricular septum MESH:C562832|ICD10:Q22.6|SCTID:253590009|OMIM:265150|NCIT:C99032|UMLS:C0344975|Orphanet:1208|GARD:0004600 owl:Class MONDO:0020291 biolink:NamedThing hypoplastic right heart syndrome Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. tmpte7i6ely_mondo_relaxed.owl right hypoplastic heart syndrome GARD:0002922|NCIT:C99053|ICD10:Q22.6|MedDRA:10050053|SCTID:268180007|UMLS:C0344963|ICD9:746.89|Orphanet:98723|MedDRA:10064962|DOID:0070315 https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome owl:Class MONDO:0012733 biolink:NamedThing autosomal recessive bestrophinopathy Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). tmpte7i6ely_mondo_relaxed.owl ARB|bestrophinopathy|retinopathy, Burgess-Black type|bestrophinopathy, autosomal recessive MESH:C567518|UMLS:C2678493|ICD10:H35.5|Orphanet:139455|UMLS:C3888198|DOID:0050662|SCTID:723828008|OMIM:611809 owl:Class MONDO:0003004 biolink:NamedThing macular degeneration Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. tmpte7i6ely_mondo_relaxed.owl macula lutea retinal degeneration|macula retinal degeneration|retinal degeneration of macula lutea|macular degeneration of retina DOID:4448|MESH:D008268|NCIT:C123330|UMLS:C0024437|SCTID:422338006|MESH:D057135 owl:Class UBERON:0010891 biolink:NamedThing pectoral complex muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007690 biolink:NamedThing aromatase excess syndrome Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. tmpte7i6ely_mondo_relaxed.owl AEXS|aromatase excess syndrome|hereditary prepubertal gynecomastia|familial hyperestrogenism|gynecomastia, familial, due to increased aromatase activity|aromatase activity, increased|gynecomastia, hereditary|increased aromatase activity GARD:12949|MESH:C000591739|UMLS:C1970109|ICD10:E30.1|OMIM:139300|DOID:0090122|Orphanet:178345|SCTID:709075008|GARD:0012494|ICD9:259.8 https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome owl:Class GO:0030812 biolink:NamedThing negative regulation of nucleotide catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpte7i6ely_mondo_relaxed.owl down regulation of nucleotide catabolic process|negative regulation of nucleotide catabolism|inhibition of nucleotide catabolic process|negative regulation of nucleotide breakdown|negative regulation of nucleotide degradation|down-regulation of nucleotide catabolic process|downregulation of nucleotide catabolic process owl:Class UBERON:0018667 biolink:NamedThing neck of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001560 biolink:NamedThing neck of organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015280 biolink:NamedThing cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. tmpte7i6ely_mondo_relaxed.owl congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure|cardiofaciocutaneous syndrome|CFC syndrome|cardio-facio-cutaneous syndrome|CFC|cardiofaciocutaneous (CFC) syndrome|cardio-facial-cutaneous syndrome DOID:0060233|GARD:0009146|ICD10:Q87.8|OMIM:615280|OMIM:615278|UMLS:C1275081|Orphanet:1340|MESH:C535579|OMIMPS:115150|OMIM:115150|NCIT:C84617|SCTID:403770008|OMIM:615279 owl:Class HP:0000301 biolink:NamedThing Abnormality of facial musculature An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpte7i6ely_mondo_relaxed.owl Facial muscle issue|Abnormality of facial muscles UMLS:C4025865 Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. human_phenotype owl:Class HP:0011799 biolink:NamedThing Abnormality of facial soft tissue tmpte7i6ely_mondo_relaxed.owl Deformity of facial soft tissue|Abnormality of facial soft tissue|Anomaly of facial soft tissue|Malformation of facial soft tissue UMLS:C4023183 peter 2012-04-23T07:27:57Z human_phenotype owl:Class HGNC:15889 biolink:NamedThing FERMT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030060 biolink:NamedThing neurodevelopmental disorder with language impairment and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|NEDLIB|neurodevelopmental disorder with language impairment and behavioral abnormalities OMIM:618917 owl:Class MONDO:0024554 biolink:NamedThing D-2-hydroxyglutaric aciduria 1 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene. tmpte7i6ely_mondo_relaxed.owl D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH|D-2-hydroxyglutaric aciduria 1|D2HGA1|D2HGDH D-2-hydroxyglutaric aciduria OMIM:600721|Orphanet:79315|DOID:0111351|UMLS:C3152055 owl:Class MONDO:0010924 biolink:NamedThing D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. tmpte7i6ely_mondo_relaxed.owl D-2-hydroxyglutaric acidemia|D2HA|D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria type 1|D2HGA|D-2-HGA OMIMPS:600721|DOID:0050575|GARD:0005661|OMIM:613657|Orphanet:79315|OMIM:600721|ICD10:E72.8|UMLS:CN233040|UMLS:C1833429|SCTID:237960000 owl:Class UBERON:0003081 biolink:NamedThing lateral plate mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006705 biolink:NamedThing Bacteroidaceae infectious disease Infections with bacteria of the family BACTEROIDACEAE. tmpte7i6ely_mondo_relaxed.owl Bacteroidaceae infection|infection, Bacteroidaceae|infections, Bacteroidaceae|Bacteroidaceae disease or disorder|Bacteroidaceae caused disease or disorder EFO:1000872|UMLS:C0085392|MESH:D016866 owl:Class MONDO:0018130 biolink:NamedThing brain dopamine-serotonin vesicular transport disease Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. tmpte7i6ely_mondo_relaxed.owl UMLS:CN204508|SCTID:717942003|UMLS:C4303546|ICD10:G25.8|Orphanet:352649 owl:Class MONDO:0014695 biolink:NamedThing glioma susceptibility 9 Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene. tmpte7i6ely_mondo_relaxed.owl GLM9|malignant glioma caused by mutation in POT1|POT1 malignant glioma|glioma susceptibility 9|glioma susceptibility type 9|malignant glioma caused by mutation in Pot1|Pot1 malignant glioma OMIM:616568|Orphanet:251627|Orphanet:251630 owl:Class MONDO:0007173 biolink:NamedThing atrial septal defect 7 Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. tmpte7i6ely_mondo_relaxed.owl atrial septal defect 7 with or without atrioventricular conduction defects|ASD with or without atrioventricular conduction defects|atrial heart septal defect caused by mutation in NKX2-5|NKX2-5 atrial heart septal defect|ASD7|atrial heart septal defect type 7|atrial septal defect 7, with or without AV conduction defects|atrial septal defect-atrioventricular conduction defects syndrome ICD10:Q21.1|Orphanet:1479|OMIM:108900|DOID:0110112|UMLS:C3502353 owl:Class MONDO:0043424 biolink:NamedThing digestive system infectious disorder A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. tmpte7i6ely_mondo_relaxed.owl gastrointestinal infection|digestive system infection|gastrointestinal system infection|infection of gastrointestinal tract SCTID:715852004|NCIT:C35503 owl:Class MONDO:0032581 biolink:NamedThing nephrotic syndrome, type 18 tmpte7i6ely_mondo_relaxed.owl NPHS18|NEPHROTIC SYNDROME, TYPE 18 DOID:0080393|OMIM:618177 owl:Class MONDO:0002350 biolink:NamedThing familial nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary nephrotic syndrome|congenital nephrotic syndrome UMLS:CN043611|DOID:2590|OMIMPS:256300|NCIT:C35337|ICD10:N04|SCTID:48796009|UMLS:C3501848 owl:Class MONDO:0006716 biolink:NamedThing coronary thrombosis Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction. tmpte7i6ely_mondo_relaxed.owl thrombotic disease of coronary vessel|coronary artery thrombosis|coronary vessel thrombotic disease MESH:D003328|MedDRA:10011108|UMLS:C0010072|EFO:1000883|SCTID:398274000|ICD10:I22|DOID:11847|ICD10:I21 owl:Class MONDO:0005010 biolink:NamedThing coronary artery disorder Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) tmpte7i6ely_mondo_relaxed.owl coronary artery disease or disorder|CHD (coronary heart disease)|CAD|disease or disorder of coronary artery|disorder of coronary artery|coronary arteriosclerosis|coronary heart disease|CHD|coronary artery disease|coronary disease|disease of coronary artery ICD9:414.0|MESH:D017202|OMIM:608318|ICD10:I20-I25|OMIM:611139|OMIM:608901|OMIM:300464|DOID:3393|ICD10:I25.1|GARD:0011944|NCIT:C35505|MESH:D003324|OMIM:610947|OMIM:614293|ICD10:I25.10|OMIM:614466|OMIM:608316|ICD10:I25|OMIM:610938|SCTID:414024009|NCIT:C26732|OMIM:608320|OMIM:607339|EFO:0001645|UMLS:C1956346|UMLS:C0151744|ICD10:K76.1|SCTID:414545008|OMIM:612030|SCTID:443502000|ICD9:414.9|ICD9:410-414.99|ICD10:I25.9 owl:Class MONDO:0014430 biolink:NamedThing intellectual disability, autosomal recessive 45 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 45|intellectual disability, autosomal recessive type 45|mental retardation, autosomal recessive type 45|FBXO31 autosomal recessive non-syndromic intellectual disability|MRT45|mental retardation, autosomal recessive 45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31 OMIM:615979|UMLS:C4014864 owl:Class MONDO:0007756 biolink:NamedThing hyperkeratosis lenticularis perstans tmpte7i6ely_mondo_relaxed.owl HLP|hyperkeratosis lenticularis perstans|Flegel disease|hyperkeratosis lenticularis perstans (disease)|hyperkeratosis lenticularis perstans of Flegel|Flegel's disease hyperkeratosis lenticularis perstans (disease) MESH:C538377|OMIM:144150|UMLS:C0263420|HP:0007570|GARD:0002824|Orphanet:409|SCTID:28488007|MedDRA:10071311 owl:Class MONDO:0009435 biolink:NamedThing hypospadias-intellectual disability, Goldblatt type syndrome Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails. tmpte7i6ely_mondo_relaxed.owl hypospadias intellectual disability syndrome|hypospadias intellectual deficit Goldblatt type|Goldblatt-Wallis syndrome|hypospadias intellectual disability Goldblatt type|hypospadias-intellectual disability syndrome|hypospadias mental retardation Goldblatt type|hypospadias-mental retardation syndrome|Goldblatt Wallis syndrome|hypospadias mental retardation syndrome Orphanet:2261|GARD:0002928|OMIM:241760|MESH:C563067|ICD10:Q87.8|SCTID:716096005 https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type owl:Class HGNC:10799 biolink:NamedThing SFTPA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006053 biolink:NamedThing renal leiomyoma A leiomyoma that involves the kidney. tmpte7i6ely_mondo_relaxed.owl leiomyoma of kidney|kidney leiomyoma EFO:1000050 owl:Class CHEBI:33704 biolink:NamedThing alpha-amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. tmpte7i6ely_mondo_relaxed.owl alpha-amino acids|alpha-amino carboxylic acids|Amino acid|Amino acids|alpha-amino acid owl:Class MONDO:0012956 biolink:NamedThing multiple sclerosis, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl MS2|multiple sclerosis, susceptibility to, 2 OMIM:612594 owl:Class MONDO:0007462 biolink:NamedThing multiple sclerosis, susceptibility to tmpte7i6ely_mondo_relaxed.owl disseminated sclerosis|MS OMIMPS:126200|OMIM:126200 owl:Class GO:0030016 biolink:NamedThing myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043455 biolink:NamedThing humoral hypercalcemia of malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. tmpte7i6ely_mondo_relaxed.owl mahc|humoral hypercalcemia of malignancy|malignant hypercalcemia|malignancy associated hypercalcemia|hypercalcemia of malignancy|hhm MESH:C562390|SCTID:47709007|UMLS:C0149911|NCIT:C3496 owl:Class MONDO:0021073 biolink:NamedThing paraneoplastic syndrome A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. tmpte7i6ely_mondo_relaxed.owl paraneoplastic syndrome MESH:D010257|SCTID:49783001|NCIT:C3311|UMLS:C0030472 owl:Class UBERON:0001568 biolink:NamedThing muscle of larynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002377 biolink:NamedThing muscle of neck tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001633 biolink:NamedThing basilar artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035307 biolink:NamedThing branch of vertebral artery tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000099 biolink:NamedThing Glomerulonephritis Inflammation of the renal glomeruli. tmpte7i6ely_mondo_relaxed.owl Glomerular nephritis UMLS:C0017658|SNOMEDCT_US:36171008|MSH:D005921 human_phenotype owl:Class HP:0000095 biolink:NamedThing Abnormal renal glomerulus morphology A structural anomaly of the glomerulus. tmpte7i6ely_mondo_relaxed.owl Abnormality of renal glomerulus morphology|Morphologic abnormality of the renal glomerulus UMLS:C4025889 Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. human_phenotype owl:Class GO:0008406 biolink:NamedThing gonad development The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones. tmpte7i6ely_mondo_relaxed.owl gonadogenesis owl:Class MONDO:0012048 biolink:NamedThing endogenous depression Depression which is considered strictly biological. tmpte7i6ely_mondo_relaxed.owl MDD|unipolar depression|clinical depression|major depressive disorder NCIT:C35094|DOID:1595|NCIT:C34532|MESH:D003866|SCTID:300706003|EFO:0003761 owl:Class MONDO:0002009 biolink:NamedThing major depressive disorder An episode of depression lasting two or more weeks without an intervening episode of mania. tmpte7i6ely_mondo_relaxed.owl unipolar depression|major depression|recurrent major depression|major depressive disorder|single major depressive episode MFOMD:0000143|NCIT:C34796|SCTID:300706003|ICD10:F32|ICD10:F33|ICD9:296.20|ICD9:296.30|SCTID:35489007|ICD9:296.3|DOID:2848|EFO:0003761|NCIT:C35094|OMIM:608516|ICD10:F33.9|DOID:1470|OMIM:608691|MESH:D003866|MESH:D003865|OMIM:608520|SCTID:370143000|DOID:1595|ICD10:F32.9|ICD9:296.2 owl:Class UBERON:0004734 biolink:NamedThing gastrula tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12786 biolink:NamedThing WNT7A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23246 biolink:NamedThing MYPN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007009 biolink:NamedThing ureterolithiasis The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins. tmpte7i6ely_mondo_relaxed.owl ureteric calculus|calculus of ureter|ureteric stone NCIT:C114696|MESH:D053039|DOID:14146|SCTID:31054009|UMLS:C0041952|ICD9:592.1|EFO:1001228 owl:Class GO:1903294 biolink:NamedThing regulation of glutamate secretion, neurotransmission Any process that modulates the frequency, rate or extent of glutamate secretion, neurotransmission. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051966 biolink:NamedThing regulation of synaptic transmission, glutamatergic Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002228 biolink:NamedThing natural killer cell mediated immunity The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. tmpte7i6ely_mondo_relaxed.owl NK cell mediated immunity owl:Class GO:0002449 biolink:NamedThing lymphocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. tmpte7i6ely_mondo_relaxed.owl cell-mediated immunity|cellular immune response owl:Class HP:0001881 biolink:NamedThing Abnormal leukocyte morphology An abnormality of leukocytes. tmpte7i6ely_mondo_relaxed.owl Abnormality of leukocytes UMLS:C0152009|SNOMEDCT_US:24827003|SNOMEDCT_US:134199001 Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. human_phenotype owl:Class MONDO:0001191 biolink:NamedThing hirudiniasis An disease or disorder caused by infection with Hirudinea. tmpte7i6ely_mondo_relaxed.owl Hirudinea caused disease or disorder|Hirudinea disease or disorder|Hirudinea infectious disease|leeches ICD10:B88.3|DOID:11079|SCTID:64351000|ICD9:134.2|UMLS:C0019575 owl:Class UBERON:0006072 biolink:NamedThing cervical region of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034878 biolink:NamedThing prechordal mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018084 biolink:NamedThing Uhl anomaly Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation. tmpte7i6ely_mondo_relaxed.owl parchment right ventricle|Uhl's anomaly MedDRA:10048951|ICD10:Q24.8|GARD:0005393|MESH:C536932|Orphanet:3403|OMIM:107970 Editor note: check xrefs owl:Class MONDO:0004994 biolink:NamedThing cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy|Cardiomyopathies ICD9:425.9|MESH:D009202|ICD9:425|NCIT:C53654|ICD9:425.4|MedDRA:10007636|GARD:0011958|Orphanet:167848|ICD10:I51.5|ICD10:I42|EFO:0000318|UMLS:C0878544|DOID:0050700|NCIT:C34830|SCTID:85898001|ICD10:I42.9 owl:Class MONDO:0011662 biolink:NamedThing pathological gambling A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. tmpte7i6ely_mondo_relaxed.owl compulsive gambling|pathological gambling|gambling, pathologic ICD9:312.31|MESH:D005715|SCTID:18085000|NCIT:C94335|DOID:12399|OMIM:606349|EFO:1001926|ICD10:F63.0 owl:Class MONDO:0003254 biolink:NamedThing cardiac granular cell neoplasm A very rare granular cell tumor that arises from the heart. tmpte7i6ely_mondo_relaxed.owl granular cell neoplasm of the heart|heart granular cell tumor|Cardiac granular cell neoplasm|granular cell neoplasm of heart|Cardiac granular cell tumor|granular cell tumor of heart|granular cell tumor of the heart UMLS:C1332845|NCIT:C5360|DOID:5044 owl:Class MONDO:0003250 biolink:NamedThing benign granular cell tumor A granular cell tumor that is confined to the site of origin, without metastatic potential. tmpte7i6ely_mondo_relaxed.owl benign granular cell myoblastoma|benign granular cell neoplasm|myoblastoma|granular cell tumor, benign|benign granular cell tumor UMLS:C0027043|DOID:5039|NCIT:C3252 owl:Class MONDO:0045024 biolink:NamedThing cancer or benign tumor Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. tmpte7i6ely_mondo_relaxed.owl neoplasm|cell proliferation disorder owl:Class MONDO:0015453 biolink:NamedThing Cogan syndrome Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. tmpte7i6ely_mondo_relaxed.owl Cogan's syndrome|diffuse interstitual keratitis|Cogan syndrome MESH:D055952|UMLS:CN199560|DOID:0060216|GARD:0001421|ICD10:H16.32|MedDRA:10056667|SCTID:405810005|ICD10:H16.3|Orphanet:1467 owl:Class MONDO:0009181 biolink:NamedThing epidermolysis bullosa simplex 5B, with muscular dystrophy A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. tmpte7i6ely_mondo_relaxed.owl MD-EBS|Epidermolysa bullosa simplex with muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|EBS-MD|limb-girdle muscular dystrophy with epidermolysis bullosa simplex|EBSMD|Epidermolysa bullosa simplex and limb girdle muscular dystrophy|MDEBS|epidermolysis bullosa simplex with muscular dystrophy|epidermolysis bullosa simplex and limb-girdle muscular dystrophy DOID:0090017|GARD:0002137|SCTID:723308003|OMIM:226670|MESH:C535955|ICD10:Q81.0|Orphanet:257|UMLS:C2931072 https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy owl:Class MONDO:0016198 biolink:NamedThing qualitative or quantitative defects of plectin tmpte7i6ely_mondo_relaxed.owl Orphanet:209196 owl:Class MONDO:0015556 biolink:NamedThing nodular urticaria pigmentosa tmpte7i6ely_mondo_relaxed.owl Orphanet:158772|ICD10:Q82.2 owl:Class NCBITaxon:583 biolink:NamedThing Proteus tmpte7i6ely_mondo_relaxed.owl Proteus|Liquidobacterium GC_ID:11|PMID:26944634 ncbi_taxonomy owl:Class NCBITaxon:1903414 biolink:NamedThing Morganellaceae tmpte7i6ely_mondo_relaxed.owl Morganellaceae Adeolu et al. 2016 PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class GO:0045787 biolink:NamedThing positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle. tmpte7i6ely_mondo_relaxed.owl positive regulation of progression through cell cycle|up-regulation of progression through cell cycle|positive regulation of cell cycle progression|activation of progression through cell cycle|stimulation of progression through cell cycle|upregulation of progression through cell cycle|up regulation of progression through cell cycle owl:Class NCBITaxon:234 biolink:NamedThing Brucella tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:28066370|PMID:8573514 ncbi_taxonomy owl:Class NCBITaxon:2826938 biolink:NamedThing Brucella/Ochrobactrum group tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:32373076 ncbi_taxonomy owl:Class MONDO:0009124 biolink:NamedThing Dubowitz syndrome Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. tmpte7i6ely_mondo_relaxed.owl Dubowitz's syndrome|intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|dwarfism-eczema-peculiar facies syndrome MESH:C535718|OMIM:223370|MedDRA:10059589|Orphanet:235|DOID:14796|ICD10:Q87.1|UMLS:C0175691|SCTID:2593002|NCIT:C125591|ICD9:742.8|GARD:0006290 https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome owl:Class MONDO:0000344 biolink:NamedThing Ross river fever A disease caused by infection with Ross River virus. tmpte7i6ely_mondo_relaxed.owl Ross River virus infectious disease|Ross River virus disease or disorder|Ross River virus caused disease or disorder|Ross River virus disease DOID:0050518|SCTID:602001|UMLS:C0035865 owl:Class MONDO:0019211 biolink:NamedThing isolated congenital anonychia Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. tmpte7i6ely_mondo_relaxed.owl nonsyndromic congenital nail disorder, 4|isolated anonychia|autosomal recessive nonsyndromic congenital nail disorder-4|congenital anonychia OMIM:206800|OMIM:614149|OMIM:107000|GARD:0012930|Orphanet:79143|ICD10:Q84.3 owl:Class MONDO:0016298 biolink:NamedThing postlingual non-syndromic genetic hearing loss Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. tmpte7i6ely_mondo_relaxed.owl isolated postlingual genetic deafness|postlingual non-syndromic genetic deafness SCTID:764097002|Orphanet:216452 owl:Class CL:1000838 biolink:NamedThing kidney proximal convoluted tubule epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001045 cell owl:Class MONDO:0006076 biolink:NamedThing adrenal gland neuroblastoma A neuroblastoma arising from the adrenal gland. tmpte7i6ely_mondo_relaxed.owl neuroblastoma of adrenal|neuroblastoma of the adrenal|neuroblastoma of the adrenal gland|adrenal gland neuroblastoma|neuroblastoma of adrenal gland|adrenal neuroblastoma NCIT:C4827|SCTID:281562007|UMLS:C0559460|DOID:5718|EFO:1000075 owl:Class MONDO:0003606 biolink:NamedThing adrenal medulla cancer A malignant neoplasm involving the adrenal medulla tmpte7i6ely_mondo_relaxed.owl cancer of adrenal medulla|adrenal medulla neoplasm|malignant neoplasm of adrenal medulla|adrenal medulla tumor|malignant adrenal medulla tumor|adrenal medulla cancer|malignant neoplasm of the adrenal medulla|malignant tumor of the adrenal medulla|malignant adrenal medulla neoplasm|malignant tumor of adrenal medulla UMLS:C0596046|ICD10:C74.1|NCIT:C4856|UMLS:C0344456|SCTID:371965009|DOID:5719|GARD:0005755|NCIT:C4396 https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer owl:Class MONDO:0044965 biolink:NamedThing abdominal and pelvic region disorder A disease or disorder that involves the abdominal segment of trunk. tmpte7i6ely_mondo_relaxed.owl abdominal segment of trunk disease|abdominal segment of trunk disease or disorder|disease of abdominal segment of trunk|disorder of abdominal segment of trunk|disease or disorder of abdominal segment of trunk 2022-04-01 UMLS:C3661988|SCTID:609618002 Reason: grouping class. Term to consider: none owl:Class MONDO:0002635 biolink:NamedThing periodontal disorder An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. tmpte7i6ely_mondo_relaxed.owl periodontium disorder|periodontium disease|disease or disorder of periodontium|disease of supporting structures of teeth|disorder of periodontium|periodontal disorder|periodontium disease or disorder|periodontal disease|disease of periodontium NCIT:C63743|ICD9:523.8|ICD10:K05.6|SCTID:2556008|DOID:3388|MESH:D010510|UMLS:C0031090 owl:Class UBERON:0001178 biolink:NamedThing visceral peritoneum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022350 biolink:NamedThing visceral serous membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003075 biolink:NamedThing neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022841 biolink:NamedThing congenital hypotrichosis milia tmpte7i6ely_mondo_relaxed.owl GARD:0001488 https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia owl:Class MONDO:0044996 biolink:NamedThing cerebral cortex disorder A disease or disorder that involves the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl cerebral cortex disease|cerebral cortex disease or disorder|disorder of cerebral cortex|disease of cerebral cortex|disease or disorder of cerebral cortex SCTID:128128003|UMLS:C1263847 owl:Class MONDO:0001540 biolink:NamedThing bagassosis An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis. tmpte7i6ely_mondo_relaxed.owl extrinsic allergic alveolitis from bagasse|sugar cane worker pneumonitis|bagasse extrinsic allergic alveolitis|bagasse workers lung NCIT:C34409|ICD9:495.1|UMLS:C0004681|ICD10:J67.1|DOID:12522|SCTID:67242002 owl:Class HP:0010514 biolink:NamedThing Hyperpituitarism Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:10649000|UMLS:C0020506|MSH:D006964 peter 2009-09-19T04:14:54Z human_phenotype owl:Class HP:0011747 biolink:NamedThing Abnormality of the anterior pituitary An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl Pituitary disease UMLS:C0032002|UMLS:C4023206|MSH:D010900|SNOMEDCT_US:399244003 peter 2012-04-22T11:17:00Z human_phenotype owl:Class MONDO:0013122 biolink:NamedThing glaucoma 3, primary congenital, D tmpte7i6ely_mondo_relaxed.owl glaucoma 3, primary congenital, type D|GLC3D|glaucoma 3, primary congenital, D OMIM:613086|MESH:C567765|UMLS:C2751316|Orphanet:98976 owl:Class MONDO:0000365 biolink:NamedThing primary congenital glaucoma Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs. tmpte7i6ely_mondo_relaxed.owl primary congenital glaucoma|primary congenital glaucoma (disease) primary congenital glaucoma (disease) NCIT:C150251|DOID:0050593|OMIM:613085|UMLS:C1533041|UMLS:C3888011|OMIM:613086|HP:0008007|SCTID:415176004 owl:Class CHEBI:24734 biolink:NamedThing hydroxyphenylalanine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004917 biolink:NamedThing internal hordeolum A hordeolum that results from infection of a meibomian gland. tmpte7i6ely_mondo_relaxed.owl infection of meibomian gland|infected meibomian cyst|infected cyst of meibomian gland|hordeolum internum|infected chalazion|internal hordeolum|hordeolum of tarsal gland|meibomian adenitis|tarsal gland hordeolum ICD9:373.12|ICD10:H00.02|UMLS:C0085690|SCTID:414521009|DOID:9908 owl:Class MONDO:0009464 biolink:NamedThing immunodeficiency with defective T-cell response to interleukin 1 tmpte7i6ely_mondo_relaxed.owl immunodeficiency with defective T-cell response to interleukin 1|Interleukin 1, defective T-cell response to|immunodeficiency with defective T-cell response to Interleukin type 1 OMIM:243110|UMLS:C1855735 owl:Class CHEBI:167559 biolink:NamedThing glycan Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. tmpte7i6ely_mondo_relaxed.owl glycans owl:Class GO:0046890 biolink:NamedThing regulation of lipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpte7i6ely_mondo_relaxed.owl regulation of lipid formation|regulation of lipid biosynthesis|regulation of lipogenesis|regulation of lipid anabolism|regulation of lipid synthesis owl:Class GO:0019216 biolink:NamedThing regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpte7i6ely_mondo_relaxed.owl regulation of lipid metabolism owl:Class NCBITaxon:6211 biolink:NamedThing Echinococcus multilocularis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6209 biolink:NamedThing Echinococcus tmpte7i6ely_mondo_relaxed.owl PMID:18180956|PMID:18338180|PMID:16352465|PMID:12964823|GC_ID:1|PMID:12377596|PMID:17156584 ncbi_taxonomy owl:Class UBERON:0002016 biolink:NamedThing pulmonary vein tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015145 biolink:NamedThing monosaccharide transmembrane transporter activity Enables the transfer of a monosaccharide from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051119 biolink:NamedThing sugar transmembrane transporter activity Enables the transfer of a sugar from one side of a membrane to the other. A sugar is any member of a class of sweet, water-soluble, crystallizable carbohydrates, which are the monosaccharides and smaller oligosaccharides. tmpte7i6ely_mondo_relaxed.owl sugar/polyol channel activity owl:Class UBERON:0011850 biolink:NamedThing acinus of salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009842 biolink:NamedThing glandular acinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006577 biolink:NamedThing maxillary sinus cholesteatoma A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. tmpte7i6ely_mondo_relaxed.owl maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus UMLS:C1334644|NCIT:C35868|EFO:1000731|DOID:867 owl:Class MONDO:0007574 biolink:NamedThing spinocerebellar ataxia type 34 Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 34|SCA34|spinocerebellar ataxia and erythrokeratodermia|spinocerebellar ataxia 34|erythrokeratodermia - ataxia|erythrokeratodermia with ataxia|Giroux Barbeau syndrome UMLS:C1851481|SCTID:719255000|OMIM:133190|DOID:0050981|Orphanet:1955|ICD10:G11.1|GARD:0000059|MESH:C535738 owl:Class GO:0043124 biolink:NamedThing negative regulation of I-kappaB kinase/NF-kappaB signaling Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. tmpte7i6ely_mondo_relaxed.owl inhibition of I-kappaB kinase/NF-kappaB cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|down regulation of I-kappaB kinase/NF-kappaB cascade|down-regulation of I-kappaB kinase/NF-kappaB cascade|downregulation of I-kappaB kinase/NF-kappaB cascade owl:Class GO:0051149 biolink:NamedThing positive regulation of muscle cell differentiation Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl upregulation of muscle cell differentiation|stimulation of muscle cell differentiation|activation of muscle cell differentiation|up regulation of muscle cell differentiation|up-regulation of muscle cell differentiation owl:Class GO:0051147 biolink:NamedThing regulation of muscle cell differentiation Any process that modulates the frequency, rate or extent of muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001236 biolink:NamedThing process quality A quality which inheres in an process. tmpte7i6ely_mondo_relaxed.owl quality of a process|relational quality of occurrent|quality of process|quality of occurrent owl:Class MONDO:0018739 biolink:NamedThing neonatal alloimmune neutropenia tmpte7i6ely_mondo_relaxed.owl Orphanet:464370|ICD10:P61.5|SCTID:14333004|UMLS:C0272176 owl:Class MONDO:0015822 biolink:NamedThing acquired neutropenia An instance of neutropenia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired neutropenia|immunologic neutropenia Orphanet:178996 owl:Class MONDO:0012519 biolink:NamedThing Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. tmpte7i6ely_mondo_relaxed.owl chromosome 16p13.3 deletion syndrome, proximal|Rubinstein-Taybi deletion syndrome|16p13.3 deletion syndrome|Rsts deletion syndrome UMLS:C1864648|GARD:0010754|ICD10:Q87.2|Orphanet:353281|Orphanet:783|OMIM:610543 https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome owl:Class MONDO:0022752 biolink:NamedThing chromosome 16p13.3 deletion syndrome tmpte7i6ely_mondo_relaxed.owl RSTS, Severe|Rubinstein-Taybi syndrome, Severe UMLS:C3502510|MESH:C566433 owl:Class UBERON:0005983 biolink:NamedThing heart layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011592 biolink:NamedThing future upper lip tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:785 biolink:NamedThing Rickettsia typhi tmpte7i6ely_mondo_relaxed.owl Dermacentroxenus typhi|Rickettsia mooseri GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:114292 biolink:NamedThing typhus group tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004463 biolink:NamedThing cellular phase chronic idiopathic myelofibrosis Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. tmpte7i6ely_mondo_relaxed.owl chronic idiopathic myelofibrosis, cellular phase|primary myelofibrosis, Prefibrotic stage|Prefibrotic/Early Primary myelofibrosis|PMFPES|chronic idiopathic myelofibrosis, Prefibrotic stage|primary myelofibrosis, Prefibrotic/early stage DOID:8106|ONCOTREE:PMFPES|NCIT:C41237|UMLS:C1516553 owl:Class MONDO:0015367 biolink:NamedThing Charlie M syndrome Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. tmpte7i6ely_mondo_relaxed.owl UMLS:C0221060|ICD10:Q87.0|GARD:0001261|UMLS:CN199458|UMLS:C4518555|Orphanet:1406|SCTID:733034007 https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome owl:Class MONDO:0005724 biolink:NamedThing cryptococcosis An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 tmpte7i6ely_mondo_relaxed.owl Busse-Buschke's disease|Cryptococcal infection|torulosis|Cryptococcus neoformans infectious disease|Cryptococcus neoformans caused disease or disorder|torula|cryptococcus neoformans infection|European cryptococcosis|Cryptococcus neoformans disease or disorder ICD10:B45.7|DOID:12053|EFO:0007229|GARD:0006218|ICD10:B45.8|MESH:D003453|ICD9:117.5|ICD10:B45.9|UMLS:C0010414|NCIT:C2967|ICD10:B45.3|ICD10:B45.2|ICD10:B45.1|ICD10:B45|Orphanet:1546|MedDRA:10011490|SCTID:42386007|ICD10:B45.0 https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis owl:Class MONDO:0012672 biolink:NamedThing cholelithiasis The presence of calculi in the gallbladder. tmpte7i6ely_mondo_relaxed.owl gallbladder disease 4|gallstones|GBD4|gallbladder disease type 4 ICD9:574.5|EFO:0004799|NCIT:C122822|DOID:10211|MESH:D002769|ICD9:574.20|OMIM:611465|ICD9:574|UMLS:C0008350|SCTID:266474003|UMLS:C0947622 owl:Class UBERON:0001465 biolink:NamedThing knee tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002266 biolink:NamedThing malt worker's lung An extrinsic allergic alveolitis caused by infection with Aspergillus. tmpte7i6ely_mondo_relaxed.owl Aspergillus caused extrinsic allergic alveolitis|Aspergillus extrinsic allergic alveolitis|alveolitis due to aspergillus clavatus|malt workers lung|malt worker lung|Malt workers' lung|Malt-workers' lung ICD9:495.4|ICD10:J67.4|UMLS:C0155888|DOID:2314|SCTID:25897000 owl:Class MONDO:0004349 biolink:NamedThing retina lymphoma A lymphoma that involves the retina. tmpte7i6ely_mondo_relaxed.owl lymphoma of the retina|lymphoma of retina|retinal lymphoma|retina lymphoma|primary retinal lymphoma DOID:774|UMLS:C0339556|NCIT:C4365|ICD9:198.4|SCTID:232075002 owl:Class GO:0032414 biolink:NamedThing positive regulation of ion transmembrane transporter activity Any process that activates or increases the activity of an ion transporter. tmpte7i6ely_mondo_relaxed.owl positive regulation of ion transporter activity|upregulation of ion transporter activity|up-regulation of ion transporter activity|activation of ion transporter activity|stimulation of ion transporter activity|up regulation of ion transporter activity owl:Class MONDO:0000212 biolink:NamedThing hypercalcemia, infantile A hypercalcemia disease that occurs between 28 days to one year of life.. tmpte7i6ely_mondo_relaxed.owl hypercalcemia, idiopathic, of infancy|autosomal recessive hypercalcemia, infantile|infantile hypercalcemia|hypercalcemia, infantile, autosomal recessive|infantile hypercalcemia disease|idiopathic infantile hypercalcemia|infantile onset hypercalcemia disease|hypercalcemia disease of infancy|autosomal recessive infantile hypercalcemia|familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, infantile NCIT:C129734|MESH:C562999|UMLS:C4329374|OMIM:616963|SCTID:276645004|UMLS:CN203398|ICD10:E83.5|OMIMPS:143880|OMIM:143880|Orphanet:300547|SCTID:34225008 owl:Class MONDO:0010998 biolink:NamedThing ALG3-CDG A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3). tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type Id|congenital disorder of glycosylation type 1d|Cdgs, type IV, formerly|CDG 1D|carbohydrate deficient glycoprotein syndrome type Id|mannosyltransferase 6 deficiency|CDG-Id|CDG Id|CDGS4 (formerly)|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|CDG1D|CDGId|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|ALG3-CDG (CDG-Id)|CDG syndrome type Id|congenital disorder of glycosylation, type Id|Cdgs, type IV|carbohydrate-deficient glycoprotein syndrome, type IV OMIM:601110|Orphanet:79321|NCIT:C126870|SCTID:720976009|GARD:0009827|DOID:0080556|MESH:C535742|UMLS:C1832736|ICD10:E77.8 owl:Class CL:0002313 biolink:NamedThing endocrine-paracrine cell of prostate gland An ecto-epithelial cell of the prostate gland that secretes hormones. tmpte7i6ely_mondo_relaxed.owl neuro-epithelial cell of prostate gland|glandular cell of prostate CALOHA:TS-1280|FMA:86774|FMA:74390 tmeehan 2010-09-14T03:01:58Z cell owl:Class MONDO:0017993 biolink:NamedThing cerebral sinovenous thrombosis A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents. tmpte7i6ely_mondo_relaxed.owl CSVT ICD10:I67.6|Orphanet:329217 owl:Class UBERON:0014636 biolink:NamedThing thoracic spinal cord gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019993 biolink:NamedThing congenital renal artery stenosis A narrowing of renal arteries that is present since birth. tmpte7i6ely_mondo_relaxed.owl congenital RAS|congenital renovascular hypoplasia ICD10:Q27.1|Orphanet:97598|SCTID:271432005 https://github.com/monarch-initiative/mondo/issues/1741 owl:Class UBERON:0001355 biolink:NamedThing deep femoral artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002229 biolink:NamedThing ovarian epithelial tumor A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. tmpte7i6ely_mondo_relaxed.owl ovary epithelial cancer|ovarian surface-epithelial stromal neoplasm|OVT|ovary epithelial neoplasm|epithelial neoplasm of ovary|epithelial tumor of ovary|ovarian epithelial tumor|ovarian surface epithelial-stromal tumor|epithelial tumor of the ovary|epithelial neoplasm of the ovary ICD9:239.5|UMLS:C0341823|NCIT:C4381|DOID:2152|SCTID:237057005|ONCOTREE:OVT owl:Class UBERON:0001556 biolink:NamedThing lower urinary tract tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002922 biolink:NamedThing positive regulation of humoral immune response Any process that activates or increases the frequency, rate, or extent of a humoral immune response. tmpte7i6ely_mondo_relaxed.owl activation of humoral immune response|upregulation of humoral immune response|stimulation of humoral immune response|up-regulation of humoral immune response|up regulation of humoral immune response owl:Class MONDO:0015867 biolink:NamedThing vaginal carcinoma A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl carcinoma of the vagina|carcinoma of vagina|cancer of vagina|cancer of the vagina|vagina cancer|vaginal carcinoma|vaginal malignant epithelial tumor|vaginal cancer, NOS|vaginal cancer|vagina carcinoma NCIT:C3917|UMLS:C0262659|ICD10:C52|DOID:0050918|Orphanet:180247 owl:Class MONDO:0007670 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome (grouping) Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. tmpte7i6ely_mondo_relaxed.owl hypotrichosis lymphedema telangiectasia syndrome OMIM:607823|GARD:0012827|Orphanet:69735|OMIM:137940 owl:Class MONDO:0014019 biolink:NamedThing dystonia 24 Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene. tmpte7i6ely_mondo_relaxed.owl dystonia type 24|DYT24|ANO3 dystonic disorder|cranio-cervical dystonia with laryngeal and upper-limb involvement|DYT-ANO3|dystonic disorder caused by mutation in ANO3|dystonia 24 UMLS:C3554374|OMIM:615034|ICD10:G24.8|Orphanet:420485|EFO:0009040|DOID:0090052 Editor note: DO classifies as purely focal owl:Class MONDO:0043237 biolink:NamedThing glossodynia Painful sensations in the tongue, including a sensation of burning. tmpte7i6ely_mondo_relaxed.owl Glossopyroses|Glossalgias|Glossodynias|painful tongue|glossopyrosis|soreness of tongue|glossalgia|glossodynia GARD:0006518|MESH:D005926|SCTID:30731004 owl:Class MONDO:0700057 biolink:NamedThing neurological pain disorder A nervous system disorder that has pain as a major feature. tmpte7i6ely_mondo_relaxed.owl neurological pain disease|neurologic pain syndrome http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0002676 biolink:NamedThing adult fibrosarcoma A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones. tmpte7i6ely_mondo_relaxed.owl fibrosarcoma|adult fibrosarcoma|fibrosarcoma (disease) of adults|adult fibrosarcoma (disease) UMLS:C0278595|DOID:3516|NCIT:C7809 owl:Class MONDO:0004953 biolink:NamedThing invasive ductal breast carcinoma The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both. tmpte7i6ely_mondo_relaxed.owl invasive ductal carcinoma of breast|breast invasive ductal carcinoma|invasive ductal breast carcinoma|ductal adenocarcinoma|invasive ductal carcinoma, No specific type|invasive ductal carcinoma of the breast|invasive ductal carcinoma, NST|infiltrating ductal adenocarcinoma|infiltrating ductal carcinoma|infiltrating ductal breast carcinoma|invasive ductal adenocarcinoma|invasive ductal carcinoma|infiltrating ductal carcinoma of the breast|infiltrating ductal carcinoma of breast SCTID:408643008|EFO:0000186|ICDO:8521/3|ICDO:8500/3|ONCOTREE:IDC|NCIT:C4017|ICD9:174.8|MESH:D018270|NCIT:C4194|DOID:3008 owl:Class MONDO:0005590 biolink:NamedThing breast ductal adenocarcinoma A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. tmpte7i6ely_mondo_relaxed.owl ductal adenocarcinoma|ductal breast carcinoma|ductal breast adenocarcinoma|mammary duct adenocarcinoma|duct carcinoma|duct adenocarcinoma|ductal carcinoma of breast|ductal carcinoma|breast ductal carcinoma|ductal carcinoma of the breast DOID:3007|EFO:0006318|NCIT:C4017|MESH:D018270 owl:Class MONDO:0032691 biolink:NamedThing Galloway-Mowat syndrome 6 tmpte7i6ely_mondo_relaxed.owl GAMOS6|GALLOWAY-MOWAT SYNDROME 6 OMIM:618347 owl:Class MONDO:0006059 biolink:NamedThing nasal cavity squamous cell carcinoma A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of nasal cavity|squamous cell carcinoma of the nasal cavity|nasal cavity squamous cell carcinoma DOID:5515|UMLS:C0280333|NCIT:C8192|EFO:1000057 owl:Class NCBITaxon:5721 biolink:NamedThing Trichomonas tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:181550 biolink:NamedThing Trichomonadidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006765 biolink:NamedThing Fusobacterium infectious disease Infections with bacteria of the genus fusobacterium. tmpte7i6ely_mondo_relaxed.owl infection due to Fusobacterium|Fusobacterium caused disease or disorder|Fusobacterium disease or disorder|infection caused by Fusobacterium EFO:1000943|SCTID:712657002|UMLS:C4039413|ICD9:041.84 owl:Class MONDO:0020653 biolink:NamedThing vaginal adenocarcinoma An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl vagina adenocarcinoma|adenocarcinoma of vagina|vaginal adenocarcinoma|adenocarcinoma of the vagina NCIT:C7981|ONCOTREE:VA owl:Class MONDO:0001704 biolink:NamedThing vaginal glandular neoplasm A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl vaginal glandular tumor|vaginal glandular neoplasm|vagina glandular cell neoplasm NCIT:C40250|UMLS:C1519921|DOID:134 owl:Class GO:0032269 biolink:NamedThing negative regulation of cellular protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl down-regulation of cellular protein metabolic process|inhibition of cellular protein metabolic process|negative regulation of cellular protein metabolism|down regulation of cellular protein metabolic process|downregulation of cellular protein metabolic process owl:Class GO:0032268 biolink:NamedThing regulation of cellular protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl regulation of cellular protein metabolism owl:Class MONDO:0014295 biolink:NamedThing hereditary spastic paraplegia 57 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in TFG|autosomal recessive spastic paraplegia type 57|spastic paraplegia due to partial TFG deficiency|hereditary spastic paraplegia type 57|TFG hereditary spastic paraplegia|spastic paraplegia 57, autosomal recessive|SPG57|autosomal recessive spastic paraplegia 57 UMLS:C4510084|UMLS:C3714897|EFO:0009017|ICD10:G11.4|Orphanet:431329|OMIM:615658|SCTID:723826007|DOID:0110809 owl:Class MONDO:0018550 biolink:NamedThing spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder tmpte7i6ely_mondo_relaxed.owl SPOAN and SPOAN-related disorder Orphanet:431320|UMLS:CN237550 owl:Class MONDO:0100054 biolink:NamedThing idiopathic anaphylaxis Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. tmpte7i6ely_mondo_relaxed.owl 2018-08-15 17:39:53+00:00 SCTID:241954008 owl:Class MONDO:0100053 biolink:NamedThing anaphylaxis An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting. tmpte7i6ely_mondo_relaxed.owl anaphylactic shock|systemic anaphylaxis 2018-08-15 17:39:34+00:00 NCIT:C107101 owl:Class MONDO:0007849 biolink:NamedThing keratitis fugax hereditaria tmpte7i6ely_mondo_relaxed.owl Keratoendotheliitis fugax hereditaria|KERATOENDOTHELIITIS fugax hereditaria|keratitis fugax hereditaria|KEFH OMIM:148200|UMLS:C1835697|MESH:C563650 owl:Class UBERON:0004375 biolink:NamedThing bone of free limb or fin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010066 biolink:NamedThing familial isolated congenital asplenia Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. tmpte7i6ely_mondo_relaxed.owl ICAS|asplenia, isolated congenital|hyposplenia, isolated congenital|asplenia, familial|splenic hypoplasia MESH:C563028|Orphanet:101351|SCTID:726708009|ICD10:Q89.0|OMIM:271400 owl:Class MONDO:0015213 biolink:NamedThing non-syndromic visceral malformation tmpte7i6ely_mondo_relaxed.owl isolated visceral malformation|nonsyndromic visceral malformation Orphanet:108971 owl:Class UBERON:0001353 biolink:NamedThing anal region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003499 biolink:NamedThing sarcomatoid squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent spindle cell component. tmpte7i6ely_mondo_relaxed.owl spindle cell (sarcomatoid) squamous cell skin carcinoma|spindle cell squamous carcinoma of the skin|spindle cell squamous cell carcinoma|spindle cell squamous carcinoma of skin|spindle cell (sarcomatoid) squamous cell carcinoma UMLS:C0349656|NCIT:C4666|SCTID:254653005|DOID:5536 owl:Class UBERON:0011974 biolink:NamedThing epiphysis of proximal phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004446 biolink:NamedThing epiphysis of phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000738 biolink:NamedThing positive regulation of stem cell differentiation Any process that activates or increases the frequency, rate or extent of stem cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001385 biolink:NamedThing cortical blindness Visual impairment due to visual cortex dysfunction. tmpte7i6ely_mondo_relaxed.owl ICD10:H47.61|UMLS:C0155320|DOID:11831|NCIT:C118707|MESH:D019575|SCTID:68574006|ICD9:377.75 owl:Class MONDO:0009601 biolink:NamedThing metaphyseal dysplasia without hypotrichosis tmpte7i6ely_mondo_relaxed.owl CHHV|MDWH|cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|metaphyseal dysplasia without hypotrichosis|cartilage-hair hypoplasia variant, skeletal manifestations only Orphanet:1838|GARD:0010622|UMLS:C1834821|MESH:C563574|OMIM:250460 https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis owl:Class MONDO:0009595 biolink:NamedThing cartilage-hair hypoplasia Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. tmpte7i6ely_mondo_relaxed.owl CHH|metaphyseal chondrodysplasia McKusick type|cartilage-hair hypoplasia|cartilage hair hypoplasia|autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, McKusick type|McKusick type metaphyseal chondrodysplasia|cartilage hair hypoplasia like syndrome|metaphyseal chondrodysplasia, Mckusick type ICD10:Q78.8|NCIT:C61245|MESH:C535916|OMIM:250250|OMIM:250460|SCTID:7720002|Orphanet:175|MedDRA:10069596|GARD:0006996|DOID:14773|UMLS:C0220748 https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia owl:Class UBERON:0004115 biolink:NamedThing blood vessel of tympanic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004337 biolink:NamedThing distal phalanx of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020275 biolink:NamedThing oculocutaneous or ocular albinism Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism. tmpte7i6ely_mondo_relaxed.owl Orphanet:98706|ICD10:E70.3 owl:Class MONDO:0043209 biolink:NamedThing albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. tmpte7i6ely_mondo_relaxed.owl albinism NCIT:C84543|GARD:0005768|SCTID:15890002|UMLS:C0001916|MESH:D000417|ICD10:E70.3 This groups multiple types, including those restricted to the eyes, the skin or both owl:Class MONDO:0020959 biolink:NamedThing Mansonella ozzardi infection An infection that is caused by the organism Mansonella ozzardi. tmpte7i6ely_mondo_relaxed.owl filariasis ozzardi|Ozzardian filariasis|mansonella ozzardi infection|Filariasis ozzardi SCTID:30865009|ICD9:125.5|NCIT:C34612|UMLS:C0016089 owl:Class MONDO:0008206 biolink:NamedThing benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. tmpte7i6ely_mondo_relaxed.owl Ouvrier Billson syndrome|paroxysmal tonic upgaze, benign childhood, with ataxia|Ouvrier-Billson syndrome GARD:0004176|ICD10:G96.8|SCTID:763127004|OMIM:168885|Orphanet:1179|UMLS:C1868576|MESH:C566817 owl:Class CHEBI:50846 biolink:NamedThing immunomodulator Biologically active substance whose activity affects or plays a role in the functioning of the immune system. tmpte7i6ely_mondo_relaxed.owl Immune factor|Immunologic factor|Biomodulator|Immunological factor|immunomodulators owl:Class MONDO:0004622 biolink:NamedThing chronic intestinal vascular insufficiency tmpte7i6ely_mondo_relaxed.owl CMI - chronic mesenteric ischaemia|chronic mesenteric ischemia SCTID:111354009|DOID:8633|ICD9:557.1|UMLS:C0311262 owl:Class MONDO:0024501 biolink:NamedThing appendix neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade|vermiform appendix neuroendocrine neoplasm|vermiform appendix NET|appendix neuroendocrine neoplasm|neuroendocrine neoplasm of vermiform appendix|vermiform appendix neuroendocrine tumor NCIT:C60709 owl:Class MONDO:0008797 biolink:NamedThing anodontia Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth. tmpte7i6ely_mondo_relaxed.owl anodontia of permanent dentition|complete absence of teeth|total anodontia of permanent and deciduous teeth|developmental absence of tooth|absence of permanent teeth|teeth, permanent, absence of MESH:D000848|OMIM:206780|DOID:13714|GARD:0005818|ICD9:520.0|MedDRA:10002583|SCTID:16958000|ICD10:K00.0|Orphanet:99797 https://rarediseases.info.nih.gov/diseases/5818/anodontia owl:Class MONDO:0018694 biolink:NamedThing isolated tracheo-esophageal fistula A congenital or acquired abnormal communication between the trachea and the esophagus. tmpte7i6ely_mondo_relaxed.owl tracheo-esophageal fistula|H-type tracheoesophageal fistula|isolated tracheoesophageal fistula|tracheoesophageal fistula NCIT:C35080|Orphanet:454750|ICD10:Q39.2 owl:Class MONDO:0015221 biolink:NamedThing non-syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated respiratory or mediastinal malformation|nonsyndromic respiratory or mediastinal malformation Orphanet:108993 owl:Class CHEBI:50267 biolink:NamedThing protective agent Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. tmpte7i6ely_mondo_relaxed.owl chemoprotectant|chemoprotective agents|protective agents|chemoprotective agent|chemoprotectants owl:Class MONDO:0100484 biolink:NamedThing TSPAN12-related vitreoretinopathy A vitreoretinopathy caused by variants in the TSPAN12 gene. tmpte7i6ely_mondo_relaxed.owl exudative vitreoretinopathy caused by mutation in TSPAN12|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy 5 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020246 biolink:NamedThing inherited vitreoretinopathy tmpte7i6ely_mondo_relaxed.owl UMLS:C1850109|Orphanet:98668|HP:0007773 owl:Class NCBITaxon:7197 biolink:NamedThing Psychodidae tmpte7i6ely_mondo_relaxed.owl sandflies and mothflies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41831 biolink:NamedThing Psychodoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018981 biolink:NamedThing benign idiopathic neonatal seizures A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable. tmpte7i6ely_mondo_relaxed.owl benign nonfamilial neonatal seizures|BINS ICD10:G40.4|UMLS:CN205419|Orphanet:64545 owl:Class UBERON:0011171 biolink:NamedThing joint connecting upper and lower jaws tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019494 biolink:NamedThing primary pediatric heart tumor Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. tmpte7i6ely_mondo_relaxed.owl Cardiac tumor of child|pediatric heart neoplasm|heart tumor of child UMLS:CN206281|ICD10:D15.1|ICD10:C38.0|Orphanet:875 owl:Class MONDO:0021209 biolink:NamedThing heart neoplasm A neoplasm (disease) that involves the heart. tmpte7i6ely_mondo_relaxed.owl tumor of the heart|Cardiac neoplasm|neoplasm of the heart|neoplasm of heart|myocardial tumors (rhabdomyomas and fibromas)|primary cardiac tumors, childhood|Cardiac tumor|heart tumor|tumor of heart|Cardiac neoplasms|heart neoplasm (disease)|Intracavitary tumors GARD:0002619|NCIT:C3081|EFO:1001339 owl:Class MONDO:0030118 biolink:NamedThing silver-russell syndrome 4 tmpte7i6ely_mondo_relaxed.owl SRS4|SILVER-RUSSELL SYNDROME 4|silver-russell syndrome 4 OMIM:618907 owl:Class MONDO:0008394 biolink:NamedThing Silver-Russell syndrome Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. tmpte7i6ely_mondo_relaxed.owl Russell Silver syndrome|Silver-Russell syndrome|Silver Russell syndrome|Silver-Russell dwarfism|Russell-Silver syndrome|SRS|Silver Russell dwarfism|Russell-Silver dwarfism OMIMPS:180860|OMIM:616489|Orphanet:813|OMIM:312780|NCIT:C85068|MESH:D056730|GARD:0004870|ICD10:Q87.1|UMLS:C0175693|MedDRA:10062282|SCTID:15069006|ICD9:759.89|DOID:14681 owl:Class MONDO:0018949 biolink:NamedThing distal myopathy Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. tmpte7i6ely_mondo_relaxed.owl distal muscular dystrophy|distal myopathy|Miyoshi muscular dystrophy OMIM:614065|Orphanet:59135|Orphanet:399086|OMIM:606768|OMIM:610099|OMIM:613319|Orphanet:599|UMLS:C0751336|SCTID:58795000|OMIM:160300|Orphanet:63273|OMIM:160500|NCIT:C84675|ICD10:G71.0|Orphanet:399096|OMIM:613318|OMIM:614321|OMIM:607569|DOID:11720|OMIM:254130 owl:Class MONDO:0009653 biolink:NamedThing mucolipidosis type IV A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. tmpte7i6ely_mondo_relaxed.owl Berman syndrome|mucolipidosis type IV|mucolipidosis 4|mucolipidosis type 4|mucolipidosis IV|ML IV|ML 4|ganglioside neuraminidase deficiency|MLIV|ganglioside sialidase deficiency|sialolipidosis|ML4 GTR:AN1124590|ICD10:E75.1|GTR:AN1148743|GTR:AN1125033|OMIM:252650|UMLS:C0238286|SCTID:111384001|UMLS:CN716584|Orphanet:578|DOID:0080490|GARD:0000094|GTR:AN1125032|NCIT:C84896 owl:Class MONDO:0012586 biolink:NamedThing coronary artery disease, autosomal dominant 2 Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. tmpte7i6ely_mondo_relaxed.owl ADCAD2|coronary artery disease, autosomal dominant 2|LRP6 coronary artery disease|coronary artery disease caused by mutation in LRP6|coronary artery disease, autosomal dominant type 2 UMLS:C1970440|MESH:C567045|OMIM:610947 owl:Class MONDO:0014546 biolink:NamedThing myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. tmpte7i6ely_mondo_relaxed.owl VMCQA|myopathy, vacuolar, with CASQ1 aggregates UMLS:C4510368|SCTID:724095006|OMIM:616231|Orphanet:88635|ICD10:G71.8|UMLS:C4015624 owl:Class NCBITaxon:1933187 biolink:NamedThing Rift Valley fever phlebovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11584 biolink:NamedThing Phlebovirus tmpte7i6ely_mondo_relaxed.owl Phleboviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006865 biolink:NamedThing necrotizing ulcerative gingivitis A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins. tmpte7i6ely_mondo_relaxed.owl Vincent's disease|acute necrotising ulcerative gingivitis [ambiguous]|Fusospirillosis|Vincent's infection|Fusospirillary gingivitis|Vincent's stomatitis|acute necrotising ulcerative gingivostomatitis|phagedenic gingivitis|Vincent's infection, any site|early acute necrotising gingivitis|acute membranous gingivitis|Vincent's angina - pharyngitis|acute necrotising ulcerative gingivostomatitis [ambiguous]|angina - Vincents|acute necrotizing ulcerative gingivitis|ANUG|acute necrotizing ulcerative gingivostomatitis|Vincent's gingivitis|trench mouth|Vincent's angina|acute necrotising ulcerative gingivitis|acute ulceromembranous gingivitis|Vincent angina ICD9:101|ICD10:A69.1|MESH:D005892|GARD:0005736|SCTID:186963008|EFO:1001058|UMLS:C0017575|DOID:13924|NCIT:C34637 owl:Class MONDO:0019885 biolink:NamedThing distal trisomy 11q Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. tmpte7i6ely_mondo_relaxed.owl distal duplication 11q|distal trisomy type 11q|telomeric duplication 11q|trisomy 11qter Orphanet:96103|ICD10:Q92.3|SCTID:764447009|MESH:C538294 owl:Class MONDO:0022173 biolink:NamedThing chromosome 11q trisomy tmpte7i6ely_mondo_relaxed.owl Duplication 11q|trisomy 11q MESH:C538297 owl:Class GO:1905153 biolink:NamedThing regulation of membrane invagination Any process that modulates the frequency, rate or extent of membrane invagination. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007194 biolink:NamedThing familial bicuspid aortic valve A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). tmpte7i6ely_mondo_relaxed.owl aortic valve disease type 1|aortic valve disease 1|familial BAV|AOVD1 OMIM:109730|ICD10:Q23.1|Orphanet:1244|Orphanet:402075|DOID:0080332|OMIM:614823|OMIMPS:109730|UMLS:C0428791 owl:Class MONDO:0011188 biolink:NamedThing arrhythmogenic right ventricular dysplasia 3 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia type 3|familial arrhythmogenic right ventricular dysplasia 3|ARVC3|arrhythmogenic right ventricular dysplasia, familial, 3|arrhythmogenic right ventricular cardiomyopathy 3|ARVD3 OMIM:602086|ICD10:I42.8|DOID:0110072|UMLS:C1865882|MESH:C566584|Orphanet:217656 owl:Class MONDO:0014905 biolink:NamedThing encephalopathy due to defective mitochondrial and peroxisomal fission 2 tmpte7i6ely_mondo_relaxed.owl MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission 2|EMPF2|Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|encephalopathy due to defective mitochondrial and peroxisomal fission type 2 Orphanet:485421|OMIM:617086|UMLS:C4310726 owl:Class MONDO:0000385 biolink:NamedThing benign digestive system neoplasm A non-metastasizing neoplasm arising from any part of the digestive system. tmpte7i6ely_mondo_relaxed.owl benign tumor of the gastrointestinal system|benign tumor of digestive system|benign digestive system tumor|benign neoplasm of the digestive system|benign gastrointestinal tumor|benign tumor of gastrointestinal system|benign gastrointestinal neoplasm|benign GI tumor|benign neoplasm of gastrointestinal system|benign tumor of the GI system|gastrointestinal system benign neoplasm|benign tumor of GI system|benign GI system neoplasm|benign GI neoplasm|benign tumor of the digestive system|alimentary part of gastrointestinal system benign neoplasm|benign GI system tumor|benign neoplasm of digestive system|benign gastrointestinal system tumor NCIT:C4787|UMLS:C0497538|DOID:0050624 owl:Class UBERON:0000439 biolink:NamedThing arachnoid trabecula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000440 biolink:NamedThing trabecula tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4893 biolink:NamedThing HGF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011871 biolink:NamedThing Niemann-Pick disease type B Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea tmpte7i6ely_mondo_relaxed.owl Niemann-PICK disease, type B|Niemann-Pick disease, type E|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression|type B Niemann-Pick disease|Niemann-Pick disease, type F|Niemann Pick disease type B ICD10:E75.241|ICD10:E75.2|GARD:0010729|SCTID:39390005|MESH:D052537|DOID:0070112|NCIT:C126866|Orphanet:99022|UMLS:C0268243|OMIM:607616|Orphanet:77293 https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b owl:Class MONDO:0001982 biolink:NamedThing Niemann-Pick disease A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. tmpte7i6ely_mondo_relaxed.owl sphingomyelinase deficiency disease|sphingomyelin lipidosis|sphingomyelin/cholesterol lipidosis|Niemann-Pick disease with cholesterol esterification block|Niemann-Pick disease, subacute juvenile form|lipoid histiocytosis (classical phosphatide)|lipoid histiocytosis|type A Niemann-Pick disease ICD10:E75.249|NCIT:C61269|MESH:D009542|GARD:0013334|SCTID:58459009|MESH:D052556|ICD10:E75.242|UMLS:C0028064|EFO:1001380|SCTID:66751000|ICD10:E75.24|DOID:14504 owl:Class MONDO:0005524 biolink:NamedThing sweat gland carcinoma A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma. tmpte7i6ely_mondo_relaxed.owl sweat gland carcinoma|carcinoma, sweat gland, malignant|carcinoma of the sweat gland|carcinoma of sweat gland|sweat gland carcinoma/apocrine eccrine carcinoma SCTID:254708001|UMLS:C1412016|ONCOTREE:AECA|NCIT:C6938|ICDO:8400/3|EFO:0005591|DOID:5667 owl:Class MONDO:0020715 biolink:NamedThing multiple system atrophy 1, susceptibility to tmpte7i6ely_mondo_relaxed.owl MSA1|multiple system atrophy 1, susceptibility to|MSA1, susceptibility to OMIM:146500 owl:Class MONDO:0006079 biolink:NamedThing ameloblastic carcinoma A rare, cytologically malignant ameloblastoma that may metastasize. tmpte7i6ely_mondo_relaxed.owl ameloblastic carcinoma|odontoma, ameloblastic, malignant NCIT:C7492|Orphanet:314422|GARD:0011855|EFO:1000078|ICD10:C41.1|UMLS:C1314678 https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma owl:Class MONDO:0006181 biolink:NamedThing digestive system carcinoma A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. tmpte7i6ely_mondo_relaxed.owl gastrointestinal system carcinoma|gastrointestinal carcinoma (disease)|carcinoma of digestive system|gastrointestinal carcinoma|digestive system carcinoma|carcinoma of the gastrointestinal system NCIT:C96963|EFO:1000218|DOID:0050922|UMLS:C0151544|HP:0002672 owl:Class MONDO:0010017 biolink:NamedThing sea-blue histiocyte syndrome A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. tmpte7i6ely_mondo_relaxed.owl inherited Lipemic splenomegaly|SEA-blue histiocyte disease|sea-blue histiocytosis|histiocytosis, Sea-blue Orphanet:158029|SCTID:37821003|OMIM:269600|UMLS:C0036489|MESH:D012618|EFO:1001170|NCIT:C85062|GARD:0008241|DOID:4423|ICD10:D76.3 owl:Class CHEBI:32761 biolink:NamedThing L-tyrosinate(2-) The L-enantiomer of tyrosinate(2-). tmpte7i6ely_mondo_relaxed.owl L-tyrosine dianion|L-tyrosinate(2-)|L-tyrosinate|(2S)-2-amino-3-(4-oxidophenyl)propanoate owl:Class CHEBI:32785 biolink:NamedThing tyrosinate(2-) tmpte7i6ely_mondo_relaxed.owl tyrosine dianion|tyrosinate(2-)|tyrosinate|2-amino-3-(4-oxidophenyl)propanoate owl:Class MONDO:0024462 biolink:NamedThing familial cutaneous melanoma An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary cutaneous melanoma (disease) OMIMPS:155600 Editor note: consider merge with parent owl:Class MONDO:0000227 biolink:NamedThing African tick-bite fever tmpte7i6ely_mondo_relaxed.owl South African tick-bite fever|Rickettsia africae spotted fever SCTID:415561000|DOID:0050035|UMLS:C1320317 owl:Class MONDO:0012465 biolink:NamedThing hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. tmpte7i6ely_mondo_relaxed.owl GPID|glycosylphosphatidylinositol biosynthesis defect 1|congenital disorder of glycosylation due to PIGM deficiency|GPI deficiency|PIGM-CDG|glycosylphosphatidylinositol deficiency OMIM:610293|Orphanet:83639|SCTID:724344004|UMLS:C4510605|GARD:0009965|UMLS:C1853205|ICD10:E88.8 https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency owl:Class MONDO:0017748 biolink:NamedThing inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation tmpte7i6ely_mondo_relaxed.owl disorder of glycosphingolipid and GPI-anchored proteins glycosylation|disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UMLS:CN227194|ICD10:E77.8|Orphanet:309515 owl:Class UBERON:0003379 biolink:NamedThing cardiac muscle of right atrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014035 biolink:NamedThing severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal dominant type 19|autosomal dominant non-syndromic intellectual disability 19|mental retardation, autosomal dominant 19|autosomal dominant mental retardation 19|intellectual disability, autosomal dominant 19|severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related intellectual disability|MRD19|mental retardation, autosomal dominant type 19|autosomal dominant intellectual disability 19 DOID:0070049|GARD:0003505|ICD10:G11.4|UMLS:C3554449|Orphanet:404473|OMIM:615075 https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome owl:Class MONDO:0006104 biolink:NamedThing benign carotid body paraganglioma A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. tmpte7i6ely_mondo_relaxed.owl chemodectoma, benign|benign chemodectoma|carotid body paraganglioma, benign|benign carotid body paraganglioma NCIT:C79950|EFO:1000108|UMLS:C2698359 owl:Class MONDO:0021679 biolink:NamedThing gram-positive bacterial infections Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. tmpte7i6ely_mondo_relaxed.owl bacterial infections, Gram Positive|Gram Positive bacterial infections|Gram-positive bacterial infection|bacterial infection, Gram-positive|infections, Gram-positive bacterial|infections, Gram Positive bacterial|infection, Gram-positive bacterial|bacterial infections, Gram-positive SCTID:371582002|ICD9:041.89|MESH:D016908 Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now owl:Class GO:0042105 biolink:NamedThing alpha-beta T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. tmpte7i6ely_mondo_relaxed.owl alpha-beta T-cell receptor complex|alpha-beta TCR complex|alpha-beta T lymphocyte receptor complex|alpha-beta T-lymphocyte receptor complex owl:Class GO:0042101 biolink:NamedThing T cell receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. tmpte7i6ely_mondo_relaxed.owl T lymphocyte receptor complex|TCR complex|TCR|T-lymphocyte receptor complex|T-cell receptor complex owl:Class MONDO:0011088 biolink:NamedThing congenital myasthenic syndrome 1A Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. tmpte7i6ely_mondo_relaxed.owl Cms IIa|congenital myasthenic syndrome type 1A|CMS1A|congenital myasthenic syndrome type IIa|myasthenic syndrome, congenital, 1A, slow-channel|congenital myasthenic syndrome caused by mutation in CHRNA1|CHRNA1 congenital myasthenic syndrome|congenital myasthenic syndrome 1A, slow-channel|Cms IIa, formerly|myasthenic syndrome, congenital, type IIa|myasthenic syndrome, congenital, type IIa, formerly|CMS IIa DOID:0110663|Orphanet:590|Orphanet:98913|OMIM:601462 owl:Class MONDO:0006638 biolink:NamedThing acute retinal necrosis syndrome Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. tmpte7i6ely_mondo_relaxed.owl acute retinal necrosis SCTID:231986000|DOID:3611|UMLS:C0035319|MESH:D015882|EFO:1000795 owl:Class MONDO:0013599 biolink:NamedThing autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. tmpte7i6ely_mondo_relaxed.owl immunodeficiency type 31C|candidiasis familial, 7|CANDF7|immunodeficiency 31C|candidiasis, familial chronic mucocutaneous, autosomal dominant|familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 7|IMD31C|candidiasis familial chronic mucocutaneous, autosomal dominant ICD10:K63.9|OMIM:614162|GARD:0012314|UMLS:C3279990|Orphanet:391487 owl:Class GO:0071396 biolink:NamedThing cellular response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009794 biolink:NamedThing orofaciodigital syndrome IV Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. tmpte7i6ely_mondo_relaxed.owl Ofd syndrome, Baraitser-Burn type|orofaciodigital syndrome with tibial dysplasia|OFD syndrome 4|orofaciodigital syndrome type IV|Mohr-Majewski syndrome|orofaciodigital syndrome 4|OFD4|Ofds 4|Ofd syndrome with tibial defects|oral-Facial-digital syndrome, type 4|Baraitser-Burn syndrome|orofaciodigital syndrome IV|orofaciodigital syndrome type 4|oral facial digital syndrome type 4|oral facial digital syndrome 4|oral-facial-digital syndrome type 4 MESH:C537133|DOID:0060374|ICD10:Q87.0|Orphanet:2753|GARD:0000816|UMLS:C0406727|OMIM:258860|SCTID:239031000 https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 owl:Class OBO:CHR_9606-chr2q2 biolink:NamedThing 2q2 (Human) tmpte7i6ely_mondo_relaxed.owl 168900000 129100000 hg38 owl:Class GO:0042398 biolink:NamedThing cellular modified amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents. tmpte7i6ely_mondo_relaxed.owl cellular amino acid derivative biosynthetic process|cellular amino acid derivative biosynthesis|amino acid derivative biosynthetic process|cellular amino acid derivative synthesis|cellular amino acid derivative anabolism|cellular modified amino acid synthesis|cellular modified amino acid formation|cellular amino acid derivative formation|cellular modified amino acid anabolism|cellular modified amino acid biosynthesis owl:Class CHEBI:25513 biolink:NamedThing neutral glycosphingolipid Any glycosphingolipid containing unsubstituted glycosyl moieties. tmpte7i6ely_mondo_relaxed.owl neutral glycosphingolipids owl:Class CHEBI:24402 biolink:NamedThing glycosphingolipid A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. tmpte7i6ely_mondo_relaxed.owl glycosphingolipids owl:Class MONDO:0009273 biolink:NamedThing hydatidiform mole, recurrent, 1 Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene. tmpte7i6ely_mondo_relaxed.owl hydatidiform Mole, complete|HYDM1|complete hydatidiform mole caused by mutation in NLRP7|hydatidiform mole, recurrent, 1|gestational trophoblastic disease|hydatidiform Mole, recurrent, type 1|NLRP7 complete hydatidiform mole|hydatidiform mole|hydatidiform MOLE, recurrent, 1 UMLS:C3463897|Orphanet:254688|OMIM:231090|Orphanet:99927 owl:Class MONDO:0016785 biolink:NamedThing complete hydatidiform mole Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. tmpte7i6ely_mondo_relaxed.owl complete Mole|complete molar pregnancy|complete hydatid Mole|classical hydatidiform Mole UMLS:C0678213|SCTID:237249000|ONCOTREE:CHM|Orphanet:254688|OMIM:614293|OMIM:231090|ICD10:O01.0|NCIT:C4871 owl:Class MONDO:0030523 biolink:NamedThing oocyte maturation defect 12 tmpte7i6ely_mondo_relaxed.owl OOMD12 OMIM:619697 owl:Class MONDO:0014769 biolink:NamedThing inherited oocyte maturation defect tmpte7i6ely_mondo_relaxed.owl OOMD|oocyte maturation defect OMIMPS:615774|UMLS:CN238505|OMIM:616780|UMLS:C4225210 owl:Class CL:0000214 biolink:NamedThing synovial cell A meso-epithelial cell that lies between the cartilaginous fibers in the synovial membrane of a joint and produces hyaluronic acid. tmpte7i6ely_mondo_relaxed.owl hyaluronic acid secreting cell|synoviocyte FMA:66786|BTO:0003652|CALOHA:TS-0995 cell owl:Class CL:0000153 biolink:NamedThing glycosaminoglycan secreting cell A cell that secretes glycosaminoglycans. tmpte7i6ely_mondo_relaxed.owl hyaluronic acid secreting cell|GAG secreting cell cell owl:Class MONDO:0003028 biolink:NamedThing thyroid sarcoma A malignant soft tissue neoplasm primarily involving the thyroid gland. tmpte7i6ely_mondo_relaxed.owl sarcoma of the thyroid|sarcoma of thyroid gland|thyroid sarcoma|sarcoma of thyroid|thyroid gland sarcoma|sarcoma of the thyroid gland NCIT:C6041|DOID:4515|UMLS:C1336756|EFO:1001971 owl:Class MONDO:0008276 biolink:NamedThing generalized juvenile polyposis/juvenile polyposis coli tmpte7i6ely_mondo_relaxed.owl juvenile polyposis of stomach|polyposis, juvenile intestinal|generalized juvenile polyposis/juvenile polyposis coli|juvenile intestinal polyposis|jPS|polyposis, familial, of Entire gastrointestinal tract|juvenile polyposis syndrome|juvenile polyposis coli UMLS:CN204230|ICD10:D12.6|DOID:0050787|OMIM:174900|Orphanet:329971|Orphanet:2929 owl:Class MONDO:0004603 biolink:NamedThing collagenopathy tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007662 biolink:NamedThing anterior segment dysgenesis 4 Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene. tmpte7i6ely_mondo_relaxed.owl ASGD4|iris hypoplasia with early-onset glaucoma, autosomal dominant|iridogoniodysgenesis, type 2|IRID2|iridogoniodysgenesis caused by mutation in PITX2|iridogoniodysgenesis syndrome|iridogoniodysgenesis type 2|PITX2 iridogoniodysgenesis|anterior segment dysgenesis 4 Orphanet:91483|DOID:0080609|UMLS:C1842031|GARD:0003026|OMIM:137600 owl:Class MONDO:0019628 biolink:NamedThing Rieger anomaly Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly. tmpte7i6ely_mondo_relaxed.owl OMIM:601631|Orphanet:91483|ICD10:Q13.8|OMIM:137600|MedDRA:10059198|OMIM:602482 owl:Class GO:0072527 biolink:NamedThing pyrimidine-containing compound metabolic process The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof. tmpte7i6ely_mondo_relaxed.owl pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process owl:Class NCBITaxon:6282 biolink:NamedThing Onchocerca volvulus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6281 biolink:NamedThing Onchocerca tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014599 biolink:NamedThing intellectual disability, autosomal dominant 34 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 34|autosomal dominant non-syndromic intellectual disability 34|mental retardation, autosomal dominant 34|COL4A3BP autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 34|autosomal dominant intellectual disability 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|intellectual disability, autosomal dominant type 34|mental retardation, autosomal dominant type 34|MRD34 OMIM:616351|DOID:0070064 owl:Class CL:1001590 biolink:NamedThing epididymis glandular cell Glandular cell of epididymal epithelium. tmpte7i6ely_mondo_relaxed.owl epididymal glandular cell|epididymis glandular cells CALOHA:TS-1276 owl:Class UBERON:0035471 biolink:NamedThing posterior surface of kidney tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014294 biolink:NamedThing chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). tmpte7i6ely_mondo_relaxed.owl chromosome 15q11.2 deletion|Del(15)(q11.2)|15q11.2 BP1-BP2 microdeletion syndrome|chromosome 15q11.2 deletion syndrome|15q11.2 microdeletion syndrome|monosomy 15q11.2|15q11.2 microdeletion|chromosome 15q11.2 microdeletion Orphanet:261183|ICD10:Q93.5|OMIM:615656|GARD:0010525|UMLS:C3180937|DOID:0060393 owl:Class MONDO:0005814 biolink:NamedThing intestinal cancer A malignant neoplasm involving the intestine tmpte7i6ely_mondo_relaxed.owl malignant intestinal tumors|intestine cancer|intestinal tumors, malignant|cancer of intestine|malignant neoplasm of the intestine|intestinal cancer|intestinal neoplasms, malignant|malignant intestinal neoplasm|malignant intestine tumor|malignant intestinal neoplasms|bowel cancer|cancer of the intestine|malignant intestinal tumor|malignant neoplasm of intestine|malignant tumor of intestine|malignant intestine neoplasm|malignant tumor of the intestine MESH:D007414|SCTID:363508008|ICD10:C26.0|DOID:10155|EFO:0007330|ICD9:159.0|UMLS:C0346627|NCIT:C4572 owl:Class MONDO:0013572 biolink:NamedThing Keppen-Lubinsky syndrome tmpte7i6ely_mondo_relaxed.owl generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|Keppen-Lubinsky syndrome|KPLBS|KEPPEN-Lubinsky syndrome OMIM:614098|UMLS:C3279800|Orphanet:435628|ICD10:E88.1 owl:Class MONDO:0017881 biolink:NamedThing Kyasanur forest disease Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. tmpte7i6ely_mondo_relaxed.owl Kyasanur forest disease virus disease or disorder|monkey disease|KFD virus|monkey fever|Kyasanur forest disease virus infectious disease|Kyasanur forest disease virus caused disease or disorder|KFD|Kyasanur hemorrhagic fever ICD10:A98.2|Orphanet:319254|GARD:0008257|ICD9:065.2|MESH:D007733|SCTID:23097003|MedDRA:10023505|DOID:11320|UMLS:C0022810 https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease owl:Class MONDO:0021353 biolink:NamedThing tumor of uterus A neoplasm (disease) that involves the uterus. tmpte7i6ely_mondo_relaxed.owl neoplasm of the uterus|uterus tumor|uterine tumor|uterine neoplasms|tumor of the uterus|uterus neoplasm (disease)|uterus neoplasm|neoplasm of uterus|tumor of uterus|uterine neoplasm ONCOTREE:UTERUS|EFO:0003859|SCTID:126908007|ICD9:239.5|NCIT:C3435 owl:Class UBERON:0003354 biolink:NamedThing epithelium of rectum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016885 biolink:NamedThing epithelium of terminal part of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051957 biolink:NamedThing positive regulation of amino acid transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl stimulation of amino acid transport|upregulation of amino acid transport|up regulation of amino acid transport|positive regulation of amino acid transmembrane transport|up-regulation of amino acid transport|activation of amino acid transport owl:Class GO:0051954 biolink:NamedThing positive regulation of amine transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl up regulation of amine transport|up-regulation of amine transport|upregulation of amine transport|activation of amine transport|stimulation of amine transport owl:Class UBERON:0004290 biolink:NamedThing dermomyotome tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005954 biolink:NamedThing screw worm infectious disease Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. tmpte7i6ely_mondo_relaxed.owl Cochliomyia hominivorax disease or disorder|Cochliomyia hominivorax infectious disease|infections, screw worm|screw worm infections|Cochliomyia hominivorax caused disease or disorder|infection, screw worm EFO:0007479|MESH:D012610|DOID:12927 owl:Class MONDO:0020732 biolink:NamedThing progeria tmpte7i6ely_mondo_relaxed.owl OMIMPS:176670 owl:Class MONDO:0016921 biolink:NamedThing partial duplication of chromosome 1 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 1|partial duplication of chromosome type 1 SCTID:726338000|Orphanet:262191 owl:Class MONDO:0000540 biolink:NamedThing small intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl small intestinal neuroendocrine tumor G1|carcinoid tumor of the small bowel|small intestine neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of small bowel|small intestinal carcinoid tumor|small intestine carcinoid tumor|small intestine neuroendocrine neoplasm G1|small intestine NET G1|small intestinal NET G1|carcinoid tumor of small intestine|small intestine carcinoid neuroendocrine tumor|carcinoid tumor of the small intestine|grade 1 neuroendocrine neoplasm of small intestine|small bowel carcinoid tumor|small intestine carcinoid tumor (disease) DOID:0050925|UMLS:C0349536|SCTID:276818002|NCIT:C4638 owl:Class MONDO:0002995 biolink:NamedThing small intestine neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestine neuroendocrine tumor|small intestinal neuroendocrine tumor|small intestinal well differentiated endocrine tumor|small intestinal NET|carcinoid tumor of small intestine|small intestinal well differentiated endocrine tumor/carcinoma EFO:1001928|UMLS:C3272528|NCIT:C96061 owl:Class MONDO:0014764 biolink:NamedThing spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia-psychomotor retardation-seizures syndrome|SPPRS|spastic paraplegia and psychomotor retardation with or without seizures|SPPRS syndrome OMIM:616756|Orphanet:464282|UMLS:C4225215 owl:Class NCBITaxon:9845 biolink:NamedThing Ruminantia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1900426 biolink:NamedThing positive regulation of defense response to bacterium Any process that activates or increases the frequency, rate or extent of defense response to bacterium. tmpte7i6ely_mondo_relaxed.owl positive regulation of defense response to bacteria|activation of defence response to bacteria|activation of antibacterial peptide activity|activation of defense response to bacteria|positive regulation of defence response to bacterium|up regulation of defence response to bacterium|activation of defense response to bacterium|up regulation of defense response to bacteria|activation of resistance response to pathogenic bacterium|positive regulation of antibacterial peptide activity|up-regulation of antibacterial peptide activity|up-regulation of defence response to bacterium|positive regulation of defence response to bacteria|activation of defence response to bacterium|up-regulation of defense response to bacteria|up regulation of defence response to bacteria|upregulation of defense response to bacteria|upregulation of antibacterial peptide activity|up-regulation of defence response to bacteria|up regulation of defense response to bacterium|upregulation of defense response to bacterium|up-regulation of defense response to bacterium|upregulation of defence response to bacterium|positive regulation of defense response to bacterium, incompatible interaction|activation of resistance response to pathogenic bacteria|upregulation of defence response to bacteria|up regulation of antibacterial peptide activity owl:Class MONDO:0002178 biolink:NamedThing placenta cancer A malignant neoplasm involving the placenta. tmpte7i6ely_mondo_relaxed.owl malignant placenta tumor|placental tumors|placental cancer|cancer of placenta|deciduoma, malignant|malignant tumor of the placenta|malignant neoplasm of placenta|malignant placental tumor|malignant neoplasm of the placenta|placenta cancer|malignant tumor of placenta|malignant placental neoplasm|primary malignant neoplasm of placenta|malignant placenta neoplasm ICD9:239.5|UMLS:C0153572|SCTID:126920004|DOID:2021|NCIT:C3555|ICD10:C58|ICD9:181 owl:Class MONDO:0021218 biolink:NamedThing placenta neoplasm A neoplasm (disease) that involves the placenta. tmpte7i6ely_mondo_relaxed.owl placental neoplasm|placenta neoplasm (disease)|trophoblastic tumor placental site|tumor of placenta|placenta neoplasms|placenta tumor|neoplasm of placenta|placental tumors|placenta tumors|tumor of the placenta|placental tumor|neoplasm of the placenta GARD:0007403|NCIT:C4858 owl:Class PO:0000018 biolink:NamedThing ovule primordium A floral structure primordium (PO:0025477) that is committed to the development of an ovule (PO:0020003). tmpte7i6ely_mondo_relaxed.owl portion of ovule primordium tissue (exact)|primordio de óvulo (Spanish, exact)|胚珠原基（可視的） (Japanese, exact) PO_GIT:465 The transition from ovule primordium to ovule occurs when an integument (PO:0020021) begins to develop from the protoderm (PO:0006210). plant_anatomy owl:Class PO:0025477 biolink:NamedThing floral organ primordium A primordium (PO:0025127) that is committed to the development of a floral organ (PO:0025395) and is part of a reproductive shoot apex (PO:0025222). tmpte7i6ely_mondo_relaxed.owl 花器官原基 (Japanese, exact)|floral structure primordia (exact, plural)|portion of floral structure primordium tissue (exact)|primordio de organo floral (Spanish, exact) PO_GIT:465 If annotating to a primordium of a floral structure, it is better to use the more specific term, such as petal primordium (PO:0000021) or anther primordium (PO:0006089). rwalls 2012-04-26T03:57:09Z plant_anatomy owl:Class UBERON:0004054 biolink:NamedThing internal male genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004175 biolink:NamedThing internal genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013720 biolink:NamedThing complement component 4b deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene. tmpte7i6ely_mondo_relaxed.owl complement component 4B deficiency|complement component 4b deficiency|classic complement early component deficiency caused by mutation in C4B|C4BD|C4B classic complement early component deficiency|C4B deficiency ICD10:D84.1|UMLS:C3280641|Orphanet:169147|OMIM:614379|DOID:0060298 owl:Class MONDO:0015699 biolink:NamedThing immunodeficiency due to a classical component pathway complement deficiency tmpte7i6ely_mondo_relaxed.owl immunodeficiency due to C1, C4, or C2 component complement deficiency|immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency OMIM:216950|OMIM:613783|Orphanet:169147|OMIM:613652|OMIM:614379|OMIM:614380|ICD10:D84.1|OMIM:217000 owl:Class MONDO:0018469 biolink:NamedThing pulmonary non-tuberculous mycobacterial infection tmpte7i6ely_mondo_relaxed.owl non-tuberculous mycobacterial lung disease|nontuberculous mycobacterial lung disease UMLS:CN237452|Orphanet:411703|GARD:0012829|ICD10:A31.0 owl:Class MONDO:0011121 biolink:NamedThing paragangliomas 2 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. tmpte7i6ely_mondo_relaxed.owl glomus tumors, familial, 2|SDHAF2 paraganglioma|paragangliomas 2|PGL2|paraganglioma caused by mutation in SDHAF2|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|paragangliomas type 2 MESH:C566646|OMIM:601650|GARD:0010544|Orphanet:29072 https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2 owl:Class MONDO:0018450 biolink:NamedThing spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. tmpte7i6ely_mondo_relaxed.owl X-linked spinal muscular atrophy with respiratory distress|SMARD2|diaphragmatic spinal muscular atrophy type 2|severe infantile axonal neuropathy with respiratory failure type 2 ICD10:G12.2|Orphanet:404521|UMLS:CN226195 owl:Class MONDO:0018451 biolink:NamedThing X-linked distal hereditary motor neuropathy X-linked form of distal hereditary motor neuropathy. tmpte7i6ely_mondo_relaxed.owl X-linked dHMN|X-linked distal spinal muscular atrophy|distal hereditary motor neuropathy, X-linked ICD10:G12.2|Orphanet:404538 owl:Class MONDO:0013967 biolink:NamedThing peroxisome biogenesis disorder 14B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder type 14B|peroxisome biogenesis disorder 14B|PEX14B|PEX11B peroxisome biogenesis disorder Orphanet:44|OMIM:614920|Orphanet:772|UMLS:C3554055 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100279 biolink:NamedThing peroxisome biogenesis disorder due to PEX11B defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene. tmpte7i6ely_mondo_relaxed.owl PEX11B related peroxisome biogenesis disorder|peroxisome biogenesis disorder due to PEX11B defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0009675 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. tmpte7i6ely_mondo_relaxed.owl limb-girdle muscular dystrophy type 2A|muscular dystrophy limb girdle type 2A, erb type|muscular dystrophy, Pelvofemoral|Leyden-Moebius muscular dystrophy|muscular dystrophy, limb-girdle, type 2|LGMD2|primary calpainopathy|CAPN3 autosomal recessive limb-girdle muscular dystrophy|LGMD2A|pelvofemoral muscular dystrophy|muscular dystrophy, limb-girdle, type 2A|autosomal recessive limb-girdle muscular dystrophy type 2A|limb-girdle muscular dystrophy type 2|myositis, eosinophilic|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3|calpainopathy|limb-girdle muscular dystrophy due to calpain deficiency OMIM:253600|MESH:C535895|DOID:0110275|GARD:0001057|ICD10:G71.0|SCTID:715341003|GARD:0003845|Orphanet:267|NCIT:C142079 owl:Class GO:1903524 biolink:NamedThing positive regulation of blood circulation Any process that activates or increases the frequency, rate or extent of blood circulation. tmpte7i6ely_mondo_relaxed.owl activation of blood circulation|upregulation of blood circulation|up regulation of hemolymph circulation|activation of hemolymph circulation|up-regulation of blood circulation|up-regulation of hemolymph circulation|up regulation of blood circulation|positive regulation of hemolymph circulation|upregulation of hemolymph circulation owl:Class MONDO:0012623 biolink:NamedThing intellectual disability, autosomal recessive 4 tmpte7i6ely_mondo_relaxed.owl MRT4|mental retardation, autosomal recessive 4|intellectual disability, autosomal recessive 4 OMIM:611107|MESH:C567008|UMLS:C1970179 owl:Class MONDO:0013456 biolink:NamedThing constitutional megaloblastic anemia with severe neurologic disease tmpte7i6ely_mondo_relaxed.owl dihydrofolate reductase deficiency|DHFR deficiency|megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839|ICD10:D52.8|GARD:0011000|SCTID:124178006|Orphanet:319651|MESH:C565095 owl:Class NCBITaxon:34502 biolink:NamedThing Troglotrematidae tmpte7i6ely_mondo_relaxed.owl Paragonimidae GC_ID:1 NCBITaxon:99728 ncbi_taxonomy owl:Class NCBITaxon:116925 biolink:NamedThing Troglotremata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007267 biolink:NamedThing trachea pre-cartilage rings tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044646 biolink:NamedThing early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome tmpte7i6ely_mondo_relaxed.owl encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|PEBAT UMLS:C4310671|Orphanet:496641|OMIM:617193 owl:Class GO:0006446 biolink:NamedThing regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002617 biolink:NamedThing bone angiosarcoma A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. tmpte7i6ely_mondo_relaxed.owl bone Hemangioendothelial sarcoma|bone angiosarcoma|osseous hemangiosarcoma|bone tissue angiosarcoma (disease)|osseous angiosarcoma|bone hemangiosarcoma|angiosarcoma (disease) of bone tissue|bone angioendothelial sarcoma|osseous angioendothelial sarcoma NCIT:C6479|DOID:3351|UMLS:C1332574 owl:Class GO:0043467 biolink:NamedThing regulation of generation of precursor metabolites and energy Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50906 biolink:NamedThing role A role is particular behaviour which a material entity may exhibit. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005679 biolink:NamedThing bovine virus diarrhea-mucosal disease Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. tmpte7i6ely_mondo_relaxed.owl UMLS:C0006075|MESH:D001912|EFO:0007181 owl:Class MONDO:0009873 biolink:NamedThing pilodental dysplasia-refractive errors syndrome Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl Kopysc-Barczyk-Krol syndrome|PILODENTAL dysplasia with refractive errors|Trichodental dysplasia with hyperopia|Euhidrotic ectodermal dysplasia GARD:0000277|OMIM:262020|UMLS:C1849805|MESH:C535763|Orphanet:2892 owl:Class MONDO:0016079 biolink:NamedThing sporadic Creutzfeldt-Jakob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD). tmpte7i6ely_mondo_relaxed.owl sporadic CJD SCTID:713060000|OMIM:123400|ICD9:046.19|ICD10:A81.0|MESH:D007562|Orphanet:204|MedDRA:10011384 owl:Class MONDO:0007403 biolink:NamedThing inherited Creutzfeldt-Jakob disease Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. tmpte7i6ely_mondo_relaxed.owl hereditary Creutzfeldt Jacob disease|Creutzfeldt-Jakob disease, sporadic|Creutzfeldt-Jakob disease, familial|inherited CJD|CJD|Creutzfeldt-Jakob disease, Heidenhain variant|Creutzfeldt-Jakob disease, variant|Creutzfeldt-Jakob disease OMIM:123400|UMLS:CN202816|ICD10:A81.0|Orphanet:282166|Orphanet:204|SCTID:715807002 owl:Class GO:0030258 biolink:NamedThing lipid modification The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044255 biolink:NamedThing cellular lipid metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular lipid metabolism owl:Class MONDO:0010518 biolink:NamedThing Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. tmpte7i6ely_mondo_relaxed.owl Wiskott Aldrich syndrome|immunodeficiency 2|Wiskott-Aldrich syndrome|eczema-thrombocytopenia-immunodeficiency syndrome|Wiskott syndrome|Imd 2|Wiskott-Aldrich syndrome 1|WAS|Aldrich syndrome|eczema thrombocytopenia immunodeficiency syndrome OMIM:301000|ICD9:279.12|GARD:0007895|Orphanet:906|MESH:D014923|SCTID:36070007|OMIM:614493|DOID:9169|MedDRA:10047992|ICD10:D82.0|UMLS:C0043194|OMIM:600903|NCIT:C3448 https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome owl:Class GO:0070008 biolink:NamedThing serine-type exopeptidase activity Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008236 biolink:NamedThing serine-type peptidase activity Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpte7i6ely_mondo_relaxed.owl serine protease activity owl:Class MONDO:0003235 biolink:NamedThing optic nerve glioma A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. tmpte7i6ely_mondo_relaxed.owl optic nerve glioma|cranial nerve II glioma|glioma of the optic nerve|glioma of optic nerve|glioma of cranial nerve II SCTID:254976006|UMLS:C0346326|NCIT:C4537|MESH:D020339|ICD9:237.9|DOID:4992 owl:Class GO:0015812 biolink:NamedThing gamma-aminobutyric acid transport The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl 4-aminobutyrate transport|4-aminobutanoate transport|GABA transport owl:Class GO:0046942 biolink:NamedThing carboxylic acid transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002368 biolink:NamedThing papillary serous cystadenocarcinoma A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. tmpte7i6ely_mondo_relaxed.owl serous surface papillary carcinoma (morphologic abnormality)|papillary serous adenocarcinoma|papillary serous carcinoma|papillary serous cystadenocarcinoma|micropapillary serous carcinoma SCTID:716649003|UMLS:C0334359|DOID:2632|ICDO:8460/3|NCIT:C8377 owl:Class GO:0007631 biolink:NamedThing feeding behavior Behavior associated with the intake of food. tmpte7i6ely_mondo_relaxed.owl feeding on or from other organism|taking of blood meal|feeding behaviour|feeding on plant sap|feeding on blood of other organism|feeding from phloem of other organism|hematophagy|eating|feeding from xylem of other organism|feeding from vascular tissue of another organism|behavioural response to food|feeding from tissue of other organism|behavioral response to food|injection of substance into other organism during feeding on blood of other organism|feeding from plant phloem owl:Class GO:0050994 biolink:NamedThing regulation of lipid catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpte7i6ely_mondo_relaxed.owl regulation of lipid degradation|regulation of lipid breakdown|regulation of lipid catabolism owl:Class MONDO:0007583 biolink:NamedThing exostoses of heel tmpte7i6ely_mondo_relaxed.owl exostoses of heel UMLS:C0877431|OMIM:133600|MESH:C563167 Editor note: consider obsoleting owl:Class MONDO:0021124 biolink:NamedThing female infertility Diminished or absent ability of a female to achieve conception. tmpte7i6ely_mondo_relaxed.owl female reproductive system infertility disorder|subfertility, female|female infertility|sterility, postpartum|sub fertility, female|female reproductive system infertility|infertility disorder of female reproductive system|sub-fertility, female|female sterility|female subfertility|postpartum sterility|female sub-fertility|sterility, female UMLS:C0341869|ICD9:628.8|ICD9:628.9|EFO:0008560|SCTID:6738008|MESH:D007247|ICD10:N97 owl:Class MONDO:0019779 biolink:NamedThing Renier-Gabreels-Jasper syndrome Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpte7i6ely_mondo_relaxed.owl Renier Gabreels Jasper syndrome OMIM:309580|Orphanet:93975|UMLS:CN206720|SCTID:723501008|GARD:0004672 https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome owl:Class MONDO:0010663 biolink:NamedThing X-linked intellectual disability-hypotonic face syndrome Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features. tmpte7i6ely_mondo_relaxed.owl Chudley-Lowry syndrome|mental Retradation, X-linked with Growth delay, deafness, Microgenitalism|Carpenter-Waziri syndrome|Juberg-Marsidi mental retardation syndrome|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|mental retardation-hypotonic facies syndrome, X-linked, 1|sfms|intellectual disability-hypotonic facies syndrome, X-linked, 1|MRXHF1|JMS|X-linked hypogonadism gynecomastia mental retardation|XLMR-hypotonic facies syndrome|Juberg Marsidi syndrome|Juberg-Marsidi syndrome|mental retardation-hypotonic facies syndrome, X-linked, type 1|Smith-Fineman-Myers syndrome 1|Holmes-Gang syndrome|intellectual disability-hypotonic facies syndrome, X-linked, type 1|X-linked hypogonadism gynecomastia intellectual disability Orphanet:93975|Orphanet:93974|GARD:0000081|Orphanet:93972|OMIM:309580|UMLS:CN205653|Orphanet:93971|Orphanet:73220|Orphanet:93973|Orphanet:93970 owl:Class MONDO:0016156 biolink:NamedThing qualitative or quantitative defects of FKRP tmpte7i6ely_mondo_relaxed.owl Orphanet:207119 owl:Class MONDO:0017919 biolink:NamedThing exstrophy-epispadias complex A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. tmpte7i6ely_mondo_relaxed.owl bladder exstrophy-epispadias-cloacal extrophy complex|BEEC|EEC|OEIS syndrome|OEIS complex GARD:0002207|ICD10:Q64.1|OMIM:600057|UMLS:C1850321|OMIM:258040|NCIT:C99142|Orphanet:322|DOID:0080173 https://github.com/monarch-initiative/mondo/issues/3650 owl:Class MONDO:0020021 biolink:NamedThing diaphragmatic or abdominal wall malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98043 owl:Class MONDO:0008145 biolink:NamedThing Ollier disease A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. tmpte7i6ely_mondo_relaxed.owl enchondromatosis, multiple|osteochondromatosis|dyschondroplasia|enchondromatosis with haemangiomata|enchondromatosis|Ollier disease|Ollier type enchondromatosis|Kast's syndrome|multiple cartilaginous enchondroses|multiple enchondromatosis|enchondromatosis, multiple, Ollier type|Ollier's disease NCIT:C3008|DOID:4624|OMIM:166000|NCIT:C3213|SCTID:46041001|UMLS:C0024454|GARD:0007251|ICD10:Q78.4|Orphanet:296|SCTID:268274005|UMLS:CN203308|UMLS:C0014084|UMLS:C0206641|MedDRA:10014642 https://rarediseases.info.nih.gov/diseases/7251/ollier-disease owl:Class MONDO:0001955 biolink:NamedThing protozoal dysentery A dysentery that involves protozoan infection. tmpte7i6ely_mondo_relaxed.owl ICD10:B50.B64|ICD10:A07.8|DOID:14397|ICD9:007.8 owl:Class MONDO:0009253 biolink:NamedThing Fryns syndrome Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. tmpte7i6ely_mondo_relaxed.owl Moerman Van den Berghe Fryns syndrome|Fryns syndrome|FRNS|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|diaphragmatic hernia, abnormal face, and distal limb anomalies SCTID:702432006|ICD10:Q87.8|OMIM:229850|UMLS:C0220730|Orphanet:2059|ICD9:759.89|GARD:0003699|NCIT:C98932|MESH:C538070 https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome owl:Class MONDO:0006337 biolink:NamedThing ovarian endometriosis A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. tmpte7i6ely_mondo_relaxed.owl endometriosis (disease) of ovary|endometriosis of ovary|ovary endometriosis (disease)|ovarian endometriosis ICD9:617.1|SCTID:266589005|ICD10:N80.1|EFO:1000418|DOID:11432|NCIT:C27628|UMLS:C0156344 owl:Class MONDO:0010141 biolink:NamedThing tiglic acidemia tmpte7i6ely_mondo_relaxed.owl disorder of isoleucine metabolism|tiglic acidemia SCTID:444755001|GARD:0009958|MESH:C536921|UMLS:C1848793|ICD9:270.8|OMIM:275190 https://rarediseases.info.nih.gov/diseases/9958/tiglic-acidemia owl:Class HP:0000940 biolink:NamedThing Abnormal diaphysis morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. tmpte7i6ely_mondo_relaxed.owl Abnormality of the diaphyses|Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology|Abnormal shape of shaft of long bone|Abnormality of shaft of long bone of the limbs UMLS:C4021787 HP:0006504 human_phenotype owl:Class GO:1901661 biolink:NamedThing quinone metabolic process The chemical reactions and pathways involving quinone. tmpte7i6ely_mondo_relaxed.owl quinone metabolism|quinone cofactor metabolic process|quinone cofactor metabolism owl:Class GO:0042180 biolink:NamedThing cellular ketone metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpte7i6ely_mondo_relaxed.owl ketone metabolism owl:Class MONDO:0003557 biolink:NamedThing optic nerve sheath meningioma A meningioma that affects the sheath of the optic nerve. tmpte7i6ely_mondo_relaxed.owl meningioma of optic nerve sheath|meningioma of the optic nerve sheath|optic nerve sheath meningioma ICD9:237.9|DOID:5632|NCIT:C4538|UMLS:C0346328|SCTID:254978007 Editor note: TODO axiomatize owl:Class GO:1905209 biolink:NamedThing positive regulation of cardiocyte differentiation Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of heart cell differentiation|up regulation of cardiocyte differentiation|up-regulation of cardiocyte differentiation|upregulation of heart cell differentiation|upregulation of cardiac cell differentiation|activation of cardiocyte differentiation|activation of cardiac cell differentiation|up-regulation of heart cell differentiation|upregulation of cardiocyte differentiation|up regulation of cardiac cell differentiation|activation of heart cell differentiation|up-regulation of cardiac cell differentiation|positive regulation of heart cell differentiation|positive regulation of cardiac cell differentiation owl:Class MONDO:0006507 biolink:NamedThing hereditary hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. tmpte7i6ely_mondo_relaxed.owl iron storage disorder|haemochromatosis|hemochromatosis, hereditary|diabetes bronze|hemochromatosis OMIMPS:235200|ICD10:E83.11|NCIT:C84481|GARD:0010746|DOID:2352|SCTID:35400008|MESH:D006432|OMIM:231100|ICD10:E83.119|EFO:1000642|ICD10:E83.110 Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 https://github.com/monarch-initiative/mondo/issues/3557 owl:Class MONDO:0001304 biolink:NamedThing benign hypertensive renal disease tmpte7i6ely_mondo_relaxed.owl hypertensive renal disease, benign, without mention of renal failure|hypertensive renal disease, benign ICD9:403.1|SCTID:193003|UMLS:C0155596|ICD9:403.10|DOID:11520 owl:Class GO:0004866 biolink:NamedThing endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpte7i6ely_mondo_relaxed.owl endoproteinase inhibitor|alpha-2 macroglobulin|proteinase inhibitor owl:Class GO:0061135 biolink:NamedThing endopeptidase regulator activity Binds to and modulates the activity of a peptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020453 biolink:NamedThing congenital partial pulmonary venous return anomaly Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea. tmpte7i6ely_mondo_relaxed.owl Partial anomalous pulmonary Venous return|Partial anomalous pulmonary Venous connection ICD10:Q26.3|NCIT:C99004|SCTID:68237008|Orphanet:99124 owl:Class MONDO:0017705 biolink:NamedThing congenital pulmonary venous return anomaly Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous. tmpte7i6ely_mondo_relaxed.owl congenital pulmonary venous connection anomaly|TAPVR1|total anomalous pulmonary venous return|pulmonary venous return anomaly|scimitar syndrome|TAPVR|anomalous pulmonary venous return|APVR|scimitar anomaly UMLS:C0036400|ICD10:Q26.2|Orphanet:3090|OMIM:106700|ICD10:Q26.3|GARD:0004599|ICD10:Q26.4 owl:Class MONDO:0013084 biolink:NamedThing neuroblastoma, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl neuroblastoma, susceptibility to, 4|NBLST4 OMIM:613015 owl:Class HGNC:7808 biolink:NamedThing NGF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012538 biolink:NamedThing nemaline myopathy 7 Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy caused by mutation in CFL2|CFL2 nemaline myopathy|nemaline myopathy 7, autosomal recessive|nemaline myopathy type 7|nemaline myopathy 7|NEM7 Orphanet:607|MESH:C565198|OMIM:610687|UMLS:C1853154|DOID:0110934 owl:Class MONDO:0015737 biolink:NamedThing typical nemaline myopathy Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement. tmpte7i6ely_mondo_relaxed.owl typical congenital nemaline myopathy OMIM:256030|ICD10:G71.2|OMIM:615731|OMIM:616165|OMIM:161800|OMIM:610687|OMIM:609285|GARD:0012822|Orphanet:171436 owl:Class MONDO:0008019 biolink:NamedThing mullerian aplasia and hyperandrogenism Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. tmpte7i6ely_mondo_relaxed.owl Mullerian duct failure and hyperandrogenism|Müllerian aplasia and hyperandrogenism|mullerian aplasia and hyperandrogenism|WNT4 deficiency|Müllerian duct failure and hyperandrogenism Orphanet:247768|MESH:C567186|Orphanet:3109|NCIT:C120376|DOID:0111526|ICD10:Q51.8|OMIM:158330|UMLS:C2675014 owl:Class UBERON:0005389 biolink:NamedThing transparent eye structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044879 biolink:NamedThing pancreatic mucinous-cystic neoplasm A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. tmpte7i6ely_mondo_relaxed.owl mucinous cystic neoplasm|Pancreatic mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm NCIT:C41247|ONCOTREE:MCN owl:Class MONDO:0024338 biolink:NamedThing mucinous neoplasm tmpte7i6ely_mondo_relaxed.owl mucinous neoplasm|mucinous tumor UMLS:C1334811|NCIT:C7070 owl:Class UBERON:0006661 biolink:NamedThing epicranial aponeurosis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006614 biolink:NamedThing aponeurosis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009106 biolink:NamedThing lipoate metabolic process The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. tmpte7i6ely_mondo_relaxed.owl lipoic acid metabolic process|lipoate metabolism|lipoic acid metabolism owl:Class GO:0006631 biolink:NamedThing fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. tmpte7i6ely_mondo_relaxed.owl fatty acid metabolism owl:Class GO:2000146 biolink:NamedThing negative regulation of cell motility Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. tmpte7i6ely_mondo_relaxed.owl negative regulation of cell movement|negative regulation of movement of a cell|negative regulation of cell locomotion owl:Class GO:0040013 biolink:NamedThing negative regulation of locomotion Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. tmpte7i6ely_mondo_relaxed.owl inhibition of locomotion|down regulation of locomotion|down-regulation of locomotion|downregulation of locomotion owl:Class MONDO:0007909 biolink:NamedThing familial multiple lipomatosis Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. tmpte7i6ely_mondo_relaxed.owl lipomatosis, multiple|lipomatosis, familial multiple|lipoma SCTID:766888002|GARD:0012925|ICD9:214.8|ICD9:214.9|Orphanet:199276|ICD10:E88.2|OMIM:151900 owl:Class MONDO:0016482 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 tmpte7i6ely_mondo_relaxed.owl Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11|UPD(11)mat ICD10:Q87.1|UMLS:CN201477|Orphanet:231147 owl:Class MONDO:0011844 biolink:NamedThing myoclonic dystonia 15 A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11. tmpte7i6ely_mondo_relaxed.owl dystonia 15, myoclonic|myoclonic dystonia type 15|DYT15 Orphanet:210566|MESH:C538002|OMIM:607488|DOID:0090035|UMLS:C1843786 owl:Class MONDO:0011908 biolink:NamedThing juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl juvenile myelomonocytic leukemia|JMML|juvenile chronic myelomonocytic leukemia|juvenile chronic myelogenous leukemia|chronic myelomonocytic leukemia|leukemia, chronic myelomonocytic|leukemia, juvenile myelomonocytic|JCML|juvenile chronic myeloid leukemia ICD10:C93.3|UMLS:C0023480|MedDRA:10023249|SCTID:445227008|Orphanet:86834|GARD:0009884|DOID:0050458|NCIT:C9233|ICD10:C93.30|OMIM:607785|ICDO:9946/3|UMLS:C0349639|MESH:D054429|EFO:1000309|ONCOTREE:JMML owl:Class MONDO:0020311 biolink:NamedThing chronic myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. tmpte7i6ely_mondo_relaxed.owl CMML|chronic myelomonocytic leukemia|chronic myelomonocytic leukemia (CMML) DOID:0080188|GARD:0008225|ONCOTREE:CMML|MedDRA:10009018|NCIT:C3178|ICDO:9945/3|ICD10:C93.1|SCTID:127225006|UMLS:C0023480|Orphanet:98823|MESH:D015477 owl:Class UBERON:0017650 biolink:NamedThing developing mesenchymal structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021574 biolink:NamedThing oocyte maturation defect 3 tmpte7i6ely_mondo_relaxed.owl oocyte maturation defect 3|OOMD3 OMIM:617712|Orphanet:404466 owl:Class UBERON:0035465 biolink:NamedThing endometrial cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016174 biolink:NamedThing paraneoplastic sensory ganglionopathy tmpte7i6ely_mondo_relaxed.owl paraneoplastic sensory neuronopathy Orphanet:208999 owl:Class MONDO:0018215 biolink:NamedThing paraneoplastic neurologic syndrome A paraneoplastic syndrome that involves the nervous system. tmpte7i6ely_mondo_relaxed.owl paraneoplastic syndrome of nervous system|PCD|nervous system paraneoplastic syndrome|paraneoplastic cerebellar degeneration|PNS Orphanet:36388|SCTID:192877007|GARD:0007326|ICD9:331.89|MedDRA:10072106 owl:Class MONDO:0017929 biolink:NamedThing congenital achiasma Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. tmpte7i6ely_mondo_relaxed.owl ICD10:H47.4|SCTID:734031008|Orphanet:324353 owl:Class MONDO:0011704 biolink:NamedThing glaucoma 1, open angle, B tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, B|GLC1B OMIM:606689 owl:Class NCBITaxon:10880 biolink:NamedThing Reoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732541 biolink:NamedThing Reovirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr12p12 biolink:NamedThing 12p12 (Human) tmpte7i6ely_mondo_relaxed.owl 26300000 14600000 hg38 owl:Class MONDO:0014283 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 56 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene. tmpte7i6ely_mondo_relaxed.owl DFNA56|autosomal dominant nonsyndromic deafness type 56|deafness, autosomal dominant 56|deafness, autosomal dominant type 56|TNC autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TNC|autosomal dominant nonsyndromic deafness 56|autosomal dominant deafness 56 UMLS:C3810170|ICD10:H90.3|DOID:0110581|OMIM:615629 owl:Class MONDO:0012382 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 4 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene. tmpte7i6ely_mondo_relaxed.owl M-SCHAD deficiency|had deficiency|hyperinsulinemic hypoglycemia, familial, type 4|hyperinsulinemic hypoglycemia due to HADH deficiency|hyperinsulinism due to glutamodehydrogenase deficiency|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency|hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|HADH hyperinsulinemic hypoglycemia (disease)|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinism due to SCHAD deficiency|HADH deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|HHF4|3-hydroxyacyl-CoA dehydrogenase deficiency|HADHSC deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|SCHAD deficiency, formerly|3-alpha hydroxyacyl-CoA dehydrogenase deficiency|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|hyperinsulinemic hypoglycemia, familial, 4|SCHAD deficiency|M/SCHAD|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ICD10:E71.3|DOID:0070215|GARD:0009870|OMIM:231530|UMLS:C4303473|MESH:C535310|OMIM:609975|SCTID:721236002|MESH:C566493|Orphanet:71212|UMLS:C1864948 https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency|https://github.com/monarch-initiative/mondo/issues/3977 owl:Class MONDO:0017715 biolink:NamedThing 3-hydroxyacyl-CoA dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:E71.3|OMIM:231530|Orphanet:309127 owl:Class CL:0000881 biolink:NamedThing perivascular macrophage A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+. tmpte7i6ely_mondo_relaxed.owl Markers: Human/monkey, mice: CD163. Human: CD14+CD16+CD163+. cell owl:Class CL:0000878 biolink:NamedThing central nervous system macrophage A tissue-resident macrophage found in the central nervous system. tmpte7i6ely_mondo_relaxed.owl CNS macrophage cell owl:Class MONDO:0013628 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 3 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene. tmpte7i6ely_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome 3|mental retardation, autosomal recessive 17|mental retardation, autosomal recessive 21|glycosylphosphatidylinositol biosynthesis defect 8|PGAP2 hyperphosphatasia-intellectual disability syndrome|intellectual disability, autosomal recessive 17|hyperphosphatasia with mental retardation syndrome type 3|intellectual disability, autosomal recessive 21|hyperphosphatasia with mental retardation syndrome 3|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|HPMRS3|hyperphosphatasia with intellectual disability syndrome type 3 UMLS:C3280153|OMIM:614207|Orphanet:247262 owl:Class MONDO:0016596 biolink:NamedThing hyperphosphatasia-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome|Mabry syndrome|hyperphosphatasia with mental retardation syndrome|HPMR OMIM:614207|OMIM:614749|Orphanet:247262|OMIM:616809|SCTID:33982008|OMIM:616025|OMIM:239300|UMLS:C1855923|OMIMPS:239300|OMIM:615716 owl:Class HP:0002186 biolink:NamedThing Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. tmpte7i6ely_mondo_relaxed.owl Apraxias SNOMEDCT_US:6950007|MSH:D001072|SNOMEDCT_US:68345001|UMLS:C0003635 human_phenotype owl:Class HGNC:8059 biolink:NamedThing NUMA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005632 biolink:NamedThing acute chest syndrome A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. tmpte7i6ely_mondo_relaxed.owl acute chest syndrome in sickle cell disease|ACS NCIT:C138179|SCTID:372146004|MESH:D056586|EFO:0007129|DOID:1584|UMLS:C0742343|ICD9:517.3 owl:Class MONDO:0019436 biolink:NamedThing psoriasis-related juvenile idiopathic arthritis Childhood arthritis typically associated with psoriasis. tmpte7i6ely_mondo_relaxed.owl juvenile psoriatic arthritis|JPsA|psoriasis-related JIA Orphanet:85436|ICD10:M09.0*|ICD10:L40.5+|SCTID:239802003|NCIT:C114361|GARD:0010970 owl:Class MONDO:0019439 biolink:NamedThing AA amyloidosis Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. tmpte7i6ely_mondo_relaxed.owl amyloidosis AA|secondary amyloidosis|amyloid A amyloidosis|inflammatory amyloidosis|reactive amyloidosis UMLS:C3536715|MedDRA:10039811|GARD:0010560|NCIT:C3818|Orphanet:85445|ICD9:277.39|SCTID:281034005|UMLS:C0221014|ICD10:E85.3 https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa owl:Class MONDO:0016179 biolink:NamedThing acquired amyloid peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl Orphanet:209013 owl:Class GO:0045606 biolink:NamedThing positive regulation of epidermal cell differentiation Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation. tmpte7i6ely_mondo_relaxed.owl upregulation of epidermal cell differentiation|stimulation of epidermal cell differentiation|up regulation of epidermal cell differentiation|positive regulation of hypodermal cell differentiation|activation of epidermal cell differentiation|up-regulation of epidermal cell differentiation owl:Class GO:0045604 biolink:NamedThing regulation of epidermal cell differentiation Any process that modulates the frequency, rate or extent of epidermal cell differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of hypodermal cell differentiation owl:Class MONDO:0009336 biolink:NamedThing hemosiderosis, pulmonary, with deficiency of gamma-a globulin tmpte7i6ely_mondo_relaxed.owl hemosiderosis, pulmonary, with deficiency of gamma-a globulin Orphanet:99931|OMIM:235500 owl:Class MONDO:0008346 biolink:NamedThing pulmonary hemosiderosis Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. tmpte7i6ely_mondo_relaxed.owl idiopathic pulmonary hemosiderosis|siderosis|pulmonary siderosis|brown lung|alveolar hypoventilation syndrome|brown induration|pulmonary hemosiderosis MESH:D012806|DOID:12118|ICD10:J84.03|ICD10:J63.4|GARD:0007645|GARD:0006763|Orphanet:99931|ICD10:J99.8*|ICD9:516.1|OMIM:178550|DOID:10328|OMIM:235500|SCTID:40527005|ICD10:E83.1+ https://rarediseases.info.nih.gov/diseases/7645/siderosis owl:Class MONDO:0009849 biolink:NamedThing hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). tmpte7i6ely_mondo_relaxed.owl hyperimmunoglobulinemia D and periodic fever syndrome|periodic fever Dutch type|periodic fever, Dutch type|hyperimmunoglobulinemia D syndrome|HIDS|partial mevalonate kinase deficiency|hyperimmunoglobinemia D with recurrent fever|hyper-IgD syndrome|hyper IgD syndrome OMIM:260920|UMLS:C0398691|GARD:0002788|ICD10:E85.0|Orphanet:343 owl:Class HP:0033747 biolink:NamedThing Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. tmpte7i6ely_mondo_relaxed.owl 2021-04-21 10:58:44+00:00 peter human_phenotype owl:Class HP:0003474 biolink:NamedThing Somatic sensory dysfunction An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. tmpte7i6ely_mondo_relaxed.owl Sensory impairment UMLS:C0020580|MSH:D006987|SNOMEDCT_US:397974008|SNOMEDCT_US:59073000|SNOMEDCT_US:398026008 This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. HP:0100964 human_phenotype owl:Class HGNC:24891 biolink:NamedThing DCAF8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900425 biolink:NamedThing negative regulation of defense response to bacterium Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. tmpte7i6ely_mondo_relaxed.owl downregulation of defense response to bacteria|inhibition of defence response to bacteria|down-regulation of defence response to bacterium|inhibition of defence response to pathogenic bacterium, incompatible interaction|inhibition of defence response to pathogenic bacteria, incompatible interaction|downregulation of defense response to bacterium|downregulation of defence response to bacterium|down regulation of defence response to bacterium|downregulation of antibacterial peptide activity|down regulation of defense response to bacteria|down-regulation of defense response to bacteria|down-regulation of antibacterial peptide activity|inhibition of defense response to bacteria|inhibition of resistance response to pathogenic bacterium|negative regulation of antibacterial peptide activity|down regulation of defence response to bacteria|negative regulation of defence response to bacteria|down-regulation of defense response to bacterium|inhibition of response to pathogenic bacteria (incompatible interaction)|downregulation of defence response to bacteria|inhibition of response to pathogenic bacterium (incompatible interaction)|inhibition of defence response to bacterium|down-regulation of defence response to bacteria|negative regulation of defense response to bacteria|inhibition of defense response to bacterium|negative regulation of defense response to bacterium, incompatible interaction|down regulation of antibacterial peptide activity|inhibition of resistance response to pathogenic bacteria|down regulation of defense response to bacterium|inhibition of defense response to bacterium, incompatible interaction|negative regulation of defence response to bacterium|inhibition of antibacterial peptide activity owl:Class HGNC:1058 biolink:NamedThing BLM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002022 biolink:NamedThing disorder of orbital region A disease that involves the orbital region. tmpte7i6ely_mondo_relaxed.owl orbital region disease|eye and adnexa disease|disorder of eye region|disease of orbital region|ophthalmological disorder|orbital region disease or disorder|disorder of orbital region|disease or disorder of orbital region SCTID:371409005|ICD10:H35.00|ICD10:H00.H59|ICD9:362.10|DOID:1492 owl:Class UBERON:0036925 biolink:NamedThing wall of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061045 biolink:NamedThing negative regulation of wound healing Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002854 biolink:NamedThing prostate sarcoma A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of prostate|sarcoma of the prostate|prostate gland sarcoma|prostate sarcoma|sarcoma of prostate gland UMLS:C0238393|NCIT:C7731|DOID:4054 owl:Class MONDO:0032839 biolink:NamedThing noonan syndrome 12 tmpte7i6ely_mondo_relaxed.owl NS12|NOONAN SYNDROME 12 OMIM:618624 owl:Class HP:0010914 biolink:NamedThing Abnormal circulating valine concentration Any deviation from the normal circulation of valine in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormality of valine metabolism UMLS:C4023656 peter 2010-12-08T08:51:14Z human_phenotype owl:Class HP:0010892 biolink:NamedThing Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023673 peter 2010-11-11T02:53:04Z human_phenotype owl:Class PATO:0001300 biolink:NamedThing optical quality An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001291 biolink:NamedThing electromagnetic (EM) radiation quality A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003252 biolink:NamedThing granular cell cancer An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity. tmpte7i6ely_mondo_relaxed.owl granular cell tumor, malignant|granular cell tumor, malignant (morphologic abnormality)|myoblastoma, malignant|malignant granular cell neoplasm|malignant granular cell myoblastoma|malignant granular cell tumor UMLS:C0334618|SCTID:404041003|ICD9:171.9|ICDO:9580/3|DOID:5042|NCIT:C4336 owl:Class MONDO:0021089 biolink:NamedThing peripheral nervous system cancer Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location tmpte7i6ely_mondo_relaxed.owl malignant peripheral nerve tumor|malignant neoplasm of peripheral nerve|malignant neoplasm of the peripheral nerve|malignant PNS tumor|malignant tumor of the peripheral nervous system|cancer of peripheral nervous system|malignant peripheral nervous system tumor|malignant peripheral nervous system neoplasm|malignant neoplasm of the PNS|peripheral nervous system cancer|malignant PNS neoplasm|malignant tumor of PNS|malignant tumor of the peripheral nerve|malignant tumor of the PNS|malignant neoplasms, peripheral nerve|malignant peripheral nerve neoplasm|malignant tumor of peripheral nervous system|malignant neoplasm of peripheral nervous system|malignant tumor of peripheral nerve|malignant neoplasm of the peripheral nervous system|malignant neoplasm of PNS|peripheral nervous system neoplasms, malignant SCTID:254986007|UMLS:C0751428|ICD9:171.9|NCIT:C4961 owl:Class UBERON:0003334 biolink:NamedThing serosa of rectum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001209 biolink:NamedThing serosa of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004787 biolink:NamedThing cervical mullerian papilloma A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells. tmpte7i6ely_mondo_relaxed.owl cervical Müllerian papilloma|cervical Muellerian papilloma|cervical Mullerian papilloma UMLS:C1516427|DOID:9442|NCIT:C40215 owl:Class HP:0100845 biolink:NamedThing Anaphylactic shock An acute hypersensitivity reaction due to exposure to a previously encountered antigen. tmpte7i6ely_mondo_relaxed.owl Anaphylaxis UMLS:C0002792|SNOMEDCT_US:39579001|MSH:D000707 Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. doelkens 2011-06-09T06:54:40Z human_phenotype owl:Class HP:0100326 biolink:NamedThing Immunologic hypersensitivity Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. tmpte7i6ely_mondo_relaxed.owl UMLS:C0237653 doelkens 2010-09-16T06:00:43Z human_phenotype owl:Class MONDO:0016086 biolink:NamedThing osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone tmpte7i6ely_mondo_relaxed.owl Kohler's disease|Kohler's disease of the tarsal navicular|osteochondritis of tarsal/metatarsal bone|navicular Osteochondrosis|juvenile osteochondrosis of foot|aseptic necrosis of the tarsal bone|Kohler's Osteochondrosis of the tarsal navicular|Kohler disease|Osteochondrosis of the tarsal bone DOID:11760|UMLS:CN200840|Orphanet:2054|ICD10:M93.2|GARD:0006842|SCTID:203392007|ICD9:732.5|UMLS:C0158444 https://rarediseases.info.nih.gov/diseases/6842/kohler-disease owl:Class MONDO:0012932 biolink:NamedThing myopia 16, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 16, autosomal dominant|MYP16 UMLS:C2675523|MESH:C567259|OMIM:612554 owl:Class UBERON:0004237 biolink:NamedThing blood vessel smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007864 biolink:NamedThing angioosteohypertrophic syndrome Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. tmpte7i6ely_mondo_relaxed.owl angio-osteohypertrophy syndrome|Weber-Klippel-Trenaunay|Ktw syndrome|Klippel-Trenaunay-Weber syndrome|angioosteohypertrophy syndrome|KTS|Klippel-Trenaunay syndrome|Klippel-Trénaunay-Weber syndrome|Klippel Trenaunay syndrome|Klippel-Trénaunay syndrome|haemangiectatic hypertrophy OMIM:608355|ICD10:Q87.2|UMLS:C0022739|UMLS:CN201567|EFO:0007334|NCIT:C84801|GARD:0003122|MedDRA:10051452|SCTID:721105004|DOID:2926|Orphanet:2346|OMIM:149000|MESH:D007715|Orphanet:90308 https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome owl:Class MONDO:0023099 biolink:NamedThing FRAXD syndrome tmpte7i6ely_mondo_relaxed.owl FRAXD GARD:0002377 https://rarediseases.info.nih.gov/diseases/2377/fraxd owl:Class MONDO:0010650 biolink:NamedThing Melnick-Needles syndrome Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. tmpte7i6ely_mondo_relaxed.owl osteodysplasty of Melnick and Needles|Melnick-Needles osteodysplasty|MNS|Melnick-Needles syndrome|MELNICK-NEEDLES syndrome Orphanet:2484|ICD9:756.59|SCTID:13449007|MedDRA:10060908|UMLS:C0025237|DOID:0111788|ICD10:Q77.8|OMIM:309350|GARD:0007011 https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome owl:Class UBERON:0008803 biolink:NamedThing skin of cheek tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:1000021 biolink:NamedThing skin of face tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006215 biolink:NamedThing rhombic lip tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25662 biolink:NamedThing AAGAB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001094 biolink:NamedThing sacral vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003828 biolink:NamedThing abdominal segment bone tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000443 biolink:NamedThing ciliary muscle cell A smooth muscle cell that is part of the ciliary body. tmpte7i6ely_mondo_relaxed.owl smooth muscle cell of ciliary body FMA:70610 cell owl:Class MONDO:0004190 biolink:NamedThing nephrogenic adenoma of urinary bladder A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. tmpte7i6ely_mondo_relaxed.owl nephrogenic adenoma of the urinary bladder|urinary bladder nephrogenic adenoma NCIT:C7415|UMLS:C1336892|DOID:7333 owl:Class UBERON:0003372 biolink:NamedThing pectoral appendage bud ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003260 biolink:NamedThing endoderm of hindgut tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0072376 biolink:NamedThing protein activation cascade A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. tmpte7i6ely_mondo_relaxed.owl protein activitory cascade|protein activation pathway owl:Class MONDO:0019891 biolink:NamedThing monosomy 22 tmpte7i6ely_mondo_relaxed.owl deletion 22|Del(22)|monosomy type 22 NCIT:C36461|UMLS:C0795878|ICD10:Q93.0|Orphanet:96123 owl:Class MONDO:0013801 biolink:NamedThing developmental and epileptic encephalopathy, 13 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene. tmpte7i6ely_mondo_relaxed.owl DEE13|SCN8A epilepsy|epileptic encephalopathy, early infantile, 13|EIEE13|early infantile epileptic encephalopathy-13|SCN8A encephalopathy|epileptic encephalopathy, early infantile, type 13|early infantile epileptic encephalopathy caused by mutation in SCN8A|SCN8A early infantile epileptic encephalopathy DOID:0080445|OMIM:614558|GARD:0013085|SCTID:765170001|UMLS:C3281191 owl:Class GO:0006885 biolink:NamedThing regulation of pH Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. tmpte7i6ely_mondo_relaxed.owl hydrogen ion homeostasis owl:Class GO:0055067 biolink:NamedThing monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005699 biolink:NamedThing cervicofacial actinomycosis A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. tmpte7i6ely_mondo_relaxed.owl cervicofacial actinomycotic infection|lumpy jaw NCIT:C34351|ICD10:A42.2|SCTID:23014006|ICD9:039.3|EFO:0007203|UMLS:C0001264|MESH:D000197 owl:Class GO:0008284 biolink:NamedThing positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation. tmpte7i6ely_mondo_relaxed.owl up-regulation of cell proliferation|positive regulation of cell proliferation|stimulation of cell proliferation|activation of cell proliferation|up regulation of cell proliferation|upregulation of cell proliferation owl:Class MONDO:0013931 biolink:NamedThing peroxisome biogenesis disorder 4B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder type 4B|non-classic peroxisome biogenesis disorder|PBD4B|peroxisome biogenesis disorder 4B OMIM:614863|UMLS:C3553937|Orphanet:772|NCIT:C155755|Orphanet:44 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100263 biolink:NamedThing peroxisome biogenesis disorder due to PEX6 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene. tmpte7i6ely_mondo_relaxed.owl PEX6 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX6 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0016070 biolink:NamedThing hereditary gingival fibromatosis Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. tmpte7i6ely_mondo_relaxed.owl autosomal dominant gingival fibromatosis|autosomal dominant gingival hyperplasia|hereditary gingival fibromatosis|hereditary gingival hyperplasia ICD10:K06.1|OMIM:605544|OMIM:611010|OMIMPS:135300|Orphanet:2024|SCTID:109620006|DOID:0060466|OMIM:135300|UMLS:C0399440|OMIM:609955 owl:Class HGNC:4455 biolink:NamedThing GPD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007272 biolink:NamedThing hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. tmpte7i6ely_mondo_relaxed.owl HCVAD|Carotenoids, plasma level of, quantitative trait locus 1|hypercarotenemia and vitamin A deficiency, autosomal dominant SCTID:726079008|MESH:C567296|OMIM:277350|Orphanet:199285|OMIM:115300|ICD10:E50.8 owl:Class MONDO:0012749 biolink:NamedThing mesomelic dysplasia, camera type tmpte7i6ely_mondo_relaxed.owl mesomelic dysplasia, camera type OMIM:611886|UMLS:C2678472|MESH:C567503 owl:Class HGNC:5004 biolink:NamedThing HMGB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014942 biolink:NamedThing developmental and epileptic encephalopathy, 45 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene. tmpte7i6ely_mondo_relaxed.owl DEE45|epileptic encephalopathy, early infantile, 45; EIEE45|epileptic encephalopathy, early infantile, 45|epileptic encephalopathy, early infantile, type 45|EIEE45|GABRB1 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in GABRB1 OMIM:617153|UMLS:C4310691|DOID:0080428 owl:Class MONDO:0005591 biolink:NamedThing pit and fissure surface dental caries tmpte7i6ely_mondo_relaxed.owl ICD9:521.06|EFO:0006338 owl:Class UBERON:0006563 biolink:NamedThing tunica media of pulmonary trunk tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007239 biolink:NamedThing tunica media of artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2494 biolink:NamedThing CTBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017909 biolink:NamedThing inherited glutathione synthetase deficiency Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. tmpte7i6ely_mondo_relaxed.owl rare inborn error of glutathione synthase activity|pyroglutamic aciduria|inborn error of glutathione synthase activity|oxoprolinase deficiency|inherited glutathione synthetase deficiency|glutathione synthetase deficiency|pyroglutamicaciduria|inborn glutathione synthase activity disorder|5-oxoprolinuria|GSSD OMIM:231900|Orphanet:32|UMLS:C0398746|OMIM:266130|NCIT:C128193|SCTID:234589002|ICD10:D55.1|GARD:0010047|MESH:C536835 owl:Class MONDO:0024626 biolink:NamedThing defective phagocytic cell engulfment tmpte7i6ely_mondo_relaxed.owl defective phagocytic cell killing SCTID:234585008|UMLS:C0398742 owl:Class MONDO:0018998 biolink:NamedThing Leber congenital amaurosis Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. tmpte7i6ely_mondo_relaxed.owl LCA|amaurosis congenita of Leber|Leber's congenital amaurosis|Leber congenital amaurosis|congenital retinal blindness|Leber's disease|Leber's congenital tapetoretinal degeneration|congenital absence of the rods and cones|Leber's amaurosis|Leber's congenital tapetoretinal dysplasia MESH:D057130|OMIM:613835|OMIM:613829|OMIM:614186|OMIM:608553|OMIM:604537|OMIM:610612|OMIM:204100|DOID:14791|OMIM:204000|SCTID:193413001|OMIM:604393|OMIM:615360|OMIM:604232|OMIM:613826|NCIT:C129075|OMIM:613837|Orphanet:65|OMIM:612712|OMIM:613341|OMIM:613843|OMIMPS:204000|OMIM:611755|OMIM:179900|ICD10:H35.5|GARD:0000634|UMLS:C0339527|MedDRA:10070667 owl:Class MONDO:0016554 biolink:NamedThing neonatal iodine exposure Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates. tmpte7i6ely_mondo_relaxed.owl iodine antenatal exposure GARD:0003025|UMLS:CN226956|ICD10:P72.2|Orphanet:238688 owl:Class MONDO:0016556 biolink:NamedThing transient congenital hypothyroidism due to neonatal factor tmpte7i6ely_mondo_relaxed.owl Orphanet:238699|ICD10:P72.2 owl:Class UBERON:0010329 biolink:NamedThing paired limb/fin bud mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010377 biolink:NamedThing mesenchyme from somatopleure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009623 biolink:NamedThing Nijmegen breakage syndrome Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. tmpte7i6ely_mondo_relaxed.owl ataxia-telangiectasia variant V2|Seemanova syndrome|ataxia-telangiectasia variant V1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|Seemanova syndrome type 2|Nonsyndromal microcephaly autosomal recessive with normal intelligence|ataxia-telangiectasia, variant 1|Seemanova syndrome 2|Berlin breakage syndrome|immunodeficiency, microcephaly, and chromosomal instability|AT V1|microcephaly, normal intelligence and immunodeficiency|NBs|immunodeficiency-microcephaly-chromosomal instability syndrome|Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|microcephaly immunodeficiency lymphoreticuloma|microcephaly-immunodeficiency-lymphoreticuloma syndrome|Nijmegen breakage syndrome Orphanet:647|ICD10:Q87.8|MESH:D049932|DOID:7400|OMIM:251260|MedDRA:10067857|UMLS:C0398791|GARD:0003904|SCTID:234638009|NCIT:C4692|UMLS:CN860323 https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome owl:Class MONDO:0021179 biolink:NamedThing proteostasis deficiencies Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. tmpte7i6ely_mondo_relaxed.owl Protein folding disorders|folding disease, Protein|deficiency, Proteostasis|Protein folding disorder|dysfunctions, Proteostasis|Protein folding diseases|disorders, Protein Misfolding|proteopathy|disease, Protein Misfolding|deficiencies, Proteostasis|Misfolding disease, Protein|proteopathic disease|diseases, Protein Misfolding|disorder, Protein folding|disease, Protein folding|Proteostasis dysfunctions|Protein Misfolding disease|folding disorder, Protein|Proteostasis deficiency|dysfunction, Proteostasis|Misfolding disorder, Protein|Protein Misfolding diseases|Protein Misfolding disorders|Protein Misfolding disorder|Misfolding diseases, Protein|Misfolding disorders, Protein|diseases, Protein folding|disorders, Protein folding|folding diseases, Protein|folding disorders, Protein|disorder, Protein Misfolding|proteinopathy|Protein folding disease|Proteostasis dysfunction MESH:D057165|UMLS:C2718001 owl:Class CHEBI:23924 biolink:NamedThing enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. tmpte7i6ely_mondo_relaxed.owl inhibidor enzimatico|enzyme inhibitors|inhibiteur enzymatique|inhibidores enzimaticos|enzyme inhibitor|inhibiteurs enzymatiques owl:Class CHEBI:35222 biolink:NamedThing inhibitor A substance that diminishes the rate of a chemical reaction. tmpte7i6ely_mondo_relaxed.owl inhibitor|inhibidor|inhibiteur|inhibitors owl:Class MONDO:0018532 biolink:NamedThing adenocarcinoma of liver and intrahepatic biliary tract tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the liver and IBT|adenocarcinoma of liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract Orphanet:424943|UMLS:CN242181|ICD10:C22.0|ICD10:C22.1 owl:Class MONDO:0024477 biolink:NamedThing liver and intrahepatic bile duct neoplasm A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. tmpte7i6ely_mondo_relaxed.owl liver and intrahepatic bile duct neoplasm|hepatic and intrahepatic bile duct neoplasm NCIT:C7103|UMLS:C1333976 owl:Class HP:0000008 biolink:NamedThing Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. tmpte7i6ely_mondo_relaxed.owl Abnormality of female internal genitalia UMLS:C4025900 human_phenotype owl:Class MONDO:0017651 biolink:NamedThing primary myoclonus tmpte7i6ely_mondo_relaxed.owl Orphanet:306750 owl:Class UBERON:0003134 biolink:NamedThing female reproductive organ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003133 biolink:NamedThing reproductive organ tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11824 biolink:NamedThing TINF2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002821 biolink:NamedThing positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. tmpte7i6ely_mondo_relaxed.owl up-regulation of adaptive immune response|up regulation of adaptive immune response|activation of adaptive immune response|upregulation of adaptive immune response|stimulation of adaptive immune response owl:Class MONDO:0009446 biolink:NamedThing ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl ichthyosis, mental retardation, dwarfism and renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|ichthyosis intellectual deficit dwarfism renal impairment|ichthyosis, intellectual disability, dwarfism, and renal impairment|Passwell-Goodman-Siprkowski syndrome|ichthyosis, intellectual disability, dwarfism and renal impairment MESH:C536274|Orphanet:2278|OMIM:242530|GARD:0004641|UMLS:C1855787 owl:Class MONDO:0014824 biolink:NamedThing craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl developmental delay-short stature-dysmorphic features-sparse hair syndrome|DEDSSH|Loucks-Innes syndrome|developmental delay with short stature, dysmorphic features, and sparse hair Orphanet:459061|OMIM:616901|UMLS:C4310801 owl:Class HGNC:10588 biolink:NamedThing SCN2A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015106 biolink:NamedThing bicarbonate transmembrane transporter activity Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008514 biolink:NamedThing organic anion transmembrane transporter activity Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002659 biolink:NamedThing uveal cancer A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris. tmpte7i6ely_mondo_relaxed.owl uvea cancer|malignant neoplasm of uvea|malignant uvea neoplasm|cancer of uvea|malignant tumor of uvea|malignant uveal tumor|malignant uveal neoplasm|uveal tumor|malignant uvea tumor|malignant neoplasm of the uvea|malignant tumor of the uvea NCIT:C6105|UMLS:C1334629|EFO:1001230|DOID:3479|NCIT:C3436|UMLS:C0042162 owl:Class MONDO:0021225 biolink:NamedThing uvea neoplasm A neoplasm (disease) that involves the uvea. tmpte7i6ely_mondo_relaxed.owl tumor of uvea|uvea tumor|uvea neoplasm (disease)|neoplasm of uvea|uveal neoplasm|neoplasm of the uvea|uveal tumor|tumor of the uvea UMLS:C0042162|NCIT:C3436 owl:Class MONDO:0001994 biolink:NamedThing sphenoidal sinus cancer A malignant neoplasm involving the sphenoidal sinus. tmpte7i6ely_mondo_relaxed.owl malignant sphenoid sinus tumor|malignant sphenoid sinus neoplasm|malignant neoplasm of sphenoidal sinus|malignant neoplasm of the sphenoidal sinus|malignant tumor of sphenoidal sinus|malignant sphenoidal sinus tumor|malignant neoplasm of sphenoid sinus|cancer of sphenoidal sinus|malignant tumor of sphenoid sinus|malignant tumor of the sphenoid sinus|sphenoidal sinus cancer|malignant neoplasm of the sphenoid sinus|malignant sphenoidal sinus neoplasm|malignant tumor of the sphenoidal sinus ICD10:C31.3|NCIT:C3543|ICD9:160.5|SCTID:363428005|DOID:14546|UMLS:C0153479 owl:Class CL:0002571 biolink:NamedThing hepatic mesenchymal stem cell A mesenchymal stem cell of liver. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-01T09:58:51Z cell owl:Class CL:0002195 biolink:NamedThing hepatic stem cell A stem cell that can give rise to the cells of the liver. tmpte7i6ely_mondo_relaxed.owl FMA:86577 tmeehan 2010-08-30T02:00:42Z cell owl:Class MONDO:0017493 biolink:NamedThing fibular hemimelia, bilateral tmpte7i6ely_mondo_relaxed.owl fibular longitudinal meromelia, bilateral Orphanet:295083|ICD10:Q72.6 owl:Class MONDO:0019672 biolink:NamedThing fibular hemimelia Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. tmpte7i6ely_mondo_relaxed.owl fibular longitudinal meromelia|congenital longitudinal deficiency of the fibula Orphanet:93323|ICD10:Q72.6 owl:Class MONDO:0010493 biolink:NamedThing Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. tmpte7i6ely_mondo_relaxed.owl DBA14|Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|Diamond-Blackfan anemia caused by mutation in TSR2|TSR2 Diamond-Blackfan anemia OMIM:300946|UMLS:C4225422 owl:Class ENVO:01001620 biolink:NamedThing mass of ice and snow A object which is composed primarily of water-based snow and ice. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000293 biolink:NamedThing ice mass A mass of water ice. tmpte7i6ely_mondo_relaxed.owl ice accumulation|accumulation of ice owl:Class GO:0010927 biolink:NamedThing cellular component assembly involved in morphogenesis The cellular component assembly that is part of the initial shaping of the component during its developmental progression. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003601 biolink:NamedThing neck cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013316 biolink:NamedThing occult macular dystrophy Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. tmpte7i6ely_mondo_relaxed.owl occult macular dystrophy|Omd|OMD|OCMD DOID:0050578|ICD10:H35.5|OMIM:613587|UMLS:C3150833|Orphanet:247834 owl:Class MONDO:0014171 biolink:NamedThing complex cortical dysplasia with other brain malformations 4 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. tmpte7i6ely_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations 4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|complex cortical dysplasia with other brain malformations type 4|cortical dysplasia, Complex, with Other brain malformations type 4|CDCBM4|TUBG1 complex cortical dysplasia with other brain malformations OMIM:615412|UMLS:C3809420|DOID:0090138 owl:Class MONDO:0000904 biolink:NamedThing complex cortical dysplasia with other brain malformations tmpte7i6ely_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations|CDCBM|complex cortical dysplasia with other brain malformations DOID:0090131|UMLS:CN228165|OMIMPS:614039 owl:Class MONDO:0015441 biolink:NamedThing ring chromosome 7 Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). tmpte7i6ely_mondo_relaxed.owl Ring 7|rose cluster 7|Ring chromosome 7 syndrome|R7|Ring chromosome type 7|chromosome 7 ring GARD:0001345|MESH:C537813|ICD10:Q93.2|NCIT:C121986|SCTID:765489006|Orphanet:1449 https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7 owl:Class MONDO:0700014 biolink:NamedThing chromosome 7 disorder Chromosomal disorder in which chromosome 7 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class GO:0010906 biolink:NamedThing regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpte7i6ely_mondo_relaxed.owl regulation of glucose metabolism owl:Class GO:0010675 biolink:NamedThing regulation of cellular carbohydrate metabolic process Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000123 biolink:NamedThing metanephric nephron tubule epithelial cell tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2188 biolink:NamedThing COL12A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:65001 biolink:NamedThing EC 3.1.1.3 (triacylglycerol lipase) inhibitor Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3). tmpte7i6ely_mondo_relaxed.owl heparin releasable hepatic lipase inhibitors|glycerol-ester hydrolase inhibitor|butyrinase inhibitor|Tweenase inhibitors|triglyceridase inhibitor|tween-hydrolyzing esterase inhibitors|triglyceride hydrolase inhibitors|glycerol ester hydrolase inhibitors|hepatic monoacylglycerol acyltransferase inhibitors|liver lipase inhibitor|triacetinase inhibitors|PPL inhibitors|triolein hydrolase inhibitor|lipazin inhibitor|triacylglycerol ester hydrolase inhibitor|Tweenesterase inhibitors|salt-resistant post-heparin lipase inhibitors|pancreatic lipase inhibitor|EC 3.1.1.3 inhibitors|triglyceride lipase inhibitors|hepatic lipase inhibitors|triacylglycerol ester hydrolase inhibitors|heparin releasable hepatic lipase inhibitor|PPL inhibitor|tributyrinase inhibitors|triglyceride lipase inhibitor|salt-resistant post-heparin lipase inhibitor|tributyrin esterase inhibitor|capalase L inhibitors|glycerol ester hydrolase inhibitor|Tween hydrolase inhibitor|hepatic lipase inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitor|lipase inhibitors|liver lipase inhibitors|hepatic monoacylglycerol acyltransferase inhibitor|triglyceride hydrolase inhibitor|cacordase inhibitors|glycerol-ester hydrolase inhibitors|steapsin inhibitor|tributyrinase inhibitor|EC 3.1.1.3 (triacylglycerol lipase) inhibitors|steapsin inhibitors|GEH inhibitors|triacetinase inhibitor|triacylglycerol lipase inhibitors|triglyceridase inhibitors|Tween hydrolase inhibitors|tween-hydrolysing esterase inhibitor|Tweenesterase inhibitor|Tweenase inhibitor|triacylglycerol lipase inhibitor|capalase L inhibitor|pancreatic triacylglycerol lipase inhibitors|cacordase inhibitor|triolein hydrolase inhibitors|pancreatic lipase inhibitors|pancreatic triacylglycerol lipase inhibitor|GEH inhibitor|EC 3.1.1.3 inhibitor|tributyrin esterase inhibitors|butyrinase inhibitors|tributyrase inhibitors|post-heparin plasma protamine-resistant lipase inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitors|tributyrase inhibitor|lipase inhibitor|lipazin inhibitors|post-heparin plasma protamine-resistant lipase inhibitors owl:Class CHEBI:76773 biolink:NamedThing EC 3.1.1.* (carboxylic ester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*). tmpte7i6ely_mondo_relaxed.owl carboxylic ester hydrolase (EC 3.1.1.*) inhibitors|EC 3.1.1.* inhibitors|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|EC 3.1.1.* inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor owl:Class MONDO:0006284 biolink:NamedThing major salivary gland carcinoma A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland. tmpte7i6ely_mondo_relaxed.owl major salivary gland cancer|carcinoma of Major salivary gland|carcinoma of major salivary gland|carcinoma of the Major salivary gland|major salivary gland carcinoma EFO:1000344|NCIT:C5907|UMLS:C1334549 owl:Class NCBITaxon:12089 biolink:NamedThing Coxsackievirus A24 tmpte7i6ely_mondo_relaxed.owl Human coxsackievirus A24|CV-A24|Coxsackievirus A-24|Human enterovirus CVA24 GC_ID:1 ncbi_taxonomy owl:Class UBERON:0015717 biolink:NamedThing smooth muscle tissue layer of ejaculatory duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011136 biolink:NamedThing ligament of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024608 biolink:NamedThing dientamoebiasis Gastrointestinal infection with organisms of the genus dientamoeba. tmpte7i6ely_mondo_relaxed.owl Dientamoeba caused disease or disorder|Dientamoeba disease or disorder|intestinal trichomoniasis|Dientamoebiases|Dientamoeba infectious disease MESH:D004030|SCTID:67915005|DOID:946 owl:Class MONDO:0025513 biolink:NamedThing autoimmune urticaria An autoimmune form of urticaria (disease). tmpte7i6ely_mondo_relaxed.owl autoimmune urticaria|autoimmune urticaria (disease) UMLS:C1304191|SCTID:402397006|ICD9:708.8 owl:Class MONDO:0005492 biolink:NamedThing urticaria A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. tmpte7i6ely_mondo_relaxed.owl urticaria|urticaria (disease)|Urticarias|hives urticaria (disease) NCIT:C3432|HP:0001025|ICD9:708|ICD9:708.8|SCTID:126485001|ICD10:L50|MESH:D014581|EFO:0005531|DOID:1555|UMLS:C0042109|ICD9:708.9 owl:Class GO:0098642 biolink:NamedThing network-forming collagen trimer A collagen trimer that forms networks. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005581 biolink:NamedThing collagen trimer A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004248 biolink:NamedThing pediatric infratentorial ependymoma An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl infratentorial ependymoma|childhood infratentorial ependymoma|pediatric infratentorial ependymoma DOID:7501|UMLS:C0278599|NCIT:C9041 owl:Class MONDO:0003876 biolink:NamedThing eyelid carcinoma A carcinoma that arises from epithelial cells of the eyelid. tmpte7i6ely_mondo_relaxed.owl carcinoma of the eyelid|carcinoma of eyelid|eyelid carcinoma NCIT:C6078|DOID:6425|UMLS:C0920196 owl:Class MONDO:0021313 biolink:NamedThing eyelid cancer A cancer that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl cancer of eyelid|malignant eyelid tumor|malignant tumor of the eyelid|malignant tumor of eyelid|malignant eyelid neoplasm|malignant neoplasm of eyelid|malignant neoplasm of the eyelid|eyelid cancer NCIT:C6786|SCTID:231829006|ICD9:173.1 owl:Class GO:0034767 biolink:NamedThing positive regulation of ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl stimulation of transmembrane ion transport|activation of transmembrane ion transport|positive regulation of transmembrane ion transport|up regulation of transmembrane ion transport|positive regulation of ion membrane transport|upregulation of transmembrane ion transport|up-regulation of transmembrane ion transport owl:Class UBERON:0001143 biolink:NamedThing hepatic vein tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006094 biolink:NamedThing gluconeogenesis The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpte7i6ely_mondo_relaxed.owl glucose biosynthesis|glucose biosynthetic process owl:Class GO:0006006 biolink:NamedThing glucose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. tmpte7i6ely_mondo_relaxed.owl cellular glucose metabolic process|glucose metabolism owl:Class MONDO:0008536 biolink:NamedThing temperature-sensitive lethal mutation tmpte7i6ely_mondo_relaxed.owl temperature-sensitive lethal mutation OMIM:187340 owl:Class MONDO:0022529 biolink:NamedThing BK-virus nephropathy tmpte7i6ely_mondo_relaxed.owl nephropathy caused by BK polyomavirus|Polyomavirus nephropathy|kidney disease caused by BK polyomavirus|nephropathy from BK virus|BK virus nephropathy|polyomavirus associated nephropathy|BKN|PVAN GARD:0010470|DOID:0040086|ICD9:079.89|UMLS:C1697878|SCTID:713886006 owl:Class MONDO:0005784 biolink:NamedThing hantavirus hemorrhagic fever with renal syndrome A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. tmpte7i6ely_mondo_relaxed.owl HFRS|Puumala virus nephropathy|hemorrhagic nephrosonephritis|hemorrhagic fever, Russian|hemorrhagic fever with renal syndrome EFO:0007299|NCIT:C84753|ICD10:A98.5|DOID:11266|ICD9:078.6|SCTID:102455002 owl:Class MONDO:0002481 biolink:NamedThing ovarian neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. tmpte7i6ely_mondo_relaxed.owl ovary neuroendocrine tumor|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine tumor of ovary|ovarian neuroendocrine neoplasm|neuroendocrine neoplasm of the ovary|ovary NET|ovary neuroendocrine neoplasm|neuroendocrine neoplasm of ovary NCIT:C5237|UMLS:C1335172|DOID:3002 owl:Class GO:0070131 biolink:NamedThing positive regulation of mitochondrial translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl positive regulation of mitochondrial protein formation|positive regulation of mitochondrial protein anabolism|positive regulation of mitochondrial protein biosynthesis|positive regulation of mitochondrial protein synthesis owl:Class MONDO:0010069 biolink:NamedThing spondylocostal dysostosis-anal and genitourinary malformations syndrome Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl spondylocostal dysostosis with anal atresia and urogenital anomalies|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|Casamassima-Morton-Nance syndrome|CMn syndrome UMLS:C1849069|MESH:C564799|Orphanet:94095|ICD10:Q87.8|OMIM:271520 owl:Class UBERON:0001490 biolink:NamedThing elbow joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003839 biolink:NamedThing forelimb joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011200 biolink:NamedThing sacrococcygeal symphysis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000145 biolink:NamedThing regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility. tmpte7i6ely_mondo_relaxed.owl regulation of movement of a cell|regulation of cell movement|regulation of cell locomotion owl:Class NBO:0000355 biolink:NamedThing posture "Intentionally or habitually assumed arrangement of the body and its limbs." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000317 biolink:NamedThing vestibular behavior "Behavior related to the awareness of body balance and movement." [MBP:GVG] tmpte7i6ely_mondo_relaxed.owl proprioception owl:Class NCBITaxon:745 biolink:NamedThing Pasteurella tmpte7i6ely_mondo_relaxed.owl PMID:1736960|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:712 biolink:NamedThing Pasteurellaceae tmpte7i6ely_mondo_relaxed.owl PMID:10843050|PMID:17220461|GC_ID:11|PMID:2223605|PMID:15280320|PMID:29923825|PMID:15388716 ncbi_taxonomy owl:Class MONDO:0008003 biolink:NamedThing autosomal dominant progressive external ophthalmoplegia Autosomal dominant form of progressive external ophthalmoplegia. tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|PEOA1|progressive external ophthalmoplegia, autosomal dominant|adPEO OMIM:609286|UMLS:CN202062|OMIM:610131|ICD10:H49.4|Orphanet:254892|OMIM:609283|OMIM:613077|OMIM:157640|MESH:C563575 owl:Class MONDO:0005181 biolink:NamedThing progressive external ophthalmoplegia A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) tmpte7i6ely_mondo_relaxed.owl chronic progressive external ophthalmoplegia [ambiguous]|chronic progressive external ophthalmoplegia|progressive external ophthalmoplegia SCTID:46252003|MESH:D017246|EFO:0002509|ICD10:H49.4|Orphanet:520820|GARD:0004503|HP:0000590|DOID:12558|ICD9:378.72 owl:Class MONDO:0022471 biolink:NamedThing childhood aortic valve stenosis tmpte7i6ely_mondo_relaxed.owl aortic valves stenosis of the child GARD:0000744 https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child owl:Class MONDO:0042981 biolink:NamedThing aortic valve stenosis tmpte7i6ely_mondo_relaxed.owl aortic stenosis|stenosed aortic valve|aortic valve stenosis|valvular aortic stenosis SCTID:60573004|HP:0001650|GARD:0005830 owl:Class UBERON:0003569 biolink:NamedThing leg connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007625 biolink:NamedThing pigment epithelium of eye tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0009118 biolink:NamedThing Aplasia/Hypoplasia of the mandible Absence or underdevelopment of the mandible. tmpte7i6ely_mondo_relaxed.owl UMLS:C3494426|MSH:D063173|UMLS:C4024589|UMLS:C4280261|UMLS:C4021371|UMLS:C4280401 2008-04-05T10:57:00Z human_phenotype owl:Class HP:0009116 biolink:NamedThing Aplasia/Hypoplasia involving bones of the skull tmpte7i6ely_mondo_relaxed.owl UMLS:C4024591 peter 2008-04-05T10:53:00Z human_phenotype owl:Class MONDO:0011152 biolink:NamedThing PHGDH deficiency 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form tmpte7i6ely_mondo_relaxed.owl PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHGDH deficiency Orphanet:79351|DOID:0050722|OMIM:601815|UMLS:C1866174|MESH:C566618|ICD10:E72.8|UMLS:C0580190 owl:Class CHEBI:76738 biolink:NamedThing EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*). tmpte7i6ely_mondo_relaxed.owl EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitor|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitor|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* inhibitor owl:Class NCBITaxon:157540 biolink:NamedThing Zygodontomys tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006551 biolink:NamedThing alopecia mucinosa A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl alopecia Mucinosa|hair follicle cutaneous focal mucinosis|alopecia mucinosis|cutaneous focal mucinosis of hair follicle|alopecia mucinosa|follicular mucinosis PMID:24350019|UMLS:C0002173|ICD9:704.09|DOID:9905|ICD10:L65.2|SCTID:27382006|MESH:D000507|NCIT:C82859|EFO:1000701 owl:Class MONDO:0019286 biolink:NamedThing sebaceous gland anomaly A epidermal appendage anomaly that involves the sebaceous gland. tmpte7i6ely_mondo_relaxed.owl epidermal appendage anomaly of sebaceous gland|sebaceous gland epidermal appendage anomaly Orphanet:79372 owl:Class MONDO:0010188 biolink:NamedThing familial isolated deficiency of vitamin E Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. tmpte7i6ely_mondo_relaxed.owl Friedreich-like ataxia with selective vitamin E deficiency|Friedreich-like ataxia|vitamin E, familial isolated deficiency OF|familial isolated vitamin E deficiency|ataxia, Friedreich-like, with selective vitamin E deficiency|familial isolated deficiency of vitamin type E|AVED|ataxia with vitamin E deficiency|VED|isolated vitamin E deficiency|ataxia with isolated vitamin E deficiency Orphanet:96|MedDRA:10047631|ICD9:334.3|MESH:C535393|OMIM:277460|ICD10:G11.1|ICD9:269.1|GARD:0008595|SCTID:702442008|DOID:0090028 owl:Class MONDO:0020044 biolink:NamedThing autosomal recessive metabolic cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl UMLS:CN229258|Orphanet:98096 owl:Class GO:0002685 biolink:NamedThing regulation of leukocyte migration Any process that modulates the frequency, rate, or extent of leukocyte migration. tmpte7i6ely_mondo_relaxed.owl regulation of immune cell migration|regulation of leucocyte migration owl:Class GO:1903037 biolink:NamedThing regulation of leukocyte cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. tmpte7i6ely_mondo_relaxed.owl regulation of leukocyte cell adhesion|regulation of leukocyte adhesion owl:Class GO:0045727 biolink:NamedThing positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein synthesis|up regulation of protein biosynthetic process|up-regulation of protein biosynthetic process|positive regulation of protein anabolism|positive regulation of protein biosynthesis|positive regulation of protein biosynthetic process|positive regulation of protein formation|stimulation of protein biosynthetic process|upregulation of protein biosynthetic process|activation of protein biosynthetic process owl:Class UBERON:0010364 biolink:NamedThing dermal skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012432 biolink:NamedThing Joubert syndrome 5 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome caused by mutation in CEP290|JBTS5|CEP290 Joubert syndrome|Joubert syndrome 5|Joubert syndrome type 5 Orphanet:2318|DOID:0111000|OMIM:610188|UMLS:C1857780|MESH:C537688 owl:Class UBERON:0003963 biolink:NamedThing otic ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003991 biolink:NamedThing villoglandular endometrial endometrioid adenocarcinoma A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells. tmpte7i6ely_mondo_relaxed.owl villoglandular endometrial endometrioid adenocarcinoma DOID:6777|NCIT:C27846|UMLS:C1336962 owl:Class MONDO:0003204 biolink:NamedThing villous adenocarcinoma An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma. tmpte7i6ely_mondo_relaxed.owl villous adenocarcinoma|villous adenocarcinoma (morphologic abnormality) ICDO:8262/3|UMLS:C0334306|DOID:4917|NCIT:C4142 owl:Class CHEBI:64459 biolink:NamedThing biaryl An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond. tmpte7i6ely_mondo_relaxed.owl biaryls owl:Class MONDO:0002321 biolink:NamedThing sensory peripheral neuropathy Inflammation or degeneration of the sensory nerves. tmpte7i6ely_mondo_relaxed.owl peripheral sensory neuropathy|peripheral neuropathy of sensory nerve|sensory neuropathy|sensory nerve peripheral neuropathy NCIT:C3501|ICD9:356.2|DOID:2491|MESH:D009477|SCTID:11442006|ICD9:356.9|SCTID:95662005|UMLS:C0151313 owl:Class MONDO:0007483 biolink:NamedThing dyschromatosis symmetrica hereditaria Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. tmpte7i6ely_mondo_relaxed.owl familial reticulate acropigmentation of Dohi|DSH1|dyschromatosis symmetrica hereditaria|DSH|reticulate acropigmentation of Dohi|symmetric dyschromatosis of the extremities|RAD|acropigmentation of Dohi|dyschromatosis symmetrica hereditaria 1 MESH:C535729|GARD:0000334|UMLS:C0406775|Orphanet:41|NCIT:C118435|SCTID:239085000|DOID:0060257|OMIM:127400|EFO:0008878|ICD10:L81.8 owl:Class MONDO:0025095 biolink:NamedThing malaria, avian Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria. tmpte7i6ely_mondo_relaxed.owl Avian Malarias|Avian malaria|Malarias, Avian MESH:D008289|UMLS:C0024533 owl:Class MONDO:0024905 biolink:NamedThing bird disease Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc. tmpte7i6ely_mondo_relaxed.owl diseases, Avian|bird disease|Avian disease|disease, Avian|diseases, Bird|Avian diseases|disease, Bird UMLS:C0005591|MESH:D001715 owl:Class MONDO:0007305 biolink:NamedThing cervical vertebral dysplasia tmpte7i6ely_mondo_relaxed.owl cervical vertebral dysplasia|cervical vertebral dysplasia (disease) cervical vertebral dysplasia (disease) HP:0008469|OMIM:118005|MESH:C566140|UMLS:C1861693 owl:Class MONDO:0004253 biolink:NamedThing intraductal breast papillomatosis A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts. tmpte7i6ely_mondo_relaxed.owl breast intraductal papillomatosis|intraductal papillomatosis of breast|intraductal papillomatosis of the breast|intraductal breast papillomatosis UMLS:C1334247|NCIT:C5201|DOID:7511 owl:Class MONDO:0002063 biolink:NamedThing breast papillomatosis A benign breast neoplasm characterized by the proliferation of multiple papillomas. tmpte7i6ely_mondo_relaxed.owl breast papillomatosis|papillomatosis of the breast|papillomatosis of breast UMLS:C1332636|DOID:1634|NCIT:C6977 owl:Class GO:0034097 biolink:NamedThing response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpte7i6ely_mondo_relaxed.owl response to cytokine stimulus owl:Class MONDO:0004351 biolink:NamedThing intraocular lymphoma A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters. tmpte7i6ely_mondo_relaxed.owl PIOL|intraocular lymphoma|primary intraocular lymphoma|primary intraocular non-Hodgkin's lymphoma ICD10:C85,7|SCTID:420788006|Orphanet:279904|NCIT:C9184|ICD9:200.50|DOID:775|MESH:D064090 MONDO:0017206 owl:Class UBERON:0003073 biolink:NamedThing lens placode tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051494 biolink:NamedThing negative regulation of cytoskeleton organization Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpte7i6ely_mondo_relaxed.owl down-regulation of cytoskeleton organization|downregulation of cytoskeleton organization|negative regulation of cytoskeleton organization and biogenesis|down regulation of cytoskeleton organization|negative regulation of cytoskeleton organisation|inhibition of cytoskeleton organization owl:Class GO:0051493 biolink:NamedThing regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpte7i6ely_mondo_relaxed.owl regulation of cytoskeleton organisation|regulation of cytoskeleton organization and biogenesis owl:Class GO:0010890 biolink:NamedThing positive regulation of sequestering of triglyceride Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpte7i6ely_mondo_relaxed.owl positive regulation of sequestering of triacylglycerol|positive regulation of triglyceride sequestration owl:Class GO:0010889 biolink:NamedThing regulation of sequestering of triglyceride Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpte7i6ely_mondo_relaxed.owl regulation of sequestering of triacylglycerol|regulation of triacylglycerol sequestration owl:Class MONDO:0013170 biolink:NamedThing cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13 tmpte7i6ely_mondo_relaxed.owl autosomal recessive cutis laxa type 1C|cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|cutis laxa, autosomal recessive, type 1C|cutis laxa, autosomal recessive, type IC|ARCL1C|autosomal recessive cutis laxa type IC|Urban-Rifkin-Davis syndrome DOID:0070139|OMIM:613177|MESH:C567716|PMID:19836010|ICD10:Q82.8|Orphanet:221145|UMLS:C2750804 owl:Class SO:0000460 biolink:NamedThing vertebrate_immunoglobulin_T_cell_receptor_segment Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor. tmpte7i6ely_mondo_relaxed.owl vertebrate_immunoglobulin/T-cell receptor gene|vertebrate immunoglobulin T cell receptor segment owl:Class SO:0000301 biolink:NamedThing vertebrate_immune_system_gene_recombination_feature A feature where recombination has occurred for the purpose of generating a diversity in the immune system. tmpte7i6ely_mondo_relaxed.owl vertebrate immune system gene recombination feature owl:Class MONDO:0007105 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene. tmpte7i6ely_mondo_relaxed.owl FTDALS1|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|ALSFTD|C9ORF72 frontotemporal dementia with motor neuron disease|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72|FTDMND|C9orf72 frontotemporal dementia with motor neuron disease|amyotrophic lateral sclerosis and/or frontotemporal dementia|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|frontotemporal dementia and/or motor neuron disease|frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550|UMLS:C1862937|UMLS:C3888102|Orphanet:275872|DOID:0060213 owl:Class MONDO:0017869 biolink:NamedThing chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. tmpte7i6ely_mondo_relaxed.owl ICD10:Q77.6|Orphanet:319195 owl:Class CL:0002577 biolink:NamedThing placental epithelial cell An epithelial cell of the placenta. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-02T03:21:30Z cell owl:Class UBERON:0000976 biolink:NamedThing humerus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003461 biolink:NamedThing shoulder bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003278 biolink:NamedThing skeleton of lower jaw tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098796 biolink:NamedThing membrane protein complex Any protein complex that is part of a membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013328 biolink:NamedThing retinitis pigmentosa 58 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 58|RP58|ZNF513 retinitis pigmentosa|retinitis pigmentosa caused by mutation in ZNF513|retinitis pigmentosa 58 ICD10:H35.5|OMIM:613617|UMLS:C3150879|DOID:0110362 owl:Class MONDO:0017807 biolink:NamedThing growing teratoma syndrome A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment. tmpte7i6ely_mondo_relaxed.owl GTS Orphanet:314613|UMLS:CN203773|NCIT:C118370|UMLS:C3891714 owl:Class MONDO:0000421 biolink:NamedThing inborn serine deficiency An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process. tmpte7i6ely_mondo_relaxed.owl rare inborn error of L-serine biosynthetic process|inborn error of L-serine biosynthetic process|inborn L-serine biosynthetic process disorder DOID:0050721 owl:Class MONDO:0005482 biolink:NamedThing molar-incisor hypomineralization A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors tmpte7i6ely_mondo_relaxed.owl ICD9:520.5|SCTID:698053001|EFO:0005321 owl:Class HP:0040126 biolink:NamedThing Abnormal vitamin B12 level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. tmpte7i6ely_mondo_relaxed.owl Abnormal serum cobalamin level UMLS:C4021032 HPO:skoehler human_phenotype owl:Class HP:0004341 biolink:NamedThing Abnormality of vitamin B12 metabolism tmpte7i6ely_mondo_relaxed.owl Abnormality of the vitamin B12 metabolism UMLS:C4021658 peter 2008-03-08T08:09:00Z human_phenotype owl:Class SO:0001785 biolink:NamedThing structural_alteration An alteration of the genome that leads to a change in the structure of one or more chromosomes. tmpte7i6ely_mondo_relaxed.owl structural alteration owl:Class UBERON:0006526 biolink:NamedThing right lung alveolar system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024556 biolink:NamedThing epilepsy, familial focal, with variable foci 1 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene. tmpte7i6ely_mondo_relaxed.owl FFEVF1|epilepsy, partial, with variable foci|DEPDC5 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci caused by mutation in DEPDC5|epilepsy, familial focal, with variable foci 1|epilepsy, familial focal, with variable foci Orphanet:98820|UMLS:C1858477|NCIT:C161005|OMIM:604364 owl:Class MONDO:0020310 biolink:NamedThing familial focal epilepsy with variable foci Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. tmpte7i6ely_mondo_relaxed.owl FFEVF|familial focal epilepsy with variable foci|familial partial epilepsy with variable foci|epilepsy, familial focal, with variable foci OMIM:617118|OMIMPS:604364|MESH:C565785|SCTID:764522009|Orphanet:98820|UMLS:CN207131|OMIM:604364|OMIM:617116|GARD:0013295 owl:Class CL:0010008 biolink:NamedThing cardiac endothelial cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001073 biolink:NamedThing idiopathic progressive polyneuropathy tmpte7i6ely_mondo_relaxed.owl DOID:10593|ICD9:356.4|UMLS:C0154756|SCTID:33209009 owl:Class UBERON:0010742 biolink:NamedThing bone of pelvic complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018943 biolink:NamedThing myofibrillar myopathy Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. tmpte7i6ely_mondo_relaxed.owl Zaspopathy (type)|myotilinopathy (type)|Alpha Beta crystallinopathy (type)|desmin storage myopathy (former name)|filaminopathy (type)|Protein surplus myopathy (former name)|desmin related myopathy (former name)|myofibrillar myopathies|myofibrillar myopathy|myofibrillar myopathy (disease)|Desminopathy (type) myofibrillar myopathy (disease) UMLS:C2678065|NCIT:C83009|SCTID:699269005|OMIMPS:601419|GARD:0010529|Orphanet:593|ICD10:G71.8|ICD9:359.89|MESH:C580316|HP:0003715|DOID:0080307 owl:Class MONDO:0002921 biolink:NamedThing congenital structural myopathy A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. tmpte7i6ely_mondo_relaxed.owl centronuclear myopathy DOID:422|UMLS:C0752282|MESH:D020914|NCIT:C84648 owl:Class GO:0035936 biolink:NamedThing testosterone secretion The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010078 biolink:NamedThing spondyloperipheral dysplasia-short ulna syndrome An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia. tmpte7i6ely_mondo_relaxed.owl spondyloperipheral dysplasia with short ulna|spondyloperipheral dysplasia ICD10:Q77.7|MESH:C535799|Orphanet:1856|GARD:0004994|SCTID:702339001|ICD9:758.89|UMLS:C0796173|OMIM:271700|NCIT:C135088 owl:Class UBERON:0003988 biolink:NamedThing thymus corticomedullary boundary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009151 biolink:NamedThing cleft lip/palate-ectodermal dysplasia syndrome An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. tmpte7i6ely_mondo_relaxed.owl cleft lip/palate-syndactyly-pili torti|ectodermal dysplasia type 4|cleft lip-palate-ectodermal dysplasia syndrome|cleft lip with or without cleft palate, nonsyndromic, 7|ectodermal dysplasia margarita island type|Bustos Simosa pinto Cisternas syndrome|cleft lip/palate-syndactyly-pili torti syndrome|ED4|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|ectodermal dysplasia, margarita Island type|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|cleft lip/palate-ectodermal dysplasia syndrome|CLPED1|autosomal recessive ectodermal dysplasia|Zlotogora-Zilberman-Tenenbaum syndrome|ectodermal dysplasia, type 4|syndactyly-ectodermal dysplasia-cleft/lip palate|orofacial cleft 7|Zlotogora-Ogur syndrome|CLEPD|margarita type of ectodermal dysplasia|Zlotogora syndrome UMLS:CN229116|DOID:0080400|Orphanet:1991|SCTID:716248001|OMIM:225060|Orphanet:320317|NCIT:C122656|DOID:0060773|Orphanet:3253|GARD:0001045|GARD:0000375 owl:Class UBERON:0002368 biolink:NamedThing endocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001041 biolink:NamedThing foregut tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100244 biolink:NamedThing paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. tmpte7i6ely_mondo_relaxed.owl HP:0004818|SCTID:1963002 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4232 owl:Class MONDO:0024321 biolink:NamedThing disorder of GPI anchor biosynthesis A disease that has its basis in the disruption of GPI anchor biosynthetic process. tmpte7i6ely_mondo_relaxed.owl GPIBD|disorder of GPI anchor biosynthetic process|glycosylphosphatidylinositol biosynthesis defect|GPI anchor biosynthetic process disease May be inborn or somatic owl:Class UBERON:0006355 biolink:NamedThing superior vesical vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100289 biolink:NamedThing Goldmann-Favre syndrome A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). tmpte7i6ely_mondo_relaxed.owl Goldmann-Favre syndrome|retinoschisis with early nyctalopia|Favre hyaloideoretinal Degeneration GARD:0010781|Orphanet:53540|ICD10:H35.5|SCTID:232065000 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007691 biolink:NamedThing Guillain-Barre syndrome, familial A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. tmpte7i6ely_mondo_relaxed.owl polyneuropathy, inflammatory demyelinating, chronic|polyneuropathy, inflammatory demyelinating, acute|chronic inflammatory demyelinating polyradiculoneuropathy|Guillain-Barre syndrome, familial|chronic inflammatory demyelinating polyneuropathy|AIDP|GBS Orphanet:98916|ICD10:G61.8|MedDRA:10057645|GARD:0006102|SCTID:716723000|OMIM:139393 Editor note: check this https://github.com/monarch-initiative/mondo/issues/3467 owl:Class HP:0002119 biolink:NamedThing Ventriculomegaly An increase in size of the ventricular system of the brain. tmpte7i6ely_mondo_relaxed.owl Cerebral ventricular dilatation|Enlarged ventricles|Dilated cerebral ventricle|Large cerebral ventricles and cisternae|Enlarged ventricular system|Dilated ventricles|Ventricular dilatation|Dilated cerebral ventricles|Enlarged cerebral ventricles UMLS:C3278923 HP:0002447|HP:0005691|HP:0007071 human_phenotype owl:Class MONDO:0012854 biolink:NamedThing bilateral microtia-deafness-cleft palate syndrome This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. tmpte7i6ely_mondo_relaxed.owl microtia with or without hearing impairment|microtia, hearing impairment, and cleft palate Orphanet:140963|UMLS:C2676772|OMIM:612290|MESH:C567359|ICD10:Q87.0 owl:Class UBERON:0012486 biolink:NamedThing muscle layer of cloaca tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902117 biolink:NamedThing positive regulation of organelle assembly Any process that activates or increases the frequency, rate or extent of organelle assembly. tmpte7i6ely_mondo_relaxed.owl activation of organelle assembly|upregulation of organelle assembly|up regulation of organelle assembly|up-regulation of organelle assembly owl:Class GO:0044089 biolink:NamedThing positive regulation of cellular component biogenesis Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001366 biolink:NamedThing parietal peritoneum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022351 biolink:NamedThing parietal serous membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009676 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. tmpte7i6ely_mondo_relaxed.owl DYSF autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 2B|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|LGMD3|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 2B|muscular dystrophy, limb-girdle, type 3|limb-girdle muscular dystrophy type 3|LGMD2B|limb-girdle muscular dystrophy type 2B ICD10:G71.0|GARD:0008574|NCIT:C142080|Orphanet:268|OMIM:253601|MESH:C535899|SCTID:718179003|DOID:0110276 owl:Class MONDO:0020563 biolink:NamedThing Dedifferentiated liposarcoma Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. tmpte7i6ely_mondo_relaxed.owl Dedifferentiated liposarcoma|DDLS ICD9:171.9|Orphanet:99970|EFO:0003085|ICD10:C49.9|ONCOTREE:DDLS|NCIT:C3704|DOID:0080531|ICDO:8858/3|SCTID:404072004|UMLS:C0205824 owl:Class MONDO:0015842 biolink:NamedThing bicornuate uterus tmpte7i6ely_mondo_relaxed.owl Orphanet:180134|SCTID:31401003|ICD10:Q51.3|MedDRA:10004550 owl:Class HGNC:2731 biolink:NamedThing DDR2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007747 biolink:NamedThing metacarpophalangeal joint of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20893 biolink:NamedThing BCOR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006022 biolink:NamedThing acidosis disorder An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. tmpte7i6ely_mondo_relaxed.owl acidosis SCTID:51387008|NCIT:C83504|ICD9:276.2|HP:0001941|EFO:1000014 owl:Class MONDO:0041261 biolink:NamedThing disorder of acid-base balance tmpte7i6ely_mondo_relaxed.owl disorder of acid-base balance|disturbance of acid-base balance SCTID:26436007|UMLS:C0268029 owl:Class MONDO:0013551 biolink:NamedThing hereditary spastic paraplegia 47 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene. tmpte7i6ely_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 5, formerly|SPG47|autosomal recessive spastic paraplegia 47|AP4B1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 5|hereditary spastic paraplegia 47|hereditary spastic paraplegia type 47|hereditary spastic paraplegia caused by mutation in AP4B1|spastic quadriplegic cerebral palsy 5|CPSQ5|spastic paraplegia 47, autosomal recessive DOID:0110799|Orphanet:280763|NCIT:C164224|OMIM:614066|UMLS:C3279738 owl:Class MONDO:0001402 biolink:NamedThing vaginal cancer A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of vagina|vaginal tumor|malignant vaginal tumor|malignant vagina tumor|malignant vaginal neoplasm|malignant tumor of the vagina|malignant neoplasm of the vagina|cancer of vagina|malignant vagina neoplasm|vagina neoplasm|malignant tumor of vagina|vagina cancer ICD9:184.0|GARD:0009348|NCIT:C3437|MESH:D014625|SCTID:126921000|ICD10:C52|NCIT:C7410|SCTID:363445000|DOID:119 https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer owl:Class HP:0010936 biolink:NamedThing Abnormality of the lower urinary tract An abnormality of the lower urinary tract. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023640 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. peter 2011-01-16T11:39:17Z human_phenotype owl:Class HP:0000079 biolink:NamedThing Abnormality of the urinary system An abnormality of the urinary system. tmpte7i6ely_mondo_relaxed.owl Urinary tract abnormality|Urinary tract anomalies|Urinary tract abnormalities UMLS:C4021821 human_phenotype owl:Class CL:0000035 biolink:NamedThing single fate stem cell A stem cell that self-renews as well as give rise to a single mature cell type. tmpte7i6ely_mondo_relaxed.owl unipotent stem cell|unipotential stem cell FMA:70569 cell owl:Class HGNC:4192 biolink:NamedThing GCGR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017169 biolink:NamedThing multiple endocrine neoplasia Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. tmpte7i6ely_mondo_relaxed.owl men|men syndromes|multiple endocrine neoplasia|men syndrome|multiple endocrine adenomatosis|multiple endocrine neoplasia syndrome(s)|multiple endocrine neoplasia syndrome OMIMPS:131100|UMLS:C0027662|SCTID:46724008|ICD10:D44.8|MedDRA:10061299|NCIT:C6432|ICDO:8360/1|Orphanet:276161|ICD9:258.0 owl:Class MONDO:0012105 biolink:NamedThing granulomatosis with polyangiitis A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. tmpte7i6ely_mondo_relaxed.owl Wg|granulomatosis - Wegener's|granulomatosis with polyangiitis|necrotizing respiratory granulomatosis|Wegener's syndrome|Wegener's granulomatosis|ANCA-associated vasculitis|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|Midline granulomatosis|Wegener granulomatosis|GPA SCTID:195353004|EFO:0005297|Orphanet:900|DOID:12132|ICD9:446.4|UMLS:C4050407|OMIM:608710|ICD10:M31.3|ICD10:M31.30|MedDRA:10047888|NCIT:C123111|MESH:D014890|GARD:0007880|UMLS:C3495801 owl:Class MONDO:0015492 biolink:NamedThing Anti-neutrophil cytoplasmic antibody-associated vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. tmpte7i6ely_mondo_relaxed.owl ANCA-associated vasculitis|antineutrophil cytoplasmic antibody-associated vasculitis|AAV MESH:D056648|GARD:0013011|UMLS:C2717865|Orphanet:156152 owl:Class UBERON:0003302 biolink:NamedThing roof plate of metencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012417 biolink:NamedThing heart-hand syndrome, Slovenian type A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. tmpte7i6ely_mondo_relaxed.owl heart-hand syndrome, Slovenian type|Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|atriodigital dysplasia, Slovenian type OMIM:610140|Orphanet:168796|ICD10:Q87.2|MESH:C535852|GARD:0009846|UMLS:C1857829|SCTID:721014007 https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type owl:Class MONDO:0003303 biolink:NamedThing neurofibroma of gallbladder A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpte7i6ely_mondo_relaxed.owl neurofibroma of gall bladder|neurofibroma of gallbladder|neurofibroma of the gallbladder|gallbladder neurofibroma|gall bladder neurofibroma DOID:5150|UMLS:C1333751|NCIT:C5746 owl:Class MONDO:0017007 biolink:NamedThing partial deletion of the long arm of chromosome X tmpte7i6ely_mondo_relaxed.owl partial monosomy of the long arm of chromosome X|partial deletion of chromosome Xq|partial monosomy of chromosome Xq|partial deletion of the long arm of chromosome type X Orphanet:263756|ICD10:Q99.8 owl:Class UBERON:0002416 biolink:NamedThing integumental system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014006 biolink:NamedThing Schuurs-Hoeijmakers syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed. tmpte7i6ely_mondo_relaxed.owl autosomal dominant intellectual disability-17|mental retardation, autosomal dominant type 17|autosomal dominant intellectual disability 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome|autosomal dominant mental retardation 17|intellectual disability, autosomal dominant 17|PACS1-related syndrome|intellectual disability, autosomal dominant type 17|SHMS|MRD17|Schuurs-Hoeijmakers syndrome|mental retardation, autosomal dominant 17 Orphanet:329224|NCIT:C150555|UMLS:C3554343|OMIM:615009|DOID:0070047|GARD:0013043 owl:Class GO:0050767 biolink:NamedThing regulation of neurogenesis Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060284 biolink:NamedThing regulation of cell development Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009453 biolink:NamedThing immune deficiency disease tmpte7i6ely_mondo_relaxed.owl immune deficiency disease MESH:C565469|OMIM:242850|UMLS:C1855771 owl:Class MONDO:0007671 biolink:NamedThing fibronectin glomerulopathy Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. tmpte7i6ely_mondo_relaxed.owl GFND2|GFND|GFND1|glomerulopathy with fibronectin deposits 1|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with giant fibrillar deposits|fibronectin glomerulopathy|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 2|glomerulopathy with fibronectin deposits OMIMPS:137950|ICD10:N07.6|SCTID:236535001|Orphanet:84090|OMIM:601894|OMIM:137950|GARD:0009268|MESH:C536826|MESH:C562900 Editor note: consider splitting out type 1, and also separate class for giant subtype https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 owl:Class MONDO:0015163 biolink:NamedThing primary glomerular disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN197503|Orphanet:102373 owl:Class GO:0050804 biolink:NamedThing modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. tmpte7i6ely_mondo_relaxed.owl modulation of synaptic transmission|regulation of chemical synaptic transmission|regulation of synaptic transmission owl:Class GO:0099177 biolink:NamedThing regulation of trans-synaptic signaling Any process that modulates the frequency, rate or extent of trans-synaptic signaling. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013181 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A3 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, hypomaturation type, IIA3|amelogenesis imperfecta caused by mutation in WDR72|amelogenesis imperfecta hypomaturation type IIA3|WDR72 amelogenesis imperfecta|amelogenesis imperfecta type IIA3|AI2A3|amelogenesis imperfecta hypomaturation type 2A3 MESH:C567706|Orphanet:100033|OMIM:613211|DOID:0110061|UMLS:C2750771|ICD10:K00.5 owl:Class MONDO:0015048 biolink:NamedThing amelogenesis imperfecta type 2 tmpte7i6ely_mondo_relaxed.owl hypomaturation amelogenesis imperfecta|amelogenesis imperfecta hypomaturation type OMIM:612529|ICD10:K00.5|OMIM:617217|OMIM:614832|OMIM:615887|MESH:C536606|OMIM:204700|OMIM:301200|ICD9:520.5|SCTID:109475005|Orphanet:100033|OMIM:613211|GARD:0008349 owl:Class MONDO:0019573 biolink:NamedThing autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). tmpte7i6ely_mondo_relaxed.owl ARCL2|cutis laxa with joint laxity and developmental delay Orphanet:90350|ICD10:Q82.8 owl:Class MONDO:0017355 biolink:NamedThing inborn disorder of proline metabolism An acquired metabolic disease that is has its basis in the disruption of proline metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn proline metabolic process disorder|inborn error of proline metabolic process|disorder of proline metabolism|rare inborn error of proline metabolic process ICD10:E72.8|UMLS:CN227118|Orphanet:289866 owl:Class MONDO:0018359 biolink:NamedThing neonatal dermatomyositis tmpte7i6ely_mondo_relaxed.owl neonatal DM Orphanet:398117|ICD10:M33.1 owl:Class UBERON:0012248 biolink:NamedThing cervical mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001295 biolink:NamedThing endometrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014416 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 2 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. tmpte7i6ely_mondo_relaxed.owl AIMAH2|ACTH-independent macronodular adrenal hyperplasia type 2|primary macronodular adrenal hyperplasia|ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia 2|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5 OMIM:615954|UMLS:C4014803|DOID:0111624|Orphanet:189427 owl:Class MONDO:0009049 biolink:NamedThing Cushing syndrome due to macronodular adrenal hyperplasia A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. tmpte7i6ely_mondo_relaxed.owl primary bilateral macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease|MMAD|primary macronodular adrenal hyperplasia|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent Cushing syndrome|AIMAH OMIM:219080|GARD:0010824|OMIM:615954|ICD10:E24.8|UMLS:C2062388|Orphanet:189427|UMLS:CN200644|SCTID:720459002|MESH:C565662 https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia owl:Class MONDO:0042956 biolink:NamedThing Saal-Bulas syndrome tmpte7i6ely_mondo_relaxed.owl ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum|Saal Bulas syndrome MESH:C537193|UMLS:C2931439|GARD:0000311 owl:Class UBERON:0007823 biolink:NamedThing appendage girdle region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001059 biolink:NamedThing gastric lymphoma An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpte7i6ely_mondo_relaxed.owl gastric lymphoma|primary gastric lymphoma|stomach lymphoma|lymphoma of stomach|lymphoma of the stomach UMLS:C0349532|SCTID:276811008|ICD9:202.83|NCIT:C4636|DOID:10540 owl:Class MONDO:0001056 biolink:NamedThing gastric cancer A primary or metastatic malignant neoplasm involving the stomach. tmpte7i6ely_mondo_relaxed.owl Ca lesser curvature - stomach|malignant neoplasm of the stomach|malignant tumor of lesser curve of stomach|malignant gastric tumor|malignant neoplasm of lesser curve of stomach|cancer of stomach|malignant tumor of stomach|malignant neoplasm of stomach|malignant stomach neoplasm|malignant gastric neoplasm|gastric neoplasm|gastric cancer|malignant neoplasm of body of stomach|gastric cancer, intestinal|stomach cancer|ca greater curvature of stomach|malignant tumor of body of stomach|Ca body - stomach|malignant tumor of greater curve of stomach|malignant tumor of the stomach MESH:D013274|OMIM:137215|GARD:0007704|ICD10:C16|ICD9:151.5|ICD10:C16.2|ICD10:C16.6|ICD10:C16.9|UMLS:C0699791|ICD9:151|UMLS:C0038356|DOID:10534|ICD10:C16.5|ICD9:151.6|NCIT:C9331|ICD9:151.4|ICD9:151.9|SCTID:126824007|Orphanet:63443|OMIM:613659 owl:Class MONDO:0004939 biolink:NamedThing hallucinogen dependence A drug dependence for a hallucinogenic substance. tmpte7i6ely_mondo_relaxed.owl NCIT:C34657|SCTID:38247002|ICD9:304.5|ICD10:F16.2|ICD9:304.50|DOID:9977 owl:Class MONDO:0005303 biolink:NamedThing drug dependence Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug. tmpte7i6ely_mondo_relaxed.owl chemical dependence ICD9:304.60|ICD9:304.90|ICD9:304|NCIT:C3894|ICD9:304.6|DOID:9974|SCTID:191816009|MESH:D019966|EFO:0003890 owl:Class GO:0019217 biolink:NamedThing regulation of fatty acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpte7i6ely_mondo_relaxed.owl regulation of fatty acid metabolism owl:Class UBERON:0012355 biolink:NamedThing manual acropodium region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005451 biolink:NamedThing segment of manus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013514 biolink:NamedThing space surrounding organism tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001205 biolink:NamedThing lithification A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000043 biolink:NamedThing material transformation process A process during which a portion of some environmental material is converted into a different material or a collection of materials. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043247 biolink:NamedThing Mallory-Weiss syndrome A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics. tmpte7i6ely_mondo_relaxed.owl gastro-esophageal laceration-hemorrhage syndrome|Lacerations-gastroesophageal junctions, mucosal|syndrome, Mallory-Weiss|gastroesophageal laceration-hemorrhages|junction, mucosal Lacerations-gastroesophageal|Mallory-Weiss laceration|laceration, Mallory-Weiss|gastroesophageal laceration-hemorrhage|Mallory Weiss laceration|mucosal Lacerations gastroesophageal junction|Mallory Weiss syndrome|mucosal Lacerations-gastroesophageal junctions|gastroesophageal laceration-hemorrhage syndrome|gastroesophageal laceration hemorrhage|Mallory-Weiss tear|Mallory Weiss tear|mucosal Lacerations-gastroesophageal junction|mucosal lacerations - gastroesophageal junction|laceration-hemorrhages, gastroesophageal|Mallory-Weiss syndrome|laceration-hemorrhage, gastroesophageal|Lacerations-gastroesophageal junction, mucosal|junctions, mucosal Lacerations-gastroesophageal MESH:D008309|GARD:0006967|NCIT:C84881|UMLS:C0024633|SCTID:35265002 owl:Class CL:0009038 biolink:NamedThing colon macrophage A macrophage that is located in the colon. tmpte7i6ely_mondo_relaxed.owl macrophage of colon owl:Class CL:0000235 biolink:NamedThing macrophage A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpte7i6ely_mondo_relaxed.owl histiocyte FMA:83585|BTO:0000801|FMA:63261|CALOHA:TS-0587 Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0005341 biolink:NamedThing skin basal cell carcinoma The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. tmpte7i6ely_mondo_relaxed.owl basal cell skin carcinoma|basal cell tumor|skin basal cell carcinoma|basal cell carcinoma of skin|basal cell cancer|basal cell epithelioma|skin basal cell cancer|BCC|basal cell carcinoma|basal cell carcinoma of the skin|epithelioma basal cell UMLS:C0206710|ICDO:8090/3|ONCOTREE:BCC|UMLS:C0751676|OMIM:605462|EFO:0004193|OMIM:613059|DOID:2513|CSP:2000-2719|OMIM:613058|NCIT:C2921|OMIM:613062|OMIM:614740|OMIM:613063|SCTID:254701007|HP:0002671|KEGG:05217|OMIM:613061|UMLS:C0007117 owl:Class MONDO:0002529 biolink:NamedThing skin squamous cell carcinoma A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma - skin|cutaneous squamous cell carcinoma|epidermoid carcinoma of the skin|zone of skin squamous cell carcinoma|CSCC|skin squamous cell cancer|squamous cell skin carcinoma|epidermoid carcinoma of skin|skin squamous cell carcinoma|squamous cell carcinoma of skin|epidermoid skin carcinoma|squamous cell carcinoma of the skin SCTID:254651007|UMLS:C0553723|ONCOTREE:CSCC|EFO:1001927|NCIT:C4819|DOID:3151 owl:Class MONDO:0012825 biolink:NamedThing extraskeletal myxoid chondrosarcoma A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs. tmpte7i6ely_mondo_relaxed.owl extraosseous chondrosarcoma|myxoid extraosseous chondrosarcoma|extraskeletal chondrosarcoma|myxoid extraskeletal chondrosarcoma|EMC|chondrosarcoma, extraskeletal myxoid ONCOTREE:EMCHS|OMIM:612237|Orphanet:209916|MESH:C563195|UMLS:C1275278|SCTID:404079008|ICD9:171.9|NCIT:C27502|DOID:6496|ICD10:C49.9 owl:Class MONDO:0043099 biolink:NamedThing Hordnes Engebretsen Knudtson syndrome tmpte7i6ely_mondo_relaxed.owl acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation UMLS:C2931100|MESH:C536067|GARD:0002736 owl:Class MONDO:0009621 biolink:NamedThing microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl microcephaly with cervical spine fusion anomalies|microcephaly cervical spine fusion anomalies|microcephaly, mild mental retardation, short stature, and skeletal anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies UMLS:C0796066|ICD10:Q87.8|Orphanet:2522|OMIM:251250|MESH:C537325|GARD:0003610|SCTID:715462003 owl:Class MONDO:0017834 biolink:NamedThing secondary hypereosinophilic syndrome tmpte7i6ely_mondo_relaxed.owl secondary HES|HES-R|reactive hypereosinophilic syndrome UMLS:CN203809|Orphanet:314962|ICD10:D47.5 owl:Class GO:0090358 biolink:NamedThing positive regulation of tryptophan metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpte7i6ely_mondo_relaxed.owl positive regulation of tryptophan metabolism owl:Class GO:0045764 biolink:NamedThing positive regulation of cellular amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpte7i6ely_mondo_relaxed.owl up-regulation of amino acid metabolic process|up regulation of amino acid metabolic process|stimulation of amino acid metabolic process|positive regulation of amino acid metabolism|upregulation of amino acid metabolic process|activation of amino acid metabolic process owl:Class CHEBI:16199 biolink:NamedThing urea A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O). tmpte7i6ely_mondo_relaxed.owl H2NC(O)NH2|Carbamide|urea|UREA|1728|Urea|Harnstoff|Karbamid|carbamide|carbonyldiamide|E927b|uree|ur owl:Class CHEBI:29347 biolink:NamedThing monocarboxylic acid amide A carboxamide derived from a monocarboxylic acid. tmpte7i6ely_mondo_relaxed.owl monocarboxylic acid amides owl:Class MONDO:0005868 biolink:NamedThing myelophthisic anemia A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. tmpte7i6ely_mondo_relaxed.owl leukoerythroblastosis|anemia, leukoerythroblastic|myelophthisis|anemia LEUKOERYTHROBLASTIC|leukoerythroblastic reaction DOID:2354|ICD9:285.8|UMLS:C0002890|EFO:0007388|MESH:D000750|ICD10:D61.82|NCIT:C36218|SCTID:2694001 owl:Class MONDO:0012197 biolink:NamedThing idiopathic aplastic anemia Aplastic anemia without a known cause. tmpte7i6ely_mondo_relaxed.owl secondary aplastic anemia|aplastic anemia|aplastic Anemia, susceptibility to|idiopathic aplastic aplasia|aplastic anemia idiopathic|idiopathic bone marrow failure|anemia aplastic Orphanet:88|OMIM:614742|UMLS:C0348890|OMIM:614743|ICD10:D61.0|GARD:0005836|NCIT:C61230|OMIM:609135|ICD10:D61.3|MESH:C538494|SCTID:191256002 owl:Class MONDO:0001334 biolink:NamedThing hypertrichosis of eyelid A hypertrichosis (disease) that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl hypertrichosis (disease) of eyelid|eyelid hypertrichosis (disease) DOID:11669|UMLS:C0155213|ICD10:H02.86|ICD9:374.54|SCTID:79830009 owl:Class HGNC:619 biolink:NamedThing APOL2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26764 biolink:NamedThing steroid hormone Any steroid that acts as hormone. tmpte7i6ely_mondo_relaxed.owl Steroidhormon|hormona esteroide|steroid hormones|hormones steroides|Steroidhormone|hormonas esteroideas|hormone steroide owl:Class MONDO:0006329 biolink:NamedThing olfactory neuroblastoma An olfactory neuroblastoma arising in the paranasal sinus. tmpte7i6ely_mondo_relaxed.owl paranasal sinus olfactory neuroblastoma|olfactory esthesioneuroblastoma|olfactory neuroblastoma|Asthesioneuroblastoma|esthesioneuroblastoma|olfactory neuroepithelioma|Asthesioneuroblastoma (morphologic abnormality)|Esthesioneuroepithelioma [dup] (morphologic abnormality)|esthesioneuroblastoma (morphologic abnormality)|Esthesioneuroepithelioma|Esthesioneuroepithelioma (morphologic abnormality) DOID:369|EFO:1000407|NCIT:C3789|ICDO:9522/3|ONCOTREE:ONBL|ICDO:9523/3 owl:Class MONDO:0030849 biolink:NamedThing intellectual developmental disorder with speech delay and axonal peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl IDDSAPN OMIM:619099 owl:Class MONDO:0006323 biolink:NamedThing non-seminomatous lesion A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma. tmpte7i6ely_mondo_relaxed.owl NCIT:C36127|EFO:1000401 owl:Class MONDO:0014199 biolink:NamedThing developmental and epileptic encephalopathy, 17 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene. tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in GNAO1|DEE17|epileptic encephalopathy, early infantile, 17|epileptic encephalopathy, early infantile, type 17|GNAO1 early infantile epileptic encephalopathy|EIEE17|GNAO1 encephalopathy|early infantile epileptic encephalopathy-17 DOID:0080450|OMIM:615473|GARD:0013378|UMLS:C3809606 owl:Class MONDO:0010510 biolink:NamedThing intellectual disability, X-linked 105 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 105|non-syndromic X-linked intellectual disability caused by mutation in USP27X|MRX105|intellectual disability, X-linked 105|USP27X non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 105|mental retardation, X-linked type 105 OMIM:300984|UMLS:C4310816 owl:Class MONDO:0010605 biolink:NamedThing hemopoietic proliferation tmpte7i6ely_mondo_relaxed.owl hemopoietic proliferation OMIM:306930 owl:Class MONDO:0014837 biolink:NamedThing thrombocytopenia 6 tmpte7i6ely_mondo_relaxed.owl hereditary thrombocytopenia with early-onset myelofibrosis|thrombocytopenia, autosomal dominant, 6|THC6|thrombocytopenia type 6|thrombocytopenia 6 UMLS:C4310789|OMIM:616937|Orphanet:480851 owl:Class GO:0009991 biolink:NamedThing response to extracellular stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000449 biolink:NamedThing epithelial cell of nephron An epithelial cell that is part of the nephron. tmpte7i6ely_mondo_relaxed.owl FMA:70965 cell owl:Class MONDO:0021053 biolink:NamedThing carotid body paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck. tmpte7i6ely_mondo_relaxed.owl carotid body paraganglioma|tumor of the carotid body|chemodectoma, undetermined|carotid body tumor|paraganglioma of carotid body|paraganglioma of the carotid body|chemodectoma|carotid body chemodectoma|tumor of carotid body UMLS:C0007279|GARD:0010598|ICDO:8692/1|NCIT:C2932 owl:Class GO:0099522 biolink:NamedThing cytosolic region Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol. tmpte7i6ely_mondo_relaxed.owl region of cytosol owl:Class GO:0005829 biolink:NamedThing cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007254 biolink:NamedThing breast cancer A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. tmpte7i6ely_mondo_relaxed.owl mammary cancer|malignant breast neoplasm|cancer of breast|malignant tumor of the breast|malignant tumor of breast|breast cancer|malignant breast tumor|mammary tumor|primary breast cancer|malignant neoplasm of the breast|breast tumor|malignant neoplasm of breast|mammary neoplasm SCTID:254837009|SCTID:126926005|ICD9:174.8|NCIT:C9335|ICD10:C50-C50|OMIM:605365|MESH:D001943|ICD10:C50|DOID:1612|OMIM:600048 owl:Class MONDO:0005176 biolink:NamedThing benign insulitis A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation. tmpte7i6ely_mondo_relaxed.owl Wikipedia:Insulitis|PMID:20545565|EFO:0002502 Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. owl:Class MONDO:0001933 biolink:NamedThing endocrine pancreas disorder A disease involving the endocrine pancreas. tmpte7i6ely_mondo_relaxed.owl endocrine pancreas disorder|disease of endocrine pancreas|disorder of pancreatic islets|endocrine pancreas disease or disorder|endocrine pancreas disease|disorder of endocrine pancreas|disease or disorder of endocrine pancreas|disorder of islets of langerhans ICD9:251|DOID:1428|SCTID:17346000|NCIT:C27067|UMLS:C0271633|ICD10:E16 owl:Class HGNC:16732 biolink:NamedThing MCEE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024566 biolink:NamedThing febrile seizures, familial, 11 tmpte7i6ely_mondo_relaxed.owl convulsions, familial febrile, 11|FEB11|febrile seizures, familial, 11 Orphanet:165805|UMLS:C3280734|OMIM:614418|DOID:0111308 owl:Class CHEBI:27933 biolink:NamedThing beta-lactam antibiotic An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring. tmpte7i6ely_mondo_relaxed.owl beta-lactam antibiotics|beta-Lactam antibiotics owl:Class CHEBI:25558 biolink:NamedThing organonitrogen heterocyclic antibiotic tmpte7i6ely_mondo_relaxed.owl organonitrogen heterocyclic antibiotics owl:Class UBERON:0006071 biolink:NamedThing caudal region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011676 biolink:NamedThing subdivision of organism along main body axis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018891 biolink:NamedThing familial tumoral calcinosis Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. tmpte7i6ely_mondo_relaxed.owl ICD10:M11.2|OMIM:211900|MedDRA:10059364|Orphanet:53715|GARD:0010877|OMIM:610455 https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis owl:Class MONDO:0025271 biolink:NamedThing trypanosomiasis, bovine Infection in cattle caused by various species of trypanosomes. tmpte7i6ely_mondo_relaxed.owl Trypanosomiases, bovine|bovine Trypanosomiases|bovine trypanosomiasis UMLS:C0041230|MESH:D014354 owl:Class ENVO:00002000 biolink:NamedThing slope A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and relatively flat surrounding land. tmpte7i6ely_mondo_relaxed.owl side|flank owl:Class UBERON:0004249 biolink:NamedThing manual digit bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009315 biolink:NamedThing congenital factor XII deficiency Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. tmpte7i6ely_mondo_relaxed.owl factor XII deficiency disease|Hageman Factor deficiency|coagulation factor 12 deficiency|congenital Hageman factor deficiency|congenital factor XII deficiency|deficiency, Hageman|factor 12 deficiency|F12 deficiency|factor XII deficiency|Haf deficiency GARD:0006558|OMIM:234000|NCIT:C131740|ICD9:286.3|ICD10:D68.2|UMLS:C0015526|SCTID:46981006|MESH:D005175|Orphanet:330|DOID:2231 https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency owl:Class MONDO:0019447 biolink:NamedThing atypical lichen myxedematosus Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. tmpte7i6ely_mondo_relaxed.owl Intermediate lichen myxedematosus UMLS:C4510874|Orphanet:86797|ICD10:L98.5|SCTID:725148000 owl:Class MONDO:0018432 biolink:NamedThing lichen myxedematosus tmpte7i6ely_mondo_relaxed.owl lichen myxoedematosus|papular mucinosis|lichenoid myxedema UMLS:C0263390|ICD9:701.8|SCTID:111197009|ICD10:L98.5|Orphanet:402007 owl:Class MONDO:0008627 biolink:NamedThing ureter cancer A malignant neoplasm involving the ureter tmpte7i6ely_mondo_relaxed.owl malignant ureteral neoplasm|ureter cancer|malignant ureter neoplasm|ureter, cancer OF|malignant neoplasm of the ureter|malignant neoplasm of ureter|malignant tumor of the ureter|malignant ureter tumor|malignant ureteral tumor|malignant tumor of ureter|cancer of ureter|malignant tumour of ureter ICD10:C66|NCIT:C7543|DOID:11819|ICD9:189.2|UMLS:C0153619|SCTID:363458004|OMIM:191600|MESH:D014516 owl:Class GO:1903337 biolink:NamedThing positive regulation of vacuolar transport Any process that activates or increases the frequency, rate or extent of vacuolar transport. tmpte7i6ely_mondo_relaxed.owl activation of vacuolar transport|up regulation of vacuolar transport|upregulation of vacuolar transport|up-regulation of vacuolar transport owl:Class UBERON:0002080 biolink:NamedThing heart right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035554 biolink:NamedThing right cardiac chamber tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005738 biolink:NamedThing echinococcosis A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. tmpte7i6ely_mondo_relaxed.owl Echinococcus infectious disease|hydatid disease|echinococcal disease|hepatic echinococcosis|echinococcosis, unspecified, of liver|echinococcosis of liver|echinococciasis|Echinococcus caused disease or disorder|echinococcus disease|hydatidosis|pulmonary echinococcosis|liver echinococcus|echinococcosis|Echinococcus disease or disorder EFO:0007245|ICD9:122.9|DOID:1496|ICD9:122|MESH:D004443|NCIT:C84682|ICD10:B67.90|UMLS:C0013502|SCTID:74942003|ICD10:B67 owl:Class MONDO:0002727 biolink:NamedThing olfactory nerve disorder A disease involving the olfactory nerve. tmpte7i6ely_mondo_relaxed.owl olfactory nerve disorder|disease or disorder of olfactory nerve|disorder of olfactory [1st] nerve|disorder of the 1st nerve|olfactory nerve disease|disorder of olfactory nerve|olfactory nerve disease or disorder|disease of olfactory nerve|disorder of 1st nerve NCIT:C27210|MESH:D020431|ICD10:G52.0|DOID:367|SCTID:68982002|ICD9:352.0|UMLS:C0751937 owl:Class MONDO:0003569 biolink:NamedThing cranial nerve neuropathy A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. tmpte7i6ely_mondo_relaxed.owl disorder of cranial neuron projection bundle|cranial neuropathy|cranial neuron projection bundle disease|cranial nerve disorder|disease of cranial neuron projection bundle|disease or disorder of cranial neuron projection bundle|cranial nerve disease|cranial neuron projection bundle disease or disorder|disorder of cranial nerve UMLS:C0010266|SCTID:73013002|ICD9:352.9|ICD10:G52.9|DOID:5656|NCIT:C26733|MESH:D003389 owl:Class PO:0025233 biolink:NamedThing portion of embryo plant tissue A portion of plant tissue (PO:0009007) that is part of a plant embryo (PO:0009009). tmpte7i6ely_mondo_relaxed.owl portion of embryo tissue (broad)|portion of embryonic plant tissue (exact)|tejido embriónico vegetal (Spanish, exact)|植物胚性組織 の一部 (Japanese, exact) PO_GIT:338 This class is for tissues that only occur as part of an embryo. rwalls 2010-12-20T12:27:10Z plant_anatomy owl:Class PO:0025099 biolink:NamedThing embryo plant structure A plant structure (PO:0009011) that is part of an plant embryo (PO:0009009). tmpte7i6ely_mondo_relaxed.owl estructura vegetal embriónica (Spanish, exact)|embryonic plant structure (exact)|胚性植物構造 (Japanese, exact) PO_GIT:339|PO_GIT:245 Includes plant structures that only occur in embryos (such as suspensor) as well as plant structures that are part of an embryo when a plant is in the embryonic phase (such as embryonic radicle). rwalls 2010-11-05T01:36:24Z plant_anatomy owl:Class GO:1904690 biolink:NamedThing positive regulation of cytoplasmic translational initiation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. tmpte7i6ely_mondo_relaxed.owl up regulation of cytoplasmic translational initiation|activation of cytoplasmic translational initiation|upregulation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation owl:Class GO:0045948 biolink:NamedThing positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation. tmpte7i6ely_mondo_relaxed.owl upregulation of translational initiation|up regulation of translational initiation|activation of translational initiation|up-regulation of translational initiation|stimulation of translational initiation owl:Class HGNC:10660 biolink:NamedThing SDC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020340 biolink:NamedThing bilateral perisylvian polymicrogyria tmpte7i6ely_mondo_relaxed.owl Orphanet:98889|GARD:0006011|OMIM:300388|OMIM:616531|OMIM:615752|ICD10:Q04.3 owl:Class MONDO:0012516 biolink:NamedThing mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability. tmpte7i6ely_mondo_relaxed.owl MFDGA|mandibulofacial dysostosis-microcephaly syndrome|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mandibulofacial dysostosis, Guion-Almeida type|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate|mandibulofacial dysostosis with microcephaly|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate|MFDM syndrome|MFDM|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome UMLS:C1864652|ICD10:Q87.0|MESH:C537405|GARD:0010056|SCTID:711543008|DOID:0080196|Orphanet:79113|OMIM:610536 owl:Class MONDO:0016255 biolink:NamedThing uterine corpus mixed epithelial and mesenchymal neoplasm A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma. tmpte7i6ely_mondo_relaxed.owl uterine corpus mixed epithelial and mesenchymal tumor|malignant mixed epithelial and mesenchymal tumor of corpus uteri|uterine corpus mixed epithelial and mesenchymal neoplasm|body of uterus mixed neoplasm|mixed epithelial and mesenchymal cancer of corpus uteri ICD10:C54.2|ICD10:C54.0|UMLS:C1519858|ICD10:C54.1|Orphanet:213589|ICD10:C54.8|NCIT:C40181|ICD10:C54.3 Editor note: Consider placing Orphanet equiv with subclass (malignant form) owl:Class GO:0016746 biolink:NamedThing acyltransferase activity Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl acyltransferase activity|transferase activity, transferring acyl groups owl:Class MONDO:0004366 biolink:NamedThing mixed astrocytoma-ependymoma-oligodendroglioma A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components. tmpte7i6ely_mondo_relaxed.owl mixed astrocytoma-ependymoma-oligodendroglioma UMLS:C0280792|DOID:7817|NCIT:C8272 owl:Class MONDO:0003268 biolink:NamedThing mixed glioma A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes). tmpte7i6ely_mondo_relaxed.owl mixed glial neoplasm|glioma, mixed, malignant|glioma, mixed|mixed neuroglial neoplasm|mixed gliomas|mixed glioma (morphologic abnormality)|mixed glioma|mixed neuroglial tumor|mixed glial tumor ICDO:9382/3|NCIT:C3903|MESH:D005910|UMLS:C0259783|DOID:5076|SCTID:443937008 owl:Class MONDO:0005537 biolink:NamedThing perianal Crohn disease An Crohn disease involving a pathogenic inflammatory response in the anal canal. tmpte7i6ely_mondo_relaxed.owl perianal Crohn's disease SCTID:235796008|EFO:0005627|UMLS:C0341395 owl:Class MONDO:0012453 biolink:NamedThing hereditary spastic paraplegia 31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 31, autosomal dominant|hereditary spastic paraplegia caused by mutation in REEP1|autosomal dominant spastic paraplegia 31|SPG31|autosomal dominant spastic paraplegia type 31|hereditary spastic paraplegia type 31|REEP1 hereditary spastic paraplegia|spastic paraplegia 31 ICD10:G11.4|SCTID:763068005|MESH:C565210|UMLS:C1853247|Orphanet:101011|DOID:0110782|GARD:0010817|OMIM:610250 owl:Class MONDO:0000708 biolink:NamedThing Crohn jejunoileitis tmpte7i6ely_mondo_relaxed.owl jejunoileitis ICD10:K50.0|DOID:0060188 owl:Class MONDO:0000709 biolink:NamedThing Crohn ileitis An Crohn disease involving a pathogenic inflammatory response in the ileum. tmpte7i6ely_mondo_relaxed.owl ileitis|Crohn's ileitis SCTID:52457000|CSP:1248-5305|NDFRT:N0000001662|MedDRA:10021312|NCIT:C35329|ICD10:K52.9|DOID:0060189|MESH:D007079|UMLS:C0020877|ICD9:558.9 owl:Class GO:0044145 biolink:NamedThing modulation of formation of structure involved in a symbiotic process Any process that modulates the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpte7i6ely_mondo_relaxed.owl modulation of development of symbiont during interaction with host|modulation of development of symbiont involved in interaction with host owl:Class UBERON:0004422 biolink:NamedThing proximal epiphysis of first metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004416 biolink:NamedThing proximal epiphysis of metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005760 biolink:NamedThing urorectal septum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003037 biolink:NamedThing septum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000535 biolink:NamedThing tonsil squamous cell carcinoma A squamous cell carcinoma that involves the tonsil. tmpte7i6ely_mondo_relaxed.owl tonsil squamous cell carcinoma DOID:0050920 owl:Class MONDO:0021337 biolink:NamedThing tonsil carcinoma A carcinoma that involves the tonsil. tmpte7i6ely_mondo_relaxed.owl cancer of the tonsil|tonsillar cancer|carcinoma of the tonsil|carcinoma of tonsil|cancer of tonsil|tonsillar carcinoma|tonsil carcinoma|tonsil cancer SCTID:274085008|NCIT:C4825|UMLS:C0558355 owl:Class NCIT:C36869 biolink:NamedThing Spindle Melanocyte tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C36862 biolink:NamedThing Neoplastic Melanocyte tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021533 biolink:NamedThing intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl intestinal carcinoid tumor|intestine NET G1|carcinoid tumor of intestine|intestine neuroendocrine tumor, well differentiated, low grade|intestinal NET G1|intestine carcinoid tumor|intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of intestine|intestine neuroendocrine neoplasm G1|intestinal neuroendocrine tumor G1|carcinoid tumor of the intestine NCIT:C4637|SCTID:276816003|OMIM:114900|MESH:C562842|UMLS:C0349535 owl:Class MONDO:0008215 biolink:NamedThing adult-onset autosomal dominant demyelinating leukodystrophy Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|adult-onset autosomal dominant demyelinating leukodystrophy|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|ADLD|autosomal dominant adult-onset demyelinating leukodystrophy|autosomal dominant leukodystrophy with autonomic disease|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease|adult-onset autosomal dominant leukodystrophy|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|multiple sclerosis-like disorder Orphanet:99027|ICD10:E75.2|DOID:0060785|SCTID:448054001|GARD:0010587|OMIM:169500|MESH:C566813 owl:Class MONDO:0005786 biolink:NamedThing Hepadnaviridae infectious disease Virus diseases caused by the hepadnaviridae. tmpte7i6ely_mondo_relaxed.owl Hepadnaviridae caused disease or disorder|Hepadnaviridae disease or disorder UMLS:C0206746|MESH:D018347|EFO:0007301 owl:Class MONDO:0005522 biolink:NamedThing small intestine carcinoma A carcinoma that arises from epithelial cells of the small intestine tmpte7i6ely_mondo_relaxed.owl small intestine cancer, NOS|carcinoma of small intestine|cancer of the small bowel|carcinoma of small bowel|carcinoma of the small bowel|small intestine cancer|cancer of small bowel|small intestinal cancer|small bowel carcinoma|carcinoma of the small intestine|small bowel cancer|small intestine carcinoma|small intestinal carcinoma NCIT:C7724|SCTID:448664009|DOID:4907|ONCOTREE:SIC|EFO:0005588 owl:Class MONDO:0018656 biolink:NamedThing tremor-ataxia-central hypomyelination syndrome tmpte7i6ely_mondo_relaxed.owl tach syndrome ICD10:E75.2|UMLS:CN237714|Orphanet:447896|OMIM:607694 owl:Class MONDO:0100406 biolink:NamedThing acute myeloid leukemia, inv(16)(p13.3;q24.3) Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, inv(16)(p13q24)|AML, inv(16)(p13.3;q24.3)|AML, inv(16)(p13;q24)|AML, inv(16)(p13.3q24.3) NCIT:C167195 owl:Class MONDO:0002415 biolink:NamedThing bone carcinoma A carcinoma that involves the bone element. tmpte7i6ely_mondo_relaxed.owl carcinoma of bone element|bone element carcinoma DOID:2762 owl:Class MONDO:0000339 biolink:NamedThing spinal polio A paralytic poliomyelitis in which the site of paralysis is the spinal cord. tmpte7i6ely_mondo_relaxed.owl DOID:0050513 owl:Class MONDO:0032834 biolink:NamedThing retinitis pigmentosa 86 tmpte7i6ely_mondo_relaxed.owl RP86|RETINITIS PIGMENTOSA 86 OMIM:618613 owl:Class MONDO:0021759 biolink:NamedThing acquired fructose intolerance Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications. tmpte7i6ely_mondo_relaxed.owl fructose malabsorption|intestinal fructose intolerance|acquired fructose intolerance|dietary fructose intolerance GARD:0002399|SCTID:413427002 https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance owl:Class MONDO:0043975 biolink:NamedThing autonomic dysreflexia A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) tmpte7i6ely_mondo_relaxed.owl spinal autonomic Dysreflexia|autonomic Dysreflexias|Dysreflexia, autonomic|spinal autonomic Dysreflexias|autonomic Dysreflexias, spinal|autonomic hyperreflexia|autonomic Dysreflexia, spinal|Dysreflexias, spinal autonomic|hyperreflexia, autonomic|Dysreflexia, spinal autonomic|autonomic dysreflexia|dysreflexia|hyperreflexias, autonomic|Dysreflexias, autonomic|autonomic Hyperreflexias UMLS:C0238015|SCTID:129618003|EFO:1001762|MESH:D020211 owl:Class MONDO:0002738 biolink:NamedThing acute transudative otitis media Acute form of non-suppurative otitis media. tmpte7i6ely_mondo_relaxed.owl acute transudative otitis media|acute secretory otitis media|acute non-suppurative otitis media|acute nonsuppurative otitis media|non-suppurative otitis media, acute|acute otitis media with effusion UMLS:C2939185|ICD9:381.0|SCTID:359609001|ICD9:381.00|DOID:3697|UMLS:C0271432 owl:Class UBERON:0013192 biolink:NamedThing ovarian medulla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000065 biolink:NamedThing microvascular complications of diabetes, susceptibility tmpte7i6ely_mondo_relaxed.owl microvascular complications of diabetes OMIMPS:603933|UMLS:CN357508 Editor note: relationship to diabetic angiopathy owl:Class UBERON:0005076 biolink:NamedThing hindbrain-spinal cord boundary tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:09000019 biolink:NamedThing concentration of chloride in water The concentration of a chloride when measured in water. tmpte7i6ely_mondo_relaxed.owl water chloride concentration owl:Class MONDO:0012589 biolink:NamedThing Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. tmpte7i6ely_mondo_relaxed.owl encephalopathy, Severe epileptic, with autonomic dysfunction|intellectual disability, Syndromal, with intermittent hyperventilation|PTHS|Pitt Hopkins syndrome|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea|Pitt-Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation MESH:C537403|UMLS:C1970431|Orphanet:2896|SCTID:702344008|ICD10:Q87.0|NCIT:C129872|OMIM:610954|GARD:0004372|DOID:0060488|ICD9:758.5 https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome owl:Class MONDO:0008175 biolink:NamedThing pacman dysplasia Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. tmpte7i6ely_mondo_relaxed.owl epiphyseal stippling with osteoclastic hyperplasia|Pacman syndrome|epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome|pacman dysplasia ICD10:Q77.8|GARD:0004189|MESH:C538095|OMIM:167220|SCTID:722127006|Orphanet:1952|UMLS:C1833676 https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia owl:Class MONDO:0019707 biolink:NamedThing primary osteolysis tmpte7i6ely_mondo_relaxed.owl Orphanet:93449 owl:Class MONDO:0016514 biolink:NamedThing epidermolysis bullosa simplex with anodontia/hypodontia tmpte7i6ely_mondo_relaxed.owl Gamborg-Nielsen syndrome|Kallin syndrome Orphanet:2325|ICD10:Q81.0 owl:Class MONDO:0017610 biolink:NamedThing epidermolysis bullosa simplex Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex|epidermolysis bullosa intraepidermic|EBS|EEB OMIM:601001|GARD:0010752|OMIMPS:131760|OMIM:131960|NCIT:C84692|DOID:4644|OMIM:131800|ICD10:Q81.0|OMIM:131760|OMIM:615425|Orphanet:304|ICD9:757.39|SCTID:67144006|OMIM:131900|UMLS:C0079298|MESH:D016110 https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex owl:Class MONDO:0100204 biolink:NamedThing parainfluenza virus type 2 infectious disease A disease caused by infection with parainfluenza virus type 2. tmpte7i6ely_mondo_relaxed.owl infection due to human parainfluenza virus 2|infection caused by human parainfluenza virus 2|human rubulavirus 2 infectious disease OMOP:4289924 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class GO:2001151 biolink:NamedThing regulation of renal water transport Any process that modulates the frequency, rate or extent of renal water transport. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000089 biolink:NamedThing young adult stage Early adulthood that refers to an adult who is under 25. tmpte7i6ely_mondo_relaxed.owl 19-24 years owl:Class GO:0140039 biolink:NamedThing cell-cell adhesion in response to extracellular stimulus The attachment of one cell to another cell via adhesion molecules as a result of an extracellular stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011651 biolink:NamedThing intellectual disability, short stature, facial anomalies, and joint dislocations tmpte7i6ely_mondo_relaxed.owl intellectual disability, short stature, facial anomalies, and JOINT dislocations|mental retardation, short stature, facial anomalies, and JOINT dislocations OMIM:606220|MESH:C565248|UMLS:C1853507 owl:Class UBERON:0002112 biolink:NamedThing smooth muscle of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903303 biolink:NamedThing negative regulation of pyruvate kinase activity Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity. tmpte7i6ely_mondo_relaxed.owl downregulation of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of phosphoenol transphosphorylase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of phosphoenol transphosphorylase activity|inhibition of phosphoenol transphosphorylase activity|negative regulation of phosphoenol transphosphorylase activity|downregulation of phosphoenolpyruvate kinase activity|downregulation of phosphoenol transphosphorylase activity|down-regulation of phosphoenolpyruvate kinase activity|down regulation of phosphoenolpyruvate kinase activity|inhibition of pyruvate kinase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|downregulation of pyruvate kinase activity|down regulation of pyruvate kinase activity|inhibition of phosphoenolpyruvate kinase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of pyruvate kinase activity|negative regulation of phosphoenolpyruvate kinase activity owl:Class GO:1903302 biolink:NamedThing regulation of pyruvate kinase activity Any process that modulates the frequency, rate or extent of pyruvate kinase activity. tmpte7i6ely_mondo_relaxed.owl regulation of phosphoenolpyruvate kinase activity|regulation of ATP:pyruvate 2-O-phosphotransferase activity|regulation of phosphoenol transphosphorylase activity owl:Class MONDO:0006859 biolink:NamedThing mucinous cystadenoma A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpte7i6ely_mondo_relaxed.owl pseudomucinous cystadenoma|mucinous adenoma|adenoma, mucinous, benign|mucinous cystoma|mucinous cystadenoma EFO:1001048|UMLS:C0010635|NCIT:C2973|ICDO:8470/0|MESH:D018291|ICDO:8480/0 owl:Class MONDO:0002369 biolink:NamedThing cystadenoma A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. tmpte7i6ely_mondo_relaxed.owl cystoma|cystadenoma (morphologic abnormality)|cystadenoma|cystadenoma, benign NCIT:C2972|MESH:D003537|DOID:2634|UMLS:C0010633|ICDO:8440/0 owl:Class MONDO:0012243 biolink:NamedThing B-cell immunodeficiency, distal limb anomalies, and urogenital malformations tmpte7i6ely_mondo_relaxed.owl B-cell immunodeficiency, distal limb anomalies, and urogenital malformations|Hoffman syndrome|Bilu syndrome UMLS:C1836437|MESH:C563745|OMIM:609296 owl:Class NCBITaxon:1884637 biolink:NamedThing Cryptococcus gattii species complex tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035489 biolink:NamedThing branch of basilar artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009338 biolink:NamedThing hepatic veno-occlusive disease-immunodeficiency syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. tmpte7i6ely_mondo_relaxed.owl hepatic venoocclusive disease with immunodeficiency|familial veno-occlusive disease with immunodeficiency|VODI syndrome|VODI|veno-occlusive disease and immunodeficiency syndrome|hepatic veno-occlusive disease with immunodeficiency OMIM:235550|ICD10:K76.5|GARD:0010083|Orphanet:79124|MESH:C537257|UMLS:C1856128|SCTID:724361001 https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency owl:Class MONDO:0013698 biolink:NamedThing arthrogryposis, distal, type 1B tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, type 1B|DA1B OMIM:614335|DOID:0111598|UMLS:C3280526|Orphanet:1146 owl:Class MONDO:0015240 biolink:NamedThing digitotalar dysmorphism Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. tmpte7i6ely_mondo_relaxed.owl AMCD1|DA1|arthrogryposis multiplex congenita distal type 1|distal arthrogryposis type 1A (sub-type)|digitotalar dysmorphism|distal arthrogryposis type 1B (sub-type)|distal arthrogryposis type 1 OMIM:614335|OMIM:108120|ICD10:Q68.8|UMLS:C1852085|OMIM:616266|UMLS:C0220662|OMIM:126050|UMLS:CN197602|Orphanet:1146|GARD:0000787 https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1 owl:Class GO:0050878 biolink:NamedThing regulation of body fluid levels Any process that modulates the levels of body fluids. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044881 biolink:NamedThing hematopoietic and lymphoid cell neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. tmpte7i6ely_mondo_relaxed.owl hematopoietic neoplasms including Lymphomas|hematologic malignancy|malignant hematopoietic neoplasm|hematopoietic cell tumor|hematopoietic neoplasm|hematopoietic and lymphoid neoplasms|HEMOLYMPHORETICULAR tumor, malignant|hematopoietic cancer|malignant hematologic neoplasm|hematopoietic, Including myeloma|hematological neoplasm|hematological tumor|hematologic cancer|hematopoietic tumor|hematologic neoplasm|hematopoietic malignancy, NOS|hematopoietic and lymphoid cell neoplasm NCIT:C27134 owl:Class MONDO:0010121 biolink:NamedThing thrombocytopenia-absent radius syndrome Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. tmpte7i6ely_mondo_relaxed.owl thrombocytopenia absent radius syndrome|Tar syndrome|TAR syndrome|absent radii and thrombocytopenia|thrombocytopenia-absent radius syndrome|thrombocytopenia absent radii|TAR|radial aplasia-thrombocytopenia syndrome|chromosome 1Q21.1 deletion syndrome, 200-Kb|thrombocytopenia with absent radii (TAR) syndrome MESH:C536940|DOID:14699|ICD10:Q87.2|SCTID:85589009|GARD:0005116|NCIT:C99038|Orphanet:3320|ICD9:759.89|MedDRA:10071719|OMIM:274000|UMLS:C0175703 owl:Class MONDO:0014248 biolink:NamedThing autism spectrum disorder - epilepsy - arthrogryposis syndrome SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). tmpte7i6ely_mondo_relaxed.owl AMRS|SLC35A3-CDG|arthrogryposis, intellectual disability, and seizures|arthrogryposis, mental retardation, and seizures OMIM:615553|UMLS:C3809910|ICD10:Q87.8|Orphanet:370943 owl:Class HGNC:9305 biolink:NamedThing PPP2R2B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015050 biolink:NamedThing tarsus endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015063 biolink:NamedThing autopod endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004813 biolink:NamedThing seminiferous tubule epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006760 biolink:NamedThing fetal erythroblastosis A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. tmpte7i6ely_mondo_relaxed.owl haemolytic disease due to rhesus isoimmunisation|HDFN|erythroblastosis fetalis|hemolytic disease of the newborn|rhesus isoimmunisation of the newborn|EF - erythroblastosis foetalis|isoimmune hemolytic disease of the newborn|hemolytic disease of the fetus or newborn ICD9:773.2|UMLS:C0014761|ICD10:P55|EFO:1000937|ICD10:P55.9|SCTID:387705004|ICD9:773|DOID:1098|MESH:D004899|NCIT:C101304 owl:Class MONDO:0001245 biolink:NamedThing microcytic anemia Anemia in which the red blood cell volume is decreased. tmpte7i6ely_mondo_relaxed.owl NCIT:C35141|DOID:11252|MESH:C562385|HP:0001935|OMIM:206200|SCTID:234349007 owl:Class MONDO:0018958 biolink:NamedThing nemaline myopathy Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. tmpte7i6ely_mondo_relaxed.owl nemaline rod myopathy|nemaline rod disease|congenital rod disease|Rod body disease|NEM|nemaline myopathy|NM|nemaline body disease|rod myopathy|Rod-body myopathy DOID:3191|MESH:D017696|OMIMPS:161800|SCTID:75072002|Orphanet:607|UMLS:C0206157|GARD:0012033|ICD10:G71.2 owl:Class MONDO:0016110 biolink:NamedThing non-dystrophic myopathy A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. tmpte7i6ely_mondo_relaxed.owl non-dystrophic myotonia|non dystrophic myotonia Orphanet:206656|NCIT:C122787|UMLS:C1828221|SCTID:424795008 owl:Class MONDO:0021457 biolink:NamedThing benign neoplasm of pleura A benign neoplasm that involves the pleura. tmpte7i6ely_mondo_relaxed.owl benign tumor of the pleura|benign pleural tumor|benign tumor of pleura|benign neoplasm of the pleura|pleura benign neoplasm|benign pleural neoplasm ICD9:212.4|SCTID:92298003|NCIT:C3603|UMLS:C0153955 owl:Class HP:0005541 biolink:NamedThing Congenital agranulocytosis Congenital onset of a marked decrease in the number of granulocytes. tmpte7i6ely_mondo_relaxed.owl MSH:C537592|UMLS:C1853118|SNOMEDCT_US:89655007 human_phenotype owl:Class HP:0012234 biolink:NamedThing Agranulocytosis Marked decrease in the number of granulocytes. tmpte7i6ely_mondo_relaxed.owl UMLS:C0702094 Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. peter 2013-03-31T09:42:50Z human_phenotype owl:Class GO:0045191 biolink:NamedThing regulation of isotype switching Any process that modulates the frequency, rate or extent of isotype switching. tmpte7i6ely_mondo_relaxed.owl regulation of isotype switch recombination|regulation of class switching|regulation of class switch recombination owl:Class NCBITaxon:468 biolink:NamedThing Moraxellaceae tmpte7i6ely_mondo_relaxed.owl Acinetobacteraceae|Branhamaceae GC_ID:11|PMID:9542079 ncbi_taxonomy owl:Class NCBITaxon:72274 biolink:NamedThing Pseudomonadales tmpte7i6ely_mondo_relaxed.owl gamma-3 proteobacteria|Pseudomonaceae/Moraxellaceae group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0000618 biolink:NamedThing Her2-receptor negative breast cancer tmpte7i6ely_mondo_relaxed.owl DOID:0060080 Editor note: check why not in NCIT; note also that triple-negative should be classified here owl:Class MONDO:0006116 biolink:NamedThing breast carcinoma by gene expression profile A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma. tmpte7i6ely_mondo_relaxed.owl breast carcinoma by gene expression profile NCIT:C53553|UMLS:C3642344|EFO:1000143 owl:Class UBERON:0001534 biolink:NamedThing right subclavian artery tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:44185 biolink:NamedThing methotrexate tmpte7i6ely_mondo_relaxed.owl N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid|MTX|metotrexato|METHOTREXATE|Methotrexate|Emtexate|Trexall|Ledertrexate|4-amino-N(10)-methylpteroylglutamic acid|methotrexatum|methotrexate|4-amino-10-methylfolic acid|N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid|Rheumatrex owl:Class MONDO:0004574 biolink:NamedThing pyridoxine deficiency anemia Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. tmpte7i6ely_mondo_relaxed.owl deficiencies, vitamin B6|deficiency, B6 vitamin|vitamin B6 deficiency syndrome|pyridoxine Deficincy|deficiencies, B6 vitamin|deficiency, vitamin B6|B6 deficiencies, vitamin|B6 vitamin deficiencies|vitamin B6 deficiency|deficiency, pyridoxine|vitamin B6 deficiencies|B6 deficiency, vitamin|vitamin deficiencies, B6|vitamin deficiency, B6|deficiency, vitamin B 6|pyridoxine deficiency|B6 vitamin deficiency NCIT:C85221|DOID:8455|MESH:D026681|ICD9:281.8|ICD10:E53.1|SCTID:86448001|ICD9:266.1|GARD:0004616 owl:Class MONDO:0042976 biolink:NamedThing vitamin B deficiency A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. tmpte7i6ely_mondo_relaxed.owl vitamin B deficiencies|deficiency, vitamin B|deficiencies, vitamin B SCTID:47903000|NCIT:C35129|UMLS:C0042850|MESH:D014804 owl:Class MONDO:0019693 biolink:NamedThing multiple metaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl ICD10:Q78.5|Orphanet:93430 owl:Class HP:0001305 biolink:NamedThing Dandy-Walker malformation A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. tmpte7i6ely_mondo_relaxed.owl Dandy-walker anomaly|Dandy-Walker cyst UMLS:C0010964|MSH:D003616|SNOMEDCT_US:14447001 HP:0001313|HP:0006809 human_phenotype owl:Class HP:0002350 biolink:NamedThing Cerebellar cyst tmpte7i6ely_mondo_relaxed.owl Cerebellar cysts UMLS:C1847762 human_phenotype owl:Class UBERON:0000072 biolink:NamedThing proximo-distal subdivision of respiratory tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013522 biolink:NamedThing subdivision of tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014316 biolink:NamedThing Alzheimer disease 19 Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene. tmpte7i6ely_mondo_relaxed.owl Alzheimer disease 19, late-onset|AD19|PLD3 Alzheimer disease|Alzheimer disease 19 late onset|Alzheimer disease 19|Alzheimer's disease 19|Alzheimer disease caused by mutation in PLD3|Alzheimer's disease type 19|Alzheimer disease type 19 OMIM:615711|UMLS:C3810349|DOID:0110051 owl:Class HGNC:18129 biolink:NamedThing GHRL tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006811 biolink:NamedThing ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C37109 biolink:NamedThing Malignant Epithelial Spindle Cell tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C53637 biolink:NamedThing Malignant Spindle Cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019947 biolink:NamedThing rippling muscle disease 2 An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. tmpte7i6ely_mondo_relaxed.owl LGMD1C|muscular dystrophy limb-girdle type IC|CAV3 autosomal dominant limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to caveolin-3 deficiency|rippling muscle disease caused by mutation in CAV3|rippling muscle disease 2|RMD2|muscular dystrophy, limb-girdle, type 1C|muscular dystrophy, limb-girdle, type IC|limb-girdle muscular dystrophy type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|CAV3 rippling muscle disease|rippling muscle disease type 2 DOID:0060255|MONDO:0011910|Orphanet:97238|UMLS:C1832560|OMIM:606072|OMIM:600332|NCIT:C148325 owl:Class HP:0011032 biolink:NamedThing Abnormality of fluid regulation An abnormality of the regulation of body fluids. tmpte7i6ely_mondo_relaxed.owl Abnormality of fluid regulation|Fluid imbalance SNOMEDCT_US:190902006|UMLS:C2364164|SNOMEDCT_US:1860003 peter 2011-03-05T09:09:27Z human_phenotype owl:Class MONDO:0018375 biolink:NamedThing traumatic avascular necrosis tmpte7i6ely_mondo_relaxed.owl traumatic AVN ICD10:M87.2|Orphanet:399175 owl:Class MONDO:0018374 biolink:NamedThing secondary avascular necrosis tmpte7i6ely_mondo_relaxed.owl secondary AVN ICD10:M87.3|ICD10:M87.1|Orphanet:399169|ICD10:M87.2 owl:Class MONDO:0000640 biolink:NamedThing central nervous system primitive neuroectodermal neoplasm A neuroectodermal tumor that involves the central nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system PNET|CNS PNET|primitive neuroectodermal tumor of central nervous system|central nervous system primitive neuroectodermal tumor|central nervous system neuroectodermal tumor|central nervous system primitive neuroectodermal tumor (WHO grade IV)|central primitive neuroectodermal neoplasm|CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm|central primitive neuroectodermal tumor|CNS primitive neuroectodermal neoplasm NCIT:C5398|UMLS:CN201960|DOID:0060103 NCIT calls this CNS embryonal tumor, NOS owl:Class MONDO:0021481 biolink:NamedThing benign neoplasm of submandibular gland A benign neoplasm that involves the submandibular gland. tmpte7i6ely_mondo_relaxed.owl benign tumor of submandibular gland|benign submandibular gland neoplasm|benign neoplasm of the submandibular gland|benign submandibular gland tumor|benign tumor of the submandibular gland|submandibular gland benign neoplasm NCIT:C4891|SCTID:92415001|UMLS:C0685988 owl:Class MONDO:0019386 biolink:NamedThing progressive rubella panencephalitis A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age. tmpte7i6ely_mondo_relaxed.owl rubella panencephalitis https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis|UMLS:C1305924|SCTID:10082001|ICD10:B06.0+|Orphanet:83616|ICD10:G05.1* owl:Class UBERON:0001436 biolink:NamedThing phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015024 biolink:NamedThing manual digit phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002211 biolink:NamedThing B cell deficiency A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. tmpte7i6ely_mondo_relaxed.owl B cell (antibody) deficiencies|immunoglobulin heavy chain deficiency|deficiency of humoral immunity|immunoglobulin heavy chain deletion|B-cell deficiency DOID:2115|NCIT:C4799|ICD9:279.03 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 owl:Class HP:0010978 biolink:NamedThing Abnormality of immune system physiology A functional abnormality of the immune system. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023616 peter 2011-02-07T04:28:55Z human_phenotype owl:Class HP:0002715 biolink:NamedThing Abnormality of the immune system An abnormality of the immune system. tmpte7i6ely_mondo_relaxed.owl Immunological abnormality|Abnormality of the immune system UMLS:C4021753 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. HP:0010986|HP:0003346|HP:0003257 human_phenotype owl:Class MONDO:0016012 biolink:NamedThing diethylstilbestrol syndrome Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. tmpte7i6ely_mondo_relaxed.owl diethylstilbestrol embryofetopathy|fetal diethylstilbestrol syndrome|antenatal diethylstilbestrol exposure|DES embryofetopathy|DES syndrome|Distilbene embryofetopathy MedDRA:10012780|UMLS:C0853695|SCTID:716005004|NCIT:C113422|Orphanet:1916|ICD10:Q86.8|GARD:0001859 https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome owl:Class MONDO:0015908 biolink:NamedThing chromomycosis Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. tmpte7i6ely_mondo_relaxed.owl dermatitis Verrucosa|mossy foot disease|Chromomycosis|chromomycosis|Chromomycoses|Chromoblastomycoses|chromoblastomycosis SCTID:187079000|DOID:1562|ICD10:B43.0|Orphanet:182|GARD:0001319|UMLS:C0008582|ICD10:B43.1|ICD10:B43.8|UMLS:C3245522|MedDRA:10008803|ICD9:117.2|EFO:0007207|ICD10:B43.2|ICD10:B43.9|MESH:D002862 Editor note: check cutaneous vs subcutaneous owl:Class GO:0046835 biolink:NamedThing carbohydrate phosphorylation The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008395 biolink:NamedThing steroid hydroxylase activity Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. tmpte7i6ely_mondo_relaxed.owl cytochrome P450 CYP2G1|olfactory-specific steroid hydroxylase activity owl:Class GO:0004497 biolink:NamedThing monooxygenase activity Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. tmpte7i6ely_mondo_relaxed.owl hydroxylase activity owl:Class GO:2000284 biolink:NamedThing positive regulation of cellular amino acid biosynthetic process Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of cellular amino acid formation|positive regulation of cellular amino acid anabolism|positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis owl:Class GO:0031328 biolink:NamedThing positive regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl activation of cellular biosynthetic process|positive regulation of cellular synthesis|up regulation of cellular biosynthetic process|stimulation of cellular biosynthetic process|positive regulation of cellular formation|positive regulation of cellular biosynthesis|up-regulation of cellular biosynthetic process|upregulation of cellular biosynthetic process|positive regulation of cellular anabolism owl:Class CHEBI:38104 biolink:NamedThing oxacycle Any organic heterocyclic compound containing at least one ring oxygen atom. tmpte7i6ely_mondo_relaxed.owl heterocyclic organooxygen compounds|organooxygen heterocyclic compounds|oxacycles owl:Class UBERON:0004931 biolink:NamedThing submucosa of descending colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003331 biolink:NamedThing submucosa of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008043 biolink:NamedThing myoclonus-cerebellar ataxia-deafness syndrome This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl myoclonus, cerebellar ataxia, and deafness|myoclonus cerebellar ataxia deafness Orphanet:2589|OMIM:159800|MESH:C563549|UMLS:C1834579|GARD:0003873|ICD10:G11.1 owl:Class UBERON:0036654 biolink:NamedThing wall of lateral ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006656 biolink:NamedThing aortitis Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. tmpte7i6ely_mondo_relaxed.owl inflammation of aorta|aorta inflammation UMLS:C0003509|ICD10:I77.6|SCTID:70933002|DOID:519|NCIT:C97085|EFO:1000816|MESH:D001025|MedDRA:10002921 owl:Class MONDO:0004093 biolink:NamedThing esophageal basaloid carcinoma A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO) tmpte7i6ely_mondo_relaxed.owl basaloid squamous carcinoma of esophagus|esophageal basaloid carcinoma|basaloid squamous carcinoma of the esophagus|esophageal basaloid cancer|esophageal basaloid squamous cell carcinoma DOID:7051|UMLS:C1333443|NCIT:C7032 owl:Class MONDO:0005580 biolink:NamedThing esophageal squamous cell carcinoma Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third. tmpte7i6ely_mondo_relaxed.owl esophageal squamous cell carcinoma|esophageal squamous cell cancer|squamous cell carcinoma of the esophagus|esophagus squamous cell carcinoma|squamous cell carcinoma of esophagus|esophagus scc|esophageal scc|esophageal epidermoid carcinoma|scc of the esophagus|squamous cell car. - esophagus|scc of esophagus|ESCC EFO:0005922|ICD10:C15.0|SCTID:276804009|ICD10:C15.3|DOID:5041|ICD10:C15.1|ONCOTREE:ESCC|SCTID:372138000|OMIM:133239|UMLS:C0279626|DOID:3748|Orphanet:99977|ICD10:C15.4|MESH:C562729|NCIT:C4024 owl:Class CL:0000827 biolink:NamedThing pro-T cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. tmpte7i6ely_mondo_relaxed.owl pro-T lymphocyte|DN1 cell|TN1 cell|progenitor T cell|DN1 thymocyte cell owl:Class HGNC:3413 biolink:NamedThing EPM2A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007690 biolink:NamedThing early pharyngeal endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003258 biolink:NamedThing endoderm of foregut tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004924 biolink:NamedThing chronic canaliculitis Chronic form of actinomycosis. tmpte7i6ely_mondo_relaxed.owl actinomycosis, chronic|chronic actinomycosis SCTID:26479009|DOID:9936|ICD10:H04.42|ICD9:375.41|UMLS:C0155240 owl:Class MONDO:0004923 biolink:NamedThing chronic inflammation of lacrimal passage tmpte7i6ely_mondo_relaxed.owl ICD9:375.4|DOID:9935|ICD10:H04.4|UMLS:C0155239|SCTID:267653001 owl:Class MONDO:0004077 biolink:NamedThing lumbosacral lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine. tmpte7i6ely_mondo_relaxed.owl sacral region of vertebral column lipoma|lipoma of sacral region of vertebral column DOID:7017|UMLS:C1334438|NCIT:C6500 owl:Class MONDO:0000812 biolink:NamedThing vertebral column disorder A disease involving the vertebral column. tmpte7i6ely_mondo_relaxed.owl disease of spine|disease of vertebral column|vertebral column disease or disorder|disorder of vertebral column|spinal disease|disease or disorder of vertebral column|vertebral column disease ICD9:724.9|MESH:D013122|SCTID:699699005|UMLS:C0037933|DOID:0060564 owl:Class MONDO:0006733 biolink:NamedThing dry eye syndrome A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. tmpte7i6ely_mondo_relaxed.owl KCS|keratoconjunctivitis sicca|eye(s), dry|tear film insufficiency|dry eye(s)|sicca, keratoconjunctivitis|dry eye|dry eye syndrome DOID:12895|MedDRA:10013777|ICD9:375.15|EFO:1001001|DOID:10140|MESH:D015352|MESH:D007638|SCTID:46152009|NCIT:C34553|ICD10:H04.12|EFO:1000906|UMLS:C0022575|SCTID:302896008|MedDRA:100233350|UMLS:C0013238 owl:Class MONDO:0012205 biolink:NamedThing autosomal dominant striatal neurodegeneration type 1 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia. tmpte7i6ely_mondo_relaxed.owl striatal Degeneration, autosomal dominant 1|striatal degeneration, autosomal dominant 1|autosomal dominant striatal neurodegeneration|striatal degeneration, autosomal dominant|striatal degeneration, autosomal dominant caused by mutation in PDE8B|ADSD|PDE8B striatal degeneration, autosomal dominant|ADSD1 SCTID:725392005|OMIM:609161 owl:Class MONDO:0000211 biolink:NamedThing striatal degeneration, autosomal dominant An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. tmpte7i6ely_mondo_relaxed.owl ADSD|autosomal dominant striatal neurodegeneration MESH:C563783|Orphanet:228169|UMLS:C1836694|OMIMPS:609161 See genetic heterogeneity of OMIM 609161 smb. owl:Class CL:1000410 biolink:NamedThing myocyte of atrioventricular node A muscle cell that is part of the atrioventricular node. tmpte7i6ely_mondo_relaxed.owl atrioventricular node cell|atrioventricular node myocyte|AV node cell|AV node cardiac muscle cell|AV nodal myocyte FMA:67106 cell owl:Class CL:0002072 biolink:NamedThing nodal myocyte A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery. tmpte7i6ely_mondo_relaxed.owl myocytus nodalis|cardiac pacemaker cell|P cell|pacemaker cell FMA:67101|BTO:0004190 tmeehan 2010-06-29T11:41:37Z cell owl:Class CL:0000317 biolink:NamedThing sebum secreting cell A cell secreting sebun, an oily substance secreted by sebaceous glands, composed of keratin, fat, and cellular debris. tmpte7i6ely_mondo_relaxed.owl sebocyte cell owl:Class CL:2000021 biolink:NamedThing sebaceous gland cell Any native cell that is part of a sebaceous gland. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-24T23:17:00Z cell owl:Class MONDO:0013185 biolink:NamedThing leprosy, susceptibility to, 5 Any leprosy in which the cause of the disease is a mutation in the TLR1 gene. tmpte7i6ely_mondo_relaxed.owl leprosy, protection against|leprosy caused by mutation in TLR1|LPRS5|leprosy, susceptibility to, type 5|susceptibility to leprosy 5|TLR1 leprosy|leprosy, susceptibility to, 5 OMIM:613223|Orphanet:548 owl:Class CHEBI:76946 biolink:NamedThing fungal metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. tmpte7i6ely_mondo_relaxed.owl fungal metabolites owl:Class CHEBI:75763 biolink:NamedThing eukaryotic metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. tmpte7i6ely_mondo_relaxed.owl eukaryotic metabolites owl:Class MONDO:0009527 biolink:NamedThing lipase deficiency, combined A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. tmpte7i6ely_mondo_relaxed.owl lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|LPL and HL deficiency|LPL and HTGL deficiency|lipase deficiency, combined|lipase deficiency combined|combined lipase deficiency MESH:C535904|DOID:0111422|NCIT:C126558|OMIM:246650|GARD:0010244|UMLS:C1855498|Orphanet:535453 https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined owl:Class MONDO:0010682 biolink:NamedThing myoclonic epilepsy, progressive, X-linked tmpte7i6ely_mondo_relaxed.owl myoclonic epilepsy, progressive OMIM:310370|Orphanet:308|UMLS:C0751778 TODO check owl:Class MONDO:0009698 biolink:NamedThing Unverricht-Lundborg syndrome Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. tmpte7i6ely_mondo_relaxed.owl Unverricht-Lundborg syndrome|Unverricht-Lundborg disease|epilepsy, progressive myoclonic, 1A|epilepsy, progressive myoclonic type 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonus 1|Uld|Unverricht - Lundborg disease|ULD|myoclonus progressive epilepsy of Unverricht and Lundborg|myoclonic epilepsy of Unverricht and Lundborg|Baltic myoclonic epilepsy|progressive myoclonus epilepsy type 1|Unverricht's disease|EPM1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy type 1|progressive myoclonus epilepsy Baltic myoclonic epilepsy|PME type 1 MedDRA:10054895|DOID:3535|MESH:D020194|OMIM:254800|OMIM:310370|ICD10:G40.3|GARD:0003876|SCTID:230423006|OMIM:612437|UMLS:C0751785|Orphanet:308 owl:Class MONDO:0007287 biolink:NamedThing cataract 41 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene. tmpte7i6ely_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in WFS1|cataract 41, congenital nuclear type|cataract 41|congenital nuclear type cataract 41|WFS1 early-onset non-syndromic cataract|CTRCT41|cataract type 41 OMIM:116400|UMLS:C3805412|Orphanet:91492|ICD10:Q12.0|DOID:0110241|Orphanet:98991 owl:Class GO:0003332 biolink:NamedThing negative regulation of extracellular matrix constituent secretion Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003330 biolink:NamedThing regulation of extracellular matrix constituent secretion Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033683 biolink:NamedThing congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl MYSM1 deficiency Orphanet:508542 owl:Class MONDO:0015708 biolink:NamedThing immuno-osseous dysplasia tmpte7i6ely_mondo_relaxed.owl SCTID:254067002|Orphanet:169349 owl:Class MONDO:0008762 biolink:NamedThing autosomal recessive Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. tmpte7i6ely_mondo_relaxed.owl Alport syndrome recessive type|Alport syndrome autosomal recessive|nephropathy and deafness|Alport syndrome, autosomal recessive DOID:0110033|OMIM:203780|Orphanet:88919|ICD10:Q87.8|MedDRA:10001843|GARD:0000625|SCTID:717767009|Orphanet:63 https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome owl:Class MONDO:0004205 biolink:NamedThing lymphohistiocytoid mesothelioma tmpte7i6ely_mondo_relaxed.owl UMLS:C1334464|DOID:7381|NCIT:C27779 owl:Class MONDO:0006407 biolink:NamedThing sarcomatoid mesothelioma A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. tmpte7i6ely_mondo_relaxed.owl malignant fibrous mesothelioma (morphologic abnormality)|sarcomatoid mesothelioma (morphologic abnormality)|spindled mesothelioma|malignant fibrous mesothelioma|sarcomatoid mesothelioma NCIT:C45655|DOID:4488|EFO:1000521|UMLS:C0334513 owl:Class MONDO:0007294 biolink:NamedThing central core myopathy An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. tmpte7i6ely_mondo_relaxed.owl myopathy, central fibrillar|Shy-Magee syndrome|minicore myopathy, moderate, with hand involvement|neuromuscular disease, congenital, with uniform type 1 Fiber|multiminicore disease, moderate, with hand involvement|muscular central core disease|central CORE disease of muscle|myopathy, central core|multicore myopathy, moderate, with hand involvement|central core disease|CCD|Cco|muscle core disease SCTID:43152001|DOID:3529|NCIT:C83010|EFO:1000855|Orphanet:598|ICD10:G71.2|GARD:0006014|MESH:D020512|Orphanet:178145|UMLS:C0751951|Orphanet:597|OMIM:117000 owl:Class MONDO:0100150 biolink:NamedThing RYR1-related myopathy tmpte7i6ely_mondo_relaxed.owl RYR1-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007724 biolink:NamedThing hirsutism-skeletal dysplasia-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann-Oldigs-Oppermann syndrome|hirsutism, skeletal dysplasia, and mental retardation|Wiedemann Oldigs Oppermann syndrome|hirsutism skeletal dysplasia intellectual disability syndrome|hirsutism skeletal dysplasia mental retardation syndrome ICD10:Q87.8|Orphanet:2156|MESH:C536705|OMIM:142625|GARD:0005566|UMLS:C0795976 owl:Class UBERON:0010886 biolink:NamedThing hindlimb pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008426 biolink:NamedThing Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. tmpte7i6ely_mondo_relaxed.owl Marfanoid craniosynostosis syndrome|Shprintzen-Goldberg craniosynostosis syndrome|Marfanoid disorder with craniosynostosis, type 1|Marfanoid disorder with craniosynostosis type 1|Shprintzen-Goldberg syndrome|SGS|Marfanoid-craniosynostosis syndrome|Shprintzen-Goldberg marfanoid syndrome|craniosynostosis with arachnodactyly and abdominal hernias SCTID:719069008|NCIT:C124840|ICD10:Q87.8|Orphanet:2462|OMIM:182212|GARD:0004861|UMLS:C1321551 owl:Class MONDO:0017310 biolink:NamedThing Marfan and Marfan-related disorder tmpte7i6ely_mondo_relaxed.owl Orphanet:284993|UMLS:CN227112 owl:Class UBERON:0002307 biolink:NamedThing choroid plexus of lateral ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001886 biolink:NamedThing choroid plexus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001808 biolink:NamedThing negative regulation of type IV hypersensitivity Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl downregulation of type IV hypersensitivity|inhibition of type IV hypersensitivity|down regulation of type IV hypersensitivity|down-regulation of type IV hypersensitivity owl:Class GO:0002710 biolink:NamedThing negative regulation of T cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl inhibition of T cell mediated immunity|negative regulation of T lymphocyte mediated immunity|down regulation of T cell mediated immunity|negative regulation of T-cell mediated immunity|downregulation of T cell mediated immunity|down-regulation of T cell mediated immunity|negative regulation of T-lymphocyte mediated immunity owl:Class MONDO:0010537 biolink:NamedThing Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. tmpte7i6ely_mondo_relaxed.owl intellectual disability, epilepsy, and endocrine disorders|mental deficiency, epilepsy and endocrine disorders|intellectual disability-epilepsy-endocrine disorders syndrome|Borjeson-Forssman-Lehmann syndrome|Borjeson-FORSSMAN-Lehmann syndrome|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|MRXSBFL|Borjeson syndrome|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|mental retardation, epilepsy, and endocrine disorders|intellectual disability, epilepsy, and endocrine disorder|syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|BFLS|intellectual deficiency-epilepsy-endocrine disorders syndrome|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type|BORJ|mental retardation, epilepsy, and endocrine disorder MESH:C536575|DOID:0050681|SCTID:21634003|UMLS:C0265339|GARD:0000936|ICD10:Q87.8|ICD9:759.89|Orphanet:127|OMIM:301900 https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome owl:Class MONDO:0001239 biolink:NamedThing anemia of prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. tmpte7i6ely_mondo_relaxed.owl AOP ICD10:P61.2|ICD9:776.6|SCTID:47100003|DOID:11243|UMLS:C0158996|NCIT:C97167 owl:Class MONDO:0001240 biolink:NamedThing neonatal anemia The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. tmpte7i6ely_mondo_relaxed.owl anemia neonatal MESH:D000751|SCTID:234350007|DOID:11244|UMLS:C0002891 owl:Class HGNC:9208 biolink:NamedThing POR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011731 biolink:NamedThing glucose-galactose malabsorption Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. tmpte7i6ely_mondo_relaxed.owl Complex carbohydrate intolerance|GGM|monosaccharide malabsorption|glucose/galactose malabsorption|glucose-galactose malabsorption|SGLT1 deficiency|carbohydrate intolerance of glucose galactose|glucose galactose malabsorption deficiency MedDRA:10066388|ICD10:E74.3|Orphanet:35710|OMIM:606824|GARD:0006521|SCTID:190749000|MESH:C562602|ICD9:271.3 https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption owl:Class MONDO:0019226 biolink:NamedThing glucose transport disorder An acquired metabolic disease that is has its basis in the disruption of glucose transport. tmpte7i6ely_mondo_relaxed.owl inborn error of glucose transport|rare inborn error of glucose transport Orphanet:79178|UMLS:CN227593|ICD10:E74.8 owl:Class CHEBI:65296 biolink:NamedThing primary ammonium ion An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl a primary amine|substituted ammonium owl:Class MONDO:0013983 biolink:NamedThing ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic|ECTD11B|ectodermal dysplasia, anhidrotic|ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Orphanet:238468|OMIM:614941|Orphanet:248|UMLS:C3539920|DOID:0111654 owl:Class MONDO:0016619 biolink:NamedThing autosomal recessive hypohidrotic ectodermal dysplasia A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. tmpte7i6ely_mondo_relaxed.owl autosomal recessive anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia autosomal recessive|anhidrotic ectodermal dysplasia, autosomal recessive|AR-HED|hypohidrotic ectodermal dysplasia, autosomal recessive MESH:D053360|UMLS:C0406702|OMIM:224900|GARD:0002057|OMIM:614941|ICD10:Q82.4|SCTID:27025001|Orphanet:248|NCIT:C84580 https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive owl:Class UBERON:0005487 biolink:NamedThing vitelline vein tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000108 biolink:NamedThing cholinergic neuron A neuron that uses acetylcholine as a vesicular neurotransmitter. tmpte7i6ely_mondo_relaxed.owl WBbt:0006840|BTO:0004902|FMA:84796 cell owl:Class UBERON:0008430 biolink:NamedThing lumbar vertebral foramen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005744 biolink:NamedThing bone foramen tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902491 biolink:NamedThing negative regulation of sperm capacitation Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation. tmpte7i6ely_mondo_relaxed.owl downregulation of sperm capacitation|down regulation of sperm capacitation|inhibition of sperm activation|downregulation of sperm activation|down-regulation of sperm capacitation|negative regulation of sperm activation|down regulation of sperm activation|down-regulation of sperm activation|inhibition of sperm capacitation owl:Class MONDO:0018822 biolink:NamedThing global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). tmpte7i6ely_mondo_relaxed.owl UMLS:CN776946|Orphanet:480898 owl:Class MONDO:0013690 biolink:NamedThing Pitt-Hopkins-like syndrome 2 Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene. tmpte7i6ely_mondo_relaxed.owl Pitt-Hopkins-like syndrome type 2|PTHSL2|Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome 2|NRXN1 Pitt-Hopkins-like syndrome DOID:0111332|Orphanet:221150|UMLS:C3280479|OMIM:614325 owl:Class MONDO:0016224 biolink:NamedThing autosomal dominant proximal spinal muscular atrophy Autosomal dominant form of proximal spinal muscular atrophy. tmpte7i6ely_mondo_relaxed.owl proximal spinal muscular atrophy, autosomal dominant ICD10:G12.1|Orphanet:211037|UMLS:CN229044 owl:Class MONDO:0019079 biolink:NamedThing proximal spinal muscular atrophy Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpte7i6ely_mondo_relaxed.owl SMA EFO:0008929|OMIM:253300|ICD10:G12.1|Orphanet:70|UMLS:CN205570|ICD10:G12.0|UMLS:C4024957|OMIM:253550|GARD:0004531|OMIM:271150|OMIM:253400 https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy owl:Class MONDO:0010913 biolink:NamedThing Caroli disease Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl congenital polycystic dilatation of intrahepatic bile ducts|cystic dilatation of the intrahepatic biliary tree|Caroli disease isolated|CAROLI disease, isolated DOID:0050876|UMLS:C1833541|MedDRA:10013003|SCTID:717232005|Orphanet:53035|UMLS:C0162510|EFO:1001286|OMIM:600643|ICD10:Q44.6|GARD:0006002|MESH:D016767|NCIT:C84619 https://rarediseases.info.nih.gov/diseases/6002/caroli-disease owl:Class MONDO:0017300 biolink:NamedThing congenital pericardium anomaly Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst). tmpte7i6ely_mondo_relaxed.owl Orphanet:2846|ICD10:Q24.8|ICD9:746.89|SCTID:93018000 owl:Class GO:0022610 biolink:NamedThing biological adhesion The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:76969 biolink:NamedThing bacterial metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:75787 biolink:NamedThing prokaryotic metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. tmpte7i6ely_mondo_relaxed.owl prokaryotic metabolites owl:Class MONDO:0012412 biolink:NamedThing complement component 7 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene. tmpte7i6ely_mondo_relaxed.owl C7D|C7 deficiency|C7 classic complement early component deficiency|classic complement early component deficiency caused by mutation in C7|complement component 7 deficiency ICD10:D84.1|UMLS:C1864694|OMIM:610102|MESH:C566443|DOID:0060300|Orphanet:169150 owl:Class MONDO:0009320 biolink:NamedThing Hall-Riggs syndrome Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Hall Riggs intellectual disability syndrome|HALL-Riggs mental retardation syndrome|HALL-Riggs intellectual disability syndrome|Hall Riggs mental retardation syndrome ICD10:Q87.8|SCTID:721008000|Orphanet:2107|UMLS:C1856198|OMIM:234250|MESH:C535623|GARD:0002586 owl:Class MONDO:0025138 biolink:NamedThing vesicular exanthema of swine A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia. tmpte7i6ely_mondo_relaxed.owl swine vesicular exanthema|swine vesicular Exanthemas UMLS:C0042584|MESH:D014720 owl:Class MONDO:0012857 biolink:NamedThing porokeratosis 5, disseminated superficial actinic type tmpte7i6ely_mondo_relaxed.owl porokeratosis, disseminated superficial actinic, 3|POROK5|porokeratosis 5, disseminated superficial actinic type UMLS:C2676769|Orphanet:79152|MESH:C567356|OMIM:612293 owl:Class MONDO:0019212 biolink:NamedThing disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. tmpte7i6ely_mondo_relaxed.owl Orphanet:79152|OMIM:614714|OMIM:612353|ICD9:692.75|OMIM:175900|SCTID:41495000|OMIM:616063|OMIM:612293|GARD:0010983|OMIM:616631|OMIM:607728|ICD10:Q82.8 owl:Class MONDO:0001822 biolink:NamedThing hypolipoproteinemia Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). tmpte7i6ely_mondo_relaxed.owl hypolipoproteinaemia|hypolipoproteinemia (disease)|hypolipoproteinemia|lipoprotein deficiencies hypolipoproteinemia (disease) SCTID:363140000|MESH:D007009|HP:0010981|GARD:0008394|DOID:1387|ICD9:272.5|ICD10:E78.6 owl:Class CHEBI:38869 biolink:NamedThing general anaesthetic Substance that produces loss of consciousness. tmpte7i6ely_mondo_relaxed.owl Allgemeinanaesthetikum|general anaesthetic|general anaesthetics|Allgemeinanaesthetika|general anesthetics owl:Class CHEBI:38867 biolink:NamedThing anaesthetic Substance which produces loss of feeling or sensation. tmpte7i6ely_mondo_relaxed.owl anesthetics|anaesthetics|anesthetic agent|Anaesthetikum|Anaesthetika|anesthetic drug|anaesthetic owl:Class GO:0050870 biolink:NamedThing positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. tmpte7i6ely_mondo_relaxed.owl activation of T cell activation|up-regulation of T cell activation|positive regulation of T-cell activation|stimulation of T cell activation|upregulation of T cell activation|positive regulation of T lymphocyte activation|up regulation of T cell activation|positive regulation of T-lymphocyte activation owl:Class MONDO:0017453 biolink:NamedThing fetal parvovirus syndrome Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. tmpte7i6ely_mondo_relaxed.owl Human parvovirus B19 infectious embryofetopathy|fifth disease|Parvovirus B19 antenatal infection|Maternofetal infection by parvovirus|mother-to-child transmission of parvovirus syndrome|Human parvovirus B19 caused infectious embryofetopathy|Parvovirus antenatal infection MESH:C536301|SCTID:715197005|ICD10:P35.8|Orphanet:295|GARD:0002310|GARD:0004236 owl:Class MONDO:0004172 biolink:NamedThing uterine corpus adenocarcinofibroma A adenocarcinofibroma that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl adenocarcinofibroma of body of uterus|body of uterus adenocarcinofibroma DOID:7281 owl:Class MONDO:0002991 biolink:NamedThing adenocarcinofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma. tmpte7i6ely_mondo_relaxed.owl adenofibroma, malignant|malignant adenofibroma|adenocarcinofibroma DOID:4422|NCIT:C40035|UMLS:C1510778 owl:Class MONDO:0000290 biolink:NamedThing primary amebic meningoencephalitis A infectious disease involving the Naegleria fowleri. tmpte7i6ely_mondo_relaxed.owl infections, Naegleria fowleri|Naegleria fowleri infection MESH:C535275|UMLS:C0300934|GARD:0009554|UMLS:C4303098|DOID:0050242|SCTID:721816008 owl:Class MONDO:0002428 biolink:NamedThing protozoa infectious disease An infection that is caused by protozoans. tmpte7i6ely_mondo_relaxed.owl protozoal infection|parasitic protozoa infectious disease|sarcomastigophora infectious disease|Mastigophora infectious disease NCIT:C34953|ICD10:B64|ICD10:B50-B64|MESH:D011528|DOID:2789 owl:Class MONDO:0004285 biolink:NamedThing pancreatic intraductal papillary-mucinous carcinoma A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations. tmpte7i6ely_mondo_relaxed.owl intraductal papillary-colloid carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of pancreas|pancreatic intraductal papillary-mucinous carcinoma|intraductal papillary-mucinous carcinoma of the pancreas|intraductal papillary mucinous carcinoma of pancreas|pancreatic intraductal papillary-colloid carcinoma|intraductal papillary-colloid carcinoma of pancreas|intraductal papillary-colloidal carcinoma of pancreas|pancreatic intraductal papillary-colloidal carcinoma|pancreatic intraductal papillary mucinous carcinoma|intraductal papillary-colloidal carcinoma of the pancreas Orphanet:424058|DOID:7574|UMLS:C1335304|NCIT:C5725|ICD10:C25.3 owl:Class MONDO:0005192 biolink:NamedThing exocrine pancreatic carcinoma A carcinoma that arises from epithelial cells of the exocrine pancreas tmpte7i6ely_mondo_relaxed.owl carcinoma of pancreas|carcinoma of the pancreas|pancreatic cancer (not islets)|exocrine cancer|carcinoma of exocrine pancreas|pancreas cancer|pancreatic carcinoma|cancer of pancreas|pancreatic cancer|pancreas carcinoma|exocrine pancreas carcinoma|pancreatic carcinoma, familial|cancer of the pancreas DOID:4905|SCTID:372142002|OMIM:260350|NCIT:C3850|EFO:0002618|UMLS:C0235974 owl:Class PATO:0001748 biolink:NamedThing invaginated A shape quality in which a portion of the outermost boundary of an entity folds in space such that a portion that was originally convex is now concave. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001857 biolink:NamedThing concave A shape quality in a bearer by virtue of the bearer's curving inward. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001872 biolink:NamedThing parietal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016526 biolink:NamedThing lobe of cerebral hemisphere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008179 biolink:NamedThing paroxysmal extreme pain disorder Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. tmpte7i6ely_mondo_relaxed.owl submandibular, ocular, and rectal pain with flushing|familial rectal pain|rectal pain, familial|paroxysmal extreme pain disorder|familial rectal syndrome|pain, submandibular, ocular, and rectal, with flushing|PEPD|Pexpd UMLS:C1833661|MESH:C563475|ICD9:349.89|NCIT:C125385|GARD:0012854|OMIM:167400|Orphanet:46348|DOID:0111537|SCTID:699190008 https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder owl:Class UBERON:0003890 biolink:NamedThing Mullerian duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020148 biolink:NamedThing syndromic aniridia A aniridia that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with aniridia|syndromic aniridia Orphanet:98557|UMLS:CN227798 owl:Class HGNC:11025 biolink:NamedThing SLC3A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020947 biolink:NamedThing parasitic eye infection Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. tmpte7i6ely_mondo_relaxed.owl OCULAR INFECT PARASITIC|EYE INFECT PARASITIC|Eye Infections, Parasitic|Parasitic Eye Infections|Parasitic Ocular Infections|Infection, Parasitic Ocular|Parasitic eye infection|Infections, Parasitic Ocular|Parasitic Eye Infection|Ocular Infections, Parasitic|Infections, Parasitic Eye|parasitic eye infection|PARASITIC EYE INFECT|Infection, Parasitic Eye|Ocular Infection, Parasitic|Parasitic Ocular Infection|Eye Infection, Parasitic UMLS:C0015406|SCTID:312418006|MESH:D015822|ICD9:136.9 owl:Class MONDO:0700008 biolink:NamedThing chromosome 1 disorder Chromosomal disorder in which chromosome 1 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0020336 biolink:NamedThing autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant form of Emery-Dreifuss muscular dystrophy. tmpte7i6ely_mondo_relaxed.owl Emery-Dreifuss muscular dystrophy, autosomal dominant|EDMD2|autosomal dominant Emery-Dreifuss muscular dystrophy OMIM:612998|OMIM:612999|GARD:0002101|Orphanet:98853|UMLS:C0410190|ICD10:G71.0|OMIM:181350|OMIM:614302 owl:Class GO:0045910 biolink:NamedThing negative regulation of DNA recombination Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. tmpte7i6ely_mondo_relaxed.owl down-regulation of DNA recombination|down regulation of DNA recombination|downregulation of DNA recombination|inhibition of DNA recombination owl:Class GO:0000018 biolink:NamedThing regulation of DNA recombination Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007972 biolink:NamedThing Meniere disease A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. tmpte7i6ely_mondo_relaxed.owl Mnire's vertigo|Meniere disease|Meniere's disease|otogenic vertigo ICD10:H81.09|EFO:0006862|MESH:D008575|OMIM:156000|Orphanet:45360|UMLS:C0025281|ICD10:H81.0|DOID:9849|ICD9:386.0|ICD9:386.00|SCTID:13445001 owl:Class MONDO:0016572 biolink:NamedThing central bilateral macrogyria Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.8|UMLS:C4303949|SCTID:720632004|Orphanet:2431 owl:Class MONDO:0017094 biolink:NamedThing cerebral cortical dysplasia Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay. tmpte7i6ely_mondo_relaxed.owl cortical dysplasia|brain cortical dysplasia ICD10:Q04.8|SCTID:253153000|Orphanet:268950|MESH:D054220|NCIT:C42088 owl:Class GO:0099577 biolink:NamedThing regulation of translation at presynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099171 biolink:NamedThing presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011853 biolink:NamedThing Camptosynpolydactyly, complex tmpte7i6ely_mondo_relaxed.owl CCSPD|camptopolydactyly, disorganization type|camptosynpolydactyly, complex OMIM:607539|MESH:C564383|UMLS:C1843758 owl:Class MONDO:0012269 biolink:NamedThing chromosome 3q29 microdeletion syndrome 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. tmpte7i6ely_mondo_relaxed.owl 3q29 deletion|chromosome 3q29 deletion syndrome|3q29 microdeletion syndrome|Del(3)(q29)|monosomy 3qter|3q29 deletion syndrome|3q subtelomere deletion syndrome|3qter deletion|monosomy 3q29|microdeletion 3Q29 syndrome DOID:0060419|SCTID:716456000|UMLS:C2674949|GARD:0011974|ICD10:Q93.5|Orphanet:65286|OMIM:609425|MESH:C567184 owl:Class MONDO:0016902 biolink:NamedThing partial deletion of the long arm of chromosome 3 tmpte7i6ely_mondo_relaxed.owl partial deletion of the long arm of chromosome type 3|partial deletion of chromosome 3q|partial monosomy of the long arm of chromosome 3|partial monosomy of chromosome 3q ICD10:Q93.5|Orphanet:262019 owl:Class NCBITaxon:76803 biolink:NamedThing Arteriviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2499398 biolink:NamedThing Arnidovirineae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004297 biolink:NamedThing lymphoepithelioma-like thymic carcinoma A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. tmpte7i6ely_mondo_relaxed.owl thymic lymphoepithelioma-like carcinoma|malignant lymphoepithelial thymoma|lymphoepithelioma-like thymic carcinoma|lymphoepithelial cancer of the Thymus|lymphoepithelioma-like Thymus carcinoma|lymphoepithelial Thymus cancer|lymphoepithelial cancer of Thymus|lymphoepithelioma-like carcinoma of the Thymus|lymphoepithelioma-like carcinoma of Thymus NCIT:C7998|DOID:7599|UMLS:C0279706 owl:Class MONDO:0021845 biolink:NamedThing Aloi Tomasini Isaia syndrome A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl basal cell nevus anodontia abnormal bone mineralization|unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization|basal cell nevus, anodontia, abnormal bone mineralization GARD:0000417|GARD:0000831|UMLS:C2931405|MESH:C537049 https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome|https://github.com/monarch-initiative/mondo/issues/3700 owl:Class MONDO:0013796 biolink:NamedThing chromosome 17q12 duplication syndrome 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. tmpte7i6ely_mondo_relaxed.owl 17q12 microduplication|trisomy 17q12|chromosome 17q12 duplication syndrome|17q12 duplication|recurrent duplication of 17q12|dup(17)(q12)|17q12 microduplication syndrome GARD:0013296|ICD10:Q92.3|UMLS:C3281137|Orphanet:261272|DOID:0060433|SCTID:764435003|OMIM:614526 owl:Class MONDO:0017501 biolink:NamedThing congenital absence of both lower leg and foot, bilateral tmpte7i6ely_mondo_relaxed.owl tibiofibular terminal transverse meromelia, bilateral ICD10:Q72.23|Orphanet:295099|ICD10:Q72.2 owl:Class MONDO:0030928 biolink:NamedThing microcephaly 26, primary, autosomal dominant tmpte7i6ely_mondo_relaxed.owl microcephaly 26, primary, autosomal dominant|MCPH26 OMIM:619179 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0007988 biolink:NamedThing autosomal dominant primary microcephaly Autosomal dominant form of microcephaly (disease). tmpte7i6ely_mondo_relaxed.owl microcephaly with autosomal dominant inheritance|autosomal dominant microcephaly|microcephaly, autosomal dominant|microcephaly (disease), autosomal dominant|autosomal dominant primary microcephaly|microcephaly autosomal dominant ICD10:Q02|Orphanet:2514|GARD:0003605|UMLS:C4755316|OMIM:156580|MESH:C537323|DOID:14725|OMIM:616311 https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant|https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0017755 biolink:NamedThing inborn disorder of bilirubin metabolism An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary bilirubin metabolism disease|bilirubin metabolism disorder|disorder of bilirubin metabolism and excretion|inborn disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism Orphanet:309816|UMLS:CN227200 owl:Class MONDO:0017754 biolink:NamedThing inborn disorder of porphyrin metabolism An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of porphyrin and haem metabolism|inborn porphyrin-containing compound metabolic process disorder|rare inborn error of porphyrin-containing compound metabolic process|inborn error of porphyrin-containing compound metabolic process|inherited disorder of porphyrin metabolism|inborn disorder of porphyrin and haem metabolism ICD10:E80.3|ICD10:E80.4|ICD10:E80.2|ICD10:E80.5|ICD10:E80.6|SCTID:403832004|ICD10:E80.1|ICD10:E80.0|ICD10:E80.7|Orphanet:309813|UMLS:C1275125 Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. owl:Class MONDO:0012958 biolink:NamedThing multiple sclerosis, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl MS4|multiple sclerosis, susceptibility to, 4 OMIM:612596 owl:Class MONDO:0020805 biolink:NamedThing benign basal cell neoplasm A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl benign basal cell tumor NCIT:C4743 owl:Class MONDO:0032580 biolink:NamedThing nephrotic syndrome, type 17 tmpte7i6ely_mondo_relaxed.owl NPHS17|NEPHROTIC SYNDROME, TYPE 17 DOID:0080392|OMIM:618176 owl:Class MONDO:0000405 biolink:NamedThing anal canal cancer A malignant neoplasm involving the anal canal tmpte7i6ely_mondo_relaxed.owl malignant anal canal neoplasm|anal canal cancer|malignant neoplasm of anal canal|cancer of anal canal DOID:0050688|SCTID:363352004|ICD9:154.2|UMLS:C0153445 owl:Class CL:0000138 biolink:NamedThing chondrocyte Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell. tmpte7i6ely_mondo_relaxed.owl cartilage cell BTO:0000249|FMA:66782|CALOHA:TS-0138 cell owl:Class OBO:CHR_9606-chr21 biolink:NamedThing chromosome 21 (Human) tmpte7i6ely_mondo_relaxed.owl 21 46709983 0 hg38 owl:Class GO:2000819 biolink:NamedThing regulation of nucleotide-excision repair Any process that modulates the frequency, rate or extent of nucleotide-excision repair. tmpte7i6ely_mondo_relaxed.owl regulation of pyrimidine-dimer repair, DNA damage excision|regulation of interstrand crosslink repair|regulation of intrastrand cross-link repair|regulation of NER owl:Class UBERON:0005843 biolink:NamedThing sacral spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006889 biolink:NamedThing paraphimosis A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene. tmpte7i6ely_mondo_relaxed.owl MedDRA:10033890|SCTID:13758004|MESH:D010263|NCIT:C34893|DOID:5334|UMLS:C0030483|EFO:1001086|ICD10:N47.2 owl:Class MONDO:0006904 biolink:NamedThing phimosis A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes. tmpte7i6ely_mondo_relaxed.owl tight frenulum|tight foreskin ICD10:N47.1|MESH:D010688|DOID:2712|NCIT:C26852|MedDRA:10034878|SCTID:449826002|EFO:1001104 owl:Class MONDO:0021495 biolink:NamedThing benign neoplasm of sublingual gland A benign neoplasm that involves the sublingual gland. tmpte7i6ely_mondo_relaxed.owl sublingual gland benign neoplasm|benign sublingual gland neoplasm|benign sublingual gland tumor|benign tumor of the sublingual gland|benign neoplasm of the sublingual gland|benign tumor of sublingual gland NCIT:C4601|SCTID:92413008|UMLS:C0347208 owl:Class HP:0031466 biolink:NamedThing Impairment in personality functioning A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. tmpte7i6ely_mondo_relaxed.owl 2017-09-17 16:30:45+00:00 The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time. peter human_phenotype owl:Class HP:0000708 biolink:NamedThing Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. tmpte7i6ely_mondo_relaxed.owl Behavioural disturbances|Behavioural changes|Behavioural disorders|Behavioural problems|Behavioral disturbances|Behavioural/Psychiatric abnormality|Psychiatric disorders|Behavioral/psychiatric abnormalities|Psychiatric disturbances|Behavioral abnormality|Behavioral disorders|Behavioural abnormality|Behavioral changes|Behavioural symptoms|Behavioral symptoms|Behavioral problems UMLS:C0004941|MSH:D000066553|MSH:D001526|SNOMEDCT_US:25786006|UMLS:C0233514|SNOMEDCT_US:277843001 HP:0002368|HP:0000715|HP:0002456 human_phenotype owl:Class NCBITaxon:1870884 biolink:NamedThing Clostridioides tmpte7i6ely_mondo_relaxed.owl PMID:27902176|PMID:27370902|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:186804 biolink:NamedThing Peptostreptococcaceae tmpte7i6ely_mondo_relaxed.owl Clostridium cluster XI GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003113 biolink:NamedThing extragonadal germ cell cancer A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpte7i6ely_mondo_relaxed.owl extragonadal germ cell tumor, malignant|malignant tumor of extragonadal germ cell|extragonadal germ cell malignant tumor|malignant neoplasm of extragonadal germ cell|malignant neoplasm of the extragonadal germ cell|malignant tumor of the extragonadal germ cell|tumor of extragonadal germ cell|malignant extragonadal germ cell tumor UMLS:C0262963|NCIT:C8881|DOID:4717|UMLS:C1334581|NCIT:C3918 owl:Class UBERON:0010335 biolink:NamedThing maxillary process mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013247 biolink:NamedThing male paramesonephric duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009134 biolink:NamedThing congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. tmpte7i6ely_mondo_relaxed.owl anemia, congenital dyserythropoietic, type 2|dyserythropoietic Anemia, hempas type|CDAN2|SEC23B-CDG|hempas anemia|dyserythropoietic Anemia, congenital, type 2|Cda 2|congenital dyserythropoietic anemia type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|anemia, congenital dyserythropoietic, type II|anemia, dyserythropoietic, congenital type 2|CDA type II|CDA II|hereditary erythroblastic multinuclearity with Positive acidified-serum test|CDA type 2 OMIM:224100|Orphanet:98873|ICD10:D64.4|DOID:0111401|GARD:0002001|SCTID:68870007|ICD9:285.8 owl:Class MONDO:0017749 biolink:NamedThing disorder of multiple glycosylation tmpte7i6ely_mondo_relaxed.owl Orphanet:309526|ICD10:E77.8|UMLS:CN227195 owl:Class MONDO:0012357 biolink:NamedThing glaucoma 1, open angle, G Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene. tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, G|open-angle glaucoma caused by mutation in WDR36|GLC1G|WDR36 open-angle glaucoma|glaucoma 1, open angle, type G UMLS:C1835933|MESH:C563692|OMIM:609887 owl:Class MONDO:0002547 biolink:NamedThing nerve sheath neoplasm A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor. tmpte7i6ely_mondo_relaxed.owl nerve sheath neoplasm|tumor of nerve sheath|peripheral nerve sheath neoplasm|neoplasm of nerve sheath|nerve sheath tumor|neoplasm of the nerve sheath|nerve sheath tumour NCIT:C4972|ONCOTREE:NST|MESH:D018317|DOID:3193 owl:Class MONDO:0000471 biolink:NamedThing tricuspid valve disorder A disease involving the tricuspid valve. tmpte7i6ely_mondo_relaxed.owl tricuspid valve disease or disorder|disorder of tricuspid valve|tricuspid disease|tricuspid valve disorder|rheumatic disease of tricuspid valve|tricuspid valve disease|RH. tricuspid valve disease|disease of tricuspid valve|disease or disorder of tricuspid valve|rheumatic tricuspid valve disease UMLS:C0264882|SCTID:20721001|UMLS:C0264776|ICD9:397.0|NCIT:C78649|DOID:0050826|ICD10:I07.9|ICD10:I07 owl:Class UBERON:0000378 biolink:NamedThing tongue muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010959 biolink:NamedThing craniocervical muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000325 biolink:NamedThing gastric gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054765 biolink:NamedThing amyloidosis, primary localized cutaneous, 3 tmpte7i6ely_mondo_relaxed.owl amyloidosis, PRIMARY LOCALIZED cutaneous, 3|PLCA3|amyloidosis cutis dyschromica OMIM:617920 owl:Class MONDO:0007101 biolink:NamedThing familial primary localized cutaneous amyloidosis tmpte7i6ely_mondo_relaxed.owl primary localized cutaneous amyloidosis|FPLCA|hereditary primary cutaneous amyloidosis ICD10:E85.4+|ICD10:L99.0*|UMLS:CN204529|MESH:C562643|Orphanet:353220|OMIM:105250|OMIM:613955|Orphanet:137807|OMIMPS:105250 owl:Class HGNC:10908 biolink:NamedThing SLC11A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008328 biolink:NamedThing glaucoma 1, open angle, P tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, P|GLC1P|glaucoma 1, open angle, type P OMIM:177700|UMLS:C3888338 owl:Class MONDO:0010858 biolink:NamedThing macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl macrocephaly with spastic paraplegia and distinctive craniofacial appearance|Fryns macrocephaly OMIM:600302|MESH:C563963|Orphanet:2429|SCTID:716108004|UMLS:C1838281|ICD10:Q87.8 owl:Class MONDO:0017915 biolink:NamedThing pure or complex autosomal recessive spastic paraplegia tmpte7i6ely_mondo_relaxed.owl Pure or complicated autosomal recessive spastic paraplegia Orphanet:320346|ICD10:G11.4 owl:Class HP:0011016 biolink:NamedThing Abnormality of urine glucose concentration An abnormality of the concentration of glucose in the urine. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023596 peter 2011-02-21T11:09:32Z human_phenotype owl:Class HP:0033354 biolink:NamedThing Abnormal urine metabolite level Any deviation from the normal concentration of a metabolite in urine. tmpte7i6ely_mondo_relaxed.owl 2020-12-01 12:00:51+00:00 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. peter human_phenotype owl:Class MONDO:0010641 biolink:NamedThing X-linked diffuse leiomyomatosis-Alport syndrome The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. tmpte7i6ely_mondo_relaxed.owl chromosome Xq22.3 centromeric deletion syndrome|leiomyomatosis, diffuse, with Alport syndrome|DL-ATS|ATS-DL|Xq22.3 microdeletion syndrome|leiomyomatosis, esophageal and vulval, with nephropathy|Alport syndrome with diffuse leiomyomatosis|diffuse leiomyomatosis in Alport syndrome|Alport syndrome and diffuse leiomyomatosis OMIM:150700|ICD10:Q87.8|GARD:0002432|MESH:C537113|OMIM:308940|Orphanet:1018 owl:Class MONDO:0008608 biolink:NamedThing Down syndrome Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. tmpte7i6ely_mondo_relaxed.owl Down's syndrome|Downs syndrome|G trisomy|trisomy 21 syndrome|complete trisomy 21 syndrome|Down syndrome critical region|trisomy 21 (Down syndrome)|Down syndrome|leukemia, megakaryoblastic, of Down syndrome|Down syndrome chromosome region|trisomy 21|transient myeloproliferative disorder of Down syndrome|Down's syndrome - trisomy 21 NIFSTD:nlx_dys_20090502|OMIM:190685|Orphanet:870|ICD10:Q90.0|MedDRA:10044688|ICD10:Q90.9|MESH:D004314|GARD:0010247|UMLS:C0013080|DOID:14250|ICD10:Q90.1|ICD9:758.0|SCTID:41040004|ICD10:Q90|NCIT:C2993|ICD10:Q90.2|EFO:0001064 May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future owl:Class MONDO:0001715 biolink:NamedThing basilar artery occlusion tmpte7i6ely_mondo_relaxed.owl DOID:13446|ICD9:433.00|ICD9:433.01|SCTID:195180004|ICD9:433.0|ICD10:I65.1 owl:Class MONDO:0001258 biolink:NamedThing vertebral artery occlusion tmpte7i6ely_mondo_relaxed.owl occlusion and stenosis of vertebral artery|vertebrobasial artery occlusion|vertebral artery occlusion ICD9:433.2|DOID:11299|SCTID:195182007|ICD9:433.20|ICD9:433.21|ICD10:I65.0 owl:Class UBERON:0037455 biolink:NamedThing wall of female urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036521 biolink:NamedThing wall of urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005110 biolink:NamedThing metanephric nephron tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001285 biolink:NamedThing nephron tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054665 biolink:NamedThing pituitary adenoma 3, multiple types tmpte7i6ely_mondo_relaxed.owl PITA3|pituitary adenoma 3, multiple types UMLS:C4540135|OMIM:617686 owl:Class MONDO:0017824 biolink:NamedThing familial isolated pituitary adenoma tmpte7i6ely_mondo_relaxed.owl FIPA ICD10:D35.2|Orphanet:314777|SCTID:702375004|OMIM:600634|OMIM:102200|OMIMPS:102200|UMLS:CN244420|UMLS:CN239192 Editor note: TODO check this owl:Class MONDO:0033202 biolink:NamedThing hearing loss, autosomal recessive 109 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 109|DFNB109 UMLS:CN248519|DOID:0111639|OMIM:618013 owl:Class GO:0034765 biolink:NamedThing regulation of ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl regulation of transmembrane ion transport|regulation of ion membrane transport owl:Class HGNC:19440 biolink:NamedThing SBDS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004628 biolink:NamedThing gastroduodenitis tmpte7i6ely_mondo_relaxed.owl peptic ulcer gastroduodenitis|gastritis and duodenitis|gastroduodenitis DOID:8644|ICD9:535.50|SCTID:196731005|UMLS:C0267166|ICD9:535.4 owl:Class MONDO:0060782 biolink:NamedThing premalignant hematological system disease A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes. tmpte7i6ely_mondo_relaxed.owl premalignant hematologic condition NCIT:C27274|UMLS:C1335471 owl:Class CHEBI:17790 biolink:NamedThing methanol The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group. tmpte7i6ely_mondo_relaxed.owl wood naphtha|CH3OH|MeOH|methanol|Methyl alcohol|Methylalkohol|METHANOL|carbinol|wood spirit|spirit of wood|wood alcohol|Methanol owl:Class MONDO:0022171 biolink:NamedThing chromhidrosis A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms. tmpte7i6ely_mondo_relaxed.owl secretion of colored sweat|chromhidrosis GARD:0010749|SCTID:26147006|ICD9:705.89|ICD10:L75.1 https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis owl:Class MONDO:0024467 biolink:NamedThing apocrine sweat gland disorder A disease that involves the apocrine sweat gland. tmpte7i6ely_mondo_relaxed.owl disease of apocrine sweat gland|apocrine sweat gland disease or disorder|disease or disorder of apocrine sweat gland|apocrine sweat gland disease|disorder of apocrine sweat gland ICD10:L75 owl:Class MONDO:0005906 biolink:NamedThing peritonsillar abscess An abscess that develops in the space surrounding one or both palatine tonsils. tmpte7i6ely_mondo_relaxed.owl quinsy MESH:D000039|ICD10:J36|UMLS:C0031157|NCIT:C128322|EFO:0007429|SCTID:15033003|ICD9:475 owl:Class PATO:0001190 biolink:NamedThing juvenile A maturity quality inhering in a bearer by virtue the bearer's being not fully grown or developed. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000261 biolink:NamedThing maturity A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140056 biolink:NamedThing organelle localization by membrane tethering The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022406 biolink:NamedThing membrane docking The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. tmpte7i6ely_mondo_relaxed.owl membrane docking owl:Class HGNC:6649 biolink:NamedThing LMOD3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001118 biolink:NamedThing lobe of thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035075 biolink:NamedThing thymus subunit tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015929 biolink:NamedThing hexosaminidase activity Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004553 biolink:NamedThing hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of any O-glycosyl bond. tmpte7i6ely_mondo_relaxed.owl O-glucosyl hydrolase activity owl:Class CL:0000566 biolink:NamedThing angioblastic mesenchymal cell A mesenchymal stem cell capable of developing into blood vessel endothelium. tmpte7i6ely_mondo_relaxed.owl angioblast|chondroplast These cells are reportedly CD31-positive, CD34-positive, CD144-positive, CD309-positive, and TAL1-positive. cell owl:Class UBERON:0003520 biolink:NamedThing pelvis blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008369 biolink:NamedThing proximal renal tubular acidosis Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. tmpte7i6ely_mondo_relaxed.owl renal tubular acidosis type 2|Type 2 renal tubular acidosis|renal tubular acidosis 2|RTA, proximal type|renal tubular acidosis, proximal|pRTA|Type 2 RTA|RTA, rate type SCTID:24790002|OMIM:179830|ICD10:N25.8|ICD9:588.89|OMIM:604278|MedDRA:10037080|Orphanet:47159 owl:Class MONDO:0018071 biolink:NamedThing trisomy 18 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. tmpte7i6ely_mondo_relaxed.owl chromosome 18 trisomy|Edwards syndrome|trisomy 18|18 trisomy|complete trisomy 18 syndrome|E3 trisomy|chromosome 18 duplication|trisomy type 18|trisomy 16-18 (formerly)|trisomy E (formerly) ICD10:Q91.0|Orphanet:3380|ICD9:758.2|DOID:1085|ICD10:Q91.2|ICD10:Q91.1|NCIT:C36626|GARD:0006321|ICD10:Q91.3|SCTID:51500006|MedDRA:10053884|UMLS:C0152096|MESH:C580500 owl:Class UBERON:0001204 biolink:NamedThing mucosa of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001242 biolink:NamedThing intestinal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008755 biolink:NamedThing Moynahan syndrome tmpte7i6ely_mondo_relaxed.owl Moynahan alopecia syndrome|alopecia-epilepsy-oligophrenia syndrome of Moynahan|alopecia epilepsy oligophrenia syndrome of Moynahan|alopecia-epilepsy-intellectual disability syndrome, Moynahan type ICD10:G40.4|OMIM:203600|Orphanet:2574|MESH:C537052|GARD:0000606 owl:Class HGNC:360 biolink:NamedThing AIRE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012994 biolink:NamedThing dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. tmpte7i6ely_mondo_relaxed.owl autosomal recessive sepiapterin reductase-deficient DRD|dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|sepiapterin reductase deficiency|DYT-SPR|SRD|SPR deficiency|DRD due to SRD|dopa-responsive dystonia due to sepiapterin reductase deficiency DOID:0111168|OMIM:612716|GARD:0010365|ICD10:G24.1|SCTID:45116002|ICD9:277.89|UMLS:C0268468|Orphanet:70594|MESH:C562657 owl:Class MONDO:0017756 biolink:NamedThing disorder of pterin metabolism tmpte7i6ely_mondo_relaxed.owl UMLS:CN227201|Orphanet:309819 owl:Class MONDO:0019256 biolink:NamedThing sterol metabolism disorder An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. tmpte7i6ely_mondo_relaxed.owl rare inborn error of sterol metabolic process|inborn sterol metabolic process disorder|inborn error of sterol metabolic process UMLS:CN227607|Orphanet:79226 owl:Class HGNC:17210 biolink:NamedThing DHX37 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003038 biolink:NamedThing dysgraphia Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994) tmpte7i6ely_mondo_relaxed.owl dysgraphia (disease)|dysgraphia dysgraphia (disease) DOID:4540|ICD10:R48.8|HP:0010526 owl:Class MONDO:0000599 biolink:NamedThing writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. tmpte7i6ely_mondo_relaxed.owl DOID:0060047 owl:Class MONDO:0006156 biolink:NamedThing colon sessile serrated adenoma/polyp A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability. tmpte7i6ely_mondo_relaxed.owl colon sessile serrated adenoma|colon SSA/P|colon sessile serrated polyp|colon sessile serrated adenoma/polyp|colon SSA|colon SSP UMLS:C3272791|EFO:1000189|NCIT:C96464 owl:Class MONDO:0021400 biolink:NamedThing polyp of colon A polyp that involves the colon. tmpte7i6ely_mondo_relaxed.owl colonic polyp|colon polyp|polyp of the colon MESH:D003111|ICD10:K63.5|SCTID:68496003|NCIT:C2954 owl:Class UBERON:0010394 biolink:NamedThing lymphocyte domain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010001 biolink:NamedThing cell cluster organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020218 biolink:NamedThing goniodysgenesis tmpte7i6ely_mondo_relaxed.owl 2022-05-01 SCTID:251730004|Orphanet:98633 Reason: out of scope. Obsoleted in Orphanet. Term to consider: None owl:Class MONDO:0020216 biolink:NamedThing secondary dysgenetic glaucoma A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. tmpte7i6ely_mondo_relaxed.owl secondary congenital glaucoma Orphanet:98631 owl:Class MONDO:0020584 biolink:NamedThing anemia due to enzyme disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme. tmpte7i6ely_mondo_relaxed.owl anemia due to enzyme disorder UMLS:C0494226|NCIT:C35472 owl:Class GO:0016406 biolink:NamedThing carnitine O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035296 biolink:NamedThing regulation of tube diameter Any process that modulates the diameter of a tube. tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000831 biolink:NamedThing gene_member_region A region of a gene. tmpte7i6ely_mondo_relaxed.owl gene member region owl:Class SO:0001411 biolink:NamedThing biological_region A region defined by its disposition to be involved in a biological process. tmpte7i6ely_mondo_relaxed.owl INSDC_note:biological_region|biological region|INSDC_misc_feature owl:Class MONDO:0014362 biolink:NamedThing chromosome 16 inversion, 0.45-Mb tmpte7i6ely_mondo_relaxed.owl chromosome 16 inversion, 0.45-Mb OMIM:615835 owl:Class MONDO:0043678 biolink:NamedThing chromosome inversion A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. tmpte7i6ely_mondo_relaxed.owl Inversions, chromosomal|Inversions, chromosome|chromosomal Inversions|inversion, chromosome|inverted chromosome|inversion|chromosome Inversions|chromosomal inversion|inv|inversion, chromosomal NCIT:C6827|MESH:D007446 owl:Class MONDO:0013091 biolink:NamedThing glycogen storage disease IXc A liver PhK deficiency caused by variants in the PHKG2 gene tmpte7i6ely_mondo_relaxed.owl PHKG2 glycogen storage disease|PHKG2-related glycogen storage disease type IX|GSD type IXc|glycogen storage disease IXc|GSD IXc|GSD type 9C|glycogen storage disease caused by mutation in PHKG2|glycogen storage disease type IXc|GSD9C UMLS:C2751643|OMIM:613027|DOID:0111043|MESH:C567809 owl:Class MONDO:0008504 biolink:NamedThing supravalvular aortic stenosis SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. tmpte7i6ely_mondo_relaxed.owl supravalvular aortic stenosis|supra-valvular aortic stenosis|SVAS|supravalvular aortic stenosis (disease)|supravalvar aortic stenosis, Eisenberg type|aortic supravalvular stenosis supravalvular aortic stenosis (disease) NCIT:C85176|UMLS:C0003499|OMIM:185500|Orphanet:3193|GARD:0000743|MedDRA:10042598|DOID:1929|SCTID:268185002|ICD10:Q25.3|HP:0004381 owl:Class MONDO:0004978 biolink:NamedThing aortic stenosis In the same amount or manner; to the same degree; in the role, function, or capacity of. tmpte7i6ely_mondo_relaxed.owl AS|rheumatic aortic valve stenosis|aortic valve stenosis|rheumatic aortic stenosis|aortic stenosis ICD9:746.3|OMIM:614823|ICD9:395.0|EFO:0000266|DOID:1712|NCIT:C50462|OMIM:109730|NCIT:C64938|ICD10:I06.0|ICD10:Q23.0|Orphanet:402075|UMLS:C0155567 owl:Class HGNC:28636 biolink:NamedThing B9D2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061337 biolink:NamedThing cardiac conduction Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035637 biolink:NamedThing multicellular organismal signaling The transfer of information occurring at the level of a multicellular organism. tmpte7i6ely_mondo_relaxed.owl multicellular organismal signalling owl:Class MONDO:0002775 biolink:NamedThing anovulation The absence of ovulation. tmpte7i6ely_mondo_relaxed.owl NCIT:C34388|DOID:3781|UMLS:C0003128|MESH:D000858 owl:Class MONDO:0005287 biolink:NamedThing developmental disability Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) tmpte7i6ely_mondo_relaxed.owl MESH:D002658|EFO:0003852 owl:Class MONDO:0043224 biolink:NamedThing multi-infarct dementia A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. tmpte7i6ely_mondo_relaxed.owl Dementias, lacunar|Binswanger disease|multi-infarcts, dementia|dementia multi-infarct|Binswanger's disease|dementia multi-infarcts|multi-infarct, dementia|dementia, Multiinfarct|multi-infarct dementia|Dementias, multi-infarct|dementia, multi infarct|Dementias, Multiinfarct|dementia multi infarct|Multiinfarct dementia|lacunar dementia|multi-infarct Dementias|arteriosclerotic dementia|lacunar Dementias|dementia, lacunar|Multiinfarct Dementias|multi infarct dementia MESH:D015161|SCTID:56267009|NCIT:C34522|GARD:0005925 owl:Class MONDO:0002679 biolink:NamedThing cerebral infarction An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries. tmpte7i6ely_mondo_relaxed.owl infarction, cerebral|cerebral ischemia|cerebral infarct|cerebral, infarction|brain infarction of telencephalon|CVA - cerebral infarction|telencephalon brain infarction ICD9:433.81|SCTID:20059004|ICD9:433.21|ICD10:I63.9|ICD9:433.31|NCIT:C50486|DOID:3526|ICD9:433.01|ICD9:434.91|SCTID:432504007|MESH:D002544|UMLS:C0007785|ICD10:I63 owl:Class UBERON:0003497 biolink:NamedThing abdomen blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012759 biolink:NamedThing camptodactyly syndrome, Guadalajara type 3 Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. tmpte7i6ely_mondo_relaxed.owl camptodactyly syndrome Guadalajara type 3|camptodactyly syndrome, Guadalajara, type III|camptodactyly syndrome, Guadalajara, type 3 GARD:0010573|MESH:C567455|UMLS:C2677809|OMIM:611929|Orphanet:488434 https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3 owl:Class HP:0002104 biolink:NamedThing Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. tmpte7i6ely_mondo_relaxed.owl Apnoea|Absence of spontaneous respiration|Apneic episodes SNOMEDCT_US:1023001|UMLS:C0003578|MSH:D001049|SNOMEDCT_US:248583008 HP:0005936|HP:0005958 human_phenotype owl:Class HP:0002793 biolink:NamedThing Abnormal pattern of respiration An anomaly of the rhythm or depth of breathing. tmpte7i6ely_mondo_relaxed.owl Abnormal pattern of respiration|Abnormal respiratory patterns|Unusual breathing patterns UMLS:C1837388 human_phenotype owl:Class MONDO:0016616 biolink:NamedThing oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies tmpte7i6ely_mondo_relaxed.owl oligoarticular JIA without anti-nuclear antibodies|pauciarticular chronic arthritis without anti-nuclear antibodies ICD10:M08.4|UMLS:CN201824|Orphanet:247846 owl:Class MONDO:0019433 biolink:NamedThing oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. tmpte7i6ely_mondo_relaxed.owl Pauciarticular chronic arthritis|Pauciarticular JIA|Oligoarticular JIA|Pauciarticular juvenile idiopathic arthritis MESH:C536312|EFO:1002019|Orphanet:85410|GARD:0004261|UMLS:C2931171|NCIT:C119032|ICD10:M08.4|UMLS:C3898105 owl:Class MONDO:0022673 biolink:NamedThing autosomal dominant non-nuclear cataract tmpte7i6ely_mondo_relaxed.owl PCC|cataract, Nonnuclear polymorphic congenital, autosomal dominant|CCP|cataract congenital dominant non nuclear|autosomal dominant nonnuclear polymorphic congenital cataract|cataract, polymorphic congenital GARD:0001144|MESH:C538284 https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear owl:Class MONDO:0022672 biolink:NamedThing autosomal dominant cataract A syndromic cataract that has autosomal dominant inheritance. tmpte7i6ely_mondo_relaxed.owl cataract congenital autosomal dominant GARD:0001143 https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant owl:Class HGNC:4137 biolink:NamedThing GAN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019860 biolink:NamedThing thyroid hemiagenesis Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl SCTID:715734006|OMIM:218700|Orphanet:95719|ICD10:E03.1|UMLS:C4023190 owl:Class MONDO:0017800 biolink:NamedThing pseudo-Meigs syndrome tmpte7i6ely_mondo_relaxed.owl pseudo-Demons-Meigs syndrome UMLS:CN203759|Orphanet:314459|ICD10:D27 owl:Class CHEBI:47788 biolink:NamedThing 3-oxo steroid Any oxo steroid where an oxo substituent is located at position 3. tmpte7i6ely_mondo_relaxed.owl 3-oxo steroids|3-oxosteroids|3-Oxosteroid|a 3-oxosteroid owl:Class CHEBI:3992 biolink:NamedThing cyclic ketone tmpte7i6ely_mondo_relaxed.owl cyclic ketones|Cyclic ketone owl:Class MONDO:0005184 biolink:NamedThing pancreatic ductal adenocarcinoma An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl pancreatic duct adenocarcinoma|pancreatic ductal carcinoma|pancreatic tubular adenocarcinoma|pancreatic ductal adenocarcinoma|malignant neoplasm of duct of Wirsung|pancreas ductal adenocarcinoma|pancreatic duct cancer|ductal adenocarcinoma of pancreas|ductal adenocarcinoma of the pancreas UMLS:C0887833|DOID:3587|UMLS:C1335302|EFO:0002517|ICD10:C25.3|NCIT:C9120|ICD9:157.3|MESH:D021441|DOID:3498 owl:Class MONDO:0018773 biolink:NamedThing autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:476093|UMLS:CN776822 owl:Class MONDO:0015362 biolink:NamedThing autosomal dominant distal hereditary motor neuropathy Autosomal dominant form of distal hereditary motor neuropathy. tmpte7i6ely_mondo_relaxed.owl autosomal dominant distal hereditary motor neuropathy|autosomal dominant distal spinal muscular atrophy|distal hereditary motor neuropathy, autosomal dominant|autosomal dominant dHMN Orphanet:140465|DOID:0111198|UMLS:CN228930|ICD10:G12.1 owl:Class MONDO:0030465 biolink:NamedThing cataract 49 tmpte7i6ely_mondo_relaxed.owl CTRCT49 OMIM:619593 owl:Class GO:0002892 biolink:NamedThing regulation of type II hypersensitivity Any process that modulates the frequency, rate, or extent of type II hypersensitivity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015535 biolink:NamedThing xanthoma disseminatum tmpte7i6ely_mondo_relaxed.owl Montgomery syndrome ICD10:D76.3|UMLS:C0043322|GARD:0013186|MedDRA:10052575|SCTID:399970005|Orphanet:158003 https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum owl:Class NCBITaxon:644710 biolink:NamedThing Anisakis simplex complex tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6268 biolink:NamedThing Anisakis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:15917 biolink:NamedThing PLCB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008171 biolink:NamedThing nephrolithiasis The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. tmpte7i6ely_mondo_relaxed.owl kidney stone|renal calculi|CAON|calculus of kidney and ureter|Stone - kidney/ureter|kidney stones|nephrolithiasis, calcium oxalate|urolithiasis, calcium oxalate OMIM:605990|ICD9:592|ICD10:N20.2|NCIT:C114667|UMLS:C0392525|MESH:D053040|EFO:0004253|EFO:0003845|SCTID:266556005|UMLS:C0156257|DOID:585|ICD10:N20 owl:Class NCBITaxon:520 biolink:NamedThing Bordetella pertussis tmpte7i6ely_mondo_relaxed.owl Hemophilus pertussis|Haemophilus pertussis|Bacterium tussis-convulsivae|Microbe de la coqueluche PMID:8240949|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:517 biolink:NamedThing Bordetella tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11491321 ncbi_taxonomy owl:Class UBERON:0000945 biolink:NamedThing stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010039 biolink:NamedThing food storage organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008905 biolink:NamedThing predisposition to invasive fungal disease due to CARD9 deficiency tmpte7i6ely_mondo_relaxed.owl candidiasis familial chronic mucocutaneous, autosomal recessive|CARD9 deficiency|candidiasis, familial, type 2|CANDF2|candidiasis, familial, 2|CARD9 immunodeficiency|invasive candidiasis-deep dermatophytosis syndrome|candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050|ICD10:D84.8|Orphanet:457088|UMLS:C1859353|GARD:0001077 owl:Class MONDO:0007482 biolink:NamedThing dyschondrosteosis-nephritis syndrome Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. tmpte7i6ely_mondo_relaxed.owl dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis|dyschondrosteosis nephritis MESH:C565080|GARD:0001994|UMLS:C1851986|ICD10:Q87.8|Orphanet:1765|OMIM:127350 https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis owl:Class MONDO:0006164 biolink:NamedThing colorectal sessile serrated adenoma/polyp A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability. tmpte7i6ely_mondo_relaxed.owl colorectal mixed hyperplastic adenomatous polyp|colorectal sessile serrated adenoma|colorectal sessile serrated adenoma/polyp|colorectal SSA/P|colorectal SSP|colorectal SSA|colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal sessile serrated polyp UMLS:C2826783|NCIT:C83176|EFO:1000197 owl:Class MONDO:0008130 biolink:NamedThing ophthalmoplegia-intellectual disability-lingua scrotalis syndrome tmpte7i6ely_mondo_relaxed.owl Levic-Stefanovic-Nikolic syndrome|ophthalmoplegia-intellectual disability-lingua scrotalis syndrome|ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic Stefanovic Nikolic syndrome OMIM:165150|GARD:0003236|MESH:C563498|UMLS:C1833835|Orphanet:2743 https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome owl:Class CHEBI:33552 biolink:NamedThing sulfonic acid derivative tmpte7i6ely_mondo_relaxed.owl sulfonic acid derivative|sulfonic acid derivatives|derivatives of sulfonic acid owl:Class MONDO:0012487 biolink:NamedThing alopecia-intellectual disability syndrome 2 tmpte7i6ely_mondo_relaxed.owl AMR syndrome 2|APMR2|alopecia-mental retardation syndrome 2|alopecia-intellectual disability syndrome 2|alopecia with mild to moderate intellectual deficit|alopecia intellectual disability syndrome 2 Orphanet:2850|OMIM:610422|MESH:C563668|UMLS:C1835852|DOID:0080629|GARD:0004291 owl:Class UBERON:0003469 biolink:NamedThing respiratory system artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003643 biolink:NamedThing respiratory system arterial blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018706 biolink:NamedThing syndromic sensorineural deafness due to combined oxidative phosphorylation defect tmpte7i6ely_mondo_relaxed.owl syndromic sensorineural hearing loss due to COXPD|syndromic sensorineural deafness due to COXPD UMLS:CN242144|Orphanet:457223|ICD10:G31.8 owl:Class MONDO:0009034 biolink:NamedThing craniofacial dyssynostosis Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. tmpte7i6ely_mondo_relaxed.owl craniofacial dyssynostosis with short stature|bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis and short stature|craniosynostosis-craniofacial dysostosis syndrome UMLS:C1857511|OMIM:218350|Orphanet:1516|GARD:0001575|ICD10:Q87.0|MESH:C536455 https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis owl:Class MONDO:0000429 biolink:NamedThing autosomal genetic disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. tmpte7i6ely_mondo_relaxed.owl autosomal inherited disease|autosomal hereditary disorder|autosomal inherited disorder SCTID:1899006|DOID:0050739|UMLS:C0265384|ICD9:758.5 owl:Class MONDO:0023573 biolink:NamedThing Kozlowski Warren Fisher syndrome tmpte7i6ely_mondo_relaxed.owl cloverleaf skull generalised bone dysplasia MESH:C537614|UMLS:C2931546|GARD:0000353 https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome owl:Class MONDO:0017042 biolink:NamedThing thanatophoric dysplasia Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. tmpte7i6ely_mondo_relaxed.owl Td|dwarfism thanatophoric|thanatophoric dwarfism OMIM:187601|OMIM:187600|ICD9:259.4|UMLS:C0039743|MESH:D013796|OMIM:156830|GARD:0000085|SCTID:29352008|Orphanet:2655|Orphanet:93274|ICD10:Q77.1|MedDRA:10049808|Orphanet:1860|Orphanet:93275|DOID:13481|NCIT:C85187|OMIM:273680 owl:Class UBERON:0001146 biolink:NamedThing suprarenal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006678 biolink:NamedThing bladder calculus A concretion in the urinary bladder. tmpte7i6ely_mondo_relaxed.owl DOID:11355|MESH:D001744|ICD10:N21.0|NCIT:C26707|UMLS:C0005683|EFO:1000839|SCTID:70650003|ICD9:594.1|MedDRA:10005001 owl:Class MONDO:0004828 biolink:NamedThing lower urinary tract calculus A urolithiasis that involves the lower urinary tract. tmpte7i6ely_mondo_relaxed.owl lower urinary tract urolithiasis|urolithiasis of lower urinary tract ICD10:N21|ICD9:594.9|DOID:9590|UMLS:C0156264|SCTID:79509009|ICD9:594|ICD10:N21.9|ICD9:594.8 owl:Class MONDO:0009218 biolink:NamedThing Farber lipogranulomatosis A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. tmpte7i6ely_mondo_relaxed.owl acid ceramidase deficiency|N-Laurylsphingosine deacylase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|Farber disease|Farber lipogranulomatosis|AC deficiency|Farber's disease|ceramidase deficiency|FRBRL MESH:D055577|NCIT:C84710|SCTID:79935000|GARD:0006426|Orphanet:333|OMIM:228000|ICD10:E75.2|ICD9:272.8|UMLS:C0268255|UMLS:CN204335|DOID:0050464 owl:Class OBO:CHR_9606-chr7p22 biolink:NamedThing 7p22 (Human) tmpte7i6ely_mondo_relaxed.owl 7200000 0 hg38 owl:Class MONDO:0000918 biolink:NamedThing endometritis An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. tmpte7i6ely_mondo_relaxed.owl uterine infection|endometrium inflammation|inflammation of endometrium DOID:1002|NCIT:C26764|MESH:D004716|EFO:1001312|UMLS:C0014179|SCTID:78623009 owl:Class MONDO:0007271 biolink:NamedThing familial cutaneous collagenoma Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. tmpte7i6ely_mondo_relaxed.owl collagenoma, familial cutaneous OMIM:115250|GARD:0009799|Orphanet:53296|SCTID:239139000|UMLS:C0406817|ICD10:L94.8|MESH:C562925 https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma owl:Class UBERON:0002921 biolink:NamedThing longitudinal fissure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014466 biolink:NamedThing subarachnoid fissure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009228 biolink:NamedThing gingival fibromatosis-facial dysmorphism syndrome Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. tmpte7i6ely_mondo_relaxed.owl gingival fibromatosis with distinctive facies|gingival fibromatosis with craniofacial dysmorphism|fibromatosis, gingival, with distinctive facies OMIM:228560|MESH:C565567|Orphanet:2025|ICD10:Q87.0|UMLS:C1856761|GARD:0010528 https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies owl:Class PATO:0001995 biolink:NamedThing organismal quality A quality that inheres in an entire organism or part of an organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003363 biolink:NamedThing malignant dermis tumor A malignant neoplasm involving the dermis. tmpte7i6ely_mondo_relaxed.owl cancer of dermis|malignant tumor of dermis|dermis cancer|malignant tumor of the dermis|malignant dermis neoplasm|malignant neoplasm of dermis|malignant neoplasm of the dermis|malignant dermal neoplasm|malignant dermis tumor DOID:5274|SCTID:255096006|NCIT:C4574|UMLS:C0346811 owl:Class MONDO:0010665 biolink:NamedThing Wilson-Turner syndrome Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic 6|X-linked intellectual disability - gynecomastia - obesity|mental retardation, X-linked, syndromic 6|mental retardation, X-linked, syndromic 6 (formerly)|intellectual disability, X-linked, with gynecomastia and obesity|intellectual disability, X-linked, syndromic 6 (formerly)|mental retardation, X-linked, with gynecomastia and obesity (formerly)|Wilson Turner intellectual disability syndrome (formerly)|mental retardation, X-linked, with gynecomastia and obesity|Wilson-TURNER X-linked intellectual disability syndrome|Wilson-TURNER X-linked mental retardation syndrome|intellectual disability, X-linked, with gynecomastia and obesity (formerly)|WTS|MRXS6|X-linked intellectual disability-gynecomastia-obesity syndrome|Wilson Turner mental retardation syndrome (formerly) GARD:0005579|Orphanet:3459|DOID:0060814|OMIM:309585|SCTID:719834005|MESH:C536708 https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome owl:Class MONDO:0008165 biolink:NamedThing southeast Asian ovalocytosis Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. tmpte7i6ely_mondo_relaxed.owl stomatocytic elliptocytosis|Melanesian elliptocytosis|ovalocytosis, Malaysian-Melanesian-Filipino type|he, stomatocytic|ovalocytosis, hereditary hemolytic|elliptocytosis 4|elliptocytosis, stomatocytic hereditary|Melanesian ovalocytosis|hereditary ovalocytosis|sao|ovalocytosis, southeast Asian UMLS:C1833690|SCTID:191169008|OMIM:166900|UMLS:C1862323|Orphanet:98868|Orphanet:288|ICD9:282.1|ICD10:D58.1 owl:Class MONDO:0100189 biolink:NamedThing apolipoprotein A-I deficiency A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). tmpte7i6ely_mondo_relaxed.owl familial hypoalphalipoproteinemia|familial apoA-I deficiency|ApoA-I deficiency Orphanet:425 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017773 biolink:NamedThing hypoalphalipoproteinemia A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. tmpte7i6ely_mondo_relaxed.owl SCTID:190785000|UMLS:C0473527|MESH:D052456|ICD10:E78.6|Orphanet:31153|NCIT:C84774|MedDRA:10065156 owl:Class MONDO:0015688 biolink:NamedThing myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 tmpte7i6ely_mondo_relaxed.owl myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1|myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement|myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2|myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 UMLS:C2827356|DOID:0080164|Orphanet:168943|NCIT:C84270 owl:Class UBERON:0003358 biolink:NamedThing epithelium of soft palate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008963 biolink:NamedThing Chediak-Higashi syndrome ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. tmpte7i6ely_mondo_relaxed.owl ChC)diak-Higashi-Steinbrink syndrome|Chediak - Steinbrinck anomaly|Chediak-Higashi syndrome|Chédiak-Higashi syndrome|Chediak Higashi syndrome|ChC)diak-Higashi disease|Chédiak-Higashi disease|CHS|Chédiak-Higashi-Steinbrink syndrome ICD10:D72.0|OMIM:214500|ICD10:E70.3|MedDRA:10008415|UMLS:C0007965|MESH:D002609|SCTID:111396008|NCIT:C2941|GARD:0006035|Orphanet:167|DOID:2935|ICD10:E70.330 https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome owl:Class CL:0000765 biolink:NamedThing erythroblast A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. tmpte7i6ely_mondo_relaxed.owl normoblast CALOHA:TS-0289|BTO:0001571|FMA:83504 cell owl:Class GO:0010827 biolink:NamedThing regulation of glucose transmembrane transport Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl regulation of glucose transport owl:Class HGNC:32940 biolink:NamedThing NKX2-6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011619 biolink:NamedThing crumpled helices and small mouth tmpte7i6ely_mondo_relaxed.owl crumpled helices and small mouth|sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay MESH:C536217|OMIM:605945|UMLS:C1853826|GARD:0010078 https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth owl:Class CHEBI:33306 biolink:NamedThing carbon group element atom tmpte7i6ely_mondo_relaxed.owl carbon group element|cristallogenes|carbon group elements|carbonoides|cristallogene|group IV elements|group 14 elements owl:Class CHEBI:33560 biolink:NamedThing p-block element atom Any main group element atom belonging to the p-block of the periodic table. tmpte7i6ely_mondo_relaxed.owl p-block element|p-block elements owl:Class MONDO:0015634 biolink:NamedThing isolated osteopoikilosis A osteopoikilosis (disease) that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic osteopoikilosis (disease)|isolated osteopoikilosis (disease) Orphanet:166119|ICD10:Q78.8|OMIM:166700 owl:Class MONDO:0001414 biolink:NamedThing osteopoikilosis A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones. tmpte7i6ely_mondo_relaxed.owl spotted bones|osteopathia condensans disseminata|osteopoikilosis (disease)|osteopoikilosis osteopoikilosis (disease) ICD9:756.53|NCIT:C84985|DOID:11991|GARD:0004158|SCTID:9147009|ICD10:Q78.8|MESH:D010023|HP:0010739 owl:Class HP:0001920 biolink:NamedThing Renal artery stenosis The presence of stenosis of the renal artery. tmpte7i6ely_mondo_relaxed.owl Narrowing of kidney artery SNOMEDCT_US:282664001|SNOMEDCT_US:302233006|Fyler:2634|MSH:D012078|UMLS:C0035067 human_phenotype owl:Class HP:0100545 biolink:NamedThing Arterial stenosis Narrowing or constriction of the inner surface (lumen) of an artery. tmpte7i6ely_mondo_relaxed.owl Narrowing of an artery UMLS:C0038449|SNOMEDCT_US:68109007 doelkens 2010-12-21T01:30:07Z human_phenotype owl:Class HGNC:758 biolink:NamedThing ASS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019157 biolink:NamedThing acquired idiopathic sideroblastic anemia Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. tmpte7i6ely_mondo_relaxed.owl refractory Anemia with Ring sideroblasts|Pure sideroblastic Anemia|primary acquired sideroblastic anemia|refractory anemia with ringed sideroblasts|MDS-RS|AISA|myelodysplastic syndrome with Ring sideroblasts|refractory Anemia with ringed sideroblasts|RARS ICD9:238.72|Orphanet:75564|NCIT:C4036|ICD10:D64.3|EFO:0003812|ICDO:9982/3|SCTID:109998009 MONDO:0005274 owl:Class MONDO:0018881 biolink:NamedThing myelodysplastic syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl myelodysplastic syndrome, susceptibility to|myelodysplastic syndrome/neoplasm|myelodysplasia|myelodysplastic syndromes|myelodysplastic syndrome|MDS|hematopoeitic - myelodysplastic syndrome (MDS)|smoldering leukemia|preleukemia|myelodysplastic neoplasm|oligoblastic leukemia|dysmyelopoietic syndrome UMLS:C3463824|ICD9:238.7|DOID:0050908|ICDO:9989/3|Orphanet:52688|MedDRA:10028532|SCTID:109995007|UMLS:C0033027|GARD:0007132|ONCOTREE:MDS|EFO:0000198|OMIM:614286|ICD9:238.75|NCIT:C3247 owl:Class MONDO:0010526 biolink:NamedThing Fabry disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. tmpte7i6ely_mondo_relaxed.owl Fd|alpha galactosidase deficiency|Gla deficiency|diffuse angiokeratoma|Fabry's disease|Fabry disease|hereditary dystopic lipidosis|angiokeratoma, diffuse|Anderson-Fabry disease|Fabry disease, Cardiac variant|ceramide trihexosidase deficiency|Alpha-galactosidase A deficiency|deficiency of melibiase|angiokeratoma corporis diffusum ICD10:E75.2|MedDRA:10016016|OMIM:301500|DOID:14499|SCTID:16652001|UMLS:C0002986|Orphanet:324|NCIT:C27528|GARD:0006400|NCIT:C84701|ICD10:E75.21|MESH:D000795 owl:Class MONDO:0007441 biolink:NamedThing dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. tmpte7i6ely_mondo_relaxed.owl dentinogenesis imperfecta 1|DI-2|opalescent dentin|dentinogenesis imperfecta type 1|dentinogenesis imperfecta, Shields type 2|dentinogenesis imperfecta without osteogenesis imperfecta|DGI1|DGI-2|DGI-II|opalescent teeth without osteogenesis imperfecta|Capdepont teeth GARD:0012796|ICD10:K00.5|OMIM:605594|Orphanet:166260|OMIM:125490 owl:Class MONDO:0012642 biolink:NamedThing major affective disorder 4 tmpte7i6ely_mondo_relaxed.owl major affective disorder 4|bipolar affective disorder|MAJOR affective disorder 4|MAFD4 MESH:C567073|OMIM:611247 owl:Class MONDO:0004985 biolink:NamedThing bipolar disorder A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. tmpte7i6ely_mondo_relaxed.owl major affective disorder|bipolar disorder|major bipolar affective disorder|depressive-manic psych.|manic-depressive psychosis|manic depression|manic-depression|mixed bipolar disorder|bipolar affective disorder|MAFD|manic disorder|bipolar disorder manic phase|manic bipolar affective disorder|manic depressive disorder|bipolar depression|manic-depressive illness|manic bipolar I disorder OMIM:612371|NIFSTD:birnlex_12754|ICD9:296.60|ICD10:F31.9|ICD9:296.80|MESH:D001714|NCIT:C34805|NCIT:C34424|EFO:0000289|ICD9:296.89|ICD9:296.40|UMLS:C0005586|ICD10:F31|SCTID:191627008|NCIT:C34423|OMIM:612357|SCTID:13746004|DOID:3312 owl:Class UBERON:0004302 biolink:NamedThing proximal phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903047 biolink:NamedThing mitotic cell cycle process A process that is part of the mitotic cell cycle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009234 biolink:NamedThing congenital high-molecular-weight kininogen deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. tmpte7i6ely_mondo_relaxed.owl Fitzgerald trait|HMWK|HMWK deficiency|Hmwk deficiency|Williams trait, included|kininogen deficiency, high molecular weight|Fitzgerald trait kininogen deficiency, total, included|high-molecular-weight kininogen deficiency, congenital|high molecular weight kininogen deficiency|kininogen deficiency, total|kininogen deficiency, high molecular weight and Low molecular weight|Flaujeac trait, included|Flaujeac factor deficiency|Williams trait|Flaujeac trait|kininogen deficiency, high molecular weight and LOW molecular weight, included OMIM:228960|DOID:0111676|MESH:C537060|GARD:0002684|ICD9:286.9|Orphanet:483|ICD10:D68.8|NCIT:C98946|SCTID:27312002 https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency owl:Class HGNC:7392 biolink:NamedThing MSX2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:4753 biolink:NamedThing Pneumocystis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019353 biolink:NamedThing Stargardt disease Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. tmpte7i6ely_mondo_relaxed.owl Stargardt 1|Stargardt macular dystrophy|juvenile onset macular degeneration|Stargardt disease 1|fundus flavimaculatus Orphanet:827|SCTID:47673003|OMIM:603786|DOID:0050817|OMIM:248200|OMIM:600110|NCIT:C85078|ICD10:H35.5|UMLS:C1855465|MedDRA:10062766|UMLS:C0271093|GARD:0000181 https://rarediseases.info.nih.gov/diseases/181/stargardt-disease owl:Class NCBITaxon:2499399 biolink:NamedThing Cornidovirineae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:76804 biolink:NamedThing Nidovirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003716 biolink:NamedThing renal pelvis papillary urothelial carcinoma A papillary transitional cell carcinoma that arises from the renal pelvis. tmpte7i6ely_mondo_relaxed.owl papillary carcinoma of renal pelvis|papillary carcinoma of kidney pelvis|papillary carcinoma of the kidney pelvis|papillary carcinoma of the renal pelvis|renal pelvis papillary carcinoma|kidney pelvis papillary carcinoma|renal pelvis papillary urothelial carcinoma DOID:5973|UMLS:C1377909|NCIT:C6148 owl:Class MONDO:0003717 biolink:NamedThing renal pelvis papillary tumor A papillary tumor originating in the renal pelvis. tmpte7i6ely_mondo_relaxed.owl papillary neoplasm of renal pelvis|papillary tumor of renal pelvis|renal pelvis papillary tumor|papillary tumor of the renal pelvis|papillary neoplasm of the renal pelvis|renal pelvis papillary urothelial neoplasm UMLS:C0853688|NCIT:C8603|DOID:5975 owl:Class MONDO:0014601 biolink:NamedThing autosomal recessive spinocerebellar ataxia 20 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|spinocerebellar ataxia, autosomal recessive type 20|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|SCAR20|autosomal recessive cerebellar ataxia caused by mutation in SNX14|spinocerebellar ataxia, autosomal recessive 20|SNX14 autosomal recessive cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 20 OMIM:616354|Orphanet:397709|DOID:0080066|UMLS:C4225355|ICD10:Q87.8 owl:Class NCBITaxon:42113 biolink:NamedThing Clitellata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6340 biolink:NamedThing Annelida tmpte7i6ely_mondo_relaxed.owl annelid worms|segmented worms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033013 biolink:NamedThing erythrokeratodermia variabilis et progressiva 3 tmpte7i6ely_mondo_relaxed.owl erythrokeratodermia variabilis ET progressiva 3|EKVP3 DOID:0080249|OMIM:617525|UMLS:C4479619|Orphanet:317 owl:Class MONDO:0017851 biolink:NamedThing erythrokeratodermia variabilis A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents. tmpte7i6ely_mondo_relaxed.owl progressive symmetric erythrokeratodermia|progressive symmetric erythrokeratodermia, Gottron type|erythrokeratodermia progressiva symmetrica|erythrokeratodermia variabilis with erythema gyratum repens|erythrokeratodermia Figurata, congenital familial, in plaques|erythrokeratodermia variabilis, Mendes da Costa type|erythrokeratodermia, progressive symmetric|keratoderma palmoplantaris transgrediens|Greither's disease|erythrokeratodermia figurata, congenital familial, in plaques|keratosis extremitatum hereditaria progrediens|erythrokeratodermia Figurata variabilis|keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis|erythrokeratodermia variabilis with erythema Gyratum Repens|EKV|EKVP|Darier-Gottron disease|erythrokeratodermia variabilis ET progressiva|keratosis palmoplantaris transgrediens et progrediens MedDRA:10049048|Orphanet:316|Orphanet:317|ICD10:Q82.8|UMLS:C0265961|SCTID:70041004|MESH:C536154|OMIM:133200|OMIMPS:133200|MESH:D056266|GARD:0003096|NCIT:C84696|DOID:0050467|Orphanet:495 https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens owl:Class NCBITaxon:2732506 biolink:NamedThing Pisoniviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0000532 biolink:NamedThing Abnormal chorioretinal morphology An abnormality of the choroid and retina. tmpte7i6ely_mondo_relaxed.owl Chorioretinal abnormality UMLS:C4025844 The choroid is the vascular layer of the eye, located between the retina and the sclera. HP:0001145|HP:0007888 human_phenotype owl:Class HP:0000610 biolink:NamedThing Abnormal choroid morphology Any structural abnormality of the choroid. tmpte7i6ely_mondo_relaxed.owl Abnormality of the choroid|Choroid disease MSH:D015862|UMLS:C4025836|UMLS:C0008521 HP:0001122 human_phenotype owl:Class NCBITaxon:6682 biolink:NamedThing Eucarida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:36961 biolink:NamedThing chalcocarbonic acid tmpte7i6ely_mondo_relaxed.owl chalcocarbonic acid|chalcocarbonic acids owl:Class CHEBI:36962 biolink:NamedThing organochalcogen compound An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. tmpte7i6ely_mondo_relaxed.owl organochalcogen compounds|organochalcogen compound owl:Class MONDO:0032774 biolink:NamedThing cerebellar, ocular, craniofacial, and genital syndrome tmpte7i6ely_mondo_relaxed.owl CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME|COFG OMIM:618479 owl:Class MONDO:0034846 biolink:NamedThing primary desmosis coli A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation. tmpte7i6ely_mondo_relaxed.owl ICD10:K59.9|Orphanet:565641 owl:Class MONDO:0000288 biolink:NamedThing polycystic echinococcosis tmpte7i6ely_mondo_relaxed.owl human polycystic hydatid disease|neotropical echinococcosis DOID:0050218 owl:Class MONDO:0100220 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 2 tmpte7i6ely_mondo_relaxed.owl RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2|RILDBC2 OMIM:619013 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100214 biolink:NamedThing Rajab interstitial lung disease with brain calcifications tmpte7i6ely_mondo_relaxed.owl OMIMPS:613658 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0043768 biolink:NamedThing thrombocytopenic purpura Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. tmpte7i6ely_mondo_relaxed.owl thrombocytopenic purpuras|purpura, thrombopenic|purpuras, thrombocytopenic|thrombopenic purpuras|purpuras, thrombopenic|thrombopenic purpura|thrombocytopenic purpura MESH:D011696|UMLS:C0857305|SCTID:302873008|NCIT:C26870 owl:Class MONDO:0002610 biolink:NamedThing purpura A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. tmpte7i6ely_mondo_relaxed.owl purpura|purpuric disorder|purpura (disease) purpura (disease) SCTID:387778001|HP:0000979|ICD10:D69.2|MESH:D011693|UMLS:C0034150|DOID:3326|NCIT:C78787 owl:Class MONDO:0012202 biolink:NamedThing malaria, mild, susceptibility to tmpte7i6ely_mondo_relaxed.owl Mals|susceptibility to mild malaria|malaria, mild, susceptibility to OMIM:609148 owl:Class CL:0000842 biolink:NamedThing mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form. tmpte7i6ely_mondo_relaxed.owl mononuclear leukocyte|peripheral blood mononuclear cell CALOHA:TS-0768|FMA:86713|BTO:0000878 cell owl:Class GO:0001868 biolink:NamedThing regulation of complement activation, lectin pathway Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation. tmpte7i6ely_mondo_relaxed.owl regulation of complement cascade, lectin pathway owl:Class MONDO:0012354 biolink:NamedThing platelet-type bleeding disorder 8 P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. tmpte7i6ely_mondo_relaxed.owl BDPLT8|ADP platelet receptor P2Y12 defect|bleeding disorder due to P2Ry12 defect|platelet-type bleeding disorder 8|bleeding disorder, platelet-type, 8|P2Y12 defect|bleeding disorder due to P2Rx1 defect, somatic|bleeding disorder, platelet-type 8 DOID:0060692|SCTID:725291001|UMLS:C1853278|ICD10:D69.8|Orphanet:36355|GARD:0012478|MESH:C565220|OMIM:609821 owl:Class MONDO:0005386 biolink:NamedThing peripheral arterial disease A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. tmpte7i6ely_mondo_relaxed.owl peripheral artery disease|pad|peripheral arterial disorder DOID:0050830|EFO:0004265|ICD9:443.81|SCTID:399957001|MESH:D058729|NCIT:C84496 owl:Class GO:0034651 biolink:NamedThing cortisol biosynthetic process The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. tmpte7i6ely_mondo_relaxed.owl cortisol biosynthesis|cortisol synthesis|cortisol anabolism|cortisol formation owl:Class GO:0120255 biolink:NamedThing olefinic compound biosynthetic process The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). tmpte7i6ely_mondo_relaxed.owl alkene substituted compound anabolic process|alkene substituted compound biosynthetic process|alkene substituted compound synthesis|alkene substituted compound biosynthesis|alkene substituted compound anabolism owl:Class MONDO:0014030 biolink:NamedThing primary ciliary dyskinesia 20 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in CCDC114|CCDC114 primary ciliary dyskinesia|primary ciliary dyskinesia 20 with or without situs inversus|ciliary dyskinesia, primary, type 20|primary ciliary dyskinesia type 20|ciliary dyskinesia, primary, 20|CILD20|ciliary dyskinesia, primary, 20, with or without situs inversus OMIM:615067|DOID:0110625|ICD10:Q34.8|UMLS:C3540844|Orphanet:244 owl:Class MONDO:0100339 biolink:NamedThing Friedreich ataxia An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. tmpte7i6ely_mondo_relaxed.owl hereditary spinal sclerosis|hereditary spinal ataxia|Friedreich ataxia with retained reflexes|spinocerebellar ataxia, Friedreich|Friedreich ataxia|FRDA|FA|Friedreich's ataxia|Friedreich's tabes NCIT:C84718|OMIM:229300|ICD9:334.0|MESH:D005621|Orphanet:95|MedDRA:10017374|UMLS:C0016719|SCTID:10394003|OMIM:601992|DOID:12705|GARD:0006468|ICD10:G11.1 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia owl:Class HGNC:6481 biolink:NamedThing LAMA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015855 biolink:NamedThing isolated congenital breast hypoplasia/aplasia tmpte7i6ely_mondo_relaxed.owl breasts and/or nipples, aplasia or hypoplasia of|isolated congenital amastia OMIM:113700|ICD10:Q83.0|OMIMPS:113700|OMIM:616001|Orphanet:180188 owl:Class MONDO:0010743 biolink:NamedThing thrombocytopenia 1 tmpte7i6ely_mondo_relaxed.owl X-linked thrombocytopenia|thrombocytopenia 1|THC|XLT|X-linked thrombocytopenia with normal platelets|THC1|thrombocytopenia, X-linked|thrombocytopenia type 1|thrombocytopenia, X-linked, 1|thrombocytopenia, X-linked, intermittent ICD10:D69.4|UMLS:C1839163|Orphanet:268322|GARD:0005176|Orphanet:852|OMIM:313900 owl:Class MONDO:0017057 biolink:NamedThing hereditary thrombocytopenia with normal platelets tmpte7i6ely_mondo_relaxed.owl Orphanet:268322|OMIM:313900|ICD10:D69.4|OMIM:188000|OMIM:612004|UMLS:CN227073|OMIM:273900 owl:Class MONDO:0010814 biolink:NamedThing chondrodysplasia-pseudohermaphroditism syndrome Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia-disorder of sex development syndrome|Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-pseudohermaphroditism syndrome SCTID:720851007|MESH:C536123|ICD10:Q87.1|Orphanet:1422|UMLS:C1838654|DOID:0060644|OMIM:600092 owl:Class MONDO:0010539 biolink:NamedThing X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. tmpte7i6ely_mondo_relaxed.owl X-linked mandibulofacial dysostosis with limb anomalies|mandibulofacial dysostosis Toriello type|mandibulofacial dysostosis, X-linked|branchial arch syndrome X-linked|X-linked branchial arch syndrome|branchial arch syndrome, X-linked|MFD Toriello type|mandibulofacial dysostosis, Toriello type OMIM:301950|SCTID:719813003|ICD10:Q75.4|MESH:C537102|UMLS:C1844918|GARD:0001002|Orphanet:1131 owl:Class UBERON:0001628 biolink:NamedThing posterior communicating artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006347 biolink:NamedThing communicating artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15761 biolink:NamedThing OSBPL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007321 biolink:NamedThing autosomal dominant chondrodysplasia punctata Autosomal dominant form of chondrodysplasia punctata. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to vitamin K deficiency|chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata Sheffield type|chondrodysplasia punctata due to warfarin Teratogenicity ICD10:Q77.3|Orphanet:79344|MESH:C563248|OMIM:602497|DOID:0060293|OMIM:118651|GARD:0001298|OMIM:118650 MONDO:0022728 https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type owl:Class MONDO:0015775 biolink:NamedThing non-rhizomelic chondrodysplasia punctata Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. tmpte7i6ely_mondo_relaxed.owl ICD10:Q77.3|Orphanet:176 owl:Class MONDO:0016721 biolink:NamedThing pineal tumor of neuroepithelial tissue tmpte7i6ely_mondo_relaxed.owl Orphanet:251905|UMLS:CN201969 owl:Class MONDO:0021193 biolink:NamedThing neuroepithelial neoplasm A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors. tmpte7i6ely_mondo_relaxed.owl neoplasm of the neuroepithelium|tumor of the neuroepithelium|tumor of neuroepithelium|neuroepithelial neoplasms|primary neuroepithelial tumor|neoplasm of neuroepithelium|neuroepithelial tumors|neuroepithelial tissue tumor|neuroepithelial tumor|neoplasm of neuroepithelial tissue|tumor of neuroepithelial tissue|neuroepithelial neoplasm|neuroepithelial tissue neoplasm ONCOTREE:PRNET|NCIT:C3787|MESH:D018302 Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm owl:Class GO:0071345 biolink:NamedThing cellular response to cytokine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071310 biolink:NamedThing cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015174 biolink:NamedThing autoimmune enteropathy type 3 tmpte7i6ely_mondo_relaxed.owl Orphanet:103917|ICD10:K52.8|UMLS:CN226617 owl:Class ECTO:9001751 biolink:NamedThing exposure to antiprotozoal drug An exposure to antiprotozoal drug. tmpte7i6ely_mondo_relaxed.owl exposure to antiprotozoal drug owl:Class MONDO:0007004 biolink:NamedThing type III hypersensitivity disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. tmpte7i6ely_mondo_relaxed.owl type III hypersensitivity reaction|hypersensitivity reaction type III disease|immune complex disease|type III hypersensitivity|disorder of type III hypersensitivity|type 3 hypersensitivity reaction EFO:1001222|UMLS:C0020951|MedDRA:10045265|MESH:D007105|NCIT:C114346|DOID:1557 owl:Class MONDO:0000605 biolink:NamedThing hypersensitivity reaction disease An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. tmpte7i6ely_mondo_relaxed.owl hypersensitive|hypersensitivity|allergic reaction|sensitivity|hypersensitivity reaction|sensitive DOID:0060056|EFO:1002003|SCTID:473010000|NCIT:C3114 owl:Class MONDO:0011501 biolink:NamedThing wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. tmpte7i6ely_mondo_relaxed.owl cortical defects wormian bones and dentinogenesis imperfecta|cortical defects, WORMIAN bones, and dentinogenesis imperfecta|Suarez-Stickler syndrome UMLS:C1858032|ICD10:Q78.8|GARD:0010290|MESH:C565734|OMIM:604922|Orphanet:166277 https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta owl:Class NCBITaxon:1913637 biolink:NamedThing Mucoromycota tmpte7i6ely_mondo_relaxed.owl PMID:27738200|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:112252 biolink:NamedThing Fungi incertae sedis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:451834 ncbi_taxonomy owl:Class GO:0019200 biolink:NamedThing carbohydrate kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016301 biolink:NamedThing kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl phosphokinase activity owl:Class CL:0001201 biolink:NamedThing B cell, CD19-positive A B cell that is CD19-positive. tmpte7i6ely_mondo_relaxed.owl B-lymphocyte, CD19-positive|CD19-positive B cell|CD19+ B cell|B lymphocyte, CD19-positive|B-cell, CD19-positive https://orcid.org/0000-0001-9990-8331 cell owl:Class CL:0000236 biolink:NamedThing B cell A lymphocyte of B lineage that is capable of B cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl B-cell|B lymphocyte|B-lymphocyte VHOG:0001480|FMA:62869|BTO:0000776|CALOHA:TS-0068 cell owl:Class MONDO:0014933 biolink:NamedThing developmental and epileptic encephalopathy, 44 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene. tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in UBA5|DEE44|epileptic encephalopathy, early infantile, 44; EIEE44|UBA5 early infantile epileptic encephalopathy|EIEE44|epileptic encephalopathy, early infantile, type 44|epileptic encephalopathy, early infantile, 44 OMIM:617132|UMLS:C4310700|DOID:0080424 owl:Class HP:0030082 biolink:NamedThing Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. tmpte7i6ely_mondo_relaxed.owl Abnormal drinking behaviour|Abnormal drinking behavior UMLS:C4022657 Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. human_phenotype owl:Class HP:0040202 biolink:NamedThing Abnormal consumption behavior tmpte7i6ely_mondo_relaxed.owl Abnormal consumption behaviour UMLS:C4073150 human_phenotype owl:Class GO:0050995 biolink:NamedThing negative regulation of lipid catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpte7i6ely_mondo_relaxed.owl negative regulation of lipid breakdown|inhibition of lipid catabolic process|down-regulation of lipid catabolic process|down regulation of lipid catabolic process|negative regulation of lipid catabolism|downregulation of lipid catabolic process|negative regulation of lipid degradation owl:Class GO:0090276 biolink:NamedThing regulation of peptide hormone secretion Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013578 biolink:NamedThing DYRK1A-related intellectual disability syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant type 7|autosomal dominant non-syndromic intellectual disability 7|autosomal dominant mental retardation 7|intellectual disability, autosomal dominant 7|intellectual disability, autosomal dominant type 7|autosomal dominant intellectual disability 7|MRD7|mental retardation, autosomal dominant 7 DOID:0070037|UMLS:C3279839|OMIM:614104|Orphanet:464306 owl:Class MONDO:0032675 biolink:NamedThing myasthenic syndrome, congenital, 25, presynaptic tmpte7i6ely_mondo_relaxed.owl CMS25|MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC OMIM:618323 owl:Class MONDO:0013943 biolink:NamedThing peroxisome biogenesis disorder 8B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder type 8B|PBD8B|peroxisome biogenesis disorder 8B UMLS:C3553960|Orphanet:772|OMIM:614877|Orphanet:44 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100269 biolink:NamedThing peroxisome biogenesis disorder due to PEX16 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene. tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX16 defect|PEX16 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0006140 biolink:NamedThing regulation of nucleotide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpte7i6ely_mondo_relaxed.owl regulation of nucleotide metabolism owl:Class GO:0032812 biolink:NamedThing positive regulation of epinephrine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of epinephrine. tmpte7i6ely_mondo_relaxed.owl stimulation of epinephrine secretion|up-regulation of epinephrine secretion|up regulation of epinephrine secretion|upregulation of epinephrine secretion|positive regulation of adrenaline secretion|activation of epinephrine secretion owl:Class NCBITaxon:69034 biolink:NamedThing Rotaliidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:203397 biolink:NamedThing Rotaliacea tmpte7i6ely_mondo_relaxed.owl Rotalioidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005729 biolink:NamedThing dicrocoeliasis Infection with flukes of the genus Dicrocoelium. tmpte7i6ely_mondo_relaxed.owl Dicrocoelium infectious disease|disease due to Dicrocoeliidae|Dicrocoelium caused disease or disorder|Dicrocoelium disease or disorder MESH:D004011|DOID:1219|UMLS:C1737210|ICD9:121.8|EFO:0007234|UMLS:C0012102|ICD10:B66.2|SCTID:105668007 owl:Class HGNC:18483 biolink:NamedThing LIPH tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:90 biolink:NamedThing ACADS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002716 biolink:NamedThing childhood spinal cord tumor A benign or malignant neoplasm affecting the spinal cord during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric spinal cord neoplasm|spinal cord neoplasm of childhood|childhood spinal cord neoplasm DOID:3637|UMLS:C1134515|NCIT:C9234 owl:Class MONDO:0021234 biolink:NamedThing spinal cord neoplasm A neoplasm (disease) that involves the spinal cord. tmpte7i6ely_mondo_relaxed.owl tumor of spinal cord|tumor of the spinal cord|neoplasm of spinal cord|spinal cord tumor|neoplasm of the spinal cord|spinal cord neoplasm (disease) UMLS:C0037930|NCIT:C3381 owl:Class MONDO:0006699 biolink:NamedThing choledocholithiasis Presence or formation of gallstones in the common bile duct. tmpte7i6ely_mondo_relaxed.owl MedDRA:10049891|MESH:D042883|UMLS:C0701818|EFO:1000865|DOID:11755 owl:Class UBERON:0001712 biolink:NamedThing upper eyelid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001711 biolink:NamedThing eyelid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003257 biolink:NamedThing yolk sac endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002171 biolink:NamedThing giant cell tumor A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. tmpte7i6ely_mondo_relaxed.owl giant cell tumor (morphologic abnormality)|giant cell tumors|tumor of the giant cell|giant cell tumor|giant cell tumors (morphologic abnormality)|giant cell tumor (qualifier value)|giant cell neoplasm|giant cell tumor NOS (morphologic abnormality) MESH:D005870|DOID:200|UMLS:C0017525|SCTID:443790001|NCIT:C3055 editor note: consider separate term for neoplasm (C3055 in NCIT) owl:Class CHEBI:16709 biolink:NamedThing pyridoxine A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. tmpte7i6ely_mondo_relaxed.owl 3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine|pyridoxine|2-methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine|vitamin B6|4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol|2-methyl-4,5-dimethylol-pyridin-3-ol|5-hydroxy-6-methyl-3,4-pyridinedimethanol|3-hydroxy-4,5-dimethylol-alpha-picoline|pyridoxinum|2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine|piridossina|pyridoxina|Pyridoxol|pyridoxolum|2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine|4,5-bis(hydroxymethyl)-2-methyl-pyridin-3-ol|3-hydroxy-2-picoline-4,5-dimethanol|2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin|2-methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine owl:Class CHEBI:27306 biolink:NamedThing vitamin B6 Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms). tmpte7i6ely_mondo_relaxed.owl vitamin B6 vitamers|vitamin B-6|Vitamin B6|vitamins B6|vitamin B6 vitamer|vitamina B6|vitamine B6 owl:Class UBERON:0004652 biolink:NamedThing humerus diaphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044645 biolink:NamedThing familial monosomy 7 syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:495930 owl:Class MONDO:0012482 biolink:NamedThing West Nile virus, susceptibility to tmpte7i6ely_mondo_relaxed.owl WNV, susceptibility to|West Nile virus, susceptibility to OMIM:610379 owl:Class HGNC:10664 biolink:NamedThing CWC27 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031334 biolink:NamedThing positive regulation of protein-containing complex assembly Any process that activates or increases the frequency, rate or extent of protein complex assembly. tmpte7i6ely_mondo_relaxed.owl up regulation of protein complex assembly|up-regulation of protein complex assembly|activation of protein complex assembly|positive regulation of protein complex assembly|stimulation of protein complex assembly|upregulation of protein complex assembly owl:Class GO:0031399 biolink:NamedThing regulation of protein modification process Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003836 biolink:NamedThing malignant thyroid stimulating hormone producing neoplasm of pituitary gland A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin. tmpte7i6ely_mondo_relaxed.owl thyrotropin producing pituitary gland carcinoma|malignant thyroid stimulating hormone secreting tumor of the pituitary|malignant TSH secreting tumor of pituitary|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant TSH producing neoplasm of the pituitary|malignant TSH producing tumor of pituitary|malignant thyroid stimulating hormone producing neoplasm of pituitary|malignant TSH secreting pituitary gland tumor|malignant TSH producing neoplasm of pituitary|malignant TSH secreting neoplasm of the pituitary|malignant TSH secreting tumor of the pituitary gland|malignant TSH secreting tumor of the pituitary|malignant thyrotropinoma|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant TSH secreting pituitary tumor|malignant TSH secreting pituitary neoplasm|malignant thyrotropinoma of the pituitary gland|malignant TSH producing pituitary gland tumor|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant thyroid stimulating hormone producing tumor|malignant TSH producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant TSH producing pituitary tumor|malignant TSH producing tumor of pituitary gland|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing pituitary gland neoplasm|malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing pituitary tumor|malignant TSH secreting pituitary gland neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant thyroid stimulating hormone secreting pituitary tumor|malignant TSH secreting tumor of pituitary gland|malignant TSH producing neoplasm of pituitary gland|malignant thyrotropinoma of pituitary|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant thyroid stimulating hormone producing tumor of pituitary|malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant thyroid stimulating hormone producing tumor of pituitary gland|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant thyrotropinoma of the pituitary|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant thyroid stimulating hormone secreting pituitary gland tumor|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|TSH-producing pituitary gland carcinoma|malignant TSH secreting neoplasm of pituitary|malignant TSH producing tumor of the pituitary gland|malignant pituitary gland thyrotropinoma|TSH producing pituitary gland carcinoma|malignant TSH secreting neoplasm of pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant thyrotropinoma of pituitary gland|malignant TSH producing tumor of the pituitary|malignant thyroid stimulating hormone producing tumor of the pituitary gland|malignant pituitary thyrotropinoma|malignant TSH producing pituitary neoplasm|malignant TSH secreting neoplasm of the pituitary gland DOID:6274|UMLS:C1334627|NCIT:C5965 owl:Class MONDO:0003837 biolink:NamedThing TSH producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin. tmpte7i6ely_mondo_relaxed.owl thyroid stimulating hormone secreting pituitary gland tumor|thyroid stimulating hormone producing neoplasm of pituitary|thyroid stimulating hormone secreting tumor of pituitary gland|thyroid stimulating hormone producing tumour|TSH secreting tumor of the pituitary gland|TSH producing neoplasm of pituitary gland|thyroid stimulating hormone producing neoplasm of the pituitary|TSH producing tumor of the pituitary gland|thyrotroph adenoma|thyroid stimulating hormone producing neoplasm of the pituitary gland|thyroid stimulating hormone producing tumor of pituitary|TSH secreting neoplasm of pituitary gland|TSH producing pituitary neoplasm|thyroid stimulating hormone secreting neoplasm of pituitary|TSH producing pituitary tumor|thyroid stimulating hormone secreting tumor of pituitary|TSH secreting pituitary gland neoplasm|TSH secreting neoplasm of pituitary|TSH secreting pituitary tumor|thyroid stimulating hormone secreting pituitary gland neoplasm|TSH producing tumor of the pituitary|thyroid stimulating hormone secreting tumor of the pituitary|TSH secreting tumor of pituitary gland|TSH secreting pituitary gland tumor|TSH secreting tumor of the pituitary|TSH secreting adenoma of the pituitary|TSH producing neoplasm of pituitary|TSH producing pituitary gland tumor|TSH producing pituitary gland neoplasm|thyroid stimulating hormone secreting pituitary neoplasm|thyroid stimulating hormone secreting pituitary tumor|TSH producing neoplasm of the pituitary gland|thyrotropin producing pituitary gland neoplasm|thyroid stimulating hormone secreting tumor of the pituitary gland|TSH-producing pituitary gland tumor|thyroid stimulating hormone secreting neoplasm of pituitary gland|TSH producing neoplasm of the pituitary|TSH secreting pituitary neoplasm|thyroid stimulating hormone secreting neoplasm of the pituitary|thyroid stimulating hormone producing pituitary gland neoplasm|thyrotropin-secreting pituitary adenoma|thyroid stimulating hormone producing tumor of pituitary gland|thyroid stimulating hormone producing pituitary gland tumor|TSH secreting tumor of pituitary|thyroid stimulating hormone producing pituitary tumor|thyroid stimulating hormone producing tumor of the pituitary|thyroid stimulating hormone producing pituitary neoplasm|thyroid stimulating hormone producing neoplasm of pituitary gland|TSH secreting neoplasm of the pituitary|TSH-oma|TSH producing tumor of pituitary|thyroid stimulating hormone secreting neoplasm of the pituitary gland|thyroid stimulating hormone producing tumor of the pituitary gland|TSH producing tumor of pituitary gland|TSH-producing pituitary gland neoplasm|TSH secreting neoplasm of the pituitary gland UMLS:C2362538|DOID:6275|UMLS:C0346303|SCTID:254959007|NCIT:C7915|NCIT:C8011 owl:Class HGNC:6545 biolink:NamedThing COG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017044 biolink:NamedThing adult familial nephronophthisis-spastic quadriparesia syndrome This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. tmpte7i6ely_mondo_relaxed.owl Orphanet:2666|UMLS:CN202376 owl:Class GO:1903787 biolink:NamedThing negative regulation of glutathione biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of glutathione formation|inhibition of glutathione biosynthetic process|down regulation of glutathione formation|negative regulation of glutathione anabolism|downregulation of glutathione biosynthetic process|inhibition of glutathione anabolism|downregulation of glutathione formation|down-regulation of glutathione anabolism|down regulation of glutathione synthesis|downregulation of glutathione anabolism|negative regulation of glutathione synthesis|inhibition of glutathione synthesis|down regulation of glutathione biosynthetic process|down regulation of glutathione biosynthesis|downregulation of glutathione synthesis|down-regulation of glutathione synthesis|down-regulation of glutathione biosynthesis|down-regulation of glutathione formation|downregulation of glutathione biosynthesis|down-regulation of glutathione biosynthetic process|inhibition of glutathione formation|inhibition of glutathione biosynthesis|down regulation of glutathione anabolism|negative regulation of glutathione biosynthesis owl:Class GO:0051175 biolink:NamedThing negative regulation of sulfur metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpte7i6ely_mondo_relaxed.owl negative regulation of sulphur metabolic process|down regulation of sulfur metabolic process|down-regulation of sulfur metabolic process|inhibition of sulfur metabolic process|negative regulation of sulphur metabolism|downregulation of sulfur metabolic process|negative regulation of sulfur metabolism owl:Class MONDO:0003313 biolink:NamedThing endometrioid stromal sarcoma of the vagina A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma. tmpte7i6ely_mondo_relaxed.owl endometrioid stromal sarcoma of vagina|vagina endometrioid stromal sarcoma|endometrioid stromal sarcoma of the vagina|vaginal endometrial stromal sarcoma UMLS:C3642329|NCIT:C40270|DOID:5170 owl:Class MONDO:0009486 biolink:NamedThing autosomal recessive Kenny-Caffey syndrome An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. tmpte7i6ely_mondo_relaxed.owl Kenny-Caffey syndrome type 1|KCS1|Kcs|Kenny-Caffey syndrome, autosomal recessive|Kenny-Caffey syndrome, type 1 Orphanet:93324|NCIT:C130992|ICD10:Q87.1|MESH:C537021|GARD:0008367|UMLS:C1855648|OMIM:244460|Orphanet:2333 https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 owl:Class MONDO:0100234 biolink:NamedThing paroxysmal familial ventricular fibrillation A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence. tmpte7i6ely_mondo_relaxed.owl IVF|idiopathic ventricular fibrillation|ventricular fibrillation, paroxysmal familial|paroxysmal familial ventricular fibrillation (disorder)|paroxysmal familial ventricular fibrillation|paroxysmal ventricular fibrillation|idiopathic ventricular fibrillation, non Brugada type Orphanet:228140|OMIM:603829|GARD:0004227|OMIM:612956 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2524 owl:Class MONDO:0000190 biolink:NamedThing ventricular fibrillation A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) tmpte7i6ely_mondo_relaxed.owl fibrillation, ventricular|VFib|ventricular fibrillation (disease)|ventricular fibrillation|VF ventricular fibrillation (disease) ICD9:427.41|SCTID:71908006|HP:0001663|UMLS:C0042510|MESH:D014693|EFO:0004287|NCIT:C50799 owl:Class MONDO:0000958 biolink:NamedThing neuroretinitis Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina. tmpte7i6ely_mondo_relaxed.owl focal retinitis and retinochoroiditis, juxtapapillary|Juxtapapillary focal retinitis and retinochoroiditis|papilloretinitis UMLS:C0154874|ICD9:363.05|DOID:10176|ICD10:H30.9 owl:Class MONDO:0006879 biolink:NamedThing optic papillitis Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) tmpte7i6ely_mondo_relaxed.owl Choked disk|edema, optic disk|papilledema associated with decreased intraocular pressure|optic nerve papillitis|edema, optic papilla|increased intracranial pressure associated papilledema|optic discitis|edema of the optic disc|disk, Choked|retinal Edemas|optic disc inflammation|papilledema associated with increased intracranial pressure|edema, retinal|retinal edema|papillitis, optic nerve|Edemas, optic disk|increased intracranial pressure-associated papilledema|disks, Choked|optic disk edema|decreased intraocular pressure-associated papilledema|papillitis|Edemas, retinal|papillitis, optic|optic papilla edema|decreased intraocular pressure associated papilledema|optic papillitis|inflammation of optic disc|Choked disks ICD9:377.00|SCTID:73221001|DOID:10175|ICD9:377.31|SCTID:6141006|MESH:D010211|ICD9:377.01|ICD9:362.83|MedDRA:10030948|ICD9:377.0|ICD10:H47.11|ICD10:H47.10|ICD10:H47.1|NCIT:C3307|EFO:1001074|ICD10:H35.81|ICD10:H46.0 owl:Class UBERON:0014402 biolink:NamedThing sex-specific anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006590 biolink:NamedThing thyroid hormone generation The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042403 biolink:NamedThing thyroid hormone metabolic process The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. tmpte7i6ely_mondo_relaxed.owl thyroid hormone metabolism owl:Class MONDO:0013432 biolink:NamedThing Meier-Gorlin syndrome 5 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene. tmpte7i6ely_mondo_relaxed.owl Meier-Gorlin syndrome caused by mutation in CDC6|Meier-GORLIN syndrome 5|Meier-Gorlin syndrome 5|CDC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 5|MGORS5 Orphanet:2554|DOID:0080516|OMIM:613805|UMLS:C3151126 owl:Class UBERON:0010801 biolink:NamedThing calcaneum pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015014 biolink:NamedThing calcaneum endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024311 biolink:NamedThing cancer affecting bone of limb skeleton A cancer that involves the limb bone. tmpte7i6ely_mondo_relaxed.owl limb bone cancer|malignant neoplasm of limb bone|cancer of limb bone|malignant limb bone neoplasm ICD10:C40 owl:Class MONDO:0012399 biolink:NamedThing complex cortical dysplasia with other brain malformations 7 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene. tmpte7i6ely_mondo_relaxed.owl complex cortical dysplasia with other brain malformations type 7|TUBB2B complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|PMGYSA|polymicrogyria due to TUBB2B mutation|cortical dysplasia, COMPLEX, with OTHER brain malformations 7|CDCBM7|polymicrogyria, symmetric or asymmetric|cortical dysplasia, Complex, with Other brain malformations 7 Orphanet:208444|Orphanet:300573|GARD:10783|DOID:0090132|UMLS:CN203403|Orphanet:268940|OMIM:610031|ICD10:Q04.3 owl:Class NCBITaxon:6267 biolink:NamedThing Anisakidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:33257 ncbi_taxonomy owl:Class NCBITaxon:33256 biolink:NamedThing Ascaridoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014493 biolink:NamedThing autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V. tmpte7i6ely_mondo_relaxed.owl ALPS type V|ALPS5|autoimmune lymphoproliferative syndrome type V|autoimmune lymphoproliferative syndrome, type 5|CTLA-4 haploinsufficiency with autoimmune infiltration disease|ALPS due to CTLA4 haploinsuffiency|CTLA4 haploinsufficiency|ALPS type 5|autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency|chai|autoimmune lymphoproliferative syndrome, type V|CTLA4 haploinsufficiency with autoimmune infiltration|autoimmune lymphoproliferative syndrome type 5 UMLS:C4015214|ICD10:D47.9|NCIT:C126341|GARD:0012316|Orphanet:436159|OMIM:616100 https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency owl:Class GO:0001805 biolink:NamedThing positive regulation of type III hypersensitivity Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl up regulation of type III hypersensitivity|up-regulation of type III hypersensitivity|activation of type III hypersensitivity|stimulation of type III hypersensitivity|upregulation of type III hypersensitivity owl:Class CHEBI:47811 biolink:NamedThing penamcarboxylate tmpte7i6ely_mondo_relaxed.owl penamcarboxylates owl:Class MONDO:0015374 biolink:NamedThing primary central nervous system vasculitis tmpte7i6ely_mondo_relaxed.owl primary central nervous system vasculitis|primary angiitis of the central nervous system|PCNSV|primary CNS vasculitis|PACNS|isolated angiitis of the central nervous system|primary vasculitis of the central nervous system|granulomatous angiitis of the central nervous system Orphanet:140989|MESH:C537295|GARD:0008703|ICD10:I67.7 https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system owl:Class GO:0040007 biolink:NamedThing growth The increase in size or mass of an entire organism, a part of an organism or a cell. tmpte7i6ely_mondo_relaxed.owl growth pattern|non-developmental growth owl:Class UBERON:0014703 biolink:NamedThing anal membrane ectodermal component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0037094 biolink:NamedThing wall of common carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030971 biolink:NamedThing immunodeficiency 78 with autoimmunity and developmental delay tmpte7i6ely_mondo_relaxed.owl IMD78|TPP2 deficiency|immunodeficiency 78 with autoimmunity and developmental delay OMIM:619220 owl:Class MONDO:0012872 biolink:NamedThing thrombophilia, familial, due to decreased release of tissue plasminogen activator tmpte7i6ely_mondo_relaxed.owl THPH9|hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator|thrombophilia, familial, due to decreased release of tissue plasminogen activator OMIM:612348|MESH:C567341 owl:Class UBERON:0035884 biolink:NamedThing maxillary-premaxillary suture tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060704 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures tmpte7i6ely_mondo_relaxed.owl Elhattab-Alkuraya syndrome|neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures|NEDSBAS UMLS:CN244929|OMIM:617977 owl:Class MONDO:0007208 biolink:NamedThing Boomerang dysplasia Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. tmpte7i6ely_mondo_relaxed.owl dwarfism with short, bowed, rigid limbs and characteristic facies|Boomerang dysplasia|Boomerang-like skeletal dysplasia OMIM:112310|MESH:C536573|ICD9:756.9|DOID:0050680|Orphanet:1263|UMLS:C0432201|SCTID:254054000|GARD:0000933|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia owl:Class MONDO:0017353 biolink:NamedThing neonatal glycine encephalopathy Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. tmpte7i6ely_mondo_relaxed.owl classic glycine encephalopathy|neonatal non-ketotic hyperglycinemia|neonatal NKH Orphanet:289857|ICD10:E72.5|UMLS:C0751748 owl:Class MONDO:0017781 biolink:NamedThing 12p12.1 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl Del(12)(p12.1)|monosomy 12p12.1 Orphanet:313884|ICD10:Q93.5|UMLS:CN203731|OMIM:616803 owl:Class MONDO:0022174 biolink:NamedThing chromosome 12p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. tmpte7i6ely_mondo_relaxed.owl deletion 12p|12p-|partial monosomy 12p|partial monosomy of the short arm of chromosome 12|partial monosomy of chromosome 12p|partial deletion of the short arm of chromosome 12|12p monosomy|partial deletion of the short arm of chromosome type 12|12p del|12p deletion|partial deletion of chromosome 12p|monosomy 12p|loss of chromosome 12p|del(12p) MESH:C538302|ICD10:Q93.5|Orphanet:316244|UMLS:C0795844|GARD:0006068|NCIT:C36410|MESH:C538301 https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion owl:Class MONDO:0014417 biolink:NamedThing spinocerebellar ataxia type 38 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 38|SCA38|spinocerebellar ataxia 38 SCTID:734021001|EFO:0009056|OMIM:615957|ICD10:G11.8|UMLS:C4014812|DOID:0050985|UMLS:C4518337|GARD:0012369|Orphanet:423296 owl:Class MONDO:0021350 biolink:NamedThing neoplasm of thorax A neoplasm (disease) that involves the thoracic segment of trunk. tmpte7i6ely_mondo_relaxed.owl neoplasm of the thorax|thoracic segment of trunk neoplasm (disease)|tumor of thoracic segment of trunk|thoracic segment of trunk tumor|thoracic neoplasm|thoracic segment of trunk neoplasm|tumor of the thorax|tumor of thorax|neoplasm of thoracic segment of trunk|thoracic tumor NCIT:C3406|UMLS:C0039981|SCTID:255058005|ICD9:239.89 owl:Class MONDO:0020466 biolink:NamedThing monosomy X tmpte7i6ely_mondo_relaxed.owl monosomy type X Orphanet:99226|SCTID:710008008|UMLS:C0041408|UMLS:CN776902|NCIT:C36630|ICD10:Q96.9 owl:Class UBERON:0005192 biolink:NamedThing deferent duct artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015591 biolink:NamedThing limbic encephalitis associated with antibodies to cell membrane antigens tmpte7i6ely_mondo_relaxed.owl Orphanet:163903|ICD10:G13.1 owl:Class MONDO:0012169 biolink:NamedThing premature ovarian failure 3 tmpte7i6ely_mondo_relaxed.owl Pof3|premature ovarian failure type 3|premature ovarian failure 3 MESH:C563816|OMIM:608996|UMLS:C1837008 owl:Class MONDO:0014975 biolink:NamedThing autosomal recessive spastic paraplegia type 78 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene. tmpte7i6ely_mondo_relaxed.owl SPG78|ATP13A2 hereditary spastic paraplegia|spastic paraplegia 78, autosomal recessive|hereditary spastic paraplegia caused by mutation in ATP13A2|spastic paraplegia 78, autosomal recessive; SPG78 UMLS:C4310662|Orphanet:513436|OMIM:617225 owl:Class UBERON:0010688 biolink:NamedThing skeleton of manual acropodium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010543 biolink:NamedThing acropodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051253 biolink:NamedThing negative regulation of RNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpte7i6ely_mondo_relaxed.owl down regulation of RNA metabolic process|downregulation of RNA metabolic process|inhibition of RNA metabolic process|negative regulation of RNA metabolism|down-regulation of RNA metabolic process owl:Class MONDO:0015217 biolink:NamedThing non-syndromic developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic developmental defect of the eye|isolated developmental defect of the eye Orphanet:108985 owl:Class MONDO:0019010 biolink:NamedThing congenital isolated hyperinsulinism Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. tmpte7i6ely_mondo_relaxed.owl chi|hyperinsulinemic hypoglycemia familial|hyperinsulinism familial with pancreatic nesidioblastosis|congenital hyperinsulinism|hypoglycemia hyperinsulinemic of infancy|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinism congenital|PHHI NCIT:C122923|ICD10:E16.1|Orphanet:657|GARD:0003947 owl:Class UBERON:1000004 biolink:NamedThing collection of hair on external ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010164 biolink:NamedThing collection of hairs tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003421 biolink:NamedThing mixed cell adenoma An adenoma characterized by the presence of a mixed epithelial cell population. tmpte7i6ely_mondo_relaxed.owl mixed cell adenoma ICDO:8323/0|DOID:5385|UMLS:C0334323|NCIT:C4157 owl:Class MONDO:0022901 biolink:NamedThing Crohn disease of the esophagus An Crohn disease involving a pathogenic inflammatory response in the esophagus. tmpte7i6ely_mondo_relaxed.owl Crohn's disease of the esophagus GARD:0000203|UMLS:C0341116 owl:Class UBERON:0013161 biolink:NamedThing left lateral ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002285 biolink:NamedThing telencephalic ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001332 biolink:NamedThing prepuce of penis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011374 biolink:NamedThing prepuce tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018607 biolink:NamedThing combined hamartoma of the retina and retinal pigment epithelium tmpte7i6ely_mondo_relaxed.owl combined hamartoma of the retina and RPE|CHR-RPE UMLS:C1862062|Orphanet:440727|UMLS:CN237641 owl:Class MONDO:0021220 biolink:NamedThing eye neoplasm A neoplasm (disease) that involves the eye. tmpte7i6ely_mondo_relaxed.owl tumor of the eye|eyeball of camera-type eye neoplasm|neoplasm of eyeball of camera-type eye|ocular tumor|neoplasm of eye|tumor of eyeball of camera-type eye|eye tumor|eyeball of camera-type eye tumor|eye neoplasm (disease)|neoplasm of the eye|tumor of eye|ocular neoplasm NCIT:C3030|ONCOTREE:EYE owl:Class GO:0098793 biolink:NamedThing presynapse The part of a synapse that is part of the presynaptic cell. tmpte7i6ely_mondo_relaxed.owl presynaptic terminal owl:Class GO:2000829 biolink:NamedThing negative regulation of parathyroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of parathyroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl negative regulation of parathyrin secretion|negative regulation of PTH secretion|negative regulation of parathormone secretion owl:Class MONDO:0009006 biolink:NamedThing complement component 2 deficiency Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion. tmpte7i6ely_mondo_relaxed.owl C2 complement deficiency|complement deficiency caused by mutation in C2|complement component 2 deficiency|C2 deficiency|C2D Orphanet:169147|OMIM:217000|DOID:0060295|GARD:0001452|UMLS:C3150275|NCIT:C119992|ICD10:D84.1 https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency owl:Class MONDO:0007006 biolink:NamedThing ulnar neuropathy Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) tmpte7i6ely_mondo_relaxed.owl ulnar neuropathy (disorder) [ambiguous]|mononeuropathy of ulnar nerve|ulnar neuropathy|ulnar nerve mononeuropathy EFO:1001224|UMLS:C0154743|DOID:4613|MESH:D020424|SCTID:359837005 owl:Class NCBITaxon:31969 biolink:NamedThing Mollicutes tmpte7i6ely_mondo_relaxed.owl Mycoplasmas and walled relatives|mycoplasmas|Paramycetes PMID:23606477|PMID:8863413|PMID:11321122|GC_ID:11|PMID:15143038|PMID:8123554|PMID:17978244|PMID:8863414|PMID:2592342 ncbi_taxonomy owl:Class NCBITaxon:544448 biolink:NamedThing Tenericutes tmpte7i6ely_mondo_relaxed.owl Mollicutota|Mollicutaeota GC_ID:11|PMID:26654112|PMID:29458499 ncbi_taxonomy owl:Class MONDO:0002712 biolink:NamedThing epidural spinal canal angiolipoma An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal. tmpte7i6ely_mondo_relaxed.owl epidural space angiolipoma|angiolipoma of extradural spinal canal|extradural spinal canal angiolipoma|angiolipoma of epidural spinal canal|angiolipoma of the extradural spinal canal|angiolipoma of the epidural spinal canal|angiolipoma of epidural space DOID:3617|UMLS:C1333416|NCIT:C5424 owl:Class MONDO:0006085 biolink:NamedThing angiolipoma A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. tmpte7i6ely_mondo_relaxed.owl angiolipoma, benign SCTID:404057003|NCIT:C3733|DOID:3616|MESH:D018206|UMLS:C0206632|ICDO:8861/0|EFO:1000085 owl:Class GO:0034759 biolink:NamedThing regulation of iron ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl regulation of transmembrane Fe transport|regulation of iron ion membrane transport|regulation of transmembrane iron transport|regulation of transmembrane iron ion transport owl:Class GO:0034756 biolink:NamedThing regulation of iron ion transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl regulation of iron ion import|regulation of iron transport|regulation of iron import|regulation of Fe transport owl:Class CL:0001068 biolink:NamedThing ILC1 A group 1 innate lymphoid cell that is non-cytotoxic. tmpte7i6ely_mondo_relaxed.owl 2017-01-30 20:54:12+00:00 cell owl:Class MONDO:0001649 biolink:NamedThing fungal esophagitis Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. tmpte7i6ely_mondo_relaxed.owl fungal esophagitis SCTID:235602008|DOID:13147|NCIT:C27107|ICD9:117.9|UMLS:C0341109 owl:Class MONDO:0012851 biolink:NamedThing hypophosphatemic nephrolithiasis/osteoporosis 2 tmpte7i6ely_mondo_relaxed.owl hypophosphatemic nephrolithiasis/osteoporosis type 2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|nephrolithiasis/osteoporosis, hypophosphatemic, 2|NPHLOP2 UMLS:C2676782|OMIM:612287|DOID:0080078|MESH:C567362|Orphanet:244305 owl:Class MONDO:0018575 biolink:NamedThing microcephalic primordial dwarfism-insulin resistance syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN237592|ICD10:Q87.1|OMIM:617253|Orphanet:436182|OMIM:616541 owl:Class ENVO:00001998 biolink:NamedThing soil Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms. tmpte7i6ely_mondo_relaxed.owl regolith owl:Class MONDO:0009881 biolink:NamedThing pituitary dwarfism with large sella turcica tmpte7i6ely_mondo_relaxed.owl pituitary dwarfism with large sella turcica OMIM:262710|GARD:0010607|MESH:C562705|UMLS:C0271575|SCTID:27270004|ICD9:253.8 https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica owl:Class MONDO:0014972 biolink:NamedThing chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted. tmpte7i6ely_mondo_relaxed.owl OMIM:617219|UMLS:C4311046 owl:Class MONDO:0013090 biolink:NamedThing chromosome 19q13.11 deletion syndrome The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. tmpte7i6ely_mondo_relaxed.owl 19q13.11 microdeletion syndrome|monosomy 19q13.11|Del(19)(q13.11)|chromosome 19q13.11 deletion syndrome, distal|chromosome 19Q13.11 deletion syndrome, distal OMIM:613026|ICD10:Q93.5|UMLS:C4304577|MESH:C567810|UMLS:C2751651|GARD:0010592|SCTID:719599008|Orphanet:217346|DOID:0060408 https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome owl:Class GO:0030198 biolink:NamedThing extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. tmpte7i6ely_mondo_relaxed.owl extracellular matrix organization and biogenesis|extracellular matrix organisation owl:Class GO:0043062 biolink:NamedThing extracellular structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. tmpte7i6ely_mondo_relaxed.owl extracellular structure organisation|extracellular structure organization and biogenesis owl:Class MONDO:0030462 biolink:NamedThing Joubert syndrome 40 tmpte7i6ely_mondo_relaxed.owl JBTS40 OMIM:619582 owl:Class MONDO:0013798 biolink:NamedThing chromosome 16q22 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 16q22 deletion syndrome OMIM:614541|DOID:0060401|UMLS:C3281152 owl:Class MONDO:0002130 biolink:NamedThing upper limb mononeuronitis A disease affecting a single peripheral nerve of the upper limb. tmpte7i6ely_mondo_relaxed.owl forelimb mononeuritis simplex|mononeuritis of upper limb|mononeuritis upper limb|mononeuritis of upper limb, unspecified|mononeuritis simplex of forelimb ICD9:354.9|DOID:1844 owl:Class MONDO:0002121 biolink:NamedThing mononeuritis simplex Neuritis of a single nerve. tmpte7i6ely_mondo_relaxed.owl mononeuritis SCTID:32595002|UMLS:C0235880|DOID:1802|ICD9:355.9 owl:Class MONDO:0021505 biolink:NamedThing benign neoplasm of endocardium A benign neoplasm that involves the endocardium. tmpte7i6ely_mondo_relaxed.owl benign endocardial neoplasm|endocardium benign neoplasm|benign endocardial tumor|benign tumor of endocardium|benign neoplasm of the endocardium|benign tumor of the endocardium UMLS:C0347254|SCTID:92083007|NCIT:C4608 owl:Class MONDO:0013381 biolink:NamedThing neuropathy, hereditary sensory, type 1D A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q. tmpte7i6ely_mondo_relaxed.owl hereditary sensory neuropathy type 1D|neuropathy, hereditary sensory, type ID|hereditary sensory neuropathy type ID|HSN1D OMIM:613708|UMLS:C3150972|Orphanet:36386|DOID:0070156 owl:Class GO:0099531 biolink:NamedThing presynaptic process involved in chemical synaptic transmission The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005732 biolink:NamedThing paired limb/fin field tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019824 biolink:NamedThing non-acquired pituitary hormone deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:E23.0|Orphanet:95488 Editor note: consider merging with familial hypopituitarism owl:Class MONDO:0100090 biolink:NamedThing congenital alveolar dysplasia due to FGF10 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. tmpte7i6ely_mondo_relaxed.owl CAD due to FGF10 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0021497 biolink:NamedThing benign neoplasm of cerebrum A benign neoplasm that involves the telencephalon. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the cerebrum|benign cerebral tumor|benign tumor of cerebrum|benign tumor of cerebral hemispheres|telencephalon benign neoplasm|benign tumor of the cerebrum|benign neoplasm of cerebral hemispheres|benign cerebral hemispheric tumor|benign tumor of the cerebral hemispheres|benign cerebral hemispheric neoplasm|benign neoplasm of the cerebral hemispheres|benign cerebral neoplasm UMLS:C0686378|SCTID:275269004|NCIT:C8548 owl:Class ECTO:9001942 biolink:NamedThing exposure to food additive An exposure to food additive. tmpte7i6ely_mondo_relaxed.owl exposure to food additive owl:Class ECTO:0000486 biolink:NamedThing exposure to chemical with application An exposure to application. tmpte7i6ely_mondo_relaxed.owl exposure to application owl:Class MONDO:0009908 biolink:NamedThing pterin-4 alpha-carbinolamine dehydratase 1 deficiency Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency|PCBD1 deficiency|hyperphenylalaninemia with primapterinuria|PCBD deficiency|hyperphenylalaninemia, Bh4-deficient, type D|pterin-4 alpha-carbinolamine dehydratase 1 deficiency|hyperphenylalaninemia due to dehydratase deficiency|PCD deficiency|CADH deficiency|pterin-4 alpha-carbinolamine dehydratase deficiency|HPABH4D|hyperphenylalaninemia, BH4-deficient, D|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|dehydratase deficiency ICD9:277.6|GARD:0002843|Orphanet:238583|MESH:C538382|ICD10:E70.1|SCTID:124646004|Orphanet:1578|OMIM:264070 This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband. owl:Class MONDO:0004708 biolink:NamedThing esophagus carcinoma in situ Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.) tmpte7i6ely_mondo_relaxed.owl esophagus in situ carcinoma|carcinoma in situ of esophagus|severe esophageal dysplasia aJCC v7|esophageal carcinoma in situ aJCC v7|stage 0 esophageal cancer aJCC v7|stage 0 carcinoma of the esophagus|stage 0 esophageal cancer|stage 0 esophageal carcinoma in situ|stage 0 esophagus carcinoma|severe esophageal dysplasia|esophageal carcinoma in situ UMLS:C0154059|DOID:9095|ICD9:230.1|SCTID:92585006|NCIT:C89771|ICD10:D00.1 owl:Class UBERON:0007475 biolink:NamedThing matrix-based tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045017 biolink:NamedThing glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. tmpte7i6ely_mondo_relaxed.owl glycerolipid formation|glycerolipid anabolism|glycerolipid synthesis|glycerolipid biosynthesis owl:Class NCBITaxon:33343 biolink:NamedThing Prosorrhyncha tmpte7i6ely_mondo_relaxed.owl bugs|Heteropterodea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7524 biolink:NamedThing Hemiptera tmpte7i6ely_mondo_relaxed.owl bugs GC_ID:1|PMID:7666451 ncbi_taxonomy owl:Class MONDO:0018629 biolink:NamedThing focal stiff limb syndrome tmpte7i6ely_mondo_relaxed.owl Stiff leg syndrome|focal stiff-person syndrome OMIM:184850|ICD10:G25.8|UMLS:CN237672|Orphanet:443804 owl:Class MONDO:0008082 biolink:NamedThing multiple endocrine neoplasia type 2B Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. tmpte7i6ely_mondo_relaxed.owl men type 2B|men IIB|multiple endocrine adenomatosis type IIB|men type IIB|men 2B|multiple endocrine neoplasia, type III, formerly|MEN2B|Wagenmann-Froboese syndrome|multiple endocrine neoplasia, type IIB|mucosal neuroma syndrome|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia type 3|multiple endocrine neoplasia type 2B|mucosal Neuroma syndrome|multiple endocrine neoplasia type III|multiple endocrine neoplasia, type 3|multiple endocrine neoplasia, type 2B|multiple endocrine neoplasia, type 3 (formerly)|multiple endocrine neoplasia type IIB|multiple endocrine neoplasia, type III DOID:10016|MedDRA:10056420|ICD9:237.4|ICD9:258.03|ICD10:D44.8|ICD10:E31.23|SCTID:61530001|OMIM:162300|MESH:D018814|Orphanet:653|Orphanet:247709|GARD:0010225|UMLS:C0025269|NCIT:C3227 https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b owl:Class ENVO:09200012 biolink:NamedThing temperature of soil The temperature of some soil. tmpte7i6ely_mondo_relaxed.owl soil temperature owl:Class MONDO:0006202 biolink:NamedThing extrahepatic bile duct adenosquamous carcinoma A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components. tmpte7i6ely_mondo_relaxed.owl adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous bile duct carcinoma|extrahepatic bile duct adenosquamous carcinoma UMLS:C0861854|NCIT:C5778|EFO:1000247 owl:Class MONDO:0003549 biolink:NamedThing adenosquamous bile duct carcinoma An adenosquamous carcinoma that arises from the bile ducts. tmpte7i6ely_mondo_relaxed.owl adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous bile duct carcinoma DOID:5624|NCIT:C5778|UMLS:C0861854 owl:Class MONDO:0006490 biolink:NamedThing vaginal squamous cell carcinoma A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease. tmpte7i6ely_mondo_relaxed.owl vagina epidermoid cell carcinoma|epidermoid carcinoma of the vagina|vaginal squamous cell carcinoma|squamous cell carcinoma of the vagina|vagina squamous cell carcinoma|vaginal squamous cell cancer|squamous cell carcinoma of the vulva/vagina|carcinoma of vagina squamous cell|epidermoid cell carcinoma of the vagina|vaginal epidermoid carcinoma|epidermoid carcinoma of vagina|vaginal squamous cell cancer, NOS|epidermoid cell carcinoma of vagina|squamous cell carcinoma of vagina|vagina epidermoid carcinoma|vaginal epidermoid cell carcinoma ONCOTREE:VSC|NCIT:C7736|SCTID:105121000119102|EFO:1000620|UMLS:C0238518 owl:Class HGNC:13210 biolink:NamedThing ARL6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004600 biolink:NamedThing monocytic leukemia tmpte7i6ely_mondo_relaxed.owl schilling's leukemia SCTID:188744006|ICD9:206.8|ICD9:206.90|DOID:8527|ICD10:C93.Z0|ICD9:206.91|ICD9:206.81|ICD10:C93.Z|ICD9:206.80 owl:Class GO:0007268 biolink:NamedThing chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpte7i6ely_mondo_relaxed.owl signal transmission across a synapse|synaptic transmission|neurotransmission owl:Class MONDO:0007788 biolink:NamedThing hypertriglyceridemia, familial An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease) OMIM:145750|SCTID:34528009 owl:Class MONDO:0009818 biolink:NamedThing autosomal recessive osteopetrosis 3 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. tmpte7i6ely_mondo_relaxed.owl OPTB3|osteopetrosis with renal tubular acidosis|renal tubular acidosis type 3|Guibaud Vainsel syndrome|osteopetrosis, autosomal recessive type 3|marble brain disease|osteopetrosis autosomal recessive 3|autosomal recessive osteopetrosis type 3|Guibaud-Vainsel syndrome|osteopetrosis (disease) caused by mutation in CA2|mixed RTA|Autosomal Recessive osteopetrosis, type 3|carbonic anhydrase 2 deficiency|osteopetrosis, autosomal recessive 3|autosomal recessive osteopetrosis 3 with renal tubular acidosis|CA2 osteopetrosis (disease)|mixed renal tubular acidosis|carbonic anhydrase II deficiency ICD10:Q78.2|OMIM:267200|MESH:C536058|ICD9:588.89|OMIM:259730|Orphanet:2785|NCIT:C118438|SCTID:254122007|DOID:0110941|GARD:0004154 https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 owl:Class MONDO:0017828 biolink:NamedThing primary renal tubular acidosis tmpte7i6ely_mondo_relaxed.owl ICD10:N25.8|Orphanet:314822 owl:Class MONDO:0002244 biolink:NamedThing factor VII deficiency A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. tmpte7i6ely_mondo_relaxed.owl deficiency, stable|F7 deficiency|factor 7 deficiency|factor VII deficiency UMLS:C0015503|ICD9:286.3|SCTID:37193007|MESH:D005168 owl:Class GO:0033603 biolink:NamedThing positive regulation of dopamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. tmpte7i6ely_mondo_relaxed.owl upregulation of dopamine secretion|stimulation of dopamine secretion|activation of dopamine secretion|up regulation of dopamine secretion|up-regulation of dopamine secretion owl:Class UBERON:2005260 biolink:NamedThing fenestrated capillary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004227 biolink:NamedThing epididymal adenomatoid tumor A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis. tmpte7i6ely_mondo_relaxed.owl adenomatoid neoplasm of epididymis|adenomatoid neoplasm of the epididymis|benign epididymal epithelial mesothelioma|epididymal adenomatoid tumor|epididymis adenomatoid tumor|adenomatoid tumor of the epididymis|adenomatoid tumor of epididymis SCTID:449052009|DOID:745|NCIT:C6382|UMLS:C1333415 owl:Class MONDO:0004230 biolink:NamedThing adenomatoid tumor A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis. tmpte7i6ely_mondo_relaxed.owl adenomatoid tumor NOS (morphologic abnormality)|adenomatoid tumor (morphologic abnormality)|benign localized epithelial mesothelioma|mesothelioma, benign|benign tumor of the mesothelium|benign mesothelial neoplasm|benign neoplasm of the mesothelium|benign tumor of mesothelium|adenomatoid tumor|benign mesothelioma|benign mesothelial tumor|adenomatoid tumor, benign|benign neoplasm of mesothelium MESH:D018254|DOID:746|ICDO:9050/0|UMLS:C0206675|ICDO:9052/0|ICD10:D19.9|NCIT:C3762|ICDO:9054/0 owl:Class HGNC:13887 biolink:NamedThing ABCG8 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q11 biolink:NamedThing 15q11 (Human) tmpte7i6ely_mondo_relaxed.owl 25500000 19000000 hg38 owl:Class CHEBI:33246 biolink:NamedThing inorganic group Any substituent group which does not contain carbon. tmpte7i6ely_mondo_relaxed.owl inorganic groups owl:Class CHEBI:24433 biolink:NamedThing group A defined linked collection of atoms or a single atom within a molecular entity. tmpte7i6ely_mondo_relaxed.owl groupe|Rest|grupo|grupos|Gruppe|group owl:Class NCBITaxon:210 biolink:NamedThing Helicobacter pylori tmpte7i6ely_mondo_relaxed.owl Campylobacter pylori subsp. pylori|Campylobacter pyloridis|Campylobacter pylori|Helicobacter nemestrinae PMID:8186097|PMID:8494747|PMID:1995031|PMID:11931154|GC_ID:11 NCBITaxon:219 ncbi_taxonomy owl:Class NCBITaxon:209 biolink:NamedThing Helicobacter tmpte7i6ely_mondo_relaxed.owl PMID:15143020|PMID:11156001|PMID:17329766|GC_ID:11|PMID:1704793|PMID:29034857 NCBITaxon:28203 ncbi_taxonomy owl:Class MONDO:0008243 biolink:NamedThing Pick disease A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. tmpte7i6ely_mondo_relaxed.owl Pick disease of the brain|dementia in Pick's disease|lobar atrophy of brain|Pick disease|Pick's disease|PICK disease of brain|lobar atrophy of the brain|dementia with lobar atrophy and neuronal cytoplasmic inclusions MESH:D020774|UMLS:C0236642|EFO:0003096|Orphanet:282|ICD9:331.11|NCIT:C85008|ICD10:G31.01|GARD:0007392|SCTID:13092008|DOID:11870|OMIM:172700 owl:Class MONDO:0024238 biolink:NamedThing cerebral degeneration A neurodegenerative disease that involves the telencephalon. tmpte7i6ely_mondo_relaxed.owl cerebral degeneration|telencephalon neurodegenerative disease|neurodegenerative disease of telencephalon SCTID:418143002|UMLS:C0154671|ICD9:331.9 owl:Class MONDO:0025085 biolink:NamedThing hepatitis, viral, animal Inflammation of the liver in animals due to viral infection. tmpte7i6ely_mondo_relaxed.owl MESH:D006524 owl:Class MONDO:0024945 biolink:NamedThing hepatitis, non-human animal Inflammation of the liver in non-human animals. tmpte7i6ely_mondo_relaxed.owl Hepatitides, animal|animal Hepatitides|animal Hepatitis MESH:D006520 owl:Class HGNC:6118 biolink:NamedThing IRF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008609 biolink:NamedThing Tristichiasis tmpte7i6ely_mondo_relaxed.owl Tristichiasis|eyelashes, three rows of OMIM:190800 owl:Class MONDO:0002578 biolink:NamedThing botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpte7i6ely_mondo_relaxed.owl sarcoma botryoides|botryoid sarcoma|botryoid-type embryonal rhabdomyosarcoma|botryoid sarcoma (morphologic abnormality) NCIT:C9150|UMLS:C1306573|SCTID:404052009|UMLS:C1306574|GARD:0009398|ICD9:171.9|DOID:3255 owl:Class MONDO:0006539 biolink:NamedThing diffuse lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. tmpte7i6ely_mondo_relaxed.owl diffuse lipomatosis NCIT:C6504|UMLS:C1333298|EFO:1000687|DOID:3923 owl:Class MONDO:0006574 biolink:NamedThing lipomatosis A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. tmpte7i6ely_mondo_relaxed.owl lipomatosis|Launois-Bensaude syndrome|Madelung's disease|Madelung disease SCTID:402693001|ICD10:E88.2|DOID:3153|MESH:D008068|Wikipedia:Lipomatosis|UMLS:C0023801|ICD9:272.8|NCIT:C3193|EFO:1000728 owl:Class HGNC:9004 biolink:NamedThing PITX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010890 biolink:NamedThing acrocardiofacial syndrome Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl acrocardiofacial syndrome|CCGE|cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|ACFS|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|CCGE syndrome Orphanet:2008|GARD:0001167|MESH:C563936|OMIM:600460|UMLS:C1838121|ICD10:Q87.8 owl:Class MONDO:0002872 biolink:NamedThing trophoblastic neoplasm A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. tmpte7i6ely_mondo_relaxed.owl trophoblastic tumor (qualifier value)|neoplasm of trophoblast|trophoblastic neoplasm (morphologic abnormality)|trophoblastic tumor|trophoblast neoplasm|tumor of trophoblast|trophoblast neoplasm (disease)|trophoblastic neoplasm|trophoblastic neoplasms|trophoblast tumor|trophoblastic neoplasm NOS (morphologic abnormality) NCIT:C3422|DOID:4085|UMLS:C0041182|MESH:D014328 owl:Class GO:0032413 biolink:NamedThing negative regulation of ion transmembrane transporter activity Any process that stops or reduces the activity of an ion transporter. tmpte7i6ely_mondo_relaxed.owl downregulation of ion transporter activity|negative regulation of ion transporter activity|down regulation of ion transporter activity|inhibition of ion transporter activity|down-regulation of ion transporter activity owl:Class GO:0032412 biolink:NamedThing regulation of ion transmembrane transporter activity Any process that modulates the activity of an ion transporter. tmpte7i6ely_mondo_relaxed.owl regulation of ion transporter activity owl:Class MONDO:0005429 biolink:NamedThing prion disease A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. tmpte7i6ely_mondo_relaxed.owl prion protein disease|prion disease pathway|prion induced disorder|spongiform encephalopathy OMIM:606688|ICD10:A81.9|DOID:649|KEGG:05020|EFO:0004720|SCTID:230284004|OMIM:245300|NCIT:C128346|MESH:D017096|ICD9:046.19 Editor note: check relationship to spongiform encephalopathy NCIT:C27585 owl:Class MONDO:0017478 biolink:NamedThing amelia of upper limb, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295053|ICD10:Q71.0 owl:Class MONDO:0011721 biolink:NamedThing distal myopathy with anterior tibial onset tmpte7i6ely_mondo_relaxed.owl distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT DOID:0111187|UMLS:C1847532|OMIM:606768|Orphanet:178400|MESH:C564664|ICD10:G71.0 owl:Class MONDO:0024611 biolink:NamedThing orbit neoplasm A benign or malignant neoplasm that affects the orbit. tmpte7i6ely_mondo_relaxed.owl orbital tumor|orbital neoplasms|neoplasm of the orbit|orbit tumor|neoplasm of orbit of skull|orbit of skull tumor|tumor of orbit|orbit of skull neoplasm|orbit neoplasm|orbital neoplasm|tumor of the orbit|tumor of orbit of skull|neoplasm of orbit NCIT:C3290 owl:Class MONDO:0001801 biolink:NamedThing staphyloma posticum tmpte7i6ely_mondo_relaxed.owl ICD10:H15.83|DOID:13789|ICD9:379.12|SCTID:87819007|UMLS:C0155360 owl:Class MONDO:0001321 biolink:NamedThing scleral staphyloma tmpte7i6ely_mondo_relaxed.owl scleral staphyloma|scleral staphyloma (disease)|scleral ectasia scleral staphyloma (disease) HP:0030854|DOID:11595|SCTID:111534007|UMLS:C0155359|ICD9:379.11|ICD10:H15.84 Editor note: consider obsoleting as is finding owl:Class MONDO:0014733 biolink:NamedThing Charcot-Marie-Tooth disease type 4K SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). tmpte7i6ely_mondo_relaxed.owl autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth disease, type 4K|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type 4k|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|CMT4K|SURF1-related CMT4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K|SURF1 Charcot-Marie-Tooth disease type 4|SURF1-related Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1 Orphanet:391351|DOID:0110187|SCTID:765047006|UMLS:C4225246|OMIM:616684|ICD10:G60.0 owl:Class MONDO:0030930 biolink:NamedThing neurodevelopmental disorder with or without early-onset generalized epilepsy tmpte7i6ely_mondo_relaxed.owl NEDEGE OMIM:619157 owl:Class GO:0098773 biolink:NamedThing skin epidermis development The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030141 biolink:NamedThing secretory granule A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. tmpte7i6ely_mondo_relaxed.owl secretory vesicle owl:Class GO:0099503 biolink:NamedThing secretory vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017008 biolink:NamedThing partial duplication of chromosome X tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome X|partial duplication of chromosome type X ICD10:Q99.8|Orphanet:263768 owl:Class UBERON:0003050 biolink:NamedThing olfactory placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019764 biolink:NamedThing laryngotracheoesophageal cleft type 4 Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. tmpte7i6ely_mondo_relaxed.owl LTEC IV|LTEC4|laryngo-tracheo-esophageal cleft type 4 ICD10:Q32.1|UMLS:CN206699|Orphanet:93941 owl:Class MONDO:0012251 biolink:NamedThing MEDNIK syndrome MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). tmpte7i6ely_mondo_relaxed.owl erythrokeratodermia variabilis, Kamouraska type|erythrokeratodermia variabilis 3|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|MEDNIK|mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma DOID:0060483|UMLS:C1836330|UMLS:CN229776|SCTID:722035007|OMIM:609313|Orphanet:171851|MESH:C563739 owl:Class GO:0045652 biolink:NamedThing regulation of megakaryocyte differentiation Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045637 biolink:NamedThing regulation of myeloid cell differentiation Any process that modulates the frequency, rate or extent of myeloid cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006111 biolink:NamedThing regulation of gluconeogenesis Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpte7i6ely_mondo_relaxed.owl regulation of glucose biosynthesis|regulation of gluconeogenesis involved in cellular glucose homeostasis|regulation of glucose biosynthetic process owl:Class MONDO:0012893 biolink:NamedThing osteoarthritis susceptibility 5 Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene. tmpte7i6ely_mondo_relaxed.owl osteoarthritis of hip|GDF5 osteoarthritis|osteoarthritis caused by mutation in GDF5|OS5|osteoarthritis susceptibility 5|osteoarthritis susceptibility type 5 SCTID:239872002|OMIM:612400|UMLS:C0029410 owl:Class OBO:CHR_9606-chr20p12 biolink:NamedThing 20p12 (Human) tmpte7i6ely_mondo_relaxed.owl 17900000 5100000 hg38 owl:Class GO:0045985 biolink:NamedThing positive regulation of pyrimidine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpte7i6ely_mondo_relaxed.owl activation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism|upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|up-regulation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process owl:Class GO:0045935 biolink:NamedThing positive regulation of nucleobase-containing compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpte7i6ely_mondo_relaxed.owl stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class MONDO:0010420 biolink:NamedThing X-linked erythropoietic protoporphyria X-linked form of erythropoietic protoporphyria. tmpte7i6ely_mondo_relaxed.owl XLP|Erythrohepatic protoporphyria, X-linked|XLPP|X-linked dominant erythropoietic protoporphyria|protoporphyria, erythropoietic, X-linked|XLDPP|erythropoietic protoporphyria, X-linked|X-linked dominant protoporphyria|XLEPP|protoporphyria, erythropoietic, X-linked dominant Orphanet:443197|Orphanet:79278|ICD10:E80.0|GARD:0010915|MESH:C567464|OMIM:300752 owl:Class MONDO:0009620 biolink:NamedThing Say-Barber-Miller syndrome Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. tmpte7i6ely_mondo_relaxed.owl microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|microcephaly hypogammaglobulinemia abnormal immunity|microcephaly with chemotactic defect and transient hypogammaglobulinemia|Say Barber Miller syndrome GARD:0000239|MESH:C536618|SCTID:721903007|ICD10:Q87.8|Orphanet:3132|OMIM:251240 https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome owl:Class UBERON:0010545 biolink:NamedThing metatarsus skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014102 biolink:NamedThing hypogonadotropic hypogonadism 17 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism 17 with or without anosmia|SPRY4 hypogonadotropic hypogonadism|HH17|hypogonadotropic hypogonadism caused by mutation in SPRY4 OMIM:615266|DOID:0090079|Orphanet:478|UMLS:C3808971|ICD10:E23.0 owl:Class MONDO:0002540 biolink:NamedThing childhood oligodendroglioma An oligodendroglioma that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl oligodendroglioma of childhood|oligodendroglioma|pediatric oligodendroglioma MESH:D009837|NCIT:C4045|UMLS:C0280475|DOID:3183 owl:Class GO:0032649 biolink:NamedThing regulation of interferon-gamma production Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpte7i6ely_mondo_relaxed.owl regulation of type II interferon production|regulation of interferon-gamma biosynthetic process|regulation of interferon-gamma secretion owl:Class MONDO:0044331 biolink:NamedThing genetic transient congenital hypothyroidism An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary transient congenital hypothyroidism Orphanet:226316|ICD10:P72.2 owl:Class MONDO:0001667 biolink:NamedThing streptobacillus infectious disease tmpte7i6ely_mondo_relaxed.owl infection caused by streptobacillus|streptobacillus infection UMLS:C0947939|SCTID:721738002 owl:Class MONDO:0010203 biolink:NamedThing intellectual disability, Wolff type Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. tmpte7i6ely_mondo_relaxed.owl Wolff-Zimmermann syndrome|WOLFF intellectual disability syndrome|WOLFF mental retardation syndrome ICD10:Q87.0|OMIM:277990|MESH:C537448|Orphanet:3080|UMLS:C1848439 owl:Class MONDO:0006055 biolink:NamedThing sex cord-stromal tumor A neoplasm involving a sex cord. tmpte7i6ely_mondo_relaxed.owl sex cord neoplasm|sex cord-stromal tumor|specialized gonadal neoplasm|sex cord-gonadal stromal tumor|specialized gonadal neoplasm NOS (morphologic abnormality)|Sex cord-stromal neoplasm|Sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|neoplasm of sex cord|malignant testicular sex cord-stromal tumor|sex cord tumor|specialized gonadal tumor|Sex cord stromal tumour|specialized gonadal neoplasm (morphologic abnormality)|Sex cord-stromal tumor, no ICD-O subtype|tumor of sex cord|specialized gonadal tumor (qualifier value) NCIT:C3794|DOID:192|EFO:0007483|UMLS:C0206724|EFO:1000052|ICDO:8590/1|UMLS:C1515289 owl:Class NCBITaxon:64279 biolink:NamedThing Drosophila C virus tmpte7i6ely_mondo_relaxed.owl DCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:144051 biolink:NamedThing Cripavirus tmpte7i6ely_mondo_relaxed.owl Cricket paralysis-like viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021358 biolink:NamedThing neoplasm of hypopharynx A neoplasm (disease) that involves the hypopharynx. tmpte7i6ely_mondo_relaxed.owl hypopharynx tumor|hypopharyngeal tumor|hypopharynx neoplasm (disease)|neoplasm of the hypopharynx|hypopharyngeal neoplasm|hypopharyngeal neoplasms|tumor of hypopharynx|neoplasm of hypopharynx|tumor of the hypopharynx|hypopharynx neoplasm SCTID:126686005|NCIT:C3127 owl:Class GO:0006282 biolink:NamedThing regulation of DNA repair Any process that modulates the frequency, rate or extent of DNA repair. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001020 biolink:NamedThing regulation of response to DNA damage stimulus Any process that modulates the frequency, rate or extent of response to DNA damage stimulus. tmpte7i6ely_mondo_relaxed.owl regulation of response to genotoxic stress|regulation of cellular DNA damage response|regulation of cellular response to DNA damage stimulus|regulation of DNA damage response owl:Class MONDO:0005320 biolink:NamedThing tibia fracture Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. tmpte7i6ely_mondo_relaxed.owl tibia bone fracture|bone fracture of tibia NCIT:C99083|MESH:D013978|EFO:0003944|SCTID:31978002 owl:Class MONDO:0001767 biolink:NamedThing stenosis of lacrimal punctum tmpte7i6ely_mondo_relaxed.owl ICD10:H04.56|SCTID:74783009|UMLS:C0155244|DOID:13653|ICD9:375.52 owl:Class ECTO:9002146 biolink:NamedThing exposure to acids An exposure to acid. tmpte7i6ely_mondo_relaxed.owl exposure to acid owl:Class ECTO:0000487 biolink:NamedThing exposure to chemical with chemical role An exposure to chemical role. tmpte7i6ely_mondo_relaxed.owl exposure to chemical role owl:Class GO:1902106 biolink:NamedThing negative regulation of leukocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation. tmpte7i6ely_mondo_relaxed.owl negative regulation of immune cell differentiation|down-regulation of leucocyte differentiation|downregulation of leucocyte differentiation|negative regulation of leucocyte differentiation|down regulation of leukocyte differentiation|inhibition of leucocyte differentiation|down regulation of immune cell differentiation|down-regulation of immune cell differentiation|down-regulation of leukocyte differentiation|down regulation of leucocyte differentiation|inhibition of leukocyte differentiation|inhibition of immune cell differentiation|downregulation of leukocyte differentiation|downregulation of immune cell differentiation owl:Class FOODON:00001958 biolink:NamedThing human milk based food product tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03315150 biolink:NamedThing mammalian milk product tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F15150 SIREN DB annotation: * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class MONDO:0016693 biolink:NamedThing subependymal giant cell astrocytoma A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO) tmpte7i6ely_mondo_relaxed.owl subependymal giant cell astrocytic neoplasm|subependymal giant cell astrocytic tumor|subependymal giant cell astrocytoma (morphologic abnormality)|SEGA ICD10:D43.2|UMLS:C0205768|DOID:5077|GARD:0010632|MESH:D001254|Orphanet:251618|SCTID:449799008|ICDO:9384/1|NCIT:C3696 https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma owl:Class MONDO:0007667 biolink:NamedThing subependymoma Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. tmpte7i6ely_mondo_relaxed.owl WHO grade I ependymal tumor|WHO grade I ependymal neoplasm|subependymal astrocytoma|subependymal astrocytoma (formerly)|subependymal glioma|SUBEPENDYMOMA, benign|subependymoma|mixed subependymoma-ependymoma Orphanet:251639|ONCOTREE:SUBE|ICD10:D43.2|MESH:D018315|GARD:0010070|NCIT:C3795|DOID:4843|EFO:1000553|UMLS:C0206725|ICDO:9383/1|EFO:1001197 owl:Class MONDO:0018533 biolink:NamedThing undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated. tmpte7i6ely_mondo_relaxed.owl undifferentiated carcinoma of liver and IBT Orphanet:424970|ICD10:C22.7|ICD10:C22.0|ICD10:C22.1|UMLS:CN242153 owl:Class MONDO:0005617 biolink:NamedThing undifferentiated carcinoma A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. tmpte7i6ely_mondo_relaxed.owl carcinoma, undifferentiated|anaplastic carcinoma|carcinoma, undifferentiated, malignant|undifferentiated carcinoma UMLS:C0205698|NCIT:C3692|EFO:0006772|ICDO:8020/3|ICDO:8021/3 owl:Class MONDO:0007878 biolink:NamedThing congenital laryngomalacia Increased collapsibility of the larynx. tmpte7i6ely_mondo_relaxed.owl laryngomalacia congenital|congenital laryngeal stridor|laryngomalacia MedDRA:10060786|ICD10:Q31.5|OMIM:150280|ICD9:748.3|SCTID:253737007|NCIT:C98971|MESH:D055092|GARD:0006865|Orphanet:2373 owl:Class GO:1905125 biolink:NamedThing positive regulation of glucosylceramidase activity Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity. tmpte7i6ely_mondo_relaxed.owl activation of beta-glucosylceramidase activity|up regulation of beta-glucocerebrosidase activity|activation of beta-D-glucocerebrosidase activity|up regulation of ceramide glucosidase activity|up regulation of psychosine hydrolase activity|positive regulation of GCase activity|activation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-D-glucocerebrosidase activity|upregulation of glucosphingosine glucosylhydrolase activity|up-regulation of glucosylceramidase activity|up-regulation of acid beta-glucosidase activity|activation of psychosine hydrolase activity|activation of acid beta-glucosidase activity|up-regulation of beta-glucosylceramidase activity|upregulation of psychosine hydrolase activity|up-regulation of glucosylsphingosine beta-glucosidase activity|positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|upregulation of beta-glucosylceramidase activity|activation of GlcCer-beta-glucosidase activity|up-regulation of ceramide glucosidase activity|upregulation of glucosylcerebrosidase activity|up regulation of acid beta-glucosidase activity|up-regulation of psychosine hydrolase activity|upregulation of glucosylceramidase activity|up regulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of GlcCer-beta-glucosidase activity|activation of ceramide glucosidase activity|upregulation of glucocerebrosidase activity|positive regulation of GlcCer-beta-glucosidase activity|up-regulation of glucosylsphingosine beta-D-glucosidase activity|up regulation of beta-glucosylceramidase activity|positive regulation of glucosylsphingosine beta-glucosidase activity|up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up regulation of glucosylsphingosine beta-glucosidase activity|positive regulation of beta-glucosylceramidase activity|up regulation of beta-D-glucocerebrosidase activity|up regulation of glucosphingosine glucosylhydrolase activity|upregulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of beta-glucocerebrosidase activity|upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of glucosphingosine glucosylhydrolase activity|positive regulation of ceramide glucosidase activity|activation of glucosylcerebrosidase activity|up regulation of glucosylceramidase activity|positive regulation of psychosine hydrolase activity|up-regulation of beta-glucocerebrosidase activity|upregulation of beta-D-glucocerebrosidase activity|activation of glucocerebrosidase activity|activation of glucosylceramidase activity|activation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of glucosylcerebrosidase activity|positive regulation of acid beta-glucosidase activity|upregulation of acid beta-glucosidase activity|upregulation of glucosylsphingosine beta-glucosidase activity|up regulation of glucocerebrosidase activity|activation of beta-glucocerebrosidase activity|activation of glucosylsphingosine beta-glucosidase activity|positive regulation of glucosylcerebrosidase activity|positive regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of beta-D-glucocerebrosidase activity|positive regulation of glucocerebrosidase activity|up-regulation of glucocerebrosidase activity|upregulation of ceramide glucosidase activity|up-regulation of GlcCer-beta-glucosidase activity|up regulation of GlcCer-beta-glucosidase activity|positive regulation of beta-glucocerebrosidase activity|up-regulation of glucosphingosine glucosylhydrolase activity|activation of glucosphingosine glucosylhydrolase activity|up regulation of glucosylcerebrosidase activity owl:Class GO:1905123 biolink:NamedThing regulation of glucosylceramidase activity Any process that modulates the frequency, rate or extent of glucosylceramidase activity. tmpte7i6ely_mondo_relaxed.owl regulation of beta-glucocerebrosidase activity|regulation of ceramide glucosidase activity|regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|regulation of glucosphingosine glucosylhydrolase activity|regulation of beta-glucosylceramidase activity|regulation of glucosylsphingosine beta-glucosidase activity|regulation of acid beta-glucosidase activity|regulation of beta-D-glucocerebrosidase activity|regulation of psychosine hydrolase activity|regulation of glucosylcerebrosidase activity|regulation of glucosylsphingosine beta-D-glucosidase activity|regulation of GCase activity|regulation of glucocerebrosidase activity|regulation of GlcCer-beta-glucosidase activity owl:Class MONDO:0019020 biolink:NamedThing PANDAS PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. tmpte7i6ely_mondo_relaxed.owl pediatric autoimmune neuropsychiatric disorder associated with Streptococcus|pediatric autoimmune disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections MESH:C537163|UMLS:CN205481|GARD:0007312|Orphanet:66624 owl:Class MONDO:0018234 biolink:NamedThing dysostosis A disorder of the development of bone in which ossification is affected. tmpte7i6ely_mondo_relaxed.owl dysostosis SCTID:109420003|NCIT:C34560|DOID:1934|Orphanet:364559|UMLS:C0013393|MESH:D004413|ICD9:756.9 owl:Class UBERON:0004544 biolink:NamedThing epididymis epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100508 biolink:NamedThing Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. tmpte7i6ely_mondo_relaxed.owl Abnormality of vitamin metabolism UMLS:C4022036 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. doelkens 2010-12-17T06:17:22Z human_phenotype owl:Class HP:0032245 biolink:NamedThing Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. tmpte7i6ely_mondo_relaxed.owl 2019-01-27 12:48:52+00:00 peter human_phenotype owl:Class MONDO:0014701 biolink:NamedThing spondyloepiphyseal dysplasia, Stanescu type tmpte7i6ely_mondo_relaxed.owl SED, Stanescu type|spondyloepiphyseal dysplasia, Stanescu type|SEDSTN UMLS:C4225273|OMIM:616583|ICD10:Q77.7|Orphanet:459051 owl:Class MONDO:0002313 biolink:NamedThing vernal conjunctivitis Inflammation of the cornea that is seasonal in nature. tmpte7i6ely_mondo_relaxed.owl ICD9:372.13|UMLS:C0009773|DOID:2474|ICD10:H10.44|SCTID:318316003|NCIT:C34508 owl:Class HP:0002524 biolink:NamedThing Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:46263000|UMLS:C0007384|MSH:D002385 Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. HP:0002525|HP:0002428 human_phenotype owl:Class MONDO:0003059 biolink:NamedThing bile duct cancer A malignant neoplasm involving the bile duct tmpte7i6ely_mondo_relaxed.owl malignant bile duct neoplasm|bile duct tumor|Ca extrahepatic bile ducts|bile duct cancer|cancer of bile duct|malignant neoplasm of bile duct|malignant neoplasm of the extrahepatic bile duct DOID:4606|ICD10:C24.0|NCIT:C2898|UMLS:C0005396|ICD9:156.1 owl:Class MONDO:0003060 biolink:NamedThing biliary tract cancer A malignant neoplasm involving the biliary tree tmpte7i6ely_mondo_relaxed.owl cancer of biliary tree|malignant neoplasm of biliary tree|malignant tumour of biliary tract|malignant biliary tree neoplasm|biliary tree cancer GARD:0005924|DOID:4607|ICD10:C24.9|ICD9:156.9 https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer owl:Class GO:0015718 biolink:NamedThing monocarboxylic acid transport The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000976 biolink:NamedThing transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. tmpte7i6ely_mondo_relaxed.owl regulatory region DNA binding|transcription regulatory region DNA binding|transcription regulatory region sequence-specific DNA binding owl:Class GO:1990837 biolink:NamedThing sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. tmpte7i6ely_mondo_relaxed.owl sequence-specific dsDNA binding owl:Class MONDO:0014640 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 3 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. tmpte7i6ely_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|FTDALS3|frontotemporal dementia and/or amyotrophic lateral sclerosis 3 DOID:0110068|Orphanet:803|Orphanet:275864|Orphanet:275872|OMIM:616437|UMLS:C4225326 owl:Class NCBITaxon:11652 biolink:NamedThing Primate lentivirus group tmpte7i6ely_mondo_relaxed.owl Primate immunodeficiency viruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011822 biolink:NamedThing dense irregular connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011821 biolink:NamedThing irregular connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006128 biolink:NamedThing central nervous system anaplastic large cell lymphoma An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord. tmpte7i6ely_mondo_relaxed.owl anaplastic large cell lymphoma of CNS|anaplastic central nervous system large cell lymphoma|primary central nervous system anaplastic large cell lymphoma|primary CNS anaplastic large cell lymphoma|anaplastic large cell lymphoma of the CNS|anaplastic CNS large cell lymphoma|anaplastic large cell lymphoma of the central nervous system|central nervous system anaplastic large cell lymphoma|anaplastic large cell lymphoma of central nervous system UMLS:C1335476|EFO:1000156|NCIT:C5322 owl:Class MONDO:0006877 biolink:NamedThing oophoritis Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. tmpte7i6ely_mondo_relaxed.owl inflammation of ovary|ovary inflammation EFO:1001071|MedDRA:10030345|MESH:D009869|UMLS:C0029051|SCTID:76047005|DOID:10974|ICD10:N70.92 owl:Class HGNC:27030 biolink:NamedThing DNAJC21 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001288 biolink:NamedThing Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. tmpte7i6ely_mondo_relaxed.owl Impaired gait|Abnormal gait|Gait disturbances|Gait difficulties|Gait abnormalities|Abnormal walk SNOMEDCT_US:22325002|UMLS:C0575081 If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. HP:0006953 human_phenotype owl:Class HP:0100022 biolink:NamedThing Abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. tmpte7i6ely_mondo_relaxed.owl Abnormality of movement|Movement disorder|Unusual movement SNOMEDCT_US:60342002|UMLS:C0026650|MSH:D009069 Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. doelkens 2010-05-28T11:48:50Z HP:0001294 human_phenotype owl:Class MONDO:0030835 biolink:NamedThing developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy tmpte7i6ely_mondo_relaxed.owl DIGFAN OMIM:619090 owl:Class HGNC:18662 biolink:NamedThing RAX tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3013 biolink:NamedThing DPYS tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051932 biolink:NamedThing synaptic transmission, GABAergic The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpte7i6ely_mondo_relaxed.owl GABAergic synaptic transmission|synaptic transmission, gamma-aminobutyric acid mediated|synaptic transmission, GABA mediated|synaptic transmission, gamma-aminobutyric acid-ergic owl:Class HP:0011461 biolink:NamedThing Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). tmpte7i6ely_mondo_relaxed.owl Foetal onset UMLS:C4023347 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:58:21Z human_phenotype owl:Class HP:0030674 biolink:NamedThing Antenatal onset Onset prior to birth. tmpte7i6ely_mondo_relaxed.owl UMLS:C2673646 human_phenotype owl:Class HGNC:28993 biolink:NamedThing PIEZO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024457 biolink:NamedThing neurodegeneration with brain iron accumulation 2A tmpte7i6ely_mondo_relaxed.owl neuroaxonal dystrophy, infantile|Seitelberger disease|infantile neuroaxonal dystrophy|inaD|infantile neuroaxonal dystrophy 1|Hunter Carpenter Macdonald syndrome|Hunter-Carpenter-McDonald syndrome|PLAN|phospholipase A2-associated neurodegeneration|KARAK syndrome, included|neurodegeneration with brain iron accumulation type 2A|NBIA2A|infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|neurodegeneration, PLA2G6-associated|INAD1|neurodegeneration, Pla2g6-associated|neurodegeneration with brain iron accumulation type 2a|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene|neurodegeneration, Pla2G6-associated|neurodegeneration with brain iron accumulation 2A GARD:0002751|GARD:0003957|DOID:0110735|ICD9:330.8|MESH:C536071|Orphanet:35069|OMIM:256600|NCIT:C84927|SCTID:52713000|ICD10:G23.0|OMIM:610217 AR PLA2G6 https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome owl:Class HGNC:9438 biolink:NamedThing PRKRA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6415 biolink:NamedThing KRT13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024861 biolink:NamedThing mixed teratoma and seminoma tmpte7i6ely_mondo_relaxed.owl mixed teratoma and seminoma NCIT:C9010 owl:Class MONDO:0001594 biolink:NamedThing Achilles bursitis An bursitis involving a pathogenic inflammatory response in the calcaneal tendon. tmpte7i6ely_mondo_relaxed.owl Haglund's deformity|Haglund's disease|capped hock|Achilles bursitis or tendinitis UMLS:C0149846|ICD9:726.71|ICD10:M76.6|DOID:12857 owl:Class MONDO:0007398 biolink:NamedThing craniorhiny tmpte7i6ely_mondo_relaxed.owl craniorhiny MESH:C565144|ICD10:Q30.8|OMIM:123050|UMLS:C1852501|Orphanet:157832 owl:Class MONDO:0014881 biolink:NamedThing transketolase deficiency tmpte7i6ely_mondo_relaxed.owl SDDHD|short stature, developmental delay, and congenital heart defects|short stature-developmental delay-congenital heart defect syndrome|TKT deficiency OMIM:617044|UMLS:C4310751|Orphanet:488618 owl:Class MONDO:0013999 biolink:NamedThing optic nerve edema-splenomegaly syndrome Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. tmpte7i6ely_mondo_relaxed.owl splenomegaly, cytopenia, and vision loss Orphanet:313800|UMLS:C3554278|OMIM:614979 owl:Class GO:0044092 biolink:NamedThing negative regulation of molecular function Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004129 biolink:NamedThing cloacogenic carcinoma An anal carcinoma arising from the transitional zone of the anal canal. tmpte7i6ely_mondo_relaxed.owl cloacogenic anal carcinoma|cloacogenic carcinoma of anus|cloacogenic carcinoma of the anus|anal canal cloacogenic carcinoma|cloacogenic carcinoma (morphologic abnormality)|anal canal cloacogenic cancer|anal cloacogenic carcinoma ICDO:8124/3|DOID:7173|MESH:C563020|NCIT:C8255 owl:Class MONDO:0007108 biolink:NamedThing anal canal carcinoma A carcinoma that arises from epithelial cells of the anal canal tmpte7i6ely_mondo_relaxed.owl anal canal carcinoma|anal canal cancer|anal canal and perianal gland cancer|cloacogenic carcinoma|carcinoma of the anal canal|carcinoma of anal canal|anal canal and perianal gland carcinoma NCIT:C7489|OMIM:105580|Orphanet:424013|SCTID:285310000|DOID:6126 owl:Class MONDO:0010762 biolink:NamedThing lymphoma, Hodgkin, Y-linked pseudoautosomal tmpte7i6ely_mondo_relaxed.owl lymphoma, Hodgkin, Y-linked pseudoautosomal|Hodgkin disease, Y-linked Pseudoautosomal OMIM:400021|MESH:C564034|UMLS:C1839076|Orphanet:391 owl:Class GO:0005977 biolink:NamedThing glycogen metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. tmpte7i6ely_mondo_relaxed.owl glycogen metabolism owl:Class MONDO:0021160 biolink:NamedThing gonococcal cystitis An cystitis caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl Neisseria gonorrhoeae caused cystitis|Neisseria gonorrhoeae cystitis SCTID:197848003|UMLS:C0473230 owl:Class MONDO:0006463 biolink:NamedThing thyroid gland mucoepidermoid carcinoma A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. tmpte7i6ely_mondo_relaxed.owl thyroid gland mucoepidermoid carcinoma|mucoepidermoid thyroid carcinoma|mucoepidermoid thyroid gland carcinoma UMLS:C1513721|EFO:1000590|DOID:4687|NCIT:C38762 owl:Class MONDO:0024622 biolink:NamedThing thyroid gland adenocarcinoma An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). tmpte7i6ely_mondo_relaxed.owl thyroid gland adenocarcinoma|thyroid adenocarcinoma NCIT:C27380|DOID:0080524 owl:Class MONDO:0003305 biolink:NamedThing cellular neurofibroma A neurofibroma characterized by the presence of areas with increased cellularity. tmpte7i6ely_mondo_relaxed.owl cellular neurofibroma DOID:5152|NCIT:C41427|UMLS:C1516371 owl:Class MONDO:0016755 biolink:NamedThing neurofibroma An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. tmpte7i6ely_mondo_relaxed.owl neurofibroma (WHO grade I)|neurofibroma, benign|NFIB|neurofibroma UMLS:C0027830|MESH:D009455|MedDRA:10029267|ICDO:9540/0|ONCOTREE:NFIB|NCIT:C3272|GARD:0007191|Orphanet:252183|EFO:0000622|SCTID:404029005|ICD9:215.9|DOID:962 https://rarediseases.info.nih.gov/diseases/7191/neurofibroma owl:Class MONDO:0032570 biolink:NamedThing Joubert syndrome 35 tmpte7i6ely_mondo_relaxed.owl JOUBERT SYNDROME 35|JBTS35 OMIM:618161 owl:Class MONDO:0018164 biolink:NamedThing arterial thoracic outlet syndrome Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia. tmpte7i6ely_mondo_relaxed.owl arterial hyperabduction syndrome|arterial thoracic outlet compression syndrome|arterial scalenus anticus syndrome|ATOS|arterial cervical rib syndrome|arterial TOS|arterial costoclavicular syndrome SCTID:8051000119105|UMLS:C1956395|Orphanet:357107|ICD10:G54.0 owl:Class MONDO:0005979 biolink:NamedThing thoracic outlet syndrome A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. tmpte7i6ely_mondo_relaxed.owl TOS|thoracic outlet compression syndrome|TOS - thoracic outlet syndrome DOID:3103|SCTID:128210009|UMLS:C0039984|NCIT:C85188|MESH:D013901|EFO:0007507|Orphanet:97330|MedDRA:10048627|ICD10:G54.0|SCTID:2040007 owl:Class MONDO:0005898 biolink:NamedThing paronychia An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. tmpte7i6ely_mondo_relaxed.owl paronychia inflammation|onychia and paronychia of toe|infected nailfold|paronychia (disease)|onychia and paronychia of finger|fungal nail infection|paronychia paronychia (disease) ICD9:681.9|UMLS:C0030578|DOID:13117|SCTID:71906005|EFO:0007421|HP:0001818|MESH:D010304|ICD10:L03.0|NCIT:C79702 owl:Class HGNC:12736 biolink:NamedThing WIPF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3433 biolink:NamedThing ERCC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021360 biolink:NamedThing tumor of parathyroid gland A neoplasm (disease) that involves the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl parathyroid gland neoplasm (disease)|neoplasm of parathyroid gland|parathyroid gland tumor|tumor of parathyroid gland|tumor of the parathyroid gland|tumor of parathyroid|parathyroid gland neoplasm|neoplasm of the parathyroid|parathyroid tumor|neoplasm of the parathyroid gland|neoplasm of parathyroid|tumor of the parathyroid|parathyroid neoplasm SCTID:127020005|ICD9:239.7|NCIT:C3313 owl:Class UBERON:0004122 biolink:NamedThing genitourinary system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005090 biolink:NamedThing schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. tmpte7i6ely_mondo_relaxed.owl SCZD|schizophrenia with or without an affective disorder|schizophrenia (disease)|schizophrenia|schizoaffective disorder|schizophrenia-1 schizophrenia (disease) ICD9:295.80|NCIT:C3362|ICD9:295.9|DOID:5419|ICD9:295.90|EFO:0000692|Orphanet:3140|ICD9:295|HP:0100753|NIFSTD:birnlex_2104|ICD9:295.8|SCTID:58214004|ICD9:295.85|OMIM:181500 owl:Class GO:1900449 biolink:NamedThing regulation of glutamate receptor signaling pathway Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl regulation of glutamate signaling pathway|regulation of glutamate signalling pathway owl:Class MONDO:0005169 biolink:NamedThing neoplasm of mature T-cells or NK-cells A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells. tmpte7i6ely_mondo_relaxed.owl mature T-cell and NK-cell neoplasm|mature T-cell neoplasm|mature T and NK neoplasms NCIT:C27909|UMLS:C1334640|ONCOTREE:MTNN|EFO:0002426 owl:Class HGNC:7460 biolink:NamedThing MT-ND4L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100447 biolink:NamedThing ATF6-related retinopathy A retinopathy caused by biallelic variants in the AFT6 gene. tmpte7i6ely_mondo_relaxed.owl achromatopsia caused by mutation in ATF6|ACHM7|achromatopsia 7|ATF6 achromatopsia|achromatopsia type 7|ATF6 retinopathy owl:Class GO:0009144 biolink:NamedThing purine nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleoside triphosphate metabolism owl:Class GO:0009141 biolink:NamedThing nucleoside triphosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl nucleoside triphosphate metabolism owl:Class GO:0072175 biolink:NamedThing epithelial tube formation The developmental process pertaining to the initial formation of an epithelial tube. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035148 biolink:NamedThing tube formation Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. tmpte7i6ely_mondo_relaxed.owl lumen formation in an anatomical structure|tube lumen formation owl:Class MONDO:0006372 biolink:NamedThing pituicytoma An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido. tmpte7i6ely_mondo_relaxed.owl pituicytoma|pituicytoma (WHO grade I)|PTCY|posterior pituitary astrocytoma Orphanet:251623|NCIT:C94524|ICD10:C71.9|ICDO:9432/1|UMLS:C2986550|ONCOTREE:PTCY|ICD9:237.0|EFO:1000477|SCTID:608817003 owl:Class MONDO:0003257 biolink:NamedThing posterior pituitary gland neoplasm A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. tmpte7i6ely_mondo_relaxed.owl posterior pituitary tumor|neoplasm of neurohypophysis|posterior pituitary neoplasm|Neurohypophysis tumor|Neurohypophysis neoplasm|neurohypophysis neoplasm|neurohypophysis tumor|posterior pituitary gland tumor|tumor of neurohypophysis|posterior pituitary gland neoplasm|neurohypophysis neoplasm (disease)|PITUICYTOMA, benign DOID:5048|NCIT:C7157|UMLS:C1334957 owl:Class MONDO:0019497 biolink:NamedThing nonsyndromic genetic hearing loss A disease characterized by hearing loss that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic hearing loss|isolated genetic deafness|familial deafness|nonsyndromic genetic deafness|nonsyndromic hereditary hearing loss|nonsyndromic deafness|non-syndromic genetic deafness ICD10:H90.5|DOID:0050563|MESH:C580334|Orphanet:87884|EFO:0009076|GARD:0006410|UMLS:CN043648 https://rarediseases.info.nih.gov/diseases/6410/familial-deafness|https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0700041 biolink:NamedThing neuroblastoma, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl NBLST2|neuroblastoma, susceptibility to, type 2|susceptibility to neuroblastoma 2 OMIM:613013 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0008602 biolink:NamedThing triglyceride storage disease, type 2 tmpte7i6ely_mondo_relaxed.owl triglyceride storage disease, type II OMIM:190430|UMLS:C1860820|MESH:C566030 owl:Class MONDO:0000224 biolink:NamedThing acquired carbohydrate metabolism disease An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism. tmpte7i6ely_mondo_relaxed.owl carbohydrate metabolism disease DOID:0050013 owl:Class MONDO:0037792 biolink:NamedThing carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate metabolic process. tmpte7i6ely_mondo_relaxed.owl carbohydrate metabolic process disease|disorder of carbohydrate metabolism|disorder of carbohydrate metabolic process SCTID:20957000 owl:Class MONDO:0009002 biolink:NamedThing coloboma, ocular, autosomal recessive tmpte7i6ely_mondo_relaxed.owl coloboma, ocular, autosomal recessive Orphanet:194|OMIM:216820|UMLS:C4011974 owl:Class MONDO:0000424 biolink:NamedThing inborn vitamin B12 deficiency Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. tmpte7i6ely_mondo_relaxed.owl inborn cobalamin metabolic process disorder|inborn vitamin B12 deficiency (disease)|rare inborn error of cobalamin metabolic process|cobalamin deficiency|inborn error of cobalamin metabolic process|hypocobalaminemia inborn vitamin B12 deficiency (disease) DOID:0050731|EFO:0000734 owl:Class MONDO:0020497 biolink:NamedThing Turcot syndrome with polyposis Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. tmpte7i6ely_mondo_relaxed.owl UMLS:CN207386|Orphanet:99818|OMIM:175100|ICD10:D12.6 owl:Class MONDO:0004705 biolink:NamedThing liver solitary fibrous tumor A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort. tmpte7i6ely_mondo_relaxed.owl fibroma of the liver|hepatic fibroma|liver localized fibrous mesothelioma|fibroma of liver|liver solitary fibrous tumor|liver localized fibrous tumor|liver fibroma UMLS:C1333965|NCIT:C5752|DOID:907 owl:Class MONDO:0012556 biolink:NamedThing DK1-CDG DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. tmpte7i6ely_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type Im|CDG1M|congenital disorder of glycosylation, type Im|Dk1 deficiency|CDG-Im|dolichol kinase deficiency|hypotonia and ichthyosis due to dolichol phosphate deficiency|CDG syndrome type Im|DOLK-CDG (CDG-Im)|CDG Im|congenital disorder of glycosylation type 1m|CDGIm|congenital disorder of glycosylation type Im DOID:0080565|ICD10:E77.8|OMIM:610768|SCTID:718712005|GARD:0012393|MESH:C563666|Orphanet:91131 owl:Class GO:0005743 biolink:NamedThing mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. tmpte7i6ely_mondo_relaxed.owl inner mitochondrial membrane|inner mitochondrion membrane|mitochondrion inner membrane owl:Class GO:0019866 biolink:NamedThing organelle inner membrane The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:140499 biolink:NamedThing kaolinite An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007231 biolink:NamedThing brachytelephalangy-dysmorphism-Kallmann syndrome Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome OMIM:113480|UMLS:C2931421|ICD10:Q87.0|MESH:C537101|Orphanet:1295 owl:Class MONDO:0002186 biolink:NamedThing acute maxillary sinusitis Acute form of maxillary sinusitis. tmpte7i6ely_mondo_relaxed.owl acute antritis|maxillary sinusitis, acute ICD10:J01.0|ICD9:461.0|ICD10:J01.00|DOID:2050|SCTID:68272006|UMLS:C0155804 owl:Class MONDO:0004016 biolink:NamedThing pineal region mature teratoma tmpte7i6ely_mondo_relaxed.owl mature teratoma of pineal region|mature teratoma of pineal area|mature teratoma of the pineal area|mature teratoma of the pineal region|pineal area mature teratoma DOID:6857|NCIT:C6754|UMLS:C1335417 owl:Class MONDO:0004015 biolink:NamedThing pineal region teratoma A mature or immature teratoma that arises in the pineal region. tmpte7i6ely_mondo_relaxed.owl pineal area teratoma|teratoma of pineal region|teratoma of the pineal region|teratoma of the pineal area|teratoma of pineal area DOID:6856|NCIT:C6753|UMLS:C1335419 owl:Class UBERON:0013158 biolink:NamedThing foregut-midgut junction gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003408 biolink:NamedThing gland of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003722 biolink:NamedThing internal auditory canal meningioma A meningioma that affects the internal auditory canal. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of internal acoustic meatus|meningioma of the internal auditory canal|internal acoustic meatus meningioma (disease)|meningioma of internal auditory canal DOID:5990|NCIT:C5307|UMLS:C1334227 owl:Class MONDO:0013552 biolink:NamedThing hereditary spastic paraplegia 52 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene. tmpte7i6ely_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 6|spastic quadriplegic cerebral palsy 6|autosomal recessive spastic paraplegia 52|AP4S1 hereditary spastic paraplegia|CPSQ6|hereditary spastic paraplegia 52|cerebral palsy, spastic quadriplegic, 6, formerly|hereditary spastic paraplegia type 52|hereditary spastic paraplegia caused by mutation in AP4S1|SPG52|spastic paraplegia 52, autosomal recessive OMIM:614067|Orphanet:280763|DOID:0110804|UMLS:C3279743 owl:Class MONDO:0004529 biolink:NamedThing non-ossifying fibromyxoid tumor A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present. tmpte7i6ely_mondo_relaxed.owl nonossifying fibromyxoid tumor|nonossifying fibromyxoid neoplasm|nonossifying fibromyxoma NCIT:C6583|DOID:8305|UMLS:C1335063 owl:Class MONDO:0014635 biolink:NamedThing microphthalmia, isolated, with coloboma 10 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in RBP4|microphthalmia, isolated, with coloboma type 10|microphthalmia, isolated, with coloboma 10|RBP4 microphthalmia, isolated, with coloboma|MCOPCB10 UMLS:C4225330|OMIM:616428|Orphanet:98938 owl:Class MONDO:0000170 biolink:NamedThing microphthalmia, isolated, with coloboma A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. tmpte7i6ely_mondo_relaxed.owl colobomatous microphthalmia|microphthalmia with colobomatous cyst|microphthalmos bilateral, colobomatous orbital cyst|microphthalmia associated with colobomatous cyst|microphthalmia-anophthalmia-coloboma syndrome|MAC|MCOPCB1 OMIM:613703|OMIM:605738|OMIM:251505|OMIM:610092|Orphanet:98938|OMIM:616428|OMIM:601186|MESH:C537463|OMIMPS:300345|OMIM:615145|OMIM:614497|UMLS:CN228419|OMIM:300345|OMIM:611638|GARD:0003644|ICD10:Q11.2 https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst owl:Class UBERON:0035845 biolink:NamedThing enthesis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007329 biolink:NamedThing pancreatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007635 biolink:NamedThing Frasier syndrome Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. tmpte7i6ely_mondo_relaxed.owl Frasier syndrome OMIM:136680|ICD10:N04.1|NCIT:C122805|DOID:0050438|ICD9:759.89|MESH:D052159|Orphanet:347|UMLS:C0950122|GARD:0002375|SCTID:445431000 https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome owl:Class MONDO:0007660 biolink:NamedThing familial ossifying fibroma An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl GIGANTIFORM cementoma, familial|Cementomas, familial multiple|cemental dysplasia, periapical|hereditary ossifying fibroma (disease)|intracortical fibrous dysplasia|multiple ossifying fibroma|Jaffe-Campanacci syndrome OMIM:137575|Orphanet:435329|GARD:0010887|UMLS:CN237560|MESH:C563017|ICD10:D16.4 owl:Class MONDO:0002119 biolink:NamedThing ossifying fibroma A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. tmpte7i6ely_mondo_relaxed.owl Cementifying fibroma|juvenile ossifying fibroma|peripheral ossifying fibroma|fibroma, ossifying, benign|cemento-ossifying fibroma|ossifying fibroma (disease)|ossifying fibroma|fibro-osteoma ossifying fibroma (disease) MESH:D018214|UMLS:C0206640|DOID:180|GARD:0012792|HP:0030426|ICDO:9274/0|EFO:0007412|NCIT:C8422|ICDO:9262/0 owl:Class MONDO:0013177 biolink:NamedThing congenital muscular dystrophy due to integrin alpha-7 deficiency Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, due to ITGA7 deficiency|muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|myopathy, congenital, due to integrin Alpha-7 deficiency|congenital muscular dystrophy with ITGA7 deficiency|congenital myopathy due to integrin alpha-7 deficiency|ITGA7 congenital muscular dystrophy|congenital muscular dystrophy caused by mutation in ITGA7|congenital muscular dystrophy with integrin alpha-7 deficiency DOID:0110639|MESH:C567709|OMIM:613204|UMLS:C2750786|GARD:0012587|Orphanet:34520|ICD10:G71.2 owl:Class MONDO:0013903 biolink:NamedThing nystagmus 7, congenital, autosomal dominant tmpte7i6ely_mondo_relaxed.owl NYSTAGMUS 7, congenital, autosomal dominant|NYS7 OMIM:614826|UMLS:C3553801 owl:Class MONDO:0004690 biolink:NamedThing tonsillar fossa cancer A cancer involving a tonsillar fossa. tmpte7i6ely_mondo_relaxed.owl cancer of tonsillar fossa|malignant tonsillar fossa neoplasm|malignant neoplasm of tonsillar fossa|malignant tumor of tonsillar fossa|tonsillar fossa cancer ICD9:146.1|UMLS:C0153384|ICD10:C09.0|SCTID:363394001|DOID:8969 owl:Class MONDO:0020750 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 tmpte7i6ely_mondo_relaxed.owl OMIM:618193 owl:Class MONDO:0009092 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. tmpte7i6ely_mondo_relaxed.owl brain-bone-fat disease|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|Nasu-Hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly|NHD|presenile dementia with bone cysts|dementia, progressive, with lipomembranous polycystic osteodysplasia|dementia, prefrontal, with bone cysts|PLOSL|PLO-SL|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy OMIMPS:221770|GARD:9921|ICD9:758.89|Orphanet:2770|ICD10:E75.2|SCTID:702347001|GARD:0009921|UMLS:C1857316|DOID:0090112 owl:Class MONDO:0010643 biolink:NamedThing acute leukemia A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). tmpte7i6ely_mondo_relaxed.owl acute leukemia (disease)|stem cell leukemia|acute leukemia|stem cell leukaemia|leukemia, acute, X-linked|stem cell leukemia (disease) ICD9:208.0|SCTID:91855006|MESH:C564112|NCIT:C9300|DOID:12603|ICD10:C95.00|OMIM:308960|ICD9:208.00|EFO:1000068|ICD10:C95.0|HP:0002488|ICDO:9801/3 owl:Class UBERON:0004761 biolink:NamedThing cartilaginous neurocranium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000075 biolink:NamedThing subdivision of skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:60809 biolink:NamedThing adjuvant Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself. tmpte7i6ely_mondo_relaxed.owl adjuvants owl:Class GO:0033044 biolink:NamedThing regulation of chromosome organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. tmpte7i6ely_mondo_relaxed.owl regulation of chromosome organisation|regulation of chromosome organization and biogenesis owl:Class NCBITaxon:317865 biolink:NamedThing Rickettsia conorii subsp. indica tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:15766388 ncbi_taxonomy owl:Class UBERON:0002037 biolink:NamedThing cerebellum tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23503 biolink:NamedThing SLITRK6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003460 biolink:NamedThing arm bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044738 biolink:NamedThing Gabriele de Vries syndrome tmpte7i6ely_mondo_relaxed.owl YY1 haploinsufficiency syndrome|Gabriele-de Vries syndrome|Gabriele-De Vries syndrome|GADEVS Orphanet:506358|OMIM:617557|UMLS:C4479652 owl:Class NCBITaxon:46919 biolink:NamedThing Whitewater Arroyo mammarenavirus tmpte7i6ely_mondo_relaxed.owl Whitewater Arroyo virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005770 biolink:NamedThing genital herpes Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. tmpte7i6ely_mondo_relaxed.owl herpes genitalia|venereal herpes|genital herpes simplex|herpes genitalis|virus-genital herpes EFO:0007282|SCTID:33839006|ICD9:054.1|ICD9:054.10|NCIT:C14364|MESH:D006558|DOID:8704|UMLS:C0019342|ICD9:054.19 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0004609 biolink:NamedThing herpes simplex infectious disease A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) tmpte7i6ely_mondo_relaxed.owl herpes simplex complex|Herpesvirus hominis disease|herpes simplex|Simplexvirus caused disease or disorder|herpes simplex infection|Simplexvirus disease or disorder|herpes simplex viral infection|Simplexvirus infectious disease ICD9:058.89|EFO:1002022|SCTID:88594005|ICD9:054|DOID:8566|ICD10:B00.9|ICD10:B00|UMLS:C0019348|MESH:D006561 owl:Class UBERON:0001787 biolink:NamedThing photoreceptor layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001781 biolink:NamedThing layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001241 biolink:NamedThing physical object quality A quality which inheres in a continuant. tmpte7i6ely_mondo_relaxed.owl quality of a single physical entity|monadic quality of a continuant|quality of a continuant|monadic quality of continuant|monadic quality of an object|quality of an object|quality of continuant|multiply inhering quality of a physical entity owl:Class MONDO:0004804 biolink:NamedThing dacryoadenitis Inflammation and enlargement of the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl inflammation of lacrimal gland|lacrimal gland inflammation DOID:950|ICD10:H04.00|NCIT:C26971|SCTID:86927009|ICD9:375.00|UMLS:C0155223|MESH:D003607|ICD10:H04.0|ICD9:375.0 owl:Class MONDO:0024625 biolink:NamedThing disorder of lacrimal gland A disease that involves the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl disease or disorder of lacrimal gland|disease of lacrimal gland|disorder of lacrimal gland|lacrimal gland disease or disorder|lacrimal gland disease SCTID:95766002|UMLS:C0235228 owl:Class MONDO:0025354 biolink:NamedThing spermatogenic failure, X-linked, 3 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure, X-linked, 3|SPGFX3 OMIM:301059 owl:Class UBERON:0002497 biolink:NamedThing acromion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004530 biolink:NamedThing bony projection tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904747 biolink:NamedThing positive regulation of apoptotic process involved in development Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. tmpte7i6ely_mondo_relaxed.owl up-regulation of activation of apoptosis involved in anatomical structure development|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of induction of apoptosis involved in anatomical structure development|up-regulation of apoptotic process involved in anatomical structure development|up-regulation of apoptosis involved in development of an anatomical structure|upregulation of commitment to apoptosis involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis involved in development of an anatomical structure|up regulation of type I programmed cell death involved in anatomical structure development|upregulation of induction of apoptosis involved in anatomical structure development|up regulation of activation of apoptosis involved in anatomical structure development|activation of apoptosis signaling involved in development of an anatomical structure|upregulation of apoptosis involved in development of an anatomical structure|upregulation of type I programmed cell death involved in anatomical structure development|positive regulation of type I programmed cell death involved in development of an anatomical structure|activation of apoptotic process involved in development of an anatomical structure|upregulation of apoptosis activator activity involved in anatomical structure development|activation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of activation of apoptosis involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of apoptosis involved in anatomical structure development|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of apoptotic process involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of apoptotic cell death involved in anatomical structure development|up regulation of induction of apoptosis involved in anatomical structure development|up regulation of apoptotic process involved in development|up regulation of apoptotic program involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|up regulation of apoptotic process involved in development of an anatomical structure|upregulation of apoptotic cell death involved in development of an anatomical structure|up regulation of programmed cell death by apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in anatomical structure development|positive regulation of induction of apoptosis involved in anatomical structure development|positive regulation of apoptotic process involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of apoptotic process involved in development of an anatomical structure|activation of apoptotic program involved in anatomical structure development|upregulation of apoptotic program involved in anatomical structure development|up-regulation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|up regulation of apoptotic cell death involved in development of an anatomical structure|activation of apoptosis activator activity involved in development of an anatomical structure|upregulation of apoptosis signaling involved in anatomical structure development|positive regulation of apoptotic cell death involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptosis signaling involved in development of an anatomical structure|upregulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of apoptosis involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|activation of type I programmed cell death involved in anatomical structure development|up regulation of apoptosis activator activity involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of apoptotic cell death involved in anatomical structure development|positive regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptotic process involved in development|up-regulation of apoptotic program involved in development of an anatomical structure|upregulation of activation of apoptosis involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of commitment to apoptosis involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in anatomical structure development|positive regulation of commitment to apoptosis involved in development of an anatomical structure|activation of apoptosis signaling involved in anatomical structure development|up regulation of apoptotic program involved in anatomical structure development|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in anatomical structure development|up regulation of apoptosis activator activity involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|activation of apoptotic process involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in anatomical structure development|activation of activation of apoptosis involved in anatomical structure development|activation of commitment to apoptosis involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of apoptotic process involved in development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|up-regulation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|activation of apoptotic cell death involved in development of an anatomical structure|activation of induction of apoptosis involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of induction of apoptosis involved in development of an anatomical structure|up regulation of activation of apoptosis involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of apoptotic program involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|positive regulation of induction of apoptosis involved in development of an anatomical structure|activation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptosis signaling involved in development of an anatomical structure|up regulation of apoptotic process involved in anatomical structure development|upregulation of type I programmed cell death involved in development of an anatomical structure|up regulation of type I programmed cell death involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic program involved in development of an anatomical structure|positive regulation of apoptosis signaling involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|up regulation of apoptosis signaling involved in anatomical structure development|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in development of an anatomical structure|upregulation of apoptotic process involved in development|up regulation of apoptosis involved in anatomical structure development|positive regulation of apoptosis involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|upregulation of activation of apoptosis involved in anatomical structure development|upregulation of apoptosis involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|positive regulation of commitment to apoptosis involved in anatomical structure development|activation of apoptotic programmed cell death involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in anatomical structure development owl:Class UBERON:0002427 biolink:NamedThing arm skin tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:4000001 biolink:NamedThing exposure to increased temperature A exposure event involving the interaction of an exposure receptor to increased temperature. tmpte7i6ely_mondo_relaxed.owl increased temperature exposure owl:Class ECTO:0010001 biolink:NamedThing exposure to qualitative environmental quality A exposure event involving the interaction of an exposure receptor to qualitative. tmpte7i6ely_mondo_relaxed.owl qualitative exposure owl:Class GO:0008047 biolink:NamedThing enzyme activator activity Binds to and increases the activity of an enzyme. tmpte7i6ely_mondo_relaxed.owl metalloenzyme activator activity owl:Class MONDO:0012949 biolink:NamedThing aneurysm, intracranial berry, 9 tmpte7i6ely_mondo_relaxed.owl ANIB9|aneurysm, intracranial BERRY, 9 MESH:C567238|OMIM:612586|UMLS:C2675485 owl:Class MONDO:0016483 biolink:NamedThing intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. tmpte7i6ely_mondo_relaxed.owl saccular cerebral aneurysm|familial intracranial saccular aneurysm|familial berry aneurysm|familial cerebral saccular aneurysm|aneurysm, intracranial berry|familial aneurysmal subarachnoid hemorrhage OMIM:612161|OMIMPS:105800|UMLS:CN230268|ICD10:I60.7|OMIM:105800|DOID:0060228|OMIM:610213|OMIM:609122|OMIM:614252|OMIM:608542|Orphanet:231160|OMIM:612587|ICD10:I67.1|HP:0007029|SCTID:703226008|OMIM:611892|OMIM:612586|OMIM:612162|OMIM:300870 owl:Class MONDO:0004725 biolink:NamedThing rectum carcinoma in situ A in situ carcinoma that involves the rectum. tmpte7i6ely_mondo_relaxed.owl severe rectal dysplasia|stage 0 rectal carcinoma|marked rectal dysplasia|stage 0 rectal cancer aJCC v6 and v7|rectum in situ carcinoma|stage 0 rectal cancer aJCC v6|stage 0 rectal cancer|carcinoma in situ of rectum|rectal carcinoma in situ|stage 0 rectum carcinoma|carcinoma in situ of the rectum|stage 0 rectal cancer aJCC v7|severe dysplasia of the rectum|marked dysplasia of the rectum|marked dysplasia of rectum|stage 0 carcinoma of rectum|severe dysplasia of rectum|stage 0 carcinoma of the rectum ICD9:230.4|ICD10:D01.2|SCTID:308879003|UMLS:C0154062|DOID:9174|NCIT:C4853 owl:Class UBERON:0016514 biolink:NamedThing cavity of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001305 biolink:NamedThing ovarian follicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030436 biolink:NamedThing anemia, sideroblastic, 5 tmpte7i6ely_mondo_relaxed.owl SIDBA5 OMIM:619523 owl:Class MONDO:0020099 biolink:NamedThing inherited sideroblastic anemia tmpte7i6ely_mondo_relaxed.owl constitutional sideroblastic anemia ICD10:D64.0|OMIMPS:300751|Orphanet:98362 We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. https://github.com/monarch-initiative/mondo/pull/2076 owl:Class MONDO:0017198 biolink:NamedThing osteopetrosis Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. tmpte7i6ely_mondo_relaxed.owl Albers-Schoenberg disease|Albers-Schonberg disease|osteopetrosis and related disorders|osteosclerosis fragilis|marble bone disease|osteopetrosis (disease)|marble bones|osteopetroses|osteopetrosis|marble bone osteopetrosis (disease) SCTID:1926006|Orphanet:2781|NCIT:C26840|SCTID:367489004|HP:0011002|MedDRA:10031280|GARD:0004155|ICD9:756.52|DOID:13533|Orphanet:667|ICD10:Q78.2 owl:Class MONDO:0042973 biolink:NamedThing familial osteosclerosis An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary osteosclerosis GARD:0004174 owl:Class MONDO:0010808 biolink:NamedThing fatal familial insomnia Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. tmpte7i6ely_mondo_relaxed.owl FFI|familial fatal insomnia|Insomnia, fatal familial|fatal familial insomnia|Insomnia familial fatal|fatal familial INSOMNIA MESH:D034062|ICD10:A81.8|MedDRA:10072077|UMLS:C0206042|ICD10:A81.83|ICD9:046.72|SCTID:83157008|GARD:0006429|OMIM:600072|DOID:0050433|Orphanet:466|NCIT:C84711 https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia owl:Class MONDO:0013600 biolink:NamedThing insomnia A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep. tmpte7i6ely_mondo_relaxed.owl delayed sleep phase syndrome, susceptibility to|DSPS|insomnia|delayed sleep phase disorder, susceptibility to|DSPD|insomnia (disease) insomnia (disease) UMLS:C0393770|HP:0100785|EFO:0004698|SCTID:193462001|ICD10:G47.0|ICD9:780.52|MESH:D007319|NCIT:C28286 owl:Class GO:0009308 biolink:NamedThing amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpte7i6ely_mondo_relaxed.owl amine metabolism owl:Class MONDO:0006117 biolink:NamedThing breast diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma. tmpte7i6ely_mondo_relaxed.owl breast DLBCL|breast diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of breast EFO:1000144|UMLS:C1511306|NCIT:C40375 owl:Class MONDO:0003661 biolink:NamedThing breast lymphoma A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare. tmpte7i6ely_mondo_relaxed.owl breast lymphoma|lymphoma of the breast|malignant lymphoma of breast|lymphoma of breast|primary breast lymphoma DOID:5826|UMLS:C1704251|UMLS:C0349669|NCIT:C4671|SCTID:278052009 owl:Class MONDO:0007867 biolink:NamedThing nonsyndromic congenital nail disorder 2 tmpte7i6ely_mondo_relaxed.owl congenital koilonychia|NDNC2|familial koilonychia|nail disorder, nonsyndromic congenital, 2|hereditary koilonychia|spoon nails|Koilonychia with leukonychia|nonsyndromic congenital nail disorder type 2|Koilonychia, hereditary DOID:0080080|GARD:0009760|OMIM:149300|ICD9:703.8|MESH:C537260|SCTID:66270006 owl:Class HGNC:18084 biolink:NamedThing TRPV3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000833 biolink:NamedThing positive regulation of steroid hormone secretion Any process that activates or increases the frequency, rate or extent of steroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002326 biolink:NamedThing alcohol-induced mental disorder tmpte7i6ely_mondo_relaxed.owl ICD9:291.8|DOID:251|ICD9:291.89 owl:Class MONDO:0040922 biolink:NamedThing latent early syphilis tmpte7i6ely_mondo_relaxed.owl latent early syphilis UMLS:C0275842|SCTID:186867005 owl:Class MONDO:0005822 biolink:NamedThing latent syphilis A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. tmpte7i6ely_mondo_relaxed.owl ICD10:A53.0|MESH:D013592|DOID:9531|EFO:0007340|UMLS:C0039133|SCTID:444150000|NCIT:C35056|ICD9:097.1 owl:Class CL:0000980 biolink:NamedThing plasmablast An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. tmpte7i6ely_mondo_relaxed.owl CD20-negative B cell|CD27-positive, CD38-positive, CD20-negative B cell FMA:84371 This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. cell owl:Class CL:0000785 biolink:NamedThing mature B cell A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. tmpte7i6ely_mondo_relaxed.owl mature B-lymphocyte|mature B lymphocyte|mature B-cell Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class HGNC:11183 biolink:NamedThing SON tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003546 biolink:NamedThing third cranial nerve disorder A disease involving the oculomotor nerve. tmpte7i6ely_mondo_relaxed.owl disease of oculomotor nerve|oculomotor nerve disease|oculomotor nerve disease or disorder|oculomotor nerve disorder|disease or disorder of oculomotor nerve|disorder of oculomotor nerve UMLS:C0271353|MESH:D015840|SCTID:60750009|NCIT:C27598|DOID:562 owl:Class MONDO:0008161 biolink:NamedThing otodental syndrome Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl otodental syndrome|globodontia|oculootodental syndrome|chromosome 11q13 deletion syndrome|otodental syndrome with coloboma|otodental dysplasia OMIM:166750|ICD10:K00.2|Orphanet:2791|Orphanet:99806|UMLS:C1833693|SCTID:707310009|UMLS:C2750325|GARD:0004168 owl:Class GO:0045137 biolink:NamedThing development of primary sexual characteristics The process whose specific outcome is the progression of the primary sexual characteristics over time, from their formation to the mature structures. The primary sexual characteristics are the testes in males and the ovaries in females and they develop in response to sex hormone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003006 biolink:NamedThing developmental process involved in reproduction A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring. tmpte7i6ely_mondo_relaxed.owl reproductive developmental process|puberty owl:Class MONDO:0009318 biolink:NamedThing Hallermann-Streiff syndrome Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. tmpte7i6ely_mondo_relaxed.owl Hallerman - Streiff syndrome|HSS|Francois dyscephalic syndrome|Hallermann's syndrome|FranC'ois dyscephalic syndrome|François dyscephalic syndrome|Hallermann Streiff Francois syndrome|Hallermann syndrome|Hallermann-Streiff syndrome|Hallermann Streiff syndrome|oculomandibulofacial syndrome UMLS:C0018522|GARD:0000288|ICD10:Q87.0|NCIT:C84746|OMIM:234100|DOID:4534|MESH:D006210|SCTID:7903009|Orphanet:2108 https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome owl:Class MONDO:0004847 biolink:NamedThing senile cataract A cataract with no obvious cause occurring in persons over 50 years old. tmpte7i6ely_mondo_relaxed.owl SCTID:39450006|ICD10:H25|DOID:9669|ICD9:366.10|NCIT:C35012|ICD9:366.1 owl:Class GO:0006665 biolink:NamedThing sphingolipid metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpte7i6ely_mondo_relaxed.owl sphingolipid metabolism owl:Class MONDO:0019463 biolink:NamedThing non-amyloid monoclonal immunoglobulin deposition disease tmpte7i6ely_mondo_relaxed.owl non-amyloid MIDD|Randall disease Orphanet:86861|UMLS:CN206242|ICD10:D89.8 owl:Class MONDO:0016518 biolink:NamedThing isolated punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated punctate PPK|nonsyndromic punctate palmoplantar keratoderma|isolated punctate palmoplantar hyperkeratosis ICD10:Q82.8|Orphanet:2338 owl:Class MONDO:0017675 biolink:NamedThing punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. tmpte7i6ely_mondo_relaxed.owl punctate PPK|punctate palmoplantar hyperkeratosis|punctate keratosis palmoplantaris Orphanet:307967|ICD10:Q82.8|SCTID:402773000|DOID:0060361|UMLS:C4024851 owl:Class MONDO:0007661 biolink:NamedThing Tourette syndrome A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. tmpte7i6ely_mondo_relaxed.owl Tourette disease|Gilles de la Tourette syndrome|motor-verbal tic disorder|Tourette syndrome|Guinon's disease|psychogenic tics|chronic motor tics|GTS|Tourette disorder|Tourette's syndrome|Gilles De 50A Tourette syndrome ICD9:307.23|NCIT:C35078|Orphanet:856|MESH:D005879|DOID:11119|ICD10:F95.2|OMIM:137580|GARD:0007783|SCTID:5158005|EFO:0004895 owl:Class GO:0050768 biolink:NamedThing negative regulation of neurogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpte7i6ely_mondo_relaxed.owl downregulation of neurogenesis|down regulation of neurogenesis|inhibition of neurogenesis|down-regulation of neurogenesis owl:Class UBERON:0005288 biolink:NamedThing tela choroidea of third ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005283 biolink:NamedThing tela choroidea tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35508 biolink:NamedThing steroid fundamental parent tmpte7i6ely_mondo_relaxed.owl steroid fundamental parents owl:Class MONDO:0016918 biolink:NamedThing partial deletion of the long arm of chromosome 20 tmpte7i6ely_mondo_relaxed.owl partial monosomy of the long arm of chromosome 20|partial deletion of chromosome 20q|partial monosomy of chromosome 20q|partial deletion of the long arm of chromosome type 20 ICD10:Q93.5|Orphanet:262164 owl:Class MONDO:0011787 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|FKRP autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|limb-girdle muscular dystrophy due to FKRP deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|LGMD-FKRP related|LGMD2I|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5|muscular dystrophy, limb-girdle, type 2I|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|MDDGC5|muscular dystrophy limb-girdle type 2I|limb-girdle muscular dystrophy type 2I ICD10:G71.0|DOID:0110299|Orphanet:34515|SCTID:718180000|MESH:C564612|OMIM:607155|GARD:0012533|NCIT:C126739 owl:Class MONDO:0008713 biolink:NamedThing acrodermatitis enteropathica Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. tmpte7i6ely_mondo_relaxed.owl acrodermatitis enteropathica, zinc deficiency type|AEZ|acrodermatitis enteropathica zinc deficiency type|ae|acrodermatitis enteropathica, zinc-deficiency type|enteropathica|Danbolt-Cross syndrome|Brandt syndrome|acrodermatitis enteropathica|inherited zinc deficiency ICD9:686.8|Orphanet:37|MESH:C538178|GARD:0005723|SCTID:37702000|NCIT:C128802|UMLS:C0221036|ICD10:E83.2|OMIM:201100|DOID:0050605|GARD:0006343 MONDO:0023070 https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica|https://rarediseases.info.nih.gov/diseases/6343/enteropathica owl:Class MONDO:0015180 biolink:NamedThing intestinal disease due to fat malabsorption tmpte7i6ely_mondo_relaxed.owl Orphanet:104005|UMLS:CN197522 owl:Class GO:1904411 biolink:NamedThing positive regulation of secretory granule organization Any process that activates or increases the frequency, rate or extent of secretory granule organization. tmpte7i6ely_mondo_relaxed.owl activation of secretory granule organization and biogenesis|positive regulation of secretory granule organisation|activation of secretory granule organisation|up regulation of secretory granule organization and biogenesis|up-regulation of secretory granule organisation|up-regulation of secretory granule organization and biogenesis|upregulation of secretory granule organisation|up regulation of secretory granule organization|activation of secretory granule organization|up-regulation of secretory granule organization|upregulation of secretory granule organization|up regulation of secretory granule organisation|positive regulation of secretory granule organization and biogenesis|upregulation of secretory granule organization and biogenesis owl:Class MONDO:0005508 biolink:NamedThing hereditary multiple osteochondromas A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. tmpte7i6ely_mondo_relaxed.owl multiple exostoses|hereditary multiple exostoses 2|exostoses, multiple|multiple exostosis syndromes|HMO|hereditary multiple exostosis|osteochondromatosis syndrome|hereditary multiple exostoses|hereditary multiple exostoses 3|hereditary multiple exostoses 1|EXT|multiple congenital exostosis|osteochondromatosis syndrome (disorder) [ambiguous]|multiple cartilaginous exostoses|Bessel-Hagen disease|multiple ostechondromas OMIM:133700|MESH:D005097|DOID:206|SCTID:254044004|NCIT:C5183|EFO:0005560|OMIM:133701|ICD10:Q78.6|UMLS:CN204014|Orphanet:321|OMIM:600209|GARD:0007035|SCTID:716742001|UMLS:C0206641 https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas owl:Class MONDO:0020212 biolink:NamedThing superficial corneal dystrophy The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpte7i6ely_mondo_relaxed.owl corneal epithelium corneal dystrophy (disease)|dystrophy of anterior cornea|anterior corneal dystrophy SCTID:430888006|UMLS:C2315777|ICD10:H18.5|Orphanet:98625|ICD9:371.52 owl:Class CL:1000549 biolink:NamedThing kidney cortex collecting duct epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001063 cell owl:Class CL:1000497 biolink:NamedThing kidney cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001010 cell owl:Class MONDO:0004278 biolink:NamedThing infiltrating bladder urothelial carcinoma sarcomatoid variant An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features. tmpte7i6ely_mondo_relaxed.owl sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553|UMLS:C1512744|UMLS:C1512745|EFO:1000303|UMLS:C1512743|NCIT:C39824|ONCOTREE:SCB owl:Class MONDO:0002837 biolink:NamedThing sarcomatoid transitional cell carcinoma A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. tmpte7i6ely_mondo_relaxed.owl transitional spindle cell carcinoma|transitional cell spindle cell carcinoma|sarcomatoid transitional cell carcinoma|transitional cell carcinoma, sarcomatoid ICDO:8122/3|DOID:4014|UMLS:C0334271|NCIT:C4120 owl:Class MONDO:0001387 biolink:NamedThing penile sarcoma A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of penis|penile sarcoma|penis sarcoma|sarcoma of the penis UMLS:C0238352|DOID:11838|NCIT:C7730 owl:Class HP:0000359 biolink:NamedThing Abnormality of the inner ear An abnormality of the inner ear. tmpte7i6ely_mondo_relaxed.owl Abnormality of the inner ear|Inner ear abnormality UMLS:C4021809 human_phenotype owl:Class MONDO:0025370 biolink:NamedThing urogenital neoplasm Tumors or cancer of the urogenital system in either the male or the female. tmpte7i6ely_mondo_relaxed.owl genito-urinary neoplasm|neoplasm, genitourinary|neoplasms, genitourinary|neoplasms, genito-urinary|genitourinary system neoplasm|genito-urinary neoplasms|genitourinary neoplasms|neoplasm of genitourinary system|neoplasms, urogenital|genitourinary neoplasm|urogenital neoplasm|neoplasm, genito-urinary|neoplasm, urogenital|genitourinary system tumor|tumor of genitourinary system MESH:D014565|EFO:0003863 owl:Class NCBITaxon:29122 biolink:NamedThing Oryzomys tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032937 biolink:NamedThing myopathy, congenital proximal, with minicore lesions tmpte7i6ely_mondo_relaxed.owl MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS|MYOPMIL OMIM:618823 owl:Class MONDO:0002050 biolink:NamedThing depressive disorder A melancholy feeling of sadness and despair. tmpte7i6ely_mondo_relaxed.owl syndrome, depressive|depression|melancholia|syndromes, depressive|mental depression|melancholias SCTID:35489007|ICD10:F33.9|MESH:D003866|MFOMD:0000013|NCIT:C2982|UMLS:CN236658|ICD10:F32.9|ICD9:311|DOID:1596|ICD10:F32 owl:Class GO:0008206 biolink:NamedThing bile acid metabolic process The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. tmpte7i6ely_mondo_relaxed.owl bile acid metabolism owl:Class MONDO:0019685 biolink:NamedThing FGFR3-related chondrodysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93420 owl:Class GO:0002708 biolink:NamedThing positive regulation of lymphocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl activation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity|up-regulation of lymphocyte mediated immunity|stimulation of lymphocyte mediated immunity owl:Class GO:0002705 biolink:NamedThing positive regulation of leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl up-regulation of leukocyte mediated immunity|positive regulation of leucocyte mediated immunity|up regulation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity|upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|activation of leukocyte mediated immunity owl:Class GO:0140244 biolink:NamedThing regulation of translation at presynapse Any process that regulates translation occurring at the presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:140693 biolink:NamedThing Pulicomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7509 biolink:NamedThing Siphonaptera tmpte7i6ely_mondo_relaxed.owl fleas GC_ID:1 NCBITaxon:27416|NCBITaxon:7510 ncbi_taxonomy owl:Class MONDO:0009411 biolink:NamedThing autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. tmpte7i6ely_mondo_relaxed.owl MEDAC syndrome|Whitaker syndrom|autoimmune polyglandular syndrome I|autoimmune polyendocrinopathy caused by mutation in aire|autoimmune polyglandular syndrome, type 1|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|APS 1|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|APS type 1|autoimmune polyendocrine syndrome type 1|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|ham syndrome|APECED syndrome|multiple endocrine deficiency-Addison disease-candidiasis syndrome|autoimmune polyendocrinopathy type 1|APS1|polyglandular deficiency syndrome, Persian-Jewish type|Whitaker syndrome|autoimmune polyglandular syndrome type 1|autoimmune polyendocrinopathy syndrome type 1|polyglandular autoimmune syndrome, type 1|polyglandular autoimmune syndrome type 1|PGA 1|autoimmune polyendocrinopathy caused by mutation in AIRE|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|aire autoimmune polyendocrinopathy|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|AIRE autoimmune polyendocrinopathy DOID:0050167|Orphanet:3453|GARD:0008466|GARD:0005558|SCTID:11244009|UMLS:C0085859|ICD9:258.8|OMIM:240300|NCIT:C129727|ICD10:E31.0 owl:Class CL:2000076 biolink:NamedThing hindlimb stylopod vein endothelial cell Any vein endothelial cell that is part of a hindlimb stylopod. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T18:40:47Z cell owl:Class CL:0002543 biolink:NamedThing vein endothelial cell An endothelial cell that is part of the vein. tmpte7i6ely_mondo_relaxed.owl venous endothelial cell|endothelial cell of vein KUPO:0001099|FMA:62104 tmeehan 2011-02-28T03:48:11Z CL:1000393 cell owl:Class CL:0002370 biolink:NamedThing respiratory goblet cell A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion. tmpte7i6ely_mondo_relaxed.owl respiratory mucosa goblet cells tmeehan 2010-09-23T04:42:27Z cell owl:Class MONDO:0000262 biolink:NamedThing otomycosis Fungus infection of the external ear, usually by aspergillus species tmpte7i6ely_mondo_relaxed.owl external ear fungal infectious disease|otitis mycotic externa|Singapore ear UMLS:C0029895|SCTID:53316003|DOID:0050147|MESH:D059249|ICD9:111.8 owl:Class MONDO:0016017 biolink:NamedThing methimazole embryofetopathy Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. tmpte7i6ely_mondo_relaxed.owl MMI/CMZ embryopathy|Methimazole antenatal exposure|fetal methimazole syndrome|Methimazole/carbimazole embryofetopathy|Methimazole/carbimazole embryopathy|methimazole embryofetopathy|MMI/CMZ embryofetopathy SCTID:724144006|UMLS:C4510379|Orphanet:1923|GARD:0003573|ICD10:Q86.8 https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure owl:Class GO:0043244 biolink:NamedThing regulation of protein-containing complex disassembly Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpte7i6ely_mondo_relaxed.owl regulation of protein complex disassembly owl:Class MONDO:0700037 biolink:NamedThing testicular fibrothecoma A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0700036 biolink:NamedThing fibrothecoma A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:26031 biolink:NamedThing PIGV tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010013 biolink:NamedThing schneckenbecken dysplasia Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. tmpte7i6ely_mondo_relaxed.owl schneckenbecken dysplasia|chondrodysplasia with snail-like pelvis|SLC35D1-CDG|chondrodysplasia, lethal neonatal, with snail-like pelvis|chondrodysplasia lethal neonatal with snail like pelvis|SHNKND OMIM:269250|ICD9:756.9|GARD:0000169|ICD10:Q77.7|Orphanet:3144|SCTID:254049009|DOID:0050775|UMLS:C0432194|MESH:C536637 https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia owl:Class SO:0001217 biolink:NamedThing protein_coding_gene A gene that codes for an RNA that can be translated into a protein. tmpte7i6ely_mondo_relaxed.owl protein coding gene owl:Class GO:0046952 biolink:NamedThing ketone body catabolic process The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA. tmpte7i6ely_mondo_relaxed.owl ketone body catabolism|ketolysis|ketone body breakdown|ketone body degradation|utilization of ketone bodies owl:Class GO:1903026 biolink:NamedThing negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpte7i6ely_mondo_relaxed.owl down-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|downregulation of RNA polymerase II regulatory region sequence-specific DNA binding|inhibition of RNA polymerase II regulatory region sequence-specific DNA binding|down regulation of RNA polymerase II regulatory region sequence-specific DNA binding owl:Class MONDO:0003370 biolink:NamedThing retroperitoneal leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of retroperitoneal space|retroperitoneal space leiomyosarcoma|retroperitoneal leiomyosarcoma UMLS:C2187547|DOID:5284|NCIT:C27904 owl:Class UBERON:0007303 biolink:NamedThing pharyngeal vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008053 biolink:NamedThing myopia 2, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 2, autosomal dominant|MYP2 UMLS:C1834531|MESH:C563541|OMIM:160700 owl:Class GO:1904363 biolink:NamedThing negative regulation of calcitonin secretion Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion. tmpte7i6ely_mondo_relaxed.owl downregulation of calcitonin secretion|inhibition of calcitonin secretion|down-regulation of calcitonin secretion|down regulation of calcitonin secretion owl:Class GO:0090278 biolink:NamedThing negative regulation of peptide hormone secretion Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004335 biolink:NamedThing digestive system disorder A disease or disorder that involves the digestive system. tmpte7i6ely_mondo_relaxed.owl disease of digestive system|disorder of digestive system|gastroenterological system disease|gastrointestinal disease|digestive system disorder|alimentary system disease|gastrointestinal system disorder|digestive system disease|gastroenterological system disorder|disease or disorder of digestive system|gastroenteropathy|digestive system disease or disorder|digestive disease|git disease|gastrointestinal disorder|gastrointestinal system disease|stomach or intestinal disorder NCIT:C2990|DOID:77|ICD9:520-579.99|ICD10:K92.9|SCTID:53619000|ICD9:V47.3|MESH:D005767|EFO:0000405 owl:Class MONDO:0008244 biolink:NamedThing piebaldism Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. tmpte7i6ely_mondo_relaxed.owl piebaldism|PBT|partial albinism|piebald trait DOID:3263|Orphanet:2884|ICD10:E70.39|OMIM:172800|ICD9:270.2|ICD10:E70.3|GARD:0004344|UMLS:C0080024|SCTID:6479008|NCIT:C85009|MESH:D016116 https://rarediseases.info.nih.gov/diseases/4344/piebaldism owl:Class MONDO:0018771 biolink:NamedThing congenital anomaly of ventricular septum A congenital heart malformation that involves the interventricular septum. tmpte7i6ely_mondo_relaxed.owl congenital heart malformation of interventricular septum|congenital ventricular septal anomaly|rare congenital anomaly of ventricular septum|congenital anomaly of interventricular communication|interventricular septum congenital heart malformation Orphanet:474347 owl:Class GO:0044848 biolink:NamedThing biological phase A distinct period or stage in a biological process or cycle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013788 biolink:NamedThing Usher syndrome type 3B Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene. tmpte7i6ely_mondo_relaxed.owl Usher syndrome caused by mutation in HARS|HARS Usher syndrome|USHER syndrome, type IIIB|USH3B|Usher syndrome type IIIB|Usher syndrome, type 3B DOID:0110842|OMIM:614504|Orphanet:886|ICD10:H35.5|Orphanet:231183|UMLS:C3281066 owl:Class MONDO:0016485 biolink:NamedThing Usher syndrome type 3 A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. tmpte7i6ely_mondo_relaxed.owl Usher syndrome type 3|USH3 OMIM:500004|OMIM:614504|UMLS:C1568248|GARD:0005442|DOID:0110828|OMIM:276902|ICD10:H35.5|NCIT:C126329|Orphanet:231183 owl:Class MONDO:0010292 biolink:NamedThing Uruguay Faciocardiomusculoskeletal syndrome tmpte7i6ely_mondo_relaxed.owl FCMSU|Uruguay Faciocardiomusculoskeletal syndrome|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome|Fcms|faciocardiomusculoskeletal syndrome, Uruguay type UMLS:C1846010|OMIM:300280|MESH:C564544 owl:Class MONDO:0012551 biolink:NamedThing alopecia areata 2 tmpte7i6ely_mondo_relaxed.owl alopecia areata 2|AA2 Orphanet:700|UMLS:C1853104|OMIM:610753|Orphanet:701|MESH:C565186 owl:Class MONDO:0019080 biolink:NamedThing alopecia totalis Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. tmpte7i6ely_mondo_relaxed.owl alopecia totalis|total alopecia areata Orphanet:700|ICD9:704.09|ICD10:L63.0|OMIM:610753|GARD:0000613|MedDRA:10001766|UMLS:C0263504|OMIM:300042|OMIM:104000|SCTID:19754005 owl:Class UBERON:0003412 biolink:NamedThing pelvic appendage bud mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017184 biolink:NamedThing autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). tmpte7i6ely_mondo_relaxed.owl autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency UMLS:C4274080|OMIM:256450|ICD10:E16.1|UMLS:CN202625|SCTID:717046003|Orphanet:276575 owl:Class MONDO:0015624 biolink:NamedThing diazoxide-sensitive diffuse hyperinsulinism tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form Orphanet:165985|ICD10:E16.1 owl:Class CHEBI:22563 biolink:NamedThing anion A monoatomic or polyatomic species having one or more elementary charges of the electron. tmpte7i6ely_mondo_relaxed.owl aniones|anion|Anion|anions|Anionen owl:Class GO:0002833 biolink:NamedThing positive regulation of response to biotic stimulus Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. tmpte7i6ely_mondo_relaxed.owl stimulation of response to biotic stimulus|activation of response to biotic stimulus|upregulation of response to biotic stimulus|up regulation of response to biotic stimulus|up-regulation of response to biotic stimulus owl:Class UBERON:0004218 biolink:NamedThing lower leg nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003431 biolink:NamedThing leg nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011262 biolink:NamedThing camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). tmpte7i6ely_mondo_relaxed.owl camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye|Rozin hertz Goodman syndrome|camptodactyly, joint contractures, facial skeletal defects UMLS:C1865133|Orphanet:1323|GARD:0000216|ICD10:Q87.0|MESH:C535876|SCTID:715986009|OMIM:602612 Editor note: check ORDO owl:Class GO:0070255 biolink:NamedThing regulation of mucus secretion Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl regulation of mucus production owl:Class MONDO:0015934 biolink:NamedThing non-syndromic urogenital tract malformation of male and female tmpte7i6ely_mondo_relaxed.owl nonsyndromic urogenital tract malformation of male and female|isolated urogenital tract malformation of male and female Orphanet:182124 Editor note: consider obsoleting as semantics not clear owl:Class MONDO:0016418 biolink:NamedThing multiple system atrophy, cerebellar type Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). tmpte7i6ely_mondo_relaxed.owl sporadic OPCA type 1|MSA-c|MSA, cerebellar type|sporadic olivopontocerebellar atrophy type 1 Orphanet:227510|UMLS:CN201371|ICD10:G90.3 owl:Class MONDO:0007803 biolink:NamedThing multiple system atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. tmpte7i6ely_mondo_relaxed.owl autonomic failure, Pure|multisystem atrophy|susceptibility to multiple system atrophy 1|Shy-dragger syndrome (formerly)|MSA|Shy-Drager syndrome|hypotension, orthostatic NCIT:C84909|GARD:0007079|UMLS:C0037019|EFO:1001050|MedDRA:10064060|MESH:D019578|UMLS:C0393911|UMLS:C0393571|ICD10:G90.3|DOID:4752|Orphanet:102 owl:Class MONDO:0007746 biolink:NamedThing orthostatic hypotensive disorder, Streeten type tmpte7i6ely_mondo_relaxed.owl orthostatic hypotensive disorder|OHDS|orthostatic hypotensive disorder, Streeten type|hyperbradykininism UMLS:C1840438|MESH:C564174|OMIM:143850 owl:Class MONDO:0020480 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency tmpte7i6ely_mondo_relaxed.owl molybdenum cofactor deficiency|MOCOD|combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase OMIM:252160|OMIM:615501|OMIMPS:252150|OMIM:252150|ICD10:E72.1|GARD:0003705|DOID:0111165|Orphanet:99732 Editor note: DO class is more general owl:Class MONDO:0004689 biolink:NamedThing inborn metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. tmpte7i6ely_mondo_relaxed.owl metal metabolism, inborn error|metal metabolism disorder UMLS:C0025534|MESH:D008664|DOID:896 owl:Class CL:0000067 biolink:NamedThing ciliated epithelial cell An epithelial cell that has a cilia. tmpte7i6ely_mondo_relaxed.owl FMA:70605 cell owl:Class HGNC:21150 biolink:NamedThing RNF125 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012011 biolink:NamedThing coronary artery disease, autosomal dominant, 1 Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene. tmpte7i6ely_mondo_relaxed.owl coronary artery disease, autosomal dominant, type 1|coronary artery disease, autosomal dominant, 1|MEF2A coronary artery disease|ADCAD1|coronary artery disease with myocardial infarction|coronary artery disease caused by mutation in MEF2A OMIM:608320|UMLS:C1842247|MESH:C564258 owl:Class UBERON:0006293 biolink:NamedThing spleen primordium tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001317 biolink:NamedThing Abnormal cerebellum morphology Any structural abnormality of the cerebellum. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebellum|Cerebellar anomaly|Cerebellar abnormality|Cerebellar abnormalities|Cerebellar signs UMLS:C0742038|UMLS:C1866129 A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. human_phenotype owl:Class HGNC:7690 biolink:NamedThing NDUFA6 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000278 biolink:NamedThing Retrognathia An abnormality in which the mandible is mislocalised posteriorly. tmpte7i6ely_mondo_relaxed.owl Weak jaw|Lower jaw retrognathia|Receding chin|Receding lower jaw|Retrognathia of lower jaw|Weak chin|Retrogenia|Receding mandible UMLS:C3494422|MSH:D063173 HP:0002954|HP:0002053 human_phenotype owl:Class HP:0000277 biolink:NamedThing Abnormality of the mandible Any abnormality of the mandible, the bone of the lower jaw. tmpte7i6ely_mondo_relaxed.owl Abnormality of the mandible|Deformity of the lower jaw bone|Malformation of the mandible|Deformity of the mandible|Malformation of the lower jaw bone|Abnormality of the lower jaw bone|Anomaly of the mandible UMLS:C4025870 HP:0000209 human_phenotype owl:Class MONDO:0010407 biolink:NamedThing intellectual disability, X-linked syndromic, Turner type An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic, Turner type|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|Juberg-Marsidi Syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|Brooks-Wisniewski-Brown Syndrome|X-linked mental retardation Brooks type|MRXST|intellectual disability, X-linked syndromic, Turner type|Brooks Wisniewski Brown syndrome|Brooks-Wisniewski-Brown syndrome|X-linked intellectual disability, Brooks type|X-linked intellectual disability, Turner type|syndromic X-linked intellectual disability Turner type|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|mental retardation and macrocephaly syndrome GARD:0005610|MESH:C567476|UMLS:C2678046|OMIM:300612|ICD10:Q87.8|UMLS:C0796272|Orphanet:85328|Orphanet:3056|DOID:0060829|DOID:0060811|SCTID:725912001|OMIM:300706|MESH:C563154|GARD:0005604|OMIM:309590 owl:Class MONDO:0021005 biolink:NamedThing faciodigitogenital syndrome A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome. tmpte7i6ely_mondo_relaxed.owl Aarskog-Scott syndrome|Aarskog syndrome|faciogenital dysplasia MedDRA:10067148|OMIM:305400|ICD10:Q87.1|OMIM:100050 owl:Class MONDO:0007085 biolink:NamedThing alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|alopecia, epilepsy, pyorrhea, mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea|Shokeir syndrome OMIM:104130|UMLS:C1863090|GARD:0000607|ICD10:Q87.8|SCTID:720980004|Orphanet:1008|MESH:C537057 owl:Class MONDO:0003328 biolink:NamedThing fallopian tube adenomatoid tumor A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding. tmpte7i6ely_mondo_relaxed.owl fallopian tube adenomatoid tumor UMLS:C1517110|NCIT:C40129|DOID:5196 owl:Class MONDO:0002373 biolink:NamedThing benign mesothelioma A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body. tmpte7i6ely_mondo_relaxed.owl benign tumor of mesothelial tissue|mesothelioma, benign|benign tumor of mesothelium ICD9:215.9|SCTID:254825007|ICD10:C45|DOID:2645|ICD10:C45.9|UMLS:C0348424 owl:Class MONDO:0043004 biolink:NamedThing Weil's disease A jauncice caused by severe leptospirosis. tmpte7i6ely_mondo_relaxed.owl spirochetal jaundice|Weils disease|Weil disease|leptospirosis, icterohemorrhagic|icteric leptospirosis|jaundice, spirochetal|Weil's disease|Icterohemorrhagic leptospirosis|disease, Weil's|weil's disease|disease, Weil MESH:D014895|SCTID:398067003 owl:Class MONDO:0005825 biolink:NamedThing leptospirosis A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. tmpte7i6ely_mondo_relaxed.owl Weil disease|nanukayami fever|infection due to Leptospira|seven day fever|cane-cutter fever|swineherd's disease|rat catcher's yellows|fort Bragg fever|harvest fever|rice-field worker's disease|Leptospira caused disease or disorder|leptospirosis icterohaemorrhagica|Leptospira infectious disease|mud fever|Leptospira disease or disorder|swamp fever|cane cutter's fever|Icterohemorrhagic fever|japanese autumnal fever|canicola fever|Stuttgart disease|leptospirosis|Queensland fever|hemorrhagic jaundice|rice-field fever|spirochetal jaundice SCTID:398067003|ICD9:100.0|EFO:0007344|SCTID:77377001|Orphanet:509|MESH:D014895|MedDRA:10024238|ICD9:100.89|ICD10:A27|ICD10:A27.8|ICD9:100.9|DOID:2297|NCIT:C84825|ICD10:A27.0|ICD9:100|UMLS:C0023364|ICD10:A27.9|GARD:0007881|MESH:D007922 https://rarediseases.info.nih.gov/diseases/7881/leptospirosis owl:Class MONDO:0013047 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase M-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern. tmpte7i6ely_mondo_relaxed.owl GSD 11|lactate dehydrogenase deficiency type A|glycogen storage disease XI|GSD due to lactate dehydrogenase M-subunit deficiency|LDH-M subunit deficiency|GSD type 11|glycogen storage disease type 11|LDHA glycogen storage disease|GSD XI|GSD11|lactate dehydrogenase A deficiency|glycogen storage disease caused by mutation in LDHA|glycogenosis due to lactate dehydrogenase M-subunit deficiency|glycogenosis type 11 Orphanet:2364|HGNC:6535|ICD9:271.8|Orphanet:284426|ICD10:E74.0|MESH:C538133|GARD:0003160|OMIM:612933|SCTID:237982007 https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency owl:Class MONDO:0018043 biolink:NamedThing Thomas syndrome Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Potter sequence-cleft lip/palate-cardiopathy syndrome SCTID:716740009|UMLS:C2931225|ICD10:Q87.8|Orphanet:3316|MESH:C536514|GARD:0005175 owl:Class MONDO:0007679 biolink:NamedThing GMS syndrome GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl Goniodysgenesis--mental retardation--short stature syndrome|Goniodysgenesis-intellectual disability-short stature syndrome|GMS syndrome|Goniodysgenesis--intellectual disability--short stature syndrome SCTID:716024001|ICD10:Q87.8|MESH:C564214|Orphanet:2090|GARD:0002523|OMIM:138770|UMLS:C1841854 https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome owl:Class CHEBI:23906 biolink:NamedThing monoatomic cation tmpte7i6ely_mondo_relaxed.owl monoatomic cations owl:Class CHEBI:36916 biolink:NamedThing cation A monoatomic or polyatomic species having one or more elementary charges of the proton. tmpte7i6ely_mondo_relaxed.owl cationes|cation|Kation|Kationen|cations|Cation owl:Class HP:0012337 biolink:NamedThing Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. tmpte7i6ely_mondo_relaxed.owl MP:0001764|UMLS:C4022950 peter 2013-09-13T09:23:23Z human_phenotype owl:Class MONDO:0018780 biolink:NamedThing congenital generalized hypercontractile muscle stiffness syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:476406 owl:Class MONDO:0017998 biolink:NamedThing PLA2G6-associated neurodegeneration Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene. tmpte7i6ely_mondo_relaxed.owl PLAN|PLA2G6 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation caused by mutation in PLA2G6 Orphanet:329303|ICD10:G23.0|GARD:0012567 owl:Class FOODON:03430130 biolink:NamedThing food (liquid) A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*. tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F5105 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) owl:Class FOODON:00002454 biolink:NamedThing food product by quality A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004504 biolink:NamedThing penile urethral cancer A urethra cancer that involves the penis. tmpte7i6ely_mondo_relaxed.owl penis urethra cancer|penile urethral malignant neoplasm|urethra cancer of penis DOID:8223|UMLS:C1518950|NCIT:C39868 owl:Class MONDO:0012579 biolink:NamedThing autoimmune pulmonary alveolar proteinosis Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS). tmpte7i6ely_mondo_relaxed.owl pulmonary alveolar proteinosis, acquired|PAP|autoimmune PAP|idiopathic PAP|pulmonary alveolar proteinosis acquired|APAP|iPAP|pulmonary alveolar lipoproteinosis, acquired|pulmonary alveolar proteinosis, autoimmune|Pap, acquired|idiopathic pulmonary alveolar proteinosis|pulmonary alveolar lipoproteinosis acquired|acquired pulmonary alveolar proteinosis|pulmonary alveolar proteinosis autoimmune|PAP acquired OMIM:610910|GARD:0007499|Orphanet:747|MESH:C567049|ICD10:J84.0|SCTID:707443007|UMLS:C1970472 https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis owl:Class MONDO:0001437 biolink:NamedThing pulmonary alveolar proteinosis A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever. tmpte7i6ely_mondo_relaxed.owl pulmonary alveolar proteinosis|PAP Orphanet:264675|Reactome:R-HSA-5683826|OMIM:610921|MESH:D011649|OMIM:265120|OMIM:614370|NCIT:C85037|UMLS:C0034050|ICD9:516.0|SCTID:10501004|OMIM:300770|ICD10:J84.01|DOID:12120|OMIM:610913 owl:Class MONDO:0021364 biolink:NamedThing neoplasm of oropharynx A neoplasm (disease) that involves the oropharynx. tmpte7i6ely_mondo_relaxed.owl tumor of the oropharynx|neoplasm of oropharynx|oropharynx tumor|oropharynx neoplasm (disease)|tumor of oropharynx|oropharyngeal neoplasm|oropharyngeal neoplasms|neoplasm of the oropharynx|oropharyngeal tumor|oropharynx neoplasm SCTID:126809003|UMLS:C0029295|NCIT:C3291 owl:Class CHEBI:51151 biolink:NamedThing dipolar compound An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. tmpte7i6ely_mondo_relaxed.owl dipolar compounds owl:Class CHEBI:72695 biolink:NamedThing organic molecule Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. tmpte7i6ely_mondo_relaxed.owl organic compounds|organic molecules|organic compound owl:Class UBERON:0004517 biolink:NamedThing smooth muscle tissue of respiratory bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004515 biolink:NamedThing smooth muscle tissue of bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020323 biolink:NamedThing primary mediastinal large B-cell lymphoma A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl B-cell diffuse large cell lymphoma of mediastinum|large cell lymphoma of the mediastinum|PMBL|B-cell diffuse large cell lymphoma of the mediastinum|primary mediastinal large B-cell lymphoma|primary mediastinal (thymic) large B-cell lymphoma|primary mediastinal clear cell lymphoma of B-cell type|mediastinal B-cell diffuse large cell lymphoma|mediastinal diffuse large-cell lymphoma with sclerosis|primary mediastinal B-cell lymphoma|Med-DLBCL|PMLCL|mediastinal diffuse large cell lymphoma with sclerosis|mediastinal large B-cell lymphoma|mediastinal (thymic) large B-cell lymphoma NCIT:C9280|Orphanet:98838|ICD10:C85.2|MedDRA:10036710|ICDO:9679/3|SCTID:444910004|UMLS:C1292754|ICD10:C83.3|DOID:0080210|ONCOTREE:PMBL owl:Class UBERON:0014483 biolink:NamedThing distal phalanx of digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022873 biolink:NamedThing corpus callosum dysgenesis cleft spasm tmpte7i6ely_mondo_relaxed.owl GARD:0001541 https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm owl:Class MONDO:0012217 biolink:NamedThing Bruck syndrome 2 Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene. tmpte7i6ely_mondo_relaxed.owl Bruck syndrome type 2|Bruck syndrome caused by mutation in PLOD2|Bruck syndrome 2|osteogenesis imperfecta with congenital Joint contractures|PLOD2 Bruck syndrome|BRKS2 Orphanet:2771|OMIM:609220|UMLS:C1836602|GARD:0010023 owl:Class MONDO:0003024 biolink:NamedThing breast angiosarcoma A malignant vascular neoplasm arising from the breast. tmpte7i6ely_mondo_relaxed.owl breast angiosarcoma|angiosarcoma of breast|angiosarcoma of the breast|hemangiosarcoma of the breast|hemangiosarcoma of breast|BA|breast angiosarcoma (disease)|angiosarcoma (disease) of breast|breast hemangiosarcoma GARD:0009974|ONCOTREE:BA|UMLS:C1332614|DOID:4511|NCIT:C5184|MESH:C536368 https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast owl:Class MONDO:0014284 biolink:NamedThing short-rib thoracic dysplasia 10 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. tmpte7i6ely_mondo_relaxed.owl short-rib thoracic dysplasia 10 with or without polydactyly|SRTD10 ICD10:Q87.5|DOID:0110091|ICD10:Q77.2|OMIM:615630|Orphanet:140969|Orphanet:474|UMLS:C3810175 owl:Class MONDO:0007904 biolink:NamedThing median nodule of the upper lip Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. tmpte7i6ely_mondo_relaxed.owl LIP, MEDIAN NODULE of upper OMIM:151630|Orphanet:2699|UMLS:C1835396|GARD:0003440|ICD10:Q18.8|SCTID:722034006 https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip owl:Class MONDO:0009280 biolink:NamedThing monosodium glutamate sensitivity tmpte7i6ely_mondo_relaxed.owl monosodium glutamate sensitivity|Chinese restaurant syndrome UMLS:C0008127|ICD9:989.89|SCTID:56344009|MESH:C562377|OMIM:231630 owl:Class MONDO:0016535 biolink:NamedThing hypohidrotic ectodermal dysplasia A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). tmpte7i6ely_mondo_relaxed.owl anhidrotic ectodermal dysplasia|HED|EDA|ectodermal dysplasia anhidrotic|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia 1, Anhydrotic|anhidrotic ectodermal dysplasia 1|CST syndrome|hypohidrotic X-linked ectodermal dysplasia|anhidrotic ectodermal dysplasia 3 SCTID:239007005|DOID:14793|OMIM:300291|OMIM:305100|OMIM:224900|OMIM:612132|Orphanet:238468|OMIM:614941|NCIT:C84562|ICD10:Q82.4|OMIM:614940|SCTID:7731005|OMIM:129490|HP:0007607|GARD:0000076|UMLS:C0406702 DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic https://github.com/monarch-initiative/mondo/issues/4104 owl:Class MONDO:0005364 biolink:NamedThing Graves disease Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. tmpte7i6ely_mondo_relaxed.owl Graves' hyperthyroidism|Graves' disease|Basedow's disease|exophthalmic goiter|Graves disease|grave's disease|Basedow disease|parry disease ICD9:242.0|SCTID:353295004|NCIT:C3071|DOID:12361|EFO:0004237|MESH:D006111|DOID:10719|OMIM:603388|GARD:0006549|SCTID:267374005|OMIM:300351|OMIM:275000|ICD10:E05.0 https://rarediseases.info.nih.gov/diseases/6549/graves-disease owl:Class MONDO:0001104 biolink:NamedThing toxic diffuse goiter tmpte7i6ely_mondo_relaxed.owl ICD9:242.00|DOID:10719|SCTID:267374005 owl:Class MONDO:0033557 biolink:NamedThing hemophagocytic lymphohistiocytosis, familial, 6 tmpte7i6ely_mondo_relaxed.owl FHL6|HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6 OMIM:618998 owl:Class MONDO:0030268 biolink:NamedThing developmental and epileptic encephalopathy 6B tmpte7i6ely_mondo_relaxed.owl developmental and epileptic encephalopathy 6B|DEE6B OMIM:619317 owl:Class GO:0006887 biolink:NamedThing exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. tmpte7i6ely_mondo_relaxed.owl vesicle exocytosis|nonselective vesicle exocytosis owl:Class GO:0016192 biolink:NamedThing vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. tmpte7i6ely_mondo_relaxed.owl vesicular transport|nonselective vesicle transport|protein sorting along secretory pathway|vesicle transport|vesicle trafficking owl:Class OBO:CHR_9606-chr13 biolink:NamedThing chromosome 13 (Human) tmpte7i6ely_mondo_relaxed.owl 13 114364328 0 hg38 owl:Class MONDO:0000414 biolink:NamedThing childhood electroclinical syndrome A electroclinical syndrome that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl electroclinical syndrome of childhood|pediatric electroclinical syndrome DOID:0050704 owl:Class CL:1000546 biolink:NamedThing kidney medulla collecting duct epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001060 cell owl:Class GO:0008283 biolink:NamedThing cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population. tmpte7i6ely_mondo_relaxed.owl cell proliferation owl:Class MONDO:0016943 biolink:NamedThing partial duplication of the short arm of chromosome 6 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl 6p duplication|partial trisomy of chromosome 6p|6p trisomy|chromosome 6p duplication|partial trisomy of the short arm of chromosome 6|partial trisomy 6p|Duplication 6p|partial duplication of chromosome 6p|trisomy 6p|partial duplication of the short arm of chromosome type 6 MESH:C537811|GARD:0005352|UMLS:CN036641|Orphanet:262740 owl:Class MONDO:0007034 biolink:NamedThing Adams-Oliver syndrome Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. tmpte7i6ely_mondo_relaxed.owl Adams Oliver syndrome|limb, scalp and skull defects|limb scalp and skull defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|AOS OMIM:615297|OMIM:614814|UMLS:C0265268|SCTID:34748004|MESH:C538225|OMIM:616589|OMIM:100300|ICD9:759.89|OMIMPS:100300|OMIM:614219|GARD:0005739|OMIM:616028|ICD10:Q87.2|DOID:0060227|Orphanet:974 https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome owl:Class GO:0006165 biolink:NamedThing nucleoside diphosphate phosphorylation The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009117 biolink:NamedThing nucleotide metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). tmpte7i6ely_mondo_relaxed.owl nucleotide metabolism owl:Class MONDO:0009769 biolink:NamedThing oculo-palato-cerebral syndrome Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl oculo-palato-cerebral dwarfism|OPC dwarfism|oculopalatocerebral dwarfism|oculopalatocerebral syndrome ICD10:Q87.1|Orphanet:2714|UMLS:C1850338|OMIM:257910|MESH:C564935|SCTID:722055008 owl:Class MONDO:0012497 biolink:NamedThing congenital stationary night blindness autosomal dominant 3 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. tmpte7i6ely_mondo_relaxed.owl night blindness, congenital stationary, autosomal dominant type 3|Nougaret type congenital stationary night blindness|congenital stationary night blindness autosomal dominant type 3|night blindness, congenital stationary, autosomal dominant 3|CSNBAD3|night blindness, congenital stationary, Nougaret type DOID:0110715|MESH:C566475|OMIM:610444|UMLS:C1864870 owl:Class MONDO:0018246 biolink:NamedThing homozygous 2p21 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl 2p21 contiguous gene deletion syndrome ICD10:Q93.5|Orphanet:369886|UMLS:CN204808 owl:Class UBERON:0035129 biolink:NamedThing pes cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007458 biolink:NamedThing digitotalar dysmorphism; ulnar drift, hereditary tmpte7i6ely_mondo_relaxed.owl digitotalar dysmorphism|ulnar drift, hereditary UMLS:C1852085|SCTID:715314008|OMIM:126050 owl:Class MONDO:0019078 biolink:NamedThing Ritscher-Schinzel syndrome Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. tmpte7i6ely_mondo_relaxed.owl Ritscher-Schinzel cranio-cerebello-cardiac syndrome|cranio-cerebello-cardiac dysplasia|Dandy-Walker like malformation with atrioventricular septal defect|Dandy-Walker-like malformation with ASD|Ritscher Schinzel syndrome|Dandy-Walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|Craniocerebellocardiac dysplasia|3C syndrome|CCC dysplasia|Ritscher-Schinzel syndrome DOID:0060565|ICD10:Q87.8|Orphanet:7|MESH:C535313|OMIM:220210|OMIM:300963|OMIMPS:220210|SCTID:718556007|UMLS:C0796137|GARD:0005666 https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect owl:Class MONDO:0007745 biolink:NamedThing Gilbert syndrome An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. tmpte7i6ely_mondo_relaxed.owl Gilbert disease|hyperbilirubinemia, Gilbert type|familial cholemia|Gilbert's disease|hereditary nonhemolytic jaundice|Gilbert syndrome|hyperbilirubinemia 1|Gilbert-Meulengracht syndrome|hyperbilirubinemia, Arias type|hyperbilirubinemia type 1|constitutional hyperbilirubinemia|Gilbert's syndrome NCIT:C84729|GARD:0006507|SCTID:27503000|EFO:0005556|MESH:D005878|DOID:2739|Orphanet:357|ICD10:E80.4|OMIM:143500 owl:Class HP:0000953 biolink:NamedThing Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition. tmpte7i6ely_mondo_relaxed.owl Hyperpigmented lesion|Skin hyperpigmentation|Melanodermia|Cutaneous hyperpigmentation|Melanoderma|Patchy darkened skin|Increased skin pigmentation SNOMEDCT_US:49765009|UMLS:C0162834|SNOMEDCT_US:4830009|MSH:D017495 HP:0007527 human_phenotype owl:Class HP:0001000 biolink:NamedThing Abnormality of skin pigmentation An abnormality of the pigmentation of the skin. tmpte7i6ely_mondo_relaxed.owl Abnormality of skin pigmentation|Abnormal skin color|Abnormal pigmentation|Pigmentation anomaly|Pigmentary skin changes|Abnormal skin colour|Pigmentary changes|Abnormal skin pigmentation|Abnormality of pigmentation UMLS:C1260926 HP:0200045|HP:0007582 human_phenotype owl:Class MONDO:0009850 biolink:NamedThing periodontitis, chronic, adult tmpte7i6ely_mondo_relaxed.owl periodontitis, chronic|periodontitis, adult UMLS:C0266929|OMIM:260950|SCTID:74797001 owl:Class MONDO:0005730 biolink:NamedThing Dictyocaulus infectious disease Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation. tmpte7i6ely_mondo_relaxed.owl infection, Dictyocaulus|Dictyocaulus caused disease or disorder|Dictyocauliases|Dictyocaulus disease or disorder|infections, Dictyocaulus|Dictyocauliasis|Dictyocaulus infection UMLS:C0012118|MESH:D004022|EFO:0007235 MONDO:0025190 owl:Class MONDO:0005994 biolink:NamedThing trichostrongyloidiasis Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. tmpte7i6ely_mondo_relaxed.owl Trichostrongyloidea caused disease or disorder|Trichostrongyloidea disease or disorder|Trichostrongyloidea infectious disease EFO:0007522|UMLS:C0040947|MESH:D014252|DOID:1255 owl:Class MONDO:0700009 biolink:NamedThing chromosome 2 disorder Chromosomal disorder in which chromosome 2 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0009500 biolink:NamedThing kuru, susceptibility to tmpte7i6ely_mondo_relaxed.owl kuru, susceptibility to|susceptibility to kuru UMLS:C1855588|OMIM:245300 owl:Class CL:0005000 biolink:NamedThing spinal cord interneuron A CNS interneuron located in the spinal cord. tmpte7i6ely_mondo_relaxed.owl Is_a interneuron, part_of UBERON:0002240. cell owl:Class HGNC:28867 biolink:NamedThing IGF2BP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004692 biolink:NamedThing external naris epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021254 biolink:NamedThing corpus uteri neoplasm A neoplasm (disease) that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl neoplasm of the uterine body|tumor of body of uterus|tumor of the uterine body|tumor of the uterine corpus|neoplasm of corpus uteri|uterine body tumor|neoplasm of the body of uterus|uterine body neoplasm|neoplasm of uterine body|neoplasm of body of uterus|neoplasm of the corpus uteri|tumor of corpus uteri|tumor of uterine body|uterine corpus neoplasm|uterine corpus tumor|tumor of uterine corpus|neoplasm of uterine corpus|neoplasm of the uterine corpus|body of uterus tumor|tumor of the corpus uteri|body of uterus neoplasm (disease)|body of uterus neoplasm|corpus uteri tumor SCTID:126909004|NCIT:C6300|UMLS:C1263777 MONDO:0021256|MONDO:0021255 owl:Class MONDO:0019501 biolink:NamedThing Usher syndrome A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. tmpte7i6ely_mondo_relaxed.owl dystrophia retinae pigmentosa-dysostosis syndrome|retinitis pigmentosa-deafness syndrome|Usher's syndrome|Graefe-Usher syndrome|deafness-retinitis pigmentosa syndrome|ush|Hallgren syndrome OMIM:276901|OMIM:602083|OMIMPS:276900|OMIM:614869|NCIT:C85217|DOID:0050439|OMIM:500004|OMIM:276900|MedDRA:10063396|UMLS:C0271097|OMIM:614990|OMIM:611383|SCTID:57838006|OMIM:606943|OMIM:602097|OMIM:612632|OMIM:601067|UMLS:C1568248|OMIM:614504|MESH:D052245|Orphanet:886|OMIM:276902|ICD10:H35.5|GARD:0007843|OMIM:605472|OMIM:276904 owl:Class MONDO:0002519 biolink:NamedThing anus disorder A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. tmpte7i6ely_mondo_relaxed.owl anal fissure and fistula|fissure in ano|anal disorder|solitary anal ulcer|disorder of anus|Ulcer of anus|anus disease or disorder|anal fissure|disease of anus|anus disease|nontraumatic tear of anus|anal disease|anal ulcer|disease or disorder of anus|disorder of anal region MESH:D001004|UMLS:C0016167|UMLS:C0003462|DOID:3128|UMLS:C1301262|NCIT:C26695|SCTID:32110003 owl:Class MONDO:0001593 biolink:NamedThing rectal disorder A disease that involves the rectum. tmpte7i6ely_mondo_relaxed.owl disorder of rectum|disease or disorder of rectum|rectum disease|rectum disease or disorder|rectal disorder|disease of rectum SCTID:5964004|MESH:D012002|DOID:1285|ICD9:569.49|UMLS:C0034882 owl:Class MONDO:0006886 biolink:NamedThing thyroid gland papillary and follicular carcinoma A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) tmpte7i6ely_mondo_relaxed.owl papillary follicular thyroid adenocarcinoma|papillary and follicular adenocarcinoma|papillary and follicular carcinoma|thyroid gland papillary and follicular carcinoma NCIT:C7380|UMLS:C0206683|DOID:3968|MESH:D018265|EFO:1001083 owl:Class MONDO:0005034 biolink:NamedThing thyroid gland follicular carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. tmpte7i6ely_mondo_relaxed.owl follicular adenocarcinoma, well differentiated|follicular cancer of the thyroid|thyroid gland adenocarcinoma|thyroid follicle carcinoma|follicular cancer of the thyroid gland|follicular thyroid carcinoma|follicular cancer of thyroid gland|follicular carcinoma of the thyroid gland|follicular carcinoma of the thyroid|follicular adenocarcinoma, well differentiated (morphologic abnormality)|thyroid gland follicular cancer|follicular cancer of thyroid|well-differentiated follicular carcinoma|well-differentiated follicular adenocarcinoma|follicular thyroid gland carcinoma|carcinoma, follicular cell, malignant|thyroid gland follicular carcinoma|follicular thyroid cancer|follicular carcinoma of thyroid gland|follicular adenocarcinoma|follicular carcinoma of thyroid|thyroid follicular carcinoma|carcinoma of thyroid follicle|follicular adenocarcinoma (morphologic abnormality)|follicular carcinoma EFO:0000501|SCTID:255028004|MESH:D018263|OMIM:188470|NCIT:C27380|OMIM:616534|ONCOTREE:THFO|OMIM:607464|ICDO:8330/3|HP:0006731|DOID:3962|OMIM:616535|ICDO:8331/3|NCIT:C8054 owl:Class MONDO:0033004 biolink:NamedThing polycystic kidney disease 4 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease 4 with or without polycystic liver disease|polycystic kidney and hepatic disease 1|hepatic fibrosis, congenital|PKD3, formerly|polycystic kidney disease, autosomal recessive|PKD4|polycystic kidney disease, infantile, type 1|polycystic kidney disease 4 with or without hepatic disease|polycystic kidney disease 4|PKD3 OMIM:263200|DOID:0080212 owl:Class MONDO:0020642 biolink:NamedThing polycystic kidney disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease|PKD - polycystic kidney disease|fibrocystic renal disease OMIMPS:173900|NCIT:C75464|DOID:0080322|SCTID:82525005|MESH:D007690 https://github.com/monarch-initiative/mondo/issues/3532 owl:Class MONDO:0005041 biolink:NamedThing glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. tmpte7i6ely_mondo_relaxed.owl glaucoma|glaucoma (disease) glaucoma (disease) ICD10:H40.H42|UMLS:C0017601|ICD9:365.89|HP:0000501|MESH:D005901|ICD10:H40.9|EFO:0000516|ICD9:365.9|ICD10:H40-H42|ICD10:H40|DOID:1686|NCIT:C26782|ICD9:365|SCTID:23986001 owl:Class UBERON:0001766 biolink:NamedThing anterior chamber of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006311 biolink:NamedThing chamber of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905940 biolink:NamedThing negative regulation of gonad development Any process that stops, prevents or reduces the frequency, rate or extent of gonad development. tmpte7i6ely_mondo_relaxed.owl down-regulation of gonadogenesis|inhibition of gonad development|down regulation of gonadogenesis|downregulation of gonadogenesis|inhibition of gonadogenesis|negative regulation of gonadogenesis|down regulation of gonad development|downregulation of gonad development|down-regulation of gonad development owl:Class GO:1905939 biolink:NamedThing regulation of gonad development Any process that modulates the frequency, rate or extent of gonad development. tmpte7i6ely_mondo_relaxed.owl regulation of gonadogenesis owl:Class MONDO:0030706 biolink:NamedThing Trichomonas cystitis An cystitis caused by infection with Trichomonas vaginalis. tmpte7i6ely_mondo_relaxed.owl cystitis in trichomoniasis|Trichomonas vaginalis cystitis|Trichomonas cystitis|Trichomonas vaginalis caused cystitis|trichomonal cystitis NCIT:C35405|SCTID:197850006|UMLS:C0341733|ICD9:131.09 owl:Class MONDO:0010276 biolink:NamedThing radioulnar synostosis, radial ray abnormalities, and severe malformations in the male tmpte7i6ely_mondo_relaxed.owl radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE OMIM:300233|UMLS:C1846147|MESH:C564557 owl:Class PATO:0001171 biolink:NamedThing elastic An elasticity quality inhering in a bearer by virtue of the bearer's ability to recover its size and shape after deformation in any way. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001031 biolink:NamedThing elasticity A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020360 biolink:NamedThing complete cryptophthalmia tmpte7i6ely_mondo_relaxed.owl DOID:0111719|Orphanet:98949|ICD10:Q11.2 owl:Class MONDO:0007410 biolink:NamedThing isolated cryptophthalmia Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl nonsyndromic cryptophthalmia|cryptophthalmos with microphthalmia and Peters anomaly|ankyloblepharon, simple|cryptophthalmos, unilateral or bilateral, isolated MESH:C565138|Orphanet:91396|UMLS:C1852453|ICD10:Q11.2|DOID:0111717|SCTID:718691008|OMIM:123570 owl:Class MONDO:0044788 biolink:NamedThing perihilar intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts. tmpte7i6ely_mondo_relaxed.owl perihilar intrahepatic cholangiocarcinoma|perihilar ICC|perihilar bile duct carcinoma|perihilar cholangiocarcinoma NCIT:C96804|ONCOTREE:PHCH owl:Class MONDO:0003210 biolink:NamedThing intrahepatic cholangiocarcinoma A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. tmpte7i6ely_mondo_relaxed.owl intrahepatic carcinoma of bile duct|intrahepatic cholangiocarcinoma (bile duct cancer)|cholangiocarcinoma, intrahepatic, malignant|intrahepatic bile duct carcinoma|ICC|IHCH|intrahepatic cholangiocarcinoma|intrahepatic carcinoma of the bile duct|intrahepatic Cholangiocellular carcinoma|peripheral cholangiocarcinoma|intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C35417|ICD10:C22.1|ONCOTREE:IHCH|DOID:4928|GARD:0006042|EFO:1001961|MESH:D018281|UMLS:C0345905|SCTID:109842005 https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma owl:Class UBERON:0001062 biolink:NamedThing anatomical entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000004 biolink:NamedThing independent continuant b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything.|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. tmpte7i6ely_mondo_relaxed.owl IndependentContinuant ic an organism|an orchestra.|a heart|a leg|a chair|the interior of your mouth|an atom|a spatial region|a molecule|the bottom right portion of a human torso (forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] |(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] |(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])|For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) owl:Class MONDO:0003234 biolink:NamedThing optic nerve astrocytoma A astrocytoma (excluding glioblastoma) that involves the cranial nerve II. tmpte7i6ely_mondo_relaxed.owl optic tract astrocytoma (excluding glioblastoma)|astrocytoma (excluding glioblastoma) of cranial nerve II|astrocytic tumor of optic nerve|optic nerve astrocytoma|cranial nerve II astrocytoma (excluding glioblastoma)|astrocytoma of the optic nerve|optic tract astrocytoma|astrocytoma of optic nerve UMLS:C1336971|DOID:4991|NCIT:C7533|NCIT:C6769|UMLS:C1335114 owl:Class MONDO:0003244 biolink:NamedThing central nervous system mesenchymal non-meningothelial tumor A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl mesenchymal, non-meningothelial tumor of the CNS|central nervous system soft tissue tumor|mesenchymal, non-meningothelial tumor of central nervous system|soft tissue tumor of CNS|mesenchymal non-meningothelial tumor of the central nervous system|CNS soft tissue neoplasm|soft tissue tumor of central nervous system|soft tissue tumor of the CNS|central nervous system mesenchymal, non-meningothelial neoplasm|soft tissue tumor of the central nervous system|mesenchymal, non-meningothelial tumor of CNS|central nervous system soft tissue neoplasm|soft tissue neoplasm of central nervous system|central nervous system mesenchymal, non-meningothelial tumor|soft tissue neoplasm of the central nervous system|soft tissue neoplasm of the CNS|non-meningothelial mesenchymal tumor|CNS soft tissue tumor|soft tissue neoplasm of CNS NCIT:C5449|DOID:502|UMLS:C1332893 owl:Class GO:0001959 biolink:NamedThing regulation of cytokine-mediated signaling pathway Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway. tmpte7i6ely_mondo_relaxed.owl regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signalling pathway|regulation of cytokine mediated signaling pathway owl:Class MONDO:0001358 biolink:NamedThing bronchial disorder A disease involving the bronchus. tmpte7i6ely_mondo_relaxed.owl bronchospasm|bronchus disease or disorder|disease of bronchus|bronchial disorder|bronchus disease|disease or disorder of bronchus|disorder of bronchus UMLS:C0006261|MESH:D001982|SCTID:41427001|DOID:1176|NCIT:C34439|EFO:1002018|ICD9:519.19 owl:Class UBERON:0018674 biolink:NamedThing heart vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002863 biolink:NamedThing positive regulation of inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpte7i6ely_mondo_relaxed.owl up regulation of inflammatory response to antigenic stimulus|stimulation of inflammatory response to antigenic stimulus|activation of inflammatory response to antigenic stimulus|up-regulation of inflammatory response to antigenic stimulus|upregulation of inflammatory response to antigenic stimulus owl:Class GO:0022843 biolink:NamedThing voltage-gated cation channel activity Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005261 biolink:NamedThing cation channel activity Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. tmpte7i6ely_mondo_relaxed.owl cation diffusion facilitator activity|non-selective cation channel activity owl:Class ECTO:0001057 biolink:NamedThing exposure to decreased temperature A exposure event involving the interaction of an exposure receptor to decreased temperature. tmpte7i6ely_mondo_relaxed.owl decreased temperature exposure owl:Class ECTO:0010003 biolink:NamedThing exposure to environmental physical object quality A exposure event involving the interaction of an exposure receptor to physical object quality. tmpte7i6ely_mondo_relaxed.owl physical object quality exposure owl:Class GO:1901135 biolink:NamedThing carbohydrate derivative metabolic process The chemical reactions and pathways involving carbohydrate derivative. tmpte7i6ely_mondo_relaxed.owl carbohydrate derivative metabolism owl:Class MONDO:0007655 biolink:NamedThing fissured tongue tmpte7i6ely_mondo_relaxed.owl erythema migrans|geographic tongue and fissured tongue|tongue, fissured|congenital fissure of tongue|scrotal tongue|plicated tongue|glossitis, benign migratory|geographic and fissured tongue|fissure of tongue, congenital|Furrowed tongue|lingua plicata|congenital plicated tongue|fissure of tongue|ectopic geographic tongue UMLS:C1842051|OMIM:137400|SCTID:52368004|ICD9:750.13|ICD10:K14.5|GARD:0006493|UMLS:C0040412|MESH:D014063|ICD9:529.5|DOID:11514 owl:Class MONDO:0011268 biolink:NamedThing renal tubular acidosis, distal, 3, with or without sensorineural hearing loss tmpte7i6ely_mondo_relaxed.owl RTADR|classical distal renal tubular acidosis|renal tubular acidosis, autosomal recessive, with preserved hearing|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|classical distal RTA|renal tubular acidosis, distal, 3, with or without sensorineural hearing loss|type 1 RTA|renal tubular acidosis, autosomal recessive with preserved hearing|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included|type 1 renal tubular acidosis|renal tubular acidosis, distal, autosomal recessive|RTA, distal, autosomal recessive GARD:0004669|Orphanet:18|OMIM:602722|UMLS:C1864498|Orphanet:402041 owl:Class MONDO:0018440 biolink:NamedThing autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. tmpte7i6ely_mondo_relaxed.owl autosomal recessive distal RTA|distal renal tubular acidosis (disease), autosomal recessive|AR dRTA|autosomal recessive distal renal tubular acidosis (disease) ICD10:N25.8|Orphanet:402041|OMIM:267300|OMIM:602722|UMLS:C1864498 owl:Class NCBITaxon:43075 biolink:NamedThing Trichomonas tenax tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004950 biolink:NamedThing submucosa of lobar bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008969 biolink:NamedThing dental follicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010371 biolink:NamedThing ecto-epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003398 biolink:NamedThing anterograde amnesia Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71) tmpte7i6ely_mondo_relaxed.owl DOID:5340|ICD10:R41.1|MESH:D020324 owl:Class UBERON:0002481 biolink:NamedThing bone tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014614 biolink:NamedThing congenital stationary night blindness 1G A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21. tmpte7i6ely_mondo_relaxed.owl congenital stationary night blindness type 1G|CSNB1G|night blindness, congenital stationary, type 1G UMLS:C4225345|Orphanet:215|OMIM:616389|DOID:0110714 owl:Class HGNC:16791 biolink:NamedThing TSEN15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015745 biolink:NamedThing microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200295|ICD10:Q04.3|Orphanet:171703 owl:Class MONDO:0010439 biolink:NamedThing cardiomyopathy, fatal fetal, due to myocardial calcification tmpte7i6ely_mondo_relaxed.owl myocardial calcifications resulting in intrauterine fetal death|cardiomyopathy, fatal fetal, due to myocardial calcification GARD:0008311|MESH:C543241|OMIM:300829|UMLS:C1853577 https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification owl:Class MONDO:0005768 biolink:NamedThing gastrointestinal tuberculosis Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. tmpte7i6ely_mondo_relaxed.owl tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum, and mesenteric glands ICD9:014.86|EFO:0007280|MESH:D014385|ICD9:014.80|SCTID:186225008|UMLS:C0041312|DOID:404|ICD9:014.81|UMLS:C0152717 owl:Class NCBITaxon:43741 biolink:NamedThing Acalyptratae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43738 biolink:NamedThing Schizophora tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054865 biolink:NamedThing encephalopathy due to mitochondrial and peroxisomal fission defect tmpte7i6ely_mondo_relaxed.owl encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission OMIMPS:614388|Orphanet:527276 owl:Class MONDO:0100276 biolink:NamedThing disorder of defective peroxisomal and mitochondrial fission A disease that has its basis in the disruption of peroxisome and mitochondrial fission. tmpte7i6ely_mondo_relaxed.owl peroxisome and mitochronrial fission disease|disorder of defective peroxisomal and mitochondrial fission http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:1902262 biolink:NamedThing apoptotic process involved in blood vessel morphogenesis Any apoptotic process that is involved in blood vessel morphogenesis. tmpte7i6ely_mondo_relaxed.owl apoptotic programmed cell death involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|apoptosis involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels owl:Class GO:0006915 biolink:NamedThing apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpte7i6ely_mondo_relaxed.owl apoptosis signaling|apoptotic program|apoptosis activator activity|apoptosis|apoptotic programmed cell death|commitment to apoptosis|apoptotic cell death|signaling (initiator) caspase activity|cellular suicide|induction of apoptosis by p53|caspase-dependent programmed cell death|induction of apoptosis|programmed cell death by apoptosis|type I programmed cell death|cell suicide|activation of apoptosis owl:Class UBERON:0004835 biolink:NamedThing epididymis smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003555 biolink:NamedThing Bartholin gland adenosquamous carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl Bartholin's gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma DOID:5630|UMLS:C1511050|NCIT:C40296 owl:Class MONDO:0004053 biolink:NamedThing bartholin gland squamous cell carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl major vestibular gland squamous cell carcinoma|bartholin gland squamous cell carcinoma|Bartholin's gland squamous cell carcinoma EFO:1000104|UMLS:C1511052|NCIT:C40293|DOID:6961 owl:Class GO:0010185 biolink:NamedThing regulation of cellular defense response Any process that modulates the frequency, rate or extent of cellular defense response. tmpte7i6ely_mondo_relaxed.owl regulation of cellular defence response owl:Class MONDO:0015183 biolink:NamedThing short bowel syndrome Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. tmpte7i6ely_mondo_relaxed.owl acquired short bowel syndrome|short gut syndrome ICD9:579.3|UMLS:C0036992|NCIT:C99059|GARD:0001502|DOID:10605|Orphanet:104008|MedDRA:10049416|SCTID:26629001|MESH:D012778 https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome owl:Class CHEBI:137982 biolink:NamedThing tertiary ammonium ion An organic cation obtained by protonation of the amino group of any tertiary amino compound. tmpte7i6ely_mondo_relaxed.owl tertiary ammonium ions|a tertiary amine|tertiary amine(1+) owl:Class MONDO:0041167 biolink:NamedThing carcinoid crisis A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia. tmpte7i6ely_mondo_relaxed.owl carcinoid crisis UMLS:C0342569|SCTID:237833006 Editor note: consider ceding to HPO owl:Class MONDO:0100347 biolink:NamedThing carcinoid syndrome tmpte7i6ely_mondo_relaxed.owl carcinoid tumor syndrome|carcinoid tumors, intestinal|malignant carcinoid syndrome|carcinoid syndrome MedDRA:10007270|GARD:0005994|EFO:1000852|SCTID:35868009|ICD9:259.2|ICD10:E34.0|NCIT:C3215|Orphanet:100093 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome owl:Class UBERON:0005613 biolink:NamedThing left dorsal aorta tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003513 biolink:NamedThing trunk blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032989 biolink:NamedThing cellular component morphogenesis The process in which cellular structures, including whole cells or cell parts, are generated and organized. tmpte7i6ely_mondo_relaxed.owl cellular structure morphogenesis owl:Class UBERON:0009911 biolink:NamedThing lobule tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03311737 biolink:NamedThing processed food product tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F11737 http://langual.org subset_siren owl:Class MONDO:0013412 biolink:NamedThing hypertrophic cardiomyopathy 9 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 9|hypertrophic cardiomyopathy type 9|hypertrophic cardiomyopathy caused by mutation in TTN|cardiomyopathy, familial hypertrophic, type 9|CMH9|TTN hypertrophic cardiomyopathy UMLS:C1861065|MESH:C566044|OMIM:613765|DOID:0110315 owl:Class MONDO:0007303 biolink:NamedThing cervical rib disease A rib that is attached to a cervical vertebra or enlarged transverse processes. tmpte7i6ely_mondo_relaxed.owl cervical rib|cervical rib syndrome ICD9:756.2|NCIT:C158329|OMIM:117900|MESH:D002573|HP:0000891|EFO:1000861|MedDRA:10008301|SCTID:72535009 About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. https://github.com/monarch-initiative/monarch-disease-ontology/issues/405 owl:Class MONDO:0016738 biolink:NamedThing primary germ cell tumor of central nervous system tmpte7i6ely_mondo_relaxed.owl primary germ cell tumor of CNS UMLS:CN201986|Orphanet:251995 owl:Class NCBITaxon:92088 biolink:NamedThing Trombiculoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:83141 biolink:NamedThing Parasitengona tmpte7i6ely_mondo_relaxed.owl velvet mites|Parasitengonae GC_ID:1 ncbi_taxonomy owl:Class HGNC:12309 biolink:NamedThing ZNHIT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009319 biolink:NamedThing pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. tmpte7i6ely_mondo_relaxed.owl brain iron accumulation type I syndrome|neurodegeneration with brain iron accumulation 1|neuroaxonal dystrophy, late infantile|Hallervorden-Spatz syndrome|pantothenate kinase-associated neurodegeneration|PKAN|neurodegeneration with brain iron accumulation type 1|NBIA1|Hallervorden-Spatz disease|pigmentary pallidal degeneration|Pkan neuroaxonal dystrophy, juvenile-onset SCTID:2992000|UMLS:C0018523|MESH:D006211|ICD10:G23.0|OMIM:234200|ICD9:333.0|NCIT:C84988|Orphanet:157850|GARD:0006564|DOID:3981 owl:Class MONDO:0010735 biolink:NamedThing Kennedy disease Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. tmpte7i6ely_mondo_relaxed.owl bulbospinal neuronopathy, X-linked recessive|spinal and bulbar muscular atrophy, X-linked type 1|X-linked bulbospinal muscular atrophy|SMAX1|X-linked spinal and bulbar muscular atrophy|X-linked BSMA|bulbospinal muscular atrophy, X-linked|spinal and bulbar muscular atrophy|Kennedy's disease|Kennedy spinal and bulbar muscular atrophy|spinal and bulbar muscular atrophy, X-linked 1|X-linked bulbospinal amyotrophy|spinal bulbar muscular atrophy|Kennedy disease|spinobulbar muscular atrophy|X-linked bulbo-spinal atrophy|SBMA Orphanet:481|OMIM:313200|MESH:D055534|ICD10:G12.2|GARD:0006818|MedDRA:10068600|SCTID:230253001|DOID:0060161|NCIT:C85233|UMLS:C1839259 owl:Class MONDO:0016115 biolink:NamedThing bulbospinal muscular atrophy of adulthood A bulbospinal muscular atrophy that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult bulbospinal muscular atrophy|bulbospinal muscular atrophy of adults|bulbospinal muscular atrophy of adult ICD10:G12.2|Orphanet:206707 owl:Class GO:1904427 biolink:NamedThing positive regulation of calcium ion transmembrane transport Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl upregulation of calcium ion transmembrane transport|upregulation of calcium ion membrane transport|up-regulation of transmembrane calcium transport|up regulation of calcium ion transmembrane transport|up regulation of calcium ion membrane transport|activation of transmembrane calcium transport|positive regulation of transmembrane calcium transport|positive regulation of calcium ion membrane transport|up regulation of transmembrane calcium transport|upregulation of transmembrane calcium transport|activation of calcium ion membrane transport|activation of calcium ion transmembrane transport|up-regulation of calcium ion membrane transport|up-regulation of calcium ion transmembrane transport owl:Class GO:1903169 biolink:NamedThing regulation of calcium ion transmembrane transport Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl regulation of transmembrane calcium transport|regulation of calcium ion membrane transport owl:Class GO:1903565 biolink:NamedThing negative regulation of protein localization to cilium Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. tmpte7i6ely_mondo_relaxed.owl inhibition of protein localization to cilium|down regulation of protein localization to cilium|downregulation of protein localization to cilium|down-regulation of protein localization to cilium owl:Class MONDO:0019934 biolink:NamedThing polyploidy The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. tmpte7i6ely_mondo_relaxed.owl ICD10:Q92.7|MESH:D011123|SCTID:72991005|Orphanet:96321 owl:Class MONDO:0024276 biolink:NamedThing glandular cell neoplasm tmpte7i6ely_mondo_relaxed.owl glandular cell epithelium neoplasm|glandular cell tumor|glandular cell epithelial neoplasm|glandular cell neoplasm UMLS:C1333820|HP:0031493|NCIT:C7132 owl:Class MONDO:0029138 biolink:NamedThing developmental and epileptic encephalopathy, 67 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 67|DEE67|EIEE67 OMIM:618141 owl:Class MONDO:0000497 biolink:NamedThing pyometritis Inflammation of uterine musculature associated with pus in the uterine cavity. tmpte7i6ely_mondo_relaxed.owl inflammation of myometrium|myometrium inflammation|pyometra UMLS:C0034215|DOID:0050862|MESH:D055112|NCIT:C121207|UMLS:C0686163|SCTID:88981003 owl:Class MONDO:0004292 biolink:NamedThing supraglottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx. tmpte7i6ely_mondo_relaxed.owl supraglottic part of larynx verrucous carcinoma|verrucous carcinoma of supraglottis|supraglottic verrucous carcinoma|verrucous carcinoma of the supraglottis|supraglottis verrucous carcinoma UMLS:C0280331|DOID:7586|NCIT:C8191 owl:Class MONDO:0006006 biolink:NamedThing verrucous carcinoma A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot. tmpte7i6ely_mondo_relaxed.owl verrucous epidermoid carcinoma|warty carcinoma|verrucous carcinoma NOS (morphologic abnormality)|verrucous squamous cell carcinoma|verrucous carcinoma|verrucous epidermoid cell carcinoma|verrucous squamous carcinoma NCIT:C3781|MESH:D018289|ICDO:8051/3|DOID:3737|ICD9:199.1|UMLS:C0206706|SCTID:403904009|EFO:0007535 owl:Class MONDO:0003629 biolink:NamedThing uterine corpus serous adenocarcinoma A serous adenocarcinoma that involves the uterine corpus. tmpte7i6ely_mondo_relaxed.owl uterine papillary serous carcinoma|uterine serous carcinoma/uterine papillary serous carcinoma|body of uterus serous adenocarcinoma ONCOTREE:USC|DOID:5750|UMLS:C1336921|NCIT:C27838 owl:Class UBERON:0004732 biolink:NamedThing segmental subdivision of nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003862 biolink:NamedThing melanotic psammomatous malignant peripheral nerve sheath tumor A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies. tmpte7i6ely_mondo_relaxed.owl melanocytic psammomatous MPNST|melanocytic psammomatous malignant peripheral nerve sheath tumor|melanotic psammomatous malignant peripheral nerve sheath tumor DOID:6344|NCIT:C6910|UMLS:C1513101 owl:Class MONDO:0003863 biolink:NamedThing malignant melanocytic neoplasm of the peripheral nerve sheath A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin. tmpte7i6ely_mondo_relaxed.owl melanotic malignant peripheral nerve sheath tumor|melanocytic MPNST|malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of peripheral nerve sheath|malignant melanotic peripheral nerve sheath tumor|melanotic malignant nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|melanotic malignant peripheral nerve sheath tumour|malignant melanocytic peripheral nerve sheath tumor NCIT:C4748|DOID:6345|ICD9:171.9|SCTID:404039004|UMLS:C0474847 owl:Class NCBITaxon:4858 biolink:NamedThing Basidiobolaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003903 biolink:NamedThing benign vaginal mixed tumor A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl benign vaginal mixed tumor|vaginal spindle cell epithelioma UMLS:C1511107|NCIT:C40280|DOID:6505 owl:Class MONDO:0001731 biolink:NamedThing benign vaginal mixed epithelial and mesenchymal neoplasm A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. tmpte7i6ely_mondo_relaxed.owl benign vaginal mixed epithelial and mesenchymal tumor|benign vaginal mixed epithelial and mesenchymal neoplasm|benign vaginal carcinosarcoma NCIT:C40275|DOID:135|UMLS:C1511106 owl:Class MONDO:0009066 biolink:NamedThing juvenile nephropathic cystinosis Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. tmpte7i6ely_mondo_relaxed.owl cystinosis, intermediate|intermediate cystinosis|juvenile cystinosis|cystinosis, late-onset juvenile or adolescent nephropathic type|juvenile nephropathic cystinosis Orphanet:411634|ICD10:E72.0+|OMIM:219900|Orphanet:213|EFO:0009049|ICD10:N16.3*|MESH:C562683|SCTID:22830006|UMLS:C0268626 owl:Class MONDO:0030922 biolink:NamedThing intellectual disability, autosomal dominant 56 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 56|MRD56|intellectual disability, autosomal dominant 56|autosomal dominant intellectual disability 56|autosomal dominant mental retardation 56 DOID:0080226|UMLS:CN787270|OMIM:617854|Orphanet:178469 owl:Class NCBITaxon:7371 biolink:NamedThing Calliphoridae tmpte7i6ely_mondo_relaxed.owl blow flly|bottle flies|blowflies|blow-fly|blow flies|blowflly GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011241 biolink:NamedThing ethmoid region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1630 biolink:NamedThing CD151 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005469 biolink:NamedThing orthostatic hypotension Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. tmpte7i6ely_mondo_relaxed.owl orthostatic hypotension (disease)|orthostatic hypotension orthostatic hypotension (disease) NCIT:C84970|ICD9:458.0|HP:0001278|EFO:0005252|SCTID:28651003 owl:Class MONDO:0005468 biolink:NamedThing hypotensive disorder Blood pressure that is abnormally low. tmpte7i6ely_mondo_relaxed.owl hypotension|hypotension (disease) ICD9:458|EFO:0005251|ICD9:458.9|NCIT:C3128|HP:0002615|SCTID:45007003|ICD9:458.8|MESH:D007022 owl:Class MONDO:0005578 biolink:NamedThing arthritic joint disease An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. tmpte7i6ely_mondo_relaxed.owl arthritis|inflammation of skeletal joint|skeletal joint inflammation|inflammatory disorder of joint EFO:0005856|NCIT:C2883|ICD10:M19.90|SCTID:3723001|Wikipedia:Arthritis|MESH:D001168|DOID:848|UMLS:C0003864 Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. owl:Class MONDO:0009565 biolink:NamedThing microcephaly-glomerulonephritis-marfanoid habitus syndrome This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. tmpte7i6ely_mondo_relaxed.owl microcephaly glomerulonephritis Marfanoid habitus|MARFANOID habitus with microcephaly and glomerulonephritis UMLS:C1855348|GARD:0003615|Orphanet:2172|MESH:C565411|ICD10:Q87.8|OMIM:248760 https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus owl:Class MONDO:0001436 biolink:NamedThing hemosiderosis Accumulation of iron in internal organs. tmpte7i6ely_mondo_relaxed.owl haemosiderosis MESH:D006486|GARD:0006595|NCIT:C82892|SCTID:39011001|DOID:12119|UMLS:C0019114 https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis owl:Class MONDO:0018646 biolink:NamedThing sclerosing cholangitis A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. tmpte7i6ely_mondo_relaxed.owl fibrosing cholangitis|sclerosing cholangitis|Primary sclerosing cholangitis|primary sclerosing cholangitis (PSC)|sclerosing cholangitis (disease) sclerosing cholangitis (disease) SCTID:235917005|DOID:14268|UMLS:C0008313|UMLS:C0566602|EFO:0004268|NCIT:C4828|HP:0030991|Orphanet:447771|ICD10:K83.0 owl:Class MONDO:0014464 biolink:NamedThing progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. tmpte7i6ely_mondo_relaxed.owl DECR deficiency with hyperlysinemia|DECRD|2,4-alpha dienoyl-CoA reductase deficiency|dienoyl-CoA reductase deficiency|2,4-dienoyl-CoA reductase deficiency|progressive encephalopathy with leukodystrophy due to DECR deficiency ICD10:G31.8|Orphanet:431361|OMIM:616034|GARD:0010327|MESH:C565624|UMLS:C1857252 owl:Class MONDO:0002782 biolink:NamedThing cranial nerve palsy Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. tmpte7i6ely_mondo_relaxed.owl cranial nerve palsies|cranial nerve palsy|cranial nerve paralysis NCIT:C26941|DOID:3817|MESH:D003389|UMLS:C0151311|SCTID:73013002 owl:Class OBO:CHR_9606-chr13q biolink:NamedThing 13q (Human) tmpte7i6ely_mondo_relaxed.owl 114364328 17700000 hg38 owl:Class HP:0100659 biolink:NamedThing Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebral vasculature|Abnormality of the cerebral blood vessels UMLS:C4022001 doelkens 2010-12-30T11:39:15Z human_phenotype owl:Class HGNC:23785 biolink:NamedThing PIKFYVE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003187 biolink:NamedThing Bartholin gland adenoid cystic carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns. tmpte7i6ely_mondo_relaxed.owl Bartholin's gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma|major vestibular gland adenoid cystic carcinoma DOID:4879|NCIT:C40295|UMLS:C1511047 owl:Class MONDO:0011874 biolink:NamedThing neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. tmpte7i6ely_mondo_relaxed.owl IHSC|Nisch syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|Ilvasc|ichthyosis-sclerosing cholangitis syndrome|ILVASC|neonatal ichthyosis-sclerosing cholangitis syndrome|NISCH syndrome Orphanet:59303|OMIM:607626|GARD:0010583|SCTID:724278007|MESH:C564365|UMLS:C1843355 owl:Class MONDO:0015898 biolink:NamedThing adrenogenital syndrome Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children. tmpte7i6ely_mondo_relaxed.owl congenital adrenal hyperplasia|adrenogenital disorder|androgenital syndrome|adrenogenital syndrome SCTID:267395000|Orphanet:181412|UMLS:C0302280|ICD9:255.2|MedDRA:10061630|MESH:D047808|UMLS:C0701163|UMLS:CN200506 owl:Class UBERON:0015054 biolink:NamedThing iliac endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005179 biolink:NamedThing pelvic region element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000283 biolink:NamedThing negative regulation of cellular amino acid biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular amino acid anabolism|negative regulation of cellular amino acid synthesis|negative regulation of cellular amino acid biosynthesis|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid formation owl:Class GO:2000282 biolink:NamedThing regulation of cellular amino acid biosynthetic process Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of amino acid biosynthetic process|regulation of cellular amino acid biosynthesis|regulation of cellular amino acid formation|regulation of cellular amino acid synthesis|regulation of cellular amino acid anabolism owl:Class MONDO:0006854 biolink:NamedThing mesenchymoma A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpte7i6ely_mondo_relaxed.owl mesenchymoma EFO:1001042|ICDO:8990/1|UMLS:C0025464|NCIT:C3233|DOID:2668|MESH:D008637 owl:Class HGNC:4075 biolink:NamedThing GABRA1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:207598 biolink:NamedThing Homininae tmpte7i6ely_mondo_relaxed.owl Homo/Pan/Gorilla group GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9604 biolink:NamedThing Hominidae tmpte7i6ely_mondo_relaxed.owl great apes|Pongidae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024636 biolink:NamedThing inflammation of heart layer An inflammatory disease involving a pathogenic inflammatory response in the heart layer. tmpte7i6ely_mondo_relaxed.owl heart layer inflammation|carditis SCTID:399617002|ICD9:429.89 owl:Class GO:0010888 biolink:NamedThing negative regulation of lipid storage Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011846 biolink:NamedThing bulimia nervosa, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl bulimia nervosa, susceptibility to|anorexia nervosa, susceptibility to, 2|bulimia nervosa, susceptibility to, 1|BN|BULN|susceptibility to bulimia nervosa 2|BULN2|bulimia nervosa, susceptibility to, 2|bulimia nervosa, susceptibility to, type 2|BULN1 OMIM:607499|UMLS:CN244558 owl:Class MONDO:0003386 biolink:NamedThing bladder clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. tmpte7i6ely_mondo_relaxed.owl urinary bladder clear cell adenocarcinoma|clear cell adenocarcinoma of urinary bladder|clear cell adenocarcinoma of the bladder|clear cell adenocarcinoma of the urinary bladder|clear cell adenocarcinoma of bladder|bladder mesonephric adenocarcinoma|bladder clear cell adenocarcinoma DOID:5306|UMLS:C1332557|NCIT:C6179 owl:Class MONDO:0005004 biolink:NamedThing clear cell adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. tmpte7i6ely_mondo_relaxed.owl clear cell adenocarcinoma NOS (morphologic abnormality)|mesonephroma NOS (morphologic abnormality)|water-clear cell carcinoma|mesonephroma, malignant (morphologic abnormality)|malignant Mesonephroma|Wolffian duct neoplasm|clear cell carcinoma|clear cell adenocarcinoma|clear cell adenocarcinoma (morphologic abnormality)|mesonephroid clear cell carcinoma|mesonephroid clear cell adenocarcinoma|water-clear cell adenocarcinoma|mesonephroma, malignant|water-clear cell adenocarcinoma (morphologic abnormality)|adenocarcinoma, clear cell, malignant ICDO:8310/3|DOID:4468|EFO:0000348|MESH:D018262|UMLS:C0206681|NCIT:C36815|NCIT:C3766|NCIT:C4072 owl:Class MONDO:0013519 biolink:NamedThing dyskeratosis congenita, autosomal recessive 2 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. tmpte7i6ely_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 2|dyskeratosis congenita, autosomal recessive type 2|autosomal recessive dyskeratosis congenita 2|DKCB2 OMIM:613987|DOID:0070017|UMLS:C3151441|Orphanet:1775 owl:Class MONDO:0007893 biolink:NamedThing Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. tmpte7i6ely_mondo_relaxed.owl Noonan syndrome with multiple lentigines|Cardiomyopathic lentiginosis|lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|familial multiple lentigines syndrome|lentiginosis profusa syndrome|progressive cardiomyopathic lentiginosis|Moynahan syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|generalized lentiginosis|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome|Gorlin syndrome II|LEOPARD syndrome OMIM:613707|Orphanet:500|GARD:0001100|SCTID:111306001|UMLS:CN074218|DOID:14291|NCIT:C84820|OMIMPS:151100|ICD9:709.09|MESH:D044542|OMIM:611554|UMLS:C0175704|MedDRA:10062901|ICD10:Q87.1 owl:Class UBERON:0003826 biolink:NamedThing upper leg bone tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002709 biolink:NamedThing regulation of T cell mediated immunity Any process that modulates the frequency, rate, or extent of T cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl regulation of T-lymphocyte mediated immunity|regulation of T-cell mediated immunity|regulation of T lymphocyte mediated immunity owl:Class CL:0002491 biolink:NamedThing auditory epithelial cell A specialized cell involved in auditory sensory perception. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-12-06T03:18:43Z cell owl:Class CL:0000098 biolink:NamedThing sensory epithelial cell A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells. tmpte7i6ely_mondo_relaxed.owl neuroepithelial cell BTO:0004301 The term "neuroepithelial cell" is used to describe both this cell type and neurecto-epithelial cell (CL:0000710). cell owl:Class HGNC:14202 biolink:NamedThing JPH2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003054 biolink:NamedThing roof plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000119 biolink:NamedThing cell layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100013 biolink:NamedThing paratenonitis with tendinosis Paratenonitis associated with intratendinous degeneration. tmpte7i6ely_mondo_relaxed.owl 2018-07-17 16:02:57+00:00 owl:Class MONDO:0100012 biolink:NamedThing paratenonitis Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium. tmpte7i6ely_mondo_relaxed.owl 2018-07-17 16:02:16+00:00 owl:Class MONDO:0014893 biolink:NamedThing Okur-Chung neurodevelopmental syndrome tmpte7i6ely_mondo_relaxed.owl Okur-Chung neurodevelopmental syndrome; OCNDS|OCNDS|Okur-Chung neurodevelopmental syndrome OMIM:617062|UMLS:C4310739 owl:Class MONDO:0008921 biolink:NamedThing carnosinemia Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. tmpte7i6ely_mondo_relaxed.owl Carnosinase deficiency|carnosinemia|homocarnosinosis UMLS:C3495555|OMIM:212200|Orphanet:1361|UMLS:C0268632|ICD10:E70.8|NCIT:C125661|GARD:0006001|SCTID:410052008|UMLS:C3495554 owl:Class MONDO:0009351 biolink:NamedThing homocarnosinosis Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Homocarnosinase deficiency|homocarnosinosis DOID:0060177|OMIM:236130|ICD10:E72.8|MESH:C535328|ICD9:277.89|SCTID:61764000|UMLS:C0268632|Orphanet:2168|UMLS:C3495554|GARD:0002730 owl:Class MONDO:0022481 biolink:NamedThing APO A-i deficiency tmpte7i6ely_mondo_relaxed.owl GARD:0000758 https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency owl:Class GO:0010628 biolink:NamedThing positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011625 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 18 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 18|autosomal dominant nonsyndromic deafness 18|DFNA18|autosomal dominant nonsyndromic deafness type 18|deafness, autosomal dominant 18 OMIM:606012|UMLS:C1853760|ICD10:H90.3|Orphanet:90635|MESH:C565267|DOID:0110549 owl:Class HGNC:719 biolink:NamedThing ARSL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044343 biolink:NamedThing cervical disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the cervical spine. tmpte7i6ely_mondo_relaxed.owl cervical Disc degenerative disease|intervertebral disc degenerative disorder of cervical region of vertebral column|cervical Disc degenerative disorder|cervical region of vertebral column intervertebral disc degenerative disorder|cervical Disc Degeneration|degeneration of cervical intervertebral disc NCIT:C27156|SCTID:69195002|UMLS:C0158262|UMLS:C0410606 owl:Class UBERON:0015152 biolink:NamedThing gland of ocular region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021660 biolink:NamedThing deep seated dermatophytosis A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. tmpte7i6ely_mondo_relaxed.owl deep seated dermatophytosis|deep dermatophytosis|disseminated granulomatous dermatophytosis NCIT:C35073|Orphanet:397587|ICD10:B35.8|UMLS:C1395264 owl:Class NCBITaxon:5763 biolink:NamedThing Naegleria fowleri tmpte7i6ely_mondo_relaxed.owl brain-eating amoeba GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009491 biolink:NamedThing Haim-Munk syndrome Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|Haim-Munk syndrome|HMS|keratosis palmoplantaris with periodontopathia and onychogryposis|Cochin Jewish disorder|HAIM-Munk syndrome|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome MESH:C537627|OMIM:245010|UMLS:C1855627|Orphanet:2342|SCTID:719973009|ICD10:Q82.8|GARD:0000044 https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome owl:Class MONDO:0030883 biolink:NamedThing carpal tunnel syndrome 2 tmpte7i6ely_mondo_relaxed.owl CTS2|carpal tunnel syndrome 2 OMIM:619161 owl:Class MONDO:0007275 biolink:NamedThing carpal tunnel syndrome Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. tmpte7i6ely_mondo_relaxed.owl amyotrophy, thenar, of carpal origin|carpal tunnel median neuropathy|CTS|carpal tunnel syndrome|median nerve entrapment|CTS - carpal tunnel syndrome NCIT:C34450|ICD10:G56.0|ICD10:G56.00|SCTID:57406009|EFO:0004143|ICD9:354.0|DOID:12169|MESH:D002349|UMLS:C0007286|OMIM:115430|OMIMPS:115430|OMIM:613353|Orphanet:50838 owl:Class HGNC:2665 biolink:NamedThing CD55 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024685 biolink:NamedThing Philadelphia-positive myelogenous leukemia tmpte7i6ely_mondo_relaxed.owl Ph1-positive myelocytic leukemia|Philadelphia-positive myelocytic leukemia|Ph1-positive myeloid leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive granulocytic leukemia|Philadelphia-positive myeloid leukemia|Ph1-positive granulocytic leukemia|Philadelphia-positive myelogenous leukemia UMLS:C0023476|NCIT:C3177 owl:Class UBERON:0012359 biolink:NamedThing pedal digitopodium bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6530 biolink:NamedThing LCT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001972 biolink:NamedThing Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain. tmpte7i6ely_mondo_relaxed.owl SCTID:427999003|UMLS:C0302362|ICD9:023.0|DOID:14456|ICD10:A23.0 owl:Class MONDO:0005683 biolink:NamedThing brucellosis Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. tmpte7i6ely_mondo_relaxed.owl Cyprus fever|Malta fever|Maltese fever|undulant fever|Mediterranean fever|Gibraltar fever|Rock fever|bang's disease EFO:0007185|Orphanet:1304|DOID:11077|SCTID:75702008|UMLS:C0006309|ICD9:023|GARD:0005966|NCIT:C84602|MESH:D002006|ICD10:A23.0|ICD10:A23.1|ICD10:A23.9|ICD10:A23.8|ICD10:A23.2|MedDRA:10006500|ICD9:023.9|ICD10:A23.3|ICD10:A23 https://rarediseases.info.nih.gov/diseases/5966/brucellosis owl:Class MONDO:0032934 biolink:NamedThing genitourinary and/or brain malformation syndrome tmpte7i6ely_mondo_relaxed.owl GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME|genitourinary and/or brain malformation syndrome|GUBS OMIM:618820 owl:Class UBERON:0006544 biolink:NamedThing kidney vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018569 biolink:NamedThing X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. tmpte7i6ely_mondo_relaxed.owl Orphanet:435938|ICD10:Q87.8|UMLS:CN237580 owl:Class UBERON:5106052 biolink:NamedThing digit 5 digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5102544 biolink:NamedThing individual digit of digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6142 biolink:NamedThing ITGA6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013131 biolink:NamedThing polycystic kidney disease 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease, adult, type 2|polycystic kidney disease 2 with or without polycystic liver disease|polycystic kidney disease type 2|PKD2|APKD2|autosomal dominant polycystic kidney disease caused by mutation in PKD2|PKD2 autosomal dominant polycystic kidney disease|Autosomal dominant polycystic kidney disease type 2|polycystic kidney disease, adult, type II|polycystic kidney disease 2 DOID:0110859|Orphanet:730|OMIM:613095|SCTID:253879006|NCIT:C123166|UMLS:C2751306 owl:Class MONDO:0001905 biolink:NamedThing bicipital tenosynovitis tmpte7i6ely_mondo_relaxed.owl ICD9:726.12|UMLS:C0158304|SCTID:41137001|DOID:14192 owl:Class MONDO:0004855 biolink:NamedThing tenosynovitis Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. tmpte7i6ely_mondo_relaxed.owl Tenosynovitides|Inflammation of tendon sheath|inflammation of tendon sheath|tendon sheath inflammation SCTID:67801009|UMLS:C0039520|MESH:D013717|EFO:1001435|DOID:970 owl:Class GO:0031340 biolink:NamedThing positive regulation of vesicle fusion Any process that activates or increases the frequency, rate or extent of vesicle fusion. tmpte7i6ely_mondo_relaxed.owl up regulation of vesicle fusion|stimulation of vesicle fusion|upregulation of vesicle fusion|up-regulation of vesicle fusion|activation of vesicle fusion owl:Class GO:0031338 biolink:NamedThing regulation of vesicle fusion Any process that modulates the frequency, rate or extent of vesicle fusion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044203 biolink:NamedThing foveal hypoplasia tmpte7i6ely_mondo_relaxed.owl FVH OMIMPS:136520 owl:Class MONDO:0014681 biolink:NamedThing thyroid cancer, nonmedullary, 4 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene. tmpte7i6ely_mondo_relaxed.owl FOXE1 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, type 4|thyroid cancer, nonmedullary caused by mutation in FOXE1|thyroid cancer, nonmedullary, 4|NMTC4 UMLS:C4225293|OMIM:616534|Orphanet:319487 owl:Class MONDO:0017896 biolink:NamedThing familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. tmpte7i6ely_mondo_relaxed.owl thyroid cancer, nonmedullary Orphanet:319494|UMLS:C3501843|UMLS:CN227216|OMIMPS:188550|ICD10:C73 Note the OMIM phenotypic series lacks a member classified by ORDO owl:Class MONDO:0100428 biolink:NamedThing progressive bulbar palsy of childhood A progressive bulbar palsy of childhood that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl Fazio-Londe disease DOID:0080632|OMIM:211500|SCTID:230246005|UMLS:C0393540|Orphanet:56965 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/127 owl:Class MONDO:0008890 biolink:NamedThing progressive bulbar palsy Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms. tmpte7i6ely_mondo_relaxed.owl progressive bulbar atrophy|Fazio-Londe disease|bulbar palsy, progressive, of childhood EFO:0003783|ICD9:335.22|GARD:0010928|OMIM:211500|MESH:D010244|UMLS:C0030442|NCIT:C85026|SCTID:54304004|ICD10:G12.22|DOID:681|Orphanet:56965 https://github.com/monarch-initiative/mondo/issues/127|https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy owl:Class MONDO:0009152 biolink:NamedThing ectopia lentis 2, isolated, autosomal recessive An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. tmpte7i6ely_mondo_relaxed.owl ectopia lentis 2, isolated, autosomal recessive|ECTOL2|ectopia lentis, isolated autosomal recessive|autosomal recessive isolated ectopia lentis 2|autosomal recessive isolated ectopia lentis UMLS:C3541474|Orphanet:1885|GARD:0002060|OMIM:225100|DOID:0111149 owl:Class GO:1902721 biolink:NamedThing negative regulation of prolactin secretion Any process that stops, prevents or reduces the frequency, rate or extent of prolactin secretion. tmpte7i6ely_mondo_relaxed.owl down-regulation of prolactin secretion|inhibition of prolactin secretion|downregulation of prolactin secretion|down regulation of prolactin secretion owl:Class MONDO:0022977 biolink:NamedThing diaphragmatic hernia exomphalos corpus callosum agenesis tmpte7i6ely_mondo_relaxed.owl GARD:0001846 https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis owl:Class MONDO:0017029 biolink:NamedThing Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis that occurs during adulthood. tmpte7i6ely_mondo_relaxed.owl Langerhans cell granulomatosis specific to adulthood|adult Langerhans cell histiocytosis|Langerhans cell histiocytosis|histiocytosis X specific to adulthood NCIT:C114929|Orphanet:264750|UMLS:C3900100 owl:Class MONDO:0017026 biolink:NamedThing interstitial lung disease specific to adulthood tmpte7i6ely_mondo_relaxed.owl ILD specific to adulthood UMLS:CN202338|Orphanet:264735 owl:Class MONDO:0009847 biolink:NamedThing pericardial effusion, chronic Chronic form of pericardial effusion (disease). tmpte7i6ely_mondo_relaxed.owl cholesterol pericarditis|pericardial effusion, chronic|chronic pericardial effusion (disease)|pericardial effusion (disease), chronic UMLS:C1850039|MESH:C564895|OMIM:260900 owl:Class MONDO:0001370 biolink:NamedThing pericardial effusion Fluid collection within the pericardial sac, usually due to inflammation. tmpte7i6ely_mondo_relaxed.owl pericardial fluid|pericardial effusion (disease)|pericardial effusion|fluid, pericardial pericardial effusion (disease) DOID:118|NCIT:C3319|UMLS:C0031039|HP:0001698|SCTID:373945007 owl:Class MONDO:0013452 biolink:NamedThing multisystemic smooth muscle dysfunction syndrome Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. tmpte7i6ely_mondo_relaxed.owl multisystemic smooth muscle dysfunction syndrome|mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834|GARD:0012811|UMLS:C3151201|Orphanet:404463|ICD10:I73.8 https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome owl:Class HGNC:6762 biolink:NamedThing MAD1L1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14335 biolink:NamedThing PLEKHA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044319 biolink:NamedThing intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}). tmpte7i6ely_mondo_relaxed.owl IDDFSDA|intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies Orphanet:505237|OMIM:617452|UMLS:C4479520 owl:Class HGNC:2336 biolink:NamedThing CR2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905038 biolink:NamedThing regulation of membrane lipid metabolic process Any process that modulates the frequency, rate or extent of membrane lipid metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of membrane lipid metabolism owl:Class UBERON:0013753 biolink:NamedThing distal epiphysis of metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004379 biolink:NamedThing distal epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006035 biolink:NamedThing gastric tubular adenocarcinoma A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. tmpte7i6ely_mondo_relaxed.owl gastric tubular adenocarcinoma|stomach tubular adenocarcinoma|tubular stomach adenocarcinoma|tubular adenocarcinoma of the stomach|tubular adenocarcinoma of stomach NCIT:C5473|ONCOTREE:TSTAD|DOID:6595|EFO:1000030|UMLS:C1333791 owl:Class MONDO:0005036 biolink:NamedThing gastric adenocarcinoma A carcinoma that arises from glandular epithelial cells of the stomach tmpte7i6ely_mondo_relaxed.owl STAD|adenocarcinoma of the stomach|stomach adenocarcinoma|adenocarcinoma of stomach|gastric adenocarcinoma|gastric (stomach) adenocarcinoma|adenocarcinoma - stomach DOID:3717|NCIT:C4004|SCTID:408647009|UMLS:C0278701|Orphanet:464463|ONCOTREE:STAD|EFO:0000503 owl:Class GO:0090031 biolink:NamedThing positive regulation of steroid hormone biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14289 biolink:NamedThing NLGN3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004330 biolink:NamedThing leptomeningeal sarcoma A sarcoma arising from the leptomeninges. tmpte7i6ely_mondo_relaxed.owl sarcoma of leptomeninges|leptomeninges sarcoma|sarcoma of leptomeninx|sarcoma of the leptomeninges|leptomeningeal sarcoma|sarcoma, meningeal|sarcoma, leptomeningeal, malignant|leptomeninx sarcoma NCIT:C8312|UMLS:C1384416|DOID:7689 owl:Class MONDO:0004308 biolink:NamedThing meningeal sarcoma A rare sarcoma arising from the meninges. tmpte7i6ely_mondo_relaxed.owl meningeal sarcoma|sarcoma of meninges|sarcoma of meningeal cluster|meninges sarcoma|meningeal cluster sarcoma|sarcoma of the meninges DOID:7614|NCIT:C4073|UMLS:C0302327 owl:Class NCBITaxon:103826 biolink:NamedThing Thelazia tmpte7i6ely_mondo_relaxed.owl eyeworms GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:103828 biolink:NamedThing Thelaziidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004905 biolink:NamedThing intestinal disaccharidase deficiency Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. tmpte7i6ely_mondo_relaxed.owl intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption DOID:9868|ICD9:271.3|EFO:1000060|NCIT:C34731|SCTID:22169002 MONDO:0006062 owl:Class MONDO:0001330 biolink:NamedThing presbyopia The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. tmpte7i6ely_mondo_relaxed.owl ICD10:H52.4|ICD9:367.4|DOID:11638|MESH:D011305|SCTID:41256004|UMLS:C0033075 owl:Class UBERON:0004251 biolink:NamedThing hindlimb zeugopod bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001834 biolink:NamedThing visual pathway disorder A disorder of the neural pathway from the optic nerve to the visual cortex. tmpte7i6ely_mondo_relaxed.owl disease of optic tract|optic tract disease|optic tract disease or disorder|disorder of optic tract|disease or disorder of optic tract|visual pathway disorder|optic tract disorder UMLS:C0155287|ICD10:H47.9|NCIT:C35342|DOID:1393|SCTID:54767005|SCTID:95776004 Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract owl:Class MONDO:0020307 biolink:NamedThing benign childhood occipital epilepsy, Panayiotopoulos type Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. tmpte7i6ely_mondo_relaxed.owl early-onset benign childhood occipital epilepsy|Panayiotopoulos syndrome SCTID:230387008|Orphanet:98815|ICD9:345.80|ICD10:G40.0|UMLS:CN207127 owl:Class MONDO:0007558 biolink:NamedThing benign occipital epilepsy Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. tmpte7i6ely_mondo_relaxed.owl epilepsy, benign occipital|BOE OMIM:132090|Orphanet:25968|ICD10:G40.0|UMLS:C1851549|GARD:0002170 https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital owl:Class UBERON:0005460 biolink:NamedThing left vitelline vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015353 biolink:NamedThing neuronopathy, distal hereditary motor, type 5A tmpte7i6ely_mondo_relaxed.owl neuropathy, distal hereditary motor, type 5A|distal hereditary motor neuropathy type V|spinal muscular atrophy, distal, type 5|spinal muscular atrophy, distal, type 5A|spinal muscular atrophy, distal, with upper limb predominance|distal spinal muscular atrophy type 5|neuronopathy, distal hereditary motor, type VA|distal HMN V|dHMN5|neuronopathy, distal hereditary motor, type 5A|HMN5A|HMN 5A|dHMN 5A|neuronopathy, distal hereditary motor, type 5 OMIM:600794|UMLS:C1833308|Orphanet:139536|DOID:0111204|ICD10:G12.2 owl:Class MONDO:0100350 biolink:NamedThing neuronopathy, distal hereditary motor, type 5 tmpte7i6ely_mondo_relaxed.owl distal hereditary motor neuropathy type V|dHMN5|distal spinal muscular atrophy type 5|distal HMN V Orphanet:139536 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009932 biolink:NamedThing pulmonary bullae causing pneumothorax tmpte7i6ely_mondo_relaxed.owl pulmonary bullae causing pneumothorax OMIM:265200|UMLS:C1849566|MESH:C564863 owl:Class MONDO:0022608 biolink:NamedThing brittle bone syndrome lethal type tmpte7i6ely_mondo_relaxed.owl GARD:0001018 https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type owl:Class MONDO:0013340 biolink:NamedThing Parkinson disease 5, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. tmpte7i6ely_mondo_relaxed.owl Parkinson disease 5, autosomal dominant, susceptibility to|PARK5|UCHL1 young-onset Parkinson disease|young-onset Parkinson disease caused by mutation in UCHL1|susceptibility to autosomal dominant Parkinson disease 5 OMIM:613643|Orphanet:2828|UMLS:C3150899 owl:Class MONDO:0004305 biolink:NamedThing parathyroid oncocytic adenoma A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. tmpte7i6ely_mondo_relaxed.owl parathyroid gland oncocytic adenoma|parathyroid oncocytic adenoma NCIT:C27393|UMLS:C1335351|DOID:7611 owl:Class MONDO:0003424 biolink:NamedThing oncocytic adenoma A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. tmpte7i6ely_mondo_relaxed.owl oxyphilic adenoma|oncocytoma|follicular adenoma, oxyphilic cell|oncocytic adenoma EFO:1001079|DOID:5389|ICDO:8290/0|UMLS:C1510502|NCIT:C3759 owl:Class MONDO:0004973 biolink:NamedThing adenosquamous lung carcinoma An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. tmpte7i6ely_mondo_relaxed.owl lung adenosquamous carcinoma|adenosquamous lung carcinoma|adenosquamous lung cancer|adenosquamous cell lung carcinoma EFO:0000233|UMLS:C0279557|DOID:4829|ONCOTREE:LUAS|NCIT:C9133|ICD9:162.9|SCTID:707405009 owl:Class HGNC:6893 biolink:NamedThing MAPT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000346 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type tmpte7i6ely_mondo_relaxed.owl Balkan hemorrhagic fever DOID:0050522 owl:Class MONDO:0016521 biolink:NamedThing muscular pseudohypertrophy-hypothyroidism syndrome Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. tmpte7i6ely_mondo_relaxed.owl Kocher-DebrC)-Semelaigne syndrome|Hoffman syndrome|Kocher-Debré-Semelaigne syndrome Orphanet:2349|ICD10:E03.1|SCTID:716338001 owl:Class MONDO:0012557 biolink:NamedThing cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. tmpte7i6ely_mondo_relaxed.owl Mpcd|hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|mitochondrial phosphate carrier deficiency SCTID:718713000|UMLS:C1835845|UMLS:C4305259|OMIM:610773|ICD10:G71.3|Orphanet:91130|MESH:C563665 owl:Class MONDO:0006040 biolink:NamedThing lactic acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. tmpte7i6ely_mondo_relaxed.owl MESH:D000140|UMLS:C0001125|SCTID:91273001|NCIT:C98969 owl:Class UBERON:4000020 biolink:NamedThing mineralized extracellular matrix tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037735 biolink:NamedThing sebaceous gland cancer A cancer that involves the sebaceous gland. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the sebaceous gland|malignant sebaceous gland tumor|malignant neoplasm of sebaceous gland|malignant tumor of sebaceous gland|malignant sebaceous neoplasm|malignant sebaceous gland neoplasm|malignant neoplasm of the sebaceous gland|malignant sebaceous tumor|cancer of sebaceous gland NCIT:C8409|UMLS:C1382026 owl:Class MONDO:0002898 biolink:NamedThing skin cancer A malignant neoplasm involving the zone of skin tmpte7i6ely_mondo_relaxed.owl skin neoplasm, malignant|malignant neoplasm of skin|skin cancer|CA - skin cancer|malignant tumor of the skin|cancer of zone of skin|malignant neoplasm of the skin|malignant skin tumor|skin cancer, Including melanoma|zone of skin cancer|malignant zone of skin neoplasm|cancer of skin|melanoma and non-melanoma skin cancer|malignant neoplasm of zone of skin|malignant skin neoplasm|malignant tumor of skin ICD9:173.9|SCTID:372130007|ICD10:C43.C44|ICD9:173.8|DOID:4159|UMLS:C0007114|MESH:D012878|GARD:0010421|NCIT:C2920 owl:Class MONDO:0021657 biolink:NamedThing ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. tmpte7i6ely_mondo_relaxed.owl sex cord stromal tumor|sex cord-stromal tumor of ovary|Sex cord-stromal neoplasm of ovary|ovary sex cord-stromal tumor|Sex cord-stromal neoplasm of the ovary|Sex cord-stromal tumor of the ovary|ovarian Sex cord-stromal neoplasm|Sex cord-stromal tumor of ovary|ovarian Sex cord-stromal tumor|ovarian sex cord tumor with annular tubules ONCOTREE:SCST|UMLS:C0600113|GARD:0012285|NCIT:C4862|EFO:1000430|DOID:0080369 owl:Class GO:0033007 biolink:NamedThing negative regulation of mast cell activation involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response. tmpte7i6ely_mondo_relaxed.owl negative regulation of mast cell activation during immune response owl:Class GO:0033004 biolink:NamedThing negative regulation of mast cell activation Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002978 biolink:NamedThing orbit alveolar rhabdomyosarcoma A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma. tmpte7i6ely_mondo_relaxed.owl alveolar rhabdomyosarcoma of orbit|alveolar rhabdomyosarcoma of the orbit DOID:4384|UMLS:C1335126|NCIT:C6247 owl:Class MONDO:0002580 biolink:NamedThing orbit rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma of the orbit|rhabdomyosarcoma of orbit|orbital region rhabdomyosarcoma (disease)|orbital region rhabdomyosarcoma|rhabdomyosarcoma (disease) of orbital region UMLS:C0346347|DOID:3259|NCIT:C4543|SCTID:254994000|MESH:C537605 owl:Class MONDO:0005532 biolink:NamedThing Crohn's colitis Crohn's disease affecting the colon. tmpte7i6ely_mondo_relaxed.owl Crohn colitis ICD10:K50.1|DOID:0060192|EFO:0005622|SCTID:7620006|ICD9:555.1|NCIT:C35211 owl:Class UBERON:0002460 biolink:NamedThing vesical vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4218 biolink:NamedThing GDF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009914 biolink:NamedThing pseudodiastrophic dysplasia Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. tmpte7i6ely_mondo_relaxed.owl pseudodiastrophic dysplasia|Pseudodiastrophic dwarfism UMLS:C0432206|OMIM:264180|GARD:0009463|ICD9:756.9|ICD10:Q78.8|SCTID:254058002|MESH:C535826|Orphanet:85174 https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia owl:Class MONDO:0004665 biolink:NamedThing nodular sclerosis classical Hodgkin lymphoma A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) tmpte7i6ely_mondo_relaxed.owl Hodgkin's disease nodular sclerosis|nodular sclerosis Hodgkin's lymphoma|Hodgkin lymphoma, nodular sclerosis|nodular sclerosis Hodgkin's disease|classical Hodgkin lymphoma, nodular sclerosis|NSHL|Hodgkin's lymphoma, nodular sclerosis|nodular sclerosis Hodgkin lymphoma|Hodgkin's disease, nodular sclerosis|Hodgkin's nodular sclerosis|nodular sclerosis classical Hodgkin lymphoma|nodular sclerosis Classic Hodgkin lymphoma|NSHD|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|Hodgkin's disease, nodular sclerosis of unspecified site|NSCHL ICD10:C81.1|ICD9:201.5|NCIT:C3518|DOID:8838|SCTID:118608000|ONCOTREE:NSCHL|ICDO:9663/3|EFO:0004708 owl:Class MONDO:0009348 biolink:NamedThing classic Hodgkin lymphoma Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. tmpte7i6ely_mondo_relaxed.owl Hodgkin disease|classical Hodgkin lymphoma|Chl|classical Hodgkin's lymphoma|lymphoma, Hodgkin, classic|classic Hodgkin disease ICD10:C81.2|NCIT:C7164|OMIM:300221|ICD10:C81.1|ICD10:C81.7|Orphanet:391|ONCOTREE:CHL|OMIM:236000|ICD10:C81.3|ICD10:C81.4|ICD10:C81.0|OMIM:400021|ICD10:C81.9|UMLS:CN204952 owl:Class HGNC:30064 biolink:NamedThing PBRM1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7758 biolink:NamedThing NEU1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002178 biolink:NamedThing epithelial cell of stomach An epithelial cell found in the lining of the stomach. tmpte7i6ely_mondo_relaxed.owl FMA:62948 tmeehan 2010-08-25T03:22:08Z CL:1000399 cell owl:Class MONDO:0020747 biolink:NamedThing sitosterolemia 1 tmpte7i6ely_mondo_relaxed.owl STSL1|sitosterolemia 1 OMIM:210250 owl:Class MONDO:0008863 biolink:NamedThing sitosterolemia A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. tmpte7i6ely_mondo_relaxed.owl plant sterol storage disease|macrothrombocytopenia/stomatocytosis, Mediterranean|STSL|phytosterolemia|retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|sitosterolemia UMLS:C0342907|OMIMPS:215250|OMIM:210250|SCTID:238104009|MESH:C537345|GARD:0007653|MedDRA:10063985|DOID:0090019|ICD10:E78.0|NCIT:C125694|Orphanet:2882|OMIMPS:210250|Orphanet:101022 https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia owl:Class SO:0002343 biolink:NamedThing cytosolic_rRNA Cytosolic rRNA is an RNA component of the small or large subunits of cytosolic ribosomes. tmpte7i6ely_mondo_relaxed.owl cytosolic ribosomal RNA|cytosolic rRNA owl:Class SO:0000252 biolink:NamedThing rRNA rRNA is an RNA component of a ribosome that can provide both structural scaffolding and catalytic activity. tmpte7i6ely_mondo_relaxed.owl ribosomal ribonucleic acid|INSDC_qualifier:unknown|INSDC_feature:rRNA|ribosomal RNA owl:Class MONDO:0009910 biolink:NamedThing Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. tmpte7i6ely_mondo_relaxed.owl neonatal progeroid syndrome|Wiedemann Rautenstrauch syndrome|Wiedemann-Rautenstrauch syndrome|progeroid syndrome, neonatal|progeroid syndrome neonatal SCTID:238874008|Orphanet:3455|GARD:0000330|UMLS:C0406586|ICD10:E34.8|MESH:C536423|OMIM:264090|ICD9:259.8|NCIT:C121565 owl:Class MONDO:0001343 biolink:NamedThing impaired renal function disease Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. tmpte7i6ely_mondo_relaxed.owl kidney disease|disease of kidney ICD10:N25|DOID:11705|ICD9:588.9|ICD9:588.89|ICD9:588.8|SCTID:197663003 owl:Class MONDO:0024535 biolink:NamedThing Singleton-Merten syndrome 1 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. tmpte7i6ely_mondo_relaxed.owl IFIH1 singleton-Merten dysplasia|SGMRT1|singleton-Merten dysplasia caused by mutation in IFIH1|singleton-Merten syndrome 1 UMLS:C4225427|OMIM:182250|Orphanet:85191 owl:Class MONDO:0002359 biolink:NamedThing periosteal chondroma A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. tmpte7i6ely_mondo_relaxed.owl periosteal chondroma|juxtacortical chondroma (morphologic abnormality)|juxtacortical chondroma DOID:2601|NCIT:C4302|ICDO:9221/0|UMLS:C0334548 owl:Class MONDO:0002360 biolink:NamedThing chondroma A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. tmpte7i6ely_mondo_relaxed.owl central chondroma|chondroma|chondroma, benign DOID:2602|ICDO:9220/0|UMLS:C0936248|GARD:0006052|MESH:D002812|NCIT:C53459 https://rarediseases.info.nih.gov/diseases/6052/chondroma owl:Class HP:0031348 biolink:NamedThing Dextrotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. tmpte7i6ely_mondo_relaxed.owl D-loop transposition of the great arteries|D-TGA 2017-08-27 14:17:00+00:00 Fyler:700|Fyler:0700 peter human_phenotype owl:Class HP:0001669 biolink:NamedThing Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. tmpte7i6ely_mondo_relaxed.owl Transposition of great vessels SNOMEDCT_US:204296002|UMLS:C3536741|SNOMEDCT_US:26146002 human_phenotype owl:Class MONDO:0012624 biolink:NamedThing acyl-CoA dehydrogenase 9 deficiency A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl acyl-CoA dehydrogenase 9 deficiency|mitochondrial complex I deficiency due to ACAD9 deficiency|ACAD9 deficiency MESH:C567006|Orphanet:99901|SCTID:725046003|OMIM:611126|ICD10:E71.3|UMLS:C1970173 owl:Class MONDO:0019354 biolink:NamedThing Stickler syndrome Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). tmpte7i6ely_mondo_relaxed.owl Stickler syndrome|hereditary progressive arthroophthalmopathy OMIM:184840|OMIM:614284|Orphanet:828|ICD10:Q87.0|OMIM:604841|DOID:0080046|OMIMPS:108300|OMIM:614134|SCTID:78675000|NCIT:C74984|MedDRA:10063402|OMIM:609508|GARD:0010782|UMLS:C0265253|OMIM:108300|ICD9:759.89|MESH:C537492 Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome owl:Class CHEBI:35881 biolink:NamedThing pnictogen hydride tmpte7i6ely_mondo_relaxed.owl pnictogen hydride|pnictogen hydrides owl:Class MONDO:0010661 biolink:NamedThing severe X-linked intellectual disability, Gustavson type Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood. tmpte7i6ely_mondo_relaxed.owl intellectual disability with optic atrophy, deafness, and seizures|intellectual disability X-linked severe Gustavson type|gust|X-linked intellectual disability Gustavson type|mental retardation with optic atrophy, deafness, and seizures|mental retardation X-linked severe Gustavson type|Gustavson syndrome|X-linked mental retardation Gustavson type OMIM:309555|SCTID:722213009|GARD:0005611|UMLS:C0795965|MESH:C536759|Orphanet:3078|ICD10:F72.9 owl:Class HGNC:17109 biolink:NamedThing ADAMTS17 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002794 biolink:NamedThing adult medulloblastoma A medulloblastoma arising from the brain, occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult brain medulloblastoma|medulloblastoma|medulloblastoma of adults NCIT:C4011|UMLS:C0278876|UMLS:C1332188|DOID:3864|MESH:D008527 owl:Class MONDO:0003260 biolink:NamedThing adult cerebellar neoplasm A cerebellar neoplasm that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl tumor of the adult cerebellum|tumor of adult cerebellum|adult cerebellar neoplasms|neoplasm of the adult cerebellum|neoplasm of adult cerebellum|cerebellar neoplasm of adults|adult cerebellar tumors|adult cerebellar neoplasm|adult cerebellar tumor UMLS:C1332197|NCIT:C5968|DOID:5056 owl:Class MONDO:0003299 biolink:NamedThing colorectal leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl large bowel leiomyoma|leiomyoma of the large intestine|large intestine leiomyoma|leiomyoma of large bowel|leiomyoma of large intestine|colorectal leiomyoma|colorectum leiomyoma|leiomyoma of the large bowel DOID:5143|NCIT:C5677|UMLS:C1333113 owl:Class MONDO:0012815 biolink:NamedThing Coats plus syndrome Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. tmpte7i6ely_mondo_relaxed.owl cerebroretinal microangiopathy with calcfications and cysts|CRMCC|cerebroretinal microangiopathy with calcifications and cysts Orphanet:313838|OMIMPS:612199|OMIM:617341|ICD9:348.89|UMLS:CN282828|OMIM:612199|MESH:C567401|SCTID:711482008|ICD10:H35.0 owl:Class HGNC:4172 biolink:NamedThing GATA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003909 biolink:NamedThing Bartholin gland adenomyoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. tmpte7i6ely_mondo_relaxed.owl adenomyoma of major vestibular gland|Bartholin gland adenomyoma|major vestibular gland adenomyoma DOID:6518|UMLS:C1511049|NCIT:C40300 owl:Class HGNC:10535 biolink:NamedThing SAR1B tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000473 biolink:NamedThing defensive cell A cell whose primary function is to protect the organism. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0010456 biolink:NamedThing renal cell carcinoma, Xp11-associated tmpte7i6ely_mondo_relaxed.owl renal cell carcinoma, Xp11-associated|RCCX1 OMIM:300854|Orphanet:319308|UMLS:C3275446 owl:Class MONDO:0017886 biolink:NamedThing MIT family translocation renal cell carcinoma MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. tmpte7i6ely_mondo_relaxed.owl translocation renal cell carcinoma|carcinoma associated with MITF/TFE translocation SCTID:764694005|ICD10:C64|UMLS:C4518356|OMIM:300854|Orphanet:319308 owl:Class MONDO:0019555 biolink:NamedThing panniculitis and localized lipodystrophy tmpte7i6ely_mondo_relaxed.owl panniculitis-induced localized lipodystrophy ICD10:E88.1|Orphanet:90159|UMLS:CN227651 owl:Class ENVO:01000726 biolink:NamedThing desublimation process Desublimation is a process in which a portion of some gas undergoes a phase transition into a portion of some solid. tmpte7i6ely_mondo_relaxed.owl deposition owl:Class ENVO:01001510 biolink:NamedThing material congelation process A material transformation process during which a material's viscosity increase either through a reduction in temperature, through chemical reactions, or other physical effects. tmpte7i6ely_mondo_relaxed.owl congelation process|congelation owl:Class MONDO:0030263 biolink:NamedThing leukodystrophy, hypomyelinating, 21 tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 21|HLD21 OMIM:619310 owl:Class MONDO:0021377 biolink:NamedThing hypertrophic lichen planus A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring. tmpte7i6ely_mondo_relaxed.owl Hypertrophic Lichen Planus|lichen planus hypertrophicus|Hypertrophic lichen planus|Lichen planus hypertrophicus|hypertrophic lichen planus NCIT:C34779|SCTID:68266006|UMLS:C0023649 owl:Class NCBITaxon:776 biolink:NamedThing Coxiella tmpte7i6ely_mondo_relaxed.owl Coxiella|Burnetia GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:118968 biolink:NamedThing Coxiellaceae tmpte7i6ely_mondo_relaxed.owl Coxiella group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class MONDO:0016065 biolink:NamedThing cleft palate-short stature-vertebral anomalies syndrome Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome GARD:0001392|ICD10:Q87.0|Orphanet:2015|SCTID:719466009|UMLS:CN200784 https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies owl:Class OBO:CHR_9606-chr1 biolink:NamedThing chromosome 1 (Human) tmpte7i6ely_mondo_relaxed.owl 1 248956422 0 hg38 owl:Class HP:0005368 biolink:NamedThing Abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. tmpte7i6ely_mondo_relaxed.owl Defective humoral immunity UMLS:C3150510 human_phenotype owl:Class MONDO:0000551 biolink:NamedThing retroperitoneal neuroblastoma A neuroblastoma that involves the retroperitoneal space. tmpte7i6ely_mondo_relaxed.owl retroperitoneal space neuroblastoma|neuroblastoma of retroperitoneal space DOID:0050937 owl:Class MONDO:0024645 biolink:NamedThing retroperitoneal neoplasm A benign or malignant neoplasm that affects the retroperitoneum. tmpte7i6ely_mondo_relaxed.owl neoplasm of retroperitoneal space|tumor of retroperitoneal space|retroperitoneal space neoplasm|retroperitoneal neoplasm|retroperitoneal space tumor NCIT:C3357 owl:Class MONDO:0006862 biolink:NamedThing myofascial pain syndrome Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome. tmpte7i6ely_mondo_relaxed.owl EFO:1001054|SCTID:24693007|UMLS:C0027073|MedDRA:10048780|MESH:D009209|ICD9:729.1|DOID:431 owl:Class NCBITaxon:1280 biolink:NamedThing Staphylococcus aureus tmpte7i6ely_mondo_relaxed.owl Staphlococcus pyogenes citreus|Micrococcus pyogenes|Micrococcus aureus|Staphylococcus pyogenes aureus|Staphylococcus aureus subsp. anaerobius PMID:31023808|GC_ID:11|PMID:8573498 NCBITaxon:46170|NCBITaxon:72759|NCBITaxon:325213 ncbi_taxonomy owl:Class NCBITaxon:1279 biolink:NamedThing Staphylococcus tmpte7i6ely_mondo_relaxed.owl Aurococcus PMID:10319469|PMID:12656157|PMID:10425778|PMID:17220435|PMID:10319495|PMID:9734063|PMID:10758876|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0024609 biolink:NamedThing vulvar squamous cell carcinoma An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003) tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of the vulva|vulva squamous cell carcinoma|epidermoid cell carcinoma of the vulva|vulvar squamous cell cancer|epidermoid cell carcinoma of vulva|mammalian vulva squamous cell carcinoma|vulvar epidermoid carcinoma|vulva epidermoid carcinoma|vulva epidermoid cell carcinoma|squamous cell carcinoma of vulva|vulvar epidermoid cell carcinoma|vulvar squamous cell carcinoma|squamous cell carcinoma of the vulva|epidermoid carcinoma of vulva EFO:1000624|NCIT:C4052|Orphanet:494448|DOID:2101|UMLS:C0280856|SCTID:254895003 owl:Class UBERON:0004407 biolink:NamedThing distal epiphysis of radius tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004385 biolink:NamedThing epiphysis of radius tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098801 biolink:NamedThing regulation of renal system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016890 biolink:NamedThing partial deletion of the short arm of chromosome 8 Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl chromosome 8p deletion|8p deletion|monosomy 8p|deletion 8p|partial monosomy of the short arm of chromosome 8|partial deletion of the short arm of chromosome type 8|8p monosomy|partial monosomy 8p|partial monosomy of chromosome 8p|partial deletion of chromosome 8p Orphanet:261920|ICD10:Q93.5|GARD:0003768|MESH:C537826 owl:Class MONDO:0016873 biolink:NamedThing partial deletion of chromosome 8 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 8|partial monosomy of chromosome 8 ICD10:Q93.5|Orphanet:261801 owl:Class MONDO:0008675 biolink:NamedThing freeman-Sheldon syndrome Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. tmpte7i6ely_mondo_relaxed.owl Craniocarpotarsal dystrophy|cranio-carpo-tarsal syndrome|arthrogryposis, distal, type 2A|whistling-face syndrome|whistling face-windmill vane hand syndrome|freeman Sheldon syndrome|FSS|freeman-Sheldon syndrome|craniocarpotarsal dysplasia|arthrogryposis distal type 2A|Craniocarpotarsal dysplasia|windmill-vane-hand syndrome|distal arthrogryposis type 2A|craniocarpotarsal dystrophy|whistling face syndrome|DA2A GARD:0006466|DOID:0111604|UMLS:C0265224|MESH:C535483|ICD10CM:Q87.0|NCIT:C98931|OMIM:277720|SCTID:52616002|ICD10:Q87.0|Orphanet:2053|OMIM:616266|OMIM:193700 owl:Class MONDO:0008779 biolink:NamedThing arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. tmpte7i6ely_mondo_relaxed.owl Arthrogryposes, congenital multiple|congenital multiple Arthrogryposes|congenital multiple arthrogryposis UMLS:C0003886|MESH:D001176|NCIT:C84572|EFO:0003857 owl:Class MONDO:0017269 biolink:NamedThing X-linked ichthyosis syndrome X-linked form of inherited ichthyosis syndromic form. tmpte7i6ely_mondo_relaxed.owl inherited ichthyosis syndromic form, X-linked|X-linked inherited ichthyosis syndromic form MedDRA:10048063|Orphanet:281210 Editor note: check relationship to syndromic recessive X-linked ichthyosis owl:Class GO:0005747 biolink:NamedThing mitochondrial respiratory chain complex I A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098800 biolink:NamedThing inner mitochondrial membrane protein complex Any protein complex that is part of the inner mitochondrial membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011261 biolink:NamedThing spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability|spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation MESH:C566515|Orphanet:163649|ICD10:Q77.7|OMIM:602611|SCTID:718766002 owl:Class MONDO:0100476 biolink:NamedThing lipodystrophy, partial, acquired, susceptibility to An inherited susceptibility or predisposition to developing aquired partial lipodystrophy. tmpte7i6ely_mondo_relaxed.owl barraquer-simons syndrome|APLD, susceptibility to|lipodystrophy, cephalothoracic type|lipodystrophy, partial, acquired, susceptibility|lipodystrophy, partial, progressive OMIM:608709|UMLS:C3887501 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011402 biolink:NamedThing congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. tmpte7i6ely_mondo_relaxed.owl CCFDN|congenital cataracts, facial dysmorphism, and neuropathy|congenital cataracts-facial dysmorphism-neuropathy syndrome|cataract, congenital, with Facial Dysmorphism and neuropathy SCTID:702433001|ICD9:759.89|OMIM:604168|Orphanet:48431|UMLS:C1858726|ICD10:Q87.8|MESH:C565822 owl:Class MONDO:0001890 biolink:NamedThing pulp erosion A tooth erosion, non-bacterial that involves the dental pulp. tmpte7i6ely_mondo_relaxed.owl dental pulp tooth erosion, non-bacterial|tooth erosion, non-bacterial of dental pulp DOID:14140|ICD9:521.33 owl:Class MONDO:0002325 biolink:NamedThing tooth erosion, non-bacterial Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) tmpte7i6ely_mondo_relaxed.owl tooth erosion|generalized erosion|localized erosion ICD9:521.35|ICD9:521.30|UMLS:C0040436|SCTID:82212003|MESH:D014077|DOID:2498|ICD9:521.34|ICD10:K03.2|ICD9:521.3 owl:Class MONDO:0006903 biolink:NamedThing peroneal nerve paralysis Paralysis of the nerves located in the legs. tmpte7i6ely_mondo_relaxed.owl nerve palsy, peroneal|palsy, peroneal nerve|peroneal nerve palsy DOID:6925|UMLS:C0270810|NCIT:C27061|SCTID:399088004|EFO:1001102|MedDRA:10033828|ICD10:G57.3 owl:Class NCBITaxon:9605 biolink:NamedThing Homo tmpte7i6ely_mondo_relaxed.owl humans GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:400053 biolink:NamedThing Sylvaemus group tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10128 biolink:NamedThing Apodemus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009477 biolink:NamedThing associated mesenchyme of otic placode tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35605 biolink:NamedThing carbon oxoacid tmpte7i6ely_mondo_relaxed.owl carbon oxoacids|oxoacids of carbon owl:Class UBERON:0000073 biolink:NamedThing regional part of nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019002 biolink:NamedThing Lhermitte-Duclos disease Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. tmpte7i6ely_mondo_relaxed.owl dysplastic gangliocytoma of the cerebellum|LDD|dysplastic cerebellar gangliocytoma|dysplastic gangliocytoma of cerebellum ICDO:9493/0|GARD:0006901|Orphanet:65285|UMLS:C0391826|ICD10:Q04.8|OMIM:158350|NCIT:C8419 owl:Class HGNC:24587 biolink:NamedThing FAM126A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9382 biolink:NamedThing PRKACG tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000319 biolink:NamedThing mucus secreting cell tmpte7i6ely_mondo_relaxed.owl mucous cell BTO:0003689 cell owl:Class CL:0000159 biolink:NamedThing seromucus secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0019264 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. tmpte7i6ely_mondo_relaxed.owl NAGA deficiency type 3|Schindler disease type 3 ICD10:E77.1|OMIM:609241|UMLS:C1836545|Orphanet:79281 owl:Class MONDO:0020173 biolink:NamedThing benign tumor of palpebral epidermis A benign neoplasm that involves the skin of eyelid. tmpte7i6ely_mondo_relaxed.owl skin of eyelid benign neoplasm UMLS:CN207034|Orphanet:98582 owl:Class MONDO:0020172 biolink:NamedThing palpebral epidermal tumor A neoplasm (disease) that involves the skin of eyelid. tmpte7i6ely_mondo_relaxed.owl neoplasm of skin of eyelid|skin of eyelid neoplasm|skin of eyelid neoplasm (disease)|tumor of skin of eyelid|skin of eyelid tumor UMLS:CN207033|SCTID:126499002|Orphanet:98581 owl:Class GO:0006768 biolink:NamedThing biotin metabolic process The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. tmpte7i6ely_mondo_relaxed.owl vitamin B7 metabolism|vitamin H metabolism|vitamin B7 metabolic process|vitamin H metabolic process|biotin metabolism owl:Class MONDO:0019007 biolink:NamedThing vaginal atresia tmpte7i6ely_mondo_relaxed.owl Orphanet:65681|HP:0000148|MedDRA:10046879|ICD10:Q52.0 owl:Class MONDO:0015932 biolink:NamedThing non-syndromic urogenital tract malformation of female A non-syndromic urogenital tract malformation that involves the female organism. tmpte7i6ely_mondo_relaxed.owl nonsyndromic urogenital tract malformation of female|isolated urogenital tract malformation of female|female organism non-syndromic urogenital tract malformation|non-syndromic urogenital tract malformation of female organism Orphanet:182117 owl:Class MONDO:0018279 biolink:NamedThing congenital muscular dystrophy without intellectual disability tmpte7i6ely_mondo_relaxed.owl CMD-no MR|congenital muscular dystrophy-dystroglycanopathy without intellectual disability|CMD without intellectual disability OMIM:606612|ICD10:G71.2|Orphanet:370980|OMIM:613152 owl:Class HGNC:37276 biolink:NamedThing CRPPA tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001567 biolink:NamedThing lung endothelial cell tmpte7i6ely_mondo_relaxed.owl endothelial cell of lung|pulmonary vessel endothelial cell cl owl:Class CL:0002139 biolink:NamedThing endothelial cell of vascular tree An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl vascular endothelial cell|cubodial endothelial cell of vascular tree FMA:67755|BTO:0001854|CALOHA:TS-1106 These cells are reportedly CD31-positive, CD34-positive, CD144-positive, TAL1-positive. tmeehan 2010-08-24T02:06:40Z cell owl:Class NCBITaxon:5970 biolink:NamedThing Exophiala dermatitidis tmpte7i6ely_mondo_relaxed.owl Wangiella dermatitidis|Hormiscium dermatitidis GC_ID:1 ncbi_taxonomy owl:Class FOODON:00001304 biolink:NamedThing food fermentation A fermentation process in which either carbohydrates, proteins or fats are modified through microbial, enzymatic and/or other biological process. tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class FOODON:03470107 biolink:NamedThing food preservation process The methods contributing to the prevention or retardation of microbial, enzymatic or oxidative spoilage and thus to the extension of shelf life. Index all methods for which information is available, even if a corresponding descriptor has already been used in *H. TREATMENT APPLIED*. Preservation descriptors refer to the finished food as a whole with these exceptions: (1) if the components of a multi-component food, such as cream pie, are preservation by different methods, index all methods; (2) if chemical preservatives are declared on the label, always index them even if it is known that the preservative was introduced through or is only present in a component or ingredient of the food; and (3) if the preservation method for an ingredient is declared on the label (such as brie cheese made from pasteurized milk) index it. Also use *INGREDIENT preservation by THERMAL PROCESSING* or *INGREDIENT preservation by IRRADIATION* when ingredients have been pasteurized, ultrapasteurized, sterilized or irradiated. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=J0107 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. owl:Class MONDO:0014273 biolink:NamedThing microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive type 40|mental retardation, autosomal recessive 40|microcephaly-thin corpus callosum-intellectual disability syndrome|MRT40|mental retardation, autosomal recessive type 40|intellectual disability, autosomal recessive 40 OMIM:615599|ICD10:Q87.8|Orphanet:397951|UMLS:C3810080 owl:Class GO:1903998 biolink:NamedThing regulation of eating behavior Any process that modulates the frequency, rate or extent of eating behavior. tmpte7i6ely_mondo_relaxed.owl regulation of eating behaviour owl:Class GO:0060259 biolink:NamedThing regulation of feeding behavior Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. tmpte7i6ely_mondo_relaxed.owl regulation of feeding behaviour owl:Class MONDO:0002909 biolink:NamedThing hyperglycemia Abnormally high level of glucose in the blood. tmpte7i6ely_mondo_relaxed.owl NCIT:C26797|MESH:D006943|ICD10:R73.9|ICD9:790.6|SCTID:80394007|DOID:4195|UMLS:C0020456 owl:Class MONDO:0016107 biolink:NamedThing myotonic dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. tmpte7i6ely_mondo_relaxed.owl myotonia dystrophica|myotonia atrophica|myotonic disease|inherited myotonic dystrophy SCTID:240104008|ICD10:G71.1|OMIMPS:160900|MedDRA:10068871|ICD9:359.2|GARD:0010419|NCIT:C84914|DOID:450|Orphanet:206647|MESH:D009223|UMLS:C0027126 owl:Class MONDO:0016120 biolink:NamedThing myotonic syndrome tmpte7i6ely_mondo_relaxed.owl MESH:D020967|ICD10:G71.1|MedDRA:10028658|Orphanet:206970 owl:Class UBERON:0007196 biolink:NamedThing tracheobronchial tree tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000870 biolink:NamedThing childhood acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. tmpte7i6ely_mondo_relaxed.owl childhood precursor lymphoblastic leukemia|pediatric acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|childhood acute lymphogenous leukemia|childhood acute lymphocytic leukemia|pediatric acute lymphocytic leukemia (ALL)|childhood acute lymphoid leukemia|pediatric acute lymphocytic leukemia|pediatric ALL|pediatric acute lymphoid leukemia|childhood acute lymphoblastic leukemia|pediatric acute lymphogenous leukemia|childhood ALL Orphanet:513|NCIT:C3168|GARD:0009240|DOID:0080144 https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia owl:Class MONDO:0006722 biolink:NamedThing dental fluorosis A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. tmpte7i6ely_mondo_relaxed.owl fluorosis|mottling of enamel|mottled teeth|intrinsic enamel discolouration of fluorosis ICD9:520.3|UMLS:C0026618|NCIT:C85059|EFO:1000892|DOID:13711|ICD10:K00.3|SCTID:30265004|MedDRA:10016819|MESH:D009050 owl:Class MONDO:0006999 biolink:NamedThing tooth disorder A disease involving the calcareous tooth. tmpte7i6ely_mondo_relaxed.owl calcareous tooth disease|dental disorder|tooth disorder|disease of calcareous tooth|disease or disorder of calcareous tooth|calcareous tooth disease or disorder|disorder of calcareous tooth UMLS:C0040435|EFO:1001216|SCTID:234947003|MESH:D014076|DOID:1091|NCIT:C35077 owl:Class MONDO:0001270 biolink:NamedThing stone in bladder diverticulum tmpte7i6ely_mondo_relaxed.owl calculus in diverticulum of bladder SCTID:18109005|ICD9:594.0|DOID:11354|ICD10:N21.0|UMLS:C0156265 owl:Class MONDO:0007197 biolink:NamedThing bladder diverticulum tmpte7i6ely_mondo_relaxed.owl bladder diverticulum|diverticulum of bladder|bladder diverticulum (disease)|diverticulum - bladder bladder diverticulum (disease) ICD10:N32.3|OMIM:109820|HP:0000015|ICD9:596.3|SCTID:197866008|MESH:C562406|DOID:11353 owl:Class HGNC:14674 biolink:NamedThing PCDH15 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000632 biolink:NamedThing Lacrimation abnormality Abnormality of tear production. tmpte7i6ely_mondo_relaxed.owl Abnormality of tear production UMLS:C4021801 HP:0000521 human_phenotype owl:Class UBERON:0003283 biolink:NamedThing mesentery of oesophagus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002095 biolink:NamedThing mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060702 biolink:NamedThing spondyloepimetaphyseal dysplasia, di rocco type tmpte7i6ely_mondo_relaxed.owl SEMDDR|spondyloepimetaphyseal dysplasia, Di Rocco type UMLS:CN244923|OMIM:617974 owl:Class MONDO:0004430 biolink:NamedThing penis mixed squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma). tmpte7i6ely_mondo_relaxed.owl mixed squamous cell carcinoma of the penis NCIT:C39959|DOID:8009|UMLS:C1513369 owl:Class MONDO:0018352 biolink:NamedThing squamous cell carcinoma of penis A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004) tmpte7i6ely_mondo_relaxed.owl PSCC|penile epidermoid cell carcinoma|penile squamous car.(epidermoid)|penile squamous cell cancer|epidermoid carcinoma of penis|epidermoid carcinoma of the penis|penile epidermoid carcinoma|penis squamous cell carcinoma|penile squamous carcinoma (epidermoid)|epidermoid cell carcinoma of the penis|epidermoid cell carcinoma of penis|squamous cell carcinoma of the penis|penile squamous cell carcinoma|squamous cell carcinoma of penis ICD10:C60.0|ICD10:C60.8|NCIT:C7729|SCTID:403468003|ICD10:C60.2|ONCOTREE:PSCC|ICD10:C60.9|UMLS:C0238348|ICD10:C60.1|DOID:5518|Orphanet:398058 owl:Class GO:0033341 biolink:NamedThing regulation of collagen binding Any process that modulates the frequency, rate or extent of collagen binding. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000313 biolink:NamedThing gastric goblet cell A goblet cell that is part of the epithelium of stomach. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of stomach FMA:263035 cell owl:Class CL:0002659 biolink:NamedThing glandular cell of stomach A glandular epithelial cell that is part of the stomach. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-1284|FMA:86554 tmeehan 2011-07-11T01:20:35Z cell owl:Class CL:0002118 biolink:NamedThing CD38-negative IgG-negative class switched memory B cell A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002117 biolink:NamedThing IgG-negative class switched memory B cell A class switched memory B cell that lacks IgG on the cell surface. tmpte7i6ely_mondo_relaxed.owl IgG- class switched memory B-lymphocyte|IgG-negative class switched memory B-cell|IgG-negative class switched memory B-lymphocyte|IgG- class switched memory B-cell|IgG- class switched memory B lymphocyte|IgG- class switched memory B cell|IgG-negative class switched memory B lymphocyte cell owl:Class MONDO:0100485 biolink:NamedThing KCNH1 associated disorder Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently. tmpte7i6ely_mondo_relaxed.owl KCNH1 related disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014999 biolink:NamedThing tooth agenesis, selective, 9 Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene. tmpte7i6ely_mondo_relaxed.owl tooth agenesis caused by mutation in GREM2|tooth agenesis, selective, 9|tooth agenesis, selective, type 9|GREM2 tooth agenesis|tooth agenesis, selective, 9; STHAG9|STHAG9 OMIM:617275 owl:Class MONDO:0019897 biolink:NamedThing distal monosomy 12q tmpte7i6ely_mondo_relaxed.owl monosomy 12qter|distal monosomy type 12q|distal deletion 12q|telomeric deletion 12q Orphanet:96149|ICD10:Q93.5 owl:Class MONDO:0016877 biolink:NamedThing partial deletion of the long arm of chromosome 12 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome 12q|partial monosomy of chromosome 12q|partial deletion of the long arm of chromosome type 12|partial monosomy of the long arm of chromosome 12 ICD10:Q93.5|Orphanet:261821 owl:Class GO:0014052 biolink:NamedThing regulation of gamma-aminobutyric acid secretion Any process that modulates the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpte7i6ely_mondo_relaxed.owl regulation of GABA secretion owl:Class GO:0051046 biolink:NamedThing regulation of secretion Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001384 biolink:NamedThing Abnormal hip joint morphology An abnormality of the hip joint. tmpte7i6ely_mondo_relaxed.owl Abnormality of the hip joint|Abnormality of the hip joints UMLS:C4020870 human_phenotype owl:Class HP:0005262 biolink:NamedThing Abnormality of the synovia tmpte7i6ely_mondo_relaxed.owl UMLS:C4025225 peter 2008-03-26T04:27:00Z human_phenotype owl:Class MONDO:0018202 biolink:NamedThing gonadal germ cell tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:363582|UMLS:CN204712 owl:Class MONDO:0016657 biolink:NamedThing 8p11.2 deletion syndrome 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl monosomy 8p11.2|Del(8)(p11.2) UMLS:CN201887|SCTID:719646006|Orphanet:251066|UMLS:C4304505|ICD10:Q93.5 owl:Class MONDO:0013291 biolink:NamedThing glycogen storage disease XV Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. tmpte7i6ely_mondo_relaxed.owl glycogenosis type XV|glycogenin deficiency|glycogen storage disease 15|GSD15|GSD with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease XV|glycogen storage disease type 15|glycogenosis type 15|glycogen storage disease type XV|glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|GSD type 15|GSD 15|Gyg1 deficiency|GSD type XV ICD10:E74.0|Orphanet:263297|SCTID:717821004|UMLS:C3150754|DOID:0050579|OMIM:613507 owl:Class CHEBI:51270 biolink:NamedThing tetracenes Compounds containing a tetracene skeleton. tmpte7i6ely_mondo_relaxed.owl naphthacenes owl:Class CHEBI:51269 biolink:NamedThing acenes Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011223 biolink:NamedThing amyotrophic lateral sclerosis type 4 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in SETX|distal hereditary motor neuropathy with upper motor neuron signs|distal hereditary motor neuropathy with pyramidal features|amyotrophic lateral sclerosis 4, juvenile|dHMN with upper motor neuron signs|neuronopathy, distal hereditary motor, with pyramidal features|amyotrophic lateral sclerosis 4|SETX amyotrophic lateral sclerosis|ALS 4|ALS4 UMLS:C1865409|ICD10:G12.2|OMIM:602433|MESH:C566550|DOID:0060196|Orphanet:357043|GARD:0010502 https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4 owl:Class MONDO:0009297 biolink:NamedThing familial renal glucosuria Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). tmpte7i6ely_mondo_relaxed.owl renal glycosuria|renal diabetes|GLYS|SGLT2 deficiency|glycosuria, renal|familial renal glucosuria|Glys1|renal glucosuria MedDRA:10038457|EFO:1001151|OMIM:233100|ICD10:E74.8|ICD9:271.4|Orphanet:69076|GARD:0007548|MESH:D006030|UMLS:C3245525|SCTID:267430007|UMLS:C0017980|DOID:9432 https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria owl:Class MONDO:0015567 biolink:NamedThing cataract-glaucoma syndrome Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. tmpte7i6ely_mondo_relaxed.owl cataract - glaucoma UMLS:CN199931|ICD10:Q12.0|Orphanet:162|GARD:0001160|SCTID:718851007 https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma owl:Class UBERON:0003505 biolink:NamedThing trachea blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003597 biolink:NamedThing manual digit connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015791 biolink:NamedThing digit connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006234 biolink:NamedThing femur pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005254 biolink:NamedThing upper leg mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11274 biolink:NamedThing SPTB tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11630 biolink:NamedThing HNF1B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2898 biolink:NamedThing DLD tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007619 biolink:NamedThing limiting membrane of retina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010368 biolink:NamedThing pulmonary lobule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004180 biolink:NamedThing benign urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. tmpte7i6ely_mondo_relaxed.owl renal system benign neoplasm|benign neoplasm of urinary tract|benign tumor of the urinary tract|benign urinary tract tumor|benign urinary tract neoplasm|benign neoplasm of the urinary tract|neoplasm of urinary system|urinary system benign neoplasm|benign urinary system neoplasm|benign tumor of urinary tract|tumor of urinary tract|tumor of the urinary system|urinary tract neoplasm SCTID:126879004|NCIT:C4893|SCTID:92468007|MESH:D014571|ICD9:223.9|ICD9:223.89|DOID:731|NCIT:C3431 owl:Class MONDO:0002492 biolink:NamedThing acute kidney failure Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. tmpte7i6ely_mondo_relaxed.owl acute renal failure|ARF|kidney failure, acute|acute kidney injury|AKI NCIT:C26808|DOID:3021|MESH:D058186|ICD10:N17 owl:Class MONDO:0001106 biolink:NamedThing kidney failure An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. tmpte7i6ely_mondo_relaxed.owl renal insufficiency|failure, renal|renal failure|renal failure syndrome DOID:1074|ICD10:N19|UMLS:C0035078|MESH:D051437|SCTID:42399005|ICD9:404.13|ICD9:404.12|NCIT:C4376|UMLS:C1565489|ICD9:586 owl:Class CHEBI:26536 biolink:NamedThing retinoic acid A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified). tmpte7i6ely_mondo_relaxed.owl 3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid owl:Class CHEBI:26537 biolink:NamedThing retinoid Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof. tmpte7i6ely_mondo_relaxed.owl retinoids|retinoid owl:Class GO:0046852 biolink:NamedThing positive regulation of bone remodeling Any process that activates or increases the frequency, rate or extent of bone remodeling. tmpte7i6ely_mondo_relaxed.owl up regulation of bone remodeling|up-regulation of bone remodeling|stimulation of bone remodeling|upregulation of bone remodeling|activation of bone remodeling owl:Class MONDO:0001484 biolink:NamedThing paranoid schizophrenia A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect. tmpte7i6ely_mondo_relaxed.owl paranoid type schizophrenia|paraphrenic schizophrenia|paranoid type schizophrenia subchronic state|paraphrenia - late|chronic paranoid schizophrenia SCTID:31658008|ICD9:295.3|MESH:D012563|ICD10:F20.0|ICD9:295.32|DOID:1229|ICD9:295.30|NCIT:C35006|ICD9:295.31 owl:Class MONDO:0009883 biolink:NamedThing alpha-2-plasmin inhibitor deficiency Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl antiplasmin deficiency|antiplasmin defiency|anti-plasmin deficiency, congenital|congenital alpha2-antiplasmin deficiency|plasmin inhibitor deficiency|antiplasmin deficiency, congenital|alpha-2-plasmin inhibitor deficiency Orphanet:79|UMLS:C2752081|ICD10:D68.8|MESH:C537777|OMIM:262850|SCTID:716746003|DOID:0060601|GARD:0000731 owl:Class HGNC:17082 biolink:NamedThing MLC1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1385 biolink:NamedThing CABP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0600029 biolink:NamedThing restrictive pulmonary disease Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough. tmpte7i6ely_mondo_relaxed.owl restrictive lung disease|Restrictive lung disease (disorder) NCIT:C91762|UMLS:C0085581|ICD10CM:J98.4|SCTID:36485005 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0011899 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays. tmpte7i6ely_mondo_relaxed.owl NSLH|NS/LAH|Tosti syndrome|NSLH1|Noonan-like syndrome with loose anagen hair|Noonan syndrome-like disorder with loose anagen hair|Noonan syndrome-like disorder with loose anagen hair 1 Orphanet:2701|OMIMPS:607721|MESH:C564342|ICD10:Q87.1|UMLS:C1843181|SCTID:723444009|GARD:0010719|UMLS:C3501846 owl:Class HGNC:6307 biolink:NamedThing KDR tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24621 biolink:NamedThing hormone Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. tmpte7i6ely_mondo_relaxed.owl endocrine|hormones owl:Class CHEBI:33280 biolink:NamedThing molecular messenger tmpte7i6ely_mondo_relaxed.owl chemical messenger owl:Class MONDO:0016019 biolink:NamedThing Rasmussen subacute encephalitis A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia. tmpte7i6ely_mondo_relaxed.owl RE|Rasmussen encephalitis|Rasmussen syndrome|chronic focal encephalitis|CFE SCTID:230191005|ICD9:323.9|Orphanet:1929|MESH:C535291|GARD:0007527|UMLS:C2930868|NCIT:C125384|ICD10:G04.8 owl:Class MONDO:0003641 biolink:NamedThing central nervous system hematopoietic neoplasm A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias. tmpte7i6ely_mondo_relaxed.owl CNS hematopoietic neoplasm|central nervous system hematopoietic neoplasm|central nervous system hematologic cancer|central nervous system hematopoietic and lymphoid system neoplasm|hematopoietic tumor of the central nervous system|hematopoietic neoplasm of the CNS|hematopoietic neoplasm of the central nervous system|lymphomas and hemopoietic neoplasms of the CNS|hematopoietic tumor of central nervous system|central nervous system hematopoietic tumor|hematopoietic and lymphoid system neoplasm of central nervous system|lymphomas and hemopoietic neoplasms of CNS|CNS hematopoietic tumor|central nervous system hematopoietic neoplasms|hematopoietic neoplasm of central nervous system|hematopoietic neoplasm of CNS NCIT:C5503|DOID:5772|UMLS:C1332882 owl:Class GO:0042435 biolink:NamedThing indole-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpte7i6ely_mondo_relaxed.owl indole derivative biosynthetic process|indole-containing compound anabolism|indole derivative biosynthesis|indole-containing compound formation|indole-containing compound synthesis|indole-containing compound biosynthesis owl:Class MONDO:0100175 biolink:NamedThing TTN-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes. tmpte7i6ely_mondo_relaxed.owl TTN myopathy|congenital myopathy related to TTN In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy. http://orcid.org/0000-0001-5208-3432 owl:Class CL:0002000 biolink:NamedThing Kit-positive erythroid progenitor cell An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative. tmpte7i6ely_mondo_relaxed.owl c- Kit-positive erythroid progenitor cell Markers found on mouse cells. tmeehan 2010-04-26T10:14:16Z cell owl:Class CL:0001066 biolink:NamedThing erythroid progenitor cell, mammalian A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). tmpte7i6ely_mondo_relaxed.owl burst forming unit erythroid|BFU-E|erythroid stem cell|CFU-E|colony forming unit erythroid|blast forming unit erythroid BTO:0004911 cell owl:Class MONDO:0012629 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 2 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31. tmpte7i6ely_mondo_relaxed.owl dystonia 20|paroxysmal nonkinesigenic dyskinesia 2|paroxysmal nonkinesigenic dyskinesia type 2|PNKD2 DOID:0090047|OMIM:611147|UMLS:C1970149|ICD10:G24.8|MESH:C567001|Orphanet:98810 owl:Class MONDO:0700088 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. tmpte7i6ely_mondo_relaxed.owl Paroxysomal nonkinesigenic dyskinesia|paroxysmal non-kinesigenic dyskinesia|DYT-MR-1|Paroxystic non-kinesigenic choreoathetosis GARD:0008722|Orphanet:98810 http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:20581 biolink:NamedThing CYP26B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017761 biolink:NamedThing disorder of mineral absorption and transport tmpte7i6ely_mondo_relaxed.owl ICD10:E83.1|ICD10:E83.9|UMLS:CN227205|ICD10:E83.5|ICD10:E83.0|Orphanet:309836|ICD10:E83.8|ICD10:E83.4|ICD10:E83.2|ICD10:E83.3 owl:Class MONDO:0002433 biolink:NamedThing malignant cranial nerve neoplasm Abnormal malignant growth of the cells that comprise the cranial nerve. tmpte7i6ely_mondo_relaxed.owl cancer of cranial nerve|malignant neoplasm of cranial nerves|cranial nerve malignant neoplasm|malignant cranial nerve neoplasm|malignant neoplasm of the cranial nerve|malignant neoplasm of cranial nerve|malignant tumor of cranial nerve|malignant tumor of the cranial nerve|cranial nerve cancer|malignant cranial nerve tumor|cranial nerve neoplasm, malignant NCIT:C3571|MESH:D003390|UMLS:C0153644|SCTID:188307009|DOID:2815|ICD9:192.0|ICD10:C72.50 owl:Class MONDO:0005962 biolink:NamedThing skeletal tuberculosis Tuberculosis of the bones or joints. tmpte7i6ely_mondo_relaxed.owl osteoarticular tuberculosis MESH:D014394|ICD10:A18.0|UMLS:C0041324|SCTID:17653001|EFO:0007487|DOID:1639|ICD9:015|ICD9:015.9 owl:Class HGNC:4507 biolink:NamedThing GABBR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014790 biolink:NamedThing TMEM199-CDG tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type IIp|CDG2P|congenital disorder of glycosylation, type IIp|CDG syndrome type IIp|congenital disorder of glycosylation type 2p|CDG IIp|CDG-IIp|carbohydrate deficient glycoprotein syndrome type IIp DOID:0070268|UMLS:C4225190|Orphanet:466703|OMIM:616829 owl:Class MONDO:0007772 biolink:NamedThing pseudohypoaldosteronism type 2A tmpte7i6ely_mondo_relaxed.owl Gordon hyperkalemia-hypertension syndrome|pseudohypoaldosteronism, type IIA|hyperpotassemia and hypertension, familial|hypertensive hyperkalemia, familial|PHA2A Orphanet:88938|UMLS:C1449844|Orphanet:757|ICD10:I15.1|UMLS:C1840389|SCTID:703254001|OMIM:145260 owl:Class MONDO:0019162 biolink:NamedThing pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. tmpte7i6ely_mondo_relaxed.owl hyperpotassemia and hypertension familial|PHAII|Spitzer-Weinstein syndrome|pseudohypoaldosteronism, type II|pseudohypoaldosteronism, type 2|chloride shunt syndrome|Gordon syndrome|Gordon hyperkalemia-hypertension syndrome|hypertensive hyperkalemia|PHA2|hyperkalemia-hypertension syndrome, Gordon type|mineralocorticoid resistant hyperkalemia|familial hyperkalemic hypertension OMIM:145260|OMIM:614496|ICD9:588.89|NCIT:C123252|OMIM:614492|OMIM:614495|UMLS:C1449844|Orphanet:757|OMIM:614491|OMIMPS:145260|GARD:0004553|ICD10:I15.1|SCTID:15689008 owl:Class MONDO:0015534 biolink:NamedThing juvenile xanthogranuloma A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. tmpte7i6ely_mondo_relaxed.owl multiple eruptive juvenile xanthogranuloma|juvenile xanthogranuloma|xanthoma neviforme|Naevoxanthoendothelioma|JXG EFO:1000311|SCTID:400204000|ICD10:D76.3|MESH:D014972|NCIT:C3451|Orphanet:158000|UMLS:C0043324|DOID:4424 owl:Class MONDO:0017704 biolink:NamedThing familial partial epilepsy An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary partial epilepsy|epilepsy, partial, familial GARD:0002173|ICD10:G40.1|Orphanet:309|UMLS:CN227178 https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial owl:Class HP:0200036 biolink:NamedThing Skin nodule Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. tmpte7i6ely_mondo_relaxed.owl Growth of abnormal tissue on or under the skin UMLS:C0037287|SNOMEDCT_US:95319004 A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. sebastiankohler 2010-06-18T01:48:50Z human_phenotype owl:Class HP:0011355 biolink:NamedThing Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. tmpte7i6ely_mondo_relaxed.owl Localised skin lesion|Localized skin lesion UMLS:C0850826 peter 2012-03-01T02:37:43Z human_phenotype owl:Class MONDO:0002542 biolink:NamedThing spinal cord glioma A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma. tmpte7i6ely_mondo_relaxed.owl glioma of spinal cord|spinal cord glioma|spinal cord malignant glioma|spinal cord glial neoplasm|spinal cord glial tumor|glial neoplasm spinal cord|malignant glioma of spinal cord|glial tumor of spinal cord SCTID:254946004|DOID:3185|UMLS:C2937245|NCIT:C4534 owl:Class MONDO:0001153 biolink:NamedThing gender dysphoria A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5) tmpte7i6ely_mondo_relaxed.owl transsexualism MESH:D000068116|Orphanet:459690|ICD9:302.50|DOID:10919|SCTID:93461009 owl:Class MONDO:0000315 biolink:NamedThing commensal bacterial infectious disease A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. tmpte7i6ely_mondo_relaxed.owl opportunistic bacterial infectious disease DOID:0050339 Editor note: TODO owl:Class MONDO:0001081 biolink:NamedThing acute cervicitis Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation. tmpte7i6ely_mondo_relaxed.owl cervicitis (disease), acute|acute cervicitis (disease) DOID:10616|UMLS:C0269061|NCIT:C27056|SCTID:19272000 owl:Class GO:0006570 biolink:NamedThing tyrosine metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpte7i6ely_mondo_relaxed.owl tyrosine metabolism owl:Class MONDO:0010795 biolink:NamedThing oncocytic neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) tmpte7i6ely_mondo_relaxed.owl oncocytoma|oncocytoma, benign|oncocytic tumor|oncocytic neoplasm NCIT:C7072|UMLS:C1378050|OMIM:553000|UMLS:C1510502 owl:Class MONDO:0007041 biolink:NamedThing apert syndrome Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. tmpte7i6ely_mondo_relaxed.owl ACS 1|apert-Crouzon disease|Vogt Cephalodactyly|ACS1|acrocephalosyndactyly type I|acrocephalosyndactyly, type 1|acrocephalo-syndactyly type 1|acrocephalosyndactyly, type 2|type I Acrocephalosyndactyly|apert syndrome|ACS 2|acrocephalosyndactyly type 1|syndactylic oxycephaly ICD10:Q87.0|NCIT:C99099|MedDRA:10002943|GARD:0005833|MESH:D000168|Orphanet:87|UMLS:C0001193|SCTID:205258009|OMIM:101200 owl:Class MONDO:0019796 biolink:NamedThing acrocephalosyndactyly Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. tmpte7i6ely_mondo_relaxed.owl ACS|acrocephalosyndactyly|acrocephalosyndactylia MESH:D000168|MedDRA:10000590|OMIM:101200|SCTID:268262006|EFO:0004123|DOID:12960|GARD:0000486|Orphanet:946|NCIT:C34348|ICD10:Q87.0|ICD9:755.55|OMIM:101600|OMIM:101400|OMIM:101120 owl:Class MONDO:0006390 biolink:NamedThing prostate small cell carcinoma A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells. tmpte7i6ely_mondo_relaxed.owl prostate small cell neuroendocrine carcinoma|prostate small cell NEC|small cell carcinoma of prostate gland|prostate Oat cell carcinoma|prostate gland small cell carcinoma|PRSCC|prostate small cell carcinoma|Oat cell carcinoma of prostate|small cell carcinoma of prostate|small cell carcinoma of the prostate|Oat cell carcinoma of the prostate|prostate oat cell carcinoma UMLS:C1300585|DOID:7141|ONCOTREE:PRSCC|NCIT:C6766|EFO:1000499|SCTID:396198006 Editor note: DO classifies as lung oat cell carcinoma owl:Class MONDO:0012181 biolink:NamedThing hereditary spastic paraplegia 27 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 27, autosomal recessive|autosomal recessive spastic paraplegia type 27|hereditary spastic paraplegia type 27|autosomal recessive spastic paraplegia 27|SPG27 DOID:0110778|MESH:C563807|ICD10:G11.4|OMIM:609041|UMLS:C1836899|Orphanet:101007 owl:Class NCBITaxon:33758 biolink:NamedThing Echovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:90010 biolink:NamedThing unclassified Enterovirus tmpte7i6ely_mondo_relaxed.owl unclassified Enteroviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019739 biolink:NamedThing atypical hemolytic-uremic syndrome with anti-factor H antibodies tmpte7i6ely_mondo_relaxed.owl hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|D-HUS with anti-factor H antibodies|atypical HUS with anti-factor H antibodies|aHUS with anti-factor H antibodies UMLS:CN206652|OMIM:235400|ICD10:D58.8|Orphanet:93581 owl:Class MONDO:0009335 biolink:NamedThing hemolytic uremic syndrome, atypical, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl susceptibility to atypical hemolytic uremic syndrome 1|hemolytic uremic syndrome, atypical, susceptibility to, 1|hemolytic uremic syndrome, typical|Ahus, susceptibility to, 1|hemolytic uremic syndrome, atypical, susceptibility to, type 1|AHUS1 OMIM:235400|Orphanet:2134|Orphanet:93579|Orphanet:90038|Orphanet:93581 owl:Class GO:0090024 biolink:NamedThing negative regulation of neutrophil chemotaxis Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0090022 biolink:NamedThing regulation of neutrophil chemotaxis Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023186 biolink:NamedThing Fraser Jequier Chen syndrome tmpte7i6ely_mondo_relaxed.owl chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs MESH:C535481|UMLS:C2930912|GARD:0002373 https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome owl:Class MONDO:0009104 biolink:NamedThing Donnai-Barrow syndrome Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. tmpte7i6ely_mondo_relaxed.owl Donnai-Barrow syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|diaphragmatic hernia-exomphalos-hypertelorism syndrome|Holmes-Schepens syndrome|DBS/FOAR syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|FOAR syndrome|syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|faciooculoacousticorenal syndrome SCTID:702418009|Orphanet:2143|GARD:1899|GARD:0001899|ICD10:Q87.8|OMIM:222448|UMLS:C1857277|DOID:0090144|MESH:C536390|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome owl:Class MONDO:0015216 biolink:NamedThing syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with diaphragmatic or abdominal wall malformation|syndromic diaphragmatic or abdominal wall malformation UMLS:CN226633|Orphanet:108979 owl:Class MONDO:0000060 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism tmpte7i6ely_mondo_relaxed.owl UMLS:CN239360 owl:Class MONDO:0005659 biolink:NamedThing atrophic rhinitis A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). tmpte7i6ely_mondo_relaxed.owl rhinitis, atrophic|dry rhinitis|ozena|rhinitis sicca|Ozaena SCTID:69646003|MESH:D012222|DOID:4731|UMLS:C0030105|UMLS:C0035459|EFO:0007159 owl:Class MONDO:0003014 biolink:NamedThing rhinitis An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. tmpte7i6ely_mondo_relaxed.owl runny nose|inflammation of nasal cavity mucosa|nasal cavity mucosa inflammation ICD10:J30|SCTID:70076002|DOID:4483|MESH:D012220|NCIT:C34986|UMLS:C0035455|EFO:0008521 owl:Class CHEBI:48356 biolink:NamedThing protic solvent A polar solvent that is capable of acting as a hydron (proton) donor. tmpte7i6ely_mondo_relaxed.owl protogenic solvent owl:Class CHEBI:39141 biolink:NamedThing Bronsted acid A molecular entity capable of donating a hydron to an acceptor (Bronsted base). tmpte7i6ely_mondo_relaxed.owl Bronsted-Saeure|donneur d'hydron|hydron donor|Bronsted acid|acide de Bronsted owl:Class MONDO:0027029 biolink:NamedThing HHV-6 encephalitis HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. tmpte7i6ely_mondo_relaxed.owl Variant A or HHV-6A|Human Herpesvirus 6 encephalitis|Variant B or HHV-6B GARD:0009667 owl:Class MONDO:0006009 biolink:NamedThing viral encephalitis Encephalitis resulting from viral infection. tmpte7i6ely_mondo_relaxed.owl viral encephalitis|Viruses caused encephalitis|Viruses encephalitis SCTID:34476008|MedDRA:10058805|UMLS:C0243010|EFO:0007538|NCIT:C34576|SCTID:186499007|NCIT:C35302|Orphanet:98252|DOID:646 Editor note: we place the Orphanet class here as it is implicitly viral owl:Class HP:0011277 biolink:NamedThing Abnormality of the urinary system physiology tmpte7i6ely_mondo_relaxed.owl UMLS:C4023437 peter 2011-12-30T02:51:16Z human_phenotype owl:Class MONDO:0003832 biolink:NamedThing complement deficiency A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. tmpte7i6ely_mondo_relaxed.owl complement activation disease|complement deficiency disease|disorder of complement activation|complement deficiency|immunodeficiency due to a complement cascade component deficiency UMLS:C0272242|NCIT:C4691|ICD9:279.8|DOID:626|SCTID:24743004|ICD10:D84.1|ICD10:D80-D89|Orphanet:459345 owl:Class MONDO:0004095 biolink:NamedThing B-cell neoplasm A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. tmpte7i6ely_mondo_relaxed.owl B-cell neoplasm|B-cell lymphocytic neoplasm|B-cell lymphoma|lymphoma, B-cell NCIT:C27907|MESH:D016393|DOID:707|GARD:0005877|NCIT:C3457 https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma owl:Class MONDO:0005157 biolink:NamedThing lymphoid neoplasm A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. tmpte7i6ely_mondo_relaxed.owl lymphoid tumor|lymphoid and plasmacytic tumour|lymphoid neoplasm|lymphocytic and plasma cell neoplasm|lymphoid and plasma cell tumour|lymphocytic and plasmacytic neoplasm|lymphocytic tumor|lymphocytic and plasma cell tumor|lymphoid and plasmacytic neoplasm|lymphocytic and plasma cell tumour|lymphoid and plasma cell tumor|lymphoid and plasmacytic tumor|lymphocytic neoplasm EFO:0001642|UMLS:C0598798|MESH:D016403|NCIT:C7065|ICD9:200.7|ONCOTREE:LYMPH owl:Class NCIT:C36779 biolink:NamedThing Malignant Epithelial Cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004580 biolink:NamedThing retinal degeneration Degeneration of the retina. tmpte7i6ely_mondo_relaxed.owl degeneration of retina|retina degeneration|retina, Degeneration Of DOID:8466|SCTID:95695004|MESH:D012162|NCIT:C34979 owl:Class MONDO:0012818 biolink:NamedThing maturity-onset diabetes of the young type 9 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene. tmpte7i6ely_mondo_relaxed.owl PAX4 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in PAX4|type 9 maturity-onset diabetes of the young|MODY9|diabetes mellitus MODY type 9|maturity-onset diabetes of the young, type 9|MODY PAX4 related|MODY type 9 UMLS:C2677132|MESH:C567393|OMIM:612225|DOID:0111107|GARD:0010663|SCTID:609576002|Orphanet:552 https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9 owl:Class MONDO:0011555 biolink:NamedThing radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). tmpte7i6ely_mondo_relaxed.owl radioulnar synostosis with amegakaryocytic thrombocytopenia|ATRUS syndrome|RUSAT MESH:C565328|OMIMPS:605432|Orphanet:71289|OMIM:605432|ICD10:Q87.2|SCTID:721882001|OMIM:616738 owl:Class NCBITaxon:6252 biolink:NamedThing Ascaris lumbricoides tmpte7i6ely_mondo_relaxed.owl common roundworm GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6251 biolink:NamedThing Ascaris tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010580 biolink:NamedThing immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. tmpte7i6ely_mondo_relaxed.owl diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|polyendocrinopathy, immune dysfunction and diarrhea x-linked|IPEX syndrome|XPID|XLAAD|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|autoimmunity-immunodeficiency syndrome x-linked|IDDM secretory diarrhea syndrome|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|X-linked autoimmunity-allergic dysregulation syndrome|immune dysfunction and diarrhea syndrome|DMSD|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|autoimmunity-immunodeficiency syndrome, X-linked|X linked polyendocrinopathy|IDDM-secretory diarrhea syndrome|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked|autoimmune enteropathy type 1|Iddm-secretory diarrhea syndrome|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|islets of Langerhans, absence of|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|IPEX SCTID:237618001|ICD10:E31.0|MESH:C580192|ICD9:250.81|OMIM:304790|GARD:1850|GARD:0001850|DOID:0090110|Orphanet:37042|NCIT:C131009 owl:Class MONDO:0017937 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain tmpte7i6ely_mondo_relaxed.owl UMLS:CN204081|Orphanet:324585|ICD10:G60.0 owl:Class UBERON:0006645 biolink:NamedThing adventitia of epididymis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005742 biolink:NamedThing adventitia tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000028 biolink:NamedThing cerebellum glutamatergic neuron Any glutamatergic neuron that is part of a cerebellum. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-25T00:24:10Z cell owl:Class CL:0000679 biolink:NamedThing glutamatergic neuron tmpte7i6ely_mondo_relaxed.owl WBbt:0006829 cell owl:Class HP:0008035 biolink:NamedThing Retinitis pigmentosa inversa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). tmpte7i6ely_mondo_relaxed.owl Central retinitis pigmentosa UMLS:C4021559 HP:0008506 human_phenotype owl:Class HP:0000546 biolink:NamedThing Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. tmpte7i6ely_mondo_relaxed.owl Retina degeneration MSH:D012162|UMLS:C0035304|SNOMEDCT_US:95695004 HP:0007632|HP:0007893|HP:0007790|HP:0007863 human_phenotype owl:Class MONDO:0004186 biolink:NamedThing cranial nodular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl cranial nodular fasciitis|cranial pseudosarcomatous fasciitis DOID:7326|NCIT:C27248|UMLS:C1333162 owl:Class MONDO:0024653 biolink:NamedThing skull neoplasm A benign or malignant neoplasm that affects the bones and structures of the skull. tmpte7i6ely_mondo_relaxed.owl skull tumor|tumor of the skull|skull neoplasm|tumor of skull|neoplasm of the skull|neoplasm of skull ICD9:239.2|UMLS:C0037305|SCTID:126538005|NCIT:C3375 owl:Class MONDO:0006392 biolink:NamedThing rectal hyperplastic polyp A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps. tmpte7i6ely_mondo_relaxed.owl rectal Hp|rectal metaplastic polyp|rectal MP|hyperplastic polyp of the rectum|hyperplastic polyp of rectum NCIT:C5619|UMLS:C1335679|EFO:1000502 owl:Class MONDO:0021398 biolink:NamedThing polyp of rectum A polyp that involves the rectum. tmpte7i6ely_mondo_relaxed.owl rectum polyp|polyp of the rectum|rectal polyp SCTID:39772007|UMLS:C0034887|NCIT:C3351 owl:Class UBERON:0007122 biolink:NamedThing pharyngeal pouch 1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15597 biolink:NamedThing HPS3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012469 biolink:NamedThing external anal region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005973 biolink:NamedThing Strongylida infectious disease Infections with nematodes of the order strongylida. tmpte7i6ely_mondo_relaxed.owl EFO:0007500|MESH:D017206 owl:Class MONDO:0005135 biolink:NamedThing parasitic infectious disease A successful invasion of a host by an organism that uses the host for food and shelter. tmpte7i6ely_mondo_relaxed.owl parasitemia|diseases, parasitic|disease caused by parasite|infestation|parasitic infectious disease|parasitosis|parasitic disease|parasite infestation|parasitism|parasitic infection|ectoparasitic disease|disease, parasitic ICD9:376.13|ICD10:H44.12|DOID:1398|ICD9:360.13|UMLS:C0014238|MESH:D010272|NCIT:C27864|ICD9:129|MESH:D018512|SCTID:17322007|ICD9:136.9|SCTID:57100005|ICD9:136.8|ICD9:136.4|EFO:0001067|ICD9:134.8|NCIT:C34587|ICD9:134.9 owl:Class MONDO:0004696 biolink:NamedThing larynx carcinoma in situ A in situ carcinoma that involves the larynx. tmpte7i6ely_mondo_relaxed.owl laryngeal cancer stage 0|stage 0 laryngeal carcinoma in situ|stage 0 larynx carcinoma|stage 0 laryngeal cancer aJCC v6, v7, and V8|stage 0 carcinoma of the larynx|larynx in situ carcinoma|stage 0 laryngeal throat cancer|stage 0 laryngeal cancer aJCC v8|stage 0 carcinoma of larynx|carcinoma in situ of larynx|laryngeal carcinoma stage 0|stage 0 laryngeal cancer aJCC v6|stage 0 laryngeal carcinoma|stage 0 laryngeal cancer aJCC v7|carcinoma in situ of the larynx|larynx carcinoma in situ|stage 0 laryngeal cancer|laryngeal carcinoma in situ ICD10:D02.0|DOID:9011|SCTID:92634009|NCIT:C9100|ICD9:231.0|UMLS:C0154069 owl:Class MONDO:0002358 biolink:NamedThing laryngeal carcinoma Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation. tmpte7i6ely_mondo_relaxed.owl cancer of larynx|carcinoma of the larynx|laryngeal carcinoma|laryngeal throat cancer|larynx carcinoma|cancer of the larynx|carcinoma of larynx|laryngeal cancer UMLS:C0595989|NCIT:C4855|GARD:0006862|SCTID:276975007|DOID:2600 owl:Class MONDO:0032669 biolink:NamedThing Diamond-Blackfan anemia 19 tmpte7i6ely_mondo_relaxed.owl DBA19|DIAMOND-BLACKFAN ANEMIA 19 OMIM:618312 owl:Class UBERON:0004937 biolink:NamedThing submucosa of pylorus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010151 biolink:NamedThing duct of bulbourethral gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012070 biolink:NamedThing palatal tooth tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003267 biolink:NamedThing tooth of upper jaw tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019143 biolink:NamedThing intramuscular adipose tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001850 biolink:NamedThing lacrimal drainage system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004066 biolink:NamedThing frontonasal prominence tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009292 biolink:NamedThing embryonic nasal process tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012034 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. tmpte7i6ely_mondo_relaxed.owl limb-girdle muscular dystrophy type 1F|muscular dystrophy limb-girdle type 1F|muscular dystrophy, limb-girdle, type 1F|LGMD1F OMIM:608423|MESH:C564242|GARD:0012530|DOID:0110304|ICD10:G71.0|SCTID:719989007|Orphanet:55595 owl:Class MONDO:0014483 biolink:NamedThing retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies tmpte7i6ely_mondo_relaxed.owl retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities|RDGCA|retinal dystrophy with inner nuclear layer and ganglion cell anomalies ICD10:H35.5|UMLS:C4015146|Orphanet:397758|OMIM:616079 owl:Class GO:0045701 biolink:NamedThing negative regulation of spermatid nuclear differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation. tmpte7i6ely_mondo_relaxed.owl inhibition of spermatid nuclear differentiation|downregulation of spermatid nuclear differentiation|down regulation of spermatid nuclear differentiation|down-regulation of spermatid nuclear differentiation owl:Class MONDO:0006915 biolink:NamedThing polyradiculoneuropathy Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. tmpte7i6ely_mondo_relaxed.owl UMLS:C0032587|EFO:1001116|MESH:D011129|SCTID:128078004|DOID:4308 owl:Class MONDO:0001824 biolink:NamedThing polyneuropathy A disease or disorder affecting more than one nerve. tmpte7i6ely_mondo_relaxed.owl polyneuropathy ICD10:A69.22|UMLS:C0152025|SCTID:42345000|ICD10:G62.9|DOID:1389|ICD9:356.9|MESH:D011115|ICD9:357.4|NCIT:C26951 owl:Class OBO:CHR_9606-chr7p22.1 biolink:NamedThing 7p22.1 (Human) tmpte7i6ely_mondo_relaxed.owl 7200000 4500000 hg38 owl:Class MONDO:0011598 biolink:NamedThing atopic dermatitis 4 An atopic dermatitis associated with variation in the region 17q25.3. tmpte7i6ely_mondo_relaxed.owl ATOD4|atopic dermatitis type 4|dermatitis, ATOPIC, 4 MESH:C565291|OMIM:605805|DOID:0110100|UMLS:C1853963 owl:Class MONDO:0004539 biolink:NamedThing aortic malignant tumor A cancer that involves the aorta. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of aorta|malignant tumor of the aorta|aortic malignant neoplasm|malignant neoplasm of the aorta|cancer of aorta|aorta cancer|malignant tumor of aorta|malignant aorta neoplasm|malignant aortic neoplasm NCIT:C5375|DOID:8352|UMLS:C1334560 owl:Class HGNC:735 biolink:NamedThing ASAH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004824 biolink:NamedThing neonatal candidiasis A fungal infection by any of the Candida species in a newborn infant up to 28 days old. tmpte7i6ely_mondo_relaxed.owl neonatal candida infection|neonatal Monilia infection|neonatal Candida infection|neonatal moniliasis DOID:9577|SCTID:414821002|NCIT:C116810|ICD10:P37.5|UMLS:C0276682|ICD9:771.7 owl:Class UBERON:0002111 biolink:NamedThing artery smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2323 biolink:NamedThing CPS1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:693997 biolink:NamedThing Alphacoronavirus 1 tmpte7i6ely_mondo_relaxed.owl Alphacoronavirus-1 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2509514 biolink:NamedThing Tegacovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013778 biolink:NamedThing pseudohypoaldosteronism type 2C Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. tmpte7i6ely_mondo_relaxed.owl pseudohypoaldosteronism type 2 caused by mutation in WNK1|pseudohypoaldosteronism, type IIC|WNK1 pseudohypoaldosteronism type 2|PHA2C|pseudohypoaldosteronism, type 2C Orphanet:88940|OMIM:614492|MESH:C564162|Orphanet:757|ICD10:I15.1|UMLS:C1840391 owl:Class MONDO:0007913 biolink:NamedThing low density lipoprotein, variation in molecular weight of tmpte7i6ely_mondo_relaxed.owl LOW density lipoprotein, variation in molecular weight OF OMIM:152450 owl:Class GO:0071478 biolink:NamedThing cellular response to radiation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpte7i6ely_mondo_relaxed.owl cellular response to radiation stimulus|cellular response to electromagnetic radiation stimulus owl:Class GO:0009314 biolink:NamedThing response to radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpte7i6ely_mondo_relaxed.owl response to electromagnetic radiation stimulus|response to radiation stimulus owl:Class MONDO:0010598 biolink:NamedThing glycogen storage disease IXa1 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes. tmpte7i6ely_mondo_relaxed.owl glycogenosis type 9A|phosphorylase kinase deficiency of liver|glycogen storage disease VIII, formerly|glycogen storage disease IXa1|glycogenosis type IXa|PHKA2-related glycogen storage disease type IX|glycogen storage disease type IXa|glycogen storage disease IXa|glycogen storage disease VIII|GSD9A|liver glycogenosis, X-linked, type 1|PHKA2 glycogen storage disease|glycogen storage disease caused by mutation in PHKA2|GSD VIII|GSD type 9A|GSD type IXa|glycogenosis type 8|hepatic glycogen phosphorylase kinase deficiency|glycogen storage disease type 9A|PYKL|GSD9A1|glycogenosis type VIII|glycogen storage disease type VIII|hepatic phosphorylase kinase deficiency|GSD VIII, formerly|glycogen storage disease 8 DOID:0111042|Orphanet:264580|MedDRA:10053242|SCTID:41527003|MESH:D006015|GARD:0006538|ICD10:E74.0|SCTID:235908005|UMLS:C0017927|EFO:1000952|OMIM:306000|DOID:2751|MESH:C564421 https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8|https://github.com/monarch-initiative/mondo/issues/2128 owl:Class HP:0001072 biolink:NamedThing Thickened skin Laminar thickening of skin. tmpte7i6ely_mondo_relaxed.owl Thick skin|Thickened skin|Diffusely thickened skin|Pachydermia SNOMEDCT_US:17417006|UMLS:C4020878|SNOMEDCT_US:69943009|UMLS:C0334008|MEDDRA:10040936 HP:0007393 human_phenotype owl:Class MONDO:0010966 biolink:NamedThing achondrogenesis type IB Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. tmpte7i6ely_mondo_relaxed.owl achondrogenesis type 1B|achondrogenesis, type IB|achondrogenesis, Parenti-Fraccaro type|achondrogenesis type IB|achondrogenesis, Fraccaro type|achondrogenesis, type 1B|achondrogenesis Fraccaro type|ACG1B|Fraccaro achondrogenesis Orphanet:93298|ICD10:Q77.0|Orphanet:932|GARD:0000460|DOID:0080055|OMIM:600972 owl:Class MONDO:0019648 biolink:NamedThing achondrogenesis Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. tmpte7i6ely_mondo_relaxed.owl MESH:C579878|MedDRA:10066122|ICD10:Q77.0|Orphanet:932|DOID:0080043|OMIM:600972|SCTID:2391001|NCIT:C84527|OMIM:200610|GARD:0002882|UMLS:C0001079|OMIM:200600|OMIMPS:200600 https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis owl:Class MONDO:0008125 biolink:NamedThing nonsyndromic congenital nail disorder 5 tmpte7i6ely_mondo_relaxed.owl nonsyndromic congenital nail disorder type 5|NDNC5|nail disorder, nonsyndromic congenital, 5|onycholysis, hereditary distal|onycholysis, partial, with scleronychia OMIM:164800|DOID:0080083|MESH:C563503|UMLS:C1833909 owl:Class MONDO:0008838 biolink:NamedThing ataxia - deafness - intellectual disability syndrome This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Adr syndrome|Reardon-Baraitser syndrome|familial ataxia, deafness, and developmental delay|ataxia, hearing loss, and intellectual disability|ataxia-hearing loss-intellectual disability syndrome|ataxia-deafness-retardation syndrome|Reardon Wilson Cavanagh syndrome|ataxia, hearing loss, and mental retardation OMIM:208850|SCTID:720517001|ICD10:G11.1|Orphanet:1188|MESH:C535295|GARD:0004644 owl:Class MONDO:0021303 biolink:NamedThing adenoma of small intestine A adenoma that involves the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestine adenoma|small intestinal adenoma|adenoma of small bowel|adenoma of the small bowel|small bowel adenoma|adenoma of the small intestine SCTID:399422005|UMLS:C1302392|NCIT:C5340 owl:Class GO:0002689 biolink:NamedThing negative regulation of leukocyte chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. tmpte7i6ely_mondo_relaxed.owl down-regulation of leukocyte chemotaxis|negative regulation of immune cell chemotaxis|downregulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|negative regulation of leucocyte chemotaxis|down regulation of leukocyte chemotaxis owl:Class MONDO:0013713 biolink:NamedThing dengue virus, susceptibility to tmpte7i6ely_mondo_relaxed.owl Dengue shock syndrome, susceptibility to|Dengue fever, protection against|Dengue fever, susceptibility to|susceptibility to dengue virus|dengue virus, susceptibility to|Dengue hemorrhagic fever, susceptibility to OMIM:614371 owl:Class GO:0055117 biolink:NamedThing regulation of cardiac muscle contraction Any process that modulates the frequency, rate or extent of cardiac muscle contraction. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006942 biolink:NamedThing regulation of striated muscle contraction Any process that modulates the frequency, rate or extent of striated muscle contraction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008819 biolink:NamedThing arteriosclerosis, severe juvenile tmpte7i6ely_mondo_relaxed.owl arteriosclerosis, severe juvenile UMLS:C1859725|OMIM:208060|MESH:C565941 owl:Class NCBITaxon:1851469 biolink:NamedThing Trichosporonales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:155616 biolink:NamedThing Tremellomycetes tmpte7i6ely_mondo_relaxed.owl Tremellomycetidae|Heterobasidiomycetes GC_ID:1|PMID:26955199 NCBITaxon:165805|NCBITaxon:165804 ncbi_taxonomy owl:Class MONDO:0016011 biolink:NamedThing fetal alcohol syndrome Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). tmpte7i6ely_mondo_relaxed.owl alcohol-related neurodevelopmental disorder|FAS|alcohol-related birth defects|fetal alcohol spectrum disorders|ARBD|FASD|ARND|static encephalopathy ICD10:Q86.0|Orphanet:1915|SCTID:205788004|NCIT:C84713|UMLS:C0015923|DOID:0050667|MedDRA:10016845|DOID:0050665 owl:Class MONDO:0007187 biolink:NamedThing nevoid basal cell carcinoma syndrome A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. tmpte7i6ely_mondo_relaxed.owl multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies|NBCCS|nevoid basal cell cancer syndrome|multiple basal cell carcinomas|BCNS|basal cell nevus syndrome|Gorlin-Goltz syndrome|Gorlin syndrome|nevoid basal cell carcinoma syndrome OMIM:109400|MESH:D001478|GARD:0007166|NCIT:C2892|ICD10:Q87.8|UMLS:C0004779|MedDRA:10062804|SCTID:69408002|DOID:2512|Orphanet:377 owl:Class MONDO:0022937 biolink:NamedThing deafness conductive stapedial ear malformation facial palsy tmpte7i6ely_mondo_relaxed.owl GARD:0001684 https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy owl:Class MONDO:0003468 biolink:NamedThing biphasic synovial sarcoma A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. tmpte7i6ely_mondo_relaxed.owl synovial sarcoma, biphasic (morphologic abnormality)|biphasic sarcoma of synovium|biphasic sarcoma of the synovium|synovial sarcoma, biphasic UMLS:C0334507|ICDO:9043/3|NCIT:C4279|DOID:5492 owl:Class MONDO:0001795 biolink:NamedThing plantar wart A wart in the plantar surface of the foot. It is caused by human papillomavirus. tmpte7i6ely_mondo_relaxed.owl plantar wart|verruca plantaris DOID:13775|ICD10:B07.0|ICD9:078.12|UMLS:C0042548|EFO:1002023|SCTID:63440008|NCIT:C26913 owl:Class UBERON:5006048 biolink:NamedThing digit 1 plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5002544 biolink:NamedThing digit plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006348 biolink:NamedThing pancreatic small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells. tmpte7i6ely_mondo_relaxed.owl small cell carcinoma of endocrine pancreas|pancreatic small cell NEC|endocrine pancreas small cell carcinoma|pancreatic small cell neuroendocrine carcinoma|pancreatic small cell NEC G3 UMLS:C2987240|NCIT:C95583|EFO:1000444 owl:Class HGNC:9685 biolink:NamedThing PTPRZ1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36309 biolink:NamedThing cyclic tetrapyrrole tmpte7i6ely_mondo_relaxed.owl macrocyclic tetrapyrrole|cyclic tetrapyrroles|macrocyclic tetrapyrroles owl:Class MONDO:0054754 biolink:NamedThing encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8|Herpes simplex encephalitis, Susceptibility to, 6|IIAE8 UMLS:CN865669|OMIM:617900 owl:Class MONDO:0019261 biolink:NamedThing infantile neuronal ceroid lipofuscinosis A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. tmpte7i6ely_mondo_relaxed.owl Santavuori-Haltia disease|Hagberg-Santavuori disease|INCL|infantile NCL|Santavuori disease Orphanet:79263|SCTID:58258004|ICD10:E75.4|OMIM:214200|OMIM:256730 owl:Class UBERON:0000333 biolink:NamedThing intestinal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004163 biolink:NamedThing bladder urachal urothelial carcinoma A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium. tmpte7i6ely_mondo_relaxed.owl bladder urachal urothelial carcinoma NCIT:C39844|DOID:7244|UMLS:C1511207 owl:Class MONDO:0003715 biolink:NamedThing bladder urachal carcinoma Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer. tmpte7i6ely_mondo_relaxed.owl urachal carcinoma|bladder urachal carcinoma|bladder urachal cancer ONCOTREE:URCA|NCIT:C39842|UMLS:C1511205|DOID:5958|MESH:C536475|GARD:0007836 owl:Class HGNC:10882 biolink:NamedThing SIM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016481 biolink:NamedThing silver-Russell syndrome due to 11p15 microduplication tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.1|Orphanet:231144|UMLS:CN201476 owl:Class UBERON:0003254 biolink:NamedThing amniotic ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010091 biolink:NamedThing future hindbrain meninx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010332 biolink:NamedThing epithelium of handplate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015068 biolink:NamedThing neuroendocrine tumor of rectum, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum. tmpte7i6ely_mondo_relaxed.owl neuroendocrine tumor of the rectum|rectal neuroendocrine tumor NCIT:C135213|UMLS:CN197361 owl:Class MONDO:0019303 biolink:NamedThing premature aging syndrome Changes in the organism associated with senescence, occurring at an accelerated rate. tmpte7i6ely_mondo_relaxed.owl premature aging MedDRA:10063493|Orphanet:79389|MESH:D019588 owl:Class GO:0002711 biolink:NamedThing positive regulation of T cell mediated immunity Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl up regulation of T cell mediated immunity|up-regulation of T cell mediated immunity|positive regulation of T-cell mediated immunity|stimulation of T cell mediated immunity|positive regulation of T-lymphocyte mediated immunity|upregulation of T cell mediated immunity|positive regulation of T lymphocyte mediated immunity|activation of T cell mediated immunity owl:Class MONDO:0100282 biolink:NamedThing SC phocomelia syndrome tmpte7i6ely_mondo_relaxed.owl hypomelia hypotrichosis facial hemangioma syndrome DOID:0050536|Orphanet:3103|OMIM:269000 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0100253 biolink:NamedThing Roberts-SC phocomelia syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. tmpte7i6ely_mondo_relaxed.owl phocomelia-pseudothalidomide syndrome|pseudothalidomide syndrome|Roberts-SC phocomelia syndrome|long bone deficiencies associated with cleft lip-palate|RBS NCIT:C4681|OMIM:268300 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0014388 biolink:NamedThing familial median cleft of the upper and lower lips Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. tmpte7i6ely_mondo_relaxed.owl orofacial cleft 14|OFC14 OMIM:615892|Orphanet:401942|ICD10:Q36.1 owl:Class MONDO:0012974 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 59 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 59|autosomal dominant deafness 59|DFNA59|autosomal dominant nonsyndromic deafness 59|deafness, autosomal dominant 59 UMLS:C2675238|ICD10:H90.3|MESH:C567216|OMIM:612642|DOID:0110583 owl:Class MONDO:0014585 biolink:NamedThing congenital myasthenic syndrome 3C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 3C|CMS3C OMIM:616323|Orphanet:590|Orphanet:98913|UMLS:C4225370|DOID:0110664 owl:Class UBERON:0009124 biolink:NamedThing geniculate placode tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006778 biolink:NamedThing porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. tmpte7i6ely_mondo_relaxed.owl porphyrin metabolism|porphyrin metabolic process owl:Class MONDO:0030440 biolink:NamedThing cone-rod dystrophy 22 tmpte7i6ely_mondo_relaxed.owl CORD22 OMIM:619531 owl:Class MONDO:0019568 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 2 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. tmpte7i6ely_mondo_relaxed.owl EDSCL2|EDS II, formerly|Ehlers Danlos syndrome, mild Classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, type Ii, formerly|Ehlers Danlos syndrome, mitis type|EDS II|Ehlers Danlos syndrome, mitis type, formerly|Ehlers-Danlos syndrome, type Ii|Ehlers Danlos syndrome, mild Classic type, formerly ICD10:Q79.6|NCIT:C125697|Orphanet:90318|OMIM:130010|UMLS:C0268336|MESH:C536195 owl:Class MONDO:0007522 biolink:NamedThing Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, gravis type, formerly|Ehlers-Danlos syndrome type 2 (formerly)|EDS II, formerly|EDS, classic type|EDS I, formerly|Ehlers-Danlos syndrome, gravis type|Ehlers-Danlos syndrome classic type|Ehlers-Danlos syndrome, severe classic type|Ehlers-Danlos syndrome, type I, formerly|Ehlers Danlos syndrome, mitis type|EDS II|classical Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome type 1 (formerly)|Ehlers-Danlos syndrome, type II|Ehlers Danlos syndrome, mitis type, formerly|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers Danlos syndrome, mild classic type, formerly|Ehlers Danlos syndrome, mild classic type|Ehlers-Danlos syndrome type 2|Ehlers-Danlos syndrome, type II, formerly|classic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome classical type|Ehlers-Danlos syndrome, type I|EDS I GARD:0002088|UMLS:C0220679|UMLS:C0268335|UMLS:C4225429|SCTID:715318006|Orphanet:90309|Orphanet:287|ICD10:Q79.6 owl:Class MONDO:0002142 biolink:NamedThing undifferentiated pleomorphic sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. tmpte7i6ely_mondo_relaxed.owl Storiform-pleomorphic malignant fibrous histiocytoma|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|undifferentiated pleomorphic sarcoma|Storiform-pleomorphic MFH|Storiform-pleomorphic fibrous histiocytoma|malignant fibrous histiocytoma|UPS|fibroxanthosarcoma|histiocytoma, fibrous, malignant|malignant fibrous cytoma|unclassified pleomorphic sarcoma|adult malignant fibrous histiocytoma|MFH|adult undifferentiated pleomorphic sarcoma|undifferentiated pleomorphic soft tissue sarcoma|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma")|Unclassified Pleomorphic sarcoma (formerly "MFH")|malignant fibrohistiocytic tumors|fibrous histiocytoma, malignant (morphologic abnormality)|malignant fibrous histiocytoma of soft tissue and bone|adult unclassified pleomorphic sarcoma|malignant fibrous histiocytoma of the soft tissue and bone|malignant fibroxanthoma|fibroxanthosarcoma (morphologic abnormality)|fibrous histiocytoma, malignant DOID:1907|MedDRA:10025552|ICDO:8830/3|ICD9:171.9|ONCOTREE:MFH|GARD:0006963|NCIT:C4247|EFO:1001972|ICD10:C49.9|SCTID:443439001|NCIT:C114541|Orphanet:2023|HGNC:16982|MESH:D051677 MONDO:0016069 https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma owl:Class GO:0070013 biolink:NamedThing intracellular organelle lumen An organelle lumen that is part of an intracellular organelle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007987 biolink:NamedThing Kniest dysplasia Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). tmpte7i6ely_mondo_relaxed.owl Kniest dysplasia Orphanet:485|ICD10:Q77.7|UMLS:C0265279|GARD:0006841|MESH:C537207|NCIT:C125594|DOID:0080045|ICD9:756.9|SCTID:53974002|OMIM:156550 https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia owl:Class UBERON:0018154 biolink:NamedThing ligament of middle ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000211 biolink:NamedThing ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410018 biolink:NamedThing right colic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002017 biolink:NamedThing portal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015175 biolink:NamedThing autoimmune pancreatitis Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. tmpte7i6ely_mondo_relaxed.owl lymphoplasmocytic sclerosing pancreatitis|AIP UMLS:C2609129|ICD10:K86.1|MedDRA:10069002|Orphanet:103919|SCTID:448542008|GARD:0010911|DOID:0040091 owl:Class MONDO:0000301 biolink:NamedThing ophthalmomyiasis An myiasis caused by infection with Oestrus ovis. tmpte7i6ely_mondo_relaxed.owl ophthalmomyiasis|Oestrus ovis caused myiasis|Oestrus ovis myiasis|ophthalmic myiasis DOID:0050268|SCTID:48216006|UMLS:C0027034 owl:Class MONDO:0005805 biolink:NamedThing hypodermyiasis Infestation with larvae of the genus Hypoderma, the warble fly. tmpte7i6ely_mondo_relaxed.owl Oestridae disease or disorder|Oestridae infectious disease|Oestridae caused disease or disorder DOID:12926|Orphanet:430|EFO:0007320|UMLS:C0020607|MESH:D007000 owl:Class UBERON:0007635 biolink:NamedThing nucleus of medulla oblongata tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700085 biolink:NamedThing pentasomy A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class GO:0043207 biolink:NamedThing response to external biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009607 biolink:NamedThing response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. tmpte7i6ely_mondo_relaxed.owl response to biotic stress owl:Class MONDO:0010147 biolink:NamedThing tongue, pigmented fungiform papillae of tmpte7i6ely_mondo_relaxed.owl tongue, pigmented fungiform papillae of OMIM:275250|UMLS:C1848756 owl:Class GO:0010950 biolink:NamedThing positive regulation of endopeptidase activity Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0052548 biolink:NamedThing regulation of endopeptidase activity Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpte7i6ely_mondo_relaxed.owl protease regulator activity owl:Class UBERON:0007300 biolink:NamedThing pectoral appendage blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001842 biolink:NamedThing uterine corpus dissecting leiomyoma A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. tmpte7i6ely_mondo_relaxed.owl Sternberg tumor|Cotyledonoid dissecting leiomyoma DOID:13953|UMLS:C1519847|NCIT:C40172 owl:Class CHEBI:4469 biolink:NamedThing (S)-amphetamine A 1-phenylpropan-2-amine that has S configuration. tmpte7i6ely_mondo_relaxed.owl (S)-1-phenyl-2-propylamine|(S)-(+)-amphetamine|dexamphetamine|(2S)-1-phenylpropan-2-amine|(+)-amphetamine|(alphaS)-alpha-methylbenzeneethanamine|Dextroamphetamine|(+)-alpha-methylphenethylamine|(+)-alpha-methylphenylethylamine|d-amphetamine|(S)-amphetamine|(+)-(S)-amphetamine|(S)-alpha-methylbenzeneethanamine|(S)-(+)-beta-phenylisopropylamine|(S)-1-phenyl-2-aminopropane owl:Class CHEBI:132233 biolink:NamedThing 1-phenylpropan-2-amine A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group. tmpte7i6ely_mondo_relaxed.owl 1-phenylpropan-2-amine owl:Class HGNC:7716 biolink:NamedThing NDUFV1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014399 biolink:NamedThing sinusoidal space tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010161 biolink:NamedThing lumen of blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009458 biolink:NamedThing Schimke immuno-osseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia nephrotic syndrome|Schimke IMMUNOOSSEOUS dysplasia|spondyloepiphyseal dysplasia-nephrotic syndrome|Schimke syndrome|Schimke Immunoosseous dysplasia|immunoosseous dysplasia Schimke type|Schimke immunoosseous dysplasia|IMMUNOOSSEOUS dysplasia, Schimke type|SIOD|spondyloepiphyseal dysplasia - nephrotic syndrome|Schimke immuno-osseous dysplasia OMIM:242900|UMLS:C0877024|ICD10:Q77.7|NCIT:C135087|GARD:0004984|DOID:0060490|MESH:C536629|SCTID:723995003|MedDRA:10048699|Orphanet:1830 owl:Class MONDO:0023513 biolink:NamedThing Jeune syndrome situs inversus tmpte7i6ely_mondo_relaxed.owl GARD:0000303|MESH:C537572|UMLS:C2931535 Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105 https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus owl:Class MONDO:0044337 biolink:NamedThing stromal sarcoma A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl stromal sarcoma, malignant|stromal tumor, malignant|stromal sarcoma UMLS:C1370723|ICDO:8935/3|NCIT:C6926 owl:Class HGNC:11336 biolink:NamedThing SSX2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060766 biolink:NamedThing negative regulation of androgen receptor signaling pathway Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl negative regulation of androgen receptor signalling pathway owl:Class GO:0033144 biolink:NamedThing negative regulation of intracellular steroid hormone receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl negative regulation of steroid hormone receptor signaling pathway|negative regulation of steroid hormone receptor signalling pathway owl:Class MONDO:0017629 biolink:NamedThing sodium channelopathy-related small fiber neuropathy tmpte7i6ely_mondo_relaxed.owl OMIM:615551|OMIM:133020|Orphanet:306577 owl:Class MONDO:0019187 biolink:NamedThing Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. tmpte7i6ely_mondo_relaxed.owl Rieger syndrome|RGS - Rieger syndrome|Rieger's anomaly|Axenfeldt-Rieger syndrome|iridogoniodysgenesis with somatic anomalies|Axenfeld syndrome|goniodysgenesis hypodontia|anomaly, Rieger's|Hagedoom syndrome ICD9:743.44|SCTID:47507006|UMLS:C3495488|OMIMPS:180500|Orphanet:782|ICD10:Q13.8|ICD10:Q13.81|MedDRA:10059255|OMIM:180500|GARD:0005701|NCIT:C131001|OMIM:601499|OMIM:602482|MESH:C535679|UMLS:CN776842|DOID:14686 https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome owl:Class CL:0000207 biolink:NamedThing olfactory receptor cell tmpte7i6ely_mondo_relaxed.owl olfactory receptor neuron|odorant receptor cell|Schultze's cell|olfactory sensory neuron BTO:0004185|FMA:67860|Wikipedia:Olfactory_receptor_neuron cell owl:Class MONDO:0025113 biolink:NamedThing poultry disease Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild. tmpte7i6ely_mondo_relaxed.owl poultry disease|diseases, poultry|disease, poultry UMLS:C0032851|MESH:D011201 owl:Class MONDO:0012308 biolink:NamedThing Joubert syndrome with renal defect Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 4|Joubert syndrome with renal anomalies|JBTS4|Joubert syndrome type 4|JS-R Orphanet:220497|ICD10:Q04.3|GARD:0010169|ICD10:Q61.5|OMIM:611560|OMIM:614424|DOID:0110999|MESH:C536296|SCTID:716999001|NCIT:C74997|OMIM:609583 https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies owl:Class GO:0042752 biolink:NamedThing regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002675 biolink:NamedThing positive regulation of acute inflammatory response Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. tmpte7i6ely_mondo_relaxed.owl stimulation of acute inflammatory response|upregulation of acute inflammatory response|up regulation of acute inflammatory response|up-regulation of acute inflammatory response|activation of acute inflammatory response owl:Class MONDO:0004293 biolink:NamedThing supraglottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of supraglottis|supraglottis squamous cell carcinoma|supraglottis epidermoid carcinoma|squamous cell carcinoma of supraglottis|supraglottic epidermoid carcinoma|supraglottic part of larynx squamous cell carcinoma|epidermoid carcinoma of the supraglottis|squamous cell carcinoma of the supraglottis|supraglottic squamous cell carcinoma UMLS:C0749163|NCIT:C4945|DOID:7587 owl:Class MONDO:0004357 biolink:NamedThing carcinoma of supraglottis A carcinoma of the larynx that arises from the supraglottic area. tmpte7i6ely_mondo_relaxed.owl cancer of supraglottis|cancer of the supraglottis|supraglottic carcinoma|carcinoma of supraglottic part of larynx|carcinoma of the supraglottis|supraglottic part of larynx carcinoma|supraglottis carcinoma|supraglottic cancer|supraglottic throat cancer|carcinoma of supraglottis NCIT:C5973|DOID:7763|UMLS:C1299240|SCTID:372105009 owl:Class MONDO:0009538 biolink:NamedThing lymphoid system deterioration, progressive tmpte7i6ely_mondo_relaxed.owl lymphoid system deterioration, progressive MESH:C565430|OMIM:247630|UMLS:C1855473 owl:Class MONDO:0022826 biolink:NamedThing congenital cystic eye multiple ocular and intracranial anomalies tmpte7i6ely_mondo_relaxed.owl GARD:0001479 https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies owl:Class MONDO:0022825 biolink:NamedThing congenital cystic eye tmpte7i6ely_mondo_relaxed.owl CCE GARD:0010617|Orphanet:519384 https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye owl:Class GO:0050868 biolink:NamedThing negative regulation of T cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. tmpte7i6ely_mondo_relaxed.owl inhibition of T cell activation|negative regulation of T lymphocyte activation|negative regulation of T-cell activation|downregulation of T cell activation|down regulation of T cell activation|down-regulation of T cell activation|negative regulation of T-lymphocyte activation owl:Class GO:1903038 biolink:NamedThing negative regulation of leukocyte cell-cell adhesion Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. tmpte7i6ely_mondo_relaxed.owl downregulation of leukocyte adhesion|inhibition of leukocyte cell-cell adhesion|down regulation of leukocyte adhesion|inhibition of leukocyte adhesion|inhibition of leukocyte cell adhesion|negative regulation of leukocyte adhesion|downregulation of leukocyte cell-cell adhesion|down regulation of leukocyte cell-cell adhesion|down-regulation of leukocyte adhesion|negative regulation of leukocyte cell adhesion|downregulation of leukocyte cell adhesion|down-regulation of leukocyte cell-cell adhesion|down regulation of leukocyte cell adhesion|down-regulation of leukocyte cell adhesion owl:Class MONDO:0012215 biolink:NamedThing myofibrillar myopathy 3 A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. tmpte7i6ely_mondo_relaxed.owl myotilinopathy|distal myotilinopathy|LGMD1A|limb-girdle muscular dystrophy due to myotilin deficiency|autosomal dominant distal myopathy caused by mutation in MYOT|autosomal dominant limb-girdle muscular dystrophy type 1A|myofibrillar myopathy type 3|muscular dystrophy limb-girdle type 1A|myopathy, myofibrillar, myotilin-related|myopathy, myofibrillar, 3|LGMD1|MFM3|limb-girdle muscular dystrophy type 1A|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|muscular dystrophy, proximal, type 1A|proximal muscular dystrophy type 1A|myopathy, myofibrillar, type 3|MYOT autosomal dominant distal myopathy|muscular dystrophy, limb-girdle, type 1A|MYOT autosomal dominant limb-girdle muscular dystrophy UMLS:C1836607|SCTID:719985001|ICD10:G71.8|SCTID:765196004|GARD:0010229|UMLS:C1834659|DOID:0080094|Orphanet:266|MESH:C535906|OMIM:159000|ICD10:G71.0|Orphanet:98911|MESH:C563775|DOID:0110300|OMIM:609200 https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a owl:Class UBERON:0005174 biolink:NamedThing dorsal region element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008864 biolink:NamedThing Biemond syndrome type 2 Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. tmpte7i6ely_mondo_relaxed.owl BIEMOND syndrome II|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|Biemond syndrome type 2|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly|BS2|Biemond syndrome 2|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly GARD:0000882|Orphanet:141333|SCTID:717887003|MESH:C565902|UMLS:C1859487|OMIM:210350 Editor note: see also type 1, e.g. GARD:0000881 https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2 owl:Class MONDO:0009281 biolink:NamedThing glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. tmpte7i6ely_mondo_relaxed.owl GCDHD|glutaric acidemia I|glutaryl-coenzyme A dehydrogenase deficiency|glutaric acidemia, type 1|glutaric aciduria, type 1|Ga 1|glutaric aciduria 1|glutaric aciduria type 1|glutaric acidemia 1|glutaric acidemia type 1|GA1|glutaric acidemia type I|glutaryl-CoA dehydrogenase deficiency|glutaric aciduria type I MESH:C536833|SCTID:76175005|DOID:0111254|OMIM:231670|Orphanet:25|NCIT:C99101|GARD:0006522|ICD10:E72.3|UMLS:C0268595 owl:Class MONDO:0016803 biolink:NamedThing unspecified inborn mitochondrial disorder tmpte7i6ely_mondo_relaxed.owl unspecified mitochondrial disorder UMLS:CN227004|Orphanet:254837 owl:Class MONDO:8000003 biolink:NamedThing streptococcus pneumoniae discitis Discitis caused by infection with Streptococcus pneumoniae. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004471 biolink:NamedThing bacterial arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpte7i6ely_mondo_relaxed.owl pyogenic arthritis|septic arthritis|infectious arthritis ICD9:711.0|ICD9:711.40|DOID:813|EFO:1001351|ICD9:711.9|ICD9:711.95|ICD9:711.90|ICD9:711.94|ICD9:711.97|NCIT:C26699|ICD10:M00|ICD9:711.93|NCIT:C26700|MESH:D001170|SCTID:48245008|ICD9:711.96|ICD9:711.91|ICD10:M00.9|ICD9:711.92 owl:Class MONDO:0018138 biolink:NamedThing ocular albinism with congenital sensorineural hearing loss tmpte7i6ely_mondo_relaxed.owl ocular albinism with sensorineural deafness|albinism, ocular, with sensorineural deafness|ocular albinism with congenital sensorineural deafness|Waardenburg syndrome type 2 with ocular albinism|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive|WS2-OA|digenic Waardenburg syndrome/ocular albinism|autosomal recessive Waardenburg syndrome type 2 with ocular albinism|digenic Waardenburg syndrome/albinism UMLS:C1863198|OMIM:103470|DOID:0090100|Orphanet:352740|ICD10:E70.3 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0032635 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 32 tmpte7i6ely_mondo_relaxed.owl MC1DN32|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 OMIM:618252 owl:Class UBERON:0010258 biolink:NamedThing mesenchyme from rhombencephalic neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008157 biolink:NamedThing Buschke-Ollendorff syndrome Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin. tmpte7i6ely_mondo_relaxed.owl Buschke Ollendorff syndrome|dermatofibrosis lenticularis disseminata with osteopoikilosis|dermatofibrosis, disseminated with osteopoikilosis|osteopoikilosis, isolated|dermatofibrosis lenticularis disseminata, isolated|Bos|dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|Dermatoosteopoikilosis|osteopoikilosis with melorheostosis|disseminated dermatofibrosis with osteopoikilosis|Buschke-Ollendorff syndrome GARD:0001044|Orphanet:1306|DOID:0111536|MESH:C537415|OMIM:166700|Orphanet:166119|ICD10:Q78.8 owl:Class UBERON:0003548 biolink:NamedThing forebrain meninges tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014510 biolink:NamedThing fatty acyl-CoA reductase 1 deficiency tmpte7i6ely_mondo_relaxed.owl fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|FAR1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|peroxisomal fatty acyl-CoA reductase 1 disorder|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|rhizomelic chondrodysplasia punctata type 4|fatty acyl-CoA reductase 1 deficiency|fatty acyl-CoA reductase 1 disorder|PFCRD Orphanet:438178|UMLS:C4015344|OMIM:616154|ICD10:E71.3 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:2858 biolink:NamedThing DGUOK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014848 biolink:NamedThing TELO2-related intellectual disability-neurodevelopmental disorder tmpte7i6ely_mondo_relaxed.owl you-Hoover-Fong syndrome|YHFS OMIM:616954|Orphanet:488642|EFO:0009061|UMLS:C4310778 owl:Class UBERON:0009480 biolink:NamedThing endoderm of buccopharyngeal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001739 biolink:NamedThing radiation quality A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034754 biolink:NamedThing cellular hormone metabolic process The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042445 biolink:NamedThing hormone metabolic process The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpte7i6ely_mondo_relaxed.owl hormone metabolism owl:Class UBERON:0010410 biolink:NamedThing inguinal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003838 biolink:NamedThing abdominal segment connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9360 biolink:NamedThing PRF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:882 biolink:NamedThing ATR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016066 biolink:NamedThing sternal cleft Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated. tmpte7i6ely_mondo_relaxed.owl cleft sternum|sternum bifidum|congenital sternal cleft ICD9:756.3|UMLS:C2931507|Orphanet:2017|ICD10:Q76.7|GARD:0005012|SCTID:54008006|MESH:C537489 https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft owl:Class MONDO:0016981 biolink:NamedThing infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome tmpte7i6ely_mondo_relaxed.owl infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410|UMLS:CN202284 owl:Class MONDO:0006650 biolink:NamedThing anterior spinal artery syndrome Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) tmpte7i6ely_mondo_relaxed.owl syndromic disease of anterior spinal artery|anterior spinal artery syndromic disease MedDRA:10002703|MESH:D020759|ICD9:433.80|UMLS:C0221069|SCTID:2972007|EFO:1000810|DOID:6712 owl:Class MONDO:0010005 biolink:NamedThing saccharopinuria Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. tmpte7i6ely_mondo_relaxed.owl saccharopine dehydrogenase deficiency|Alpha-aminoadipic semialdehyde synthase deficiency|saccharopinuria|hyperlysinemia type II|hyperlysinemia, type 2 ICD9:270.7|OMIM:268700|MESH:C537218|ICD10:E72.3|Orphanet:3124|SCTID:111397004|GARD:0000314|UMLS:C0268556 owl:Class MONDO:0017351 biolink:NamedThing inborn disorder of lysine and hydroxylysine metabolism tmpte7i6ely_mondo_relaxed.owl disorder of lysine and hydroxylysine metabolism ICD9:270.8|Orphanet:289832|SCTID:237929000|ICD9:270.7|ICD10:E72.3 owl:Class HsapDv:0000121 biolink:NamedThing 27-year-old human stage Adult stage that refers to an adult who is over 27 and under 28. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008830 biolink:NamedThing aspartylglucosaminuria Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). tmpte7i6ely_mondo_relaxed.owl Glycoasparaginase|glycosylasparaginase deficiency|aspartylglycosaminuria|aspartylglucosaminuria|AGU|aspartylglucosaminidase deficiency|Aga deficiency|Aspartylglucosamidase (AGA) deficiency MESH:D054880|ICD10:E77.1|Orphanet:93|OMIM:208400|MedDRA:10068220|GARD:0005854|SCTID:54954004|NCIT:C61273|UMLS:C0268225|DOID:0050461 owl:Class MONDO:0001173 biolink:NamedThing acute salpingitis Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpte7i6ely_mondo_relaxed.owl salpingitis, acute ICD10:N70.01|NCIT:C40120|DOID:10973|UMLS:C0269038|SCTID:8912009 owl:Class HP:0003202 biolink:NamedThing Skeletal muscle atrophy The presence of skeletal muscular atrophy (which is also known as amyotrophy). tmpte7i6ely_mondo_relaxed.owl Neurogenic muscular atrophy|Amyotrophy involving the extremities|Muscle degeneration|Muscular atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Amyotrophy|Neurogenic muscle atrophy|Muscle atrophy, neurogenic|Muscle wasting|Muscle hypotrophy|Muscle atrophy UMLS:C0234958|MSH:D009133|UMLS:C0541794|SNOMEDCT_US:74035001|UMLS:C0270948|UMLS:C1843479 HP:0003671|HP:0006995|HP:0001299|HP:0009010|HP:0009048|HP:0007171|HP:0007356|HP:0003545|HP:0100868|HP:0003702|HP:0003746 human_phenotype owl:Class HP:0030236 biolink:NamedThing Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. tmpte7i6ely_mondo_relaxed.owl Abnormality of muscle size UMLS:C4022563 human_phenotype owl:Class MONDO:0022909 biolink:NamedThing cutis laxa osteoporosis tmpte7i6ely_mondo_relaxed.owl GARD:0001637 https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis owl:Class HGNC:12513 biolink:NamedThing UCHL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005057 biolink:NamedThing immune organ tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30778 biolink:NamedThing GATAD2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024613 biolink:NamedThing bipolar depression The depressive stage of bipolar disorder. tmpte7i6ely_mondo_relaxed.owl manic-depressive - now depressed|bipolar affective disorder, current episode depression|bipolar depression NCIT:C34424|SCTID:191627008 owl:Class MONDO:0004656 biolink:NamedThing rubella A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. tmpte7i6ely_mondo_relaxed.owl three-Day Measles|Rubella infection|Rubella virus disease or disorder|Rubella virus caused disease or disorder|three day measles|Rubella virus infectious disease|german measles EFO:1002026|SCTID:36653000|ICD9:056|ICD10:B06.9|ICD10:B06|NCIT:C85051|MESH:D012409|GARD:0004742|UMLS:C0035920|DOID:8781 https://rarediseases.info.nih.gov/diseases/4742/rubella owl:Class MONDO:0013270 biolink:NamedThing Rett syndrome, congenital variant tmpte7i6ely_mondo_relaxed.owl Rett syndrome, congenital variant Orphanet:3095|OMIM:613454|UMLS:C3150705 owl:Class MONDO:0024277 biolink:NamedThing neonatal thrombocytopenia tmpte7i6ely_mondo_relaxed.owl purpura of newborn|neonatal thrombocytopenia|neonatal purpura MESH:D054098|SCTID:82835005 owl:Class MONDO:0002049 biolink:NamedThing thrombocytopenia A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. tmpte7i6ely_mondo_relaxed.owl platelet count decreased|thrombocytopenic disorder UMLS:C0040034|UMLS:CN130080|OMIM:188000|OMIM:300367|ICD9:287.5|OMIM:612004|OMIM:273900|DOID:1588|ICD10:D69.6|NCIT:C3408|Orphanet:852|SCTID:302215000|OMIM:313900|MESH:D013921 owl:Class MONDO:0017710 biolink:NamedThing congenital systemic veins anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:3091 owl:Class CHEBI:50816 biolink:NamedThing iron oxide tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24873 biolink:NamedThing iron molecular entity tmpte7i6ely_mondo_relaxed.owl iron molecular entity|iron molecular entities|iron compounds owl:Class NCBITaxon:83137 biolink:NamedThing Sarcoptiformes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6946 biolink:NamedThing Acariformes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002750 biolink:NamedThing bladder colloid adenocarcinoma tmpte7i6ely_mondo_relaxed.owl bladder mucinous adenocarcinoma UMLS:C1511193|DOID:3710|NCIT:C39837 owl:Class MONDO:0002751 biolink:NamedThing bladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urinary bladder tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of urinary bladder|adenocarcinoma of the urinary bladder|blad|bladder adenocarcinoma|adenocarcinoma of the bladder|adenocarcinoma of bladder|urinary bladder adenocarcinoma ONCOTREE:BLAD|SCTID:255110003|DOID:3711|NCIT:C4032|EFO:1000125|UMLS:C0279682 owl:Class CHEBI:50313 biolink:NamedThing onium cation Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. tmpte7i6ely_mondo_relaxed.owl onium ion|onium cations|onium ions owl:Class CHEBI:50312 biolink:NamedThing onium compound tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0019019 biolink:NamedThing tracheobronchial smooth muscle cell A smooth muscle cell that is part of the tracheobronchial tree. tmpte7i6ely_mondo_relaxed.owl smooth muscle cell of tracheobronchial tree 2020-07-21 12:50:22+00:00 owl:Class MONDO:0002815 biolink:NamedThing acute myocarditis The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. tmpte7i6ely_mondo_relaxed.owl myocarditis, acute ICD9:422.99|UMLS:C0155686|ICD10:I40.9|NCIT:C35206|DOID:3951|ICD9:422|ICD10:I40|SCTID:46701001|ICD9:422.90 owl:Class UBERON:0005800 biolink:NamedThing section of aorta tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018740 biolink:NamedThing drug-induced methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). tmpte7i6ely_mondo_relaxed.owl acquired methemoglobinemia|drug induced methemoglobinemia SCTID:191390009|NCIT:C101045|ICD10:D74.8|Orphanet:464453|UMLS:C0271905 owl:Class MONDO:0044349 biolink:NamedThing acquired hemoglobinopathy An instance of hemoglobinopathy that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired hemoglobinopathy SCTID:127039000|UMLS:C1263995 owl:Class MONDO:0000470 biolink:NamedThing endocardium disorder A disease involving the endocardium. tmpte7i6ely_mondo_relaxed.owl endocardiopathy|disease of endocardium|endocardium disease or disorder|disorder of endocardium|endocardium disease|disease or disorder of endocardium|endocardial disease SCTID:123596001|UMLS:C0854140|DOID:0050825 owl:Class MONDO:0022648 biolink:NamedThing cardiomyopathy and deafness due to tRNA lysine gene mutation A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy and deafness due to MTTK gene mutation|cardiomyopathy and deafness due to tRNA lysine gene mutation UMLS:CN036924|GTR:AN0103739|GTR:AN0103738|GARD:0001108|HGNC:7489 https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation owl:Class MONDO:0005967 biolink:NamedThing splenic tuberculosis Infection of the spleen with species of mycobacterium. tmpte7i6ely_mondo_relaxed.owl SCTID:28399005|MESH:D014400|DOID:9305|ICD9:017.7|EFO:0007492|ICD10:A18.85|UMLS:C0041331 owl:Class MONDO:0003351 biolink:NamedThing colon leiomyosarcoma An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl colon leiomyosarcoma|colonic leiomyosarcoma|leiomyosarcoma of the colon|leiomyosarcoma of colon UMLS:C1333093|NCIT:C5494|DOID:5259 owl:Class UBERON:0015453 biolink:NamedThing subcutaneous lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007213 biolink:NamedThing Ballard syndrome Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. tmpte7i6ely_mondo_relaxed.owl brachydactyly combined B and E types|brachydactyly, Ballard type|brachydactyly, combined B and E types|brachydactyly Ballard type|brachydactyly types B and E combined|Ballard type brachydactyly|Pitt-Williams brachydactyly|Pitt Williams brachydactyly SCTID:722298001|ICD10:Q73.8|MESH:C537094|GARD:0000959|OMIM:112440|DOID:0110963|Orphanet:93395|UMLS:C1862163 owl:Class MONDO:0021004 biolink:NamedThing brachydactyly A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. tmpte7i6ely_mondo_relaxed.owl brachydactyly (disease)|brachydactyly brachydactyly (disease) HP:0001156|MESH:D059327|DOID:0050581 owl:Class CHEBI:27690 biolink:NamedThing acetazolamide tmpte7i6ely_mondo_relaxed.owl 2-acetylamino-1,3,4-thiadiazole-5-sulfonamide|Acetazolamide|Glaupax|acetazolamide|Diacarb|Defiltran|5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE|N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide|acetazolamidum|N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide|5-acetylamino-1,3,4-thiadiazole-2-sulfonamide|N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide|Diluran|acetazolamida|Diamox owl:Class ECTO:4000003 biolink:NamedThing exposure to decreased salt A exposure event involving the interaction of an exposure receptor to decreased amount of salt. tmpte7i6ely_mondo_relaxed.owl exposure to decreased amount in salt owl:Class HGNC:11742 biolink:NamedThing TFAP2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015067 biolink:NamedThing neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon. tmpte7i6ely_mondo_relaxed.owl carcinoid tumor of colon|NET of the colon|colon neuroendocrine tumor|neuroendocrine neoplasm of the colon|colonic NET NCIT:C135212 owl:Class MONDO:0004410 biolink:NamedThing sarcomatoid penile squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells. tmpte7i6ely_mondo_relaxed.owl sarcomatous carcinoma of the penis|squamous cell carcinoma of the penis, sarcomatoid type|sarcomatoid penile carcinoma|sarcomatoid penile squamous cell carcinoma|sarcomatoid carcinoma of the penis|squamous cell carcinoma of penis, sarcomatoid type|spindle cell carcinoma of the penis DOID:7958|UMLS:C1335923|NCIT:C6984 owl:Class UBERON:0002405 biolink:NamedThing immune system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008931 biolink:NamedThing Cenani-Lenz syndactyly syndrome Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. tmpte7i6ely_mondo_relaxed.owl Cenani-Lenz syndactyly syndrome|Cenani syndactyly|CLSS|Cenani-Lenz syndactyly|syndactyly type 7|Cenani syndactylism|Cenani-Lenz type syndactyly|syndactyly Cenani Lenz type|syndactyly, type 7|Cenani-Lenz syndrome GARD:0005084|DOID:0090015|ICD10:Q78.4|MESH:C538150|OMIM:212780|SCTID:720633009|Orphanet:3258|UMLS:C1859309 owl:Class MONDO:0003047 biolink:NamedThing thymic large cell neuroendocrine carcinoma An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. tmpte7i6ely_mondo_relaxed.owl Thymus large cell carcinoma|large cell neuroendocrine carcinoma of the Thymus|thymic LCNEC|large cell carcinoma of the Thymus|thymus large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of Thymus|thymic large cell neuroendocrine carcinoma|thymus large cell carcinoma|large cell neuroendocrine carcinoma of thymus DOID:4553|UMLS:C1334364|NCIT:C6461 owl:Class HGNC:15512 biolink:NamedThing VANGL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033642 biolink:NamedThing neurodevelopmental disorder with alopecia and brain abnormalities tmpte7i6ely_mondo_relaxed.owl NEDABA OMIM:619075 owl:Class MONDO:0012240 biolink:NamedThing nemaline myopathy 4 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy 4|Cap myopathy 2|nemaline myopathy 4, autosomal dominant|NEM4|nemaline myopathy caused by mutation in TPM2|nemaline myopathy type 4|TPM2 nemaline myopathy Orphanet:607|UMLS:C1836447|OMIM:609285|Orphanet:171881|DOID:0110932|MESH:C538351 owl:Class MONDO:0017920 biolink:NamedThing deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). tmpte7i6ely_mondo_relaxed.owl short stature, mental retardation and multiple dysmorphisms|short stature, intellectual disability and multiple dysmorphisms|Pfeiffer Kapferer syndrome|sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5|Pfeiffer-Kapferer syndrome MESH:C537887|UMLS:C2931654|SCTID:721086004|Orphanet:3224|GARD:0004303|ICD10:Q87.8 owl:Class GO:0005583 biolink:NamedThing fibrillar collagen trimer Any triple helical collagen trimer that forms fibrils. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006356 biolink:NamedThing epigastric vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003342 biolink:NamedThing mucosa of anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013982 biolink:NamedThing ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|ECTD11A OMIM:614940|UMLS:C3541517|Orphanet:1810|Orphanet:238468|DOID:0111653 owl:Class GO:0060560 biolink:NamedThing developmental growth involved in morphogenesis The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape. tmpte7i6ely_mondo_relaxed.owl differential growth owl:Class MONDO:0009672 biolink:NamedThing spinal muscular atrophy, type III Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpte7i6ely_mondo_relaxed.owl type III spinal muscular atrophy|pediatric spinal muscular atrophy|KWS|Kugelberg-Welander syndrome|Kugelberg-Welander disease|Sma 3|spinal muscular atrophy of childhood|spinal muscular atrophy, type III|spinal muscular atrophy, familial|spinal muscular atrophy III|spinal muscular atrophy type 3|spinal muscular atrophy, mild childhood and adolescent form|proximal spinal muscular atrophy type 3|juvenile spinal muscular atrophy|SMA type 3|SMA 3|childhood spinal muscular atrophy|SMA type III|SMA-III|muscular atrophy, juvenile|spinal muscular atrophy, type 3|SMA3 ICD9:335.11|OMIM:253400|Orphanet:83419|ICD10:G12.1|UMLS:C0700595|SCTID:54280009|Orphanet:70|NCIT:C118847|DOID:12376|UMLS:C0152109|GARD:0000198 owl:Class UBERON:0004268 biolink:NamedThing lower arm connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008233 biolink:NamedThing pheochromocytoma tmpte7i6ely_mondo_relaxed.owl phaeochromocytoma|pheochromocytoma|pheochromocytoma, susceptibility to Orphanet:29072|DOID:0050771|OMIM:171300|ONCOTREE:PHC owl:Class MONDO:0013762 biolink:NamedThing lipoic acid synthetase deficiency Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl hyperglycinemia, lactic acidosis, and seizures|HGCLAS|PDHLD|pyruvate dehydrogenase lipoic acid synthetase deficiency ICD10:E88.8|GARD:0012678|UMLS:C3280887|Orphanet:401859|OMIM:614462 https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency owl:Class MONDO:0018100 biolink:NamedThing familial primary hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. tmpte7i6ely_mondo_relaxed.owl familial primary hypomagnesemia|hypomagnesemia|primary familial hypomagnesemia|HOMG OMIMPS:602014|NCIT:C123263|GARD:0002906|Orphanet:34526|DOID:0060879|SCTID:80710001|ICD10:E83.4 owl:Class MONDO:0021605 biolink:NamedThing benign eyelid neoplasm A non-metastasizing neoplasm that arises from the upper or lower eyelid. tmpte7i6ely_mondo_relaxed.owl benign tumor of the eyelid|eyelid benign neoplasm|benign eyelid tumor|benign eyelid neoplasm|benign tumor of eyelid|benign neoplasm of the eyelid|benign neoplasm of eyelid SCTID:231824001|NCIT:C4354|UMLS:C0339107 owl:Class MONDO:0018564 biolink:NamedThing 3p25.3 microdeletion syndrome 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. tmpte7i6ely_mondo_relaxed.owl monosomy 3p25.3|Del(3)p(25.3)|intellectual disability-epilepsy-stereotypic hand movement syndrome ICD10:Q93.5|Orphanet:435638|UMLS:CN237571 owl:Class MONDO:0044704 biolink:NamedThing oropharynx squamous cell carcinoma A squamous cell carcinoma that involves the oropharynx. tmpte7i6ely_mondo_relaxed.owl oropharyngeal throat squamous cell cancer|epidermoid carcinoma of oropharynx|oropharyngeal squamous cell carcinoma|oropharyngeal epidermoid carcinoma|squamous cell carcinoma of oropharynx|squamous cell carcinoma of the oropharynx|epidermoid carcinoma of the oropharynx ONCOTREE:OPHSC|Orphanet:500478|NCIT:C8181 owl:Class GO:0072522 biolink:NamedThing purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpte7i6ely_mondo_relaxed.owl purine-containing compound formation|purine-containing compound biosynthesis|purine and derivative biosynthetic process|purine-containing compound synthesis|purine-containing compound anabolism owl:Class MONDO:0011573 biolink:NamedThing psoriasis 7, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS7|psoriasis 7, susceptibility to OMIM:605606|DOID:0111279 owl:Class MONDO:0019499 biolink:NamedThing Turner syndrome Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. tmpte7i6ely_mondo_relaxed.owl genital dwarfism, Turner type|gonadal dysgenesis|45, X syndrome|Schereshevkii Turner syndrome|45,X gonadal dysgenesis|45,X0 syndrome|Bonnevie-Ullrich syndrome|chromosome X monosomy X|XO syndrome|Bonnevie-Ulrich syndrome|monosomy X|karyotype 45, X|45,X syndrome|Ullrich-Turner syndrome|45,X/46,XX syndrome|monosomy X syndrome|gonadal dysgenesis - Turner|Turner Varny syndrome|gonadal dysgenesis Turner type|45X syndrome|gonadal dysgenesis (45,X)|genital dwarfism ICD10:Q96.3|DOID:3491|UMLS:C0041408|ICD9:758.7|ICD10:Q96.4|MESH:D014424|ICD10:Q96.9|ICD10:Q96|MedDRA:10045181|ICD10:Q96.8|ICD10:Q96.2|GARD:0002540|ICD10:Q96.1|GARD:0002458|SCTID:38804009|GARD:0007831|GARD:0002459|NCIT:C26900|Orphanet:881|ICD10:Q96.0 Editor note: consider splitting BU syndrome https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome|https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism|https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type owl:Class MONDO:0008751 biolink:NamedThing corticosterone methyloxidase type 1 deficiency tmpte7i6ely_mondo_relaxed.owl corticosterone methyloxidase type 1 deficiency|CMO 1 deficiency|corticosterone 18-monooxygenase deficiency|corticosterone methyl oxidase type II deficiency|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency due to defect in 18 hydroxylase|18-hydroxycorticosterone dehydrogenase deficiency|CAH - 18-hydroxylase deficiency|18 Hydroxylase deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|18 alpha hydroxylase deficiency|aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|corticosterone methyloxidase type I deficiency|aldosterone deficiency 1|CMO I deficiency|18-hydroxylase deficiency|CMO II deficiency|aldosterone deficiency due to 18-hydroxylase defect|steroid 18-hydroxylase deficiency|18-Hydroxylase deficiency|corticosterone methyl oxidase type I deficiency OMIM:203400|SCTID:47757001|GARD:0005660|UMLS:CN074214|Orphanet:427|Orphanet:99763|DOID:0080626 https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency owl:Class MONDO:0015568 biolink:NamedThing isolated congenital nasal pyriform aperture stenosis tmpte7i6ely_mondo_relaxed.owl isolated apertura pyriformis stenosis|isolated nasal pyriform aperture hypoplasia ICD10:Q30.8|Orphanet:162516 owl:Class MONDO:0044655 biolink:NamedThing c12orf65-related combined oxidative phosphorylation defect tmpte7i6ely_mondo_relaxed.owl C12ORF65-related COXPD Orphanet:497623 owl:Class HP:0012759 biolink:NamedThing Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022737 This term should be used to describe abnormalities with onset in the developmental period. peter 2014-04-03T12:20:28Z human_phenotype owl:Class MONDO:0016904 biolink:NamedThing partial deletion of the long arm of chromosome 5 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome 5q|partial monosomy of the long arm of chromosome 5|partial monosomy of chromosome 5q|partial deletion of the long arm of chromosome type 5 Orphanet:262038|ICD10:Q93.5 owl:Class MONDO:0016870 biolink:NamedThing partial deletion of chromosome 5 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 5|partial monosomy of chromosome 5 Orphanet:261786 owl:Class MONDO:0019889 biolink:NamedThing distal trisomy 22q Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. tmpte7i6ely_mondo_relaxed.owl distal duplication 22q|telomeric duplication 22q|distal trisomy type 22q|trisomy 22qter ICD10:Q92.3|SCTID:764512003|Orphanet:96109 owl:Class MONDO:0016972 biolink:NamedThing partial duplication of the long arm of chromosome 22 tmpte7i6ely_mondo_relaxed.owl partial duplication of the long arm of chromosome type 22|partial trisomy of the long arm of chromosome 22|partial trisomy of chromosome 22q|partial duplication of chromosome 22q Orphanet:263004 owl:Class MONDO:0009283 biolink:NamedThing glutaric acidemia type 3 Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl glutaric aciduria III|glutaryl-CoA oxidase deficiency|glutaric aciduria (disease) caused by mutation in SUGCT|GA III|glutaric aciduria type 3|glutaric aciduria type III|Ga 3|GA3|glutaryl-Coa oxidase deficiency|SUGCT glutaric aciduria (disease)|glutaric acidemia type III|glutaric aciduria 3|glutaric acidemia type 3 UMLS:C0342873|ICD10:E72.3|MESH:C562818|SCTID:238070003|OMIM:231690|Orphanet:35706|GARD:0012469|ICD9:270.2 https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii owl:Class MONDO:0030296 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 4 tmpte7i6ely_mondo_relaxed.owl megacystis-microcolon-intestinal hypoperistalsis syndrome 4|MMIHS4 OMIM:619365 owl:Class MONDO:0024888 biolink:NamedThing mesonephric neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. tmpte7i6ely_mondo_relaxed.owl mesonephroma|mesonephric neoplasm|Wolffian duct tumor|mesonephric duct tumor|mesonephric duct neoplasm|mesonephric tumor|neoplasm of mesonephric duct|Wolffian duct neoplasm|tumor of mesonephric duct ICDO:9110/1|NCIT:C4295 owl:Class MONDO:0019358 biolink:NamedThing encephalopathy due to sulfite oxidase deficiency Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. tmpte7i6ely_mondo_relaxed.owl OMIM:272300|ICD10:E72.1|SCTID:715980003|OMIM:615501|OMIM:252160|OMIM:252150|Orphanet:833|UMLS:C4275019 owl:Class MONDO:0019222 biolink:NamedThing inborn disorder of methionine cycle and sulfur amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. tmpte7i6ely_mondo_relaxed.owl cytosolic methyl group transfer or sulfur amino acid metabolism disorder|inborn sulfur amino acid metabolic process disorder|disorder of methionine cycle and sulfur amino acid metabolism|rare inborn error of sulfur amino acid metabolic process|inborn error of sulfur amino acid metabolic process SCTID:28882002|ICD10:E72.1|Orphanet:79173|ICD9:270.4|UMLS:CN227589 Editor note: check this owl:Class MONDO:0008423 biolink:NamedThing sinus node disease and myopia tmpte7i6ely_mondo_relaxed.owl sinus node disease and myopia|Sss-myopia syndrome|sick sinus syndrome and myopia MESH:C566690|OMIM:182190|Orphanet:166282|UMLS:C1866960|GARD:0004880 https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia owl:Class HP:0030050 biolink:NamedThing Narcolepsy An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. tmpte7i6ely_mondo_relaxed.owl MSH:D009290|UMLS:C0027404|SNOMEDCT_US:60380001 There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. human_phenotype owl:Class HP:0002360 biolink:NamedThing Sleep disturbance An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. tmpte7i6ely_mondo_relaxed.owl Sleep dysfunction|Difficulty sleeping|Trouble sleeping|Sleep disturbances UMLS:C0037317|SNOMEDCT_US:53888004 human_phenotype owl:Class HGNC:2309 biolink:NamedThing CPLX1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002548 biolink:NamedThing fibroblast of cardiac tissue A fibroblast that is part of the heart. tmpte7i6ely_mondo_relaxed.owl cardiac fibroblast tmeehan 2011-02-28T04:57:44Z cell owl:Class MONDO:0014705 biolink:NamedThing craniosynostosis 6 Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene. tmpte7i6ely_mondo_relaxed.owl CRS6|ZIC1 craniosynostosis|craniosynostosis 6|craniosynostosis type 6|craniosynostosis caused by mutation in ZIC1 OMIM:616602|UMLS:C4225269 owl:Class CHEBI:15966 biolink:NamedThing D-glutamic acid An optically active form of glutamic acid having D-configuration. tmpte7i6ely_mondo_relaxed.owl D-2-Aminoglutaric acid|D-Glutamic acid|D-glutamic acid|(R)-2-aminopentanedioic acid|DGL|D-Glutaminic acid|glutamic acid D-form|D-Glutaminsaeure|(2R)-2-aminopentanedioic acid owl:Class CHEBI:18237 biolink:NamedThing glutamic acid An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2. tmpte7i6ely_mondo_relaxed.owl glutamic acid|2-Aminoglutaric acid|2-aminopentanedioic acid|Glu|Glutamic acid|DL-Glutaminic acid|E|Glutaminic acid|Glutaminsaeure|Glutamate|DL-Glutamic acid owl:Class MONDO:0017394 biolink:NamedThing ketamine-induced biliary dilatation Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. tmpte7i6ely_mondo_relaxed.owl SCTID:726613003|Orphanet:293807|UMLS:C4512018|UMLS:CN227122 owl:Class GO:1904057 biolink:NamedThing negative regulation of sensory perception of pain Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain. tmpte7i6ely_mondo_relaxed.owl downregulation of perception of physiological pain|down regulation of perception of physiological pain|down regulation of nociception|down-regulation of nociception|down regulation of sensory perception of pain|down-regulation of perception of physiological pain|inhibition of sensory perception of pain|negative regulation of nociception|negative regulation of perception of physiological pain|inhibition of perception of physiological pain|downregulation of sensory perception of pain|downregulation of nociception|down-regulation of sensory perception of pain|inhibition of nociception owl:Class GO:0051930 biolink:NamedThing regulation of sensory perception of pain Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002138 biolink:NamedThing allergic contact dermatitis of eyelid A allergic contact dermatitis that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl eyelid allergic contact dermatitis|contact and allergic dermatitis of eyelid DOID:1895|SCTID:402249007|ICD9:373.32|UMLS:C0155178|ICD9:692.9 owl:Class MONDO:0006525 biolink:NamedThing allergic contact dermatitis An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. tmpte7i6ely_mondo_relaxed.owl allergic contact dermatitis|allergic form of contact dermatitis MESH:D017449|UMLS:C0162820|ICD10:L23.9|SCTID:238575004|ICD9:692.9|DOID:3042|ICD10:L23|NCIT:C26998|EFO:1000668 owl:Class MONDO:0017913 biolink:NamedThing pure or complex hereditary spastic paraplegia tmpte7i6ely_mondo_relaxed.owl Pure or complicated hereditary spastic paraplegia|Pure or complex familial spastic paraplegia|Pure or complicated familial spastic paraplegia ICD10:G11.4|Orphanet:320335|UMLS:CN227219 owl:Class NCBITaxon:194440 biolink:NamedThing Primate T-lymphotropic virus 1 tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:153136 biolink:NamedThing Deltaretrovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016092 biolink:NamedThing serous or mucinous cystadenoma of childhood Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. tmpte7i6ely_mondo_relaxed.owl serous cystadenoma of ovary in childhood|mucinous cystadenoma of ovary in childhood Orphanet:206470|ICD10:D27 owl:Class MONDO:0013960 biolink:NamedThing sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. tmpte7i6ely_mondo_relaxed.owl sinoatrial node dysfunction and deafness|SANDD OMIM:614896|Orphanet:324321|UMLS:C3554018 owl:Class MONDO:0009946 biolink:NamedThing hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. tmpte7i6ely_mondo_relaxed.owl hemolytic Anemia due to P5N deficiency|uridine 5'-monophosphate hydrolase deficiency|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to|hemolytic Anemia due to Umph1 deficiency|Umph1 deficiency|UMPH1 deficiency|P5N deficiency OMIM:266120|UMLS:C1849507|ICD10:D55.3|Orphanet:35120|MESH:C564859 owl:Class GO:0050866 biolink:NamedThing negative regulation of cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation. tmpte7i6ely_mondo_relaxed.owl down regulation of cell activation|inhibition of cell activation|downregulation of cell activation|down-regulation of cell activation owl:Class GO:0050865 biolink:NamedThing regulation of cell activation Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042753 biolink:NamedThing positive regulation of circadian rhythm Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. tmpte7i6ely_mondo_relaxed.owl activation of circadian rhythm|up regulation of circadian rhythm|upregulation of circadian rhythm|stimulation of circadian rhythm|up-regulation of circadian rhythm owl:Class HP:0000522 biolink:NamedThing Alacrima Absence of tear secretion. tmpte7i6ely_mondo_relaxed.owl Absence of tears in the eyes|Absent tear secretion|Absent lacrimal fluids MSH:C562827|UMLS:C0344505|SNOMEDCT_US:253215004 Alacrima is generally a congenital deficiency. human_phenotype owl:Class HP:0000633 biolink:NamedThing Decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears. tmpte7i6ely_mondo_relaxed.owl Decreased tear secretion UMLS:C0235857 human_phenotype owl:Class MONDO:0015927 biolink:NamedThing idiopathic eosinophilic pneumonia tmpte7i6ely_mondo_relaxed.owl SCTID:708031000|Orphanet:182101|UMLS:C3872845|ICD10:J82 owl:Class MONDO:0005749 biolink:NamedThing eosinophilic pneumonia An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. tmpte7i6ely_mondo_relaxed.owl eosinophilic pneumonia|pneumonia, eosinophilic ICD10:J82|UMLS:C1527407|DOID:5870|NCIT:C35150|EFO:0007257 owl:Class MONDO:0014004 biolink:NamedThing basal ganglia calcification, idiopathic, 4 tmpte7i6ely_mondo_relaxed.owl basal ganglia calcification, idiopathic, 4|IBGC4|basal ganglia calcification, idiopathic, type 4 OMIM:615007|Orphanet:1980|UMLS:C3554321 owl:Class MONDO:0003163 biolink:NamedThing cauda equina intradural extramedullary astrocytoma tmpte7i6ely_mondo_relaxed.owl intradural extramedullary astrocytic tumor of the Cauda equina|intradural extramedullary Cauda equina astrocytoma|intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary astrocytoma of Cauda equina UMLS:C1334254|DOID:4846|NCIT:C5408 owl:Class MONDO:0003164 biolink:NamedThing cauda equina neoplasm A neoplasm involving a cauda equina. tmpte7i6ely_mondo_relaxed.owl Cauda equina neoplasms|neoplasm of the Cauda equina|tumor of the Cauda equina|tumor of cauda equina|tumor of Cauda equina|neoplasm of cauda equina|cauda equina neoplasm (disease)|cauda equina tumor DOID:4847|NCIT:C5479|UMLS:C1263892|SCTID:126963001 owl:Class MONDO:0008693 biolink:NamedThing ablepharon macrostomia syndrome Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. tmpte7i6ely_mondo_relaxed.owl ablepharon-macrostomia syndrome|AMS|congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies MESH:C535557|UMLS:C1860224|ICD10:Q87.0|DOID:0060550|GARD:0000003|SCTID:718575002|OMIM:200110|Orphanet:920 owl:Class MONDO:0000129 biolink:NamedThing glutaric aciduria tmpte7i6ely_mondo_relaxed.owl glutaric aciduria|glutaric acidemia|glutaric aciduria (disease) glutaric aciduria (disease) ICD9:270.8|HP:0003150|SCTID:28987007|HP:0003530|UMLS:C0268594 Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency owl:Class MONDO:0010358 biolink:NamedThing hypophosphatemic rickets, X-linked recessive Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. tmpte7i6ely_mondo_relaxed.owl X-linked hypophosphatemic rickets caused by mutation in CLCN5|hypophosphatemic rickets, X-linked recessive|CLCN5 X-linked hypophosphatemic rickets DOID:0080353|OMIM:300554 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations owl:Class MONDO:0014630 biolink:NamedThing NTHL1-related attenuated familial adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl familial adenomatous polyposis 3|familial adenomatous polyposis type 3|NTHL1-related AFAP|NTHL1-related attenuated familial adenomatous polyposis|NTHL1-related attenuated FAP|FAP3 Orphanet:454840|UMLS:C4225157|ICD10:D12.6|OMIM:616415 owl:Class MONDO:0020660 biolink:NamedThing osteoblastic osteosarcoma A conventional osteosarcoma characterized by the predominance of osteoid matrix. tmpte7i6ely_mondo_relaxed.owl osteoblastic osteosarcoma NCIT:C53953 owl:Class MONDO:0006646 biolink:NamedThing angioleiomyoma A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. tmpte7i6ely_mondo_relaxed.owl angioleiomyoma|vascular leiomyoma|angiomyoma (morphologic abnormality)|angiomyoma MESH:D018229|UMLS:C0206653|NCIT:C3747|DOID:4265|ICDO:8894/0|EFO:1000806|EFO:1000084 owl:Class HP:0002205 biolink:NamedThing Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. tmpte7i6ely_mondo_relaxed.owl Recurrent respiratory infections|Frequent respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Susceptibility to respiratory infections UMLS:C3806482 HP:0002782|HP:0002873 human_phenotype owl:Class HP:0011947 biolink:NamedThing Respiratory tract infection An infection of the upper or lower respiratory tract. tmpte7i6ely_mondo_relaxed.owl Respiratory infection|Respiratory tract infection|Respiratory infections MSH:D012141|UMLS:C0035243|SNOMEDCT_US:275498002 peter 2012-06-21T08:26:36Z human_phenotype owl:Class HGNC:29357 biolink:NamedThing ASXL3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20303 biolink:NamedThing SLC30A8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022404 biolink:NamedThing molting cycle process A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013175 biolink:NamedThing retinitis pigmentosa 50 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 50|retinitis pigmentosa type 50|retinitis pigmentosa, concentric|BEST1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in BEST1|RP50 ICD10:H35.5|DOID:0110396|OMIM:613194|MESH:C567712 owl:Class MONDO:0001726 biolink:NamedThing childhood disintegrative disease A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. tmpte7i6ely_mondo_relaxed.owl symbiotic psychosis|heller's syndrome|disintegrative psychosis NCIT:C97164|DOID:13487|ICD9:299.1|ICD10:F84.3|UMLS:C0236791|SCTID:61831009|SCTID:71961003 owl:Class MONDO:0010136 biolink:NamedThing thyroid dyshormonogenesis 4 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene. tmpte7i6ely_mondo_relaxed.owl familial thyroid dyshormonogenesis caused by mutation in IYD|TDH4|deiodinase deficiency|IYD familial thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 4|thyroid dyshormonogenesis 4|thyroid dyshormonogenesis type 4|thyroid hormonogenesis, genetic defect in, 4|iodotyrosine dehalogenase deficiency OMIM:274800|Orphanet:95716|SCTID:17885001|UMLS:C0342195|MESH:C562770 owl:Class MONDO:0013194 biolink:NamedThing Pseudopili annulati tmpte7i6ely_mondo_relaxed.owl Pseudopili annulati OMIM:613241 owl:Class MONDO:0005104 biolink:NamedThing aJCC grade 1 sarcoma Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma) tmpte7i6ely_mondo_relaxed.owl aJCC grade 1 sarcoma|aJCC grade I sarcoma|well differentiated sarcoma|aJCC G1 sarcoma NCIT:C9419|EFO:0000737|UMLS:C1332066 owl:Class MONDO:0012106 biolink:NamedThing microcephaly 5, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene. tmpte7i6ely_mondo_relaxed.owl MCPH5|microcephaly 5, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in ASPM|ASPM autosomal recessive primary microcephaly DOID:0070280|OMIM:608716|UMLS:C1837501|MESH:C563871 owl:Class MONDO:0008998 biolink:NamedThing Cockayne syndrome type 3 Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. tmpte7i6ely_mondo_relaxed.owl Cockayne syndrome type III|Cockayne syndrome type C|Cockayne syndrome, type III|Cockayne syndrome type 3 OMIM:216411|ICD10:Q87.8|Orphanet:90324|Orphanet:191|OMIM:133540|OMIM:216400|GARD:0001417 Editor note: consider obsoletion. obsolete in OMIM. No info in GHR https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii owl:Class UBERON:7500062 biolink:NamedThing tibial tuberosity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:4100000 biolink:NamedThing skeletal element projection tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012478 biolink:NamedThing cloacal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021496 biolink:NamedThing benign neoplasm of lip A benign neoplasm that involves the lip. tmpte7i6ely_mondo_relaxed.owl benign Lip neoplasm|benign tumor of Lip|benign tumor of the Lip|lip neoplasm, benign|benign Lip tumor|benign neoplasm of the Lip|lip benign neoplasm NCIT:C3591|SCTID:92185002|UMLS:C0153932|ICD9:210.0|ICD10:D10.0 owl:Class MONDO:0000652 biolink:NamedThing integumentary system benign neoplasm A benign neoplasm that involves the integumental system. tmpte7i6ely_mondo_relaxed.owl integumental system benign neoplasm DOID:0060121 owl:Class GO:0001649 biolink:NamedThing osteoblast differentiation The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. tmpte7i6ely_mondo_relaxed.owl osteoblast cell differentiation owl:Class FOODON:00001771 biolink:NamedThing cow milk based food product tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001118 biolink:NamedThing cattle dairy food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014784 biolink:NamedThing severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. tmpte7i6ely_mondo_relaxed.owl IHPMR|hypotonia, infantile, with psychomotor retardation UMLS:C4225196|Orphanet:467176|OMIM:616816 owl:Class UBERON:0010141 biolink:NamedThing primitive sex cord of indifferent gonad tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006109 biolink:NamedThing regulation of carbohydrate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. tmpte7i6ely_mondo_relaxed.owl regulation of carbohydrate metabolism owl:Class CHEBI:51039 biolink:NamedThing dopamine uptake inhibitor A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake. tmpte7i6ely_mondo_relaxed.owl dopamine reuptake inhibitors|DARI|dopamine reuptake inhibitor|dopamine uptake inhibitors|DRI owl:Class CHEBI:48560 biolink:NamedThing dopaminergic agent A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons. tmpte7i6ely_mondo_relaxed.owl dopaminergic agents|dopamine drugs|dopamine agent|dopamine drug|dopamine agents owl:Class MONDO:0003089 biolink:NamedThing extrahepatic bile duct mucoepidermoid carcinoma A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl mucoepidermoid carcinoma of the bile duct|bile duct mucoepidermoid carcinoma|extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of bile duct DOID:4681|UMLS:C1332552|NCIT:C5862 owl:Class MONDO:0003636 biolink:NamedThing vulvar sebaceous carcinoma A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. tmpte7i6ely_mondo_relaxed.owl mammalian vulva sebaceous adenocarcinoma|sebaceous adenocarcinoma of mammalian vulva DOID:5761|NCIT:C40309|UMLS:C1520094 owl:Class MONDO:0006962 biolink:NamedThing sebaceous adenocarcinoma An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. tmpte7i6ely_mondo_relaxed.owl sebaceous carcinoma|adenocarcinoma, sebaceous, malignant|sebaceous gland adenocarcinoma|sebaceous gland carcinoma|Seba|sebaceous cancer|adenocarcinoma of the sebaceous gland|carcinoma of the sebaceous gland|malignant sebaceous tumor|carcinoma of sebaceous gland ICD10:C44|DOID:4840|EFO:1001171|MESH:D018266|NCIT:C40310|NCIT:C8409|ICDO:8410/3|SCTID:307599002|DOID:4839|ONCOTREE:SEBA|UMLS:C1382026|UMLS:C0206684 owl:Class MONDO:0005406 biolink:NamedThing gestational diabetes Carbohydrate intolerance first diagnosed during pregnancy. tmpte7i6ely_mondo_relaxed.owl maternal gestational diabetes mellitus|diabetes in pregnancy|gestational diabetes mellitus|GDM DOID:11714|MESH:D016640|SCTID:11687002|ICD10:O24.4|EFO:0004593|NCIT:C34942|UMLS:C0085207 owl:Class SO:0000011 biolink:NamedThing non_protein_coding A gene which can be transcribed, but will not be translated into a protein. tmpte7i6ely_mondo_relaxed.owl non protein-coding owl:Class SO:0000401 biolink:NamedThing gene_attribute An attribute describing a gene. tmpte7i6ely_mondo_relaxed.owl gene attribute owl:Class ECTO:0000496 biolink:NamedThing exposure to alkylating agent An exposure to alkylating agent. tmpte7i6ely_mondo_relaxed.owl exposure to alkylating agent owl:Class ECTO:0000523 biolink:NamedThing exposure to mutagen An exposure to mutagen. tmpte7i6ely_mondo_relaxed.owl exposure to mutagen owl:Class MONDO:0013892 biolink:NamedThing C3 glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. tmpte7i6ely_mondo_relaxed.owl complement-mediated membranoproliferative glomerulonephritis|CFHR5 deficiency UMLS:C4055342|UMLS:C3553720|NCIT:C123043|OMIM:614809|Orphanet:329931|ICD10:N00.5|Orphanet:54370|Orphanet:329918|UMLS:CN187045 owl:Class MONDO:0011003 biolink:NamedThing dilated cardiomyopathy 1E Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. tmpte7i6ely_mondo_relaxed.owl CDCD2|cardiomyopathy, dilated, 1E|cardiomyopathy, dilated, with conduction defect 2|CMD1E|cardiomyopathy, dilated, with conduction disorder and arrhythmia|familial isolated dilated cardiomyopathy caused by mutation in SCN5A|dilated cardiomyopathy with conduction disorder and arrhythmia|dilated cardiomyopathy type 1E|cardiomyopathy, dilated, type 1E|dilated cardiomyopathy with conduction defect 2|cardiomyopathy dilated with conduction defect type 2|SCN5A familial isolated dilated cardiomyopathy Orphanet:154|UMLS:C1832680|ICD10:I42.0|DOID:0110433|OMIM:601154|GARD:0005644|MESH:C563384 https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2 owl:Class CL:1000444 biolink:NamedThing mesothelial cell of anterior chamber of eye A mesothelial cell that is part of the anterior chamber of eyeball. tmpte7i6ely_mondo_relaxed.owl FMA:70615 cell owl:Class CL:0000077 biolink:NamedThing mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. tmpte7i6ely_mondo_relaxed.owl mesotheliocyte FMA:66773 cell owl:Class GO:0031335 biolink:NamedThing regulation of sulfur amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpte7i6ely_mondo_relaxed.owl regulation of sulfur amino acid metabolism owl:Class MONDO:0003889 biolink:NamedThing infiltrating bladder urothelial carcinoma, clear cell variant An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells. tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, clear cell variant|clear cell variant infiltrating bladder urothelial carcinoma DOID:6476|UMLS:C1512737|NCIT:C39827 owl:Class MONDO:0016524 biolink:NamedThing congenital vascular bone syndrome An alteration in limb growth caused by congenital vascular malformations in childhood tmpte7i6ely_mondo_relaxed.owl Orphanet:235832 Editor note: see https://github.com/monarch-initiative/mondo/issues/114 owl:Class HGNC:7800 biolink:NamedThing NFKBIL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014468 biolink:NamedThing congenital myasthenic syndrome 7 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome type 7|myasthenic syndrome, congenital, 7, presynaptic|congenital myasthenic syndrome caused by mutation in SYT2|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy|CMS7|SYT2 congenital myasthenic syndrome|congenital myasthenic syndrome 7 presynaptic OMIM:616040|DOID:0110659|UMLS:C4015038 owl:Class MONDO:0003275 biolink:NamedThing middle ear cancer A malignant neoplasm involving the middle ear tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of middle ear|malignant neoplasm of the middle Ear|malignant middle ear neoplasm|tumor of the middle ear|malignant middle Ear tumor|malignant tumor of the middle Ear|malignant tumor of middle Ear|cancer of middle ear|middle ear cancer SCTID:127006003|DOID:5099|NCIT:C4765|NCIT:C4412|SCTID:363359008 owl:Class MONDO:0009052 biolink:NamedThing cutis laxa, autosomal recessive, type 1A An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. tmpte7i6ely_mondo_relaxed.owl cutis laxa, autosomal recessive, type IA|ARCL1A|cutis laxa, autosomal recessive|autosomal recessive cutis laxa type IA|ARCL1 ICD10:Q82.8|MESH:C562628|DOID:0070135|UMLS:CN033664|SCTID:59451000|OMIM:219100|Orphanet:90349 owl:Class MONDO:0019572 biolink:NamedThing autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). tmpte7i6ely_mondo_relaxed.owl autosomal recessive cutis laxa type 1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa, pulmonary emphysema type|cutis laxa, type 1|autosomal recessive cutis laxa type I|ARCL1 PMID:19401719|DOID:0070144|ICD10:Q82.8|GARD:0008480|MESH:C536225|OMIM:614437|OMIM:219100|Orphanet:90349|GARD:8480|SCTID:254222002|UMLS:CN206407 owl:Class UBERON:0002334 biolink:NamedThing submandibular duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001837 biolink:NamedThing duct of salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001835 biolink:NamedThing alpine biome A biome which is subject to alpine altitudinal conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000428 biolink:NamedThing biome A biome is an ecosystem to which resident ecological communities have evolved adaptations. tmpte7i6ely_mondo_relaxed.owl EcosytemType|major habitat type owl:Class MONDO:0018758 biolink:NamedThing familial patent arterial duct Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. tmpte7i6ely_mondo_relaxed.owl OMIM:607411|UMLS:CN242171|OMIM:617035|Orphanet:466729|OMIM:617039 owl:Class MONDO:0019822 biolink:NamedThing arterial duct anomaly tmpte7i6ely_mondo_relaxed.owl patent ductus arteriosus anomalies Orphanet:95485 owl:Class MONDO:0012695 biolink:NamedThing Meckel syndrome, type 5 Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. tmpte7i6ely_mondo_relaxed.owl MKS5|Meckel syndrome, type 5|Meckel syndrome caused by mutation in RPGRIP1L|RPGRIP1L Meckel syndrome|Meckel syndrome 5|Meckel-Gruber syndrome, type 5 ICD10:Q61.9|UMLS:C1969052|DOID:0070119|MESH:C566915|Orphanet:564|OMIM:611561 owl:Class MONDO:0045022 biolink:NamedThing disorder of organic acid metabolism A disease that has its basis in the disruption of organic acid metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of organic acid metabolism|organic acid metabolic process disease|disorder of organic acid metabolic process|organic acid metabolism disorder SCTID:116021002|ICD9:277.89 owl:Class UBERON:0001685 biolink:NamedThing hyoid bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000163 biolink:NamedThing embryonic cloaca tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000162 biolink:NamedThing cloaca tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019009 biolink:NamedThing isolated focal cortical dysplasia Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. tmpte7i6ely_mondo_relaxed.owl epilepsy due to FCD OMIM:607341|ICD10:Q04.8|Orphanet:65683|SCTID:766710005 owl:Class MONDO:0002865 biolink:NamedThing anus sarcoma A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma. tmpte7i6ely_mondo_relaxed.owl anal sarcoma|sarcoma of anus|sarcoma of the anus|anus sarcoma UMLS:C1332277|DOID:4067|NCIT:C5611 owl:Class MONDO:0001879 biolink:NamedThing anus cancer A malignant neoplasm involving the anus tmpte7i6ely_mondo_relaxed.owl malignant tumor of anus|cancer of anus|malignant neoplasm of anus|malignant anus neoplasm|malignant anal tumor|malignant anal neoplasm|malignant tumor of the anus|anus cancer|malignant neoplasm of the anus DOID:14110|ICD10:C21.1|ICD9:154.2|NCIT:C7379|GARD:0009300|ICD10:C21.0|ICD9:154.3 owl:Class MONDO:0010327 biolink:NamedThing HSD10 mitochondrial disease HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl 17-beta-hydroxysteroid dehydrogenase 10 deficiency|mental retardation, X-linked, syndromic 10|HSD10MD|2M3HBA|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|HSD10 deficiency, atypical type|3H2MBD deficiency|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|mental retardation, X-linked, syndromic type 10|mental retardation with chorioathetosis and abnormal behavior|MRXS10|2-methyl-3-hydroxybutyric aciduria|mental retardation, X-linked syndromic 10|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|MHBD deficiency|HSD10 deficiency|syndromic X-linked intellectual disability type 10|17-beta-hydroxysteroid dehydrogenase X deficiency|hydroxyacyl-CoA dehydrogenase II deficiency|chorioathetosis with mental retardation and abnormal behavior|HSD17B10 deficiency|17 beta-hydroxysteroid dehydrogenase type 10 deficiency|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|HSD10 mitochondrial disease UMLS:CN204973|DOID:0060810|GARD:0010716|MESH:C564560|OMIM:300438|UMLS:C1846168|MESH:C536080|OMIM:300220|SCTID:791000124107|ICD10:G25.5|Orphanet:391417|ICD10:E72.8 owl:Class UBERON:0000013 biolink:NamedThing sympathetic nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007610 biolink:NamedThing gingival fibromatosis-hypertrichosis syndrome Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. tmpte7i6ely_mondo_relaxed.owl hereditary gingival fibromatosis with hypertrichosis|HTC3|hypertrichosis terminalis, generalized, with gingival hyperplasia|gingival fibromatosis with hypertrichosis|microduplication 17Q24.2-q24.3 syndrome|hypertrichosis with or without gingival hyperplasia|CGHT|extreme hirsutism with gingival fibromatosis|hypertrichosis, congenital generalized, with or without gingival hyperplasia|hirsutism-congenital gingival hyperplasia syndrome|fibromatosis, gingival, with hypertrichosis|chromosome 17Q24.2-q24.3 deletion syndrome|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|congenital generalized hypertrichosis terminalis|chromosome 17Q24.2-q24.3 Duplication syndrome|microdeletion 17Q24.2-q24.3 syndrome SCTID:716008002|OMIM:135400|ICD10:L68.8|MESH:C565016|GARD:0002324|Orphanet:2026 https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis owl:Class MONDO:0004486 biolink:NamedThing endocervical type cervical adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present. tmpte7i6ely_mondo_relaxed.owl cervical adenomyoma, endocervical type DOID:8177|UMLS:C1516405|NCIT:C40232 owl:Class MONDO:0003238 biolink:NamedThing cervical adenomyoma A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma. tmpte7i6ely_mondo_relaxed.owl cervical adenomyoma NCIT:C40231|UMLS:C1516404|DOID:4995 owl:Class HGNC:3706 biolink:NamedThing ATP8B1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:10294 biolink:NamedThing Simplexvirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10293 biolink:NamedThing Alphaherpesvirinae tmpte7i6ely_mondo_relaxed.owl Alphaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021345 biolink:NamedThing carcinoma of pharynx A carcinoma that involves the pharynx. tmpte7i6ely_mondo_relaxed.owl carcinoma of the pharynx|pharyngeal throat cancer|carcinoma of pharynx|cancer of the pharynx|pharyngeal carcinoma|pharynx carcinoma SCTID:449254004|NCIT:C9466 owl:Class MONDO:0018439 biolink:NamedThing eosinophilic colitis Inflammation of the colon that is characterized by eosinic infiltration. tmpte7i6ely_mondo_relaxed.owl UMLS:C0267448|Orphanet:402035|ICD9:558.42|ICD10:K52.8|NCIT:C27053|ICD10:K52.82|SCTID:29120000 owl:Class MONDO:0016129 biolink:NamedThing eosinophilic gastroenteritis Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall. tmpte7i6ely_mondo_relaxed.owl eosinophilic gastroenteritis|eosinophilic gastroenterocolitis|EGE|eosinophilic enteritis Orphanet:2070|GARD:0009142|SCTID:359804008|ICD10:K52.8|MedDRA:10017902|ICD9:558.41|NCIT:C35330|UMLS:C1262481|DOID:4031 owl:Class MONDO:0010277 biolink:NamedThing syndromic X-linked intellectual disability Shashi type X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic 11, Shashi type|SMRXS|mental retardation, X-linked, syndromic 11|X-linked intellectual disability, Shashi type|mental retardation X-linked Shashi type|mental retardation, X-linked, syndromic 11, Shashi type|Shashi X-linked mental retardation syndrome|intellectual disability X-linked Shashi type|X-linked intellectual disability Shashi type|syndromic X-linked intellectual disability type 11|intellectual disability X-linked syndromic 11|MRXS11|Shashi X-linked intellectual disability syndrome|mental retardation, X-linked, Shashi type|X-linked mental retardation Shashi type|mental retardation X-linked syndromic 11|intellectual disability, X-linked, syndromic 11|intellectual disability, X-linked, Shashi type DOID:0060826|ICD10:Q87.8|UMLS:C1846145|UMLS:C4305085|MESH:C537135|GARD:0004119|OMIM:300238|Orphanet:85286|SCTID:718900002 owl:Class MONDO:0007955 biolink:NamedThing Meckel diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. tmpte7i6ely_mondo_relaxed.owl Meckel's diverticulum|persistent vitelline duct|Meckel diverticulum MESH:D008467|EFO:1001036|OMIM:155140|MedDRA:10027055|ICD9:751.0|ICD10:Q43.0|SCTID:37373007|DOID:9487|NCIT:C12264 owl:Class GO:0001887 biolink:NamedThing selenium compound metabolic process The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine. tmpte7i6ely_mondo_relaxed.owl selenium metabolic process|selenium metabolism|selenium compound metabolism owl:Class GO:0044237 biolink:NamedThing cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. tmpte7i6ely_mondo_relaxed.owl cellular metabolism|intermediary metabolism owl:Class MONDO:0016688 biolink:NamedThing fibrillary astrocytoma The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO) tmpte7i6ely_mondo_relaxed.owl fibrillary astrocytoma|fibrillary astrocytic tumors ICD10:C71.9|MESH:D001254|UMLS:C0334582|NCIT:C4322|MedDRA:10065889|Orphanet:251601|ICDO:9420/3|DOID:6726 owl:Class MONDO:0016686 biolink:NamedThing diffuse astrocytoma A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified. tmpte7i6ely_mondo_relaxed.owl astrocytoma, diffuse|low-grade diffuse astrocytoma|astrocytoma, diffuse, malignant|fibrillary astrocytoma (histologic variant)|gemistocytic astrocytoma (histologic variant)|diffuse astrocytoma|grade II astrocytic tumor|grade II astrocytic neoplasm|protoplasmic astrocytoma (histologic variant)|WHO grade II astrocytoma|grade II astrocytoma NCIT:C7173|Orphanet:251595|ONCOTREE:DASTR|UMLS:C0280785|GARD:0005907|ICD10:C71.9 owl:Class UBERON:0000916 biolink:NamedThing abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000222 biolink:NamedThing seminal vesicle acute gonorrhea Acute form of gonococcal seminal vesiculitis. tmpte7i6ely_mondo_relaxed.owl acute gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, acute UMLS:C0578661|SCTID:65049003|SCTID:301990003|UMLS:C0153194|DOID:0050004 owl:Class MONDO:0005807 biolink:NamedThing idiopathic CD4-positive T-lymphocytopenia A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections. tmpte7i6ely_mondo_relaxed.owl EFO:0007322|UMLS:C0206744|MESH:D018344|DOID:3109|NCIT:C84780 owl:Class MONDO:0005813 biolink:NamedThing interdigitating dendritic cell sarcoma A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) tmpte7i6ely_mondo_relaxed.owl interdigitating cell sarcoma/tumor|interdigitating Dendritic cell sarcoma/tumor|interdigitating Dendritic cell sarcoma|interdigitating cell sarcoma ICD10:C96.4|MESH:D054739|EFO:0007329|SCTID:715664005|NCIT:C9282|ICDO:9757/1|ONCOTREE:IDCS|DOID:7848|ICDO:9757/3 owl:Class HP:0004337 biolink:NamedThing Abnormality of amino acid metabolism Abnormality of an amino acid metabolic process. tmpte7i6ely_mondo_relaxed.owl Amino acid levels abnormal UMLS:C1328440 peter 2008-03-08T07:53:00Z human_phenotype owl:Class UBERON:0010893 biolink:NamedThing median external naris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005928 biolink:NamedThing external naris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003357 biolink:NamedThing lung leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl pulmonary leiomyosarcoma|leiomyosarcoma of the lung|leiomyosarcoma of lung|lung leiomyosarcoma NCIT:C5667|DOID:5265|UMLS:C1334448 owl:Class MONDO:0002426 biolink:NamedThing lung sarcoma A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of lung|sarcoma of the lung|lung sarcoma|pulmonary sarcoma UMLS:C0598790|NCIT:C4860|DOID:2784 owl:Class MONDO:0021291 biolink:NamedThing carcinoma in situ of fundus of stomach A in situ carcinoma that involves the fundus of stomach. tmpte7i6ely_mondo_relaxed.owl stage 0 fundus of stomach carcinoma|fundus of stomach carcinoma in situ|carcinoma in situ of gastric fundus|carcinoma in situ of the fundus of the stomach|carcinoma in situ of fundus of stomach|fundus of stomach in situ carcinoma|gastric fundus carcinoma in situ|gastric fundus carcinoma in situ aJCC v6 and v7|carcinoma in situ of the gastric fundus|stage 0 gastric fundus carcinoma SCTID:92598002|UMLS:C0345800|NCIT:C4429 owl:Class MONDO:0003970 biolink:NamedThing gastric fundus carcinoma A carcinoma that arises from epithelial cells of the fundus of stomach. tmpte7i6ely_mondo_relaxed.owl cancer of the fundus of the stomach|carcinoma of gastric fundus|carcinoma of the fundus of the stomach|fundus of stomach carcinoma|carcinoma of the gastric fundus|Gastric fundus cancer|cancer of the gastric fundus|gastric fundus (stomach) cancer|carcinoma of fundus of stomach|cancer of gastric fundus|cancer of fundus of stomach DOID:6700|SCTID:254555008|NCIT:C8398|UMLS:C0345799 Editor note: consider merge with gastric fundus cancer owl:Class GO:1903012 biolink:NamedThing positive regulation of bone development Any process that activates or increases the frequency, rate or extent of bone development. tmpte7i6ely_mondo_relaxed.owl up regulation of bone development|up-regulation of bone development|activation of bone development|upregulation of bone development owl:Class HGNC:7623 biolink:NamedThing MYT1L tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004319 biolink:NamedThing Decreased circulating aldosterone level Abnormally reduced levels of aldosterone. tmpte7i6ely_mondo_relaxed.owl Decreased aldosterone production|Decreased serum aldosterone|Low blood aldosterone level|Mineralocorticoid insufficiency|Hypoaldosteronism|Decreased aldosterone SNOMEDCT_US:60086000|UMLS:C0857899|MSH:D006994|UMLS:C0020595|UMLS:C1846226 Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. peter 2008-02-25T10:45:00Z HP:0000355|HP:0008184|HP:0008190|HP:0002924 human_phenotype owl:Class HP:0008207 biolink:NamedThing Primary adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. tmpte7i6ely_mondo_relaxed.owl Addison's disease|Adrenocortical insufficiency|Primary adrenocortical failure|Addison disease UMLS:C0001403|UMLS:C0405580|SNOMEDCT_US:363732003|SNOMEDCT_US:386584007|MSH:D000224|SNOMEDCT_US:373662000 Deficiency of both glucocorticoids and mineralocorticoids. HP:0000862|HP:0008252|HP:0008219 human_phenotype owl:Class GO:0006955 biolink:NamedThing immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001650 biolink:NamedThing acute cystitis An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. tmpte7i6ely_mondo_relaxed.owl cystitis, acute|acute cystitis|acute cystitis (disease) acute cystitis (disease) UMLS:C0149523|ICD9:595.0|NCIT:C26934|DOID:13148|ICD10:N30.0|SCTID:68226007 owl:Class NCBITaxon:29189 biolink:NamedThing Ammonia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002489 biolink:NamedThing malignant breast phyllodes tumor A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present. tmpte7i6ely_mondo_relaxed.owl malignant cystosarcoma phyllodes of breast|malignant phyllodes neoplasm of breast|phyllodes breast tumor|breast phyllodes tumor, malignant|malignant phyllodes tumor of the breast|breast malignant phyllodes tumor|malignant breast phyllodes tumor|malignant phyllodes breast neoplasm|malignant cystosarcoma phyllodes of the breast|malignant phyllodes neoplasm|malignant cystosarcoma phyllodes|phyllodes tumor, malignant (morphologic abnormality)|malignant phyllodes neoplasm of the breast|malignant phyllodes tumor of breast|malignant mammary phyllodes neoplasm|malignant phyllodes tumor (morphologic abnormality)|phyllodes breast neoplasm|malignant cystosarcoma phyllodes (morphologic abnormality)|malignant breast phyllodes neoplasm|malignant mammary phyllodes tumor EFO:0008545|MESH:D003557|SCTID:712989008|ONCOTREE:MPT|SCTID:254844000|DOID:3016|NCIT:C4504 owl:Class MONDO:0021047 biolink:NamedThing breast phyllodes tumor A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component. tmpte7i6ely_mondo_relaxed.owl phyllodes breast neoplasm|phyllodes tumor of breast|cystosarcoma phyllodes of the breast|phyllodes breast tumor|cystosarcoma phyllodes of breast|phyllodes neoplasm of the breast|cystosarcoma phylloides of the breast|breast phyllodes tumor|breast cystosarcoma phyllodes|phyllodes tumor of the breast|phyllodes neoplasm of breast|breast phyllodes neoplasm|cystosarcoma phylloides - breast SCTID:712989008|NCIT:C7575|ONCOTREE:PT|GARD:0009514 owl:Class GO:0004896 biolink:NamedThing cytokine receptor activity Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpte7i6ely_mondo_relaxed.owl IL receptor|hematopoietin/interferon-class (D200-domain) cytokine receptor activity|interleukin receptor activity owl:Class MONDO:0003627 biolink:NamedThing rheumatic pulmonary valve disease A rheumatologic disorder that involves the pulmonary valve. tmpte7i6ely_mondo_relaxed.owl pulmonary valve rheumatologic disorder|rheumatic disease of pulmonary valve|rheumatic pulmonary incompetence|rheumatologic disorder of pulmonary valve SCTID:18687009|UMLS:C0155579|ICD10:I09.89|ICD9:397.1|DOID:5748 owl:Class HP:0002034 biolink:NamedThing Abnormal rectum morphology An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. tmpte7i6ely_mondo_relaxed.owl Anomaly of the rectum|Abnormality of the rectum UMLS:C0266210|SNOMEDCT_US:86993003 human_phenotype owl:Class HP:0002250 biolink:NamedThing Abnormal large intestine morphology Any abnormality of the large intestine. tmpte7i6ely_mondo_relaxed.owl Abnormality of the large intestine UMLS:C4025715 The large intestine comprises the cecum and colon. human_phenotype owl:Class MONDO:0019613 biolink:NamedThing non-functioning pituitary adenoma A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl NFPA|functionless adenoma of the pituitary gland|non-functioning pituitary adenoma|non-functioning adenoma of pituitary gland|non-secretory adenoma of the pituitary gland|non-secretory pituitary adenoma|non-functioning adenoma of the pituitary|functionless adenoma of the pituitary|non-secretory adenoma of pituitary gland|non-secretory adenoma of the pituitary|silent pituitary gland adenoma|functionless pituitary adenoma|non-secretory pituitary gland adenoma|non-secretory adenoma of pituitary|non-functioning adenoma of the pituitary gland|non-functioning pituitary gland adenoma|non-functioning adenoma of pituitary|functionless adenoma of pituitary gland|functionless pituitary gland adenoma|nonfunctional pituitary gland adenoma|functionless adenoma of pituitary NCIT:C4348|SCTID:254962005|Orphanet:91349|ICD10:D35.2|EFO:0008516|DOID:5715 owl:Class MONDO:0002994 biolink:NamedThing pancreatic delta cell neuroendocrine tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). tmpte7i6ely_mondo_relaxed.owl pancreatic Delta cell neoplasm|pancreatic Delta cell neuroendocrine tumor|pancreatic delta cell neoplasm|pancreatic Delta cell NET|pancreatic Delta cell tumor UMLS:C1335301|DOID:4433|NCIT:C28396 owl:Class MONDO:0004772 biolink:NamedThing glaucomatocyclitic crisis tmpte7i6ely_mondo_relaxed.owl Terrien-Viel syndrome|Posner-Schlossman syndrome ICD9:364.22|SCTID:29538005|UMLS:C0152138|DOID:9378 owl:Class MONDO:0004773 biolink:NamedThing iridocyclitis An inflammation of the iris and the ciliary body tmpte7i6ely_mondo_relaxed.owl primary iridocyclitis|iridocyclitis (disease)|iridocyclitis iridocyclitis (disease) ICD9:364.2|ICD9:364.3|DOID:9383|NCIT:C34736|ICD10:H20.01|SCTID:77971008|ICD9:364.01|HP:0001094|UMLS:C0022073 owl:Class MONDO:0005762 biolink:NamedThing Filoviridae infectious disease Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown. tmpte7i6ely_mondo_relaxed.owl Filoviridae caused disease or disorder|Filoviridae disease or disorder EFO:0007273|UMLS:C0242917|MESH:D018702 owl:Class GO:0045095 biolink:NamedThing keratin filament A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins. tmpte7i6ely_mondo_relaxed.owl basic/neutral keratin|acidic keratin owl:Class GO:0005882 biolink:NamedThing intermediate filament A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. tmpte7i6ely_mondo_relaxed.owl type II intermediate filament associated protein|intermediate filament associated protein|type I intermediate filament associated protein owl:Class UBERON:0010081 biolink:NamedThing future common hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003703 biolink:NamedThing extrahepatic bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014545 biolink:NamedThing progressive myoclonic epilepsy type 8 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene. tmpte7i6ely_mondo_relaxed.owl progressive myoclonic epilepsy due to CERS1 deficiency|progressive myoclonus epilepsy type 8|PME type 8|epilepsy, progressive myoclonic, type 8|epilepsy, progressive myoclonic, 8|CERS1 progressive myoclonic epilepsy|EPM8|progressive myoclonic epilepsy caused by mutation in CERS1 OMIM:616230|Orphanet:424027|ICD10:G40.3|UMLS:C4015619|DOID:0111451 owl:Class MONDO:0008571 biolink:NamedThing Blount disease, infantile tmpte7i6ely_mondo_relaxed.owl Osteochondrosis deformans tibiae, infantile|Blount disease, infantile|tibia vara, infantile Orphanet:2768|UMLS:C3150037|OMIM:188700 owl:Class MONDO:0017194 biolink:NamedThing Blount disease Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. tmpte7i6ely_mondo_relaxed.owl Osteochondrosis deformans tibiae, familial infantile type|familial infantile type osteochondrosis deformans tibiae|infantile tibia vara|Blount's disease|Erlacher-Blount syndrome|tibia vara|Osteochondrosis deformans tibiae|Blount disease|Blount-Barber syndrome|tibia vara Blount DOID:14798|SCTID:79353000|NCIT:C118460|ICD10:M92.5|ICD9:736.89|Orphanet:2768|OMIM:259200|GARD:0000916|MESH:C536237|OMIM:188700|MedDRA:10072255 https://rarediseases.info.nih.gov/diseases/916/blount-disease owl:Class MONDO:0019462 biolink:NamedThing splenic marginal zone lymphoma Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated. tmpte7i6ely_mondo_relaxed.owl splenic marginal zone lymphoma with villous lymphocytes|marginal zone lymphoma of spleen|SMZL|splenic lymphoma with circulating villous lymphocytes|splenic marginal zone lymphoma|SLVL|splenic marginal zone B-cell lymphoma with villous lymphocytes|marginal zone lymphoma of the spleen|splenic marginal zone B-cell lymphoma ONCOTREE:SMZL|ICD10:C83.0|ICDO:9689/3|DOID:0050750|Orphanet:86854|MedDRA:10062113|NCIT:C4663|UMLS:C0349632|EFO:1000550|SCTID:763666008 owl:Class MONDO:0009533 biolink:NamedThing Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. tmpte7i6ely_mondo_relaxed.owl hypoparathyroidism-lymphedema syndrome|Dahlberg Borer Newcomer syndrome|hypoparathyroidism lymphedema syndrome|Dahlberg syndrome|lymphedema-hypoparathyroidism syndrome|lymphedema hypoparathyroidism syndrome GARD:0000237|ICD10:Q87.8|OMIM:247410|SCTID:721083007|UMLS:C1855477|MESH:C535769|Orphanet:1563 https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome owl:Class MONDO:0009360 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 1 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene. tmpte7i6ely_mondo_relaxed.owl hydrocephaly|CCDC88C congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive 1|hydrocephalus, nonsyndromic, autosomal recessive type 1|ventriculomegaly|HYC1|congenital hydrocephalus caused by mutation in CCDC88C UMLS:C3887608|GARD:0006682|OMIM:236600|Orphanet:2185 owl:Class MONDO:0014473 biolink:NamedThing microcephaly 13, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene. tmpte7i6ely_mondo_relaxed.owl microcephaly 13, primary, autosomal recessive|MCPH13|CENPE autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CENPE UMLS:C4015080|DOID:0070283|OMIM:616051|Orphanet:808 owl:Class ENVO:01001689 biolink:NamedThing mass of gas An object which is composed primarily of a gas. tmpte7i6ely_mondo_relaxed.owl gaseous mass owl:Class ENVO:01001688 biolink:NamedThing mass of fluid An object which is composed primarily of a fluid. tmpte7i6ely_mondo_relaxed.owl fluid mass owl:Class MONDO:0016841 biolink:NamedThing 20p12.3 microdeletion syndrome 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl monosomy 20p12.3|Del(20)(p12.3) ICD10:Q93.5|Orphanet:261295|SCTID:719650004|GARD:0012492|UMLS:C4304539|UMLS:CN202180 https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome owl:Class UBERON:0019206 biolink:NamedThing tongue papilla epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003357 biolink:NamedThing epithelium of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0025580 biolink:NamedThing Abnormal right atrium morphology Any structural abnormality of the right atrium. tmpte7i6ely_mondo_relaxed.owl 2017-12-15 23:56:01+00:00 Fyler:1770 HPO:probinson human_phenotype owl:Class HP:0005120 biolink:NamedThing Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. tmpte7i6ely_mondo_relaxed.owl Abnormality of heart atrium|Abnormality of cardiac atrium morphology UMLS:C4025246 peter 2008-03-26T04:12:00Z human_phenotype owl:Class MONDO:0021161 biolink:NamedThing gonococcal prostatitis An prostatitis (disease) caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl Neisseria gonorrhoeae prostatitis (disease)|Neisseria gonorrhoeae caused prostatitis (disease) SCTID:197967000|UMLS:C0341755 owl:Class MONDO:0004277 biolink:NamedThing gonorrhea A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. tmpte7i6ely_mondo_relaxed.owl chronic gonococcal infectious disease of lower genitourinary tract|Crosti-gianotti syndrome|GC|PAC|acrodermatitis, infantile lichenoid|papular acrodermatitis of childhood|acrodermatitis, papular infantile|chronic gonococcal infectious disease of upper genitourinary tract|Gianotti Crosti syndrome|PAS|infections, Neisseria gonorrhoeae|Neisseria gonorrhoeae infection MESH:D006069|ICD10:A54.9|Orphanet:100642|UMLS:C0018081|ICD10:A54|SCTID:15628003|ICD9:098|DOID:7551|ICD9:098.32|NCIT:C92950|ICD9:098.2|ICD9:098.89|GARD:0006499 owl:Class MONDO:0018768 biolink:NamedThing familial cold autoinflammatory syndrome Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. tmpte7i6ely_mondo_relaxed.owl familial cold urticaria|FCAS|FCU|familial cold autoinflammatory syndrome|familial polymorphous cold eruption OMIMPS:120100|Orphanet:47045|UMLS:C0343068|OMIM:120100|GARD:0009535|ICD10:L50.2|MedDRA:10064570|NCIT:C119053|DOID:0090061|UMLS:CN230757|OMIM:616115 owl:Class MONDO:0019563 biolink:NamedThing CREST syndrome CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. tmpte7i6ely_mondo_relaxed.owl calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|CRST syndromes|calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|syndrome, CREST|limited cutaneous Systemic Scleroderma|CRST syndrome|phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|limited cutaneous Systemic sclerosis|lcSSc|calcinosis Raynaud phenomenon sclerodactyly telangiectasia|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia NCIT:C70646|Orphanet:90290|ICD10:M34.1|MedDRA:10011380|GARD:0012430|OMIM:181750|MESH:D017675|DOID:0060218|SCTID:31848007|UMLS:C0206138 owl:Class MONDO:0016358 biolink:NamedThing limited cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. tmpte7i6ely_mondo_relaxed.owl limited cutaneous systemic scleroderma SCTID:298285004|Orphanet:220402|ICD10:M34.1|GARD:0001053 owl:Class MONDO:0016967 biolink:NamedThing partial duplication of the long arm of chromosome 17 tmpte7i6ely_mondo_relaxed.owl partial duplication of the long arm of chromosome type 17|trisomy 17q|17q trisomy|partial trisomy of chromosome 17q|Duplication 17q|chromosome 17q duplication|partial trisomy of the long arm of chromosome 17|partial duplication of chromosome 17q|17q duplication|partial trisomy 17q Orphanet:262968|GARD:0005320|UMLS:CN035860 owl:Class MONDO:0014016 biolink:NamedThing hereditary spastic paraplegia 49 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia 49|hereditary spastic paraplegia caused by mutation in TECPR2|TECPR2 hereditary spastic paraplegia|spastic paraplegia 49, autosomal recessive|SPG49|hereditary spastic paraplegia 49|hereditary spastic paraplegia type 49|autosomal recessive spastic paraplegia type 49 DOID:0110801|ICD10:G11.4|OMIM:615031|UMLS:C3542549|Orphanet:320385 owl:Class MONDO:0001316 biolink:NamedThing streptococcal meningitis An infectious meningitis caused by infection with Streptococcus. tmpte7i6ely_mondo_relaxed.owl Streptococcus infectious meningitis|Streptococcus caused infectious meningitis SCTID:4510004|UMLS:C0154639|DOID:11574|ICD9:320.2|ICD10:G00.2 owl:Class UBERON:0001647 biolink:NamedThing facial nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001785 biolink:NamedThing cranial nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014612 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene. tmpte7i6ely_mondo_relaxed.owl pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related|PFBMFT4|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN UMLS:C4225347|OMIM:616371|Orphanet:2032 owl:Class MONDO:0011492 biolink:NamedThing mandibulofacial dysostosis syndrome, Bauru type tmpte7i6ely_mondo_relaxed.owl mandibulofacial dysostosis syndrome, Bauru type UMLS:C1858101|MESH:C565744|OMIM:604830 owl:Class GO:1904058 biolink:NamedThing positive regulation of sensory perception of pain Any process that activates or increases the frequency, rate or extent of sensory perception of pain. tmpte7i6ely_mondo_relaxed.owl upregulation of sensory perception of pain|up-regulation of sensory perception of pain|upregulation of perception of physiological pain|activation of nociception|up-regulation of nociception|up-regulation of perception of physiological pain|positive regulation of nociception|activation of perception of physiological pain|upregulation of nociception|up regulation of sensory perception of pain|activation of sensory perception of pain|up regulation of nociception|up regulation of perception of physiological pain|positive regulation of perception of physiological pain owl:Class MONDO:0014091 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex deficiency caused by mutation in ATP5F1A|ATP5F1A mitochondrial complex deficiency|MC5DN4|mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 ICD10:E88.8|DOID:0060333|UMLS:C3808899|OMIM:615228|Orphanet:254913 owl:Class MONDO:0017106 biolink:NamedThing retrocerebellar cyst tmpte7i6ely_mondo_relaxed.owl retrocerebellar cyst (disease)|Retrocerebellar cyst|Retrocerebellar arachnoid cyst retrocerebellar cyst (disease) HP:0006951|Orphanet:269200 owl:Class MONDO:0006761 biolink:NamedThing fibromuscular dysplasia A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. tmpte7i6ely_mondo_relaxed.owl fibromuscular dysplasia of arteries|fibromuscular dysplasia|FMDA UMLS:C1851111|EFO:1000938|MESH:C537929|Orphanet:336|MedDRA:10054794|MESH:D005352|OMIM:135580|NCIT:C84714 owl:Class MONDO:0012863 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl attention deficit-hyperactivity disorder, susceptibility to, 6|Adhd6|digit span quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 6 OMIM:612312 owl:Class MONDO:0007266 biolink:NamedThing hypertrophic cardiomyopathy 2 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 2|cardiomyopathy familial hypertrophic 2|hypertrophic cardiomyopathy type 2|hypertrophic cardiomyopathy 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|familial hypertrophic cardiomyopathy type 2|TNNT2 hypertrophic cardiomyopathy|CMH2|cardiomyopathy, familial hypertrophic, 2 NCIT:C142892|MESH:C566171|DOID:0110308|OMIM:115195|UMLS:C1861864 owl:Class OBO:CHR_9606-chr9p13 biolink:NamedThing 9p13 (Human) tmpte7i6ely_mondo_relaxed.owl 39000000 33200000 hg38 owl:Class HGNC:14974 biolink:NamedThing SNX10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020768 biolink:NamedThing X-linked deafness tmpte7i6ely_mondo_relaxed.owl deafness, X-linked, DFN|deafness, X-linked|DFNX|X-linked deafness OMIMPS:304500|GARD:0001715 Note that this encompasses both syndromic and non-syndromic types. owl:Class MONDO:0019405 biolink:NamedThing facial onset sensory and motor neuronopathy Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. tmpte7i6ely_mondo_relaxed.owl facial onset sensory and motor neuronopathy syndrome|FOSMN syndrome|facial onset sensorimotor neuronopathy syndrome UMLS:CN206118|Orphanet:85162|GARD:0012036|SCTID:723306004|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy owl:Class MONDO:0014625 biolink:NamedThing developmental and epileptic encephalopathy, 33 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene. tmpte7i6ely_mondo_relaxed.owl EEF1A2 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in EEF1A2|epileptic encephalopathy, early infantile, 33|epileptic encephalopathy, early infantile, type 33|EIEE33|DEE33 UMLS:C4225337|OMIM:616409|DOID:0080463 owl:Class UBERON:0004814 biolink:NamedThing upper respiratory tract epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004802 biolink:NamedThing respiratory tract epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016272 biolink:NamedThing transitional cell carcinoma of the corpus uteri A transitional cell carcinoma that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl body of uterus transitional cell carcinoma|endometrial transitional cell carcinoma ICD10:C54.1|Orphanet:213746 owl:Class MONDO:0033630 biolink:NamedThing neurodevelopmental disorder with speech impairment and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl NEDSID OMIM:619056 owl:Class HGNC:16915 biolink:NamedThing HAX1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3964 biolink:NamedThing FSHB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001640 biolink:NamedThing gonococcal spondylitis An spondylitis caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl ICD9:098.53|SCTID:53664003|DOID:13127|UMLS:C0153219 owl:Class MONDO:0014915 biolink:NamedThing short-rib thoracic dysplasia 16 with or without polydactyly tmpte7i6ely_mondo_relaxed.owl short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16|SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly OMIM:617102|UMLS:C4310718 owl:Class GO:0032769 biolink:NamedThing negative regulation of monooxygenase activity Any process that stops or reduces the activity of a monooxygenase. tmpte7i6ely_mondo_relaxed.owl downregulation of monooxygenase activity|down-regulation of monooxygenase activity|inhibition of monooxygenase activity|down regulation of monooxygenase activity owl:Class NCBITaxon:1485 biolink:NamedThing Clostridium tmpte7i6ely_mondo_relaxed.owl Anaerobacter GC_ID:11|PMID:26643615|PMID:27488356 NCBITaxon:69207 ncbi_taxonomy owl:Class NCBITaxon:31979 biolink:NamedThing Clostridiaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0045821 biolink:NamedThing positive regulation of glycolytic process Any process that activates or increases the frequency, rate or extent of glycolysis. tmpte7i6ely_mondo_relaxed.owl stimulation of glycolysis|activation of glycolysis|up-regulation of glycolysis|upregulation of glycolysis|up regulation of glycolysis owl:Class HGNC:19141 biolink:NamedThing TTBK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015489 biolink:NamedThing predominantly medium-vessel vasculitis tmpte7i6ely_mondo_relaxed.owl Orphanet:156143 owl:Class UBERON:0006904 biolink:NamedThing head mesenchyme from mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0031481 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 1 tmpte7i6ely_mondo_relaxed.owl MEDS1|microcephaly, epilepsy, and diabetes syndrome|primary microcephaly-epilepsy-permanent neonatal diabetes syndrome UMLS:C3280240|Orphanet:306558|OMIM:614231 owl:Class MONDO:0100328 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:614231 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0018413 biolink:NamedThing facial nerve canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015872 biolink:NamedThing giant adenofibroma of the breast Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200476|ICD10:D24|Orphanet:180267 owl:Class MONDO:0005506 biolink:NamedThing eccrine sweat gland cancer An cancer with eccrine differentiation arising from the sweat glands.B tmpte7i6ely_mondo_relaxed.owl malignant eccrine neoplasm|malignant eccrine skin neoplasm|malignant eccrine tumor of skin|malignant neoplasm of eccrine sweat gland|eccrine sweat gland cancer|malignant eccrine tumor|malignant eccrine skin tumor|cancer of eccrine sweat gland|malignant eccrine sweat gland neoplasm|malignant eccrine tumor of the skin|malignant eccrine neoplasm of skin|malignant eccrine neoplasm of the skin NCIT:C27255|EFO:0005553|NCIT:C5559|UMLS:C1334577|DOID:4921 owl:Class CL:0000027 biolink:NamedThing smooth muscle cell neural crest derived A smooth muscle cell derived from the neural crest. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0016291 biolink:NamedThing craniosynostosis, Herrmann-Opitz type Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl Herrmann Opitz craniosynostosis UMLS:CN226893|ICD10:Q75.0|GARD:0002671|Orphanet:2145 owl:Class GO:0015986 biolink:NamedThing ATP synthesis coupled proton transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. tmpte7i6ely_mondo_relaxed.owl chemiosmosis owl:Class MONDO:0007467 biolink:NamedThing DNA, low-repetitive sequences of tmpte7i6ely_mondo_relaxed.owl DNA, low-repetitive sequences of|repetitive sequence DNA OMIM:126390 Editor note: TODO check owl:Class MONDO:0014856 biolink:NamedThing combined oxidative phosphorylation defect type 30 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 30|combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|combined oxidative phosphorylation deficiency type 30|TRMT10C combined oxidative phosphorylation deficiency|COXPD30 EFO:0009038|UMLS:C4310773|Orphanet:478042|DOID:0111471|OMIM:616974 owl:Class OBO:MFOMD_0000004 biolink:NamedThing mental disorder Clinically significant behavioural and/or cognitive pathology.|A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. tmpte7i6ely_mondo_relaxed.owl UMLS_CUI:C0004936|SNOMEDCT_2010_1_31:154843007|SNOMEDCT_2010_1_31:192637001|MSH:D001523|SNOMEDCT_2010_1_31:154971002|SNOMEDCT_2010_1_31:74732009|SNOMEDCT_2010_1_31:154972009|SNOMEDCT_2010_1_31:192639003|ICD9CM:290-319.99|NCI:C2893|SNOMEDCT_2010_1_31:154980002 While the ontology subscribes to the widely accepted theory that there is a biomedical basis for mental diseases, the standard descriptions of mental disorders focus solely on symptomatic descriptions. Therefore, we have classified the mental disorders beneath OGMS's 'disease course' via a parent class 'mental disease course' rather than classifying them as diseases. disease_ontology owl:Class OBO:MFOMD_0000025 biolink:NamedThing mental disease course A disease course of a mental disease. tmpte7i6ely_mondo_relaxed.owl mental disorder http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0002845 biolink:NamedThing necrotizing gastritis A variant of phlegmonous gastritis, typically progressing to gastric gangrene. tmpte7i6ely_mondo_relaxed.owl necrotizing gastritis UMLS:C0877152|NCIT:C27329|DOID:4037 owl:Class MONDO:0003755 biolink:NamedThing urinary tract non-invasive transitional cell neoplasm tmpte7i6ely_mondo_relaxed.owl non-invasive transitional cell neoplasm of the urinary tract|non-invasive urothelial neoplasm DOID:6065|UMLS:C1518361|NCIT:C39854 owl:Class UBERON:0018415 biolink:NamedThing ethmoid foramen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008353 biolink:NamedThing pruritic urticarial papules and plaques of pregnancy tmpte7i6ely_mondo_relaxed.owl PUPPP|pruritic urticarial papules and plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy, familial (subtype)|pruritic urticarial papules plaques of pregnancy|polymorphic eruption of pregnancy MedDRA:10066100|ICD9:692.9|GARD:0009635|OMIM:178995|Orphanet:64745|SCTID:88697005|ICD10:O26.8|ICD9:646.80|MESH:C535817 owl:Class MONDO:0012791 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome type 5|encephalomyopathy|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy aminoacidopathy|booth-Haworth-Dilling syndrome|mitochondrial encephalomyopathy-aminoacidopathy syndrome|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|MTDPS5|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive|mitochondrial DNA depletion syndrome 5 OMIM:612073|Orphanet:1933|MESH:C567624|ICD10:G71.3|Orphanet:254803|DOID:0080124|GARD:0003681 https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy owl:Class MONDO:0016796 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. tmpte7i6ely_mondo_relaxed.owl mtDNA depletion syndrome, encephalomyopathic form OMIM:612075|OMIM:612073|UMLS:CN230130|Orphanet:254803|UMLS:CN202052 owl:Class MONDO:0010507 biolink:NamedThing Xq25 microduplication syndrome tmpte7i6ely_mondo_relaxed.owl Xq25 triplication syndrome UMLS:C4311049|OMIM:300979|Orphanet:521258 owl:Class MONDO:0018724 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN242161|Orphanet:459070 owl:Class MONDO:0020492 biolink:NamedThing hemimegalencephaly Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy. tmpte7i6ely_mondo_relaxed.owl macrencephaly|unilateral megalencephaly Orphanet:99802|SCTID:253170008|ICD10:Q04.5|UMLS:C0431391|MESH:D065705|GARD:0002637|ICD9:742.4 https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly owl:Class MONDO:0100283 biolink:NamedThing overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism. tmpte7i6ely_mondo_relaxed.owl overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:37848 biolink:NamedThing plant hormone A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. tmpte7i6ely_mondo_relaxed.owl plant growth factor|phytohormone|plant growth hormone|plant growth factors|plant growth hormones|phytohormones|plant hormones owl:Class CHEBI:26155 biolink:NamedThing plant growth regulator A chemical, natural or artificial, that can affect the rate of growth of a plant. tmpte7i6ely_mondo_relaxed.owl plant growth regulators owl:Class MONDO:0043875 biolink:NamedThing tumor lysis syndrome A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. tmpte7i6ely_mondo_relaxed.owl tumour lysis syndromes|syndromes, tumour lysis|tumor lysis syndrome|syndrome, tumor lysis|tumour lysis syndrome|syndromes, tumor lysis|tumor lysis syndromes|syndrome, tumour lysis UMLS:C0041364|SCTID:277605001|MESH:D015275|NCIT:C3425|EFO:1001479 owl:Class CL:0002194 biolink:NamedThing monopoietic cell A cell involved in the formation of a monocyte (monopoiesis). tmpte7i6ely_mondo_relaxed.owl FMA:83552 tmeehan 2010-08-30T01:27:48Z cell owl:Class CL:0000839 biolink:NamedThing myeloid lineage restricted progenitor cell A progenitor cell restricted to the myeloid lineage. tmpte7i6ely_mondo_relaxed.owl myeloid progenitor cell BTO:0004730|CALOHA:TS-2099|FMA:70339 Note that this is a class of cell types, not an identified single cell type. cell owl:Class MONDO:0012800 biolink:NamedThing trichoepithelioma, multiple familial, 2 tmpte7i6ely_mondo_relaxed.owl trichoepithelioma, multiple familial, type 2|trichoepithelioma multiple familial 2|multiple familial trichoepithelioma 2|trichoepithelioma, multiple familial, 2|Mft2 GARD:0010373|UMLS:C2677505|Orphanet:867|MESH:C567418|OMIM:612099 https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2 owl:Class MONDO:0011114 biolink:NamedThing familial multiple trichoepithelioma tmpte7i6ely_mondo_relaxed.owl epithelioma, hereditary multiple benign cystic|hereditary multiple benign cystic epithelioma|multiple familial trichoepithelioma|trichoepithelioma multiple familial|epithelioma Adenoides Cysticum of Brooke|Brooke-Fordyce Trichoepitheliomas|epithelioma adenoides cysticum OMIM:612099|Orphanet:867|Orphanet:79493|OMIM:601606|ICD10:D23.3|GARD:0010867|SCTID:403825008|UMLS:C1275122 owl:Class GO:0042592 biolink:NamedThing homeostatic process Any biological process involved in the maintenance of an internal steady state. tmpte7i6ely_mondo_relaxed.owl positive regulation of homeostatic process|negative regulation of homeostatic process|inhibition of homeostatic process|regulation of homeostatic process|homeostasis|activation of homeostatic process owl:Class GO:0065008 biolink:NamedThing regulation of biological quality Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. tmpte7i6ely_mondo_relaxed.owl regulation of biological characteristic|regulation of biological attribute owl:Class MONDO:0006200 biolink:NamedThing epithelioid cell uveal melanoma A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. tmpte7i6ely_mondo_relaxed.owl uveal epithelioid cell melanoma|epithelioid cell melanoma of uvea|uvea epithelioid cell melanoma|epithelioid cell uveal melanoma NCIT:C35780|DOID:7040|EFO:1000244|UMLS:C1333422 owl:Class MONDO:0001939 biolink:NamedThing skin epithelioid hemangioma A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. tmpte7i6ely_mondo_relaxed.owl histiocytoid hemangioma of zone of skin|epithelioid hemangioma of skin|epithelioid hemangioma of the skin|histiocytoid hemangioma of the skin|histiocytoid hemangioma of skin|angiolymphoid hyperplasia of the skin|angiolymphoid hyperplasia of skin|skin epithelioid hemangioma|zone of skin histiocytoid hemangioma|angiolymphoid cutaneous hyperplasia SCTID:400131007|NCIT:C7393|DOID:14308|UMLS:C0002989|EFO:1001424 owl:Class MONDO:0021169 biolink:NamedThing epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells. tmpte7i6ely_mondo_relaxed.owl histiocytoid hemangioma|epithelioid haemangioma|epithelioid hemangioma DOID:474|NCIT:C4298|UMLS:C0205788|ICDO:9125/0|MESH:D006391 owl:Class MONDO:0008234 biolink:NamedThing multiple endocrine neoplasia type 2A Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. tmpte7i6ely_mondo_relaxed.owl multiple endocrine adenomatosis, type II|multiple endocrine adenomatosis type 2A|ptc syndrome|multiple endocrine neoplasia II|men type II|men 2A|Sipple syndrome|multiple endocrine neoplasia type II|pheochromocytoma and amyloid producing medullary thyroid carcinoma|multiple endocrine neoplasia, type II|thyroid carcinoma, familial medullary|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|multiple endocrine adenomatosis type II|men-2A syndrome|MEA type 2a|men type 2a|multiple endocrine neoplasia type 2A|MEN2A|multiple endocrine adenomatosis type 2a|multiple endocrine neoplasia, type IIA|multiple endocrine neoplasia, type 2A|MEA type II MESH:D018813|Orphanet:247698|ICD9:258.02|DOID:0050430|Orphanet:653|GARD:0004881|UMLS:C0025268|SCTID:721188000|OMIM:171400|ICD10:E31.22|UMLS:C1833921|NCIT:C3226|ICD10:D44.8|SCTID:61808009 https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a owl:Class MONDO:0019003 biolink:NamedThing multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). tmpte7i6ely_mondo_relaxed.owl MEN2|multiple endocrine neoplasia type 2 OMIM:155240|GARD:0003830|UMLS:C4048306|UMLS:CN073359|NCIT:C123329|ICD10:D44.8|SCTID:61808009|MedDRA:10028191|OMIM:162300|ICD9:258.02|Orphanet:653|ICD9:194.8|UMLS:C0025268|OMIM:171400 https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 owl:Class MONDO:0002601 biolink:NamedThing teratoma A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. tmpte7i6ely_mondo_relaxed.owl teratoma NCIT:C3403|MESH:D013724|ONCOTREE:TT|DOID:3307|SCTID:36591000119102|ICDO:9080/1 owl:Class MONDO:0044792 biolink:NamedThing large congenital melanocytic nevus A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. tmpte7i6ely_mondo_relaxed.owl LCMN|congenital pigmented nevus|Giant Congenital pigmented Nevus|congenital melanocytic Nevus of the skin|CMNS|congenital Nevus of the skin|congenital melanocytic nevi|congenital pigmented melanocytic Nevus|spitz Nevus|congenital melanocytic Nevus of skin|pigmented moles|Giant congenital melanocytic nevus|congenital pigmented Nevus of the skin|Giant pigmented hairy nevus|melanocytic NEVUS syndrome, CONGENITAL|congenital skin Nevus|congenital pigmented Nevus of skin|congenital melanocytic Nevus|congenital nevus|congenital Nevus of skin|congenital pigmented skin Nevus|Nevus spilus|GMN|Giant pigmented hairy Nevus MedDRA:10072036|DOID:0111359|UMLS:C1318558|Orphanet:626|UMLS:C1842036|ONCOTREE:SKCN|NCIT:C3944|OMIM:137550|ICD10:Q82.5|SCTID:398696001 Editor note: check if LCMN needs separated from CMN owl:Class GO:0003810 biolink:NamedThing protein-glutamine gamma-glutamyltransferase activity Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. tmpte7i6ely_mondo_relaxed.owl transglutaminase activity|polyamine transglutaminase activity|R-glutaminyl-peptide:amine gamma-glutamyl transferase activity|TGase activity|fibrin stabilizing factor|factor XIIIa|fibrinoligase activity|protein-glutamine:amine gamma-glutamyltransferase|tissue transglutaminase|glutaminylpeptide gamma-glutamyltransferase activity owl:Class UBERON:0003692 biolink:NamedThing acromioclavicular joint tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002277 biolink:NamedThing myeloid dendritic cell activation involved in immune response The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl myeloid dendritic cell activation during immune response owl:Class GO:0001773 biolink:NamedThing myeloid dendritic cell activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005593 biolink:NamedThing chronic periodontitis A chronic inflammatory process that affects the tissues that surround and support the teeth. tmpte7i6ely_mondo_relaxed.owl periodontitis, chronic EFO:0006343|ICD9:523.4|UMLS:C0266929|MESH:D055113|OMIM:260950|OMIM:170650|SCTID:5689008|NCIT:C35326|ICD9:523.40|ICD10:K05.3 owl:Class MONDO:0005076 biolink:NamedThing periodontitis An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. tmpte7i6ely_mondo_relaxed.owl chronic pericementitis|inflammation of periodontium|periodontosis|periodontium inflammation NCIT:C34918|EFO:0000649|ICD10:K05.4|UMLS:C0600298|OMIM:260950|SCTID:41565005|DOID:824|ICD9:523.5|OMIM:170650|MESH:D010518|DOID:9893|UMLS:C0031099|ICD10:K05.3 MONDO:0004915 owl:Class GO:0000271 biolink:NamedThing polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpte7i6ely_mondo_relaxed.owl polysaccharide biosynthesis|polysaccharide synthesis|glycan biosynthesis|glycan biosynthetic process|polysaccharide anabolism|polysaccharide formation owl:Class MONDO:0009830 biolink:NamedThing parkinsonian-pyramidal syndrome A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. tmpte7i6ely_mondo_relaxed.owl parkinsonian-pyramidal syndrome|Pallidopyramidal syndrome|autosomal recessive early-onset Parkinson's disease 15|Parkinson disease 15, autosomal recessive early-onset|pallido-pyramidal disease|pallido-pyramidal syndrome|autosomal recessive early-onset Parkinson disease type 15|pallidopyramidal syndrome|PARK15|autosomal recessive early-onset Parkinson disease 15 OMIM:260300|GARD:0009175|ICD10:G20|OMIM:168100|OMIM:168601|Orphanet:171695|DOID:0060372|UMLS:C1850100|MESH:C538104 owl:Class MONDO:0012666 biolink:NamedThing asthma-related traits, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl asthma-related traits, susceptibility to, type 6|asthma-related traits, susceptibility to, 6|ASRT6 OMIM:611403 owl:Class HGNC:3948 biolink:NamedThing FRAXD tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002210 biolink:NamedThing syndesmosis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002213 biolink:NamedThing cartilaginous joint tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009025 biolink:NamedThing mesothelial cell of colon A mesothelial cell that is part of the colon. tmpte7i6ely_mondo_relaxed.owl mesothelial cell of large intestine owl:Class UBERON:0015154 biolink:NamedThing lateral gland of orbital region tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9001712 biolink:NamedThing exposure to antiparasitic agent An exposure to antiparasitic agent. tmpte7i6ely_mondo_relaxed.owl exposure to antiparasitic agent owl:Class GO:0002344 biolink:NamedThing B cell affinity maturation The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen. tmpte7i6ely_mondo_relaxed.owl B lymphocyte affinity maturation|B-lymphocyte affinity maturation|B-cell affinity maturation owl:Class GO:0002343 biolink:NamedThing peripheral B cell selection Any B cell selection process that occurs in the periphery. tmpte7i6ely_mondo_relaxed.owl peripheral B lymphocyte selection|peripheral B-cell selection|peripheral B-lymphocyte selection owl:Class GO:2000860 biolink:NamedThing positive regulation of aldosterone secretion Any process that activates or increases the frequency, rate or extent of aldosterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009754 biolink:NamedThing neutropenia, lethal congenital, with eosinophilia tmpte7i6ely_mondo_relaxed.owl neutropenia lethal congenital with eosinophilia|lethal congenital neutropenia with eosinophilia|neutropenia, lethal congenital, with eosinophilia MESH:C564943|OMIM:257100|Orphanet:486|GARD:0006107|UMLS:C1850381 https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia owl:Class MONDO:0008742 biolink:NamedThing autosomal dominant severe congenital neutropenia Autosomal dominant form of severe congenital neutropenia. tmpte7i6ely_mondo_relaxed.owl severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant ICD10:D70|Orphanet:486|UMLS:C1859966|OMIM:202700|OMIM:613107|GARD:0009558|OMIM:257100 https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant owl:Class UBERON:0006715 biolink:NamedThing radio-ulna tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015002 biolink:NamedThing radius-ulna endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010149 biolink:NamedThing transcobalamin II deficiency Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. tmpte7i6ely_mondo_relaxed.owl Tcn2 deficiency|TCN2 deficiency|transcobalamin 2 deficiency|transcobalamin deficiency|transcobalamin II deficiency|inherited deficiency of transcobalamin|TC 2 deficiency OMIM:275350|UMLS:C0342701|NCIT:C142806|GARD:0012338|Orphanet:859|DOID:0050818|SCTID:237934001|ICD10:D51.2 owl:Class MONDO:0019220 biolink:NamedThing inborn disorder of cobalamin metabolism and transport tmpte7i6ely_mondo_relaxed.owl inborn disorder of cobalamin metabolism and transport|disorder of cobalamin metabolism and transport UMLS:CN227587|Orphanet:79171|UMLS:CN043592 owl:Class MONDO:0013970 biolink:NamedThing branched-chain keto acid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. tmpte7i6ely_mondo_relaxed.owl branched-chain KETO acid dehydrogenase KINASE deficiency|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|BCKDKD|Bckdk deficiency|BCKDK deficiency|branched-chain keto acid dehydrogenase kinase deficiency DOID:0090126|ICD10:E71.1|Orphanet:308410|UMLS:C3554078|OMIM:614923 owl:Class MONDO:0019242 biolink:NamedThing inborn disorder of branched-chain amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of branched chain amino acid metabolism|disorder of branched-chain amino acid metabolism|branched chain amino acid metabolism disorder|inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|rare inborn error of branched-chain amino acid metabolic process UMLS:C0342712|ICD10:E71.1|SCTID:116020001|ICD10:E71.2|ICD10:E71.0|Orphanet:79197 Editor note: consider parent for non-inborn form owl:Class MONDO:0021301 biolink:NamedThing adenoma of nipple A adenoma that involves the nipple. tmpte7i6ely_mondo_relaxed.owl adenoma of the nipple|nipple adenoma|papillomatosis, subareolar duct|subareolar duct papillomatosis SCTID:302829009|ICDO:8506/0|UMLS:C0334378|NCIT:C4192 owl:Class MONDO:0017805 biolink:NamedThing intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN203768|Orphanet:314575 owl:Class MONDO:0013733 biolink:NamedThing accelerated tumor formation, susceptibility to tmpte7i6ely_mondo_relaxed.owl ACTFS|accelerated tumor formation, susceptibility to 2022-05-01 OMIM:614401 Reason: out of scope. Term to consider: None owl:Class UBERON:0000947 biolink:NamedThing aorta tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006469 biolink:NamedThing negative regulation of protein kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. tmpte7i6ely_mondo_relaxed.owl down regulation of protein kinase activity|down-regulation of protein kinase activity|inhibition of protein kinase activity|downregulation of protein kinase activity owl:Class GO:0001933 biolink:NamedThing negative regulation of protein phosphorylation Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. tmpte7i6ely_mondo_relaxed.owl inhibition of protein amino acid phosphorylation|down regulation of protein amino acid phosphorylation|negative regulation of protein amino acid phosphorylation|downregulation of protein amino acid phosphorylation|down-regulation of protein amino acid phosphorylation owl:Class MONDO:0017606 biolink:NamedThing facial nerve palsy due to herpes zoster infection tmpte7i6ely_mondo_relaxed.owl Hunt's syndrome (formerly)|facial nerve palsy due to VZV|Ramsay Hunt syndrome type 2 (formerly)|facial nerve paralysis due to VZV|Hunt syndrome (formerly)|Ramsay Hunt syndrome Orphanet:3020|ICD10:G53.0*|GARD:0007525|ICD10:B02.2+ owl:Class MONDO:0003362 biolink:NamedThing cutaneous leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl skin leiomyosarcoma|leiomyosarcoma of the skin|cutaneous leiomyosarcoma|zone of skin leiomyosarcoma|cutaneous leiomyosarcoma (disease)|leiomyosarcoma of zone of skin|leiomyosarcoma of skin cutaneous leiomyosarcoma (disease) DOID:5273|UMLS:C0346067|HP:0006755|SCTID:254771006|NCIT:C4484 owl:Class GO:0009058 biolink:NamedThing biosynthetic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. tmpte7i6ely_mondo_relaxed.owl multicellular organismal biosynthetic process|single-organism biosynthetic process|biosynthesis|synthesis|anabolism|formation owl:Class GO:1905215 biolink:NamedThing negative regulation of RNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. tmpte7i6ely_mondo_relaxed.owl inhibition of RNA binding|down regulation of RNA binding|downregulation of RNA binding|down-regulation of RNA binding owl:Class GO:1905214 biolink:NamedThing regulation of RNA binding Any process that modulates the frequency, rate or extent of RNA binding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021509 biolink:NamedThing benign neoplasm of myocardium A benign neoplasm that involves the myocardium. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the myocardium|myocardium benign neoplasm|benign tumor of the myocardium|benign tumor of myocardium|benign myocardial tumor|benign myocardial neoplasm SCTID:92238001|NCIT:C4607|UMLS:C0347253 owl:Class MONDO:0019840 biolink:NamedThing acropectororenal dysplasia Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. tmpte7i6ely_mondo_relaxed.owl acro-pectoro-renal field defect|brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys Orphanet:956|GARD:0000511|SCTID:720413004|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect owl:Class HGNC:6840 biolink:NamedThing MAP2K1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002478 biolink:NamedThing orbitosphenoid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006173 biolink:NamedThing conjunctival squamous cell carcinoma A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain. tmpte7i6ely_mondo_relaxed.owl conjunctival epidermoid carcinoma|conjunctiva epidermoid carcinoma|epidermoid carcinoma of the conjunctiva|squamous cell carcinoma of the conjunctiva|conjunctival squamous cell carcinoma|conjunctival squamous cell cancer|epidermoid carcinoma of conjunctiva|conjunctiva squamous cell carcinoma|ocular surface squamous neoplasia|squamous cell carcinoma of conjunctiva|invasive squamous cell carcinoma of the conjunctiva EFO:1000206|SCTID:255003007|UMLS:C0346359|NCIT:C4549|DOID:1748 owl:Class MONDO:0002466 biolink:NamedThing eye carcinoma A carcinoma that arises from epithelial cells of the eye tmpte7i6ely_mondo_relaxed.owl carcinoma of the eye|ocular carcinoma|carcinoma of eyeball of camera-type eye|carcinoma of eye|eyeball of camera-type eye carcinoma|eye carcinoma DOID:295|UMLS:C0848866|NCIT:C6079 owl:Class MONDO:0006081 biolink:NamedThing anal melanoma A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl anal malignant melanoma|melanoma (disease) of anus|melanoma of anus|anus melanoma (disease)|anus melanoma|malignant melanoma of the anus|melanoma of the anus|malignant anus melanoma|malignant melanoma of anus|anal melanoma UMLS:C0349538|DOID:14145|EFO:1000080|NCIT:C4639|ONCOTREE:ARMM|SCTID:276821000 Editor note: TODO relationship to mucosa owl:Class MONDO:0002167 biolink:NamedThing rectum malignant melanoma An aggressive malignant melanocytic neoplasm that arises from the rectum. tmpte7i6ely_mondo_relaxed.owl melanoma (disease) of rectum|rectum melanoma (disease)|rectum melanoma|melanoma of the rectum|malignant melanoma of the rectum|rectal malignant melanoma|melanoma of rectum|rectal melanoma|malignant melanoma of rectum NCIT:C4640|SCTID:276822007|UMLS:C0349539|DOID:1992 owl:Class MONDO:0032862 biolink:NamedThing hydrocephalus, congenital communicating, 1 tmpte7i6ely_mondo_relaxed.owl HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1|HYDCC1 OMIM:618667 owl:Class MONDO:0006401 biolink:NamedThing salivary gland adenosquamous carcinoma A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component. tmpte7i6ely_mondo_relaxed.owl saliva-secreting gland adenosquamous carcinoma|salivary gland adenosquamous carcinoma EFO:1000514|UMLS:C1335894|NCIT:C35737 owl:Class MONDO:0018422 biolink:NamedThing autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. tmpte7i6ely_mondo_relaxed.owl SPG70 ICD10:G11.4|UMLS:CN226129|Orphanet:401835 owl:Class HGNC:1077 biolink:NamedThing BMPR1B tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50514 biolink:NamedThing vasoconstrictor agent Drug used to cause constriction of the blood vessels. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004951 biolink:NamedThing submucosa of segmental bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003259 biolink:NamedThing endoderm of midgut tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012721 biolink:NamedThing progressive myoclonic epilepsy type 3 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|progressive myoclonic epilepsy caused by mutation in KCTD7|ceroid lipofuscinosis, neuronal, 14|progressive myoclonus epilepsy type 3|EPM 3|epilepsy progressive myoclonic type 3|EPM3|progressive myoclonic epilepsy type 3|progressive myoclonic epilepsy 3|KCTD7 progressive myoclonic epilepsy|PME type 3|progressive myoclonic epilepsy due to KCTD7 deficiency UMLS:C2673257|OMIM:611726|ICD10:G40.3|GARD:0002167|MESH:C567095|DOID:0111446|Orphanet:263516 https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 owl:Class MONDO:0014461 biolink:NamedThing hypogonadotropic hypogonadism 22 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene. tmpte7i6ely_mondo_relaxed.owl HH22|hypogonadotropic hypogonadism caused by mutation in FEZF1|hypogonadotropic hypogonadism 22 with or without anosmia|FEZF1 hypogonadotropic hypogonadism OMIM:616030|Orphanet:478|DOID:0090081|UMLS:C4014988|ICD10:E23.0 owl:Class MONDO:0036484 biolink:NamedThing Charcot-Marie-Tooth disease, dominant intermediate G tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, dominant intermediate G|CMTDIG|Charcot-Marie-Tooth disease dominant intermediate G UMLS:CN847583|DOID:0080294|OMIM:617882 owl:Class MONDO:0018778 biolink:NamedThing intermediate Charcot-Marie-Tooth disease tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease intermediate type|Charcot-Marie-Tooth disease recessive intermediate|Charcot-Marie-Tooth disease dominant intermediate|Intermediate hereditary motor and sensory neuropathy UMLS:CN776860|DOID:0050543|Orphanet:476123 owl:Class MONDO:0012865 biolink:NamedThing Pseudofolliculitis barbae tmpte7i6ely_mondo_relaxed.owl PFB|pili Incarnati|Pseudofolliculitis barbae|ingrown hairs MESH:C563016|UMLS:C0549150|ICD10:L73.1|OMIM:612318 owl:Class UBERON:0000094 biolink:NamedThing membrane organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013946 biolink:NamedThing hypogonadotropic hypogonadism 15 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene. tmpte7i6ely_mondo_relaxed.owl HS6ST1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 15 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in HS6ST1|HH15 DOID:0090075|UMLS:C3553977|ICD10:23.0|OMIM:614880|Orphanet:478 owl:Class MONDO:0011389 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 16 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 16|autosomal dominant deafness 16|autosomal dominant nonsyndromic deafness 16|DFNA16|autosomal dominant nonsyndromic deafness type 16 MESH:C565832|OMIM:603964|DOID:0110547|UMLS:C1858916|ICD10:H90.3 owl:Class MONDO:0016266 biolink:NamedThing squamous cell carcinoma of the corpus uteri A squamous cell carcinoma that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl endometrial squamous cell carcinoma|body of uterus squamous cell carcinoma ICD10:C50|Orphanet:213716 owl:Class GO:0099699 biolink:NamedThing integral component of synaptic membrane The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005887 biolink:NamedThing integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl integral to plasma membrane owl:Class MONDO:0005534 biolink:NamedThing ileocolitis Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. tmpte7i6ely_mondo_relaxed.owl EFO:0005624|MedDRA:10062647|UMLS:C0949272|ICD10:K52.9|DOID:0060190 owl:Class MONDO:0005011 biolink:NamedThing Crohn disease A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. tmpte7i6ely_mondo_relaxed.owl Crohn's disease|granulomatous colitis|Crohn's disease of large bowel|regional enteritis|pediatric Crohn's disease|Crohn disease|Crohn's disease of colon ICD9:555.1|NCIT:C35211|NCIT:C2965|DOID:8778|SCTID:34000006|UMLS:CN043071|ICD10:K50.1|OMIM:266600|Orphanet:206|EFO:0000384|SCTID:7620006 owl:Class UBERON:0000466 biolink:NamedThing immaterial anatomical entity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011116 biolink:NamedThing lung agenesis-heart defect-thumb anomalies syndrome Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. tmpte7i6ely_mondo_relaxed.owl lung agenesis heart defect thumb anomalies|LACHT|lung agenesis, congenital heart defects, and thumb anomalies syndrome|Mardini-Nyhan association|Mardini-Nyhan syndrome|pulmonary aplasia and triphalangia of the thumb|Manouvrier syndrome UMLS:C0265780|GARD:0003378|OMIM:601612|ICD10:Q87.8|MESH:C535708|SCTID:721976003|Orphanet:1120 https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome owl:Class MONDO:0015222 biolink:NamedThing syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic respiratory or mediastinal malformation|syndrome associated with respiratory or mediastinal malformation Orphanet:108995|UMLS:CN226638 owl:Class GO:0009889 biolink:NamedThing regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpte7i6ely_mondo_relaxed.owl regulation of anabolism|regulation of synthesis|regulation of biosynthesis|regulation of formation owl:Class UBERON:8410050 biolink:NamedThing anorectum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901343 biolink:NamedThing negative regulation of vasculature development Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development. tmpte7i6ely_mondo_relaxed.owl inhibition of vascular system development|negative regulation of vascular system development|down-regulation of vascular system development|down regulation of vasculature development|down-regulation of vasculature development|down regulation of vascular system development|downregulation of vascular system development|downregulation of vasculature development|inhibition of vasculature development owl:Class MONDO:0017775 biolink:NamedThing melioidosis An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. tmpte7i6ely_mondo_relaxed.owl Burkholderia pseudomallei infection|Burkholderia pseudomallei caused disease or disorder|B pseudomallei infection|subacute and chronic melioidosis|acute and fulminating melioidosis|pseudoglanders|Burkholderia pseudomallei disease or disorder|Burkholderia pseudomallei infectious disease|Whitmore's disease|Nightcliff gardener's disease|Whitmore disease OMIM:615557|GARD:0009546|UMLS:C0348970|Orphanet:31202|SCTID:186312003|ICD10:A24.2|UMLS:C0025229|ICD10:A24.4|ICD9:025|NCIT:C128336|DOID:5052|ICD10:A24.9|MedDRA:10069748|UMLS:C0348971|ICD10:A24.1|MESH:D008554|ICD10:A24.3 https://rarediseases.info.nih.gov/diseases/9546/melioidosis owl:Class MONDO:0010589 biolink:NamedThing Aarskog-Scott syndrome, X-linked Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. tmpte7i6ely_mondo_relaxed.owl faciodigitogenital syndrome|facio-digito-genital dysplasia|Aarskog disease|Aarskog-Scott syndrome, X-linked|AAS|mental retardation, X-linked, syndromic 16, included|FGDY|mental retardation, X-linked, syndromic 16|Aarskog-Scott syndrome|Aarskog Scott syndrome|Scott Aarskog syndrome|faciodigitogenital syndrome, recessive|faciogenital dysplasia with attention Deficit-hyperactivity disorder|FGD|Aarskog syndrome|faciogenital dysplasia|MRXS16, included|Aarskog syndrome, X-linked|Aarskog-like syndrome ICD10:Q87.1|OMIM:100050|SCTID:14921002|MESH:C535331|ICD9:759.89|NCIT:C129720|GARD:0004775|Orphanet:915|MedDRA:10067148|OMIM:305400 owl:Class HP:0025634 biolink:NamedThing Abnormal ureter physiology A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpte7i6ely_mondo_relaxed.owl 2019-04-26 17:43:08+00:00 HPO:probinson human_phenotype owl:Class HP:0000069 biolink:NamedThing Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpte7i6ely_mondo_relaxed.owl Ureteral anomalies|Abnormality of the ureters|Ureter issue UMLS:C1840382 HP:0006001 human_phenotype owl:Class MONDO:0043541 biolink:NamedThing viral conjunctivitis Conjunctivitis resulting from viral infection. tmpte7i6ely_mondo_relaxed.owl Viruses conjunctivitis (disease)|Conjunctivitides, viral|viral conjunctivitis|Viruses caused conjunctivitis (disease)|viral Conjunctivitides MESH:D003236|NCIT:C34509|UMLS:C0009774|SCTID:45261009 owl:Class MONDO:0000292 biolink:NamedThing philophthalmiasis A disease caused by infection with Philophthalmus. tmpte7i6ely_mondo_relaxed.owl Philophthalmus disease or disorder|Philophthalmus infectious disease|Philophthalmus caused disease or disorder DOID:0050250 owl:Class MONDO:0018695 biolink:NamedThing avian influenza Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. tmpte7i6ely_mondo_relaxed.owl avian flu|bird flu MESH:D005585|UMLS:C0016627|ICD10:J09.X|EFO:0005222|UMLS:CN237762|SCTID:55604004|DOID:4492|Orphanet:454836|ICD10:J09 owl:Class MONDO:0005812 biolink:NamedThing influenza An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. tmpte7i6ely_mondo_relaxed.owl influenza infection|orthomyxoviridae caused disease or disorder|orthomyxoviridae infectious disease|Influenza with other manifestations|influenza with non-respiratory manifestation|orthomyxoviridae disease or disorder|flu ICD9:487|ICD10:J11.1|NCIT:C53482|DOID:8469|ICD9:487.8|MESH:D009976|SCTID:61700007|EFO:0007328|EFO:0007411|MESH:D007251 owl:Class MONDO:0020051 biolink:NamedThing total autosomal trisomy tmpte7i6ely_mondo_relaxed.owl Orphanet:98131 owl:Class MONDO:0020050 biolink:NamedThing autosomal trisomy tmpte7i6ely_mondo_relaxed.owl chromosomal triplication|autosomal duplication|trisomy 2022-04-01 GARD:0006065|SCTID:429442006|UMLS:C1996945|NCIT:C3421|Orphanet:98130|ICD9:758.5 Reason: grouping class. Term to consider: MONDO:0700065 MONDO:0700065 owl:Class MONDO:0004210 biolink:NamedThing colonic L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpte7i6ely_mondo_relaxed.owl colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing NET|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of colon UMLS:C3274139|DOID:7401|NCIT:C27447 owl:Class MONDO:0004211 biolink:NamedThing L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpte7i6ely_mondo_relaxed.owl L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide producing tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor ICDO:8152/1|NCIT:C27448|DOID:7402|UMLS:C3274140 owl:Class MONDO:0008592 biolink:NamedThing tricho-dento-osseous syndrome Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. tmpte7i6ely_mondo_relaxed.owl TRICHODENTOOSSEOUS syndrome|Tricho-dento-osseous syndrome 1|TDO|enamel hypoplasia and hypocalcification with associated strikingly curly hair|TDO syndrome|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|TDO syndrome 1 GARD:0007799|ICD10:Q82.4|OMIM:190320|DOID:0111565|ICD9:759.89|Orphanet:3352|SCTID:38993008|MESH:C536549|GARD:0005252 https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome owl:Class MONDO:0019282 biolink:NamedThing syndromic hair shaft abnormality tmpte7i6ely_mondo_relaxed.owl UMLS:CN227611|Orphanet:79367 owl:Class MONDO:0022655 biolink:NamedThing cardiomyopathy hypogonadism metabolic anomalies tmpte7i6ely_mondo_relaxed.owl GARD:0001109|UMLS:C2931289 https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies owl:Class MONDO:0010958 biolink:NamedThing cardiac arrhythmia, ankyrin-B-related tmpte7i6ely_mondo_relaxed.owl ankyrin-B syndrome|LQT4|cardiac arrhythmia, ankyrin-b-related|long QT syndrome 4 OMIM:600919|Orphanet:768|DOID:0111701|DOID:0111700|UMLS:C1970119|Orphanet:101016|SCTID:764457005|GARD:0010432 Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent owl:Class MONDO:0014535 biolink:NamedThing hyperproinsulinemia tmpte7i6ely_mondo_relaxed.owl hyperproinsulinemia SCTID:237613005|UMLS:C0342283|OMIM:616214|MESH:C562776|ICD9:250.80 owl:Class MONDO:0009982 biolink:NamedThing retinitis pigmentosa inversa with deafness tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa inversa with deafness OMIM:268010|UMLS:C1849405|MESH:C564842 owl:Class MONDO:0015391 biolink:NamedThing nasopharyngeal teratoma A teratoma that involves the nasopharynx. tmpte7i6ely_mondo_relaxed.owl nasopharynx teratoma|teratoma of the nasopharynx ICD10:D10.6|UMLS:C4531264|Orphanet:141107 owl:Class MONDO:0019500 biolink:NamedThing extragonadal teratoma Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. tmpte7i6ely_mondo_relaxed.owl Orphanet:883|MedDRA:10043276|SCTID:768937006 owl:Class MONDO:0014866 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2T A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2t|Charcot-Marie-Tooth disease, axonal, type 2T|AR-CMT2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|DNAJB2-related Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2T|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|Charcot-Marie-Tooth neuropathy, type 2T|DNAJB2-related CMT2|CMT2T OMIM:617017|UMLS:C4015635|Orphanet:443950|ICD10:G60.0|DOID:0110160 owl:Class MONDO:0016374 biolink:NamedThing cranial neuralgia A neuralgia that involves the cranial neuron projection bundle. tmpte7i6ely_mondo_relaxed.owl facial neuralgia|cranial neuron projection bundle neuralgia|neuralgia of cranial neuron projection bundle UMLS:C0010269|Orphanet:221109|SCTID:23096007 owl:Class HGNC:5970 biolink:NamedThing IL12B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021945 biolink:NamedThing hearing disorder A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. tmpte7i6ely_mondo_relaxed.owl disorder of hearing|auditory alteration|hearing disorder UMLS:C0260662|SCTID:128540005|NCIT:C3078|MESH:D006311 owl:Class MONDO:0023054 biolink:NamedThing klumpke's paralysis Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months. tmpte7i6ely_mondo_relaxed.owl Klumpke Palsy|Palsy, Klumpke's|Lower Brachial Plexus Palsy|klumpke paralysis|Klumpke's palsy|Klumpkes Palsy|Klumpke's Palsy|Klumpke paralysis|Klumpke-DC)jerine paralysis|Klumpke-Dejerine paralysis|Klumpke's paralysis|Klumpke Paralysis|klumpke-dejerine paralysis|Dejerine-Klumpke Palsy|klumpke's palsy|klumpke-dC)jerine paralysis|Paralysis of the Lower Brachial Plexus|klumpke's paralysis|klumpke-dC)jerine brachial plexus injury|Palsy, Dejerine-Klumpke|Klumpke-DC)jerine brachial plexus injury|Lower brachial plexus palsy|Dejerine-Klumpke palsy|Paralysis, Klumpke|Dejerine Klumpke Palsy SCTID:83886009|NCIT:C116724|GARD:0003123|UMLS:C0270898 owl:Class GO:0071383 biolink:NamedThing cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032870 biolink:NamedThing cellular response to hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023204 biolink:NamedThing Fukuda-Miyanomae-Nakata syndrome tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital progressive, with mental retardation|muscular dystrophy, congenital, Fukuyama type|FCMD|Fukuyama type muscular dystrophy|muscular dystrophy, congenital, with central nervous system involvement|muscular dystrophy, congenital progressive, with intellectual disability|Cerebromuscular dystrophy, Fukuyama type OMIM:253800|Orphanet:2060|Orphanet:272|GARD:0002411|GARD:0006475|UMLS:CN776933 https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy|https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome owl:Class MONDO:0018807 biolink:NamedThing idiopathic ductopenia tmpte7i6ely_mondo_relaxed.owl idiopathic adult ductopenia|IAD UMLS:CN244899|Orphanet:480512 owl:Class HGNC:236 biolink:NamedThing ADCY5 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001682 biolink:NamedThing air mass An object which is composed of a continuous mass of air. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26190 biolink:NamedThing MTMR14 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019229 biolink:NamedThing regulation of vasoconstriction Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045682 biolink:NamedThing regulation of epidermis development Any process that modulates the frequency, rate or extent of epidermis development. tmpte7i6ely_mondo_relaxed.owl regulation of hypodermis development|regulation of epidermal development owl:Class CL:0002275 biolink:NamedThing pancreatic PP cell A PP cell located in the islets of the pancreas. tmpte7i6ely_mondo_relaxed.owl PP-cell of pancreatic islet|PP cell of pancreatic islet|pancreatic polypeptide-secreting cell FMA:70588|BTO:0000805 The term PP cell of pancreatic acinus was obsoleted due to a lack of evidence, making PP cell of pancreatic islets synonymous with pancreatic PP cell. tmeehan 2010-09-10T03:30:31Z cell owl:Class CL:0000696 biolink:NamedThing PP cell A cell that stores and secretes pancreatic polypeptide hormone. tmpte7i6ely_mondo_relaxed.owl type F enteroendocrine cell FMA:83409|FMA:62938 cell owl:Class GO:1901318 biolink:NamedThing negative regulation of flagellated sperm motility Any process that stops, prevents or reduces the frequency, rate or extent of flagellated sperm motility. tmpte7i6ely_mondo_relaxed.owl inhibition of sperm motility|down-regulation of sperm movement|inhibition of sperm movement|down regulation of sperm motility|down regulation of sperm movement|downregulation of sperm movement|down-regulation of sperm motility|downregulation of sperm motility|negative regulation of sperm motility|negative regulation of sperm movement owl:Class MONDO:0007585 biolink:NamedThing exostoses, multiple, type 1 Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene. tmpte7i6ely_mondo_relaxed.owl EXT|multiple osteochondromas|exostoses, multiple, type 1|EXT1 exostoses, multiple|diaphyseal Aclasis|exostoses, multiple caused by mutation in EXT1|multiple cartilaginous exostoses|exostoses, multiple, type I|osteochondromatosis Orphanet:321|OMIM:133700|GARD:0002204 https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1 owl:Class MONDO:0008322 biolink:NamedThing pseudoachondroplasia Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. tmpte7i6ely_mondo_relaxed.owl Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|PSACH|Pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC|Pseudoachondroplastic spondyloepiphyseal dysplasia|pseudoachondroplasia|pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic GARD:0004540|Orphanet:750|DOID:0080047|MESH:C535819|OMIM:177170|SCTID:22567005|NCIT:C118635|ICD9:756.9|ICD10:Q77.8|UMLS:C0410538 https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia owl:Class UBERON:0004035 biolink:NamedThing cortical subplate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014950 biolink:NamedThing layer of developing cerebral cortex tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010912 biolink:NamedThing positive regulation of isomerase activity Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043085 biolink:NamedThing positive regulation of catalytic activity Any process that activates or increases the activity of an enzyme. tmpte7i6ely_mondo_relaxed.owl stimulation of enzyme activity|up-regulation of metalloenzyme activity|upregulation of metalloenzyme activity|activation of metalloenzyme activity|up regulation of enzyme activity|up-regulation of enzyme activity|stimulation of metalloenzyme activity|positive regulation of metalloenzyme activity|up regulation of metalloenzyme activity|positive regulation of enzyme activity|activation of enzyme activity|upregulation of enzyme activity owl:Class MONDO:0012212 biolink:NamedThing Loeys-Dietz syndrome 1 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. tmpte7i6ely_mondo_relaxed.owl Loeys-Dietz syndrome 1|Loeys-Dietz syndrome caused by mutation in TGFBR1|Loeys-Dietz aortic aneurysm syndrome|aortic aneurysm, familial thoracic 5|Furlong syndrome|TGFBR1 Loeys-Dietz syndrome|Loeys-Dietz syndrome type 1|LDS1 Orphanet:60030|DOID:0070235|Orphanet:91387|NCIT:C75119|GARD:0009458|Orphanet:97295|UMLS:C2697933|OMIM:609192 owl:Class MONDO:0011674 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, dominant Intermediate type B|DI-CMTB|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease dominant intermediate type B|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|Charcot-Marie-Tooth disease caused by mutation in DNM2|Di-CMTB|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|CMTDIB|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease, axonal, type 2M|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|CMTDI1|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|Cmtdi1|Charcot-Marie-Tooth neuropathy, axonal, type 2M|Charcot-Marie-Tooth neuropathy dominant intermediate B|Charcot-Marie-Tooth disease, dominant intermediate B Orphanet:100044|UMLS:CN197338|Orphanet:228179|GARD:0012438|SCTID:765745007|ICD10:G60.0|OMIM:606482|DOID:0110197 owl:Class MONDO:0003584 biolink:NamedThing visual cortex disorder A disease involving the visual cortex. tmpte7i6ely_mondo_relaxed.owl visual cortex disease|disorder of visual cortex|visual cortex dysfunction|disease of visual cortex|visual cortex disease or disorder|disease or disorder of visual cortex|visual cortex disorder ICD10:H47.6|ICD9:377.7|DOID:5691|UMLS:C0234398|NCIT:C35275|SCTID:128329001 owl:Class MONDO:0017720 biolink:NamedThing GM2 gangliosidosis A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. tmpte7i6ely_mondo_relaxed.owl gangliosidosis GM2|GM>2< gangliosidosis|GM2-gangliosidosis, B, B1, AB variant SCTID:33316007|GARD:0002522|ICD10:E75.0|Orphanet:309152|MESH:D020143|ICD10:E75.00|DOID:3321|UMLS:C0039373|UMLS:C0268274 owl:Class MONDO:0003762 biolink:NamedThing malignant leptomeningeal tumor A primary or metastatic malignant tumor involving the leptomeninges. tmpte7i6ely_mondo_relaxed.owl malignant tumor of leptomeninges|malignant leptomeningeal neoplasm|leptomeninx cancer|malignant leptomeningeal tumor|malignant neoplasm of leptomeninx|leptomeningeal cancer|malignant tumor of the leptomeninges|cancer of leptomeninx|malignant neoplasm of the leptomeninges|malignant neoplasm of leptomeninges|malignant leptomeninx neoplasm DOID:6086|NCIT:C8506|UMLS:C1334596 owl:Class HGNC:21652 biolink:NamedThing OSTM1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060377 biolink:NamedThing negative regulation of mast cell differentiation Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060375 biolink:NamedThing regulation of mast cell differentiation Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7372 biolink:NamedThing MSMB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010695 biolink:NamedThing mesenchyme of tarsal region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25221 biolink:NamedThing MMADHC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003374 biolink:NamedThing laryngeal leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of larynx|larynx leiomyosarcoma|leiomyosarcoma of the larynx|laryngeal leiomyosarcoma UMLS:C1334371|NCIT:C6022|DOID:5288 owl:Class MONDO:0012651 biolink:NamedThing spastic ataxia 2 Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. tmpte7i6ely_mondo_relaxed.owl KIF1C spastic ataxia|spastic ataxia caused by mutation in KIF1C|spastic ataxia 2|SPG58|SPAX2|autosomal recessive spastic ataxia type 2|spastic ataxia type 2|autosomal recessive spastic paraplegia type 58|spastic ataxia 2, autosomal recessive UMLS:C1969796|ICD10:G11.4|Orphanet:397946|OMIM:611302|MESH:C566969|DOID:0050941 owl:Class HGNC:7602 biolink:NamedThing MYO5A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015829 biolink:NamedThing non-syndromic uterovaginal malformation A uterovaginal malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic uterovaginal malformation|isolated uterovaginal malformation Orphanet:180065 owl:Class MONDO:0032915 biolink:NamedThing long QT syndrome 16 tmpte7i6ely_mondo_relaxed.owl Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LONG QT SYNDROME 16|long QT syndrome 16|LQT16 OMIM:618782 owl:Class MONDO:0006041 biolink:NamedThing lung carcinoid tumor A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. tmpte7i6ely_mondo_relaxed.owl lung carcinoid tumor|lung carcinoid|pulmonary carcinoid tumor|carcinoid tumor (disease) of lung|lung carcinoid tumor (disease)|carcinoid tumor of lung|carcinoid tumor of the lung UMLS:C0280089|ONCOTREE:LUCA|SCTID:254627002|NCIT:C4038|EFO:1000037 owl:Class MONDO:0013766 biolink:NamedThing familial cold autoinflammatory syndrome 3 PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. tmpte7i6ely_mondo_relaxed.owl PLCG2 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 3|familial cold urticaria with common variable immunodeficiency|FCAS3|familial cold autoinflammatory syndrome type 3|FACU|plaid|antibody deficiency and immune dysregulation, PLCG2-associated|familial cold autoinflammatory syndrome caused by mutation in PLCG2|familial atypical cold urticaria|PLCG2-associated antibody deficiency and immune dysregulation OMIM:614468|DOID:0090064|ICD10:L50.2|Orphanet:300359|UMLS:C3280914 owl:Class MONDO:0010999 biolink:NamedThing fallot complex-intellectual disability-growth delay syndrome Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. tmpte7i6ely_mondo_relaxed.owl FALLOT complex with severe mental and growth retardation|Bindewald-Ulmer-Müller syndrome|Bindewald Ulmer Muller syndrome GARD:0000893|UMLS:C1832735|MESH:C536608|OMIM:601127|Orphanet:3304|SCTID:723336008|ICD10:Q87.8 owl:Class MONDO:0005023 biolink:NamedThing ductal breast carcinoma in situ A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. tmpte7i6ely_mondo_relaxed.owl non-infiltrating ductal breast carcinoma|non-infiltrating ductal adenocarcinoma of breast|non-infiltrating intraductal breast adenocarcinoma|non-invasive ductal breast adenocarcinoma|stage 0 mammary duct carcinoma|non-infiltrating ductal breast adenocarcinoma|non-infiltrating intraductal adenocarcinoma of the breast|ductal carcinoma in situ (DCIS)|non-invasive intraductal adenocarcinoma of breast|non-invasive ductal carcinoma of the breast|ductal carcinoma in situ of the breast|intraductal breast carcinoma|breast ductal carcinoma in situ|non-infiltrating ductal carcinoma of breast|non-invasive ductal carcinoma of breast|ductal carcinoma in situ|non-infiltrating ductal adenocarcinoma of the breast|non-infiltrating intraductal carcinoma|ductal carcinoma in situ of breast|non-invasive intraductal adenocarcinoma of the breast|non-infiltrating ductal carcinoma of the breast|non-invasive intraductal breast adenocarcinoma|non-invasive ductal adenocarcinoma of breast|DCIS|non-infiltrating intraductal adenocarcinoma|non-invasive ductal breast carcinoma|ductal breast carcinoma in situ|carcinoma in situ of mammary duct|non-invasive ductal adenocarcinoma of the breast|mammary duct carcinoma in situ|non-infiltrating intraductal adenocarcinoma of breast|intraductal carcinoma of the breast|intraductal carcinoma|intraductal carcinoma of breast|mammary duct in situ carcinoma SCTID:189336000|MESH:D002285|NCIT:C2924|EFO:0000432|ICDO:8500/2|DOID:8791|ICD9:233.0|ONCOTREE:DCIS|DOID:0060074 owl:Class NCBITaxon:39700 biolink:NamedThing Trypanozoon tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5690 biolink:NamedThing Trypanosoma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008009 biolink:NamedThing monilethrix Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. tmpte7i6ely_mondo_relaxed.owl nodose hair|MNLIX|monilethrix|moniliform hair syndrome GARD:0000093|UMLS:C0546966|OMIM:158000|SCTID:69488000|Orphanet:573|MESH:D056734|ICD10:Q84.1|DOID:0050472|NCIT:C84894 https://rarediseases.info.nih.gov/diseases/93/monilethrix owl:Class MONDO:0002879 biolink:NamedThing uterine body mixed cancer A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. tmpte7i6ely_mondo_relaxed.owl malignant corpus uteri mixed neoplasm|malignant uterine body mixed tumor|malignant mixed tumor of uterine corpus|malignant mixed tumor of body of uterus|malignant body of uterus mixed tumor|malignant mixed neoplasm of uterine corpus|malignant mixed tumor of the body of uterus|malignant mixed tumor of uterine body|malignant uterine corpus mixed tumor|malignant mixed neoplasm of the uterine corpus|malignant mixed neoplasm of body of uterus|malignant mixed neoplasm of the corpus uteri|malignant mixed tumor of the corpus uteri|malignant mixed neoplasm of corpus uteri|malignant mixed neoplasm of uterine body|malignant corpus uteri mixed tumor|malignant mixed tumor of corpus uteri|malignant mixed neoplasm of the body of uterus|malignant body of uterus mixed neoplasm|malignant mixed neoplasm of the uterine body|malignant uterine body mixed neoplasm|malignant mixed tumor of the uterine corpus|malignant mixed tumor of the uterine body|malignant uterine corpus mixed epithelial and mesenchymal neoplasm UMLS:C1334628|DOID:4114|NCIT:C6311 owl:Class UBERON:0004182 biolink:NamedThing mammary gland cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005154 biolink:NamedThing epithelial cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002284 biolink:NamedThing myeloid dendritic cell differentiation involved in immune response The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. tmpte7i6ely_mondo_relaxed.owl myeloid dendritic cell differentiation during immune response owl:Class GO:0060840 biolink:NamedThing artery development The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001568 biolink:NamedThing blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011580 biolink:NamedThing cerebellar ataxia and hypergonadotropic hypogonadism tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia and hypergonadotropic hypogonadism MESH:C565308|Orphanet:1173|OMIM:605672|UMLS:C1854064 owl:Class MONDO:0008935 biolink:NamedThing cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. tmpte7i6ely_mondo_relaxed.owl Gordon-Holmes syndrome|Gordon Holmes syndrome|LHRH deficiency and ataxia|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|GDHS|cerebellar ataxia - hypogonadism|luteinizing hormone-releasing hormone deficiency with ataxia|luteinizing hormone releasing hormone, deficiency of with ataxia DOID:0111587|ICD10:G11.8|MESH:C565870|UMLS:C1859305|OMIM:212840|GARD:0003314|Orphanet:1173|OMIM:605672 owl:Class HGNC:626 biolink:NamedThing APRT tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006497 biolink:NamedThing protein lipidation The covalent attachment of lipid groups to an amino acid in a protein. tmpte7i6ely_mondo_relaxed.owl protein amino acid lipidation|lipid:protein modification owl:Class GO:0006464 biolink:NamedThing cellular protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpte7i6ely_mondo_relaxed.owl protein tagging activity|process resulting in protein modification|protein modification process owl:Class MONDO:0018933 biolink:NamedThing Mazabraud syndrome Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported. tmpte7i6ely_mondo_relaxed.owl Myxoma with fibrous dysplasia SCTID:699251001|ICD9:733.29|ICD10:M85.0|UMLS:CN205323|Orphanet:57782|ICD9:215.9 owl:Class MONDO:0007456 biolink:NamedThing diarrhea, glucose-stimulated secretory, with common variable immunodeficiency tmpte7i6ely_mondo_relaxed.owl diarrhea, glucose-stimulated secretory, with common variable immunodeficiency UMLS:C1852087|OMIM:125890|MESH:C565099 owl:Class MONDO:0011295 biolink:NamedThing schizophrenia 7 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32. tmpte7i6ely_mondo_relaxed.owl schizophrenia 7|SCZD7|schizophrenia susceptibility locus, chromosome 13Q-related|schizophrenia 7 with or without an affective disorder OMIM:603176|DOID:0070083 owl:Class MONDO:0012175 biolink:NamedThing cataract 28 A cataract that has material basis in variation in the region 6p12-q12. tmpte7i6ely_mondo_relaxed.owl ARCC1|cataract 28|age-related cortical cataract 1|CTRCT28|cataract type 28|cataract, age-related cortical, 1 MESH:C563812|UMLS:C1836942|OMIM:609026|DOID:0110244 owl:Class HGNC:29205 biolink:NamedThing ERGIC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004673 biolink:NamedThing lower lip cancer A malignant neoplasm involving the lower lip. tmpte7i6ely_mondo_relaxed.owl malignant lower lip neoplasm|malignant neoplasm of lower lip|lower lip cancer|cancer of lower lip SCTID:363373004|DOID:8883|ICD9:140.1|UMLS:C0432520|ICD10:C00.1 owl:Class MONDO:0004869 biolink:NamedThing pelvic varices A varicose disease that involves the pelvic region of trunk. tmpte7i6ely_mondo_relaxed.owl pelvic region of trunk varicose disease|varicose disease of pelvic region of trunk UMLS:C0155795|ICD10:I86.2|DOID:9742|ICD9:456.5|SCTID:17406005 owl:Class HGNC:14550 biolink:NamedThing CDHR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:903 biolink:NamedThing AXIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022205 biolink:NamedThing pustular psoriasis tmpte7i6ely_mondo_relaxed.owl Pustular psoriasis|pustular psoriasis ICD9:696.1|MEDGEN:508876|UMLS:C0152081|SCTID:200973000|GARD:0012813 owl:Class MONDO:0045010 biolink:NamedThing glycoprotein metabolism disease A disease that has its basis in the disruption of glycoprotein metabolic process. tmpte7i6ely_mondo_relaxed.owl glycoprotein metabolism disease|glycoprotein metabolic process disease|disorder of glycoprotein metabolism|disorder of glycoprotein metabolic process UMLS:C0342844|SCTID:238045003 Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) owl:Class HGNC:1406 biolink:NamedThing CACNG2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000777 biolink:NamedThing Abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. tmpte7i6ely_mondo_relaxed.owl Abnormality of the thymus SNOMEDCT_US:93297002|UMLS:C0685891|UMLS:C0262650 human_phenotype owl:Class MONDO:0009081 biolink:NamedThing deafness, congenital, with total albinism tmpte7i6ely_mondo_relaxed.owl deafness, congenital, with total albinism MESH:C565646|OMIM:220900|UMLS:C1857343 owl:Class MONDO:0023196 biolink:NamedThing frontonasal malformation cloacal exstrophy tmpte7i6ely_mondo_relaxed.owl fronto nasal malformation cloacal exstrophy GARD:0002389 https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy owl:Class CL:0002232 biolink:NamedThing epithelial cell of prostatic duct An epithelial cell of prostatic duct. tmpte7i6ely_mondo_relaxed.owl ductal epithelial cell of prostate FMA:74224 tmeehan 2010-09-07T01:55:51Z CL:1000462 cell owl:Class CL:0002231 biolink:NamedThing epithelial cell of prostate An epithelial cell of the prostate. tmpte7i6ely_mondo_relaxed.owl prostate epithelial cell FMA:66817|FMA:256163 tmeehan 2010-09-07T01:49:29Z CL:1000295|CL:1000408 cell owl:Class UBERON:0009122 biolink:NamedThing adenohypophyseal placode tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000243 biolink:NamedThing Trigonocephaly Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. tmpte7i6ely_mondo_relaxed.owl Triangular head shape|Triangular cranium shape|Triangular skull shape|Wedge shaped head|Wedge shaped skull|Wedge shaped cranium UMLS:C4280665|UMLS:C0265535|SNOMEDCT_US:28740008|UMLS:C4280666|MSH:D003398 This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. human_phenotype owl:Class HP:0002648 biolink:NamedThing Abnormality of calvarial morphology The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. tmpte7i6ely_mondo_relaxed.owl Abnormality of skull bone morphology|Abnormality of the shape of cranium|Abnormal cranium morphology|Abnormality of the shape of skull bones|Abnormally shaped skull|Abnormality of the shape of calvarium|Abnormality of cranial bone morphology UMLS:C4025692|UMLS:C4280260 human_phenotype owl:Class MONDO:0012514 biolink:NamedThing hypomyelinating leukodystrophy 5 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, type 5|hypomyelination and congenital cataract|hypomyelinating leukodystrophy type 5|hypomyelination-congenital cataract syndrome|leukodystrophy, hypomyelinating, 5|HLD5|FAM126A leukodystrophy|hypomyelination - congenital cataract|leukodystrophy caused by mutation in FAM126A|hypomyelination and congenital cataract: HCC Orphanet:85163|ICD10:G37.8|GARD:0011980|SCTID:702379005|ICD9:341.8|OMIM:610532|MESH:C567166|UMLS:C1864663|DOID:0060793 owl:Class HGNC:24116 biolink:NamedThing RNASEH2C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013847 biolink:NamedThing chromosome 16p11.2 duplication syndrome Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 14B|proximal trisomy 16p11.2|16p11.2 duplication|16p11.2 microduplication|chromosome 16p11.2 duplication syndrome|proximal 16p11.2 microduplication syndrome|proximal dup(16)(p11.2)|16p11.2 duplication syndrome|susceptibility to autism, 14B|AUTS14B SCTID:765142003|ICD10:Q92.3|UMLS:C3553407|Orphanet:370079|DOID:0060430|OMIM:614671|GARD:0012388 owl:Class ECTO:0000200 biolink:NamedThing exposure to lipid An exposure to lipid. tmpte7i6ely_mondo_relaxed.owl exposure to lipid owl:Class MONDO:0000252 biolink:NamedThing inflammatory diarrhea An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa. tmpte7i6ely_mondo_relaxed.owl SCTID:95544006|DOID:0050132 owl:Class GO:0033059 biolink:NamedThing cellular pigmentation The deposition or aggregation of coloring matter in a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019031 biolink:NamedThing thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. tmpte7i6ely_mondo_relaxed.owl congenital dyserythropoietic anemia with thombocytopenia|X-linked congenital dyserythropoietic anemia with thrombocytopenia|XDAT SCTID:722475006|ICD10:D69.4|OMIM:300367|UMLS:C4302508|Orphanet:67044 owl:Class MONDO:0022151 biolink:NamedThing Chitty Hall Webb syndrome tmpte7i6ely_mondo_relaxed.owl bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay SCTID:725103004|MESH:C535929|UMLS:C2931066|GARD:0001277 https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome owl:Class UBERON:0019293 biolink:NamedThing white matter of pontine tegmentum tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000162 biolink:NamedThing parietal cell A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl. tmpte7i6ely_mondo_relaxed.owl oxyntic cell BTO:0001780|FMA:62901 cell owl:Class CL:0000161 biolink:NamedThing acid secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class UBERON:0004315 biolink:NamedThing distal phalanx of pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003867 biolink:NamedThing distal phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032778 biolink:NamedThing arthrogryposis multiplex congenita 3, myogenic type tmpte7i6ely_mondo_relaxed.owl AMCM|arthrogryposis multiplex congenita, myogenic type OMIM:618484 owl:Class HGNC:10671 biolink:NamedThing SDCCAG8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010189 biolink:NamedThing vitiligo, progressive, with intellectual disability and urethral duplication tmpte7i6ely_mondo_relaxed.owl vitiligo, progressive, with mental retardation and urethral duplication|vitiligo, progressive, with intellectual disability and urethral duplication UMLS:C1848532|OMIM:277465|MESH:C564739 owl:Class MONDO:0006298 biolink:NamedThing mediastinal malignant germ cell tumor An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma. tmpte7i6ely_mondo_relaxed.owl malignant germ cell tumor of mediastinum|malignant germ cell neoplasm of mediastinum|malignant germ cell neoplasm of the mediastinum|malignant mediastinal germ cell tumor|mediastinal germ cell tumor, malignant|thymic malignant germ cell tumor|malignant germ cell tumor of the mediastinum|mediastinal malignant germ cell tumor|malignant mediastinal germ cell neoplasm NCIT:C6446|EFO:1000366|UMLS:C1334597|SCTID:713293002 owl:Class GO:0010604 biolink:NamedThing positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001515 biolink:NamedThing thoracic aorta tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015536 biolink:NamedThing papular xanthoma Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. tmpte7i6ely_mondo_relaxed.owl ICD10:D76.3|SCTID:765221009|Orphanet:158008|UMLS:CN199692 owl:Class UBERON:0004731 biolink:NamedThing neuromere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007584 biolink:NamedThing exostoses-anetodermia-brachydactyly type E syndrome Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl exostoses with anetodermia and brachydactyly, type E UMLS:C1851428|OMIM:133690|ICD10:Q87.5|MESH:C565034|Orphanet:1962 owl:Class GO:0042074 biolink:NamedThing cell migration involved in gastrulation The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001667 biolink:NamedThing ameboidal-type cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. tmpte7i6ely_mondo_relaxed.owl ameboid cell migration|amoeboid cell migration|amoeboidal cell migration owl:Class MONDO:0007114 biolink:NamedThing angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. tmpte7i6ely_mondo_relaxed.owl ASPED|Angel shaped phalangoepiphyseal dysplasia|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia Orphanet:63442|OMIM:105835|MedDRA:10066017|ICD10:Q78.8|GARD:0000671|MESH:C536361|SCTID:720984008 owl:Class MONDO:0001019 biolink:NamedThing suppression amblyopia A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. tmpte7i6ely_mondo_relaxed.owl strabismic amblyopia SCTID:35600002|ICD10:H53.03|UMLS:C0750903|DOID:10375|ICD9:368.01 owl:Class MONDO:0001020 biolink:NamedThing amblyopia Decreased vision that results from abnormal visual development. tmpte7i6ely_mondo_relaxed.owl amblyopia|lazy eye|amblyopia (disease) amblyopia (disease) DOID:10376|HP:0000646|SCTID:387742006|UMLS:C0002418|ICD10:H53.00|NCIT:C118764|CSP:1114-9655|ICD9:368.00 owl:Class MONDO:0017603 biolink:NamedThing ALK-negative anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK). tmpte7i6ely_mondo_relaxed.owl anaplastic large cell lymphoma, ALK-negative|ALCL, ALK-|ALK-negative anaplastic large cell lymphoma|ALK- ALCL|ALK- anaplastic large cell lymphoma ICDO:9702/3|Orphanet:300903|EFO:1000083|ICD10:C84.7|UMLS:C1332078|NCIT:C37194 owl:Class MONDO:0020325 biolink:NamedThing anaplastic large cell lymphoma Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. tmpte7i6ely_mondo_relaxed.owl Ki-1 lymphoma|CD30 Positive anaplastic large cell lymphoma|CD30 positive anaplastic large cell lymphoma|ALCL|sACL|Ki-1 positive anaplastic large cell lymphoma|anaplastic large cell lymphoma|Ki-1+ anaplastic large cell lymphoma|Ki-1+ ALCL|primary systemic ALCL MESH:D017728|EFO:0003032|ICD10:C84.6|UMLS:C0206180|ICDO:9714/3|Orphanet:98841|ONCOTREE:ALCL|DOID:0050744|ICD9:200.6|ICD10:C84.7|SCTID:277637000|GARD:0003112|ICD9:200.60|NCIT:C3720|HGNC:427 https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma owl:Class MONDO:0014870 biolink:NamedThing NEK9-related lethal skeletal dysplasia NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. tmpte7i6ely_mondo_relaxed.owl lethal congenital contracture syndrome 10|lethal congenital contracture syndrome type 10|LCCS10|lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome ICD10:Q77.2|UMLS:C4310760|OMIM:617022|Orphanet:464366 owl:Class HP:0000077 biolink:NamedThing Abnormality of the kidney An abnormality of the kidney. tmpte7i6ely_mondo_relaxed.owl Renal anomalies|Abnormal kidney|Renal anomaly|Abnormality of the kidney MSH:D007674|UMLS:C0022658|SNOMEDCT_US:90708001|UMLS:C0266292|SNOMEDCT_US:44513007 The kidney is a paired organ whose primary function is the production of urine. human_phenotype owl:Class MONDO:0013174 biolink:NamedThing primary ciliary dyskinesia 13 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 13|ciliary dyskinesia, primary, type 13|ciliary dyskinesia, primary, 13|DNAAF1 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAAF1|primary ciliary dyskinesia 13 with or without situs inversus|CILD13|primary ciliary dyskinesia type 13|ciliary dyskinesia, primary, 13, with or without situs inversus OMIM:613193|DOID:0110618|UMLS:C2750790|ICD10:Q34.8|MESH:C567713|Orphanet:244 owl:Class MONDO:0016876 biolink:NamedThing partial deletion of chromosome 11 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 11|partial deletion of chromosome type 11 Orphanet:261816|ICD10:Q93.5 owl:Class HGNC:10526 biolink:NamedThing SALL2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022405 biolink:NamedThing hair cycle process A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019332 biolink:NamedThing punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. tmpte7i6ely_mondo_relaxed.owl type I punctate palmoplantar keratoderma|keratoderma, palmoplantar punctate type 1|PPKP1|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|punctate palmoplantar keratoderma type I|Buschke-Fischer-Brauer syndrome|Brauer-Buschke-Fischer syndrome OMIM:148600|SCTID:717184007|OMIM:614936|ICD10:Q82.8|Orphanet:79501|GARD:0003103|UMLS:CN205995 owl:Class MONDO:0024360 biolink:NamedThing central sleep apnea caused by high altitude tmpte7i6ely_mondo_relaxed.owl central sleep apnea caused by high altitude|central sleep apnea due to high altitude UMLS:C4075997|SCTID:91441000119109 owl:Class MONDO:0000600 biolink:NamedThing nosophobia A specific phobia that involves an irrational fear of contracting a disease. tmpte7i6ely_mondo_relaxed.owl DOID:0060048|EFO:1001903 owl:Class UBERON:0000106 biolink:NamedThing zygote stage A stage at which the organism is a single cell produced by means of sexual reproduction. tmpte7i6ely_mondo_relaxed.owl zygote|1-cell stage|fertilized egg stage|one-cell stage|one cell stage|zygotum owl:Class MONDO:0010590 biolink:NamedThing FG syndrome 1 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. tmpte7i6ely_mondo_relaxed.owl OKS|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FG syndrome 1|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FG syndrome type 1|FG syndrome caused by mutation in MED12|Opitz-Kaveggia syndrome|MED12 FG syndrome|FG syndrome|Keller syndrome Orphanet:93932|Orphanet:323|OMIM:305450|UMLS:C0220769 owl:Class MONDO:0017183 biolink:NamedThing hyperinsulinism due to UCP2 deficiency HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556|SCTID:721834007|ICD10:E16.1|UMLS:C4303082 owl:Class UBERON:0001577 biolink:NamedThing facial muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015701 biolink:NamedThing T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. tmpte7i6ely_mondo_relaxed.owl interleukin-7 receptor alpha deficiency|IL-7Ralpha deficiency|T-B+ SCID due to IL-7Ralpha deficiency|IL-7R OMIM:608971|Orphanet:169154|DOID:0060015|ICD10:D81.2|UMLS:C1837028 MONDO:0000575 owl:Class MONDO:0004386 biolink:NamedThing uterine corpus atypical polypoid adenomyoma An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision. tmpte7i6ely_mondo_relaxed.owl atypical polypoid adenomyoma of body of uterus|body of uterus atypical polypoid adenomyoma UMLS:C1519844|NCIT:C40235|DOID:7878 owl:Class MONDO:0003236 biolink:NamedThing atypical polypoid adenomyoma An adenomyoma characterized by the presence of marked glandular architectural complexity. tmpte7i6ely_mondo_relaxed.owl atypical polypoid adenomyoma (morphologic abnormality)|atypical polypoid adenomyoma NCIT:C6895|DOID:4993|UMLS:C1300347 owl:Class MONDO:0016293 biolink:NamedThing congenital stationary night blindness tmpte7i6ely_mondo_relaxed.owl night blindness, congenital stationary|congenital essential nyctalopia OMIM:615058|OMIM:610444|Orphanet:215|SCTID:232061009|OMIM:613830|OMIM:610427|SCTID:193687000|ICD10:H53.63|OMIM:163500|ICD9:368.61|OMIM:616389|MESH:C537743|OMIM:613216|OMIM:610445|OMIM:614565|OMIMPS:310500|OMIM:310500|OMIM:300071|OMIM:257270|ICD10:H53.6|DOID:0050534|MESH:C536122 owl:Class HGNC:13818 biolink:NamedThing SLC12A5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033372 biolink:NamedThing developmental and epileptic encephalopathy, 63 tmpte7i6ely_mondo_relaxed.owl DEE63|epileptic encephalopathy, early infantile, 63|EIEE63 OMIM:617976|DOID:0080426|UMLS:CN244926 owl:Class MONDO:0003104 biolink:NamedThing epicardium cancer A malignant neoplasm involving the epicardium. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of epicardium|malignant epicardium neoplasm|malignant epicardial neoplasm|malignant epicardial tumor|malignant neoplasm of the epicardium|cancer of epicardium|malignant tumor of the epicardium|epicardium cancer|epicardial tumor|malignant tumor of epicardium NCIT:C4568|DOID:4699|UMLS:C1290403|UMLS:C2607932|NCIT:C5347|SCTID:126733004 owl:Class MONDO:0001322 biolink:NamedThing pericardium cancer A malignant neoplasm involving the pericardium. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of pericardium|malignant neoplasm of the pericardium|malignant pericardial neoplasm|pericardium cancer|malignant tumor of pericardium|cancer of pericardium|malignant tumor of the pericardium|malignant pericardial tumor|malignant pericardium neoplasm|pericardial tumor NCIT:C4567|UMLS:C0346609|NCIT:C4651|DOID:116|ICD10:C38.0|SCTID:126734005 owl:Class UBERON:0036304 biolink:NamedThing anatomical border tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011178 biolink:NamedThing infantile convulsions and choreoathetosis Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence. tmpte7i6ely_mondo_relaxed.owl convulsions, familial infantile, with paroxysmal choreoathetosis|infantile convulsions and paroxysmal choreoathetosis, familial|infantile convulsions and choreoathetosis|convulsions, infantile, with paroxysmal choreoathetosis, familial|ICCA|paroxysmal kinesigenic dyskinesia and infantile convulsions|Icca syndrome|ICCA syndrome|PKD/IC|paroxysmal kinesigenic dyskinesia with infantile convulsions OMIM:602066|UMLS:C1865926|MESH:C535522|SCTID:715534008|NCIT:C126650|Orphanet:31709|ICD10:G40.4|GARD:0008553 owl:Class MONDO:0015642 biolink:NamedThing benign partial infantile seizures tmpte7i6ely_mondo_relaxed.owl Orphanet:166311 owl:Class MONDO:0022723 biolink:NamedThing chondrodysplasia tmpte7i6ely_mondo_relaxed.owl chondrodysplasia SCTID:205465004 owl:Class MONDO:0044689 biolink:NamedThing recurrent idiopathic neuroretinitis tmpte7i6ely_mondo_relaxed.owl RINR Orphanet:499103 owl:Class MONDO:0002214 biolink:NamedThing brain germinoma A germinoma (disease) that involves the brain. tmpte7i6ely_mondo_relaxed.owl intracranial germinoma|germinoma of brain|germinoma of the brain|brain germinoma (disease) UMLS:C1332606|DOID:2127|NCIT:C6284 owl:Class MONDO:0002999 biolink:NamedThing central nervous system germinoma A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl germinoma of CNS|intracranial germinoma|germinoma of the central nervous system|central nervous system germinoma|central nervous system germinoma (disease)|germinoma of the CNS|germinoma of central nervous system NCIT:C7009|DOID:4438 owl:Class UBERON:0002224 biolink:NamedThing thoracic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000141 biolink:NamedThing immaterial entity tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001911 biolink:NamedThing negative regulation of leukocyte mediated cytotoxicity Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. tmpte7i6ely_mondo_relaxed.owl negative regulation of immune cell mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity|down-regulation of leukocyte mediated cytotoxicity|inhibition of leukocyte mediated cytotoxicity owl:Class GO:0031342 biolink:NamedThing negative regulation of cell killing Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. tmpte7i6ely_mondo_relaxed.owl down regulation of cell killing|inhibition of cell killing|downregulation of cell killing|down-regulation of cell killing owl:Class MONDO:0044210 biolink:NamedThing thalassemia minor The inheritance of only one mutated beta-globin allele (beta+ or beta0). tmpte7i6ely_mondo_relaxed.owl beta thalassemia trait SCDO:0000114|ICD10:D56.3|MedDRA:10054662|SCTID:19442009 owl:Class MONDO:0009619 biolink:NamedThing microcephaly-micromelia syndrome tmpte7i6ely_mondo_relaxed.owl microcephaly-micromelia syndrome|MIMIS Orphanet:572768|UMLS:C1855079|MESH:C565382|OMIM:251230 owl:Class MONDO:0015293 biolink:NamedThing segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. tmpte7i6ely_mondo_relaxed.owl SOLAMEN syndrome SCTID:763867001|UMLS:CN199243|Orphanet:137608 owl:Class GO:1903046 biolink:NamedThing meiotic cell cycle process A process that is part of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12442 biolink:NamedThing TYR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014011 biolink:NamedThing autosomal recessive congenital ichthyosis 10 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. tmpte7i6ely_mondo_relaxed.owl ARCI10|ichthyosis, congenital, autosomal recessive 10|autosomal recessive congenital ichthyosis type 10|ichthyosis, congenital, autosomal recessive type 10 ICD10:Q80.2|Orphanet:79394|DOID:0060719|UMLS:C3554355|OMIM:615024 owl:Class MONDO:0019306 biolink:NamedThing congenital non-bullous ichthyosiform erythroderma A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. tmpte7i6ely_mondo_relaxed.owl congenital non bullous ichthyosiform erythroderma|congenital ichthyosiform erythroderma|CIE|ichthyosiform erythroderma|lamellar desquamation of the newborn|lamellar ichthyosis|erythrodermic ichthyosis|nonbullous congenital ichthyosiform erythroderma|congenital ichthyosiform erythroderma (disease)|alligator skin|non-bullous congenital ichthyosiform erythroderma OMIM:615024|OMIM:615022|HP:0007431|ICD10:Q80.2|OMIM:612281|OMIM:606545|OMIM:242100|OMIM:615023|Orphanet:79394|SCTID:205550003|DOID:1699 owl:Class HGNC:966 biolink:NamedThing BBS1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7 biolink:NamedThing chromosome 7 (Human) tmpte7i6ely_mondo_relaxed.owl 7 159345973 0 hg38 owl:Class MONDO:0003788 biolink:NamedThing childhood embryonal testis carcinoma An embryonal carcinoma that arises from the testis during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric embryonal carcinoma of testis|pediatric testicular embryonal carcinoma|testicular embryonal carcinoma of childhood|childhood embryonal carcinoma of testis|childhood testicular embryonal carcinoma|childhood embryonal carcinoma of the testis|pediatric embryonal carcinoma of the testis DOID:6162|UMLS:C1333007|NCIT:C6545 owl:Class MONDO:0018572 biolink:NamedThing severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:436141|UMLS:CN237585|ICD10:Q87.8 owl:Class HP:0004328 biolink:NamedThing Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). tmpte7i6ely_mondo_relaxed.owl Abnormality of the anterior segment of the eyeball|Abnormal anterior segment morphology|Abnormality of the anterior segment of the globe|Abnormality of the anterior segment of the eye UMLS:C4025355 The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. peter 2008-02-27T04:23:00Z human_phenotype owl:Class UBERON:0007228 biolink:NamedThing vestibular nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007247 biolink:NamedThing nucleus of superior olivary complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022330 biolink:NamedThing 4-hydroxyphenylacetic aciduria tmpte7i6ely_mondo_relaxed.owl MESH:C535315|GARD:0008155 https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria owl:Class UBERON:0007688 biolink:NamedThing anlage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016829 biolink:NamedThing familial visceral myopathy A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. tmpte7i6ely_mondo_relaxed.owl visceral myopathy familial|hereditary hollow visceral myopathy|megaduodenum and/or megacystis|pseudoobstruction idiopathic intestinal|familial hollow visceral myopathy SCTID:63684002|GARD:0003443|OMIM:155310|UMLS:C1835084|UMLS:CN202146|Orphanet:2604|UMLS:C0266833|ICD9:359.89|ICD10:K56.0 owl:Class MONDO:0018015 biolink:NamedThing intermittent hydrarthrosis tmpte7i6ely_mondo_relaxed.owl SCTID:711286009|Orphanet:329967|UMLS:C0149910|ICD10:M12.4 owl:Class ENVO:01001122 biolink:NamedThing gas planet A planet which is primarily composed of hydrogen and helium. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001686 biolink:NamedThing mass of environmental material An object which is composed primarily of an environmental material tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010279 biolink:NamedThing terminal osseous dysplasia-pigmentary defects syndrome Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. tmpte7i6ely_mondo_relaxed.owl Odpd|terminal osseous dysplasia|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|TOD|terminal osseous dysplasia and pigmentary defects|Odpf syndrome MESH:C564554|OMIM:300244|UMLS:C1846129|ICD10:Q87.2|Orphanet:88630 owl:Class SO:1000036 biolink:NamedThing inversion A continuous nucleotide sequence is inverted in the same position. tmpte7i6ely_mondo_relaxed.owl inversion owl:Class MONDO:0042491 biolink:NamedThing cervical squamous intraepithelial neoplasia A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures. tmpte7i6ely_mondo_relaxed.owl uterine cervix sil|cervix squamous intraepithelial lesion|cervical sil|cervical squamous intraepithelial neoplasia|squamous intraepithelial lesion of uterine cervix|uterine cervix squamous intraepithelial lesion|squamous intraepithelial lesion of the cervix uteri|squamous intraepithelial lesion of the uterine cervix|squamous intraepithelial lesion of cervix|squamous intraepithelial lesion of cervix uteri|cervical squamous intraepithelial lesion|cervix uteri sil|squamous intraepithelial lesion of the cervix|CIN|cervix uteri squamous intraepithelial lesion NCIT:C7346|MESH:D065310 owl:Class MONDO:0011715 biolink:NamedThing Seckel syndrome 2 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. tmpte7i6ely_mondo_relaxed.owl RBBP8 Seckel syndrome|Seckel syndrome 2|Seckel syndrome type 2|SCKL2|Seckel-type dwarfism 2|Seckel syndrome caused by mutation in RBBP8|microcephalic primordial dwarfism 2 UMLS:C1847572|DOID:0070013|Orphanet:808|OMIM:606744|MESH:C537534 owl:Class UBERON:0006936 biolink:NamedThing thymus subcapsular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003846 biolink:NamedThing thymus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007597 biolink:NamedThing factor VIII and Factor IX, combined deficiency of tmpte7i6ely_mondo_relaxed.owl F8F9D|factor 8 and Factor IX, combined deficiency of|factor VIII and factor IX, combined deficiency OF|familial multiple coagulation Factor deficiency 2|factor VIII and Factor IX, combined deficiency of OMIM:134510|UMLS:C1851376|MESH:C565024 owl:Class GO:0045666 biolink:NamedThing positive regulation of neuron differentiation Any process that activates or increases the frequency, rate or extent of neuron differentiation. tmpte7i6ely_mondo_relaxed.owl activation of neuron differentiation|stimulation of neuron differentiation|up regulation of neuron differentiation|upregulation of neuron differentiation|up-regulation of neuron differentiation owl:Class GO:0045664 biolink:NamedThing regulation of neuron differentiation Any process that modulates the frequency, rate or extent of neuron differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011570 biolink:NamedThing Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. tmpte7i6ely_mondo_relaxed.owl CMT2B2|AR-CMT2B2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|Arcmt2B|MED25 Charcot-Marie-Tooth disease type 2|ARCMT2B|Charcot-Marie-Tooth neuropathy, type 2B2|autosomal recessive axonal CMT4C3|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|Charcot Marie Tooth disease type 2B2|Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|CMT 2B2|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot-Marie-Tooth neuropathy type 2B2|Charcot-Marie-Tooth disease neuronal type 2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2|Charcot-Marie-Tooth disease, axonal, type 2B2 MESH:C537991|UMLS:C1854150|Orphanet:101101|DOID:0110179|GARD:0001249|OMIM:605589|SCTID:719981005|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2 owl:Class GO:0002793 biolink:NamedThing positive regulation of peptide secretion Any process that activates or increases the frequency, rate, or extent of peptide secretion. tmpte7i6ely_mondo_relaxed.owl up-regulation of peptide secretion|upregulation of peptide secretion|activation of peptide secretion|up regulation of peptide secretion|stimulation of peptide secretion owl:Class GO:0002791 biolink:NamedThing regulation of peptide secretion Any process that modulates the frequency, rate, or extent of peptide secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017648 biolink:NamedThing Sydenham chorea A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. tmpte7i6ely_mondo_relaxed.owl GARD:0007716|ICD10:I02.0|Orphanet:306731|ICD10:I02.9|MedDRA:10042732 owl:Class MONDO:0007994 biolink:NamedThing micromelic bone dysplasia with cloverleaf skull tmpte7i6ely_mondo_relaxed.owl micromelic bone dysplasia with cloverleaf skull MESH:C536429|OMIM:156830|Orphanet:2655|Orphanet:93274 owl:Class MONDO:0008547 biolink:NamedThing thanatophoric dysplasia type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. tmpte7i6ely_mondo_relaxed.owl thanatophoric dwarfism-cloverleaf skull syndrome|cloverleaf skull with thanatophoric dwarfism|thanatophoric dysplasia type II|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia, type 2|thanatophoric dysplasia, type II|thanatophoric dwarfism type 2|thanatophoric dwarfism - cloverleaf skull|thanatophoric dysplasia with straight femurs and cloverleaf skull|thanatophoric dysplasia with Kleeblattschaedel|TD2|type 2 thanatophoric dysplasia Orphanet:93274|ICD10:Q77.1|SCTID:389158007|GARD:0001402|UMLS:C1300257|ICD9:742.59|NCIT:C98584|OMIM:187601|OMIM:156830|MESH:C536508|UMLS:CN206542|Orphanet:2655 https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 owl:Class MONDO:0014308 biolink:NamedThing familial temporal lobe epilepsy 6 A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26. tmpte7i6ely_mondo_relaxed.owl familial temporal lobe epilepsy type 6|epilepsy, familial temporal lobe, 6|ETL6 OMIM:615697|UMLS:C3810320|Orphanet:163717|DOID:0060749 Editor note: TODO owl:Class MONDO:0005115 biolink:NamedThing temporal lobe epilepsy A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) tmpte7i6ely_mondo_relaxed.owl epilepsy, temporal lobe|epilepsy, familial temporal lobe|epilepsy of temporal lobe|temporal lobe epilepsy OMIMPS:600512|SCTID:193000002|NIFSTD:birnlex_12733|DOID:3328|UMLS:C0014556|OMIM:616461|OMIM:616436|MESH:D004833|EFO:0000773 owl:Class UBERON:0003351 biolink:NamedThing pharyngeal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010306 biolink:NamedThing X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|MRXSC|Cabezas type of X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic, Cabezas type|mental retardation, X-linked, syndromic 15 (Cabezas type)|intellectual disability, X-linked, syndromic 15|Cabezas syndrome; syndromic X-linked mental retardation 15|mental retardation, X-linked, syndromic 15|syndromic X-linked intellectual disability Cabezas type|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|X-linked mental retardation with short stature, hypogonadism, and abnormal gait|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|X-linked mental retardation with short stature|Cul4B-related X-linked intellectual disability|intellectual disability, X-linked, syndromic 15 (Cabezas type)|X-linked intellectual disability, Cabezas type|mental retardation, X-linked, with short stature|MRSS|intellectual disability, X-linked, with short stature|X-linked intellectual disability with short stature|Cabezas syndrome|mental retardation, X-linked, syndromic, Cabezas type|MRXS15|Cabezas syndrome; syndromic X-linked intellectual disability 15 Orphanet:85293|UMLS:C1845861|UMLS:C1845845|OMIM:300354|ICD10:Q87.8|SCTID:719811001|DOID:0060822|GARD:0013244 OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. owl:Class MONDO:0016942 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 5 tmpte7i6ely_mondo_relaxed.owl partial duplication/triplication of the short arm of chromosome 5|partial trisomy/tetrasomy of chromosome 5p|partial trisomy/tetrasomy of the short arm of chromosome type 5|partial duplication/triplication of chromosome 5p Orphanet:262725 owl:Class MONDO:0017762 biolink:NamedThing disorder of copper metabolism An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. tmpte7i6ely_mondo_relaxed.owl inborn error of cellular copper ion homeostasis|rare inborn error of cellular copper ion homeostasis|inborn cellular copper ion homeostasis disorder|copper Transport disorders UMLS:CN043585|MedDRA:10061091|ICD9:275.1|SCTID:79886009|UMLS:C0012714|ICD10:E83.0|Orphanet:309839 owl:Class HGNC:6665 biolink:NamedThing LOXL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009274 biolink:NamedThing ghosal hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. tmpte7i6ely_mondo_relaxed.owl GHOSAL hematodiaphyseal dysplasia|ghosal hematodiaphyseal dysplasia|Ghosal hematodiaphyseal dysplasia syndrome|GHDD|diaphyseal dysplasia-anemia syndrome|Ghosal syndrome Orphanet:1802|ICD9:756.59|OMIM:231095|SCTID:389214003|GARD:0010297|MESH:C565551 https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome owl:Class CL:0000118 biolink:NamedThing basket cell Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells. tmpte7i6ely_mondo_relaxed.owl https://orcid.org/0000-0002-2825-0621 cell owl:Class MONDO:0037743 biolink:NamedThing mediastinal soft tissue cancer A malignant neoplasm that arises from the soft tissues of the mediastinum. tmpte7i6ely_mondo_relaxed.owl malignant mediastinal soft tissue neoplasm|malignant soft tissue neoplasm of the mediastinum|malignant mediastinal soft tissue tumor|malignant soft tissue tumor of mediastinum|malignant soft tissue tumor of the mediastinum|malignant soft tissue neoplasm of mediastinum|malignant mediastinal mesenchymal tumor|mediastinal mesenchymal tumor, malignant UMLS:C1334599|NCIT:C6642 owl:Class MONDO:0021077 biolink:NamedThing cystic neoplasm A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma. tmpte7i6ely_mondo_relaxed.owl cystic tumor|cystic neoplasm UMLS:C1333190|NCIT:C6784 owl:Class CHEBI:32988 biolink:NamedThing amide An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpte7i6ely_mondo_relaxed.owl Amide|amides owl:Class GO:0007596 biolink:NamedThing blood coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. tmpte7i6ely_mondo_relaxed.owl blood clotting owl:Class GO:0007599 biolink:NamedThing hemostasis The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030852 biolink:NamedThing regulation of granulocyte differentiation Any process that modulates the frequency, rate or extent of granulocyte differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011376 biolink:NamedThing Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. tmpte7i6ely_mondo_relaxed.owl Vestibular abnormality UMLS:C0542259 The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. peter 2012-03-07T08:35:08Z human_phenotype owl:Class HP:0011390 biolink:NamedThing Morphological abnormality of the inner ear A structural anomaly of the internal part of the ear. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023381 The inner ear contains the cochlea and the semicircular canals. hecht 2012-03-09T04:59:24Z human_phenotype owl:Class MONDO:0022778 biolink:NamedThing cleft lip palate intellectual disability corneal opacity tmpte7i6ely_mondo_relaxed.owl GARD:0001380 https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity owl:Class MONDO:0032870 biolink:NamedThing intellectual developmental disorder with short stature and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl IDDSSBA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES DOID:0111674|OMIM:618687 owl:Class NCBITaxon:1913638 biolink:NamedThing Zoopagomycota tmpte7i6ely_mondo_relaxed.owl PMID:27738200|GC_ID:1 ncbi_taxonomy owl:Class GO:0042626 biolink:NamedThing ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. tmpte7i6ely_mondo_relaxed.owl ATPase activity, coupled to transmembrane movement of substances|P-P-bond-hydrolysis-driven transporter|ATPase activity, coupled to movement of substances|ATP-coupled transmembrane transporter activity|ATP-dependent transmembrane transporter activity|P-P-bond-hydrolysis-driven transmembrane transporter activity|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances owl:Class GO:0015399 biolink:NamedThing primary active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up the solute's concentration gradient, by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction and is powered by a primary energy source, directly using ATP. Primary energy sources known to be coupled to transport are chemical, electrical and solar sources. tmpte7i6ely_mondo_relaxed.owl primary active transporter owl:Class GO:1902680 biolink:NamedThing positive regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. tmpte7i6ely_mondo_relaxed.owl up-regulation of RNA formation|up-regulation of RNA biosynthetic process|upregulation of RNA formation|activation of RNA formation|positive regulation of RNA biosynthesis|up-regulation of RNA synthesis|activation of RNA anabolism|up regulation of RNA formation|up regulation of RNA synthesis|activation of RNA synthesis|up regulation of RNA biosynthetic process|activation of RNA biosynthesis|positive regulation of RNA synthesis|up-regulation of RNA biosynthesis|upregulation of RNA biosynthesis|upregulation of RNA biosynthetic process|up-regulation of RNA anabolism|positive regulation of RNA anabolism|up regulation of RNA biosynthesis|upregulation of RNA anabolism|up regulation of RNA anabolism|positive regulation of RNA formation|activation of RNA biosynthetic process|upregulation of RNA synthesis owl:Class MONDO:0030846 biolink:NamedThing spermatogenic failure 48 tmpte7i6ely_mondo_relaxed.owl SPGF48|spermatogenic failure 48 OMIM:619108 owl:Class GO:0007611 biolink:NamedThing learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7391 biolink:NamedThing MSX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003759 biolink:NamedThing childhood ovarian yolk sac tumor A yolk sac tumor that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl pediatric ovarian yolk Sac tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac neoplasm|childhood ovarian endodermal sinus tumor|ovary childhood endodermal sinus tumor|childhood ovarian yolk sac tumor|childhood ovarian yolk Sac neoplasm|pediatric ovarian endodermal sinus neoplasm|pediatric ovarian endodermal sinus tumor UMLS:C1332993|DOID:6083|NCIT:C6551 owl:Class MONDO:0006344 biolink:NamedThing ovarian yolk sac tumor A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular. tmpte7i6ely_mondo_relaxed.owl yolk Sac neoplasm of ovary|ovarian yolk Sac neoplasm|germ cell endodermal sinus neoplasm of the ovary|ovarian endodermal sinus neoplasm|ovarian endodermal sinus tumor|ovary yolk sac tumor|yolk Sac tumor of ovary|ovarian yolk sac tumor|endodermal sinus tumor of ovary|germ cell endodermal sinus tumor of ovary|yolk Sac tumor of the ovary|ovarian germ cell endodermal sinus neoplasm|endodermal sinus neoplasm of ovary|germ cell endodermal sinus tumor of the ovary|yolk sac tumor|endodermal sinus tumor of the ovary|germ cell endodermal sinus neoplasm of ovary|ovarian germ cell endodermal sinus tumor|endodermal sinus neoplasm of the ovary|yolk Sac neoplasm of the ovary SCTID:254876005|NCIT:C8107|EFO:1000437|UMLS:C0346188|ONCOTREE:OYST|DOID:5350 owl:Class UBERON:0005134 biolink:NamedThing metanephric nephron epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004211 biolink:NamedThing nephron epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:27310 biolink:NamedThing FLCN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002369 biolink:NamedThing adrenal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015361 biolink:NamedThing autosomal recessive hereditary demyelinating motor and sensory neuropathy tmpte7i6ely_mondo_relaxed.owl AR demyelinating HMSN UMLS:CN228928|ICD10:G60.0|Orphanet:140459 owl:Class MONDO:0013329 biolink:NamedThing familial clubfoot due to 17q23.1q23.2 microduplication 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. tmpte7i6ely_mondo_relaxed.owl hereditary clubfoot due to 17q23.1-q23.2 microduplication|chromosome 17q23.1-q23.2 DUPLICATION syndrome UMLS:C3150880|OMIM:613618|ICD10:Q66.8|Orphanet:238578|Orphanet:199315 owl:Class MONDO:0016046 biolink:NamedThing familial clubfoot with or without associated lower limb anomalies Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. tmpte7i6ely_mondo_relaxed.owl OMIM:613618|OMIM:119800|ICD10:Q66.8|UMLS:CN200725|Orphanet:199315 owl:Class MONDO:0030069 biolink:NamedThing hyper-IgE recurrent infection syndrome 5, autosomal recessive tmpte7i6ely_mondo_relaxed.owl HIES5|HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE|hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM:618944 owl:Class MONDO:0018037 biolink:NamedThing hyper-IgE syndrome A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. tmpte7i6ely_mondo_relaxed.owl hyperimmunoglobulin E syndrome|HIES|hyper-IgE recurrent infection syndrome DOID:0080545|OMIMPS:147060|ICD10:D82.4|NCIT:C3144|GARD:0010956|Orphanet:331223|UMLS:CN204280 owl:Class ECTO:0001082 biolink:NamedThing exposure to alcohol consumption An exposure event involving Alcohol Consumption tmpte7i6ely_mondo_relaxed.owl Alcohol Consumption exposure owl:Class MONDO:0044701 biolink:NamedThing childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder tmpte7i6ely_mondo_relaxed.owl CONDBA|neurodegeneration, childhood-onset, with brain atrophy|UBTF-related disorder Orphanet:500180|OMIM:617672|UMLS:CN469330 owl:Class MONDO:0011142 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, Kosho type|Dundar syndrome|MCEDS|ATCS|adducted thumb-clubfoot syndrome|Ehlers-Danlos syndrome, musculocontractural type 1|EDSmc|adducted thumb-club foot syndrome|CHST14-related EDS|D4ST1-deficient Ehlers-Danlos syndrome|EDSMC1|Ehlers-Danlos syndrome, type VIB, formerly|arthrogryposis, distal, with peculiar facies and hydronephrosis|EDS, Kosho type|EDSMC|adducted thumb clubfoot syndrome|D4ST1-deficient EDS|autosomal recessive adducted thumb-club foot syndrome|Ehlers-Danlos syndrome, musculocontractural type, 1|CHST14-related Ehlers-Danlos syndrome|musculocontractural Ehlers-Danlos syndrome|musculocontractural EDS|Ehlers-Danlos syndrome, type Vib|adducted thumbs-arthrogryposis syndrome, Dundar type|Ehlers-Danlos syndrome, type Vib, formerly|EDS, musculocontractural type|adducted thumbs Dundar type|Ehlers-Danlos syndrome, arthrogryposic type|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|EDS, arthrogryposic type|EDS6B, formerly GARD:0008486|Orphanet:2953|GARD:0000545|MESH:C000600608|OMIM:615539|ICD10:Q79.6|SCTID:720860004 https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type owl:Class MONDO:0010341 biolink:NamedThing autism, susceptibility to, X-linked 2 A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations). tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked|AUTSX2|susceptibility to X-linked autism 2|mental retardation, X-linked|autism, susceptibility to, X-linked 2|autism, susceptibility to, X-linked type 2 OMIM:300495|MESH:D038901 owl:Class MONDO:0000889 biolink:NamedThing haemophilus meningitis Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. tmpte7i6ely_mondo_relaxed.owl Haemophilus influenzae caused bacterial meningitis|Haemophilus influenzae bacterial meningitis DOID:0080179|MESH:D008583|ICD9:320.0|ICD10:G00.0|SCTID:192643004|EFO:1000955|MedDRA:10018953|SCTID:5900006 owl:Class MONDO:0021108 biolink:NamedThing meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. tmpte7i6ely_mondo_relaxed.owl meningitis|meninx inflammation|meningitis (disease)|inflammation of meninx meningitis (disease) NCIT:C26828|SCTID:7180009|ICD9:322.9 owl:Class MONDO:0011010 biolink:NamedThing Matthew-Wood syndrome Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. tmpte7i6ely_mondo_relaxed.owl pulmonary agenesis, microphthalmia, and diaphragmatic defect|microphthalmia, syndromic type 9|anophthalmia/microphthalmia and pulmonary hypoplasia|microphthalmia, isolated, with coloboma 8|Matthew Wood syndrome|spear syndrome|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|microphthalmia syndromic 9|microphthalmia syndromic type 9|microphthalmia, syndromic 9|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|pulmonary agenesis microphthalmi and diaphragmatic defect|Matthew-Wood syndrome|MCOPS9|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|anophthalmia-pulmonary hypoplasia syndrome OMIM:601186|GARD:0000713|ICD10:Q11.2|DOID:0050819|Orphanet:2470|UMLS:C1832661|MESH:C537768|DOID:0111807|Orphanet:98938|OMIM:615524|SCTID:722458000 owl:Class MONDO:0014979 biolink:NamedThing myoclonus, intractable, neonatal tmpte7i6ely_mondo_relaxed.owl myoclonus, intractable, neonatal|myoclonus, intractable, neonatal; NEIMY|NEIMY UMLS:C4310658|OMIM:617235 owl:Class MONDO:0006639 biolink:NamedThing adrenal cortex carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. tmpte7i6ely_mondo_relaxed.owl adrenocortical carcinoma (disease)|carcinoma of adrenal cortex|carcinoma of the adrenal cortex|adenocarcinoma, adrenocortical, malignant|adrenocortical cancer|adrenal cortical adenocarcinoma|cortical cell carcinoma|adrenal cortex carcinoma|adrenal cortical tumors|adrenal cortical carcinoma|adrenal cortical carcinoma (morphologic abnormality)|carcinoma, adrenocortical, malignant|adrenal cortex cancer|adrenal cortex adenocarcinoma|adrenocortical carcinoma|malignant adrenocortical tumor|cancer of the adrenal cortex|ACC|malignant tumour of adrenal cortex|malignant neoplasm of adrenal cortex EFO:1000796|SCTID:371964008|ONCOTREE:ACC|ICD10:C74.0|DOID:3948|DOID:3959|MedDRA:10001388|GARD:0000558|SCTID:255035007|NCIT:C9325|NCIT:C9327|ICDO:8370/3|HP:0006744|OMIM:202300|Orphanet:1501|DOID:660|UMLS:C0206686 owl:Class MONDO:0021312 biolink:NamedThing malignant tumor of adrenal cortex A cancer that involves the adrenal cortex. tmpte7i6ely_mondo_relaxed.owl malignant adrenocortical neoplasm|cancer of adrenal cortex|adrenal cortex cancer|malignant adrenocortical tumor|malignant neoplasm of adrenal cortex|malignant adrenal cortex tumor|malignant adrenal cortex neoplasm|malignant neoplasm of the adrenal cortex|malignant tumor of the adrenal cortex SCTID:371964008|NCIT:C9327 owl:Class MONDO:0009377 biolink:NamedThing hyperammonemia due to N-acetylglutamate synthase deficiency N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia. tmpte7i6ely_mondo_relaxed.owl Nags deficiency|N-acetylglutamate synthase deficiency|NAGSD|hyperammonemia due to N-acetylglutamate synthetase deficiency|N-acetylglutamate synthetase deficiency|hyperammonemia due to N-acetylglutamate synthase deficiency|NAG synthetase deficiency|N-acetyl glutamate synthetase deficiency|NAGS deficiency NCIT:C129307|OMIM:237310|Orphanet:927|ICD10:E72.2|MESH:C536109|GARD:0007158|SCTID:57119000 owl:Class MONDO:0000428 biolink:NamedThing Y-linked disease Y-linked form of disease. tmpte7i6ely_mondo_relaxed.owl genetic diseases, Y-chromosome linked|disease, Y-linked genetic|disease, Y-linked|disease or disorder, Y-linked|Y-linked disease or disorder|Y-linked genetic disease|Y linked genetic diseases|genetic diseases, Y linked|genetic diseases, Y chromosome linked|Y-linked genetic diseases|diseases, Y-linked genetic|genetic disease, Y-linked MESH:D050174|DOID:0050738|UMLS:C1563751 owl:Class UBERON:0007842 biolink:NamedThing membrane bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014414 biolink:NamedThing STAT3-related early-onset multisystem autoimmune disease tmpte7i6ely_mondo_relaxed.owl ADMIO1|ADMIO|autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset, 1 ICD10:M35.8|UMLS:C4014795|Orphanet:438159|OMIM:615952 owl:Class UBERON:0009523 biolink:NamedThing mesenchyme of handplate tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904950 biolink:NamedThing negative regulation of establishment of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. tmpte7i6ely_mondo_relaxed.owl downregulation of establishment of protein localisation|down-regulation of protein positioning|negative regulation of protein recruitment|down-regulation of establishment of protein localisation|inhibition of establishment of protein localisation|downregulation of establishment of protein localization|downregulation of protein recruitment|down-regulation of establishment of protein localization|downregulation of protein positioning|inhibition of establishment of protein localization|down regulation of establishment of protein localisation|inhibition of protein recruitment|negative regulation of protein positioning|inhibition of protein positioning|negative regulation of establishment of protein localisation|down regulation of establishment of protein localization|down regulation of protein positioning|down-regulation of protein recruitment|down regulation of protein recruitment owl:Class GO:0070201 biolink:NamedThing regulation of establishment of protein localization Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. tmpte7i6ely_mondo_relaxed.owl regulation of establishment of protein localisation owl:Class MONDO:0020387 biolink:NamedThing double outlet right ventricle with subpulmonary ventricular septal defect tmpte7i6ely_mondo_relaxed.owl Double outlet right ventricle with transposition of the great arteries|Taussig-Bing syndrome|DORV with subpulmonary VSD|DORV-TGA Orphanet:99045|ICD10:Q20.1|UMLS:CN207267|SCTID:448794008 owl:Class MONDO:0006853 biolink:NamedThing mesenchymal chondrosarcoma A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. tmpte7i6ely_mondo_relaxed.owl mesenchymal chondrosarcoma UMLS:C0206637|MedDRA:10027389|NCIT:C3737|ICDO:9240/3|DOID:4545|MESH:D018211|ONCOTREE:MCHS|EFO:1001041 owl:Class GO:2000216 biolink:NamedThing positive regulation of proline metabolic process Any process that activates or increases the frequency, rate or extent of proline metabolic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of proline metabolism owl:Class GO:2000214 biolink:NamedThing regulation of proline metabolic process Any process that modulates the frequency, rate or extent of proline metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of proline metabolism owl:Class MONDO:0024570 biolink:NamedThing hyperparathyroidism 4 Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism type 4|HRPT4|familial isolated hyperparathyroidism caused by mutation in GCM2|hyperparathyroidism 4|GCM2 familial isolated hyperparathyroidism Orphanet:99879|OMIM:617343|UMLS:C4479229|UMLS:CN240514 owl:Class MONDO:0015027 biolink:NamedThing familial isolated hyperparathyroidism A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. tmpte7i6ely_mondo_relaxed.owl FIHPT|familial isolated hyperparathyroidism|FIHP NCIT:C94830|Orphanet:99879|UMLS:CN207422|OMIM:617343|ICD10:E21.0|OMIM:145000|OMIM:610071 owl:Class MONDO:0012095 biolink:NamedThing intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. tmpte7i6ely_mondo_relaxed.owl ROBIN sequence with distinctive facial appearance and brachydactyly ICD10:Q87.0|Orphanet:364577|OMIM:608670|MESH:C563880|UMLS:C1837564 owl:Class MONDO:0029130 biolink:NamedThing polydactyly, postaxial, type A8 tmpte7i6ely_mondo_relaxed.owl PAPA8|polydactyly, postaxial, type A8 OMIM:618123 owl:Class ENVO:01001619 biolink:NamedThing snow and ice accumulation process A material accumulation process during which a accumulation of snow and ice forms or increases in mass. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007404 biolink:NamedThing Cri-du-chat syndrome Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl chromosome 5p- syndrome|chromosome 5p deletion syndrome|5p minus syndrome|Cri du chat syndrome|monosomy 5p|chromosome 5 short arm deletion syndrome|Cri-du-chat syndrome|chromosome 5P deletion syndrome|5p deletion syndrome|deletion 5p|5p- syndrome|5p partial monosomy syndrome|Cat Cry syndrome|Cat-Cry syndrome|monosomy type 5p NCIT:C34518|OMIM:123450|GARD:0006213|DOID:12580|MESH:D003410|UMLS:CN776901|SCTID:70173007|MedDRA:10011385|UMLS:C0010314|ICD10:Q93.4|ICD9:758.31|ICD9:758.39|Orphanet:281 owl:Class MONDO:0016887 biolink:NamedThing partial deletion of the short arm of chromosome 5 tmpte7i6ely_mondo_relaxed.owl partial monosomy of the short arm of chromosome 5|partial deletion of the short arm of chromosome type 5|partial deletion of chromosome 5p|partial monosomy of chromosome 5p UMLS:C0010314|ICD10:Q93.4|Orphanet:261893 owl:Class MONDO:0018633 biolink:NamedThing 20q11.2 microdeletion syndrome 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. tmpte7i6ely_mondo_relaxed.owl monosomy 20q11|Del(20)(q11.2) Orphanet:444051|UMLS:CN237681|ICD10:Q93.5 owl:Class GO:0051463 biolink:NamedThing negative regulation of cortisol secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. tmpte7i6ely_mondo_relaxed.owl down-regulation of cortisol secretion|down regulation of cortisol secretion|inhibition of cortisol secretion|downregulation of cortisol secretion owl:Class MONDO:0014767 biolink:NamedThing Seckel syndrome 9 Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. tmpte7i6ely_mondo_relaxed.owl TRAIP Seckel syndrome|Seckel syndrome 9|Seckel syndrome caused by mutation in TRAIP|SCKL9|Seckel syndrome type 9 DOID:0070005|UMLS:C4225212|OMIM:616777 owl:Class MONDO:0006278 biolink:NamedThing lung papilloma A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction. tmpte7i6ely_mondo_relaxed.owl papilloma of respiratory tract|papilloma of the respiratory tract|respiratory tract papilloma|lung papilloma EFO:1000335|UMLS:C0281373|NCIT:C8295 owl:Class UBERON:0001236 biolink:NamedThing adrenal medulla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003691 biolink:NamedThing childhood malignant mesenchymoma A malignant mesenchymoma occurring in children. tmpte7i6ely_mondo_relaxed.owl pediatric malignant mesenchymoma|childhood malignant mesenchymoma|malignant mesenchymoma|malignant mesenchymoma of childhood DOID:5893|UMLS:C0279991|NCIT:C8097 owl:Class UBERON:0012498 biolink:NamedThing serosa of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000042 biolink:NamedThing serous membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021184 biolink:NamedThing deltaretrovirus infections Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED). tmpte7i6ely_mondo_relaxed.owl HTLV BLV infections|HTLV-BLV infections|HTLV infections|Deltaretrovirus infection|infection, Deltaretrovirus|HTLV infection|HTLV-BLV infection|BLV infections|infections, Deltaretrovirus|BLV infection MESH:D006800 owl:Class MONDO:0006720 biolink:NamedThing cystic, mucinous, and serous neoplasm Neoplasms containing cyst-like formations or producing mucin or serum. tmpte7i6ely_mondo_relaxed.owl EFO:1000889|MESH:D018297 owl:Class MONDO:0009267 biolink:NamedThing Gaucher disease type III Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. tmpte7i6ely_mondo_relaxed.owl Gaucher disease type 3|Gaucher disease type III|cerebral juvenile and adult form of Gaucher disease|Gd 3|Gaucher's disease type III|Gaucher disease, Norrbottnian type|Gaucher disease, subacute neuronopathic type|Gaucher disease, type 3A|Gaucher disease, juvenile and adult, cerebral|Gaucher disease, chronic neuronopathic type|GD III|Gaucher disease, type 3|chronic neuronopathic Gaucher disease|Gaucher disease, type 3B|Gaucher disease, type III|Gaucher disease, Subacute neuronopathic type Orphanet:355|DOID:0110959|Orphanet:77261|ICD10:E75.2|OMIM:231000|SCTID:5963005|GARD:0002443 owl:Class MONDO:0018925 biolink:NamedThing familial or sporadic hemiplegic migraine Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). tmpte7i6ely_mondo_relaxed.owl hemiplegic migraine|familial or sporadic hemiplegic migraine ICD9:346.30|SCTID:59292006|ICD10:G43.1|OMIM:141500|OMIM:609634|GARD:0010768|Orphanet:569|OMIM:602481|OMIM:607516 https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine owl:Class MONDO:0002198 biolink:NamedThing vulvar glandular neoplasm A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl vulvar glandular tumor|vulvar glandular neoplasm|mammalian vulva glandular cell neoplasm DOID:2076|UMLS:C1520082|NCIT:C40292 owl:Class UBERON:0036225 biolink:NamedThing respiratory system gland tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00002202 biolink:NamedThing organically enriched sediment Chemically-enriched sediment which has increased levels of organic compounds. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00002114 biolink:NamedThing chemically enriched sediment Sediment which has increased levels of one or more chemical compounds. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32775 biolink:NamedThing D-tyrosinium An optically active form of tyrosinium having D-configuration. tmpte7i6ely_mondo_relaxed.owl D-tyrosine cation|D-tyrosinium|(1R)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium owl:Class CHEBI:32786 biolink:NamedThing tyrosinium An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group. tmpte7i6ely_mondo_relaxed.owl tyrosinium|1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosine cation owl:Class UBERON:0004929 biolink:NamedThing submucosa of ascending colon tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022824 biolink:NamedThing transmitter-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl ionotropic neurotransmitter receptor activity owl:Class GO:0022835 biolink:NamedThing transmitter-gated channel activity Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl neurotransmitter-gated channel activity|extracellular substance gated channel activity owl:Class MONDO:0018658 biolink:NamedThing 19p13.3 microduplication syndrome 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. tmpte7i6ely_mondo_relaxed.owl dup(19)(p13.13) OMIM:613638|UMLS:CN237720|ICD10:Q92.3|Orphanet:447980 owl:Class NCIT:C36745 biolink:NamedThing Abnormal Epithelial Cell tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C12913 biolink:NamedThing Abnormal Cell tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043235 biolink:NamedThing receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001510 biolink:NamedThing intrachromosomal A change in chromosomes that occurs between two separate chromosomes. tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001509 biolink:NamedThing chromosomal_variation_attribute An attribute of a change in the structure or number of a chromosomes. tmpte7i6ely_mondo_relaxed.owl chromosomal variation attribute owl:Class UBERON:0010167 biolink:NamedThing beard tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010165 biolink:NamedThing collection of hair on face tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009389 biolink:NamedThing hyperlysinemia due to defect in lysine transport into mitochondria tmpte7i6ely_mondo_relaxed.owl hyperlysinemia due to defect in lysine TRANSPORT into mitochondria Orphanet:2203|OMIM:238710|MESH:C565499|UMLS:C1855927 owl:Class MONDO:0009388 biolink:NamedThing hyperlysinemia Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. tmpte7i6ely_mondo_relaxed.owl hyperlysinemia (disease)|Alpha-aminoadipic semialdehyde synthase deficiency|hyperlysinemia, type I|hyperlysinemia, type 1|hyperlysinemia|lysine intolerance|hyperlysinemia type I|lysine:Alpha-ketoglutarate reductase deficiency|L-lysine:NAD-oxido-reductase deficiency|L-lysine NAD-oxido-reductase deficiency|lysine alpha-ketoglutarate reductase deficiency hyperlysinemia (disease) ICD10:E72.3|DOID:9274|OMIM:238700|Orphanet:2203|OMIM:238710|UMLS:C0268553|GARD:0002828|SCTID:58558003|HP:0002161|ICD9:270.7|NCIT:C123433 owl:Class MONDO:0001528 biolink:NamedThing vulva cancer A primary or metastatic malignant neoplasm involving the vulva. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of vulva unspecified|malignant neoplasm of mammalian vulva|vulval cancer|malignant vulvar neoplasm|malignant mammalian vulva neoplasm|malignant vulvar tumor|malignant neoplasm of vulva|Ca vulva|malignant vulva tumor|mammalian vulva cancer|vulval neoplasm|neoplasm of vulva|malignant tumor of the vulva|vulvar cancer|malignant neoplasm of the vulva|cancer of mammalian vulva|malignant tumor of vulva|malignant neoplasm of vulva, unspecified|malignant vulva neoplasm SCTID:126922007|NCIT:C7502|ICD10:C51.9|ICD9:184.4|SCTID:363367000|GARD:0009349|MESH:D014846|ICD10:C51|DOID:1245 owl:Class MONDO:0044995 biolink:NamedThing parasympathetic nervous system disorder A disease or disorder that involves the parasympathetic nervous system. tmpte7i6ely_mondo_relaxed.owl parasympathetic nervous system disease or disorder|disorder of parasympathetic nervous system|disease of parasympathetic nervous system|parasympathetic nervous system disease|disease or disorder of parasympathetic nervous system SCTID:46091002 owl:Class MONDO:0017573 biolink:NamedThing 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. tmpte7i6ely_mondo_relaxed.owl female pseudohermaphroditism-anorectal anomalies syndrome UMLS:CN203326|Orphanet:2973|ICD10:Q56.2 owl:Class MONDO:0015846 biolink:NamedThing syndromic uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with uterovaginal malformation|syndromic uterovaginal malformation UMLS:CN226751|Orphanet:180148 owl:Class GO:0042073 biolink:NamedThing intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. tmpte7i6ely_mondo_relaxed.owl intraflagellar transport involved in microtubule-based flagellum organisation|intraflagellar transport involved in cilium organization|intraflagellar transport|IFT owl:Class GO:0010970 biolink:NamedThing transport along microtubule The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. tmpte7i6ely_mondo_relaxed.owl establishment of localization by movement along microtubule|movement along microtubule|microtubule-based transport owl:Class MONDO:0021632 biolink:NamedThing primary brain neoplasm tmpte7i6ely_mondo_relaxed.owl primary brain tumor|primary brain neoplasm ONCOTREE:PBT|NCIT:C4952 owl:Class CHEBI:22506 biolink:NamedThing aminoglycan tmpte7i6ely_mondo_relaxed.owl aminoglycans owl:Class CHEBI:65212 biolink:NamedThing polysaccharide derivative A carbohydrate derivative that is any derivative of a polysaccharide. tmpte7i6ely_mondo_relaxed.owl polysaccharide derivatives owl:Class MONDO:0024352 biolink:NamedThing viral respiratory tract infection A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. tmpte7i6ely_mondo_relaxed.owl viral respiratory tract infection NCIT:C27219|SCTID:312133006|ICD9:519.8 owl:Class MONDO:0021639 biolink:NamedThing grade II glioma A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma. tmpte7i6ely_mondo_relaxed.owl grade II glioma|WHO grade II glioma UMLS:C4330050|NCIT:C132505 owl:Class MONDO:0021637 biolink:NamedThing low grade glioma A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma. tmpte7i6ely_mondo_relaxed.owl low-grade glioma|low grade glioma UMLS:C1997217|NCIT:C132067 owl:Class MONDO:0001317 biolink:NamedThing phlyctenulosis tmpte7i6ely_mondo_relaxed.owl Phlyctenular keratoconjunctivitis|strumous ophthalmia ICD9:370.31|UMLS:C0155080|DOID:11581|SCTID:67895005|ICD10:H16.25 owl:Class MONDO:0019561 biolink:NamedThing lupus erythematosus panniculitis A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. tmpte7i6ely_mondo_relaxed.owl lupus erythematosus profundus|lupus profundus|lupus panniculitis MESH:D015435|Orphanet:90285|NCIT:C82884|ICD10:L93.2|SCTID:15084002|UMLS:C0030327 owl:Class MONDO:0011157 biolink:NamedThing Gomez-Lopez-Hernandez syndrome Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. tmpte7i6ely_mondo_relaxed.owl Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|Cerebellotrigeminal-dermal dysplasia syndrome|craniosynostosis-alopecia-brain defect syndrome|GOMEZ-LOPEZ-HERNANDEZ syndrome|Gomez-Lopez-Hernández syndrome|Gomez Lopez Hernandez syndrome|Gómez-López-Hernández syndrome|GLHS|Cerebellotrigeminal-dermal dysplasia|Gomez-Lopez-Hernandez syndrome|Cerebellotrigeminal dermal dysplasia OMIM:601853|Orphanet:1532|GARD:0000229|ICD10:Q07.8|MESH:C537285|SCTID:722451006 https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome owl:Class MONDO:0014124 biolink:NamedThing Adams-Oliver syndrome 4 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene. tmpte7i6ely_mondo_relaxed.owl Adams-Oliver syndrome caused by mutation in EOGT|AOS4|Adams-Oliver syndrome type 4|Adams-Oliver syndrome 4|EOGT Adams-Oliver syndrome UMLS:C3809092|Orphanet:974|OMIM:615297 owl:Class HGNC:738 biolink:NamedThing ASCL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003940 biolink:NamedThing Kummell disease A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. tmpte7i6ely_mondo_relaxed.owl avascular necrosis of a vertebral body|Kummell disease|Kummell's spondylitis|bony vertebral centrum osteonecrosis|traumatic spondylopathy|osteonecrosis of bony vertebral centrum|Kummell's disease SCTID:111232005|ICD9:721.7|DOID:6603|UMLS:C0152088|ICD10:M48.3 owl:Class MONDO:0002189 biolink:NamedThing nodular hidradenoma A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. tmpte7i6ely_mondo_relaxed.owl eccrine nodular hidradenoma|nodular hidradenoma|solid and cystic hidradenoma ICDO:8402/0|NCIT:C7568|SCTID:253020008|DOID:2061 owl:Class MONDO:0002805 biolink:NamedThing hidradenoma A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma. tmpte7i6ely_mondo_relaxed.owl syringoadenoma|eccrine acrospiroma|acrospiroma|sweat gland adenoma|hidradenoma|hidradenoma of skin SCTID:253020008|DOID:3896|NCIT:C7560|NCIT:C7563 owl:Class MONDO:0021394 biolink:NamedThing polyp of vagina A polyp that involves the vagina. tmpte7i6ely_mondo_relaxed.owl vagina polyp|vaginal polyp|polyp, vaginal, benign|polyp of the vagina SCTID:29609001|UMLS:C0156390|NCIT:C3664|ICD10:N84.2|ICD9:623.7 owl:Class MONDO:0005179 biolink:NamedThing ovarian adenoma benign A benign adenoma of ovary tmpte7i6ely_mondo_relaxed.owl EFO:0002507 owl:Class HGNC:10802 biolink:NamedThing SFTPC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016241 biolink:NamedThing alternating hemiplegia of childhood A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. tmpte7i6ely_mondo_relaxed.owl alternating hemiplegia syndrome|childhood alternating hemiplegia|adrenal hypoplasia congenita|alternating hemiplegia|pediatric alternating hemiplegia|congenital adrenal Hypoplasia|congenital adrenal gland hypoplasia|AHC|alternating hemiplegia of childhood MESH:C536589|OMIMPS:104290|OMIM:614820|OMIM:104290|NCIT:C35261|UMLS:C0338488|GARD:0000011|Orphanet:2131|SCTID:230466004|ICD10:G98|DOID:0050635 owl:Class MONDO:0014214 biolink:NamedThing short-rib thoracic dysplasia 8 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. tmpte7i6ely_mondo_relaxed.owl short-rib thoracic dysplasia 8 with or without polydactyly|SRTD8|SRPS6|short rib-polydactyly syndrome, type 6|short rib-polydactyly syndrome type VI OMIM:615503|ICD10:Q77.2|DOID:0110094|UMLS:C3809691|Orphanet:93271 owl:Class PATO:0001776 biolink:NamedThing increased flexibility A flexibility which is relatively high. tmpte7i6ely_mondo_relaxed.owl high flexibility owl:Class MONDO:0015337 biolink:NamedThing isolated craniosynostosis A craniosynostosis that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic craniosynostosis Orphanet:139390|UMLS:C0010278|ICD10:Q75.0 owl:Class MONDO:0008207 biolink:NamedThing chondromalacia patellae Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission. tmpte7i6ely_mondo_relaxed.owl chondromalacia of patella|patella chondromalacia|familial chondromalacia patellae|chondromalacia patellae|patella, chondromalacia OF|softening of articular cartilage of patella Orphanet:1428|DOID:13357|OMIM:168900|UMLS:C0008475|ICD9:717.7|MESH:D046789|SCTID:36071006|ICD10:M22.4 owl:Class MONDO:0015512 biolink:NamedThing genetic hypertension An instance of hypertension that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic hypertension|genetic hypertensive disorder Orphanet:156629|UMLS:C0598428 owl:Class MONDO:0015632 biolink:NamedThing FASTKD2-related infantile mitochondrial encephalomyopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:166105|ICD10:G71.3 owl:Class MONDO:0008808 biolink:NamedThing aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl ACC with intestinal lymphangiectasia|aplasia cutis congenita intestinal lymphangiectasia|Bronspiegel-Zelnick syndrome|autosomal recessive aplasia cutis|aplasia cutis congenita with intestinal lymphangiectasia OMIM:207731|GARD:0000753|SCTID:720500008|Orphanet:1116|MESH:C537788 owl:Class MONDO:0019294 biolink:NamedThing mixed dermis disorder tmpte7i6ely_mondo_relaxed.owl Orphanet:79380|UMLS:CN227617 Editor note: check if genetic owl:Class MONDO:0006970 biolink:NamedThing sialolithiasis A concretion in the salivary gland. tmpte7i6ely_mondo_relaxed.owl sialolith|Stone of salivary gland or duct|salivary gland Stone DOID:12905|MedDRA:10040631|ICD9:527.5|MESH:D015494|EFO:1001180|NCIT:C34994|UMLS:C0036091|ICD10:K11.5|SCTID:28826002 owl:Class MONDO:0001618 biolink:NamedThing balanoposthitis tmpte7i6ely_mondo_relaxed.owl ICD9:607.1|ICD10:N47.6|UMLS:C0004691|SCTID:46090001|DOID:13031 owl:Class MONDO:0014827 biolink:NamedThing autosomal recessive spastic paraplegia type 76 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. tmpte7i6ely_mondo_relaxed.owl CAPN1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 76|hereditary spastic paraplegia type 76|SPG76|autosomal recessive complex spastic paraplegia caused by mutation in CAPN1|hereditary spastic paraplegia 76|spastic paraplegia 76, autosomal recessive UMLS:C4310800|OMIM:616907|EFO:0009019|Orphanet:488594|DOID:0110821 owl:Class MONDO:0013431 biolink:NamedThing Meier-Gorlin syndrome 4 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene. tmpte7i6ely_mondo_relaxed.owl Meier-GORLIN syndrome 4|MGORS4|CDT1 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 4|Meier-Gorlin syndrome caused by mutation in CDT1|Meier-Gorlin syndrome 4 UMLS:C3151120|Orphanet:2554|DOID:0080515|OMIM:613804 owl:Class MONDO:0003406 biolink:NamedThing sleep-wake disorder Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. tmpte7i6ely_mondo_relaxed.owl sleep disorders|sleeper syndromes, short|short sleeper syndrome|phenotypes, short sleep|disturbed nyctohemeral rhythm|circadian dysregulation|sleeper syndrome, short|sleeper syndrome, long|short sleep phenotypes|syndromes, short sleeper|phenotype, short sleep|disorder of sleep-wake cycle|sleeper syndromes, long|long sleeper syndrome|disorder of sleep-wake schedule|sleep-related neurogenic tachypnea|disorders, sleep|disorder, sleep wake|sleep phenotypes, short|syndrome, short sleeper|sleep disorder|neurogenic tachypnea, sleep-related|Tachypneas, sleep-related neurogenic|sleep-related neurogenic Tachypneas|syndromes, Subwakefullness|neurogenic Tachypneas, sleep-related|non-organic sleep disorder|syndrome, long sleeper|short sleeper syndromes|short sleep phenotype|disorders of the sleep-wake schedule|Subwakefullness syndrome|sleep wake disorder|syndromes, long sleeper|long sleeper syndromes|wake disorders, sleep|Subwakefullness syndromes|syndrome, Subwakefullness|disorders, sleep wake|disorder, sleep|wake disorder, sleep|tachypnea, sleep-related neurogenic|sleep related neurogenic tachypnea ICD9:307.4|ICD9:307.40|EFO:0008568|ICD9:307.49|MESH:D012893|DOID:535|ICD10:G47|SCTID:39898005 owl:Class MONDO:0016285 biolink:NamedThing papillary carcinoma of the cervix uteri A papillary carcinoma that involves the uterine cervix. tmpte7i6ely_mondo_relaxed.owl uterine cervix papillary carcinoma|cervical papillary carcinoma ICD10:C53.1|UMLS:CN201075|ICD10:C53.8|ICD10:C53.0|Orphanet:213817 owl:Class NCBITaxon:31953 biolink:NamedThing Bifidobacteriaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:19244447 ncbi_taxonomy owl:Class NCBITaxon:85004 biolink:NamedThing Bifidobacteriales tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:19244447|PMID:27446019 ncbi_taxonomy owl:Class HGNC:21528 biolink:NamedThing DIABLO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019351 biolink:NamedThing isolated spina bifida A spina bifida (disease) that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic spina bifida (disease)|isolated spina bifida (disease)|cleft spine|open spine ICD10:Q05.9|GARD:0007673|ICD10:Q05.8|OMIM:601634|Orphanet:823|MESH:D016135|OMIM:301410|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.1|MedDRA:10041524|ICD10:Q05.2|ICD10:Q05.4|ICD10:Q05.0|ICD10:Q05.5|OMIM:182940|ICD10:Q05.3 owl:Class MONDO:0015219 biolink:NamedThing non-syndromic central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated central nervous system malformation|nonsyndromic central nervous system malformation Orphanet:108989 Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58 owl:Class GO:0002762 biolink:NamedThing negative regulation of myeloid leukocyte differentiation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. tmpte7i6ely_mondo_relaxed.owl downregulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation|down-regulation of myeloid leukocyte differentiation owl:Class MONDO:0004303 biolink:NamedThing parathyroid gland clear cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. tmpte7i6ely_mondo_relaxed.owl parathyroid gland transitional clear cell adenoma|parathyroid clear cell adenoma|clear cell adenoma of parathyroid|transitional clear cell adenoma of parathyroid|transitional clear cell adenoma of parathyroid gland|clear cell adenoma of the parathyroid gland|clear cell adenoma of parathyroid gland|parathyroid gland clear cell adenoma|transitional clear cell adenoma of the parathyroid|parathyroid transitional clear cell adenoma|clear cell adenoma of the parathyroid|transitional clear cell adenoma of the parathyroid gland DOID:7609|NCIT:C7993|UMLS:C0279700 owl:Class MONDO:0003426 biolink:NamedThing clear cell adenoma A benign neoplasm composed of glands containing epithelial clear cells. tmpte7i6ely_mondo_relaxed.owl clear cell adenoma|clear cell adenoma (morphologic abnormality)|adenoma, clear cell, benign DOID:5390|UMLS:C0334315|ICDO:8310/0|NCIT:C4151 owl:Class HGNC:3642 biolink:NamedThing FDXR tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031300 biolink:NamedThing intrinsic component of organelle membrane The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to organelle membrane owl:Class MONDO:0004494 biolink:NamedThing testicular yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. tmpte7i6ely_mondo_relaxed.owl testicular yolk sac tumor, hepatoid pattern|hepatoid pattern testicular yolk sac tumor NCIT:C39931|DOID:8195|UMLS:C1515306 owl:Class MONDO:0018172 biolink:NamedThing malignant sex cord stromal tumor of ovary Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. tmpte7i6ely_mondo_relaxed.owl malignant Sex cord-stromal tumor of the ovary|malignant ovarian SCST|malignant ovarian sex cord-stromal tumor|ovarian sex cord-stromal tumor, malignant|malignant ovarian Sex cord-stromal neoplasm|malignant ovarian Sex cord-stromal tumor|malignant Sex cord-stromal tumor of ovary UMLS:CN204631|UMLS:C1334609|NCIT:C8053|Orphanet:35808|ICD10:C56 owl:Class MONDO:0018365 biolink:NamedThing malignant non-epithelial tumor of ovary tmpte7i6ely_mondo_relaxed.owl ovarian non-epithelial cancer|ovarian malignant non-epithelial tumor|non-epithelial cancer of ovary UMLS:CN205032|Orphanet:398940 Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma owl:Class MONDO:0020659 biolink:NamedThing upper tract urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl UTUC|transitional cell carcinoma of the pelvis and ureter|transitional cell carcinoma of the upper urinary tract Orphanet:598216|ONCOTREE:UTUC owl:Class MONDO:0020654 biolink:NamedThing renal pelvis/ureter urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. tmpte7i6ely_mondo_relaxed.owl renal pelvis and ureter urothelial carcinoma|TCC of renal pelvis and ureter|TCC of the renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|urothelial carcinoma of the renal pelvis and ureter|renal pelvis and ureter transitional cell cancer|renal pelvis and ureter TCC|transitional cell cancer of the renal pelvis and ureter|transitional cell cancer of renal pelvis and ureter|transitional cell carcinoma of renal pelvis and ureter NCIT:C7716 owl:Class HGNC:11429 biolink:NamedThing STX11 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000821 biolink:NamedThing B-1b B cell A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell. tmpte7i6ely_mondo_relaxed.owl B1b B lymphocyte|B1b B-lymphocyte|B-1b B lymphocyte|B1b B-cell|B-1b B-lymphocyte|B1b cell|B-1b B-cell|B1b B cell cell owl:Class NCBITaxon:41011 biolink:NamedThing Tineoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:98969 ncbi_taxonomy owl:Class NCBITaxon:37567 biolink:NamedThing Ditrysia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012977 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 1B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 1B|autosomal recessive deafness 1B|deafness, autosomal recessive 1B|autosomal recessive nonsyndromic deafness type 1B|DFNB1B|autosomal recessive nonsyndromic deafness caused by mutation in GJB6|Autosomal recessive deafness type 1B|autosomal recessive nonsyndromic deafness 1B|GJB6 autosomal recessive nonsyndromic deafness ICD10:H90.3|GTR:AN1075764|MESH:C567213|OMIM:612645|UMLS:C2675235|DOID:0110476|UMLS:CN674504 owl:Class UBERON:0009973 biolink:NamedThing ureterovesical junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003978 biolink:NamedThing valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006192 biolink:NamedThing endometrial endometrioid adenocarcinoma A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl uterine corpus endometrioid adenocarcinoma|uterine corpus endometrioid carcinoma|endometrioid carcinoma of the endometrium|endometrioid endomet. adenocar.|endometrioid endometrial adenocarcinoma|endometrioid carcinoma of endometrium|endometrioid adenocarcinoma of the endometrium|endometrial endometrioid adenocarcinoma|uterine endometrioid carcinoma|endometrioid adenocarcinoma of endometrium NCIT:C6287|UMLS:C1336905|ONCOTREE:UEC|EFO:1000233 owl:Class MONDO:0010860 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3|autosomal recessive nonsyndromic deafness type 3|deafness, autosomal recessive 3|NRSD3|deafness, autosomal recessive type 3|autosomal recessive nonsyndromic deafness 3|neurosensory nonsyndromic recessive deafness 3|DFNB3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|MYO15A autosomal recessive nonsyndromic deafness OMIM:600316|DOID:0110488|UMLS:C1838263|ICD10:H90.3|MESH:C563961 owl:Class MONDO:0006557 biolink:NamedThing hemangioma of subcutaneous tissue A hemangioma arising from the subcutaneous soft tissues. tmpte7i6ely_mondo_relaxed.owl superficial fascia hemangioma|hemangioma of superficial fascia|subcutaneous haemangioma|subcutaneous tissue angioma|hemangioma of subcutaneous tissue|hemangioma of the subcutaneous tissue|subcutaneous angioma|angioma of the subcutaneous tissue|angioma of subcutaneous tissue|subcutaneous hemangioma|subcutaneous tissue hemangioma UMLS:C0685200|SCTID:93473009|NCIT:C8540|DOID:13081|EFO:1000707 owl:Class MONDO:0002424 biolink:NamedThing rectosigmoid carcinoma A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. tmpte7i6ely_mondo_relaxed.owl carcinoma of rectosigmoid junction|rectosigmoid cancer|rectosigmoid carcinoma|rectosigmoid junction carcinoma DOID:2781|NCIT:C7421|UMLS:C1327709 owl:Class MONDO:0024500 biolink:NamedThing duodenal neuroendocrine neoplasm A neuroendocrine neoplasm that involves the duodenum. tmpte7i6ely_mondo_relaxed.owl duodenum neuroendocrine neoplasm|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|duodenum neuroendocrine tumor|neuroendocrine neoplasm of duodenum|duodenum NET owl:Class MONDO:0018510 biolink:NamedThing small intestine neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|small intestine neuroendocrine neoplasm|NET of the small intestine|neuroendocrine tumor of the small intestine|neuroendocrine neoplasm of small intestine|neuroendocrine neoplasm of the small intestine|small intestine neuroendocrine tumor|small intestinal neuroendocrine neoplasm|small intestine NET|neuroendocrine tumor of small bowel Orphanet:423975|DOID:4434|NCIT:C5803|UMLS:CN237515|UMLS:C1336005 owl:Class MONDO:0032636 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 33 tmpte7i6ely_mondo_relaxed.owl MC1DN33|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 OMIM:618253 owl:Class GO:0010948 biolink:NamedThing negative regulation of cell cycle process Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0600027 biolink:NamedThing congenital right-sided heart lesions Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth. tmpte7i6ely_mondo_relaxed.owl EFO:0600032 http://orcid.org/0000-0002-5460-8025 owl:Class HGNC:11935 biolink:NamedThing CD40LG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010573 biolink:NamedThing cutis verticis gyrata, thyroid aplasia, and intellectual disability tmpte7i6ely_mondo_relaxed.owl cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation|Akesson syndrome|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|cutis verticis gyrata, thyroid aplasia, and intellectual disability GARD:0000578|Orphanet:79482|UMLS:CN237776|MESH:C535610|OMIM:304200 owl:Class UBERON:0003470 biolink:NamedThing artery of upper lip tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097237 biolink:NamedThing cellular response to toxic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009636 biolink:NamedThing response to toxic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpte7i6ely_mondo_relaxed.owl toxin susceptibility/resistance|detoxification response|toxin resistance owl:Class MONDO:0021049 biolink:NamedThing vulvar neoplasm A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. tmpte7i6ely_mondo_relaxed.owl tumor of vulva|mammalian vulva neoplasm (disease)|tumor of the vulva|vulvar tumor|vulva neoplasm|tumor of mammalian vulva|mammalian vulva neoplasm|neoplasm of the vulva|neoplasm of mammalian vulva|vulva tumor|mammalian vulva tumor|vulval neoplasm|vulvar neoplasm|neoplasm of vulva NCIT:C3443|SCTID:126922007|ICD9:239.5 owl:Class CHEBI:47909 biolink:NamedThing 3-oxo-Delta(4) steroid A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. tmpte7i6ely_mondo_relaxed.owl 3-Oxo-delta4-steroid|3-oxo Delta(4)-steroid|3-oxo-Delta(4) steroids|3-oxo Delta(4)-steroids|a 3-oxo-Delta(4)-steroid owl:Class MONDO:0014192 biolink:NamedThing primary ciliary dyskinesia 22 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia type 22|ciliary dyskinesia, primary, 22, with or without situs inversus|CILD22|primary ciliary dyskinesia 22 with or without situs inversus|ciliary dyskinesia, primary, type 22|ZMYND10 primary ciliary dyskinesia|ciliary dyskinesia, primary, 22|primary ciliary dyskinesia caused by mutation in ZMYND10 OMIM:615444|DOID:0110597|UMLS:C3809543|ICD10:Q34.8 owl:Class MONDO:0019164 biolink:NamedThing 6q terminal deletion syndrome 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. tmpte7i6ely_mondo_relaxed.owl ICD10:Q93.5|UMLS:C4304514|SCTID:719666002|UMLS:CN205719|Orphanet:75857 owl:Class MONDO:0022461 biolink:NamedThing anophthalmia cleft palate micrognathia A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes. tmpte7i6ely_mondo_relaxed.owl GARD:0000715 https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia owl:Class MONDO:0016822 biolink:NamedThing myalgia-eosinophilia syndrome associated with tryptophan A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. tmpte7i6ely_mondo_relaxed.owl ICD10:M35.8|MedDRA:10014952|Orphanet:2582 owl:Class MONDO:0018332 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, severe neonatal type tmpte7i6ely_mondo_relaxed.owl glutaric aciduria type 2, severe neonatal type|MAD deficiency, severe neonatal type|MADD, severe neonatal type ICD10:E71.3|UMLS:CN205004|Orphanet:394529 owl:Class GO:0048771 biolink:NamedThing tissue remodeling The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23018 biolink:NamedThing EC 4.2.1.1 (carbonic anhydrase) inhibitor An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule. tmpte7i6ely_mondo_relaxed.owl carbonate hydro-lyase inhibitors|carbonic anhydrase A inhibitor|carbonate hydro-lyase (carbon-dioxide-forming) inhibitor|carboxyanhydrase inhibitor|carboxyanhydrase inhibitors|EC 4.2.1.1 inhibitor|carbonic anhydrase inhibitors|carbonate dehydratase inhibitor|carbonate anhydrase inhibitor|carbonate dehydratase inhibitors|carbonic acid anhydrase inhibitors|anhydrase inhibitors|carbonate hydro-lyase (carbon-dioxide-forming) inhibitors|carbonate anhydrase inhibitors|carbonic anhydrase inhibitor|carbonic anhydrase A inhibitors|carbonate hydro-lyase inhibitor|anhydrase inhibitor|carbonic acid anhydrase inhibitor|EC 4.2.1.1 (carbonic anhydrase) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitor|EC 4.2.1.1 inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitors owl:Class CHEBI:76907 biolink:NamedThing EC 4.2.1.* (hydro-lyases) inhibitor An EC 4.2.* (C-O lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*). tmpte7i6ely_mondo_relaxed.owl EC 4.2.1.* (hydro-lyase) inhibitors|EC 4.2.1.* inhibitor|EC 4.2.1.* inhibitors|EC 4.2.1.* (hydro-lyases) inhibitors|hydro-lyase (EC 4.2.1.*) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitor|hydro-lyase (EC 4.2.1.*) inhibitor owl:Class HP:0001743 biolink:NamedThing Abnormality of the spleen An abnormality of the spleen. tmpte7i6ely_mondo_relaxed.owl Abnormality of the spleen UMLS:C4025749 The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. human_phenotype owl:Class MONDO:0002576 biolink:NamedThing embryonal extrahepatic bile duct rhabdomyosarcoma An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct embryonal rhabdomyosarcoma (disease)|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct|embryonal rhabdomyosarcoma of extrahepatic bile duct|embryonal rhabdomyosarcoma of the extrahepatic bile duct|embryonal extrahepatic bile duct rhabdomyosarcoma|extrahepatic bile duct embryonal rhabdomyosarcoma DOID:3253|UMLS:C1333505|NCIT:C5847 owl:Class MONDO:0002577 biolink:NamedThing extrahepatic bile duct rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma (disease) of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the bile duct|rhabdomyosarcoma of the extrahepatic bile duct|bile duct rhabdomyosarcoma DOID:3254|NCIT:C5860|UMLS:C2064434 owl:Class MONDO:0000307 biolink:NamedThing parasitic Ichthyosporea infectious disease A disease caused by infection with Ichthyosporea. tmpte7i6ely_mondo_relaxed.owl Ichthyosporea caused disease or disorder|Ichthyosporea disease or disorder|Ichthyosporea infectious disease DOID:0050291 owl:Class MONDO:0013476 biolink:NamedThing hypertrophic cardiomyopathy 19 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy type 19|cardiomyopathy, familial hypertrophic, 19|CMH19|hypertrophic cardiomyopathy caused by mutation in CALR3|cardiomyopathy, familial hypertrophic, type 19|cardiomyopathy familial hypertrophic 19|CALR3 hypertrophic cardiomyopathy DOID:0110325|OMIM:613875|UMLS:C3151266 owl:Class MONDO:0032619 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 14 tmpte7i6ely_mondo_relaxed.owl MC1DN14|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 OMIM:618236 owl:Class UBERON:0003608 biolink:NamedThing hindlimb long bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003464 biolink:NamedThing hindlimb bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000956 biolink:NamedThing cerebral cortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014373 biolink:NamedThing nephrotic syndrome, type 10 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. tmpte7i6ely_mondo_relaxed.owl NPHS10|nephrotic syndrome caused by mutation in EMP2|nephrotic syndrome, type 10|EMP2 nephrotic syndrome OMIM:615861|Orphanet:69061|DOID:0080386|UMLS:C4014507|Orphanet:656 owl:Class MONDO:0006235 biolink:NamedThing granular cell tumor An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast. tmpte7i6ely_mondo_relaxed.owl Abrikosov’s tumor|granular cell neoplasm|neoplasm of granular cell|Abrikossoff tumor|Abrikosoff's granulous cell tumor|granular cell tumor NOS (morphologic abnormality)|granular cell nerve sheath tumor|Abrikossoff's tumor|granular cell schwannoma|GCT|malignant variant of Abrikosov's tumor|granular cell myoblastoma|Abrikosov's tumor|granular cell tumor|giant granulocellular Abrikosov's tumor|granular cell tumor (morphologic abnormality)|Abrikosoff's tumor SCTID:404035005|EFO:1000284|MESH:C535558|DOID:2411|ICDO:9580/0|UMLS:C0085167|GARD:0009618|NCIT:C3474|ICD9:215.9|MESH:D016586|ONCOTREE:GCT Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor owl:Class MONDO:0017496 biolink:NamedThing congenital absence of thigh and lower leg with foot present, unilateral tmpte7i6ely_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia, unilateral Orphanet:295089|ICD10:Q72.1 owl:Class MONDO:0015013 biolink:NamedThing retinitis pigmentosa 77 Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 77|retinitis pigmentosa caused by mutation in REEP6|RP77|REEP6 retinitis pigmentosa|retinitis pigmentosa 77 UMLS:C4310626|DOID:0080350|OMIM:617304|ICD10CM:H35.5 owl:Class NCBITaxon:62324 biolink:NamedThing Anopheles funestus tmpte7i6ely_mondo_relaxed.owl African malaria mosquito GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:59142 biolink:NamedThing funestus group tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012671 biolink:NamedThing tremor, hereditary essential, 3 tmpte7i6ely_mondo_relaxed.owl tremor, hereditary essential, 3|ETM3 MESH:C566949|DOID:0111430|UMLS:C1969617|OMIM:611456 owl:Class MONDO:0019911 biolink:NamedThing maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy of chromosome type 4|UPD(4)mat SCTID:766238001|Orphanet:96180|ICD10:Q99.8 owl:Class UBERON:0002288 biolink:NamedThing choroid plexus of third ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:330 biolink:NamedThing AGRP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031330 biolink:NamedThing negative regulation of cellular catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular breakdown|down-regulation of cellular catabolic process|inhibition of cellular catabolic process|negative regulation of cellular catabolism|negative regulation of cellular degradation|down regulation of cellular catabolic process|downregulation of cellular catabolic process owl:Class HGNC:6971 biolink:NamedThing MDH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017407 biolink:NamedThing deficiency in anterior pituitary function - variable immunodeficiency syndrome tmpte7i6ely_mondo_relaxed.owl David syndrome OMIM:615577|Orphanet:293978 owl:Class MONDO:0018762 biolink:NamedThing non-acquired combined pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. tmpte7i6ely_mondo_relaxed.owl congenital combined pituitary hormone deficiency|congenital hypopituitarism Orphanet:467|ICD10:E23.0 owl:Class GO:0016595 biolink:NamedThing glutamate binding Binding to glutamate, the anion of 2-aminopentanedioic acid. tmpte7i6ely_mondo_relaxed.owl glutamic acid binding owl:Class CL:2000005 biolink:NamedThing brain macroglial cell Any macroglial cell that is part of a brain. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-03-28T21:35:27Z cell owl:Class CL:0000126 biolink:NamedThing macroglial cell A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. tmpte7i6ely_mondo_relaxed.owl macrogliocyte BTO:0000771|CALOHA:TS-2027|FMA:54538 cell owl:Class MONDO:0009812 biolink:NamedThing osteomalacia, sclerosing, with cerebral calcification tmpte7i6ely_mondo_relaxed.owl osteomalacia, sclerosing, with cerebral calcification MESH:C564916|OMIM:259660|UMLS:C1850141 owl:Class HGNC:8086 biolink:NamedThing OAS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009919 biolink:NamedThing peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. tmpte7i6ely_mondo_relaxed.owl Pseudoadrenoleukodystrophy|peroxisomal acyl-CoA oxidase deficiency|pseudo-neonatal adrenoleukodystrophy|pseudo-NALD|straight-chain acyl-Coa oxidase deficiency|ACOX1 deficiency|peroxisomal acyl-coenzyme A oxidase|Pseudoneonatal adrenoleukodystrophy MESH:C536662|ICD9:255.41|UMLS:C1849678|SCTID:238069004|ICD10:E71.3|DOID:0050797|GARD:0004543|Orphanet:2971|OMIM:264470 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0029136 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 23 tmpte7i6ely_mondo_relaxed.owl laminin subunit alpha 2-related limb-girdle muscular dystrophy R23|LGMDR23|muscular dystrophy, limb-girdle, autosomal recessive 23 Orphanet:565837|OMIM:618138 owl:Class UBERON:0004516 biolink:NamedThing smooth muscle tissue of terminal bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005527 biolink:NamedThing toxic encephalopathy A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives. tmpte7i6ely_mondo_relaxed.owl neurotoxicity syndromes|neurotoxicity syndrome|neurotoxicity DOID:3602|SCTID:28394000|Wikipedia:Toxic_encephalopathy|EFO:0005595|MESH:D020258|ICD9:349.82|NCIT:C27961|ICD10:G92|GARD:0007199 owl:Class MONDO:0016367 biolink:NamedThing dermatomyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. tmpte7i6ely_mondo_relaxed.owl polymyositis with skin involvement|DM|adult dermatomyositis|dermatopolymyositis|dermatomyositis|Amyopathic dermatomyositis SCTID:396230008|MedDRA:10012503|UMLS:C0011633|ICD10:M33.0|EFO:0000398|ICD9:710.3|MESH:D003882|GARD:0006263|ICD10:M33.1|ICD10:M33|ICD10:M33.9|DOID:10223|Orphanet:221|ICD10:M33.90|NCIT:C26744 owl:Class MONDO:0017525 biolink:NamedThing polydactyly of a triphalangeal thumb, unilateral tmpte7i6ely_mondo_relaxed.owl unilateral PPD2|preaxial polydactyly type 2, unilateral ICD10:Q69.1|UMLS:CN203256|Orphanet:295148 owl:Class MONDO:0008270 biolink:NamedThing polydactyly of a triphalangeal thumb Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. tmpte7i6ely_mondo_relaxed.owl triphalangeal thumb-polydactyly syndrome|polydactyly of triphalangeal thumb|triphalangeal thumb|PPD2|polydactyly, preaxial 2|polydactyly, preaxial type 2|triphalangeal thumb-polysyndactyly syndrome|preaxial polydactyly type 2|TPT-PS syndrome|polydactyly, preaxial II|triphalangeal thumb with polysyndactyly Orphanet:93336|ICD10:Q69.1|SCTID:715710001|GARD:0005289|Orphanet:2950|OMIM:174500|UMLS:C1868114 owl:Class MONDO:0041114 biolink:NamedThing peripheral ischemia Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries. tmpte7i6ely_mondo_relaxed.owl peripheral ischemic vascular disease|peripheral ischemia SCTID:233958001 owl:Class UBERON:0001091 biolink:NamedThing calcareous tooth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012292 biolink:NamedThing hepatitis C virus, susceptibility to tmpte7i6ely_mondo_relaxed.owl Hepatitis C Virus, resistance to|hepatitis C virus, susceptibility to|Hepatitis C Virus infection, response to therapy of|HCV, resistance to|HCV, susceptibility to OMIM:609532|UMLS:C2750389 owl:Class MONDO:0044200 biolink:NamedThing T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. tmpte7i6ely_mondo_relaxed.owl T-cell negative B-cell positive SCID|T-B+ SCID Orphanet:317416|ICD10:D81.2 Editor note: add logical definition owl:Class MONDO:0015729 biolink:NamedThing mosaic trisomy 16 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy chromosome 16|trisomy 16 mosaicism|Mosaic trisomy type 16 ICD10:Q92.1|SCTID:764621006|Orphanet:1708|MESH:C538041 owl:Class UBERON:0000016 biolink:NamedThing endocrine pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000471 biolink:NamedThing compound organ component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016491 biolink:NamedThing vertebral centrum element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007604 biolink:NamedThing femoral-facial syndrome Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. tmpte7i6ely_mondo_relaxed.owl FHUFS|femoral facial syndrome|femoral hypoplasia unusual facies syndrome|femoral hypoplasia-unusual facies syndrome|femoral-facial syndrome|femoral dysgenesis, bilateral|FFS MESH:C537916|SCTID:13280000|ICD10:Q87.8|OMIM:134780|Orphanet:1988|GARD:0000061|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome owl:Class MONDO:0010711 biolink:NamedThing TARP syndrome A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. tmpte7i6ely_mondo_relaxed.owl Pierre Robin sequence - congenital heart defect - talipes|Pierre Robin syndrome - congenital heart defect - talipes|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|Pierre Robin syndrome with congenital heart malformation and clubfoot|Pierre Robin syndrome-congenital heart defect-talipes syndrome|tarp syndrome|Pierre Robin sequence-congenital heart defect-talipes syndrome|TARPS|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava ICD10:Q87.8|MESH:C536942|Orphanet:2886|SCTID:725911008|UMLS:C1839463|DOID:0111780|OMIM:311900|GARD:0010089 https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome owl:Class MONDO:0018229 biolink:NamedThing Stevens-Johnson syndrome Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. tmpte7i6ely_mondo_relaxed.owl toxic Epidermal necrolysis, susceptibility to|Stevens Johnson syndrome|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|Dermatostomatitis, Stevens Johnson type|severe cutaneous adverse reaction, susceptibility to|Stevens-Johnson syndrome, susceptibility to|erythema multiforme Major ICD9:695.12|GARD:0007700|SCTID:23067006|NCIT:C79484|ICD9:695.15|EFO:0004276|MESH:D013262|DOID:0050426|UMLS:C0038325|MedDRA:10042033|UMLS:C0014518|OMIM:608579|ICD10:L51.2|ICD10:L51.1|SCTID:73442001|ICD9:695.13|Orphanet:36426|NCIT:C79777 owl:Class CHEBI:50860 biolink:NamedThing organic molecular entity Any molecular entity that contains carbon. tmpte7i6ely_mondo_relaxed.owl organic entity|organic molecular entities|organic compounds owl:Class CHEBI:33582 biolink:NamedThing carbon group molecular entity tmpte7i6ely_mondo_relaxed.owl carbon group molecular entity|carbon group molecular entities owl:Class MONDO:0005997 biolink:NamedThing tricuspid valve stenosis Narrowing or stricture of the tricuspid orifice of the heart. tmpte7i6ely_mondo_relaxed.owl tricuspid stenosis NCIT:C50783|MESH:D014264|SCTID:49915006|UMLS:C0040963|EFO:0007525|DOID:4078|HP:0010446 owl:Class MONDO:0011752 biolink:NamedThing nephronophthisis 4 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis (disease) caused by mutation in NPHP4|NPHP4 nephronophthisis (disease)|nephronophthisis 4, juvenile|nephronophthisis type 4|NPHP4|nephronophthisis 4|juvenile nephronophthisis 4 UMLS:C1847013|MESH:C564640|OMIM:606966|UMLS:C2959367|DOID:0111115|SCTID:446989009|Orphanet:655 owl:Class MONDO:0011316 biolink:NamedThing osteosclerotic chondrodysplasia, lethal, with intracellular inclusions tmpte7i6ely_mondo_relaxed.owl osteosclerotic chondrodysplasia, lethal, with intracellular inclusions MESH:C566378|UMLS:C1863920|OMIM:603393 owl:Class MONDO:0011847 biolink:NamedThing migraine without aura, susceptibility to, 4 An inherited susceptibility or predisposition to developing migraines without aura. tmpte7i6ely_mondo_relaxed.owl common migraine|MGR4|migraine without aura, susceptibility to, type 4|MGOA|migraine without aura, susceptibility to, 4 ICD9:346.1|ICD10:G43.009|OMIM:607501|HP:0002083|ICD10:G43.0 https://github.com/monarch-initiative/mondo/issues/3984 owl:Class MONDO:0100246 biolink:NamedThing migraine with or without aura, susceptibility to An inherited susceptibility or predisposition to developing migraines with or without aura. tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to|migraine with or without aura, susceptibility OMIM:157300|OMIMPS:157300|OMIM:613656 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0025155 biolink:NamedThing hemorrhagic syndrome, bovine Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality. tmpte7i6ely_mondo_relaxed.owl bovine hemorrhagic syndrome MESH:D030243|UMLS:C0950112 owl:Class MONDO:0005909 biolink:NamedThing pestivirus infectious disease Infections with viruses of the genus pestivirus, family flaviviridae. tmpte7i6ely_mondo_relaxed.owl infection, Pestivirus|Pestivirus disease or disorder|infections, Pestivirus|Pestivirus caused disease or disorder|Pestivirus infection|Pestivirus infectious disease EFO:0007432|UMLS:C0206611|MESH:D018182 owl:Class UBERON:0011777 biolink:NamedThing nucleus of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010339 biolink:NamedThing X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). tmpte7i6ely_mondo_relaxed.owl X-linked epilepsy-learning disabilities-behavior disorders syndrome|epilepsy, X-linked, with variable learning disabilities and behavior disorders ICD10:Q87.8|Orphanet:85294|OMIM:300491|MESH:C564505|UMLS:C1845343 owl:Class HGNC:10998 biolink:NamedThing SLC27A4 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q22.1 biolink:NamedThing 8q22.1 (Human) tmpte7i6ely_mondo_relaxed.owl 97900000 92300000 hg38 owl:Class MONDO:0007485 biolink:NamedThing dyskeratosis congenita, autosomal dominant 1 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. tmpte7i6ely_mondo_relaxed.owl dyskeratosis congenita Scoggins type|DKCA|dyskeratosis congenita, autosomal dominant 1|dyskeratosis congenita, Scoggins type|dyskeratosis congenita autosomal dominant|autosomal dominant dyskeratosis congenita 1|dyskeratosis congenita, autosomal dominant type 1|autosomal dominant dyskeratosis congenita|DKCA1 SCTID:707273001|MESH:C565079|OMIM:127550|GARD:0006299|Orphanet:1775|DOID:0070014 https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant owl:Class MONDO:0004584 biolink:NamedThing maple bark strippers' lung tmpte7i6ely_mondo_relaxed.owl maple bark stripper's lung|maple bark stripper's disease|maple bark-strippers' lung|maple-bark strippers' lung|maple bark disease|alveolitis due to cryptostroma corticale ICD9:495.6|UMLS:C0155890|ICD10:J67.6|SCTID:86638007|DOID:8484 owl:Class CHEBI:58953 biolink:NamedThing saturated fatty acid anion Any fatty acid anion in which there is no C-C unsaturation. tmpte7i6ely_mondo_relaxed.owl saturated fatty acid anions owl:Class GO:0046325 biolink:NamedThing negative regulation of glucose import Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpte7i6ely_mondo_relaxed.owl down-regulation of glucose import|inhibition of glucose import|negative regulation of glucose uptake|downregulation of glucose import|down regulation of glucose import owl:Class NCBITaxon:12967 biolink:NamedThing Blastocystis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2547934 biolink:NamedThing Blastocystidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003920 biolink:NamedThing venous blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012830 biolink:NamedThing chromosome 10q23 deletion syndrome 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. tmpte7i6ely_mondo_relaxed.owl Del(10)(q22.3q23.3)|juvenile polyposis, infantile|monosomy 10q22.3q23.3|deletion 10q22.3q23.3|10q22.3q23 microdeletion syndrome|chromosome 10q22.3-q23.2 deletion syndrome|10q22.3q23.3 microdeletion syndrome|chromosome 10Q22.3-q23.2 deletion syndrome|chromosome 10q23 deletion syndrome|juvenile polyposis of infancy OMIM:612242|DOID:0060389|ICD10:Q93.5|UMLS:CN202618|Orphanet:276413|GARD:0013018|Orphanet:79076|Orphanet:2929|UMLS:C2677102|MESH:C567385 owl:Class GO:0043558 biolink:NamedThing regulation of translational initiation in response to stress Any process that modulates the frequency, rate or extent of translation initiation, as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl regulation of translation initiation in response to stress owl:Class MONDO:0013830 biolink:NamedThing keratoconus 5 tmpte7i6ely_mondo_relaxed.owl KTCN5|keratoconus 5 OMIM:614622|UMLS:C3553302 owl:Class HGNC:3587 biolink:NamedThing FANCF tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19414 biolink:NamedThing DPY19L2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045202 biolink:NamedThing synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. tmpte7i6ely_mondo_relaxed.owl synaptic junction|mixed synapse|electrotonic synapse owl:Class GO:0030054 biolink:NamedThing cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013787 biolink:NamedThing psychomotor retardation, epilepsy, and craniofacial dysmorphism tmpte7i6ely_mondo_relaxed.owl PMRED|psychomotor retardation, epilepsy, and craniofacial dysmorphism UMLS:C3281055|OMIM:614501 owl:Class GO:0042068 biolink:NamedThing regulation of pteridine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpte7i6ely_mondo_relaxed.owl regulation of pteridine metabolism owl:Class PATO:0001412 biolink:NamedThing unstructured A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006584 biolink:NamedThing neonatal jaundice Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. tmpte7i6ely_mondo_relaxed.owl neonatal hyperbilirubinemia|neonatal icterus 2022-05-01 NCIT:C99246|UMLS:C0022353|DOID:2383|MESH:D007567|ICD9:774.5|EFO:1000739|ICD9:774.6|SCTID:387712008|ICD10:P59.9 Reason: is a phenotype and not a disease. Term to consider: neonatal jaundice due to ABO incompatibility MONDO:0700040 owl:Class MONDO:0008335 biolink:NamedThing short stature-craniofacial anomalies-genital hypoplasia syndrome Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. tmpte7i6ely_mondo_relaxed.owl pterygia, intellectual disability and distinctive craniofacial features|pterygia, intellectual disability, and distinctive craniofacial features|pterygia, mental retardation, and distinctive craniofacial features|pterygia intellectual disability facial dysmorphism|pterygia mental retardation facial dysmorphism|Haspeslagh-Fryns-Muelenaere syndrome|pterygia, mental retardation and distinctive craniofacial features|Haspeslagh syndrome UMLS:C1867443|ICD10:Q87.8|GARD:0002605|Orphanet:2994|OMIM:177980|SCTID:716090004|MESH:C535844 owl:Class MONDO:0012901 biolink:NamedThing inherited prekallikrein deficiency An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl Fletcher Factor deficiency|prekallikrein deficiency|prekallikrein deficiency, congenital|PKK deficiency|congenital prekallikrein deficiency|hereditary prekallikrein deficiency ICD9:286.9|ICD10:D68.8|OMIM:612423|Orphanet:749|GARD:0004477|MESH:C562725 https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital owl:Class GO:0031646 biolink:NamedThing positive regulation of nervous system process Any process that activates or increases the frequency, rate or extent of a neurophysiological process. tmpte7i6ely_mondo_relaxed.owl positive regulation of neurological process|positive regulation of neurophysiological process|up regulation of neurological process|upregulation of neurological process|stimulation of neurological process|positive regulation of neurological system process|up-regulation of neurological process|activation of neurological process owl:Class GO:0045987 biolink:NamedThing positive regulation of smooth muscle contraction Any process that activates or increases the frequency, rate or extent of smooth muscle contraction. tmpte7i6ely_mondo_relaxed.owl stimulation of smooth muscle contraction|up-regulation of smooth muscle contraction|upregulation of smooth muscle contraction|up regulation of smooth muscle contraction|activation of smooth muscle contraction owl:Class GO:0045933 biolink:NamedThing positive regulation of muscle contraction Any process that activates or increases the frequency, rate or extent of muscle contraction. tmpte7i6ely_mondo_relaxed.owl stimulation of muscle contraction|upregulation of muscle contraction|up-regulation of muscle contraction|up regulation of muscle contraction|activation of muscle contraction owl:Class NCBITaxon:197563 biolink:NamedThing Mandibulata tmpte7i6ely_mondo_relaxed.owl mandibulates PMID:11557979|GC_ID:1|PMID:9727836 ncbi_taxonomy owl:Class NCBITaxon:6656 biolink:NamedThing Arthropoda tmpte7i6ely_mondo_relaxed.owl arthropods GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021429 biolink:NamedThing squamous cell carcinoma of floor of mouth A squamous cell carcinoma that involves the mouth floor. tmpte7i6ely_mondo_relaxed.owl mouth floor squamous cell carcinoma|squamous cell carcinoma of the floor of mouth|floor of mouth squamous cell carcinoma|scc of the floor of mouth|floor of mouth scc|scc of floor of mouth SCTID:276954004|UMLS:C0280300|NCIT:C4041 owl:Class ECTO:9001701 biolink:NamedThing exposure to reagent An exposure to reagent. tmpte7i6ely_mondo_relaxed.owl exposure to reagent owl:Class HGNC:8999 biolink:NamedThing PISD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016289 biolink:NamedThing malignant germ cell tumor of cervix uteri A malignant germ cell tumor that involves the uterine cervix. tmpte7i6ely_mondo_relaxed.owl cervical malignant germ cell tumor|germ cell cancer of the cervix uteri|cervical germ cell cancer|uterine cervix malignant germ cell tumor|germ cell cancer of cervix uteri|malignant germ cell tumor of the cervix uteri ICD10:C53.8|UMLS:CN201079|Orphanet:213837|ICD10:C53.0|ICD10:C53.1 owl:Class MONDO:0010622 biolink:NamedThing recessive X-linked ichthyosis A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. tmpte7i6ely_mondo_relaxed.owl placental steroid sulfatase deficiency|X-linked placental steryl-sulphatase deficiency|XLI|RXLI|STS deficiency|ichthyosis, X-linked, complicated|steroid sulfatase deficiency disease|X linked ichthyosis|ichthyosis, X-linked|SSDD|ichthyosis (disease), X-linked|recessive X-linked ichthyosis|steroid sulfatase deficiency|X-linked ichthyosis|X-linked ichthyosis with steryl-sulphatase deficiency|X-linked recessive ichthyosis ICD10:Q80.1|DOID:1700|NCIT:C84779|OMIM:300001|SCTID:3944006|OMIM:308100|Orphanet:281090|GARD:0007904|Orphanet:461|UMLS:C0079588|MedDRA:10048063 There are both syndromic and non-syndromic forms of this disease (PMID:20643494). https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0015947 biolink:NamedThing inherited ichthyosis Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary ichthyosis (disease)|ichthyosis congenita|genetic ichthyosis|fish scale disease|fish skin|congenital ichthyosis of skin|congenital ichthyosis|inherited genetic ichthyosis ICD10:Q80|MedDRA:10021202|SCTID:13059002|ICD9:757.1|Orphanet:183435 https://github.com/monarch-initiative/mondo/issues/4293|https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0015288 biolink:NamedThing herpes simplex virus keratitis A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) tmpte7i6ely_mondo_relaxed.owl herpetic keratitis|HSV keratitis|Simplexvirus caused keratitis|Simplexvirus keratitis|dendritic keratitis EFO:0007308|NCIT:C34743|DOID:0080158|UMLS:C0022570|SCTID:9389005|ICD10:B00.5+|ICD10:H19.1*|UMLS:C0019357|Orphanet:137586 owl:Class MONDO:0023865 biolink:NamedThing corneal infection A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering. tmpte7i6ely_mondo_relaxed.owl keratitis caused by infection|infection of cornea|corneal infection|infective keratitis SCTID:312428002|UMLS:C0729777|NCIT:C83813|Orphanet:519278 owl:Class GO:0051970 biolink:NamedThing negative regulation of transmission of nerve impulse Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpte7i6ely_mondo_relaxed.owl down-regulation of transmission of nerve impulse|negative regulation of conduction of nerve impulse|down regulation of transmission of nerve impulse|inhibition of transmission of nerve impulse|downregulation of transmission of nerve impulse owl:Class GO:0023057 biolink:NamedThing negative regulation of signaling Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. tmpte7i6ely_mondo_relaxed.owl negative regulation of signaling process|negative regulation of signalling process owl:Class MONDO:0015185 biolink:NamedThing intestinal polyposis syndrome tmpte7i6ely_mondo_relaxed.owl SCTID:254589009|Orphanet:104010|UMLS:CN197525|MedDRA:10057018|UMLS:C0345891|MESH:D044483|NCIT:C155954 owl:Class MONDO:0020607 biolink:NamedThing Liddle syndrome 1 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. tmpte7i6ely_mondo_relaxed.owl LIDLS1|Liddle syndrome caused by mutation in SCNN1B|SCNN1B Liddle syndrome|Liddle syndrome 1|Pseudoaldosteronism|Liddle syndrome OMIM:177200 owl:Class MONDO:0008323 biolink:NamedThing Liddle syndrome Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. tmpte7i6ely_mondo_relaxed.owl pseudohyperaldosteronism type 1|pseudoaldosteronism|LIDLS|Liddle's syndrome|Liddle syndrome MedDRA:10052313|OMIMPS:177200|SCTID:707747007|NCIT:C84827|Orphanet:526|ICD10:I15.1|UMLS:C0221043|MESH:D056929|DOID:0050477|MedDRA:10037113|GARD:0007381 https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome owl:Class MONDO:0017045 biolink:NamedThing neuroectodermal-endocrine syndrome Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. tmpte7i6ely_mondo_relaxed.owl Oerter-Friedman-Anderson syndrome|neuroectodermal endocrine syndrome UMLS:CN202391|Orphanet:2676|GARD:0003959|ICD10:E31.8|SCTID:724090001 https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome owl:Class HGNC:3415 biolink:NamedThing EPO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004550 biolink:NamedThing malignant cornea melanoma A melanoma within the cornea of the eye. tmpte7i6ely_mondo_relaxed.owl cornea melanoma (disease)|malignant cornea melanoma|malignant corneal melanoma|melanoma of cornea|melanoma (disease) of cornea|malignant melanoma of the cornea|melanoma of the cornea|corneal melanoma|cornea melanoma|malignant melanoma of cornea NCIT:C4553|DOID:8400|UMLS:C0346367 owl:Class MONDO:0006325 biolink:NamedThing ocular melanoma A melanoma that arises from the structures of the eye or ocular adnexa. tmpte7i6ely_mondo_relaxed.owl ocular melanoma|OM|melanoma of the eye|eye melanoma|eyeball of camera-type eye melanoma|melanoma (disease) of eyeball of camera-type eye|eyeball of camera-type eye melanoma (disease)|melanoma of eye|eye melanoma (disease) DOID:1752|NCIT:C8562|EFO:1000403|ONCOTREE:OM|GARD:0007236 owl:Class MONDO:0002400 biolink:NamedThing synovitis Inflammation of a synovial membrane. tmpte7i6ely_mondo_relaxed.owl inflammation of synovial membrane of synovial joint|synovitis|Synovitides|synovitis (disease)|synovial membrane of synovial joint inflammation synovitis (disease) NCIT:C50766|HP:0100769|DOID:2703|EFO:0008997|MESH:D013585|SCTID:416209007|GARD:0007722 owl:Class CHEBI:57504 biolink:NamedThing L-dopa zwitterion An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of L-dopa. Major microspecies at pH 7.3. tmpte7i6ely_mondo_relaxed.owl (2S)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate|L-dopa|(2S)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate owl:Class UBERON:0008420 biolink:NamedThing buccal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17087 biolink:NamedThing ketone A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). tmpte7i6ely_mondo_relaxed.owl cetone|Ketone|ketones|Keton|a ketone|R-CO-R' owl:Class MONDO:0018620 biolink:NamedThing hypothalamic adipsic hypernatraemia syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN237660|Orphanet:443101|ICD10:E23.3 owl:Class MONDO:0024388 biolink:NamedThing Clostridium infectious disease Infections with bacteria of the genus clostridium. tmpte7i6ely_mondo_relaxed.owl commensal Clostridium infection|infections, Clostridium|Clostridium infection|commensal infection, Clostridium|infection, Clostridium|commensal infections, Clostridium ICD9:040.89|EFO:1000874|MESH:D003015|SCTID:56688005 MONDO:0006707 owl:Class UBERON:0005298 biolink:NamedThing skin of clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25812 biolink:NamedThing SRD5A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025701 biolink:NamedThing leukodystrophy, hypomyelinating, 22 tmpte7i6ely_mondo_relaxed.owl HLD22 OMIM:619328 owl:Class GO:0002504 biolink:NamedThing antigen processing and presentation of peptide or polysaccharide antigen via MHC class II The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. tmpte7i6ely_mondo_relaxed.owl peptide or polysaccharide antigen processing and presentation of via MHC class II owl:Class GO:0019882 biolink:NamedThing antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpte7i6ely_mondo_relaxed.owl antigen processing|antigen presentation owl:Class CL:0002294 biolink:NamedThing type-1 epithelial cell of thymus An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule. tmpte7i6ely_mondo_relaxed.owl subcapsular thymic epithelial cell FMA:72209 tmeehan 2010-09-13T02:37:23Z cell owl:Class MONDO:0017123 biolink:NamedThing arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. tmpte7i6ely_mondo_relaxed.owl arthrogryposis-renal dysfunction-cholestasis|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis|ARC syndrome|arthrogryposis - renal dysfunction - cholestasis|arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome SCTID:720513002|GARD:0000794|DOID:0050763|OMIM:208085|MESH:C535382|ICD10:Q89.7|OMIMPS:208085|OMIM:613404|Orphanet:2697 owl:Class UBERON:0035539 biolink:NamedThing esophageal artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070914 biolink:NamedThing UV-damage excision repair A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). tmpte7i6ely_mondo_relaxed.owl UVER|AER|UV-damaged DNA endonuclease-dependent excision repair|UVDE-dependent excision repair|alternative excision repair owl:Class GO:0006281 biolink:NamedThing DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017905 biolink:NamedThing X-linked mendelian susceptibility to mycobacterial diseases X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. tmpte7i6ely_mondo_relaxed.owl X-linked MSMD|mendelian susceptibility to mycobacterial diseases, X-linked OMIM:300645|SCTID:719814009|UMLS:CN203967|UMLS:C4304413|ICD10:D84.8|Orphanet:319605|OMIM:300636 owl:Class MONDO:0019146 biolink:NamedThing inherited susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. tmpte7i6ely_mondo_relaxed.owl Mycobacterium caused genetic susceptibility to infections due to particular pathogens|Mycobacterium genetic susceptibility to infections due to particular pathogens|Mendelian susceptibility to mycobacterial infections|MSMD|idiopathic infection caused by BCG or atypical mycobacteria|Mendelian susceptibility to atypical mycobacteria UMLS:C3266863|ICD10:D84.8|Orphanet:748|UMLS:CN181681|GARD:0012977 owl:Class MONDO:0018621 biolink:NamedThing lymphoplasmacytic lymphoma without IgM production tmpte7i6ely_mondo_relaxed.owl lymphoplasmacytic lymphoma without Immunoglobulin M production Orphanet:443159|ICD10:C83.0 owl:Class MONDO:0017594 biolink:NamedThing indolent B-cell non-Hodgkin lymphoma tmpte7i6ely_mondo_relaxed.owl B cell lymphoma, indolent|indolent B-cell NHL|indolent B cell lymphoma NCIT:C171299|Orphanet:300842|GARD:0010482 https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma owl:Class MONDO:0010187 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 1 Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. tmpte7i6ely_mondo_relaxed.owl hereditary combined deficiency of factors II, VII, IX and X|multiple coagulation Factor deficiency 3|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|vitamin K-dependent clotting factors, combined deficiency of, 1|FMFD 3|VKCFD1|glutamic acid, deficient gamma-carboxylation of|Vkcfd|hereditary combined deficiency of vitamin K-dependent clotting factors|vitamin K-dependent clotting factors, combined deficiency of, type 1|familial multiple coagulation Factor deficiency 3|vitamin K-dependent coagulation defect|factors II, VII, IX, and X, combined deficiency of|GGCX congenital vitamin K-dependent coagulation factors combined deficiency ICD10:D68.2|OMIM:277450|OMIM:607473|SCTID:724356003|UMLS:C1848534|Orphanet:98434|MESH:C564741 owl:Class MONDO:0015722 biolink:NamedThing congenital vitamin K-dependent coagulation factors deficiency Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors. tmpte7i6ely_mondo_relaxed.owl congenital vitamin K-dependent coagulation factors combined deficiency|vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450|Orphanet:98434|ICD10:D68.2|Orphanet:169826 owl:Class MONDO:0012133 biolink:NamedThing lateral semicircular canal malformation, familial, with external and middle ear abnormalities tmpte7i6ely_mondo_relaxed.owl lateral semicircular canal malformation, familial, with external and middle ear abnormalities GARD:0010067|OMIM:608814|UMLS:C1837314|MESH:C537879 https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities owl:Class HGNC:25716 biolink:NamedThing COA7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009223 biolink:NamedThing hypogonadotropic hypogonadism 23 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. tmpte7i6ely_mondo_relaxed.owl HH23|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY disorder of sex development due to LHB deficiency|hypogonadotropic hypogonadism 23 without anosmia|46,XY DSD due to LHB deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|LHB hypogonadotropic hypogonadism|46,XY DSD due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|Pasqualini syndrome|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|fertile eunuch syndrome|Leydig cell hypoplasia due to LHB deficiency ICD9:253.4|OMIM:228300|GARD:0010127|UMLS:C0271582|MESH:C537919|SCTID:8829008|Orphanet:325448|DOID:0090091|ICD10:Q56.1 owl:Class MONDO:0021416 biolink:NamedThing polyp of gallbladder A polyp that involves the gall bladder. tmpte7i6ely_mondo_relaxed.owl gallbladder polyp|gall bladder polyp|polyp of the gallbladder NCIT:C3909|UMLS:C0262493|SCTID:197433003 owl:Class MONDO:0017050 biolink:NamedThing intraocular medulloepithelioma Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations. tmpte7i6ely_mondo_relaxed.owl intraocular medulloepithelioma|orbital medulloepithelioma UMLS:C1883694|NCIT:C66806|UMLS:CN202409|Orphanet:268139 owl:Class MONDO:0012198 biolink:NamedThing PCWH syndrome Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. tmpte7i6ely_mondo_relaxed.owl peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|neurologic Waardenburg-Shah syndrome|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease|Waardenburg-Shah syndrome, neurologic variant|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|PCWH|WS4 plus Orphanet:163746|UMLS:CN239463|ICD10:E75.2|MESH:C563789|UMLS:C1836727|OMIM:609136|DOID:0090111 owl:Class MONDO:0011182 biolink:NamedThing trimethylaminuria A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. tmpte7i6ely_mondo_relaxed.owl fish malodor syndrome|trimethylaminuria|fish odor syndrome|fish-odor syndrome|trimethylaminuria (disease)|stale fish syndrome|TMAuria|TMAU trimethylaminuria (disease) SCTID:237959005|DOID:0080361|Orphanet:35056|GARD:0006447|UMLS:C0342739|HP:0003614|MESH:C536561|OMIM:602079 https://github.com/monarch-initiative/mondo/issues/3448 owl:Class MONDO:0011610 biolink:NamedThing dimethylglycine dehydrogenase deficiency An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl dimethylglycine dehydrogenase activity disease|DMG dehydrogenase deficiency|Dmgdh deficiency|DMGDHD|disorder of dimethylglycine dehydrogenase activity|dimethylglycine dehydrogenase deficiency|DMGDH deficiency Orphanet:243343|ICD10:E72.5|OMIM:605850|SCTID:719449007|UMLS:C1853892|MESH:C565278 owl:Class HP:0003418 biolink:NamedThing Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. tmpte7i6ely_mondo_relaxed.owl Back pain UMLS:C0004604|MSH:D001416|SNOMEDCT_US:161891005 human_phenotype owl:Class HP:0000925 biolink:NamedThing Abnormality of the vertebral column Any abnormality of the vertebral column. tmpte7i6ely_mondo_relaxed.owl Abnormality of the backbone|Abnormality of the spine|Abnormal vertebral column|Abnormal spine|Abnormality of the vertebral column UMLS:C4020882|UMLS:C4021789 human_phenotype owl:Class HGNC:8547 biolink:NamedThing P4HA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001684 biolink:NamedThing exocrine pancreatic insufficiency Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders. tmpte7i6ely_mondo_relaxed.owl pancreatic insufficiency|exocrine pancreas insufficiency|exocrine pancreatic insufficiency SCTID:47367009|DOID:13316|ICD10:K86.81|ICD9:577.8|UMLS:C0267963|MESH:D010188|NCIT:C84316 owl:Class HGNC:6909 biolink:NamedThing MATN3 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:90964 biolink:NamedThing Staphylococcaceae tmpte7i6ely_mondo_relaxed.owl Staphylococcus group GC_ID:11 ncbi_taxonomy owl:Class GO:1905292 biolink:NamedThing regulation of neural crest cell differentiation Any process that modulates the frequency, rate or extent of neural crest cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000736 biolink:NamedThing regulation of stem cell differentiation Any process that modulates the frequency, rate or extent of stem cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2211 biolink:NamedThing COL6A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011119 biolink:NamedThing carpometacarpal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0026426 biolink:NamedThing X inactivation, familial skewed, 2 tmpte7i6ely_mondo_relaxed.owl X-inactivation, familial skewed, 2|X INACTIVATION, FAMILIAL SKEWED, 2|SXI2 OMIM:300179 owl:Class MONDO:0100209 biolink:NamedThing X inactivation, familial skewed tmpte7i6ely_mondo_relaxed.owl This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series). http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007290 biolink:NamedThing cataract 5 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene. tmpte7i6ely_mondo_relaxed.owl cataract, lamellar|cataract (disease) caused by mutation in HSF4|cataract 5, multiple types|CTRCT5|HSF4 cataract (disease)|cataract, Marner type MESH:C535342|Orphanet:98995|DOID:0110255|OMIM:116800|Orphanet:91492|ICD10:Q12.0 owl:Class NCBITaxon:1717 biolink:NamedThing Corynebacterium diphtheriae tmpte7i6ely_mondo_relaxed.owl Microsporon diphthericum|Bacterium diphtheriae|Pacinia loeffleri|Microsporon diphtheriticum|Bacillus diphtheriae|Mycobacterium diphtheriae PMID:7729671|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1716 biolink:NamedThing Corynebacterium tmpte7i6ely_mondo_relaxed.owl Turicella PMID:7547291|PMID:8186090|GC_ID:11|PMID:29760685|PMID:19661509|PMID:10425754|PMID:7547293|PMID:7547284|PMID:30186281 NCBITaxon:144193 ncbi_taxonomy owl:Class MONDO:0011457 biolink:NamedThing ataxia-telangiectasia-like disorder An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. tmpte7i6ely_mondo_relaxed.owl ataxia-telangiectasia-like disorder 1|ATLD|ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder type 1|ATLD1 OMIM:604391|UMLS:C1859598|SCTID:700058006|Orphanet:251347|UMLS:CN239583|OMIMPS:604391|ICD9:334.8|MESH:C565779|ICD10:G11.3|NCIT:C132224 owl:Class MONDO:0018364 biolink:NamedThing malignant epithelial tumor of ovary An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor. tmpte7i6ely_mondo_relaxed.owl epithelial cancer of ovary|malignant ovarian epithelial tumor|malignant ovarian surface epithelial-stromal neoplasm|ovarian epithelial tumor, malignant|malignant ovarian surface epithelial-stromal tumor|ovarian epithelial cancer|ovarian stromal cancer|ovarian malignant epithelial tumor NCIT:C40026|SCTID:254849005|GARD:0009362|MESH:C538090|DOID:2151|Orphanet:398934 Editor note: check inference with carcinoma owl:Class HGNC:325 biolink:NamedThing AGPAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000818 biolink:NamedThing Abnormality of the endocrine system An abnormality of the endocrine system. tmpte7i6ely_mondo_relaxed.owl Endocrine system disease UMLS:C4025823|SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130 The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. human_phenotype owl:Class MONDO:0015843 biolink:NamedThing uterine hypoplasia tmpte7i6ely_mondo_relaxed.owl ICD10:Q51.8|MedDRA:10063146|Orphanet:180139 owl:Class GO:0045936 biolink:NamedThing negative regulation of phosphate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpte7i6ely_mondo_relaxed.owl down-regulation of phosphate metabolic process|down regulation of phosphate metabolic process|downregulation of phosphate metabolic process|negative regulation of phosphate metabolism|inhibition of phosphate metabolic process owl:Class MONDO:0030046 biolink:NamedThing neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity tmpte7i6ely_mondo_relaxed.owl NEDBASS|NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY|neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity OMIM:618890 owl:Class CL:0000185 biolink:NamedThing myoepithelial cell Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. tmpte7i6ely_mondo_relaxed.owl basket epithelial cell|myoepitheliocyte FMA:67799|CALOHA:TS-2379|BTO:0002309 cell owl:Class CL:0000075 biolink:NamedThing columnar/cuboidal epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0000638 biolink:NamedThing benign glioma A form of glioma without malignant characteristics. tmpte7i6ely_mondo_relaxed.owl glioma, benign DOID:0060101 owl:Class MONDO:0013353 biolink:NamedThing intellectual disability, anterior maxillary protrusion, and strabismus tmpte7i6ely_mondo_relaxed.owl MRAMS|mental retardation, anterior maxillary protrusion, and strabismus|intellectual disability, anterior maxillary protrusion, and strabismus Orphanet:562559|UMLS:C3150924|OMIM:613671 owl:Class UBERON:0004872 biolink:NamedThing splanchnic layer of lateral plate mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018306 biolink:NamedThing Griscelli syndrome Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). tmpte7i6ely_mondo_relaxed.owl ChC)diak-Higashi-like syndrome|Griscelli disease|Griscelli-PruniC)ras syndrome|partial albinism-immunodeficiency syndrome|Ch��diak-Higashi-like syndrome|Griscelli-Pruniéras syndrome|Griscelli-Pruni��ras syndrome|Chédiak-Higashi-like syndrome SCTID:37548006|OMIMPS:214450|OMIM:609227|ICD9:270.2|UMLS:CN204933|ICD10:E70.3|Orphanet:381|DOID:0060831|GARD:0010913|OMIM:214450|OMIM:607624 https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome owl:Class HP:0002840 biolink:NamedThing Lymphadenitis Inflammation of a lymph node. tmpte7i6ely_mondo_relaxed.owl Inflammation of the lymph nodes UMLS:C0024205|MSH:D008199|SNOMEDCT_US:19471005 human_phenotype owl:Class HP:0002733 biolink:NamedThing Abnormality of the lymph nodes A lymph node abnormality. tmpte7i6ely_mondo_relaxed.owl Abnormal lymph node histology|Abnormality of the lymph nodes UMLS:C0149727 HP:0008149 human_phenotype owl:Class MONDO:0003515 biolink:NamedThing fallopian tube teratoma A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally. tmpte7i6ely_mondo_relaxed.owl fallopian tube teratoma DOID:5564|UMLS:C1517127|NCIT:C40131 owl:Class MONDO:0003392 biolink:NamedThing fallopian tube germ cell tumor A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas. tmpte7i6ely_mondo_relaxed.owl fallopian tube germ cell cancer|fallopian tube germ cell tumor|fallopian tube germ cell neoplasm UMLS:C1517114|NCIT:C40130|DOID:5324 owl:Class MONDO:0006926 biolink:NamedThing haemophilus infectious disease Infections with bacteria of the genus haemophilus. tmpte7i6ely_mondo_relaxed.owl Hemophilus infection|Haemophilus infection|infection, Hemophilus|Hemophilus infections|Haemophilus infectious disease|Haemophilus disease or disorder|infection, Haemophilus|infections, Hemophilus|infections, Haemophilus|haemophilus infectious disease|Haemophilus caused disease or disorder SCTID:41659003|NCIT:C34654|MESH:D006192|EFO:1001127 owl:Class MONDO:0016443 biolink:NamedThing papular elastorrhexis An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities. tmpte7i6ely_mondo_relaxed.owl eruptive collagenoma|Nevus anelasticus|disseminated nevus anelasticus UMLS:C0406816|Orphanet:228264|UMLS:C0473584|NCIT:C4707|SCTID:239138008 owl:Class CHEBI:50315 biolink:NamedThing chloronium tmpte7i6ely_mondo_relaxed.owl chloronium|[ClH2](+)|chloranium|H2Cl(+) owl:Class GO:2001169 biolink:NamedThing regulation of ATP biosynthetic process Any process that modulates the frequency, rate or extent of ATP biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of ATP synthesis|regulation of ATP anabolism|regulation of ATP regeneration|regulation of ATP formation|regulation of ATP biosynthesis owl:Class GO:1900371 biolink:NamedThing regulation of purine nucleotide biosynthetic process Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpte7i6ely_mondo_relaxed.owl regulation of purine nucleotide synthesis|regulation of purine nucleotide anabolism|regulation of purine nucleotide biosynthesis|regulation of purine nucleotide formation owl:Class MONDO:0015748 biolink:NamedThing hereditary mucosal leukokeratosis White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. tmpte7i6ely_mondo_relaxed.owl hereditary mucosal leukokeratosis|white sponge nevus|white sponge nevus of Cannon|White sponge nevus of Cannon MESH:D053529|NCIT:C84760|OMIM:615785|OMIM:193900|ICD9:528.6|Orphanet:171723|GARD:0008501|SCTID:389203001|UMLS:C1721005|OMIMPS:193900|ICD10:Q38.6|DOID:0050448 owl:Class GO:0009201 biolink:NamedThing ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleoside triphosphate anabolism|ribonucleoside triphosphate biosynthesis|ribonucleoside triphosphate formation|ribonucleoside triphosphate synthesis owl:Class MONDO:0005065 biolink:NamedThing mesothelioma A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. tmpte7i6ely_mondo_relaxed.owl mesothelioma ICD10:C45|UMLS:C0025500|OMIM:156240|DOID:1790|NCIT:C3234|EFO:0000588|MESH:D008654 owl:Class MONDO:0013338 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate B Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth neuropathy recessive intermediate B|RI-CMTB|autosomal recessive intermediate Charcot-Marie-Tooth disease type B|CMTRIB|Charcot-Marie-Tooth disease, recessive Intermediate type B|KARS Charcot-Marie-Tooth disease|RI-CMT type B|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease, recessive intermediate, B|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth neuropathy, recessive Intermediate B Orphanet:254334|DOID:0110204|GARD:0012454|UMLS:C3150897|OMIM:613641|ICD10:G60.0 owl:Class MONDO:0011717 biolink:NamedThing hyperinsulinism-hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. tmpte7i6ely_mondo_relaxed.owl GDH hyperinsulinism|hyperinsulinism/hyperammonemia syndrome|hyperinsulinemic hypoglycemia, familial, type 6|hi/HA syndrome|hyperinsulinemic hypoglycemia familial 6|HA/hi syndrome|hyperinsulinism hyperammonemia syndrome|HHF6|hyperinsulinemic hypoglycemia, familial, 6|GLUD1 hyperinsulinism|glutamate dehydrogenase 1 hyperinsulinism|hyperinsulinism-hyperammonemia syndrome MESH:C538375|GARD:0009931|Orphanet:35878|OMIM:606762|NCIT:C131832|DOID:0070217|ICD10:E72.8|UMLS:C1847555 https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome owl:Class MONDO:0019034 biolink:NamedThing accessory pancreas Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. tmpte7i6ely_mondo_relaxed.owl pancreas accessorium SCTID:79037006|Orphanet:674|MESH:C536003|GARD:0000454|ICD10:Q45.3 https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas owl:Class MONDO:0013487 biolink:NamedThing recurrent Neisseria infections due to factor D deficiency tmpte7i6ely_mondo_relaxed.owl recurrent Neisseria infections due to factor D deficiency|CFDD|complement factor D deficiency|factor D deficiency MESH:C565027|Orphanet:169467|ICD9:279.8|ICD10:D84.1|SCTID:234607008|OMIM:613912|UMLS:C0398764 owl:Class MONDO:0009021 biolink:NamedThing Toriello-Carey syndrome Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. tmpte7i6ely_mondo_relaxed.owl corpus callosum agenesis facial anomalies Robin sequence|agenesis of corpus callosum with facial anomalies and Robin sequence|corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|Toriello-Carey syndrome OMIM:217980|ICD10:Q87.8|GARD:0005225|MESH:C563127|SCTID:722477003|UMLS:C0796184|Orphanet:3338 https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome owl:Class MONDO:0000332 biolink:NamedThing sennetsu fever An ehlrichiosis caused by Neorickettsia sennetsu. tmpte7i6ely_mondo_relaxed.owl Neorickettsia sennetsu disease or disorder|sennetsu fever|Neorickettsia sennetsu caused disease or disorder|Human Ehrlichial infection, sennetsu type|Neorickettsia sennetsu infectious disease|sennetsu ehrlichiosis UMLS:C0520779|ICD9:088.89|SCTID:21013006|DOID:0050485|MESH:C537582|GARD:0000120 https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever owl:Class GO:0007588 biolink:NamedThing excretion The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006620 biolink:NamedThing vulva fibroepithelial polyp A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia. tmpte7i6ely_mondo_relaxed.owl vulvar fibroepithelial stromal polyp|fibroepithelial polyp of the vulva|vulval fibroepithelial polyp|fibroepithelial polyp of vulva|mammalian vulva skin tag|vulvar fibroepithelial polyp|skin tag of mammalian vulva UMLS:C1336978|NCIT:C6857|EFO:1000777|DOID:8255 owl:Class MONDO:0021396 biolink:NamedThing polyp of vulva A polyp that involves the mammalian vulva. tmpte7i6ely_mondo_relaxed.owl mammalian vulva polyp|vulvar polyp|vulva polyp|polyp of the vulva ICD9:624.6|ICD10:N84.3|SCTID:57158005|UMLS:C0269218|NCIT:C3978 owl:Class MONDO:0004777 biolink:NamedThing acute laryngitis An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. tmpte7i6ely_mondo_relaxed.owl laryngitis|laryngitis, acute ICD9:464.0|NCIT:C26688|ICD9:464.00|ICD9:464.01|UMLS:C0001327|SCTID:6655004|DOID:9396|ICD10:J04.0 owl:Class MONDO:0008926 biolink:NamedThing COFS syndrome Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. tmpte7i6ely_mondo_relaxed.owl COFS|cerebro-oculo-facio-skeletal syndrome|cerebrooculofacioskeletal syndrome|Pena-Shokeir syndrome type 2 OMIM:610758|OMIM:610756|NCIT:C3817|GARD:0006027|Orphanet:1466|OMIM:214150|OMIM:278780|OMIM:616570|UMLS:C0220722|OMIMPS:214150|ICD10:Q87.1 owl:Class MONDO:0017904 biolink:NamedThing steroid dehydrogenase deficiency-dental anomalies syndrome Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. tmpte7i6ely_mondo_relaxed.owl severe dental aberrations in familial steroid dehydrogenase deficiency|steroid dehydrogenase deficiency dental anomalies|Lyngstadaas syndrome MESH:C537490|Orphanet:3196|SCTID:723583009|ICD10:K76.8|UMLS:C2931508|GARD:0005015 owl:Class GO:0006886 biolink:NamedThing intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. tmpte7i6ely_mondo_relaxed.owl copper-induced intracellular protein transport owl:Class GO:0046907 biolink:NamedThing intracellular transport The directed movement of substances within a cell. tmpte7i6ely_mondo_relaxed.owl single organism intracellular transport|single-organism intracellular transport owl:Class MONDO:0015199 biolink:NamedThing aniridia - intellectual disability syndrome Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. tmpte7i6ely_mondo_relaxed.owl aniridia associated with intellectual disability and other eye abnormalities|aniridia associated with mental retardation and other eye abnormalities|Walker Dyson syndrome|Walker-Dyson syndrome UMLS:C2931243|MESH:C536568|GARD:0005530|Orphanet:1068 owl:Class UBERON:0002169 biolink:NamedThing alveolar sac tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0011019 biolink:NamedThing mesothelial cell of epicardium A mesothelial cell that is part of the epicardium. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000111 biolink:NamedThing 17-year-old human stage Adolescent stage that refers to an adolescent who is over 17 and under 18 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002274 biolink:NamedThing histamine secreting cell A cell type that secretes histamine. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-10T03:04:42Z cell owl:Class CL:0000457 biolink:NamedThing biogenic amine secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class NCBITaxon:36827 biolink:NamedThing Clostridium botulinum B tmpte7i6ely_mondo_relaxed.owl PMID:8863443|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1491 biolink:NamedThing Clostridium botulinum tmpte7i6ely_mondo_relaxed.owl Clostridium putrificum|Ermengemillus botulinus|Pacinia putrifica|Bacillus botulinus|Botulobacillus botulinus|Bacillus putrificus GC_ID:11|PMID:15244052|PMID:10028279 NCBITaxon:29368 ncbi_taxonomy owl:Class MONDO:0004812 biolink:NamedThing acute dacryoadenitis Acute form of dacryoadenitis. tmpte7i6ely_mondo_relaxed.owl dacryoadenitis, acute ICD9:375.01|DOID:952|ICD10:H04.01|UMLS:C0149505|SCTID:2589008 owl:Class MONDO:0014664 biolink:NamedThing Joubert syndrome 23 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene. tmpte7i6ely_mondo_relaxed.owl KIAA0586 Joubert syndrome|Joubert syndrome 23|JBTS23|Joubert syndrome caused by mutation in KIAA0586|Joubert syndrome type 23 OMIM:616490|Orphanet:475|DOID:0110992|UMLS:C4084822 owl:Class MONDO:0019540 biolink:NamedThing diffuse alveolar hemorrhage tmpte7i6ely_mondo_relaxed.owl diffuse alveolar hemorrhage|diffuse alveolar hemorrhage (disease) diffuse alveolar hemorrhage (disease) Orphanet:90060|ICD10:J98.4|HP:0025420|UMLS:CN206369 owl:Class MONDO:0010925 biolink:NamedThing velo-facial-skeletal syndrome Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. tmpte7i6ely_mondo_relaxed.owl VELOFACIOSKELETAL syndrome Orphanet:3424|GARD:0005469|OMIM:600736|MESH:C536536|ICD10:Q87.0|SCTID:763616002|UMLS:C1833380 owl:Class MONDO:0012055 biolink:NamedThing Larsen-like osseous dysplasia-short stature syndrome Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. tmpte7i6ely_mondo_relaxed.owl Larsen-like syndrome|Lrsl OMIM:608545|Orphanet:2370|MESH:C563914|ICD10:Q74.8|UMLS:C1837884 owl:Class MONDO:0005552 biolink:NamedThing ocular vascular disorder A disorder that is caused by pathologic changes in the ocular vasculature. tmpte7i6ely_mondo_relaxed.owl ocular vascular disorder|disease of vasculature of eye|vasculature of eye disease|disease or disorder of vasculature of eye|vasculature of eye disease or disorder|disorder of vasculature of eye NCIT:C35664|EFO:0005753 owl:Class MONDO:0000587 biolink:NamedThing autoimmune disease of ear, nose and throat An autoimmune form of otorhinolaryngologic disease. tmpte7i6ely_mondo_relaxed.owl autoimmune otorhinolaryngologic disease|autoimmune disease of eyes, ear, nose and throat DOID:0060030 Editor note: ENT typically excludes eye, but the DOID class includes this owl:Class UBERON:0005340 biolink:NamedThing dorsal telencephalic commissure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019294 biolink:NamedThing commissure of telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002586 biolink:NamedThing retinal pigment epithelial cell An epithelial cell of the retinal pigmented epithelium. tmpte7i6ely_mondo_relaxed.owl FMA:75802|BTO:0004910 tmeehan 2011-03-06T03:37:09Z cell owl:Class MONDO:0003263 biolink:NamedThing childhood cerebellar neoplasm A neoplasm that affects the cerebellum and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood cerebellar neoplasm|childhood tumor of cerebellum|childhood cerebellar tumor|pediatric cerebellar tumor|childhood cerebellar neoplasms|pediatric tumor of cerebellum|childhood tumor of the cerebellum|pediatric neoplasm of cerebellum|childhood neoplasm of the cerebellum|childhood neoplasm of cerebellum|pediatric neoplasm of the cerebellum|pediatric cerebellar neoplasm|childhood cerebellar tumors|pediatric tumor of the cerebellum UMLS:C1332959|NCIT:C5970|DOID:5059 owl:Class MONDO:0001229 biolink:NamedThing small intestine diverticulitis A diverticulitis that involves the small intestine. tmpte7i6ely_mondo_relaxed.owl diverticulitis of small intestine|small intestine diverticulitis|diverticulosis of small intestine with hemorrhage ICD9:562.01|UMLS:C0156164|DOID:11223|SCTID:56165008|ICD9:562.02 owl:Class CL:1000324 biolink:NamedThing duodenal goblet cell A goblet cell that is part of the epithelium proper of duodenum. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium proper of duodenum FMA:263063 cell owl:Class MONDO:0024565 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome 1 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. tmpte7i6ely_mondo_relaxed.owl NECTIN4 ectodermal dysplasia-syndactyly syndrome|EDSS1|ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4|ectodermal dysplasia-syndactyly syndrome 1 UMLS:C3150807|Orphanet:247820|OMIM:613573 owl:Class MONDO:0013311 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome 1|EDSS|EDSS1|ectodermal dysplasia-syndactyly syndrome type 1 UMLS:CN228599|OMIMPS:613573|Orphanet:247820|ICD10:Q82.8|OMIM:613573 owl:Class MONDO:0024665 biolink:NamedThing indeterminate sex and/or pseudohermaphroditism tmpte7i6ely_mondo_relaxed.owl gynandrism ICD10:Q56|ICD9:752.7|SCTID:268229003 owl:Class MONDO:0003978 biolink:NamedThing colon small cell neuroendocrine carcinoma An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. tmpte7i6ely_mondo_relaxed.owl colonic small cell carcinoma|small cell colon carcinoma|colonic Oat cell carcinoma|colon small cell neuroendocrine cancer|small cell carcinoma of the colon|small cell carcinoma of colon|colon small cell carcinoma|Oat cell carcinoma of colon|colon small cell neuroendocrine carcinoma|Oat cell carcinoma of the colon|colon Oat cell carcinoma|Oat cell colon carcinoma NCIT:C6761|UMLS:C1333099|DOID:6727 owl:Class UBERON:0007238 biolink:NamedThing 1st arch maxillary component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004817 biolink:NamedThing lacrimal gland epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015524 biolink:NamedThing hyperplastic polyposis syndrome Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. tmpte7i6ely_mondo_relaxed.owl serrated polyposis NCIT:C165469|OMIM:617108|OMIM:175020|UMLS:CN199665|Orphanet:157798|SCTID:763536006|ICD10:D12.6 owl:Class MONDO:0018188 biolink:NamedThing genetic intestinal polyposis tmpte7i6ely_mondo_relaxed.owl familial intestinal polyposis Orphanet:363314|UMLS:C2713443|ICD10:D12.6 owl:Class HP:0008055 biolink:NamedThing Aplasia/Hypoplasia affecting the uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. tmpte7i6ely_mondo_relaxed.owl Absent/underdeveloped uvea UMLS:C4024746 peter 2008-04-02T03:24:00Z human_phenotype owl:Class HP:0000553 biolink:NamedThing Abnormal uvea morphology An abnormality of the uvea, the vascular layer of the eyeball. tmpte7i6ely_mondo_relaxed.owl Abnormality of the uvea UMLS:C4025842 human_phenotype owl:Class UBERON:0000454 biolink:NamedThing cerebral subcortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020757 biolink:NamedThing sporadic hemiplegic migraine A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. tmpte7i6ely_mondo_relaxed.owl sporadic hemiplegic migraine NCIT:C117011 owl:Class MONDO:0005374 biolink:NamedThing bone marrow neoplasm Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). tmpte7i6ely_mondo_relaxed.owl bone marrow neoplasm|neoplasm of bone marrow|bone marrow cancer|bone marrow tumor|tumor of bone marrow|bone marrow neoplasm (disease)|malignant bone marrow tumor DOID:4960|ICD9:238.79|SCTID:425333006|SCTID:414824005|MESH:D019046|ICD10:D47.1|NCIT:C35370|UMLS:C0282609 owl:Class FOODON:03411335 biolink:NamedThing crab Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab] tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001785 biolink:NamedThing crab food product tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:171 biolink:NamedThing Leptospira tmpte7i6ely_mondo_relaxed.owl PMID:10425768|PMID:9103653|PMID:1581182|GC_ID:11|PMID:19868121 NCBITaxon:29512|NCBITaxon:29516|NCBITaxon:29514 ncbi_taxonomy owl:Class NCBITaxon:170 biolink:NamedThing Leptospiraceae tmpte7i6ely_mondo_relaxed.owl PMID:16014471|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007001 biolink:NamedThing tricuspid valve prolapse Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus. tmpte7i6ely_mondo_relaxed.owl tricuspid valve prolapse (disease)|tricuspid valve prolapse tricuspid valve prolapse (disease) MedDRA:10066862|ICD10:Q22.8|DOID:5644|Orphanet:95458|SCTID:253383003|HP:0001704|MESH:D014263|EFO:1001218|UMLS:C0040962 owl:Class MONDO:0007986 biolink:NamedThing metatropic dysplasia Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. tmpte7i6ely_mondo_relaxed.owl Metatropic dwarfism|metatropic dysplasia|Metatropic dysplasia, nonlethal dominant ICD10:Q77.8|SCTID:22764001|GARD:0003571|MESH:C537356|OMIM:156530|Orphanet:2635|DOID:0111514 https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia owl:Class MONDO:0019621 biolink:NamedThing chronic pneumonitis of infancy Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD). tmpte7i6ely_mondo_relaxed.owl CPI ICD10:J84.0|UMLS:CN206472|UMLS:C3872848|Orphanet:91359|SCTID:708026002 owl:Class GO:0007162 biolink:NamedThing negative regulation of cell adhesion Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. tmpte7i6ely_mondo_relaxed.owl downregulation of cell adhesion|down regulation of cell adhesion|cell adhesion receptor inhibitor activity|inhibition of cell adhesion|down-regulation of cell adhesion owl:Class HGNC:33235 biolink:NamedThing PWRN1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004178 biolink:NamedThing aorta smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045760 biolink:NamedThing positive regulation of action potential Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpte7i6ely_mondo_relaxed.owl up-regulation of action potential|stimulation of action potential|activation of action potential|up regulation of action potential|upregulation of action potential owl:Class MONDO:0011537 biolink:NamedThing macrocephaly-autism syndrome An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. tmpte7i6ely_mondo_relaxed.owl macrocephaly/autism syndrome|macrocephaly-intellectual disability-autism syndrome UMLS:C1854416|MESH:C565342|DOID:0060867|OMIM:605309|Orphanet:210548 owl:Class MONDO:0019253 biolink:NamedThing metabolic disease involving other neurotransmitter deficiency tmpte7i6ely_mondo_relaxed.owl UMLS:CN205839|Orphanet:79219 owl:Class MONDO:0015436 biolink:NamedThing ring chromosome 20 Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. tmpte7i6ely_mondo_relaxed.owl R20|Ring 20|Ring chromosome 20 syndrome|Ring chromosome type 20|chromosome 20 ring SCTID:23686004|ICD9:758.89|GARD:0001334|Orphanet:1444|NCIT:C169001|MESH:C580424|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20 owl:Class MONDO:0020378 biolink:NamedThing early-onset posterior polar cataract tmpte7i6ely_mondo_relaxed.owl Orphanet:98993|ICD10:Q12.0|OMIM:613763 owl:Class MONDO:0013411 biolink:NamedThing cataract 16 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene. tmpte7i6ely_mondo_relaxed.owl CTPP2|cataract 16, multiple types|early-onset non-syndromic cataract caused by mutation in CRYAB|CTRCT16|cataract, posterior polar, 2|cataract, congenital lamellar|posterior polar cataract 2|CRYAB early-onset non-syndromic cataract Orphanet:91492|Orphanet:98993|ICD10:Q12.0|OMIM:613763|DOID:0110250|Orphanet:98995|MESH:C565134 owl:Class MONDO:0002218 biolink:NamedThing temporal lobe cancer A cancer that involves the temporal lobe. tmpte7i6ely_mondo_relaxed.owl temporal lobe neoplasm|cancer of temporal lobe|malignant neoplasm of temporal lobe|malignant temporal lobe neoplasm|temporal lobe cancer SCTID:126955002|DOID:2135|ICD9:191.2|UMLS:C0153636|NCIT:C5567|ICD10:C71.2|SCTID:363468009|UMLS:C1263887 owl:Class MONDO:0021372 biolink:NamedThing neoplasm of temporal lobe A neoplasm (disease) that involves the temporal lobe. tmpte7i6ely_mondo_relaxed.owl temporal lobe neoplasm|temporal lobe neoplasm (disease)|tumor of the temporal lobe|neoplasm of temporal lobe|neoplasm of the temporal lobe|tumor of temporal lobe|temporal lobe tumor NCIT:C5567|UMLS:C1263887|SCTID:126955002 owl:Class MONDO:0021064 biolink:NamedThing jugulotympanic paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear. tmpte7i6ely_mondo_relaxed.owl jugulotympanic paraganglioma|glomus jugulare neoplasm|tumor of the glomus jugulare|neoplasm of glomus jugulare|jugular paraganglioma|Glomus tumor|Paraganglioma - glomus jugulare|glomus jugulare tumor|neoplasm of the glomus jugulare|tumor of glomus jugulare|basicranium parasympathetic paraganglioma|parasympathetic paraganglioma of basicranium NCIT:C3061|UMLS:C0017671|ICDO:8690/1|SCTID:127030001|ICD9:239.7|GARD:0010599 owl:Class UBERON:0001051 biolink:NamedThing hypopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900116 biolink:NamedThing extracellular negative regulation of signal transduction Any negative regulation of signal transduction that takes place in extracellular region. tmpte7i6ely_mondo_relaxed.owl inhibition of signal transduction in extracellular region|down-regulation of signal transduction in extracellular region|negative regulation of signalling pathway in extracellular region|downregulation of signal transduction in extracellular region|extracellular inhibition of signaling pathway|down regulation of signal transduction in extracellular region|negative regulation of signaling pathway in extracellular region owl:Class MONDO:0013843 biolink:NamedThing intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene. tmpte7i6ely_mondo_relaxed.owl GUCY2C meconium ileus|meconium ileus caused by mutation in GUCY2C|meconium ileus due to guanylate cyclase 2C deficiency|meconium ileus SCTID:733447005|Orphanet:314376|ICD9:777.1|ICD10:P76.0|OMIM:614665 owl:Class MONDO:0003096 biolink:NamedThing deep hemangioma A hemangioma arising from the deep soft tissues. tmpte7i6ely_mondo_relaxed.owl deep hemangioma|deep angioma DOID:469|NCIT:C6555|UMLS:C1333265 owl:Class MONDO:0017778 biolink:NamedThing lamellar ichthyosis A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. tmpte7i6ely_mondo_relaxed.owl congenital lamellar ichthyosis|LI|classic lamellar ichthyosis OMIM:146750|NCIT:C84805|OMIM:601277|OMIM:604777|MESH:D017490|OMIM:242300|MedDRA:10023686|OMIM:613943|ICD10:Q80.2|OMIM:612281|OMIM:606545|GARD:0010803|Orphanet:313 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0008991 biolink:NamedThing Verloove Vanhorick-Brubakk syndrome Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. tmpte7i6ely_mondo_relaxed.owl cleft-limb-heart malformation syndrome syndrome|Verloove Vanhorick Brubakk syndrome|cleft limb heart malformation syndrome|cleft lip-limb and heart malformations syndrome|Clh syndrome|cleft-limb-heart malformation syndrome UMLS:C1859082|SCTID:764697003|GARD:0005482|ICD10:Q87.8|MESH:C536541|OMIM:215850|Orphanet:3429 https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome owl:Class UBERON:0001318 biolink:NamedThing inferior vesical vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016853 biolink:NamedThing interdigital gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015788 biolink:NamedThing olfactory apparatus chamber tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003419 biolink:NamedThing mesenchyme of parotid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003324 biolink:NamedThing mesenchyme of lower jaw tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:15377 biolink:NamedThing water An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms. tmpte7i6ely_mondo_relaxed.owl Wasser|hydrogen hydroxide|dihydridooxygen|[OH2]|WATER|BOUND WATER|dihydrogen oxide|acqua|eau|Water|agua|HOH|aqua|H2O|water|oxidane owl:Class CHEBI:52625 biolink:NamedThing inorganic hydroxy compound tmpte7i6ely_mondo_relaxed.owl inorganic hydroxides owl:Class MONDO:0011882 biolink:NamedThing skin fragility-woolly hair-palmoplantar keratoderma syndrome tmpte7i6ely_mondo_relaxed.owl skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|SFWHS|skin fragility-woolly hair syndrome|skin fragility woolly hair syndrome MESH:C564359|GARD:0005231|UMLS:C1843292|OMIM:607655|Orphanet:293165|ICD10:Q82.8 https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome owl:Class UBERON:0012283 biolink:NamedThing femoral fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1980416 biolink:NamedThing Peribunyaviridae tmpte7i6ely_mondo_relaxed.owl Bunyaviridae GC_ID:1 NCBITaxon:11571 ncbi_taxonomy owl:Class NCBITaxon:1980410 biolink:NamedThing Bunyavirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012973 biolink:NamedThing inflammatory bowel disease 26 An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15. tmpte7i6ely_mondo_relaxed.owl IBD26|inflammatory bowel disease 26|inflammatory bowel disease type 26 MESH:C567217|DOID:0110901|UMLS:C2675249|OMIM:612639 owl:Class UBERON:0010584 biolink:NamedThing pedal digit 5 phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010585 biolink:NamedThing pedal digit phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019869 biolink:NamedThing mosaic trisomy 22 Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. tmpte7i6ely_mondo_relaxed.owl trisomy 22 mosaicism|Mosaic trisomy type 22|Mosaic trisomy chromosome 22 ICD10:Q92.1|SCTID:764625002|MESH:C536796|GARD:0006085|Orphanet:96068 https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 owl:Class MONDO:0011014 biolink:NamedThing pleuropulmonary blastoma A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. tmpte7i6ely_mondo_relaxed.owl childhood pulmonary blastoma|PPB familial tumor and dysplasia syndrome|pleuropulmonary blastoma|pulmonary blastoma of childhood|pleuropulmonary blastoma (morphologic abnormality)|pediatric pulmonary blastoma|PPB Orphanet:284343|NCIT:C5669|MESH:C537516|SCTID:707670009|Orphanet:64742|UMLS:CN072455|ICDO:8973/3|ICD9:162.9|ICD10:C34.2|EFO:0009052|GARD:0008757|ICD10:C34.9|ONCOTREE:PPB|ICD10:C34.3|UMLS:C1266144|DOID:4769|OMIM:601200|ICD10:C34.1 owl:Class GO:0003354 biolink:NamedThing negative regulation of cilium movement Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpte7i6ely_mondo_relaxed.owl negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement owl:Class MONDO:0021259 biolink:NamedThing prostate neoplasm A neoplasm (disease) that involves the prostate gland. tmpte7i6ely_mondo_relaxed.owl tumor of prostate gland|neoplasm of the prostate|neoplasm of prostate|prostate tumor|prostate gland neoplasm (disease)|prostate gland tumor|neoplasm of prostate gland|tumor of prostate|tumor of the prostate|nodular prostate|prostate gland neoplasm|prostate nodule DOID:13206|ICD10:N40|ICD9:600.1|ONCOTREE:PROSTATE|NCIT:C3343 MONDO:0001659 owl:Class HGNC:8805 biolink:NamedThing PDGFRL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010670 biolink:NamedThing X-linked intellectual disability-spastic quadriparesis syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia UMLS:C1839727|MESH:C564099|OMIM:309640|Orphanet:163982 owl:Class MONDO:0012669 biolink:NamedThing Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. tmpte7i6ely_mondo_relaxed.owl neurofibromatosis type 1 like syndrome|Legius syndrome|neurofibromatosis 1-like syndrome|NF1-like syndrome|neurofibromatosis type 1-like syndrome ICD9:709.09|OMIM:611431|ICD10:Q85.0|GARD:0010714|MESH:C548032|Orphanet:137605|UMLS:C1969623|SCTID:703541007 https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome owl:Class MONDO:0024988 biolink:NamedThing sex cord-stromal benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. tmpte7i6ely_mondo_relaxed.owl DOID:0080368 owl:Class NCBITaxon:12090 biolink:NamedThing Enterovirus D70 tmpte7i6ely_mondo_relaxed.owl Enterovirus 70|Enterovirus type 70|Human enterovirus 70 GC_ID:1 NCBITaxon:36405 ncbi_taxonomy owl:Class MONDO:0040671 biolink:NamedThing class V glucose-6-phosphate dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl G6PD deficiency|glucose-6-phosphate dehydrogenase deficiency class V variant anemia|G6PD class V variant anemia|favism SCTID:80963002|UMLS:C0272060|Orphanet:362 Editor note: TODO, see PMID:2633878 owl:Class MONDO:0005775 biolink:NamedThing G6PD deficiency An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. tmpte7i6ely_mondo_relaxed.owl G6PD deficiency|rare inborn error of glucose-6-phosphate dehydrogenase activity|inborn glucose-6-phosphate dehydrogenase activity disorder|G-6-PD variant enzyme deficiency Anemia|glucosephosphate dehydrogenase deficiency|G6PD|inborn error of glucose-6-phosphate dehydrogenase activity|deficiency of G-6PD|glucose-6-phosphate dehydrogenase deficiency NCIT:C98933|SCTID:62403005|UMLS:C2939465|DOID:2862|MESH:D005955|EFO:0007287 owl:Class CHEBI:33958 biolink:NamedThing halide salt tmpte7i6ely_mondo_relaxed.owl halides|halide salts owl:Class CHEBI:24866 biolink:NamedThing salt A salt is an assembly of cations and anions. tmpte7i6ely_mondo_relaxed.owl Salz|Salze|ionic compound|sales|sel|sal|ionic compounds|sels|salt|salts owl:Class UBERON:0004455 biolink:NamedThing neurula embryo tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002386 biolink:NamedThing forelimb zeugopod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007835 biolink:NamedThing intussusception Telescoping or invagination of a part of the intestine into an adjacent segment. tmpte7i6ely_mondo_relaxed.owl intussusception (morphologic abnormality)|invagination of intestine or colon|intussusception of intestine|intussusception OMIM:147710|ICD9:560.0|ICD10:K56.1|UMLS:C0021933|MESH:D007443|NCIT:C113484|DOID:8446|SCTID:49723003 owl:Class MONDO:0007698 biolink:NamedThing hand-foot-genital syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. tmpte7i6ely_mondo_relaxed.owl HFG|hand-foot-genital syndrome|HFG syndrome|hand foot uterus syndrome|HFU syndrome|HFGS|hand-foot-uterus syndrome|hand foot genital syndrome ICD10:Q51.2|GARD:0002594|ICD9:759.89|MedDRA:10072361|MESH:C535627|Orphanet:2438|OMIM:140000|DOID:0060739|UMLS:C1841679|SCTID:702425002 owl:Class MONDO:0007235 biolink:NamedThing branchiooculofacial syndrome Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. tmpte7i6ely_mondo_relaxed.owl branchiooculofacial syndrome|BOFS|Bof syndrome|BOFS syndrome|branchio-oculo-facial syndrome|branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome ICD9:759.89|GARD:0003212|Orphanet:1297|DOID:0050691|ICD10:Q18.8|SCTID:449821007|OMIM:113620 https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome owl:Class UBERON:0007684 biolink:NamedThing uriniferous tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004819 biolink:NamedThing kidney epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021640 biolink:NamedThing grade III glioma A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. tmpte7i6ely_mondo_relaxed.owl anaplastic glioma|WHO grade III glioma NCIT:C127816|UMLS:C4287997 owl:Class MONDO:0007753 biolink:NamedThing Frey syndrome An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) tmpte7i6ely_mondo_relaxed.owl HYPRG|Baillarger syndrome|hyperhidrosis gustatory|Frey's syndrome|gustatory sweating|Frey syndrome|auriculotemporal nerve syndrome|hyperhidrosis, gustatory|gustatory hyperhidrosis OMIM:144100|DOID:11599|GARD:0006467|MESH:D013547|EFO:1000940|SCTID:238758008 owl:Class UBERON:0003567 biolink:NamedThing abdomen connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6298 biolink:NamedThing KCNQ4 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001021 biolink:NamedThing kidney loop of Henle descending limb epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001053 cell owl:Class CL:1000909 biolink:NamedThing kidney loop of Henle epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001047 cell owl:Class MONDO:0030483 biolink:NamedThing immunodeficiency 88 tmpte7i6ely_mondo_relaxed.owl IMD88 OMIM:619630 owl:Class MONDO:0003182 biolink:NamedThing anterior horn disorder Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. tmpte7i6ely_mondo_relaxed.owl disease or disorder of ventral horn of spinal cord|disorder of ventral horn of spinal cord|ventral horn of spinal cord disease|disease of ventral horn of spinal cord|ventral horn of spinal cord disease or disorder ICD9:335.9|ICD9:335|DOID:4873 TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND owl:Class GO:0051352 biolink:NamedThing negative regulation of ligase activity Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpte7i6ely_mondo_relaxed.owl ligase inhibitor|down regulation of ligase activity|downregulation of ligase activity|down-regulation of ligase activity|inhibition of ligase activity owl:Class MONDO:0023148 biolink:NamedThing fetal phenothiazine syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002311 https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome owl:Class MONDO:0010490 biolink:NamedThing SSR4-CDG A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28). tmpte7i6ely_mondo_relaxed.owl CDG-Iy|congenital disorder of glycosylation type 1y|carbohydrate deficient glycoprotein syndrome type Iy|CDG syndrome type Iy|CDG Iy|congenital disorder of glycosylation, type Iy|CDG 1Y|congenital disorder of glycosylation type Iy|CDGIy|CDG1Y UMLS:C4012395|GARD:0012405|SCTID:733115009|ICD10:E77.8|Orphanet:370927|OMIM:300934|DOID:0070257 owl:Class GO:0046488 biolink:NamedThing phosphatidylinositol metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. tmpte7i6ely_mondo_relaxed.owl phosphoinositide metabolism|PtdIns metabolic process|phosphatidylinositol metabolism|PtdIns metabolism|phosphoinositide metabolic process owl:Class CL:0000233 biolink:NamedThing platelet A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. tmpte7i6ely_mondo_relaxed.owl blood platelet|enucleate thrombocyte|anucleate thrombocyte FMA:62851|BTO:0000132|CALOHA:TS-0803 Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. cell owl:Class NCBITaxon:481 biolink:NamedThing Neisseriaceae tmpte7i6ely_mondo_relaxed.owl Vitreoscillaceae PMID:8347509|PMID:16350128|PMID:13983561|GC_ID:11|PMID:23575986 ncbi_taxonomy owl:Class NCBITaxon:206351 biolink:NamedThing Neisseriales tmpte7i6ely_mondo_relaxed.owl PMID:16403855|GC_ID:11|PMID:23575986 ncbi_taxonomy owl:Class UBERON:0012071 biolink:NamedThing palate bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033369 biolink:NamedThing developmental and epileptic encephalopathy, 60 tmpte7i6ely_mondo_relaxed.owl EIEE60|epileptic encephalopathy, early infantile, 60|DEE60 UMLS:CN244549|OMIM:617929|DOID:0080432 owl:Class MONDO:0033047 biolink:NamedThing Perrault syndrome 6 tmpte7i6ely_mondo_relaxed.owl Perrault syndrome 6|PRLTS6 Orphanet:2855|OMIM:617565|UMLS:C4479656|DOID:0080256 owl:Class UBERON:0006957 biolink:NamedThing submandibular gland primordium epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001411 biolink:NamedThing structured A structural quality inhering in a bearer by virtue of the bearer's having distinct structure. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001694 biolink:NamedThing decreased viscosity A viscosity which relatively low. tmpte7i6ely_mondo_relaxed.owl low viscosity owl:Class PATO:0000998 biolink:NamedThing viscous A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017806 biolink:NamedThing 15q overgrowth syndrome 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.3|OMIM:614846|Orphanet:314585|UMLS:CN203769 owl:Class UBERON:0007354 biolink:NamedThing cartilage of pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032091 biolink:NamedThing negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. tmpte7i6ely_mondo_relaxed.owl downregulation of protein binding|down regulation of protein binding|inhibition of protein binding|down-regulation of protein binding owl:Class HGNC:32456 biolink:NamedThing ALG11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013481 biolink:NamedThing chromosome 13q14 deletion syndrome Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. tmpte7i6ely_mondo_relaxed.owl chromosome 13q14 deletion syndrome|monosomy 13q14|chromosome 13Q deletion syndrome|Del(13)(q14)|del(13q14)|monosomy type 13q14|deletion 13q14 NCIT:C36421|ICD10:Q93.5|DOID:0060391|MESH:C535484|Orphanet:1587|OMIM:613884 owl:Class MONDO:0016911 biolink:NamedThing partial deletion of the long arm of chromosome 13 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13. tmpte7i6ely_mondo_relaxed.owl 13q monosomy|del(13q)|chromosome 13q deletion|partial monosomy of the long arm of chromosome 13|13q deletion|partial deletion of the long arm of chromosome type 13|partial deletion of chromosome 13q|loss of chromosome 13q|partial monosomy of chromosome 13q|monosomy 13q|deletion 13q ICD10:Q93.5|Orphanet:262101|GARD:0001738|MESH:C535449|NCIT:C36497 owl:Class MONDO:0004102 biolink:NamedThing columnar cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. tmpte7i6ely_mondo_relaxed.owl columnar cell variant papillary carcinoma|columnar cell variant thyroid gland papillary carcinoma|columnar cell variant papillary thyroid gland carcinoma ICDO:8344/3|UMLS:C1333120|NCIT:C35830|DOID:7088 owl:Class MONDO:0009543 biolink:NamedThing prominent glabella-microcephaly-hypogenitalism syndrome Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. tmpte7i6ely_mondo_relaxed.owl prominent glabella microcephaly hypogenitalism|MacDermot-Winter syndrome|Mac Dermot Winter syndrome ICD10:Q87.8|UMLS:C0796024|OMIM:247990|MESH:C537714|GARD:0000144|Orphanet:2083 https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome owl:Class MONDO:0015537 biolink:NamedThing necrobiotic xanthogranuloma A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement. tmpte7i6ely_mondo_relaxed.owl NXG SCTID:404164003|EFO:1001376|UMLS:C1275339|ICD9:709.8|GARD:0010951|MESH:D058252|Orphanet:158011|ICD10:D76.3 https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma owl:Class MONDO:0006514 biolink:NamedThing recalcitrant atopic dermatitis Moderate to severe atopic dermatitis with allergic sensitisation. tmpte7i6ely_mondo_relaxed.owl EFO:1000651|PMID:25935106 owl:Class FOODON:03400652 biolink:NamedThing 04 nuts and seeds (ccpr) TYPE 04 - NUTS AND SEEDS Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated. The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0652 http://langual.org owl:Class FOODON:03400644 biolink:NamedThing a. primary food commodities of plant origin (ccpr) tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0644 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class UBERON:0006068 biolink:NamedThing bone of tail tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016187 biolink:NamedThing qualitative or quantitative defects of desmin tmpte7i6ely_mondo_relaxed.owl Orphanet:209041 owl:Class MONDO:0018571 biolink:NamedThing contractures-developmental delay-Pierre Robin syndrome tmpte7i6ely_mondo_relaxed.owl 5q23 microdeletion syndrome Orphanet:436003|ICD10:Q87.0|UMLS:CN237584 owl:Class HGNC:603 biolink:NamedThing APOB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016146 biolink:NamedThing caveolinopathy A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of caveolin-3 UMLS:CN043575|Orphanet:207078 owl:Class CL:1000312 biolink:NamedThing bronchial goblet cell A goblet cell that is part of the epithelium of bronchus. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of bronchus FMA:263032 cell owl:Class MONDO:0014222 biolink:NamedThing immunodeficiency 14 tmpte7i6ely_mondo_relaxed.owl immunodeficiency type 14|Activated PI3K-Delta syndrome|p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|IMD14|immunodeficiency 14 Orphanet:397596|UMLS:C3714976|OMIM:615513 owl:Class MONDO:0018338 biolink:NamedThing activated PI3K-delta syndrome tmpte7i6ely_mondo_relaxed.owl senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|APDS Orphanet:397596|ICD10:D81.8|ICD9:279.8|UMLS:C3714976|OMIM:615513|SCTID:711480000|GARD:0011983|OMIM:616005 owl:Class MONDO:0019195 biolink:NamedThing hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. tmpte7i6ely_mondo_relaxed.owl Inclusion body myopathy autosomal dominant|IBM3|Hereditary inclusion body myopathy type 3|Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|HIBM3|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|hereditary inclusion body myopathy type 3|inclusion body myopathy type 3 OMIM:605637|GARD:0009494|Orphanet:79091|ICD10:G71.8|SCTID:724349009|UMLS:CN205775 owl:Class MONDO:0016112 biolink:NamedThing inclusion myopathy tmpte7i6ely_mondo_relaxed.owl cytoplasmic body myopathy Orphanet:206662|GARD:0001658|ICD10:G71.8 https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy owl:Class UBERON:0009652 biolink:NamedThing bronchus basement membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014826 biolink:NamedThing nucleoside diphosphate-linked moiety X Motif 15 deficiency tmpte7i6ely_mondo_relaxed.owl THPM2|nucleoside diphosphate-linked moiety X Motif 15 deficiency|NUDT15D|Thiopurines, poor metabolism Of, 2|THIOPURINES, poor metabolism OF, 2|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D|Nudt15 deficiency 2022-04-01 UMLS:C4225160|OMIM:616903 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0000210 biolink:NamedThing thiopurine metabolic disease tmpte7i6ely_mondo_relaxed.owl OMIMPS:610460 owl:Class MONDO:0017552 biolink:NamedThing humero-ulnar synostosis, unilateral tmpte7i6ely_mondo_relaxed.owl humero-ulnar fusion, unilateral Orphanet:295213|ICD10:Q74.0 owl:Class MONDO:0019782 biolink:NamedThing humero-ulnar synostosis tmpte7i6ely_mondo_relaxed.owl humero-ulnar fusion Orphanet:94056|ICD10:Q74.0 owl:Class ENVO:02500014 biolink:NamedThing forest process tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001795 biolink:NamedThing ecosystem process An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034219 biolink:NamedThing carbohydrate transmembrane transport The process in which a carbohydrate is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl carbohydrate membrane transport|transmembrane carbohydrate transport owl:Class GO:0055085 biolink:NamedThing transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl ATP hydrolysis coupled transmembrane transport|membrane transport owl:Class MONDO:0002811 biolink:NamedThing main bronchus cancer A malignant neoplasm involving the main bronchus. tmpte7i6ely_mondo_relaxed.owl main bronchus cancer|malignant neoplasm of main bronchus|cancer of main bronchus|Ca main bronchus|malignant main bronchus neoplasm ICD9:162.2|UMLS:C0153490|SCTID:372065009|ICD10:C34.0|DOID:3924 owl:Class MONDO:0021244 biolink:NamedThing submandibular gland neoplasm A neoplasm (disease) that involves the submandibular gland. tmpte7i6ely_mondo_relaxed.owl neoplasm of the submandibular gland|submandibular gland neoplasm (disease)|tumor of the submandibular gland|neoplasm of submandibular gland|tumor of submandibular gland|submandibular gland tumor SCTID:254464000|UMLS:C0038558|EFO:1001853|MESH:D013365|NCIT:C3393 owl:Class MONDO:0032807 biolink:NamedThing neurodevelopmental disorder with visual defects and brain anomalies tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES|NEDVIBA OMIM:618547 owl:Class UBERON:0015215 biolink:NamedThing median arcuate ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015214 biolink:NamedThing arcuate ligament tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000830 biolink:NamedThing positive regulation of parathyroid hormone secretion Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion. tmpte7i6ely_mondo_relaxed.owl positive regulation of parathyrin secretion|positive regulation of parathormone secretion|positive regulation of PTH secretion owl:Class MONDO:0016603 biolink:NamedThing citrullinemia type II Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. tmpte7i6ely_mondo_relaxed.owl adult-onset type II citrullinemia|citrullinemia type II|adult-onset citrin deficiency|adult-onset type 2 citrullinemia|citrullinemia type 2|CTLN2 ICD10:E72.2|SCTID:716863007|DOID:0070342|Orphanet:247585|NCIT:C150603|OMIM:603471 owl:Class MONDO:0016602 biolink:NamedThing citrin deficiency Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). tmpte7i6ely_mondo_relaxed.owl citrin deficiency SCTID:429735007|ICD10:E72.2|UMLS:C1997910|Orphanet:247582 owl:Class HGNC:1041 biolink:NamedThing BFSP2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:43351 biolink:NamedThing Dientamoeba tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:740973 biolink:NamedThing Dientamoebidae tmpte7i6ely_mondo_relaxed.owl Protrichomonadinae GC_ID:1 NCBITaxon:135586 ncbi_taxonomy owl:Class HP:0006919 biolink:NamedThing Abnormal aggressive, impulsive or violent behavior tmpte7i6ely_mondo_relaxed.owl Aggressive/violent behaviour|Aggressive/violent behavior|Abnormal aggressive, impulsive or violent behaviour UMLS:C4024963 human_phenotype owl:Class HP:0100851 biolink:NamedThing Abnormal emotion/affect behavior An abnormality of emotional behaviour. tmpte7i6ely_mondo_relaxed.owl Abnormal emotion/affect behaviour UMLS:C4020949 doelkens 2011-06-23T11:07:13Z human_phenotype owl:Class CHEBI:52211 biolink:NamedThing physiological role tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048243 biolink:NamedThing norepinephrine secretion The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system. tmpte7i6ely_mondo_relaxed.owl noradrenaline secretion owl:Class GO:0015874 biolink:NamedThing norepinephrine transport The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. tmpte7i6ely_mondo_relaxed.owl levarterenol transport|noradrenaline transport owl:Class MONDO:0011833 biolink:NamedThing spinocerebellar ataxia type 21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 21|spinocerebellar ataxia type 21|SCA21 MESH:C537200|UMLS:C1843891|SCTID:718774001|UMLS:C4305144|DOID:0050972|OMIM:607454|GARD:0009999|Orphanet:98773|ICD10:G11.1 owl:Class MONDO:0054750 biolink:NamedThing amyotrophic lateral sclerosis, susceptibility to, 24 tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis, susceptibility to, 24|ALS24 UMLS:CN842244|OMIM:617892 owl:Class MONDO:0021156 biolink:NamedThing hypophysitis Inflammation of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl pituitary gland inflammation|gland, pituitary|pituitary gland|pituitary|hypophysitides|nervous system, pituitary|hypophysis cerebri|inflammation of pituitary gland|hypophysis SCTID:237705001|UMLS:C0342409|NCIT:C12399|MESH:D000072659 Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/ owl:Class MONDO:0025484 biolink:NamedThing simian acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus. tmpte7i6ely_mondo_relaxed.owl Simian acquired immune deficiency syndrome|Simian acquired immuno-deficiency syndrome|Simian AIDS|AIDSs, Simian|Simian immunodeficiency virus monkey disease|AIDS, Simian|SAIDS|Simian acquired immuno deficiency syndrome|Simian AIDSs|Simian immunodeficiency virus caused monkey disease UMLS:C0080151|MESH:D016097 owl:Class MONDO:0025102 biolink:NamedThing monkey disease Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases). tmpte7i6ely_mondo_relaxed.owl diseases, monkey|monkey disease|disease, monkey MESH:D008992 owl:Class GO:0045986 biolink:NamedThing negative regulation of smooth muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction. tmpte7i6ely_mondo_relaxed.owl smooth muscle relaxation|downregulation of smooth muscle contraction|down regulation of smooth muscle contraction|down-regulation of smooth muscle contraction|inhibition of smooth muscle contraction owl:Class GO:0006940 biolink:NamedThing regulation of smooth muscle contraction Any process that modulates the frequency, rate or extent of smooth muscle contraction. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000167 biolink:NamedThing oral cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005990 biolink:NamedThing aortic valve cusp tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006009 biolink:NamedThing cusp of cardiac valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014917 biolink:NamedThing developmental and epileptic encephalopathy, 42 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. tmpte7i6ely_mondo_relaxed.owl CACNA1A early infantile epileptic encephalopathy|DEE42|early infantile epileptic encephalopathy caused by mutation in CACNA1A|epileptic encephalopathy, early infantile, type 42|epileptic encephalopathy, early infantile, 42|EIEE42|epileptic encephalopathy, early infantile, 42; EIEE42 DOID:0080454|OMIM:617106|UMLS:C4310716 owl:Class UBERON:0001469 biolink:NamedThing sternoclavicular joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005689 biolink:NamedThing 2nd arch mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025381 biolink:NamedThing avian leukosis A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. tmpte7i6ely_mondo_relaxed.owl leukosis, Avian|Avian Leukoses|leukoses, Avian MESH:D001353|UMLS:C0004421 owl:Class MONDO:0001877 biolink:NamedThing infertility due to extratesticular cause tmpte7i6ely_mondo_relaxed.owl infertility due to extratesticular causes DOID:14096|UMLS:C0021360|SCTID:84245004|ICD9:606.8 owl:Class MONDO:0007739 biolink:NamedThing Huntington disease Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. tmpte7i6ely_mondo_relaxed.owl Huntington chorea|Huntington disease|Huntington's chorea|HD|Huntington's disease Orphanet:248111|ICD10:G10|MedDRA:10070668|SCTID:58756001|GARD:0006677|UMLS:C0020179|OMIM:143100|ICD9:333.4|KEGG:05016|NCIT:C82342|Orphanet:399|DOID:12858 owl:Class GO:0050806 biolink:NamedThing positive regulation of synaptic transmission Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpte7i6ely_mondo_relaxed.owl activation of synaptic transmission|up-regulation of synaptic transmission|stimulation of synaptic transmission|up regulation of synaptic transmission|upregulation of synaptic transmission owl:Class UBERON:0011847 biolink:NamedThing acinus of parotid gland tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:39467 biolink:NamedThing thiadiazole tmpte7i6ely_mondo_relaxed.owl thiadiazole owl:Class CHEBI:35555 biolink:NamedThing mancude organic heteromonocyclic parent tmpte7i6ely_mondo_relaxed.owl mancude organic heteromonocyclic parents|mancude-ring organic heteromonocyclic parents owl:Class MONDO:0008195 biolink:NamedThing paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). tmpte7i6ely_mondo_relaxed.owl paramyotonia congenita of Von Eulenburg|paralysis periodica Paramyotonica|myotonia congenita intermittens|paramyotonia congenita|paramyotonia congenita of VON Eulenburg|Eulenburg disease|Von Eulenburg paramyotonia congenita|PMC|paramyotonia congenita without cold paralysis NCIT:C122790|DOID:0111538|OMIM:168300|GARD:0007325|Orphanet:684|ICD10:G71.1|ICD9:359.29|SCTID:41574007 owl:Class UBERON:0001328 biolink:NamedThing lobe of prostate tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001200 biolink:NamedThing positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012724 biolink:NamedThing familial cold autoinflammatory syndrome 2 An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. tmpte7i6ely_mondo_relaxed.owl familial cold autoinflammatory syndrome 2|NALP12-associated hereditary periodic fever syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRP12|NLRP12-associated hereditary periodic fever syndrome|NLRP12 familial cold autoinflammatory syndrome|FCAS2|NAPS12|familial cold autoinflammatory syndrome type 2 UMLS:C2673198|ICD10:E85.0|Orphanet:247868|MESH:C567090|UMLS:C3897034|DOID:0090063|NCIT:C119043|OMIM:611762 owl:Class MONDO:0004843 biolink:NamedThing pathologic nystagmus Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders. tmpte7i6ely_mondo_relaxed.owl DOID:9650|UMLS:C0028738|NCIT:C3282|MESH:D009759|ICD10:H55.0|ICD9:379.50|ICD10:H55.00 owl:Class MONDO:0002201 biolink:NamedThing vulvar trichoepithelioma A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin. tmpte7i6ely_mondo_relaxed.owl trichoblastoma of mammalian vulva|vulvar trichoblastoma|mammalian vulva trichoblastoma|vulvar trichoepithelioma UMLS:C1520100|DOID:2080|NCIT:C40314 owl:Class MONDO:0020593 biolink:NamedThing trichoblastoma A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty. tmpte7i6ely_mondo_relaxed.owl trichogenic trichoblastoma|Brooke's tumor|trichoblastoma|trichoepithelioma|trichogenic adnexal tumor|trichoepithelioma, benign NCIT:C27132|ICDO:8100/0 owl:Class MONDO:0010447 biolink:NamedThing intellectual disability, X-linked 19 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked type 19|RPS6KA3 non-syndromic X-linked intellectual disability|mental retardation, X-linked 19|intellectual disability, X-linked 19|non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3|intellectual disability, X-linked type 19|MRX19 UMLS:C0796225|OMIM:300844|MESH:C563141|Orphanet:777 owl:Class MONDO:0008970 biolink:NamedThing chondrodysplasia Blomstrand type Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia, Blomstrand type|Blomstrand osteochondrodysplasia|Blomstrand chondrodysplasia|BLC|Blomstrand's lethal chondrodysplasia|Blomstrand lethal osteochondrodysplasia|Blomstrand type chondrodysplasia|Blomstrand lethal chondrodysplasia|BOCD NCIT:C131420|GARD:0000914|MESH:C537914|OMIM:215045|ICD10:Q78.8|Orphanet:50945|UMLS:C1859148|DOID:0060387 https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type owl:Class HGNC:5724 biolink:NamedThing RBPJ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012752 biolink:NamedThing aneurysm, intracranial berry, 6 tmpte7i6ely_mondo_relaxed.owl aneurysm, intracranial BERRY, 6|ANIB6 OMIM:611892|MESH:C567500|UMLS:C2678469 owl:Class CL:0002591 biolink:NamedThing smooth muscle cell of the pulmonary artery A smooth muscle of the pulmonary artery. tmpte7i6ely_mondo_relaxed.owl BTO:0003336 tmeehan 2011-03-06T05:01:28Z cell owl:Class MONDO:0012561 biolink:NamedThing congenital anomalies of kidney and urinary tract 1 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. tmpte7i6ely_mondo_relaxed.owl CAKUT1|congenital anomalies of kidney and urinary tract 1|renal hypodysplasia, nonsyndromic, 1|congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|DSTYK congenital anomaly of kidney and urinary tract OMIM:610805|MESH:C563661|UMLS:C1835826|DOID:0080206 owl:Class MONDO:0019719 biolink:NamedThing congenital anomaly of kidney and urinary tract A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. tmpte7i6ely_mondo_relaxed.owl congenital anomalies of the kidney and urinary tract|congenital anomaly of kidney and urinary tract|CAKUT|congenital anomalies of kidney and urinary tract|renal or urinary tract malformation MESH:C566906|Orphanet:93545|DOID:0080205|OMIMPS:610805|UMLS:C1968949 owl:Class NCBITaxon:186802 biolink:NamedThing Eubacteriales tmpte7i6ely_mondo_relaxed.owl Clostridiales PMID:16558750|GC_ID:11|PMID:24480908 ncbi_taxonomy owl:Class NCBITaxon:640628 biolink:NamedThing Poinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1652081 biolink:NamedThing Poeae Chloroplast Group 2 (Poeae type) tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004948 biolink:NamedThing submucosa of left main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004949 biolink:NamedThing submucosa of main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008720 biolink:NamedThing congenital isolated adrenocorticotropic hormone deficiency A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. tmpte7i6ely_mondo_relaxed.owl congenital isolated ACTH deficiency|isolated ACTH deficiency|IAD|congenital isolated adrenocorticotropic hormone deficiency (disease)|adrenocorticotropic hormone deficiency|ACTH deficiency, isolated|isolated adrenocorticotropic hormone deficiency congenital isolated adrenocorticotropic hormone deficiency (disease) DOID:0080150|SCTID:237692001|Orphanet:199296|EFO:1001979|GARD:0005727|MESH:C535668|OMIM:201400|HP:0011748|ICD10:E23.6|ICD9:255.41|UMLS:C0342388 owl:Class MONDO:0016553 biolink:NamedThing isolated congenital hypogonadotropic hypogonadism A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic congenital hypogonadotropic hypogonadism ICD10:E23.0|Orphanet:238666|UMLS:CN924907 owl:Class MONDO:0025412 biolink:NamedThing feline panleukopenia A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus. tmpte7i6ely_mondo_relaxed.owl ataxias, Feline|Feline agranulocytosis|Feline Panleukopenias|fevers, show|Panleukopenias, Feline|show fever|Feline Agranulocytoses|infectious enteritis, Feline|fever, show|show fevers|distemper, Feline|plagues, Cat|plague, Cat|Feline ataxia|Feline infectious enteritis|Feline Distempers|agranulocytosis, Feline|Panleukopenia, Feline|enteritis, Feline infectious|Cat Plagues|agranulocytoses, Feline|Feline distemper|Feline Ataxias|Cat plague|ataxia, Feline|Feline infectious Enteritides|enteritides, Feline infectious|infectious Enteritides, Feline|distempers, Feline MESH:D005254|UMLS:C0015765 owl:Class UBERON:0007252 biolink:NamedThing intervertebral disk of cervical vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38166 biolink:NamedThing organic heteropolycyclic compound tmpte7i6ely_mondo_relaxed.owl organic heteropolycyclic compounds owl:Class CHEBI:33671 biolink:NamedThing heteropolycyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. tmpte7i6ely_mondo_relaxed.owl polyheterocyclic compounds|heteropolycyclic compounds owl:Class MONDO:0019683 biolink:NamedThing syndactyly type 2 Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. tmpte7i6ely_mondo_relaxed.owl synpolydactyly|SPD 2022-04-01 OMIM:186000|MESH:C538153|OMIM:610234|GARD:0005087|SCTID:715724002|ICD10:Q70.2|OMIM:608180|Orphanet:93403|ICD10:Q70.0 Reason: duplicate. This will be merged with MONDO:0021651 synpolydactyly owl:Class MONDO:0015987 biolink:NamedThing scimitar syndrome Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. tmpte7i6ely_mondo_relaxed.owl Epibronchial right pulmonary vein syndrome|congenital pulmonary venolobar syndrome|hypogenetic lung syndrome|Halasz syndrome ICD9:747.49|SCTID:39905002|MedDRA:10051951|MESH:D012587|Orphanet:185|UMLS:C0036400|NCIT:C85056|ICD10:Q26.8 owl:Class HP:0020219 biolink:NamedThing Motor seizure A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. tmpte7i6ely_mondo_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. robinp 2020-02-24T14:20:36Z human_phenotype owl:Class MONDO:0002006 biolink:NamedThing serous labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. tmpte7i6ely_mondo_relaxed.owl acute serous labyrinthitis DOID:1467|ICD9:386.31|UMLS:C0155504|SCTID:41674001 owl:Class NCBITaxon:1648038 biolink:NamedThing Triticodae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147368 biolink:NamedThing Pooideae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0002861 biolink:NamedThing regulation of inflammatory response to antigenic stimulus Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002517 biolink:NamedThing tenosynovitis of foot and ankle tmpte7i6ely_mondo_relaxed.owl ICD9:727.06|DOID:312 owl:Class MONDO:0054701 biolink:NamedThing Kleefstra syndrome 2 tmpte7i6ely_mondo_relaxed.owl Kleefstra syndrome 2|KLEFS2 OMIM:617768|DOID:0080598 owl:Class MONDO:0025453 biolink:NamedThing pneumonia, progressive interstitial, of sheep Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity. tmpte7i6ely_mondo_relaxed.owl progressive interstitial pneumonia of sheep|Maedi UMLS:C0032306|MESH:D011021 owl:Class UBERON:0005048 biolink:NamedThing mucosa of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:54292 biolink:NamedThing Apodemus flavicollis tmpte7i6ely_mondo_relaxed.owl Yellow-necked field mouse|Sylvaemus flavicollis GC_ID:1 ncbi_taxonomy owl:Class CHEBI:35868 biolink:NamedThing hydroxy monocarboxylic acid Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent. tmpte7i6ely_mondo_relaxed.owl hydroxy acid|hydroxy monocarboxylic acids owl:Class MONDO:0020076 biolink:NamedThing myeloproliferative neoplasm A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) tmpte7i6ely_mondo_relaxed.owl myeloproliferative neoplasm, chronic|myeloproliferative disorder|myeloproliferative tumor|CMPD|CMPD, U|myeloproliferative neoplasm|chronic myeloproliferative disease|chronic myeloproliferative disorders|chronic myeloproliferative disorder|MPD|chronic myeloproliferative neoplasm|myeloproliferative neoplasms|MPN UMLS:C1292778|OMIM:131440|MedDRA:10028576|ICD10:D47.1|SCTID:425333006|ONCOTREE:MPN|DOID:2226|EFO:0004251|GARD:0009319|NCIT:C4345|ICDO:9960/3|NCIT:C103126|ICDO:9975/1|EFO:0002428|Orphanet:98274|ICD9:238.79 owl:Class MONDO:0012375 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 47 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 47|deafness, neurosensory, autosomal recessive 47|autosomal recessive nonsyndromic deafness 47|deafness, autosomal recessive 47|autosomal recessive deafness 47|DFNB47 OMIM:609946|MESH:C566498|UMLS:C1864964|ICD10:H90.3|GARD:0009935|DOID:0110504 owl:Class MONDO:0011213 biolink:NamedThing Pierpont syndrome Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. tmpte7i6ely_mondo_relaxed.owl plantar lipomatosis-facial dysmorphism-developmental delay syndrome|PRPTS|plantar lipomatosis-unusual facies-developmental delay syndrome|plantar lipomatosis, unusual facies, and developmental delay|Pierpont syndrome|PIERPONT syndrome MESH:C566559|UMLS:C1865644|OMIM:602342|Orphanet:487825 owl:Class CHEBI:30742 biolink:NamedThing ethylene glycol A 1,2-glycol compound produced via reaction of ethylene oxide with water. tmpte7i6ely_mondo_relaxed.owl 1,2-Ethanediol|ethane-1,2-diol|Ethylene glycol|Ethanediol|ethylene glycol|Glycol|1,2-ETHANEDIOL|Monoethylene glycol|HO-CH2-CH2-OH|2-Hydroxyethanol|1,2-Dihydroxyethane owl:Class CHEBI:13643 biolink:NamedThing glycol A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent. tmpte7i6ely_mondo_relaxed.owl glycols|Glykol owl:Class UBERON:0001141 biolink:NamedThing right renal vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001140 biolink:NamedThing renal vein tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044065 biolink:NamedThing regulation of respiratory system process Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903035 biolink:NamedThing negative regulation of response to wounding Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding. tmpte7i6ely_mondo_relaxed.owl down regulation of physiological response to wounding|downregulation of physiological response to wounding|downregulation of response to wounding|down regulation of response to wounding|inhibition of physiological response to wounding|down-regulation of response to wounding|negative regulation of physiological response to wounding|inhibition of response to wounding|down-regulation of physiological response to wounding owl:Class GO:0045649 biolink:NamedThing regulation of macrophage differentiation Any process that modulates the frequency, rate or extent of macrophage differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021580 biolink:NamedThing neoplasm of jaw A neoplasm (disease) that involves the jaw skeleton. tmpte7i6ely_mondo_relaxed.owl jaw skeleton neoplasm|tumor of jaw skeleton|jaw skeleton neoplasm (disease)|jaw skeleton tumor|neoplasm of jaw skeleton ICD9:239.89|SCTID:126634001 owl:Class NCBITaxon:53436 biolink:NamedThing Treponema pallidum subsp. endemicum tmpte7i6ely_mondo_relaxed.owl Treponema pallidum endemicum GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:160 biolink:NamedThing Treponema pallidum tmpte7i6ely_mondo_relaxed.owl Spirillum pallidum|Spirochaeta pallida|Microspironema pallidum|Spironema pallidum GC_ID:11 ncbi_taxonomy owl:Class MONDO:0018053 biolink:NamedThing trichothiodystrophy Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). tmpte7i6ely_mondo_relaxed.owl trichothiodystrophy syndrome NCIT:C4924|OMIM:616395|UMLS:C1955934|ICD10:L67.8|OMIM:616943|OMIM:616390|MedDRA:10044628|OMIM:300953|OMIM:601675|OMIMPS:601675|OMIM:234050|Orphanet:33364|SCTID:723551003|GARD:0012109 owl:Class FOODON:00001907 biolink:NamedThing gluten refined food product tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00002131 biolink:NamedThing plant based refined or partially-refined food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032761 biolink:NamedThing hearing loss, autosomal recessive 114 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 114|DFNB114 OMIM:618456|DOID:0111642 owl:Class GO:0071333 biolink:NamedThing cellular response to glucose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071331 biolink:NamedThing cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140513 biolink:NamedThing nuclear protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus. tmpte7i6ely_mondo_relaxed.owl nuclear complex owl:Class HGNC:6008 biolink:NamedThing IL2RA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100083 biolink:NamedThing hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. tmpte7i6ely_mondo_relaxed.owl hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|platelet disorder, familial, with associated myeloid malignancy|familial platelet syndrome with predisposition to acute myelogenous leukemia|asprin-like platelet disorder|FPDMM|familial platelet disorder with associated myeloid malignancy|FPS/AML syndrome|familial thrombocytopenia with propensity to acute myelogenous leukemia|FPD/AML syndrome|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|platelet disorder, aspirin-like OMIM:601399 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0003289 biolink:NamedThing deep leiomyoma A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl deep leiomyoma NCIT:C6512|DOID:5128|UMLS:C1333266 owl:Class ECTO:0000163 biolink:NamedThing exposure to organic cyclic compound An exposure to organic cyclic compound. tmpte7i6ely_mondo_relaxed.owl exposure to organic cyclic compound owl:Class UBERON:0034724 biolink:NamedThing esophageal taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19286 biolink:NamedThing SCYL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015491 biolink:NamedThing immune complex mediated vasculitis tmpte7i6ely_mondo_relaxed.owl Orphanet:156149 owl:Class MONDO:0015490 biolink:NamedThing predominantly small-vessel vasculitis tmpte7i6ely_mondo_relaxed.owl Orphanet:156146 owl:Class MONDO:0001661 biolink:NamedThing background diabetic retinopathy An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. tmpte7i6ely_mondo_relaxed.owl non-proliferative diabetic retinopathy|non proliferative diabetic retinopathy ICD9:362.01|ICD9:362.03|NCIT:C34408|UMLS:C0004606|NCIT:C35668|DOID:13208|SCTID:390834004 owl:Class MONDO:0009133 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, mental retardation and dysequlibrium syndrome|non-progressive cerebellar ataxia-intellectual disability syndrome|CAMRQ|VLDLRCH|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|CAMRQ syndrome|cerebellar disorder, nonprogressive, with mental retardation|DES|dysequilibrium syndrome|cerebellar hypoplasia, VLDLR associated|cerebellar ataxia, mental retardation, and dysequilibrium|dialysis dysequilibrium syndrome SCTID:230782004|DOID:0050997|GARD:0001998|OMIM:615268|Orphanet:1766|OMIMPS:224050|MESH:C535731|NCIT:C114781|OMIM:613227|ICD10:G11.8|OMIM:610185|MedDRA:10013140|OMIM:224050 https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome owl:Class MONDO:0022938 biolink:NamedThing deafness goiter stippled epiphyses tmpte7i6ely_mondo_relaxed.owl GARD:0001689 https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses owl:Class MONDO:0013356 biolink:NamedThing vesicoureteral reflux 3 Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene. tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux (disease) caused by mutation in SOX17|VUR3|SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux type 3|vesicoureteral reflux 3 OMIM:613674|Orphanet:289365|UMLS:C3150927 owl:Class MONDO:0017329 biolink:NamedThing familial vesicoureteral reflux Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. tmpte7i6ely_mondo_relaxed.owl familial VUR|hereditary vesicoureteral reflux (disease) Orphanet:289365|OMIM:615390|OMIM:610878|ICD10:N13.7|OMIM:614674|OMIMPS:193000|SCTID:763716008|OMIM:614318|OMIM:193000|OMIM:614317|UMLS:CN202969|OMIM:614319|OMIM:314550|OMIM:613674|OMIM:615963 owl:Class MONDO:0016611 biolink:NamedThing lipoblastoma A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. tmpte7i6ely_mondo_relaxed.owl fetal lipoma|embryonic lipoma|infantile lipoma GARD:0012015|NCIT:C27483|Orphanet:247762|MESH:D062689|SCTID:400102008|UMLS:C1260965 https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma owl:Class MONDO:0044983 biolink:NamedThing benign lipomatous neoplasm A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. tmpte7i6ely_mondo_relaxed.owl benign tumor of the adipose tissue|benign adipose tissue neoplasm|adipose tissue benign connective and soft tissue neoplasm|benign neoplasm of the adipose tissue|benign connective and soft tissue neoplasm of adipose tissue|benign lipomatous neoplasm|benign adipose tissue tumor|benign lipomatous tumor|benign neoplasm of adipose tissue|benign tumor of adipose tissue NCIT:C4502 owl:Class MONDO:0001971 biolink:NamedThing farmer's lung disease Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. tmpte7i6ely_mondo_relaxed.owl Farmers lung|farmer's lung|farmer lung DOID:14453|Orphanet:99906|NCIT:C34605|ICD9:495.0|MedDRA:10016221|GARD:0006427|SCTID:18690003|UMLS:C0015634|ICD10:J67.0 https://rarediseases.info.nih.gov/diseases/6427/farmers-lung owl:Class MONDO:0020537 biolink:NamedThing occupational allergic alveolitis Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise tmpte7i6ely_mondo_relaxed.owl Orphanet:99909 owl:Class MONDO:0030912 biolink:NamedThing intellectual disability, autosomal dominant 47 tmpte7i6ely_mondo_relaxed.owl MRD47|intellectual disability, autosomal dominant 47|autosomal dominant mental retardation 47|autosomal dominant intellectual disability 47|STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|mental retardation, autosomal dominant 47 UMLS:CN429988|DOID:0080238|Orphanet:502434|OMIM:617635 owl:Class MONDO:0000342 biolink:NamedThing O'nyong'nyong fever An disease or disorder caused by infection with O'nyong-nyong virus. tmpte7i6ely_mondo_relaxed.owl O'nyong-nyong virus caused disease or disorder|O'nyong-nyong virus infectious disease|O'nyong-nyong virus disease or disorder SCTID:85579005|MEDGEN:547234|DOID:0050516|UMLS:C0276286|ICD10:A92.1 owl:Class MONDO:0002966 biolink:NamedThing splenic manifestation of prolymphocytic leukemia A prolymphocytic leukemia that involves the spleen. tmpte7i6ely_mondo_relaxed.owl splenic manifestation of prolymphocytic leukemia|spleen prolymphocytic leukemia|prolymphocytic leukemia of spleen NCIT:C7297|DOID:4334|UMLS:C1336066 owl:Class MONDO:0004107 biolink:NamedThing splenic manifestation of leukemia A leukemia (disease) that involves the spleen. tmpte7i6ely_mondo_relaxed.owl spleen leukemia (disease)|leukemia (disease) of spleen|splenic leukemia|splenic manifestation of leukemia UMLS:C1336065|NCIT:C7296|DOID:710 owl:Class MONDO:0007706 biolink:NamedThing cavernous hemangiomas of face-supraumbilical midline raphe syndrome tmpte7i6ely_mondo_relaxed.owl hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|hemangiomas cavernous of face supraumbilical midline raphe|sternal nonunion with supraumbilical raphe|raphe, supraumbilical Midline, with cavernous Facial hemangiomas|supraumbilical midabdominal raphe and facial cavernous hemangiomas OMIM:140850|UMLS:C0472694|Orphanet:2124|MESH:C538144|ICD10:D18.0|GARD:0008524|SCTID:234140000 owl:Class UBERON:0004637 biolink:NamedThing otic capsule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070133 biolink:NamedThing negative regulation of mitochondrial translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl negative regulation of mitochondrial translation initiation owl:Class MONDO:0032943 biolink:NamedThing neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies tmpte7i6ely_mondo_relaxed.owl NEDMACE|NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES OMIM:618829 owl:Class MONDO:0008945 biolink:NamedThing myoclonic cerebellar dyssynergia A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) tmpte7i6ely_mondo_relaxed.owl CPD5|progressive cerebellar tremor|cerebelloparenchymal disorder V|Spinodentate atrophy|Ramsay Hunt syndrome type 1|dyssynergia cerebellaris myoclonica of Hunt|cerebelloparenchymal disorder 5|Ramsay Hunt cerebellar syndrome|dyssynergia cerebellaris myoclonica|cerebelloparenchymal disorder type 5 EFO:1001053|DOID:12707|ICD10:G11.1|SCTID:73495003|UMLS:C0007761|OMIM:213400|MESH:D002527 owl:Class UBERON:0007650 biolink:NamedThing esophagogastric junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:1100000 biolink:NamedThing digestive tract junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016776 biolink:NamedThing frontal fibrosing alopecia Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. tmpte7i6ely_mondo_relaxed.owl FFA ICD10:L66.1|SCTID:717055000|GARD:0010886|Orphanet:254492|UMLS:C4255374 https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia owl:Class MONDO:0000104 biolink:NamedThing anemia, hypochromic microcytic with iron overload tmpte7i6ely_mondo_relaxed.owl anemia, hypochromic microcytic, with iron overload OMIMPS:206100|MESH:C567144|UMLS:C2673913 owl:Class MONDO:0004821 biolink:NamedThing nasopharyngeal disorder A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. tmpte7i6ely_mondo_relaxed.owl disease or disorder of nasopharynx|disorder of nasopharynx|nasopharyngeal disorder|disease of nasopharynx|disorder of postnasal space|nasopharynx disease or disorder|nasopharynx disease SCTID:123952009|UMLS:C0027438|NCIT:C35723|MESH:D009302|DOID:9561 owl:Class UBERON:0002925 biolink:NamedThing trigeminal nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004461 biolink:NamedThing skeletal musculature of head tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008229 biolink:NamedThing craniocervical region musculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021008 biolink:NamedThing secondary antiphospholipid syndrome An antiphospholipid syndrome that occurs alongside another autoimmune disorder. tmpte7i6ely_mondo_relaxed.owl UMLS:C0409983|ICD9:795.79|SCTID:239895006 owl:Class UBERON:0008837 biolink:NamedThing palmar/plantar part of autopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011250 biolink:NamedThing autopod bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011292 biolink:NamedThing dermatitis, atopic tmpte7i6ely_mondo_relaxed.owl Atod|dermatitis, atopic|dermatitis, Atopic, 1|eczema, Atopic OMIM:603165 owl:Class MONDO:0022715 biolink:NamedThing Chiari malformation type 3 tmpte7i6ely_mondo_relaxed.owl Chiari malformation type III|Arnold Chiari malformation type III|Chiari type III malformation SCTID:253186001|OMIM:118420|GARD:0009233 https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3 owl:Class MONDO:0000115 biolink:NamedThing Chiari malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. tmpte7i6ely_mondo_relaxed.owl (Arnold) Chiari malformation|Arnold-Chiari malformation|Chiari malformation NCIT:C84570|MESH:D001139|SCTID:253184003 Nomenclature of OMIM 118420 includes 207950 as another type. owl:Class UBERON:0012241 biolink:NamedThing male urethral meatus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018226 biolink:NamedThing pulmonary part of lymphatic system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016323 biolink:NamedThing chronic respiratory distress with surfactant metabolism deficiency tmpte7i6ely_mondo_relaxed.owl OMIM:610913|Orphanet:217566|ICD10:J84.8 owl:Class MONDO:0012580 biolink:NamedThing hereditary pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. tmpte7i6ely_mondo_relaxed.owl pulmonary alveolar proteinosis, congenital|hereditary pulmonary alveolar proteinosis|sufactant metabolism dysfunction, pulmonary|inborn error of pulmonary surfactant metabolism|congenital PAP|congenital pulmonary alveolar proteinosis ICD10:J84.0|GARD:0004582|OMIM:300770|MESH:C535832|Orphanet:217566|Orphanet:264675|UMLS:C2931035|SCTID:707442002|OMIM:265120|OMIM:614370|OMIMPS:265120 owl:Class MONDO:0019943 biolink:NamedThing hereditary continuous muscle fiber activity Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. tmpte7i6ely_mondo_relaxed.owl continuous muscle fiber activity hereditary GARD:0001512|OMIM:160120|ICD10:G71.1|UMLS:C1834559|Orphanet:972 https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary owl:Class UBERON:0004292 biolink:NamedThing cardiac skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003837 biolink:NamedThing thoracic segment connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012948 biolink:NamedThing chromosome 6pter-p24 deletion syndrome Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl 6p25 microdeletion syndrome|distal monosomy 6p|chromosome 6pter-p24 deletion syndrome|distal deletion 6p|distal monosomy type 6p|monosomy 6p25|6p subtelomeric deletion syndrome SCTID:718688008|OMIM:612582|UMLS:C2675486|ICD10:Q93.5|DOID:0060422|Orphanet:96125|MESH:C567239|UMLS:C4305276 owl:Class GO:0072329 biolink:NamedThing monocarboxylic acid catabolic process The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046395 biolink:NamedThing carboxylic acid catabolic process The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpte7i6ely_mondo_relaxed.owl carboxylic acid catabolism|carboxylic acid degradation|carboxylic acid breakdown owl:Class MONDO:0700084 biolink:NamedThing myopathy caused by variation in GMPPB Any myopathy in which the cause of the disease is a variation in the GMPPB gene. tmpte7i6ely_mondo_relaxed.owl myopathy caused by mutation in GMPPB|GMPPB-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0005336 biolink:NamedThing myopathy A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. tmpte7i6ely_mondo_relaxed.owl MESH:D009135|ICD9:359.8|ICD10:M62.9|NCIT:C101216|ICD10:G72.9|DOID:423|OMIM:300695|SCTID:129565002|UMLS:C0026848|ICD9:359.9|ICD10:M60-M63|ICD9:728.3|EFO:0004145|OMIM:181430 Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition owl:Class MONDO:0011595 biolink:NamedThing nonsyndromic congenital nail disorder 7 tmpte7i6ely_mondo_relaxed.owl isolated congenital onychodysplasia|nail disorder, nonsyndromic congenital, 7|congenital isolated nail dysplasia|COIF syndrome|isolated congenital nail dysplasia|NDNC7|onychodysplasia, isolated congenital|Iso-Kikuchi syndrome|nail dysplasia, isolated congenital|COIF|nonsyndromic congenital nail disorder type 7|congenital onychodysplasia of the index fingers MESH:C538333|Orphanet:79144|UMLS:C1853984|OMIM:605779|ICD10:Q84.6|DOID:0080085|GARD:0009761|SCTID:403281007 Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 owl:Class MONDO:0004240 biolink:NamedThing posterior urethra cancer A malignant neoplasm that affects the portion of the urethra that is close to the bladder. tmpte7i6ely_mondo_relaxed.owl malignant tumor of posterior urethra|malignant neoplasm of posterior urethra|posterior urethra malignant tumor|posterior urethral cancer|posterior urethra malignant neoplasm|posterior urethral malignant tumor|posterior urethral malignant neoplasm|malignant tumor of the posterior urethra|malignant neoplasm of the posterior urethra DOID:7488|UMLS:C0279931|NCIT:C7640 owl:Class MONDO:0004192 biolink:NamedThing urethra cancer A malignant neoplasm involving the urethra tmpte7i6ely_mondo_relaxed.owl urethral cancer|malignant urethra tumor|malignant neoplasm of the urethra|malignant tumor of urethra|malignant urethral neoplasm|malignant tumor of the urethra|malignant neoplasm of urethra|urethra cancer|urethral Ca|malignant urethra neoplasm|cancer of urethra|malignant urethral tumor|malignant tumour of urethra ICD10:C68.0|GARD:0009390|NCIT:C7507|SCTID:363459007|ONCOTREE:UCA|NCIT:C9106|ICD9:189.3|DOID:734 owl:Class CL:1001587 biolink:NamedThing uterine cervix glandular cell Glandular cell of uterine cervix epithelium. tmpte7i6ely_mondo_relaxed.owl cervix glandular cell|cervix, uterine glandular cells|cervix, uterine glandular cell CALOHA:TS-1273 owl:Class GO:1905207 biolink:NamedThing regulation of cardiocyte differentiation Any process that modulates the frequency, rate or extent of cardiocyte differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of cardiac cell differentiation|regulation of heart cell differentiation owl:Class MONDO:0015461 biolink:NamedThing short rib-polydactyly syndrome Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). tmpte7i6ely_mondo_relaxed.owl ICD10:Q77.2|UMLS:C0036996|SCTID:205484001|NCIT:C85065|ICD9:756.3|Orphanet:1505|MESH:D012779 owl:Class CL:1001111 biolink:NamedThing kidney loop of Henle thin descending limb epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001054 cell owl:Class MONDO:0600026 biolink:NamedThing vanishing lung syndrome A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae. tmpte7i6ely_mondo_relaxed.owl VLS|idiopathic giant bullous emphysema http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0019984 biolink:NamedThing renal tubular dysgenesis due to twin-twin transfusion An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects). tmpte7i6ely_mondo_relaxed.owl ICD10:Q63.8|Orphanet:97367|UMLS:CN206914 owl:Class CL:0000182 biolink:NamedThing hepatocyte The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. tmpte7i6ely_mondo_relaxed.owl BTO:0000575|CALOHA:TS-0454|FMA:14515 Hepatocytes are reportedly MHC Class I-positive and MHC Class II-positive. cell owl:Class MONDO:0019234 biolink:NamedThing peroxisome biogenesis disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder-Zellweger syndrome spectrum|peroxisome biogenesis disorders, Zellweger syndrome spectrum|PBD-ZSS|PBD-ZSD|Zellweger syndrome spectrum|peroxisomal biogenesis disorders|PBD, ZSS|disorders of peroxisome biogenesis|Zellweger spectrum disorders|PBD-Zellweger spectrum disorder|Zellweger spectrum disorder|ZSD|peroxisome biogenesis disorder spectrum|Zellweger spectrum|peroxisome biogenesis disorder|cerebrohepatorenal syndrome|peroxisomal biogenesis disorders, Zellweger syndrome spectrum MESH:C536664|DOID:0080377|MESH:C531857|Orphanet:79189|GARD:0009473|NCIT:C146639|GARD:0011890|SCTID:742876007|OMIMPS:214100 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0022990 biolink:NamedThing diphallus rachischisis imperforate anus tmpte7i6ely_mondo_relaxed.owl GARD:0001873 https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus owl:Class MONDO:0005047 biolink:NamedThing infertility disorder Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. tmpte7i6ely_mondo_relaxed.owl sterility|sterile|infertile|fertility disorders|Sterile|infertility DOID:5223|NCIT:C3836|EFO:0000545|MESH:D007246 Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting owl:Class HGNC:8851 biolink:NamedThing PEX10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043251 biolink:NamedThing odontoma A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported. tmpte7i6ely_mondo_relaxed.owl fibro-odontoma|odontoma, compound|fibro odontoma|fibro-odontomas|odontoma, benign|compound odontomas|compound odontoma|fibro-odontoma, ameloblastic|fibro-odontomas, ameloblastic|odontoma|ameloblastic fibro-odontomas|fibroodontoma|ameloblastic fibro-odontoma|odontomas|fibro odontoma, ameloblastic|fibroodontomas|odontomas, compound NCIT:C3287|ICDO:9280/0|MESH:D009810|GARD:0007247 owl:Class MONDO:0000383 biolink:NamedThing benign reproductive system neoplasm A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. tmpte7i6ely_mondo_relaxed.owl reproductive organ benign neoplasm|benign reproductive system neoplasm UMLS:C1332536|DOID:0050622|NCIT:C7617 owl:Class MONDO:0012504 biolink:NamedThing camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. tmpte7i6ely_mondo_relaxed.owl camptodactyly, tall stature, and hearing loss syndrome|CATSHLS|CATSHL syndrome OMIM:610474|UMLS:C1864852|ICD10:Q87.2|Orphanet:85164|DOID:0111160|MESH:C537975|GARD:0010012 owl:Class UBERON:0001205 biolink:NamedThing submucosa of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033366 biolink:NamedThing developmental and epileptic encephalopathy, 57 tmpte7i6ely_mondo_relaxed.owl DEE57|epileptic encephalopathy, early infantile, 57|infantile epileptic encephalopathy 57|EIEE57 DOID:0080284|UMLS:CN633295|OMIM:617771 owl:Class CHEBI:33743 biolink:NamedThing manganese group molecular entity tmpte7i6ely_mondo_relaxed.owl manganese group molecular entity|manganese group molecular entities owl:Class CHEBI:33676 biolink:NamedThing d-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. tmpte7i6ely_mondo_relaxed.owl d-block molecular entity|d-block compounds|d-block molecular entities owl:Class MONDO:0023180 biolink:NamedThing fragile X syndrome type 3 tmpte7i6ely_mondo_relaxed.owl GARD:0002368 https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3 owl:Class MONDO:0010383 biolink:NamedThing fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability and macroorchidism|fragile 10 premature ovarian failure|fragile 10 intellectual disability syndrome|X-linked mental retardation and macroorchidism|mental retardation, X-linked, associated with Marxq28|Martin-Bell syndrome|fragile X intellectual disability syndrome|fra(X) syndrome|FXS|marker 10 syndrome|fragile X mental retardation syndrome|intellectual disability, X-linked, associated with Marxq28|marker X syndrome|primary ovarian insufficiency, fragile X-associated|fragile 10 syndrome|fragile 10 mental retardation syndrome|FraX syndrome|FRAXA syndrome|fragile X syndrome ICD9:759.83|OMIM:300624|NCIT:C84717|DOID:14261|UMLS:C0016667|ICD10:Q99.2|Orphanet:908|MESH:D005600|GARD:0006464|SCTID:613003|MedDRA:10017324 owl:Class MONDO:0011758 biolink:NamedThing Hurler syndrome Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis type IH|MPS1-H|Hurler syndrome|mucopolysaccharidosis IH|MPS1H|MPSIH|MPS I H|mucopolysaccharidosis type 1H|Hurler disease NCIT:C61261|ICD10:E76.0|GARD:0012559|Orphanet:579|DOID:0111390|OMIM:607014|Orphanet:93473 owl:Class UBERON:0011767 biolink:NamedThing right recurrent laryngeal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007615 biolink:NamedThing laurin-Sandrow syndrome Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. tmpte7i6ely_mondo_relaxed.owl laurin-Sandrow syndrome, segmental|mirror-Image polydactyly|laurin Sandrow syndrome|fibula ulna duplication tibia radius absence|mirror hands and feet with nasal defects|mirror hands and feets-nasal defects syndrome|laurin-Sandrow syndrome|Sandrow syndrome|tetramelic mirror-Image polydactyly|fibula and ulna, Duplication of, with absence of tibia and radius|LSS DOID:0111350|SCTID:715440003|GARD:0000155|MESH:C535689|Orphanet:2378|ICD10:Q87.2|OMIM:135750 https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome owl:Class MONDO:0001896 biolink:NamedThing obstructive hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. tmpte7i6ely_mondo_relaxed.owl non-communicating hydrocephalus ICD10:G91.1|DOID:14159|MESH:D006849|ICD9:331.4|SCTID:230746009|NCIT:C116347|UMLS:C0549423 owl:Class GO:0006624 biolink:NamedThing vacuolar protein processing Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes. tmpte7i6ely_mondo_relaxed.owl vacuolar protein maturation|vacuolar proteolysis owl:Class MONDO:0002259 biolink:NamedThing gonadal disorder A non-neoplastic or neoplastic disorder that affects the testis or the ovary. tmpte7i6ely_mondo_relaxed.owl disorder of gonad|gonad disease or disorder|disease of gonad|gonadal disorders|gonad disease|disease or disorder of gonad|disorder of gonads|gonadal disorder NCIT:C26786|MESH:D006058|UMLS:C0018050|DOID:2277 owl:Class MONDO:0006688 biolink:NamedThing byssinosis An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. tmpte7i6ely_mondo_relaxed.owl textile worker's lung|Monday morning fever|stripper's asthma|cotton mill fever|flax-dressers' disease|cotton dust pneumoconiosis|pneumoconiosis from cotton dust UMLS:C0006542|MedDRA:10006822|NCIT:C84605|ICD9:504|GARD:0005976|DOID:10323|UMLS:C2242894|EFO:1000851|ICD10:J66.0|SCTID:13151001|MESH:D002095 https://rarediseases.info.nih.gov/diseases/5976/byssinosis owl:Class MONDO:0015926 biolink:NamedThing pneumoconiosis An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis. tmpte7i6ely_mondo_relaxed.owl Black lung disease|coal worker's pneumoconiosis MedDRA:10035653|UMLS:C0032273|NCIT:C26861|Orphanet:182098|MESH:D011009|GARD:0008356|SCTID:40122008|DOID:10316|ICD9:505|ICD10:J64 owl:Class HsapDv:0000096 biolink:NamedThing 2-year-old human stage Child stage that refers to a child who is over 2 and under 3 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000114 biolink:NamedThing lung connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014105 biolink:NamedThing hypogonadotropic hypogonadism 19 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism 19 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in DUSP6|DUSP6 hypogonadotropic hypogonadism|HH19 OMIM:615269|UMLS:C3808981|DOID:0090090|ICD10:E23.0 owl:Class UBERON:8410002 biolink:NamedThing small intestine lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29918 biolink:NamedThing NDUFAF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005007 biolink:NamedThing colon mucinous adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. tmpte7i6ely_mondo_relaxed.owl colloidal adenocarcinoma of colon|colon colloidal adenocarcinoma|mucinous adenocarcinoma of the colon|colonic colloid adenocarcinoma|colloid adenocarcinoma of colon|colloidal colon adenocarcinoma|colonic colloidal adenocarcinoma|colon colloid adenocarcinoma|colonic mucinous adenocarcinoma|colloid adenocarcinoma of the colon|colloid colon adenocarcinoma|mucinous adenocarcinoma of colon|colloidal adenocarcinoma of the colon|colon mucinous adenocarcinoma|mucinous colon adenocarcinoma NCIT:C7966|UMLS:C0279639|EFO:0000364|DOID:3029 owl:Class MONDO:0018875 biolink:NamedThing Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). tmpte7i6ely_mondo_relaxed.owl Li-Fraumeni familial cancer susceptibility syndrome|SBLA syndrome|Li Fraumeni syndrome|Li-Fraumeni familiar cancer susceptibility syndrome|Li-Fraumeni syndrome|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)|sarcoma, breast, leukaemia and adrenal gland syndrome|sarcoma family syndrome of Li and Fraumeni OMIM:609265|GARD:0006902|DOID:3012|MESH:D016864|ICD9:V84.01|OMIM:151623|Orphanet:524|MedDRA:10066795|OMIMPS:151623|NCIT:C3476|UMLS:C0085390|SCTID:428850001|OMIM:609266|ICD10:D48.9 owl:Class CL:0000079 biolink:NamedThing stratified epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0023089 biolink:NamedThing erythroplakia A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl erythroplakia EFO:1001786|NCIT:C3025|GARD:0006378|UMLS:C0014818 https://rarediseases.info.nih.gov/diseases/6378/erythroplakia owl:Class MONDO:0006767 biolink:NamedThing gastric antral vascular ectasia Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding. tmpte7i6ely_mondo_relaxed.owl watermelon stomach|gave DOID:2493|GARD:0007877|MESH:D020252|EFO:1000945|NCIT:C84724|MedDRA:10051585|SCTID:43935004 owl:Class MONDO:0015485 biolink:NamedThing primary hereditary glaucoma tmpte7i6ely_mondo_relaxed.owl primary glaucoma Orphanet:156005 owl:Class MONDO:0020650 biolink:NamedThing germ cell tumor of the vulva tmpte7i6ely_mondo_relaxed.owl ONCOTREE:VGCT owl:Class NCBITaxon:715989 biolink:NamedThing sordariomyceta tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:716546 biolink:NamedThing leotiomyceta tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009155 biolink:NamedThing EEM syndrome EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). tmpte7i6ely_mondo_relaxed.owl EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy|EEMS|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome DOID:0111649|SCTID:720856002|OMIM:225280|MESH:C536190|Orphanet:1897|ICD10:Q87.8|GARD:0002078 https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome owl:Class MONDO:0020242 biolink:NamedThing genetic macular dystrophy Macular dystrophy that is related to a change in a gene. tmpte7i6ely_mondo_relaxed.owl genetic macular dystrophy|genetic macular dystrophy (disease) ICD10:H35.5|Orphanet:98664|NCIT:C140264|SCTID:276436007 owl:Class MONDO:0018163 biolink:NamedThing autosomal recessive cutis laxa type 2A An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. tmpte7i6ely_mondo_relaxed.owl cutis laxa with congenital disorder of glycosylation|cutis laxa, autosomal recessive, type IIA|cutis laxa, debre type|autosomal recessive cutis laxa type IIA|cutis laxa with Joint laxity and retarded development|cutis laxa with bone dystrophy|cutis laxa, autosomal recessive, type 2A|cutis laxa with growth and developmental delay|cutis laxa, autosomal recessive type 2A|ARCL2A|autosomal recessive cutis laxa type 2A Orphanet:357058|DOID:0070134|ICD10:Q82.8|OMIM:219200|OMIM:278250|GARD:0001638 owl:Class UBERON:0001075 biolink:NamedThing bony vertebral centrum tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000242 biolink:NamedThing Merkel cell A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber. tmpte7i6ely_mondo_relaxed.owl Merkel's cell FMA:70548 cell owl:Class CL:0000710 biolink:NamedThing neurecto-epithelial cell Epithelial cells derived from neural plate and neural crest. tmpte7i6ely_mondo_relaxed.owl neuroepithelial cell BTO:0004301|FMA:70557 The term "neuroepithelial cell" is used to describe both this cell type and sensory epithelial cell (CL:0000098). cell owl:Class MONDO:0001309 biolink:NamedThing oculomotor nerve paralysis Paralysis of the oculomotor nerve. tmpte7i6ely_mondo_relaxed.owl IIIrd nerve paralysis|oculomotor palsy|III nerve palsy|cranial nerve palsy of oculomotor nerve|oculomotor nerve paralysis|third cranial nerve paralysis|oculomotor nerve cranial nerve palsy NCIT:C27597|MESH:D015840|DOID:11550|SCTID:388980004|Orphanet:98685|UMLS:C0028866|ICD10:H49.0 owl:Class MONDO:0007165 biolink:NamedThing spastic ataxia 7 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. tmpte7i6ely_mondo_relaxed.owl miosis, congenital, with spastic ataxia|spastic ataxia 7, autosomal dominant|SPAX7|spastic ataxia type 7|spastic ataxia with congenital miosis|autosomal dominant spastic ataxia type 7 DOID:0050945|Orphanet:1182|MESH:C566247|SCTID:763669001|OMIM:108650|UMLS:C1862441|ICD10:G11.4 owl:Class MONDO:0017846 biolink:NamedThing autosomal dominant spastic ataxia Autosomal dominant form of spastic ataxia. tmpte7i6ely_mondo_relaxed.owl spastic ataxia, autosomal dominant|AD-SPAX ICD10:G11.4|UMLS:CN229111|Orphanet:316235 owl:Class MONDO:0012897 biolink:NamedThing congenital factor XI deficiency Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. tmpte7i6ely_mondo_relaxed.owl factor XI deficiency|Rosenthal factor deficiency|Rosenthal's disease|factor 11 deficiency|hereditary Factor XI deficiency|congenital factor XI deficiency|F11 deficiency|PTA deficiency|Rosenthal syndrome|hemophilia C|hereditary factor XI deficiency|plasma thromboplastin antecedent deficiency|hereditary factor XI deficiency disease GARD:0009670|SCTID:49762007|DOID:2229|NCIT:C84705|ICD10:D68.1|OMIM:612416|UMLS:C0015523|MESH:D005173|Orphanet:329|ICD9:286.2 https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency owl:Class MONDO:0001706 biolink:NamedThing cerebral sarcoidosis Sarcoidosis of the cerebrum. tmpte7i6ely_mondo_relaxed.owl cerebral sarcoidosis|sarcoidosis of telencephalon|telencephalon sarcoidosis UMLS:C0398676|SCTID:111936002|NCIT:C35441|DOID:13403 owl:Class MONDO:0045047 biolink:NamedThing neurosarcoidosis A sarcoidosis that involves the nervous system. tmpte7i6ely_mondo_relaxed.owl sarcoidosis of nervous system|nervous system sarcoidosis|neurosarcoidosis MESH:C535814|SCTID:230193008|UMLS:C0393485 owl:Class CL:0009033 biolink:NamedThing plasma cell of appendix A plasma cell that is located in a vermiform appendix. tmpte7i6ely_mondo_relaxed.owl appendix plasma cell|plasma cell of vermiform appendix|plasma cell of appendix vermiformis owl:Class CL:0000786 biolink:NamedThing plasma cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. tmpte7i6ely_mondo_relaxed.owl plasmocyte|plasma B cell|plasmacyte|effector B cell|effector B-cell|plasma B-cell FMA:70574|BTO:0000392 Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive. cell owl:Class GO:1900004 biolink:NamedThing negative regulation of serine-type endopeptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type endopeptidase activity. tmpte7i6ely_mondo_relaxed.owl down regulation of blood coagulation factor activity|down regulation of serine-type endopeptidase activity|negative regulation of blood coagulation factor activity owl:Class GO:1900003 biolink:NamedThing regulation of serine-type endopeptidase activity Any process that modulates the frequency, rate or extent of serine-type endopeptidase activity. tmpte7i6ely_mondo_relaxed.owl regulation of blood coagulation factor activity owl:Class GO:0009746 biolink:NamedThing response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. tmpte7i6ely_mondo_relaxed.owl response to hexose stimulus owl:Class GO:0034284 biolink:NamedThing response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. tmpte7i6ely_mondo_relaxed.owl response to monosaccharide stimulus owl:Class MONDO:0019120 biolink:NamedThing pili bifurcati Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. tmpte7i6ely_mondo_relaxed.owl SCTID:717360009|ICD10:L67.8|Orphanet:720 owl:Class MONDO:0019281 biolink:NamedThing isolated genetic hair shaft abnormality tmpte7i6ely_mondo_relaxed.owl isolated hair shaft abnormality Orphanet:79366 owl:Class MONDO:0004546 biolink:NamedThing lumbar plexus neoplasm A neoplasm (disease) that involves the lumbar nerve plexus. tmpte7i6ely_mondo_relaxed.owl neoplasm of lumbar nerve plexus|lumbar plexus neoplasms|tumor of lumbar plexus|lumbar nerve plexus tumor|tumor of lumbar nerve plexus|tumor of the lumbar plexus|lumbar plexus tumor|lumbar nerve plexus neoplasm (disease)|lumbar nerve plexus neoplasm|neoplasm of the lumbar plexus|neoplasm of lumbar plexus DOID:8389|NCIT:C5824|UMLS:C1334437 owl:Class MONDO:0001829 biolink:NamedThing lumbosacral plexus lesion A nerve plexus disease that involves the lumbosacral nerve plexus. tmpte7i6ely_mondo_relaxed.owl lumbosacral plexus lesions|lumbosacral nerve plexus nerve plexus disease|nerve plexus disease of lumbosacral nerve plexus SCTID:4062006|ICD9:353.1|DOID:13913|UMLS:C0154735 owl:Class MONDO:0041186 biolink:NamedThing Rowell syndrome A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities. tmpte7i6ely_mondo_relaxed.owl lupus erythematosus and erythema multiforme-like syndrome|Rowell's syndrome UMLS:C0406637|SCTID:238926009 owl:Class MONDO:0018556 biolink:NamedThing Lambert-Eaton myasthenic syndrome Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). tmpte7i6ely_mondo_relaxed.owl Lambert Eaton myasthenic syndrome|myasthenic-myopathic syndrome of Lambert-Eaton|Lambert Eaton syndrome|Eaton Lambert syndrome|Lambert-Eaton syndrome|LEMS|Eaton-Lambert syndrome|myasthenic syndrome of Lambert-Eaton ICD10:G70.80|MedDRA:10067685|SCTID:56989000|NCIT:C3155|GARD:0006851|ICD9:358.3|DOID:0050214|ICD10:G73.1|MESH:D015624|UMLS:C0022972|Orphanet:43393 https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome owl:Class MONDO:0008042 biolink:NamedThing myoclonus and ataxia tmpte7i6ely_mondo_relaxed.owl dyssynergia cerebellaris progressiva|dentatorubral atrophy|myoclonus and ataxia|dyssynergia cerebellaris myoclonica|dentate cerebellar ataxia|progressive myoclonus ataxia|Ramsay Hunt syndrome|primary dentatum atrophy|Ramsay Hunt syndrome type 1 (formerly)|Ramsay Hunt syndrome type 1 2022-05-01 OMIM:159700|UMLS:C1834580|GARD:0009256 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0020780 biolink:NamedThing cone-rod dystrophy and hearing loss 2 tmpte7i6ely_mondo_relaxed.owl CONE-ROD DYSTROPHY AND HEARING LOSS 2|CRDHL2 OMIM:618358 owl:Class GO:0042633 biolink:NamedThing hair cycle The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042303 biolink:NamedThing molting cycle The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014141 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 tmpte7i6ely_mondo_relaxed.owl MDDGB14|congenital muscular dystrophy-GMPPB related|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|muscular dystrophy, congenital, GMPPB-related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14 Orphanet:370959|UMLS:C3809221|Orphanet:370968|OMIM:615351 owl:Class HGNC:17755 biolink:NamedThing TNFRSF13C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007375 biolink:NamedThing epithelial basement membrane dystrophy tmpte7i6ely_mondo_relaxed.owl anterior basement membrane dystrophy|microcystic corneal dystrophy|corneal dystrophy, anterior basement Membrane|EBMD|Map-dot-fingerprint dystrophy of cornea|Cogan microcystic epithelial dystrophy|corneal dystrophy, epithelial basement MEMBRANE|Map-dot-fingerprint dystrophy|Cogan corneal dystrophy|epithelial basement membrane corneal dystrophy|corneal dystrophy, microcystic|corneal dystrophy, Map-Dot-Fingerprint type|microcystic dystrophy of the cornea MESH:C535477|DOID:0060447|SCTID:373426005|OMIM:121820|Orphanet:98956|GARD:0009732|ICD10:H18.5 owl:Class MONDO:0005819 biolink:NamedThing laryngeal tuberculosis Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. tmpte7i6ely_mondo_relaxed.owl larynx tuberculosis|tuberculous laryngitis ICD9:012.30|EFO:0007337|ICD9:012.31|ICD9:012.3|ICD9:012.32|NCIT:C26895|SCTID:70341005|DOID:1583|ICD10:A15.5|UMLS:C0041315|MESH:D014387 owl:Class MONDO:0021275 biolink:NamedThing papilloma of eyelid A papilloma that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl eyelid papilloma|papilloma of the eyelid UMLS:C1142491|SCTID:314515006|NCIT:C4061 owl:Class MONDO:0002536 biolink:NamedThing skin papilloma A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin. tmpte7i6ely_mondo_relaxed.owl zone of skin papilloma|cutaneous papilloma|papilloma of the skin|skin papilloma|papilloma of skin|basosquamous tumor, benign DOID:3178|UMLS:C0347390|NCIT:C4614|SCTID:255184001 owl:Class MONDO:0003802 biolink:NamedThing cornea cancer A malignant neoplasm involving the cornea. tmpte7i6ely_mondo_relaxed.owl malignant corneal neoplasm|cornea cancer|corneal tumor|cancer of cornea|malignant cornea neoplasm|malignant neoplasm of cornea (primary)|malignant tumor of the cornea|malignant neoplasm of the cornea|malignant corneal tumor|malignant neoplasm of cornea|malignant tumor of cornea|malignant cornea tumor NCIT:C4361|UMLS:C0339304|ICD10:C69.1|NCIT:C3565|ICD9:190.4|UMLS:C0153629|DOID:6199|SCTID:363464006 owl:Class MONDO:0021238 biolink:NamedThing cornea neoplasm A neoplasm (disease) that involves the cornea. tmpte7i6ely_mondo_relaxed.owl neoplasm of cornea|cornea tumor|corneal tumor|tumor of cornea|corneal neoplasm|tumor of the cornea|cornea neoplasm (disease)|neoplasm of the cornea NCIT:C4361|UMLS:C0339304 owl:Class GO:0060301 biolink:NamedThing positive regulation of cytokine activity Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000273 biolink:NamedThing positive regulation of signaling receptor activity Any process that activates or increases the frequency, rate or extent of signaling receptor activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of signalling receptor activity owl:Class MONDO:0000255 biolink:NamedThing subcutaneous mycosis A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis. tmpte7i6ely_mondo_relaxed.owl subcutaneous mycosis DOID:0050135 owl:Class CL:1000714 biolink:NamedThing kidney cortex collecting duct principal cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001130 cell owl:Class GO:0032879 biolink:NamedThing regulation of localization Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl regulation of localisation owl:Class MONDO:0011784 biolink:NamedThing Moyamoya disease 2 Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene. tmpte7i6ely_mondo_relaxed.owl Moyamoya disease caused by mutation in RNF213|Moyamoya disease type 2|MYMY2|Moyamoya disease 2|RNF213 Moyamoya disease OMIM:607151|Orphanet:2573|UMLS:C1846689|MESH:C536992 owl:Class HGNC:16947 biolink:NamedThing ERLIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002385 biolink:NamedThing muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000526 biolink:NamedThing exposure to neurotransmitter An exposure to neurotransmitter. tmpte7i6ely_mondo_relaxed.owl exposure to neurotransmitter owl:Class MONDO:0100210 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation tmpte7i6ely_mondo_relaxed.owl OMIMPS:245590 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014271 biolink:NamedThing STT3B-CDG STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1). tmpte7i6ely_mondo_relaxed.owl CDG1X|congenital disorder of glycosylation, type IX|CDG syndrome type IX|carbohydrate deficient glycoprotein syndrome type IX|congenital disorder of glycosylation type IX|CDG IX|congenital disorder of glycosylation type 1x|CDG-Ix ICD10:E77.8|DOID:0080573|OMIM:615597|UMLS:C2931007|MESH:C535751|Orphanet:370924|SCTID:733112007 owl:Class UBERON:0001790 biolink:NamedThing outer plexiform layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013743 biolink:NamedThing autosomal systemic lupus erythematosus type 16 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus type 16|SLEB16|autosomal SLE|familial SLE|systemic lupus erythematosus 16|familial systemic lupus erythematosus ICD10:M32.8|OMIM:614420|Orphanet:300345|UMLS:C3280742 Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 owl:Class MONDO:0007915 biolink:NamedThing systemic lupus erythematosus An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. tmpte7i6ely_mondo_relaxed.owl excess lymphocyte low molecular weight DNA|systemic lupus erythematosus|SLE - lupus erythematosus, systemic|disseminated lupus erythematosus|excess LMW-DNA|SLE|lupus erythematosus, systemic|systemic lupus erythematosus (disease) systemic lupus erythematosus (disease) MESH:D008180|OMIM:605218|HP:0002725|OMIM:612251|OMIM:612254|ICD10:M32.8|ICD10:M32.0|ICD10:M32|Orphanet:536|OMIM:300809|OMIM:152700|OMIM:609939|ICD10:M32.9|OMIM:601744|OMIM:610065|OMIM:614420|OMIM:610927|ICD9:710.0|OMIM:609903|EFO:0002690|KEGG:05322|NCIT:C3201|SCTID:55464009|ICD10:M32.1|OMIM:605480|DOID:9074|OMIM:612253|OMIM:612378|OMIM:608437|OMIM:613145|OMIM:610066 owl:Class MONDO:0016663 biolink:NamedThing overlapping connective tissue disease tmpte7i6ely_mondo_relaxed.owl UMLS:C0026272|UMLS:C1858556|ICD10:M35.1|Orphanet:251312|MedDRA:10027754|UMLS:CN201903 owl:Class MONDO:0019745 biolink:NamedThing cystinuria type A tmpte7i6ely_mondo_relaxed.owl ICD10:E72.0|MESH:C565652|Orphanet:93612|OMIM:220100 owl:Class GO:0005594 biolink:NamedThing collagen type IX trimer A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005593 biolink:NamedThing FACIT collagen trimer A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005661 biolink:NamedThing babesiosis Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. tmpte7i6ely_mondo_relaxed.owl infection by Babesia|babesiasis|Babesia caused disease or disorder|Babesia disease or disorder|Human babesiosis|Babesia parasite infection|piroplasmosis|Babesia infectious disease ICD9:088.82|UMLS:C0004576|Orphanet:108|SCTID:21061004|DOID:9643|EFO:0007162|MESH:D001404|GARD:0005878|MedDRA:10003965|ICD10:B60.0|NCIT:C84581 https://rarediseases.info.nih.gov/diseases/5878/babesiosis owl:Class NCBITaxon:376913 biolink:NamedThing Haplorrhini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9443 biolink:NamedThing Primates tmpte7i6ely_mondo_relaxed.owl primates|primate|Primata GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008662 biolink:NamedThing autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. tmpte7i6ely_mondo_relaxed.owl VRCP|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|vitreoretinochoroidopathy dominant|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|ADVIRC|vitreoretinochoroidopathy, autosomal dominant|vitreoretinochoroidopathy|VRCP autosomal dominant ICD10:H35.5|MESH:C536352|SCTID:711162004|OMIM:193220|Orphanet:263347|GARD:0005507|DOID:0111569|UMLS:C3888099|Orphanet:3086 owl:Class NCBITaxon:447134 biolink:NamedThing Myodes tmpte7i6ely_mondo_relaxed.owl Clethrionomys GC_ID:1 NCBITaxon:13014 ncbi_taxonomy owl:Class NCBITaxon:39087 biolink:NamedThing Arvicolinae tmpte7i6ely_mondo_relaxed.owl Microtinae GC_ID:1 ncbi_taxonomy owl:Class HGNC:15598 biolink:NamedThing HAMP tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009018 biolink:NamedThing lymphocyte of large intestine lamina propria A lymphocyte that resides in the lamina propria of the large intestine. tmpte7i6ely_mondo_relaxed.owl lamina propria lymphocyte of large intestine owl:Class CL:0000542 biolink:NamedThing lymphocyte A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpte7i6ely_mondo_relaxed.owl VHOG:0001535|CALOHA:TS-0583|BTO:0000775|FMA:62863 Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) cell owl:Class UBERON:0010570 biolink:NamedThing manual digit 1 metacarpus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010699 biolink:NamedThing manual digit metacarpus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006576 biolink:NamedThing cellular biogenic amine metabolic process The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpte7i6ely_mondo_relaxed.owl biogenic amine metabolism owl:Class MONDO:0000107 biolink:NamedThing auriculocondylar syndrome Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. tmpte7i6ely_mondo_relaxed.owl auriculo-condylar syndrome|question mark ear syndrome|ears prominent and constricted|question mark ear|dysgnathia complex|question-mark ear syndrome OMIMPS:602483|OMIM:612798|GARD:0009798|UMLS:CN160484|OMIM:614669|UMLS:C1865295|OMIM:615706|MESH:C538270|OMIM:602483|Orphanet:137888|ICD10:Q75.8|SCTID:702443003 owl:Class MONDO:0007500 biolink:NamedThing ear malformation tmpte7i6ely_mondo_relaxed.owl cup Ear|ear malformation SCTID:275259005|ICD9:744.3|ICD9:744.29|OMIM:128600 owl:Class MONDO:0011681 biolink:NamedThing episodic ataxia type 4 Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. tmpte7i6ely_mondo_relaxed.owl periodic vestibulocerebellar ataxia|ataxia, periodic vestibulocerebellar|PATX|EA4|episodic ataxia, type 4 ICD10:G11.8|Orphanet:79136|DOID:0050992|SCTID:718754008|OMIM:606552|MESH:C564698|UMLS:C1847843 owl:Class MONDO:0005300 biolink:NamedThing chronic kidney disease Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. tmpte7i6ely_mondo_relaxed.owl chronic kidney disease|chronic renal disease|CKD|chronic renal insufficiency|chronic renal failure syndrome|CKD - chronic kidney disease|renal failure - chronic|kidney disease, chronic ICD10:N18.9|SCTID:90688005|SCTID:46177005|ICD9:585.6|MESH:D051436|NCIT:C9438|SCTID:709044004|EFO:0003884|DOID:784|NCIT:C80078|MESH:D007676|UMLS:C0022661|ICD9:585 owl:Class MONDO:0004175 biolink:NamedThing mucin-rich endometrial endometrioid adenocarcinoma tmpte7i6ely_mondo_relaxed.owl DOID:7293|UMLS:C1513711|NCIT:C8717 owl:Class UBERON:0036274 biolink:NamedThing tonsillar pillar tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010952 biolink:NamedThing hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. tmpte7i6ely_mondo_relaxed.owl hyperferritinemia with or without cataract|hyperferritinemia-cataract syndrome|cataract-hyperferritinemia syndrome|hereditary hyperferritinemia cataract syndrome|Bonneau-Beaumont syndrome|HRFTC|hyperferritinemia cataract syndrome|HHCS|hyperferritinemia, hereditary, with congenital cataracts|hereditary hyperferritinemia-cataract syndrome OMIM:600886|ICD9:289.89|UMLS:C1833213|DOID:0111256|SCTID:702398007|MESH:C538137|GARD:0002806|ICD9:366.44|ICD10:H26.0|Orphanet:163 owl:Class MONDO:0030708 biolink:NamedThing Trichomonas cervicitis An cervicitis (disease) caused by infection with Trichomonas vaginalis. tmpte7i6ely_mondo_relaxed.owl Trichomonas vaginalis caused cervicitis (disease)|Trichomonas cervicitis|Trichomonas vaginalis cervicitis (disease) NCIT:C35588 owl:Class UBERON:0001616 biolink:NamedThing maxillary artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021331 biolink:NamedThing carcinoma of parotid gland A carcinoma that involves the parotid gland. tmpte7i6ely_mondo_relaxed.owl carcinoma of parotid gland|carcinoma of the parotid|parotid gland carcinoma|parotid gland cancer|carcinoma of parotid|carcinoma of the parotid gland|parotid carcinoma UMLS:C0345602|NCIT:C6791|EFO:1000460|SCTID:254462001 owl:Class MONDO:0003173 biolink:NamedThing brain stem astrocytic neoplasm An astrocytoma that arises from the brain stem. tmpte7i6ely_mondo_relaxed.owl astrocytoma (excluding glioblastoma) of brainstem|brainstem astrocytoma|brain stem astrocytoma|brainstem astrocytoma (excluding glioblastoma) SCTID:107581000119103|DOID:4860|UMLS:C1332608|NCIT:C7445 owl:Class MONDO:0002911 biolink:NamedThing brain stem glioma A neuroglial tumor that arises from the brain stem. tmpte7i6ely_mondo_relaxed.owl brain stem glioma|glioma of brainstem|glioma of the brain stem|glioma of the brainstem|brainstem neuroglial neoplasm|brainstem neuroglial tumor|brainstem glioma|malignant glioma of brainstem|brainstem malignant glioma|diffuse brainstem glioma|brain stem neuroglial tumor|brain stem neuroglial neoplasm|glioma of brain stem UMLS:C0677865|SCTID:444545003|DOID:4202|NCIT:C8501 owl:Class UBERON:0002528 biolink:NamedThing sacral lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013683 biolink:NamedThing vesicoureteral reflux 5 tmpte7i6ely_mondo_relaxed.owl VUR5|vesicoureteral reflux 5 OMIM:614318|UMLS:C3280440|Orphanet:289365 owl:Class MONDO:0014201 biolink:NamedThing developmental and epileptic encephalopathy, 18 tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy without suppression burst|DEE18|epileptic encephalopathy, early infantile, type 18|epileptic encephalopathy, early infantile, 18|EIEE18 Orphanet:369894|ICD10:G40.4|OMIM:615476|UMLS:C3809624|DOID:0080413 owl:Class HGNC:8794 biolink:NamedThing PDE8B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042322 biolink:NamedThing negative regulation of circadian sleep/wake cycle, REM sleep Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. tmpte7i6ely_mondo_relaxed.owl inhibition of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|downregulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|down regulation of circadian sleep/wake cycle, REM sleep owl:Class MONDO:0012521 biolink:NamedThing herpes simplex encephalitis Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. tmpte7i6ely_mondo_relaxed.owl Simplexvirus infectious encephalitis|Herpes simplex neuroinvasion|HSVE|Herpes simplex meningo-encephalitis|Simplexvirus caused infectious encephalitis|Herpes simplex virus encephalitis|herpetic encephalitis|HSV encephalitis|HSE OMIM:610551|OMIM:616532|Orphanet:1930|OMIM:614850|OMIM:613002|GARD:0006649|OMIM:614849|NCIT:C84762|ICD10:G05.1*|MESH:D020803|ICD10:B00.4+ https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis owl:Class UBERON:0002539 biolink:NamedThing pharyngeal arch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011143 biolink:NamedThing upper urinary tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013525 biolink:NamedThing primary ciliary dyskinesia 16 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, type 16|primary ciliary dyskinesia type 16|CILD16|primary ciliary dyskinesia caused by mutation in DNAL1|ciliary dyskinesia, primary, 16|DNAL1 primary ciliary dyskinesia|primary ciliary dyskinesia 16 with or without situs inversus|ciliary dyskinesia, primary, 16, with or without situs inversus ICD10:Q34.8|DOID:0110613|UMLS:C3151460|OMIM:614017 owl:Class MONDO:0018591 biolink:NamedThing ITM2B amyloidosis tmpte7i6ely_mondo_relaxed.owl ITM2B-related amyloidosis|familial cerebral amyloid angiopathy|ITM2B-related cerebral amyloid angiopathy ICD10:E85.4+|ICD9:277.39|OMIM:117300|Orphanet:439254|SCTID:45639009|OMIM:176500|UMLS:CN237622|ICD10:I68.0* owl:Class MONDO:0018634 biolink:NamedThing hereditary amyloidosis Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. tmpte7i6ely_mondo_relaxed.owl amyloidosis, Familial|amyloidosis hereditary|hereditary amyloidosis (disease)|familial amyloidosis MESH:D028226|Orphanet:444116|GARD:0006611|NCIT:C84555|UMLS:C0206246|SCTID:367601000119103 https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis owl:Class MONDO:0009905 biolink:NamedThing urban-Rogers-Meyer syndrome This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. tmpte7i6ely_mondo_relaxed.owl Prader-Willi habitus-osteopenia-camptodactyly syndrome|Prader-Willi habitus, osteopenia, and camptodactyly|urban-Rogers-Meyer syndrome|intellectual disability-short stature-hand contractures-genital anomalies syndrome ICD10:Q87.8|OMIM:264010|MESH:C538276|GARD:0005426|UMLS:C0796189|SCTID:716334004|Orphanet:3409 owl:Class CL:1000282 biolink:NamedThing smooth muscle fiber of ascending colon A smooth muscle cell that is part of the ascending colon. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of ascending colon FMA:17518 cell owl:Class MONDO:0021003 biolink:NamedThing polydactyly A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms. tmpte7i6ely_mondo_relaxed.owl polydactyly (disease)|hyperdactyly|postaxial polydactyly|polydactyly|polydactylism|supernumerary digit polydactyly (disease) ICD10:Q69.1|ICD10:Q69|HP:0010442|OMIM:174200|MedDRA:10036063|ICD10:Q69.9|OMIM:174500|ICD10:Q69.0|ICD9:755.00|OMIM:174700|SCTID:367506006|OMIM:603596|ICD10:Q69.2|ICD9:755.0|DOID:1148|NCIT:C87110 owl:Class MONDO:0005630 biolink:NamedThing actinobacillosis A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. tmpte7i6ely_mondo_relaxed.owl DOID:4974|SCTID:16140007|MESH:D000187|UMLS:C0001247|EFO:0007127 owl:Class MONDO:0019317 biolink:NamedThing follicular atrophoderma-basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl Orphanet:79459|ICD10:L98.8|UMLS:CN205972 owl:Class MONDO:0010535 biolink:NamedThing Bazex-Dupre-Christol syndrome Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas. tmpte7i6ely_mondo_relaxed.owl Bazex syndrome|acrokeratosis paraneoplastica of Bazex|acrokeratosis of Bazex|acrokeratosis paraneoplastica|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|follicular atrophoderma-basal cell carcinoma syndrome|BDCS|follicular atrophoderma and basal cell carcinomas|Bazex-Dupré-Christol syndrome|Bazex-Dupre-Christol syndrome|BZX Orphanet:166113|Orphanet:113|OMIM:301845|UMLS:C0406355|GARD:0000838|ICD10:L98.8|SCTID:238640007|ICD9:757.39|UMLS:CN200039|SCTID:254820002 owl:Class MONDO:0019903 biolink:NamedThing ring chromosome 2 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). tmpte7i6ely_mondo_relaxed.owl Ring chromosome type 2|chromosome 2 ring|Ring 2|rose cluster 2|Ring chromosome 2 syndrome|R2 NCIT:C121981|UMLS:C4707448|SCTID:765485000|Orphanet:96171|ICD10:Q93.2|GARD:0010837 https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 owl:Class GO:0140242 biolink:NamedThing translation at postsynapse Translation that occurs at the postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011840 biolink:NamedThing dilated cardiomyopathy 1M Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1M|dilated cardiomyopathy type 1M|familial isolated dilated cardiomyopathy caused by mutation in CSRP3|CMD1M|CSRP3 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1M OMIM:607482|DOID:0110449|UMLS:C1843808|MESH:C564390|ICD10:I42.0 owl:Class NCBITaxon:2038 biolink:NamedThing Tropheryma tmpte7i6ely_mondo_relaxed.owl PMID:11491348|PMID:1377787|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:2805591 biolink:NamedThing Tropherymataceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009110 biolink:NamedThing dicarboxylic aminoaciduria Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. tmpte7i6ely_mondo_relaxed.owl DCBXA|Dicarboxylicaminoaciduria|glutamate-aspartate Transport defect|dicarboxylic aminoaciduria|glutamate-aspartate transport defect DOID:0060650|SCTID:716747007|Orphanet:2195|ICD10:E72.0|OMIM:222730|GARD:0001855|MESH:C536171|UMLS:C1857253 https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria owl:Class MONDO:0018805 biolink:NamedThing bile duct cyst Cystic dilatation of the hepatic duct or bile duct. tmpte7i6ely_mondo_relaxed.owl choledochal cysts|choledochocele|bile duct cysts|choledochal cyst|congenital cystic dilatation of the biliary tract|congenital choledochal cyst SCTID:398197009|OMIM:603003|Orphanet:480501|GARD:0009229|ICD9:751.69|ICD10:Q44.4|ICD9:576.8|SCTID:397868007|MESH:D015529|DOID:899|NCIT:C2943 owl:Class MONDO:0002887 biolink:NamedThing bile duct disorder A disease involving the bile duct. tmpte7i6ely_mondo_relaxed.owl disorder of bile duct|bile duct disease|disease of bile duct|bile duct disorder|disease or disorder of bile duct|bile duct disease or disorder DOID:4138|SCTID:118926004|NCIT:C96716|UMLS:C0005395|MESH:D001649 owl:Class MONDO:0018959 biolink:NamedThing potassium-aggravated myotonia Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. tmpte7i6ely_mondo_relaxed.owl K-aggravated myotonia|Laryngospasm, Severe Neonatal Episodic|Sodium Channel Muscle Disease|MYOTONIA, POTASSIUM-AGGRAVATED|PAM|Myotonia Congenita, Atypical|Myotonia Congenita, Acetazolamide-Responsive|Potassium aggravated myotonia|Myotonia Permanens|K+-aggravated myotonia|Myotonia Fluctuans Orphanet:612|NCIT:C122788|ICD10:G71.1|SCTID:702355008|GARD:0004459|OMIM:608390|UMLS:C2931826|MESH:C538353 owl:Class MONDO:0001181 biolink:NamedThing secondary corneal edema tmpte7i6ely_mondo_relaxed.owl ICD10:H18.23|ICD9:371.22|UMLS:C0155110|SCTID:27536004|DOID:11032 owl:Class HGNC:11509 biolink:NamedThing SYT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044206 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal recessive tmpte7i6ely_mondo_relaxed.owl Weissenbacher-Zweymuller syndrome, formerly|OSMED|Nance-Insley syndrome|Weissenbacher-Zweymuller syndrome|OSMEDB|chondrodystrophy with sensorineural deafness|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150|Orphanet:1427 owl:Class MONDO:0008975 biolink:NamedThing otospondylomegaepiphyseal dysplasia An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. tmpte7i6ely_mondo_relaxed.owl Insley-Astley syndrome|Nance Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia|Nance-Insley syndrome|otospondylmegaepiphyseal dysplasia|oto-spondylo-mega-epiphyseal dysplasia|OSMED|OSMED syndrome|Nance-Sweeney chondrodysplasia|chondrodystrophy with sensorineural deafness GARD:0004130|DOID:0080026|OMIM:215150|Orphanet:1427|SCTID:254060000|ICD10:Q77.7|OMIMPS:184840|ICD9:759.89 owl:Class HGNC:2972 biolink:NamedThing DNM1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043470 biolink:NamedThing regulation of carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044877 biolink:NamedThing paraneoplastic cerebellar degeneration A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. tmpte7i6ely_mondo_relaxed.owl paraneoplastic cerebellar Degeneration NCIT:C4685 owl:Class HGNC:3498 biolink:NamedThing MECOM tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C52005 biolink:NamedThing Enterostomy tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C15290 biolink:NamedThing Ostomy tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005566 biolink:NamedThing neonatal abstinence syndrome A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. tmpte7i6ely_mondo_relaxed.owl neonatal narcotic withdrawal syndrome|drug withdrawal syndrome in newborn|neonatal withdrawal|NAS SCTID:414819007|EFO:0005799|DOID:9828|NCIT:C87101|MESH:D009357|ICD10:P96.1|UMLS:C0027609|ICD9:760.8|ICD9:779.5 owl:Class MONDO:0005567 biolink:NamedThing substance withdrawal syndrome A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. tmpte7i6ely_mondo_relaxed.owl withdrawal syndrome|substance withdrawal disorder|withdrawal disorder|drug withdrawal syndrome|drug withdrawal|substance withdrawal syndrome|substance withdrawal ICD9:292.0|SCTID:363101005|MESH:D013375|DOID:0060001|NCIT:C35046|EFO:0005800|UMLS:C0152128 owl:Class MONDO:0009517 biolink:NamedThing Donohue syndrome Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. tmpte7i6ely_mondo_relaxed.owl Donohue syndrome|leprechaunism|insulin receptor, defect 1N MESH:D056731|SCTID:111307005|UMLS:C0271695|Orphanet:508|UMLS:C0265344|DOID:0050470|OMIM:246200|ICD10:E34.8|GARD:0006885|ICD9:259.8|NCIT:C84676|SCTID:33559001 owl:Class NCBITaxon:1 biolink:NamedThing root tmpte7i6ely_mondo_relaxed.owl all GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000171 biolink:NamedThing respiration organ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001755 biolink:NamedThing neural crest cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031967 biolink:NamedThing organelle envelope A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031975 biolink:NamedThing envelope A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051971 biolink:NamedThing positive regulation of transmission of nerve impulse Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpte7i6ely_mondo_relaxed.owl activation of transmission of nerve impulse|up regulation of transmission of nerve impulse|stimulation of transmission of nerve impulse|upregulation of transmission of nerve impulse|positive regulation of conduction of nerve impulse|up-regulation of transmission of nerve impulse owl:Class GO:0006941 biolink:NamedThing striated muscle contraction A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. tmpte7i6ely_mondo_relaxed.owl sarcomeric muscle contraction owl:Class GO:0006936 biolink:NamedThing muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002550 biolink:NamedThing hypoglossal nerve neoplasm A neoplasm involving a hypoglossal nerve. tmpte7i6ely_mondo_relaxed.owl hypoglossal nerve neoplasms|tumor of hypoglossal nerve|twelfth cranial nerve neoplasms|neoplasm of the twelfth cranial nerve|tumor of the hypoglossal nerve|hypoglossal nerve neoplasm (disease)|twelfth cranial nerve tumors|XIIth cranial nerve neoplasms|neoplasm of hypoglossal nerve|tumor of the twelfth cranial nerve|neoplasm of the hypoglossal nerve|hypoglossal nerve tumors|twelfth cranial nerve neoplasm|XIIth cranial nerve tumors|tumor of twelfth cranial nerve|twelfth cranial nerve tumor|hypoglossal nerve neoplasm|hypoglossal nerve tumor|neoplasm of twelfth cranial nerve UMLS:C1263903|DOID:3198|NCIT:C5830|SCTID:126978008|ICD9:239.7 owl:Class GO:0008285 biolink:NamedThing negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. tmpte7i6ely_mondo_relaxed.owl negative regulation of cell proliferation|inhibition of cell proliferation|downregulation of cell proliferation|down regulation of cell proliferation|down-regulation of cell proliferation owl:Class GO:0032218 biolink:NamedThing riboflavin transport The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010284 biolink:NamedThing Armfield syndrome X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. tmpte7i6ely_mondo_relaxed.owl Armfield X-linked mental retardation syndrome|syndromic X-linked mental retardation Armfield type|syndromic X-linked intellectual disability Armfield type|mental retardation, X-linked, syndromic, Armfield type|intellectual disability, X-linked, syndromic, Armfield type|mental retardation syndrome, X-linked, Armfield type|Armfield X-linked intellectual disability syndrome|intellectual disability syndrome, X-linked, Armfield type|MRXSA|Armfield syndrome|X-linked intellectual disability, Armfield type OMIM:300261|MESH:C564551|SCTID:719017003|DOID:0050764|Orphanet:85276|UMLS:C1846057|ICD10:Q87.8 owl:Class MONDO:0020491 biolink:NamedThing subcortical band heterotopia A developmental brain abnormality characterized by atypical migration of neurons during cortical development. tmpte7i6ely_mondo_relaxed.owl band heterotopia|Double cortex|heterotopic cortex|HeCo|familial band heterotopia|double cortex syndrome|subcortical laminar heterotopia ICD10:Q04.3|GARD:0001904|OMIM:607432|UMLS:C4284594|OMIM:600348|DOID:0111169|OMIM:300067|GARD:0002250|UMLS:C1848201|NCIT:C116933|Orphanet:99796 Editor note: check this hierarchy https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia owl:Class HGNC:11875 biolink:NamedThing TMPO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003495 biolink:NamedThing ovarian squamous cell neoplasm A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor. tmpte7i6ely_mondo_relaxed.owl ovarian squamous cell tumor|ovary squamous cell neoplasm|ovarian squamous cell neoplasm NCIT:C40092|DOID:5532|UMLS:C1518739 owl:Class UBERON:0001173 biolink:NamedThing biliary tree tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140239 biolink:NamedThing postsynaptic endocytosis A vesicle-mediated transport process in which the postsynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002735 biolink:NamedThing anal canal adenocarcinoma An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. tmpte7i6ely_mondo_relaxed.owl anal canal adenocarcinoma (disease)|adenocarcinoma of anal canal|adenocarcinoma arising in the anal mucosa|adenocarcinoma of the anal canal|adenocarcinoma arising in anal mucosa|anal canal adenocarcinoma anal canal adenocarcinoma (disease) UMLS:C1332259|ICD10:C21.1|Orphanet:424016|NCIT:C7471|SCTID:764845008|HP:0030439|DOID:3692 owl:Class MONDO:0004310 biolink:NamedThing adult embryonal tumor with multilayered rosettes, c19mc-altered An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult embryonal tumor with multilayered rosettes, C19MC-altered|ependymoblastoma of adults|adult ependymoblastoma|embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290|UMLS:C0281330|DOID:7631 owl:Class MONDO:0012688 biolink:NamedThing cataract 17 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene. tmpte7i6ely_mondo_relaxed.owl CATCN3|cataract 17, multiple types|cataract 17, multiple types, with or without microcornea|CRYBB1 early-onset non-syndromic cataract|cataract, congenital nuclear, autosomal recessive 3|CTRCT17|autosomal recessive congenital nuclear cataract 3|early-onset non-syndromic cataract caused by mutation in CRYBB1 Orphanet:98991|OMIM:611544|DOID:0110270|Orphanet:91492|ICD10:Q12.0|UMLS:C1969062|MESH:C566923 owl:Class MONDO:0030335 biolink:NamedThing diarrhea 12, with microvillus atrophy tmpte7i6ely_mondo_relaxed.owl microvillus inclusion disease 2|DIAR12|diarrhea 12, with microvillus atrophy OMIM:619445 owl:Class MONDO:0004719 biolink:NamedThing hard palate cancer A malignant neoplasm involving the hard palate. tmpte7i6ely_mondo_relaxed.owl cancer of hard palate|hard palate cancer|malignant hard palate tumor|malignant hard palate neoplasm|malignant tumor of the hard palate|malignant neoplasm of the hard palate|malignant tumour of hard palate|malignant neoplasm of hard palate|malignant tumor of hard palate|hard palate NCIT:C3528|UMLS:C0153375|ICD10:C05.0|DOID:9149|SCTID:363387004|ICD9:145.2 owl:Class MONDO:0005286 biolink:NamedThing palatal neoplasm A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula. tmpte7i6ely_mondo_relaxed.owl secondary palate neoplasm|tumor of the palate|neoplasm of secondary palate|tumor of palate|neoplasm of the palate|secondary palate neoplasm (disease)|palate tumor|neoplasm of palate|palate neoplasm|tumor of secondary palate|secondary palate tumor MESH:D010157|NCIT:C4402|SCTID:126805009|UMLS:C0030215|EFO:0003849 owl:Class MONDO:0001090 biolink:NamedThing acute anterolateral myocardial infarction Acute form of anterolateral myocardial infarction. tmpte7i6ely_mondo_relaxed.owl acute anterolateral myocardial infarction|anterolateral myocardial infarction, acute|acute myocardial infarction of anterolateral wall ICD9:410.02|SCTID:70211005|ICD9:410.01|DOID:10651|ICD9:410.0|ICD9:410.00|UMLS:C0155627 Editor note: TODO: positional superclass owl:Class MONDO:0006652 biolink:NamedThing anterolateral myocardial infarction Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. tmpte7i6ely_mondo_relaxed.owl infarctions, anteroseptal myocardial|acute anterior wall myocardial infarction|anterolateral myocardial infarction|myocardial infarctions, anterolateral|myocardial infarction, anterior wall|infarction, anteroseptal myocardial|myocardial infarction, anterolateral|anteroseptal myocardial infarctions|infarctions, anterolateral myocardial|myocardial infarctions, anteroseptal|infarction, anterolateral myocardial|anteroseptal myocardial infarction|anterolateral myocardial infarctions|myocardial infarction, anteroseptal MedDRA:10068109|DOID:5845|MESH:D056988|EFO:1000812|UMLS:C0262564 Editor note: todo - create uberon class owl:Class MONDO:0022907 biolink:NamedThing cutaneous sclerosis tmpte7i6ely_mondo_relaxed.owl GARD:0009752 https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis owl:Class ENVO:01000219 biolink:NamedThing anthropogenic terrestrial biome An anthropogenic terrestrial biome is a terrestrial biome which has community structures determined by human activity. tmpte7i6ely_mondo_relaxed.owl human biome|anthrome owl:Class ENVO:00000446 biolink:NamedThing terrestrial biome A biome which is primarily or completely situated on a landmass. tmpte7i6ely_mondo_relaxed.owl terrestrial realm owl:Class UBERON:0012487 biolink:NamedThing vaginal sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004590 biolink:NamedThing sphincter muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002204 biolink:NamedThing Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. tmpte7i6ely_mondo_relaxed.owl Blood clot in artery of lung MSH:D011655|SNOMEDCT_US:59282003|UMLS:C0034065 human_phenotype owl:Class HP:0030875 biolink:NamedThing Abnormality of pulmonary circulation A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. tmpte7i6ely_mondo_relaxed.owl Abnormality of respiratory circulation|Abnormal pulmonary circulation UMLS:C4280730 human_phenotype owl:Class MONDO:0024572 biolink:NamedThing immunodeficiency-related disorder A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. tmpte7i6ely_mondo_relaxed.owl Immunodepression-related disorder|immunodeficiency-related disorder|Immunosuppression-related disorder|Immunosuppression disorders NCIT:C35686|UMLS:C1334159 owl:Class MONDO:0002193 biolink:NamedThing Bartholin gland benign neoplasm A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl Bartholin gland neoplasm|major vestibular gland benign neoplasm|tumor of Bartholin's gland SCTID:189130001|DOID:2068 owl:Class MONDO:0021114 biolink:NamedThing Bartholin gland neoplasm A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl tumor of the Bartholin's gland|Bartholin's gland tumor|Bartholin's gland neoplasm|tumor of Bartholin's gland|major vestibular gland tumor|neoplasm of major vestibular gland|tumor of major vestibular gland|major vestibular gland neoplasm|Bartholin gland neoplasm|major vestibular gland neoplasm (disease)|neoplasm of the Bartholin's gland|neoplasm of Bartholin's gland NCIT:C6434 owl:Class MONDO:0016587 biolink:NamedThing arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. tmpte7i6ely_mondo_relaxed.owl ARVD|arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic RVD|right ventricular dysplasia|arrhythmogenic right ventricular dysplasia/cardiomyopathy|ARVC cardiomyopathy|ARVC|arrhythmogenic right ventricular dysplasia UMLS:CN221565|GARD:0005847|MedDRA:10058093|UMLS:C0349788|NCIT:C84571|ICD9:425.4|Orphanet:217656|OMIM:604401|ICD10:I42.8|Orphanet:247|MESH:D019571|DOID:0050431|SCTID:281170005|UMLS:CN239850 owl:Class MONDO:0018742 biolink:NamedThing familial gastric type 1 neuroendocrine tumor tmpte7i6ely_mondo_relaxed.owl hereditary type 1 gNET|familial type 1 gNET UMLS:CN242170|Orphanet:464756 Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859 owl:Class MONDO:0015062 biolink:NamedThing gastric neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. tmpte7i6ely_mondo_relaxed.owl gastric NET G1/2|gastric well differentiated endocrine tumor/carcinoma|gastric well differentiated endocrine tumor|gastric neuroendocrine tumor|gastric NET|GNET|well-differentiated neuroendocrine tumors of the stomach UMLS:C3272399|NCIT:C95871|ONCOTREE:SWDNET|UMLS:CN197355 owl:Class MONDO:0000462 biolink:NamedThing eye adnexa disorder A disease involving the ocular adnexa. tmpte7i6ely_mondo_relaxed.owl ocular adnexa disease or disorder|disorder of ocular adnexa|ocular adnexa disease|disease of ocular adnexa|disease or disorder of ocular adnexa UMLS:C1290855|SCTID:118941004|ICD10:H00.H06|DOID:0050815 owl:Class MONDO:0000295 biolink:NamedThing acanthocephaliasis An disease or disorder caused by infection with Acanthocephala. tmpte7i6ely_mondo_relaxed.owl infection by thorny-headed worm|Acanthocephala disease or disorder|disease due to Acanthocephala|Acanthocephala caused disease or disorder|Acanthocephala infectious disease|disease caused by Acanthocephala|infection by Acanthocephala DOID:0050254|SCTID:105713003|UMLS:C0277331 owl:Class UBERON:0005610 biolink:NamedThing iliac vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003045 biolink:NamedThing anal gland neoplasm Tumors or cancer of the anal gland. tmpte7i6ely_mondo_relaxed.owl gland of anal canal neoplasm|neoplasm of gland of anal canal|tumor of gland of anal canal|gland of anal canal neoplasm (disease)|gland of anal canal tumor DOID:4550|UMLS:C0002757|MESH:D000694|EFO:1000804 owl:Class UBERON:0034764 biolink:NamedThing remnant of cardiac valve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14255 biolink:NamedThing BRPF1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22562 biolink:NamedThing anilines Any aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22712 biolink:NamedThing benzenes Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4206 biolink:NamedThing OPN1MW tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003261 biolink:NamedThing papillary meningioma of the cerebellum A papillary meningioma that affects the cerebellum. tmpte7i6ely_mondo_relaxed.owl papillary meningioma of the cerebellum|cerebellum papillary meningioma|cerebellar papillary meningioma|papillary meningioma of cerebellum DOID:5057|NCIT:C5270|UMLS:C1332902 owl:Class MONDO:0002913 biolink:NamedThing cerebellar neoplasm A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 tmpte7i6ely_mondo_relaxed.owl cerebellar tumor|cerebellum neoplasm (disease)|cerebellum cancer|cerebellum tumor|tumor of the cerebellum|malignant tumor of cerebellum|neoplasm of cerebellum|neoplasm of the cerebellum|tumor of cerebellum|cerebellum neoplasm|cerebellar neoplasm NCIT:C2935|SCTID:449420002|DOID:4205|MESH:D002528|ICD10:C71.6|ICD9:191.6|SCTID:126960003|NCIT:C3569|UMLS:C0007762 owl:Class MONDO:0032864 biolink:NamedThing intellectual developmental disorder with speech delay, autism, and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES|IDDSADF OMIM:618672 owl:Class MONDO:0020046 biolink:NamedThing autosomal recessive degenerative and progressive cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl Orphanet:98098|UMLS:CN229259 owl:Class MONDO:0016355 biolink:NamedThing semilobar holoprosencephaly Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. tmpte7i6ely_mondo_relaxed.owl Orphanet:220386|OMIM:610829|OMIM:157170|ICD10:Q04.2|OMIM:609637 owl:Class MONDO:0008803 biolink:NamedThing Antley-Bixler syndrome Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. tmpte7i6ely_mondo_relaxed.owl multisynostotic osteodysgenesis with long bone fractures|trapezoidocephaly synostosis syndrome|osteodysgenesis, multisynostotic with fractures|osteodysgenesis, multisynostotic, with fractures|Antley Bixler syndrome|trapezoidocephaly-synostosis syndrome OMIM:201750|GARD:0005826|Orphanet:83|SCTID:62964007|DOID:0050462|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome owl:Class MONDO:0012426 biolink:NamedThing immunodeficiency 25 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency due to defect in CD3-zeta|CD247 severe combined immunodeficiency (disease)|immunodeficiency type 25|IMD25|immunodeficiency 25|CD3zeta deficiency|severe combined immunodeficiency (disease) caused by mutation in CD247 DOID:0060007|Orphanet:169160|UMLS:C1857798|OMIM:610163|MESH:C565712 owl:Class MONDO:0015703 biolink:NamedThing T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta tmpte7i6ely_mondo_relaxed.owl T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta ICD10:D81.2|Orphanet:169160|OMIM:615615|OMIM:615617|OMIM:610163 owl:Class GO:0099524 biolink:NamedThing postsynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005977 biolink:NamedThing tabes dorsalis A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. tmpte7i6ely_mondo_relaxed.owl syphilitic myelopathy|tabes dorsalis - neurosyphilis|posterior spinal sclerosis EFO:0007505|NCIT:C35057|UMLS:C0039223|GARD:0008730|ICD9:094.0|SCTID:316841006|DOID:10027|MESH:D013606|ICD10:A52.11 owl:Class MONDO:0004944 biolink:NamedThing neurosyphilis Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. tmpte7i6ely_mondo_relaxed.owl tertiary neurosyphilis|late neurosyphilis|neurosyphilis UMLS:C0027927|ICD10:A52.3|SCTID:26039008|ICD9:094.9|DOID:9988|NCIT:C84935|GARD:0008729|ICD9:094|ICD9:094.89 owl:Class MONDO:0017483 biolink:NamedThing humeral agenesis/hypoplasia, bilateral tmpte7i6ely_mondo_relaxed.owl humeral intercalary meromelia, bilateral ICD10:Q71.8|Orphanet:295063 owl:Class MONDO:0017440 biolink:NamedThing humeral agenesis/hypoplasia Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist. tmpte7i6ely_mondo_relaxed.owl congenital absence of humerus|humeral intercalary meromelia|congenital hypoplasia of humerus ICD10:Q71.8|Orphanet:294973 owl:Class UBERON:0002209 biolink:NamedThing fibrous joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000456 biolink:NamedThing cerebral creatine deficiency syndrome Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. tmpte7i6ely_mondo_relaxed.owl cerebral creatine deficiency syndrome|creatine deficiency syndrome|CDS|CCDS ICD10:E72.8|UMLS:CN227588|DOID:0050798|Orphanet:79172|OMIMPS:300352 owl:Class ECTO:9000364 biolink:NamedThing exposure to tetracycline An exposure to tetracycline. tmpte7i6ely_mondo_relaxed.owl exposure to tetracycline owl:Class ECTO:9000044 biolink:NamedThing exposure to ketone An exposure to ketone. tmpte7i6ely_mondo_relaxed.owl exposure to ketone owl:Class MONDO:0017416 biolink:NamedThing postpoliomyelitis syndrome Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. tmpte7i6ely_mondo_relaxed.owl postpoliomyelitis sequelae|post polio syndrome|postpolio sequelae|post-polio muscular atrophy|postpoliomyelitis syndrome|postpolio syndrome|post-polio sequelae|post-poliomyelitic syndrome|postpoliomyelitic syndrome|polio late effects ICD10:G14|GARD:0004454|UMLS:C0080040|DOID:4952|Orphanet:2942|SCTID:31097004|MESH:D016262|EFO:0007454 owl:Class NCBITaxon:71583 biolink:NamedThing Balantidiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33833 biolink:NamedThing Vestibuliferida tmpte7i6ely_mondo_relaxed.owl Vestibulifera GC_ID:1 ncbi_taxonomy owl:Class HGNC:25118 biolink:NamedThing OTULIN tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046394 biolink:NamedThing carboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpte7i6ely_mondo_relaxed.owl carboxylic acid biosynthesis|carboxylic acid anabolism|carboxylic acid formation|carboxylic acid synthesis owl:Class GO:1901020 biolink:NamedThing negative regulation of calcium ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl down-regulation of calcium ion transmembrane transporter activity|downregulation of calcium ion transmembrane transporter activity|inhibition of calcium ion transmembrane transporter activity|down regulation of calcium ion transmembrane transporter activity owl:Class MONDO:0011518 biolink:NamedThing Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. tmpte7i6ely_mondo_relaxed.owl hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|Wiedemann-Steiner syndrome|A syndrome of abnormal facies, short stature, and psychomotor retardation|WDSTS|hairy elbows, short stature, Facial Dysmorphism, and developmental delay|Wiedemann Grosse Dibbern syndrome GARD:0005565|OMIM:605130|MESH:C536704|Orphanet:319182|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome owl:Class FOODON:00001327 biolink:NamedThing pu dong Pu dong is fermented crab tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-1816-4260 owl:Class GO:0070727 biolink:NamedThing cellular macromolecule localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpte7i6ely_mondo_relaxed.owl cellular macromolecule localisation owl:Class MONDO:0015771 biolink:NamedThing mosaic trisomy 7 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy type 7|Mosaic trisomy chromosome 7|trisomy 7 mosaicism GARD:0005354|Orphanet:1747|ICD10:Q92.1|UMLS:CN036006|MESH:C537822|SCTID:764630003 https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7 owl:Class FOODON:03460177 biolink:NamedThing plant seed or nut food product tmpte7i6ely_mondo_relaxed.owl nut or seed added http://www.langual.org/langual_thesaurus.asp?termid=H0177 LanguaL curation note: With the exception of peanut (see *PEANUT OR PEANUT BUTTER ADDED*), used when a nut or seed ingredient is the second ingredient in order of predominance. This disjunction is provided for food indexers who used the LanguaL category per guidelines. Currently, by specifying the more specific nut or seed as ingredient instead, this category can be inferred. owl:Class FOODON:00001015 biolink:NamedThing plant food product This class includes food products which are derived from or produced by a plant. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0090205 biolink:NamedThing positive regulation of cholesterol metabolic process Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0032309 biolink:NamedThing Abnormal granulocyte count Any deviation from the normal cell count per volume of granulocytes in the blood circulation. tmpte7i6ely_mondo_relaxed.owl 2019-02-14 10:54:57+00:00 Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. peter human_phenotype owl:Class MONDO:0016188 biolink:NamedThing qualitative or quantitative defects of alphaB-cristallin tmpte7i6ely_mondo_relaxed.owl Orphanet:209044 owl:Class MONDO:0013315 biolink:NamedThing retinitis pigmentosa 57 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 57|retinitis pigmentosa caused by mutation in PDE6G|PDE6G retinitis pigmentosa|retinitis pigmentosa 57|RP57 Orphanet:791|ICD10:H35.5|UMLS:C3150821|DOID:0110407|OMIM:613582 owl:Class SO:0001508 biolink:NamedThing alteration_attribute An attribute of alteration of one or more chromosomes. tmpte7i6ely_mondo_relaxed.owl alteration attribute owl:Class MONDO:0007388 biolink:NamedThing congenitally short costocoracoid ligament Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. tmpte7i6ely_mondo_relaxed.owl fixation of the scapula to the first rib by a congenitally short costocoracoid ligament|costocoracoid ligament, congenitally short|congenital shortness of the costocoracoid ligament|costocoracoid ligament congenitally short OMIM:122580|MESH:C536448|ICD10:Q68.8|GARD:0001551|SCTID:725101002|Orphanet:2391 https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short owl:Class MONDO:0007890 biolink:NamedThing lentiginosis, centrofacial neurodysraphic tmpte7i6ely_mondo_relaxed.owl lentiginosis, Touraine type|lentiginosis, centrofacial neurodysraphic MESH:C563630|UMLS:C1835484|OMIM:151000 owl:Class NCBITaxon:7148 biolink:NamedThing Nematocera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7147 biolink:NamedThing Diptera tmpte7i6ely_mondo_relaxed.owl flies GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000056 biolink:NamedThing ureter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051447 biolink:NamedThing negative regulation of meiotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl inhibition of progression through meiotic cell cycle|negative regulation of meiotic cell cycle progression|negative regulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle|downregulation of progression through meiotic cell cycle owl:Class MONDO:0003601 biolink:NamedThing mediastinum liposarcoma A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinal liposarcoma|mediastinum liposarcoma|liposarcoma of mediastinum|lip mediastinum sarcoma|liposarcoma of the mediastinum UMLS:C1334663|DOID:5713|NCIT:C6614 owl:Class MONDO:0002852 biolink:NamedThing mediastinum sarcoma A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of mediastinum|sarcoma of the mediastinum|mediastinum sarcoma|mediastinal sarcoma UMLS:C1334678|NCIT:C6606|DOID:4050 owl:Class MONDO:0011244 biolink:NamedThing Marshall-Smith syndrome Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth. tmpte7i6ely_mondo_relaxed.owl MRSHSS|Marshall-Smith syndrome|accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|Marshall-SMITH syndrome GARD:0006985|MESH:C536026|ICD10:Q87.3|ICD9:759.89|UMLS:C0265211|SCTID:73284007|Orphanet:561|OMIM:602535|DOID:0050858 https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome owl:Class MONDO:0004686 biolink:NamedThing lattice corneal dystrophy tmpte7i6ely_mondo_relaxed.owl lattice corneal dystrophy (disease)|lattice corneal dystrophy|familial amyloid neuropathy, Finnish type lattice corneal dystrophy (disease) SCTID:1192004|HP:0001149|ICD9:277.39|UMLS:C0155127|ICD9:357.4|DOID:8943 Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II owl:Class GO:0051349 biolink:NamedThing positive regulation of lyase activity Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpte7i6ely_mondo_relaxed.owl activation of lyase activity|stimulation of lyase activity|upregulation of lyase activity|up regulation of lyase activity|up-regulation of lyase activity|lyase activator owl:Class MONDO:0017337 biolink:NamedThing inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. tmpte7i6ely_mondo_relaxed.owl ICD10:E27.1|Orphanet:289548|SCTID:764960005 owl:Class MONDO:0015129 biolink:NamedThing chronic primary adrenal insufficiency A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. tmpte7i6ely_mondo_relaxed.owl autoimmune adrenalitis|primary adrenocortical insufficiency|Addison's disease|primary Addison's disease|Addison disease, chronic adrenal insufficiency|Addison disease|primary adrenal insufficiency, chronic|adrenal gland hypofunction|CPAI|hypoadrenocorticism, familial|hypoadrenocorticism familial|chronic adrenocorticoid insufficiency|adrenal hypoplasia|primary hypoadrenalism|adrenal aplasia|autoimmune Addison disease|classic Addison's disease|autoimmune primary adrenal insufficiency ICD9:255.41|OMIM:103230|UMLS:C0271737|OMIM:240200|Orphanet:101959|SCTID:373662000|DOID:13774|MedDRA:10001130|NCIT:C26689|NCIT:C113814|ICD10:E27.1|GARD:0005740|Orphanet:85138 https://github.com/monarch-initiative/mondo/issues/1218 owl:Class MONDO:0004081 biolink:NamedThing extrahepatic bile duct clear cell adenocarcinoma A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells. tmpte7i6ely_mondo_relaxed.owl clear cell adenocarcinoma of the bile duct|bile duct clear cell adenocarcinoma|bile duct clear cell carcinoma|clear cell adenocarcinoma of bile duct|extrahepatic bile duct clear cell adenocarcinoma|clear cell bile duct adenocarcinoma NCIT:C5775|UMLS:C0861855|DOID:7032 owl:Class NCBITaxon:2732459 biolink:NamedThing Resentoviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020464 biolink:NamedThing euryblepharon Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment. tmpte7i6ely_mondo_relaxed.owl SCTID:400954002|ICD10:Q10.1|UMLS:CN207327|Orphanet:99172 owl:Class MONDO:0001269 biolink:NamedThing scleral disorder A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. tmpte7i6ely_mondo_relaxed.owl sclera disorder|disorder of sclera|disease of sclera|sclera disease|sclera disease or disorder|disease or disorder of sclera|scleral disorder DOID:11343|ICD10:H15|NCIT:C79717|SCTID:33064008|ICD10:H15.9|UMLS:C0036412|MESH:D015422|ICD9:379.19 owl:Class MONDO:0012303 biolink:NamedThing migraine with or without aura, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 8|Mgr8|migraine with or without aura, susceptibility to, 8 OMIM:609570 owl:Class MONDO:0007535 biolink:NamedThing emphysema, hereditary pulmonary tmpte7i6ely_mondo_relaxed.owl emphysema, hereditary pulmonary OMIM:130700|UMLS:C1851718|MESH:C565057 owl:Class MONDO:0004497 biolink:NamedThing tertiary syphilis A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). tmpte7i6ely_mondo_relaxed.owl late tertiary syphilis|late syphilis|tertiary syphilis NCIT:C128414|DOID:8200|ICD10:A52|ICD10:A52.9|ICD9:095.8|SCTID:72083004|UMLS:C0153188|ICD9:095.9|ICD10:A52.3|ICD9:097.0|MESH:C536774 owl:Class UBERON:2001053 biolink:NamedThing future internal carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042133 biolink:NamedThing neurotransmitter metabolic process The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. tmpte7i6ely_mondo_relaxed.owl neurotransmitter metabolism owl:Class MONDO:0030953 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 tmpte7i6ely_mondo_relaxed.owl SSFSC2|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 OMIM:619184 owl:Class MONDO:0005183 biolink:NamedThing ovarian cystadenoma A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells. tmpte7i6ely_mondo_relaxed.owl cystadenoma of ovary|simple cystoma of ovary|benign cystadenoma of ovary|benign ovarian cystadenoma|simple cystoma of the ovary|ovary cystadenoma|benign cystadenoma of the ovary|simple ovarian cystoma|cystadenoma of the ovary|cystoma serosum simplex|ovarian cystadenoma DOID:3269|NCIT:C4060|SCTID:198297004|ICD9:620.2|EFO:0002511|UMLS:C0346169 owl:Class UBERON:0004177 biolink:NamedThing hemopoietic organ tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001563 biolink:NamedThing increased mass A mass which is higher than normal or average. tmpte7i6ely_mondo_relaxed.owl high mass|large mass owl:Class PATO:0000125 biolink:NamedThing mass A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003746 biolink:NamedThing ciliary body spindle cell melanoma A spindle cell melanoma that involves the ciliary body. tmpte7i6ely_mondo_relaxed.owl spindle cell melanoma of ciliary body|spindle cell melanoma of the ciliary body|ciliary body spindle cell melanoma DOID:6043|UMLS:C1333052|NCIT:C6117 owl:Class MONDO:0006427 biolink:NamedThing spindle cell melanoma A melanoma characterized by the presence of malignant spindle-shaped melanocytes. tmpte7i6ely_mondo_relaxed.owl spitzoid malignant melanoma|malignant spindle cell melanoma|desmoplastic melanoma|spindle cell melanoma|spindle cell malignant melanoma UMLS:C0334444|DOID:3162|ICDO:8772/3|NCIT:C4237|EFO:1000546|SCTID:403923002 owl:Class MONDO:0004461 biolink:NamedThing vaginal tubulovillous adenoma An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern. tmpte7i6ely_mondo_relaxed.owl vaginal tubulovillous adenoma DOID:8104|NCIT:C40258|UMLS:C1519933 owl:Class MONDO:0003434 biolink:NamedThing vaginal adenoma A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation. tmpte7i6ely_mondo_relaxed.owl vagina adenoma|vaginal adenoma UMLS:C1519913|NCIT:C40256|DOID:5402 owl:Class MONDO:0021299 biolink:NamedThing carcinoma in situ of extrahepatic bile duct A in situ carcinoma that involves the extrahepatic bile duct. tmpte7i6ely_mondo_relaxed.owl stage 0 carcinoma of the extrahepatic bile duct|stage 0 carcinoma of extrahepatic bile duct|carcinoma in situ of extrahepatic bile ducts|extrahepatic bile duct carcinoma in situ|stage 0 extrahepatic bile duct carcinoma|extrahepatic bile duct in situ carcinoma|carcinoma in situ of extrahepatic bile duct|stage 0 extrahepatic bile duct carcinoma in situ|stage 0 extrahepatic bile duct cancer|carcinoma in situ of the extrahepatic bile duct|extrahepatic bile duct cancer stage 0|carcinoma in situ of extrahepatic biliary ducts|extrahepatic biliary duct carcinoma in situ NCIT:C4442|SCTID:92589000|UMLS:C0345914 owl:Class MONDO:0000374 biolink:NamedThing bile duct carcinoma in situ A carcinoma in situ involving a bile duct. tmpte7i6ely_mondo_relaxed.owl stage 0 bile duct carcinoma|carcinoma in situ of bile duct|bile duct in situ carcinoma DOID:0050613 owl:Class MONDO:0006946 biolink:NamedThing renal osteodystrophy Abnormalities of bone mineral metabolism associated with chronic kidney disease. tmpte7i6ely_mondo_relaxed.owl rickets, renal|renal Osteodystrophies|renal rickets|Osteodystrophies, renal|osteodystrophy, renal MedDRA:10038489|NCIT:C114827|ICD9:588.0|SCTID:16726004|UMLS:C0035086|MESH:D012080|DOID:13068|ICD10:N25.0|EFO:1001152|GARD:0007551 owl:Class MONDO:0005520 biolink:NamedThing rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. tmpte7i6ely_mondo_relaxed.owl active rickets|rachitis|nutritional rickets|hypovitaminosis D|rickets|rickets (disease)|vitamin D hydroxylation-deficient rickets|vitamin D deficiency disease|vitamin-D deficiency rickets rickets (disease) Orphanet:289157|OMIM:264700|OMIM:277440|ICD9:268.0|OMIM:600081|NCIT:C26878|EFO:0005583|SCTID:41345002|GARD:0005700|HP:0002748|MESH:D012279|ICD10:E55.0|OMIM:600785|DOID:10609|UMLS:C0035579 owl:Class HGNC:29557 biolink:NamedThing NEXN tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019627 biolink:NamedThing urea metabolic process The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2. tmpte7i6ely_mondo_relaxed.owl urea metabolism owl:Class UBERON:0003581 biolink:NamedThing eyelid connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003566 biolink:NamedThing head connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004924 biolink:NamedThing submucosa of pharynx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002697 biolink:NamedThing regulation of immune effector process Any process that modulates the frequency, rate, or extent of an immune effector process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024882 biolink:NamedThing secondary neoplasm A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. tmpte7i6ely_mondo_relaxed.owl secondary neoplasm|secondary tumor NCIT:C36255 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0023370 biolink:NamedThing neoplastic disease or syndrome Either an isolated neoplasm or a syndrome with neoplasm as a major feature. tmpte7i6ely_mondo_relaxed.owl neoplastic disorder|neoplastic disease owl:Class PATO:0001407 biolink:NamedThing mononucleate A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0025131 biolink:NamedThing plant anatomical entity An anatomical entity that is or was part of a plant. tmpte7i6ely_mondo_relaxed.owl 植物 解剖学（形態）的実体 (Japanese, exact)|entidad anatómica vegetal (Spanish, exact) PO_GIT:224 Includes both material entities such as plant structures and immaterial entities such as plant anatomical spaces. CARO:0000000 'anatomical entity' is defined as: A part of a cellular organism that is either an immaterial entity or a material entity with granularity aboove the level of a protein complex. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. Refers to BFO:0000004 'independent continuant'. rwalls 2010-11-15T11:41:38Z plant_anatomy owl:Class GO:0032386 biolink:NamedThing regulation of intracellular transport Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008712 biolink:NamedThing acrocraniofacial dysostosis Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl acrocraniofacial dysostosis|Kaplan Plauchu Fitch syndrome|Kaplan-Plauchu-Fitch syndrome GARD:0003075|OMIM:201050|Orphanet:949|UMLS:C1860145|MESH:C536892|SCTID:720418008|ICD10:Q87.0 owl:Class MONDO:0018083 biolink:NamedThing transient tyrosinemia of the newborn Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. tmpte7i6ely_mondo_relaxed.owl transient tyrosinemia of the neonate|tyrosine-oxidase temporary deficiency|transient neonatal tyrosinemia GARD:0005388|ICD10:P74.5|UMLS:CN204402|Orphanet:3402 owl:Class MONDO:0017307 biolink:NamedThing disorder of tyrosine metabolism tmpte7i6ely_mondo_relaxed.owl ICD9:270.2|SCTID:37200009|ICD10:E70.2|Orphanet:284818|UMLS:CN202881 owl:Class GO:0046189 biolink:NamedThing phenol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpte7i6ely_mondo_relaxed.owl phenol-containing compound synthesis|phenol-containing compound anabolism|phenol-containing compound formation|phenol-containing compound biosynthesis owl:Class MONDO:0008558 biolink:NamedThing autoimmune thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. tmpte7i6ely_mondo_relaxed.owl idiopathic purpura|Ideopath thrombocytopenic pur|immune thrombocytopenia|ITP|thrombocytopenic purpura, autoimmune|werlhof's disease|idiopathic thrombocytopenia|AITP|idiopathic thrombocytopenia purpura|immune thrombocytopenic purpura|autoimmune thrombocytopenic purpura|thrombocytopenic purpura autoimmune|primary thrombocytopenic purpura|idiopathic thrombocytopenic purpura ICD9:287.31|DOID:8924|Orphanet:3002|OMIM:188030|ICD10:D69.3|GARD:0005194|MedDRA:10021245|NCIT:C3446|EFO:0007160 owl:Class MONDO:0019098 biolink:NamedThing autoimmune thrombocytopenia An autoimmune form of thrombocytopenia. tmpte7i6ely_mondo_relaxed.owl ICD10:D69.3|Orphanet:71203|MedDRA:10050245|UMLS:C0242584|SCTID:128091003 owl:Class UBERON:0001004 biolink:NamedThing respiratory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033671 biolink:NamedThing spermatogenic failure 45 tmpte7i6ely_mondo_relaxed.owl SPGF45 OMIM:619094 owl:Class MONDO:0032579 biolink:NamedThing warburg-cinotti syndrome tmpte7i6ely_mondo_relaxed.owl WARBURG-CINOTTI SYNDROME|WRCN OMIM:618175 owl:Class MONDO:0002047 biolink:NamedThing pulmonary systemic sclerosis tmpte7i6ely_mondo_relaxed.owl scleroderma lung disease|lung involvement in systemic sclerosis|scleroderma of lung|lung disease with systemic sclerosis SCTID:196133001|ICD10:M34.81|ICD9:517.2|DOID:1578|UMLS:C0339904 owl:Class MONDO:0012300 biolink:NamedThing prostate cancer, hereditary, 6 tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, type 6|HPC6|prostate cancer, hereditary, 6 OMIM:609558|UMLS:C1836005|MESH:C563699 owl:Class UBERON:0000981 biolink:NamedThing femur tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011426 biolink:NamedThing aceruloplasminemia Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. tmpte7i6ely_mondo_relaxed.owl aceruloplasminemia|hypoceruloplasminemia|systemic hemosiderosis due to aceruloplasminemia|ceruloplasmin deficiency|familial apoceruloplasmin deficiency|hemosiderosis, systemic, due to aceruloplasminemia|hereditary ceruloplasmin deficiency ICD10:G23.0|OMIM:604290|DOID:0050711|ICD9:277.6|GARD:0009499|SCTID:124224004|Orphanet:48818 https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia owl:Class MONDO:0001546 biolink:NamedThing hypermobility of coccyx tmpte7i6ely_mondo_relaxed.owl hypermobility of the coccyx|coccygeal hypermobility syndrome SCTID:202809009|DOID:12537|UMLS:C0158295|ICD9:724.71 owl:Class MONDO:0005095 biolink:NamedThing spondyloarthropathy A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. tmpte7i6ely_mondo_relaxed.owl spondyloarthritis|spondylarthrosis|seronegative spondyloarthropathy|spondarthropathy|spondylarthropathy GARD:0004971|SCTID:372109003|DOID:1123|EFO:0000706|OMIM:106300|NCIT:C116778 owl:Class MONDO:0017992 biolink:NamedThing autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis tmpte7i6ely_mondo_relaxed.owl Orphanet:329173|UMLS:CN237438|OMIM:615895 owl:Class MONDO:0004938 biolink:NamedThing substance dependence The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence. tmpte7i6ely_mondo_relaxed.owl dependence SCTID:2403008|DOID:9973|NCIT:C35458|ICD9:304.60 owl:Class MONDO:0015499 biolink:NamedThing paralytic facial malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:156224|ICD10:Q87.0 owl:Class MONDO:0015961 biolink:NamedThing genetic head and neck malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:183583 owl:Class MONDO:0011508 biolink:NamedThing lymphoma, non-Hodgkin, familial tmpte7i6ely_mondo_relaxed.owl lymphoma, non-Hodgkin, familial|non-Hodgkin lymphoma SCTID:118601006|Orphanet:547|UMLS:C0024305|OMIM:605027|ICD9:202.80 owl:Class GO:0098660 biolink:NamedThing inorganic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl transmembrane inorganic ion transport|inorganic ion membrane transport owl:Class MONDO:0004197 biolink:NamedThing male urethral cancer A cancer involving a male urethra. tmpte7i6ely_mondo_relaxed.owl male urethra cancer|cancer of male urethra|Male urethral malignant neoplasm|malignant male urethra neoplasm|malignant neoplasm of male urethra NCIT:C39867|UMLS:C1518164|DOID:736 owl:Class CL:0000766 biolink:NamedThing myeloid leukocyte A cell of the monocyte, granulocyte, or mast cell lineage. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0046886 biolink:NamedThing positive regulation of hormone biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpte7i6ely_mondo_relaxed.owl up regulation of hormone biosynthetic process|stimulation of hormone biosynthetic process|activation of hormone biosynthetic process|positive regulation of hormone formation|positive regulation of hormone anabolism|upregulation of hormone biosynthetic process|up-regulation of hormone biosynthetic process|positive regulation of hormone biosynthesis|positive regulation of hormone synthesis owl:Class UBERON:0004453 biolink:NamedThing metacarpus region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006231 biolink:NamedThing gastrointestinal hamartoma A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps. tmpte7i6ely_mondo_relaxed.owl gastrointestinal hamartoma NCIT:C96475|EFO:1000280|UMLS:C3272802 owl:Class MONDO:0024292 biolink:NamedThing gastrointestinal polyp A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. tmpte7i6ely_mondo_relaxed.owl GI polyp|gastrointestinal polyp|gastrointestinal tract polyp NCIT:C35516|UMLS:C0744333 owl:Class MONDO:0006849 biolink:NamedThing mastitis Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. tmpte7i6ely_mondo_relaxed.owl inflammatory breast disease|inflammatory disease of breast|breast inflammation|inflammation of breast|breast infection MedDRA:10026883|SCTID:45198002|EFO:1001034|UMLS:C0024894|DOID:10690|MESH:D008413|NCIT:C53662|UMLS:C0392317 owl:Class MONDO:0022799 biolink:NamedThing cold urticaria Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications. tmpte7i6ely_mondo_relaxed.owl cold contact urticaria|urticaria idiopathic cold|primary idiopathic cold urticaria EFO:1001881|UMLS:C0221207|SCTID:74774004|GARD:0006131 https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria owl:Class NCBITaxon:943 biolink:NamedThing Ehrlichia tmpte7i6ely_mondo_relaxed.owl Ehrlichia (subgen. Cowdria)|Cowdria|possibly "Donatienella" Rousselot 1948|Kurlovia|Nicollea|Rickettsia (subgen. Ehrlichia) GC_ID:11|PMID:11414267|PMID:11760958 NCBITaxon:778 ncbi_taxonomy owl:Class MONDO:0007564 biolink:NamedThing pilomatrixoma Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome. tmpte7i6ely_mondo_relaxed.owl pilomatricoma|pilomatrixoma|pilomatrixoma, benign|benign pilomatricoma|PTR|benign hair follicle neoplasm|calcifying epithelioma of Malherbe|epithelioma calcificans of Malherbe|benign pilomatrixoma|calcifying Epitherlioma of Malherbe EFO:0009082|GARD:0009452|DOID:5374|ICD10:C44.3|ICD10:C44.6|Orphanet:91414|SCTID:274901004|MESH:D018296|UMLS:C0206711|UMLS:C0853031|ICDO:8110/0|MedDRA:10035040|OMIM:132600|NCIT:C7368 https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma owl:Class MONDO:0003413 biolink:NamedThing hair follicle neoplasm A benign or malignant neoplasm arising from the hair follicle. tmpte7i6ely_mondo_relaxed.owl neoplasm of the hair follicle|hair follicle tumor|neoplasm of hair follicle|hair matrix tumor|tumor of hair follicle|hair matrix tumour|hair matrix neoplasm|hair follicle neoplasm (disease)|hair follicle neoplasm UMLS:C0859920|DOID:5375|NCIT:C7367 owl:Class MONDO:0002718 biolink:NamedThing central nervous system teratoma A mature or immature teratoma that affects the central nervous system. tmpte7i6ely_mondo_relaxed.owl teratoma of the CNS|CNS teratoma|central nervous system teratoma|teratoma of central nervous system|teratoma of CNS|teratoma of the central nervous system NCIT:C5441|DOID:3640|Orphanet:252018|UMLS:C1332895 owl:Class HP:0000713 biolink:NamedThing Agitation A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. tmpte7i6ely_mondo_relaxed.owl UMLS:C0085631|SNOMEDCT_US:24199005 human_phenotype owl:Class HP:0000711 biolink:NamedThing Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. tmpte7i6ely_mondo_relaxed.owl Restlessness SNOMEDCT_US:162221009|UMLS:C3887611 human_phenotype owl:Class CL:0002169 biolink:NamedThing basal cell of olfactory epithelium An epithelial cell located on the basal lamina of the olfactory epithelium. tmpte7i6ely_mondo_relaxed.owl horizontal basal call FMA:62303 tmeehan 2010-08-26T01:58:54Z CL:1000395 cell owl:Class CL:0002167 biolink:NamedThing olfactory epithelial cell A specialized cell involved in sensory perception of smell. tmpte7i6ely_mondo_relaxed.owl FMA:67870 tmeehan 2010-08-26T01:47:13Z cell owl:Class MONDO:0018623 biolink:NamedThing postpartum psychosis Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly. tmpte7i6ely_mondo_relaxed.owl puerperal psychosis Orphanet:443173|SCTID:18260003|ICD9:648.44|ICD10:F53.1|ICD10:F53 MONDO:0024269 owl:Class MONDO:0044013 biolink:NamedThing puerperal disorder Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. tmpte7i6ely_mondo_relaxed.owl disorder of puerperium|disorders, puerperal|postpartum disorder|puerperal disorder|disorder, puerperal SCTID:362973001|MESH:D011644|UMLS:C0034040 owl:Class NCBITaxon:11020 biolink:NamedThing Barmah Forest virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002583 biolink:NamedThing mucinous ovarian cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. tmpte7i6ely_mondo_relaxed.owl mucinous cystadenoma of the ovary|ovarian mucinous cystadenoma|mucinous cystadenoma of ovary|benign mucinous cystadenoma of the ovary|ovary mucinous cystadenoma|benign mucinous cystadenoma of ovary|benign ovarian mucinous cystadenoma SCTID:119422004|DOID:3267|UMLS:C0346172|NCIT:C4512 owl:Class MONDO:0012821 biolink:NamedThing colorectal cancer, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 10|CRCS5|colorectal cancer, susceptibility to, 5 OMIM:612230 owl:Class MONDO:0033638 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 8 tmpte7i6ely_mondo_relaxed.owl MC4DN8 OMIM:619052 owl:Class UBERON:5101463 biolink:NamedThing manual digit 1 digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5102389 biolink:NamedThing manual digit digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030680 biolink:NamedThing Abnormality of cardiovascular system morphology Any structural anomaly of the heart and great vessels. tmpte7i6ely_mondo_relaxed.owl Cardiovascular malformations UMLS:C4049796 HP:0002564|HP:0001632|HP:0002565 human_phenotype owl:Class MONDO:0012478 biolink:NamedThing orofacial cleft 9 tmpte7i6ely_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 9|orofacial cleft 9|OFC9 OMIM:610361|Orphanet:1991|MESH:C563675|UMLS:C1835894|DOID:0080402 owl:Class MONDO:0018923 biolink:NamedThing 22q11.2 deletion syndrome 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. tmpte7i6ely_mondo_relaxed.owl Sedlackova syndrome|velocardiofacial syndrome|conotruncal anomaly face syndrome|Cayler cardiofacial syndrome|Takao syndrome|microdeletion 22q11.2|DiGeorge syndrome|catch 22|monosomy 22q11|Shprintzen syndrome|DiGeorge sequence|VCFS|22q11DS MedDRA:10066430|Orphanet:567|OMIM:192430|OMIM:188400|GARD:0010299|ICD10:D82.1|MedDRA:10012979 owl:Class UBERON:0004807 biolink:NamedThing respiratory system epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008231 biolink:NamedThing dorsal thoracic segment of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100318 biolink:NamedThing SARS-CoV-2-related disease A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease. tmpte7i6ely_mondo_relaxed.owl COVID-19-related disease http://orcid.org/0000-0001-5208-3432 owl:Class GO:0016127 biolink:NamedThing sterol catabolic process The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpte7i6ely_mondo_relaxed.owl sterol catabolism|sterol breakdown|sterol degradation owl:Class MONDO:0060760 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities|IDDFBA OMIM:618089 owl:Class MONDO:0010073 biolink:NamedThing spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Sedt with mental retardation|spondyloepiphyseal dysplasia tarda with mental retardation|Sedt with intellectual disability|spondyloepiphyseal dysplasia tarda with intellectual disability UMLS:C1849053|OMIM:271620|ICD10:Q77.7|MESH:C564796|Orphanet:163665|SCTID:719202006 owl:Class MONDO:0019667 biolink:NamedThing spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. tmpte7i6ely_mondo_relaxed.owl ICD9:756.9|OMIM:313400|SCTID:51952004|OMIM:184100|Orphanet:93284|OMIM:271600|ICD10:Q77.7|DOID:0080362 owl:Class UBERON:0011368 biolink:NamedThing brachiocephalic muscle tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:29185 biolink:NamedThing Rotaliida tmpte7i6ely_mondo_relaxed.owl Rotaliina GC_ID:1 ncbi_taxonomy owl:Class CHEBI:27573 biolink:NamedThing silicon atom tmpte7i6ely_mondo_relaxed.owl Silicon|silicium|silicon|14Si|silicio|Si|Silizium owl:Class CHEBI:137980 biolink:NamedThing metalloid atom An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included. tmpte7i6ely_mondo_relaxed.owl metalloid|metalloids owl:Class UBERON:0000355 biolink:NamedThing pharyngeal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019536 biolink:NamedThing typical hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. tmpte7i6ely_mondo_relaxed.owl Sxt-HUS|Shiga-like toxin-associated HUS|typical HUS|D+HUS|D-plus hemolytic uremic syndrome (D+HUS)|hemolytic-uremic syndrome with diarrhea UMLS:CN206363|Orphanet:90038|OMIM:235400|GARD:0006241|ICD10:D59.3 https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus owl:Class GO:0046136 biolink:NamedThing positive regulation of vitamin metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl up regulation of vitamin metabolic process|activation of vitamin metabolic process|upregulation of vitamin metabolic process|stimulation of vitamin metabolic process|up-regulation of vitamin metabolic process|positive regulation of vitamin metabolism owl:Class HGNC:17966 biolink:NamedThing CEP83 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005502 biolink:NamedThing dengue disease Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). tmpte7i6ely_mondo_relaxed.owl Thai hemorrhagic fever|hemorrhagic dengue|Dengue virus caused disease or disorder|Dengue virus infectious disease|Dengue virus disease or disorder|Philippine hemorrhagic fever|classical dengue|break bone fever|classic dengue|breakbone fever|Dengue virus infection|DF|Dengue|Singapore hemorrhagic fever|Dengue fever UMLS:C0376300|ICD9:061|UMLS:C0011311|ICD10:A97.2|OMIM:614371|EFO:0005547|MESH:D003715|ICD10:A97.1|SCTID:38362002|DOID:12205|MedDRA:10012310|NCIT:C34528|GARD:0006254|ICD10:A90|ICD10:A97.0|Orphanet:99828|ICD10:A97.9 owl:Class MONDO:0010651 biolink:NamedThing Menkes disease Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. tmpte7i6ely_mondo_relaxed.owl Menkes syndrome|copper transport disease|MNK|Menkes kinky hair syndrome|steely hair syndrome|Trichopoliodystrophy|kinky hair disease|Mk|MD|kinky hair syndrome|Menkes kinky-hair syndrome|steely hair disease|Menkes disease|Menkea syndrome|X-linked copper deficiency ICD10:E83.0|MESH:D007706|UMLS:C0022716|MedDRA:10027294|Orphanet:565|DOID:1838|OMIM:309400|GARD:0001521|NCIT:C75486|SCTID:59178007|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/1521/menkes-disease owl:Class MONDO:0003955 biolink:NamedThing juvenile breast papillomatosis A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. tmpte7i6ely_mondo_relaxed.owl juvenile papillomatosis of breast|Swiss cheese disease|breast juvenile papillomatosis|juvenile breast papillomatosis|juvenile papillomatosis of the breast DOID:6641|SCTID:708518001|UMLS:C1334303|NCIT:C9503 owl:Class MONDO:0002742 biolink:NamedThing cervical mucinous adenocarcinoma A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. tmpte7i6ely_mondo_relaxed.owl uterine cervix mucinous adenocarcinoma|cervical mucinous adenocarcinoma NCIT:C36095|DOID:3701|UMLS:C1332919 owl:Class UBERON:0002417 biolink:NamedThing abdominal segment of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013203 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 3 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene. tmpte7i6ely_mondo_relaxed.owl Fcd2 locus|corneal dystrophy, Fuchs endothelial, type 3|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 3|FECD3|Fuchs' endothelial dystrophy caused by mutation in TCF4|TCF4 Fuchs' endothelial dystrophy Orphanet:98974|UMLS:C2750451|OMIM:613267 owl:Class GO:0019203 biolink:NamedThing carbohydrate phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016791 biolink:NamedThing phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpte7i6ely_mondo_relaxed.owl phosphatase|PNPPase activity|4-nitrophenylphosphatase activity|ecto-p-nitrophenyl phosphatase activity|phosphoric monoester hydrolase activity|NPPase activity|K-pNPPase activity|para-nitrophenyl phosphatase activity|nitrophenyl phosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|p-nitrophenylphosphate phosphohydrolase activity|p-nitrophenylphosphatase activity owl:Class MONDO:0001177 biolink:NamedThing anorectal stricture tmpte7i6ely_mondo_relaxed.owl stenosis of rectum and anus ICD9:569.2|DOID:11014|SCTID:197216007|ICD10:K62.4 owl:Class MONDO:0018311 biolink:NamedThing acromelanosis Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life. tmpte7i6ely_mondo_relaxed.owl progressive acromelanosis SCTID:239089006|GARD:0004500|Orphanet:39|ICD10:L81.4|ICD9:709.09 https://rarediseases.info.nih.gov/diseases/4500/acromelanosis owl:Class MONDO:0019371 biolink:NamedThing narcolepsy without cataplexy Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior. tmpte7i6ely_mondo_relaxed.owl EFO:0005855|UMLS:C1456240|Orphanet:83465|ICD9:347.00|ICD10:G47.4|ICD10:G47.419|SCTID:91521000119104|UMLS:CN206062 owl:Class NCBITaxon:6258 biolink:NamedThing Baylisascaris tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6250 biolink:NamedThing Ascarididae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024549 biolink:NamedThing microphthalmia with coloboma 1 tmpte7i6ely_mondo_relaxed.owl microphthalmia, colobomatous, isolated 1|microphthalmia, isolated, with coloboma 1|MCOPCB1 Orphanet:98938|OMIM:300345 owl:Class GO:0033006 biolink:NamedThing regulation of mast cell activation involved in immune response Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response. tmpte7i6ely_mondo_relaxed.owl regulation of mast cell activation during immune response owl:Class GO:0002699 biolink:NamedThing positive regulation of immune effector process Any process that activates or increases the frequency, rate, or extent of an immune effector process. tmpte7i6ely_mondo_relaxed.owl activation of immune effector process|up-regulation of immune effector process|stimulation of immune effector process|up regulation of immune effector process|upregulation of immune effector process owl:Class MONDO:0020320 biolink:NamedThing acute myeloblastic leukemia with maturation An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl M2 acute myeloblastic leukemia with maturation|acute myelogenous leukemia with maturation|M2 acute granulocytic leukemia|AM|acute M2 myeloid leukemia|acute myeloblastic leukemia type 2|M2 acute myeloid leukemia|LAM M2|acute myelocytic leukemia with maturation|AML M2|M2 acute myelogenous leukemia|acute myeloid leukemia with maturation|acute myeloblastic leukemia M2|M2 acute myelogenous leukemia with maturation|FAB M2|M2 acute myeloblastic leukemia|M2 acute myelocytic leukemia with maturation|acute myeloid leukemia (AML-M2)|AML with maturation|M2 acute myeloid leukemia with maturation ONCOTREE:AM|ICD10:C92.0|EFO:0003028|ICDO:9874/3|NCIT:C3250|GARD:0000527|Orphanet:98834 https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation owl:Class MONDO:0100306 biolink:NamedThing disorder of defective peroxisome oxidative status Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation. tmpte7i6ely_mondo_relaxed.owl disorder of defective peroxisome oxidative status http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100257 biolink:NamedThing peroxisomal single enzyme/protein defect Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein. tmpte7i6ely_mondo_relaxed.owl peroxisomal single enzyme/protein defect http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019882 biolink:NamedThing distal trisomy 8q Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). tmpte7i6ely_mondo_relaxed.owl trisomy 8qter|distal trisomy type 8q|telomeric duplication 8q|distal duplication 8q SCTID:763277009|ICD10:Q92.3|Orphanet:96100 owl:Class MONDO:0040872 biolink:NamedThing non-psychogenic polydipsia A form of primary polydipsia not caused by underlying psychiatric symptoms. tmpte7i6ely_mondo_relaxed.owl idiopathic polydipsia owl:Class MONDO:0040870 biolink:NamedThing primary polydipsia A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016782 biolink:NamedThing paternal 14q32.2 hypomethylation syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN202038|Orphanet:254531 owl:Class MONDO:0014541 biolink:NamedThing motor developmental delay due to 14q32.2 paternally expressed gene defect A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy chromosome 14 syndrome|mUPD14 syndrome|uniparental disomy, maternal, chromosome 14|TEMPLE syndrome NCIT:C120409|OMIM:616222|Orphanet:254516|UMLS:C4015558|DOID:0111713 owl:Class MONDO:0019808 biolink:NamedThing aortic valve atresia A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. tmpte7i6ely_mondo_relaxed.owl aortic valve atresia|congenital aortic valve atresia|congenital atresia of aortic valve|aortic valve atresia (disease) aortic valve atresia (disease) Orphanet:95448|NCIT:C98818|ICD10:Q23.0|HP:0010883|MedDRA:10066801|SCTID:51442005 owl:Class UBERON:0006723 biolink:NamedThing cochlear modiolus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050962 biolink:NamedThing detection of light stimulus involved in sensory perception The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. tmpte7i6ely_mondo_relaxed.owl sensory perception, sensory transduction of light stimulus|sensory transduction of light stimulus during sensory perception|sensory transduction of light stimulus|sensory detection of light stimulus during sensory perception|sensory perception, sensory detection of light stimulus|sensory detection of light stimulus owl:Class GO:0009583 biolink:NamedThing detection of light stimulus The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl perception of light|detection of light owl:Class MONDO:0002089 biolink:NamedThing retinal vascular occlusion An occlusion of the retinal vasculature. tmpte7i6ely_mondo_relaxed.owl retinal vascular occlusion, unspecified|retinal vascular occlusion ICD10:H34.9|ICD9:362.30|NCIT:C34980|DOID:1729|UMLS:C0035326|SCTID:73757007|ICD9:362.3|ICD10:H34 owl:Class MONDO:0020672 biolink:NamedThing vascular occlusion disorder A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot. tmpte7i6ely_mondo_relaxed.owl vascular occlusion owl:Class MONDO:0017819 biolink:NamedThing atypical dentin dysplasia due to SMOC2 deficiency tmpte7i6ely_mondo_relaxed.owl dentin dysplasia type 1 with microdontia and shape anomalies ICD10:K00.5|UMLS:CN203789|Orphanet:314721|OMIM:125400 owl:Class MONDO:0030116 biolink:NamedThing silver-russell syndrome 2 tmpte7i6ely_mondo_relaxed.owl silver-russell syndrome 2|SRS2|Uniparental Disomy, Maternal, Chromosome 7|SILVER-RUSSELL SYNDROME 2 OMIM:618905 owl:Class GO:0005381 biolink:NamedThing iron ion transmembrane transporter activity Enables the transfer of iron (Fe) ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl iron transporter activity|transmembrane iron permease activity|iron cation channel activity|iron channel activity|zinc, iron permease activity|transmembrane iron ion permease activity|multicopper ferroxidase iron transport mediator activity owl:Class GO:0046915 biolink:NamedThing transition metal ion transmembrane transporter activity Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014668 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene. tmpte7i6ely_mondo_relaxed.owl COA6 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4|CEMCOX4|fatal infantile encephalocardiomyopathy caused by mutation in COA6 UMLS:C4225304|OMIM:616501|DOID:0080360|Orphanet:1561 owl:Class MONDO:0006836 biolink:NamedThing Listeria meningitis Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) tmpte7i6ely_mondo_relaxed.owl Listeria meningoencephalitis|Meningoencephalitides, Listeria|Listeria Meningitides|Meningitides, Listeria|Cerebritides, Listeria|Listeria meningitis|meningitis, Listeria monocytogenes|Listeria monocytogenes infectious meningitis|meningoencephalitis, Listeria|cerebritis, Listeria|Listeria Cerebritides|Listeria cerebritis|Listeria Meningoencephalitides|Listeria monocytogenes caused infectious meningitis|Listeria monocytogenes meningitis|Meningitides, Listeria monocytogenes|Listeria monocytogenes Meningitides MESH:D008584|DOID:11572|EFO:1001021|UMLS:C0025293|ICD9:320.7|SCTID:31568009 owl:Class MONDO:0017277 biolink:NamedThing partial deletion of chromosome 12 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 12|partial monosomy of chromosome 12 Orphanet:282124|ICD10:Q93.5 owl:Class UBERON:0001532 biolink:NamedThing internal carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014388 biolink:NamedThing kidney collecting duct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016780 biolink:NamedThing paternal 14q32.2 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl paternal monosomy 14q32.2|paternal del(14)(q32.2) Orphanet:254525|ICD10:Q93.5|UMLS:CN202036 owl:Class MONDO:0017401 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, left dominant form tmpte7i6ely_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form OMIM:610193|Orphanet:293888|ICD10:I42.8|UMLS:CN203145|OMIM:107970 owl:Class MONDO:0017248 biolink:NamedThing congenital pulmonary airway malformation type 0 tmpte7i6ely_mondo_relaxed.owl congenital cystic adenomatoid malformation of the lung type 0|CPAM type 0|congenital cystic adenomatous malformation of the lung type 0 ICD10:Q33.0|Orphanet:280827 owl:Class MONDO:0016580 biolink:NamedThing congenital pulmonary airway malformation An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size. tmpte7i6ely_mondo_relaxed.owl congenital cystic adenomatoid malformation of lung|CCAM|CPAM|congenital cystic adenomatous malformation of the lung|congenital cystic disease of the lung|congenital cystic adenomatoid malformation of the lung|cystic adenomatoid malformation of lung|congenital cystic adenomatoid malformation MESH:D015615|SCTID:111318005|ICD10:Q33.0|GARD:0006232|Orphanet:2444|NCIT:C98892 owl:Class CL:1000682 biolink:NamedThing kidney medulla interstitial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001092 cell owl:Class CL:1000500 biolink:NamedThing kidney interstitial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001013 cell owl:Class MONDO:0032912 biolink:NamedThing Coffin-Siris syndrome 11 tmpte7i6ely_mondo_relaxed.owl CSS11|COFFIN-SIRIS SYNDROME 11 OMIM:618779 owl:Class MONDO:0015452 biolink:NamedThing Coffin-Siris syndrome Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. tmpte7i6ely_mondo_relaxed.owl fifth digit syndrome|Coffin-Siris syndrome|intellectual disability with absent fifth fingernail and terminal phalanx|dwarfism-onychodysplasia|short stature-onychodysplasia.|CSS NCIT:C35321|ICD9:759.89|OMIM:614609|Orphanet:1465|DOID:1925|GARD:0006124|OMIM:614608|MESH:C536436|OMIM:135900|OMIM:616938|OMIMPS:135900|OMIM:615866|UMLS:C0265338|SCTID:10007009|ICD10:Q87.1|OMIM:614607 owl:Class MONDO:0009809 biolink:NamedThing multicentric osteolysis, nodulosis, and arthropathy A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. tmpte7i6ely_mondo_relaxed.owl Al-Aqeel Sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|NAO syndrome|Torg-Winchester syndrome, formerly|multicentric osteolysis, nodulosis, and arthropathy|Torg syndrome|mona|Torg-Winchester syndrome|osteolysis, hereditary multicentric NCIT:C123437|OMIM:259600 owl:Class MONDO:0016806 biolink:NamedThing maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. tmpte7i6ely_mondo_relaxed.owl Orphanet:254851|ICD10:G24.8|SCTID:717054001|UMLS:C4274074 owl:Class MONDO:0005536 biolink:NamedThing pancolitis Ulcerative colitis that involves the entire colon. tmpte7i6ely_mondo_relaxed.owl universal colitis|pan-ulcerative colitis EFO:0005626 owl:Class MONDO:0005101 biolink:NamedThing ulcerative colitis An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. tmpte7i6ely_mondo_relaxed.owl ulcerative colitis (disease)|left-sided ulcerative colitis|colitis ulcerative|ulcerative colitis|ulcerative proctosigmoiditis ulcerative colitis (disease) HP:0100279|ICD10:K51|ICD10:K51.9|OMIM:266600|EFO:0000729|DOID:8577|Orphanet:771|ICD9:556.5|NCIT:C2952|SCTID:64766004|MESH:D003093|ICD9:556.8|ICD9:556.9|UMLS:C0009324|ICD9:556 owl:Class MONDO:0008769 biolink:NamedThing neuronal ceroid lipofuscinosis 2 A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpte7i6ely_mondo_relaxed.owl late infantile neuronal ceroid lipofuscinosis|CLN2 disease|TPP1 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in TPP1|CLN2 disease, late infantile (subtype)|ceroid lipofuscinosis, neuronal, 2|CLN2 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis type 2|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|neuronal ceroid lipofuscinosis, late infantile|Jansky-Bielschowsky disease|ceroid lipofuscinosis, neuronal, type 2|neuronal ceroid lipofuscinosis 2 variable age at onset|CLN2 DOID:0110726|Orphanet:79264|GARD:0003045|ICD10:E75.4|OMIM:204500|Orphanet:228349|Orphanet:168491|NCIT:C85864 owl:Class UBERON:0001497 biolink:NamedThing muscle of pelvic girdle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010890 biolink:NamedThing pelvic complex muscle tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000495 biolink:NamedThing small intestine goblet cell A goblet cell that is part of the small intestine. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of small intestine|goblet cell of small intestine|small intestinal goblet cell FMA:86929 cell owl:Class GO:0061037 biolink:NamedThing negative regulation of cartilage development Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903315 biolink:NamedThing negative regulation of nitrogen cycle metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of nitrogen cycle metabolic process. tmpte7i6ely_mondo_relaxed.owl downregulation of nitrogen cycle metabolic process|down-regulation of nitrogen cycle metabolic process|down regulation of nitrogen cycle metabolic process|inhibition of nitrogen cycle metabolic process owl:Class GO:0051172 biolink:NamedThing negative regulation of nitrogen compound metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpte7i6ely_mondo_relaxed.owl inhibition of nitrogen metabolic process|negative regulation of nitrogen metabolism|negative regulation of nitrogen metabolic process|downregulation of nitrogen metabolic process|down regulation of nitrogen metabolic process|down-regulation of nitrogen metabolic process owl:Class MONDO:0008758 biolink:NamedThing mitochondrial DNA depletion syndrome 4a Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. tmpte7i6ely_mondo_relaxed.owl progressive neuronal degeneration of childhood with liver disease|progressive sclerosing poliodystrophy|Alper syndrome|MTDPS4A|Alpers Huttenlocher syndrome|Alper's syndrome|infantile poliodystrophy|mitochondrial DNA depletion syndrome type 4a|Alpers progressive infantile poliodystrophy|Alpers' disease or gray-matter degeneration|Alpers Huttenlocher disease|AHS|progressive cerebral poliodystrophy|Alpers-Huttenlocher syndrome|Alpers syndrome|Alpers disease|neuronal Degeneration of childhood with liver disease, progressive|mitochondrial DNA depletion syndrome 4A|Alpers progressive sclerosing poliodystrophy|diffuse cerebral degeneration in infancy|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|AHD|mitochondrial DNA depletion syndrome 4A (Alpers type)|Poliodystrophia cerebri progressiva|PNDC ICD9:330.8|MedDRA:10062943|UMLS:C0205710|GARD:0005783|Orphanet:726|ICD10:G31.81|DOID:1442|DOID:0080122|ICD10:G31.8|OMIM:203700|NCIT:C35257|SCTID:20415001 owl:Class MONDO:0012839 biolink:NamedThing pyogenic bacterial infections due to MyD88 deficiency Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. tmpte7i6ely_mondo_relaxed.owl MYD88D|pyogenic bacterial infections, recurrent, due to MyD88 deficiency|recurrent pyogenic bacterial infections due to MyD88 deficiency|MyD88 deficiency MESH:C567379|OMIM:612260|ICD10:D84.8|UMLS:C2677092|GARD:0012638|Orphanet:183713 owl:Class OBO:CHR_9606-chr11p15 biolink:NamedThing 11p15 (Human) tmpte7i6ely_mondo_relaxed.owl 22000000 0 hg38 owl:Class MONDO:0008437 biolink:NamedThing hereditary spastic paraplegia 3A Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant familial spastic paraplegia 1|SPG3A|ATL1 hereditary spastic paraplegia|Strumpell disease|spastic paraplegia 3|spastic Paraplegia 3A|strumpell disease|familial spastic paraplegia, autosomal dominant, 1|hereditary spastic paraplegia type 3A|hereditary spastic paraplegia caused by mutation in ATL1|FSP1|Spg3|Strümpell disease|spastic paraplegia 3, autosomal dominant|autosomal dominant spastic paraplegia 3|autosomal dominant spastic paraplegia type 3 OMIM:182600|ICD10:G11.4|UMLS:C2931355|MESH:C536864|DOID:0110791|Orphanet:100984|NCIT:C142893|GARD:0005041 owl:Class MONDO:0013998 biolink:NamedThing MEGF8-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. tmpte7i6ely_mondo_relaxed.owl MEGF8 Carpenter syndrome|Carpenter syndrome 2|Carpenter syndrome caused by mutation in MEGF8|CRPT2|CARPENTER syndrome 2|Carpenter syndrome type 2 UMLS:C3554247|Orphanet:65759|OMIM:614976 owl:Class MONDO:0009292 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. tmpte7i6ely_mondo_relaxed.owl Andersen disease|cirrhosis, familial, with deposition of abnormal glycogen|GSD type 4|glycogen storage disease due to glycogen branching enzyme deficiency|Andersen's disease|glycogen storage disease, type IV|glycogen storage disease caused by mutation in GBE1|GSD IV, neuromuscular form, fatal perinatal|brancher deficiency|GSD IV, neuromuscular form, congenital|glycogen storage disease type IV|glycogen storage disease type 4|glycogenosis type 4|GSD 4|brancher deficiency glycogenosis|glycogen storage disease IV|amylopectinosis|glycogenosis 4|GSD IV, neuromuscular form, adult, with isolated myopathy|GSD type IV|glycogen storage disease 4|GSD IV|GSD due to glycogen branching enzyme deficiency|GSD IV, nonprogressive hepatic|GSD4|GBE1 glycogen storage disease|Gbe1 deficiency|glycogenosis due to glycogen branching enzyme deficiency|branching-transferase deficiency glycogenosis|deficiency of 1,4-alpha-glucan branching enzyme|glycogenosis type IV|GSD IV, neuromuscular form, childhood|glycogen branching enzyme deficiency|GSD IV, classic hepatic UMLS:C1856305|DOID:2750|UMLS:CN204783|OMIM:232500|ICD10:E74.0|OMIM:263570|UMLS:C1856303|MedDRA:10053249|SCTID:124267007|Orphanet:367|NCIT:C84737|UMLS:C1856304|UMLS:C0017923|GARD:0002520|ICD10:E74.09|ICD9:277.6 owl:Class MONDO:0007618 biolink:NamedThing Eng-Strom syndrome Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl short stature-locking fingers syndrome|finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950|ICD10:Q87.1|Orphanet:1937|UMLS:C2931545 owl:Class MONDO:0004926 biolink:NamedThing dacryocystitis Inflammation of the lacrimal sac. tmpte7i6ely_mondo_relaxed.owl Dacryocystitides|Dacryoadenitides|lacrimal sac inflammation|inflammation of lacrimal sac|dacryoadenitis ICD9:375.30|SCTID:85777005|MESH:D003607|DOID:9938|ICD10:H04.30|UMLS:C0010930|NCIT:C34521 owl:Class MONDO:0001426 biolink:NamedThing mediastinum neurofibroma A neurofibroma that arises from the posterior mediastinum. Excision is usually curative. tmpte7i6ely_mondo_relaxed.owl neurofibroma of the mediastinum|mediastinal neurofibroma|mediastinum neurofibroma|neurofibroma of mediastinum NCIT:C6631|DOID:12064|UMLS:C1334674 owl:Class MONDO:0010006 biolink:NamedThing Sandhoff disease Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. tmpte7i6ely_mondo_relaxed.owl GM2 gangliosidosis, type 2|Beta-hexosaminidase-beta-subunit deficiency|hexosaminidase A and B deficiency disease|total hexosaminidase deficiency|Sandhoff disease, infantile type|Hexosaminidases a and B deficiency|Sandhoff disease|Hexosaminidases A and B deficiency|Sandhoff Jatzkewitz disease|Sandhoff disease, adult type|GM2 gangliosidosis, 0 variant|Sandhoff disease, juvenile type|Sandhoff-Jatzkewitz-Pilz disease|GM2-gangliosidosis, type 2|GM2 gangliosidosis 0 variant Orphanet:309169|Orphanet:309155|GARD:0002521|ICD10:E75.0|NCIT:C85052|MESH:D012497|GARD:0007604|Orphanet:309162|DOID:3323|ICD10:E75.01|SCTID:23849003|OMIM:268800|UMLS:C0036161|Orphanet:796 owl:Class HGNC:23216 biolink:NamedThing ZNF469 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011642 biolink:NamedThing oral epithelium from ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045272 biolink:NamedThing plasma membrane respiratory chain complex I A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species. tmpte7i6ely_mondo_relaxed.owl NADH dehydrogenase (ubiquinone) complex|respiratory chain complex I owl:Class GO:0045271 biolink:NamedThing respiratory chain complex I Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex. tmpte7i6ely_mondo_relaxed.owl NADH-Q oxidoreductase complex|NADH dehydrogenase complex (ubiquinone)|electron transport complex I|NADH dehydrogenase (ubiquinone) complex owl:Class MONDO:0018487 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CXCR2 deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:D70|Orphanet:420699 owl:Class MONDO:0018542 biolink:NamedThing severe congenital neutropenia tmpte7i6ely_mondo_relaxed.owl neutropenia, severe congenital|SCN ICD10:D70|Orphanet:42738|OMIM:616022|Orphanet:486|OMIM:610738|Orphanet:86788|OMIMPS:202700|DOID:0050590|OMIM:202700|OMIM:615285|OMIM:613107|ICD9:288.01|SCTID:89655007|OMIM:612541|OMIM:300299|MedDRA:10052210 owl:Class GO:1900115 biolink:NamedThing extracellular regulation of signal transduction Any regulation of signal transduction that takes place in the extracellular region. tmpte7i6ely_mondo_relaxed.owl regulation of signalling pathway in extracellular region|regulation of signaling pathway in extracellular region owl:Class MONDO:0012832 biolink:NamedThing inflammatory bowel disease 14 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease caused by mutation in IRF5|inflammatory bowel disease 14|IBD14|IRF5 inflammatory bowel disease|inflammatory bowel disease type 14 DOID:0110895|OMIM:612245|UMLS:C2677100|MESH:C567383 owl:Class MONDO:0015380 biolink:NamedThing facial dermoid cyst Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. tmpte7i6ely_mondo_relaxed.owl dermoid cyst of the face ICD10:Q18.8|Orphanet:141051|SCTID:763220008 owl:Class UBERON:0010186 biolink:NamedThing male urethral gland tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9000026 biolink:NamedThing exposure to alcohol An exposure to alcohol. tmpte7i6ely_mondo_relaxed.owl exposure to alcohol owl:Class MONDO:0004162 biolink:NamedThing uterine corpus cellular leiomyoma A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. tmpte7i6ely_mondo_relaxed.owl body of uterus cellular leiomyoma|uterine corpus cellular leiomyoma|cellular leiomyoma of body of uterus UMLS:C1519845|DOID:7242|NCIT:C40163 owl:Class MONDO:0003296 biolink:NamedThing cellular leiomyoma A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. tmpte7i6ely_mondo_relaxed.owl cellular leiomyoma|cellular leiomyoma (morphologic abnormality) DOID:5139|NCIT:C4256|ICDO:8892/0|UMLS:C0334477 owl:Class MONDO:0030898 biolink:NamedThing immunodeficiency 76 tmpte7i6ely_mondo_relaxed.owl IMD76|immunodeficiency 76 OMIM:619164 owl:Class GO:1903788 biolink:NamedThing positive regulation of glutathione biosynthetic process Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process. tmpte7i6ely_mondo_relaxed.owl upregulation of glutathione biosynthesis|positive regulation of glutathione formation|positive regulation of glutathione anabolism|up-regulation of glutathione biosynthetic process|activation of glutathione biosynthesis|up-regulation of glutathione formation|positive regulation of glutathione biosynthesis|up regulation of glutathione biosynthesis|up-regulation of glutathione anabolism|upregulation of glutathione biosynthetic process|activation of glutathione biosynthetic process|upregulation of glutathione anabolism|positive regulation of glutathione synthesis|upregulation of glutathione synthesis|up-regulation of glutathione synthesis|upregulation of glutathione formation|up regulation of glutathione synthesis|activation of glutathione formation|up-regulation of glutathione biosynthesis|up regulation of glutathione formation|activation of glutathione anabolism|activation of glutathione synthesis|up regulation of glutathione biosynthetic process|up regulation of glutathione anabolism owl:Class MONDO:0008582 biolink:NamedThing tooth and nail syndrome Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. tmpte7i6ely_mondo_relaxed.owl HND|tooth and nail syndrome|TNS|dysplasia of nails with hypodontia|Witkop's syndrome|Witkop syndrome|hypoplastic enamel-onycholysis-hypohidrosis syndrome|WITKOP syndrome|ectodermal dysplasia 3, Tooth/nail type|hypodontia-nail dysgenesis syndrome|hypodontia - dysplasia of nails|tooth-and-nail syndrome|hypodontia with nail dysplasia|hypodontia and nail dysplasia|ectodermal dysplasia 3, Witkop type|hypodontia-nail dysplasia|hypodontia-dysplasia of nails syndrome|nail dysplasia with hypodontia NCIT:C40553|ICD10:Q82.4|UMLS:C0406735|GARD:0005587|SCTID:400036004|MESH:C536736|DOID:6678|Orphanet:2228|OMIM:189500 owl:Class UBERON:0001215 biolink:NamedThing inferior mesenteric vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005617 biolink:NamedThing mesenteric vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017695 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form tmpte7i6ely_mondo_relaxed.owl glycogen storage disease type IV, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|GSD type 4, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|glycogenosis type IV, progressive hepatic form|GSDIV, progressive hepatic form|glycogenosis type 4, progressive hepatic form|GBE deficiency, progressive hepatic form Orphanet:308621|OMIM:232500|ICD10:E74.0|UMLS:CN203594 owl:Class UBERON:0002443 biolink:NamedThing choroidal blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003442 biolink:NamedThing bladder papillary urothelial neoplasm A papillary epithelial neoplasm that involves the urinary bladder urothelium. tmpte7i6ely_mondo_relaxed.owl urinary bladder papillary transitional cell neoplasm|bladder papillary transitional cell neoplasm|bladder papillary urothelial neoplasm|urinary bladder urothelium papillary epithelial neoplasm|urinary bladder papillary urothelial neoplasm DOID:5432|NCIT:C39857|UMLS:C1511197 owl:Class MONDO:0004252 biolink:NamedThing small intestinal L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpte7i6ely_mondo_relaxed.owl small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine|small intestinal L-cell glucagon-like peptide-producing NET|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor|small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor DOID:7506|NCIT:C27452|UMLS:C3274143 owl:Class MONDO:0006713 biolink:NamedThing corneal neovascularization New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. tmpte7i6ely_mondo_relaxed.owl EFO:1000880|UMLS:C0085109|ICD10:H16.4|DOID:11382|ICD9:370.60|ICD9:370.6|MESH:D016510|SCTID:19161004|ICD10:H16.40|MedDRA:10011031 owl:Class MONDO:0003085 biolink:NamedThing keratitis A corneal disease that is characterized by inflammation of the cornea. tmpte7i6ely_mondo_relaxed.owl cornea inflammation|inflammation of cornea NCIT:C26805|ICD9:370|MESH:D007634|SCTID:5888003|UMLS:C0022568|DOID:4677|ICD10:H16.9|ICD10:H16|ICD9:370.8|ICD9:370.9 owl:Class MONDO:0017691 biolink:NamedThing erythrocyte galactose epimerase deficiency tmpte7i6ely_mondo_relaxed.owl erythrocyte uridine diphosphate galactose-4-epimerase deficiency|erythrocyte UDP-galactose-4-epimerase deficiency|erythrocyte GALE-D|erythrocyte GALE deficiency|erythrocyte epimerase deficiency galactosemia SCTID:297238008|UMLS:C0574090|ICD10:E74.2|Orphanet:308473 owl:Class MONDO:0009257 biolink:NamedThing galactose epimerase deficiency Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. tmpte7i6ely_mondo_relaxed.owl galactosemia 3|UDP-galactose-4-epimerase deficiency|GALE deficiency|galactosemia type 3|epimerase deficiency galactosemia|uridine diphosphate galactose-4-epimerase deficiency|galactose epimerase deficiency|GALE-D|Gale deficiency OMIM:230350|GARD:0005392|Orphanet:79238|Orphanet:352|DOID:0111458|ICD10:E74.2|SCTID:8849004 https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency owl:Class MONDO:0018835 biolink:NamedThing nodular regenerative hyperplasia of the liver Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins. tmpte7i6ely_mondo_relaxed.owl nodular regenerative hyperplasia|non-cirrhotic nodulation|miliary hepatocellular adenomatosis|non-cirrhotic nodular transformation|non-cirrhotic portal hypertension GARD:0010929|UMLS:CN205145|Orphanet:48372|SCTID:715140008|ICD9:573.8|ICD10:K76.8 owl:Class UBERON:0006273 biolink:NamedThing otic pit tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016566 biolink:NamedThing pit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018975 biolink:NamedThing neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. tmpte7i6ely_mondo_relaxed.owl type 1 neurofibromatosis|neurofibromatosis|neurofibromatosis type 1|neurofibromatosis 1|neurofibromatosis, peripheral type|peripheral neurofibromatosis|Recklinghausen's disease|neurofibromatosis, type 1|NF1|Von Recklinghausen disease|neurofibromatosis, type I|neurofibromatosis type 1 microdeletion syndrome|von Reklinghausen disease DOID:0111253|MESH:C538607|OMIM:162210|SCTID:92824003|NCIT:C3273|ICD10:Q85.0|OMIM:162200|Orphanet:636|UMLS:C0027831|MESH:D009456|ICD9:237.71|OMIM:613675|Orphanet:363700|GARD:0007866|MedDRA:10047712 owl:Class MONDO:0010672 biolink:NamedThing linear skin defects with multiple congenital anomalies A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. tmpte7i6ely_mondo_relaxed.owl syndromic microphthalmia type 7|MLS syndrome|microphthalmia with linear skin defects syndrome|Micropthalmia syndromic 7|linear skin defects with multiple congenital anomalies type 1|MIDAS syndrome|linear skin defects with multiple congenital anomalies|MCOPS7|LSDMCA1|microphthalmia-dermal aplasia-sclerocornea syndrome|microphthalmia dermal aplasia and sclerocornea syndrome|linear skin defects with multiple congenital anomalies 1 OMIM:300887|OMIMPS:309801|MESH:C537466|GARD:0003659|Orphanet:2556|OMIM:309801|OMIM:300952|SCTID:721879006|ICD10:Q11.2 Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome owl:Class HP:0000989 biolink:NamedThing Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. tmpte7i6ely_mondo_relaxed.owl Itchy skin|pruritis|Skin itching|Itching SNOMEDCT_US:418290006|UMLS:C0033774|SNOMEDCT_US:279333002|SNOMEDCT_US:418363000|SNOMEDCT_US:424492005|MSH:D011537 human_phenotype owl:Class UBERON:0036301 biolink:NamedThing vasculature of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005903 biolink:NamedThing duct of seminal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003887 biolink:NamedThing ovarian mucinous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian mucinous adenofibroma|ovary mucinous adenofibroma|mucinous adenofibroma of ovary UMLS:C1518723|NCIT:C40040|DOID:6469 owl:Class GO:0070324 biolink:NamedThing thyroid hormone binding Binding to thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland. tmpte7i6ely_mondo_relaxed.owl triiodothyronine binding|thyroxine binding owl:Class GO:0042562 biolink:NamedThing hormone binding Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002694 biolink:NamedThing cavernous sinus thrombosis Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711) tmpte7i6ely_mondo_relaxed.owl thrombosis of cavernous venous sinus UMLS:C0238454|SCTID:89980009|DOID:3575|MESH:D020226 owl:Class UBERON:0004027 biolink:NamedThing chorionic plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012324 biolink:NamedThing Frias syndrome A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. tmpte7i6ely_mondo_relaxed.owl chromosome 14Q22 deletion syndrome|Del(14)(q22q23)|Growth deficiency, Facial anomalies, and brachydactyly|monosomy 14q22q23|14q22q23 microdeletion syndrome|monosomy 14q22-q23|14q22-q23 microdeletion syndrome|Frias syndrome UMLS:C1864825|OMIM:609640|ICD10:Q93.5|GARD:0002384|Orphanet:264200|Orphanet:2055|MESH:C535639 owl:Class MONDO:0009485 biolink:NamedThing oculocerebrofacial syndrome, Kaufman type tmpte7i6ely_mondo_relaxed.owl Kaufman oculocerebrofacial syndrome|blepharophimosis-ptosis-intellectual disability syndrome|oculocerebrofacial syndrome, Kaufman type|BPIDS|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|KOS|kos UMLS:C1855663|Orphanet:2707|OMIM:244450|DOID:0111456|GARD:0003084|SCTID:722056009|ICD10:Q87.0|MESH:C537013 owl:Class HGNC:6139 biolink:NamedThing ITGA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013387 biolink:NamedThing developmental and epileptic encephalopathy, 7 KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 7|epileptic encephalopathy, early infantile, 7|EIEE7|KCNQ2-NEE|KCNQ2-related epileptic encephalopathy|KCNQ2-related disorders|DEE7|KCNQ2-related neonatal epileptic encephalopathy OMIM:613720|GARD:0013060|ICD10:G40.4|UMLS:C3150986|Orphanet:439218|DOID:0080462 owl:Class MONDO:0021351 biolink:NamedThing neoplasm of neck A neoplasm (disease) that involves the neck. tmpte7i6ely_mondo_relaxed.owl neoplasm of neck|neck neoplasm|neoplasm of the neck|neck neoplasms (Including All pharyngeal related neoplasms)|neck neoplasm (disease)|tumor of neck|tumor of the neck|neck tumor SCTID:126635000|UMLS:C0027533|ICD9:239.89|NCIT:C3260 owl:Class HP:0000093 biolink:NamedThing Proteinuria Increased levels of protein in the urine. tmpte7i6ely_mondo_relaxed.owl High urine protein levels|Protein in urine SNOMEDCT_US:29738008|UMLS:C0033687|MSH:D011507 human_phenotype owl:Class HP:0020129 biolink:NamedThing Abnormal urine protein level Any deviation of the concentration of one or more proteins in the urine. tmpte7i6ely_mondo_relaxed.owl robinp 2019-07-05T16:29:22Z human_phenotype owl:Class NCBITaxon:6315 biolink:NamedThing Trichostrongylidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6314 biolink:NamedThing Trichostrongyloidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005953 biolink:NamedThing scirrhous adenocarcinoma An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma with productive fibrosis|FIBROADENOCARCINOMA, malignant|scirrhous adenocarcinoma|scirrhous carcinoma|fibrocarcinoma|scirrhous adenocarcinoma (morphologic abnormality) EFO:0007478|UMLS:C0007135|ICDO:8141/3|NCIT:C2928|MESH:D002293|DOID:4024 owl:Class MONDO:0021581 biolink:NamedThing connective tissue neoplasm Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. tmpte7i6ely_mondo_relaxed.owl connective tissue tumor|tumor of connective tissue|neoplasm of connective tissues|connective tissue neoplasm|connective tissue neoplasm (disease)|neoplasm of connective tissue|connective tissue neoplasms|tumour of connective tissue|neoplasm, connective tissue ICD9:239.2|SCTID:126598008|UMLS:C0027656|MESH:D009372 owl:Class MONDO:0008464 biolink:NamedThing split hand-foot malformation 1 Split-hand/foot malformation mapped to chromosome 7q21.3 tmpte7i6ely_mondo_relaxed.owl split-hand/foot malformation 1|split-hand/foot malformation 1 with or without deafness|ectrodactyly|split-hand/foot malformation type 1|split hand-foot malformation type 1|split-hand deformity|SHFD1|SHFM1|split-hand/foot deformity 1 DOID:0090021|ICD10:Q71.6|NCIT:C75045|GARD:0007685|Orphanet:2440|UMLS:C2931019|OMIM:183600 owl:Class GO:0090316 biolink:NamedThing positive regulation of intracellular protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051222 biolink:NamedThing positive regulation of protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl activation of protein transport|up-regulation of protein transport|upregulation of protein transport|stimulation of protein transport|up regulation of protein transport owl:Class UBERON:0002129 biolink:NamedThing cerebellar cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019263 biolink:NamedThing gray matter of hindbrain tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q biolink:NamedThing 2q (Human) tmpte7i6ely_mondo_relaxed.owl 242193529 93900000 hg38 owl:Class UBERON:0001219 biolink:NamedThing ileocolic vein tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045822 biolink:NamedThing negative regulation of heart contraction Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. tmpte7i6ely_mondo_relaxed.owl down regulation of heart contraction|inhibition of heart contraction|negative regulation of cardiac contraction|downregulation of heart contraction|down-regulation of heart contraction owl:Class MONDO:0008943 biolink:NamedThing autosomal recessive spinocerebellar ataxia 2 The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training. tmpte7i6ely_mondo_relaxed.owl cerebellar hypoplasia, nonprogressive Norman type|cerebellar granular cell hypoplasia and intellectual disability, congenital|PMPCA autosomal recessive congenital cerebellar ataxia|CPDIII|CPD 3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA|SCAR2|cerebelloparenchymal disorder 3|spinocerebellar ataxia, autosomal recessive 2|autosomal recessive spinocerebellar ataxia type 2|autosomal recessive cerebelloparenchymal disorder type 3|CPD3 ICD10:G11.0|GARD:0001199|SCTID:715369006|MESH:C565865|DOID:0080061|OMIM:213200|UMLS:C1859298|Orphanet:1170 owl:Class MONDO:0020043 biolink:NamedThing autosomal recessive congenital cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl Orphanet:98095 owl:Class MONDO:0012788 biolink:NamedThing coronary heart disease, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl coronary heart disease, susceptibility to, 9|CHDS9 OMIM:612030 owl:Class MONDO:0013665 biolink:NamedThing epilepsy, juvenile myoclonic, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl EJM9|epilepsy, juvenile myoclonic, susceptibility to, 9 DOID:0111328|OMIM:614280|Orphanet:307 owl:Class MONDO:0023628 biolink:NamedThing levator syndrome Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. tmpte7i6ely_mondo_relaxed.owl levator syndrome|paroxysmal proctalgia|levator ani syndrome|psychogenic anal spasm|proctalgia fugax|painful spasm of anus|levator ani spasm syndrome|anorectal spasm SCTID:62647006|NCIT:C113615|GARD:0006899|MESH:C535890 https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome owl:Class UBERON:0007026 biolink:NamedThing presumptive gut tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004915 biolink:NamedThing sphincter of hepatopancreatic ampulla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006969 biolink:NamedThing sialadenitis Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common. tmpte7i6ely_mondo_relaxed.owl sialoadenitis|sialitis|salivary gland inflammation|adenitis, salivary gland|lymphadenitis (disease) of saliva-secreting gland|saliva-secreting gland lymphadenitis (disease) ICD10:K11.20|MedDRA:10040627|NCIT:C115165|EFO:1001179|ICD10:K11.2|GARD:0007638|SCTID:42982001|DOID:10303|MESH:D012793|ICD9:527.2|UMLS:C0037023 Editor note: TODO check NCIT mapping https://rarediseases.info.nih.gov/diseases/7638/sialadenitis owl:Class GO:0045595 biolink:NamedThing regulation of cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006704 biolink:NamedThing glucocorticoid biosynthetic process The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. tmpte7i6ely_mondo_relaxed.owl glucocorticoid biosynthesis|glucocorticoid synthesis|glucocorticoid anabolism|glucocorticoid formation owl:Class HP:0002103 biolink:NamedThing Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. tmpte7i6ely_mondo_relaxed.owl Abnormality of the pleura UMLS:C4025726 human_phenotype owl:Class MONDO:0001481 biolink:NamedThing femoral vein thrombophlebitis A thrombophlebitis that involves the femoral vein. tmpte7i6ely_mondo_relaxed.owl thrombophlebitis of the femoral vein|femoral vein thrombophlebitis|phlebitis and thrombophlebitis of femoral vein|thrombophlebitis of deep femoral vein|thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial) SCTID:1748006|ICD9:451.11|UMLS:C0265066|ICD10:I80.1|DOID:12282 owl:Class MONDO:0002304 biolink:NamedThing protein S deficiency Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. tmpte7i6ely_mondo_relaxed.owl Protein S deficiency|Protein S deficiency disease NCIT:C99026|HGNC:9456|UMLS:C0242666|SCTID:1563006|ICD10:D68.59|GARD:0004524|MESH:D018455|DOID:2451|ICD9:289.81 Editor note: TODO axiomatize https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency owl:Class MONDO:0003804 biolink:NamedThing blood protein disease tmpte7i6ely_mondo_relaxed.owl Protein disorders, blood|disorders, blood Protein|blood Protein disorder|Protein disorder, blood|disorder, blood Protein|blood protein disorder MESH:D001796|DOID:620|UMLS:C0005830 owl:Class GO:0010923 biolink:NamedThing negative regulation of phosphatase activity Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010921 biolink:NamedThing regulation of phosphatase activity Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002674 biolink:NamedThing negative regulation of acute inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. tmpte7i6ely_mondo_relaxed.owl down-regulation of acute inflammatory response|down regulation of acute inflammatory response|inhibition of acute inflammatory response|downregulation of acute inflammatory response owl:Class MONDO:0014438 biolink:NamedThing Bardet-Biedl syndrome 10 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. tmpte7i6ely_mondo_relaxed.owl BBS10 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS10|Bardet-Biedl syndrome 10|BBS10|Bardet-Biedl syndrome type 10 UMLS:C1859568|OMIM:615987|DOID:0110132|GARD:0010209|ICD10:Q87.89|MESH:C565919|EFO:0009022 owl:Class MONDO:0003540 biolink:NamedThing acute T cell leukemia tmpte7i6ely_mondo_relaxed.owl precursor T lymphoblastic leukemia SCTID:110007008|DOID:5603|NCIT:C3184|UMLS:C0023493|ICD10:C91.50|ICD10:C91.5|CSP:2004-1803|SCTID:277575008|CSP:2004-1600 owl:Class MONDO:0009145 biolink:NamedThing SchC6pf-Schulz-Passarge syndrome A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. tmpte7i6ely_mondo_relaxed.owl SSPS|eccrine tumors-ectodermal dysplasia|SChöPF-Schulz-Passarge syndrome|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SCHOPF-Schulz-Passarge syndrome|eccrine tumors with ectodermal dysplasia|keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis SCTID:700062000|UMLS:C1857069|OMIM:224750|ICD9:758.89|Orphanet:50944|DOID:0111647|ICD10:Q82.8|MESH:C565607 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0018632 biolink:NamedThing 11q22.2q22.3 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl monosomy 11q22.2-q22.3|11q22.2-q22.3 deletion syndrome|Del(11)(q22.2q22.3)|monosomy 11q22.2q22.3 UMLS:CN237678|Orphanet:444002|ICD10:Q93.5 owl:Class MONDO:0010851 biolink:NamedThing Lowry-MacLean syndrome Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. tmpte7i6ely_mondo_relaxed.owl intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry-MacLean syndrome|Lowry MacLean syndrome|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure SCTID:721974000|Orphanet:2409|UMLS:C0796020|ICD10:Q87.8|OMIM:600252|MESH:C537037|GARD:0003300 owl:Class MONDO:0019060 biolink:NamedThing bone neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. tmpte7i6ely_mondo_relaxed.owl bone tissue neoplasm|tumor of bone tissue|primary bone cancer|tumor of bone|tumor of the bone|osseous tumor|neoplasm of bone|bone neoplasm|neoplasm of the bone|rare bone tumor|osseous neoplasm|neoplasm of bone tissue|bone neoplasms|primary malignant neoplasm of bone|bone tumors|bone tissue tumor|bone tumor GARD:0013223|NCIT:C9343|ONCOTREE:BONE|Orphanet:68411 owl:Class MONDO:0012268 biolink:NamedThing AIDS A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. tmpte7i6ely_mondo_relaxed.owl acquired immunodeficiency syndrome, AIDS|acquired immunodeficiency syndrome|AIDS|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency disease|acquired immune deficiency|acquired immune deficiency syndrome ICD10:B20|SCTID:62479008|DOID:635|NCIT:C2851|MESH:D000163|EFO:0000765 owl:Class MONDO:0005109 biolink:NamedThing HIV infectious disease An infection caused by the human immunodeficiency virus. tmpte7i6ely_mondo_relaxed.owl Human immunodeficiency virus disease or disorder|HIV infection|Human immunodeficiency virus caused disease or disorder|human immunodeficiency virus infectious disease|Human immunodeficiency virus infectious disease ICD10:B20.B24|DOID:526|ICD9:042-042.99|ICD10:B20|UMLS:C0019693|MESH:D015658|ICD10:B20-B20|EFO:0000764|ICD9:042|SCTID:86406008|NCIT:C3108 owl:Class HGNC:5973 biolink:NamedThing IL13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008764 biolink:NamedThing Leber congenital amaurosis 1 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene. tmpte7i6ely_mondo_relaxed.owl amaurosis congenita of Leber, type 1|amaurosis congenita of Leber I|Leber congenital amaurosis caused by mutation in GUCY2D|LCA|Leber congenital amaurosis 1|LCA1|Leber congenital amaurosis type 1|amaurosis congenita of Leber 1|retinal blindness, congenital|CRB|GUCY2D Leber congenital amaurosis UMLS:C0339527|ICD10:H35.5|DOID:0110078|GARD:0000635|OMIM:204000 owl:Class MONDO:0021104 biolink:NamedThing alcoholic fatty liver disease Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. tmpte7i6ely_mondo_relaxed.owl alcoholic Steatohepatitis|alcoholic fatty liver MESH:D005235|UMLS:C2718067|ICD9:571.0|SCTID:50325005|UMLS:C0015696 owl:Class MONDO:0004790 biolink:NamedThing fatty liver disease A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. tmpte7i6ely_mondo_relaxed.owl hepatic lipidosis|fatty liver|steatosis of liver|fatty change of liver ICD9:571.0|SCTID:197321007|UMLS:C0015696|OMIM:228100|SCTID:371330000|MESH:D005235|DOID:9452|EFO:0003934|ICD10:K70.0|ICD9:571.8|MESH:D005234 owl:Class MONDO:0015064 biolink:NamedThing jejunal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum. tmpte7i6ely_mondo_relaxed.owl jejunal neuroendocrine neoplasm|jejunal neuroendocrine tumor NCIT:C135090|UMLS:CN197357|Orphanet:100077 Editor note: TODO apply G1/G2 pattern owl:Class UBERON:0004821 biolink:NamedThing pulmonary alveolus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001024 biolink:NamedThing CD34-positive, CD38-negative hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. tmpte7i6ely_mondo_relaxed.owl CD133-positive hematopoietic stem cell CALOHA:TS-0448|FMA:86475 Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). cell owl:Class HP:0000230 biolink:NamedThing Gingivitis Inflammation of the gingiva. tmpte7i6ely_mondo_relaxed.owl Red and swollen gums|Gingival inflammation|Inflamed gums SNOMEDCT_US:66383009|MSH:D005891|UMLS:C0017574 human_phenotype owl:Class HP:0000168 biolink:NamedThing Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). tmpte7i6ely_mondo_relaxed.owl Gingival abnormality|Abnormality of the gums UMLS:C4021816 The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. human_phenotype owl:Class MONDO:0022769 biolink:NamedThing ciliary dyskinesia-bronchiectasis tmpte7i6ely_mondo_relaxed.owl GARD:0001362 https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis owl:Class MONDO:0012656 biolink:NamedThing lethal congenital contracture syndrome 3 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. tmpte7i6ely_mondo_relaxed.owl Israeli Bedouin type B multiple contracture syndrome|lethal congenital contracture syndrome type 3|multiple contracture syndrome, Israeli Bedouin type B|lethal congenital contracture syndrome 3|LCCS3|PIP5K1C lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in PIP5K1C OMIM:614915|SCTID:715420005|GARD:0012644|MESH:C566961|ICD10:Q68.8|Orphanet:137783|OMIM:611369|UMLS:C1969655|UMLS:C4275144|DOID:0060653 https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 owl:Class MONDO:0021107 biolink:NamedThing narcolepsy A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. tmpte7i6ely_mondo_relaxed.owl narcolepsy, without cataplexy|paroxysmal sleep|narcolepsy UMLS:C0027404|SCTID:60380001|MESH:D009290|ICD9:347.00|NCIT:C84489|EFO:0000614|OMIMPS:161400|DOID:8986 owl:Class MONDO:0017983 biolink:NamedThing humero-radio-ulnar synostosis Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. tmpte7i6ely_mondo_relaxed.owl humero-radio-ulnar fusion Orphanet:3266|ICD10:Q74.0 owl:Class MONDO:0006218 biolink:NamedThing gallbladder biliary intraepithelial neoplasia A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity. tmpte7i6ely_mondo_relaxed.owl gallbladder BilIN|gallbladder dysplasia|intracystic BilIN|gallbladder intraepithelial neoplasia|intracystic biliary intraepithelial neoplasia|gallbladder biliary intraepithelial neoplasia UMLS:C1708174|EFO:1000265|NCIT:C43606 owl:Class UBERON:0003330 biolink:NamedThing submucosa of rectum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005837 biolink:NamedThing mandibular cancer A malignant neoplasm involving the mandible tmpte7i6ely_mondo_relaxed.owl mandible cancer|malignant mandible neoplasm|malignant neoplasm of lower jaw bone|malignant neoplasm of mandible|cancer of mandible|mandibular neoplasm|malignant neoplasm of inferior maxilla|neoplasm of mandible DOID:2338|MESH:D008339|ICD9:170.1|EFO:0007356|SCTID:448668007|ICD10:C41.1|NCIT:C35178 owl:Class MONDO:0100126 biolink:NamedThing P5CS deficiency An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy. tmpte7i6ely_mondo_relaxed.owl delta1-pyrroline-5-carboxylate synthetase deficiency|P5CS deficiency http://orcid.org/0000-0001-5208-3432 owl:Class GO:0120188 biolink:NamedThing regulation of bile acid secretion Any process that modulates the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12843 biolink:NamedThing YME1L1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100450 biolink:NamedThing CAPN5-related vitreoretinopathy An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients. tmpte7i6ely_mondo_relaxed.owl CAPN5 vitreoretinopathy|vitreoretinopathy, neovascular inflammatory, autosomal dominant|VRNI|ADNIV|retinitis proliferans|autosomal dominant neovascular inflammatory vitreoretinopathy|vitreoretinopathy, neovascular inflammatory|proliferative vitreoretinopathy owl:Class GO:0070192 biolink:NamedThing chromosome organization involved in meiotic cell cycle A process of chromosome organization that is involved in a meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl chromosome organisation involved in meiosis|meiotic chromosome organization owl:Class GO:0051276 biolink:NamedThing chromosome organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. tmpte7i6ely_mondo_relaxed.owl chromosome organisation|maintenance of genome integrity|chromosome organization and biogenesis|nuclear genome maintenance owl:Class GO:2000224 biolink:NamedThing regulation of testosterone biosynthetic process Any process that modulates the frequency, rate or extent of testosterone biosynthetic process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005255 biolink:NamedThing mild heart failure Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity. tmpte7i6ely_mondo_relaxed.owl EFO:0003147|Wikipedia:New_York_Heart_Association_Functional_Classification owl:Class MONDO:0001315 biolink:NamedThing neurocirculatory asthenia A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. tmpte7i6ely_mondo_relaxed.owl Da Costa's syndrome|cardiovascular neurosis|cardiovascular malfunction arising from mental factors|Krishaber's disease DOID:11569|ICD9:306.2|MESH:D009449|SCTID:191962000 owl:Class SO:1000029 biolink:NamedThing chromosomal_deletion An incomplete chromosome. tmpte7i6ely_mondo_relaxed.owl chromosomal deletion|deficiency|(fungi)D|(Drosophila)Df|(bacteria)&Dgr; owl:Class SO:1000028 biolink:NamedThing intrachromosomal_mutation A chromosomal structure variation within a single chromosome. tmpte7i6ely_mondo_relaxed.owl intrachromosomal mutation owl:Class UBERON:0001650 biolink:NamedThing hypoglossal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004491 biolink:NamedThing uterine corpus choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. tmpte7i6ely_mondo_relaxed.owl uterine corpus gestational choriocarcinoma|choriocarcinoma|body of uterus choriocarcinoma (disease)|gestational uterine corpus choriocarcinoma DOID:8188|UMLS:C1336904|NCIT:C27246|ONCOTREE:UCCA owl:Class ENVO:01001698 biolink:NamedThing polar front A weather front which separates air masses of tropical and polar origin. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014487 biolink:NamedThing congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. tmpte7i6ely_mondo_relaxed.owl SIFD|SIFD syndrome|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ICD10:D64.0|OMIM:616084|UMLS:C4015172|DOID:0080209|Orphanet:369861 owl:Class MONDO:0015132 biolink:NamedThing immunodeficiency predominantly affecting antibody production tmpte7i6ely_mondo_relaxed.owl ICD10:D80.4|ICD10:D80.3|ICD10:D80.8|ICD10:D80.5|ICD10:D80.2|ICD10:D80.0|ICD10:D80.7|Orphanet:101977|ICD10:D80.9|ICD10:D80.6|ICD10:D80.1 owl:Class MONDO:0011539 biolink:NamedThing nemaline myopathy 5 Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy caused by mutation in TNNT1|nemaline myopathy 5|ANM|TNNT1 nemaline myopathy|nemaline myopathy, caused by mutation in the troponin t1 gene|Amish nemaline myopathy|NEM5|nemaline myopathy 5, Amish type|nemaline myopathy, Amish type|nemaline myopathy type 5 Orphanet:98902|DOID:0110936|UMLS:C1854380|GARD:0008334|ICD10:G71.2|OMIM:605355|MESH:C538397|Orphanet:607 owl:Class MONDO:0023288 biolink:NamedThing green sandford davison syndrome tmpte7i6ely_mondo_relaxed.owl anal anomalies, renal tract abnormalities, genital malformations, and syndactyly|renal and anogenital malformations with syndactyly UMLS:C2931777|GARD:0002447|MESH:C538221 https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome owl:Class MONDO:0024358 biolink:NamedThing complex sleep apnea A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. tmpte7i6ely_mondo_relaxed.owl mixed sleep apnea|complex sleep apnea|CompSAS DOID:0080302|SCTID:230493001 owl:Class UBERON:0012477 biolink:NamedThing dorsal part of neck tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005434 biolink:NamedThing cervical region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003031 biolink:NamedThing endometrioid stromal and related neoplasms of the cervix A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. tmpte7i6ely_mondo_relaxed.owl cervix endometrial stromal tumor|endometrioid stromal and related neoplasms of the cervix|endometrioid stromal and related tumors of the cervix NCIT:C40218|UMLS:C4289586|DOID:4521 owl:Class HGNC:4454 biolink:NamedThing GPC6 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000782 biolink:NamedThing myeloid dendritic cell A dendritic cell of the myeloid lineage. tmpte7i6ely_mondo_relaxed.owl interdigitating cell|CD11c+CD123- DC|veiled cell|mDC BTO:0004721 These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). cell owl:Class MONDO:0002957 biolink:NamedThing sarcomatoid basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl skin sarcomatoid basal cell carcinoma UMLS:C1519182|NCIT:C38111|DOID:4303 owl:Class MONDO:0004124 biolink:NamedThing prostate stromal sarcoma A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism. tmpte7i6ely_mondo_relaxed.owl stromal sarcoma of the prostate|prostate stromal sarcoma|stromal sarcoma of prostate DOID:7152|NCIT:C5524|UMLS:C1335521 owl:Class NCIT:C35461 biolink:NamedThing Clinical Course of Disease tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C3367 biolink:NamedThing Finding tmpte7i6ely_mondo_relaxed.owl Finding owl:Class UBERON:0003103 biolink:NamedThing compound organ tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:OBA_1001084 biolink:NamedThing feces osmolality The osmolality of a feces. tmpte7i6ely_mondo_relaxed.owl osmolality of feces owl:Class HGNC:7981 biolink:NamedThing NR4A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011450 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 1 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. tmpte7i6ely_mondo_relaxed.owl breast cancer, familial, susceptibility to, 1|breast-ovarian cancer, familial, susceptibility to, type 1|susceptibility to familial breast-ovarian cancer 1|breast-ovarian cancer, familial, susceptibility to, 1|BROVCA1|BRCA1 hereditary breast ovarian cancer syndrome|hereditary breast ovarian cancer syndrome caused by mutation in BRCA1|ovarian cancer, familial, susceptibility to, 1 Orphanet:145|OMIM:604370|Orphanet:227535 owl:Class HGNC:30348 biolink:NamedThing POLR3B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030279 biolink:NamedThing negative regulation of ossification Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpte7i6ely_mondo_relaxed.owl down-regulation of ossification|downregulation of ossification|negative regulation of bone biosynthesis|inhibition of ossification|negative regulation of bone formation|down regulation of ossification owl:Class MONDO:0015447 biolink:NamedThing differentiated thyroid carcinoma Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass. tmpte7i6ely_mondo_relaxed.owl thyroid gland differentiated carcinoma|well-differentiated thyroid cancer|differentiated thyroid gland cancer|papillary or follicular thyroid carcinoma|differentiated thyroid gland carcinoma|differentiated thyroid cancer|well differentiated thyroid carcinoma|well differentiated thyroid gland carcinoma|well-differentiated thyroid carcinoma|differentiated thyroid carcinoma|thyroid gland well differentiated carcinoma UMLS:C0238463|ONCOTREE:WDTC|Orphanet:146|UMLS:C1337013|OMIM:188550|OMIM:607464|DOID:0080525|ICD10:C73|NCIT:C7153|EFO:1002017 owl:Class CHEBI:76760 biolink:NamedThing EC 3.1.* (ester hydrolase) inhibitor A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*). tmpte7i6ely_mondo_relaxed.owl EC 3.1.* inhibitor|ester hydrolase (EC 3.1.*) inhibitors|EC 3.1.* inhibitors|ester hydrolase inhibitors|ester hydrolase inhibitor|EC 3.1.* (ester hydrolase) inhibitors|ester hydrolase (EC 3.1.*) inhibitor owl:Class CHEBI:76759 biolink:NamedThing EC 3.* (hydrolase) inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). tmpte7i6ely_mondo_relaxed.owl hydrolase inhibitor|EC 3.* (hydrolase) inhibitors|hydrolase (EC 3.*) inhibitor|EC 3.*.*.* inhibitors|hydrolase inhibitors|EC 3.* inhibitor|EC 3.*.*.* inhibitor|hydrolase (EC 3.*) inhibitors|EC 3.* inhibitors owl:Class MONDO:0015231 biolink:NamedThing Bartter syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. tmpte7i6ely_mondo_relaxed.owl salt-wasting tubulopathy, Henle's loop type|renal tubular normotensive hypokalemic alkalosis with hypercalciuria|aldosteronism with hyperplasia of the adrenal cortex|hypokalemic alkalosis|Bartter disease|hypokalemic alkalosis with hypercalciuria|Potassium wasting|Bartter's syndrome|salt-losing tubular disorder, Henle's loop type OMIM:607364|MESH:D001477|OMIM:601678|ICD9:255.13|GARD:0005893|OMIM:602522|OMIM:613090|NCIT:C34412|MedDRA:10050839|Orphanet:112|OMIM:241200|ICD10:E26.8|SCTID:707742001|OMIM:300971|DOID:445|UMLS:C0004775|OMIM:601198|ICD10:E26.81|OMIMPS:601678|UMLS:C0085570 https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome owl:Class MONDO:0001558 biolink:NamedThing Potter sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. tmpte7i6ely_mondo_relaxed.owl Potter's syndrome|Potter's sequence|Potter syndrome|oligohydramnios sequence GARD:0004462|UMLS:C0178426|NCIT:C40435|DOID:12594|SCTID:41962002|ICD10:Q60.6 Editor note: check for subtypes, relationship to OMIM:263200 owl:Class MONDO:0001626 biolink:NamedThing traumatic glaucoma tmpte7i6ely_mondo_relaxed.owl glaucoma associated with ocular trauma DOID:13060|ICD9:365.65|UMLS:C0339594|SCTID:68241007 owl:Class GO:0000050 biolink:NamedThing urea cycle The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate. tmpte7i6ely_mondo_relaxed.owl urea biosynthesis|urea biosynthetic process|ornithine cycle owl:Class MONDO:0007150 biolink:NamedThing arcus senilis A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. tmpte7i6ely_mondo_relaxed.owl arcus of cornea|corneal arcus|arcus senilis|arcus corneae OMIM:107800|MedDRA:10003082|UMLS:C0003742|EFO:1000818|DOID:11342|MESH:D001112|ICD10:H18.41|SCTID:231924000 owl:Class GO:1903034 biolink:NamedThing regulation of response to wounding Any process that modulates the frequency, rate or extent of response to wounding. tmpte7i6ely_mondo_relaxed.owl regulation of physiological response to wounding owl:Class MONDO:0007881 biolink:NamedThing tooth agenesis, selective, 4 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. tmpte7i6ely_mondo_relaxed.owl tooth agenesis, selective, 4|tooth agenesis, selective, type 4|STHAG4|succedaneous teeth, agenesis of|WNT10A tooth agenesis|tooth agenesis, selective, 4, with or without ectodermal dysplasia|lateral incisors, pegged or missing|lateral incisors, absence of|tooth agenesis caused by mutation in WNT10A MESH:C563634|Orphanet:99798|OMIM:150400 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0008006 biolink:NamedThing Mobius syndrome Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. tmpte7i6ely_mondo_relaxed.owl Mobius syndrome|MBS|Moebius sequence|Moebius congenital oculofacial paralysis|congenital facial diplegia|congenital oculofacial paralysis|Möbius syndrome|oromandibular-limb hypogenesis spectrum|absence or underdevelopment of the 6th and 7th cranial nerves|congenital facial diplegia syndrome|Moebius syndrome ICD10:Q87.0|OMIM:157900|Orphanet:570|EFO:1001046|MESH:D020331|DOID:13501|MedDRA:10030069|ICD9:759.89|NCIT:C84893|MedDRA:10027789|UMLS:C0853240|GARD:0008549|SCTID:89444000|UMLS:C0221060 owl:Class MONDO:0017580 biolink:NamedThing 11p15.4 microduplication syndrome 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. tmpte7i6ely_mondo_relaxed.owl dup(11)p(15.4)|trisomy 11p15.4 Orphanet:300305|UMLS:CN203376|ICD10:Q92.3 owl:Class GO:0044247 biolink:NamedThing cellular polysaccharide catabolic process The chemical reactions and pathways resulting in the breakdown of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular polysaccharide catabolism|cellular polysaccharide breakdown|cellular polysaccharide degradation owl:Class GO:0044275 biolink:NamedThing cellular carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular carbohydrate degradation|cellular carbohydrate breakdown|cellular carbohydrate catabolism owl:Class UBERON:0006822 biolink:NamedThing proximal epiphysis of ulna tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042578 biolink:NamedThing phosphoric ester hydrolase activity Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016788 biolink:NamedThing hydrolase activity, acting on ester bonds Catalysis of the hydrolysis of any ester bond. tmpte7i6ely_mondo_relaxed.owl esterase activity owl:Class MONDO:0022880 biolink:NamedThing corticobasal degeneration tmpte7i6ely_mondo_relaxed.owl cortical basal ganglionic degeneration|corticobasal degeneration|corticodentatonigral degeneration with neuronal achromasia SCTID:18842008 owl:Class MONDO:0006833 biolink:NamedThing lingual goiter Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. tmpte7i6ely_mondo_relaxed.owl SCTID:75667007|DOID:13196|UMLS:C0271760|MESH:D047268|ICD9:759.2|EFO:1001018 owl:Class MONDO:0005397 biolink:NamedThing goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. tmpte7i6ely_mondo_relaxed.owl goiter|Thyromegaly|goiter (disease)|goitre goiter (disease) SCTID:3716002|HP:0000853|NCIT:C26785|DOID:12176|ICD9:240.9|MESH:D006042|EFO:0004283|ICD10:E04.9 owl:Class MONDO:0012928 biolink:NamedThing hereditary spastic paraplegia 42 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spastic paraplegia type 42|spastic paraplegia 42, autosomal dominant|SLC33A1 autosomal dominant pure spastic paraplegia|hereditary spastic paraplegia type 42|autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1|autosomal dominant spastic paraplegia 42|SPG42 DOID:0110794|OMIM:612539|SCTID:763070001|UMLS:C2675528|ICD10:G11.4|Orphanet:171863|MESH:C567262 owl:Class MONDO:0011337 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 2 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene. tmpte7i6ely_mondo_relaxed.owl HPLH2|genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1|HLH2|familial hemophagocytic lymphohistiocytosis type 2|hemophagocytic lymphohistiocytosis, familial, type 2|Hplh2|PRF1 genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, 2|Hlh2|FHL2 DOID:0110922|MESH:C537250|OMIM:603553|Orphanet:540|GARD:0009922 https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2 owl:Class GO:0016485 biolink:NamedThing protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. tmpte7i6ely_mondo_relaxed.owl protein maturation by peptide bond hydrolysis|protein maturation by peptide bond cleavage|peptidolysis during protein maturation|protein maturation by proteolysis owl:Class GO:0051604 biolink:NamedThing protein maturation Any process leading to the attainment of the full functional capacity of a protein. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070857 biolink:NamedThing regulation of bile acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpte7i6ely_mondo_relaxed.owl regulation of bile acid synthesis|regulation of bile acid anabolism|regulation of bile acid formation|regulation of bile acid biosynthesis owl:Class GO:1904251 biolink:NamedThing regulation of bile acid metabolic process Any process that modulates the frequency, rate or extent of bile acid metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of bile acid metabolism owl:Class MONDO:0002434 biolink:NamedThing oculomotor nerve cancer A cancer involving a oculomotor nerve. tmpte7i6ely_mondo_relaxed.owl IIIrd cranial nerve neoplasm, malignant|cancer of oculomotor nerve|oculomotor nerve neoplasm, malignant|malignant oculomotor nerve neoplasm|malignant oculomotor nerve tumor|oculomotor nerve cancer|primary malignant neoplasm of oculomotor nerve|malignant neoplasm of oculomotor nerve NCIT:C6995|DOID:2816|UMLS:C0686417|SCTID:93929003 owl:Class MONDO:0007332 biolink:NamedThing split-hand/foot malformation with long bone deficiency 1 tmpte7i6ely_mondo_relaxed.owl SHFLD1|split-hand/foot malformation with long bone deficiency|cleft hand and absent tibia|ectrodactyly with aplasia of long bones|split-hand/foot malformation with long bone deficiency 1|tibial aplasia with split-hand-split-foot deformity|aplasia of tibia with ectrodactyly|split-hand-foot malformation with long bone deficiency|SHFLD|tibial aplasia with split-hand/split-foot deformity|cleft hand absent tibia OMIM:119100|Orphanet:3329|MESH:C536425 owl:Class MONDO:0006643 biolink:NamedThing alcoholic cardiomyopathy A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy secondary to alcohol|alcoholic cardiomyopathy|alcohol-induced heart muscle disease NCIT:C53653|SCTID:83521008|ICD9:425.5|MESH:D002310|DOID:12935|MedDRA:10001616|ICD10:I42.6|EFO:1000801|UMLS:C0007192 owl:Class MONDO:0021699 biolink:NamedThing alcohol-induced disorders Disorders stemming from the misuse and abuse of alcohol. tmpte7i6ely_mondo_relaxed.owl alcohol-induced disorder|alcohol induced disorders UMLS:C0236970|SCTID:719848005|MESH:D020751 owl:Class UBERON:0001019 biolink:NamedThing nerve fasciculus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000122 biolink:NamedThing neuron projection bundle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022694 biolink:NamedThing cerebral calcifications opalescent teeth phosphaturia tmpte7i6ely_mondo_relaxed.owl GARD:0001202 https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia owl:Class HGNC:8967 biolink:NamedThing PIGN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000078 biolink:NamedThing acrocephalopolysyndactyly A common presentation of craniosynostosis and polysyndactyly. tmpte7i6ely_mondo_relaxed.owl ACPS UMLS:C0687154|SCTID:205260006 owl:Class MONDO:0020512 biolink:NamedThing precursor T-cell acute lymphoblastic leukemia tmpte7i6ely_mondo_relaxed.owl precursor T-cell acute lymphoblastic leukemia/lymphoma|T-ALL|precursor T-cell acute lymphocytic leukemia|precursor T-cell acute lymphocytic leukemia/lymphoma Orphanet:99861|ICD10:C91.0 owl:Class MONDO:0008390 biolink:NamedThing Rombo syndrome Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. tmpte7i6ely_mondo_relaxed.owl Rombo syndrome|vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis SCTID:721904001|ICD10:L98.8|UMLS:C1867147|Orphanet:3110|OMIM:180730|GARD:0004738|MESH:C535870 https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome owl:Class CHEBI:36357 biolink:NamedThing polyatomic entity Any molecular entity consisting of more than one atom. tmpte7i6ely_mondo_relaxed.owl polyatomic entities owl:Class GO:1905208 biolink:NamedThing negative regulation of cardiocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of cardiocyte differentiation|inhibition of cardiac cell differentiation|down regulation of heart cell differentiation|down-regulation of cardiac cell differentiation|downregulation of heart cell differentiation|downregulation of cardiac cell differentiation|negative regulation of heart cell differentiation|inhibition of heart cell differentiation|down regulation of cardiac cell differentiation|inhibition of cardiocyte differentiation|downregulation of cardiocyte differentiation|negative regulation of cardiac cell differentiation|down-regulation of heart cell differentiation|down regulation of cardiocyte differentiation owl:Class UBERON:0005146 biolink:NamedThing metanephric nephron tubule tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9052 biolink:NamedThing PLAU tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002563 biolink:NamedThing intestinal epithelial cell An epithelial cell of the intestine. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-01T05:18:31Z cell owl:Class MONDO:0012056 biolink:NamedThing Leber congenital amaurosis 9 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene. tmpte7i6ely_mondo_relaxed.owl LCA9|Leber congenital amaurosis 9|Leber congenital amaurosis caused by mutation in NMNAT1|amaurosis congenita of Leber, type 9|NMNAT1 Leber congenital amaurosis|Leber congenital amaurosis type 9 Orphanet:65|DOID:0110005|ICD10:H35.5|MESH:C536603|GARD:0009491|OMIM:608553 https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9 owl:Class MONDO:0025135 biolink:NamedThing tuberculosis, avian A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells. tmpte7i6ely_mondo_relaxed.owl Avian tuberculosis|Avian Tuberculoses|Tuberculoses, Avian UMLS:C0041306|EFO:1001440|MESH:D014379 owl:Class MONDO:0018076 biolink:NamedThing tuberculosis A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. tmpte7i6ely_mondo_relaxed.owl tuberculosis disease|Kochs disease|TB|active tuberculosis ICD9:017.92|ICD9:017.96|DOID:399|NCIT:C3423|MESH:D014376|ICD10:A15.A19|ICD9:017.94|OMIM:607948|UMLS:C0041296|UMLS:C0151332|ICD9:017.90|Orphanet:3389|SCTID:56717001|GARD:0007827|MedDRA:10044755 https://rarediseases.info.nih.gov/diseases/7827/tuberculosis owl:Class UBERON:0002392 biolink:NamedThing nasolacrimal duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902339 biolink:NamedThing positive regulation of apoptotic process involved in morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpte7i6ely_mondo_relaxed.owl upregulation of apoptosis involved in development|positive regulation of apoptosis involved in morphogenesis|activation of apoptosis involved in development|up-regulation of morphogenetic apoptosis|activation of apoptosis involved in morphogenesis|positive regulation of apoptosis involved in development|up-regulation of apoptosis involved in development|up-regulation of apoptosis involved in morphogenesis|up regulation of apoptosis involved in morphogenesis|activation of morphogenetic apoptosis|up regulation of apoptotic process involved in morphogenesis|up regulation of apoptosis involved in development|positive regulation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up regulation of morphogenetic apoptosis|upregulation of morphogenetic apoptosis|upregulation of apoptosis involved in morphogenesis|activation of apoptotic process involved in morphogenesis|up-regulation of apoptotic process involved in morphogenesis owl:Class GO:1902337 biolink:NamedThing regulation of apoptotic process involved in morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpte7i6ely_mondo_relaxed.owl regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development|regulation of morphogenetic apoptosis owl:Class MONDO:0001812 biolink:NamedThing parasitic eyelid infestation tmpte7i6ely_mondo_relaxed.owl parasitic infestation of eyelid|parasitic eyelid infestation UMLS:C0155183|ICD9:373.6|DOID:13823|SCTID:193922006 owl:Class UBERON:0010955 biolink:NamedThing trapezius pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015267 biolink:NamedThing Feingold syndrome Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. tmpte7i6ely_mondo_relaxed.owl microcephaly-oculo-digito-esophageal-duodenal syndrome|microcephaly-digital anomalies-normal intelligence syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|oculo-digito-esophageal-duodenal syndrome|FGLDS|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|FS|MODED syndrome|Brunner-Winter syndrome|ODED syndrome|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|MMT OMIM:164280|OMIM:614326|GARD:0008407|OMIMPS:164280|NCIT:C74987|DOID:0060464|ICD10:Q87.8|Orphanet:1305 owl:Class MONDO:0012142 biolink:NamedThing orofacial cleft 5 Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene. tmpte7i6ely_mondo_relaxed.owl orofacial cleft caused by mutation in MSX1|orofacial cleft type 5|orofacial cleft 5|OFC5|MSX1 orofacial cleft|cleft lip with or without cleft palate, nonsyndromic, 5 UMLS:C1837210|MESH:C563843|Orphanet:1991|DOID:0080399|OMIM:608874 owl:Class MONDO:0014619 biolink:NamedThing trichothiodystrophy 3, photosensitive tmpte7i6ely_mondo_relaxed.owl trichothiodystrophy 3, photosensitive|trichothiodystrophy, complementation group A|TTD3 UMLS:C4017171|OMIM:616395 owl:Class MONDO:0020560 biolink:NamedThing atypical teratoid rhabdoid tumor Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. tmpte7i6ely_mondo_relaxed.owl rhabdoid tumor of central nervous system|rhabdoid tumor of the central nervous system|rhabdoid neoplasm of the CNS|ATT/RHT|rhabdoid neoplasm of central nervous system|rhabdoid tumor of the CNS|rhabdoid neoplasm of CNS|CNS rhabdoid tumor|CNS rhabdoid neoplasm|central nervous system rhabdoid neoplasm|atypical teratoid/rhabdoid tumor (morphologic abnormality)|primary malignant rhabdoid neoplasm of the brain|atypical teratoid/rhabdoid tumor (WHO grade IV)|primary malignant brain rhabdoid neoplasm|AT/RT|ATRT|primary malignant rhabdoid tumor of brain|rhabdoid neoplasm of the central nervous system|malignant rhabdoid tumor of brain|primary malignant rhabdoid neoplasm of brain|malignant rhabdoid neoplasm of the brain|malignant rhabdoid neoplasm of brain|atypical teratoid/rhabdoid tumor|rhabdoid tumor predisposition syndrome|central nervous system rhabdoid tumor|rhabdoid tumor of CNS|primary malignant brain rhabdoid tumor|malignant rhabdoid tumor of the brain|malignant brain rhabdoid neoplasm|malignant brain rhabdoid tumor|primary malignant rhabdoid tumor of the brain ICD10:C49.9|EFO:1002008|DOID:2129|NCIT:C6906|ONCOTREE:ATRT|ICDO:9508/3|Orphanet:99966|UMLS:CN207484|UMLS:C1266184|OMIM:609322 owl:Class MONDO:0011219 biolink:NamedThing Fried's tooth and nail syndrome tmpte7i6ely_mondo_relaxed.owl ECTD8|ectodermal dysplasia 8, hair/tooth/nail type SCTID:239020008|Orphanet:99672|OMIM:602401|UMLS:C0406715|DOID:0111661 owl:Class HGNC:11503 biolink:NamedThing SYNJ1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33358 biolink:NamedThing cobalt group element atom tmpte7i6ely_mondo_relaxed.owl cobalt group element|group 9 elements|cobalt group elements owl:Class GO:0002225 biolink:NamedThing positive regulation of antimicrobial peptide production Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. tmpte7i6ely_mondo_relaxed.owl up-regulation of antimicrobial peptide production|antimicrobial peptide induction|activation of antimicrobial peptide production|stimulation of antimicrobial peptide production|upregulation of antimicrobial peptide production|up regulation of antimicrobial peptide production owl:Class UBERON:0004673 biolink:NamedThing trigeminal nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003544 biolink:NamedThing spinal cord cancer A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl spinal neoplasm|malignant neoplasm of the spinal cord|malignant neoplasm of spinal cord|spinal cord neoplasm|spinal cancer|malignant spinal cord neoplasm|tumor of the spinal cord|spinal cord cancer|spine cancer|malignant tumor of the spinal cord|cancer of spinal cord|intraspinal tumor|malignant spinal cord tumor|malignant tumor of spinal cord NCIT:C3381|UMLS:C0037930|SCTID:363475005|ICD9:192.2|ICD10:C72.0|NCIT:C3572|DOID:5612|UMLS:C0153646 owl:Class GO:0032369 biolink:NamedThing negative regulation of lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down-regulation of lipid transport|downregulation of lipid transport|inhibition of lipid transport|down regulation of lipid transport owl:Class GO:2000147 biolink:NamedThing positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell motility. tmpte7i6ely_mondo_relaxed.owl positive regulation of cell movement|positive regulation of cell locomotion|positive regulation of movement of a cell owl:Class HGNC:7027 biolink:NamedThing MERTK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003295 biolink:NamedThing leiomyomatosis A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. tmpte7i6ely_mondo_relaxed.owl leiomyomatosis, no ICD-O subtype (morphologic abnormality)|leiomyomatosis|leiomyomatosis, no ICD-O subtype DOID:5138|UMLS:C0206654|ICDO:8890/1|NCIT:C3748|MESH:D018231 owl:Class UBERON:0015329 biolink:NamedThing respiratory system basement membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015238 biolink:NamedThing pineal complex tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061526 biolink:NamedThing acetylcholine secretion The regulated release of acetylcholine by a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015870 biolink:NamedThing acetylcholine transport The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012770 biolink:NamedThing prostate cancer, hereditary, 15 tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, 15|HPC15 MESH:C567447|UMLS:C2677771|Orphanet:1331|OMIM:611959 owl:Class CL:1001586 biolink:NamedThing mammary gland glandular cell Glandular cell of mammary epithelium. Example: glandular cells of large and intermediate ducts, glandular cells in terminal ducts. tmpte7i6ely_mondo_relaxed.owl breast glandular cells|breast glandular cell|mammary glandular cell CALOHA:TS-1272 owl:Class MONDO:0020772 biolink:NamedThing epilepsy, juvenile absence, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl JAE1|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1|EJA1 OMIM:607631|DOID:0111324 owl:Class MONDO:0011145 biolink:NamedThing colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl coloboma-obesity-hypogenitalism-intellectual disability syndrome|coloboma-obesity-hypogenitalism-mental retardation syndrome OMIM:601794|MESH:C566623|UMLS:C1866256|ICD10:Q87.8|Orphanet:363741 owl:Class MONDO:0016088 biolink:NamedThing hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. tmpte7i6ely_mondo_relaxed.owl HPRT deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency|HPRT1 deficiency UMLS:C0023374|ICD9:277.6|SCTID:124275001|ICD10:E79.8|GARD:0002943|Orphanet:206428 owl:Class MONDO:0020112 biolink:NamedThing vitamin B12- and folate-independent constitutional megaloblastic anemia tmpte7i6ely_mondo_relaxed.owl ICD10:D53.8|ICD10:D53.1|ICD10:D53.9|ICD10:D53.2|Orphanet:98415|ICD10:D53.0 owl:Class MONDO:0006471 biolink:NamedThing tracheal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes. tmpte7i6ely_mondo_relaxed.owl trachea adenoid cystic carcinoma|tracheal adenoid cystic carcinoma|adenoid cystic carcinoma of trachea|adenoid cystic carcinoma of the trachea DOID:4875|UMLS:C0345945|SCTID:254619006|NCIT:C6051|EFO:1000598 owl:Class HP:0000421 biolink:NamedThing Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. tmpte7i6ely_mondo_relaxed.owl Nose bleed|Nasal hemorrhage|Nasal haemorrhage|Bloody nose|Nosebleed|Nose bleeding|Frequent nosebleeds SNOMEDCT_US:249366005|COHD:318556|EFO:0003895|NCIT:C26766|ICD9:784.7|MSH:D004844|UMLS:C0014591|SNOMEDCT_US:12441001|ICD10:R04.0 human_phenotype owl:Class MONDO:0018926 biolink:NamedThing human prion disease Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ). tmpte7i6ely_mondo_relaxed.owl TSE|transmissible spongiform encephalopathy ICD10:A81.0|ICD10:A81.9|ICD10:A81.8|Orphanet:56970|ICD10:A81.1 owl:Class HGNC:11604 biolink:NamedThing TBX5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015239 biolink:NamedThing abnormal origin of the pulmonary artery tmpte7i6ely_mondo_relaxed.owl Orphanet:1138|ICD10:Q25.7|SCTID:68092007 owl:Class MONDO:0016581 biolink:NamedThing conotruncal heart malformations Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). tmpte7i6ely_mondo_relaxed.owl Taussig-Bing syndrome or defect|interrupted aortic Arch|conotruncal heart malformations|conotruncal anomaly face syndrome|persistent truncus arteriosus|truncus arteriosus communis|Double-outlet right ventricle|CTHM|conotruncal cardiac defects OMIM:217095|SCTID:218728005|ICD9:747.11|UMLS:C1857586|Orphanet:2445|GARD:0008189 owl:Class MONDO:0014194 biolink:NamedThing mitochondrial complex III deficiency nuclear type 6 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in CYC1|MC3DN6|CYC1 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 6|mitochondrial Complex 3 deficiency, nuclear type 6 OMIM:615453|UMLS:C3809553|DOID:0080115|Orphanet:1460 owl:Class MONDO:0004076 biolink:NamedThing tendon sheath lipoma A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. tmpte7i6ely_mondo_relaxed.owl tendon sheath lipoma|lipoma of tendon sheath|lipoma of the tendon sheath NCIT:C6499|UMLS:C1336703|DOID:7016 owl:Class MONDO:0004038 biolink:NamedThing dental enamel hypoplasia Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. tmpte7i6ely_mondo_relaxed.owl enamel hypoplasia SCTID:26597004|EFO:1001304|DOID:693|NCIT:C34529|MESH:D003744|UMLS:C0011351 owl:Class GO:1903431 biolink:NamedThing positive regulation of cell maturation Any process that activates or increases the frequency, rate or extent of cell maturation. tmpte7i6ely_mondo_relaxed.owl up-regulation of cell maturation|activation of functional differentiation|positive regulation of functional differentiation|upregulation of functional differentiation|upregulation of cell maturation|activation of cell maturation|up-regulation of functional differentiation|up regulation of functional differentiation|up regulation of cell maturation owl:Class GO:0010720 biolink:NamedThing positive regulation of cell development Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022895 biolink:NamedThing craniosynostosis cleft lip palate arthrogryposis tmpte7i6ely_mondo_relaxed.owl GARD:0001590 https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis owl:Class UBERON:0003429 biolink:NamedThing abdomen nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008928 biolink:NamedThing cataract-ataxia-deafness syndrome Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl cataract ataxia deafness syndrome|cataract-ataxia-deafness-retardation syndrome|polyneuropathy-cataract-deafness syndrome|Begeer syndrome|polyneuropathy, cataract, deafness syndrome|cataract ataxia deafness MESH:C538283|GARD:0001141|OMIM:212710|ICD10:G11.2|Orphanet:1368|UMLS:C0796123 owl:Class UBERON:0035831 biolink:NamedThing costal diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002097 biolink:NamedThing neoplastic, malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000389 biolink:NamedThing acute A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq27 biolink:NamedThing Xq27 (Human) tmpte7i6ely_mondo_relaxed.owl 148000000 138900000 hg38 owl:Class NCBITaxon:9606 biolink:NamedThing Homo sapiens tmpte7i6ely_mondo_relaxed.owl human|man GC_ID:1 ncbi_taxonomy owl:Class HP:0002027 biolink:NamedThing Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. tmpte7i6ely_mondo_relaxed.owl Pain in stomach|Abdominal pain|Abdominal discomfort|Upset stomach|Gastrointestinal pain|Stomach pain|Gastro pain SNOMEDCT_US:21522001|MEDDRA:10000081|UMLS:C0000737|MSH:D015746 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. human_phenotype owl:Class MONDO:0013439 biolink:NamedThing congenital bile acid synthesis defect 3 Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. tmpte7i6ely_mondo_relaxed.owl CYP7B1 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in CYP7B1|CBAS3|BASD3|bile acid synthesis defect, congenital, type 3|oxysterol 7-alpha-hydroxylase deficiency|congenital bile acid synthesis defect type 3|bile acid synthesis defect, congenital, 3 Orphanet:79302|UMLS:C3151147|ICD10:K76.8|OMIM:613812|MESH:C566340|SCTID:719454003|UMLS:C4304715|DOID:0111070 owl:Class HGNC:2652 biolink:NamedThing CYP7B1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000679 biolink:NamedThing positive regulation of transcription regulatory region DNA binding Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001820 biolink:NamedThing serotonin secretion The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. tmpte7i6ely_mondo_relaxed.owl serotonin release|5-HT secretion|5-hydroxytryptamine secretion owl:Class MONDO:0013446 biolink:NamedThing Leber congenital amaurosis 6 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis caused by mutation in RPGRIP1|Leber congenital amaurosis 6|Leber congenital amaurosis type 6|LCA6|RPGRIP1 Leber congenital amaurosis GARD:0010490|DOID:0110329|OMIM:613826|HGNC:13436|ICD10:H35.5|MESH:C565327 https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6 owl:Class HGNC:13436 biolink:NamedThing RPGRIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002451 biolink:NamedThing benign prostate phyllodes tumor A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells. tmpte7i6ely_mondo_relaxed.owl prostate phyllodes tumor|benign prostate phyllodes neoplasm|phyllodes neoplasm of the prostate|benign phyllodes neoplasm of prostate|benign phyllodes neoplasm of the prostate|benign phyllodes tumor of the prostate|prostate phyllodes tumor, benign|benign phyllodes tumor of prostate|benign prostate phyllodes tumor UMLS:C1332535|UMLS:C1335409|NCIT:C7574|NCIT:C5532|DOID:2885 owl:Class PATO:0002096 biolink:NamedThing neoplastic, non-malignant A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. tmpte7i6ely_mondo_relaxed.owl benign owl:Class UBERON:0001476 biolink:NamedThing deltoid tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5 biolink:NamedThing chromosome 5 (Human) tmpte7i6ely_mondo_relaxed.owl 5 181538259 0 hg38 owl:Class MONDO:0001557 biolink:NamedThing olecranon bursitis A bursitis that involves the olecranon. tmpte7i6ely_mondo_relaxed.owl capped elbow|bursitis of elbow region|bursitis of elbow|olecranon bursitis|elbow bursitis|miner's elbow|elbow bursitis (& olecranon)|shoe boil|bursitis of olecranon|Miners' elbow UMLS:C3887895|ICD9:726.33|DOID:12581|ICD10:M70.2|UMLS:C0263962|SCTID:425940002 owl:Class MONDO:0003714 biolink:NamedThing bladder urachal squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl bladder urachal squamous cell carcinoma UMLS:C1511206|NCIT:C39845|DOID:5957 owl:Class UBERON:0011202 biolink:NamedThing urachus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013071 biolink:NamedThing Emery-Dreifuss muscular dystrophy 4, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy|EDMD4|Emery-Dreifuss muscular dystrophy 4 with variable features|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|EMERY-Dreifuss muscular dystrophy 4, autosomal dominant OMIM:612998|Orphanet:261|DOID:0070249|Orphanet:98853|UMLS:C2751807|MESH:C567831 owl:Class HGNC:17089 biolink:NamedThing SYNE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000480 biolink:NamedThing anismus A focal dystonia of the pelvic floor muscles during attempted defecation. tmpte7i6ely_mondo_relaxed.owl focal dystonia of anal region skeletal muscle|spastic pelvic floor syndrome|puborectalis syndrome|dyssynergic defecation|anal region skeletal muscle focal dystonia|sphincteric disobedience syndrome|dyskinetic puborectalis|rectosphincteric dyssynergia DOID:0050839|SCTID:83605009|UMLS:C0267601|ICD9:569.49 owl:Class GO:0030421 biolink:NamedThing defecation The expulsion of feces from the rectum. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018989 biolink:NamedThing recurrent acute pancreatitis Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems. tmpte7i6ely_mondo_relaxed.owl ICD10:K85.1|ICD10:K85.0|ICD10:K85.3|ICD10:K85.9|SCTID:197458008|Orphanet:64740|ICD10:K85.8|ICD10:K85.2|UMLS:C0267937|MedDRA:10033657 owl:Class MONDO:0021136 biolink:NamedThing rare A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet. tmpte7i6ely_mondo_relaxed.owl rare (European definition) owl:Class HGNC:10263 biolink:NamedThing RP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021486 biolink:NamedThing benign neoplasm of ciliary body A benign neoplasm that involves the ciliary body. tmpte7i6ely_mondo_relaxed.owl benign ciliary body neoplasm|benign neoplasm of the ciliary body|benign tumor of ciliary body|benign tumor of the ciliary body|benign ciliary body tumor|ciliary body benign neoplasm NCIT:C4779|SCTID:92060009|ICD9:224.0|UMLS:C0496894 owl:Class UBERON:0001775 biolink:NamedThing ciliary body tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002242 biolink:NamedThing nucleus pulposus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009166 biolink:NamedThing nucleotide catabolic process The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). tmpte7i6ely_mondo_relaxed.owl nucleotide breakdown|nucleotide catabolism|nucleotide degradation owl:Class MONDO:0007103 biolink:NamedThing amyotrophic lateral sclerosis type 1 tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis 1, autosomal recessive|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|amyotrophic lateral sclerosis type 1|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis, sporadic|amyotrophic lateral sclerosis, familial|FALS|amyotrophic lateral sclerosis, sporadic, included|ALS1|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis 1|amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400|MESH:C531617|Orphanet:803|DOID:0060193|ICD10:G12.2 owl:Class HGNC:11179 biolink:NamedThing SOD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002148 biolink:NamedThing locus ceruleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003023 biolink:NamedThing pontine tegmentum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005890 biolink:NamedThing osteitis fibrosa A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism. tmpte7i6ely_mondo_relaxed.owl osteitis fibrosa cystica generalisata|Von Recklinghausen disease of Bone|hyperparathyroid bone disease|osteitis fibrosa cystica|Von Recklinghausen's bone disease|Von Recklinghausen's disease of Bone EFO:0007413|SCTID:84727000|UMLS:C0029405|DOID:3341|NCIT:C34875|MESH:D010002 owl:Class HP:0000752 biolink:NamedThing Hyperactivity Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. tmpte7i6ely_mondo_relaxed.owl Hyperactive behavior|Hyperactive behaviour|More active than typical SNOMEDCT_US:44548000|MSH:D006948|UMLS:C0424295 HP:0008764 human_phenotype owl:Class GO:0060407 biolink:NamedThing negative regulation of penile erection Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043084 biolink:NamedThing penile erection The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140236 biolink:NamedThing translation at presynapse Translation that occurs at the presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700127 biolink:NamedThing mosaic trisomy 21 Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0700062 biolink:NamedThing mosaic A disease characteristic in which the cause of the disease is present in some of the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0012142 biolink:NamedThing pedal digitopodium region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012152 biolink:NamedThing skeleton of pedal digitopodium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000095 biolink:NamedThing cardiac neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005428 biolink:NamedThing vagal neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17245 biolink:NamedThing carbon monoxide A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. tmpte7i6ely_mondo_relaxed.owl carbon(II) oxide|CARBON MONOXIDE|Carbon monoxide|carbon monoxide|CO|C#O|carbon monooxide|[CO] owl:Class CHEBI:62488 biolink:NamedThing signalling molecule A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. tmpte7i6ely_mondo_relaxed.owl signaling molecules|signaling molecule|signalling molecules|signal molecules|signal molecule owl:Class OBO:CHR_9606-chr22q1 biolink:NamedThing 22q1 (Human) tmpte7i6ely_mondo_relaxed.owl 50818468 15000000 hg38 owl:Class OBO:CHR_9606-chr22q biolink:NamedThing 22q (Human) tmpte7i6ely_mondo_relaxed.owl 50818468 15000000 hg38 owl:Class ExO:0000001 biolink:NamedThing exposure_receptor An entity (e.g., a human, human population, or a human organ) that interacts with an exposure stressor during an exposure event. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022926 biolink:NamedThing daentl towsend Siegel syndrome tmpte7i6ely_mondo_relaxed.owl hydrocephalus blue sclera nephropathy|familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome 2022-05-01 GARD:0000236|MESH:C535768 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome owl:Class UBERON:0000310 biolink:NamedThing breast tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18348 biolink:NamedThing TICAM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002203 biolink:NamedThing constipation disorder Irregular and infrequent or difficult evacuation of the bowels. tmpte7i6ely_mondo_relaxed.owl Dyschezia|constipation|colonic inertia ICD9:564.00|DOID:2089|ICD10:K59.00|ICD9:564.0|MESH:D003248|NCIT:C37930|HP:0002019|SCTID:14760008|ICD10:K59.0 owl:Class MONDO:0012164 biolink:NamedThing Meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. tmpte7i6ely_mondo_relaxed.owl Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|Meacham syndrome|Meacham Winn Culler syndrome|Meacham-Winn-Culler syndrome GARD:0003432|SCTID:722461004|UMLS:C1837026|Orphanet:3097|OMIM:608978|ICD10:Q87.8 owl:Class HGNC:12796 biolink:NamedThing WT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010375 biolink:NamedThing developmental and epileptic encephalopathy, 8 tmpte7i6ely_mondo_relaxed.owl hyperekplexia and epilepsy|DEE8|early infantile epileptic encephalopathy 8|EIEE8|epileptic encephalopathy, early infantile, 8|hyperekplexia-epilepsy syndrome|epileptic encephalopathy, early infantile, type 8 MESH:C564474|ICD10:G25.8|DOID:0080215|Orphanet:163985|OMIM:300607|UMLS:C1845102 owl:Class HGNC:14561 biolink:NamedThing ARHGEF9 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001065 biolink:NamedThing innate lymphoid cell A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. tmpte7i6ely_mondo_relaxed.owl 2017-01-30 20:20:48+00:00 cell owl:Class MONDO:0009285 biolink:NamedThing gamma-glutamyl transpeptidase deficiency Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine. tmpte7i6ely_mondo_relaxed.owl gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency|GGT1 deficiency|glutathionuria|inborn glutathione hydrolase activity disorder|GGT deficiency|GTG deficiency|inborn error of glutathione hydrolase activity|rare inborn error of glutathione hydrolase activity Orphanet:33573|MESH:C536836|UMLS:C0268524|ICD10:E72.8|ICD9:270.8|OMIM:231950|DOID:0111257|SCTID:78586005|GARD:0010099 owl:Class UBERON:0010253 biolink:NamedThing 1st arch maxillary mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008412 biolink:NamedThing intestinal schistosomiasis An intestinal infection that is caused by Schistosoma japonicum. tmpte7i6ely_mondo_relaxed.owl schistosomiasis japonica|Schistosoma mansoni infection, susceptibility/resistance to|Katayama fever|Schistosoma mansoni, intensity of infection by SCTID:750009|SCTID:268058007|MESH:D012554|SCTID:240796008|Orphanet:1247|ICD9:120.2|ICD9:120.1|ICD10:B65.2|SCTID:52179003|DOID:0050597|EFO:1001419|NCIT:C35001|NCIT:C35002|MESH:D012555|UMLS:C0276932|NCIT:C35364|ICD10:B65.1 owl:Class HP:0001880 biolink:NamedThing Eosinophilia Increased count of eosinophils in the blood. tmpte7i6ely_mondo_relaxed.owl High blood eosinophil count MSH:D004802|UMLS:C0014457 human_phenotype owl:Class UBERON:0001300 biolink:NamedThing scrotum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020312 biolink:NamedThing atypical chronic myeloid leukemia tmpte7i6ely_mondo_relaxed.owl atypical chronic myeloid leukemia BCR-ABL1 negative|subacute granulocytic leukemia|subacute myeloid leukemia|atypical CML|aCML 2022-05-01 DOID:0060597|Orphanet:98824|NCIT:C3519|MedDRA:10054651|ICD10:C92.2 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class CL:0000049 biolink:NamedThing common myeloid progenitor A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. tmpte7i6ely_mondo_relaxed.owl myeloid stem cell|CFU-S|common myeloid precursor|pluripotent stem cell (bone marrow)|multipotential myeloid stem cell|CFU-GEMM|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|CMP BTO:0004730 This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). cell owl:Class UBERON:0002374 biolink:NamedThing metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000915 biolink:NamedThing thoracic segment of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25507 biolink:NamedThing VAC14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012925 biolink:NamedThing Diamond-Blackfan anemia 5 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene. tmpte7i6ely_mondo_relaxed.owl DBA5|Diamond-Blackfan Anemia type 5|RPL35A Diamond-Blackfan anemia|Diamond-Blackfan anemia 5|Diamond-Blackfan anemia caused by mutation in RPL35A UMLS:C2675859|OMIM:612528|Orphanet:124|MESH:C567280 owl:Class HGNC:10345 biolink:NamedThing RPL35A tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q biolink:NamedThing 8q (Human) tmpte7i6ely_mondo_relaxed.owl 145138636 45200000 hg38 owl:Class UBERON:0002812 biolink:NamedThing left cerebral hemisphere tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000057 biolink:NamedThing urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000104 biolink:NamedThing life cycle An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. tmpte7i6ely_mondo_relaxed.owl life|lifespan|entire lifespan|entire life cycle owl:Class GO:0045806 biolink:NamedThing negative regulation of endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. tmpte7i6ely_mondo_relaxed.owl inhibition of endocytosis|downregulation of endocytosis|down-regulation of endocytosis|down regulation of endocytosis owl:Class GO:0006897 biolink:NamedThing endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpte7i6ely_mondo_relaxed.owl vesicle endocytosis|endocytic import into cell|plasma membrane invagination|nonselective vesicle endocytosis owl:Class PATO:0002304 biolink:NamedThing increased process quality A quality of a process that has a value that is increased compared to normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000461 biolink:NamedThing normal A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. tmpte7i6ely_mondo_relaxed.owl average owl:Class MONDO:0014828 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 3 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency-centromeric instability-facial anomalies syndrome type 3|immunodeficiency-centromeric instability-Facial anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome|ICF3|ICF syndrome 3 OMIM:616910|ICD10:D84.8|UMLS:C4310799|DOID:0090010 owl:Class HGNC:14628 biolink:NamedThing CDCA7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005212 biolink:NamedThing Leydig cell region of testis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000473 biolink:NamedThing testis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021418 biolink:NamedThing polyp of ethmoidal sinus A polyp that involves the ethmoid sinus. tmpte7i6ely_mondo_relaxed.owl polyp of ethmoid sinus|polyp of the ethmoid sinus|ethmoidal polyp|polyp of the ethmoidal sinus|ethmoid sinus polyp|ethmoidal sinus polyp NCIT:C3932|UMLS:C0264248|ICD9:471.8|SCTID:23966000 owl:Class UBERON:0002453 biolink:NamedThing ethmoid sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006289 biolink:NamedThing rib pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003089 biolink:NamedThing sclerotome tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042727 biolink:NamedThing sacrococcygeal teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. tmpte7i6ely_mondo_relaxed.owl pre-sacral teratoma|sacrococcygeal teratoma|presacral teratoma UMLS:C0559459|NCIT:C99055|Orphanet:494421|HP:0030736|GARD:0000319|SCTID:281561000 owl:Class UBERON:0003435 biolink:NamedThing pedal digit nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001466 biolink:NamedThing pedal digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020721 biolink:NamedThing X-linked sideroblastic anemia 1 tmpte7i6ely_mondo_relaxed.owl erythroid 5-aminolevulinate synthase deficiency|anemia, hereditary sideroblastic|sideroblastic anemia X-linked|anemia sex-linked hypochromic sideroblastic|X-linked sideroblastic anemia|SIDBA1|X chromosome-linked sideroblastic anemia|anemia, hypochromic|sideroblastic anemia, X-linked|anemia, sideroblastic, X-linked|XLSA|anemia hereditary sideroblastic|hereditary iron-loading Anemia|anemia, sideroblastic, 1|ANH1 DOID:0060063|ICD10:D64.0|GARD:0009456|MESH:C536761|OMIM:300751|SCTID:62677000|Orphanet:75563|UMLS:C0221018 owl:Class HGNC:397 biolink:NamedThing ALAS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015706 biolink:NamedThing mosaic trisomy 1 tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy type 1|trisomy 1 mosaicism|Mosaic trisomy chromosome 1 ICD10:Q92.1|UMLS:CN073987|Orphanet:1692 owl:Class GO:0007606 biolink:NamedThing sensory perception of chemical stimulus The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl chemosensory perception owl:Class CL:1000323 biolink:NamedThing pyloric gastric gland goblet cell A goblet cell that is part of the epithelium of pyloric gland. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of pyloric gland FMA:263061 cell owl:Class N34193164b7204f42a1134677ace962e5 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0011930 biolink:NamedThing preganglionic parasympathetic fiber tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004293 biolink:NamedThing parasympathetic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11075 biolink:NamedThing SLC9A3R1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009847 biolink:NamedThing prostate field tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009845 biolink:NamedThing urogenital sinus mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011584 biolink:NamedThing zeugopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700075 biolink:NamedThing congenital muscular dystrophy caused by variation in POMGNT2 Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene. tmpte7i6ely_mondo_relaxed.owl congenital muscular dystrophy caused by mutation in POMGNT2|congenital muscular dystrophy-POMGNT2 related http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:25902 biolink:NamedThing POMGNT2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030030 biolink:NamedThing cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpte7i6ely_mondo_relaxed.owl cell projection organisation|cell surface structure organization and biogenesis|cell projection organization and biogenesis owl:Class UBERON:0010703 biolink:NamedThing forelimb zeugopod skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019083 biolink:NamedThing Leigh syndrome with cardiomyopathy tmpte7i6ely_mondo_relaxed.owl Leigh disease with myopathy|cardiomyopathy with myopathy due to COX deficiency|cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency UMLS:CN205578|ICD10:G31.8|Orphanet:70474|OMIM:256000 owl:Class MONDO:0005645 biolink:NamedThing ancylostomiasis Infection by hookworms of the genus Ancylostoma. tmpte7i6ely_mondo_relaxed.owl hookworm infection|Ancylostoma duodenale infection|Ancylostoma infectious disease|Ancylostoma caused disease or disorder|Ancylostoma disease or disorder SCTID:63479002|UMLS:C0002831|ICD10:B76.1|EFO:0007145|ICD9:126.8|MESH:D000724|ICD10:B76.0|MedDRA:10020376|ICD10:B76.9|GARD:0009742|ICD9:126.9|Orphanet:78|DOID:12841|NCIT:C35805|ICD10:B76.8|MedDRA:10002255 owl:Class NCBITaxon:29169 biolink:NamedThing Ancylostoma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0012503 biolink:NamedThing serosa of fundus of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001201 biolink:NamedThing serosa of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002672 biolink:NamedThing retinal progenitor cell A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-08-16T02:38:01Z cell owl:Class MONDO:0004695 biolink:NamedThing liver lymphoma A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. tmpte7i6ely_mondo_relaxed.owl liver lymphoma|primary hepatic lymphoma|hepatic lymphoma|primary liver lymphoma|lymphoma of the liver|lymphoma of liver DOID:901|UMLS:C1112746|NCIT:C4949 owl:Class UBERON:0002107 biolink:NamedThing liver tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012735 biolink:NamedThing Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. tmpte7i6ely_mondo_relaxed.owl Cough|Coughing SNOMEDCT_US:263731006|MSH:D003371|SNOMEDCT_US:272039006|SNOMEDCT_US:49727002|UMLS:C0010200 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. peter 2014-03-23T03:19:50Z human_phenotype owl:Class MONDO:0007783 biolink:NamedThing malignant hyperthermia, susceptibility to, 1 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene. tmpte7i6ely_mondo_relaxed.owl malignant hyperthermia susceptibility type 1|King syndrome|MHS1|malignant hyperthermia of anesthesia caused by mutation in RYR1|King-Denborough syndrome, included|hyperpyrexia, malignant|King-Denborough syndrome|RYR1 malignant hyperthermia of anesthesia|malignant hyperthermia, susceptibility to, type 1|malignant hyperthermia, susceptibility to, 1|hyperthermia of anesthesia|hyperpyrexia, malignant;MH KING syndrome, included|MHS|susceptibility to malignant hyperthermia 1 Orphanet:99741|GARD:0003363|UMLS:C0024591|MESH:C535694|EFO:0009071|Orphanet:423|OMIM:145600|UMLS:CN031421 https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 owl:Class HGNC:10483 biolink:NamedThing RYR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009251 biolink:NamedThing fructose-1,6-bisphosphatase deficiency Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. tmpte7i6ely_mondo_relaxed.owl fructose 1,6 diphosphatase deficiency|fructose-1,6-diphosphatase deficiency|baker-Winegrad disease|fructose-1,6-bisphosphatase deficiency|FBP1D|fructose 1 phosphate aldolase deficiency OMIM:229700|ICD10:E74.1|UMLS:C0016756|GARD:0002400|Orphanet:348|DOID:5204|ICD10:E74.19|NCIT:C128119|SCTID:28183005 owl:Class HP:0001942 biolink:NamedThing Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. tmpte7i6ely_mondo_relaxed.owl UMLS:C0220981|SNOMEDCT_US:59455009|MSH:D000138 The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. HP:0004907|HP:0004895 human_phenotype owl:Class ENVO:02500000 biolink:NamedThing environmental system process A process in which includes the components of an environmental system as participants. tmpte7i6ely_mondo_relaxed.owl owl:Class N5c4753f5a1b34523803069b466923f31 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014786 biolink:NamedThing IgA nephropathy, susceptibility to, 3 Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. tmpte7i6ely_mondo_relaxed.owl IgA glomerulonephritis caused by mutation in SPRY2|IgA nephropathy, susceptibility to, 3; IGAN3|IgA nephropathy, susceptibility to, 3|IgA nephropathy, susceptibility to, type 3|IGAN3|SPRY2 IgA glomerulonephritis|susceptibility to IgA nephropathy 3 OMIM:616818 owl:Class HGNC:11270 biolink:NamedThing SPRY2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005992 biolink:NamedThing trichinosis A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling. tmpte7i6ely_mondo_relaxed.owl Trichinella spiralis infection|Trichinellosis|Trichinella caused disease or disorder|Trichinella infectious disease|Trichinella disease or disorder 2022-05-01 NCIT:C85199|ICD9:124|EFO:0007520|DOID:9784|ICD10:B75 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class NCBITaxon:6333 biolink:NamedThing Trichinella tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006757 biolink:NamedThing lateral lingual swelling tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001571 biolink:NamedThing genioglossus muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009471 biolink:NamedThing dorsum of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010534 biolink:NamedThing primitive mesonephric nephron tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000080 biolink:NamedThing mesonephros tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013729 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 3 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene. tmpte7i6ely_mondo_relaxed.owl pregnancy loss, recurrent, susceptibility to, type 3|ANXA5 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, 3|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|RPRGL3 OMIM:614391 owl:Class HGNC:543 biolink:NamedThing ANXA5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013240 biolink:NamedThing maturity-onset diabetes of the young type 10 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene. tmpte7i6ely_mondo_relaxed.owl maturity-onset diabetes of the young (disease) caused by mutation in INS|MODY10|maturity-onset diabetes of the young, type 10|INS maturity-onset diabetes of the young (disease) OMIM:613370|UMLS:C3150617|SCTID:609577006|DOID:0111108 owl:Class HGNC:6081 biolink:NamedThing INS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015282 biolink:NamedThing cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl Krasnow Qazi syndrome|familial dilated cardiomyopathy associated with cataracts and hip-spine disease|cardiomyopathy cataract hip spine disease|Krasnow-Qazi syndrome|Krasnow Qazi Yermakov syndrome GARD:0001102|Orphanet:1345|MESH:C537616|UMLS:C2931548|SCTID:720609003 https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease|https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0003816 biolink:NamedThing articular cartilage disorder A disease involving the articular cartilage of joint. tmpte7i6ely_mondo_relaxed.owl articular cartilage disorder of forearm|articular cartilage of joint disease or disorder|articular cartilage disorder involving multiple sites|articular cartilage disorder involving forearm|articular cartilage disorder involving shoulder region|disease or disorder of articular cartilage of joint|articular cartilage disorder of hand|articular cartilage disorder involving ankle and foot|articular cartilage of joint disease|disease of articular cartilage of joint|articular cartilage disorder of the pelvic region and thigh|articular cartilage disorder|disorder of articular cartilage|articular cartilage disorder of shoulder region|articular cartilage disorder involving pelvic region and thigh|articular cartilage disorder involving hand|articular cartilage disorder of ankle and/or foot|articular cartilage disorder of multiple sites|disorder of articular cartilage of joint|articular cartilage disorder of upper arm|articular cartilage disorder involving upper arm ICD9:718.02|ICD9:718.00|UMLS:C0158073|DOID:6227|SCTID:53417006|ICD9:718.0 owl:Class HGNC:21197 biolink:NamedThing FA2H tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011816 biolink:NamedThing lathosterolosis Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. tmpte7i6ely_mondo_relaxed.owl Sc5D deficiency|lathosterolosis|sterol C5-desaturase deficiency Orphanet:46059|UMLS:C1846421|SCTID:719257008|MESH:C537880|OMIM:607330|GARD:0009711|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis owl:Class HGNC:10547 biolink:NamedThing SC5D tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033045 biolink:NamedThing regulation of sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000819 biolink:NamedThing sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011120 biolink:NamedThing laryngeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001739 biolink:NamedThing laryngeal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006092 biolink:NamedThing appendix villous adenoma An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia. tmpte7i6ely_mondo_relaxed.owl appendix villous adenoma|villous adenoma of appendix|vermiform appendix villous adenoma|villous adenoma of the appendix UMLS:C1332329|EFO:1000093|NCIT:C5512 owl:Class UBERON:0001154 biolink:NamedThing vermiform appendix tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034728 biolink:NamedThing autonomic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002410 biolink:NamedThing autonomic nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014139 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type, 2 Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene. tmpte7i6ely_mondo_relaxed.owl EDSSPD2|Ehlers-Danlos syndrome, progeroid type, 2, formerly|B3GALT6 Ehlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome, progeroid type, 2|Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|EDSP2|Ehlers-Danlos syndrome, spondylodysplastic type, 2 UMLS:C3809210|Orphanet:75496|OMIM:615349 owl:Class HGNC:17978 biolink:NamedThing B3GALT6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013940 biolink:NamedThing primary ciliary dyskinesia 18 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in DNAAF5|ciliary dyskinesia, primary, 18, with or without situs inversus|primary ciliary dyskinesia type 18|CILD18|DNAAF5 primary ciliary dyskinesia|primary ciliary dyskinesia 18 with or without situs inversus|ciliary dyskinesia, primary, type 18|ciliary dyskinesia, primary, 18 DOID:0110604|ICD10:Q34.8|OMIM:614874|UMLS:C3543825 owl:Class HGNC:26013 biolink:NamedThing DNAAF5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001088 biolink:NamedThing urine tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000025 biolink:NamedThing egg cell A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization. tmpte7i6ely_mondo_relaxed.owl mature oocyte|ovum FBbt:00057012|BTO:0003801|MA:0000388|FMA:67343|BTO:0000369|CALOHA:TS-2191 cell owl:Class CL:0000023 biolink:NamedThing oocyte A female germ cell that has entered meiosis. tmpte7i6ely_mondo_relaxed.owl oogonium WBbt:0006797|FMA:18644|BTO:0000964|FBbt:00004886|CALOHA:TS-0711 cell owl:Class MONDO:0013781 biolink:NamedThing pseudohypoaldosteronism type 2D Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. tmpte7i6ely_mondo_relaxed.owl KLHL3 pseudohypoaldosteronism type 2|familial hyperkalemic hypertension|pseudohypoaldosteronism, type IID|pseudohypoaldosteronism, type 2D|pseudohypoaldosteronism type 2 caused by mutation in KLHL3|PHA2D OMIM:614495|Orphanet:757|ICD10:I15.1|Orphanet:300525|UMLS:C3469605 owl:Class HGNC:6354 biolink:NamedThing KLHL3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003728 biolink:NamedThing mediastinum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013673 biolink:NamedThing Wolfram-like syndrome Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. tmpte7i6ely_mondo_relaxed.owl Wolfram-like syndrome, autosomal dominant|WFSL|Wolfram-like syndrome|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation OMIM:614296|MESH:C565631|UMLS:C3280358|SCTID:734022008|Orphanet:411590|ICD10:E13.8|DOID:0080584|UMLS:C4518338|EFO:0009063 owl:Class HGNC:12762 biolink:NamedThing WFS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003663 biolink:NamedThing uterine ligament endometrioid adenocarcinoma A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis. tmpte7i6ely_mondo_relaxed.owl endometrioid adenocarcinoma of uterine ligament|uterine ligament endometrioid adenocarcinoma UMLS:C1519868|NCIT:C40138|DOID:5829 owl:Class UBERON:0036262 biolink:NamedThing uterine ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013503 biolink:NamedThing caudal vertebra cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012982 biolink:NamedThing episodic ataxia type 6 Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. tmpte7i6ely_mondo_relaxed.owl episodic ataxia type 6|SLC1A3 hereditary episodic ataxia|EA6|hereditary episodic ataxia caused by mutation in SLC1A3|episodic ataxia, type 6 DOID:0050994|Orphanet:209967|SCTID:718753002|OMIM:612656|MESH:C567207|UMLS:C2675211|ICD10:G11.8 owl:Class HGNC:10941 biolink:NamedThing SLC1A3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005375 biolink:NamedThing spinal cord ventral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002180 biolink:NamedThing ventral funiculus of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17781 biolink:NamedThing lumichrome A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution. tmpte7i6ely_mondo_relaxed.owl Lumichrome|lumichrome|LUMICHROME|7,8-Dimethylalloxazine|7,8-dimethylbenzo[g]pteridine-2,4(1H,3H)-dione owl:Class UBERON:0013526 biolink:NamedThing otocyst lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003051 biolink:NamedThing ear vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009744 biolink:NamedThing neuronal ceroid lipofuscinosis 1 A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpte7i6ely_mondo_relaxed.owl adult CLN (type of CLN1)|neuronal ceroid lipofuscinosis caused by mutation in PPT1|neuronal ceroid lipofuscinosis 1|Santavuori-Haltia disease|CLN1 disease|congenital NCL|neuronal ceroid lipofuscinosis 1 variable age of onset|ceroid lipofuscinosis neuronal 1|CLN1|CLN1 variable age at onset|ceroid storage disease|congenital neuronal ceroid lipofuscinosis|infantile CLN (type of CLN1)|PPT1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|classic late infantile CLN (type of CLN1)|neuronal ceroid lipofuscinosis, infantile|ceroid lipofuscinosis, neuronal, type 1|lipofuscin storage disease|ceroid lipofuscinosis, neuronal, 1|infantile neuronal ceroid lipofuscinosis|Santavuori disease|juvenile CLN (type of CLN1)|neuronal ceroid lipofuscinosis type 1 Orphanet:79262|OMIM:610127|ICD10:E75.4|GARD:0009447|UMLS:C0027877|GARD:0001219|OMIM:214200|Orphanet:228329|Orphanet:168491|OMIM:256730|DOID:0110721|Orphanet:79264|NCIT:C85861|SCTID:720830009|Orphanet:168486|Orphanet:79263 https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 owl:Class HGNC:9325 biolink:NamedThing PPT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001700 biolink:NamedThing Myocardial necrosis Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:251061000|UMLS:C1442837 human_phenotype owl:Class HGNC:4419 biolink:NamedThing GNRH1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002124 biolink:NamedThing medulla of thymus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008787 biolink:NamedThing microcytic anemia with liver iron overload Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. tmpte7i6ely_mondo_relaxed.owl AHMIO1|hypochromic microcytic anemia with iron overload|microcytic anemia and hepatic iron overload|anemia, hypochromic microcytic, with iron overload 1|anemia, hypochromic microcytic, with iron overload type 1 ICD10:D50.8|OMIM:206100|GARD:0012360|Orphanet:83642|SCTID:711161006 owl:Class UBERON:0010259 biolink:NamedThing 1st arch mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7744 biolink:NamedThing NEK1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043539 biolink:NamedThing protein serine/threonine kinase activator activity Binds to and increases the activity of a protein serine/threonine kinase. tmpte7i6ely_mondo_relaxed.owl protein ser/thr kinase activator activity owl:Class GO:0004674 biolink:NamedThing protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. tmpte7i6ely_mondo_relaxed.owl threonine-specific protein kinase activity|protein serine kinase activity|serine protein kinase activity|protein-serine kinase activity|protein kinase (phosphorylating) activity|serine kinase activity|serine(threonine) protein kinase activity|serine/threonine protein kinase activity|protein phosphokinase activity|protein serine-threonine kinase activity|serine-specific protein kinase activity owl:Class UBERON:0000978 biolink:NamedThing leg tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002298 biolink:NamedThing brainstem tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000955 biolink:NamedThing brain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000017 biolink:NamedThing exocrine pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32486 biolink:NamedThing L-phenylalaninate An optically active form of phenylalaninate having L-configuration. tmpte7i6ely_mondo_relaxed.owl L-phenylalaninate|(2S)-2-amino-3-phenylpropanoate|L-phenylalanine anion owl:Class CHEBI:75772 biolink:NamedThing Saccharomyces cerevisiae metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). tmpte7i6ely_mondo_relaxed.owl Saccharomyces cerevisiae secondary metabolites|Saccharomyces cerevisiae metabolites|baker's yeast metabolites|S. cerevisiae metabolite|S. cerevisiae secondary metabolites|baker's yeast metabolite|S. cerevisiae metabolites|S. cerevisiae secondary metabolite|baker's yeast secondary metabolite|baker's yeast secondary metabolites owl:Class UBERON:0001174 biolink:NamedThing common bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001064 biolink:NamedThing ventral pancreatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001016 biolink:NamedThing nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001158 biolink:NamedThing descending colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005362 biolink:NamedThing vagus X ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001759 biolink:NamedThing vagus nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060302 biolink:NamedThing negative regulation of cytokine activity Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005125 biolink:NamedThing cytokine activity The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells. tmpte7i6ely_mondo_relaxed.owl autocrine activity|paracrine activity owl:Class UBERON:0003607 biolink:NamedThing forelimb long bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002102 biolink:NamedThing forelimb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001224 biolink:NamedThing renal pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012253 biolink:NamedThing cervical squamo-columnar junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000002 biolink:NamedThing uterine cervix tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003620 biolink:NamedThing manual digit 1 phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001463 biolink:NamedThing manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011658 biolink:NamedThing autosomal recessive early-onset Parkinson disease 7 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. tmpte7i6ely_mondo_relaxed.owl PARK7|Parkinson disease 7, autosomal recessive early-onset|Parkinson disease caused by mutation in PARK7|autosomal recessive early-onset Parkinson's disease 7|autosomal recessive early-onset Parkinson disease type 7|PARK7 Parkinson disease|autosomal recessive early-onset Parkinson disease 7 DOID:0060370|MESH:C565238|UMLS:C1853445|OMIM:606324|Orphanet:2828 owl:Class HGNC:16369 biolink:NamedThing PARK7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001857 biolink:NamedThing Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly. tmpte7i6ely_mondo_relaxed.owl ICD9:023.3|UMLS:C0494040|ICD10:A23.3|SCTID:428174001|DOID:14019 owl:Class HP:0001824 biolink:NamedThing Weight loss Reduction of total body weight. tmpte7i6ely_mondo_relaxed.owl Loss of weight SNOMEDCT_US:262285001|UMLS:C1262477|SNOMEDCT_US:161832001|MSH:D015431|SNOMEDCT_US:89362005 human_phenotype owl:Class UBERON:0004812 biolink:NamedThing male prepuce epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr21q22.11-q22.12 biolink:NamedThing 21q22.11-q22.12 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class OBO:CHR_9606-chr21q biolink:NamedThing 21q (Human) tmpte7i6ely_mondo_relaxed.owl 46709983 12000000 hg38 owl:Class GO:1905636 biolink:NamedThing positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpte7i6ely_mondo_relaxed.owl up regulation of RNA polymerase II regulatory region sequence-specific DNA binding|upregulation of RNA polymerase II regulatory region sequence-specific DNA binding|activation of RNA polymerase II regulatory region sequence-specific DNA binding|up-regulation of RNA polymerase II regulatory region sequence-specific DNA binding owl:Class GO:0000977 biolink:NamedThing RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. tmpte7i6ely_mondo_relaxed.owl RNA polymerase II regulatory region DNA binding owl:Class GO:1904172 biolink:NamedThing positive regulation of bleb assembly Any process that activates or increases the frequency, rate or extent of bleb assembly. tmpte7i6ely_mondo_relaxed.owl positive regulation of cell blebbing|up-regulation of cell blebbing|activation of cell blebbing|up regulation of cell blebbing|activation of bleb assembly|up regulation of bleb assembly|upregulation of cell blebbing|upregulation of bleb assembly|up-regulation of bleb assembly owl:Class GO:0032060 biolink:NamedThing bleb assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. tmpte7i6ely_mondo_relaxed.owl cell blebbing|plasma membrane blebbing|membrane blebbing|plasma membrane bleb assembly|blebbing owl:Class MONDO:0014114 biolink:NamedThing cardiofaciocutaneous syndrome 4 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene. tmpte7i6ely_mondo_relaxed.owl cardiofaciocutaneous syndrome caused by mutation in MAP2K2|CFC4|cardiofaciocutaneous syndrome 4|cardiofaciocutaneous syndrome type 4|MAP2K2 cardiofaciocutaneous syndrome UMLS:C3809007|OMIM:615280|Orphanet:1340|DOID:0111463 owl:Class HGNC:6842 biolink:NamedThing MAP2K2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903579 biolink:NamedThing negative regulation of ATP metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process. tmpte7i6ely_mondo_relaxed.owl down-regulation of ATP metabolic process|down regulation of ATP metabolism|inhibition of ATP metabolism|negative regulation of ATP metabolism|downregulation of ATP metabolism|downregulation of ATP metabolic process|inhibition of ATP metabolic process|down regulation of ATP metabolic process|down-regulation of ATP metabolism owl:Class HGNC:6831 biolink:NamedThing MANBA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019902 biolink:NamedThing monosomy 13q34 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl Del(13)(q34)|monosomy type 13q34|distal deletion 13q34|subtelomeric deletion 13q34 SCTID:766716004|ICD10:Q93.5|Orphanet:96168 owl:Class OBO:CHR_9606-chr13q34 biolink:NamedThing 13q34 (Human) tmpte7i6ely_mondo_relaxed.owl 114364328 109600000 hg38 owl:Class MONDO:0012743 biolink:NamedThing Brugada syndrome 4 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene. tmpte7i6ely_mondo_relaxed.owl CACNB2 Brugada syndrome|Brugada syndrome caused by mutation in CACNB2|BRGDA4|Brugada syndrome 4|Brugada syndrome type 4 DOID:0110221|GARD:0010362|MESH:C567508|ICD10:I49.8|OMIM:611876|Orphanet:130|UMLS:C2678477 https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4 owl:Class HGNC:1402 biolink:NamedThing CACNB2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000804 biolink:NamedThing kidney outer medulla interstitial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001094 cell owl:Class ENVO:01001293 biolink:NamedThing bush area A vegetated area which has not been cleared or is sparsely settled, usually scrub-covered or forested tmpte7i6ely_mondo_relaxed.owl the bush owl:Class Ndebc4be7f08a4b7e819b273d34b60f9c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0005664 biolink:NamedThing 2nd arch endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003066 biolink:NamedThing pharyngeal arch 2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000739 biolink:NamedThing uvulitis Inflammation of the uvula. tmpte7i6ely_mondo_relaxed.owl palatine uvula inflammation|inflammation of palatine uvula|acute uvulitis ICD9:528.3|UMLS:C0042174|MedDRA:10051962|SCTID:300932000|NCIT:C128385|ICD10:K12.2|DOID:0060310 owl:Class UBERON:0001734 biolink:NamedThing palatine uvula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014454 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 2 Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene. tmpte7i6ely_mondo_relaxed.owl HKLLS2|Hennekam lymphangiectasia-lymphedema syndrome 2|Hennekam lymphangiectasia-lymphedema syndrome type 2|FAT4 Hennekam syndrome|Hennekam syndrome caused by mutation in FAT4 UMLS:C4014939|Orphanet:2136|OMIM:616006 owl:Class HGNC:23109 biolink:NamedThing FAT4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006626 biolink:NamedThing diabetic neuropathy A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. tmpte7i6ely_mondo_relaxed.owl EFO:1000783|MESH:D003929|UMLS:C0011882|DOID:9743|NCIT:C26748|ICD9:250.6|SCTID:230572002 owl:Class UBERON:0004463 biolink:NamedThing musculature of hindlimb stylopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000376 biolink:NamedThing hindlimb stylopod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013048 biolink:NamedThing hereditary spastic paraplegia 50 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 50, autosomal recessive|SPG50|AP4M1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 3, formerly|autosomal recessive spastic paraplegia 50|hereditary spastic paraplegia caused by mutation in AP4M1|spastic quadriplegic cerebral palsy 3|cerebral palsy, spastic quadriplegic, 3|hereditary spastic paraplegia type 50 UMLS:C2752008|DOID:0110802|MESH:C567858|Orphanet:280763|OMIM:612936 owl:Class HGNC:574 biolink:NamedThing AP4M1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012545 biolink:NamedThing neutral lipid storage myopathy tmpte7i6ely_mondo_relaxed.owl triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis|neutral lipid storage disease with myopathy|NLSDM|neutral lipid storage disease with myopathy without ichthyosis ICD10:E75.5|OMIM:610717|SCTID:699315005|Orphanet:98908|GARD:0010288 owl:Class HGNC:30802 biolink:NamedThing PNPLA2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013240 biolink:NamedThing future glans clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007280 biolink:NamedThing presumptive endocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005498 biolink:NamedThing primitive heart tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014134 biolink:NamedThing pulmonary hypertension, primary, 2 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. tmpte7i6ely_mondo_relaxed.owl pulmonary hypertension, primary, 2|pulmonary hypertension, primary, type 2|PPH2|SMAD9 primary pulmonary hypertension|primary pulmonary hypertension caused by mutation in SMAD9 Orphanet:422|OMIM:615342|UMLS:C3888002 owl:Class HGNC:6774 biolink:NamedThing SMAD9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002336 biolink:NamedThing corpus callosum tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:9347 biolink:NamedThing Eutheria tmpte7i6ely_mondo_relaxed.owl eutherian mammals|Placentalia|placental mammals|placentals GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008721 biolink:NamedThing medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. tmpte7i6ely_mondo_relaxed.owl Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|MCAD deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|ACADMD|medium chain acyl CoA dehydrogenase deficiency|MCADD|acyl-CoA dehydrogenase medium chain deficiency of|medium-chain acyl-Coenzyme A dehydrogenase deficiency|medium chain acyl-CoA dehydrogenase deficiency|medium-chain acyl-CoA dehydrogenase deficiency|MCAD|acyl-CoA dehydrogenase, medium-chain deficiency|Mcadh deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|ACADM deficiency SCTID:128596003|ICD10:E71.311|UMLS:C0220710|DOID:0080153|OMIM:201450|NCIT:C84538|Orphanet:42|MESH:C536038|ICD10:E71.3|GARD:0000540|ICD9:277.85 owl:Class HGNC:89 biolink:NamedThing ACADM tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002028 biolink:NamedThing hindbrain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021239 biolink:NamedThing urethra neoplasm A neoplasm (disease) that involves the urethra. tmpte7i6ely_mondo_relaxed.owl urethral neoplasms|urethral neoplasm|urethra tumor|neoplasm of the urethra|urethra tumors|tumor of the urethra|neoplasm of urethra|urethra neoplasm (disease)|neoplasms. urethra|tumors. urethra|urethral tumor|urethra neoplasms|tumor of urethra|urethral tumors NCIT:C3428|EFO:0003846 owl:Class UBERON:0011148 biolink:NamedThing submucosal gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003594 biolink:NamedThing pelvis connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002355 biolink:NamedThing pelvic region of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25695 biolink:NamedThing CARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001672 biolink:NamedThing decreased distribution A distribution which is relatively low. tmpte7i6ely_mondo_relaxed.owl low distribution owl:Class MONDO:0021127 biolink:NamedThing has a syndromic presentation An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021152 biolink:NamedThing inherited A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. tmpte7i6ely_mondo_relaxed.owl familial|inherited genetic|hereditary|genetic|constitutitional genetic EFO:0004420 owl:Class MONDO:0033304 biolink:NamedThing nonsyndromic deafness, Y-linked tmpte7i6ely_mondo_relaxed.owl OMIMPS:400043 owl:Class HP:0001450 biolink:NamedThing Y-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. tmpte7i6ely_mondo_relaxed.owl Y-linked MSH:D050173|UMLS:C0814045 human_phenotype owl:Class UBERON:0015130 biolink:NamedThing connective tissue of prostate gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002367 biolink:NamedThing prostate gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013791 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal recessive tmpte7i6ely_mondo_relaxed.owl THPH6|thrombophilia due to protein S deficiency, autosomal recessive|thrombophilia due to PROTEIN S deficiency, autosomal recessive Orphanet:743|UMLS:C3281092|OMIM:614514 owl:Class HGNC:9456 biolink:NamedThing PROS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001373 biolink:NamedThing Joint dislocation Displacement or malalignment of joints. tmpte7i6ely_mondo_relaxed.owl Recurrent joint dislocations|Joint dislocation|Joint dislocations MSH:D004204|SNOMEDCT_US:87642003|UMLS:C0012691|SNOMEDCT_US:108367008 Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. HP:0005837|HP:0002772 human_phenotype owl:Class MONDO:0014675 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 104 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2|autosomal recessive deafness 104|autosomal recessive nonsyndromic deafness type 104|autosomal recessive nonsyndromic deafness 104|deafness, autosomal recessive type 104|RIPOR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 104|DFNB104 DOID:0110465|UMLS:C4225298|ICD10:H90.3|OMIM:616515 owl:Class HGNC:13872 biolink:NamedThing RIPOR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003467 biolink:NamedThing mediastinum synovial sarcoma A synovial sarcoma arising from the mediastinum. tmpte7i6ely_mondo_relaxed.owl synovial sarcoma of the mediastinum|synovial sarcoma of mediastinum|mediastinum synovial sarcoma (disease)|mediastinal synovial sarcoma DOID:5488|NCIT:C6618|UMLS:C1334681 owl:Class ENVO:09000017 biolink:NamedThing concentration of nitrogen atom in soil The concentration of a nitrogen atom when measured in soil. tmpte7i6ely_mondo_relaxed.owl soil nitrogen atom concentration owl:Class Na7c681fef1804bba957637179a880ed1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0045190 biolink:NamedThing isotype switching The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. tmpte7i6ely_mondo_relaxed.owl class switching|isotype switch recombination|class switch recombination owl:Class HGNC:19100 biolink:NamedThing IL23R tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002470 biolink:NamedThing autopod region tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045839 biolink:NamedThing negative regulation of mitotic nuclear division Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. tmpte7i6ely_mondo_relaxed.owl inhibition of mitosis|downregulation of mitosis|down regulation of mitosis|negative regulation of mitosis|down-regulation of mitosis owl:Class GO:0140014 biolink:NamedThing mitotic nuclear division A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. tmpte7i6ely_mondo_relaxed.owl mitosis owl:Class UBERON:0001768 biolink:NamedThing uvea tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001776 biolink:NamedThing optic choroid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009708 biolink:NamedThing dorsal pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003923 biolink:NamedThing dorsal pancreatic bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009815 biolink:NamedThing autosomal recessive osteopetrosis 1 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene. tmpte7i6ely_mondo_relaxed.owl osteopetrosis, autosomal recessive type 1|marble bones autosomal recessive|TCIRG1 autosomal recessive osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|osteopetrosis, infantile malignant 1|autosomal recessive osteopetrosis 1|osteopetrosis infantile malignant 1|autosomal recessive osteopetrosis type 1|osteopetrosis, autosomal recessive 1|OPTB1|autosomal recessive Albers-Schonberg disease|Albers-Schonberg disease, autosomal recessive|autosomal recessive osteopetrosis caused by mutation in TCIRG1|infantile malignant osteopetrosis 1|TCIRG1 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 1|marble bones, autosomal recessive GARD:0002579|Orphanet:667|OMIM:259700|DOID:0110942|MESH:C564915 https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 owl:Class HGNC:11647 biolink:NamedThing TCIRG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005215 biolink:NamedThing vulvar carcinoma A carcinoma that arises from epithelial cells of the mammalian vulva tmpte7i6ely_mondo_relaxed.owl vulvar carcinoma|cancer of vulva|carcinoma of vulva|carcinoma of mammalian vulva|vulvar cancer|cancer of the vulva|vulva carcinoma|vulva cancer|mammalian vulva carcinoma|carcinoma of the vulva SCTID:447882007|MESH:D014846|DOID:1245|NCIT:C4866|EFO:0002921|UMLS:C0677055|Orphanet:494418|DOID:1294 owl:Class UBERON:0000997 biolink:NamedThing mammalian vulva tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010511 biolink:NamedThing vas deferens, congenital bilateral aplasia of, X-linked tmpte7i6ely_mondo_relaxed.owl vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked|CBAVDX UMLS:C4310815|OMIM:300985 owl:Class HGNC:4516 biolink:NamedThing ADGRG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009275 biolink:NamedThing neonatal hemochromatosis Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 tmpte7i6ely_mondo_relaxed.owl neonatal Hepatitis|giant cell Hepatitis, formerly|alloimmune Hepatitis, congenital|idiopathic neonatal hemochromatosis|neonatal Hepatitis, formerly|hemochromatosis neonatal|giant cell Hepatitis|neonatal hepatitis (formerly)|hemochromatosis, neonatal|Nhc|giant cell Hepatitis (formerly)|Nh Orphanet:446|ICD10:E83.1|MESH:C536394|UMLS:C0268059|GARD:0007172|NCIT:C129980|OMIM:231100 https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis owl:Class N6a5f214c278043368296bb96fffbe527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0035932 biolink:NamedThing aldosterone secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003216 biolink:NamedThing hard palate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002120 biolink:NamedThing pronephros tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005721 biolink:NamedThing pronephric mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000486 biolink:NamedThing Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. tmpte7i6ely_mondo_relaxed.owl Cross-eyed|Squint|Squint eyes MSH:D013285|SNOMEDCT_US:128602000|SNOMEDCT_US:22066006|UMLS:C0038379 HP:0000487 human_phenotype owl:Class MONDO:0000685 biolink:NamedThing visual agnosia An inability to recognize or interpret objects by sight. tmpte7i6ely_mondo_relaxed.owl visual agnosia|visual agnosia (disease)|visuoperceptual agnosia visual agnosia (disease) DOID:0060155|HP:0030222|SCTID:25762009|NCIT:C35276 owl:Class MONDO:0017009 biolink:NamedThing partial duplication of the short arm of chromosome X tmpte7i6ely_mondo_relaxed.owl partial duplication of the short arm of chromosome type X|partial trisomy of the short arm of chromosome X|partial duplication of chromosome Xp|partial trisomy of chromosome Xp GARD:0012421|ICD10:Q99.8|Orphanet:263775 owl:Class OBO:CHR_9606-chrXp biolink:NamedThing Xp (Human) tmpte7i6ely_mondo_relaxed.owl 61000000 0 hg38 owl:Class MONDO:0012147 biolink:NamedThing coronary heart disease, susceptibility to, 5 Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene. tmpte7i6ely_mondo_relaxed.owl coronary artery disease caused by mutation in KALRN|Chds5|coronary heart disease, susceptibility to, type 5|KALRN coronary artery disease|coronary heart disease, susceptibility to, 5|coronary artery disease, early-onset|susceptibility to coronary heart disease 5 OMIM:608901 owl:Class HGNC:4814 biolink:NamedThing KALRN tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1q4 biolink:NamedThing 1q4 (Human) tmpte7i6ely_mondo_relaxed.owl 248956422 214400000 hg38 owl:Class CHEBI:18186 biolink:NamedThing tyrosine An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. tmpte7i6ely_mondo_relaxed.owl Tyrosine|2-Amino-3-(p-hydroxyphenyl)propionic acid|3-(p-Hydroxyphenyl)alanine|Tyr|2-amino-3-(4-hydroxyphenyl)propanoic acid|tyrosine|tirosina|Tyrosin|Y owl:Class UBERON:0010062 biolink:NamedThing pharyngotympanic tube epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002393 biolink:NamedThing pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014855 biolink:NamedThing intellectual disability, autosomal dominant 42 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant type 42|autosomal dominant intellectual disability 42|intellectual disability, autosomal dominant type 42|autosomal dominant mental retardation 42|intellectual disability, autosomal dominant 42|Gnb1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 42|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|MRD42|autosomal dominant non-syndromic intellectual disability 42|GNB1 autosomal dominant non-syndromic intellectual disability DOID:0070072|OMIM:616973|UMLS:C4310774 Editor note: check status as syndromic owl:Class HGNC:4396 biolink:NamedThing GNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1744 biolink:NamedThing CDC6 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32784 biolink:NamedThing tyrosinate(1-) An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. tmpte7i6ely_mondo_relaxed.owl 2-amino-3-(4-hydroxyphenyl)propanoate|hydrogen tyrosinate|tyrosine anion|tyrosinate(1-) owl:Class OBO:CHR_9606-chr15q13 biolink:NamedThing 15q13 (Human) tmpte7i6ely_mondo_relaxed.owl 33400000 27800000 hg38 owl:Class UBERON:0003603 biolink:NamedThing lower respiratory tract cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001558 biolink:NamedThing lower respiratory tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012969 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 5 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene. tmpte7i6ely_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, 5|retinopathy, diabetic, susceptibility to|MVCD5|microvascular complications of diabetes, susceptibility caused by mutation in PON1|microvascular complications of diabetes, susceptibility to, type 5|PON1 microvascular complications of diabetes, susceptibility OMIM:612633 owl:Class UBERON:0005021 biolink:NamedThing mucosa of sphenoidal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001724 biolink:NamedThing sphenoidal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009154 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 5 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene. tmpte7i6ely_mondo_relaxed.owl congenital nongoitrous hypothyroidism 5|CHNG5|congenital nongoitrous hypothryoidism 5|NKX2-5 hypothyroidism, congenital, nongoitrous|hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5|hypothyroidism, congenital, nongoitrous, type 5|hypothyroidism, congenital, nongoitrous, 5 Orphanet:95720|MESH:C567123|Orphanet:95713|UMLS:C2673630|ICD10:E03.1|DOID:0070125|Orphanet:95712|Orphanet:90673|OMIM:225250 owl:Class HGNC:2488 biolink:NamedThing NKX2-5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410008 biolink:NamedThing venule of anorectum tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp11 biolink:NamedThing Xp11 (Human) tmpte7i6ely_mondo_relaxed.owl 61000000 37800000 hg38 owl:Class MONDO:0550003 biolink:NamedThing SEC61B-related polycystic liver disease Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene. tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1882 owl:Class HGNC:16993 biolink:NamedThing SEC61B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016223 biolink:NamedThing infantile hemangioma of rare localization tmpte7i6ely_mondo_relaxed.owl UMLS:C3839613|UMLS:CN226884|SCTID:703270004|Orphanet:210589 Editor note: consider alternate naming owl:Class MONDO:0034204 biolink:NamedThing syndromic congenital sodium diarrhea tmpte7i6ely_mondo_relaxed.owl Orphanet:563708 owl:Class GO:0090394 biolink:NamedThing negative regulation of excitatory postsynaptic potential Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpte7i6ely_mondo_relaxed.owl negative regulation of EPSP|reduction of excitatory postsynaptic membrane potential|negative regulation of excitatory post-synaptic membrane potential owl:Class GO:0060079 biolink:NamedThing excitatory postsynaptic potential A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpte7i6ely_mondo_relaxed.owl regulation of EPSP|regulation of excitatory post-synaptic membrane potential owl:Class OBO:CHR_9606-chr17q23.1-q23.2 biolink:NamedThing 17q23.1-q23.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0054581 biolink:NamedThing Townes-Brocks syndrome 1 tmpte7i6ely_mondo_relaxed.owl Townes-Brocks-branchiootorenal-like syndrome|rear syndrome|renal-ear-anal-radial syndrome|anus, imperforate, with hand, Foot, and Ear anomalies|deafness, sensorineural, with imperforate anus and thumb anomalies|TBS1|Townes-Brocks syndrome 1 OMIM:107480 owl:Class HGNC:10524 biolink:NamedThing SALL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014297 biolink:NamedThing Joubert syndrome 22 Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene. tmpte7i6ely_mondo_relaxed.owl JBTS22|PDE6D Joubert syndrome|Joubert syndrome 22|Joubert syndrome type 22|Joubert syndrome caused by mutation in PDE6D OMIM:615665|UMLS:C3810278|DOID:0110991|Orphanet:2754 owl:Class HGNC:8788 biolink:NamedThing PDE6D tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:29195 biolink:NamedThing cyanate tmpte7i6ely_mondo_relaxed.owl [C(N)O](-)|Zyanat|cyanate ion|Cyanat|OCN(-)|nitridooxidocarbonate(1-)|cyanate owl:Class MONDO:0021222 biolink:NamedThing lacrimal gland neoplasm A neoplasm (disease) that involves the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl tumor of lacrimal gland|lacrimal gland neoplasm (disease)|lacrimal gland tumor|neoplasm of the lacrimal gland|tumor of the lacrimal gland|neoplasm of lacrimal gland NCIT:C4360 owl:Class UBERON:0004008 biolink:NamedThing cerebellar plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012627 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 13 An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. tmpte7i6ely_mondo_relaxed.owl juvenile myoclonic epilepsy caused by mutation in GABRA1|epilepsy, idiopathic generalized, susceptibility to, type 13|epilepsy, childhood absence, susceptibility to, 4|susceptibility to idiopathic generalized epilepsy 13|epilepsy, idiopathic generalized, susceptibility to, 13|EIG13|epilepsy, juvenile myoclonic, susceptibility to, 5|GABRA1 juvenile myoclonic epilepsy Orphanet:307|Orphanet:64280|OMIM:611136|DOID:0111314|MESH:C567002 owl:Class MONDO:0009696 biolink:NamedThing juvenile myoclonic epilepsy Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). tmpte7i6ely_mondo_relaxed.owl Janz syndrome|juvenile myoclonus epilepsy|myoclonic epilepsy, juvenile|epilepsy, myoclonic juvenile|JME|myoclonic epilepsy, juvenile, 1|EJM|myoclonic epilepsy, juvenile, susceptibility to, 1|petit mal, impulsive EFO:0006572|OMIM:607628|NCIT:C84796|SCTID:6204001|OMIM:607682|OMIM:611136|DOID:4890|OMIM:613060|OMIM:604827|OMIM:254770|ICD10:G40.3|OMIMPS:254770|MESH:D020190|GARD:0006808|MedDRA:10071082|OMIM:614280|ICD9:345.10|OMIM:611364|OMIM:608816|UMLS:C0270853|Orphanet:307 https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy owl:Class UBERON:0001168 biolink:NamedThing wall of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004864 biolink:NamedThing vasculature of retina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000966 biolink:NamedThing retina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008224 biolink:NamedThing hyperkalemic periodic paralysis Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. tmpte7i6ely_mondo_relaxed.owl sodium channel muscle disease|familial hyperPP|Gamstorp episodic adynamy|primary hyperPP|familial hyperkalemic periodic paralysis|hyperkalemic PP|hyperKPP|HYPP|adynamia episodica hereditaria with or without myotonia|hyperkalemic periodic paralysis|normokalemic periodic paralysis, potassium-sensitive|familial hyperkalemic periodic paralysis (disorder) [ambiguous]|Gamstorp disease|hyperPP|adynamia episodica hereditaria|primary hyperkalemic periodic paralysis NCIT:C123429|Orphanet:682|DOID:14451|MESH:D020513|OMIM:170500|UMLS:CN074266|SCTID:304737009|UMLS:C0238357|GARD:0000195|ICD10:G72.3 owl:Class HP:0002153 biolink:NamedThing Hyperkalemia An abnormally increased potassium concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Elevated serum potassium levels SNOMEDCT_US:14140009|MSH:D006947|SNOMEDCT_US:238142003|SNOMEDCT_US:166689004|UMLS:C0020461 human_phenotype owl:Class UBERON:0004679 biolink:NamedThing dentate gyrus molecular layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006134 biolink:NamedThing nerve fiber tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013359 biolink:NamedThing familial hyperaldosteronism type III Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. tmpte7i6ely_mondo_relaxed.owl familial hyperaldosteronism type 3|hyperaldosteronism, familial, type III|FH-III|FH3|hyperaldosteronism, familial, type 3|FH III|FH 3|HALD3 ICD10:E26.0|SCTID:703234002|Orphanet:251274|GARD:0012362|UMLS:C3838758|OMIM:613677|UMLS:C3150933 owl:Class HGNC:6266 biolink:NamedThing KCNJ5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001262 biolink:NamedThing wall of intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005082 biolink:NamedThing prostate adenocarcinoma A carcinoma that arises from glandular epithelial cells of the prostate gland tmpte7i6ely_mondo_relaxed.owl prostate adenocarcinoma|prad|prostate gland adenocarcinoma|adenocarcinoma of the prostate|adenocarcinoma of prostate ONCOTREE:PRAD|SCTID:399490008|UMLS:C0007112|NCIT:C2919|DOID:2526|EFO:0000673 owl:Class UBERON:0004854 biolink:NamedThing gastrointestinal system mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq22.3 biolink:NamedThing Xq22.3 (Human) tmpte7i6ely_mondo_relaxed.owl 109400000 104500000 hg38 owl:Class OBO:CHR_9606-chrXq22 biolink:NamedThing Xq22 (Human) tmpte7i6ely_mondo_relaxed.owl 109400000 99100000 hg38 owl:Class UBERON:0004265 biolink:NamedThing outflow tract myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004145 biolink:NamedThing outflow tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013768 biolink:NamedThing arterial calcification, generalized, of infancy, 2 Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene. tmpte7i6ely_mondo_relaxed.owl arterial calcification, generalized, of infancy, 2|arterial calcification, generalized, of infancy, type 2|arterial calcification of infancy caused by mutation in ABCC6|ABCC6 arterial calcification of infancy|GACI2 OMIM:614473|UMLS:C3276161|Orphanet:51608 owl:Class HGNC:57 biolink:NamedThing ABCC6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903380 biolink:NamedThing positive regulation of mitotic chromosome condensation Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. tmpte7i6ely_mondo_relaxed.owl up-regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation|up regulation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation owl:Class GO:0007076 biolink:NamedThing mitotic chromosome condensation The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008607 biolink:NamedThing phosphorylase kinase regulator activity Modulation of the activity of the enzyme phosphorylase kinase. tmpte7i6ely_mondo_relaxed.owl phosphorylase kinase, intrinsic regulator activity owl:Class GO:0004689 biolink:NamedThing phosphorylase kinase activity Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. tmpte7i6ely_mondo_relaxed.owl STK17|dephosphophosphorylase kinase activity|phosphorylase kinase, intrinsic catalyst activity|phosphorylase B kinase activity|phosphorylase kinase (phosphorylating) activity|PHK|glycogen phosphorylase kinase activity|ATP:phosphorylase-b phosphotransferase activity owl:Class CL:1000398 biolink:NamedThing endothelial cell of hepatic sinusoid An endothelial cell that is part of the hepatic sinusoid. These cells possess flattened areas containing perforations about 0.1 micrometers in diameter, known as fenestrae. The fenestrae are arranged in groups known as sieve plates. tmpte7i6ely_mondo_relaxed.owl endotheliocyte of hepatic sinusoid|LSEC|liver sinusoidal endothelial cell FMA:62911|BTO:000125 cell owl:Class UBERON:0001281 biolink:NamedThing hepatic sinusoid tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q2 biolink:NamedThing 9q2 (Human) tmpte7i6ely_mondo_relaxed.owl 99800000 65000000 hg38 owl:Class MONDO:0001992 biolink:NamedThing rete testis adenocarcinoma A carcinoma that arises from glandular epithelial cells of the rete testis tmpte7i6ely_mondo_relaxed.owl rete testis adenocarcinoma|adenocarcinoma of the rete testis|adenocarcinoma of rete testis|carcinoma, rete testis, malignant DOID:14544|NCIT:C8955|UMLS:C0863024 owl:Class MONDO:0018585 biolink:NamedThing pediatric arterial ischemic stroke tmpte7i6ely_mondo_relaxed.owl pediatric AIS|childhood arterial ischemic stroke|childhood AIS Orphanet:439175|ICD10:I63.5 owl:Class MONDO:0013845 biolink:NamedThing auriculocondylar syndrome 2 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene. tmpte7i6ely_mondo_relaxed.owl auriculocondylar syndrome caused by mutation in PLCB4|PLCB4 auriculocondylar syndrome|Auriculocondylar syndrome type 2|AURICULOCONDYLAR syndrome 2|ARCND2|Auriculocondylar syndrome 2 Orphanet:137888|OMIM:614669|UMLS:C3553404 owl:Class HGNC:9059 biolink:NamedThing PLCB4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007499 biolink:NamedThing ectoderm and mesoderm interaction A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm. tmpte7i6ely_mondo_relaxed.owl ectoderm/mesoderm interaction owl:Class GO:0007498 biolink:NamedThing mesoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000097 biolink:NamedThing mast cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. tmpte7i6ely_mondo_relaxed.owl labrocyte|mastocyte|tissue basophil|histaminocyte BTO:0000830|CALOHA:TS-0603|FMA:66784 Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. cell owl:Class GO:0002349 biolink:NamedThing histamine production involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl histamine production involved in acute inflammatory response owl:Class UBERON:0000006 biolink:NamedThing islet of Langerhans tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010948 biolink:NamedThing cleidooccipital muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001105 biolink:NamedThing clavicle bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000474 biolink:NamedThing female reproductive system tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000829 biolink:NamedThing Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. tmpte7i6ely_mondo_relaxed.owl Low parathyroid hormone|Decreased parathyroid hormone secretion SNOMEDCT_US:36976004|UMLS:C0020626|MSH:D007011 HP:0008292|HP:0000856 human_phenotype owl:Class UBERON:0012330 biolink:NamedThing nasal-associated lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001728 biolink:NamedThing nasopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005989 biolink:NamedThing atrioventricular septum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043227 biolink:NamedThing membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl membrane-enclosed organelle owl:Class CL:0000706 biolink:NamedThing choroid plexus epithelial cell Specialized ependymal cell that produces the cerebrospinal fluid from the blood and secretes it into the lumen of the brain and spinal chord. tmpte7i6ely_mondo_relaxed.owl epithelial cell of choroid plexus FMA:70549 CL:1000430 cell owl:Class NCBITaxon:63417 biolink:NamedThing Trichophyton verrucosum tmpte7i6ely_mondo_relaxed.owl Ectotrichophyton verrucosum|Favotrichophyton verrucosum GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011437 biolink:NamedThing microcephaly 4, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MCPH4|microcephaly 4, primary, autosomal recessive OMIM:604321|DOID:0070291|MESH:C565792|UMLS:C1858516 owl:Class HGNC:24054 biolink:NamedThing KNL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035237 biolink:NamedThing branch of internal carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000657 biolink:NamedThing Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. tmpte7i6ely_mondo_relaxed.owl Defective or absent horizontal voluntary eye movements|Ocular motor apraxia UMLS:C4020886|SNOMEDCT_US:193662007|UMLS:C3489733|MSH:C537423 Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. HP:0007764|HP:0000628 human_phenotype owl:Class MONDO:0000238 biolink:NamedThing pestis minor A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis. tmpte7i6ely_mondo_relaxed.owl larval plague|abortive plague|ambulatory plague|pestis minor UMLS:C0275757|MEDGEN:546803|SCTID:186287003|ICD9:020.8 Editor note: consider obsoleting owl:Class HP:0012825 biolink:NamedThing Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. tmpte7i6ely_mondo_relaxed.owl Mild UMLS:C1513302|SNOMEDCT_US:446411000124101 PATO:0000394, mild. peter 2014-06-06T06:41:33Z human_phenotype owl:Class MONDO:0014329 biolink:NamedThing atrial standstill 2 Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene. tmpte7i6ely_mondo_relaxed.owl NPPA atrial standstill|atrial standstill type 2|atrial dilation and standstill|cardiomyopathy, atrial dilated, with atrial standstill|ATRST2|atrial standstill caused by mutation in NPPA|atrial standstill 2 Orphanet:1344|UMLS:C3810401|OMIM:615745 owl:Class HGNC:7939 biolink:NamedThing NPPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004959 biolink:NamedThing plasma cell neoplasm A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. tmpte7i6ely_mondo_relaxed.owl plasma cell neoplasm|plasma cell dyscrasia|plasmacytic tumour|plasma cell tumor|plasma cell tumor, malignant|plasma cell tumour|plasmacytic neoplasm|plasma cell disorder|plasmacytic tumor MESH:D054219|EFO:0000200|MESH:D010265|UMLS:C1959632|DOID:6536|ICD9:238.6|Orphanet:98282|NCIT:C4665|SCTID:415111003 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 owl:Class CHEBI:35524 biolink:NamedThing sympathomimetic agent A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters. tmpte7i6ely_mondo_relaxed.owl sympathomimetics|sympathomimetic owl:Class MONDO:0005008 biolink:NamedThing colorectal adenocarcinoma The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl large bowel adenocarcinoma|colorectum adenocarcinoma|adenocarcinoma of the large intestine|adenocarcinoma of large intestine|adenocarcinoma of large bowel|adenocarcinoma of the large bowel|large intestine adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|colorectal adenocarcinoma DOID:0050913|EFO:0000365|SCTID:269533000|NCIT:C5105|UMLS:C0699790|DOID:0050861|SCTID:408645001|ONCOTREE:COADREAD|UMLS:C1319315 Editor note: we follow NCIT in treating colorectal and large intestine as equivalent MONDO:0000528 owl:Class UBERON:0012652 biolink:NamedThing colorectum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004196 biolink:NamedThing rectal sarcomatoid carcinoma A biphasic rectal carcinoma with a spindle cell, sarcomatoid component. tmpte7i6ely_mondo_relaxed.owl rectum sarcomatoid carcinoma|rectal sarcomatoid cancer|rectal spindle cell carcinoma|rectal sarcomatoid carcinoma|sarcomatoid carcinoma of rectum|sarcomatoid carcinoma of the rectum UMLS:C1335689|NCIT:C5556|DOID:7356 owl:Class UBERON:0001052 biolink:NamedThing rectum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013478 biolink:NamedThing cecal tonsil tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001153 biolink:NamedThing caecum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002853 biolink:NamedThing rectum rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma of rectum|rectal rhabdomyosarcoma|rhabdomyosarcoma (disease) of rectum|rectum rhabdomyosarcoma (disease)|rhabdomyosarcoma of the rectum NCIT:C5627|DOID:4053|UMLS:C1335687 owl:Class UBERON:4000115 biolink:NamedThing mineralized bone tissue tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q biolink:NamedThing 14q (Human) tmpte7i6ely_mondo_relaxed.owl 107043718 17200000 hg38 owl:Class UBERON:0009877 biolink:NamedThing metapodium region tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050765 biolink:NamedThing negative regulation of phagocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. tmpte7i6ely_mondo_relaxed.owl down-regulation of phagocytosis|inhibition of phagocytosis|down regulation of phagocytosis|downregulation of phagocytosis owl:Class GO:0006909 biolink:NamedThing phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009652 biolink:NamedThing mucolipidosis type III gamma Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. tmpte7i6ely_mondo_relaxed.owl ML III gamma|mucolipidosis 3 gamma|mucolipidosis III, Iranian variant form|ML 3 gamma|mucolipidosis type 3 gamma|ML 3C|mucolipidosis 3C|mucolipidosis III, complementation group C|mucolipidosis III, variant form|mucolipidosis III gamma UMLS:C1854896|OMIM:252605|ICD10:E77.0|Orphanet:577|Orphanet:423470|NCIT:C129978|MESH:C565367 owl:Class HGNC:23026 biolink:NamedThing GNPTG tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:632 biolink:NamedThing Yersinia pestis tmpte7i6ely_mondo_relaxed.owl Yersinia pseudotuberculosis subsp. pestis|Pestisella pestis|Bacterium pestis|Pasteurella pestis|Bacillus pestis GC_ID:11|PMID:15084509 ncbi_taxonomy owl:Class MONDO:0023164 biolink:NamedThing viral pericarditis Pericarditis that is caused by an infection with a viral agent. tmpte7i6ely_mondo_relaxed.owl Viral pericarditis|viral pericarditis|Viral Pericarditis NCIT:C128405|UMLS:C0276139|SCTID:70189005 owl:Class MONDO:0010305 biolink:NamedThing creatine transporter deficiency X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. tmpte7i6ely_mondo_relaxed.owl X-linked creatine transporter deficiency|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|cerebral creatine deficiency syndrome 1|intellectual disability, X-linked, with creatine transport deficiency|X-linked creatine deficiency|mental retardation, X-linked with seizures, short stature and midface hypoplasia|X-linked creatine deficiency syndrome|SLC6A8 deficiency|intellectual disability, X-linked, with creatine Transport deficiency|mental retardation, X-linked, with creatine Transport deficiency|intellectual disability, X-linked with seizures, short stature and midface hypoplasia|creatine deficiency, X-linked|creatine deficiency syndrome, X-linked|creatine transporter deficiency|creatine transporter defect|mental retardation, X-linked, with creatine transport deficiency|cerebral creatine deficiency syndrome type 1|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|CCDS1 SCTID:698290008|OMIM:300352|GARD:0001608|MESH:C535598|ICD9:758.81|DOID:0050800|Orphanet:52503|NCIT:C125665|ICD10:E72.8 owl:Class HGNC:11055 biolink:NamedThing SLC6A8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012463 biolink:NamedThing retinitis pigmentosa 35 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene. tmpte7i6ely_mondo_relaxed.owl RP35|RP 35|retinitis pigmentosa 35|SEMA4A retinitis pigmentosa|retinitis pigmentosa type 35|retinitis pigmentosa caused by mutation in SEMA4A OMIM:610282|ICD10:H35.5|MESH:C565206|Orphanet:791|UMLS:C1853214|DOID:0110357|GARD:0010402 https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35 owl:Class HGNC:10729 biolink:NamedThing SEMA4A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012335 biolink:NamedThing obesity due to pro-opiomelanocortin deficiency Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. tmpte7i6ely_mondo_relaxed.owl POMC deficiency|obesity, early-onset, with adrenal insufficiency and RED hair|obesity, early-onset, with adrenal insufficiency and Red hair|obesity, early-onset, adrenal insufficiency, and Red hair|OBAIRH|PROOPIOMELANOCORTIN deficiency UMLS:C1857854|MESH:C565726|ICD9:255.5|OMIM:601665|Orphanet:71526|OMIM:609734|ICD10:E66.8|GARD:0010823|SCTID:702949005 owl:Class HGNC:9201 biolink:NamedThing POMC tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22 biolink:NamedThing chromosome 22 (Human) tmpte7i6ely_mondo_relaxed.owl 22 50818468 0 hg38 owl:Class MONDO:0021408 biolink:NamedThing polyp of frontal sinus A polyp that involves the frontal sinus. tmpte7i6ely_mondo_relaxed.owl polyp of the frontal sinus|frontal sinus polyp UMLS:C0339814|NCIT:C4367|SCTID:195759002|ICD9:471.8 owl:Class UBERON:0001760 biolink:NamedThing frontal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004976 biolink:NamedThing amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. tmpte7i6ely_mondo_relaxed.owl motor neuron disease, bulbar|ALS|amyotrophic lateral sclerosis|Lou Gehrig's disease|Charcot disease|Lou Gehrig disease ICD10:G12.2|MESH:D000690|EFO:0000253|KEGG:05014|NIFSTD:birnlex_12566|SCTID:86044005|UMLS:C0002736|Orphanet:803|NCIT:C34373|ICD9:335.20|DOID:332|MedDRA:10002026|GARD:0005786|ICD10:G12.21 owl:Class UBERON:0001008 biolink:NamedThing renal system tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q31 biolink:NamedThing 2q31 (Human) tmpte7i6ely_mondo_relaxed.owl 182100000 168900000 hg38 owl:Class MONDO:0007031 biolink:NamedThing familial abdominal aortic aneurysm An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial abdominal|hereditary abdominal aortic aneurysm OMIMPS:100070|GARD:0009181|OMIM:100070|OMIM:609782|Orphanet:86|OMIM:611891|UMLS:C4275172|OMIM:614375|ICD10:I71.4|UMLS:CN206207|SCTID:715364001 owl:Class GO:1905213 biolink:NamedThing negative regulation of mitotic chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009660 biolink:NamedThing mucopolysaccharidosis type 4B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. tmpte7i6ely_mondo_relaxed.owl MPS4B|mucopolysaccharidosis, type 4B|mucopolysaccharidosis, type IVB|Morquio syndrome B|Morquio disease type B|MPS 4B|MPSIVB|mucopolysaccharidosis type IVB|MPS IVB|Beta-D-galactosidase deficiency|MPS IV B Orphanet:582|GARD:0003786|DOID:0111392|ICD10:E76.2|SCTID:238044004|OMIM:253010|UMLS:C0086652|NCIT:C84902|Orphanet:309310 owl:Class GO:0004565 biolink:NamedThing beta-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. tmpte7i6ely_mondo_relaxed.owl beta-lactosidase activity|exo-(1->4)-beta-D-galactanase activity|beta-D-lactosidase activity|trilactase activity|maxilact|lactozym|hydrolact|lactose hydrolysis|beta-D-galactoside galactohydrolase activity|oryzatym|S 2107|beta-D-galactanase activity|sumiklat owl:Class GO:0030216 biolink:NamedThing keratinocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. tmpte7i6ely_mondo_relaxed.owl keratinocyte cell differentiation owl:Class GO:0060456 biolink:NamedThing positive regulation of digestive system process Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022600 biolink:NamedThing digestive system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012914 biolink:NamedThing chromosome 1q21.1 deletion syndrome 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. tmpte7i6ely_mondo_relaxed.owl monosomy 1q21.1|chromosome 1q21.1 microdeletion syndrome|Del(1)(q21)|1q21.1 microdeletion syndrome|chromosome 1q21.1 deletion syndrome, 1.35-MB|1q21.1 microdeletion OMIM:612474|ICD10:Q93.5|GARD:0010813|Orphanet:250989|ICD9:758.33|SCTID:699305004|DOID:0060411 owl:Class UBERON:0004488 biolink:NamedThing musculature of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014876 biolink:NamedThing intellectual disability, autosomal recessive 54 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive type 54|mental retardation, autosomal recessive 54|MRT54|TNIK autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 54|autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|mental retardation, autosomal recessive type 54 OMIM:617028|UMLS:C4310755 owl:Class MONDO:0013255 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 2 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. tmpte7i6ely_mondo_relaxed.owl arthrogryposis, renal dysfunction, and cholestasis 2|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|ARCS2|arthrogryposis, renal dysfunction, and cholestasis type 2|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome OMIM:613404|DOID:0111354|Orphanet:2697|UMLS:C3150672 owl:Class HGNC:20347 biolink:NamedThing VIPAS39 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001042 biolink:NamedThing chordate pharynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018140 biolink:NamedThing mammary lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001118 biolink:NamedThing Queensland tick typhus A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy. tmpte7i6ely_mondo_relaxed.owl North Queensland tick typhus|Rickettsia australis spotted fever|Australian tick typhus DOID:10784|SCTID:68981009|ICD9:082.3|UMLS:C2979888 owl:Class NCBITaxon:65647 biolink:NamedThing Ixodes holocyclus tmpte7i6ely_mondo_relaxed.owl paralysis tick GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013754 biolink:NamedThing integumentary system layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100448 biolink:NamedThing RAB28-related retinopathy A retinopathy caused by biallelic variants in the RAB28 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy 18|CORD18|RAB28 cone-rod dystrophy|cone-rod dystrophy type 18|RAB28 retinopathy owl:Class HGNC:9768 biolink:NamedThing RAB28 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005992 biolink:NamedThing pulmonary valve cusp tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004911 biolink:NamedThing cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. tmpte7i6ely_mondo_relaxed.owl ICD9:093.9|DOID:9880|ICD9:093.8|SCTID:83883001|UMLS:C0039130|ICD9:093.89 owl:Class HP:0002617 biolink:NamedThing Vascular dilatation Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. tmpte7i6ely_mondo_relaxed.owl Aneurysms|Wider than typical opening or gap|Aneurysmal disease|Aneurysmal dilatation|Aneurysm SNOMEDCT_US:432119003|SNOMEDCT_US:85659009|UMLS:C4020848|UMLS:C0002940|MSH:D000783|Fyler:2399 Aneurysm is considered a severe form of dilatation. human_phenotype owl:Class UBERON:0035606 biolink:NamedThing cartilage of external acoustic meatus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001867 biolink:NamedThing cartilage of external ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001908 biolink:NamedThing optic tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011739 biolink:NamedThing pancreatic cancer, susceptibility to, 1 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. tmpte7i6ely_mondo_relaxed.owl familial pancreatic carcinoma caused by mutation in PALLD|susceptibility to pancreatic cancer 1|PALLD familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 1|Pnca1|pancreatic cancer, susceptibility to, type 1 Orphanet:1333|OMIM:606856 owl:Class HGNC:17068 biolink:NamedThing PALLD tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001802 biolink:NamedThing type III hypersensitivity An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070091 biolink:NamedThing glucagon secretion The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001324 biolink:NamedThing hyperandrogenism A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction. tmpte7i6ely_mondo_relaxed.owl hyperandrogenization syndrome DOID:11613|UMLS:C0206081|SCTID:237793004|MESH:D017588|EFO:0009006 owl:Class HP:0030348 biolink:NamedThing Increased circulating androgen concentration An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpte7i6ely_mondo_relaxed.owl Increased circulating androgen level UMLS:C4072893 human_phenotype owl:Class MONDO:0016718 biolink:NamedThing choroid plexus carcinoma A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl cancer of choroid plexus|carcinoma of choroid plexus|anaplastic choroid plexus papilloma|malignant neoplasm of choroid plexus|malignant neoplasm of the choroid plexus|choroid plexus cancer|choroid plexus carcinoma (morphologic abnormality)|choroid plexus carcinoma|carcinoma, choroid plexus, malignant|carcinoma of the choroid plexus|malignant tumor of choroid plexus|cancer of the choroid plexus DOID:5648|ICDO:9390/3|GARD:0008238|NCIT:C4533|SCTID:188292007|ICD10:C71.7|OMIM:260500|ONCOTREE:CPC|Orphanet:251899|NCIT:C4715|MedDRA:10067478|MESH:C562943 owl:Class UBERON:0003911 biolink:NamedThing choroid plexus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022889 biolink:NamedThing craniostenosis with congenital heart disease intellectual disability tmpte7i6ely_mondo_relaxed.owl GARD:0001585 https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation owl:Class MONDO:0021140 biolink:NamedThing congenital A characteristic of a disease in which the disease is present at birth, regardless of cause. tmpte7i6ely_mondo_relaxed.owl inborn owl:Class MONDO:0005407 biolink:NamedThing childhood eosinophilic esophagitis An eosinophilic esophagitis that starts in childhood. tmpte7i6ely_mondo_relaxed.owl eosinophilic esophagitis of childhood|pediatric eosinophilic esophagitis EFO:0004594 owl:Class HP:0011463 biolink:NamedThing Childhood onset Onset of disease at the age of between 1 and 5 years. tmpte7i6ely_mondo_relaxed.owl Symptoms begin in childhood UMLS:C1837352 This term refers to ages up to but not including the fifth birthday (see Juvenile onset). peter 2012-03-25T07:16:20Z HP:0003586|HP:0003617 human_phenotype owl:Class UBERON:0005711 biolink:NamedThing foregut duodenum mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014993 biolink:NamedThing myofibrillar myopathy 8 Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene. tmpte7i6ely_mondo_relaxed.owl myofibrillar myopathy (disease) caused by mutation in PYROXD1|myofibrillar myopathy 8|myopathy, myofibrillar, 8|PYROXD1 myofibrillar myopathy (disease)|myopathy, myofibrillar, type 8|MFM8 DOID:0080308|UMLS:C4310645|OMIM:617258 owl:Class HGNC:26162 biolink:NamedThing PYROXD1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1033 biolink:NamedThing BDNF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013344 biolink:NamedThing migraine, with or without aura, susceptibility to, 13 Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. tmpte7i6ely_mondo_relaxed.owl migraine disorder caused by mutation in KCNK18|migraine, with or without aura, susceptibility to, 13|susceptibility to migraine with or without aura 13|migraine with or without aura, susceptibility to, 13|KCNK18 migraine disorder|MGR13|migraine, with or without aura, susceptibility to, type 13 OMIM:613656 owl:Class CHEBI:35640 biolink:NamedThing adrenergic uptake inhibitor Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin. tmpte7i6ely_mondo_relaxed.owl NERI|adrenergic reuptake inhibitors|adrenergic uptake inhibitors|adrenergic reuptake inhibitor|NRI|norepinephrine reuptake inhibitor|ARI|norepinephrine reuptake inhibitors owl:Class GO:0014046 biolink:NamedThing dopamine secretion The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016812 biolink:NamedThing dopa-responsive dystonia Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. tmpte7i6ely_mondo_relaxed.owl DYT5 dystonia|HPD with diurnal fluctuation|Segawa's disease|DYT-SPR (subtype)|hereditary progressive dystonia with diurnal fluctuation|DYT-TH (subtype)|DYT5|DYT-GCH1 (subtype)|dopa-responsive dystonia SCTID:230332007|ICD10:G24.8|GARD:0009817|Orphanet:255|UMLS:C1851920|MESH:C538007|NCIT:C116719 owl:Class CHEBI:15765 biolink:NamedThing L-dopa An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease tmpte7i6ely_mondo_relaxed.owl (-)-3-(3,4-dihydroxyphenyl)-L-alanine|3-Hydroxy-L-tyrosine|3,4-Dihydroxy-L-phenylalanine|beta-(3,4-dihydroxyphenyl)alanine|L-dopa|L-Dopa|(-)-dopa|3,4-DIHYDROXYPHENYLALANINE|beta-(3,4-dihydroxyphenyl)-L-alanine|Dihydroxy-L-phenylalanine|Dopar|L-DOPA|levodopa|(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|L-beta-(3,4-Dihydroxyphenyl)alanine|levodopum owl:Class UBERON:0002052 biolink:NamedThing adrenal gland capsule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002573 biolink:NamedThing myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. tmpte7i6ely_mondo_relaxed.owl myeloid leucocyte differentiation owl:Class UBERON:0001460 biolink:NamedThing arm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014040 biolink:NamedThing autosomal recessive osteopetrosis 8 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive osteopetrosis type 8|SNX10 autosomal recessive osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in SNX10|SNX10 autosomal recessive malignant osteopetrosis|autosomal recessive osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive type 8|osteopetrosis, autosomal recessive 8|OPTB8 Orphanet:667|UMLS:C3554478|DOID:0110940|OMIM:615085|NCIT:C150556 owl:Class UBERON:0004572 biolink:NamedThing arterial system tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004349 biolink:NamedThing Reduced bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. tmpte7i6ely_mondo_relaxed.owl Low solidness and mass of the bones|Decreased bone mineral density Z score|Decreased bone mineral density UMLS:C2674432 peter 2008-03-11T08:10:00Z human_phenotype owl:Class HGNC:9688 biolink:NamedThing CAVIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:149689 biolink:NamedThing D-dopa zwitterion An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of D-dopa. Major microspecies at pH 7.3. tmpte7i6ely_mondo_relaxed.owl (2R)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|(2R)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate|D-dopa owl:Class MONDO:0003124 biolink:NamedThing testicular Leydig cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. tmpte7i6ely_mondo_relaxed.owl testicular Leydig cell tumor|Leydig cell neoplasm of testis|Leydig cell tumor of the testis|testis Leydig cell tumor|testicular Leydig cell neoplasm|Leydig cell neoplasm of the testis|Leydig cell tumor of testis DOID:4756|EFO:1000569|UMLS:C0863027|NCIT:C6356|SCTID:67871000119105 owl:Class HGNC:29685 biolink:NamedThing IARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007628 biolink:NamedThing foveal hypoplasia 1 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. tmpte7i6ely_mondo_relaxed.owl O Donnell Pappas syndrome|foveal hypoplasia caused by mutation in PAX6|foveal hypoplasia 1|foveal hypoplasia type 1|PAX6 foveal hypoplasia|FVH1|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract|foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|foveal hypoplasia, presenile cataract GARD:0000406|Orphanet:2253|OMIM:136520|UMLS:C3805604 owl:Class HGNC:8620 biolink:NamedThing PAX6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013505 biolink:NamedThing cervical vertebra cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014034 biolink:NamedThing severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal dominant type 18|mental retardation, autosomal dominant 18|autosomal dominant mental retardation 18|intellectual disability, autosomal dominant 18|severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome|autosomal dominant non-syndromic intellectual disability 18|GATAD2B-associated neurodevelopmental disorder|MRD18|autosomal dominant intellectual disability 18|mental retardation, autosomal dominant type 18 OMIM:615074|UMLS:C3554448|Orphanet:363686|DOID:0070048|ICD10:Q87.8|GARD:0012815 owl:Class MONDO:0015289 biolink:NamedThing infectious epithelial keratitis Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. tmpte7i6ely_mondo_relaxed.owl Orphanet:137593 owl:Class UBERON:0001772 biolink:NamedThing corneal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020652 biolink:NamedThing immature teratoma of vulva tmpte7i6ely_mondo_relaxed.owl ONCOTREE:VIMT owl:Class MONDO:0012827 biolink:NamedThing scoliosis, isolated, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl IS5|scoliosis, isolated, susceptibility to, 5 OMIM:612239 owl:Class MONDO:0000726 biolink:NamedThing idiopathic scoliosis A scoliosis with no known cause. tmpte7i6ely_mondo_relaxed.owl SCTID:203639008|OMIM:608765|UMLS:CN241052|OMIM:607354|OMIM:612239|OMIM:181800|DOID:0060250|OMIM:612238 owl:Class UBERON:0003596 biolink:NamedThing ankle connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1677 biolink:NamedThing CD247 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001516 biolink:NamedThing abdominal aorta tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010442 biolink:NamedThing Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes. tmpte7i6ely_mondo_relaxed.owl More than five fingers or toes on hands or feet UMLS:C0152427|MSH:D017689|SNOMEDCT_US:367506006|Fyler:4103 doelkens 2009-07-29T01:39:27Z HP:0006123|HP:0006046|HP:0009605|HP:0006034 human_phenotype owl:Class HGNC:18083 biolink:NamedThing TRPV4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001803 biolink:NamedThing epithelium of lens tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000646 biolink:NamedThing lithosphere A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001545 biolink:NamedThing inflexible A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking. tmpte7i6ely_mondo_relaxed.owl stiff|stiffness owl:Class MONDO:0002219 biolink:NamedThing paraurethral gland neoplasm A neoplasm (disease) that involves the paraurethral gland. tmpte7i6ely_mondo_relaxed.owl paraurethral gland tumor|neoplasm of paraurethral gland|tumor of paraurethral gland|tumor of the paraurethral gland|paraurethral gland neoplasm (disease)|neoplasm of paraurethral glands ICD9:239.5|SCTID:126884005|UMLS:C0341766|DOID:2139 owl:Class UBERON:0010145 biolink:NamedThing paraurethral gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004537 biolink:NamedThing blood vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001894 biolink:NamedThing diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003851 biolink:NamedThing diencephalon neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000165 biolink:NamedThing mouth tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007240 biolink:NamedThing tunica adventitia of artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011192 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 18A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 18A|autosomal recessive nonsyndromic deafness type 18A|DFNB18A|autosomal recessive nonsyndromic deafness 18A|deafness, autosomal recessive 18|deafness, autosomal recessive 18A|USH1C autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in USH1C|autosomal recessive deafness 18A OMIM:602092|MESH:C566580|UMLS:C1865870|ICD10:H90.3|DOID:0110473 owl:Class HGNC:12597 biolink:NamedThing USH1C tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24676 biolink:NamedThing hydroxybenzoic acid Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring. tmpte7i6ely_mondo_relaxed.owl hydroxybenzoic acids|hydroxybenzoic acid owl:Class CHEBI:30746 biolink:NamedThing benzoic acid A compound comprising a benzene ring core carrying a carboxylic acid substituent. tmpte7i6ely_mondo_relaxed.owl Dracylic acid|Benzoesaeure|BENZOIC ACID|benzoic acid|Phenylformic acid|Aromatic carboxylic acid|Benzoic acid|Phenylcarboxylic acid|Benzenemethanoic acid|Benzeneformic acid|Benzenecarboxylic acid|acide benzoique|E210 owl:Class MONDO:0000740 biolink:NamedThing adenoid hypertrophy An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. tmpte7i6ely_mondo_relaxed.owl adenoidal hypertrophy|enlarged adenoids MedDRA:10001229|UMLS:C0149825|DOID:0060311|ICD9:474.12|ICD10:J35.2|SCTID:111591002 owl:Class UBERON:0002498 biolink:NamedThing deltopectoral crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014296 biolink:NamedThing Warburg micro syndrome 4 Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene. tmpte7i6ely_mondo_relaxed.owl WARBM4|Warburg micro syndrome caused by mutation in TBC1D20|Warburg micro syndrome type 4|WARBURG micro syndrome 4|TBC1D20 Warburg micro syndrome|micro syndrome 4|Warburg micro syndrome 4 Orphanet:2510|DOID:0110719|UMLS:C3810265|OMIM:615663|ICD10:Q87.0 owl:Class HGNC:16133 biolink:NamedThing TBC1D20 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014565 biolink:NamedThing cataract 43 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene. tmpte7i6ely_mondo_relaxed.owl cataract type 43|early-onset non-syndromic cataract caused by mutation in UNC45B|cataract 43|CTRCT43|UNC45B early-onset non-syndromic cataract Orphanet:98991|UMLS:C4225389|DOID:0110259|OMIM:616279|Orphanet:91492|ICD10:Q12.0 owl:Class HGNC:14304 biolink:NamedThing UNC45B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000320 biolink:NamedThing duodenal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002114 biolink:NamedThing duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017861 biolink:NamedThing ethylene glycol poisoning Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. tmpte7i6ely_mondo_relaxed.owl ICD9:982.8|SCTID:426692001|ICD10:T52.8|Orphanet:31826 owl:Class OBO:CHR_9606-chr19q1 biolink:NamedThing 19q1 (Human) tmpte7i6ely_mondo_relaxed.owl 58617616 26200000 hg38 owl:Class MONDO:0010895 biolink:NamedThing ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). tmpte7i6ely_mondo_relaxed.owl albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness|ABCD syndrome|albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness|ABCDS OMIM:600501|UMLS:C1838099|MESH:C535334|DOID:0050600|Orphanet:918|UMLS:CN206498 owl:Class HGNC:3180 biolink:NamedThing EDNRB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003057 biolink:NamedThing chordal neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009254 biolink:NamedThing fucosidosis Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. tmpte7i6ely_mondo_relaxed.owl alpha fucosidase deficiency|Alpha-L-fucosidase deficiency|lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|fucosidosis|A-fucosidase deficiency MESH:D005645|GARD:0006473|Orphanet:349|ICD9:271.8|ICD10:E77.1|UMLS:C0016788|OMIM:230000|NCIT:C61274|SCTID:64716005|DOID:14500 https://rarediseases.info.nih.gov/diseases/6473/fucosidosis owl:Class HGNC:4006 biolink:NamedThing FUCA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009853 biolink:NamedThing body of uterus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004357 biolink:NamedThing paired limb/fin bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004356 biolink:NamedThing apical ectodermal ridge tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006227 biolink:NamedThing ethmoid bone primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002517 biolink:NamedThing basicranium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002330 biolink:NamedThing exocrine system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024502 biolink:NamedThing gallbladder neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl gall bladder neuroendocrine neoplasm|gallbladder neuroendocrine neoplasm|gall bladder neuroendocrine tumor|gall bladder NET|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of gall bladder UMLS:C3273115|NCIT:C96917 owl:Class HGNC:10771 biolink:NamedThing SF3B4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011332 biolink:NamedThing Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin tmpte7i6ely_mondo_relaxed.owl Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin UMLS:C3807235|OMIM:603529 owl:Class CHEBI:37323 biolink:NamedThing 7,8-dimethylisoalloxazine A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8. tmpte7i6ely_mondo_relaxed.owl dimethylisoalloxazine|7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione owl:Class CHEBI:37327 biolink:NamedThing isoalloxazine tmpte7i6ely_mondo_relaxed.owl benzo[g]pteridine-2,4(3H,10H)-dione owl:Class CL:1000453 biolink:NamedThing epithelial cell of intermediate tubule An epithelial cell that is part of the intermediate tubule. tmpte7i6ely_mondo_relaxed.owl FMA:70980 cell owl:Class UBERON:0004136 biolink:NamedThing intermediate tubule tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17310 biolink:NamedThing pyridoxal A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. tmpte7i6ely_mondo_relaxed.owl pyridoxaldehyde|3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carbaldehyde|3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE|Pyridoxal|pyridoxal owl:Class CHEBI:77746 biolink:NamedThing human metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). tmpte7i6ely_mondo_relaxed.owl H. sapiens metabolite|Homo sapiens metabolites|H. sapiens metabolites|Homo sapiens metabolite owl:Class HP:0000843 biolink:NamedThing Hyperparathyroidism Excessive production of parathyroid hormone (PTH) by the parathyroid glands. tmpte7i6ely_mondo_relaxed.owl Elevated blood parathyroid hormone level UMLS:C0020502|SNOMEDCT_US:66999008|MSH:D006961 human_phenotype owl:Class HGNC:2852 biolink:NamedThing DGKE tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035249 biolink:NamedThing synaptic transmission, glutamatergic The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpte7i6ely_mondo_relaxed.owl glutamatergic synaptic transmission owl:Class CHEBI:35820 biolink:NamedThing antiprotozoal drug Any antimicrobial drug which is used to treat or prevent protozoal infections. tmpte7i6ely_mondo_relaxed.owl antiprotozoal drugs|antiprotozoal agents|antiprotozoal agent owl:Class UBERON:0001720 biolink:NamedThing cochlear nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004727 biolink:NamedThing cochlear nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001997 biolink:NamedThing olfactory epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022871 biolink:NamedThing corpus callosum agenesis of blepharophimosis robin type tmpte7i6ely_mondo_relaxed.owl GARD:0001538 https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type owl:Class CHEBI:33679 biolink:NamedThing helium molecular entity tmpte7i6ely_mondo_relaxed.owl helium molecular entities|helium compounds|helium molecular entity owl:Class MONDO:0019365 biolink:NamedThing scrub typhus Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. tmpte7i6ely_mondo_relaxed.owl chigger-borne typhus|typhus fever due to Rickettsia tsutsugamushi|scrub mite-borne typhus|tsutsugamushi disease|Mite-borne typhus|Japanese river fever|scrub (mite-borne) typhus|Kedani fever|tsutsugamushi|tsutsugamushi fever|tropical typhus|Mite-borne rickettsiosis|chigger-borne rickettsiosis SCTID:271425001|ICD9:081.2|ICD10:A75.3|MESH:D012612|MedDRA:10039766|EFO:0007480|Orphanet:83317|UMLS:C0036472|DOID:13371 owl:Class NCBITaxon:784 biolink:NamedThing Orientia tsutsugamushi tmpte7i6ely_mondo_relaxed.owl Rickettsia orientalis|Rickettsia akamushi|Rickettsia tsutsugamushi|Theileria tsutsugamushi PMID:8590688|PMID:1906730|GC_ID:11 ncbi_taxonomy owl:Class HGNC:21406 biolink:NamedThing RARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024553 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 1 Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene. tmpte7i6ely_mondo_relaxed.owl myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|mitochondrial myopathy and sideroblastic anemia|PUS1 myopathy, lactic acidosis, and sideroblastic anemia|MLASA1|myopathy, lactic acidosis, and sideroblastic anemia 1 UMLS:C1838103|Orphanet:2598|OMIM:600462|DOID:0111185 owl:Class HGNC:15508 biolink:NamedThing PUS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044342 biolink:NamedThing thoracic disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the thoracic spine. tmpte7i6ely_mondo_relaxed.owl degeneration of thoracic intervertebral disc|thoracic region of vertebral column intervertebral disc degenerative disorder|thoracic Disc degenerative disease|thoracic Disc Degeneration|intervertebral disc degenerative disorder of thoracic region of vertebral column|thoracic Disc degenerative disorder SCTID:68675004|UMLS:C0263872|NCIT:C27155 owl:Class MONDO:0009837 biolink:NamedThing choroid plexus papilloma Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. tmpte7i6ely_mondo_relaxed.owl papilloma, choroid plexus, benign|papilloma of choroid plexus|CPP|childhood papilloma of choroid plexus|pediatric papilloma of choroid plexus|choroid plexus carcinoma|choroid plexus papilloma, no ICD-O subtype|papilloma of the choroid plexus|choroid plexus papilloma NOS (morphologic abnormality)|choroid plexus papilloma|childhood choroid plexus papilloma ONCOTREE:CPP|ICD10:D33.0|OMIM:260500|Orphanet:251899|MESH:D020288|Orphanet:2807|NCIT:C3698|ICDO:9390/0|EFO:1000177|GARD:0004214|SCTID:425868004|MedDRA:10008777|DOID:2626|UMLS:C0205770 owl:Class HGNC:11998 biolink:NamedThing TP53 tmpte7i6ely_mondo_relaxed.owl owl:Class ExO:0000000 biolink:NamedThing exposure stressor An agent, stimulus, activity, or event that causes stress or tension on an organism and interacts with an exposure_receptor during an exposure event. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014038 biolink:NamedThing colorectal cancer, susceptibility to, 12 Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene. tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, 12|colorectal cancer, susceptibility to, type 12|POLE colorectal cancer|colorectal cancer caused by mutation in POLE|CRCS12|susceptibility to colorectal cancer 12|colorectal cancer, susceptibility to, on chromosome 12Q24 OMIM:615083 owl:Class HGNC:9177 biolink:NamedThing POLE tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006911 biolink:NamedThing phagocytosis, engulfment The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. tmpte7i6ely_mondo_relaxed.owl phagosome biosynthesis|phagosome formation owl:Class MONDO:0002353 biolink:NamedThing glottis neoplasm A benign or malignant neoplasm that affects the glottic area of the larynx. tmpte7i6ely_mondo_relaxed.owl tumor of the glottis|neoplasm of glottis|glottis tumor|neoplasm of the glottis|glottis neoplasm|glottis neoplasm (disease)|tumor of glottis SCTID:126693009|DOID:2597|NCIT:C4425|UMLS:C0345713 owl:Class UBERON:0002486 biolink:NamedThing glottis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001044 biolink:NamedThing saliva-secreting gland tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:33213 biolink:NamedThing Bilateria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000033 biolink:NamedThing head tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036214 biolink:NamedThing rectosigmoid junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013749 biolink:NamedThing ventricular septal defect 3 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene. tmpte7i6ely_mondo_relaxed.owl VSD3|ventricular septal defect 3|NKX2-5 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in NKX2-5|ventricular septal defect type 3 UMLS:C3280785|OMIM:614432 owl:Class MONDO:0004155 biolink:NamedThing adult central nervous system embryonal carcinoma A embryonal carcinoma of the central nervous system that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl embryonal carcinoma of the adult CNS|adult embryonal carcinoma of the central nervous system|adult CNS embryonal carcinoma|adult central nervous system embryonal carcinoma|Central nervous system embryonal carcinoma|embryonal carcinoma of adult central nervous system|embryonal carcinoma of adult CNS|embryonal carcinoma of the central nervous system of adults|embryonal carcinoma of the adult central nervous system DOID:7233|NCIT:C5790|UMLS:C1370503 owl:Class HP:0003581 biolink:NamedThing Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. tmpte7i6ely_mondo_relaxed.owl Symptoms begin in adulthood|Onset in adulthood|Onset in early adulthood UMLS:C1853562 HP:0003627|HP:0003662|HP:0003585|HP:0003669|HP:0003598 human_phenotype owl:Class GO:0090283 biolink:NamedThing regulation of protein glycosylation in Golgi Any process that modulates the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpte7i6ely_mondo_relaxed.owl regulation of protein amino acid glycosylation in Golgi owl:Class GO:0033578 biolink:NamedThing protein glycosylation in Golgi The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpte7i6ely_mondo_relaxed.owl terminal glycosylation|protein amino acid glycosylation in Golgi owl:Class UBERON:0005685 biolink:NamedThing midgut dorsal mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001045 biolink:NamedThing midgut tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9922 biolink:NamedThing RBP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009590 biolink:NamedThing metachromatic leukodystrophy due to saposin b deficiency tmpte7i6ely_mondo_relaxed.owl saposin B deficiency|metachromatic leukodystrophy due to saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency UMLS:C0268262|SCTID:68390005|MESH:C562609|OMIM:249900|GARD:0010674|Orphanet:512 https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency owl:Class HGNC:9498 biolink:NamedThing PSAP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004205 biolink:NamedThing inner medullary collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001294 biolink:NamedThing inner medulla of kidney tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15480 biolink:NamedThing DIAPH3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001970 biolink:NamedThing bile tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:59560 biolink:NamedThing sapropterin A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer). tmpte7i6ely_mondo_relaxed.owl (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin|6R-BH4|sapropterina|(6R)-L-erythro-tetrahydrobiopterin|sapropterin|R-THBP|(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|5,6,7,8-Tetrahydrobiopterin|sapropterinum|6R-5,6,7,8-tetrahydrobiopterin|(-)-(6R)-2-amino-6-((1R,2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone|6R-L-5,6,7,8-tetrahydrobiopterin|tetrahydrobiopterin owl:Class CHEBI:33295 biolink:NamedThing diagnostic agent A substance administered to aid diagnosis of a disease. tmpte7i6ely_mondo_relaxed.owl diagnostic aid owl:Class UBERON:0001643 biolink:NamedThing oculomotor nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001758 biolink:NamedThing paranasal sinus sarcoma A malignant soft tissue neoplasm that arises from the paranasal sinus. tmpte7i6ely_mondo_relaxed.owl sarcoma of accessory sinus|sarcoma of the accessory sinus|accessory sinus sarcoma|sarcoma of paranasal sinus|sarcoma of the paranasal sinus|paranasal sinus sarcoma DOID:1362|UMLS:C1335342|NCIT:C6849 owl:Class UBERON:0003476 biolink:NamedThing respiratory system venous blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002415 biolink:NamedThing tail tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000007 biolink:NamedThing Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). tmpte7i6ely_mondo_relaxed.owl Autosomal recessive predisposition|Autosomal recessive form|Autosomal recessive UMLS:C0441748|UMLS:C4020899|SNOMEDCT_US:258211005 HP:0001526|HP:0001416 human_phenotype owl:Class HsapDv:0000123 biolink:NamedThing 29-year-old human stage Adult stage that refers to an adult who is over 29 and under 30. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000122 biolink:NamedThing 28-year-old human stage Adult stage that refers to an adult who is over 28 and under 29. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000085 biolink:NamedThing morula tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000349 biolink:NamedThing negative regulation of CD40 signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpte7i6ely_mondo_relaxed.owl negative regulation of CD40 signalling pathway owl:Class GO:0023035 biolink:NamedThing CD40 signaling pathway A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription. tmpte7i6ely_mondo_relaxed.owl CD40 signalling pathway owl:Class UBERON:0003424 biolink:NamedThing mesenchyme of hard palate tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11356 biolink:NamedThing STAG3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005091 biolink:NamedThing severe acute respiratory syndrome A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. tmpte7i6ely_mondo_relaxed.owl SARS-CoV infection|SARS coronavirus caused disease or disorder|SARS|SARS coronavirus infectious disease|SARS coronavirus disease or disorder|acute respiratory coronavirus infection ICD9:079.82|DOID:2945|MedDRA:10061982|Orphanet:140896|NCIT:C85064|MESH:D045169|GARD:0009237|EFO:0000694|ICD10:J12.81|SCTID:398447004|UMLS:C1175175|ICD10:U04.9 MONDO:0015370 owl:Class HGNC:5950 biolink:NamedThing IGSF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005619 biolink:NamedThing typhoid fever A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. tmpte7i6ely_mondo_relaxed.owl typhoidal salmonellosis|typhoid fever|typhoid ICD10:A01.00|EFO:0006789|Orphanet:99745|ICD10:A01.0|DOID:13258|ICD9:002.0|UMLS:C0041466|GARD:0009564|SCTID:4834000|MESH:D014435|NCIT:C35089 MONDO:0020486 owl:Class MONDO:0002141 biolink:NamedThing cutaneous undifferentiated pleomorphic sarcoma An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. tmpte7i6ely_mondo_relaxed.owl cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|malignant fibrous histiocytoma of skin|malignant cutaneous fibrous histiocytoma|cutaneous malignant fibrous histiocytoma|cutaneous undifferentiated pleomorphic sarcoma|malignant fibrous histiocytoma of the skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|malignant skin fibrous histiocytoma|cutaneous unclassified pleomorphic sarcoma|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)|zone of skin undifferentiated pleomorphic sarcoma|undifferentiated pleomorphic sarcoma of zone of skin UMLS:C1275254|ICD9:171.9|EFO:1000212|SCTID:404014008|DOID:1906|NCIT:C5576 owl:Class MONDO:0014816 biolink:NamedThing split-foot malformation-mesoaxial polydactyly syndrome tmpte7i6ely_mondo_relaxed.owl split-foot malformation with mesoaxial polydactyly|split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|SFMMP UMLS:C4225167|OMIM:616890|Orphanet:488232 owl:Class HGNC:17797 biolink:NamedThing MAP3K20 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013746 biolink:NamedThing ventricular septal defect 1 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpte7i6ely_mondo_relaxed.owl GATA4 ventricular septal defect (disease)|ventricular septal defect type 1|VSD1|ventricular septal defect 1|ventricular septal defect (disease) caused by mutation in GATA4 UMLS:C3280777|OMIM:614429 owl:Class HGNC:4173 biolink:NamedThing GATA4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006549 biolink:NamedThing fibroepithelial polyp of the anus A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium. tmpte7i6ely_mondo_relaxed.owl anal fibroepithelial polyp|fibrous polyp of anus|fibroepithelial polyp of anus|fibrous polyp of the anus|anal tag|anal fibrous polyp|skin tag of anus|anus skin tag SCTID:195469007|NCIT:C5604|DOID:8170|NCIT:C4435|EFO:1000699 owl:Class MONDO:0008676 biolink:NamedThing white sponge nevus 1 Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene. tmpte7i6ely_mondo_relaxed.owl WHITE sponge NEVUS 1|White sponge Nevus of Cannon|white sponge nevus 1|White sponge Nevus type 1|leukokeratosis, hereditary mucosal|WSN1|KRT4 hereditary mucosal leukokeratosis|hereditary mucosal leukokeratosis caused by mutation in KRT4 UMLS:C4011926|UMLS:C1721005|OMIM:193900|Orphanet:171723 owl:Class HGNC:6441 biolink:NamedThing KRT4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009291 biolink:NamedThing glycogen storage disease III Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. tmpte7i6ely_mondo_relaxed.owl glycogen storage disease, type III|Forbes disease|GSD due to glycogen debranching enzyme deficiency|glycogen Debrancher deficiency|glycogen storage disease IIID|glycogen storage disease IIIa|limit dextrinosis|deficiency of debranching enzyme|GSD type 3|Agl deficiency|glycogen storage disease type 3|Cori disease|glycogenosis type 3|glycogen storage disease IIIC|glycogenosis due to glycogen debranching enzyme deficiency|deficiency of dextrin|glycogen storage disease due to glycogen debranching enzyme deficiency|AGL glycogen storage disease|glycogenosis type III|glycogen storage disease IIIb|Gde deficiency|glycogen storage disease type III|GSD3|GDE deficiency|glycogen storage disease caused by mutation in AGL|glycogen storage disease III|amylo 1,6 glucosidase deficiency|glycogen storage disease 3|GSDIII|Cori-Forbes disease|amylo-1,6-glucosidase deficiency MESH:D006010|ICD10:E74.03|UMLS:CN204781|UMLS:C1968741|MedDRA:10053250|OMIM:232400|UMLS:C0017922|DOID:2748|GARD:0009442|ICD10:E74.0|NCIT:C84736|Orphanet:366|SCTID:66937008 owl:Class HGNC:321 biolink:NamedThing AGL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006198 biolink:NamedThing endometrial squamous cell carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells. tmpte7i6ely_mondo_relaxed.owl endometrium squamous cell carcinoma|squamous cell carcinoma of endometrium|squamous cell carcinoma of the endometrium|endometrial squamous cell carcinoma EFO:1000240|DOID:5533|UMLS:C1333396|NCIT:C8719 owl:Class GO:1904315 biolink:NamedThing transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. tmpte7i6ely_mondo_relaxed.owl ionotropic neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential|ionotropic neurotransmitter receptor activity involved in regulation of post-synaptic membrane potential owl:Class GO:0060078 biolink:NamedThing regulation of postsynaptic membrane potential Any process that modulates the potential difference across a post-synaptic membrane. tmpte7i6ely_mondo_relaxed.owl regulation of post-synaptic membrane potential owl:Class CL:0002575 biolink:NamedThing central nervous system pericyte A pericyte of the central nervous system. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-02T02:54:18Z cell owl:Class UBERON:0002802 biolink:NamedThing left parietal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004668 biolink:NamedThing fascioliasis A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. tmpte7i6ely_mondo_relaxed.owl sheep liver fluke infection|infection by fasciola|liver flukes|fasciola hepatica infection|Fasciolosis UMLS:C0015652|UMLS:C1331532|DOID:885|MESH:D005211|ICD10:B66.3|GARD:0006428|SCTID:82308007|ICD9:121.3|EFO:1001324|NCIT:C128387 https://rarediseases.info.nih.gov/diseases/6428/fascioliasis owl:Class MONDO:0018713 biolink:NamedThing retiform hemangioendothelioma An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels. tmpte7i6ely_mondo_relaxed.owl hobnail hemangioendothelioma|retiform hemangioendothelioma UMLS:C1304512|SCTID:403982005|NCIT:C27511|Orphanet:458763|UMLS:CN242097|ICD10:D18.0 owl:Class UBERON:0009671 biolink:NamedThing nasal fin tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005384 biolink:NamedThing nasal cavity epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004452 biolink:NamedThing carpal region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001831 biolink:NamedThing parotid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011929 biolink:NamedThing chromosome 1p36 deletion syndrome A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. tmpte7i6ely_mondo_relaxed.owl deletion 1pter|subtelomeric 1p36 deletion|monosomy 1pter|monosomy 1p36|chromosome 1p36 deletion syndrome|1p Telomere Deletion syndrome|1p36 deletion syndrome|monosomy 1P36 syndrome|deletion 1p36|Del(1)(p36) OMIM:607872|MESH:C535362|GARD:0006082|ICD10:Q93.5|SCTID:699306003|Orphanet:1606|ICD9:758.39|DOID:0060410|UMLS:C1842870|NCIT:C74983 https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome|https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0012723 biolink:NamedThing Leber congenital amaurosis 10 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene. tmpte7i6ely_mondo_relaxed.owl CEP290 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis 10|Leber congenital amaurosis type 10|amaurosis congenita of Leber, type 10|LCA10 OMIM:611755|ICD10:H35.5|MESH:C565720|GARD:0010487|DOID:0110291 https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10 owl:Class HGNC:29021 biolink:NamedThing CEP290 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001049 biolink:NamedThing neural tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011093 biolink:NamedThing mucopolysaccharidosis type 9 An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. tmpte7i6ely_mondo_relaxed.owl MPS 9|MPS9|hyaluronidase deficiency|mucopolysaccharidosis type 9|mucopolysaccharidosis IX|mucopolysaccharidosis type IX|mucopolysaccharidosis, type 9|MPSIX|mucopolysaccharidosis, type IX Orphanet:67041|DOID:0050809|OMIM:601492|MESH:C563209|NCIT:C129073|SCTID:124473006|UMLS:C1291490|ICD9:277.6|ICD10:E76.2 owl:Class GO:1900372 biolink:NamedThing negative regulation of purine nucleotide biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpte7i6ely_mondo_relaxed.owl down-regulation of purine nucleotide anabolism|down-regulation of purine nucleotide synthesis|inhibition of purine nucleotide anabolism|negative regulation of purine nucleotide formation|inhibition of purine nucleotide formation|down regulation of purine nucleotide biosynthesis|negative regulation of purine nucleotide synthesis|down regulation of purine nucleotide anabolism|downregulation of purine nucleotide anabolism|downregulation of purine nucleotide biosynthetic process|down-regulation of purine nucleotide biosynthesis|down regulation of purine nucleotide formation|negative regulation of purine nucleotide biosynthesis|downregulation of purine nucleotide biosynthesis|downregulation of purine nucleotide synthesis|inhibition of purine nucleotide biosynthesis|negative regulation of purine nucleotide anabolism|inhibition of purine nucleotide synthesis|downregulation of purine nucleotide formation|down-regulation of purine nucleotide formation|down regulation of purine nucleotide synthesis|down regulation of purine nucleotide biosynthetic process|inhibition of purine nucleotide biosynthetic process|down-regulation of purine nucleotide biosynthetic process owl:Class GO:0006164 biolink:NamedThing purine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleotide biosynthesis|purine nucleotide anabolism|purine nucleotide synthesis|purine nucleotide formation owl:Class MONDO:0012258 biolink:NamedThing epidermolysis bullosa simplex 2E, with migratory circinate erythema A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex with migratory circinate erythema|EBS-migr SCTID:716700003|MESH:C563730|UMLS:C1836284|OMIM:609352|ICD10:Q81.0|Orphanet:158681 owl:Class HGNC:6442 biolink:NamedThing KRT5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009775 biolink:NamedThing Oguchi disease-1 Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene. tmpte7i6ely_mondo_relaxed.owl night blindness, congenital stationary, Oguchi type 1|Oguchi disease type 1|Oguchi disease caused by mutation in SAG|CSNBO1|congenital stationary night blindness Oguchi type 1|SAG Oguchi disease|Oguchi disease 1 OMIM:258100|DOID:0110712|Orphanet:75382 owl:Class HGNC:10521 biolink:NamedThing SAG tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013758 biolink:NamedThing cervical os tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005363 biolink:NamedThing inferior vagus X ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014086 biolink:NamedThing osteogenesis imperfecta type 15 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, type XV|osteogenesis imperfecta, type 15|OI, type 15|osteogenesis imperfecta type XV|OI15|osteogenesis imperfecta caused by mutation in WNT1|WNT1 osteogenesis imperfecta Orphanet:666|Orphanet:216812|ICD10:Q78.0|Orphanet:216820|UMLS:C3808844|OMIM:615220|DOID:0110347 owl:Class HGNC:12774 biolink:NamedThing WNT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004233 biolink:NamedThing lower respiratory tract smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007297 biolink:NamedThing presumptive pronephric mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013569 biolink:NamedThing short-rib thoracic dysplasia 7 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. tmpte7i6ely_mondo_relaxed.owl short rib-polydactyly syndrom type V|SRPS5|SRTD7|short-rib thoracic dysplasia 7 with or without polydactyly|short rib-polydactyly syndrome type 5|short rib-polydactyly syndrome, type 5 OMIM:614091|UMLS:C3279792|ICD10:Q77.2|DOID:0110090|Orphanet:498497|Orphanet:93271 owl:Class HGNC:29250 biolink:NamedThing WDR35 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008752 biolink:NamedThing Alexander disease Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. tmpte7i6ely_mondo_relaxed.owl Alexander's disease|Alexander disease|alexanders leukodystrophy|megalencephaly in infancy accompanied by progressive spasticity and dementia|ALXDRD|AxD NCIT:C84545|GARD:0005774|UMLS:C0270726|MESH:D038261|DOID:4252|ICD10:E75.2|OMIM:203450|Orphanet:58|SCTID:81854007 https://rarediseases.info.nih.gov/diseases/5774/alexander-disease owl:Class HGNC:4235 biolink:NamedThing GFAP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001973 biolink:NamedThing Brucella abortus brucellosis A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. tmpte7i6ely_mondo_relaxed.owl MESH:D002007|SCTID:427795000|DOID:14457|ICD9:023.1|ICD10:A23.1 owl:Class GO:0001763 biolink:NamedThing morphogenesis of a branching structure The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. tmpte7i6ely_mondo_relaxed.owl branching morphogenesis owl:Class MONDO:0008457 biolink:NamedThing spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. tmpte7i6ely_mondo_relaxed.owl SCA6|spinocerebellar ataxia 6|CACNA1A autosomal dominant cerebellar ataxia type III|spinocerebellar ataxia type 6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A ICD10:G11.2|NCIT:C142838|UMLS:C0752124|DOID:0050956|GARD:0010351|Orphanet:98758|SCTID:715752006|OMIM:183086 https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6 owl:Class HGNC:1388 biolink:NamedThing CACNA1A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007646 biolink:NamedThing endomeninx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003967 biolink:NamedThing cutaneous elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001323 biolink:NamedThing tibial nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001322 biolink:NamedThing sciatic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001459 biolink:NamedThing skin of external ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004704 biolink:NamedThing bone fossa tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11272 biolink:NamedThing SPTA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033864 biolink:NamedThing infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:522077|OMIM:618218 owl:Class UBERON:0010686 biolink:NamedThing manual digit phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008964 biolink:NamedThing congenital secretory chloride diarrhea 1 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene. tmpte7i6ely_mondo_relaxed.owl congenital chloridorrhea|diarrhea 1, secretory chloride, congenital|congenital chloride diarrhea Finnish type|DIAR1|congenital secretory chloride diarrhea type 1|Darrow-gamble disease|SLC26A3 secretory diarrhea|chloride diarrhea, congenital, Finnish type|CLD|familial chloride diarrhea|secretory diarrhea caused by mutation in SLC26A3|Chloridorrhea, congenital|congenital chloride diarrhea ICD10:P78.3|DOID:0060296|GARD:0010001|Orphanet:53689|ICD9:579.8|SCTID:24412005|MESH:C536210|OMIM:214700 owl:Class GO:0015108 biolink:NamedThing chloride transmembrane transporter activity Enables the transfer of chloride ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl chloride ABC transporter|chloride transporting ATPase activity|ATPase-coupled chloride transmembrane transporter activity|chloride ion transmembrane transporter activity|ATP-dependent chloride transmembrane transporter activity|chloride-transporting ATPase activity owl:Class UBERON:0009098 biolink:NamedThing gravid uterus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007565 biolink:NamedThing female pregnancy The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. tmpte7i6ely_mondo_relaxed.owl gestation|carrying of young owl:Class MONDO:0014711 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2W Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2W|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2w|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|CMT2W|autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|Charcot-Marie-Tooth neuropathy, type 2W|Charcot-Marie-Tooth disease, axonal type 2W|Charcot-Marie-Tooth neuropathy type 2W Orphanet:488333|DOID:0110162|UMLS:C4225265|OMIM:616625 owl:Class HGNC:4816 biolink:NamedThing HARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001707 biolink:NamedThing cardiac sarcoidosis Sarcoidosis affecting the tissues of the heart. tmpte7i6ely_mondo_relaxed.owl heart sarcoidosis|sarcoidosis of heart DOID:13405|NCIT:C35589|UMLS:C0392077|SCTID:75403004 owl:Class UBERON:0000948 biolink:NamedThing heart tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015017 biolink:NamedThing anterior segment dysgenesis 8 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene. tmpte7i6ely_mondo_relaxed.owl CPAMD8 anterior segment dysgenesis|ASGD8|anterior segment dysgenesis caused by mutation in CPAMD8|anterior segment dysgenesis 8|anterior segment dysgenesis type 8 UMLS:C4310622|OMIM:617319|DOID:0080613 owl:Class UBERON:0007220 biolink:NamedThing late embryonic stage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000111 biolink:NamedThing organogenesis stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. tmpte7i6ely_mondo_relaxed.owl segmentation stage owl:Class UBERON:0002125 biolink:NamedThing thymus lobule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000229 biolink:NamedThing cytoplasmic chromosome A chromosome found in the cytoplasm. tmpte7i6ely_mondo_relaxed.owl cytoplasmic interphase chromosome owl:Class MONDO:0017877 biolink:NamedThing Brazilian hemorrhagic fever Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. tmpte7i6ely_mondo_relaxed.owl Sabia hemorrhagic fever SCTID:240524001|DOID:0050197|UMLS:C0343633|Orphanet:319239|ICD10:A96.8 owl:Class NCBITaxon:2169992 biolink:NamedThing Brazilian mammarenavirus tmpte7i6ely_mondo_relaxed.owl Sabia arenavirus|Sabia virus|Sabia mammarenavirus|Sabi mammarenavirus GC_ID:1 NCBITaxon:45709 ncbi_taxonomy owl:Class UBERON:0001629 biolink:NamedThing carotid body tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002292 biolink:NamedThing type I cell of carotid body A round or oval neuroepithelial cell that contacts other type I cells or capillaries. They occur in clusters that are surrounded by sheath cells (type-II cells) in the carotid body. This cell type is capable of secreting a number of neurotransmitters. tmpte7i6ely_mondo_relaxed.owl glomus cell FMA:84186 tmeehan 2010-09-13T01:40:21Z cell owl:Class MONDO:0008829 biolink:NamedThing chylous ascites Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. tmpte7i6ely_mondo_relaxed.owl congenital chylous ascites|ascites, chylous SCTID:52985009|MESH:D002915|MedDRA:10003446|OMIM:208300|UMLS:C0008732|GARD:0001359|Orphanet:1160|ICD9:457.8|ICD10:I89.8|NCIT:C34482 https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites owl:Class ENVO:01001639 biolink:NamedThing formation of a solid aerosol from liquid material in an atmosphere A process during which microscopic solid particulates are formed from liquid materials in an atmosphere. tmpte7i6ely_mondo_relaxed.owl atmospheric formation of a solid aerosol|formation of a solid aerosol in an atmosphere|formation of solid particles from liquid material in an atmosphere|formation of a solid aerosol in the atmosphere owl:Class ENVO:01000815 biolink:NamedThing liquid environmental material An environmental material which is in a liquid state. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011744 biolink:NamedThing primary intraosseous venous malformation Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. tmpte7i6ely_mondo_relaxed.owl intraosseous hemangioma|vascular malformation, primary intraosseous|osseous venous malformation|vascular malformation osseous|hemangioma, intraosseous ICD10:D18.0|UMLS:C1847197|OMIM:606893|Orphanet:140436|SCTID:764100007|MESH:C564648 owl:Class HGNC:17233 biolink:NamedThing ELMO2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001832 biolink:NamedThing sublingual gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006297 biolink:NamedThing sublingual gland primordium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8140 biolink:NamedThing OPA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002073 biolink:NamedThing hair follicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011932 biolink:NamedThing pilosebaceous unit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014719 biolink:NamedThing developmental and epileptic encephalopathy, 35 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 35|ITPA-related encephalopathy|epileptic encephalopathy, early infantile, 35|DEE35|EIEE35 DOID:0080458|ICD10:G40.4|UMLS:C4225256|Orphanet:457375|OMIM:616647 owl:Class HGNC:6176 biolink:NamedThing ITPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014014 biolink:NamedThing epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive tmpte7i6ely_mondo_relaxed.owl EBNS|epidermolysis bullosa, nonspecific, autosomal recessive|EBS-AR exophilin 5|epidermolysis bullosa simplex due to exophilin 5 deficiency ICD10:Q81.0|OMIM:615028|UMLS:C3554367|Orphanet:412189 owl:Class HGNC:30578 biolink:NamedThing EXPH5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035956 biolink:NamedThing epididymal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006530 biolink:NamedThing seminal fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002868 biolink:NamedThing bile duct mucinous cystic neoplasm with an associated invasive carcinoma A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. tmpte7i6ely_mondo_relaxed.owl cystadenocarcinoma of bile duct|biliary cystadenocarcinoma|cystadenocarcinoma of the bile duct|bile duct mucinous cystic neoplasm with an associated invasive carcinoma|bile duct cystadenocarcinoma (morphologic abnormality)|bile duct cystadenocarcinoma DOID:4075|UMLS:C0334286|NCIT:C4130|ICDO:8161/3 Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distint component owl:Class MONDO:0003193 biolink:NamedThing bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the bile duct tmpte7i6ely_mondo_relaxed.owl bile duct adenocarcinoma DOID:4896|NCIT:C27813|UMLS:C1370800 owl:Class MONDO:0013140 biolink:NamedThing candidiasis, familial, 4 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene. tmpte7i6ely_mondo_relaxed.owl candidiasis, familial, 4|candidiasis, familial chronic mucocutaneous|CANDF4|familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|CLEC7A familial chronic mucocutaneous candidiasis|candidiasis, familial, type 4 OMIM:613108|Orphanet:1334|UMLS:C0341024|SCTID:235073000 owl:Class HGNC:14558 biolink:NamedThing CLEC7A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010619 biolink:NamedThing X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. tmpte7i6ely_mondo_relaxed.owl hypophosphatemic rickets, X-linked|rickets, vitamin D-resistant|HPDR|vitamin D-resistant rickets, X-linked|HYP|hereditary hypophosphatemic rickets, X-linked|XLHR|hypophosphatemic vitamin D-resistant rickets|XLH|X-linked hereditary hypophosphatemic rickets|X-linked hypophosphatemic rickets|hypophosphatemic rickets X-linked dominant|X-linked dominant hypophosphatemic rickets|X-linked hypophosphatemia|hypophosphatemia, X-linked|hypophophatemia, X-linked|hypophosphatemia, vitamin D-resistant rickets|hypophosphatemic rickets, X-linked dominant|hypophophatemic vitamin D-resistant rickets OMIM:307800|SCTID:82236004|DOID:0050445|ICD10:E83.3|OMIM:300554|ICD10:E83.31|GARD:0012943|Orphanet:89936 https://github.com/monarch-initiative/mondo/issues/2844 owl:Class HGNC:8918 biolink:NamedThing PHEX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015777 biolink:NamedThing adult hypothyroidism A hypothyroidism that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl rare adult hypothyroidism Orphanet:177101|UMLS:CN226738 https://github.com/monarch-initiative/mondo/issues/254 owl:Class UBERON:0003477 biolink:NamedThing vein of upper lip tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001834 biolink:NamedThing upper lip tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:22082 biolink:NamedThing VMA21 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001072 biolink:NamedThing posterior vena cava tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000154 biolink:NamedThing posterior region of body tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001917 biolink:NamedThing endothelium of artery tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19p biolink:NamedThing 19p (Human) tmpte7i6ely_mondo_relaxed.owl 26200000 0 hg38 owl:Class OBO:CHR_9606-chr19 biolink:NamedThing chromosome 19 (Human) tmpte7i6ely_mondo_relaxed.owl 19 58617616 0 hg38 owl:Class UBERON:0008876 biolink:NamedThing hypodermis skeletal muscle layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002072 biolink:NamedThing hypodermis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019186 biolink:NamedThing Q fever A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. tmpte7i6ely_mondo_relaxed.owl Coxiella burnetii disease or disorder|Q fever pneumonia|query fever|quadrilateral fever|Coxiella burnetii caused disease or disorder|Coxiellosis|nine Mile fever|Coxiella burnetii infectious disease|Coxiella burnetii fever|infection due to Coxiella burnetii Orphanet:781|UMLS:C0034362|SCTID:186788009|MedDRA:10037688|ICD9:083.0|DOID:11100|MedDRA:10037731|GARD:0007515|ICD10:A78|NCIT:C34970|EFO:0005224|MESH:D011778 https://rarediseases.info.nih.gov/diseases/7515/q-fever owl:Class HP:0002013 biolink:NamedThing Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. tmpte7i6ely_mondo_relaxed.owl Throwing up|Emesis|Vomiting UMLS:C0042963|SNOMEDCT_US:422400008|SNOMEDCT_US:300359004|MSH:D014839|SNOMEDCT_US:249497008|MEDDRA:10047700 human_phenotype owl:Class MONDO:0015528 biolink:NamedThing congenital epulis A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative. tmpte7i6ely_mondo_relaxed.owl gingival granular cell tumor|congenital epulis|congenital granular cell tumor|congenital Epulides|congenital gingival cell tumor|Neumann tumor UMLS:C0376319|SCTID:360525006|Orphanet:157826|MESH:D005887|DOID:7280|NCIT:C4675 owl:Class UBERON:0008826 biolink:NamedThing pulmonary surfactant tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000931 biolink:NamedThing proctodeum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006126 biolink:NamedThing cecum neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl carcinoid tumor of cecum|caecum NET G1|caecum neuroendocrine tumor, well differentiated, low grade|caecal carcinoid tumor|cecum carcinoid tumor|grade 1 neuroendocrine neoplasm of caecum|caecum neuroendocrine neoplasm G1|cecal carcinoid tumor|caecum carcinoid tumor|cecum neuroendocrine tumor G1|caecum carcinoid tumor (disease)|carcinoid tumor of the cecum|cecum NET G1 UMLS:C0854488|NCIT:C5501|EFO:1000154 owl:Class UBERON:0004264 biolink:NamedThing lower leg skin tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004252 biolink:NamedThing serine-type endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpte7i6ely_mondo_relaxed.owl blood coagulation factor activity|serine elastase activity owl:Class GO:0010893 biolink:NamedThing positive regulation of steroid biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006694 biolink:NamedThing steroid biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. tmpte7i6ely_mondo_relaxed.owl steroid biosynthesis|steroid anabolism|steroid formation|steroidogenesis|steroid synthesis owl:Class UBERON:0016548 biolink:NamedThing central nervous system gray matter layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001838 biolink:NamedThing acute gonococcal prostatitis Acute form of gonococcal prostatitis. tmpte7i6ely_mondo_relaxed.owl gonococcal prostatitis|acute gonococcal prostatitis|gonococcal prostatitis, acute|gonococcal prostatitis (acute) DOID:13943|ICD9:098.12|SCTID:111806005|UMLS:C0153192 owl:Class UBERON:0005269 biolink:NamedThing renal cortex vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009947 biolink:NamedThing glutathione synthetase deficiency with 5-oxoprolinuria tmpte7i6ely_mondo_relaxed.owl 5-oxoprolinuria|GSSD|pyroglutamic aciduria|glutathione synthetase deficiency SCTID:39112005|Orphanet:289846|ICD9:270.8|UMLS:C0398746|Orphanet:32|OMIM:266130|ICD10:D55.1 owl:Class HGNC:4624 biolink:NamedThing GSS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001891 biolink:NamedThing midbrain tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:30089 biolink:NamedThing acetate A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid. tmpte7i6ely_mondo_relaxed.owl ACETATE ION|MeCO2 anion|ethanoate|Azetat|Ethanoat|CH3-COO(-)|acetate|acetic acid, ion(1-) owl:Class CHEBI:15366 biolink:NamedThing acetic acid A simple monocarboxylic acid containing two carbons. tmpte7i6ely_mondo_relaxed.owl acide acetique|acetic acid|ethoic acid|INS No. 260|Essigsaeure|CH3-COOH|CH3CO2H|MeCOOH|Ethylic acid|Methanecarboxylic acid|HOAc|E260|Ethanoic acid|ACETIC ACID|AcOH|MeCO2H|E 260|Acetic acid|E-260 owl:Class OBO:CHR_9606-chr12p biolink:NamedThing 12p (Human) tmpte7i6ely_mondo_relaxed.owl 35500000 0 hg38 owl:Class NCBITaxon:570 biolink:NamedThing Klebsiella tmpte7i6ely_mondo_relaxed.owl Calymmatobacterium|Donovania|Hyalococcus PMID:12635932|PMID:10555350|PMID:11411716|GC_ID:11 NCBITaxon:39823 ncbi_taxonomy owl:Class PATO:0001824 biolink:NamedThing dry A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410017 biolink:NamedThing left colic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002084 biolink:NamedThing heart left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014259 biolink:NamedThing neuronopathy, distal hereditary motor, type 2D Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene. tmpte7i6ely_mondo_relaxed.owl neuronopathy, distal hereditary motor, type IID|HMN2D|neuronopathy, distal hereditary motor caused by mutation in FBXO38|HMN 2D|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|FBXO38 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, type 2D DOID:0111210|OMIM:615575|Orphanet:139525 owl:Class HGNC:28844 biolink:NamedThing FBXO38 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014228 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 8 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene. tmpte7i6ely_mondo_relaxed.owl Fuchs' endothelial dystrophy caused by mutation in AGBL1|AGBL1 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, type 8|FECD8|corneal dystrophy, Fuchs endothelial, 8 OMIM:615523|Orphanet:98974|UMLS:C3809798 owl:Class HGNC:26504 biolink:NamedThing AGBL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005672 biolink:NamedThing right lung endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002167 biolink:NamedThing right lung tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007808 biolink:NamedThing adipose tissue of abdominal region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012293 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 23 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|autosomal recessive nonsyndromic deafness 23|DFNB23|deafness, autosomal recessive type 23|deafness, autosomal recessive 23|autosomal recessive deafness 23|PCDH15 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 23 DOID:0110481|UMLS:C1836027|Orphanet:90636|ICD10:H90.3|MESH:C563705|OMIM:609533 owl:Class OBO:CHR_9606-chr16 biolink:NamedThing chromosome 16 (Human) tmpte7i6ely_mondo_relaxed.owl 16 90338345 0 hg38 owl:Class NCBITaxon:299467 biolink:NamedThing Leptotrombidium deliense tmpte7i6ely_mondo_relaxed.owl scrub typhus mite GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005299 biolink:NamedThing prepuce of clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015227 biolink:NamedThing non-syndromic limb malformation tmpte7i6ely_mondo_relaxed.owl isolated limb malformation|nonsyndromic limb malformation Orphanet:109011 owl:Class UBERON:0015060 biolink:NamedThing sphenoid endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004832 biolink:NamedThing anal region skeletal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000065 biolink:NamedThing respiratory tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007023 biolink:NamedThing adult organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. tmpte7i6ely_mondo_relaxed.owl adults owl:Class UBERON:0000113 biolink:NamedThing post-juvenile adult stage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019024 biolink:NamedThing mast cell sarcoma A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001) tmpte7i6ely_mondo_relaxed.owl sarcoma of mast cell|MCS|mast-cell sarcoma|MCSL|mast cell sarcoma ONCOTREE:MCSL|NCIT:C9348|EFO:1000364|DOID:355|MESH:D012515|UMLS:C0036221|ICD9:202.6|ICDO:9740/3|ICD10:C96.2|Orphanet:66661|SCTID:118615008 owl:Class ECTO:4000002 biolink:NamedThing exposure to increased salt A exposure event involving the interaction of an exposure receptor to increased amount of salt. tmpte7i6ely_mondo_relaxed.owl exposure to increased amount in salt owl:Class Nf1a06aed3f044b9ebadb8c638e95d9cb biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0005886 biolink:NamedThing plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpte7i6ely_mondo_relaxed.owl plasma membrane lipid bilayer|bacterial inner membrane|cellular membrane|juxtamembrane|cytoplasmic membrane|inner endospore membrane|plasmalemma|cell membrane owl:Class UBERON:0001557 biolink:NamedThing upper respiratory tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021537 biolink:NamedThing undifferentiated carcinoma of nasopharynx A undifferentiated carcinoma that involves the nasopharynx. tmpte7i6ely_mondo_relaxed.owl undifferentiated carcinoma of the nasopharynx|undifferentiated nasopharyngeal throat cancer|nasopharyngeal undifferentiated carcinoma|nasopharyngeal nonkeratinizing undifferentiated carcinoma|lymphoepithelioma of nasopharynx|nasopharynx undifferentiated carcinoma|nasopharyngeal lymphoepithelioma|lymphoepithelioma of the nasopharynx SCTID:422541001|NCIT:C8023|UMLS:C0279748 owl:Class UBERON:0035818 biolink:NamedThing visceral fat tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901532 biolink:NamedThing regulation of hematopoietic progenitor cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of haematopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation|regulation of haemopoietic progenitor cell differentiation owl:Class GO:0002244 biolink:NamedThing hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. tmpte7i6ely_mondo_relaxed.owl hemopoietic progenitor cell differentiation|haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation owl:Class UBERON:5106048 biolink:NamedThing digit 1 digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000960 biolink:NamedThing diabetic peripheral angiopathy Diabetic angiopathy is a form of angiopathy associated with diabetic complications. tmpte7i6ely_mondo_relaxed.owl diabetic angiopathy|diabetic vascular disorder SCTID:127014009|UMLS:C0011871|DOID:10182|ICD9:443.81|UMLS:C0011875|EFO:1000896|NCIT:C35610|MESH:D003925|DOID:11713|ICD9:250.7 owl:Class MONDO:0012517 biolink:NamedThing atypical Gaucher disease due to saposin C deficiency Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. tmpte7i6ely_mondo_relaxed.owl Gaucher disease, atypical|Gaucher disease caused by mutation in PSAP|atypical Gaucher's disease due to saposin c deficiency|atypical Gaucher disease due to saposin C deficiency|Gaucher disease, atypical, due to saposin C deficiency|PSAP Gaucher disease MESH:C566435|UMLS:C1864651|OMIM:610539|GARD:0012503|DOID:0110961|Orphanet:309252|Orphanet:355|ICD10:E75.2 owl:Class MONDO:0003769 biolink:NamedThing herpetic gastritis Gastritis resulting from herpes virus. tmpte7i6ely_mondo_relaxed.owl Herpesviridae caused viral gastritis|Herpesviridae viral gastritis UMLS:C1333996|DOID:6102|NCIT:C27341 owl:Class NCBITaxon:10292 biolink:NamedThing Herpesviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:8410019 biolink:NamedThing jejuno-ileal junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002108 biolink:NamedThing small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009337 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 1 Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene. tmpte7i6ely_mondo_relaxed.owl Hennekam lymphangiectasia-lymphedema syndrome|Hennekam syndrome caused by mutation in CCBE1|HKLLS1|CCBE1 Hennekam syndrome|lymphatic dysplasia, generalized|Hennekam lymphangiectasia-lymphedema syndrome type 1|Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510|UMLS:C0340834|Orphanet:2136|UMLS:C4012050 owl:Class HGNC:29426 biolink:NamedThing CCBE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005634 biolink:NamedThing acute hemorrhagic conjunctivitis Acute conjunctivitis that is characterized by bleeding into the conjunctiva. tmpte7i6ely_mondo_relaxed.owl viral conjunctivitis|epidemic hemorrhagic conjunctivitis|Apollo disease DOID:11227|NCIT:C34505|UMLS:C0009765|ICD9:077.4|SCTID:398264003|EFO:0007131|MESH:D003232 owl:Class CHEBI:30768 biolink:NamedThing propionic acid A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. tmpte7i6ely_mondo_relaxed.owl ethanecarboxylic acid|propioic acid|acide propionique|methylacetic acid|Propionsaeure|propanoic acid|acide propanoique|metacetonic acid|CH3-CH2-COOH|Propionic acid|pseudoacetic acid|Propanoic acid|ethylformic acid|PA|propoic acid|carboxyethane|PROPANOIC ACID|propionic acid owl:Class CHEBI:17272 biolink:NamedThing propionate The conjugate base of propionic acid; a key precursor in lipid biosynthesis. tmpte7i6ely_mondo_relaxed.owl pseudoacetate|propanoic acid, ion(1-)|CH3-CH2-COO(-)|propanoate|propanate|ethylformate|methylacetate|carboxylatoethane|ethanecarboxylate|propionate|EtCO2 anion|metacetonate owl:Class MONDO:0012687 biolink:NamedThing familial cavitary optic disc anomaly tmpte7i6ely_mondo_relaxed.owl CODA|familial CODA|cavitary optic DISC anomalies OMIM:611543|MESH:C566924|Orphanet:464760|UMLS:C1969063 owl:Class HGNC:7165 biolink:NamedThing MMP19 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000164 biolink:NamedThing primitive urogenital sinus tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000108 biolink:NamedThing 14-year-old human stage Adolescent stage that refers to an adolescent who is over 14 and under 15 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000107 biolink:NamedThing 13-year-old human stage Adolescent stage that refers to an adolescent who is over 13 and under 14 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014755 biolink:NamedThing skin creases, congenital symmetric circumferential, 2 tmpte7i6ely_mondo_relaxed.owl MAPRE2 multiple benign circumferential skin creases on limbs|skin creases, congenital symmetric circumferential, 2|skin creases, congenital symmetric circumferential, type 2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2|skin creases, congenital symmetric circumferential, 2; CSCSC2|CSCSC2 OMIM:616734 owl:Class HGNC:6891 biolink:NamedThing MAPRE2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012421 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 44 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. tmpte7i6ely_mondo_relaxed.owl ADCY1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 44|autosomal recessive nonsyndromic deafness 44|deafness, autosomal recessive 44|autosomal recessive deafness 44|autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|DFNB44|autosomal recessive nonsyndromic deafness type 44 ICD10:H90.3|UMLS:C1857809|OMIM:610154|DOID:0110501|MESH:C565716 owl:Class HGNC:232 biolink:NamedThing ADCY1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000333 biolink:NamedThing early congenital syphilis A congenital syphilis that is manifested between 0 and 2 years old. tmpte7i6ely_mondo_relaxed.owl Early congenital syphilis (less than 2 years) DOID:0050488|ICD9:090.2|SCTID:4359001|UMLS:C0275859 owl:Class HP:0000238 biolink:NamedThing Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. tmpte7i6ely_mondo_relaxed.owl Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly SNOMEDCT_US:230745008|UMLS:C0020255|MSH:D006849 Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. HP:0008503|HP:0007189 human_phenotype owl:Class MONDO:0014782 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2X Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. tmpte7i6ely_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|muscular dystrophy, limb-girdle, type 2x|LGMD2X|BVES autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES|muscular dystrophy, limb-girdle, type 2X OMIM:616812|UMLS:C4225199|Orphanet:476084|DOID:0110290 owl:Class HGNC:1152 biolink:NamedThing BVES tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011096 biolink:NamedThing lacrimal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000348 biolink:NamedThing ophthalmic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003125 biolink:NamedThing Reduced factor VIII activity Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpte7i6ely_mondo_relaxed.owl Factor VIII deficiency UMLS:C3494187|SNOMEDCT_US:234440005|UMLS:C4025649|MSH:D006467 HP:0008349|HP:0008355 human_phenotype owl:Class UBERON:0003691 biolink:NamedThing epidural space tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006692 biolink:NamedThing vertebral canal tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002719 biolink:NamedThing negative regulation of cytokine production involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. tmpte7i6ely_mondo_relaxed.owl negative regulation of cytokine biosynthetic process involved in immune response|negative regulation of cytokine production during immune response|down-regulation of cytokine production during immune response|downregulation of cytokine production during immune response|inhibition of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|down regulation of cytokine production during immune response owl:Class GO:0002367 biolink:NamedThing cytokine production involved in immune response The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl cytokine production during immune response|cytokine secretion involved in immune response|cytokine biosynthetic process involved in immune response|cytokine secretion during immune response owl:Class MONDO:0002664 biolink:NamedThing extrahepatic bile duct signet ring cell carcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct signet Ring cell carcinoma|signet Ring cell carcinoma of bile duct|bile duct signet ring cell carcinoma|signet Ring cell bile duct carcinoma|bile duct signet Ring cell carcinoma|signet Ring cell carcinoma of the bile duct UMLS:C0861859|DOID:3494|NCIT:C5776 owl:Class UBERON:0000988 biolink:NamedThing pons tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000825 biolink:NamedThing pro-NK cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. tmpte7i6ely_mondo_relaxed.owl natural killer cell progenitor|pro-natural killer cell|NKP|preNK cell|null cell Most markers only described for human pro NK cells. cell owl:Class HsapDv:0000112 biolink:NamedThing 18-year-old human stage Adolescent stage that refers to an adolescent who is over 18 and under 19 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004758 biolink:NamedThing serine C-palmitoyltransferase activity Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA. tmpte7i6ely_mondo_relaxed.owl 3-oxosphinganine synthetase activity|serine palmitoyltransferase|SPT|palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|acyl-CoA:serine C-2 acyltransferase decarboxylating owl:Class CL:0002559 biolink:NamedThing hair follicle cell An animal cell that is part of a hair follicle. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-01T04:11:01Z cell owl:Class MONDO:0014421 biolink:NamedThing glucocorticoid resistance tmpte7i6ely_mondo_relaxed.owl cortisol resistance from glucocorticoid receptor defect|Gcr deficiency|GCCR|Grl deficiency|glucocorticoid receptor deficiency|Gccr deficiency|glucocorticoid resistance, generalized Orphanet:786|ICD10:E25.8|MESH:C564221|OMIM:615962|GARD:0002499|UMLS:C1841972 https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance owl:Class HGNC:7978 biolink:NamedThing NR3C1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001811 biolink:NamedThing conjunctiva tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001644 biolink:NamedThing Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. tmpte7i6ely_mondo_relaxed.owl Stretched and thinned heart muscle|Congestive cardiomyopathy|DCM|Cardiomyopathy, dilated UMLS:C0007193|SNOMEDCT_US:399020009|MSH:D002311|Fyler:1843|SNOMEDCT_US:195021004 HP:0001725|HP:0005159|HP:0200130 human_phenotype owl:Class MONDO:0008862 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 2 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. tmpte7i6ely_mondo_relaxed.owl MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|MCC 2 deficiency|3 alpha methylcrotonylglycinuria 2|3-Methylcrotonyl-CoA carboxylase 2 deficiency|MCC2D|3-methylcrotonylglycinuria 2|3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|3-METHYLCROTONYL-CoA carboxylase 2 deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|methylcrotonylglycinuria, type 2|MCC2 deficiency|methylcrotonylglycinuria type 2 GARD:0009151|Orphanet:6|MESH:C535309|OMIM:210210|DOID:0080580 owl:Class HGNC:6937 biolink:NamedThing MCCC2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006524 biolink:NamedThing alveolar system tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0047291 biolink:NamedThing lactosylceramide alpha-2,3-sialyltransferase activity Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3. tmpte7i6ely_mondo_relaxed.owl ganglioside GM3 synthase activity|cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase|SAT 1|CMP-sialic acid:lactosylceramide-sialyltransferase activity|GM3 synthetase activity|CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity|CMP-acetylneuraminate-lactosylceramide-sialyltransferase|GM3 synthase activity|ganglioside GM3 synthetase activity|cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity|CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity owl:Class UBERON:0000178 biolink:NamedThing blood tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000232 biolink:NamedThing erythrocyte A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. tmpte7i6ely_mondo_relaxed.owl red blood cell|RBC FMA:81100|CALOHA:TS-0290|BTO:0000424 cell owl:Class UBERON:0011859 biolink:NamedThing internal acoustic meatus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001846 biolink:NamedThing internal ear tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011266 biolink:NamedThing myotonic dystrophy type 2 Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. tmpte7i6ely_mondo_relaxed.owl dystrophia myotonica type 2|proximal myotonic myopathy|proximal myotonic dystrophy|dystrophia myotonica 2|ricker disease|myotonic dystrophy caused by mutation in CNBP|DM2|myotonic dystrophy type 2|ricker syndrome|myotonic myopathy, proximal|CNBP myotonic dystrophy|PROMM|myotonic dystrophy 2 OMIM:602668|Orphanet:606|DOID:0050759|GARD:0009728|ICD10:G71.1|NCIT:C84680|ICD9:359.2|ICD10:G71.19 https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 owl:Class MONDO:0025485 biolink:NamedThing feline acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv). tmpte7i6ely_mondo_relaxed.owl Feline AIDS|Feline acquired immuno deficiency syndrome|Feline immunodeficiency virus caused cat disease|Feline acquired immune deficiency syndrome|AIDS, Feline|Feline immunodeficiency virus cat disease|Feline acquired immuno-deficiency syndrome|FAIDS UMLS:C0079335|MESH:D016181 Editor note: consider separate class for infectious disease owl:Class NCBITaxon:11673 biolink:NamedThing Feline immunodeficiency virus tmpte7i6ely_mondo_relaxed.owl FIV|feline immunodeficiency virus FIV GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004816 biolink:NamedThing larynx epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001737 biolink:NamedThing larynx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0036161 biolink:NamedThing calcitonin secretion The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020781 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 tmpte7i6ely_mondo_relaxed.owl PEBEL1|NAD(P)HX epimerase deficiency|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 Orphanet:555407|EFO:0009158|OMIM:617186 owl:Class HGNC:18453 biolink:NamedThing NAXE tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005881 biolink:NamedThing autopodial extension tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002371 biolink:NamedThing bone marrow tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002092 biolink:NamedThing bone marrow cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. tmpte7i6ely_mondo_relaxed.owl FMA:83621|BTO:0004850 MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. tmeehan 2010-07-22T04:48:15Z cell owl:Class GO:0031981 biolink:NamedThing nuclear lumen The volume enclosed by the nuclear inner membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005634 biolink:NamedThing nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. tmpte7i6ely_mondo_relaxed.owl cell nucleus|horsetail nucleus owl:Class MONDO:0014302 biolink:NamedThing hereditary spastic paraplegia 62 Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. tmpte7i6ely_mondo_relaxed.owl autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|SPG62|autosomal recessive spastic paraplegia 62|autosomal recessive spastic paraplegia type 62|hereditary spastic paraplegia type 62|spastic paraplegia 62, autosomal recessive|ERLIN1 autosomal recessive pure spastic paraplegia OMIM:615681|SCTID:765045003|UMLS:C4284588|DOID:0110813|ICD10:G11.4|Orphanet:401785 owl:Class MONDO:0024534 biolink:NamedThing Dowling-Degos disease 1 Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene. tmpte7i6ely_mondo_relaxed.owl DDD1|DDD|Dowling-Degos disease 1|KRT5 Dowling-Degos disease|Dowling-Degos disease caused by mutation in KRT5|reticular pigment anomaly of flexures Orphanet:79145|OMIM:179850|UMLS:C3714534 owl:Class UBERON:0001791 biolink:NamedThing inner nuclear layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003902 biolink:NamedThing retinal neural layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022874 biolink:NamedThing corpus callosum dysgenesis hypopituitarism tmpte7i6ely_mondo_relaxed.owl GARD:0001542 https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism owl:Class CHEBI:77941 biolink:NamedThing EC 3.5.1.4 (amidase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). tmpte7i6ely_mondo_relaxed.owl EC 3.5.1.4 (amidase) inhibitors|deaminase inhibitor|acylamide amidohydrolase inhibitors|acylamidase inhibitors|amidohydrolase inhibitors|fatty acylamidase inhibitors|deaminase inhibitors|N-acetylaminohydrolase inhibitor|fatty acylamidase inhibitor|amidohydrolase inhibitor|EC 3.5.1.4 inhibitor|amidase inhibitors|acylamide amidohydrolase inhibitor|amidase (EC 3.5.1.4) inhibitors|acylamidase inhibitor|N-acetylaminohydrolase inhibitors|amidase (EC 3.5.1.4) inhibitor|amidase inhibitor|EC 3.5.1.4 inhibitors owl:Class UBERON:0009958 biolink:NamedThing bladder lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001255 biolink:NamedThing urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005207 biolink:NamedThing tonsil capsule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002372 biolink:NamedThing tonsil tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19p13 biolink:NamedThing 19p13 (Human) tmpte7i6ely_mondo_relaxed.owl 19900000 0 hg38 owl:Class OBO:CHR_9606-chr3q13.3 biolink:NamedThing 3q13.3 (Human) tmpte7i6ely_mondo_relaxed.owl 122200000 113700000 hg38 owl:Class UBERON:0010252 biolink:NamedThing 1st arch mandibular mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007098 biolink:NamedThing mandibular neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005761 biolink:NamedThing filarial elephantiasis Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. tmpte7i6ely_mondo_relaxed.owl Bancroftian filariasis|Wuchereria Bancrofti infection|eyelid elephantiasis|Malayi tropical eosinphilia|Wuchereriasis|Bancroftian elephantiasis|elephantiasis|Bancroftian filarial chyluria|elephantiasis of eyelid Orphanet:2035|DOID:12211|ICD10:B74.1|SCTID:240820001|GARD:0003321|ICD10:B74.2|NCIT:C128360|ICD10:B74.0|MedDRA:10016675|EFO:0007272|MESH:D004605|SCTID:14100003|ICD9:374.83 owl:Class MONDO:0005424 biolink:NamedThing elephantiasis Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. tmpte7i6ely_mondo_relaxed.owl MESH:D004604|EFO:0004711|NCIT:C34569|DOID:4976|UMLS:C0013882 owl:Class MONDO:0000549 biolink:NamedThing cervical neuroblastoma A relatively uncommon neuroblastoma that is found in the neck. tmpte7i6ely_mondo_relaxed.owl neck neuroblastoma|neuroblastoma of neck DOID:0050935 owl:Class UBERON:0000974 biolink:NamedThing neck tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009064 biolink:NamedThing glutamine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpte7i6ely_mondo_relaxed.owl glutamine family amino acid metabolism owl:Class HGNC:10680 biolink:NamedThing SDHA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903061 biolink:NamedThing positive regulation of protein lipidation Any process that activates or increases the frequency, rate or extent of protein lipidation. tmpte7i6ely_mondo_relaxed.owl activation of lipid:protein modification|positive regulation of protein amino acid lipidation|upregulation of protein lipidation|positive regulation of lipid:protein modification|up regulation of protein lipidation|up-regulation of protein lipidation|upregulation of lipid:protein modification|up regulation of lipid:protein modification|activation of protein amino acid lipidation|upregulation of protein amino acid lipidation|activation of protein lipidation|up-regulation of protein amino acid lipidation|up regulation of protein amino acid lipidation|up-regulation of lipid:protein modification owl:Class MONDO:0014946 biolink:NamedThing Sifrim-Hitz-Weiss syndrome tmpte7i6ely_mondo_relaxed.owl Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome|Sifrim-Hitz-Weiss syndrome|Sifrim-Hitz-Weiss syndrome; SIHIWES UMLS:C4310688|OMIM:617159 owl:Class HGNC:1919 biolink:NamedThing CHD4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034720 biolink:NamedThing head taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001084 biolink:NamedThing skin of head tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019207 biolink:NamedThing chorioretinal region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010230 biolink:NamedThing eyeball of camera-type eye tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003591 biolink:NamedThing lobar bronchus connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004884 biolink:NamedThing lobar bronchus mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000092 biolink:NamedThing human middle aged stage Late adulthood that refers to an adult who is over 45 and under 65. tmpte7i6ely_mondo_relaxed.owl 45-64 years owl:Class HsapDv:0000091 biolink:NamedThing human late adulthood stage Adult stage that refers to an adult who is over 45. tmpte7i6ely_mondo_relaxed.owl 45+ years|Middle Aged + Aged owl:Class MONDO:0014503 biolink:NamedThing autosomal recessive spinocerebellar ataxia 17 Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia autosomal recessive type 17|autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1|CWF19L1 autosomal recessive congenital cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 17|spinocerebellar ataxia, autosomal recessive type 17|SCAR17|spinocerebellar ataxia, autosomal recessive 17|autosomal recessive cerebellar ataxia due to CWF19L1 deficiency DOID:0080064|Orphanet:453521|OMIM:616127|ICD10:G11.1|UMLS:C4015301 owl:Class HGNC:25613 biolink:NamedThing CWF19L1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012676 biolink:NamedThing autosomal recessive osteopetrosis 4 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|autosomal recessive osteopetrosis caused by mutation in CLCN7|OPTB4|autosomal recessive osteopetrosis type 4|CLCN7 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 4|osteopetrosis, autosomal recessive 4|osteopetrosis, infantile malignant 2|osteopetrosis, autosomal recessive type 4|osteopetrosis infantile malignant 2|CLCN7 autosomal recessive osteopetrosis|infantile malignant osteopetrosis 2 GARD:0005993|MESH:C566933|OMIM:611490|Orphanet:667|DOID:0110944 https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 owl:Class HGNC:2025 biolink:NamedThing CLCN7 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10q2 biolink:NamedThing 10q2 (Human) tmpte7i6ely_mondo_relaxed.owl 133797422 51100000 hg38 owl:Class OBO:CHR_9606-chr10q biolink:NamedThing 10q (Human) tmpte7i6ely_mondo_relaxed.owl 133797422 39800000 hg38 owl:Class UBERON:0000989 biolink:NamedThing penis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004876 biolink:NamedThing urogenital fold tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0040016 biolink:NamedThing embryonic cleavage The first few specialized divisions of an activated animal egg. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009790 biolink:NamedThing embryo development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. tmpte7i6ely_mondo_relaxed.owl embryonal development|embryogenesis|embryogenesis and morphogenesis owl:Class GO:0005929 biolink:NamedThing cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. tmpte7i6ely_mondo_relaxed.owl flagellum|eukaryotic flagellum|microtubule-based flagellum|primary cilium owl:Class GO:0050708 biolink:NamedThing regulation of protein secretion Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012859 biolink:NamedThing autosomal recessive osteopetrosis 7 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene. tmpte7i6ely_mondo_relaxed.owl osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7|OPTB7|osteopetrosis, autosomal recessive 7|osteopetrosis autosomal recessive 7|osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteopetrosis (disease) caused by mutation in TNFRSF11A|osteopetrosis osteoclast-poor with hypogammaglobulinemia|osteopetrosis, autosomal recessive type 7|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteopetrosis-hypogammaglobulinemia syndrome|TNFRSF11A osteopetrosis (disease) Orphanet:178389|ICD10:Q78.2|GARD:0010106|MESH:C567354|DOID:0110946|OMIM:612301|UMLS:C2676766 https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7 owl:Class HGNC:11908 biolink:NamedThing TNFRSF11A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002688 biolink:NamedThing regulation of leukocyte chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. tmpte7i6ely_mondo_relaxed.owl regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis owl:Class GO:0030595 biolink:NamedThing leukocyte chemotaxis The movement of a leukocyte in response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl leucocyte chemotaxis|immune cell chemotaxis owl:Class MONDO:0000520 biolink:NamedThing parietal lobe ependymal tumor An ependymal tumor affecting the parietal lobe of the brain. tmpte7i6ely_mondo_relaxed.owl parietal lobe ependymoma|ependymal tumor of parietal lobe|parietal lobe ependymal tumor NCIT:C131575|UMLS:C4330935|DOID:0050903 owl:Class MONDO:0022968 biolink:NamedThing dextrocardia with situs inversus Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. tmpte7i6ely_mondo_relaxed.owl situs inversus totalis GARD:0006268 https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus owl:Class MONDO:0015661 biolink:NamedThing dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. tmpte7i6ely_mondo_relaxed.owl dextrocardia (disease)|heart predominantly in right hemithorax|dextrocardia dextrocardia (disease) HP:0001651|NCIT:C84669|DOID:9565|MESH:D003914|SCTID:27637000|ICD9:746.87|ICD10:Q24.0|GARD:0001827|MedDRA:10012592|Orphanet:1666 owl:Class GO:0009100 biolink:NamedThing glycoprotein metabolic process The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpte7i6ely_mondo_relaxed.owl glycoprotein metabolism owl:Class UBERON:0010848 biolink:NamedThing radius-ulna cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29882 biolink:NamedThing ISCU tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008219 biolink:NamedThing cell death Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). tmpte7i6ely_mondo_relaxed.owl necrosis|accidental cell death owl:Class UBERON:0011679 biolink:NamedThing proximal tarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015082 biolink:NamedThing proximal tarsal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013838 biolink:NamedThing coenzyme Q10 deficiency, primary, 3 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. tmpte7i6ely_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 3|coenzyme Q10 deficiency, primary, type 3|PDSS2 coenzyme Q10 deficiency|coenzyme Q10 deficiency caused by mutation in PDSS2|COQ10D3 DOID:0070240|UMLS:C3553358|OMIM:614652|Orphanet:255249 owl:Class HGNC:23041 biolink:NamedThing PDSS2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007147 biolink:NamedThing lumen of midgut tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003853 biolink:NamedThing spinal cord neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013901 biolink:NamedThing spermatogenic failure 10 Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure type 10|spermatogenic failure 10|azoospermia caused by mutation in SEPT12|SEPT12 azoospermia|spermatogenic failure with defective sperm annulus|SPGF10 Orphanet:276234|DOID:0070178|UMLS:C3553793|OMIM:614822 owl:Class HGNC:26348 biolink:NamedThing SEPTIN12 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004473 biolink:NamedThing musculature of face tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001456 biolink:NamedThing face tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011445 biolink:NamedThing hereditary spastic paraplegia 11 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. tmpte7i6ely_mondo_relaxed.owl SPG11 hereditary spastic paraplegia|hereditary spastic paraplegia mental impairment and thin corpus callosum|Nakamura-Osame syndrome|Nakamura Osame syndrome|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|spastic paraplegia - intellectual deficit - thin corpus callosum|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|autosomal recessive spastic paraplegia type 11|hereditary spastic paraplegia type 11|hereditary spastic paraplegia caused by mutation in SPG11|autosomal recessive spastic paraplegia complicated with thin corpus callosum|autosomal recessive spastic paraplegia 11|SPG11|spastic paraplegia 11|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|spastic paraplegia 11, autosomal recessive|HSP-TCC|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum SCTID:715491000|GARD:0004919|DOID:0110764|NCIT:C148317|ICD10:G11.4|Orphanet:2822|OMIM:604360 owl:Class HGNC:11226 biolink:NamedThing SPG11 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008861 biolink:NamedThing pyloric gastric gland tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002104 biolink:NamedThing IgG-negative double negative memory B cell An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative. tmpte7i6ely_mondo_relaxed.owl IgG-negative double negative memory B lymphocyte|IgG- dn memory B-lymphocyte|IgG-negative dn memory B lymphocyte|IgG- double negative memory B-cell|IgG- dn memory B lymphocyte|IgG- dn memory B cell|IgG- dn memory B-cell|IgG-negative dn memory B-cell|IgG-negative double negative memory B-cell|IgG-negative dn memory B-lymphocyte|IgG- double negative memory B lymphocyte|IgG- double negative memory B-lymphocyte|IgG-negative dn memory B cell|IgG-negative double negative memory B-lymphocyte|IgG- double negative memory B cell cell owl:Class GO:0071735 biolink:NamedThing IgG immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpte7i6ely_mondo_relaxed.owl IgG2a|IgG3|IgG4|IgG1|IgG2b|IgG2c|IgG2 owl:Class MONDO:0032626 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 22 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22|MC1DN22 OMIM:618243 owl:Class HGNC:7684 biolink:NamedThing NDUFA10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007152 biolink:NamedThing arrhythmogenic right ventricular dysplasia 1 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, type 1|arrhythmogenic right ventricular cardiomyopathy 1|arrhythmogenic right ventricular dysplasia, familial, 1|Uhl anomaly|TGFB3 arrhythmogenic right ventricular cardiomyopathy|ARVC1|ARVD1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|cardiomyopathy, right ventricular dilated|arrhythmogenic right ventricular dysplasia type 1 UMLS:C1862511|Orphanet:217656|ICD10:Q24.8|Orphanet:3403|ICD10:I42.8|OMIM:107970|DOID:0110070 owl:Class HGNC:11769 biolink:NamedThing TGFB3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:39015 biolink:NamedThing apolipoprotein Protein component on the surface of lipoprotein. tmpte7i6ely_mondo_relaxed.owl apolipoproteins owl:Class UBERON:0001794 biolink:NamedThing inner limiting layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000127 biolink:NamedThing astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. tmpte7i6ely_mondo_relaxed.owl astrocytic glia FMA:54537|CALOHA:TS-0060|BTO:0000099 Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. cell owl:Class MONDO:0007453 biolink:NamedThing maturity-onset diabetes of the young type 2 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. tmpte7i6ely_mondo_relaxed.owl MODY glucokinase-related|MODY, type 2|MODY, glucokinase-related|maturity-onset diabetes of the young (disease) caused by mutation in GCK|MODY 2 monogenic diabetes type 2|glucokinase-associated diabetes mellitus|type 2 maturity-onset diabetes of the young|maturity-onset diabetes of the young, type 2|GCK maturity-onset diabetes of the young (disease)|GCK-associated diabetes mellitus|MODY2|maturity onset diabetes of the Young, type 2|diabetes mellitus MODY type 2|MODY type 2 DOID:0111100|OMIM:125851|SCTID:237604008|Orphanet:552|NCIT:C129741|GARD:0010657 https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2 owl:Class HGNC:4195 biolink:NamedThing GCK tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26270 biolink:NamedThing PIEZO2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005996 biolink:NamedThing trichuriasis An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. tmpte7i6ely_mondo_relaxed.owl trichocephaliasis|Trichuris trichiura infectious disease|whipworm disease|trichuriasis infection|Trichuris trichiura infection|infection by Trichuris trichura|whipworm infection|Trichuris trichiura caused disease or disorder|Trichuris trichiura disease or disorder EFO:0007524|SCTID:3752003|MESH:D014257|GARD:0010720|UMLS:C0040954|ICD10:B79|ICD9:127.3|DOID:1252|NCIT:C128399 https://rarediseases.info.nih.gov/diseases/10720/trichuriasis owl:Class MONDO:0010044 biolink:NamedThing hereditary spastic paraplegia 15 Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 15|autosomal recessive spastic paraplegia 15|recessive spastic paraplegia with retinal degeneration|hereditary spastic paraparesis type 15|autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|SPG15|hereditary spastic paraplegia type 15|Kjellin syndrome|spastic paraplegia 15, autosomal recessive|spastic paraplegia and retinal Degeneration|spastic paraplegia and retinal degeneration|autosomal recessive spastic paraplegia type 15|hereditary spastic paraplegia 15|ZFYVE26 autosomal recessive complex spastic paraplegia|spastic paraplegia-retinal degeneration syndrome DOID:0110768|OMIM:270700|ICD10:G11.4|UMLS:C1849128|SCTID:709417000|Orphanet:100996|MESH:C536642|GARD:0009581 owl:Class HGNC:20761 biolink:NamedThing ZFYVE26 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013067 biolink:NamedThing colorectal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012843 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 5 Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to childhood absence epilepsy 5|ECA5|childhood absence epilepsy caused by mutation in GABRB3|GABRB3 childhood absence epilepsy|epilepsy, childhood absence, susceptibility to, type 5|epilepsy, childhood absence, susceptibility to, 5 Orphanet:64280|OMIM:612269 owl:Class MONDO:0010826 biolink:NamedThing childhood absence epilepsy Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. tmpte7i6ely_mondo_relaxed.owl pyknolepsy|absence seizure|petit mal seizure ICD10:G40.3|NCIT:C50436|OMIM:612269|ICD10:G40.A|OMIM:607681|Orphanet:64280|OMIM:611942|DOID:1825|OMIM:611136|SCTID:50866000|OMIMPS:600131 owl:Class UBERON:0003112 biolink:NamedThing olfactory region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001703 biolink:NamedThing neurocranium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019221 biolink:NamedThing cytokine-mediated signaling pathway A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpte7i6ely_mondo_relaxed.owl cytokine mediated signalling pathway|cytokine and chemokine mediated signaling pathway owl:Class CL:0002631 biolink:NamedThing epithelial cell of upper respiratory tract tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-06-21T12:28:55Z cell owl:Class UBERON:0006930 biolink:NamedThing glandular cuboidal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011899 biolink:NamedThing epimysium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024341 biolink:NamedThing retinal cell neoplasm A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma. tmpte7i6ely_mondo_relaxed.owl retinal neural cell neoplasm|retinal cell tumor|retinal cell neoplasm UMLS:C1335765|NCIT:C7061 owl:Class UBERON:0002123 biolink:NamedThing cortex of thymus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:31923 biolink:NamedThing LCA5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008734 biolink:NamedThing adrenocortical carcinoma, hereditary An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl adrenocortical carcinoma, pediatric|adrenocortical carcinoma, hereditary|hereditary adrenal cortex carcinoma|ADCC UMLS:C1859972|OMIM:202300|Orphanet:1501 owl:Class MONDO:0012953 biolink:NamedThing colorectal cancer, susceptibility to, 10 Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. tmpte7i6ely_mondo_relaxed.owl colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, 10|CRCS10|POLD1 colorectal cancer|colorectal cancer, susceptibility to, on chromosome 19Q|colorectal cancer, susceptibility to, type 10|susceptibility to colorectal cancer 10 OMIM:612591 owl:Class MONDO:0012553 biolink:NamedThing cerebrooculofacioskeletal syndrome 2 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. tmpte7i6ely_mondo_relaxed.owl cerebrooculofacioskeletal syndrome type 2|cerebrooculofacioskeletal syndrome 2|COFS2|COFS syndrome caused by mutation in ERCC2|ERCC2 COFS syndrome UMLS:C1853102|Orphanet:191|OMIM:610756|MESH:C565185|Orphanet:1466 owl:Class HGNC:3434 biolink:NamedThing ERCC2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005219 biolink:NamedThing hindbrain subarachnoid space tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045015 biolink:NamedThing carbohydrate transport disease A disease that has its basis in the disruption of carbohydrate transport. tmpte7i6ely_mondo_relaxed.owl disorder of carbohydrate transport|carbohydrate transport disease UMLS:C0268173|SCTID:54905006 owl:Class UBERON:0000395 biolink:NamedThing cochlear ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002827 biolink:NamedThing vestibulocochlear ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013712 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 5 Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene. tmpte7i6ely_mondo_relaxed.owl pulmonary alveolar proteinosis 5|CSF2RB hereditary pulmonary alveolar proteinosis|surfactant metabolism dysfunction, pulmonary, 5|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|Csf2Rb deficiency|SMDP5|Pap due to Csf2Rb deficiency|surfactant metabolism dysfunction, pulmonary, type 5 UMLS:C3280574|Orphanet:264675|OMIM:614370 owl:Class HGNC:2436 biolink:NamedThing CSF2RB tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000267 biolink:NamedThing atmosphere An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012221 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. tmpte7i6ely_mondo_relaxed.owl Alpha-N-acetylgalactosaminidase deficiency, type 1|N-acetyl-alpha-D-galactosaminidase deficiency type III|neuroaxonal dystrophy, Schindler type|Schindler disease, type I|NAGA deficiency, type 3|Schindler disease, type 1|NAGA deficiency, type 1|Schindler disease, type 3|Schindler disease type 1|Alpha-N-acetylgalactosaminidase deficiency, type 3|Schindler disease type I|alpha-N-acetylgalactosaminidase deficiency, type 1|NAGA deficiency type 1 OMIM:609241|GARD:0003903|Orphanet:3137|Orphanet:79279|UMLS:C1836545|Orphanet:79281|GARD:0000116|ICD10:E77.1 owl:Class HGNC:7631 biolink:NamedThing NAGA tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000996 biolink:NamedThing human-directed construction process An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006560 biolink:NamedThing proline metabolic process The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. tmpte7i6ely_mondo_relaxed.owl proline metabolism owl:Class MONDO:0019084 biolink:NamedThing radiation proctitis Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis. tmpte7i6ely_mondo_relaxed.owl Orphanet:70475|MedDRA:10037766|ICD10:K62.7|SCTID:235760009|ICD9:569.49 owl:Class UBERON:0010708 biolink:NamedThing pectoral complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017933 biolink:NamedThing hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation ICD10:I42.2|UMLS:CN204073|Orphanet:324525 owl:Class SO:1000008 biolink:NamedThing point_mutation A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. tmpte7i6ely_mondo_relaxed.owl point mutation owl:Class MONDO:0001444 biolink:NamedThing Chagas disease A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. tmpte7i6ely_mondo_relaxed.owl Chagas-mazza disease|Chagas' disease|Trypanosoma cruzi caused disease or disorder|Chagas' disease with other organ involvement|infection caused by trypanosoma cruzi|infection by trypanosoma cruzi|Trypanosoma cruzi infectious disease|Chagas' disease with digestive system involvement|south American trypanosomiasis|Chagas' disease with nervous system involvement|American trypanosomiasis|Trypanosoma cruzi disease or disorder|Chagas disease UMLS:C0348782|ICD9:086.2|EFO:0008559|KEGG:05142|Orphanet:3386|UMLS:C0348781|NCIT:C84629|UMLS:C0153125|ICD10:B57.4|ICD10:B57.0|UMLS:C0041234|ICD10:B57.5|ICD10:B57.3|MedDRA:10001935|SCTID:77506005|ICD10:B57.2|DOID:12140|ICD10:B57.1|MESH:D014355|ICD10:B57 owl:Class NCBITaxon:5693 biolink:NamedThing Trypanosoma cruzi tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011339 biolink:NamedThing hereditary spastic paraplegia 8 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spastic paraplegia type 8|hereditary spastic paraplegia type 8|WASHC5 hereditary spastic paraplegia|spastic paraplegia 8, autosomal dominant|SPG8|spastic paraplegia 8|autosomal dominant spastic paraplegia 8|hereditary spastic paraplegia caused by mutation in WASHC5 UMLS:C1863704|ICD10:G11.4|Orphanet:100989|DOID:0110823|GARD:0009591|MESH:C580458|OMIM:603563 owl:Class HGNC:28984 biolink:NamedThing WASHC5 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000543 biolink:NamedThing atmospheric layer A layer that is part of the atmosphere. tmpte7i6ely_mondo_relaxed.owl atmospheric layering owl:Class GO:0002776 biolink:NamedThing antimicrobial peptide secretion The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001271 biolink:NamedThing pelvic girdle region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014375 biolink:NamedThing congenital diarrhea 7 with exudative enteropathy Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. tmpte7i6ely_mondo_relaxed.owl congenital chronic diarrhea with exudative enteropathy|congenital diarrhea caused by mutation in DGAT1|DGAT1 congenital diarrhea|congenital chronic diarrhea with protein-losing enteropathy|diarrhea type 7|diarrhea 7|DIAR7 OMIM:615863|Orphanet:329242|ICD10:P78.3|UMLS:C4014516|DOID:0060778 owl:Class HGNC:2843 biolink:NamedThing DGAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005749 biolink:NamedThing glomerular tuft tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001230 biolink:NamedThing glomerular capsule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003796 biolink:NamedThing rectum Kaposi sarcoma A Kaposi sarcoma arising from the rectum. tmpte7i6ely_mondo_relaxed.owl Kaposi's sarcoma of rectum|rectum Kaposi's sarcoma|Kaposi's sarcoma (disease) of rectum|rectum Kaposi sarcoma|rectal Kaposi sarcoma|Kaposi's sarcoma of the rectum|rectum Kaposi's sarcoma (disease)|rectal Kaposi's sarcoma NCIT:C5550|DOID:6190|UMLS:C1335681 owl:Class GO:0004601 biolink:NamedThing peroxidase activity Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O. tmpte7i6ely_mondo_relaxed.owl horseradish peroxidase (HRP)|heme peroxidase|verdoperoxidase|protoheme peroxidase|eosinophil peroxidase activity|lactoperoxidase activity|oxyperoxidase activity|bacterial catalase-peroxidase activity|japanese radish peroxidase|secretory plant peroxidase activity|guaiacol peroxidase|donor:hydrogen-peroxide oxidoreductase activity|MPO|pyrocatechol peroxidase|peroxidase reaction|myeloperoxidase activity|scopoletin peroxidase|extensin peroxidase|thiocyanate peroxidase owl:Class MONDO:0700034 biolink:NamedThing mosaic trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism. tmpte7i6ely_mondo_relaxed.owl trisomy 13 mosaicism http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0000465 biolink:NamedThing material anatomical entity Anatomical entity that has mass. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016269 biolink:NamedThing high-grade neuroendocrine carcinoma of the corpus uteri High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. tmpte7i6ely_mondo_relaxed.owl poorly differentiated neuroendocrine carcinoma of the corpus uteri|high-grade neuroendocrine carcinoma of the uterine corpus|poorly differentiated neuroendocrine carcinoma of the endometrium ICD10:C54.3|ICD10:C54.2|UMLS:CN201058|ICD10:C54.0|Orphanet:213731|ICD10:C54.1|ICD10:C54.8 owl:Class GO:0048513 biolink:NamedThing animal organ development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpte7i6ely_mondo_relaxed.owl organogenesis|development of an organ owl:Class UBERON:0001470 biolink:NamedThing glenohumeral joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006849 biolink:NamedThing scapula tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004789 biolink:NamedThing Lactose intolerance An inability to digest lactose. tmpte7i6ely_mondo_relaxed.owl Milk intolerance|Lactose intolerance SNOMEDCT_US:700094005|MSH:D007787|SNOMEDCT_US:267425008|UMLS:C0022951 human_phenotype owl:Class Ne8d681bf6f9f45618dc2837257b6f785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0013229 biolink:NamedThing eyelid gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005086 biolink:NamedThing hair follicle placode tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10q23 biolink:NamedThing 10q23 (Human) tmpte7i6ely_mondo_relaxed.owl 95300000 80300000 hg38 owl:Class UBERON:0002056 biolink:NamedThing inferior suprarenal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001184 biolink:NamedThing renal artery tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002564 biolink:NamedThing nucleus pulposus cell of intervertebral disc A connective tissue cell of the nucleus pulposus cell of intervertebral disc. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-02T02:12:23Z cell owl:Class UBERON:0002673 biolink:NamedThing vestibular nuclear complex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004681 biolink:NamedThing vestibular system tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8p11.2 biolink:NamedThing 8p11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 43200000 36700000 hg38 owl:Class OBO:CHR_9606-chr8p11 biolink:NamedThing 8p11 (Human) tmpte7i6ely_mondo_relaxed.owl 45200000 36700000 hg38 owl:Class MONDO:0009670 biolink:NamedThing lethal congenital contracture syndrome 1 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. tmpte7i6ely_mondo_relaxed.owl GLE1 lethal congenital contracture syndrome|Herva disease|Lccs|lethal congenital contracture syndrome type 1|LCCS1|lethal congenital contracture syndrome caused by mutation in GLE1|lethal congenital contracture syndrome 1|multiple contracture syndrome, Finnish type|lethal autosomal recessive syndrome of multiple congenital contractures OMIM:253310|UMLS:C1854664|GARD:0003227|Orphanet:1486|DOID:0060559|MESH:C537194|ICD10:Q68.8|SCTID:715418007 owl:Class HGNC:4315 biolink:NamedThing GLE1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003697 biolink:NamedThing abdominal wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014687 biolink:NamedThing temporal sulcus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001871 biolink:NamedThing temporal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008859 biolink:NamedThing cardiac gastric gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004996 biolink:NamedThing mucosa of cardia of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012869 biolink:NamedThing intellectual disability, autosomal dominant 22 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant type 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|chromosome 1Qter deletion syndrome|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|mental retardation, autosomal dominant 22|MRD22|intellectual disability, autosomal dominant 22|autosomal dominant intellectual disability 22|autosomal dominant mental retardation 22|autosomal dominant non-syndromic intellectual disability 22|chromosome 1Q43-q44 deletion syndrome|intellectual disability, autosomal dominant type 22 Orphanet:36367|DOID:0070052|UMLS:C3808184|OMIM:612337|MESH:C567346 owl:Class HGNC:13030 biolink:NamedThing ZBTB18 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001648 biolink:NamedThing vestibulocochlear nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002105 biolink:NamedThing vestibulo-auditory system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001231 biolink:NamedThing nephron tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003645 biolink:NamedThing metacarpal bone of digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002666 biolink:NamedThing pancreatic signet ring cell adenocarcinoma A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern. tmpte7i6ely_mondo_relaxed.owl pancreatic signet Ring cell carcinoma|pancreatic signet ring cell carcinoma|signet Ring cell carcinoma of pancreas|signet Ring cell carcinoma of the pancreas|pancreas signet ring cell carcinoma UMLS:C1335317|DOID:3497|NCIT:C5720 owl:Class UBERON:0001446 biolink:NamedThing fibula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013978 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 70 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 70|autosomal recessive nonsyndromic deafness type 70|deafness, autosomal recessive type 70|autosomal recessive nonsyndromic deafness 70|PNPT1 autosomal recessive nonsyndromic deafness|DFNB70|deafness, autosomal recessive 70|autosomal recessive nonsyndromic deafness caused by mutation in PNPT1 DOID:0110521|UMLS:C1824925|ICD10:H90.3|OMIM:614934 owl:Class HGNC:23166 biolink:NamedThing PNPT1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:83970 biolink:NamedThing cardiac glycoside Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles. tmpte7i6ely_mondo_relaxed.owl cardiac glycosides owl:Class CHEBI:77307 biolink:NamedThing cardioprotective agent Any protective agent that is able to prevent damage to the heart. tmpte7i6ely_mondo_relaxed.owl cardioprotective agents owl:Class MONDO:0010338 biolink:NamedThing X-linked distal spinal muscular atrophy type 3 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. tmpte7i6ely_mondo_relaxed.owl ATP7A-related distal motor neuropathy|SMAX3|X-linked dSMA type 3|spinal muscular atrophy, distal, X-linked 3|X-linked dHMN type 3|spinal muscular atrophy, distal, X-linked type 3|DSMAX|ATP7A spinal muscular atrophy|X-linked distal hereditary motor neuropathy type 3|spinal muscular atrophy, distal, X-linked recessive|spinal muscular atrophy caused by mutation in ATP7A|X-linked dSMA3|Dsmax|X-linked dHMN3 Orphanet:139557|MESH:C564506|UMLS:C1845359|OMIM:300489|SCTID:766764008|ICD10:G12.2|DOID:0111196 owl:Class GO:0033673 biolink:NamedThing negative regulation of kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl downregulation of kinase activity|kinase inhibitor|down regulation of kinase activity|down-regulation of kinase activity|inhibition of kinase activity owl:Class MONDO:0005494 biolink:NamedThing triple-negative breast carcinoma An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). tmpte7i6ely_mondo_relaxed.owl triple-negative breast cancer|triple-receptor negative breast cancer|triple-negative breast carcinoma DOID:0060081|NCIT:C71732|UMLS:C3539878|SCTID:706970001|MESH:D064726|EFO:0005537 owl:Class NCIT:C15493 biolink:NamedThing Estrogen Receptor Negative tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002268 biolink:NamedThing olfactory organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007568 biolink:NamedThing aortic aneurysm, familial thoracic 4 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. tmpte7i6ely_mondo_relaxed.owl FAA4|MYH11 familial thoracic aortic aneurysm and aortic dissection|AAT4|aortic aneurysm, familial thoracic type 4|aortic aneurysm, familial thoracic 4|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|aortic aneurysm/aortic dissection and patent ductus arteriosus MESH:C537784|OMIM:132900|Orphanet:91387|UMLS:C1851504|GARD:0009876 https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4 owl:Class HGNC:7569 biolink:NamedThing MYH11 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011265 biolink:NamedThing carpometacarpal joint of digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020690 biolink:NamedThing adult glioblastoma tmpte7i6ely_mondo_relaxed.owl adult glioblastoma multiforme|grade IV adult astrocytic tumor|glioblastoma|adult glioblastoma|grade IV adult astrocytic neoplasm NCIT:C9094 owl:Class UBERON:0001890 biolink:NamedThing forebrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006240 biolink:NamedThing future forebrain tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032940 biolink:NamedThing secretion by cell The controlled release of a substance by a cell. tmpte7i6ely_mondo_relaxed.owl cellular secretion owl:Class MONDO:0007265 biolink:NamedThing cardiofaciocutaneous syndrome 1 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene. tmpte7i6ely_mondo_relaxed.owl cardiofaciocutaneous syndrome caused by mutation in BRAF|BRAF cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome type 1|Cfcs|cardiofaciocutaneous syndrome 1|CFC syndrome|CFC1 UMLS:CN029449|Orphanet:1340|UMLS:C1275081|DOID:0111460|OMIM:115150 owl:Class HGNC:1097 biolink:NamedThing BRAF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013925 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblJ tmpte7i6ely_mondo_relaxed.owl combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ|cblJ defects|cobalamin J defect|methylmalonic aciduria with homocystinuria, type cblJ|methylmalonic aciduria and homocystinuria, cblJ type|MAHCJ|methylmalonic acidemia with homocystinuria type cblJ OMIM:614857|ICD10:E71.1|Orphanet:369955|Orphanet:26|UMLS:C3553915|GARD:0012621 https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj owl:Class HGNC:68 biolink:NamedThing ABCD4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011987 biolink:NamedThing cone-rod dystrophy 13 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy 13|CORD13|cone-rod dystrophy caused by mutation in RPGRIP1|RPGRIP1 cone-rod dystrophy|cone-rod dystrophy type 13 DOID:0111016|UMLS:C2750720|MESH:C567698|OMIM:608194 owl:Class UBERON:0000388 biolink:NamedThing epiglottis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004517 biolink:NamedThing ureter tuberculosis A tuberculosis that involves the ureter. tmpte7i6ely_mondo_relaxed.owl tuberculosis of ureter|ureter tuberculosis SCTID:81359005|ICD9:016.20|DOID:827|UMLS:C0152800|ICD9:016.2 owl:Class MONDO:0013002 biolink:NamedThing cone-rod dystrophy 9 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 9|ADAM9 cone-rod dystrophy|cone-rod dystrophy 9|cone-rod dystrophy caused by mutation in ADAM9|CORD9 OMIM:612775|DOID:0111020|UMLS:C1423873 owl:Class HGNC:216 biolink:NamedThing ADAM9 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006096 biolink:NamedThing glycolytic process The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. tmpte7i6ely_mondo_relaxed.owl modifed Embden-Meyerhof pathway|glycolysis|Embden-Meyerhof pathway|Embden-Meyerhof-Parnas pathway|anaerobic glycolysis owl:Class GO:0004619 biolink:NamedThing phosphoglycerate mutase activity Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. tmpte7i6ely_mondo_relaxed.owl phosphoglycerate phosphomutase activity|monophosphoglyceromutase activity|diphosphoglycomutase|PGA mutase activity|phosphoglyceromutase activity|PGM|GriP mutase|MPGM|PGAM activity|D-phosphoglycerate 2,3-phosphomutase activity|bisphosphoglyceromutase|monophosphoglycerate mutase activity owl:Class MONDO:0015024 biolink:NamedThing ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12|ECTD12|ectodermal dysplasia syndrome caused by mutation in KDF1|ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|KDF1 ectodermal dysplasia syndrome UMLS:C4310616|DOID:0111652|OMIM:617337 owl:Class HGNC:26624 biolink:NamedThing KDF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6696 biolink:NamedThing LRP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011176 biolink:NamedThing intestinal hypomagnesemia 1 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. tmpte7i6ely_mondo_relaxed.owl hypomagnesemic tetany|HOMG1|familial primary hypomagnesemia caused by mutation in TRPM6|TRPM6 familial primary hypomagnesemia|hypomagnesemia with secondary hypocalcemia|primary hypomagnesemia caused by mutation in TRPM6|TRPM6 primary hypomagnesemia|PHSH|intestinal hypomagnesemia with secondary hypocalcemia|hypomagnesemia 1, intestinal|hypomagnesemia caused by selective magnesium malabsorption|Homg|primary hypomagnesemia with secondary hypocalcemia|hypomagnesemia, intestinal, with secondary hypocalcemia|hypomagnesemia intestinal type 1|intestinal hypomagnesemia type 1|HSH UMLS:C1865974|MESH:C566593|SCTID:190856003|DOID:0060883|OMIM:602014|Orphanet:30924|ICD10:E83.4|GARD:0013072 owl:Class HGNC:17995 biolink:NamedThing TRPM6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011764 biolink:NamedThing autosomal dominant Parkinson disease 8 Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene. tmpte7i6ely_mondo_relaxed.owl Parkinson disease 8, autosomal dominant|autosomal dominant Parkinson's disease 8|autosomal dominant Parkinson disease type 8|autosomal dominant Parkinson disease 8|PARK8|Parkinson disease caused by mutation in LRRK2|LRRK2 Parkinson disease UMLS:C1846862|DOID:0060371|OMIM:607060|Orphanet:411602 owl:Class HGNC:18618 biolink:NamedThing LRRK2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008715 biolink:NamedThing muscle tissue of prostate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014713 biolink:NamedThing porokeratosis 9, multiple types Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene. tmpte7i6ely_mondo_relaxed.owl POROK9|porokeratosis 9, multiple types|porokeratosis (disease) caused by mutation in FDPS|FDPS porokeratosis (disease)|porokeratosis 9, multiple types; POROK9 OMIM:616631|UMLS:C4225262 owl:Class HGNC:3631 biolink:NamedThing FDPS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015150 biolink:NamedThing dorsal hair tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001137 biolink:NamedThing dorsum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014118 biolink:NamedThing congenital neutropenia-myelofibrosis-nephromegaly syndrome tmpte7i6ely_mondo_relaxed.owl congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome|neutropenia, severe congenital, 5, autosomal recessive|SCN5|vps45 deficiency Orphanet:369852|OMIM:615285|UMLS:C3809031|ICD10:D70 owl:Class UBERON:0001007 biolink:NamedThing digestive system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004288 biolink:NamedThing skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001993 biolink:NamedThing multicellular A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C12736 biolink:NamedThing Intestine tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000983 biolink:NamedThing technosphere A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000817 biolink:NamedThing biosphere A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014258 biolink:NamedThing congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome tmpte7i6ely_mondo_relaxed.owl asparagine synthetase deficiency|Asns deficiency|ASNSD|congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome UMLS:C3809971|Orphanet:391376|OMIM:615574|ICD10:E72.8 owl:Class HGNC:753 biolink:NamedThing ASNS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011507 biolink:NamedThing diabetes mellitus, congenital autoimmune tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, congenital autoimmune MESH:C565730|OMIM:605026|UMLS:C1857958 owl:Class UBERON:0000081 biolink:NamedThing metanephros tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000066 biolink:NamedThing fully formed stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. tmpte7i6ely_mondo_relaxed.owl fully formed animal stage|juvenile-adult stage|adult stage owl:Class MONDO:0008513 biolink:NamedThing synpolydactyly type 1 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene. tmpte7i6ely_mondo_relaxed.owl SD2, Vordingborg type|synpolydactyly with foot anomalies|syndactyly, type 2|SPD, Vordingborg type|SPD1|synpolydactyly 1|HOXD13 non-syndromic synpolydactyly|SD2a|synpolydactyly, Vordingborg type|non-syndromic synpolydactyly caused by mutation in HOXD13|synpolydactyly type 1 ICD10:Q70.2|Orphanet:93403|ICD10:Q70.0|OMIM:186000|Orphanet:295195|UMLS:CN203278 Editors note: check whether is_a: MONDO:0019683 is appropriate owl:Class UBERON:0004810 biolink:NamedThing nephron tubule epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016880 biolink:NamedThing future nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010850 biolink:NamedThing Tessier number 4 facial cleft tmpte7i6ely_mondo_relaxed.owl facial clefting, oblique, 1|oculomaxillofacial dysplasia with oblique Facial clefts|facial clefting, oblique, type 1|OBLFC1 UMLS:C1838348|ICD10:Q18.8|Orphanet:141258|OMIM:600251 owl:Class HGNC:29022 biolink:NamedThing SPECC1L tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002597 biolink:NamedThing smooth muscle cell of bladder A smooth muscle cell of the bladder. tmpte7i6ely_mondo_relaxed.owl KUPO:0001122 tmeehan 2011-03-06T05:43:24Z cell owl:Class HGNC:21042 biolink:NamedThing NUS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009431 biolink:NamedThing hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. tmpte7i6ely_mondo_relaxed.owl hypophosphatemic hypercalciuric rickets|hypercalciuric rickets|hypophosphatemic rickets with hypercalciuria, hereditary|HHRH|hypercalciuric hypophosphatemic rickets DOID:0050947|SCTID:237891005|MESH:C562793|Orphanet:157215|ICD10:E83.3|NCIT:C131450|OMIM:241530|UMLS:C1853271 owl:Class HP:0002150 biolink:NamedThing Hypercalciuria tmpte7i6ely_mondo_relaxed.owl Elevated urine calcium levels|Hypercalcinuria UMLS:C0020438|MSH:D053565|SNOMEDCT_US:71938000 human_phenotype owl:Class UBERON:0006321 biolink:NamedThing superior oblique extraocular muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005081 biolink:NamedThing ureter ureteric bud tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:40674 biolink:NamedThing Mammalia tmpte7i6ely_mondo_relaxed.owl mammals GC_ID:1 ncbi_taxonomy owl:Class ENVO:01000648 biolink:NamedThing magma Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000639 biolink:NamedThing planetary structural layer A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018489 biolink:NamedThing autoimmune encephalopathy with parasomnia and obstructive sleep apnea Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. tmpte7i6ely_mondo_relaxed.owl anti-IgLON5 disease|anti-IgLON5 syndrome ICD10:G04.8|Orphanet:420789|UMLS:CN237490|SCTID:765751002 owl:Class HP:0025234 biolink:NamedThing Parasomnia An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. tmpte7i6ely_mondo_relaxed.owl 2016-12-14 11:50:48+00:00 HPO:probinson human_phenotype owl:Class MONDO:0010969 biolink:NamedThing cone-rod dystrophy 5 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy 5|CORD5|cone-rod dystrophy type 5|PITPNM3 cone-rod dystrophy|cone-rod dystrophy caused by mutation in PITPNM3 DOID:0111010|MESH:C563415|UMLS:C1832976|GARD:0010655|OMIM:600977 https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5 owl:Class HGNC:21043 biolink:NamedThing PITPNM3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014607 biolink:NamedThing developmental and epileptic encephalopathy, 32 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 32|EIEE32|epileptic encephalopathy, early infantile, type 32|early infantile epileptic encephalopathy caused by mutation in KCNA2|KCNA2 early infantile epileptic encephalopathy|DEE32 DOID:0080416|UMLS:C4225350|OMIM:616366 owl:Class HGNC:6220 biolink:NamedThing KCNA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013986 biolink:NamedThing combined oxidative phosphorylation defect type 14 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene. tmpte7i6ely_mondo_relaxed.owl FARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 14|combined oxidative phosphorylation deficiency type 14|combined oxidative phosphorylation deficiency caused by mutation in FARS2|COXPD14 UMLS:C3554168|DOID:0111477|ICD10:E88.8|OMIM:614946|Orphanet:319519 owl:Class HGNC:21062 biolink:NamedThing FARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013553 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 2 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency-centromeric instability-facial anomalies syndrome 2|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24|immunodeficiency-centromeric instability-facial anomalies syndrome type 2|ICF syndrome 2|immunodeficiency-centromeric instability-Facial anomalies syndrome type 2|ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome|ICF2 OMIM:614069|UMLS:C3279748|ICD10:D84.8|Orphanet:2268|DOID:0090009 owl:Class HGNC:21143 biolink:NamedThing ZBTB24 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014064 biolink:NamedThing mitochondrial complex III deficiency nuclear type 3 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene. tmpte7i6ely_mondo_relaxed.owl MC3DN3|mitochondrial Complex 3 deficiency, nuclear type 3|mitochondrial complex III deficiency, nuclear type 3|mitochondrial complex III deficiency caused by mutation in UQCRB|UQCRB mitochondrial complex III deficiency Orphanet:1460|UMLS:C3554606|OMIM:615158|DOID:0080112 owl:Class MONDO:0100361 biolink:NamedThing lip herpes simplex type 1 infectious disorder Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis). tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0013550 biolink:NamedThing distal myopathy with posterior leg and anterior hand involvement Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. tmpte7i6ely_mondo_relaxed.owl Williams distal myopathy|myopathy, distal, 4|distal ABD-filaminopathy|myopathy, distal, type 4|MPD4 SCTID:733489002|Orphanet:63273|ICD10:G71.0|UMLS:C3279722|UMLS:C4518807|OMIM:614065 owl:Class HGNC:3756 biolink:NamedThing FLNC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100112 biolink:NamedThing acyl-CoA binding domain containing protein 5 deficiency A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. tmpte7i6ely_mondo_relaxed.owl acyl-CoA binding domain containing protein 5 deficiency|ACBD5 deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:23338 biolink:NamedThing ACBD5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005794 biolink:NamedThing Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. tmpte7i6ely_mondo_relaxed.owl Golgi complex|Golgi|Golgi ribbon owl:Class GO:0012505 biolink:NamedThing endomembrane system A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001783 biolink:NamedThing optic disc tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11082 biolink:NamedThing West Nile virus tmpte7i6ely_mondo_relaxed.owl WNV GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035804 biolink:NamedThing future mouth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005654 biolink:NamedThing ascariasis An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. tmpte7i6ely_mondo_relaxed.owl Ascaris lumbricoides infectious disease|Ascaris lumbricoides caused disease or disorder|Ascaris lumbricoides disease or disorder|Ascaris lumbricoides infection|ascariasis - roundworm DOID:456|CSP:1248-7284|SCTID:2435008|EFO:0007154|NCIT:C128392|MESH:D001196|UMLS:C0003950|ICD10:B77.9|ICD10:B77|ICD9:127.0 owl:Class CHEBI:36359 biolink:NamedThing phosphorus oxoacid derivative tmpte7i6ely_mondo_relaxed.owl phosphorus oxoacid derivative owl:Class CHEBI:33457 biolink:NamedThing phosphorus oxoacid A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons. tmpte7i6ely_mondo_relaxed.owl phosphorus oxoacid|oxoacids of phosphorus|Oxosaeure des Phosphors|phosphorus oxoacids owl:Class MONDO:0021311 biolink:NamedThing malignant tumor of parathyroid gland A cancer that involves the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the parathyroid|malignant neoplasm of the parathyroid|parathyroid cancer|malignant parathyroid neoplasm|parathyroid gland cancer|malignant neoplasm of the parathyroid gland|malignant parathyroid tumor|malignant parathyroid gland tumor|malignant tumor of parathyroid|malignant tumor of the parathyroid gland|malignant neoplasm of parathyroid gland|cancer of parathyroid gland|malignant neoplasm of parathyroid|malignant parathyroid gland neoplasm SCTID:363481002|NCIT:C9322|ICD9:194.1|ONCOTREE:PTH owl:Class UBERON:0001132 biolink:NamedThing parathyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012130 biolink:NamedThing myofibrillar myopathy 2 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpte7i6ely_mondo_relaxed.owl myopathy, myofibrillar, alpha-B crystallin-related|MFM2|myopathy, myofibrillar, 2|alpha-B crystallinopathy|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, type 2|myofibrillar myopathy type 2|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|autosomal dominant distal myopathy caused by mutation in CRYAB|late-onset distal crystallinopathy|CRYAB autosomal dominant distal myopathy|myopathy, desmin-related, associated with mutation in the Cryab Gene ICD10:G71.0|DOID:0080093|Orphanet:98910|MESH:C563848|OMIM:608810|Orphanet:399058|UMLS:C1837317 owl:Class HGNC:2389 biolink:NamedThing CRYAB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005753 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the mitochondrial membrane. tmpte7i6ely_mondo_relaxed.owl mitochondrial respiratory chain complex V owl:Class GO:0048817 biolink:NamedThing negative regulation of hair follicle maturation Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation. tmpte7i6ely_mondo_relaxed.owl down-regulation of hair follicle maturation|down regulation of hair follicle maturation|inhibition of hair follicle maturation|downregulation of hair follicle maturation owl:Class GO:0048820 biolink:NamedThing hair follicle maturation A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011001 biolink:NamedThing Increased bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. tmpte7i6ely_mondo_relaxed.owl Increased bone density|Osteosclerosis|Osteosclerosis of bones|Increased bone mineral density SNOMEDCT_US:49347007|UMLS:C0029464|MSH:D010026 This term may be merged with Increased bone density in the future or made obsolete. sdoelken 2011-02-13T11:57:32Z HP:0002796|HP:0005741|HP:0004350|HP:0010738|HP:0005711 human_phenotype owl:Class HGNC:25360 biolink:NamedThing DDX59 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000459 biolink:NamedThing noradrenergic cell A cell capable of producting norepiniphrine. Norepiniphrine is a catecholamine with multiple roles including as a hormone and a neurotransmitter. In addition, epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme. tmpte7i6ely_mondo_relaxed.owl norepinephrine secreting cell|noradrenaline secreting cell|norepinephrin secreting cell cell owl:Class CL:0000133 biolink:NamedThing neurectodermal cell Ectoderm destined to be nervous tissue. tmpte7i6ely_mondo_relaxed.owl neurectoderm cell cell owl:Class MONDO:0015264 biolink:NamedThing cryptogenic organizing pneumonia Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. tmpte7i6ely_mondo_relaxed.owl idiopathic bronchiolitis obliterans organizing pneumonia|cryptogenic organizing pneumonitis|COP|bronchiolitis obliterans organizing pneumonia|idiopathic BOOP|idiopathic bronchiolitis obliterans with organizing pneumonia UMLS:C0242770|GARD:0001620|Orphanet:1302|MESH:D018549|EFO:1001300|SCTID:719218000|NCIT:C62586|ICD10:J84.116|ICD9:516.36|ICD10:J84.1|DOID:0050157 owl:Class HP:0003674 biolink:NamedThing Onset The age group in which disease manifestations appear. tmpte7i6ely_mondo_relaxed.owl Age symptoms begin|Age of onset MSH:D017668|UMLS:C0206132 Adolescent is defined by WHO as a person between 10-19 years of age. HP:0011007|HP:0003602|HP:0003628|HP:0003618|HP:0003663|HP:0003630|HP:0003603|HP:0003588|HP:0003668|HP:0003626|HP:0003597|HP:0003664|HP:0003590 human_phenotype owl:Class ENVO:00000020 biolink:NamedThing lake A body of water or other liquid of considerable size contained in a depression on a landmass. tmpte7i6ely_mondo_relaxed.owl mere|loch|pasteuer lake|mortlake|llyn|lochan|broad|tarn|lough|open water|catch basin owl:Class Na2646056f015476398d8b330ad3d3544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021379 biolink:NamedThing neoplasm of epicardium A neoplasm (disease) that involves the epicardium. tmpte7i6ely_mondo_relaxed.owl epicardium tumor|epicardium neoplasm|neoplasm of epicardium|neoplasm of the epicardium|epicardium neoplasm (disease)|epicardial neoplasm|tumor of epicardium|tumor of the epicardium|epicardial tumor UMLS:C1290403|ICD9:239.89|SCTID:126733004|NCIT:C5347 owl:Class UBERON:0001818 biolink:NamedThing tarsal gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016116 biolink:NamedThing carotenoid metabolic process The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail. tmpte7i6ely_mondo_relaxed.owl carotenoid metabolism owl:Class MONDO:0012233 biolink:NamedThing Li-Fraumeni syndrome 2 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene. tmpte7i6ely_mondo_relaxed.owl LFS2|Li-Fraumeni syndrome type 2|Li-Fraumeni syndrome caused by mutation in CHEK2|Li-Fraumeni syndrome 2|CHEK2 Li-Fraumeni syndrome OMIM:609265|MESH:C563755|UMLS:C1836482|Orphanet:524|DOID:0111504 owl:Class HGNC:16627 biolink:NamedThing CHEK2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050886 biolink:NamedThing endocrine process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpte7i6ely_mondo_relaxed.owl endocrine physiological process|endocrine physiology owl:Class CL:0002433 biolink:NamedThing CD69-positive, CD4-positive single-positive thymocyte A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpte7i6ely_mondo_relaxed.owl intermediate CD4-single-positive|T.4SP69+.Th tmeehan 2010-10-21T02:46:02Z cell owl:Class MONDO:0007599 biolink:NamedThing factor 9 and Factor XI, combined deficiency of tmpte7i6ely_mondo_relaxed.owl multiple coagulation Factor deficiency 6|factor IX and factor XI, combined deficiency OF|familial multiple coagulation Factor deficiency 6 UMLS:C1851374|OMIM:134540|MESH:C565022 owl:Class HP:0001929 biolink:NamedThing Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. tmpte7i6ely_mondo_relaxed.owl Factor XI deficiency|Low factor XI activity SNOMEDCT_US:49762007|UMLS:C0015523|MSH:D005173 human_phenotype owl:Class MONDO:0023230 biolink:NamedThing Ghose-Sachdev-Kumar syndrome tmpte7i6ely_mondo_relaxed.owl bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma MESH:C537803|GARD:0002467|UMLS:C2974016 https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome owl:Class UBERON:0005281 biolink:NamedThing ventricular system of central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001012 biolink:NamedThing lithometeor A meteor which is primarily composed of rock. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018258 biolink:NamedThing Angora hair nevus tmpte7i6ely_mondo_relaxed.owl Schauder syndrome ICD10:Q82.5|Orphanet:370039|UMLS:CN204833 owl:Class GO:0070130 biolink:NamedThing negative regulation of mitochondrial translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl negative regulation of mitochondrial protein anabolism|negative regulation of mitochondrial protein biosynthesis|negative regulation of mitochondrial protein synthesis|negative regulation of mitochondrial protein formation owl:Class GO:0032543 biolink:NamedThing mitochondrial translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. tmpte7i6ely_mondo_relaxed.owl mitochondrial protein anabolism|mitochondrial protein synthesis|mitochondrial protein biosynthesis|mitochondrial protein translation|mitochondrial protein formation owl:Class GO:0050968 biolink:NamedThing detection of chemical stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a chemical stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl sensory transduction of chemical stimulus during perception of pain|perception of pain, sensory detection of chemical stimulus|perception of pain, detection of chemical stimulus|sensory detection of chemical stimulus during perception of pain|chemical nociception|perception of pain, sensory transduction of chemical stimulus owl:Class GO:0019233 biolink:NamedThing sensory perception of pain The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl perception of physiological pain|nociception owl:Class MONDO:0009609 biolink:NamedThing methylcobalamin deficiency type cblG Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. tmpte7i6ely_mondo_relaxed.owl methylcobalamin deficiency, cblG type|HMAG|methylcobalamin deficiency Cbl G type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|cblG|methionine synthase deficiency|functional methionine synthase deficiency type cblG|homocystinuria due to defect in methylation Cbl g|methylmalonic aciduria and homocystinuria type cblG|homocystinuria-megaloblastic anemia, cblG complementation type|methylcobalamin deficiency type cblG SCTID:721187005|Orphanet:622|OMIM:250940|EFO:0005597|GARD:0003577|GARD:0002733|Orphanet:2170|DOID:0050733|ICD10:E72.1 https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type owl:Class HGNC:7468 biolink:NamedThing MTR tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10313 biolink:NamedThing RPL21 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000058 biolink:NamedThing chondroblast Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell. tmpte7i6ely_mondo_relaxed.owl chrondoplast FMA:66783|BTO:0003607 cell owl:Class MONDO:8000012 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 tmpte7i6ely_mondo_relaxed.owl neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|IMNEPD OMIM:616263|UMLS:C4015728|Orphanet:456312 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000050 biolink:NamedThing megakaryocyte-erythroid progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. tmpte7i6ely_mondo_relaxed.owl colony forming unit erythroid megakaryocyte|CFU-EM|megakaryocyte/erythrocyte progenitor|Meg/E progenitor|CFU-MegE|MEP|megakaryocyte/erythroid progenitor cell MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. cell owl:Class GO:0030218 biolink:NamedThing erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. tmpte7i6ely_mondo_relaxed.owl red blood cell differentiation|erythropoiesis|RBC differentiation|erythrocyte cell differentiation owl:Class HGNC:403 biolink:NamedThing ALDH3A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010239 biolink:NamedThing lissencephaly type 1 due to doublecortin gene mutation Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. tmpte7i6ely_mondo_relaxed.owl XLIS|LISX|Xlis|Double cortex syndrome|X-linked lissencephaly type 1|lissencephaly type 1 due to doublecortin gene mutation|subcortical band heterotopia, X-linked|lissencephaly, X-linked, 1|subcortical laminar heterotopia, X-linked|LISX1|subcortical laminar heterotopia, X-linked,|X-linked lissencephaly|lissencephaly and agenesis of corpus callosum|Dc syndrome|lissencephaly X-linked|lissencephaly, X-linked, type 1 ICD10:Q04.3|UMLS:C1848199|UMLS:C4275012|GARD:0006914|OMIM:300067|SCTID:715780008|UMLS:C1848201|Orphanet:99796|Orphanet:2148 https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked owl:Class HGNC:2714 biolink:NamedThing DCX tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003218 biolink:NamedThing ovary septum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000992 biolink:NamedThing ovary tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010134 biolink:NamedThing secretory circumventricular organ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000949 biolink:NamedThing endocrine system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009728 biolink:NamedThing nephronophthisis 1 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. tmpte7i6ely_mondo_relaxed.owl NPHP1|NPH1|nephronophthisis (disease) caused by mutation in NPHP1|nephronophthisis, familial juvenile|juvenile nephronophthisis|nephronophthisis type 1|familial juvenile nephronophthisis|nephronophthisis 1|NPHP1 nephronophthisis (disease)|juvenile nephronophthisis 1|Nph1 MESH:C537699|DOID:0111112|OMIM:615382|UMLS:C1855681|ICD10:Q61.5|OMIM:256100|SCTID:444830001|Orphanet:93592|NCIT:C74998|UMLS:CN205459|Orphanet:655 owl:Class HGNC:7905 biolink:NamedThing NPHP1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032729 biolink:NamedThing positive regulation of interferon-gamma production Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpte7i6ely_mondo_relaxed.owl up-regulation of interferon-gamma production|positive regulation of interferon-gamma biosynthetic process|positive regulation of type II interferon production|activation of interferon-gamma production|stimulation of interferon-gamma production|positive regulation of interferon-gamma secretion|up regulation of interferon-gamma production|upregulation of interferon-gamma production owl:Class GO:0032609 biolink:NamedThing interferon-gamma production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. tmpte7i6ely_mondo_relaxed.owl type II IFN production|type II interferon production|IFNG production|interferon-gamma secretion|interferon-gamma biosynthetic process owl:Class UBERON:0006920 biolink:NamedThing esophagus squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001043 biolink:NamedThing esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015243 biolink:NamedThing allergic bronchopulmonary aspergillosis Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. tmpte7i6ely_mondo_relaxed.owl aspergillosis, allergic bronchopulmonary|allergic bronchopulmonary mycosis|pulmonary aspergillus disease|Hinson-Pepys disease|ABPA|allergic bronchopulmonary aspergillosis, familial|allergic aspergillosis OMIM:103920|ICD10:J99.8*|MedDRA:10006474|ICD9:518.6|DOID:13166|EFO:0007140|SCTID:37981002|ICD10:B44.1+|MESH:D001229|ICD10:B44.81|NCIT:C84547|GARD:0000602|Orphanet:1164|UMLS:C0004031 https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis owl:Class GO:0016068 biolink:NamedThing type I hypersensitivity An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. tmpte7i6ely_mondo_relaxed.owl immediate hypersensitivity response owl:Class UBERON:0004940 biolink:NamedThing submucosa of common hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001175 biolink:NamedThing common hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903796 biolink:NamedThing negative regulation of inorganic anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl negative regulation of transmembrane inorganic anion transport|downregulation of transmembrane inorganic anion transport|down regulation of inorganic anion transmembrane transport|downregulation of inorganic anion membrane transport|inhibition of inorganic anion membrane transport|downregulation of inorganic anion transmembrane transport|down-regulation of inorganic anion transmembrane transport|down regulation of inorganic anion membrane transport|inhibition of inorganic anion transmembrane transport|down regulation of transmembrane inorganic anion transport|down-regulation of transmembrane inorganic anion transport|inhibition of transmembrane inorganic anion transport|down-regulation of inorganic anion membrane transport|negative regulation of inorganic anion membrane transport owl:Class UBERON:0012083 biolink:NamedThing lumen of primary bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002182 biolink:NamedThing main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005873 biolink:NamedThing 2nd arch pharyngeal cleft tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003388 biolink:NamedThing ampulla of vater clear cell adenocarcinoma A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. tmpte7i6ely_mondo_relaxed.owl hepatopancreatic ampulla clear cell adenocarcinoma|ampulla of Vater clear cell adenocarcinoma UMLS:C1332246|DOID:5308|NCIT:C27414 owl:Class UBERON:0004913 biolink:NamedThing hepatopancreatic ampulla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022817 biolink:NamedThing congenital amputation tmpte7i6ely_mondo_relaxed.owl GARD:0001471 https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation owl:Class GO:0007585 biolink:NamedThing respiratory gaseous exchange by respiratory system The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. tmpte7i6ely_mondo_relaxed.owl breathing|respiration owl:Class MONDO:0024540 biolink:NamedThing Jervell and Lange-Nielsen syndrome 1 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpte7i6ely_mondo_relaxed.owl Cardioauditory syndrome of Jervell and Lange-Nielsen|prolonged QT interval in Ekg and sudden death|deafness, congenital, and functional heart disease|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|Jervell and Lange-Nielsen syndrome 1|Surdo-Cardiac syndrome|KCNQ1 Jervell and Lange-Nielsen syndrome Orphanet:90647|OMIM:220400|UMLS:CN034131|Orphanet:768|UMLS:C0022387 owl:Class HGNC:6294 biolink:NamedThing KCNQ1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005687 biolink:NamedThing Caliciviridae infectious disease Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. tmpte7i6ely_mondo_relaxed.owl infections, Caliciviridae|Calicivirus infections|infection, Calicivirus|infection, Caliciviridae|infections, Calicivirus|Caliciviridae infection|Calicivirus infection MESH:D017250|EFO:0007189 owl:Class NCBITaxon:11974 biolink:NamedThing Caliciviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012041 biolink:NamedThing MUTYH-related attenuated familial adenomatous polyposis An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. tmpte7i6ely_mondo_relaxed.owl MUTYH-related attenuated familial polyposis coli|MAP|adenomas, multiple colorectal, autosomal recessive|MYH-associated polyposis|autosomal recessive familial adenomatous polyposis|MUTYH-related attenuated familial adenomatous polyposis|familial adenomatous polyposis, 2|familial adenomatous polyposis, type 2|colorectal adenomatous polyposis, autosomal recessive|MUTYH-related attenuated FAP|MAP syndrome|MUTYH-associated polyposis|FAP2|MUTYH-related AFAP|autosomal recessive multiple colorectal adenomas|familial adenomatous polyposis 2 OMIM:608456|Orphanet:247798|ICD10:D12.6|NCIT:C96520|UMLS:C1837991|Orphanet:220460|GARD:0010805|MESH:C563924 https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis owl:Class HGNC:7527 biolink:NamedThing MUTYH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005982 biolink:NamedThing tinea infection A skin infection caused by a fungus. tmpte7i6ely_mondo_relaxed.owl Tinea infection|Tinea infectious disease|Tinea|Tinea disease or disorder|ringworm|Tinea caused disease or disorder EFO:0007510|UMLS:C0040247|NCIT:C112181 Editor note: consider obsoleting as this is a loose grouping owl:Class NCBITaxon:41013 biolink:NamedThing Tinea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014833 biolink:NamedThing heart and brain malformation syndrome tmpte7i6ely_mondo_relaxed.owl heart and brain malformation syndrome; HBMS|heart and brain malformation syndrome|HBMS UMLS:C4310793|OMIM:616920 owl:Class HGNC:25763 biolink:NamedThing SMG9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008158 biolink:NamedThing dacryocystitis-osteopoikilosis syndrome Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). tmpte7i6ely_mondo_relaxed.owl Gunal Seber Basaran syndrome|osteopoikilosis and dacryocystitis|Gunal-Seber-Basaran syndrome|dacryocystitis osteopoikilosis UMLS:C1833698|Orphanet:1562|MESH:C536061|OMIM:166705|GARD:0000351|SCTID:721082002 owl:Class MONDO:0014054 biolink:NamedThing lymphoproliferative syndrome 2 Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene. tmpte7i6ely_mondo_relaxed.owl LPFS2|lymphoproliferative syndrome 2|lymphoproliferative syndrome type 2|lymphoproliferative syndrome caused by mutation in CD27|CD27 lymphoproliferative syndrome ICD10:D47.9|UMLS:C3554540|OMIM:615122|Orphanet:238505|DOID:0060708 owl:Class OBO:CHR_9606-chr7q3 biolink:NamedThing 7q3 (Human) tmpte7i6ely_mondo_relaxed.owl 159345973 107800000 hg38 owl:Class OBO:CHR_9606-chr7q biolink:NamedThing 7q (Human) tmpte7i6ely_mondo_relaxed.owl 159345973 60100000 hg38 owl:Class MONDO:0012836 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 12 tmpte7i6ely_mondo_relaxed.owl SLEB12|systemic lupus erythematosus, susceptibility to, 12 OMIM:612254 owl:Class CL:0008024 biolink:NamedThing pancreatic endocrine cell An endocrine cell that is part of the pancreas. tmpte7i6ely_mondo_relaxed.owl cell owl:Class UBERON:0006285 biolink:NamedThing pubic pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002196 biolink:NamedThing adenohypophysis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045144 biolink:NamedThing meiotic sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl meiosis II, chromosome segregation owl:Class GO:0007135 biolink:NamedThing meiosis II The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II. tmpte7i6ely_mondo_relaxed.owl meiosis II nuclear division owl:Class GO:0045182 biolink:NamedThing translation regulator activity Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. tmpte7i6ely_mondo_relaxed.owl translation factor activity owl:Class MONDO:0004314 biolink:NamedThing malignant cutaneous granular cell skin tumor tmpte7i6ely_mondo_relaxed.owl malignant granular cell neoplasm of skin|malignant granular cell skin neoplasm|malignant cutaneous granular cell tumor|malignant granular cell neoplasm of the skin|malignant granular cell skin tumor|malignant granular cell tumor of the skin|malignant granular cell tumor of skin UMLS:C1334575|DOID:7639|NCIT:C5614 owl:Class MONDO:0009324 biolink:NamedThing Hartnup disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). tmpte7i6ely_mondo_relaxed.owl Hartnup disorder|neutral 1 amino acid transport defect|neutral amino acid transport defect|Hartnup disease|deficiency of tryptophan oxygenase|HND|aminoaciduria, Hartnup type UMLS:C0018609|Orphanet:2116|ICD10:E72.02|NCIT:C84748|MESH:D006250|OMIM:234500|GARD:0006569|SCTID:80902009|DOID:1060|MedDRA:10019165|ICD10:E72.0 https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease owl:Class GO:0015171 biolink:NamedThing amino acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. tmpte7i6ely_mondo_relaxed.owl hydroxy/aromatic amino acid permease activity|general amino acid permease activity|amino acid/choline transmembrane transporter activity|amino acid transporter activity|amino acid permease activity owl:Class UBERON:0012485 biolink:NamedThing cloacal villus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004499 biolink:NamedThing lung hilum carcinoma A lung carcinoma arising from the hilum of the lung. tmpte7i6ely_mondo_relaxed.owl lung hilus carcinoma|hilar lung carcinoma|carcinoma of lung hilus|lung hilum cancer|lung hilum carcinoma DOID:8207|UMLS:C1334445|NCIT:C7454 owl:Class UBERON:0004886 biolink:NamedThing lung hilus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001705 biolink:NamedThing nail tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002862 biolink:NamedThing negative regulation of inflammatory response to antigenic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpte7i6ely_mondo_relaxed.owl down-regulation of inflammatory response to antigenic stimulus|inhibition of inflammatory response to antigenic stimulus|down regulation of inflammatory response to antigenic stimulus|downregulation of inflammatory response to antigenic stimulus owl:Class GO:0002437 biolink:NamedThing inflammatory response to antigenic stimulus An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0120054 biolink:NamedThing intestinal motility Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014211 biolink:NamedThing primary ciliary dyskinesia 26 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 26 with or without situs inversus|CFAP298 primary ciliary dyskinesia|ciliary dyskinesia, primary, 26, with or without situs inversus|CILD26|ciliary dyskinesia, primary, type 26|primary ciliary dyskinesia type 26|ciliary dyskinesia, primary, 26|primary ciliary dyskinesia caused by mutation in CFAP298 ICD10:Q34.8|OMIM:615500|DOID:0110627|UMLS:C3809684 owl:Class HGNC:1301 biolink:NamedThing CFAP298 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005979 biolink:NamedThing crista terminalis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002078 biolink:NamedThing right cardiac atrium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005806 biolink:NamedThing portal system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003744 biolink:NamedThing spindle cell intraocular melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. tmpte7i6ely_mondo_relaxed.owl spindle cell melanoma of uvea|uveal spindle cell melanoma|spindle cell melanoma of the uvea|spindle cell uveal melanoma DOID:6037|UMLS:C0279687|NCIT:C7986 owl:Class MONDO:0006238 biolink:NamedThing growth hormone-producing pituitary gland adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. tmpte7i6ely_mondo_relaxed.owl growth hormone secreting pituitary adenoma|somatotrope adenoma|growth hormone secreting adenoma of pituitary gland|growth hormone secreting pituitary gland adenoma|growth hormone-producing adenoma|growth hormone secreting adenoma of pituitary|growth hormone secreting adenoma of the pituitary|growth hormone producing adenoma of the pituitary gland|growth hormone producing pituitary adenoma|GH cell adenoma|somatotroph adenoma|growth hormone producing adenoma of pituitary gland|growth hormone producing adenoma of pituitary|somatotropic adenoma|Somatotrophinoma|growth hormone producing pituitary gland adenoma|growth hormone secreting adenoma of the pituitary gland|growth hormone-producing pituitary gland adenoma|growth hormone producing adenoma of the pituitary ICD10:E22.0|DOID:6255|EFO:1000287|SCTID:254957009|OMIM:102200|EFO:0004125|Orphanet:96256|OMIM:300943|NCIT:C7461|ICD10:D35.2 MONDO:0005332 owl:Class PATO:0001863 biolink:NamedThing chronic A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:36855 biolink:NamedThing Brucella canis tmpte7i6ely_mondo_relaxed.owl Brucella melitensis biovar Canis|Brucella melitensis bv. Canis GC_ID:11 ncbi_taxonomy owl:Class UBERON:0001297 biolink:NamedThing serosa of uterus tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrM biolink:NamedThing chromosome M (Human) tmpte7i6ely_mondo_relaxed.owl MT 16569 0 hg38 owl:Class OBO:CHR_9606-chr20p13 biolink:NamedThing 20p13 (Human) tmpte7i6ely_mondo_relaxed.owl 5100000 0 hg38 owl:Class UBERON:0003299 biolink:NamedThing roof plate of midbrain tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007249 biolink:NamedThing I-kappaB kinase/NF-kappaB signaling The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. tmpte7i6ely_mondo_relaxed.owl I-kappaB kinase/NF-kappaB signal transduction|NF-kappaB cascade|canonical NF-kappaB signaling cascade|p50-dependent NF-kappaB signaling|activation of the inhibitor of kappa kinase|I-kappaB kinase/NF-kappaB cascade owl:Class GO:0051092 biolink:NamedThing positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. tmpte7i6ely_mondo_relaxed.owl activation of NF-kappaB|NF-kappaB activation|activation of NF-kappaB transcription factor owl:Class CHEBI:16526 biolink:NamedThing carbon dioxide A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food. tmpte7i6ely_mondo_relaxed.owl R-744|CO2|carbonic anhydride|methanedione|CARBON DIOXIDE|E290|[CO2]|Carbon dioxide|E 290|carbon dioxide|dioxidocarbon|E-290 owl:Class CHEBI:77974 biolink:NamedThing food packaging gas A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. tmpte7i6ely_mondo_relaxed.owl food packaging gases owl:Class CHEBI:58570 biolink:NamedThing D-tyrosine zwitterion A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl D-tyrosine|(2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate owl:Class CHEBI:28479 biolink:NamedThing D-tyrosine An optically active form of tyrosine having D-configuration. tmpte7i6ely_mondo_relaxed.owl D-tyrosine|(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid|D-Tyr|D-Tyrosin|D-TYROSINE|DTY|D-Tyrosine|(2R)-2-amino-3-(4-hydroxyphenyl)propanoic acid|(R)-3-(p-Hydroxyphenyl)alanine owl:Class MONDO:0016453 biolink:NamedThing foodborne botulism Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. tmpte7i6ely_mondo_relaxed.owl intoxication botulism SCTID:398523009|UMLS:C1739094|DOID:0050352|Orphanet:228371|ICD10:A05.1|ICD9:005.1|NCIT:C128341 owl:Class HP:0000651 biolink:NamedThing Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. tmpte7i6ely_mondo_relaxed.owl Double vision UMLS:C0012569|MSH:D004172|SNOMEDCT_US:24982008 human_phenotype owl:Class GO:0006390 biolink:NamedThing mitochondrial transcription The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. tmpte7i6ely_mondo_relaxed.owl transcription from mitochondrial promoter owl:Class GO:0005739 biolink:NamedThing mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. tmpte7i6ely_mondo_relaxed.owl mitochondria owl:Class UBERON:0007242 biolink:NamedThing tunica intima of vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010194 biolink:NamedThing Weill-Marchesani syndrome 1 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. tmpte7i6ely_mondo_relaxed.owl spherophakia-brachymorphia syndrome|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome 1|Weill-Marchesani syndrome type 1|WMS1|ADAMTS10 Weill-Marchesani syndrome|Weill-Marchesani syndrome caused by mutation in ADAMTS10|Weill-Marchesani syndrome, autosomal recessive OMIM:277600|Orphanet:3449 owl:Class HGNC:13201 biolink:NamedThing ADAMTS10 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002260 biolink:NamedThing epithelial cell of parathyroid gland An epithelial cell of the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl FMA:70547 tmeehan 2010-09-08T02:29:38Z CL:1000429 cell owl:Class CHEBI:37397 biolink:NamedThing chondroitin sulfate Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues. tmpte7i6ely_mondo_relaxed.owl chondroitin sulfuric acid|Chondroitinsulfat|chondroitin sulphate|chondroitin polysulfate|chondroitin sulfates|Chondroitin sulfate owl:Class CHEBI:16137 biolink:NamedThing chondroitin D-glucuronate A mucopolysaccharide composed of repeating beta-D-glucopyranuronosyl-(1->3)-beta-D-N-acetylgalactosaminyl units. tmpte7i6ely_mondo_relaxed.owl Chondroitin|Chondroitin-D-glucuronate owl:Class GO:0050957 biolink:NamedThing equilibrioception The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion. tmpte7i6ely_mondo_relaxed.owl sensory perception of orientation with respect to gravity owl:Class MONDO:0012466 biolink:NamedThing Parkinson disease 13, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to autosomal dominant Parkinson disease 13|HTRA2 young-onset Parkinson disease|Parkinson disease 13, autosomal dominant, susceptibility to|PARK13|young-onset Parkinson disease caused by mutation in HTRA2 MESH:C565204|Orphanet:2828|OMIM:610297 owl:Class HGNC:14348 biolink:NamedThing HTRA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012025 biolink:NamedThing branchiootic syndrome 3 Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene. tmpte7i6ely_mondo_relaxed.owl bo syndrome 3|branchiootic syndrome caused by mutation in SIX1|branchiootic syndrome type 3|branchiootic syndrome 3|SIX1 branchiootic syndrome|BOS3 OMIM:608389|MESH:C564248|Orphanet:52429|UMLS:C1842124 owl:Class HGNC:10887 biolink:NamedThing SIX1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014031 biolink:NamedThing mesenchymal cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016466 biolink:NamedThing asbestosis A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain. tmpte7i6ely_mondo_relaxed.owl asbestos intoxication|idiopathic interstitial pneumonitis - from asbestos exposure|asbestos pneumoconiosis|pulmonary fibrosis - from asbestos exposure|asbestos intoxination|pneumoconiosis from asbestos dust|asbestosis|asbestos dust pneumoconiosis DOID:10320|CSP:2596-4484|NCIT:C84573|ICD9:501|MESH:D001195|SCTID:22607003|EFO:0007153|Orphanet:2302|GARD:0005852|UMLS:C0003949|ICD10:J61 owl:Class ENVO:02000106 biolink:NamedThing asbestos dust tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012509 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 1 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene. tmpte7i6ely_mondo_relaxed.owl PPNAD1|Cushing syndrome, adrenal, due to PPNAD1|PRKAR1A primary pigmented nodular adrenocortical disease|adrenocortical nodular dysplasia, primary|pigmented nodular adrenocortical disease, primary, type 1|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A|pigmented nodular adrenocortical disease, primary, 1|pigmented micronodular adrenocortical disease, primary, 1 Orphanet:189439|OMIM:610489|MESH:C566469 owl:Class HGNC:9388 biolink:NamedThing PRKAR1A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000170 biolink:NamedThing pair of lungs tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003887 biolink:NamedThing intraembryonic coelom tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011997 biolink:NamedThing coelom tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014251 biolink:NamedThing melioidosis, susceptibility to tmpte7i6ely_mondo_relaxed.owl melioidosis, susceptibility to|melioidosis, resistance to|susceptibility to melioidosis OMIM:615557|Orphanet:31202 owl:Class MONDO:0021957 biolink:NamedThing autosomal recessive nonsyndromic congenital nuclear cataract tmpte7i6ely_mondo_relaxed.owl congenital nuclear cataract, autosomal recessive OMIM:609376|MESH:C537298|GARD:0009492|UMLS:C2931470 https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract owl:Class HGNC:2976 biolink:NamedThing DNMT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003054 biolink:NamedThing benign meningioma A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection. tmpte7i6ely_mondo_relaxed.owl benign meningioma (WHO grade I)|meningioma, benign|meningioma (disease), benign DOID:4587|NCIT:C4055|MESH:D008579|UMLS:C0281784|SCTID:724171006 owl:Class MONDO:0021627 biolink:NamedThing eyelid capillary hemangioma A capillary hemangioma arising from the eyelid. tmpte7i6ely_mondo_relaxed.owl capillary angioma of lid|capillary hemangioma of the lid|capillary angioma of eyelid|eyelid capillary hemangioma|capillary angioma of the lid|capillary hemangioma of lid|eyelid capillary angioma|capillary hemangioma of the eyelid|capillary hemangioma of eyelid|capillary angioma of the eyelid SCTID:231828003|NCIT:C4357|UMLS:C0339110 owl:Class CL:1000492 biolink:NamedThing mesothelial cell of parietal pleura A mesothelial cell that is part of the parietal pleura. tmpte7i6ely_mondo_relaxed.owl FMA:86738 cell owl:Class UBERON:0002400 biolink:NamedThing parietal pleura tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014623 biolink:NamedThing microcephaly 14, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene. tmpte7i6ely_mondo_relaxed.owl SASS6 autosomal recessive primary microcephaly|MCPH14|autosomal recessive primary microcephaly caused by mutation in SASS6|microcephaly 14, primary, autosomal recessive UMLS:C4225338|DOID:0070279|OMIM:616402 owl:Class UBERON:0008805 biolink:NamedThing gingival groove tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001009 biolink:NamedThing circulatory system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001827 biolink:NamedThing secretion of lacrimal gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:1000024 biolink:NamedThing parenchyma of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002106 biolink:NamedThing spleen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000307 biolink:NamedThing blastula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002419 biolink:NamedThing transient tic disorder A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. tmpte7i6ely_mondo_relaxed.owl benign Tic disorder of childhood DOID:2768|SCTID:56573006|ICD10:F95.0|MESH:D013981|ICD9:307.21|NCIT:C116767 owl:Class HP:0025153 biolink:NamedThing Transient Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. tmpte7i6ely_mondo_relaxed.owl 2016-12-03 22:19:26+00:00 HPO:probinson human_phenotype owl:Class UBERON:0005035 biolink:NamedThing mucosa of left main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002178 biolink:NamedThing left main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000277 biolink:NamedThing water ice Ice which is formed from water. tmpte7i6ely_mondo_relaxed.owl ice owl:Class MONDO:0014007 biolink:NamedThing Aicardi-Goutieres syndrome 6 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene. tmpte7i6ely_mondo_relaxed.owl Aicardi-Goutieres syndrome type 6|Aicardi-Goutieres syndrome caused by mutation in ADAR|Adar Aicardi-Goutieres syndrome|ADAR Aicardi-Goutieres syndrome|AGS6|Aicardi-Goutieres syndrome caused by mutation in Adar|Aicardi-Goutieres syndrome 6 UMLS:C3539013|Orphanet:51|OMIM:615010 owl:Class HGNC:225 biolink:NamedThing ADAR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006283 biolink:NamedThing future cardiac ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001795 biolink:NamedThing inner plexiform layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030425 biolink:NamedThing dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0009763 biolink:NamedThing Limb pain Chronic pain in the limbs with no clear focal etiology. tmpte7i6ely_mondo_relaxed.owl Pain in extremities|Limb pain SNOMEDCT_US:90834002|UMLS:C0030196 peter 2009-02-01T03:55:10Z human_phenotype owl:Class MONDO:0017418 biolink:NamedThing chronic intestinal failure Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease). tmpte7i6ely_mondo_relaxed.owl CIF SCTID:716665002|Orphanet:294422|UMLS:CN203168|UMLS:C4274352 owl:Class MONDO:0000229 biolink:NamedThing Indian tick typhus An infectious disease caused by infection with rickettsia conorii subsp. coronorii. tmpte7i6ely_mondo_relaxed.owl DOID:0050042|Orphanet:101335 owl:Class NCBITaxon:34632 biolink:NamedThing Rhipicephalus sanguineus tmpte7i6ely_mondo_relaxed.owl Ixodes sanguineus|brown dog tick GC_ID:1 NCBITaxon:2138176|NCBITaxon:59657 ncbi_taxonomy owl:Class UBERON:0011138 biolink:NamedThing postcranial axial skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002351 biolink:NamedThing sinoatrial node tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060048 biolink:NamedThing cardiac muscle contraction Muscle contraction of cardiac muscle tissue. tmpte7i6ely_mondo_relaxed.owl heart muscle contraction owl:Class CHEBI:16189 biolink:NamedThing sulfate A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid. tmpte7i6ely_mondo_relaxed.owl Sulfuric acid ion(2-)|sulfate|tetraoxosulfate(VI)|tetraoxosulfate(2-)|Sulfate anion(2-)|sulphate ion|SULFATE ION|Sulfate|tetraoxidosulfate(2-)|sulphate|SO4(2-)|Sulfate(2-)|[SO4](2-)|Sulfate dianion owl:Class CHEBI:45696 biolink:NamedThing hydrogensulfate tmpte7i6ely_mondo_relaxed.owl hydrogensulfate|[SO3(OH)](-)|hydrogentetraoxosulfate(VI)|HSO4(-)|hydrogentetraoxosulfate(1-)|hydrogen(tetraoxidosulfate)(1-)|hydroxidotrioxidosulfate(1-)|hydrogensulfate(1-)|HYDROGEN SULFATE owl:Class MONDO:0010962 biolink:NamedThing diffuse nonepidermolytic palmoplantar keratoderma A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. tmpte7i6ely_mondo_relaxed.owl Thost-Unna palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic|PPK diffusa circumscripta|nonepidermolytic palmoplantar keratoderma|diffuse nonepidermolytic palmoplantar keratoderma|tylosis|PPKNE|KRT1-related diffuse nonepidermolytic keratoderma|Unna-Thost palmoplantar keratoderma|Thost-Unna disease|keratoderma, nonepidermolytic palmoplantar|diffuse NEPPK|NEPPK OMIM:600962|Orphanet:530838|Orphanet:496|GARD:0005186 owl:Class HGNC:6412 biolink:NamedThing KRT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003668 biolink:NamedThing synovial bursa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002018 biolink:NamedThing synovial membrane of synovial joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007764 biolink:NamedThing autosomal dominant osteosclerosis, Worth type Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. tmpte7i6ely_mondo_relaxed.owl endosteal hyperostosis, autosomal dominant|osteosclerosis, autosomal dominant, Worth type|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus|osteosclerosis, autosomal dominant|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, Worth type|Ostéosclérose autosomique dominante type Worth|Worth syndrome GARD:0000390|Orphanet:2790|ICD10:Q78.2|OMIM:144750 owl:Class HGNC:6697 biolink:NamedThing LRP5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005023 biolink:NamedThing mucosa of oropharynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001729 biolink:NamedThing oropharynx tmpte7i6ely_mondo_relaxed.owl owl:Class Nc7172bb8ceb84678a1f7e3cb627d5821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018665 biolink:NamedThing X-linked acrogigantism due to a point mutation tmpte7i6ely_mondo_relaxed.owl familial infantile gigantism due to a point mutation|X-LAG (X-linked acrogigantism) due to a point mutation ICD10:E22.0|Orphanet:448348|UMLS:CN237730 owl:Class GO:0005652 biolink:NamedThing nuclear lamina The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034399 biolink:NamedThing nuclear periphery The portion of the nuclear lumen proximal to the inner nuclear membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006435 biolink:NamedThing os penis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010005 biolink:NamedThing placental labyrinth villous tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003946 biolink:NamedThing placenta labyrinth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003952 biolink:NamedThing adult central nervous system choriocarcinoma A choriocarcinoma of the central nervous system that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl choriocarcinoma of adult CNS|choriocarcinoma of the adult CNS|choriocarcinoma of the adult central nervous system|adult choriocarcinoma of the central nervous system|adult CNS choriocarcinoma|choriocarcinoma of the central nervous system of adults|choriocarcinoma of adult central nervous system|adult central nervous system choriocarcinoma|central nervous system choriocarcinoma DOID:6634|NCIT:C5793|UMLS:C1370505 owl:Class MONDO:0016951 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 18 tmpte7i6ely_mondo_relaxed.owl partial duplication/triplication of the short arm of chromosome 18|partial trisomy/tetrasomy of chromosome 18p|partial trisomy/tetrasomy of the short arm of chromosome type 18|partial duplication/triplication of chromosome 18p Orphanet:262812 owl:Class OBO:CHR_9606-chr18p biolink:NamedThing 18p (Human) tmpte7i6ely_mondo_relaxed.owl 18500000 0 hg38 owl:Class MONDO:0013339 biolink:NamedThing dilated cardiomyopathy 1GG Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1GG|familial isolated dilated cardiomyopathy caused by mutation in SDHA|CMD1GG|SDHA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Gg|dilated cardiomyopathy type 1GG DOID:0110435|UMLS:C3150898|ICD10:I42.0|OMIM:613642 owl:Class MONDO:0002920 biolink:NamedThing malignant ovarian Brenner tumor A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. tmpte7i6ely_mondo_relaxed.owl malignant Brenner tumor of the ovary|malignant Brenner tumor of ovary|malignant ovarian Brenner tumor|ovarian Brenner tumor, malignant MESH:D001948|DOID:4217|ICDO:9000/3|NCIT:C4270|EFO:1000357|UMLS:C0334495 owl:Class MONDO:0013414 biolink:NamedThing retinitis pigmentosa 44 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene. tmpte7i6ely_mondo_relaxed.owl RGR retinitis pigmentosa|RP44|retinitis pigmentosa 44|retinitis pigmentosa caused by mutation in RGR|retinitis pigmentosa type 44 UMLS:C3151068|ICD10:H35.5|OMIM:613769|DOID:0110394 owl:Class HGNC:9990 biolink:NamedThing RGR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012420 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 49 An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness. tmpte7i6ely_mondo_relaxed.owl DFNB49|autosomal recessive nonsyndromic deafness 49|deafness, autosomal recessive type 49|MARVELD2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 49|autosomal recessive deafness 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2|deafness, autosomal recessive 49 ICD10:H90.3|DOID:0110506|MESH:C565717|UMLS:C1857811|OMIM:610153|NCIT:C129024 owl:Class HGNC:26401 biolink:NamedThing MARVELD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013083 biolink:NamedThing neuroblastoma, susceptibility to, 3 Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene. tmpte7i6ely_mondo_relaxed.owl NBLST3|susceptibility to neuroblastoma 3|ALK neuroblastoma|neuroblastoma, susceptibility to, type 3|neuroblastoma caused by mutation in ALK|neuroblastoma, susceptibility to, 3 OMIM:613014 owl:Class HGNC:427 biolink:NamedThing ALK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004657 biolink:NamedThing disseminated chorioretinitis tmpte7i6ely_mondo_relaxed.owl SCTID:78769001|ICD10:H30.10|DOID:8787|UMLS:C0154879|ICD9:363.1|ICD9:363.10|ICD10:H30.1 owl:Class MONDO:0022202 biolink:NamedThing disseminated tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007285 biolink:NamedThing presumptive paraxial mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003077 biolink:NamedThing paraxial mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016365 biolink:NamedThing familial primary hyperparathyroidism An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary primary hyperparathyroidism (disease) GARD:0002837|UMLS:CN201220|Orphanet:2207|ICD10:E21.0 owl:Class UBERON:0008436 biolink:NamedThing thoracic vertebral arch tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002713 biolink:NamedThing epidural spinal canal neoplasm A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord. tmpte7i6ely_mondo_relaxed.owl epidural spinal canal tumors|epidural spinal canal tumor|tumor of epidural space|extradural spinal neoplasms|tumor of the extradural spinal canal|tumor of extradural spinal canal|neoplasm of the epidural spinal canal|epidural spinal neoplasms|epidural space neoplasm|epidural space tumor|neoplasm of epidural spinal canal|epidural tumor|neoplasm of epidural space|extradural spinal tumors|epidural neoplasm|neoplasm of the extradural spinal canal|extradural spinal canal neoplasm|extradural spinal canal neoplasms|extradural neoplasm|tumor of the epidural spinal canal|epidural spinal canal neoplasm|neoplasm of extradural spinal canal|tumor of epidural spinal canal|extradural tumor|epidural spinal tumors|extradural spinal canal tumor EFO:1000923|NCIT:C3019|MESH:D015174|DOID:3618|UMLS:C0014536 owl:Class GO:0045860 biolink:NamedThing positive regulation of protein kinase activity Any process that activates or increases the frequency, rate or extent of protein kinase activity. tmpte7i6ely_mondo_relaxed.owl upregulation of protein kinase activity|up-regulation of protein kinase activity|up regulation of protein kinase activity|stimulation of protein kinase activity owl:Class GO:0004672 biolink:NamedThing protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. tmpte7i6ely_mondo_relaxed.owl protamine kinase activity owl:Class HGNC:4388 biolink:NamedThing GNAL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005879 biolink:NamedThing ocular toxoplasmosis Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids. tmpte7i6ely_mondo_relaxed.owl MESH:D014126|ICD9:130.7|SCTID:416481006|UMLS:C0040561|EFO:0007399|GARD:0007238 https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis owl:Class UBERON:0015179 biolink:NamedThing somite boundary epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015178 biolink:NamedThing somite border tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045779 biolink:NamedThing negative regulation of bone resorption Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. tmpte7i6ely_mondo_relaxed.owl inhibition of bone resorption|downregulation of bone resorption|down-regulation of bone resorption|down regulation of bone resorption owl:Class GO:0045453 biolink:NamedThing bone resorption The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q1 biolink:NamedThing 13q1 (Human) tmpte7i6ely_mondo_relaxed.owl 54700000 17700000 hg38 owl:Class CL:0002431 biolink:NamedThing CD4-positive, CD8-intermediate double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor. tmpte7i6ely_mondo_relaxed.owl T.4int8+.th tmeehan 2010-10-21T02:29:23Z cell owl:Class MONDO:0003592 biolink:NamedThing gastric liposarcoma A malignant adipose tissue neoplasm of the stomach. tmpte7i6ely_mondo_relaxed.owl liposarcoma of stomach|liposarcoma of the stomach|gastric liposarcoma|stomach liposarcoma NCIT:C5488|DOID:5700|UMLS:C1333778 owl:Class GO:0002009 biolink:NamedThing morphogenesis of an epithelium The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. tmpte7i6ely_mondo_relaxed.owl epithelium morphogenesis owl:Class MONDO:0010400 biolink:NamedThing X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging. tmpte7i6ely_mondo_relaxed.owl scapuloperoneal myopathy, FHL1-related|SPM|X-linked SPMD|X-linked scapuloperoneal syndrome|scapuloperoneal myopathy, X-linked dominant Orphanet:431272|OMIM:300695|UMLS:C2678061|ICD10:G71.0|GARD:0007608 owl:Class HGNC:3702 biolink:NamedThing FHL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014074 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, dominant Intermediate type F|CMTDIF|Charcot-Marie-Tooth disease dominant intermediate type F|autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant intermediate F|DI-CMTF|GNB4-related intermediate Charcot-Marie-Tooth neuropathy UMLS:C3554654|ICD10:G60.0|GARD:0009206|OMIM:615185|Orphanet:352670|DOID:0110206 Not in the OMIM series. owl:Class HGNC:20731 biolink:NamedThing GNB4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011355 biolink:NamedThing cone-rod dystrophy 7 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene. tmpte7i6ely_mondo_relaxed.owl CORD7|cone-rod dystrophy caused by mutation in RIMS1|RIMS1 cone-rod dystrophy|cone-rod dystrophy 7|cone-rod dystrophy type 7 UMLS:C1863634|OMIM:603649|DOID:0111012|Orphanet:1872|MESH:C566350 owl:Class HGNC:17282 biolink:NamedThing RIMS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3754 biolink:NamedThing FLNA tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001609 biolink:NamedThing Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. tmpte7i6ely_mondo_relaxed.owl Hoarseness|Husky voice|Hoarse voice UMLS:C0019825|MSH:D006685|UMLS:C1854348|SNOMEDCT_US:50219008 HP:0001613|HP:0001619 human_phenotype owl:Class GO:0030224 biolink:NamedThing monocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. tmpte7i6ely_mondo_relaxed.owl monocyte cell differentiation owl:Class UBERON:0003921 biolink:NamedThing pancreas primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013147 biolink:NamedThing dilated cardiomyopathy 1CC Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy type 1CC|CMD1CC|familial isolated dilated cardiomyopathy caused by mutation in NEXN|NEXN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1CC|cardiomyopathy, dilated, type 1Cc DOID:0110424|MESH:C567733|OMIM:613122|Orphanet:154|UMLS:C2751084|ICD10:I42.0 owl:Class UBERON:0007652 biolink:NamedThing esophageal sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011887 biolink:NamedThing cataract, congenital, with mental impairment and dentate gyrus atrophy tmpte7i6ely_mondo_relaxed.owl cataract, congenital, with mental impairment and dentate gyrus atrophy MESH:C564353|OMIM:607674|UMLS:C1843257 owl:Class MONDO:0012237 biolink:NamedThing nemaline myopathy 6 Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy 6, autosomal dominant|nemaline myopathy caused by mutation in KBTBD13|KBTBD13 nemaline myopathy|nemaline myopathy type 6|NEM6|nemaline myopathy 6 OMIM:609273|MESH:C538398|Orphanet:607|DOID:0110935|UMLS:C1836472 owl:Class HGNC:37227 biolink:NamedThing KBTBD13 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001747 biolink:NamedThing parenchyma of thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002046 biolink:NamedThing thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004706 biolink:NamedThing bulbus cordis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007932 biolink:NamedThing age related macular degeneration 2 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. tmpte7i6ely_mondo_relaxed.owl macular degeneration, age-related, 2|age related macular degeneration type 2|macular Degeneration, age-related, type 2|maculopathy, age-related, 2|macular Degeneration, Senile|ARMD2 DOID:0110015|UMLS:C3495438|MESH:C562479|OMIM:153800 owl:Class HGNC:34 biolink:NamedThing ABCA4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012547 biolink:NamedThing Noonan syndrome 4 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. tmpte7i6ely_mondo_relaxed.owl SOS1 gene related Noonan syndrome|Noonan syndrome 4|SOS1 Noonan syndrome|Noonan syndrome type 4|Noonan syndrome caused by mutation in SOS1|NS4 DOID:0060582|Orphanet:648|GARD:0010699|OMIM:610733|UMLS:C1853120|MESH:C548082 https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4 owl:Class HGNC:11187 biolink:NamedThing SOS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013292 biolink:NamedThing chromosome 4q21 deletion syndrome The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. tmpte7i6ely_mondo_relaxed.owl monosomy 4q21|4q21 microdeletion syndrome|Del(4)(q21)|chromosome 4q21 deletion syndrome ICD10:Q93.5|OMIM:613509|UMLS:C3150756|SCTID:719660008|DOID:0060420|Orphanet:238750|UMLS:C4304530 owl:Class OBO:CHR_9606-chr4q21 biolink:NamedThing 4q21 (Human) tmpte7i6ely_mondo_relaxed.owl 87100000 75300000 hg38 owl:Class MONDO:0020712 biolink:NamedThing 46,XY sex reversal 1 tmpte7i6ely_mondo_relaxed.owl 46,XY sex reversal type 1|46,XY sex reversal, SRY-related|SRXY1|46,XY gonadal dysgenesis, complete, SRY-related|46,XY sex reversal 1|46,XY true hermaphroditism, SRY-related OMIM:400044|DOID:0111778 owl:Class HGNC:11311 biolink:NamedThing SRY tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004784 biolink:NamedThing heart ventricle wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002082 biolink:NamedThing cardiac ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007732 biolink:NamedThing interphalangeal joint of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003625 biolink:NamedThing manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041903 biolink:NamedThing gonococcal infection of joint tmpte7i6ely_mondo_relaxed.owl gonococcal infection of joint|gonococcal arthritis|gonococcal joint infection|gonococcal rheumatism UMLS:C0153216|SCTID:44743006 owl:Class NCBITaxon:485 biolink:NamedThing Neisseria gonorrhoeae tmpte7i6ely_mondo_relaxed.owl Micrococcus gonorrhoeae|Micrococcus gonococcus|Diplococcus gonorrhoeae|Merismopedia gonorrhoeae|Gonococcus neisseri|Micrococcus der gonorrhoe GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004336 biolink:NamedThing rectal signet ring cell adenocarcinoma An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. tmpte7i6ely_mondo_relaxed.owl signet Ring cell adenocarcinoma of the rectum|signet Ring adenocarcinoma of the rectum|signet Ring adenocarcinoma of rectum|rectal signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of rectum|rectum signet ring cell carcinoma|rectum signet ring adenocarcinoma DOID:7707|NCIT:C9168|UMLS:C0279654 owl:Class MONDO:0000407 biolink:NamedThing malignant pleural solitary fibrous tumor A malignant form of pleural solitary fibrous tumor. tmpte7i6ely_mondo_relaxed.owl pleural solitary fibrous tumor, malignant DOID:0050695 owl:Class GO:0007399 biolink:NamedThing nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. tmpte7i6ely_mondo_relaxed.owl pan-neural process owl:Class UBERON:0002188 biolink:NamedThing respiratory bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008874 biolink:NamedThing pulmonary acinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000930 biolink:NamedThing stomodeum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011497 biolink:NamedThing hereditary North American Indian childhood cirrhosis Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. tmpte7i6ely_mondo_relaxed.owl NORTH American Indian childhood cirrhosis|NAIC UMLS:C1858051|Orphanet:168583|SCTID:699189004|OMIM:604901|MESH:C565737|ICD10:K74.6 owl:Class HGNC:1983 biolink:NamedThing UTP4 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6943 biolink:NamedThing Amblyomma americanum tmpte7i6ely_mondo_relaxed.owl Haemalastor americanus|Lone Star tick GC_ID:1 ncbi_taxonomy owl:Class HGNC:4189 biolink:NamedThing GCDH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018516 biolink:NamedThing epithelial tumor of anal canal A epithelial neoplasm that involves the anal canal. tmpte7i6ely_mondo_relaxed.owl anal canal epithelial neoplasm UMLS:CN237521|Orphanet:424010 owl:Class MONDO:0014178 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene. tmpte7i6ely_mondo_relaxed.owl HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2|multisystem Proteinopathy 2|IBMPFD2|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2 Orphanet:52430|UMLS:C3809468|OMIM:615422|DOID:0111384 owl:Class HGNC:5033 biolink:NamedThing HNRNPA2B1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001162 biolink:NamedThing cardia of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006616 biolink:NamedThing right external ear tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008321 biolink:NamedThing pruritus, hereditary localized tmpte7i6ely_mondo_relaxed.owl pruritus, hereditary localized OMIM:177100|MESH:C566754|UMLS:C1867499 owl:Class UBERON:0001261 biolink:NamedThing lamina propria of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001259 biolink:NamedThing mucosa of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013812 biolink:NamedThing Baraitser-winter syndrome 2 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene. tmpte7i6ely_mondo_relaxed.owl Baraitser-Winter syndrome type 2|ACTG1 Baraitser-Winter cerebrofrontofacial syndrome|BRWS2|Baraitser-WINTER syndrome 2|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1|Baraitser-winter syndrome 2 OMIM:614583|Orphanet:2995|UMLS:C3281235 owl:Class HGNC:144 biolink:NamedThing ACTG1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002446 biolink:NamedThing patella tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903304 biolink:NamedThing positive regulation of pyruvate kinase activity Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of phosphoenolpyruvate kinase activity|up-regulation of pyruvate kinase activity|up-regulation of ATP:pyruvate 2-O-phosphotransferase activity|positive regulation of ATP:pyruvate 2-O-phosphotransferase activity|up-regulation of phosphoenolpyruvate kinase activity|activation of phosphoenol transphosphorylase activity|up regulation of phosphoenol transphosphorylase activity|upregulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of phosphoenolpyruvate kinase activity|activation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of pyruvate kinase activity|up regulation of pyruvate kinase activity|upregulation of phosphoenol transphosphorylase activity|upregulation of phosphoenolpyruvate kinase activity|positive regulation of phosphoenol transphosphorylase activity|up-regulation of phosphoenol transphosphorylase activity|activation of phosphoenolpyruvate kinase activity|activation of pyruvate kinase activity owl:Class GO:0004743 biolink:NamedThing pyruvate kinase activity Catalysis of the reaction: = ADP + H(+) + phosphoenolpyruvate => ATP + pyruvate. tmpte7i6ely_mondo_relaxed.owl ATP:pyruvate 2-O-phosphotransferase activity|phosphoenol transphosphorylase activity|phosphoenolpyruvate kinase activity owl:Class MONDO:0009290 biolink:NamedThing glycogen storage disease II Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. tmpte7i6ely_mondo_relaxed.owl glycogenosis, generalized, Cardiac form|deficiency of maltase|acid maltase deficiency|Pompe disease|glycogenosis due to acid maltase deficiency|acid maltase deficiency disease|deficiency of glucoamylase|GSD due to acid maltase deficiency|deficiency of alpha-glucosidase|lysosomal alpha-1,4-glucosidase deficiency|glycogenosis type 2|Alpha-1,4-glucosidase deficiency|generalized glycogenosis|GAA glycogen storage disease|Cardiomegalia Glycogenica diffusa|glycogen storage disease type 2|glycogenosis, type 2|glycogen storage disease, type II|GSD type 2|glycogen storage disease 2|GSD II|GSD 2|glucosidase acid-1,4-alpha deficiency|glycogen storage disease II|glycogen storage disease type II|glycogen storage disease due to acid maltase deficiency|glycogen storage disease caused by mutation in GAA|deficiency of lysosomal alpha-glucosidase|GAA deficiency|GSD type II|Pompe's disease|Aglucosidase alfa|Alpha-1,4-glucosidase acid deficiency|GSD2|glycogenosis type II SCTID:274864009|GARD:0002503|NCIT:C84734|MedDRA:10053185|ICD10:E74.02|OMIM:232300|UMLS:C1968741|GARD:0005714|UMLS:C0017921|ICD10:E74.0|Orphanet:365|DOID:2752 owl:Class HGNC:4065 biolink:NamedThing GAA tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004720 biolink:NamedThing cerebellar vermis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004363 biolink:NamedThing adult spinal cord glioblastoma A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5) tmpte7i6ely_mondo_relaxed.owl adult spinal cord glioblastoma|glioblastoma multiforme of spinal cord|adult spinal cord glioblastoma multiforme DOID:7806|NCIT:C27183|UMLS:C0559185|SCTID:276829003 owl:Class UBERON:0004208 biolink:NamedThing nephrogenic mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019229 biolink:NamedThing inborn disorder of ketolysis An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process. tmpte7i6ely_mondo_relaxed.owl inborn error of ketone body catabolic process|inborn ketone body catabolic process disorder|rare inborn error of ketone body catabolic process|disorder of ketolysis Orphanet:79183|UMLS:CN227594|ICD10:E71.3 owl:Class MONDO:0014638 biolink:NamedThing Fanconi anemia complementation group T Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. tmpte7i6ely_mondo_relaxed.owl Fanconi Anemia, complementation group type T|UBE2T Fanconi anemia|Fanconi anemia caused by mutation in UBE2T|FANCT|Fanconi anemia, complementation group T|Fanconi anemia complementation group type T UMLS:C4084840|DOID:0111081|OMIM:616435 owl:Class HGNC:25009 biolink:NamedThing UBE2T tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012704 biolink:NamedThing dilated cardiomyopathy 1X Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene. tmpte7i6ely_mondo_relaxed.owl FKTN familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1X|CMD1X|cardiomyopathy, dilated, type 1X|cardiomyopathy, dilated, 1X|cardiomyopathy, dilated, with mild or No proximal muscle weakness|dilated cardiomyopathy with mild or no proximal muscle weakness|familial isolated dilated cardiomyopathy caused by mutation in FKTN MESH:C566907|DOID:0110444|UMLS:C1969024|Orphanet:154|ICD10:I42.0|OMIM:611615 owl:Class HGNC:3622 biolink:NamedThing FKTN tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030667 biolink:NamedThing secretory granule membrane The lipid bilayer surrounding a secretory granule. tmpte7i6ely_mondo_relaxed.owl secretory vesicle membrane owl:Class MONDO:0008410 biolink:NamedThing Scheuermann disease A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. tmpte7i6ely_mondo_relaxed.owl familial spinal osteochondrosis|juvenile osteochondrosis of spine|Scheuermann's disease|Scheuermann kyphosis|spinal Osteochondrosis|familial Scheuermann disease|Calve's disease|Sherman's disease|juvenile kyphosis|Scheuermann disease|familial Scheuermann juvenile kyphosis|Scheuermann juvenile kyphosis|juvenile osteochondrosis of Scheurermann|Scheuermann's kyphosis|juvenile osteochondritis of the spine EFO:0008576|GARD:0007610|SCTID:53406005|ICD9:732.0|NCIT:C34999|DOID:13300|UMLS:C0036310|ICD10:M42.00|ICD10:M42.0|Orphanet:3135|OMIM:181440 owl:Class HGNC:7907 biolink:NamedThing NPHP3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:16874 biolink:NamedThing psychosine A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position. tmpte7i6ely_mondo_relaxed.owl 1-O-beta-D-galactosylsphingosine|sphingosine galactoside|1-beta-D-galactosylsphingosine|(2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene|O-galactosylsphingosine|1-beta-D-galactosphingosine|beta-psychosine|Psychosine|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside|Galactosylsphingosine|1-O-beta-D-galactopyranosylsphingosine|O-Galactosylsphingosine owl:Class CL:0000209 biolink:NamedThing taste receptor cell A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste. tmpte7i6ely_mondo_relaxed.owl taste bud cell FMA:67910 cell owl:Class GO:0050912 biolink:NamedThing detection of chemical stimulus involved in sensory perception of taste The series of events involved in the perception of taste in which a gustatory chemical stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl sensory transduction of chemical stimulus during perception of taste|perception of taste, sensory detection of chemical stimulus|perception of taste, detection of chemical stimulus|perception of taste, sensory transduction of chemical stimulus|taste perception|sensory transduction of taste|sensory detection of taste|sensory detection of chemical stimulus during perception of taste owl:Class UBERON:0001229 biolink:NamedThing renal corpuscle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:15440 biolink:NamedThing squalene A triterpene consisting of 2,6,10,15,19,23-hexamethyltetracosane having six double bonds at the 2-, 6-, 10-, 14-, 18- and 22-positions with (all-E)-configuration. tmpte7i6ely_mondo_relaxed.owl squalene|(all-E)-2,6,10,15,19,23-hexamethyl-2,6,10,14,18,22-tetracosahexaene|Supraene|(6E,10E,14E,18E)-2,6,10,15,19,23-hexamethyltetracosa-2,6,10,14,18,22-hexaene|Squalene|Spinacene owl:Class MONDO:0007366 biolink:NamedThing seizures, benign familial neonatal, 2 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene. tmpte7i6ely_mondo_relaxed.owl seizures, benign familial neonatal, 2|KCNQ3 benign neonatal seizures|BFNS2|seizures, benign familial neonatal, type 2|convulsions, benign familial neonatal, 2|benign neonatal seizures caused by mutation in KCNQ3 OMIM:121201|Orphanet:1949|UMLS:C1852581 owl:Class HGNC:6297 biolink:NamedThing KCNQ3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014775 biolink:NamedThing combined oxidative phosphorylation deficiency 28 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation defect type 28|combined oxidative phosphorylation deficiency caused by mutation in SLC25A26|SLC25A26 combined oxidative phosphorylation deficiency|neonatal severe cardiopulmonary failure due to mitochondrial methylation defect|COXPD28|combined oxidative phosphorylation deficiency type 28|combined oxidative phosphorylation deficiency 28 UMLS:C4225206|DOID:0111470|Orphanet:466784|OMIM:616794 owl:Class HGNC:20661 biolink:NamedThing SLC25A26 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051445 biolink:NamedThing regulation of meiotic cell cycle Any process that modulates the rate or extent of progression through the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl meiotic cell cycle regulator|modulation of meiotic cell cycle progression|regulation of progression through meiotic cell cycle|regulation of meiotic cell cycle progression|meiotic cell cycle regulation|meiotic cell cycle modulation owl:Class MONDO:0007704 biolink:NamedThing osteoarthritis susceptibility 2 tmpte7i6ely_mondo_relaxed.owl osteoarthritis susceptibility type 2|osteoarthritis susceptibility 2|hand osteoarthritis|MATN3 osteoarthritis|osteoarthritis of distal interphalangeal joints|OS2|OADIP|Heberden nodes|Dipoa|osteoarthritis caused by mutation in MATN3 OMIM:140600 owl:Class MONDO:0004573 biolink:NamedThing ariboflavinosis A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl riboflavin deficiency|vitamin B2 deficiency OMIM:615026|ICD10:E53.0|ICD9:266.0|DOID:8454|SCTID:20307000 owl:Class HGNC:30225 biolink:NamedThing SLC52A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002184 biolink:NamedThing segmental bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002183 biolink:NamedThing lobar bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33708 biolink:NamedThing amino-acid residue When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. tmpte7i6ely_mondo_relaxed.owl amino acid residue|amino-acid residues|amino-acid residue owl:Class MONDO:0010432 biolink:NamedThing thrombophilia, X-linked, due to factor 9 defect A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). tmpte7i6ely_mondo_relaxed.owl thrombophilia, X-linked, due to factor 9 defect|THPH8|deep Venous thrombosis, protection against|thrombophilia, X-linked, due to factor IX defect UMLS:C2749016|MESH:C567581|OMIM:300807 owl:Class HGNC:3551 biolink:NamedThing F9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009697 biolink:NamedThing epithelium of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000484 biolink:NamedThing Purkinje myocyte of atrioventricular bundle A Purkinje myocyte that is part of the atrioventricular bundle. tmpte7i6ely_mondo_relaxed.owl FMA:83393 cell owl:Class UBERON:0002353 biolink:NamedThing bundle of His tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2077 biolink:NamedThing CLN6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014130 biolink:NamedThing Dowling-Degos disease 2 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene. tmpte7i6ely_mondo_relaxed.owl Dowling-Degos disease 2|Dowling-Degos disease caused by mutation in POFUT1|Dowling-Degos disease type 2|POFUT1 Dowling-Degos disease|DDD2 Orphanet:79145|OMIM:615327|UMLS:C3809147 owl:Class GO:0003677 biolink:NamedThing DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). tmpte7i6ely_mondo_relaxed.owl structure specific DNA binding|microtubule/chromatin interaction|plasmid binding|structure-specific DNA binding owl:Class UBERON:0006082 biolink:NamedThing fundus of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:122354 biolink:NamedThing Mansonella ozzardi tmpte7i6ely_mondo_relaxed.owl Mansonella (Mansonella) ozzardi GC_ID:1 ncbi_taxonomy owl:Class ENVO:02000091 biolink:NamedThing coal A combustible black or brownish-black sedimentary rock usually occurring in rock strata in layers or veins called coal beds or coal seams. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35230 biolink:NamedThing fossil fuel A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth. tmpte7i6ely_mondo_relaxed.owl fossil fuel owl:Class UBERON:0005214 biolink:NamedThing inner renal medulla interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005211 biolink:NamedThing renal medulla interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903314 biolink:NamedThing regulation of nitrogen cycle metabolic process Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071941 biolink:NamedThing nitrogen cycle metabolic process A nitrogen compound metabolic process that contributes to the nitrogen cycle. The nitrogen cycle is a series of metabolic pathways by which nitrogen is converted between various forms and redox states; it encompasses pathways in which nitrogen is acted upon directly, such as nitrification, denitrification, nitrogen fixation, and mineralization. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002412 biolink:NamedThing vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011094 biolink:NamedThing vertebra cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006389 biolink:NamedThing prostate rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma (disease) of prostate gland|rhabdomyosarcoma of the prostate|prostate gland rhabdomyosarcoma (disease)|rhabdomyosarcoma of prostate|prostate rhabdomyosarcoma|prostate gland rhabdomyosarcoma UMLS:C1335518|NCIT:C5522|EFO:1000498|DOID:3252 owl:Class UBERON:0006074 biolink:NamedThing lumbar region of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005462 biolink:NamedThing lower back tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030602 biolink:NamedThing Klebsiella pneumonia An pneumonia caused by infection with Klebsiella. tmpte7i6ely_mondo_relaxed.owl Klebsiella caused pneumonia|pneumonia due to Klebsiella pneumoniae|pneumonia caused by Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae (disorder) ICD10:J15.0|SCTID:64479007|UMLS:C0519030|ICD9:482.0|DOID:13272 owl:Class CL:0000547 biolink:NamedThing proerythroblast An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. tmpte7i6ely_mondo_relaxed.owl pronormoblast|rubriblast FMA:83518 cell owl:Class GO:0005730 biolink:NamedThing nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010587 biolink:NamedThing epidermodysplasia verruciformis, X-linked X-linked form of epidermodysplasia verruciformis. tmpte7i6ely_mondo_relaxed.owl epidermodysplasia verruciformis, X-linked|X-linked epidermodysplasia verruciformis|EDV2|EDVX UMLS:C1844589|OMIM:305350|Orphanet:302|MESH:C564430 owl:Class HP:0001417 biolink:NamedThing X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. tmpte7i6ely_mondo_relaxed.owl X-linked form|X-linked UMLS:C0241764|SNOMEDCT_US:263934009|MSH:D050172 HP:0001418 human_phenotype owl:Class MONDO:0021913 biolink:NamedThing aquagenic pruritus Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success. tmpte7i6ely_mondo_relaxed.owl water-induced itching|aquagenic pruritus SCTID:238695001|UMLS:C0406409|GARD:0010278|ICD9:698.8 https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus owl:Class UBERON:0000053 biolink:NamedThing macula lutea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013795 biolink:NamedThing fibrochondrogenesis 2 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene. tmpte7i6ely_mondo_relaxed.owl COL11A2 fibrochondrogenesis|fibrochondrogenesis 2|FBCG2|fibrochondrogenesis caused by mutation in COL11A2|fibrochondrogenesis type 2 OMIM:614524|Orphanet:2021|UMLS:C3281128 owl:Class HGNC:2187 biolink:NamedThing COL11A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008568 biolink:NamedThing thyroid hormone plasma membrane transport defect tmpte7i6ely_mondo_relaxed.owl thyroid hormone resistance due to T4 plasma Membrane Transport defect|hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|defect|thyroid hormone plasma membrane transport defect MESH:C536916|UMLS:C1861101|GARD:0008499|OMIM:188560 https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect owl:Class GO:0015349 biolink:NamedThing thyroid hormone transmembrane transporter activity Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019306 biolink:NamedThing nose epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000004 biolink:NamedThing nose tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19p13.3 biolink:NamedThing 19p13.3 (Human) tmpte7i6ely_mondo_relaxed.owl 6900000 0 hg38 owl:Class GO:0008016 biolink:NamedThing regulation of heart contraction Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpte7i6ely_mondo_relaxed.owl regulation of cardiac contraction owl:Class GO:0060047 biolink:NamedThing heart contraction The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpte7i6ely_mondo_relaxed.owl heart beating|cardiac contraction|hemolymph circulation owl:Class UBERON:0000996 biolink:NamedThing vagina tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002198 biolink:NamedThing quality of a substance A quality inhering in a bearer by virtue of its constitution. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012333 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 53 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 53|autosomal recessive deafness 53|autosomal recessive nonsyndromic deafness type 53|deafness, autosomal recessive type 53|autosomal recessive nonsyndromic deafness 53|DFNB53|autosomal recessive nonsyndromic deafness caused by mutation in COL11A2|COL11A2 autosomal recessive nonsyndromic deafness ICD10:H90.3|DOID:0110509|MESH:C566453|UMLS:C1864746|OMIM:609706 owl:Class MONDO:0022398 biolink:NamedThing aglossia and situs inversus A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. tmpte7i6ely_mondo_relaxed.owl GARD:0009211 Editor note: check relationship to MONDO:0008740 https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus owl:Class MONDO:0010029 biolink:NamedThing situs inversus A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). tmpte7i6ely_mondo_relaxed.owl heterotaxy, visceral, 5, autosomal|complete situs inversus viscerum|situs ambiguus|laterality sequence|situs inversus totalis|complete transposition (morphologic abnormality)|SIV|complete situs inversus|situs inversus viscerum|HTX5|situs inversus|situs inversus totalis (disease) ICD10:Q89.3|OMIM:270100|NCIT:C87121|HP:0001696|Orphanet:101063|MESH:D012857|ICD9:759.3|SCTID:24614000|Orphanet:450|GARD:0004883|DOID:758|ICD9:759.89 owl:Class UBERON:0006175 biolink:NamedThing pronephric distal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035931 biolink:NamedThing mineralocorticoid secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001801 biolink:NamedThing anterior segment of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015440 biolink:NamedThing ring chromosome 6 Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. tmpte7i6ely_mondo_relaxed.owl Ring chromosome 6 syndrome|R6|Ring chromosome type 6|rose cluster 6|chromosome 6 ring|Ring 6 ICD10:Q93.2|GARD:0006095|NCIT:C121985|SCTID:765488003|Orphanet:1448|MESH:C537763 https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6 owl:Class OBO:CHR_9606-chr6 biolink:NamedThing chromosome 6 (Human) tmpte7i6ely_mondo_relaxed.owl 6 170805979 0 hg38 owl:Class MONDO:0015396 biolink:NamedThing congenital laryngeal cyst Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. tmpte7i6ely_mondo_relaxed.owl SCTID:765763007|UMLS:C0339880|ICD10:Q31.8|Orphanet:141124 owl:Class HP:0100640 biolink:NamedThing Laryngeal cyst Presence of a cyst (sac-like structure) located in the larynx. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:195867000|UMLS:C0339880 doelkens 2010-12-29T05:48:37Z human_phenotype owl:Class MONDO:0002258 biolink:NamedThing pharyngitis Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. tmpte7i6ely_mondo_relaxed.owl pharyngeal disorder|chronic pharyngitis and nasopharyngitis|chronic pharyngitis|chronic sore throat|inflamed throat|chronic pharyn/nasopharyngitis|throat inflammation|Sore throat - chronic|Sore throat|inflammation of throat|pharyngitis - acute|pharyngeal disease|acute pharyngitis|acute sore throat|persistent sore throat UMLS:C0031350|ICD9:462|NCIT:C26851|ICD10:J02.9|ICD10:J02|ICD9:472|SCTID:405737000|ICD9:478.20|MESH:D010612|DOID:2275 owl:Class UBERON:0012151 biolink:NamedThing skeleton of manual digitopodium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002025 biolink:NamedThing stratum basale of epidermis tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000148 biolink:NamedThing melanocyte A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. tmpte7i6ely_mondo_relaxed.owl melanophore BTO:0000847|VHOG:0001679|FMA:70545|CALOHA:TS-0613 CL:0000572 cell owl:Class UBERON:0002408 biolink:NamedThing parietal serous pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002357 biolink:NamedThing serous pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001829 biolink:NamedThing major salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q12 biolink:NamedThing 5q12 (Human) tmpte7i6ely_mondo_relaxed.owl 67400000 59600000 hg38 owl:Class OBO:CHR_9606-chr5q1 biolink:NamedThing 5q1 (Human) tmpte7i6ely_mondo_relaxed.owl 98900000 48800000 hg38 owl:Class MONDO:0014395 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 2 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. tmpte7i6ely_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2|FTDALS2 Orphanet:275872|DOID:0060214|UMLS:C4014648|OMIM:615911 owl:Class HGNC:15559 biolink:NamedThing CHCHD10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007267 biolink:NamedThing hypertrophic cardiomyopathy 3 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 3|TPM1 hypertrophic cardiomyopathy|CMH3|hypertrophic cardiomyopathy caused by mutation in TPM1|hypertrophic cardiomyopathy type 3|cardiomyopathy, familial hypertrophic, type 3|hypertrophic cardiomyopathy 3|cardiomyopathy familial hypertrophic 3 MESH:C566170|DOID:0110309|UMLS:C1861863|OMIM:115196 owl:Class HGNC:12010 biolink:NamedThing TPM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033850 biolink:NamedThing autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect tmpte7i6ely_mondo_relaxed.owl Orphanet:521411 owl:Class HGNC:10604 biolink:NamedThing SCO2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29043 biolink:NamedThing DSTYK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014992 biolink:NamedThing lissencephaly 8 Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene. tmpte7i6ely_mondo_relaxed.owl lissencephaly type 8|lissencephaly 8; LIS8|TMTC3 lissencephaly (disease)|LIS8|lissencephaly (disease) caused by mutation in TMTC3|lissencephaly 8 UMLS:C4310646|OMIM:617255 owl:Class HGNC:26899 biolink:NamedThing TMTC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001749 biolink:NamedThing cortical senile cataract A senile cataract that involves the lens cortex. tmpte7i6ely_mondo_relaxed.owl lens cortex senile cataract|cortical senile cataract|senile cataract of lens cortex DOID:13574|SCTID:78875003|UMLS:C0154980|ICD9:366.15 owl:Class UBERON:0000389 biolink:NamedThing lens cortex tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003074 biolink:NamedThing Hyperglycemia An increased concentration of glucose in the blood. tmpte7i6ely_mondo_relaxed.owl High blood sugar|High blood glucose MSH:D006943|UMLS:C0020456|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005 human_phenotype owl:Class HGNC:14409 biolink:NamedThing SLC25A19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009916 biolink:NamedThing 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. tmpte7i6ely_mondo_relaxed.owl Male pseudoherma-phroditism with gynecomastia|17-KSR deficiency|17 alpha ketosteroid reductase deficiency of testis|17 alpha KSR deficiency|Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|17-ketosteroidreductase deficiency|polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|17 Beta HSD3 deficiency|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|pseudohermaphroditism, Male, with gynecomastia|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|17-beta-hydroxysteroid dehydrogenase 3 deficiency|46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-beta hydroxysteroid dehydrogenase 3 deficiency|17-Beta hydroxysteroid dehydrogenase 3 deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|17 beta HSD3 deficiency|17-ketoreductase deficiency|neutral 17 beta hydroxysteroid oxidoreductase deficiency|17-ketosteroid reductase deficiency of testis Orphanet:752|GARD:0005659|ICD10:E29.1|MESH:C537805|OMIM:264300|NCIT:C120203|MESH:C564868|SCTID:50658006 owl:Class ECTO:9001630 biolink:NamedThing exposure to endocrine disruptor An exposure to endocrine disruptor. tmpte7i6ely_mondo_relaxed.owl exposure to endocrine disruptor owl:Class MONDO:0014556 biolink:NamedThing congenital contractures of the limbs and face, hypotonia, and developmental delay tmpte7i6ely_mondo_relaxed.owl congenital contractures of the limbs and face, hypotonia, and developmental delay|CLIFAHDD EFO:1001868|OMIM:616266|UMLS:C4225398 owl:Class HGNC:19082 biolink:NamedThing NALCN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012833 biolink:NamedThing Crouzon syndrome-acanthosis nigricans syndrome Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). tmpte7i6ely_mondo_relaxed.owl CAN|can|Chronic kidney allograft nephropathy|Crouzon syndrome with acanthosis nigricans|chronic allograft nephropathy|Crouzon-dermoskeletal syndrome|Crouzonodermoskeletal syndrome MESH:C567382|OMIM:612247|NCIT:C38145|Orphanet:93262|SCTID:702361006|ICD10:Q75.1|DOID:0111161 owl:Class HGNC:3690 biolink:NamedThing FGFR3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:141668 biolink:NamedThing L-tyrosinal(1+) A primary ammonium ion resulting from the protonation of the amino group of L-tyrosinal. tmpte7i6ely_mondo_relaxed.owl (2S)-1-(4-hydroxyphenyl)-3-oxopropan-2-aminium|(2S)-1-(p-hydroxyphenyl)-3-oxopropan-2-aminium|L-tyrosinal owl:Class UBERON:0034922 biolink:NamedThing cell cluster tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000015 biolink:NamedThing non-material anatomical boundary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012937 biolink:NamedThing Diamond-Blackfan anemia 6 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene. tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan Anemia type 6|Aase-Smith syndrome 2|Diamond-Blackfan anemia 6|DBA6|Diamond-Blackfan anemia caused by mutation in RPL5|RPL5 Diamond-Blackfan anemia OMIM:612561|Orphanet:124|UMLS:C0265265 owl:Class HGNC:10360 biolink:NamedThing RPL5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035642 biolink:NamedThing laryngeal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013691 biolink:NamedThing Feingold syndrome type 2 Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures. tmpte7i6ely_mondo_relaxed.owl Feingold syndrome 2|FS2|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2|microcephaly-digital anomalies-normal intelligence syndrome type 2|MMT type 2|FGLDS2|Brunner-Winter syndrome type 2|Feingold syndrome type 2|brachydactyly-short stature-microcephaly syndrome|brachydactyly with short stature and microcephaly UMLS:C3280489|ICD10:Q87.8|Orphanet:1305|OMIM:614326|Orphanet:391646 owl:Class HGNC:23564 biolink:NamedThing MIR17HG tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032782 biolink:NamedThing bile acid secretion The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1480 biolink:NamedThing CAPN3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001442 biolink:NamedThing skeleton of manus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003618 biolink:NamedThing aorta tunica media tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036289 biolink:NamedThing anterior wall of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003945 biolink:NamedThing bone epithelioid hemangioma A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. tmpte7i6ely_mondo_relaxed.owl epithelioid hemangioma of bone|osseous hemangioma|osseous epithelioid hemangioma|bone epithelioid angioma|hemangioma of bone|bone hemangioma|epithelioid angioma of bone|bone epithelioid hemangioma|osseous epithelioid angioma|epithelioid hemangioma of the bone|epithelioid angioma of the bone EFO:1000132|DOID:6610|UMLS:C1332578|NCIT:C5396|UMLS:C1332575 Editor note: DO classifies this as benign owl:Class UBERON:0002204 biolink:NamedThing musculoskeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0040011 biolink:NamedThing locomotion Self-propelled movement of a cell or organism from one location to another. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000869 biolink:NamedThing area of scrub An area of a planet's surface which is primarily covered by a shrubs, young trees, or stunted trees.. The surfaces of this area are in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpte7i6ely_mondo_relaxed.owl area of shrub owl:Class MONDO:0009943 biolink:NamedThing Pyle disease Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. tmpte7i6ely_mondo_relaxed.owl metaphyseal dysplasia, Pyle type|Bakwin-Krida syndrome|Pyle's syndrome|chondrodysplasia calcificans metaphysealis|Pyle's disease|metaphyseal dysplasia Pyle type|metaphyseal dysplasia|Pyle disease|Pyl|Pyle-Cohn syndrome OMIM:215050|SCTID:27837003|DOID:0080019|GARD:0004612|ICD10:Q78.5|Orphanet:3005|OMIM:265900|ICD9:758.5|MESH:C536252 owl:Class MONDO:0010281 biolink:NamedThing Danon disease Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. tmpte7i6ely_mondo_relaxed.owl glycogen storage disease type 2b (formerly)|GSD IIb, formerly|Antopol disease|ANTOPOL disease|LAMP2 lysosomal glycogen storage disease|lysosomal glycogen storage disease without acid maltase deficiency|GSD IIb|pseudoglycogenosis 2|Danon disease|GSD due to LAMP-2 deficiency|GSD2B (formerly)|pseudoglycogenosis II|glycogen storage cardiomyopathy|vacuolar cardiomyopathy and myopathy X-linked|glycogenosis due to LAMP-2 deficiency|glycogen storage disease IIb|vacuolar cardiomyopathy and myopathy, X-linked|glycogen storage disease limited to the heart|lysosomal glycogen storage disease caused by mutation in LAMP2|glycogen storage disease due to LAMP-2 deficiency|glycogen storage disease type IIb|lysosomal glycogen storage disease with normal acid maltase activity|lysosomal glycogen storage disease without acid maltase deficiency, formerly|lysosomal glycogen storage disease without acid maltase deficiency (formerly)|X-linked vacuolar cardiomyopathy and myopathy OMIM:300257|EFO:1001333|UMLS:C0878677|ICD9:759.89|GARD:0009730|SCTID:419097006|NCIT:C84735|Orphanet:34587|DOID:0050437|ICD10:E74.0|MESH:D052120 https://rarediseases.info.nih.gov/diseases/9730/danon-disease owl:Class HGNC:6501 biolink:NamedThing LAMP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002390 biolink:NamedThing hematopoietic system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003061 biolink:NamedThing blood island tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012355 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 28 An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl DFNB28|TRIOBP autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 28|autosomal recessive deafness 28|autosomal recessive nonsyndromic deafness 28|autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP|deafness, autosomal recessive type 28|deafness, autosomal recessive 28 ICD10:H90.3|UMLS:C1853276|MESH:C565218|DOID:0110486|NCIT:C129023|OMIM:609823 owl:Class HGNC:17009 biolink:NamedThing TRIOBP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006562 biolink:NamedThing pharynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018255 biolink:NamedThing jejunal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001182 biolink:NamedThing superior mesenteric artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009833 biolink:NamedThing Shwachman-Diamond syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. tmpte7i6ely_mondo_relaxed.owl lipomatosis of pancreas, congenital|Shwachman syndrome|congenital lipomatosis of pancreas|Shwachman-Bodian-Diamond syndrome|SDS|Schwachmann-Diamond syndrome|Schwachman-Diamond syndrome|Shwachman-Bodian syndrome|Shwachman-Diamond type metaphyseal dysplasia|pancreatic insufficiency and bone marrow dysfunction|Shwachman-Diamond syndrome OMIMPS:260400|MedDRA:10067940|ICD10:D61.0|GARD:0004863|DOID:0080023|SCTID:89454001|NCIT:C61235|DOID:0060479|OMIM:260400|Orphanet:811|MESH:C537330 MONDO:0000843 https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome owl:Class UBERON:0009010 biolink:NamedThing periurethral tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018460 biolink:NamedThing Eales disease Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. tmpte7i6ely_mondo_relaxed.owl idiopathic obliterative vasculopathy|idiopathic retinal vasculitis|idiopathic recurrent vitreal hemorrhage|idiopathic retinal perivasculitis ICD10:H35.0|Orphanet:40923|UMLS:C0271073|MedDRA:10057429|SCTID:54122009|GARD:0006309|MESH:C538011 https://rarediseases.info.nih.gov/diseases/6309/eales-disease owl:Class HP:0000726 biolink:NamedThing Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. tmpte7i6ely_mondo_relaxed.owl Dementia|Dementia, progressive|Progressive dementia MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327 HP:0007122|HP:0007150|HP:0002274|HP:0007283 human_phenotype owl:Class UBERON:0036328 biolink:NamedThing wall of coronary artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001621 biolink:NamedThing coronary artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013148 biolink:NamedThing Brugada syndrome 8 Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene. tmpte7i6ely_mondo_relaxed.owl Brugada syndrome 8|BRGDA8|HCN4 Brugada syndrome|Brugada syndrome caused by mutation in HCN4|Brugada syndrome type 8 OMIM:613123|Orphanet:130|DOID:0110225|MESH:C567732|UMLS:C2751083|ICD10:I49.8 owl:Class HGNC:16882 biolink:NamedThing HCN4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013402 biolink:NamedThing retinitis pigmentosa 27 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in NRL|retinitis pigmentosa 27|retinitis pigmentosa type 27|retinal Degeneration, autosomal recessive, Clumped pigment type|NRL retinitis pigmentosa|RP27 MESH:C563526|DOID:0110397|ICD10:H35.5|OMIM:613750|UMLS:C1834329 owl:Class HGNC:8002 biolink:NamedThing NRL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010452 biolink:NamedThing intellectual disability, X-linked 90 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 90|intellectual disability, X-linked 90|MRX90|non-syndromic X-linked intellectual disability caused by mutation in DLG3|DLG3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 90|mental retardation, X-linked type 90 UMLS:C3275443|OMIM:300850 owl:Class HGNC:2902 biolink:NamedThing DLG3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022948 biolink:NamedThing Deal Barratt Dillon syndrome tmpte7i6ely_mondo_relaxed.owl Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea UMLS:C2931773|MESH:C538206 owl:Class HP:0000952 biolink:NamedThing Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. tmpte7i6ely_mondo_relaxed.owl Yellowing of the skin|Jaundice|Icterus|Yellow skin SNOMEDCT_US:18165001|MSH:D007565|UMLS:C0022346 human_phenotype owl:Class MONDO:0010318 biolink:NamedThing FG syndrome 4 Any FG syndrome in which the cause of the disease is a mutation in the CASK gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, with or without Nystagmus|X-linked intellectual disability with or without nystagmus|FG syndrome 4|FG syndrome caused by mutation in cask|cask FG syndrome|FG syndrome caused by mutation in CASK|CASK FG syndrome|FG syndrome type 4|FGS4|intellectual disability, X-linked, with or without Nystagmus Orphanet:323|OMIM:300422|GARD:0009925|UMLS:CN033933 https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus owl:Class HGNC:1497 biolink:NamedThing CASK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000335 biolink:NamedThing parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy. tmpte7i6ely_mondo_relaxed.owl DOID:0050490 owl:Class HsapDv:0000101 biolink:NamedThing 7-year-old human stage Child stage that refers to a child who is over 7 and under 8 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000100 biolink:NamedThing 6-year-old human stage Child stage that refers to a child who is over 6 and under 7 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013961 biolink:NamedThing hypogonadotropic hypogonadism 16 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in SEMA3A|SEMA3A hypogonadotropic hypogonadism|HH16|hypogonadotropic hypogonadism 16 with or without anosmia UMLS:C3554021|DOID:0090080|ICD10:E23.0|OMIM:614897 owl:Class HGNC:10723 biolink:NamedThing SEMA3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009736 biolink:NamedThing Neu-Laxova syndrome 1 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. tmpte7i6ely_mondo_relaxed.owl 3-Phosphoglycerate dehydrogenase deficiency, neonatal form|Neu-Laxova syndrome type 1|Neu-Laxova syndrome|Neu-Laxova syndrome 1|NLS1|Neu-Laxova syndrome caused by mutation in PHGDH|PHGDH Neu-Laxova syndrome UMLS:C0265218|ICD10:Q87.8|MESH:C536405|OMIM:616038|DOID:0080076|OMIM:256520|UMLS:CN032230 owl:Class HGNC:8923 biolink:NamedThing PHGDH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004443 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:64049 biolink:NamedThing food acidity regulator A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents. tmpte7i6ely_mondo_relaxed.owl pH control agent|food acidity regulators|pH control agents|acidity regulator|acidity regulators owl:Class GO:0000981 biolink:NamedThing DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. tmpte7i6ely_mondo_relaxed.owl RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding|metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated proximal promoter sequence-specific DNA binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding|RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity|RNA polymerase II transcription factor activity, sequence-specific DNA binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, zinc ion regulated proximal promoter sequence-specific DNA binding|transcription factor|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity owl:Class GO:0000785 biolink:NamedThing chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. tmpte7i6ely_mondo_relaxed.owl nuclear chromatin|chromosome scaffold|cytoplasmic chromatin owl:Class UBERON:0002423 biolink:NamedThing hepatobiliary system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011919 biolink:NamedThing autoimmune disease, susceptibility to, 1 Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. tmpte7i6ely_mondo_relaxed.owl autoimmune disease caused by mutation in FOXD3|autoimmune disease susceptibility locus, chromosome 1P-related|vitiligo-associated multiple autoimmune disease susceptibility 2|autoimmune disease, susceptibility to, type 1|susceptibility to autoimmune disease 1|AIS1|FOXD3 autoimmune disease|autoimmune disease, susceptibility to, 1 OMIM:607836 owl:Class HGNC:3804 biolink:NamedThing FOXD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100010 biolink:NamedThing tendinopathy Disorders that are causes by overuse of tendons. tmpte7i6ely_mondo_relaxed.owl tendon disease or disorder|disease of tendon|disease or disorder of tendon|tendon disease|disorder of tendon 2018-07-17 15:51:39+00:00 SCTID:68172002|EFO:1001434 owl:Class UBERON:0000043 biolink:NamedThing tendon tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000746 biolink:NamedThing cardiac muscle cell Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei. tmpte7i6ely_mondo_relaxed.owl cardiocyte|cardiac myocyte|cardiomyocyte|cardiac muscle fiber|heart muscle cell CALOHA:TS-0115|FMA:14067|BTO:0001539 This class encompasses the muscle cells responsible for heart* contraction in both vertebrates and arthropods. The ultrastucture of a wide range of arthropod heart cells has been examined including spiders, horseshoe crabs, crustaceans (see Sherman, 1973 and refs therein) and insects (see Lehmacher et al (2012) and refs therein). According to these refs, the cells participating in heart contraction in all cases are transversely striated. Insects hearts additionally contain ostial cells, also transversely striated muscle cells, but which do not participate in heart contraction. FMA:83808 cell owl:Class UBERON:0000059 biolink:NamedThing large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005733 biolink:NamedThing limb field tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004347 biolink:NamedThing limb bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0032748 biolink:NamedThing sacral spinal cord ventral horn tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006947 biolink:NamedThing male genital duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001968 biolink:NamedThing semen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014456 biolink:NamedThing autosomal recessive severe congenital neutropenia due to JAGN1 deficiency tmpte7i6ely_mondo_relaxed.owl neutropenia, severe congenital, 6, autosomal recessive|SCN6 Orphanet:423384|UMLS:C4014954|ICD10:D70|OMIM:616022 owl:Class HGNC:26926 biolink:NamedThing JAGN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033631 biolink:NamedThing combined oxidative phosphorylation deficiency 51 tmpte7i6ely_mondo_relaxed.owl COXPD51 OMIM:619057 owl:Class HGNC:24717 biolink:NamedThing PTCD3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045862 biolink:NamedThing positive regulation of proteolysis Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpte7i6ely_mondo_relaxed.owl up-regulation of proteolysis|activation of proteolysis|up regulation of proteolysis|positive regulation of peptidolysis|upregulation of proteolysis|stimulation of proteolysis owl:Class GO:0006508 biolink:NamedThing proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. tmpte7i6ely_mondo_relaxed.owl peptidolysis|ATP-dependent proteolysis owl:Class UBERON:0002241 biolink:NamedThing chondrocranium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009635 biolink:NamedThing microvillus inclusion disease Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium. tmpte7i6ely_mondo_relaxed.owl congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|Davidson's disease|congenital microvillus atrophy|DIAR2|familial enteropathy, microvillus|diarrhea 2, with microvillus atrophy|intractable diarrhea of infancy|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|congenital microvillous atrophy|microvillus inclusion disease|secretory diarrhea caused by mutation in MYO5B|diarrhea 2 with microvillus atrophy|microvillus atrophy, congenital|congenital familial protracted diarrhea|microvillous inclusion disease|Davidson disease|MVD|MYO5B secretory diarrhea|MVID SCTID:235729009|OMIM:251850|MedDRA:10068494|DOID:0060775|GARD:0007039|ICD10:P78.3|ICD9:579.8|Orphanet:2290|UMLS:C0341306 owl:Class HGNC:7603 biolink:NamedThing MYO5B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014890 biolink:NamedThing PERCHING syndrome Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene. tmpte7i6ely_mondo_relaxed.owl cold-induced sweating syndrome caused by mutation in KLHL7|cold-induced sweating syndrome type 3|KLHL7 cold-induced sweating syndrome|PERCHING|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities|CRISPONI/cold-induced sweating syndrome 3|Crisponi/cold-induced sweating syndrome 3|CISS3|cold-induced sweating syndrome 3 UMLS:C4310742|OMIM:617055|DOID:0080331 owl:Class HGNC:15646 biolink:NamedThing KLHL7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018767 biolink:NamedThing severe primary trimethylaminuria Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene. tmpte7i6ely_mondo_relaxed.owl fish odor syndrome|stale fish syndrome|TMAuria|fish-odor syndrome|TMAU|fish malodor syndrome HP:0003614|GARD:0006447|MESH:C536561|OMIM:602079|Orphanet:468726|DOID:0080361|ICD10:E88.8 https://github.com/monarch-initiative/mondo/issues/3448 owl:Class HGNC:3771 biolink:NamedThing FMO3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035662 biolink:NamedThing parotid vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008401 biolink:NamedThing pleomorphic adenoma A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma). tmpte7i6ely_mondo_relaxed.owl salivary gland adenoma, pleomorphic|tumor, mixed, benign|Sgpa|pleomorphic salivary gland adenoma|pleomorphic adenoma (morphologic abnormality)|Psa|mixed tumor of the salivary gland|pleomorphic adenoma MESH:D008949|NCIT:C8602|ICDO:8940/0|DOID:452|OMIM:181030|SCTID:447888006|Orphanet:454821|EFO:1000384|ICD10:D11.0 owl:Class HGNC:9045 biolink:NamedThing PLAG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002649 biolink:NamedThing scrotum Paget disease A mammary Paget's disease that involves the scrotum. tmpte7i6ely_mondo_relaxed.owl scrotum Paget disease|Paget's disease of scrotum|Paget disease of the scrotum|scrotal Paget's disease|scrotum Paget's disease|Paget's disease of the scrotum|scrotum mammary Paget's disease NCIT:C7728|DOID:3444|UMLS:C0238330 owl:Class UBERON:0004000 biolink:NamedThing tarsal gland acinus tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9002063 biolink:NamedThing exposure to food component An exposure to food component. tmpte7i6ely_mondo_relaxed.owl exposure to food component owl:Class MONDO:0010060 biolink:NamedThing infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. tmpte7i6ely_mondo_relaxed.owl TWNK autosomal recessive degenerative and progressive cerebellar ataxia|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|IOSCA|MTDPS7|OHAHA syndrome|SCA8 (formerly)|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|Ohaha syndrome|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia, infantile-onset|spinocerebellar ataxia 8, formerly|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|spinocerebellar ataxia infantile with sensory neuropathy|mitochondrial DNA depletion syndrome type 7|mitochondrial DNA depletion syndrome 7|spinocerebellar ataxia 8 (formerly)|spinocerebellar ataxia 8|autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK MESH:C535523|UMLS:C1849096|GARD:0004062|DOID:0080126|ICD10:G11.1|DOID:0050556|SCTID:724227000|OMIM:271245|Orphanet:1186 Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5 owl:Class HGNC:1160 biolink:NamedThing TWNK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041447 biolink:NamedThing metastatic malignant neoplasm in the colon The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site. tmpte7i6ely_mondo_relaxed.owl metastatic neoplasm to the colon|metastatic malignant neoplasm to the colon|metastatic tumor to the colon|metastatic malignant neoplasm in the colon NCIT:C8411|UMLS:C0346974 owl:Class ECTO:0000481 biolink:NamedThing exposure to transition element An exposure to transition element molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to transition element molecular entity owl:Class CHEBI:33497 biolink:NamedThing transition element molecular entity A molecular entity containing one or more atoms of a transition element. tmpte7i6ely_mondo_relaxed.owl transition metal molecular entity|transition element molecular entities owl:Class HsapDv:0000110 biolink:NamedThing 16-year-old human stage Adolescent stage that refers to an adolescent who is over 16 and under 17 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000109 biolink:NamedThing 15-year-old human stage Adolescent stage that refers to an adolescent who is over 15 and under 16 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011095 biolink:NamedThing dilated cardiomyopathy 1D Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpte7i6ely_mondo_relaxed.owl left ventricular noncompaction 6|cardiomyopathy, dilated, type 1D|familial isolated dilated cardiomyopathy caused by mutation in TNNT2|dilated cardiomyopathy type 1D|CMD1D|dilated cardiomyopathy 1D|cardiomyopathy, dilated, 1D|TNNT2 familial isolated dilated cardiomyopathy Orphanet:154|Orphanet:54260|ICD10:I42.0|UMLS:C1832243|OMIM:601494|MESH:C563306|DOID:0110426 owl:Class HGNC:11949 biolink:NamedThing TNNT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014026 biolink:NamedThing congenital stationary night blindness 1F Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene. tmpte7i6ely_mondo_relaxed.owl congenital stationary night blindness type 1F|CSNB1F|LRIT3 congenital stationary night blindness|congenital stationary night blindness 1F autosomal recessive|night blindness, congenital stationary, type 1F|congenital stationary night blindness caused by mutation in LRIT3 OMIM:615058|UMLS:C3554399|Orphanet:215|DOID:0110864 owl:Class HGNC:24783 biolink:NamedThing LRIT3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000945 biolink:NamedThing lymphocyte of B lineage A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. tmpte7i6ely_mondo_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). cell owl:Class UBERON:0010191 biolink:NamedThing aortic system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010344 biolink:NamedThing 3rd arch mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005690 biolink:NamedThing 3rd arch mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015635 biolink:NamedThing porokeratotic eccrine ostial and dermal duct nevus A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. tmpte7i6ely_mondo_relaxed.owl Porokeratotic eccrine nevus|Porokeratotic eccrine duct and hair follicle Nevus|linear eccrine Nevus with comedones|comedo nevus of the palm ICD10:Q82.5|SCTID:239118007|UMLS:C0473579|Orphanet:166286|NCIT:C4740 owl:Class UBERON:0004276 biolink:NamedThing fourth ventricle choroid plexus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002422 biolink:NamedThing fourth ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001069 biolink:NamedThing metallic material A material which is composed primarily of one or more pure metals and which shows their properties. tmpte7i6ely_mondo_relaxed.owl metal owl:Class CHEBI:15022 biolink:NamedThing electron donor A molecular entity that can transfer an electron to another molecular entity. tmpte7i6ely_mondo_relaxed.owl Elektronendonator|electron donor|donneur d'electron owl:Class UBERON:0005496 biolink:NamedThing neural tube lateral wall tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17544 biolink:NamedThing hydrogencarbonate The carbon oxoanion resulting from the removal of a proton from carbonic acid. tmpte7i6ely_mondo_relaxed.owl BICARBONATE ION|[CO2(OH)](-)|Bicarbonate|hydrogen(trioxidocarbonate)(1-)|HCO3-|hydrogentrioxocarbonate(IV)|hydrogencarbonate|hydroxidodioxidocarbonate(1-)|hydrogen carbonate|hydrogencarbonate(1-)|Hydrogencarbonate|Acid carbonate|hydrogentrioxocarbonate(1-)|HCO3(-) owl:Class UBERON:0004691 biolink:NamedThing bulbourethral gland secretion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014859 biolink:NamedThing developmental and epileptic encephalopathy, 37 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene. tmpte7i6ely_mondo_relaxed.owl DEE37|epileptic encephalopathy, early infantile, 37|FRRS1L early infantile epileptic encephalopathy|EIEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, type 37|epileptic encephalopathy, early infantile, 37; EIEE37 DOID:0080435|UMLS:C4310770|OMIM:616981 owl:Class HGNC:1362 biolink:NamedThing FRRS1L tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001052 biolink:NamedThing kidney cortex vein cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001084 cell owl:Class MONDO:0044660 biolink:NamedThing menstrual cycle-dependent periodic fever tmpte7i6ely_mondo_relaxed.owl menstrual cycle-dependent febrile episode|periodic fever, menstrual cycle-dependent|luteal-phase-dependent febrile episode|luteal-phase-dependent periodic fever OMIM:614674|UMLS:C3553418|Orphanet:498251 owl:Class HGNC:5286 biolink:NamedThing HTR1A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001130 biolink:NamedThing vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018734 biolink:NamedThing verrucous hemangioma A skin hemangioma characterized by the presence of epidermal hyperplasia. tmpte7i6ely_mondo_relaxed.owl verrucous keratotic hemangioma (morphologic abnormality)|verrucous keratotic hemangioma UMLS:CN242156|DOID:470|NCIT:C4299|Orphanet:464318|UMLS:C0334540|ICDO:9142/0|ICD10:D18.0 owl:Class MONDO:0010664 biolink:NamedThing syndromic X-linked intellectual disability Snyder type Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability, Snyder type|intellectual disability, X-linked, syndromic, Snyder-Robinson type|Snyder-Robinson intellectual disability syndrome|intellectual disability, X-linked, Snyder-Robinson type|spermine synthase deficiency|mental retardation, X-linked, syndromic, Snyder-Robinson type|X-linked intellectual disability Snyder-Robinson type|syndromic X-linked intellectual disability Snyder type|Snyder-Robinson mental retardation syndrome|MRXSSR|mental retardation, X-linked, Snyder-Robinson type|Snyder-Robinson syndrome|SRS|X-linked mental retardation Snyder-Robinson type GARD:0005615|UMLS:C0796160|ICD10:Q87.8|OMIM:309583|Orphanet:3063|ICD9:758.89|SCTID:702416008|DOID:0060802|MESH:C536678 owl:Class HGNC:11123 biolink:NamedThing SMS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004647 biolink:NamedThing liver lobule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012468 biolink:NamedThing anal tooth tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007181 biolink:NamedThing serosa of infundibulum of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003983 biolink:NamedThing conus arteriosus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030017 biolink:NamedThing sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010339 biolink:NamedThing 1st arch mandibular mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001089 biolink:NamedThing aerosolised solids An aerosol which has non-gaseous parts that are primarily composed of solid particles. tmpte7i6ely_mondo_relaxed.owl solid aerosol owl:Class N1389845b8dfa49deb82c440126017b91 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003223 biolink:NamedThing meninges hemangiopericytoma A solitary fibrous tumor/hemangiopericytoma that arises from the meninges. tmpte7i6ely_mondo_relaxed.owl hemangiopericytoma of meninges|meningeal solitary fibrous tumor/hemangiopericytoma|meningeal hemangiopericytoma|meningeal cluster spindle cell tumor|meninges hemangiopericytoma|hemangiopericytoma of the meninges|hemangiopericytoma of the central nervous system|meningeal cluster hemangiopericytoma SCTID:277522009|NCIT:C4660|DOID:4957|UMLS:C0349622|ONCOTREE:HPCCNS owl:Class UBERON:0010743 biolink:NamedThing meningeal cluster tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009561 biolink:NamedThing alpha-mannosidosis Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl mannosidosis, ALPHA B, lysosomal|lysosomal alpha-D-mannosidase deficiency|Alpha-mannosidase B deficiency|mannosidosis, alpha B lysosomal|lysosomal Alpha-D-mannosidase deficiency|Alpha mannosidase B deficiency|deficiency of alpha-mannosidase|alpha-mannosidosis|Alpha-D-mannosidosis|alpha-mannosidase deficiency|MANSA Orphanet:61|DOID:3413|ICD9:271.8|ICD10:E77.1|SCTID:65524005|GARD:0006968|UMLS:C0024748|NCIT:C84548|OMIM:248500|MESH:D008363 https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis owl:Class GO:0004559 biolink:NamedThing alpha-mannosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. tmpte7i6ely_mondo_relaxed.owl 1,2-alpha-mannosidase|exo-alpha-mannosidase activity|alpha-D-mannopyranosidase activity|p-nitrophenyl-alpha-mannosidase activity|alpha-D-mannosidase activity|alpha-D-mannoside mannohydrolase activity|1,2-alpha-D-mannosidase activity owl:Class HGNC:10593 biolink:NamedThing SCN5A tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7q11.2 biolink:NamedThing 7q11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 77900000 62100000 hg38 owl:Class OBO:CHR_9606-chr7q11 biolink:NamedThing 7q11 (Human) tmpte7i6ely_mondo_relaxed.owl 77900000 60100000 hg38 owl:Class CL:0000170 biolink:NamedThing glucagon secreting cell A cell that secretes glucagon. tmpte7i6ely_mondo_relaxed.owl glucagon-secreting cell FMA:84045 cell owl:Class CL:1000416 biolink:NamedThing myoepithelial cell of lactiferous gland A myoepithelial cell that is part of the mammary gland. tmpte7i6ely_mondo_relaxed.owl basal cell of lactiferous duct CALOHA:TS-2378|FMA:67800 cell owl:Class MONDO:0004168 biolink:NamedThing cribriform variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. tmpte7i6ely_mondo_relaxed.owl testicular seminoma, cribriform variant NCIT:C40957|DOID:7269|UMLS:C1515292 owl:Class NCIT:C35920 biolink:NamedThing Cribriform Pattern tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012808 biolink:NamedThing dilated cardiomyopathy 1AA Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|ACTN2 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1AA|CMD1AA|familial isolated dilated cardiomyopathy caused by mutation in ACTN2|cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|dilated cardiomyopathy 1AA with or without left ventricular noncompaction OMIM:612158|UMLS:C2677338|MESH:C567407|DOID:0110428|ICD10:I42.0 owl:Class HGNC:164 biolink:NamedThing ACTN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002572 biolink:NamedThing aspiration pneumonitis Inflammation of the lungs due to the inhalation of solid or liquid material. tmpte7i6ely_mondo_relaxed.owl chemical pneumonitis|aspiration pneumonia SCTID:155597006|UMLS:C1761609|ICD10:J69.0|DOID:3240|NCIT:C34932 owl:Class HP:0002789 biolink:NamedThing Tachypnea Very rapid breathing. tmpte7i6ely_mondo_relaxed.owl Polypnea|Increased respiratory rate or depth of breathing MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003 In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. HP:0002874|HP:0004346 human_phenotype owl:Class MONDO:0013585 biolink:NamedThing hydrolethalus syndrome 2 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene. tmpte7i6ely_mondo_relaxed.owl hydrolethalus syndrome caused by mutation in KIF7|KIF7 hydrolethalus syndrome|hydrolethalus syndrome 2|HLS2|hydrolethalus syndrome type 2 Orphanet:2189|OMIM:614120|UMLS:C3279899|DOID:0111356 owl:Class HGNC:30497 biolink:NamedThing KIF7 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004737 biolink:NamedThing pyruvate decarboxylase activity Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2. tmpte7i6ely_mondo_relaxed.owl pyruvic decarboxylase activity|alpha-carboxylase activity|2-oxo-acid carboxy-lyase (aldehyde-forming)|alpha-ketoacid carboxylase activity|2-oxo-acid carboxy-lyase activity owl:Class MONDO:0024642 biolink:NamedThing gastric neuroendocrine tumor G2 A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. tmpte7i6ely_mondo_relaxed.owl gastric neuroendocrine tumor G2|gastric NET G2 NCIT:C95880|UMLS:C3272407 owl:Class MONDO:0024492 biolink:NamedThing tumor grade 2, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. tmpte7i6ely_mondo_relaxed.owl moderately differentiated|G2|grade 2|grade II|intermediate grade NCIT:C28078|EFO:0005746 owl:Class MONDO:0014246 biolink:NamedThing episodic pain syndrome, familial, 2 Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene. tmpte7i6ely_mondo_relaxed.owl SCN10A familial episodic pain syndrome|FEPS2|familial episodic pain syndrome caused by mutation in SCN10A|episodic pain syndrome, familial, type 2|episodic pain syndrome, familial, 2 UMLS:C3809893|Orphanet:306577|OMIM:615551|DOID:0111730 owl:Class HGNC:10582 biolink:NamedThing SCN10A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003314 biolink:NamedThing endometrioid stromal and related neoplasms of the vagina A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. tmpte7i6ely_mondo_relaxed.owl endometrioid stromal and related neoplasms of vagina|vaginal endometrial stromal tumor|vagina endometrioid stromal and related neoplasms|endometrioid stromal and related tumors of the vagina|endometrioid stromal and related neoplasms of the vagina NCIT:C40269|UMLS:C4289585|DOID:5171 owl:Class MONDO:0004223 biolink:NamedThing polyp of middle ear A benign polypoid growth in the middle ear. tmpte7i6ely_mondo_relaxed.owl polyp of the middle ear|polyp - middle ear|middle ear polyp|middle Ear polyp UMLS:C0271466|DOID:7439|NCIT:C6933|SCTID:73103007|ICD10:H74.4 owl:Class UBERON:0001756 biolink:NamedThing middle ear tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007601 biolink:NamedThing ciliated epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061041 biolink:NamedThing regulation of wound healing Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042060 biolink:NamedThing wound healing The series of events that restore integrity to a damaged tissue, following an injury. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045982 biolink:NamedThing negative regulation of purine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases. tmpte7i6ely_mondo_relaxed.owl downregulation of purine base metabolic process|negative regulation of purine base metabolic process|inhibition of purine base metabolic process|down regulation of purine base metabolic process|negative regulation of purine base metabolism|down-regulation of purine base metabolic process owl:Class GO:0006144 biolink:NamedThing purine nucleobase metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. tmpte7i6ely_mondo_relaxed.owl purine base metabolism|purine metabolic process|purine base metabolic process|purine metabolism owl:Class CHEBI:15379 biolink:NamedThing dioxygen tmpte7i6ely_mondo_relaxed.owl [OO]|E-948|molecular oxygen|dioxygen|dioxygene|OXYGEN MOLECULE|E948|Oxygen|O2|Disauerstoff|E 948 owl:Class UBERON:0001912 biolink:NamedThing lobule of mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005967 biolink:NamedThing mitochondrial pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. tmpte7i6ely_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide) owl:Class MONDO:0009563 biolink:NamedThing maple syrup urine disease An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. tmpte7i6ely_mondo_relaxed.owl maple syrup urine disease, type 2|BCKD deficiency|maple syrup urine disease, Intermediate|BCKDH deficiency|branched-chain 2-ketoacid dehydrogenase deficiency|maple syrup urine disease, thiamine-responsive|branched chain ketoaciduria|MSUD|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, classic|maple syrup urine disease, type 1B|Keto acid decarboxylase deficiency|maple syrup urine disease|branched-chain ketoaciduria|branched-chain Alpha-Keto acid dehydrogenase deficiency|Ketoacidaemia|maple syrup urine disease, type 1A|maple syrup urine disease, intermittent UMLS:C0024776|MedDRA:10026817|Orphanet:268184|OMIM:615135|MESH:D008375|GARD:0003228|Orphanet:268173|Orphanet:511|OMIM:246900|SCTID:27718001|OMIMPS:248600|OMIM:248600|Orphanet:268162|Orphanet:268145|NCIT:C34806|DOID:9269|ICD10:E71.0 Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct owl:Class HP:0010864 biolink:NamedThing Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. tmpte7i6ely_mondo_relaxed.owl Early and severe mental retardation|Intellectual disability, severe|Mental retardation, severe|Severe mental retardation UMLS:C0036857|SNOMEDCT_US:40700009 Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. peter 2010-08-03T06:29:35Z HP:0007196 human_phenotype owl:Class MONDO:0014012 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth neuropathy type 2Q|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|CMT2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|autosomal dominant Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy, type 2Q|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth disease type 2Q|DHTKD1 Charcot-Marie-Tooth disease UMLS:C3554366|Orphanet:329258|DOID:0110170|OMIM:615025|GARD:0012446|ICD10:G60.0 owl:Class HGNC:23537 biolink:NamedThing DHTKD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006042 biolink:NamedThing meningeal tuberculosis A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. tmpte7i6ely_mondo_relaxed.owl TB meningitis NCIT:C84888|GARD:0007828|UMLS:C0041318|MESH:D014390|EFO:1000039 owl:Class HGNC:13503 biolink:NamedThing ZBTB20 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5318 biolink:NamedThing TNC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008293 biolink:NamedThing porokeratosis 3, disseminated superficial actinic type tmpte7i6ely_mondo_relaxed.owl porokeratosis 3, multiple types|Dsap|DSAP1|porokeratosis, disseminated superficial actinic, 1|porokeratosis 3, disseminated superficial actinic type|POROK3|porokeratosis, disseminated superficial actinic 1 OMIM:175900|GARD:0009505|MESH:C536339|Orphanet:79152 owl:Class HGNC:7530 biolink:NamedThing MVK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021032 biolink:NamedThing herpes zoster with dermatitis of eyelid A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve. tmpte7i6ely_mondo_relaxed.owl Herpes Zoster Dermatitis of Eyelid|herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelid|herpes zoster dermatitis of eyelids|Herpes zoster dermatitis of eyelids|Herpes zoster with dermatitis of eyelid ICD9:053.20|UMLS:C0019362|NCIT:C34696|SCTID:186525007 owl:Class UBERON:0000991 biolink:NamedThing gonad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014436 biolink:NamedThing Bardet-Biedl syndrome 8 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in TTC8|Bardet-Biedl syndrome type 8|Bardet-Biedl syndrome 8|BBS8|TTC8 Bardet-Biedl syndrome ICD10:Q87.89|OMIM:615985|GARD:0010207|DOID:0110130|UMLS:C1859566|MESH:C565917|OMIM:209900 https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8 owl:Class HGNC:20087 biolink:NamedThing TTC8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008611 biolink:NamedThing ether lipid biosynthetic process The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. tmpte7i6ely_mondo_relaxed.owl plasmalogen biosynthetic process|ether lipid formation|ether lipid anabolism|ether lipid biosynthesis|ether lipid synthesis owl:Class OBO:CHR_9606-chrXq25 biolink:NamedThing Xq25 (Human) tmpte7i6ely_mondo_relaxed.owl 129500000 121800000 hg38 owl:Class UBERON:5006052 biolink:NamedThing digit 5 plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018919 biolink:NamedThing McCune-Albright syndrome McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP). tmpte7i6ely_mondo_relaxed.owl POFD|Albright's disease|PFD|MAS|polyostotic fibrous dysplasia|McCune Albright syndrome|gonadotropin-independent female-limited sexual precocity DOID:1858|ICD10:Q78.1|OMIM:174800|MESH:D005357|UMLS:C0016065|GARD:0006995|NCIT:C48627|UMLS:C0242292|SCTID:726029005|Orphanet:562 owl:Class MONDO:0018561 biolink:NamedThing precocious puberty in female A precocious puberty that involves the female organism. tmpte7i6ely_mondo_relaxed.owl precocious puberty of female organism|female organism precocious puberty UMLS:C0271616|Orphanet:435561|HP:0010465 owl:Class MONDO:0014686 biolink:NamedThing short stature, microcephaly, and endocrine dysfunction tmpte7i6ely_mondo_relaxed.owl short stature, microcephaly, and endocrine dysfunction|SSMED UMLS:C4225288|OMIM:616541 owl:Class HGNC:12831 biolink:NamedThing XRCC4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010204 biolink:NamedThing lysosomal acid lipase deficiency Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. tmpte7i6ely_mondo_relaxed.owl cholesterol ester hydrolase deficiency|lipa deficiency|lysosomal and lipase deficiency|cholesteryl ester storage disease|lysosomal acid lipase deficiency|LAL deficiency|Wolman disease MESH:C531854|GARD:0012097|OMIM:278000|SCTID:715923003|UMLS:C0043208|Orphanet:75233|Orphanet:75234|DOID:0080217|ICD10:E75.5|Orphanet:275761 owl:Class HGNC:6617 biolink:NamedThing LIPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016826 biolink:NamedThing methylmalonic aciduria and homocystinuria An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). tmpte7i6ely_mondo_relaxed.owl combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic aciduria with homocystinuria|methylmalonic acidemia and homocystinemia OMIM:277400|OMIM:614857|MESH:C537359|ICD10:E71.1|GARD:0003579|OMIM:277410|OMIMPS:277400|Orphanet:26|OMIM:277380 https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria owl:Class HP:0002912 biolink:NamedThing Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. tmpte7i6ely_mondo_relaxed.owl Elevated circulating methylmalonic acid concentration UMLS:C0268583|MSH:C537358|SNOMEDCT_US:42393006 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. HP:0003123|HP:0008295 human_phenotype owl:Class ENVO:00002261 biolink:NamedThing forest soil A portion of soil which is found in a forested area. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000111 biolink:NamedThing forested area An area with a high density of trees. A small forest may be called a wood. tmpte7i6ely_mondo_relaxed.owl forest|wood owl:Class UBERON:0002069 biolink:NamedThing stratum granulosum of epidermis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001003 biolink:NamedThing skin epidermis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014342 biolink:NamedThing female infertility due to zona pellucida defect Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. tmpte7i6ely_mondo_relaxed.owl oocyte maturation defect 1|OOMD|OOMD1|oocyte maturation defect UMLS:C4014291|ICD10:N97.8|Orphanet:404466|OMIM:615774 owl:Class HGNC:13187 biolink:NamedThing ZP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018606 biolink:NamedThing extensive peripapillary myelinated nerve fibers tmpte7i6ely_mondo_relaxed.owl UMLS:CN237640|Orphanet:440724 owl:Class UBERON:0013769 biolink:NamedThing uterine lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002537 biolink:NamedThing hermaphrodite gonad tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007283 biolink:NamedThing spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. tmpte7i6ely_mondo_relaxed.owl generation of spermatozoa owl:Class UBERON:0036269 biolink:NamedThing penis blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020553 biolink:NamedThing secondary pulmonary hemosiderosis Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography tmpte7i6ely_mondo_relaxed.owl Orphanet:99930|ICD10:J99.8*|ICD10:E83.1+|UMLS:C4274326|SCTID:716712004 owl:Class MONDO:0021296 biolink:NamedThing carcinoma in situ of renal pelvis A in situ carcinoma that involves the renal pelvis. tmpte7i6ely_mondo_relaxed.owl stage 0 renal pelvis carcinoma|stage 0is kidney pelvis carcinoma|stage 0is renal pelvis cancer aJCC v7|carcinoma in situ of kidney pelvis|stage 0is renal pelvis cancer|stage 0is carcinoma of renal pelvis|carcinoma in situ of the kidney pelvis|carcinoma in situ of the renal pelvis|renal pelvis carcinoma in situ|renal pelvis in situ carcinoma|stage 0is kidney renal pelvis urothelial cancer|stage 0is carcinoma of kidney pelvis|kidney pelvis carcinoma in situ|stage 0is renal pelvis urothelial carcinoma|stage 0is carcinoma of the kidney pelvis|carcinoma in situ of renal pelvis|stage 0is renal pelvis urothelial carcinoma aJCC v7|stage 0is carcinoma of the renal pelvis NCIT:C4597|SCTID:92697000|ICD9:233.9|UMLS:C0347184 owl:Class UBERON:0008817 biolink:NamedThing thymus primordium endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:16842 biolink:NamedThing formaldehyde An aldehyde resulting from the formal oxidation of methanol. tmpte7i6ely_mondo_relaxed.owl Oxomethane|FORMALIN|Oxomethylene|Formaldehyd|Methylene oxide|Formaldehyde|Formalin|formaldehyde|FORMALDEHYDE|Methanal owl:Class MONDO:0016151 biolink:NamedThing qualitative or quantitative defects of perlecan tmpte7i6ely_mondo_relaxed.owl Orphanet:207101 owl:Class HGNC:5273 biolink:NamedThing HSPG2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0090068 biolink:NamedThing positive regulation of cell cycle process Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022402 biolink:NamedThing cell cycle process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015053 biolink:NamedThing humerus endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012220 biolink:NamedThing Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. tmpte7i6ely_mondo_relaxed.owl hypomelanosis with no immunologic or neurologic manifestations|GS3|Griscelli disease type 3|Griscelli-PruniC)ras syndrome type 3|Griscelli-Pruniéras syndrome type 3|Griscelli syndrome type 3|Griscelli syndrome, type 3|Griscelli-Pruni��ras syndrome type 3 ICD10:E70.3|Orphanet:381|DOID:0060834|Orphanet:79478|UMLS:C1836573|OMIM:609227|GARD:0009715|MESH:C537303 https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3 owl:Class MONDO:0011377 biolink:NamedThing long QT syndrome 3 An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. tmpte7i6ely_mondo_relaxed.owl SCN5A long QT syndrome|long QT syndrome caused by mutation in SCN5A|LQT3|long QT syndrome type 3|long QT syndrome 3|long QT syndrome 3/6, digenic|long QT syndrome 2/3, digenic|long QT syndrome 3, acquired, susceptibility to UMLS:C1859062|DOID:0110646|NCIT:C137959|ICD10:I45.8|UMLS:C2931401|GARD:0003286|Orphanet:768|MESH:C565840|Orphanet:101016|OMIM:603830 https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 owl:Class HGNC:14004 biolink:NamedThing ANO3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013568 biolink:NamedThing sick sinus syndrome 3, susceptibility to Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene. tmpte7i6ely_mondo_relaxed.owl SSS3|susceptibility to sick sinus syndrome 3|sick sinus syndrome 3, susceptibility to|familial sick sinus syndrome caused by mutation in MYH6|MYH6 familial sick sinus syndrome Orphanet:166282|OMIM:614090 owl:Class MONDO:0001823 biolink:NamedThing sick sinus syndrome A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction. tmpte7i6ely_mondo_relaxed.owl sinus node infection|SSS Orphanet:166282|ICD10:I49.5|DOID:13884|SCTID:36083008|MESH:D012804|NCIT:C62244 owl:Class GO:0001706 biolink:NamedThing endoderm formation The formation of the endoderm during gastrulation. tmpte7i6ely_mondo_relaxed.owl endoblast formation owl:Class GO:0007492 biolink:NamedThing endoderm development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010092 biolink:NamedThing future metencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013721 biolink:NamedThing complement component 4a deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene. tmpte7i6ely_mondo_relaxed.owl C4AD|complement component 4a deficiency|classic complement early component deficiency caused by mutation in C4A|C4A deficiency|C4A classic complement early component deficiency|complement component 4A deficiency UMLS:C3280642|DOID:0060297|OMIM:614380|ICD10:D84.1|MESH:C565167|Orphanet:169147 owl:Class HGNC:1323 biolink:NamedThing C4A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001679 biolink:NamedThing ethmoid bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002370 biolink:NamedThing thymus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030217 biolink:NamedThing T cell differentiation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. tmpte7i6ely_mondo_relaxed.owl T cell development|T-cell differentiation|T-lymphocyte differentiation|T lymphocyte differentiation owl:Class HGNC:28596 biolink:NamedThing B3GALNT2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002632 biolink:NamedThing epithelial cell of lower respiratory tract tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-06-21T12:29:31Z cell owl:Class UBERON:0007384 biolink:NamedThing appendage lymph vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007304 biolink:NamedThing appendage vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009735 biolink:NamedThing Netherton syndrome Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. tmpte7i6ely_mondo_relaxed.owl Netherton syndrome|neth|Netherton disease|Comèl-Netherton syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE|bamboo hair syndrome|NS|Comel-Netherton syndrome OMIM:256500|GARD:0007182|MESH:D056770|SCTID:54336006|ICD10:Q80.8|NCIT:C84922|DOID:0050474|MedDRA:10062909|Orphanet:634|SCTID:312514006 https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome owl:Class HGNC:15464 biolink:NamedThing SPINK5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002109 biolink:NamedThing pair of nares tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000003 biolink:NamedThing naris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003843 biolink:NamedThing cerebral hemisphere lipoma A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl cerebral hemisphere lipoma|lipoma of the cerebral hemisphere|lipoma of cerebral hemisphere NCIT:C6220|UMLS:C1332907|DOID:6291 owl:Class UBERON:0001869 biolink:NamedThing cerebral hemisphere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001601 biolink:NamedThing Plasmodium ovale malaria An malaria caused by infection with Plasmodium ovale. tmpte7i6ely_mondo_relaxed.owl ovale malaria|Malariaby Plasmodium ovale DOID:12919|ICD10:B53.0|SCTID:19341001|ICD9:084.3|UMLS:C0152072 owl:Class NCBITaxon:36330 biolink:NamedThing Plasmodium ovale tmpte7i6ely_mondo_relaxed.owl malaria parasite P. ovale GC_ID:1|PMID:20380562 ncbi_taxonomy owl:Class CHEBI:46787 biolink:NamedThing solvent A liquid that can dissolve other substances (solutes) without any change in their chemical composition. tmpte7i6ely_mondo_relaxed.owl solvents|solvant|Loesungsmittel owl:Class MONDO:0013470 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 7 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene. tmpte7i6ely_mondo_relaxed.owl febrile seizures, familial, 3B|generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|GEFSP7|SCN9A generalized epilepsy with febrile seizures plus|Gefs+, type 7|generalized epilepsy with febrile seizures plus, type 7 OMIM:613863|Orphanet:36387|DOID:0111295|MESH:C567827 owl:Class HGNC:10597 biolink:NamedThing SCN9A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11596 biolink:NamedThing TBX19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0040654 biolink:NamedThing autosomal dominant oculocutaneous albinism Autosomal dominant form of oculocutaneous albinism. tmpte7i6ely_mondo_relaxed.owl oculocutaneous albinism, autosomal dominant|autosomal dominant oculocutaneous albinism SCTID:79417003 owl:Class CL:0002590 biolink:NamedThing smooth muscle cell of the brain vasculature A vascular associated smooth muscle cell of the brain vasculature. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:01:20Z cell owl:Class MONDO:0017572 biolink:NamedThing tick-borne encephalitis Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. tmpte7i6ely_mondo_relaxed.owl TBE|west-Siberian encephalitis|Tick-borne viral encephalitis|Siberian tick-borne encephalitis|Russian spring-summer encephalitis|Far Eastern TBE|taiga encephalitis|Western European tick-borne encephalitis|central European encephalitis DOID:0050175|ICD10:A84.1|MESH:D004675|UMLS:C0014061|ICD9:063.2|MedDRA:10043848|Orphanet:297|EFO:1001309|ICD10:A84.0|NCIT:C34579|ICD10:A84.9|ICD10:A84.8|GARD:0005216 https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis owl:Class HP:0003470 biolink:NamedThing Paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. tmpte7i6ely_mondo_relaxed.owl Paralysis|Inability to move SNOMEDCT_US:44695005|UMLS:C0522224|MSH:D010243 human_phenotype owl:Class GO:0009060 biolink:NamedThing aerobic respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009612 biolink:NamedThing methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. tmpte7i6ely_mondo_relaxed.owl methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|methylmalonyl-Coenzyme A mutase deficiency|vitamin B12-unresponsive methylmalonic acidemia|methylmalonic aciduria mut type|methylmalonic aciduria, mut(0) type|methylmalonyl-CoA mutase deficiency|vitamin B12-unresponsive methylmalonic aciduria|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, mut type|MCM deficiency|methylmalonic aciduria, mut(-) type Orphanet:79312|OMIM:251000|ICD10:E71.1|GARD:0003586|NCIT:C148366|Orphanet:289916|UMLS:C1855114|DOID:0060740|Orphanet:27 owl:Class HGNC:7526 biolink:NamedThing MMUT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015009 biolink:NamedThing lymphatic malformation 7 tmpte7i6ely_mondo_relaxed.owl hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|HFASD|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to OMIM:617300 owl:Class HGNC:3395 biolink:NamedThing EPHB4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020727 biolink:NamedThing combined oxidative phosphorylation deficiency 22 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 22|COXPD22|combined oxidative phosphorylation deficiency 22 OMIM:616045|DOID:0111498|Orphanet:254913 owl:Class HGNC:823 biolink:NamedThing ATP5F1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000225 biolink:NamedThing human monocytic ehrlichiosis A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages. tmpte7i6ely_mondo_relaxed.owl HME|Human ehrlichial infection, human monocytic type|human ehrlichiosis due to Ehrlichia chaffeensis|ehrlichiosis chafeensis|human ehrlichiosis caused by Ehrlichia chaffeensis UMLS:C1282983|ICD9:082.41|DOID:0050026|SCTID:359747000|GARD:0000072 https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis owl:Class NCBITaxon:34613 biolink:NamedThing Ixodes ricinus tmpte7i6ely_mondo_relaxed.owl castor bean tick GC_ID:1 ncbi_taxonomy owl:Class GO:0055074 biolink:NamedThing calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl regulation of calcium ion concentration owl:Class CL:0000557 biolink:NamedThing granulocyte monocyte progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. tmpte7i6ely_mondo_relaxed.owl granulocyte/monocyte precursor|colony forming unit granulocyte macrophage|CFU-GM|CFU-C , Colony forming unit in culture|GMP|granulocyte/monocyte progenitor|granulocyte-macrophage progenitor Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class UBERON:0001000 biolink:NamedThing vas deferens tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005352 biolink:NamedThing spermatic cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030336 biolink:NamedThing negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. tmpte7i6ely_mondo_relaxed.owl inhibition of cell migration|downregulation of cell migration|down regulation of cell migration|down-regulation of cell migration owl:Class GO:0016477 biolink:NamedThing cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014335 biolink:NamedThing diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome tmpte7i6ely_mondo_relaxed.owl MSCCA|diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome|microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Orphanet:404437|UMLS:C4014239|OMIM:615760|ICD10:G98 owl:Class HGNC:9751 biolink:NamedThing QARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000109 biolink:NamedThing gastrula stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpte7i6ely_mondo_relaxed.owl trilaminar disk stage|trilaminar blastoderm stage|trilaminar stage|trilaminar germ stage|trilaminar blastocyst stage|blastocystis trilaminaris stage owl:Class GO:0007369 biolink:NamedThing gastrulation A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017014 biolink:NamedThing interstitial lung disease specific to childhood A interstitial lung disease that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood interstitial lung disease|chILD syndrome|ILD specific to childhood|pediatric interstitial lung disease|interstitial lung disease of childhood|chILD UMLS:CN202324|Orphanet:264656|SCTID:328661000119108 The terms chILD or chILD syndrome (not preferred) have been coined to memorize easily and to identify a phenotype that requires prompt and expert evaluation. https://github.com/monarch-initiative/mondo/issues/4389 owl:Class ENVO:01001201 biolink:NamedThing marine environmental zone An environmental zone which is bounded by material parts of a marine environment. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000320 biolink:NamedThing marine environment A marine environment and enviroment which is determined by a marine water body. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015834 biolink:NamedThing duodenum lamina propria tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008342 biolink:NamedThing intestinal villus of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014024 biolink:NamedThing hereditary spastic paraplegia 43 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia type 43|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|SPG43|autosomal recessive spastic paraplegia 43|hereditary spastic paraplegia type 43|C19orf12 autosomal recessive complex spastic paraplegia|spastic paraplegia 43, autosomal recessive OMIM:615043|SCTID:764736001|DOID:0110795|UMLS:C2680446|Orphanet:320370|ICD10:G11.4 owl:Class HGNC:25443 biolink:NamedThing C19orf12 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26708 biolink:NamedThing sodium atom tmpte7i6ely_mondo_relaxed.owl Natrium|11Na|Na|sodium|natrium|sodio owl:Class CHEBI:33937 biolink:NamedThing macronutrient Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. tmpte7i6ely_mondo_relaxed.owl macronutrients owl:Class MONDO:0011370 biolink:NamedThing Stargardt disease 4 Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene. tmpte7i6ely_mondo_relaxed.owl STGD4|Stargardt disease 4|Stargardt disease type 4|PROM1 Stargardt disease|Stargardt disease caused by mutation in PROM1 MESH:C535521|UMLS:C1863534|Orphanet:827|OMIM:603786 owl:Class HGNC:9454 biolink:NamedThing PROM1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007641 biolink:NamedThing trigeminal nuclear complex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7010 biolink:NamedThing MEN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003423 biolink:NamedThing middle ear adenoma A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss. tmpte7i6ely_mondo_relaxed.owl adenoma of the middle ear|adenoma of middle ear|middle ear adenoma NCIT:C6834|DOID:5387|UMLS:C1334759|SCTID:734078009 owl:Class FOODON:00001143 biolink:NamedThing fungus food product A food product consisting of an edible fungi or mushroom or yeast. tmpte7i6ely_mondo_relaxed.owl http://www.asmscience.org/content/journal/microbiolspec/10.1128/microbiolspec.FUNK-0030-2016 Damion Dooley owl:Class FOODON:03411261 biolink:NamedThing fungus A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms. tmpte7i6ely_mondo_relaxed.owl fungi owl:Class MONDO:0007068 biolink:NamedThing adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. tmpte7i6ely_mondo_relaxed.owl ADSL deficiency|inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinate lyase deficiency|ADSLD|adenylosuccinase deficiency|adenylosuccinase lyase deficiency|inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|Adsl deficiency SCTID:15285008|DOID:0050762|Orphanet:46|OMIM:103050|UMLS:C0268126|ICD9:277.2|ICD10:E79.8|MESH:C538235|GARD:0000550 owl:Class HGNC:291 biolink:NamedThing ADSL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004803 biolink:NamedThing disseminated eosinophilic collagen disease tmpte7i6ely_mondo_relaxed.owl DOID:9499|UMLS:C0263662|SCTID:423486005|ICD9:710.8 owl:Class MONDO:0017815 biolink:NamedThing acquired porencephaly An instance of porencephaly that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired porencephaly UMLS:C0151860|SCTID:38837006|Orphanet:314697|ICD10:G93.0 owl:Class MONDO:0021141 biolink:NamedThing acquired tmpte7i6ely_mondo_relaxed.owl not genetically inherited Orphanet:409941 owl:Class MONDO:0009867 biolink:NamedThing lethal congenital glycogen storage disease of heart Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. tmpte7i6ely_mondo_relaxed.owl phosphorylase kinase deficiency of heart|fatal congenital nonlysosomal cardiac glycogenosis|glycogen storage disease of heart, lethal congenital|fatal congenital hypertrophic cardiomyopathy due to glycogenosis|glycogen storage disease of heart|PRKAG2 glycogen storage disease|fatal congenital hypertrophic cardiomyopathy due to GSD|glycogen storage disease caused by mutation in PRKAG2|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease DOID:0090101|ICD10:G73.6*|Orphanet:439854|GARD:0010728|UMLS:C1849813|OMIM:261740|MESH:C564888|ICD10:E74.0+ owl:Class UBERON:0003405 biolink:NamedThing lobar bronchus of left lung tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013538 biolink:NamedThing alpha-2-macroglobulin deficiency tmpte7i6ely_mondo_relaxed.owl ALPHA-2-macroglobulin deficiency|A2MD|alpha-2-macroglobulin deficiency 2022-04-01 UMLS:C3279661|MESH:C566304|OMIM:614036 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HGNC:7 biolink:NamedThing A2M tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006617 biolink:NamedThing left external ear tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007447 biolink:NamedThing autosomal dominant vibratory urticaria An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. tmpte7i6ely_mondo_relaxed.owl dermodistortive urticaria|VBU|angioedema, vibratory|vibratory urticaria, autosomal dominant|DDU|vibratory angioedema ICD9:995.1|UMLS:C0473546|Orphanet:493342|OMIM:125630|MESH:C536347|OMIM:193050|UMLS:C1852146|SCTID:238694002 owl:Class UBERON:0003291 biolink:NamedThing meninx of hindbrain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008458 biolink:NamedThing spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. tmpte7i6ely_mondo_relaxed.owl ATXN2 autosomal dominant cerebellar ataxia type I|cerebellar Degeneration with slow eye movements|spinocerebellar ataxia, Cuban type|spinocerebellar ataxia with slow eye movements|olivopontocerebellar atrophy 2|Wadia-swami syndrome|OPCA2|SCA2|amyotrophic lateral sclerosis, susceptibility to, 13|spinocerebellar ataxia Cuban type|amyotrophic lateral sclerosis type 13|olivopontocerebellar atrophy Holguin type|ALS13|spinocerebellar Degeneration with slow eye movements|Wadia swami syndrome|spinocerebellar ataxia type 2|SCA 2|olivopontocerebellar atrophy, Holguin type|spinocerebellar ataxia 2|spinocerebellar atrophy 2|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2|amyotrophic lateral sclerosis 13 UMLS:C0752121|OMIM:183090|SCTID:715751004|NCIT:C148315|Orphanet:98756|DOID:0050955|ICD10:G11.2|GARD:0004072 owl:Class HGNC:10555 biolink:NamedThing ATXN2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003621 biolink:NamedThing Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. tmpte7i6ely_mondo_relaxed.owl Signs and symptoms begin before 15 years of age UMLS:C4025588 HP:0003592|HP:0003661|HP:0003659|HP:0003583|HP:0003670|HP:0003625|HP:0003582|HP:0003604|HP:0003619|HP:0003578|HP:0003589|HP:0003580|HP:0003620 human_phenotype owl:Class MONDO:0021484 biolink:NamedThing benign neoplasm of maxillary sinus A benign neoplasm that involves the maxillary sinus. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the maxillary sinus|benign tumor of the maxillary sinus|benign neoplasm of maxillofacial sinus|benign tumor of the maxillofacial sinus|benign tumor of the maxillary antrum|benign maxillary sinus tumor|maxillary sinus benign neoplasm|benign maxillofacial sinus neoplasm|benign maxillary antrum neoplasm|benign tumor of maxillary antrum|benign neoplasm of the maxillofacial sinus|benign maxillary antrum tumor|benign neoplasm of the maxillary antrum|benign maxillary sinus neoplasm|benign neoplasm of maxillary antrum|benign tumor of maxillary sinus|benign maxillofacial sinus tumor|benign tumor of maxillofacial sinus SCTID:92211008|UMLS:C0345666|NCIT:C4414|ICD9:212.0 owl:Class UBERON:0022277 biolink:NamedThing hepatic flexure of colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001156 biolink:NamedThing ascending colon tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9001943 biolink:NamedThing exposure to food acidity regulator An exposure to food acidity regulator. tmpte7i6ely_mondo_relaxed.owl exposure to food acidity regulator owl:Class NCBITaxon:10798 biolink:NamedThing Human parvovirus B19 tmpte7i6ely_mondo_relaxed.owl Erythrovirus B19|Human erythrovirus B19|B19 virus|Parvovirus B19 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011930 biolink:NamedThing epilepsy, familial adult myoclonic, 2 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, familial adult myoclonic, 2|cortical myoclonus and epilepsy, autosomal dominant|FAME2|epilepsy, familial adult myoclonic caused by mutation in ADRA2B|epilepsy, familial adult myoclonic, type 2|cortical myoclonic tremor with epilepsy, familial, 2|ADRA2B epilepsy, familial adult myoclonic|epilepsy, familial ADULT myoclonic, 2|benign adult familial myoclonic epilepsy 2 Orphanet:86814|OMIM:607876|DOID:0111692|MESH:C564313|UMLS:C1842852 owl:Class HGNC:282 biolink:NamedThing ADRA2B tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004348 biolink:NamedThing Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. tmpte7i6ely_mondo_relaxed.owl Abnormality of bone mineralisation and ossification UMLS:C4021657 peter 2008-03-11T08:10:00Z human_phenotype owl:Class MONDO:0014393 biolink:NamedThing lymphatic malformation 4 Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. tmpte7i6ely_mondo_relaxed.owl lymphedema, hereditary, 1D|hereditary lymphedema caused by mutation in VEGFC|lymphedema, hereditary, type 1D|VEGFC hereditary lymphedema|LMPH1D DOID:0070209|UMLS:C4014628|OMIM:615907|Orphanet:79452 owl:Class HGNC:12682 biolink:NamedThing VEGFC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001285 biolink:NamedThing endometriosis of pelvic peritoneum tmpte7i6ely_mondo_relaxed.owl ICD10:N80.3|SCTID:198251001|DOID:11429|ICD9:617.3|UMLS:C0156345 owl:Class UBERON:0001290 biolink:NamedThing proximal straight tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014695 biolink:NamedThing deep auricular artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035551 biolink:NamedThing deep vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2974 biolink:NamedThing DNM2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0040008 biolink:NamedThing regulation of growth Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013597 biolink:NamedThing platelet-type bleeding disorder 14 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. tmpte7i6ely_mondo_relaxed.owl thromboxane synthetase deficiency|BDPLT14|thromboxane synthase deficiency|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1|TBXAS1 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 14 OMIM:614158|UMLS:C0398635|DOID:0111047|MESH:C562866|SCTID:234477002 owl:Class HGNC:11609 biolink:NamedThing TBXAS1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005229 biolink:NamedThing lower leg epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:3000000 biolink:NamedThing ciliated epithelial cell of esophagus A ciliated epithelial cell of the esophagus. tmpte7i6ely_mondo_relaxed.owl CellBLAST 2019-02-09T16:40:30Z cell owl:Class UBERON:0001976 biolink:NamedThing epithelium of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031333 biolink:NamedThing negative regulation of protein-containing complex assembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. tmpte7i6ely_mondo_relaxed.owl inhibition of protein complex assembly|down-regulation of protein complex assembly|down regulation of protein complex assembly|downregulation of protein complex assembly|negative regulation of protein complex assembly owl:Class GO:0065003 biolink:NamedThing protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. tmpte7i6ely_mondo_relaxed.owl macromolecular complex assembly|protein complex formation|protein complex assembly|macromolecule complex assembly|chaperone activity owl:Class MONDO:0012926 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A2 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta hypomaturation type IIA2|AI2A2|amelogenesis imperfecta, pigmented hypomaturation type, 2|amelogenesis imperfecta pigmented hypomaturation type 2|MMP20 amelogenesis imperfecta|amelogenesis imperfecta type IIA2|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta caused by mutation in MMP20 Orphanet:100033|UMLS:C2675858|OMIM:612529|ICD10:K00.5|DOID:0110060|MESH:C567279 owl:Class HGNC:7167 biolink:NamedThing MMP20 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013453 biolink:NamedThing Leber congenital amaurosis 8 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis caused by mutation in CRB1|Leber congenital amaurosis 8|LCA8|CRB1 Leber congenital amaurosis|Leber congenital amaurosis type 8 UMLS:C3151202|ICD10:H35.5|DOID:0110079|GARD:0010881|OMIM:613835 https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8 owl:Class HGNC:2343 biolink:NamedThing CRB1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018116 biolink:NamedThing right renal pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001222 biolink:NamedThing right ureter tmpte7i6ely_mondo_relaxed.owl owl:Class N2f7e3e1c7f1f4a598c8db8a7020ed70d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018515 biolink:NamedThing squamous cell carcinoma of rectum A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpte7i6ely_mondo_relaxed.owl rectal squamous carcinoma|squamous carcinoma of the rectum|squamous cell carcinoma of the rectum|rectum squamous cell carcinoma|rectal squamous cell cancer|squamous carcinoma of rectum|rectal squamous cell carcinoma|squamous cell carcinoma of rectum DOID:5528|ICD10:C20|SCTID:766979005|NCIT:C5554|UMLS:C1335690|Orphanet:424002 owl:Class UBERON:0016551 biolink:NamedThing subdivision of spinal cord ventral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022855 biolink:NamedThing congenital vagal hyperreflexivity tmpte7i6ely_mondo_relaxed.owl GARD:0001508 https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity owl:Class UBERON:0035652 biolink:NamedThing fibular nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009132 biolink:NamedThing peroneus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008612 biolink:NamedThing tuberous sclerosis 1 Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). tmpte7i6ely_mondo_relaxed.owl tuberose sclerosis|tuberous sclerosis caused by mutation in TSC1|tuberous sclerosis, type 1|TSC1 tuberous sclerosis|tuberous sclerosis Complex|tuberous sclerosis 1|TSC1|tuberous sclerosis type 1 GARD:0005380|NCIT:C75122|OMIM:191100|Orphanet:805|DOID:0080324 owl:Class HGNC:12362 biolink:NamedThing TSC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005215 biolink:NamedThing kidney interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004362 biolink:NamedThing pharyngeal arch 1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048259 biolink:NamedThing regulation of receptor-mediated endocytosis Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpte7i6ely_mondo_relaxed.owl regulation of receptor mediated endocytosis owl:Class GO:0006898 biolink:NamedThing receptor-mediated endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. tmpte7i6ely_mondo_relaxed.owl receptor mediated endocytosis owl:Class MONDO:0009109 biolink:NamedThing lysinuric protein intolerance Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. tmpte7i6ely_mondo_relaxed.owl dibasic aminoaciduria 2|hyperdibasic aminoaciduria type 2|lysinuric protein intolerance|hyperdibasic aminoaciduria|dibasic amino aciduria 2|lysinuric PROTEIN intolerance|Dibasicamino aciduria II|LPI|dibasic amino aciduria II MESH:C562687|NCIT:C121563|OMIM:222700|ICD9:270.8|ICD10:E72.0|UMLS:C0268647|GARD:0003335|Orphanet:470|DOID:0060439|SCTID:303852004|MedDRA:10058300|GARD:0001853 https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2|https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance owl:Class HGNC:11065 biolink:NamedThing SLC7A7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004829 biolink:NamedThing Krukenberg carcinoma Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. tmpte7i6ely_mondo_relaxed.owl Krukenberg’s tumor|Krukenberg neoplasm|Krukenberg tumor MESH:D007725|SCTID:359987004|EFO:1000316|GARD:0008627|NCIT:C3153|UMLS:C0022790|DOID:9597 MONDO:0006261 owl:Class UBERON:0006214 biolink:NamedThing carpus pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005419 biolink:NamedThing pectoral appendage bud tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000073 biolink:NamedThing spinal cord radial glial cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011714 biolink:NamedThing partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome tmpte7i6ely_mondo_relaxed.owl lipodystrophy, partial, with congenital cataracts and neurodegeneration|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome|LCCNS OMIM:606721|UMLS:C3807567 owl:Class HGNC:1527 biolink:NamedThing CAV1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:28616 biolink:NamedThing carbamic acid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. tmpte7i6ely_mondo_relaxed.owl Carbamate|carbamic acid|Carbamidsaeure|Carbamic acid|Aminoameisensaeure|Aminoformic acid|CARBAMIC ACID owl:Class CHEBI:76971 biolink:NamedThing Escherichia coli metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. tmpte7i6ely_mondo_relaxed.owl E.coli metabolite|Escherichia coli metabolites|E.coli metabolites owl:Class HGNC:4586 biolink:NamedThing GRIN2B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034953 biolink:NamedThing embryonic lymph sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006261 biolink:NamedThing male genital tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000079 biolink:NamedThing male reproductive system tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099550 biolink:NamedThing trans-synaptic signaling, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000141 biolink:NamedThing mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. tmpte7i6ely_mondo_relaxed.owl Warburton-Anyane-Yeboa syndrome|MVA1|Mosaic variegated aneuploidy syndrome 1 GARD:0003007|UMLS:C1850343|MESH:C536987|OMIM:614114|NCIT:C128192|ICD10:Q99.8|ICD9:758.89|SCTID:700056005|Orphanet:1052|OMIM:257300|OMIMPS:257300 owl:Class UBERON:0001793 biolink:NamedThing nerve fiber layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017862 biolink:NamedThing paraquat poisoning Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:T60.3|Orphanet:31827|UMLS:CN227212 owl:Class NCBITaxon:7711 biolink:NamedThing Chordata tmpte7i6ely_mondo_relaxed.owl chordates GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003704 biolink:NamedThing intrahepatic bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001867 biolink:NamedThing complement activation, lectin pathway Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes. tmpte7i6ely_mondo_relaxed.owl complement cascade, lectin pathway owl:Class MONDO:0010343 biolink:NamedThing Asperger syndrome, X-linked, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl Asperger syndrome, X-linked, susceptibility to, type 2|susceptibility to X-linked asperger syndrome 2|Asperger syndrome, X-linked, susceptibility to, 2|ASPERGER syndrome, X-linked, susceptibility to, 2|ASPGX2 OMIM:300497 owl:Class HGNC:14287 biolink:NamedThing NLGN4X tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010171 biolink:NamedThing strand of hair of face tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008801 biolink:NamedThing parotid gland primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004582 biolink:NamedThing venous system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007324 biolink:NamedThing pancreatic lobule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000321 biolink:NamedThing typhoidal tularemia A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss. tmpte7i6ely_mondo_relaxed.owl UMLS:C0473876|SCTID:398554008|DOID:0050383 owl:Class MONDO:0020738 biolink:NamedThing multiple benign circumferential skin creases on limbs 1 tmpte7i6ely_mondo_relaxed.owl skin creases, congenital symmetric circumferential, 1|CSCSC1 OMIM:156610|Orphanet:2505|UMLS:C0473586 owl:Class HGNC:20778 biolink:NamedThing TUBB tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:730 biolink:NamedThing [Haemophilus] ducreyi tmpte7i6ely_mondo_relaxed.owl Bacillus ulceris cancrosi|Coccobacillus ducreyi|Haemophilus ducreyi GC_ID:11 ncbi_taxonomy owl:Class CHEBI:73182 biolink:NamedThing plant activator Any compound that protects plants by activating their defence mechanisms. tmpte7i6ely_mondo_relaxed.owl plant activators owl:Class GO:0051216 biolink:NamedThing cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpte7i6ely_mondo_relaxed.owl cartilage biogenesis|chondrogenesis|cartilage formation|cartilage biosynthesis|cartilage element development|cartilage organ development owl:Class UBERON:0000926 biolink:NamedThing mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014894 biolink:NamedThing Meier-Gorlin syndrome 7 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. tmpte7i6ely_mondo_relaxed.owl CDC45 Meier-Gorlin syndrome|Meier-Gorlin syndrome 7; MGORS7|MGORS7|Meier-Gorlin syndrome caused by mutation in CDC45|Meier-Gorlin syndrome 7|Meier-Gorlin syndrome type 7 OMIM:617063|DOID:0080518|UMLS:C4310738 owl:Class MONDO:0014735 biolink:NamedThing Charcot-Marie-Tooth disease type 2Y Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, type 2y|Charcot-Marie-Tooth neuropathy type 2Y|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|Charcot-Marie-Tooth disease, axonal, type 2Y|CMT2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP|CMT2Y|VCP Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, type 2Y UMLS:C4225244|DOID:0110168|Orphanet:435387|ICD10:G60.0|OMIM:616687 owl:Class HGNC:12666 biolink:NamedThing VCP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014307 biolink:NamedThing Dowling-Degos disease 4 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene. tmpte7i6ely_mondo_relaxed.owl Dowling-Degos disease caused by mutation in POGLUT1|Dowling-Degos disease 4|DDD4|POGLUT1 Dowling-Degos disease|Dowling-Degos disease type 4 OMIM:615696|UMLS:C3810313|Orphanet:79145 owl:Class HGNC:22954 biolink:NamedThing POGLUT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004645 biolink:NamedThing urinary bladder urothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010191 biolink:NamedThing von Willebrand disease 3 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). tmpte7i6ely_mondo_relaxed.owl von Willebrand disease type 3|VWD3|von Willebrand disease type III|VWD type 3|VWD, type 3|Von Willebrand disease, type 3|von Willebrand's disease 3|von Willebrand's disease type 3|VON WILLEBRAND disease, type 3|von Willebrand disease 3 OMIM:277480|DOID:0111054|MESH:D056729|NCIT:C85213|Orphanet:903|UMLS:C1264041|Orphanet:166096|ICD10:D68.0|SCTID:128108002 owl:Class HGNC:12726 biolink:NamedThing VWF tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006486 biolink:NamedThing protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpte7i6ely_mondo_relaxed.owl protein amino acid glycosylation|protein-carbohydrate complex assembly owl:Class UBERON:0004116 biolink:NamedThing nerve of tympanic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001779 biolink:NamedThing iris stroma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001769 biolink:NamedThing iris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004378 biolink:NamedThing proximal metaphysis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061308 biolink:NamedThing cardiac neural crest cell development involved in heart development The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061307 biolink:NamedThing cardiac neural crest cell differentiation involved in heart development The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100431 biolink:NamedThing migraine without aura A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. tmpte7i6ely_mondo_relaxed.owl common migraine EFO:0005296|DOID:12783|SCTID:56097005|MESH:D020326|UMLS:C0338480|NCIT:C117004 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3984 owl:Class UBERON:0001765 biolink:NamedThing mammary duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015542 biolink:NamedThing secondary hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. tmpte7i6ely_mondo_relaxed.owl acquired hemophagocytic syndrome|reactive hemophagocytic syndrome|acquired hemophagocytic lymphohistiocytosis UMLS:CN199700|UMLS:C0019068|Orphanet:158041|NCIT:C121184|UMLS:C4054044 owl:Class CHEBI:137419 biolink:NamedThing secondary ammonium ion An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl a secondary amine|secondary amine(1+) owl:Class CHEBI:32863 biolink:NamedThing secondary amine A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups. tmpte7i6ely_mondo_relaxed.owl R2NH|secondary amines|Secondary amine|sekundaeres Amin owl:Class GO:1903036 biolink:NamedThing positive regulation of response to wounding Any process that activates or increases the frequency, rate or extent of response to wounding. tmpte7i6ely_mondo_relaxed.owl upregulation of physiological response to wounding|activation of response to wounding|up-regulation of physiological response to wounding|up regulation of response to wounding|positive regulation of physiological response to wounding|upregulation of response to wounding|activation of physiological response to wounding|up-regulation of response to wounding|up regulation of physiological response to wounding owl:Class GO:0009611 biolink:NamedThing response to wounding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. tmpte7i6ely_mondo_relaxed.owl physiological response to wounding owl:Class UBERON:0010183 biolink:NamedThing liver trabecula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004227 biolink:NamedThing kidney pelvis smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:27958 biolink:NamedThing cocaine A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca. tmpte7i6ely_mondo_relaxed.owl methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester|Cocaina|COCAINE|(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate|methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|Benzoylmethylecgonine|methyl benzoylecgonine|2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)|l-Cocain|beta-Cocain|Kokain|Neurocaine|Cocain|(-)-cocaine|Cocaine|l-cocaine|cocainum owl:Class CHEBI:38633 biolink:NamedThing sodium channel blocker An agent that inhibits sodium influx through cell membranes. tmpte7i6ely_mondo_relaxed.owl Na channel blocker|sodium channel blockers owl:Class HGNC:3178 biolink:NamedThing EDN3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006207 biolink:NamedThing aortico-pulmonary spiral septum tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001090 biolink:NamedThing formation of a solid aerosol from gaseous material in an atmosphere A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere. tmpte7i6ely_mondo_relaxed.owl formation of a solid aerosol in the atmosphere|atmospheric formation of a solid aerosol|formation of a solid aerosol in an atmosphere|formation of solid particles from gaseous material in an atmosphere owl:Class HGNC:4285 biolink:NamedThing GJB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005195 biolink:NamedThing septic peritonitis Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. tmpte7i6ely_mondo_relaxed.owl PMID:22911262|Wikipedia:Septic_peritonitis|EFO:0002623 owl:Class HP:0100806 biolink:NamedThing Sepsis Systemic inflammatory response to infection. tmpte7i6ely_mondo_relaxed.owl Infection in blood stream MSH:D018805|UMLS:C0036690 doelkens 2011-06-09T01:05:51Z human_phenotype owl:Class CL:0000432 biolink:NamedThing reticular cell Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum. tmpte7i6ely_mondo_relaxed.owl reticulum cell FMA:62877 cell owl:Class HGNC:8618 biolink:NamedThing PAX4 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001137 biolink:NamedThing ice planet A planet which has a surface layer that nearly completely or completely covered by ice, and which has a substantial portion of its mass composed of ice. tmpte7i6ely_mondo_relaxed.owl cryoplanet owl:Class N4c8465de50784cf2b722a8982184a2c7 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0002068 biolink:NamedThing urachus tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000017 biolink:NamedThing sand A naturally occurring granular material composed of finely divided rock and mineral particles. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010730 biolink:NamedThing combined immunodeficiency, X-linked tmpte7i6ely_mondo_relaxed.owl combined immunodeficiency, X-linked|immunodeficiency 6|Xcid|CIDX OMIM:312863 owl:Class HGNC:6010 biolink:NamedThing IL2RG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008002 biolink:NamedThing mirror movements 1 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene. tmpte7i6ely_mondo_relaxed.owl mirror movements 1 and/Or agenesis of the corpus callosum|mirror movements type 1|familial congenital mirror movements caused by mutation in DCC|mirror movements, congenital|DCC familial congenital mirror movements|MRMV1|mirror movements 1|bimanual synergia Orphanet:238722|OMIM:157600 owl:Class HGNC:2701 biolink:NamedThing DCC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006526 biolink:NamedThing allergic urticaria A urticaria with a basis in a pathological type I hypersensitivity reaction. tmpte7i6ely_mondo_relaxed.owl allergic form of urticaria|allergic urticaria (disease)|allergic form of urticaria (disease) Wikipedia:Urticaria#Allergic_urticaria|DOID:10612|ICD9:708.0|EFO:1000669|UMLS:C0149526|SCTID:40178009|ICD10:L50.0 owl:Class CL:1000434 biolink:NamedThing epithelial cell of external acoustic meatus An epithelial cell that is part of the external acoustic meatus. tmpte7i6ely_mondo_relaxed.owl FMA:70555 cell owl:Class GO:0002456 biolink:NamedThing T cell mediated immunity Any process involved in the carrying out of an immune response by a T cell. tmpte7i6ely_mondo_relaxed.owl T-cell mediated immunity|T-lymphocyte mediated immunity|T lymphocyte mediated immunity|cell-mediated immunity|cellular immune response owl:Class UBERON:0005720 biolink:NamedThing hindbrain venous system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17997 biolink:NamedThing FKRP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005579 biolink:NamedThing epilepsy, idiopathic generalized A chronic condition characterised by recurrent generalised seizures. tmpte7i6ely_mondo_relaxed.owl idiopathic generalized epilepsy|generalised epilepsy|EIG|epilepsy, idiopathic generalized|generalized epilepsy EFO:0005917|OMIM:607628|OMIM:608762|OMIM:607682|OMIMPS:600669|OMIM:614847|DOID:1827|OMIM:611136|SCTID:19598007|OMIM:611934|OMIM:613060|OMIM:604827|OMIM:606972|OMIM:600669|OMIM:609750|MESH:C562694|OMIM:612899|NCIT:C3021|MESH:D004829|OMIM:616685 owl:Class MONDO:0009339 biolink:NamedThing congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. tmpte7i6ely_mondo_relaxed.owl congenital bile acid synthesis defect type 2|bile acid synthesis defect, congenital, 2|AKR1D1 congenital bile acid synthesis defect|congenital bile acid synthesis defect, type 2|BASD2|cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|bile acid synthesis defect, congenital, type 2|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|CBAS2|congenital bile acid synthesis defect caused by mutation in AKR1D1 Orphanet:79303|OMIM:235555|ICD10:K76.8|MESH:C535443|UMLS:C1856127|DOID:0111069|GARD:0010045 owl:Class OBO:CHR_9606-chr9p biolink:NamedThing 9p (Human) tmpte7i6ely_mondo_relaxed.owl 43000000 0 hg38 owl:Class UBERON:0003069 biolink:NamedThing otic placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000112 biolink:NamedThing sexually immature stage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011488 biolink:NamedThing microcephaly 3, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene. tmpte7i6ely_mondo_relaxed.owl microcephaly 3, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CDK5RAP2|CDK5RAP2 autosomal recessive primary microcephaly|MCPH3 UMLS:C1858108|DOID:0070286|MESH:C565746|OMIM:604804|Orphanet:2512 owl:Class HGNC:18672 biolink:NamedThing CDK5RAP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012967 biolink:NamedThing hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. tmpte7i6ely_mondo_relaxed.owl ADENYLATE KINASE deficiency, hemolytic anemia due to Orphanet:86817|ICD10:D55.3|OMIM:612631|SCTID:766982000|MESH:C567228|UMLS:C2675459 owl:Class HGNC:361 biolink:NamedThing AK1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010360 biolink:NamedThing pharyngeal arch mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017801 biolink:NamedThing atypical Meigs syndrome tmpte7i6ely_mondo_relaxed.owl incomplete Meigs syndrome|atypical Demons-Meigs syndrome UMLS:CN203760|Orphanet:314466|ICD10:D27 owl:Class UBERON:0006834 biolink:NamedThing uterus or analog tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:33208 biolink:NamedThing Metazoa tmpte7i6ely_mondo_relaxed.owl metazoans|animals|Animalia|multicellular animals GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000432 biolink:NamedThing lymphoplasmacytic lymphoma A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. tmpte7i6ely_mondo_relaxed.owl lymphoma, plasmacytic|lymphoplasmacytic lymphoma|Immunocytoma, lymphoplasmacytic type|lymphoma, lymphoplasmacytic, malignant|lymphoplasmacytoid lymphoma|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia) Orphanet:33226|OMIM:153600|DOID:0050747|ONCOTREE:LPL|NCIT:C80307|UMLS:C0334633|ICD10:C88.0|ICDO:9761/3|NCIT:C3212|MESH:D008258|ICDO:9671/3|ICD9:273.3|OMIM:610430|UMLS:C0024419 owl:Class HP:0005508 biolink:NamedThing Monoclonal immunoglobulin M proteinemia Presence of a monoclonal immunoglobulin M protein in the serum. tmpte7i6ely_mondo_relaxed.owl Waldenstrom macroglobulinemia SNOMEDCT_US:190817009|SNOMEDCT_US:190818004|UMLS:C0024419|SNOMEDCT_US:35562000|MSH:D008258 This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. human_phenotype owl:Class UBERON:0001821 biolink:NamedThing sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044625 biolink:NamedThing autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation tmpte7i6ely_mondo_relaxed.owl CMT2 due to DGAT2 mutation Orphanet:487814 owl:Class HGNC:16940 biolink:NamedThing DGAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019600 biolink:NamedThing xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). tmpte7i6ely_mondo_relaxed.owl XP|pigmented epitheliomatosis|xeroderma of Kaposi|angioma pigmentosum atrophicum|Kaposi disease|xeroderma pigmentosa|melanosis lenticularis progressiva|Kaposi dermatosis|xeroderma pigmentosum syndrome|atrophoderma pigmentosum MedDRA:10048220|OMIM:278780|DOID:0050427|OMIM:278720|ICD10:Q82.1|OMIM:278700|UMLS:C0043346|MESH:D014983|SCTID:44600005|Orphanet:910|GARD:0007910|OMIM:194400|NCIT:C3452|OMIM:610651|OMIM:278730|OMIM:278760|OMIM:278740 https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum owl:Class MONDO:0012439 biolink:NamedThing Alagille syndrome due to a NOTCH2 point mutation tmpte7i6ely_mondo_relaxed.owl ALGS2|Arteriohepatic dysplasia due to a NOTCH2 point mutation|Alagille syndrome 2|syndromic bile duct paucity due to a NOTCH2 point mutation|Alagille-Watson syndrome due to a NOTCH2 point mutation|Alagille syndrome due to a NOTCH2 point mutation|Alagille syndrome type 2 ICD10:Q44.7|Orphanet:52|OMIM:610205|Orphanet:261629|UMLS:C1857761 owl:Class HGNC:7882 biolink:NamedThing NOTCH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003177 biolink:NamedThing prostate adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the prostate gland. tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of prostate|prostate gland adenoid cystic carcinoma|adenoid cystic carcinoma of the prostate|prostate adenoid cystic carcinoma DOID:4868|NCIT:C5539|UMLS:C1335502 owl:Class UBERON:0012465 biolink:NamedThing lumen of terminal part of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006866 biolink:NamedThing terminal part of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001808 biolink:NamedThing parasympathetic ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003488 biolink:NamedThing abdominal mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014688 biolink:NamedThing short-rib thoracic dysplasia 14 with polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. tmpte7i6ely_mondo_relaxed.owl SRTD14|short-rib thoracic dysplasia 14 with polydactyly ICD10:Q04.3|OMIM:616546|UMLS:C4225286|DOID:0110096 owl:Class HGNC:19960 biolink:NamedThing KIAA0586 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007858 biolink:NamedThing palmoplantar keratoderma, punctate type 1A Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. tmpte7i6ely_mondo_relaxed.owl keratosis palmoplantaris papulosa|AAGAB punctate palmoplantar keratoderma|punctate palmoplantar keratoderma type 1A|palmoplantar keratoderma, punctate type IA|palmoplantar keratoderma, punctate type 1|punctate palmoplantar keratoderma caused by mutation in AAGAB|PPKP1A|Kppp1|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|palmoplantar keratoderma, punctate type 1A DOID:0080214|OMIM:148600|Orphanet:79501 owl:Class MONDO:0014971 biolink:NamedThing amelogenesis imperfecta, hypomaturation type, IIa6 tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6|AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6 OMIM:617217|UMLS:C4310665 owl:Class HGNC:4519 biolink:NamedThing GPR68 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000323 biolink:NamedThing late embryo tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010145 biolink:NamedThing tibia, absence of, with congenital deafness tmpte7i6ely_mondo_relaxed.owl tibia, absence of, with congenital deafness OMIM:275230|MESH:C564764|UMLS:C1848758 owl:Class UBERON:0001608 biolink:NamedThing dilatator pupillae tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001066 biolink:NamedThing intervertebral disk tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045836 biolink:NamedThing positive regulation of meiotic nuclear division Any process that activates or increases the frequency, rate or extent of meiosis. tmpte7i6ely_mondo_relaxed.owl up regulation of meiosis|stimulation of meiosis|activation of meiosis|positive regulation of meiosis|up-regulation of meiosis|upregulation of meiosis owl:Class GO:0140013 biolink:NamedThing meiotic nuclear division One of the two nuclear divisions that occur as part of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl meiosis owl:Class MONDO:0005688 biolink:NamedThing campylobacteriosis Infections with bacteria of the genus campylobacter. tmpte7i6ely_mondo_relaxed.owl UMLS:C0006818|EFO:0007190|SCTID:86500004|MESH:D002169|DOID:13622 owl:Class MONDO:0012999 biolink:NamedThing guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. tmpte7i6ely_mondo_relaxed.owl cerebral creatine deficiency syndrome type 2|guanidinoacetate methyltransferase deficiency|guanidinoacetate N-methyltransferase activity disease|creatine deficiency syndrome due to GAMT deficiency|CCDS2|GAMT deficiency|disorder of guanidinoacetate N-methyltransferase activity|cerebral creatine deficiency syndrome 2 SCTID:124239003|OMIM:612736|UMLS:C0574080|ICD9:277.6|GARD:0002578|MESH:C537622|DOID:0050799|ICD10:E72.8|Orphanet:382 https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency owl:Class HGNC:4136 biolink:NamedThing GAMT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019409 biolink:NamedThing idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. tmpte7i6ely_mondo_relaxed.owl idiopathic osteoporosis|juvenile osteoporosis|Ijo|idiopathic juvenile osteoporosis|Pediatric osteoporosis|osteoporosis, juvenile UMLS:CN536248|MESH:C537700|ICD9:733.02|NCIT:C119996|OMIM:615221|SCTID:3345002|DOID:12559|ICD10:M81.5|Orphanet:85193|GARD:0006760|OMIM:259750 owl:Class UBERON:0006558 biolink:NamedThing lymphatic part of lymphoid system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014025 biolink:NamedThing lower motor neuron syndrome with late-adult onset tmpte7i6ely_mondo_relaxed.owl SMAJ|spinal muscular atrophy, Jokela type OMIM:615048|Orphanet:276435|UMLS:C3554398|ICD10:G12.1 owl:Class UBERON:0002026 biolink:NamedThing stratum spinosum of epidermis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000993 biolink:NamedThing oviduct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012314 biolink:NamedThing short QT syndrome type 3 Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene. tmpte7i6ely_mondo_relaxed.owl SQT3|short QT syndrome type 3|KCNJ2 short QT syndrome|short QT syndrome 3|short QT syndrome caused by mutation in KCNJ2 OMIM:609622|MESH:C566504|UMLS:C1865018 owl:Class HGNC:6263 biolink:NamedThing KCNJ2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021569 biolink:NamedThing Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, limb-girdle type 1B|Emery-Dreifuss muscular dystrophy, autosomal dominant|muscular dystrophy, proximal, type 1B|scapuloilioperoneal atrophy with cardiopathy|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|proximal muscular dystrophy type 1B|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|Hauptmann-Thannhauser muscular dystrophy|limb-girdle muscular dystrophy due to lamin A/C deficiency|EDMD2|limb-girdle muscular dystrophy type 1B|benign scapuloperoneal muscular dystrophy with cardiomyopathy|LGMD1B|EMD2|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|muscular dystrophy, limb-girdle, type 1B|autosomal dominant limb-girdle muscular dystrophy type 1B|LMNA autosomal dominant limb-girdle muscular dystrophy GARD:0010230|DOID:0110301|Orphanet:98853|DOID:0070247|OMIM:181350|UMLS:C0410190|OMIM:159001|ICD10:G71.0|UMLS:C1834653|UMLS:C2750035|Orphanet:264|ICD9:425.4|Orphanet:261|SCTID:240072005|NCIT:C126745|SCTID:718178006|MESH:C535898 https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b owl:Class MONDO:0010653 biolink:NamedThing Renpenning syndrome Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature. tmpte7i6ely_mondo_relaxed.owl Renpenning syndrome|X-linked intellectual disability Renpenning type|Renpenning syndrome type 1|X-linked intellectual disability due to PQBP1 mutations|X-linked intellectual disability syndromic 3|mental retardation, X-linked, with spastic diplegia|mental retardation, X-linked 55|RENS1|intellectual disability, X-linked 55|MRXS3|syndromic X-linked mental retardation 8|X-linked mental retardation with spastic diplegia|X-linked mental retardation syndromic 3|Golabi-Ito-Hall syndrome|intellectual disability, X-linked, Renpenning type|intellectual disability, X-linked Renpenning type|X-linked mental retardation Renpenning type|syndromic X-linked intellectual disability 8|mental retardation, X-linked, syndromic 8|intellectual disability, X-linked, syndromic 3|intellectual disability, X-linked, syndromic 8|Sutherland-Haan syndrome|Sutherland-Haan X-linked intellectual disability syndrome|X-linked intellectual disability with spastic diplegia|Sutherland-Haan X-linked mental retardation syndrome|intellectual disability, X-linked, with spastic diplegia|mental retardation, X-linked, Renpenning type|X-linked intellectual disability, Renpenning type|MRXS8|mental retardation, X-linked, syndromic 3|mental retardation, X-linked Renpenning type|Renpenning syndrome 1 GARD:0009509|SCTID:699669001|ICD9:759.89|ICD10:Q87.5|MESH:C537761|DOID:0060179|OMIM:309500|Orphanet:3242|UMLS:C0796135 owl:Class CL:0000562 biolink:NamedThing nucleate erythrocyte An erythrocyte having a nucleus. tmpte7i6ely_mondo_relaxed.owl RBC|red blood cell cell owl:Class CL:0002421 biolink:NamedThing nucleated reticulocyte A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-10-15T09:24:05Z cell owl:Class MONDO:0002429 biolink:NamedThing idiopathic interstitial pneumonia A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis). tmpte7i6ely_mondo_relaxed.owl idiopathic fibrosing alveolitis|IIp|idiopathic interstitial pneumonitis|noninfectious pneumonia|IPF|diffuse idiopathic pulmonary fibrosis ICD10:J84.114|NCIT:C35714|Orphanet:98300|SCTID:236302005|UMLS:C2350236|ICD10:J84.11|ICD10:J84.112|MESH:D054988|DOID:2797|SCTID:196125002|SCTID:700249006 owl:Class HP:0002090 biolink:NamedThing Pneumonia Inflammation of any part of the lung parenchyma. tmpte7i6ely_mondo_relaxed.owl Pneumonia SNOMEDCT_US:233604007|MSH:D011014|UMLS:C0032285 human_phenotype owl:Class UBERON:0005728 biolink:NamedThing extraembryonic mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004948 biolink:NamedThing B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades. tmpte7i6ely_mondo_relaxed.owl chronic lymphocytic leukemia|CLL|chronic lymphogenous leukemia|chronic B-cell lymphocytic leukemia|B-cell chronic lymphocytic leukemia|B-cell chronic lymphoid leukemia|leukemia, chronic LYMPHOCYTIC|leukemia, chronic lymphatic|B cell lymphocytic leukemia|leukemia, lymphocytic, chronic|chronic lymphocytic leukemia (CLL)|small lymphocytic lymphoma|lymphoplasmacytic leukemia|chronic lymphatic leukemia|B-CLL|B cell chronic lymphocytic leukemia|B-cell chronic lymphogenous leukemia|hematopoeitic - chronic lymphocytic leukemia (CLL)|B cell CLL|B-cell CLL|B-cell lymphocytic leukemia|BCLL Orphanet:67038|MedDRA:10008958|EFO:0000095|GARD:0006104|NCIT:C3163|OMIM:151400|OMIM:612558|MESH:D015451|ICD9:204.1|UMLS:C0855095|OMIM:609630|DOID:1040|ICD10:C91.10|OMIM:612557|ICD10:C91.1|UMLS:C0023434|OMIM:109543|OMIM:612559 owl:Class OBO:CHR_9606-chr3p25.3 biolink:NamedThing 3p25.3 (Human) tmpte7i6ely_mondo_relaxed.owl 11600000 8100000 hg38 owl:Class OBO:CHR_9606-chr3p25 biolink:NamedThing 3p25 (Human) tmpte7i6ely_mondo_relaxed.owl 16300000 8100000 hg38 owl:Class UBERON:0005396 biolink:NamedThing carotid artery segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014703 biolink:NamedThing Adams-Oliver syndrome 6 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene. tmpte7i6ely_mondo_relaxed.owl Adams-Oliver syndrome type 6|Adams-Oliver syndrome caused by mutation in DLL4|Adams-Oliver syndrome 6|DLL4 Adams-Oliver syndrome|AOS6 OMIM:616589|UMLS:C4225271 owl:Class HGNC:2910 biolink:NamedThing DLL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000675 biolink:NamedThing pain agnosia Loss of the ability to perceive and process pain. tmpte7i6ely_mondo_relaxed.owl analgesia NCIT:C125664|DOID:0060145|EFO:1001484 owl:Class UBERON:0013280 biolink:NamedThing diaphysis of tibia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010294 biolink:NamedThing X-linked severe congenital neutropenia This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. tmpte7i6ely_mondo_relaxed.owl X-linked severe congenital neutropenia|neutropenia, severe congenital, X-linked|SCNX|severe congenital neutropenia, X-linked|severe congenital neutropenia X-linked|Xln ICD10:D70|Orphanet:86788|UMLS:C1845987|GARD:0003981|MESH:C564539|OMIM:300299|SCTID:718882006 https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked owl:Class UBERON:0004139 biolink:NamedThing cardiogenic plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003084 biolink:NamedThing heart primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017213 biolink:NamedThing postorgasmic illness syndrome A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS. tmpte7i6ely_mondo_relaxed.owl post orgasmic sick syndrome|POIS Orphanet:279947|GARD:0010809|UMLS:CN202682 https://github.com/monarch-initiative/mondo/issues/3570|https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome owl:Class MONDO:0012505 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 2 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. tmpte7i6ely_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary, type 2|primary pigmented nodular adrenocortical disease caused by mutation in PDE11A|PPNAD2|Cushing syndrome, adrenal, due to PPNAD2|pigmented nodular adrenocortical disease, primary, 2|PDE11A primary pigmented nodular adrenocortical disease|pigmented micronodular adrenocortical disease, primary, 2 OMIM:610475|Orphanet:189439|MESH:C566472|UMLS:C1864851 owl:Class HGNC:8773 biolink:NamedThing PDE11A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009870 biolink:NamedThing zone of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004617 biolink:NamedThing recurrent hypersomnia Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) tmpte7i6ely_mondo_relaxed.owl primary recurrent hypersomnia ICD9:327.13|UMLS:C0751226|DOID:8619|ICD10:G47.13|SCTID:426451004 owl:Class UBERON:0001895 biolink:NamedThing metencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001138 biolink:NamedThing carbon dioxide ice Ice which is primarily composed of carbon dioxide. tmpte7i6ely_mondo_relaxed.owl dry ice owl:Class MONDO:0009560 biolink:NamedThing oculotrichoanal syndrome tmpte7i6ely_mondo_relaxed.owl MOTA syndrome|MANITOBA oculotrichoanal syndrome|Manitoba oculotrichoanal syndrome|Marles syndrome|Manitoba Trichoanal syndrome|MOTA|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies|Marles-Greenberg-Persaud syndrome UMLS:C1855425|ICD9:759.89|SCTID:703539006|Orphanet:2717|GARD:0003395|MESH:C536022|ICD10:Q87.8|OMIM:248450 owl:Class HGNC:23399 biolink:NamedThing FREM1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26873 biolink:NamedThing terpenoid Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. tmpte7i6ely_mondo_relaxed.owl terpenoide|Terpenoid|terpenoids|terpenoides owl:Class CHEBI:35186 biolink:NamedThing terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. tmpte7i6ely_mondo_relaxed.owl terpeno|terpene|Terpen|terpenes|terpenos owl:Class UBERON:0004919 biolink:NamedThing external urethral sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8804 biolink:NamedThing PDGFRB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043297 biolink:NamedThing vibrio vulnificus infectious disease An disease or disorder caused by infection with Vibrio vulnificus. tmpte7i6ely_mondo_relaxed.owl Vibrio vulnificus infectious disease|vibrio vulnificus infection|Vibrio vulnificus disease or disorder|vibrio vulnificus infectious disease|Vibrio vulnificus caused disease or disorder SCTID:402965002|UMLS:C1274377|MESH:C536348|GARD:0009584 owl:Class NCBITaxon:672 biolink:NamedThing Vibrio vulnificus tmpte7i6ely_mondo_relaxed.owl Beneckea vulnifica GC_ID:11|PMID:8186099|PMID:1015934 ncbi_taxonomy owl:Class CHEBI:33893 biolink:NamedThing reagent A substance used in a chemical reaction to detect, measure, examine, or produce other substances. tmpte7i6ely_mondo_relaxed.owl reactif|reactivo|reagent|reagents owl:Class MONDO:0001277 biolink:NamedThing cerebral arteritis An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery. tmpte7i6ely_mondo_relaxed.owl cerebral artery inflammation|inflammation of cerebral artery SCTID:28366008|DOID:11390|UMLS:C0007773|ICD9:437.4 owl:Class UBERON:0004449 biolink:NamedThing cerebral artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013261 biolink:NamedThing dilated cardiomyopathy 1R Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. tmpte7i6ely_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in ACTC1|dilated cardiomyopathy type 1R|CMD1R|left ventricular noncompaction 4|cardiomyopathy, dilated, type 1R|cardiomyopathy, dilated, 1R|ACTC1 familial isolated dilated cardiomyopathy OMIM:613424|DOID:0110456|ICD10:I42.0|Orphanet:54260 owl:Class HGNC:143 biolink:NamedThing ACTC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410041 biolink:NamedThing venule of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24579 biolink:NamedThing CIB2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002319 biolink:NamedThing neural cell A cell that is part of the nervous system. tmpte7i6ely_mondo_relaxed.owl FMA:70333|CALOHA:TS-2040 tmeehan 2010-09-15T01:34:57Z cell owl:Class GO:0099523 biolink:NamedThing presynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the presynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001906 biolink:NamedThing cell killing Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. tmpte7i6ely_mondo_relaxed.owl necrosis owl:Class MONDO:0016855 biolink:NamedThing Mowat-Wilson syndrome due to monosomy 2q22 tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease and intellectual disability due to monosomy 2q22|Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Mowat-Wilson syndrome due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to del(2)(q22)|Mowat-Wilson syndrome due to del(2)q(22)|Mowat-Wilson syndrome due to monosomy type 2q22 UMLS:CN202198|ICD10:Q43.1|Orphanet:261537 owl:Class OBO:CHR_9606-chr2q22 biolink:NamedThing 2q22 (Human) tmpte7i6ely_mondo_relaxed.owl 147900000 136100000 hg38 owl:Class Ncb89e434b97c48e2bbe625435ec84203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0006596 biolink:NamedThing presumptive blood tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035038 biolink:NamedThing carpal tunnel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010028 biolink:NamedThing ventral part of pharyngeal pouch 4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007125 biolink:NamedThing pharyngeal pouch 4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012507 biolink:NamedThing retinal cone dystrophy 4 Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. tmpte7i6ely_mondo_relaxed.owl cone dystrophy caused by mutation in CACNA2D4|retinal cone dystrophy 4|retinal cone dystrophy type 4|CACNA2D4 cone dystrophy|RCD4 OMIM:610478|MESH:C566470|UMLS:C1864849|GARD:0010650 https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4 owl:Class HGNC:20202 biolink:NamedThing CACNA2D4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001750 biolink:NamedThing lacrimal apparatus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020730 biolink:NamedThing carpal tunnel syndrome 1 tmpte7i6ely_mondo_relaxed.owl amyotrophy, thenar, of carpal origin|CTS|carpal tunnel syndrome|CTS1 OMIM:115430 owl:Class HGNC:12405 biolink:NamedThing TTR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010160 biolink:NamedThing tyrosinemia type II Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. tmpte7i6ely_mondo_relaxed.owl tyrosinemia, type II|Oregon type tyrosinemia|Richner-Hanhart syndrome|tyrosine transaminase deficiency|tyrosinemia due to TAT deficiency|Richner Hanhart syndrome|Tat deficiency|tyrosinemia due to tyrosine aminotransferase deficiency|TYRSN2|tyrosine aminotransferase deficiency|tyrosinemia, type 2|tyrosinemia type II|oculocutaneous tyrosinemia|tyrosinemia type 2|keratosis palmoplantaris with corneal dystrophy|keratosis palmoplantaris-corneal dystrophy syndrome|Tyrosinosis oculocutaneous type|Tyrosinosis, oculocutaneous type DOID:0050725|MedDRA:10069463|OMIM:276600|GARD:0003105|ICD10:E70.2|NCIT:C129032|Orphanet:28378|SCTID:4887000 https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 owl:Class HGNC:11573 biolink:NamedThing TAT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014776 biolink:NamedThing midbrain neuromere tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009616 biolink:NamedThing presumptive midbrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004332 biolink:NamedThing proximal phalanx of pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003650 biolink:NamedThing metatarsal bone of digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002113 biolink:NamedThing peritoneal carcinoma A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement. tmpte7i6ely_mondo_relaxed.owl carcinoma of peritoneum|primary peritoneal carcinoma|peritoneum carcinoma SCTID:447781009|DOID:1791 owl:Class CHEBI:18049 biolink:NamedThing piperidine An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine. tmpte7i6ely_mondo_relaxed.owl Piperidine|pentamethylenimine|pentamethyleneimine|pentamethyleneamine|cypentil|hexazane|pip|perhydropyridine|Azacyclohexane|azinane|Piperidin|piperidine|Hexahydropyridine|cyclopentimine owl:Class MONDO:0007765 biolink:NamedThing hyperostosis cranialis interna tmpte7i6ely_mondo_relaxed.owl hyperostosis cranialis interna (disease)|HCIN|hyperostosis cranialis interna hyperostosis cranialis interna (disease) Orphanet:443098|ICD10:M85.2|HP:0005890|OMIM:144755|MESH:C564168 owl:Class CHEBI:46195 biolink:NamedThing paracetamol A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group. tmpte7i6ely_mondo_relaxed.owl Acetaminophen|p-hydroxyacetanilide|Acetaminofen|N-acetyl-p-aminophenol|p-acetaminophenol|paracetamolum|N-(4-hydroxyphenyl)acetamide|Panadol|acetaminophene|p-Acetylaminophenol|Tylenol|APAP|p-acetamidophenol|Paracetamol|acetaminofen|Acenol|paracetamol|p-hydroxyphenolacetamide|4-acetamidophenol|4'-hydroxyacetanilide|4-(Acetylamino)phenol owl:Class CHEBI:85234 biolink:NamedThing human blood serum metabolite Any metabolite (endogenous or exogenous) found in human blood serum samples. tmpte7i6ely_mondo_relaxed.owl human blood serum metabolites owl:Class UBERON:0004391 biolink:NamedThing epiphysis of first metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:09000006 biolink:NamedThing amount of carbon atom in water The amount of a carbon atom when measured in water. tmpte7i6ely_mondo_relaxed.owl water carbon atom amount owl:Class Ne1dd6c9ccc234ebfb688c12d0f8a4618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001213 biolink:NamedThing serous glue ear Chronic form of serous otitis media. tmpte7i6ely_mondo_relaxed.owl chronic serous otitis media|serous otitis media, chronic|chronic secretory otitis media, serous SCTID:81564005|ICD9:381.10|DOID:11181|ICD10:H65.20|UMLS:C0155421|ICD9:381.1|ICD9:381.19|ICD10:H65.2 owl:Class MONDO:0021458 biolink:NamedThing benign neoplasm of penis A benign neoplasm that involves the penis. tmpte7i6ely_mondo_relaxed.owl benign penile neoplasm|benign penile tumor|penis benign neoplasm|benign tumor of the penis|benign neoplasm of the penis|benign tumor of penis UMLS:C0149627|ICD10:D29.0|ICD9:222.1|SCTID:92286008|NCIT:C3489 owl:Class HGNC:3542 biolink:NamedThing F5 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000129 biolink:NamedThing 35-year-old human stage Adult stage that refers to an adult who is over 35 and under 36. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000128 biolink:NamedThing 34-year-old human stage Adult stage that refers to an adult who is over 34 and under 35. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004489 biolink:NamedThing musculature of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012582 biolink:NamedThing interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. tmpte7i6ely_mondo_relaxed.owl surfactant metabolism dysfunction, pulmonary, 3|surfactant metabolism dysfunction, pulmonary, type 3|interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency|pulmonary alveolar proteinosis, congenital, 3|interstitial lung disease due to ABCA3 deficiency|SMDP3 Orphanet:217563|MESH:C567046|Orphanet:440402|OMIM:610921|ICD10:J84.8|Orphanet:264675|UMLS:C1970456 owl:Class HGNC:33 biolink:NamedThing ABCA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002170 biolink:NamedThing chronic eustachian salpingitis Chronic form of otosalpingitis. tmpte7i6ely_mondo_relaxed.owl otosalpingitis, chronic|chronic otosalpingitis|chronic eustachian tube salpingitis ICD10:H68.02|ICD9:381.52|ICD10:H68.029|SCTID:194269002|DOID:1999|UMLS:C0155430 owl:Class PATO:0001562 biolink:NamedThing decreased mass A mass which is lower than normal or average. tmpte7i6ely_mondo_relaxed.owl low mass|small mass owl:Class MONDO:0001039 biolink:NamedThing tonsillitis Inflammation of the tonsillar tissue. tmpte7i6ely_mondo_relaxed.owl inflammation of tonsil|throat infection - tonsillitis|tonsilitis|chronic tonsillitis|tonsil inflammation ICD9:474.00|ICD10:J35.01|SCTID:90979004|DOID:10456|NCIT:C116006|UMLS:C0040425|UMLS:C0149517|MESH:D014069 owl:Class HP:0011110 biolink:NamedThing Recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. tmpte7i6ely_mondo_relaxed.owl IRecurrent inflammation of tonsils SNOMEDCT_US:90176007|MSH:D014069|UMLS:C0040425 peter 2011-06-10T07:46:38Z human_phenotype owl:Class HGNC:23063 biolink:NamedThing NUDT15 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035313 biolink:NamedThing posterior wall of laryngopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004056 biolink:NamedThing bladder papillary urothelial carcinoma An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003 tmpte7i6ely_mondo_relaxed.owl bladder papillary urothelial carcinoma|urinary bladder papillary transitional cell carcinoma|bladder urothelial papillary carcinoma|urothelial papillary carcinoma of the bladder DOID:6975|UMLS:C1518882|NCIT:C7383 owl:Class MONDO:0010502 biolink:NamedThing intellectual disability, X-linked 99, syndromic, female-restricted Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 99, syndromic, female-restricted|USP9X X-linked syndromic intellectual disability|MRXS99F|X-linked syndromic intellectual disability caused by mutation in USP9X|intellectual disability, X-linked 99, syndromic, female-restricted OMIM:300968 owl:Class HGNC:12632 biolink:NamedThing USP9X tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009494 biolink:NamedThing pharyngeal arch mesenchymal region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019362 biolink:NamedThing epidemic louse-borne typhus A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. tmpte7i6ely_mondo_relaxed.owl epidemic louse-borne typhus|typhus|epidemic typhus|sylvatic typhus|epidemic typhus fever Orphanet:83314|NCIT:C84689|ICD10:A75.0|DOID:0050480|MedDRA:10014979 owl:Class NCBITaxon:121224 biolink:NamedThing Pediculus humanus corporis tmpte7i6ely_mondo_relaxed.owl human body louse|Pediculus humanus humanus|human body lice GC_ID:1|PMID:23049889|PMID:18434207 NCBITaxon:121223 ncbi_taxonomy owl:Class MONDO:0027676 biolink:NamedThing congenital anomalies of kidney and urinary tract 2 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. tmpte7i6ely_mondo_relaxed.owl ureteropelvic junction obstruction|CAKUT2|hydronephrosis due to Pujo|multicystic renal dysplasia, bilateral|congenital anomalies of kidney and urinary tract type 2|congenital anomaly of kidney and urinary tract caused by mutation in TBX18|pelviureteric junction obstruction|TBX18 congenital anomaly of kidney and urinary tract|congenital anomalies of kidney and urinary tract 2 DOID:0080207|OMIM:143400 owl:Class HGNC:11595 biolink:NamedThing TBX18 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008998 biolink:NamedThing vasculature of brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008958 biolink:NamedThing Klippel-Feil syndrome 2, autosomal recessive Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. tmpte7i6ely_mondo_relaxed.owl Klippel-Feil syndrome 2, autosomal recessive|isolated Klippel-Feil syndrome caused by mutation in MEOX1|MEOX1 isolated Klippel-Feil syndrome|cervical vertebral fusion, autosomal recessive|Kfs, autosomal recessive|Klippel-FEIL syndrome 2, autosomal recessive|KFS2 DOID:0080590|UMLS:C1859209|MESH:C536888|OMIM:214300|Orphanet:2345 owl:Class HGNC:7013 biolink:NamedThing MEOX1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000333 biolink:NamedThing migratory neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. tmpte7i6ely_mondo_relaxed.owl FMA:86667 cell owl:Class OBO:MF_0000020 biolink:NamedThing mental process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. tmpte7i6ely_mondo_relaxed.owl A bodily process which brings into being, sustains or modifies a cognitive representation or a beahvior inducing state. GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' owl:Class CL:0000681 biolink:NamedThing radial glial cell A cell present in the developing CNS. Functions as both a precursor cell and as a scaffold to support neuronal migration. tmpte7i6ely_mondo_relaxed.owl forebrain radial glial cell Unlike that of mammals, the brain of adult teleost fish exhibits an intense and widespread neurogenic activity as a result of the persistence of radial glial cells acting as neural progenitors throughout life. cell owl:Class UBERON:0003592 biolink:NamedThing bronchus connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043953 biolink:NamedThing burkholderia infectious disease Infections with bacteria of the genus Burkholderia. tmpte7i6ely_mondo_relaxed.owl Burkholderia infection|infections, Burkholderia|Burkholderia disease or disorder|Burkholderia caused disease or disorder|infection, Burkholderia|burkholderia infectious disease|infection caused by Burkholderia|Burkholderia infectious disease EFO:1001280|MESH:D019121|SCTID:721736003 owl:Class NCBITaxon:32008 biolink:NamedThing Burkholderia tmpte7i6ely_mondo_relaxed.owl Pseudomonas RNA homology group II PMID:10555347|PMID:1283774|PMID:25566316|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0016447 biolink:NamedThing hair of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002100 biolink:NamedThing trunk tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1654 biolink:NamedThing Actinomyces tmpte7i6ely_mondo_relaxed.owl Actinocladothrix|Discomyces PMID:30186281|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0010690 biolink:NamedThing congenital stationary night blindness 1A Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene. tmpte7i6ely_mondo_relaxed.owl hemeralopia-myopia|CSNB, complete, X-linked|NBMI|NYX congenital stationary night blindness|congenital stationary night blindness caused by mutation in NYX|congenital stationary night blindness with myopia|nyctalopia|congenital stationary night blindness 1A X-linked|myopia-night blindness|CSNB1A|complete CSNB X-linked|congenital stationary night blindness type 1A|night blindness, congenital stationary, with myopia|congenital stationary night blindness 1A|night blindness, congenital stationary, type 1A UMLS:C0028077|OMIM:310500|DOID:0110870|Orphanet:215 owl:Class HGNC:8082 biolink:NamedThing NYX tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001507 biolink:NamedThing biceps brachii tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001509 biolink:NamedThing triceps brachii tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002081 biolink:NamedThing cardiac atrium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004867 biolink:NamedThing serine-type endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. tmpte7i6ely_mondo_relaxed.owl serpin activity|serine proteinase inhibitor activity|serine protease inhibitor activity owl:Class MONDO:0004339 biolink:NamedThing tuberculum sellae meningioma A meningioma that affects the tuberculum sellae. tmpte7i6ely_mondo_relaxed.owl meningioma of tuberculum sellae|meningioma of the tuberculum sellae|sella turcica neoplasm of tuberculum sellae|tuberculum sellae sella turcica neoplasm UMLS:C1336829|NCIT:C5284|DOID:7713 owl:Class UBERON:0035298 biolink:NamedThing tuberculum sellae tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014358 biolink:NamedThing AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal dominant 25|autosomal dominant intellectual disability 25|AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome|autosomal dominant mental retardation 25|MRD25|Xia-Gibbs syndrome|mental retardation, autosomal dominant 25 ICD10:Q87.8|OMIM:615829|Orphanet:412069|UMLS:C4014419|EFO:0009015|DOID:0070055 owl:Class HGNC:25230 biolink:NamedThing AHDC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007135 biolink:NamedThing nonsyndromic congenital nail disorder 6 tmpte7i6ely_mondo_relaxed.owl absent nails and dystrophic nails|nonsyndromic congenital nail disorder type 6|anonychia, partial|NDNC6|onychodystrophy-anonychia|anonychia/hyponychia and onychodystrophy|nail disorder, nonsyndromic congenital, 6 OMIM:107000|Orphanet:79143|GARD:0000710|DOID:0080084|Orphanet:90390|UMLS:C1862840 owl:Class UBERON:0001733 biolink:NamedThing soft palate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005448 biolink:NamedThing greater omentum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005602 biolink:NamedThing dorsal mesogastrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009747 biolink:NamedThing Navajo neurohepatopathy tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Navajo neurohepatopathy|MTDPS6|Navajo neuropathy|mitochondrial DNA depletion syndrome 6|MPV17-related hepatocerebral mitochondrial DNA depletion syndrome|Navajo familial neurogenic arthropathy|NN DOID:0080125|GARD:0003972|OMIM:256810|Orphanet:255229|MESH:C538344 owl:Class HGNC:7224 biolink:NamedThing MPV17 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005041 biolink:NamedThing mucosa of respiratory bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005125 biolink:NamedThing metanephric proximal straight tubule tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002300 biolink:NamedThing increased quality A quality that has a value that is increased compared to normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012644 biolink:NamedThing asphyxiating thoracic dystrophy 2 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. tmpte7i6ely_mondo_relaxed.owl asphyxiating thoracic dystrophy type 2|short-rib thoracic dysplasia 2 with or without polydactyly|IFT80 Jeune syndrome|asphyxiating thoracic dystrophy 2|ATD2|SRTD2|Jeune syndrome caused by mutation in IFT80 Orphanet:474|DOID:0110086|OMIM:611263|ICD10:Q77.2|MESH:C566982|UMLS:C1970005 owl:Class HGNC:29262 biolink:NamedThing IFT80 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14881 biolink:NamedThing ZEB2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009878 biolink:NamedThing mesopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002133 biolink:NamedThing atrioventricular valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017197 biolink:NamedThing osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. tmpte7i6ely_mondo_relaxed.owl osteopathia striata with pigmentary dermopathy including white forelock|osteopathia striata associated with familial dermopathy and white forelock|Whyte Murphy syndrome|Whyte-Murphy syndrome Orphanet:2779|GARD:0005562|ICD10:Q77.8|UMLS:C2931096|MESH:C536054 owl:Class GO:0006323 biolink:NamedThing DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure. tmpte7i6ely_mondo_relaxed.owl DNA organisation|DNA condensation|DNA organization owl:Class GO:0008301 biolink:NamedThing DNA binding, bending The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. tmpte7i6ely_mondo_relaxed.owl DNA bending activity|DNA bending involving DNA binding owl:Class MONDO:0009655 biolink:NamedThing Sanfilippo syndrome type A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. tmpte7i6ely_mondo_relaxed.owl heparan sulfamidase deficiency|mucopolysaccharidosis, type 3A|heparane sulfamidase deficiency|sulfamidase deficiency|mucopoly-saccharidosis type 3A|heparan sulfate sulfatase deficiency|Sanfilippo syndrome a|MPS III A|mucopolysaccharidosis type 3A|MPSIIIA|mucopolysaccharidosis type IIIA|mucopolysaccharidosis, type IIIA|MPS 3A|Sanfilippo A|Sanfilippo syndrome type A|MPS3A|MPS IIIA GARD:0002649|GARD:0007071|UMLS:C0086647|Orphanet:79269|ICD10:E76.2|SCTID:41572006|OMIM:252900|DOID:0111395|Orphanet:581|NCIT:C84897 owl:Class HGNC:10818 biolink:NamedThing SGSH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008482 biolink:NamedThing sulfite oxidase activity Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. tmpte7i6ely_mondo_relaxed.owl sulphite oxidase activity|sulfite:oxygen oxidoreductase activity owl:Class CL:0000712 biolink:NamedThing stratum granulosum cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0017262 biolink:NamedThing inherited non-syndromic ichthyosis A inherited ichthyosis that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic inherited ichthyosis|isolated inherited ichthyosis Orphanet:281082 owl:Class MONDO:0021128 biolink:NamedThing has an isolated presentation An characteristic of a disease in which the disease is manifested as an isolated feature. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001710 biolink:NamedThing lower jaw region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18623 biolink:NamedThing COG8 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001144 biolink:NamedThing testicular vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002532 biolink:NamedThing epiblast (generic) tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003889 biolink:NamedThing fallopian tube tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071953 biolink:NamedThing elastic fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. tmpte7i6ely_mondo_relaxed.owl elastin fiber|elastic fibre owl:Class UBERON:0003953 biolink:NamedThing posterior stroma of cornea tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001777 biolink:NamedThing substantia propria of cornea tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003909 biolink:NamedThing sinusoid tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20 biolink:NamedThing chromosome 20 (Human) tmpte7i6ely_mondo_relaxed.owl 20 64444167 0 hg38 owl:Class UBERON:0011956 biolink:NamedThing right hepatic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001114 biolink:NamedThing right lobe of liver tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007829 biolink:NamedThing pectoral girdle bone tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p32-p31 biolink:NamedThing 1p32-p31 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class UBERON:0007284 biolink:NamedThing presumptive neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011583 biolink:NamedThing cerebral amyloid angiopathy, APP-related A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. tmpte7i6ely_mondo_relaxed.owl HCHWAD|cerebral amyloid angiopathy, APP-related|cerebral amyloid angiopathy, APP-related, Arctic variant|amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|APP-related cerebral amyloid angiopathy|cerebral amyloid angiopathy, APP-related, Dutch variant|cerebral amyloid angiopathy, APP-related, Flemish variant|cerebral amyloid angiopathy, APP-related, Italian variant|amyloidosis, Cerebroarterial, APP-related|cerebral amyloid angiopathy, APP-related, Iowa variant Orphanet:100006|Orphanet:324703|OMIM:605714|Orphanet:324708|Orphanet:324718|Orphanet:324723|UMLS:C2751536|DOID:0070028|UMLS:C2751494|UMLS:C3888308|UMLS:C3888309|UMLS:C3888307|Orphanet:85458|Orphanet:324713 owl:Class MONDO:0011104 biolink:NamedThing cataract 3 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene. tmpte7i6ely_mondo_relaxed.owl CRYBB2 cataract (disease)|cataract 3, multiple types, with or without microcornea|CTRCT3|congenital cerulean type cataract 2|cataract 3 multiple types with or without microcornea|CCA2|cataract, congenital, cerulean type, 2|cataract (disease) caused by mutation in CRYBB2|cataract 3, multiple types OMIM:601547|Orphanet:98991|Orphanet:1377|MESH:C563294|Orphanet:98994|Orphanet:98985|ICD10:Q12.0|UMLS:C1832175|Orphanet:91492|Orphanet:98989|DOID:0110269 owl:Class HGNC:2398 biolink:NamedThing CRYBB2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0007313 biolink:NamedThing Cerebral degeneration tmpte7i6ely_mondo_relaxed.owl Neuroaxonal degeneration in the brain SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002 HP:0006874 human_phenotype owl:Class MONDO:0005743 biolink:NamedThing encephalitozoonosis Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. tmpte7i6ely_mondo_relaxed.owl infection by Encephalitozoon MESH:D016890|ICD9:136.8|EFO:0007250|DOID:4270|UMLS:C0085412|SCTID:12825006 owl:Class NCBITaxon:58839 biolink:NamedThing Encephalitozoon intestinalis tmpte7i6ely_mondo_relaxed.owl Septata intestinalis GC_ID:1 NCBITaxon:27986 ncbi_taxonomy owl:Class MONDO:0000978 biolink:NamedThing extrahepatic bile duct lipoma A rare benign adipose tissue neoplasm of the extrahepatic bile duct. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct lipoma|lipoma of the extrahepatic bile duct|lipoma of extrahepatic bile duct UMLS:C1333509|DOID:10209|NCIT:C5854 owl:Class MONDO:0013627 biolink:NamedThing 3M syndrome 3 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. tmpte7i6ely_mondo_relaxed.owl 3M syndrome 3|three M syndrome type 3|CCDC8 3-M syndrome|3M3|3-M syndrome caused by mutation in CCDC8|three M syndrome 3 Orphanet:2616|OMIM:614205|UMLS:C3280146 owl:Class HGNC:25367 biolink:NamedThing CCDC8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012266 biolink:NamedThing preeclampsia/eclampsia 4 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. tmpte7i6ely_mondo_relaxed.owl Preeclampsia/eclampsia type 4|STOX1 preeclampsia|preeclampsia/eclampsia 4|PEE4|preeclampsia caused by mutation in STOX1|PREECLAMPSIA/eclampsia 4 MESH:C563724|Orphanet:275555|OMIM:609404|UMLS:C1836255 owl:Class HGNC:23508 biolink:NamedThing STOX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000437 biolink:NamedThing cerebellar ataxia A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. tmpte7i6ely_mondo_relaxed.owl ataxia, cerebellar|cerebellar dysmetria|cerebellar Ataxias|ataxias, cerebellar|spinocerebellar ataxia|ataxia|cerebellar Dysmetrias|rare ataxia|spinocerebellar Degeneration|ataxia syndrome Orphanet:102002|SCTID:85102008|ICD9:334.3|GARD:0012060|UMLS:C0087012|NCIT:C82341|MESH:D002524|DOID:0050753 In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare owl:Class CL:0000955 biolink:NamedThing pre-B-II cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. tmpte7i6ely_mondo_relaxed.owl pre-B-lymphocyte|pre-BII cell BTO:0001133|CALOHA:TS-0819 pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. cell owl:Class GO:0071707 biolink:NamedThing immunoglobulin heavy chain V-D-J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpte7i6ely_mondo_relaxed.owl immunoglobulin V(D)J recombination|immunoglobulin V-D-J joining|immunoglobulin V(D)J joining owl:Class MONDO:0012476 biolink:NamedThing hereditary spastic paraplegia 30 Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia type 30|spastic paraplegia 30, autosomal recessive|KIF1A hereditary spastic paraplegia|SPG30|hereditary spastic paraplegia caused by mutation in KIF1A|autosomal recessive spastic paraplegia 30|autosomal spastic paraplegia type 30 SCTID:763377006|UMLS:C1835896|Orphanet:101010|DOID:0110781|OMIM:610357|ICD10:G11.4|MESH:C563677 owl:Class HGNC:888 biolink:NamedThing KIF1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010569 biolink:NamedThing X-linked complicated corpus callosum dysgenesis X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl corpus callosum, partial agenesis of, X-linked|X-linked partial corpus callosum agenesis|X-linked partial agenesis of corpus callosum|X-linked complicated corpus callosum agenesis ICD10:Q04.8|GARD:0012526|MESH:C564115|Orphanet:1497|UMLS:C1839909|Orphanet:275543|OMIM:304100 owl:Class CHEBI:48355 biolink:NamedThing non-polar solvent tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006108 biolink:NamedThing bile duct adenoma A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction. tmpte7i6ely_mondo_relaxed.owl Hepatocholangioma|adenoma of the bile duct|adenoma of bile duct|Cholangioma|bile duct adenoma|Hepatocholangiocellular adenoma|Cholangioadenoma|bile duct adenoma (morphologic abnormality)|CHOLANGIOMA, benign MESH:D002759|NCIT:C2942|SCTID:424091006|UMLS:C0008309|DOID:5381|ICDO:8160/0|EFO:1000123 owl:Class UBERON:0002456 biolink:NamedThing internal thoracic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004866 biolink:NamedThing eustachian tube disorder A disease involving the pharyngotympanic tube. tmpte7i6ely_mondo_relaxed.owl disease of pharyngotympanic tube|eustachian tube disorder|pharyngotympanic tube disease|disease of eustachian tube|auditory tube disorder|disease or disorder of pharyngotympanic tube|pharyngotympanic tube disease or disorder|disorder of pharyngotympanic tube|disorder of eustachian tube ICD10:H68|UMLS:C0271468|SCTID:69494008|ICD9:381.89|DOID:9739|ICD9:381.9|ICD9:381.8 owl:Class GO:0045087 biolink:NamedThing innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. tmpte7i6ely_mondo_relaxed.owl innate immunity|nonspecific immune response owl:Class MONDO:0013678 biolink:NamedThing EDICT syndrome EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. tmpte7i6ely_mondo_relaxed.owl keratoconus with cataract|endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|EDICT syndrome|KTCNCT|EDICT|keratoconus, familial, with early-onset anterior polar cataract|autosomal dominant keratoconus with early-onset anterior polar cataracts|familial keratoconus with cataract|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303|UMLS:C3280392|Orphanet:293936|SCTID:722439009 owl:Class ECTO:0000439 biolink:NamedThing exposure to formaldehyde An exposure to formaldehyde. tmpte7i6ely_mondo_relaxed.owl exposure to formaldehyde owl:Class MONDO:0013734 biolink:NamedThing microphthalmia, syndromic 11 Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic type 11|microphthalmia, syndromic 11|MCOPS11|VAX1 syndromic microphthalmia|syndromic microphthalmia caused by mutation in VAX1 UMLS:C3553077|OMIM:614402 owl:Class HGNC:12660 biolink:NamedThing VAX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0600019 biolink:NamedThing acinar dysplasia caused by mutation in TBX4 Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. tmpte7i6ely_mondo_relaxed.owl TBX4 acinar dysplasia|TBX4 related acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class HGNC:11603 biolink:NamedThing TBX4 tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0008028 biolink:NamedThing reproductive shoot apical meristem A shoot apical meristem (PO:0020148) that gives rise to the apical growth of reproductive tissues and organs. tmpte7i6ely_mondo_relaxed.owl 生殖シュート頂端 分裂組織 (Japanese, exact)|meristema apical reproductivo del epiblasto (epiblastema) (Spanish, exact) PO_GIT:36 plant_anatomy owl:Class PO:0025222 biolink:NamedThing reproductive shoot apex A shoot apex that has as part a reproductive shoot apical meristem. tmpte7i6ely_mondo_relaxed.owl ápice reproductivo del epiblasto (epiblastema) (Spanish, exact)|生殖シュート頂、茎頂 (Japanese, exact) rwalls 2010-12-20T08:47:03Z plant_anatomy owl:Class MONDO:0019612 biolink:NamedThing functioning gonadotropic adenoma Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). tmpte7i6ely_mondo_relaxed.owl gonadotroph adenoma|functioning pituitary gonadotropic adenoma ICD10:D35.2|SCTID:254960002|Orphanet:91348|UMLS:C0346304 owl:Class MONDO:0018984 biolink:NamedThing Oroya fever An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. tmpte7i6ely_mondo_relaxed.owl bartonellosis due to Bartonella bacilliformis infection|Carrión disease|Bartonella bacilliformis infectious disease|Bartonella bacilliformis disease or disorder|Carrion's disease|Bartonella bacilliformis caused disease or disorder|Oroya fever|Carrion disease UMLS:CN205422|NCIT:C128441|SCTID:240453002|Orphanet:64692|SCTID:262461007|DOID:0050398|UMLS:C0029307|ICD10:A44.0|MESH:D001474 owl:Class MONDO:0014566 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2U Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Charcot-Marie-Tooth disease type 2U|Charcot-Marie-Tooth neuropathy, type 2U|CMT2U|Charcot-Marie-Tooth disease, axonal, type 2U|MARS Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|Charcot-Marie-Tooth neuropathy type 2U|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|autosomal dominant axonal Charcot-Marie-Tooth disease type 2U Orphanet:397735|SCTID:765046002|OMIM:616280|UMLS:C4084821|ICD10:G60.0|DOID:0110173 owl:Class HGNC:6898 biolink:NamedThing MARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002270 biolink:NamedThing viral gastritis Inflammation of the stomach resulting from viral infection. tmpte7i6ely_mondo_relaxed.owl viral gastritis|Viruses gastritis (disease)|Viruses caused gastritis (disease) NCIT:C27184|DOID:2327|SCTID:285344007|UMLS:C0563238|ICD9:008.8 owl:Class UBERON:0009521 biolink:NamedThing anal membrane endodermal component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001482 biolink:NamedThing muscle of shoulder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004476 biolink:NamedThing musculature of shoulder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005260 biolink:NamedThing autism Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpte7i6ely_mondo_relaxed.owl infantile autism|autism|autism, susceptiblity to|autism spectrum disorder|Kanner's syndrome|autistic disorder of childhood onset|autism (disease)|autistic disorder|childhood autism autism (disease) NCIT:C97161|ICD10:F84.0|DOID:12849|MESH:D001321|HP:0000717|OMIM:209850|ICD9:299.0|EFO:0003758 https://github.com/monarch-initiative/mondo/issues/3954 owl:Class CL:1001582 biolink:NamedThing lateral ventricle neuron Neuron of lateral ventricle. tmpte7i6ely_mondo_relaxed.owl lateral ventricle neural cell|lateral ventricle neuronal cell|lateral ventricle neuronal cells CALOHA:TS-1261 owl:Class ECTO:3000001 biolink:NamedThing exposure to virus A history of exposure to Viruses. tmpte7i6ely_mondo_relaxed.owl Viruses exposure owl:Class UBERON:0001167 biolink:NamedThing wall of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006241 biolink:NamedThing future spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098651 biolink:NamedThing basement membrane collagen trimer Any collagen timer that is part of a basement membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005604 biolink:NamedThing basement membrane A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. tmpte7i6ely_mondo_relaxed.owl basement lamina|basal lamina|lamina densa owl:Class UBERON:0010323 biolink:NamedThing cranial skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011137 biolink:NamedThing axial skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009174 biolink:NamedThing protein-losing enteropathy Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. tmpte7i6ely_mondo_relaxed.owl CHAPLE|protein-losing enteropathy|complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy|enteropathy, exudative|exudative enteropathy|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy|enteropathy, PROTEIN-losing|protein-losing enteropathy (disease) protein-losing enteropathy (disease) UMLS:C0033680|DOID:10611|Orphanet:566175|MESH:D011504|SCTID:22542007|HP:0002243|ICD9:579.8|OMIM:226300 owl:Class ENVO:01001477 biolink:NamedThing liquid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of liquid material, shaped by one or more environmental processes. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005777 biolink:NamedThing peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. tmpte7i6ely_mondo_relaxed.owl peroxisomal|peroxisome vesicle owl:Class MONDO:0013611 biolink:NamedThing retinitis pigmentosa 62 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 62|retinitis pigmentosa type 62|retinitis pigmentosa caused by mutation in MAK|MAK retinitis pigmentosa|RP62 OMIM:614181|DOID:0110380|ICD10:H35.5|UMLS:C3280042 owl:Class HGNC:6816 biolink:NamedThing MAK tmpte7i6ely_mondo_relaxed.owl owl:Class N720014da92d345ac864f537e4626bb26 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0011201 biolink:NamedThing muscle layer of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009615 biolink:NamedThing midbrain hindbrain boundary neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003063 biolink:NamedThing prechordal plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018055 biolink:NamedThing pediatric hepatocellular carcinoma Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age. tmpte7i6ely_mondo_relaxed.owl childhood liver cell carcinoma|childhood-onset HCC|Pediatric carcinoma of the liver cell|pediatric liver cell carcinoma|pediatric carcinoma of liver cell|childhood carcinoma of liver cell|pediatric HCC|pediatric hepatoma|hepatocellular cancer|childhood-onset hepatocellular carcinoma|childhood hepatoma|childhood hepatocellular carcinoma|childhood carcinoma of the liver cell NCIT:C7955|DOID:0070322|UMLS:CN204349|Orphanet:33402|GARD:0009331|ICD10:C22.0 owl:Class MONDO:0012500 biolink:NamedThing chilblain lupus 1 Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene. tmpte7i6ely_mondo_relaxed.owl chilblain lupus caused by mutation in TREX1|CHBL1|chilblain lupus type 1|TREX1 chilblain lupus|chilblain lupus 1 Orphanet:90280|OMIM:610448 owl:Class HGNC:12269 biolink:NamedThing TREX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100284 biolink:NamedThing X-linked intellectual disability An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2670 owl:Class MONDO:0013461 biolink:NamedThing inosine triphosphatase deficiency An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. tmpte7i6ely_mondo_relaxed.owl inosine triphosphate pyrophosphohydrolase deficiency|inosine triphosphatase deficiency NCIT:C129974|SCTID:238011005|MESH:C564127|Orphanet:319684|UMLS:C0342800|OMIM:613850|ICD9:277.2 owl:Class CHEBI:15036 biolink:NamedThing retinoate tmpte7i6ely_mondo_relaxed.owl 3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate|retinoate owl:Class MONDO:0010947 biolink:NamedThing Budd-Chiari syndrome Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. tmpte7i6ely_mondo_relaxed.owl membranous obstruction of the inferior vena cava|BDCHS|membranous obstruction of Inferior vena cava|Budd-Chiari syndrome Orphanet:131|UMLS:C0856761|MESH:D006502|ICD10:I82.0|SCTID:82385007|OMIM:600880|MedDRA:10006537|GARD:0005968|ICD9:453.0 https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome owl:Class MONDO:0013158 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. tmpte7i6ely_mondo_relaxed.owl MDDGA6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|Walker-Warburg syndrome or muscle-eye-brain disease, large-related NCIT:C126743|DOID:0111242|Orphanet:588|UMLS:C3150414|OMIM:613154|Orphanet:899 owl:Class HGNC:6511 biolink:NamedThing LARGE1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003560 biolink:NamedThing spinal cord arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014372 biolink:NamedThing cone-rod dystrophy 19 Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 19|TTLL5 cone-rod dystrophy|cone-rod dystrophy caused by mutation in TTLL5|cone-rod dystrophy 19|CORD19 UMLS:C4014501|DOID:0111025|OMIM:615860 owl:Class HGNC:19963 biolink:NamedThing TTLL5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007561 biolink:NamedThing multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. tmpte7i6ely_mondo_relaxed.owl multiple epiphyseal dysplasia, Comp-related|multiple epiphyseal dysplasia COMP-related|multiple epiphyseal dysplasia (disease) caused by mutation in COMP|Polyepiphyseal dysplasia type 1|epiphyseal dysplasia, multiple, 1|epiphyseal dysplasia, Fairbank type|EDM1|multiple epiphyseal dysplasia 1|epiphyseal dysplasia, multiple, type 1|MED1|epiphyseal dysplasia, ribbing type|COMP multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia multiple 1 DOID:0070303|SCTID:715673002|UMLS:C4275061|UMLS:C1838280|Orphanet:93308|OMIM:132400|GARD:0002180|ICD10:Q77.3 https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 owl:Class HGNC:2227 biolink:NamedThing COMP tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:58315 biolink:NamedThing L-tyrosine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl L-tyrosine|(2S)-2-azaniumyl-3-(4-hydroxyphenyl)propanoate|(2S)-2-ammonio-3-(4-hydroxyphenyl)propanoate owl:Class CHEBI:32760 biolink:NamedThing L-tyrosinate(1-) An optically active form of tyrosinate having L-configuration. tmpte7i6ely_mondo_relaxed.owl hydrogen L-tyrosinate|L-tyrosine anion|L-tyrosine monoanion|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|L-tyrosinate(1-) owl:Class UBERON:0012276 biolink:NamedThing endometrium glandular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003115 biolink:NamedThing pharyngeal arch 4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001434 biolink:NamedThing skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004770 biolink:NamedThing articular system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014604 biolink:NamedThing Parkinson disease 21 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene. tmpte7i6ely_mondo_relaxed.owl DNAJC13 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in DNAJC13|Parkinson disease 21|Parkinson disease type 21|PARK21 OMIM:616361|DOID:0111251|Orphanet:411602|UMLS:C4225353 owl:Class HGNC:30343 biolink:NamedThing DNAJC13 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001694 biolink:NamedThing petrous part of temporal bone tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:49169 biolink:NamedThing D-dopa The D-enantiomer of dopa. tmpte7i6ely_mondo_relaxed.owl (2R)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|D-3,4-dihydroxyphenylalanine|(+)-3,4-dihydroxyphenylalanine|D-dopa|(+)-3-(3,4-dihydroxyphenyl)alanine|3,4-dihydroxy-D-phenylalanine|dopa D-form|D-3-(3,4-dihydroxyphenyl)alanine|3-hydroxy-D-tyrosine owl:Class UBERON:0002291 biolink:NamedThing central canal of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4588 biolink:NamedThing GRIN2D tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005356 biolink:NamedThing Rathke's pouch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002472 biolink:NamedThing stylopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011583 biolink:NamedThing stylopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11957 biolink:NamedThing MED12 tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9000171 biolink:NamedThing exposure to acetate An exposure to acetate. tmpte7i6ely_mondo_relaxed.owl exposure to acetate owl:Class MONDO:0002795 biolink:NamedThing adult central nervous system primitive neuroectodermal neoplasm A central nervous system embryonal tumor, not otherwise specified that occurs in adults. tmpte7i6ely_mondo_relaxed.owl adult CNS primitive neuroectodermal neoplasm|adult central nervous system primitive neuroectodermal neoplasm|adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal tumor|adult central primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of adults|adult CNS PNET DOID:3865|UMLS:C1332196|NCIT:C5411 owl:Class GO:0050810 biolink:NamedThing regulation of steroid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpte7i6ely_mondo_relaxed.owl regulation of steroid biosynthesis|regulation of steroid synthesis|regulation of steroid anabolism|regulation of steroid formation|regulation of steroidogenesis owl:Class HP:0006530 biolink:NamedThing Abnormal pulmonary interstitial morphology Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. tmpte7i6ely_mondo_relaxed.owl Abnormality in area between air sacs in lung|Interstitial lung disease|Abnormal lung parenchyma morphology|Interstitial pulmonary disease SNOMEDCT_US:233703007|UMLS:C0206062|MSH:D017563 HP:0006547|HP:0006513 human_phenotype owl:Class UBERON:0005176 biolink:NamedThing tooth enamel organ tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14025 biolink:NamedThing SLC5A7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014927 biolink:NamedThing Joubert syndrome 27 Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 27|JBTS27|B9D1 Joubert syndrome|Joubert syndrome caused by mutation in B9D1|Joubert syndrome type 27 UMLS:C4310706|DOID:0110996|OMIM:617120 owl:Class HGNC:24123 biolink:NamedThing B9D1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006183 biolink:NamedThing disseminated peritoneal leiomyomatosis A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously. tmpte7i6ely_mondo_relaxed.owl LPD|disseminated peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminate|leiomyomatosis peritonealis disseminata|DPL|diffuse peritoneal leiomyomatosis ICD10:D20.1|Orphanet:71274|DOID:5728|EFO:1000220|SCTID:62557001|GARD:0012843|NCIT:C3958|UMLS:C0267785 owl:Class MONDO:0020523 biolink:NamedThing familial parathyroid adenoma An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary parathyroid gland adenoma ICD10:E21.0|UMLS:C1840403|OMIM:145000|Orphanet:99877 owl:Class GO:0042747 biolink:NamedThing circadian sleep/wake cycle, REM sleep A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050802 biolink:NamedThing circadian sleep/wake cycle, sleep The part of the circadian sleep/wake cycle where the organism is asleep. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018110 biolink:NamedThing lethal idiopathic viral infection tmpte7i6ely_mondo_relaxed.owl UMLS:CN776879|Orphanet:35064 owl:Class UBERON:0002021 biolink:NamedThing occipital lobe tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7660 biolink:NamedThing NCF1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006956 biolink:NamedThing complement activation Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. tmpte7i6ely_mondo_relaxed.owl complement response|complement cascade|complement activity owl:Class NCBITaxon:2039 biolink:NamedThing Tropheryma whipplei tmpte7i6ely_mondo_relaxed.owl Whipple's bacillus|Tropheryma whippelii|Whipple's disease-associated bacterium GC_ID:11|PMID:10555351|PMID:11491348|PMID:8863438|PMID:1377787|PMID:10843039 ncbi_taxonomy owl:Class UBERON:0004664 biolink:NamedThing aorta tunica adventitia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006568 biolink:NamedThing hypothalamic nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001898 biolink:NamedThing hypothalamus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015569 biolink:NamedThing congenital nasal pyriform aperture stenosis with holoprosencephaly tmpte7i6ely_mondo_relaxed.owl apertura pyriformis with holoprosencephaly ICD10:Q30.8|Orphanet:162521 owl:Class MONDO:0014665 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2V Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene. tmpte7i6ely_mondo_relaxed.owl hereditary adult-onset painful axonal polyneuropathy|Charcot-Marie-Tooth neuropathy, type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation|Charcot-Marie-Tooth disease, axonal, type 2V|CMT2V|Charcot-Marie-Tooth disease caused by mutation in NAGLU|Charcot-Marie-Tooth neuropathy type 2V|NAGLU Charcot-Marie-Tooth disease|autosomal dominant axonal Charcot-Marie-Tooth disease type 2V|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V Orphanet:447964|ICD10:G60.0|UMLS:C4225306|DOID:0110178|OMIM:616491 owl:Class HGNC:7632 biolink:NamedThing NAGLU tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012037 biolink:NamedThing intellectual disability, autosomal recessive 3 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 3|intellectual disability, autosomal recessive 3|CC2D1A autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A|mental retardation, autosomal recessive type 3|MRT3|intellectual disability, autosomal recessive type 3 UMLS:C1838023|Orphanet:88616|OMIM:608443|MESH:C563929 owl:Class HGNC:30237 biolink:NamedThing CC2D1A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000107 biolink:NamedThing cleavage stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016170 biolink:NamedThing chronic polyradiculoneuropathy Chronic form of polyradiculoneuropathy. tmpte7i6ely_mondo_relaxed.owl polyradiculoneuropathy, chronic Orphanet:208978|ICD10:G61.8 owl:Class FOODON:00001172 biolink:NamedThing nut food product tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F16972 The default nut product is a whole, raw nut - meaning that the kernel is whole, and moderately or significantly dried, but not baked. Minimal references to nuts often leave ambiguous whether the shell is on or off. "I ate a peanut" doesn't clarify whether I ate a shell-off nut or whether I did the shelling. Damion Dooley owl:Class FOODON:03400260 biolink:NamedThing nut or nut product (us cfr) Nuts in all forms, including nut butters and pastes. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0260 http://langual.org owl:Class UBERON:0001279 biolink:NamedThing portal triad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007798 biolink:NamedThing vascular system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012622 biolink:NamedThing leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy with brain stem and spinal cord involvement - high lactate|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation|LBSL|mitochondrial aspartyl-tRNA synthetase deficiency GARD:0012652|SCTID:703537008|Orphanet:137898|MESH:C567009|OMIM:611105|ICD10:E75.2 owl:Class HGNC:25538 biolink:NamedThing DARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014000 biolink:NamedThing congenital heart defects, multiple types, 2 Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. tmpte7i6ely_mondo_relaxed.owl congenital heart malformation caused by mutation in TAB2|congenital heart defects, multiple types, 2|TAB2 congenital heart malformation|CHTD2 UMLS:C3554279|OMIM:614980 owl:Class MONDO:0011686 biolink:NamedThing DNA ligase IV deficiency LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). tmpte7i6ely_mondo_relaxed.owl LIG4 syndrome|ligase 4 syndrome|DNA ligase IV deficiency SCTID:724177005|OMIM:606593|NCIT:C122657|MESH:C564694|DOID:0060021|Orphanet:99812|ICD10:D81.1|UMLS:C1847827 owl:Class HGNC:6601 biolink:NamedThing LIG4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005358 biolink:NamedThing ventricle of nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001001 biolink:NamedThing baritosis A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. tmpte7i6ely_mondo_relaxed.owl deposition of barium in the lungs|inhalation of barytes DOID:10321|MESH:C537080|UMLS:C0340177|NCIT:C34410|GARD:0008371|SCTID:50076003|ICD9:503 Editor note: request term from ENVO https://rarediseases.info.nih.gov/diseases/8371/baritosis owl:Class ENVO:01001284 biolink:NamedThing barium dust Dust which is primarily composed of barium particles. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005691 biolink:NamedThing cardiovirus infectious disease Infections caused by viruses of the genus cardiovirus, family picornaviridae. tmpte7i6ely_mondo_relaxed.owl infections, Cardiovirus|Cardiovirus infection|infection, Cardiovirus MESH:D018188|UMLS:C0206617|EFO:0007194 owl:Class NCBITaxon:12103 biolink:NamedThing Cardiovirus tmpte7i6ely_mondo_relaxed.owl Cardioviruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000086 biolink:NamedThing zona pellucida tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001660 biolink:NamedThing Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. tmpte7i6ely_mondo_relaxed.owl Common arterial trunk|Persistant truncus arteriosus Fyler:0500|Fyler:500|UMLS:C0041206|MSH:D014338|ICD-10:Q20.0|UMLS:C4020867|SNOMEDCT_US:58140002 human_phenotype owl:Class MONDO:0016969 biolink:NamedThing partial duplication of the long arm of chromosome 19 tmpte7i6ely_mondo_relaxed.owl partial trisomy of the long arm of chromosome 19|partial trisomy of chromosome 19q|partial trisomy 19q|trisomy 19q|partial duplication of the long arm of chromosome type 19|Duplication 19q|chromosome 19q duplication|partial duplication of chromosome 19q|19q trisomy|19q duplication MESH:C538311|GARD:0005326|UMLS:C0795871|Orphanet:262986 owl:Class OBO:CHR_9606-chr19q biolink:NamedThing 19q (Human) tmpte7i6ely_mondo_relaxed.owl 58617616 26200000 hg38 owl:Class MONDO:0009875 biolink:NamedThing achromatopsia 3 Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene. tmpte7i6ely_mondo_relaxed.owl rod monochromacy 1|ACHM1 (formerly)|achromatopsia caused by mutation in CNGB3|Rod monochromacy 1 (formerly)|CNGB3 achromatopsia|achromatopsia type 3|rod monochromacy 1, formerly|achromatopsia with myopia|ACHM1, formerly|RMCH1|Rod monochromatism 1 (formerly)|ACHM3|total colorblindness with myopia|RMCH1 (formerly)|rod monochromatism 1, formerly|ACHM1|achromatopsia 3|rod monochromatism 1 UMLS:C1849792|GARD:0009650|OMIM:262300|DOID:0110008|Orphanet:49382 owl:Class HGNC:2153 biolink:NamedThing CNGB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014189 biolink:NamedThing age related macular degeneration 13 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene. tmpte7i6ely_mondo_relaxed.owl ARMD13|macular Degeneration, age-related, type 13|macular degeneration, age-related, 13|age related macular degeneration type 13|CFI age-related macular degeneration|age-related macular degeneration caused by mutation in CFI OMIM:615439|DOID:0110025|UMLS:C3809523 owl:Class HGNC:5394 biolink:NamedThing CFI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015607 biolink:NamedThing partial chromosome Y deletion Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome Y|partial deletion of Y|partial deletion of the long arm of the Y chromosome|partial deletion of Y chromosome short arm|Male sterility due to chromosome Y deletion|Y-chromosome microdeletions MESH:C536297|GARD:0004230|Orphanet:1646|SCTID:717158001|ICD10:Q98.6|HGNC:11311|OMIM:400042|OMIM:415000 owl:Class OBO:CHR_9606-chrY biolink:NamedThing chromosome Y (Human) tmpte7i6ely_mondo_relaxed.owl Y 57227415 0 hg38 owl:Class MONDO:0002944 biolink:NamedThing external ear carcinoma A carcinoma that arises from epithelial cells of the external ear tmpte7i6ely_mondo_relaxed.owl carcinoma of the external ear|carcinoma of the external Ear|external ear carcinoma|carcinoma of external Ear|external Ear carcinoma|carcinoma of external ear NCIT:C6081|DOID:4288|UMLS:C1333492 owl:Class UBERON:0001691 biolink:NamedThing external ear tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003431 biolink:NamedThing lipoadenoma An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells. tmpte7i6ely_mondo_relaxed.owl lipoadenoma|lipoadenoma (morphologic abnormality)|adenolipoma, benign NCIT:C4159|DOID:5398|UMLS:C0334325|ICDO:8324/0 owl:Class CL:0000136 biolink:NamedThing fat cell A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. tmpte7i6ely_mondo_relaxed.owl adipose cell|adipocyte FMA:63880|BTO:0000443|CALOHA:TS-0012 CL:0000450 cell owl:Class MONDO:0005366 biolink:NamedThing chronic hepatitis B virus infection Chronic form of hepatitis B infection. tmpte7i6ely_mondo_relaxed.owl hepatitis B, chronic|chronic Hepatitis B|hepatitis B infection, chronic EFO:0004239|UMLS:C0524909|MESH:D019694 owl:Class UBERON:0011757 biolink:NamedThing differentiated genital tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0047045 biolink:NamedThing testosterone 17-beta-dehydrogenase (NADP+) activity Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione. tmpte7i6ely_mondo_relaxed.owl 17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity|testosterone 17beta-dehydrogenase (NADP+)|NADP-dependent testosterone-17beta-oxidoreductase activity|17-ketoreductase activity owl:Class UBERON:0011856 biolink:NamedThing acinus of lactiferous gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001782 biolink:NamedThing pigmented layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022303 biolink:NamedThing nervous system cell part layer tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002124 biolink:NamedThing laminar A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8853 biolink:NamedThing PEX11B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097659 biolink:NamedThing nucleic acid-templated transcription The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:17895 biolink:NamedThing L-tyrosine An optically active form of tyrosine having L-configuration. tmpte7i6ely_mondo_relaxed.owl L-Tyrosin|Tyrosine|Y|4-hydroxy-L-phenylalanine|L-tyrosine|(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid|Tyr|TYROSINE|L-Tyrosine|(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid|(S)-Tyrosine|(S)-3-(p-Hydroxyphenyl)alanine|(-)-alpha-amino-p-hydroxyhydrocinnamic acid|(S)-(-)-Tyrosine|(S)-alpha-amino-4-hydroxybenzenepropanoic acid owl:Class MONDO:0009269 biolink:NamedThing geleophysic dysplasia 1 Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene. tmpte7i6ely_mondo_relaxed.owl Geleophysic dysplasia type 1|GELEOPHYSIC dysplasia 1|geleophysic dysplasia caused by mutation in ADAMTSL2|ADAMTSL2 geleophysic dysplasia|geleophysic dysplasia 1|GPHYSD1 UMLS:C3278147|Orphanet:2623|DOID:0111725|OMIM:231050 owl:Class HGNC:14631 biolink:NamedThing ADAMTSL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024563 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 1 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene. tmpte7i6ely_mondo_relaxed.owl encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1|IIAE1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1|herpes simplex encephalitis caused by mutation in UNC93B1|herpes simplex encephalitis, susceptibility to, 1|UNC93B1 herpes simplex encephalitis|encephalopathy, acute, infection-induced, susceptibility to, 1 OMIM:610551|Orphanet:1930 owl:Class HGNC:13481 biolink:NamedThing UNC93B1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014540 biolink:NamedThing white matter lamina of cerebellum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000990 biolink:NamedThing reproductive system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013566 biolink:NamedThing Fanconi anemia complementation group L Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia, complementation group L|Fanconi anemia complementation group L|Fanconi anemia complementation group type L|Fanconi Anemia, complementation group type 50|FANCL|Fanconi Anemia, complementation Group 50|FANCL Fanconi anemia|Fanconi anemia caused by mutation in FANCL DOID:0111082|OMIM:614083 owl:Class HGNC:20748 biolink:NamedThing FANCL tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045671 biolink:NamedThing negative regulation of osteoclast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of osteoclast differentiation|down regulation of osteoclast differentiation|inhibition of osteoclast differentiation|downregulation of osteoclast differentiation owl:Class GO:0030316 biolink:NamedThing osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. tmpte7i6ely_mondo_relaxed.owl osteoclast cell differentiation owl:Class GO:0060004 biolink:NamedThing reflex An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002080 biolink:NamedThing pancreatic centro-acinar cell A cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the acinus. This cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types. tmpte7i6ely_mondo_relaxed.owl centroacinar cell of Langerhans|pancreatic centroacinar cell FMA:62455 tmeehan 2010-06-30T08:49:52Z cell owl:Class UBERON:0001263 biolink:NamedThing pancreatic acinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013430 biolink:NamedThing Meier-Gorlin syndrome 3 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene. tmpte7i6ely_mondo_relaxed.owl ORC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 3|MGORS3|Meier-GORLIN syndrome 3|Meier-Gorlin syndrome caused by mutation in ORC6|Meier-Gorlin syndrome 3 UMLS:C3151113|DOID:0080514|OMIM:613803|Orphanet:2554 owl:Class HGNC:17151 biolink:NamedThing ORC6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013976 biolink:NamedThing ectodermal dysplasia 9, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia 9, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13|HOXC13 pure hair and nail ectodermal dysplasia|ECTD9 DOID:0111656|UMLS:C3554127|OMIM:614931|Orphanet:69084 owl:Class HGNC:5125 biolink:NamedThing HOXC13 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001828 biolink:NamedThing gingiva tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010719 biolink:NamedThing girdle skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002091 biolink:NamedThing appendicular skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015434 biolink:NamedThing ring chromosome 18 Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. tmpte7i6ely_mondo_relaxed.owl Ring chromosome 18 syndrome|R18|Ring 18|chromosome 18 ring|Ring chromosome type 18 UMLS:C0265475|ICD10:Q93.2|GARD:0006077|MESH:C538304|Orphanet:1442|SCTID:88154004|EFO:0001226 https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18 owl:Class OBO:CHR_9606-chr18 biolink:NamedThing chromosome 18 (Human) tmpte7i6ely_mondo_relaxed.owl 18 80373285 0 hg38 owl:Class CL:0002622 biolink:NamedThing prostate stromal cell A stromal cell of the prostate. tmpte7i6ely_mondo_relaxed.owl BTO:0003972 tmeehan 2011-03-14T02:11:10Z cell owl:Class MONDO:0021228 biolink:NamedThing brainstem neoplasm A neoplasm (disease) that involves the brainstem. tmpte7i6ely_mondo_relaxed.owl brain stem tumor|Brain stem neoplasm|neoplasm of the brain stem|neoplasm of brainstem|neoplasm of the brainstem|tumor of the brainstem|tumor of the brain stem|tumor of brain stem|brainstem tumor|tumor of brainstem|neoplasm of brain stem|brainstem neoplasm (disease) NCIT:C4869|Orphanet:36414 owl:Class OBO:CHR_9606-chr12p12.1 biolink:NamedThing 12p12.1 (Human) tmpte7i6ely_mondo_relaxed.owl 26300000 21100000 hg38 owl:Class HGNC:11036 biolink:NamedThing SLC5A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016887 biolink:NamedThing entire extraembryonic component tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25751 biolink:NamedThing TRAPPC11 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001200 biolink:NamedThing submucosa of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002203 biolink:NamedThing vasculature of eye tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014718 biolink:NamedThing developmental and epileptic encephalopathy, 34 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene. tmpte7i6ely_mondo_relaxed.owl SLC12A5 early infantile epileptic encephalopathy|DEE34|EIEE34|epileptic encephalopathy, early infantile, 34|epileptic encephalopathy, early infantile, 34; EIEE34|early infantile epileptic encephalopathy caused by mutation in SLC12A5|epileptic encephalopathy, early infantile, type 34 UMLS:C4225257|DOID:0080460|OMIM:616645 owl:Class OBO:CHR_9606-chr17p13.3 biolink:NamedThing 17p13.3 (Human) tmpte7i6ely_mondo_relaxed.owl 3400000 0 hg38 owl:Class UBERON:0001796 biolink:NamedThing aqueous humor of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1161 biolink:NamedThing CEP55 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006601 biolink:NamedThing presumptive ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001789 biolink:NamedThing outer nuclear layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000870 biolink:NamedThing regulation of progesterone secretion Any process that modulates the frequency, rate or extent of progesterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009579 biolink:NamedThing Frank-Ter Haar syndrome Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. tmpte7i6ely_mondo_relaxed.owl Melnick-Needles syndrome, autosomal recessive, formerly|Frank Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive|megalocornea, multiple skeletal anomalies, and developmental delay|Frank-Ter Haar syndrome|Ter Haar syndrome|FTHS|FRANK-TER Haar syndrome|autosomal recessive Melnick-Needles syndrome (formerly)|Borrone Dermatocardioskeletal syndrome SCTID:720958002|GARD:0005138|ICD10:Q87.8|MESH:C537274|OMIM:249420|Orphanet:137834|DOID:0111789|UMLS:C1855305 https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome owl:Class UBERON:0006059 biolink:NamedThing falx cerebri tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002224 biolink:NamedThing Woolly hair The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. tmpte7i6ely_mondo_relaxed.owl Wooly hair|Nappy hair texture|Afro-textured hair|Kinked hair|Kinky hair texture UMLS:C4072835|UMLS:C0343073|SNOMEDCT_US:52564001|MEDDRA:10048017|UMLS:C4073292|UMLS:C4072836 See figures in PMID:20464096. human_phenotype owl:Class HGNC:4887 biolink:NamedThing HJV tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006537 biolink:NamedThing female reproductive gland secretion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005398 biolink:NamedThing female reproductive gland tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25799 biolink:NamedThing GUF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011519 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 23 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant type 23|autosomal dominant deafness 23|SIX1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 23|autosomal dominant nonsyndromic deafness caused by mutation in SIX1|DFNA 23|deafness, autosomal dominant nonsyndromic sensorineural 23|DFNA23|autosomal dominant nonsyndromic deafness 23|autosomal dominant nonsyndromic deafness type 23 GARD:0001708|MESH:C565357|DOID:0110553|ICD10:H90.3|OMIM:605192|UMLS:C1854594 owl:Class GO:1904098 biolink:NamedThing regulation of protein O-linked glycosylation Any process that modulates the frequency, rate or extent of protein O-linked glycosylation. tmpte7i6ely_mondo_relaxed.owl regulation of protein amino acid O-linked glycosylation owl:Class GO:0006493 biolink:NamedThing protein O-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. tmpte7i6ely_mondo_relaxed.owl protein amino acid O-linked glycosylation owl:Class MONDO:0012060 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 35 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene. tmpte7i6ely_mondo_relaxed.owl ESRRB autosomal recessive nonsyndromic deafness|DFNB35|autosomal recessive deafness 35|autosomal recessive nonsyndromic deafness caused by mutation in ESRRB|deafness, autosomal recessive 35|autosomal recessive nonsyndromic deafness 35|deafness, autosomal recessive type 35|autosomal recessive nonsyndromic deafness type 35 OMIM:608565|DOID:0110493|MESH:C563908|ICD10:H90.3|UMLS:C1837857 owl:Class HGNC:3473 biolink:NamedThing ESRRB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010720 biolink:NamedThing hindlimb zeugopod skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12 biolink:NamedThing chromosome 12 (Human) tmpte7i6ely_mondo_relaxed.owl 12 133275309 0 hg38 owl:Class N03ddd94f8eca4cbcba564ebbfa25a2a0 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0005734 biolink:NamedThing tunica adventitia of blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002050 biolink:NamedThing Fraction C' precursor B cell A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive. tmpte7i6ely_mondo_relaxed.owl Fr. C'|Fraction C-prime tmeehan 2010-04-28T02:13:46Z cell owl:Class CL:0002049 biolink:NamedThing Fraction C precursor B cell A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain. tmpte7i6ely_mondo_relaxed.owl Fraction C tmeehan 2010-04-28T02:04:01Z cell owl:Class CHEBI:32773 biolink:NamedThing D-tyrosinate(1-) An optically active form of tyrosinate(1-) having D-configuration. tmpte7i6ely_mondo_relaxed.owl D-tyrosine monoanion|hydrogen D-tyrosinate|(2R)-2-amino-3-(4-hydroxyphenyl)propanoate|D-tyrosinate(1-) owl:Class CHEBI:32774 biolink:NamedThing D-tyrosinate(2-) The D-enantiomer of tyrosinate(2-). tmpte7i6ely_mondo_relaxed.owl D-tyrosine dianion|D-tyrosinate(2-)|D-tyrosinate|(2R)-2-amino-3-(4-oxidophenyl)propanoate owl:Class GO:1902490 biolink:NamedThing regulation of sperm capacitation Any process that modulates the frequency, rate or extent of sperm capacitation. tmpte7i6ely_mondo_relaxed.owl regulation of sperm activation owl:Class UBERON:0011159 biolink:NamedThing primary subdivision of cranial skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007595 biolink:NamedThing lactation The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. tmpte7i6ely_mondo_relaxed.owl milk secretion owl:Class MONDO:0015648 biolink:NamedThing startle epilepsy Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. tmpte7i6ely_mondo_relaxed.owl SCTID:763632004|ICD10:G40.8|Orphanet:166427|UMLS:CN200058 owl:Class GO:2001259 biolink:NamedThing positive regulation of cation channel activity Any process that activates or increases the frequency, rate or extent of cation channel activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of nonselective cation channel activity|positive regulation of cation diffusion facilitator activity owl:Class MONDO:0100165 biolink:NamedThing permanent neonatal diabetes mellitus 1 A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well. tmpte7i6ely_mondo_relaxed.owl PDMI|diabetes mellitus, permanent, of infancy|PNDM1 OMIM:606176 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:8142 biolink:NamedThing OPA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014590 biolink:NamedThing congenital myasthenic syndrome 18 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome type 18|myasthenic syndrome, congenital, 18|SNAP25 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in SNAP25|CMS18|myasthenic syndrome, congenital, type 18|myasthenic syndrome, congenital, 18, with intellectual disability and ataxia Orphanet:590|Orphanet:98914|DOID:0110683|UMLS:C4225364|OMIM:616330 owl:Class HGNC:11132 biolink:NamedThing SNAP25 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006235 biolink:NamedThing foregut-midgut junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001708 biolink:NamedThing jaw skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007470 biolink:NamedThing calvarial doughnut lesions-bone fragility syndrome This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. tmpte7i6ely_mondo_relaxed.owl familial doughnut lesions of skull|doughnut lesions of skull, familial Orphanet:85192|OMIM:126550|MESH:C565089|SCTID:720598005|ICD10:M85.8|UMLS:C1852022 owl:Class CHEBI:16716 biolink:NamedThing benzene A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. tmpte7i6ely_mondo_relaxed.owl Benzol|Benzene|Phene|Coal naphtha|Bicarburet of hydrogen|Pyrobenzole|Benzen|cyclohexatriene|BENZENE|benzene|Pyrobenzol|Mineral naphtha|[6]annulene|Benzine|phenyl hydride|benzole owl:Class MONDO:0013000 biolink:NamedThing porphyria due to ALA dehydratase deficiency Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. tmpte7i6ely_mondo_relaxed.owl porphyria of Doss|porphyria, acute hepatic|porphyria, ALAD|ALAD deficiency|ALAD porphyria|porphyria due to ALAD deficiency|Delta-aminolevulinate dehydratase deficiency|ALA dehydratase deficiency pophyria|acute hepatic porphyria|porphobilinogen synthase deficiency|Lead poisoning, susceptibility to|Doss porphyria|5-aminolevulinic acid dehydratase deficiency porphyria|aminolevulinate dehydratase deficiency porphyria|porphyria due to delta-aminolevulinate dehydratase deficiency|porphyria due to ALA dehydratase deficiency NCIT:C133887|OMIM:612740|Orphanet:100924|MESH:C562618|GARD:0004445|ICD10:E80.2 https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria owl:Class HGNC:395 biolink:NamedThing ALAD tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001183 biolink:NamedThing inferior mesenteric artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010104 biolink:NamedThing non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. tmpte7i6ely_mondo_relaxed.owl teeth noneruption of with maxillary hypoplasia and genu valgum|multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|teeth, noneruption of, with maxillary hypoplasia and genu valgum|non erupted teeth with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome|Stoelinga de Koomen Davis syndrome|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects OMIM:273050|SCTID:723442008|UMLS:C1848903|GARD:0005127|Orphanet:2972|GARD:0005027 owl:Class MONDO:0003180 biolink:NamedThing cutaneous adenocystic carcinoma A adenoid cystic carcinoma that involves the skin of body. tmpte7i6ely_mondo_relaxed.owl primary cutaneous adenocystic carcinoma|skin of body adenoid cystic carcinoma|adenoid cystic carcinoma of skin|adenoid cystic cutaneous carcinoma|adenoid cystic eccrine carcinoma of skin|adenoid cystic eccrine carcinoma (morphologic abnormality)|adenoid cystic eccrine carcinoma|adenoid cystic carcinoma of the skin|adenoid cystic skin carcinoma DOID:4871|NCIT:C4471|UMLS:C0346017|SCTID:254711000 owl:Class UBERON:0002097 biolink:NamedThing skin of body tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001905 biolink:NamedThing pineal body tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:39745 biolink:NamedThing dihydrogenphosphate A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated. tmpte7i6ely_mondo_relaxed.owl DIHYDROGENPHOSPHATE ION|dihydroxidodioxidophosphate(1-)|dihydrogenphosphate|dihydrogentetraoxophosphate(1-)|dihydrogentetraoxophosphate(V)|H2PO4(-)|dihydrogen(tetraoxidophosphate)(1-)|[PO2(OH)2](-) owl:Class CHEBI:26078 biolink:NamedThing phosphoric acid A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom. tmpte7i6ely_mondo_relaxed.owl Orthophosphoric acid|phosphoric acid|Phosphoric acid|tetraoxophosphoric acid|Phosphorsaeureloesungen|acidum phosphoricum|orthophosphoric acid|Phosphate|H3PO4|[PO(OH)3]|trihydroxidooxidophosphorus|Phosphorsaeure|trihydrogen tetraoxophosphate(3-)|acide phosphorique owl:Class MONDO:0005714 biolink:NamedThing congenital syphilis A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. tmpte7i6ely_mondo_relaxed.owl congenital syphilis|MTCT of syphilis|mother-to-child transmission of syphilis ICD9:090|ICD9:090.9|MESH:D013590|DOID:9856|SCTID:35742006|ICD10:A50|NCIT:C84649|UMLS:C0039131|Orphanet:499009|EFO:0007219|ICD10:A50.9 owl:Class MONDO:0011549 biolink:NamedThing hypotrichosis 1 Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene. tmpte7i6ely_mondo_relaxed.owl hypotrichosis 1|HTS|hypotrichosis simplex, generalized, hereditary|HHS|APCDD1 hypotrichosis|HYPT1|hypotrichosis caused by mutation in APCDD1|hereditary generalized hypotrichosis simplex|hypotrichosis type 1 Orphanet:55654|OMIM:605389|UMLS:C1854310|DOID:0110698 owl:Class HGNC:15718 biolink:NamedThing APCDD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003918 biolink:NamedThing kidney mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014621 biolink:NamedThing Brugada syndrome 9 Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene. tmpte7i6ely_mondo_relaxed.owl Brugada syndrome type 9|Brugada syndrome 9|Brugada syndrome caused by mutation in KCND3|KCND3 Brugada syndrome|BRGDA9 OMIM:616399|DOID:0110226|ICD10:I49.8|UMLS:C4225340|Orphanet:130 owl:Class HGNC:6239 biolink:NamedThing KCND3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003934 biolink:NamedThing breast apocrine carcinoma An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles. tmpte7i6ely_mondo_relaxed.owl apocrine adenocarcinoma of breast|breast apocrine adenocarcinoma|apocrine carcinoma of breast|apocrine carcinoma of the breast|breast apocrine carcinoma|apocrine breast carcinoma UMLS:C1332316|NCIT:C5141|DOID:6581 owl:Class MONDO:0021573 biolink:NamedThing oocyte maturation defect 2 Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. tmpte7i6ely_mondo_relaxed.owl inherited oocyte maturation defect caused by mutation in TUBB8|OOMD2|TUBB8 inherited oocyte maturation defect|oocyte maturation defect 2 UMLS:C4225210|OMIM:616780 owl:Class HGNC:20773 biolink:NamedThing TUBB8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003646 biolink:NamedThing rectum neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl rectal NET|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor, well differentiated, low or intermediate grade|rectum neuroendocrine tumor|neuroendocrine neoplasm of the rectum|rectum NET|neuroendocrine tumor of rectum|neuroendocrine neoplasm of rectum|rectal neuroendocrine neoplasm|NET of the rectum UMLS:C1335686|NCIT:C5698|DOID:5777|Orphanet:100081 owl:Class OBO:CHR_9606-chr2p21 biolink:NamedThing 2p21 (Human) tmpte7i6ely_mondo_relaxed.owl 47500000 41500000 hg38 owl:Class OBO:CHR_9606-chr2p2 biolink:NamedThing 2p2 (Human) tmpte7i6ely_mondo_relaxed.owl 47500000 0 hg38 owl:Class HsapDv:0000099 biolink:NamedThing 5-year-old human stage Child stage that refers to a child who is over 5 and under 6 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000098 biolink:NamedThing 4-year-old human stage Child stage that refers to a child who is over 4 and under 5 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022022 biolink:NamedThing bowenoid papulosis Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported. tmpte7i6ely_mondo_relaxed.owl Bowenoid papulosis|BP|bowenoid papulosis ICD9:447.8|SCTID:402913004|GARD:0005951|UMLS:C0334106|NCIT:C8374 https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis owl:Class MONDO:0005161 biolink:NamedThing human papilloma virus infection An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. tmpte7i6ely_mondo_relaxed.owl Human papillomavirus infectious disease|Human papillomavirus caused disease or disorder|Human papillomavirus disease or disorder|Human papilloma Virus infection|Human Papillomavirus infection ICD9:079.4|NCIT:C27851|SCTID:240532009|EFO:0001668|UMLS:C0343641 owl:Class UBERON:0002128 biolink:NamedThing superior olivary complex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9086 biolink:NamedThing PLP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008947 biolink:NamedThing respiratory primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021643 biolink:NamedThing mesenteric varices A varicose disease that involves the mesentery. tmpte7i6ely_mondo_relaxed.owl mesentery varicose disease|varicose disease of mesentery HP:0002626|SCTID:22949006 owl:Class MONDO:0008757 biolink:NamedThing alopecia universalis congenita The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. tmpte7i6ely_mondo_relaxed.owl alopecia universalis congenita|AU|ALUNC|alopecia areata universalis|alopecia universalis|atrichia, generalized OMIM:104000|GARD:0000614|OMIM:203655|SCTID:86166000|MESH:C537055|ICD9:704.09|ICD10:L63.1|OMIM:610753|Orphanet:701|UMLS:C0263505|MedDRA:10001767|DOID:0050634 owl:Class HGNC:5172 biolink:NamedThing HR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006343 biolink:NamedThing ovarian transitional cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present. tmpte7i6ely_mondo_relaxed.owl ovarian transitional cell cancer|transitional cell carcinoma of ovary|malignant ovarian transitional cell neoplasm|transitional cell carcinoma of the ovary|ovarian transitional cell carcinoma|ovarian transitional cell neoplasm|ovary transitional cell carcinoma DOID:4000|EFO:1000435|NCIT:C5240|UMLS:C1335184 owl:Class GO:1903317 biolink:NamedThing regulation of protein maturation Any process that modulates the frequency, rate or extent of protein maturation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005904 biolink:NamedThing pericarditis An inflammatory process affecting the pericardium. tmpte7i6ely_mondo_relaxed.owl pericarditis (disease)|pericardium inflammation|pericarditis|inflammation of pericardium pericarditis (disease) NCIT:C34915|DOID:1787|Orphanet:58208|UMLS:C0031046|HP:0001701|MESH:D010493|SCTID:3238004|EFO:0007427 owl:Class UBERON:0002407 biolink:NamedThing pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014084 biolink:NamedThing ataxia with oculomotor apraxia type 3 tmpte7i6ely_mondo_relaxed.owl ataxia-oculomotor apraxia type 3|AOA3|ataxia-oculomotor apraxia-3|ataxia-oculomotor apraxia 3 UMLS:C3554690|DOID:0060557|OMIM:615217|GARD:0013112 owl:Class HGNC:30035 biolink:NamedThing PIK3R5 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000131 biolink:NamedThing 37-year-old human stage Adult stage that refers to an adult who is over 37 and under 38. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000090 biolink:NamedThing 25-44 year-old human stage Early adulthood that refers to an adult who is over 25 and under 45. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003672 biolink:NamedThing dentition tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr6pter-p24 biolink:NamedThing 6pter-p24 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class GO:0033143 biolink:NamedThing regulation of intracellular steroid hormone receptor signaling pathway Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl regulation of steroid hormone receptor signaling pathway|regulation of steroid hormone receptor signalling pathway owl:Class GO:0030518 biolink:NamedThing intracellular steroid hormone receptor signaling pathway A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands. tmpte7i6ely_mondo_relaxed.owl steroid hormone receptor signaling pathway|steroid hormone receptor signalling pathway owl:Class MONDO:0012855 biolink:NamedThing Joubert syndrome 8 Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome caused by mutation in ARL13B|Joubert syndrome type 8|JBTS8|ARL13B Joubert syndrome|Joubert syndrome 8 UMLS:C2676771|OMIM:612291|MESH:C567358|Orphanet:475|DOID:0111003 owl:Class HGNC:25419 biolink:NamedThing ARL13B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009972 biolink:NamedThing ureteropelvic junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018642 biolink:NamedThing NIK deficiency A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14). tmpte7i6ely_mondo_relaxed.owl primary immunodeficiency with multifaceted aberrant lymphoid immunity|MAP3K14 non-severe combined immunodeficiency|non-severe combined immunodeficiency caused by mutation in MAP3K14 Orphanet:447731|ICD10:D81.8 owl:Class UBERON:0036553 biolink:NamedThing wall of synovial tendon sheath tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000304 biolink:NamedThing tendon sheath tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001794 biolink:NamedThing Pthirus pubis infestation Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects. tmpte7i6ely_mondo_relaxed.owl Pthirus pubis infection|Phthirus pubis [pubic louse]|infestation by Phthirus pubis|Phthirus pubis|Pediculus pubis|crabs|Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|pediculosis pubis|phthiriasis pubis|phthiriasis|infections, Pthirus pubis|Phthirus/pediculus pubis - pubic lice - crabs UMLS:C0030759|ICD9:132.2|DOID:13760|ICD10:B85.3|SCTID:71011005|NCIT:C35777 owl:Class HGNC:16391 biolink:NamedThing CARD9 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001031 biolink:NamedThing cerebellar granule cell Granule cell that is part of the cerebellum. tmpte7i6ely_mondo_relaxed.owl BTO:0004278 cell owl:Class UBERON:0004439 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004323 biolink:NamedThing middle phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036337 biolink:NamedThing wall of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001169 biolink:NamedThing wall of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10432 biolink:NamedThing RPS6KA3 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20p12.3 biolink:NamedThing 20p12.3 (Human) tmpte7i6ely_mondo_relaxed.owl 9200000 5100000 hg38 owl:Class MONDO:0024497 biolink:NamedThing tumor grade 3 or 4, general grading system Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. tmpte7i6ely_mondo_relaxed.owl high grade|grade 3/4 NCIT:C14158 owl:Class ENVO:01001088 biolink:NamedThing aerosolised liquids An aerosol which has non-gaseous parts that are primarily composed of liquid droplets. tmpte7i6ely_mondo_relaxed.owl liquid aerosol owl:Class N555d55debc674b5194b557738caef388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:10809 biolink:NamedThing SGCG tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3522 biolink:NamedThing EYA4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014540 biolink:NamedThing amelogenesis imperfecta type 1H Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, type 1H|AI1H|amelogenesis imperfecta, type IH|ITGB6 amelogenesis imperfecta|amelogenesis imperfecta type IH|amelogenesis imperfecta caused by mutation in ITGB6 UMLS:C4015557|Orphanet:88661|Orphanet:100031|OMIM:616221|DOID:0110064|ICD10:K00.5 Not in the OMIM series. owl:Class HGNC:6161 biolink:NamedThing ITGB6 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26666 biolink:NamedThing short-chain fatty acid An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. tmpte7i6ely_mondo_relaxed.owl SCFAs|SCFA|short-chain fatty acids owl:Class UBERON:0004469 biolink:NamedThing musculature of back tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007289 biolink:NamedThing spermatid nucleus differentiation The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization. tmpte7i6ely_mondo_relaxed.owl spermatid nuclear differentiation owl:Class MONDO:0011477 biolink:NamedThing tooth agenesis, selective, 3 Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. tmpte7i6ely_mondo_relaxed.owl PAX9 tooth agenesis|tooth agenesis, selective, 3|tooth agenesis caused by mutation in PAX9|hypodontia/oligodontia 3|STHAG3|tooth agenesis, selective, type 3 UMLS:C1970291|MESH:C567036|OMIM:604625|Orphanet:99798 owl:Class HP:0000613 biolink:NamedThing Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. tmpte7i6ely_mondo_relaxed.owl Light hypersensitivity|Extreme sensitivity of the eyes to light|Photodysphoria MSH:D020795|UMLS:C4020887|SNOMEDCT_US:409668002|UMLS:C0085636|SNOMEDCT_US:246622003 Note that the term photodysphoria is used to describe extreme photophobia. human_phenotype owl:Class MONDO:0014583 biolink:NamedThing congenital myasthenic syndrome 3A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. tmpte7i6ely_mondo_relaxed.owl CMS3A|congenital myasthenic syndrome 3A, slow-channel|myasthenic syndrome, congenital, 3A, slow-channel|congenital myasthenic syndrome type 3A DOID:0110666|UMLS:C4225372|Orphanet:590|OMIM:616321|Orphanet:98913 owl:Class HGNC:1965 biolink:NamedThing CHRND tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700129 biolink:NamedThing mosaic translocation Down syndrome Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0009213 biolink:NamedThing pharyngeal membrane of 1st arch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005872 biolink:NamedThing 1st arch pharyngeal cleft tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016862 biolink:NamedThing Alagille syndrome due to a JAG1 point mutation tmpte7i6ely_mondo_relaxed.owl hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia due to a JAG1 point mutation|Alagille syndrome 1|Alagille-Watson syndrome due to a JAG1 point mutation|Alagille syndrome type 1|syndromic bile duct paucity due to a JAG1 point mutation|Alagille syndrome due to a JAG1 point mutation|ALGS1|Alagille-Watson syndrome|cholestasis with peripheral pulmonary stenosis|arteriohepatic dysplasia Orphanet:261619|UMLS:CN202206|ICD10:Q44.7|OMIM:118450|UMLS:C1956125 owl:Class MONDO:0011489 biolink:NamedThing hereditary spastic paraplegia 12 Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. tmpte7i6ely_mondo_relaxed.owl RTN2 hereditary spastic paraplegia|spastic paraplegia 12|autosomal dominant spastic paraplegia type 12|hereditary spastic paraplegia type 12|hereditary spastic paraplegia caused by mutation in RTN2|SPG12|autosomal dominant spastic paraplegia 12|spastic paraplegia 12, autosomal dominant OMIM:604805|GARD:0009586|MESH:C537484|DOID:0110765|ICD10:G11.4|Orphanet:100993|UMLS:C1858106|SCTID:763374004 owl:Class HGNC:10468 biolink:NamedThing RTN2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014053 biolink:NamedThing negative regulation of gamma-aminobutyric acid secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpte7i6ely_mondo_relaxed.owl downregulation of gamma-aminobutyric acid secretion|down-regulation of gamma-aminobutyric acid secretion|inhibition of gamma-aminobutyric acid secretion|down regulation of gamma-aminobutyric acid secretion|negative regulation of GABA secretion owl:Class GO:0014051 biolink:NamedThing gamma-aminobutyric acid secretion The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues. tmpte7i6ely_mondo_relaxed.owl GABA secretion owl:Class OBO:CHR_9606-chr13q12 biolink:NamedThing 13q12 (Human) tmpte7i6ely_mondo_relaxed.owl 31600000 18900000 hg38 owl:Class UBERON:0003695 biolink:NamedThing metacarpophalangeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002234 biolink:NamedThing proximal phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020779 biolink:NamedThing cartilage development disorder Any dysfunction in the growth of cartilage. tmpte7i6ely_mondo_relaxed.owl Congenital anomaly of cartilage|abnormal development of cartilage|cartilage development disorder|chondrodystrophy ICD9:756.4|UMLS:C0008449|NCIT:C34466|SCTID:67988000|ICD9:756.9 owl:Class UBERON:0001820 biolink:NamedThing sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005089 biolink:NamedThing sweat gland placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012238 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene. tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal dominant 2|SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2|PEOA2 UMLS:C1836460|Orphanet:254892|OMIM:609283|MESH:C563750|DOID:0111517 owl:Class GO:0070295 biolink:NamedThing renal water absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. tmpte7i6ely_mondo_relaxed.owl nephron water absorption|renal water reabsorption owl:Class MONDO:0013379 biolink:NamedThing Noonan syndrome 7 Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. tmpte7i6ely_mondo_relaxed.owl BRAF Noonan syndrome|Noonan syndrome 7|Noonan syndrome caused by mutation in BRAF|NS7|Noonan syndrome type 7 UMLS:C3150970|OMIM:613706|DOID:0060585|Orphanet:648 owl:Class GO:1900077 biolink:NamedThing negative regulation of cellular response to insulin stimulus Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus. tmpte7i6ely_mondo_relaxed.owl down regulation of cellular response to insulin stimulus|downregulation of cellular response to insulin stimulus|down-regulation of cellular response to insulin stimulus|inhibition of cellular response to insulin stimulus owl:Class CL:1000327 biolink:NamedThing appendix goblet cell A goblet cell that is part of the epithelium proper of appendix. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium proper of appendix FMA:263069 cell owl:Class MONDO:0011676 biolink:NamedThing PHACE syndrome PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. tmpte7i6ely_mondo_relaxed.owl Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities|pascual-Castroviejo syndrome type 2|pascual-Castroviejo type II syndrome|aortic aneurysm, giant congenital|PHACE association|Phaces association|P-CIIS ICD10:Q28.8|OMIM:606519|UMLS:C1847874|Orphanet:42775|GARD:0008338|MedDRA:10068032 owl:Class UBERON:0005625 biolink:NamedThing tubotympanic recess lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010065 biolink:NamedThing auditory meatus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031965 biolink:NamedThing nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009406 biolink:NamedThing hypertrichotic osteochondrodysplasia Cantu type Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. tmpte7i6ely_mondo_relaxed.owl Craniofaciocardioskeletal syndrome|hypertrichotic osteochondrodysplasia|Cantu syndrome|hypertrichotic osteochondrodysplasia, Cantu type DOID:0060569|SCTID:239087008|GARD:0008585|ICD10:Q87.3|Orphanet:1517|OMIM:239850|UMLS:C0795905|MESH:C535572 https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome owl:Class PATO:0015025 biolink:NamedThing decreased porosity An decrease in porosity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0031012 biolink:NamedThing autoimmune uveitis An autoimmune form of uveitis (disease). tmpte7i6ely_mondo_relaxed.owl autoimmune uveitis (disease) DOID:0040088 owl:Class HP:0002960 biolink:NamedThing Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues. tmpte7i6ely_mondo_relaxed.owl Autoimmune disorder|Autoimmune disease|Autoimmunity|Autoimmune condition SNOMEDCT_US:85828009|UMLS:C0004364|MSH:D001327 human_phenotype owl:Class MONDO:0012861 biolink:NamedThing premature ovarian failure 6 Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene. tmpte7i6ely_mondo_relaxed.owl Pof6|FIGLA primary ovarian failure|premature ovarian failure type 6|premature ovarian failure 6|primary ovarian failure caused by mutation in FIGLA MESH:C567351|UMLS:C2676742|OMIM:612310 owl:Class HGNC:24669 biolink:NamedThing FIGLA tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004367 biolink:NamedThing Descemet's membrane tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001903 biolink:NamedThing Anemia A reduction in erythrocytes volume or hemoglobin concentration. tmpte7i6ely_mondo_relaxed.owl Anaemia|Low number of red blood cells or haemoglobin|Decreased haemoglobin|Decreased hemoglobin|Low number of red blood cells or hemoglobin SNOMEDCT_US:271737000|UMLS:C0162119|MSH:D000740|SNOMEDCT_US:165397008|UMLS:C0002871 Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. HP:0001926|HP:0003136|HP:0005509 human_phenotype owl:Class CL:0000011 biolink:NamedThing migratory trunk neural crest cell Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0051798 biolink:NamedThing positive regulation of hair follicle development Any process that activates or increases the frequency, rate or extent of hair follicle development. tmpte7i6ely_mondo_relaxed.owl upregulation of hair follicle development|activation of hair follicle development|stimulation of hair follicle development|up-regulation of hair follicle development|up regulation of hair follicle development owl:Class GO:0001942 biolink:NamedThing hair follicle development The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0055103 biolink:NamedThing ligase regulator activity Binds to and modulates the activity of a ligase. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016874 biolink:NamedThing ligase activity Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient. tmpte7i6ely_mondo_relaxed.owl synthetase activity owl:Class MONDO:0010645 biolink:NamedThing oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. tmpte7i6ely_mondo_relaxed.owl oculo-cerebro-renal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|OCRL|Lowe oculo-cerebro-renal syndrome|oculocerebrorenal dystrophy|Lowe oculocerebrorenal syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|oculocerebrorenal syndrome|oculo-cerebro-renal syndrome|Lowe disease|OCR|Lowe syndrome|oculocerebrorenal syndrome of Lowe|Ocrl1 MESH:D009800|ICD10:E72.0|MedDRA:10051707|ICD9:270.8|Orphanet:534|NCIT:C84940|ICD10:E72.03|UMLS:C0028860|OMIM:309000|DOID:1056|SCTID:79385002|GARD:0003295 owl:Class HGNC:8108 biolink:NamedThing OCRL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014470 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 65 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|TBC1D24 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 65|autosomal dominant deafness 65|autosomal dominant nonsyndromic deafness type 65|deafness, autosomal dominant type 65|autosomal dominant nonsyndromic deafness 65|DFNA65 DOID:0110586|ICD10:H90.3|UMLS:C3892048|OMIM:616044 owl:Class HGNC:29203 biolink:NamedThing TBC1D24 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009575 biolink:NamedThing thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. tmpte7i6ely_mondo_relaxed.owl thiamine metabolism dysfunction syndrome 1|thiamine-responsive myelodysplasia|TRMA|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine-responsive anemia syndrome|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|thiamine-responsive megaloblastic anemia syndrome|Rogers syndrome|thiamine responsive megaloblastic anemia syndrome|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|thiamine-responsive Anemia syndrome|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)|megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|THMD1 GARD:9210|DOID:0090117|MESH:C536510|Orphanet:49827|GARD:0009210|SCTID:237617006|OMIM:249270|ICD10:Q21.0 https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome owl:Class MONDO:0023693 biolink:NamedThing maple syrup urine disease type 2 A maple syrup urine disease caused by mutations in DBT. tmpte7i6ely_mondo_relaxed.owl MSUD type 2|MSUD2|maple syrup urine disease type 2 HGNC:2698|GARD:0008596 https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2 owl:Class HGNC:2698 biolink:NamedThing DBT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034736 biolink:NamedThing coracoclavicular ligament tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011013 biolink:NamedThing autosomal dominant hypocalcemia 1 Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant hypocalcemia type 1|hypocalcemia, familial|hypercalciuric hypocalcemia|hypocalcemia, autosomal dominant 1|HYPOC1|hypocalcemia, autosomal dominant 1, with Bartter syndrome|CASR autosomal dominant hypocalcemia|autosomal dominant hypocalcemia caused by mutation in CASR|hypocalcemia, autosomal dominant type 1 Orphanet:428|Orphanet:112|OMIM:601198|Orphanet:2238|Orphanet:263417|DOID:0090107 owl:Class HGNC:1514 biolink:NamedThing CASR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005985 biolink:NamedThing Togaviridae infectious disease Virus diseases caused by the togaviridae. tmpte7i6ely_mondo_relaxed.owl Togaviridae caused disease or disorder|Togaviridae disease or disorder EFO:0007513|GARD:0007776|UMLS:C0040361|MESH:D014036 owl:Class NCBITaxon:11018 biolink:NamedThing Togaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001716 biolink:NamedThing secondary palate tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:32524 biolink:NamedThing Amniota tmpte7i6ely_mondo_relaxed.owl amniotes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013114 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 50 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 50|deafness, autosomal dominant 50|autosomal dominant nonsyndromic deafness 50|deafness, autosomal dominant type 50|DFNA50|autosomal dominant deafness 50 ICD10:H90.3|DOID:0110576|OMIM:613074 owl:Class HGNC:31648 biolink:NamedThing MIR96 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006856 biolink:NamedThing mesothelial neoplasm A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003 tmpte7i6ely_mondo_relaxed.owl mesothelial neoplasm|mesothelial tumor EFO:1001044|UMLS:C3714739|NCIT:C3786|MESH:D018301 owl:Class CL:0000222 biolink:NamedThing mesodermal cell A cell of the middle germ layer of the embryo. tmpte7i6ely_mondo_relaxed.owl mesoblast|mesoderm cell FMA:72554 cell owl:Class MONDO:0003660 biolink:NamedThing adult lymphoma A lymphoma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl lymphoma of adults|adult lymphoma|lymphoma DOID:5825|UMLS:C1332206|NCIT:C7587 owl:Class MONDO:0007402 biolink:NamedThing creatine phosphokinase, elevated serum tmpte7i6ely_mondo_relaxed.owl hyperCKemia, idiopathic|CPK, elevated serum|creatine phosphokinase, elevated serum OMIM:123320 owl:Class HGNC:1529 biolink:NamedThing CAV3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010568 biolink:NamedThing Aicardi syndrome Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. tmpte7i6ely_mondo_relaxed.owl AIC|agenesis of corpus callosum with chorioretinal abnormality|corpus callosum, agenesis of, with chorioretinal Abnormality|Aicardi syndrome|corpus callosum agenesis of with chorioretinal abnormality MedDRA:10054935|UMLS:C0175713|DOID:8461|OMIM:304050|NCIT:C35256|MESH:D058540|GARD:0005764|SCTID:80651009|Orphanet:50|ICD10:Q04.0 https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome owl:Class HP:0007858 biolink:NamedThing Chorioretinal lacunae Punched out lesions in the pigmented layer of the retina. tmpte7i6ely_mondo_relaxed.owl Lacunar retinal depigmentation UMLS:C4072866|UMLS:C1844751 A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. HP:0007786 human_phenotype owl:Class UBERON:0036150 biolink:NamedThing skin appendage follicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010347 biolink:NamedThing 6th arch mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001721 biolink:NamedThing urethral intrinsic sphincter deficiency tmpte7i6ely_mondo_relaxed.owl intrinsic (urethral) sphincter deficiency [ISD] DOID:13461|ICD10:N36.42|ICD9:599.82|UMLS:C0375381 owl:Class UBERON:0004917 biolink:NamedThing urethral sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008015 biolink:NamedThing blood circulation The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. tmpte7i6ely_mondo_relaxed.owl hemolymph circulation owl:Class UBERON:0003126 biolink:NamedThing trachea tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009115 biolink:NamedThing thoracic thymus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009674 biolink:NamedThing accessory XI nerve spinal component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009193 biolink:NamedThing sphenoid cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002871 biolink:NamedThing hypoglossal nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007019 biolink:NamedThing vulvovaginitis An inflammatory pathologic process that affects the vulva and the vagina. tmpte7i6ely_mondo_relaxed.owl Vulvo-vaginitis ICD10:N76.0|SCTID:53277000|UMLS:C0042998|MESH:D014848|MedDRA:10047794|EFO:1001240|NCIT:C35131|DOID:2273 owl:Class MONDO:0018184 biolink:NamedThing gastric linitis plastica Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl Borrmann gastric cancer type 4|linitis plastica of the stomach UMLS:CN204677|SCTID:721629005|Orphanet:36273|ICD10:C16.9 owl:Class MONDO:0003532 biolink:NamedThing breast papillary carcinoma A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells. tmpte7i6ely_mondo_relaxed.owl papillary breast carcinoma|papillary carcinoma of breast|papillary carcinoma of the breast|breast papillary carcinoma|Papillary breast cancer|breast solid papillary carcinoma|solid papillary carcinoma of the breast NCIT:C9134|DOID:5592|UMLS:C3812899|UMLS:C1336027 owl:Class MONDO:0012966 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 4 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene. tmpte7i6ely_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, 4|nephropathy, diabetic, susceptibility to|IL1RN microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 4|MVCD4|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN OMIM:612628 owl:Class HGNC:6000 biolink:NamedThing IL1RN tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33767 biolink:NamedThing cobalt group molecular entity tmpte7i6ely_mondo_relaxed.owl cobalt group molecular entity|cobalt group molecular entities owl:Class UBERON:0004914 biolink:NamedThing duodenal papilla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011927 biolink:NamedThing preganglionic sympathetic fiber tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034729 biolink:NamedThing sympathetic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051039 biolink:NamedThing positive regulation of transcription involved in meiotic cell cycle Any process that activates or increases the frequency, rate or extent of transcription as part of a meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl activation of transcription during meiosis|stimulation of transcription during meiosis|up regulation of transcription during meiosis|positive regulation of meiotic transcription|up-regulation of transcription during meiosis|positive regulation of transcription, meiotic|upregulation of transcription during meiosis owl:Class MONDO:0007507 biolink:NamedThing absence of fingerprints-congenital milia syndrome Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|Baird syndrome|absence of dermatoglyphics congenital milia|absence of dermatoglyphics-congenital milia syndrome|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities|absence of fingerprints congenital milia|Basan syndrome SCTID:239011004|ICD10:Q82.8|MESH:C537659|OMIM:129200|Orphanet:1658|GARD:0002336 https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia owl:Class HGNC:18398 biolink:NamedThing SMARCAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003500 biolink:NamedThing corneal blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003466 biolink:NamedThing spindle cell synovial sarcoma A synovial sarcoma characterized by the presence of a spindle cell component only. tmpte7i6ely_mondo_relaxed.owl synovial sarcoma with spindle cell components|synovial sarcoma, monophasic fibrous ICDO:9041/3|UMLS:C0334505|NCIT:C4277|DOID:5487 owl:Class UBERON:0001440 biolink:NamedThing forelimb skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002029 biolink:NamedThing epithelium of gall bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5001463 biolink:NamedThing manual digit 1 plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014617 biolink:NamedThing intellectual disability, autosomal dominant 38 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 38|autosomal dominant mental retardation 38|PRELDS|EEF1A2 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 38|autosomal dominant intellectual disability 38|intellectual disability, autosomal dominant 38|psychomotor retardation, epilepsy, and language disability syndrome|MRD38|mental retardation, autosomal dominant type 38|autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2|intellectual disability, autosomal dominant type 38 OMIM:616393|DOID:0070068|UMLS:C4225343 owl:Class HGNC:3192 biolink:NamedThing EEF1A2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034708 biolink:NamedThing cerebellum marginal layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015129 biolink:NamedThing epicardial fat tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002425 biolink:NamedThing visceral serous pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007378 biolink:NamedThing posterior polymorphous corneal dystrophy 1 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. tmpte7i6ely_mondo_relaxed.owl Ppcd1|corneal endothelial dystrophy 1, autosomal dominant, formerly|corneal dystrophy, posterior polymorphous, type 1|corneal dystrophy, hereditary polymorphous posterior|Maumenee corneal dystrophy|corneal dystrophy, POSTERIOR polymorphous, 1|Ched1|PPCD1|corneal endothelial dystrophy 1, autosomal dominant|posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy type 1 ICD10:H18.50|UMLS:CN029625|SCTID:29504002|OMIM:122000|DOID:0110855|Orphanet:98973|ICD9:371.58 https://github.com/monarch-initiative/mondo/issues/1368 owl:Class HGNC:15804 biolink:NamedThing OVOL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012604 biolink:NamedThing isolated microphthalmia 3 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. tmpte7i6ely_mondo_relaxed.owl isolated microphthalmia caused by mutation in RAX|microphthalmia, isolated type 3|RAX isolated microphthalmia|isolated microphthalmia 3|isolated microphthalmia type 3|isolated microphthalmia caused by mutation in rax|rax isolated microphthalmia|MCOP3|microphthalmia, isolated 3 ICD10:Q11.0|DOID:0060842|OMIM:611038|Orphanet:2542|UMLS:C1970237|MESH:C567025 owl:Class HGNC:28526 biolink:NamedThing EOGT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035549 biolink:NamedThing vasculature of integument tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000409 biolink:NamedThing serous gland tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000313 biolink:NamedThing serous secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. tmpte7i6ely_mondo_relaxed.owl serous cell FMA:62511|BTO:0003687 cell owl:Class MONDO:0024673 biolink:NamedThing skin lymphangioma A lymphangioma arising from the skin. tmpte7i6ely_mondo_relaxed.owl cutaneous lymphangioma|skin lymphangioma NCIT:C27509|UMLS:C1333176 owl:Class UBERON:0004427 biolink:NamedThing proximal epiphysis of first metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005526 biolink:NamedThing tetanus A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. tmpte7i6ely_mondo_relaxed.owl infection due to Clostridium tetani|Clostridium tetani infectious disease of the nervous system|lockjaw|Clostridium tetani caused infectious disease of the nervous system|clostridial tetanus NCIT:C85185|GARD:0005144|ICD9:037|UMLS:C0039614|DOID:11338|EFO:0005593|SCTID:76902006|MESH:D013742|Orphanet:3299|MedDRA:10043376|ICD10:A35|SCTID:276202003|ICD10:A34|ICD10:A33 We treat tetanus and infection due to Clostridium tetani as synonymous https://rarediseases.info.nih.gov/diseases/5144/tetanus owl:Class NCBITaxon:1513 biolink:NamedThing Clostridium tetani tmpte7i6ely_mondo_relaxed.owl Bacillus tetani GC_ID:11 ncbi_taxonomy owl:Class PATO:0001795 biolink:NamedThing increased coiling A coiling which is relatively high. tmpte7i6ely_mondo_relaxed.owl high coiling owl:Class MONDO:0000193 biolink:NamedThing cortisone reductase deficiency A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility. tmpte7i6ely_mondo_relaxed.owl hyperandrogenism due to cortisone reductase deficiency|11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of|deficiency of (R)-20-hydroxysteroid dehydrogenase|deficiency of cortisone reductase|CORTRD|HSD 11B1 deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 1 OMIM:604931|MESH:C536447|OMIM:614662|DOID:0090139|ICD10:E25.8|OMIMPS:604931|ICD9:277.6|SCTID:124138004|UMLS:CN200166|GARD:0009882|Orphanet:168588 https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency owl:Class GO:0003845 biolink:NamedThing 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). tmpte7i6ely_mondo_relaxed.owl dehydrogenase, 11beta-hydroxy steroid|11beta-hydroxysteroid dehydrogenase|beta-hydroxysteroid dehydrogenase|corticosteroid 11beta-dehydrogenase|corticosteroid 11-reductase|11beta-hydroxy steroid dehydrogenase owl:Class HGNC:11474 biolink:NamedThing SURF1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006875 biolink:NamedThing embryonic handplate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002870 biolink:NamedThing tricuspid valve insufficiency The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. tmpte7i6ely_mondo_relaxed.owl insufficiency, tricuspid|tricuspid incompetence|tricuspid insufficiency|tricuspid valve regurgitation|tricuspid regurgitation UMLS:C0040961|NCIT:C50842|SCTID:111287006|MESH:D014262|DOID:4080 owl:Class UBERON:0035096 biolink:NamedThing fascia of tail tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007812 biolink:NamedThing post-anal tail tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016372 biolink:NamedThing glossopharyngeal neuralgia Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases. tmpte7i6ely_mondo_relaxed.owl glossopharyngeal neuralgia|glossopharyngeal nerve neuralgia|Glossovasopharyngeal neuralgia|neuralgia of glossopharyngeal nerve DOID:14423|MedDRA:10018391|ICD9:352.1|GARD:0006519|Orphanet:221098|ICD10:G52.1|UMLS:C0154731|SCTID:43763009 https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia owl:Class UBERON:0001649 biolink:NamedThing glossopharyngeal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060136 biolink:NamedThing embryonic process involved in female pregnancy A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001773 biolink:NamedThing sclera tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002201 biolink:NamedThing vasculature of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007541 biolink:NamedThing endometriosis, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl ENDO1|endometriosis, susceptibility to, type 1|endometriosis, susceptibility to, 1 OMIM:131200 owl:Class ENVO:01001211 biolink:NamedThing stellar radiation An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star. tmpte7i6ely_mondo_relaxed.owl solar radiation owl:Class ENVO:01000801 biolink:NamedThing star An astronomical object which is composed primarily of luminous plasma held in a spherical form by gravitational forces. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013653 biolink:NamedThing Parkinson disease 18, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene. tmpte7i6ely_mondo_relaxed.owl PARK18|susceptibility to autosomal dominant Parkinson disease 18|hereditary late onset Parkinson disease caused by mutation in EIF4G1|EIF4G1 hereditary late onset Parkinson disease|Parkinson disease 18, autosomal dominant, susceptibility to Orphanet:411602|UMLS:C3280271|OMIM:614251 owl:Class MONDO:0009465 biolink:NamedThing multiple intestinal atresia A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. tmpte7i6ely_mondo_relaxed.owl multiple intestinal atresia|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|gastrointestinal defects and immunodeficiency syndrome|intestinal atresia, multiple|GIDID|combined immunodeficiency-enteropathy spectrum|CID-MIA/early-onset IBD|multiple gastrointestinal atresias|familial intestinal polyatresia syndrome|intestinal atresia multiple ICD10:Q82.8|DOID:14671|ICD10:Q43.8|ICD9:751.8|GARD:0003013|Orphanet:2300|MedDRA:10028210|MESH:C562441|SCTID:95472001|OMIM:243150 https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple owl:Class HGNC:9823 biolink:NamedThing RAD51D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015933 biolink:NamedThing non-syndromic urogenital tract malformation of male A non-syndromic urogenital tract malformation that involves the male organism. tmpte7i6ely_mondo_relaxed.owl isolated urogenital tract malformation of male|nonsyndromic urogenital tract malformation of male|non-syndromic urogenital tract malformation of male organism|male organism non-syndromic urogenital tract malformation Orphanet:182121 owl:Class UBERON:0003101 biolink:NamedThing male organism tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002137 biolink:NamedThing aortic valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023212 biolink:NamedThing Garret-Tripp syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|polydactyly alopecia seborrheic dermatitis|intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Garret Tripp syndrome|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip MESH:C535646|GARD:0002435|UMLS:C2930965 https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome owl:Class MONDO:0007885 biolink:NamedThing Legg-Calve-Perthes disease A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. tmpte7i6ely_mondo_relaxed.owl aseptic necrosis of the capital femoral epiphysis|LCPD|Legg-Calve-Perthes disease|Perthes disease|Lcp|coxa plana|juvenile osteochondrosis of hip and pelvis|pseudocoxalgia|Legg-Calve-Perthes syndrome|osteochondritis of the capital femoral epiphysis|juvenile osteochondrosis of hip and/or pelvis|Perthe's disease|Legg-Calve-Perthes symptom|Legg-Calvé-Perthes disease|juvenile osteochond-hip/pelvis|Legg-Perthes disease|osteochondrosis of Legg-Calve-Perthes|osteochondritis deformans|Pseudocoxalgia|Calve - Perthes' disease|Osteochondrosis of the capital femoral epiphysis|Legg-CALVE-Perthes disease NCIT:C34766|Orphanet:2380|SCTID:15739006|DOID:14415|OMIM:150600|EFO:0007341|ICD10:M91.2|GARD:0006874|MESH:D007873|ICD10:M91.3|UMLS:C0023234|MedDRA:10034735|ICD10:M91.1 https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease|https://github.com/monarch-initiative/mondo/issues/521 owl:Class UBERON:0006635 biolink:NamedThing anterior abdominal wall tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013153 biolink:NamedThing inflammatory bowel disease 28 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene. tmpte7i6ely_mondo_relaxed.owl early onset autosomal recessive inflammatory bowel disease 28|inflammatory bowel disease 28, autosomal recessive|inflammatory bowel disease type 28|inflammatory bowel disease 28|IL10RA inflammatory bowel disease|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease caused by mutation in IL10RA|IBD28 Orphanet:238569|UMLS:C2751053|DOID:0110899|MESH:C567728|OMIM:613148 owl:Class HGNC:5964 biolink:NamedThing IL10RA tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006340 biolink:NamedThing fourth ventricle choroid plexus stroma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002290 biolink:NamedThing choroid plexus of fourth ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007601 biolink:NamedThing visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. tmpte7i6ely_mondo_relaxed.owl sensory visual perception|vision|sense of sight owl:Class UBERON:0002787 biolink:NamedThing decussation of trochlear nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001644 biolink:NamedThing trochlear nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10596 biolink:NamedThing SCN8A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009115 biolink:NamedThing congenital lactase deficiency Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. tmpte7i6ely_mondo_relaxed.owl congenital lactase deficiency|Alactasia, congenital|disaccharide intolerance 2|lactase deficiency, congenital ICD9:271.3|MESH:C562600|GARD:0012311|SCTID:5388008|Orphanet:53690|ICD10:E73.0|DOID:0111646|OMIM:223000 https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency owl:Class MONDO:0010333 biolink:NamedThing corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic 28|Graham-Cox syndrome|corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia|mental retardation, X-linked, syndromic 28|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|MRXS28|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia ICD10:Q87.8|DOID:0060816|OMIM:300472|SCTID:722282008|Orphanet:52055|GARD:0012486|MESH:C564509 owl:Class HGNC:5461 biolink:NamedThing IGBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001907 biolink:NamedThing adult dermatomyositis Dermatomyositis in an adult. tmpte7i6ely_mondo_relaxed.owl dermatomyositis of adults|adult onset dermatomyositis NCIT:C27313|DOID:14202|SCTID:402425006 owl:Class UBERON:0005203 biolink:NamedThing trachea gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002202 biolink:NamedThing submucosa of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012204 biolink:NamedThing familial pseudohyperkalemia An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. tmpte7i6ely_mondo_relaxed.owl PSHK2|pseudohyperkalemia Lille|pseudohyperkalemia East London|pseudohyperkalemia Falkirk|cryohydrocytosis, mild|pseudohyperkalemia Chiswick|pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153|SCTID:717254007|UMLS:C1836705|Orphanet:90044|ICD10:D58.8|MESH:C563785|UMLS:C4273970 owl:Class HGNC:47 biolink:NamedThing ABCB6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001372 biolink:NamedThing bladder neck cancer A malignant neoplasm involving the neck of urinary bladder. tmpte7i6ely_mondo_relaxed.owl malignant neck of urinary bladder neoplasm|neck of urinary bladder cancer|malignant neoplasm of urinary bladder neck|malignant neoplasm of neck of urinary bladder|malignant tumor of bladder neck|cancer of neck of urinary bladder DOID:11809|ICD9:188.5|ICD10:C67.5|SCTID:188244007 owl:Class UBERON:0001258 biolink:NamedThing neck of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018243 biolink:NamedThing thymic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003033 biolink:NamedThing prostate angiosarcoma A malignant vascular neoplasm arising from the prostate. tmpte7i6ely_mondo_relaxed.owl hemangiosarcoma of prostate|prostate angiosarcoma|angiosarcoma of prostate|hemangiosarcoma of the prostate|prostate gland angiosarcoma (disease)|prostatic angiosarcoma|angiosarcoma of the prostate|angiosarcoma (disease) of prostate gland|prostatic hemangiosarcoma|prostate hemangiosarcoma NCIT:C5528|UMLS:C1335504|DOID:4524 owl:Class MONDO:0008495 biolink:NamedThing platelet storage pool deficiency Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. tmpte7i6ely_mondo_relaxed.owl platelet dense granule deficiency|alpha delta granule deficiency|dense body defect|platelet storage pool diseases|alpha dense granule deficiency|storage pool platelet disease|platelet storage pool defect|combined alpha-delta platelet storage pool deficiency EFO:1001112|ICD10:D69.1|OMIM:185050|SCTID:234474009|MESH:D010981|DOID:2223|GARD:0005034|Orphanet:734 https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency owl:Class MONDO:0003960 biolink:NamedThing pulmonary large cell neuroendocrine carcinoma A large cell neuroendocrine carcinoma that involves the lung(s). tmpte7i6ely_mondo_relaxed.owl large cell lung neuroendocrine carcinoma|large cell neuroendocrine carcinoma of the lung|lung large cell neuroendocrine carcinoma|LCNEC of the lung|large cell lung carcinoma with neuroendocrine differentiation|large cell neuroendocrine carcinoma of lung|pulmonary large cell neuroendocrine carcinoma NCIT:C6875|NCIT:C5672|UMLS:C1265996|DOID:6658|UMLS:C1334363 owl:Class UBERON:0002033 biolink:NamedThing arrector muscle of hair tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000096 biolink:NamedThing sulfur amino acid metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. tmpte7i6ely_mondo_relaxed.owl sulfur amino acid metabolism|sulphur amino acid metabolism|sulphur amino acid metabolic process owl:Class UBERON:0036658 biolink:NamedThing wall of central canal of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010771 biolink:NamedThing negative regulation of cell morphogenesis involved in differentiation Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000904 biolink:NamedThing cell morphogenesis involved in differentiation The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014672 biolink:NamedThing osteogenesis imperfecta type 17 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene. tmpte7i6ely_mondo_relaxed.owl SPARC osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in SPARC|osteogenesis imperfecta, type XVII|osteogenesis imperfecta type XVII|OI17|osteogenesis imperfecta, type 17 Orphanet:216820|UMLS:C4225301|DOID:0110338|ICD10:Q78.0|OMIM:616507 owl:Class HGNC:11219 biolink:NamedThing SPARC tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010259 biolink:NamedThing multicellular organism aging An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002792 biolink:NamedThing negative regulation of peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. tmpte7i6ely_mondo_relaxed.owl down regulation of peptide secretion|down-regulation of peptide secretion|downregulation of peptide secretion|inhibition of peptide secretion owl:Class GO:0002790 biolink:NamedThing peptide secretion The controlled release of a peptide from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014862 biolink:NamedThing cerebral palsy, spastic quadriplegic, 3 Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. tmpte7i6ely_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, type 3|spastic quadriplegia caused by mutation in ADD3|ADD3 spastic quadriplegia|cerebral palsy, spastic quadriplegic, 3|CPSQ3|cerebral palsy, spastic quadriplegic, 3; CPSQ3 OMIM:617008|UMLS:C4310767 owl:Class HGNC:245 biolink:NamedThing ADD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014397 biolink:NamedThing combined oxidative phosphorylation defect type 20 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in VARS2|VARS2 combined oxidative phosphorylation deficiency|COXPD20|combined oxidative phosphorylation deficiency type 20|combined oxidative phosphorylation deficiency 20 Orphanet:420728|ICD10:G31.8|OMIM:615917|DOID:0111478|UMLS:C4014660 owl:Class HGNC:21642 biolink:NamedThing VARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000266 biolink:NamedThing pulmonary aspergilloma A aspergillosis that involves the lung. tmpte7i6ely_mondo_relaxed.owl lung aspergillosis MESH:D055732|DOID:0050153|UMLS:C2350529 owl:Class MONDO:0015003 biolink:NamedThing dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities tmpte7i6ely_mondo_relaxed.owl DYTOABG|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG|dystonia 29, childhood-onset UMLS:C4310634|OMIM:617282|Orphanet:508093 owl:Class UBERON:0002506 biolink:NamedThing iris epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001405 biolink:NamedThing anucleate A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001131 biolink:NamedThing vertebral foramen tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3815 biolink:NamedThing FOXI1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26648 biolink:NamedThing BBS12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003924 biolink:NamedThing adrenal cortex adenoma A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpte7i6ely_mondo_relaxed.owl benign adenoma of adrenal gland|benign adrenal gland adenoma|cortical cell adenoma|adenoma of the adrenal gland|adenoma, adrenocortical, benign|adrenal cortical adenoma|benign adenoma of the adrenal gland|adrenal incidentaloma|adenoma of the adrenal cortex|adrenal adenoma|adenoma of adrenal gland|benign adrenal adenoma|adenoma of adrenal cortex|adrenal cortex adenoma|adrenal gland adenoma|adrenocortical adenoma ONCOTREE:ACA|UMLS:C0206667|DOID:0050891|NCIT:C9003|DOID:656|MESH:D018246|GARD:0005745|HP:0008196|ICDO:8370/0|Orphanet:99888|HP:0008256|EFO:0003104|SCTID:302826002 MONDO:0005248 owl:Class CHEBI:17514 biolink:NamedThing cyanide A pseudohalide anion that is the conjugate base of hydrogen cyanide. tmpte7i6ely_mondo_relaxed.owl Zyanid|CN(-)|CN-|Cyanide|cyanide|CYANIDE ION|Prussiate|nitridocarbonate(1-) owl:Class MONDO:0013775 biolink:NamedThing thrombomodulin-related bleeding disorder tmpte7i6ely_mondo_relaxed.owl THBD-related bleeding disorder|thrombomodulin-related coagulopathy|thrombophilia due to thrombomodulin defect|THPH12|THBD-related coagulopathy MESH:C566057|ICD10:D68.3|UMLS:C3280976|OMIM:614486|Orphanet:436169 owl:Class HGNC:11784 biolink:NamedThing THBD tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4q25 biolink:NamedThing 4q25 (Human) tmpte7i6ely_mondo_relaxed.owl 113200000 106700000 hg38 owl:Class OBO:CHR_9606-chr4q2 biolink:NamedThing 4q2 (Human) tmpte7i6ely_mondo_relaxed.owl 138500000 75300000 hg38 owl:Class UBERON:0003693 biolink:NamedThing retroperitoneal space tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:10335 biolink:NamedThing Human alphaherpesvirus 3 tmpte7i6ely_mondo_relaxed.owl varicella zoster virus VZV|Human herpes virus 3|VZV|Varicella Zoster Virus|HHV-3|Varicella-zoster virus|varicella-zoster virus VZV|Human herpesvirus 3 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006636 biolink:NamedThing Actinobacillus infectious disease Infections with bacteria of the genus actinobacillus. tmpte7i6ely_mondo_relaxed.owl infection, Actinobacillus|Actinobacillus disease or disorder|Actinobacillus infection|Actinobacillus caused disease or disorder|infections, Actinobacillus EFO:1000793|MESH:D000189 owl:Class NCBITaxon:713 biolink:NamedThing Actinobacillus tmpte7i6ely_mondo_relaxed.owl PMID:15143001|PMID:1736960|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013859 biolink:NamedThing cataract 38 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive congenital cataract 5|cataract type 38|CATC5|cataract, autosomal recessive congenital 5|AGK early-onset non-syndromic cataract|CTRCT38|early-onset non-syndromic cataract caused by mutation in AGK|cataract 38 DOID:0110245|UMLS:C3553494|Orphanet:91492|ICD10:Q12.0|OMIM:614691 owl:Class MONDO:0019037 biolink:NamedThing progressive supranuclear palsy Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. tmpte7i6ely_mondo_relaxed.owl familial progressive supranuclear palsy (type)|supranuclear palsy, progressive|progressive supranuclear ophthalmoplegia|PSP syndrome|Steele-Richardson-Olszewski syndrome ICD9:333.0|MedDRA:10036813|Orphanet:683|OMIM:609454|MESH:D013494|SCTID:192976002|GARD:0007471|ICD10:G23.1|UMLS:C0038868|NCIT:C85028|DOID:678|OMIM:601104|UMLS:CN205522|OMIM:260540|OMIM:610898 owl:Class UBERON:0010096 biolink:NamedThing future myelencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005290 biolink:NamedThing myelencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014901 biolink:NamedThing tooth agenesis, selective, 8 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene. tmpte7i6ely_mondo_relaxed.owl STHAG8|tooth agenesis, selective, type 8|tooth agenesis, selective, 8; STHAG8|tooth agenesis, selective, 8|tooth agenesis caused by mutation in WNT10B|WNT10B tooth agenesis UMLS:C4310730|OMIM:617073 owl:Class HGNC:12775 biolink:NamedThing WNT10B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014498 biolink:NamedThing familial cold autoinflammatory syndrome 4 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene. tmpte7i6ely_mondo_relaxed.owl familial cold autoinflammatory syndrome type 4|familial cold autoinflammatory syndrome 4|NLRC4-related familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRC4|FCAS4|NLRC4 familial cold autoinflammatory syndrome Orphanet:47045|Orphanet:576349|ICD10:L50.2|UMLS:C4015276|OMIM:616115|DOID:0090065 owl:Class HGNC:16412 biolink:NamedThing NLRC4 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:25512 biolink:NamedThing neurotransmitter An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. tmpte7i6ely_mondo_relaxed.owl neurotransmitters owl:Class HGNC:1353 biolink:NamedThing C8B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043543 biolink:NamedThing iatrogenic disease Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. tmpte7i6ely_mondo_relaxed.owl iatrogenic disorder|hospital acquired condition|disease, iatrogenic|hospital-acquired conditions|iatrogenic diseases|hospital-acquired condition|conditions, hospital-acquired|condition, hospital-acquired|diseases, iatrogenic MESH:D007049|UMLS:C0020732|ICD9:799.9|SCTID:12456005 owl:Class MONDO:0100426 biolink:NamedThing iatrogenic A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008422 biolink:NamedThing autosomal dominant sideroblastic anemia Autosomal dominant form of sideroblastic anemia. tmpte7i6ely_mondo_relaxed.owl anemia, sideroblastic, 4|sideroblastic anemia, autosomal dominant|SIDBA4|anemia, sideroblastic, autosomal dominant MESH:C567160|OMIM:182170|UMLS:C2674249|DOID:0060335 owl:Class MONDO:0100195 biolink:NamedThing X-linked intellectual disability with hypopituitarism An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005152 biolink:NamedThing hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. tmpte7i6ely_mondo_relaxed.owl pituitary hypofunction|pituitary hormone deficiency|pituitary insufficiency GARD:0002917|OMIM:613986|NCIT:C62591|SCTID:74728003|ICD10:E23.0|OMIM:613038|EFO:0001380|UMLS:C0020635|DOID:9406|OMIM:262700|Orphanet:95494|MESH:D007018|OMIM:262600|OMIM:221750 https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism owl:Class MONDO:0011630 biolink:NamedThing retinitis pigmentosa 28 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in FAM161A|retinitis pigmentosa type 28|RP 28|retinitis pigmentosa 28|FAM161A retinitis pigmentosa|RP28 OMIM:606068|ICD10:H35.5|DOID:0110365|GARD:0010394|UMLS:C1419614 https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28 owl:Class HGNC:25808 biolink:NamedThing FAM161A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000173 biolink:NamedThing amniotic fluid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000305 biolink:NamedThing amnion tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000155 biolink:NamedThing Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. tmpte7i6ely_mondo_relaxed.owl Mouth ulcer|Mouth sore|Oral mucosal ulceration UMLS:C0149745|SNOMEDCT_US:26284000|MSH:D019226 human_phenotype owl:Class GO:0042304 biolink:NamedThing regulation of fatty acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. tmpte7i6ely_mondo_relaxed.owl regulation of fatty acid formation|regulation of fatty acid synthesis|regulation of fatty acid anabolism|regulation of fatty acid biosynthesis owl:Class GO:0006633 biolink:NamedThing fatty acid biosynthetic process The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. tmpte7i6ely_mondo_relaxed.owl fatty acid anabolism|fatty acid biosynthesis|fatty acid formation|fatty acid synthesis owl:Class MONDO:0004193 biolink:NamedThing pediatric ovarian dysgerminoma A dysgerminoma that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl childhood ovarian dysgerminoma|childhood dysgerminoma|pediatric dysgerminoma of ovary|dysgerminoma of ovary of childhood|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma of ovary UMLS:C1332988|NCIT:C6550|DOID:7340 owl:Class MONDO:0014657 biolink:NamedThing primary ciliary dyskinesia 32 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in RSPH3|ciliary dyskinesia, primary, 32|primary ciliary dyskinesia type 32|CILD32|ciliary dyskinesia, primary, type 32|primary ciliary dyskinesia 32 without situs inversus|ciliary dyskinesia, primary, 32, without situs inversus|RSPH3 primary ciliary dyskinesia Orphanet:244|DOID:0110603|ICD10:Q34.8|UMLS:C4225311|OMIM:616481 owl:Class HGNC:21054 biolink:NamedThing RSPH3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001270 biolink:NamedThing bony pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011814 biolink:NamedThing Smith-McCort dysplasia 1 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. tmpte7i6ely_mondo_relaxed.owl Smith-McCort dysplasia type 1|SMC|DYM Smith-McCort dysplasia|SMITH-McCort dysplasia 1|Smc1|Smith-McCort dysplasia 1|Smith-McCort dysplasia caused by mutation in DYM OMIM:607326|UMLS:C3888088|Orphanet:178355 owl:Class HGNC:21317 biolink:NamedThing DYM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002030 biolink:NamedThing chronic cervicitis Chronic inflammation of the cervix. tmpte7i6ely_mondo_relaxed.owl chronic cervicitis (disease)|cervicitis (disease), chronic NCIT:C27057|UMLS:C0269062|DOID:1513|SCTID:56728002 owl:Class MONDO:0010313 biolink:NamedThing intellectual disability, X-linked 63 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene. tmpte7i6ely_mondo_relaxed.owl ACSL4-related intellectual disability|mental retardation, X-linked type 63|intellectual disability, X-linked type 63|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|mental retardation, X-linked 63|mental retardation, X-linked 68|intellectual disability, X-linked 63|ACSL4 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 68|MRX63 MESH:C564522|UMLS:C1845672|OMIM:300387|GARD:0005613 owl:Class HGNC:3571 biolink:NamedThing ACSL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010833 biolink:NamedThing Hirschsprung disease, susceptibility to, 2 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease type 2|Hirschsprung disease caused by mutation in EDNRB|Hirschsprung disease, susceptibility to, 2|Hirschsprung disease, susceptibility to, type 2|HSCR2|susceptibility to Hirschsprung disease 2|EDNRB Hirschsprung disease OMIM:600155|Orphanet:388|GARD:0002698 https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2 owl:Class MONDO:0001274 biolink:NamedThing anal spasm tmpte7i6ely_mondo_relaxed.owl DOID:11374|SCTID:17440005|UMLS:C0152167|ICD10:K59.4|ICD9:564.6 owl:Class MONDO:0002240 biolink:NamedThing acute perichondritis of pinna Acute form of perichondritis of auricle. tmpte7i6ely_mondo_relaxed.owl acute perichondritis of auricle|perichondritis of auricle, acute DOID:221|UMLS:C0155390|ICD9:380.01|SCTID:45855004 owl:Class GO:0046324 biolink:NamedThing regulation of glucose import Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpte7i6ely_mondo_relaxed.owl regulation of glucose uptake owl:Class GO:0046323 biolink:NamedThing glucose import The directed movement of the hexose monosaccharide glucose into a cell or organelle. tmpte7i6ely_mondo_relaxed.owl glucose uptake owl:Class MONDO:0000491 biolink:NamedThing limb ischemia A ischemia that involves the limb. tmpte7i6ely_mondo_relaxed.owl ischemic disease of limb|limb ischemia|limb ischemic disease DOID:0050852|SCTID:21631000119105|UMLS:C2945695 owl:Class UBERON:0002101 biolink:NamedThing limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008833 biolink:NamedThing renal-hepatic-pancreatic dysplasia 1 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. tmpte7i6ely_mondo_relaxed.owl renal-hepatic-pancreatic dysplasia type 1|Rhpd|renal-hepatic-pancreatic dysplasia 1|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|RHPD1|NPHP3 renal-hepatic-pancreatic dysplasia Orphanet:294415|UMLS:C2673883|UMLS:C3715199|OMIM:208540 owl:Class MONDO:0007601 biolink:NamedThing familial Mediterranean fever, autosomal dominant tmpte7i6ely_mondo_relaxed.owl familial Mediterranean fever, autosomal dominant|Fmf, autosomal dominant OMIM:134610|UMLS:C1851347|MESH:C565021|Orphanet:342 owl:Class HGNC:6998 biolink:NamedThing MEFV tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012741 biolink:NamedThing prostate cancer, hereditary, 12 Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene. tmpte7i6ely_mondo_relaxed.owl HPC12|prostate cancer, hereditary, 12|familial prostate cancer caused by mutation in EHBP1|EHBP1 familial prostate cancer|prostate cancer, hereditary, type 12 UMLS:C2678479|Orphanet:1331|OMIM:611868|MESH:C567510 owl:Class HGNC:29144 biolink:NamedThing EHBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004334 biolink:NamedThing non-functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. tmpte7i6ely_mondo_relaxed.owl non-functioning pancreatic endocrine tumor|nonsyndromic pancreatic endocrine tumor|non-functioning neuroendocrine tumor of pancreas|nonfunctional pancreatic NET|non-syndromic pancreatic NET|non functioning pancreatic endocrine tumor|non-functioning well-differentiated pancreatic NEN|nonfunctional pancreatic neuroendocrine tumor|non-functioning pancreatic neuroendocrine tumor|non-functioning PNET|non-functioning endocrine pancreatic tumors|inactive pancreatic endocrine tumor|non-syndromic pancreatic neuroendocrine tumor|non-functioning well-differentiated pancreatic neuroendocrine neoplasm|non-functioning EPTs|non-functioning well-differentiated NEN of pancreas|non-functional pancreatic neuroendocrine tumor|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|non-functioning pancreatic NET|non-functioning well differentiated pancreatic endocrine tumor|nonsyndromic pancreatic neuroendocrine tumor DOID:7698|UMLS:C1334977|Orphanet:506075|ICDO:8150/3|NCIT:C45837|MESH:C536126|EFO:1000398|GARD:0004002 https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor owl:Class NCIT:C45980 biolink:NamedThing Absence of a Hormonal Syndrome tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002512 biolink:NamedThing corpus luteum tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000175 biolink:NamedThing luteal cell A progesterone secreting cell in the corpus luteum. The large luteal cells develop from the granulosa cells. The small luteal cells develop from the theca cells. tmpte7i6ely_mondo_relaxed.owl lutein cell FMA:18688|BTO:0003939 cell owl:Class HGNC:3344 biolink:NamedThing ENAM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013598 biolink:NamedThing myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. tmpte7i6ely_mondo_relaxed.owl MSLHP|muscle hypertrophy OMIM:614160|HGNC:4223|ICD9:756.89|SCTID:699185005|MESH:C536106|GARD:0010238|Orphanet:275534|DOID:0111072 https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy owl:Class HGNC:4223 biolink:NamedThing MSTN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021019 biolink:NamedThing X-linked recessive ocular albinism X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. tmpte7i6ely_mondo_relaxed.owl albinism, ocular, type I|XLOA|ocular albinism, Nettleship-Falls type|albinism, ocular, type 1|OA1|X-linked ocular albinism|Nettleship-Falls type ocular albinism|Nettleship-Falls syndrome|ocular albinism type 1 UMLS:C0342684|ICD9:270.2|Orphanet:54|ICD10:E70.3|NCIT:C118785|MESH:C537863|OMIM:300500|GARD:0008471|SCTID:78642008 owl:Class HGNC:20145 biolink:NamedThing GPR143 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011104 biolink:NamedThing epiphysis of fifth metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005614 biolink:NamedThing pancreatic adenosquamous carcinoma A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl adenosquamous carcinoma of the pancreas|pancreatic adenosquamous carcinoma|pancreatic adenosquamous cancer|pancreatic mucoepidermoid carcinoma|adenosquamous pancreas carcinoma|pancreas adenosquamous carcinoma|PAASC|pancreatic adenoacanthoma|pancreatic mixed squamous and adenocarcinoma|adenosquamous carcinoma of pancreas EFO:0006732|NCIT:C5721|DOID:5637|UMLS:C1335299|ONCOTREE:PAASC owl:Class MONDO:0000945 biolink:NamedThing venous insufficiency Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle. tmpte7i6ely_mondo_relaxed.owl venous insufficiency (disease)|peripheral venous insufficiency|venous insufficiency venous insufficiency (disease) ICD9:459.81|MESH:D014689|SCTID:20696009|HP:0005293|DOID:10128|UMLS:C0042485 owl:Class UBERON:0015420 biolink:NamedThing ureteral valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014022 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene. tmpte7i6ely_mondo_relaxed.owl RXYLT1 muscular dystrophy-dystroglycanopathy, type A|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related|muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10|MDDGA10|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 DOID:0111239|Orphanet:899|OMIM:615041|UMLS:C3554381 owl:Class HGNC:13530 biolink:NamedThing RXYLT1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q13.3 biolink:NamedThing 15q13.3 (Human) tmpte7i6ely_mondo_relaxed.owl 33400000 30900000 hg38 owl:Class CHEBI:16234 biolink:NamedThing hydroxide tmpte7i6ely_mondo_relaxed.owl Hydroxide ion|oxidanide|HYDROXIDE ION|hydridooxygenate(1-)|OH-|HO-|OH(-)|hydroxide owl:Class MONDO:0019976 biolink:NamedThing dementia pugilistica Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma. tmpte7i6ely_mondo_relaxed.owl Boxer's dementia|chronic traumatic encephalopathy|punch-drunk syndrome UMLS:CN206907|SCTID:230283005|Orphanet:97353|ICD10:F01.8|MESH:D020208 owl:Class UBERON:0007645 biolink:NamedThing future meninx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004934 biolink:NamedThing submucosa of body of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001161 biolink:NamedThing body of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011628 biolink:NamedThing early premaxilla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007282 biolink:NamedThing presumptive segmental plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009618 biolink:NamedThing trunk paraxial mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022643 biolink:NamedThing carcinoma of the vocal tract A carcinoma that involves the laryngeal vocal fold. tmpte7i6ely_mondo_relaxed.owl carcinoma of laryngeal vocal fold|laryngeal vocal fold carcinoma GARD:0005996 owl:Class UBERON:0003706 biolink:NamedThing laryngeal vocal fold tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016860 biolink:NamedThing familial adenomatous polyposis due to 5q22.2 microdeletion tmpte7i6ely_mondo_relaxed.owl familial adenomatous polyposis due to del(5)(q22.2)|familial polyposis coli due to monosomy 5q22.2|colorectal adenomatous polyposis due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2 ICD10:D12.6|UMLS:CN202203|Orphanet:261584 owl:Class OBO:CHR_9606-chr5q22.2 biolink:NamedThing 5q22.2 (Human) tmpte7i6ely_mondo_relaxed.owl 113800000 112200000 hg38 owl:Class GO:0002182 biolink:NamedThing cytoplasmic translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002716 biolink:NamedThing Lymphadenopathy Enlargment (swelling) of a lymph node. tmpte7i6ely_mondo_relaxed.owl Lymph node hyperplasia|Swollen lymph nodes MSH:D000072281|SNOMEDCT_US:30746006|UMLS:C0497156 HP:0002735 human_phenotype owl:Class UBERON:0009142 biolink:NamedThing entire embryonic mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013516 biolink:NamedThing retinitis pigmentosa 60 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 60|retinitis pigmentosa caused by mutation in PRPF6|retinitis pigmentosa type 60|PRPF6 retinitis pigmentosa|RP60 DOID:0110411|ICD10:H35.5|UMLS:C3151434|OMIM:613983 owl:Class HGNC:15860 biolink:NamedThing PRPF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005831 biolink:NamedThing lymph node tuberculosis Tuberculosis of the lymph node. tmpte7i6ely_mondo_relaxed.owl lymph node tuberculosis|king's evil|tuberculous adenitis|tuberculous lymphadenopathy|scrofula EFO:0007350|SCTID:10893003|NCIT:C26896|ICD10:A18.2|MESH:D014388|DOID:4889 owl:Class UBERON:0002380 biolink:NamedThing trapezius muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002344 biolink:NamedThing Progressive neurologic deterioration tmpte7i6ely_mondo_relaxed.owl Neurologic deterioration, progressive|Progressive neurodegeneration|Worsening neurological symptoms|Neurologic deterioration|Progressive mental deterioration UMLS:C1854838 human_phenotype owl:Class NCBITaxon:815 biolink:NamedThing Bacteroidaceae tmpte7i6ely_mondo_relaxed.owl PMID:8300528|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0037740 biolink:NamedThing malignant central nervous system mesenchymal, non-meningothelial neoplasm A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system. tmpte7i6ely_mondo_relaxed.owl malignant soft tissue tumor of the CNS|malignant soft tissue neoplasm of central nervous system|malignant soft tissue tumor of CNS|malignant soft tissue neoplasm of the central nervous system|malignant central nervous system soft tissue tumor|malignant soft tissue neoplasm of CNS|malignant soft tissue tumor of the central nervous system|malignant soft tissue neoplasm of the CNS|malignant soft tissue tumor of central nervous system|malignant CNS soft tissue neoplasm|malignant central nervous system mesenchymal, non-meningothelial tumor|soft tissue cancer of central nervous system|malignant central nervous system soft tissue neoplasm|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant central nervous system mesenchymal non-meningothelial tumor|malignant central nervous system mesenchymal, non-meningothelial neoplasm|malignant CNS soft tissue tumor|soft tissue cancer of the central nervous system UMLS:C1334571|NCIT:C6758 owl:Class MONDO:0022758 biolink:NamedThing chromosome 22, monosome mosaic tmpte7i6ely_mondo_relaxed.owl chromosome 22 mosaic monosomy|Mosaic monosome 22 UMLS:CN036765|MESH:C536798 owl:Class UBERON:0000200 biolink:NamedThing gyrus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021518 biolink:NamedThing benign neoplasm of hard palate A benign neoplasm that involves the hard palate. tmpte7i6ely_mondo_relaxed.owl benign tumor of hard palate|benign hard palate neoplasm|hard palate benign neoplasm|benign tumor of the hard palate|benign hard palate tumor|benign neoplasm of the hard palate UMLS:C0345552|SCTID:92129006|ICD9:210.4|NCIT:C4403 owl:Class CL:0011101 biolink:NamedThing chorionic trophoblast cell Cells of the uterine chorion that acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001301 biolink:NamedThing epididymis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18986 biolink:NamedThing GBA2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001033 biolink:NamedThing gustatory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022654 biolink:NamedThing cardiomyopathy hypogonadism collagenoma syndrome tmpte7i6ely_mondo_relaxed.owl cardiomyopathy-hypogonadism-collagenoma syndrome MESH:C535582 owl:Class CL:2000087 biolink:NamedThing dentate gyrus of hippocampal formation basket cell Any basket cell that is part of a dentate gyrus of hippocampal formation. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-24T00:37:24Z cell owl:Class UBERON:0001885 biolink:NamedThing dentate gyrus of hippocampal formation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020809 biolink:NamedThing benign sertoli cell tumor A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site. tmpte7i6ely_mondo_relaxed.owl SERTOLI CELL TUMOR, BENIGN|Benign Androblastoma|Benign Sertoli Cell Tumor ICDO:8630/0|NCIT:C67012 owl:Class UBERON:0003135 biolink:NamedThing male reproductive organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004660 biolink:NamedThing lung carcinoma in situ A carcinoma in situ involving a lung. tmpte7i6ely_mondo_relaxed.owl stage 0 lung cancer|bronchial carcinoma in situ|stage 0 lung cancer aJCC v6 and v7|stage 0 lung cancer aJCC v6|stage 0 lung cancer aJCC v7|stage 0 lung carcinoma|carcinoma in situ of lung|lung in situ carcinoma DOID:8800|ICD9:231.2|SCTID:92649001|ICD10:D02.2|NCIT:C27467|UMLS:C0685053 owl:Class CL:0000556 biolink:NamedThing megakaryocyte A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. tmpte7i6ely_mondo_relaxed.owl megalokaryocyte|megacaryocyte|megalocaryocyte CALOHA:TS-0611|FMA:83555|BTO:0000843 Megakaryocytes are reportedly CD181-positive and CD182-positive. cell owl:Class MONDO:0012524 biolink:NamedThing corticosterone methyloxidase type 2 deficiency tmpte7i6ely_mondo_relaxed.owl aldosterone deficiency 2|18-oxidase deficiency|aldosterone deficiency due to deficiency of steroid 18-oxidase|Cmo 2 deficiency|steroid 18-oxidase deficiency|corticosterone methyloxidase type II deficiency|hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600|UMLS:C3463917|Orphanet:427|Orphanet:99763 owl:Class HGNC:2592 biolink:NamedThing CYP11B2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009414 biolink:NamedThing glycogen storage disorder due to hepatic glycogen synthase deficiency Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. tmpte7i6ely_mondo_relaxed.owl glycogen storage disease type 0a|glycogen storage disease due to glycogen synthase deficiency of liver|liver glycogen storage disease due to glycogen synthase deficiency|GSD due to hepatic glycogen synthase deficiency|GSD0A|glycogen storage disease 0, liver|hepatic glycogen synthase deficiency|hypoglycemia with deficiency of glycogen synthetase in the liver|glycogen synthase deficiency|liver glycogen synthase deficiency|glycogen storage disease due to hepatic glycogen synthase deficiency|glycogenosis type 0a|glycogen storage disease type 0|liver glycogen storage disease 0|glycogen storage disease due to liver glycogen synthase deficiency|GSD type 0a|liver GSD 0|GSD 0A|glycogen storage disease type 0, liver GARD:0002513|Orphanet:2089|MESH:C565485|GARD:0002889|SCTID:237964009|UMLS:C0342748|UMLS:C1855861|ICD10:E74.0|OMIM:240600 owl:Class HGNC:4707 biolink:NamedThing GYS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018408 biolink:NamedThing cystic echinococcosis tmpte7i6ely_mondo_relaxed.owl Echinococcus granulosus infectious disease of liver|thyroid echinococcus granulosus|unilocular echinococcosis|unilocular hydatid disease|echinococcus granulosus infectious disease of thyroid|Hydatidosis|Echinococcus granulosus infection|Echinococcus granulosus infection of thyroid|liver echinococcus granulosus|lung echinococcus granulosus|hydatid disease|echinococcus granulosus|Echinococcus granulosus infection of lung|echinococcus granulosus infectious disease of liver ICD10:B67.7|ICD10:B67.4|GARD:0002764|ICD10:B67.8|MESH:D004443|SCTID:721822004|ICD10:B67.0|ICD10:B67.2|SCTID:75006000|UMLS:C0013502|ICD10:B67.9|UMLS:C4303092|ICD10:B67.6|MedDRA:10014096|ICD10:B67.3|UMLS:C0153290|ICD10:B67.1|UMLS:C0153291|Orphanet:400|ICD10:B67.5|ICD9:122.4|DOID:1495|UMLS:C0152068 owl:Class HP:0001025 biolink:NamedThing Urticaria Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. tmpte7i6ely_mondo_relaxed.owl Hives UMLS:C0042109|SNOMEDCT_US:247472004|SNOMEDCT_US:126485001|SNOMEDCT_US:64305001|MSH:D014581|MEDDRA:10046735 human_phenotype owl:Class GO:0042110 biolink:NamedThing T cell activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpte7i6ely_mondo_relaxed.owl T-lymphocyte activation|T-cell activation|T lymphocyte activation owl:Class OBO:CHR_9606-chr14q1 biolink:NamedThing 14q1 (Human) tmpte7i6ely_mondo_relaxed.owl 37400000 17200000 hg38 owl:Class MONDO:0005810 biolink:NamedThing infectious mononucleosis A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. tmpte7i6ely_mondo_relaxed.owl Filatov's disease|Pfeiffer's disease|Mono|mononucleosis|monocytic angina|glandular fever|Gammaherpesviral mononucleosis ICD10:B27.0|NCIT:C34726|UMLS:C0021345|ICD10:B27|MESH:D007244|ICD9:075|ICD10:B27.9|EFO:0007326|SCTID:186668002|DOID:8568 owl:Class NCBITaxon:10376 biolink:NamedThing Human gammaherpesvirus 4 tmpte7i6ely_mondo_relaxed.owl Epstein-Barr virus|HHV-4|Human herpesvirus type 4|EPV|Epstein Barr virus|Human herpesvirus 4|Epstein-Barr virus EBV GC_ID:1 NCBITaxon:47902 ncbi_taxonomy owl:Class MONDO:0009454 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 1 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene. tmpte7i6ely_mondo_relaxed.owl ICF syndrome 1|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|centromeric instability, immunodeficiency syndrome|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|immunodeficiency-centromeric instability-facial anomalies syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immunodeficiency syndrome, variable|ICF1 DOID:0090008|NCIT:C156430|OMIM:242860|ICD10:D84.8|Orphanet:2268 owl:Class HGNC:2979 biolink:NamedThing DNMT3B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008243 biolink:NamedThing upper back muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005696 biolink:NamedThing central nervous system tuberculosis A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals. tmpte7i6ely_mondo_relaxed.owl intracranial tuberculoma|tuberculoma of brain|tuberculosis of meninges and central nervous system|tuberculous abscess of brain|central nervous system tuberculosis ICD9:013.20|EFO:0007199|DOID:1638|ICD9:013.2|UMLS:C0085388|ICD9:013.35|SCTID:186217006|UMLS:C2607948 owl:Class CHEBI:27027 biolink:NamedThing micronutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. tmpte7i6ely_mondo_relaxed.owl trace elements|micronutrients owl:Class MONDO:0011190 biolink:NamedThing nephronophthisis 2 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis 2|NPH2|nephronophthisis (disease) caused by mutation in INVS|INVS nephronophthisis (disease)|nephronophthisis type 2|infantile nephronophthisis 2|Nph2|NPHP2 OMIM:602088|Orphanet:93591|Orphanet:655|UMLS:C1865872|DOID:0111113|MESH:C566582 owl:Class HGNC:17870 biolink:NamedThing INVS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008966 biolink:NamedThing Aagenaes syndrome Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. tmpte7i6ely_mondo_relaxed.owl Chls|cholestasis-lymphedema syndrome|lymphedema cholestasis syndrome|LCS1|cholestasis-edema syndrome, Norwegian type|lymphedema-cholestasis syndrome|Aagenaes syndrome|cholestasis lymphedema syndrome|LCS ICD10:Q82.0|MESH:C535330|NCIT:C35709|ICD9:576.8|SCTID:28724005|DOID:6691|GARD:0000370|UMLS:C0268314|Orphanet:1414|OMIM:214900 https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome owl:Class GO:0120031 biolink:NamedThing plasma membrane bounded cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpte7i6ely_mondo_relaxed.owl eupodium owl:Class UBERON:0009567 biolink:NamedThing nail of pedal digit tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005277 biolink:NamedThing dorsal skin of toe tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045859 biolink:NamedThing regulation of protein kinase activity Any process that modulates the frequency, rate or extent of protein kinase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018523 biolink:NamedThing pancreatic mucinous cystadenoma A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass. tmpte7i6ely_mondo_relaxed.owl pancreatic mucinous cystadenocarcinoma|colloid cystadenoma of the pancreas|mucinous cystadenoma of pancreas|pancreatic mucinous cystic neoplasm|mucinous cystadenoma of the pancreas|pancreatic mucinous cystadenoma|pancreatic colloidal cystadenoma|colloid cystadenoma of pancreas|pancreatic colloid cystadenoma|pancreas mucinous cystadenoma|colloidal cystadenoma of pancreas|colloidal cystadenoma of the pancreas|mucinous cystadenocarcinoma of the pancreas NCIT:C5718|DOID:7735|DOID:7235|ICD10:C25.1|Orphanet:424053|ICD10:C25.7|ICD10:C25.8|ICD10:C25.0|ICD10:C25.2 MONDO:0004347 owl:Class UBERON:0005248 biolink:NamedThing bulbus cordis myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002094 biolink:NamedThing interventricular septum tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000415 biolink:NamedThing epithelial cell of gall bladder An epithelial cell that is part of the gallbladder. tmpte7i6ely_mondo_relaxed.owl FMA:67780 cell owl:Class CHEBI:29985 biolink:NamedThing L-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group tmpte7i6ely_mondo_relaxed.owl L-glutamate(1-)|(2S)-2-ammoniopentanedioate|L-glutamic acid monoanion|L-glutamate|L-glutamic acid, ion(1-)|hydrogen L-glutamate owl:Class UBERON:0003064 biolink:NamedThing intermediate mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001055 biolink:NamedThing environment associated with an animal part or small animal An environmental system determined by part of a living or dead animal, or a whole small animal. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002386 biolink:NamedThing mixed epithelial stromal tumor of the kidney A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. tmpte7i6ely_mondo_relaxed.owl adult mesoblastic nephroma|benign MEST|MEST|mixed epithelial and stromal tumour of kidney|mixed epithelial stromal tumor of the kidney EFO:1000381|DOID:2678|UMLS:C1272677|NCIT:C37263 owl:Class MONDO:0004028 biolink:NamedThing small intestinal fibrosarcoma A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl small intestine fibrosarcoma (disease)|small bowel fibrosarcoma|small intestine fibrosarcoma|fibrosarcoma of the small intestine|fibrosarcoma of the small bowel|fibrosarcoma of small intestine|small intestinal fibrosarcoma|fibrosarcoma, small intestine|fibrosarcoma of small bowel NCIT:C5336|DOID:6880|UMLS:C1335994 owl:Class GO:0017157 biolink:NamedThing regulation of exocytosis Any process that modulates the frequency, rate or extent of exocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004641 biolink:NamedThing spleen capsule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005309 biolink:NamedThing pronephric nephron tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018149 biolink:NamedThing GM1 gangliosidosis A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. tmpte7i6ely_mondo_relaxed.owl beta-galactosidase deficiency|GLB 1 deficiency|gangliosidosis GM1|Landing disease|deficiency of beta-galactosidase|GLB1 deficiency|Beta-galactosidase-1 deficiency|Landing syndrome|Beta-galactosidosis|Beta-galactosidase deficiency|GM>1< gangliosidosis|Beta galactosidase 1 deficiency SCTID:124465002|Orphanet:354|DOID:3322|ICD10:E75.1|NCIT:C84739|UMLS:C0085131|OMIM:230600|ICD10:E75.19|MESH:D016537|OMIM:230500|OMIM:230650|ICD9:277.6|GARD:0010891 owl:Class HGNC:4298 biolink:NamedThing GLB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013280 biolink:NamedThing myxoid liposarcoma A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. tmpte7i6ely_mondo_relaxed.owl mixed-type liposarcoma|Myxoliposarcoma|myxoid/round cell liposarcoma|myxoid liposarcoma|myxoid liposarcoma (morphologic abnormality) ICD9:171.9|NCIT:C27781|ICDO:8852/3|MESH:D018208|EFO:0000613|DOID:5363|GARD:0007157|DOID:5709|SCTID:404069006|OMIM:613488|Orphanet:69078|Orphanet:99967 MONDO:0003597 owl:Class HGNC:2726 biolink:NamedThing DDIT3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010707 biolink:NamedThing appendage girdle complex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003268 biolink:NamedThing tooth of lower jaw tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005064 biolink:NamedThing left ventricular trabecular myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034876 biolink:NamedThing future neurohypophysis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002198 biolink:NamedThing neurohypophysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009268 biolink:NamedThing Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. tmpte7i6ely_mondo_relaxed.owl Gaucher-like disease|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type 3C|pseudo Gaucher disease|Gaucher disease, type 3C|cardiovascular Gaucher disease|Gaucher disease - ophthalmoplegia - cardiovascular calcification|Gaucher disease, type IIIC Orphanet:355|UMLS:C2931585|ICD10:E75.2|GARD:0002445|OMIM:231005|UMLS:C1856476|Orphanet:2072|MESH:C565553|GARD:0012504 owl:Class HGNC:4177 biolink:NamedThing GBA tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009917 biolink:NamedThing kidney corticomedullary boundary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009658 biolink:NamedThing Sanfilippo syndrome type D A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. tmpte7i6ely_mondo_relaxed.owl N-acetylglucosamine-6-sulfatase deficiency|GNS deficiency|Sanfilippo syndrome D|N-acetylglucosamine-6-sulfate sulfatase deficiency|Mucopoly-saccharidosis type 3D|mucopolysaccharidosis, type 3D|MPS III D|Sanfilippo D|MPS 3D|MPS3D|MPS IIID|mucopolysaccharidosis type IIID|mucopolysaccharidosis, type IIID|mucopolysaccharidosis type 3D|glucosamine N-acetyl-6-sulfatase deficiency|MPSIIID|Sanfilippo syndrome type D Orphanet:79272|GARD:0007074|ICD10:E76.2|OMIM:252940|Orphanet:581|SCTID:15892005|DOID:0111402|NCIT:C84900|UMLS:C0086650 owl:Class HGNC:4422 biolink:NamedThing GNS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000038 biolink:NamedThing follicular fluid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004123 biolink:NamedThing myocardial layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006005 biolink:NamedThing Venezuelan equine encephalitis A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. tmpte7i6ely_mondo_relaxed.owl Venezuelan equine fever|Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine encephalitis virus infectious disease|Venezuelan equine encephalitis virus caused disease or disorder UMLS:C0014078|SCTID:417067005|EFO:0007534|ICD10:A92.2|MESH:D004685|DOID:9584|ICD9:066.2|GARD:0006355|NCIT:C35121 https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis owl:Class NCBITaxon:11036 biolink:NamedThing Venezuelan equine encephalitis virus tmpte7i6ely_mondo_relaxed.owl VEE|VEEV|Venezuelan equine encephalitis virus VEE|Venezuelan equine encephalomyelitis virus|Venezuelan equine encephalitis VEE GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024516 biolink:NamedThing familial acne inversa An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl familial hidradenitis suppurativa|hereditary hidradenitis suppurativa|ACNINV OMIMPS:142690 owl:Class UBERON:0009145 biolink:NamedThing pharyngeal region of foregut tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001071 biolink:NamedThing superficial cervical artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014023 biolink:NamedThing congenital muscular dystrophy with intellectual disability and severe epilepsy tmpte7i6ely_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type Iu|congenital disorder of glycosylation type Iu|congenital disorder of glycosylation type 1u|DPM2-CDG|CDG Iu|congenital disorder of glycosylation, type Iu|CMD with intellectual disability and severe epilepsy|CDG1U|CDG-Iu|CDG syndrome type Iu UMLS:C3554385|Orphanet:329178|DOID:0080571|GARD:0012416|OMIM:615042|ICD10:E77.8 owl:Class HGNC:3006 biolink:NamedThing DPM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037253 biolink:NamedThing ovarian thecoma A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign. tmpte7i6ely_mondo_relaxed.owl ovarian thecoma|theca cell neoplasm of the ovary|ovary thecoma|thecoma of the ovary|ovarian theca cell neoplasm|theca cell tumor of ovary|thecoma of ovary|theca cell neoplasm of ovary|ovarian theca cell tumor|theca cell tumor of the ovary SCTID:254864005|NCIT:C66989 owl:Class MONDO:0004207 biolink:NamedThing pulmonary artery leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of the pulmonary artery|leiomyosarcoma of pulmonary artery|pulmonary artery leiomyosarcoma NCIT:C5373|UMLS:C1335572|DOID:7389 owl:Class UBERON:0002012 biolink:NamedThing pulmonary artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003714 biolink:NamedThing neural tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010216 biolink:NamedThing xeroderma pigmentosum group G Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum group type G|xeroderma pigmentosum 7|xeroderma pigmentosum type 7|ERCC5 xeroderma pigmentosum|xeroderma pigmentosum, complementation group G|XP-G|XP7|xeroderma pigmentosum complementation group G|xeroderma pigmentosum group G|xeroderma pigmentosum VII|xeroderma pigmentosum, complementation group type G|XP group G|xeroderma pigmentosum, type G/Cockayne syndrome|xeroderma pigmentosum caused by mutation in ERCC5|XPG|XP, Group G Orphanet:1466|OMIM:278780|GARD:0005629|NCIT:C3969|Orphanet:191|UMLS:C0268141|Orphanet:220295|ICD10:Q82.1|Orphanet:910|DOID:0110849|SCTID:36454001|MESH:C562593|UMLS:C1851443|Orphanet:276267 placement based on OMIM phenotypic series 214150. owl:Class HGNC:3437 biolink:NamedThing ERCC5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011565 biolink:NamedThing lumen of gastrointestinal system tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:57986 biolink:NamedThing riboflavin(1-) An organic anion that is the conjugate base of riboflavin resulting from the removal of a proton from the nitrogen at position 3 (between the two carbonyl groups). Major microspecies at pH 7.3. tmpte7i6ely_mondo_relaxed.owl 1-deoxy-1-(7,8-dimethyl-2,4-dioxo-2H-benzo[g]pteridin-3-id-10(4H)-yl)-D-ribitol|vitamin B2(1-)|7,8-dimethyl-2,4-dioxo-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]-2H,3H,4H,10H-benzo[g]pteridin-3-ide|riboflavin|riboflavin anion owl:Class CHEBI:23357 biolink:NamedThing cofactor An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). tmpte7i6ely_mondo_relaxed.owl cofactor|cofactors owl:Class MONDO:0014684 biolink:NamedThing combined oxidative phosphorylation defect type 26 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene. tmpte7i6ely_mondo_relaxed.owl TRMT5 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 26|combined oxidative phosphorylation deficiency caused by mutation in TRMT5|COXPD26|combined oxidative phosphorylation deficiency type 26 EFO:0009036|UMLS:C4225290|Orphanet:477684|OMIM:616539|DOID:0111490 owl:Class HGNC:23141 biolink:NamedThing TRMT5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010393 biolink:NamedThing intellectual disability, X-linked 93 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene. tmpte7i6ely_mondo_relaxed.owl MRX93|mental retardation, X-linked type 93|intellectual disability, X-linked 93|intellectual disability, X-linked, with macrocephaly|BRWD3 non-syndromic X-linked intellectual disability|mental retardation, X-linked, with macrocephaly|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|intellectual disability, X-linked type 93|mental retardation, X-linked 93 UMLS:C1970841|OMIM:300659|MESH:C567066 owl:Class HGNC:17342 biolink:NamedThing BRWD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013610 biolink:NamedThing retinitis pigmentosa 61 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 61|retinitis pigmentosa caused by mutation in CLRN1|CLRN1 retinitis pigmentosa|RP61|retinitis pigmentosa type 61 UMLS:C3280041|OMIM:614180|ICD10:H35.5|DOID:0110373 owl:Class HGNC:12605 biolink:NamedThing CLRN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020478 biolink:NamedThing Leber plus disease Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations. tmpte7i6ely_mondo_relaxed.owl LHON plus disease DOID:0111754|SCTID:719430008|ICD10:H47.2|OMIM:500001|UMLS:C4304725|Orphanet:99718|OMIM:165200|UMLS:CN207347 owl:Class MONDO:0017832 biolink:NamedThing mycobacterium xenopi infection A disease caused by infection with Mycobacterium xenopi. tmpte7i6ely_mondo_relaxed.owl Mycobacterium xenopi caused disease or disorder|Mycobacterium xenopi|M. xenopi|Mycobacterium xenopi disease or disorder|Mycobacterium xenopi infectious disease GARD:0010550|Orphanet:314946|UMLS:C0275715|ICD10:A31.8 owl:Class MONDO:0013245 biolink:NamedThing syndromic multisystem autoimmune disease due to ITCH deficiency tmpte7i6ely_mondo_relaxed.owl ITCH E3 ubiquitin ligase deficiency|autoimmune disease, syndromic multisystem|syndromic multisystem autoimmune disease|autoimmune disease, multisystem, with facial dysmorphism|syndromic multisystem autoimmune disease due to ITCH deficiency|ADMFD Orphanet:228426|GARD:0010775|OMIM:613385|UMLS:C3150649 https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency owl:Class HGNC:13890 biolink:NamedThing ITCH tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4576 biolink:NamedThing GRID2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021492 biolink:NamedThing benign neoplasm of major salivary gland A benign neoplasm that involves the major salivary gland. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the Major salivary gland|benign tumor of the Major salivary gland|benign tumor of Major salivary gland|benign Major salivary gland tumor|benign Major salivary gland neoplasm|major salivary gland benign neoplasm ICD9:210.2|UMLS:C0496858|SCTID:92205005|NCIT:C4771 owl:Class MONDO:0004532 biolink:NamedThing auditory system cancer A malignant neoplasm involving the auditory system tmpte7i6ely_mondo_relaxed.owl auditory system cancer|cancer of auditory system|malignant neoplasm of auditory system|malignant auditory system neoplasm DOID:833 owl:Class UBERON:0016490 biolink:NamedThing auditory system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008895 biolink:NamedThing splanchnocranium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016588 biolink:NamedThing infantile mercury poisoning Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. tmpte7i6ely_mondo_relaxed.owl pink disease|infantile mercury intoxication|erythroedema polyneuritis|Feer disease|Swift disease|Swift-Feer disease|infantile acrodynia ICD10:T56.1|UMLS:CN201782|Orphanet:247165|SCTID:66695004|MESH:D000170 owl:Class MONDO:0011596 biolink:NamedThing atopic dermatitis 2 Any atopic eczema in which the cause of the disease is a mutation in the FLG gene. tmpte7i6ely_mondo_relaxed.owl dermatitis, ATOPIC, 2|dermatitis, Atopic, type 2|atopic dermatitis type 2|atopic eczema caused by mutation in FLG|FLG atopic eczema|ATOD2 OMIM:605803|UMLS:C1853965|DOID:0110098|MESH:C565293 owl:Class HGNC:3748 biolink:NamedThing FLG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003293 biolink:NamedThing lung leiomyoma A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of lung|lung leiomyoma|leiomyoma of the lung|pulmonary leiomyoma NCIT:C5660|UMLS:C1334447|DOID:5136|SCTID:707374005 owl:Class MONDO:0010869 biolink:NamedThing motor neuron disease with dementia and ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl motor neuron disease with dementia and ophthalmoplegia MESH:C563954|UMLS:C1838253|OMIM:600333 owl:Class GO:1904364 biolink:NamedThing positive regulation of calcitonin secretion Any process that activates or increases the frequency, rate or extent of calcitonin secretion. tmpte7i6ely_mondo_relaxed.owl upregulation of calcitonin secretion|up regulation of calcitonin secretion|up-regulation of calcitonin secretion|activation of calcitonin secretion owl:Class UBERON:0001715 biolink:NamedThing oculomotor nuclear complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014230 biolink:NamedThing candidiasis, familial, 8 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. tmpte7i6ely_mondo_relaxed.owl chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|TRAF3IP2 chronic mucocutaneous candidiasis (disease)|candidiasis, familial, 8|candidiasis, familial chronic mucocutaneous, autosomal recessive|CANDF8|candidiasis, familial, type 8 UMLS:C3714992|OMIM:615527 owl:Class HGNC:1343 biolink:NamedThing TRAF3IP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014200 biolink:NamedThing aldosterone-producing adenoma with seizures and neurological abnormalities tmpte7i6ely_mondo_relaxed.owl primary aldosteronism, seizures, and neurologic abnormalities|PASNA|Conn adenoma|aldosterone-secreting adenoma|APA with seizures and neurological abnormalities|primary aldosteronism due to Conn adenoma|aldosterone-secreting adenoma with seizures and neurological abnormalities|Conn adenoma with seizures and neurological abnormalities|aldosteronoma ICD10:E26.0|UMLS:C3809609|Orphanet:369929|OMIM:615474 owl:Class MONDO:0013966 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 4 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene. tmpte7i6ely_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 4|CVPT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, type 4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|catecholaminergic polymorphic ventricular tachycardia 4|catecholaminergic polymorphic ventricular tachycardia type 4|CPVT4 Orphanet:3286|ICD10:I47.2|UMLS:C3554047|OMIM:614916|DOID:0060678 owl:Class HGNC:1442 biolink:NamedThing CALM1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:28976 biolink:NamedThing carbonic acid tmpte7i6ely_mondo_relaxed.owl Koehlensaeure|Carbonic acid|H2CO3|[CO(OH)2]|Dihydrogen carbonate|carbonic acid|dihydroxidooxidocarbon owl:Class MONDO:0015021 biolink:NamedThing hypotonia, ataxia, and delayed development syndrome tmpte7i6ely_mondo_relaxed.owl hypotonia, ataxia, and delayed development syndrome|hypotonia, ataxia, and delayed development syndrome; HADDS|HADDS UMLS:C4310618|OMIM:617330 owl:Class MONDO:0011098 biolink:NamedThing prostate cancer, hereditary, 1 Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene. tmpte7i6ely_mondo_relaxed.owl RNASEL familial prostate cancer|prostate cancer, hereditary, type 1|HPC1|familial prostate cancer caused by mutation in RNASEL|Prca1|prostate cancer, hereditary, 1 UMLS:C2931456|OMIM:601518 owl:Class HGNC:10050 biolink:NamedThing RNASEL tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000334 biolink:NamedThing talus slope A talus slope is a slope which has a surface layer composed of scree. tmpte7i6ely_mondo_relaxed.owl scree slope owl:Class Nf053857e08184501a12cbfb38f45183b biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016002 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic type 1 A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, oculoscoliotic type|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|EDS VI|Ehlers-Danlos syndrome, type 6|EDS 6|Ehlers-Danlos syndrome, kyphoscoliosis type|Ehlers-Danlos syndrome, kyphoscoliotic type|Ehlers-Danlos syndrome, type Via|kyphoscoliotic EDS|EDSKSCL1|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome type 6 (formerly)|Ehlers-Danlos syndrome type 6A|EDS VIA|EDS6|EDS, oculoscoliotic type|Ehlers-Danlos syndrome oculoscoliotic type|kyphoscoliotic Ehlers-Danlos syndrome|EDS6A, formerly|nevo syndrome|EDS 6 (formerly)|Ehlers-Danlos syndrome, type VI|kEDS|Ehlers-Danlos syndrome, kyphoscoliotic type 1|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos syndrome, type VIA|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|Ehlers-Danlos syndrome kyphoscoliotic type|Ehlers-Danlos syndrome, type Via, formerly|Ehlers-Danlos syndrome type 6A (formerly)|Ehlers-Danlos syndrome, ocular-scoliotic type|Ehlers-Danlos syndrome, type VIA, formerly GARD:0002083|SCTID:718211004|MESH:C536198|UMLS:C0268342|NCIT:C125700|UMLS:CN202461|OMIM:225400|Orphanet:1900|ICD10:Q79.6 https://github.com/monarch-initiative/mondo/issues/4220 owl:Class MONDO:0013972 biolink:NamedThing Perrault syndrome 2 Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. tmpte7i6ely_mondo_relaxed.owl PRLTS2|Perrault syndrome 2|HARS2 Perrault syndrome|Perrault syndrome caused by mutation in HARS2|Perrault syndrome type 2 Orphanet:2855|UMLS:C3554105|OMIM:614926 owl:Class HGNC:4817 biolink:NamedThing HARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006058 biolink:NamedThing Wilms tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. tmpte7i6ely_mondo_relaxed.owl Wilms' tumor|Wilms tumor (nephroblastoma)|Wilms tumor UMLS:CN244940|NCIT:C3267|EFO:1000056|MESH:D009396|GARD:0007892 owl:Class CL:0000354 biolink:NamedThing blastemal cell tmpte7i6ely_mondo_relaxed.owl blastema cell ncithesaurus:Blastemal_Cell cell owl:Class HGNC:5228 biolink:NamedThing DNAJB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021530 biolink:NamedThing benign neoplasm of subglottis A benign neoplasm that involves the subglottis. tmpte7i6ely_mondo_relaxed.owl benign subglottic tumor|subglottis benign neoplasm|benign neoplasm of the subglottis|benign subglottis neoplasm|benign subglottis tumor|benign tumor of the subglottis|benign subglottic neoplasm|benign tumor of subglottis NCIT:C4427|SCTID:92412003|UMLS:C0345749 owl:Class UBERON:0036068 biolink:NamedThing subglottis tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002047 biolink:NamedThing Fraction B precursor B cell A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative. tmpte7i6ely_mondo_relaxed.owl Fraction B|Fr. B Markers are commonly associated with mouse cells. These cells are also reportedly RAG1-positive and RAG2-positive. tmeehan 2010-04-28T11:56:21Z cell owl:Class CL:0002045 biolink:NamedThing Fraction A pre-pro B cell A pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive. tmpte7i6ely_mondo_relaxed.owl fraction A|pre pro B cell Markers associated with mouse cells. tmeehan 2010-04-28T10:50:07Z cell owl:Class MONDO:0019278 biolink:NamedThing hair anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:79363 owl:Class UBERON:0002074 biolink:NamedThing hair shaft tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004707 biolink:NamedThing pharyngula stage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000110 biolink:NamedThing neurula stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009617 biolink:NamedThing microcephaly 1, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene. tmpte7i6ely_mondo_relaxed.owl premature chromosome condensation with microcephaly and mental retardation|PCC syndrome|premature chromosome condensation syndrome|MCPH1 autosomal recessive primary microcephaly|premature chromosome condensation with microcephaly and intellectual disability|autosomal recessive primary microcephaly caused by mutation in MCPH1|microcephaly 1, primary, autosomal recessive|MCPH1 DOID:0070285|MESH:C565384|OMIM:251200|Orphanet:52183|UMLS:C1855081|Orphanet:2512 owl:Class HGNC:6954 biolink:NamedThing MCPH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005483 biolink:NamedThing chemotherapy-induced alopecia Hair loss as a result of chemotherapy treatment. tmpte7i6ely_mondo_relaxed.owl EFO:0005400 owl:Class MAXO:0000647 biolink:NamedThing chemotherapy The use of synthetic or naturally-occurring chemicals for the treatment of diseases. tmpte7i6ely_mondo_relaxed.owl treatment with a chemotherapeutic medication|treatment with a chemotherapeutic agent|chemotherapeutic agent treatment|treatment with a chemotherapeutic drug|chemotherapeutic drug treatment owl:Class UBERON:0007827 biolink:NamedThing external nose tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014520 biolink:NamedThing 46,XX ovarian dysgenesis-short stature syndrome tmpte7i6ely_mondo_relaxed.owl ovarian dysgenesis type 4|ODG4|ovarian dysgenesis 4 OMIM:616185|ICD10:Q96.8|DOID:0080496|Orphanet:444048|UMLS:C4015409 owl:Class HGNC:21484 biolink:NamedThing MCM9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009238 biolink:NamedThing hereditary folate malabsorption Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. tmpte7i6ely_mondo_relaxed.owl folate malabsorption, hereditary|congenital folate malabsorption|folic acid transport defect|congenital defect of folate absorption GARD:0012983|MESH:C562799|Orphanet:90045|ICD10:D52.8|SCTID:62578003|OMIM:229050|UMLS:C0342705|DOID:0111678 https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption owl:Class HGNC:30521 biolink:NamedThing SLC46A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013701 biolink:NamedThing main body axis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010137 biolink:NamedThing thyroid dyshormonogenesis 5 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene. tmpte7i6ely_mondo_relaxed.owl TDH5|hypothyroidism, congenital, due to dyshormonogenesis, 5|DUOXA2 familial thyroid dyshormonogenesis|familial thyroid dyshormonogenesis caused by mutation in DUOXA2|thyroid hormonogenesis, genetic defect in, 5|thyroid dyshormonogenesis 5|thyroid dyshormonogenesis type 5 MESH:C562771|Orphanet:95716|UMLS:C0342196|SCTID:63127008|OMIM:274900 owl:Class HGNC:32698 biolink:NamedThing DUOXA2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16q biolink:NamedThing 16q (Human) tmpte7i6ely_mondo_relaxed.owl 90338345 36800000 hg38 owl:Class UBERON:0006946 biolink:NamedThing efferent duct tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000019 biolink:NamedThing sperm A mature male germ cell that develops from a spermatid. tmpte7i6ely_mondo_relaxed.owl sperm cell|spermatozoid|spermatozoon WBbt:0006798|BTO:0001277|CALOHA:TS-0949|BTO:0002046|FBbt:00004954|FMA:67338 cell owl:Class HGNC:3054 biolink:NamedThing DSPP tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35705 biolink:NamedThing immunosuppressive agent An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response. tmpte7i6ely_mondo_relaxed.owl inmunosupresor|immunosuppressant|immunosuppressive agents owl:Class GO:0005746 biolink:NamedThing mitochondrial respirasome The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpte7i6ely_mondo_relaxed.owl mitochondrial respiratory chain supercomplex|mitochondrial respiratory chain|mitochondrial electron transport chain|mitochondrial respiratory supercomplex|mitochondrial respirasome owl:Class UBERON:0004942 biolink:NamedThing submucosa of left hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001177 biolink:NamedThing left hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034644 biolink:NamedThing cellular response to UV Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. tmpte7i6ely_mondo_relaxed.owl cellular response to UV light stimulus|cellular response to ultraviolet light stimulus|cellular response to UV radiation stimulus|cellular response to ultraviolet radiation stimulus owl:Class UBERON:0014464 biolink:NamedThing renal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013052 biolink:NamedThing retinitis pigmentosa 42 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in KLHL7|retinitis pigmentosa 42|RP42|KLHL7 retinitis pigmentosa|retinitis pigmentosa type 42 OMIM:612943|ICD10:H35.5|UMLS:C2751986|DOID:0110386|MESH:C567854 owl:Class HGNC:15533 biolink:NamedThing SPRY4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007636 biolink:NamedThing frontorhiny Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed. tmpte7i6ely_mondo_relaxed.owl isolated median cleft syndrome|frontorhiny|frontonasal dysplasia 1|median Facial cleft syndrome|isolated median cleft face syndrome|frontonasal dysplasia type 1|FND1|frontonasal dysplasia|ALX3-related frontonasal dysplasia|frontonasal malformation ICD10:Q75.8|OMIM:136760|Orphanet:391474|GARD:0012642|UMLS:C1876203|NCIT:C129028 owl:Class HGNC:449 biolink:NamedThing ALX3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013889 biolink:NamedThing short stature-optic atrophy-Pelger-HuC+t anomaly syndrome tmpte7i6ely_mondo_relaxed.owl short stature-optic atrophy-Pelger-Huët anomaly syndrome|soph|short stature-optic atrophy-Pelger-HuC+t anomaly syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly|soph syndrome|short stature with optic atrophy and Pelger-Huët anomaly syndrome GARD:0010945|UMLS:C3541319|Orphanet:391677|OMIM:614800|ICD10:Q87.1 owl:Class HGNC:15625 biolink:NamedThing NBAS tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002208 biolink:NamedThing somatic diversification of immunoglobulins involved in immune response The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. tmpte7i6ely_mondo_relaxed.owl somatic diversification of immunoglobulins during immune response|somatic diversification of antibodies during immune response owl:Class GO:0002381 biolink:NamedThing immunoglobulin production involved in immunoglobulin-mediated immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl immunoglobulin biosynthetic process involved in immune response|antibody production during immune response|antibody secretion during immune response|immunoglobulin production during immune response|immunoglobulin production involved in immunoglobulin mediated immune response|immunoglobulin production involved in immune response|immunoglobulin secretion involved in immune response owl:Class OBO:CHR_9606-chr5q2 biolink:NamedThing 5q2 (Human) tmpte7i6ely_mondo_relaxed.owl 131200000 98900000 hg38 owl:Class MONDO:0023601 biolink:NamedThing non-classic congenital adrenal hyperplasia A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. tmpte7i6ely_mondo_relaxed.owl NCCAH|non classic congenital adrenal hyperplasia|late-onset congenital adrenal hyperplasia|LOCAH|non-classic congenital adrenal hyperplasia|attenuated congenital adrenal hyperplasia NCIT:C131442|UMLS:C0342467|MESH:C537877 owl:Class MONDO:0024491 biolink:NamedThing tumor grade 1, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. tmpte7i6ely_mondo_relaxed.owl well differentiated|grade I|G1|grade 1|low grade LOINC:LA9629-2|UMLS:C0475269|NCIT:C28077 owl:Class MONDO:0100316 biolink:NamedThing long QT syndrome 1 tmpte7i6ely_mondo_relaxed.owl long QT syndrome 1|long QT syndrome 1/2, digenic|ventricular fibrillation with prolonged QT interval|long QT syndrome 1, acquired, susceptibility to|long QT syndrome type 1|LQT1 SCTID:20852007|NCIT:C85049|OMIM:613693|OMIM:603830|OMIM:611820|OMIM:612955|GARD:0003284|OMIM:611819|OMIM:613688|ICD10:I45.8|MedDRA:10039211|OMIM:600919|OMIM:616249|OMIM:613695|OMIM:192500|OMIM:613485|OMIM:611818|OMIM:616247|DOID:0110644 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:9009 biolink:NamedThing PKD2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006226 biolink:NamedThing endolymphatic appendage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001860 biolink:NamedThing endolymphatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045250 biolink:NamedThing cytosolic pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order. tmpte7i6ely_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide) owl:Class MONDO:0007158 biolink:NamedThing arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal. tmpte7i6ely_mondo_relaxed.owl Arthogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis ophthalmoplegia retinopathy|DA5|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome|distal arthrogryposis type IIB|arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome|arthrogryposis, distal, type 5|arthrogryposis, distal, type 2B|oculomelic amyoplasia|distal arthrogryposis type 5|distal arthrogryposis with ophthalmoplegia OMIM:108145|SCTID:715217004|ICD10:Q68.8|UMLS:C1862472|UMLS:C1834523|Orphanet:1154|GARD:0004047 https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 owl:Class GO:0003014 biolink:NamedThing renal system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). tmpte7i6ely_mondo_relaxed.owl kidney system process|excretory system process owl:Class HGNC:6242 biolink:NamedThing KCNE2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20856 biolink:NamedThing THAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010402 biolink:NamedThing epidermis suprabasal layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001646 biolink:NamedThing abducens nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007383 biolink:NamedThing enveloping layer of ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001040 biolink:NamedThing yolk sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005687 biolink:NamedThing orbitosphenoid cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000362 biolink:NamedThing renal medulla tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000086 biolink:NamedThing adolescent stage Mature stage that refers to an adolescent who is over 13 and under 19 years old. tmpte7i6ely_mondo_relaxed.owl teen|13-18 years|teenager owl:Class UBERON:0010709 biolink:NamedThing pelvic complex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001508 biolink:NamedThing arch of aorta tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003121 biolink:NamedThing pharyngeal arch artery 4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005185 biolink:NamedThing chronic childhood arthritis An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. tmpte7i6ely_mondo_relaxed.owl Juvenile rheumatoid arthritis (AQ)|Juvenile rheumatoid arthritis|JRA NCIT:C27179|SCTID:410793008|DOID:6776|DOID:676|Wikipedia:Juvenile_idiopathic_arthritis|EFO:0002609 This class is scheduled for obsoletion owl:Class MONDO:0014698 biolink:NamedThing microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome tmpte7i6ely_mondo_relaxed.owl epilepsy, hearing loss, and intellectual disability syndrome|epilepsy, hearing loss, and mental retardation syndrome|EHLMRS|microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome OMIM:616577|UMLS:C4225276|Orphanet:457351 owl:Class HGNC:18119 biolink:NamedThing SPATA5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014350 biolink:NamedThing Seckel syndrome 8 Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene. tmpte7i6ely_mondo_relaxed.owl SCKL8|DNA2 Seckel syndrome|Seckel syndrome caused by mutation in DNA2|Seckel syndrome type 8|Seckel syndrome 8 OMIM:615807|Orphanet:808|UMLS:C3891452|DOID:0070009 owl:Class HGNC:2939 biolink:NamedThing DNA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014515 biolink:NamedThing macular dystrophy with central cone involvement tmpte7i6ely_mondo_relaxed.owl CCMD|macular dystrophy with central cone involvement UMLS:C4015371|OMIM:616170 owl:Class HGNC:28486 biolink:NamedThing MFSD8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006001 biolink:NamedThing urinary schistosomiasis A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. tmpte7i6ely_mondo_relaxed.owl Schistosoma hematobium infectious disease|schistosomiasis due to Schistosoma haematobium|Schistosoma haematobium|Schistosoma haematobium (& vesical schistosomiasis)|urinary bladder schistosomiasis|vesical schistosomiasis|urinary schistosomiasis|Schistosoma haematobium infection|Schistosoma hematobium infection|bladder schistosomiasis|schistosomiasis of bladder|cystitis with bilharziasis ICD9:120.0|MESH:D012553|NCIT:C39294|EFO:0007530|UMLS:C0276926|UMLS:C1704430|SCTID:236706006|DOID:1394 owl:Class MONDO:0011163 biolink:NamedThing malignant hyperthermia, susceptibility to, 5 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to malignant hyperthermia 5|CACNA1S malignant hyperthermia of anesthesia|malignant hyperthermia, susceptibility to, type 5|malignant hyperthermia of anesthesia caused by mutation in CACNA1S|MHS5|Mhs5|malignant hyperpyrexia susceptibility type 5|malignant hyperthermia, susceptibility to, 5|malignant hyperthermia susceptibility type 5 GARD:0003367|Orphanet:423|MESH:C535698|OMIM:601887 https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 owl:Class HGNC:1397 biolink:NamedThing CACNA1S tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:583 biolink:NamedThing APC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004974 biolink:NamedThing adrenal gland pheochromocytoma A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. tmpte7i6ely_mondo_relaxed.owl adrenal gland chromaffin paraganglioma|pheochromocytoma|adrenal medullary paraganglioma|chromaffin paraganglioma of the adrenal gland|PCC|adrenal gland Chromaffinoma|adrenal gland paraganglioma|pheochromocytoma (adrenal)|adrenal gland pheochromocytoma|adrenal pheochromocytoma|Intraadrenal paraganglioma|adrenal medullary pheochromocytoma EFO:0000239|ICDO:8700/0|OMIM:171300|NCIT:C3326|DOID:0050892 owl:Class MONDO:0013262 biolink:NamedThing dilated cardiomyopathy 1S Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy-1S|cardiomyopathy, dilated, 1S|cardiomyopathy, dilated, type 1S|MYH7 familial isolated dilated cardiomyopathy|left ventricular noncompaction 5|CMD1S|familial isolated dilated cardiomyopathy caused by mutation in MYH7|dilated cardiomyopathy type 1S DOID:0110454|GARD:0012832|OMIM:613426|Orphanet:54260|ICD10:I42.0|MESH:C563538 https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s owl:Class HGNC:7577 biolink:NamedThing MYH7 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17772 biolink:NamedThing TXN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001674 biolink:NamedThing diverticulitis of colon Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation. tmpte7i6ely_mondo_relaxed.owl colonic diverticular disease|colon diverticulitis ICD9:562.12|SCTID:111359004|ICD9:562.11|DOID:13254|UMLS:C0012814|MESH:D004239 owl:Class UBERON:0001155 biolink:NamedThing colon tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:75771 biolink:NamedThing mouse metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). tmpte7i6ely_mondo_relaxed.owl mouse metabolites|Mus musculus metabolite|Mus musculus metabolites owl:Class GO:0023061 biolink:NamedThing signal release The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. tmpte7i6ely_mondo_relaxed.owl signal secretion owl:Class MONDO:0009556 biolink:NamedThing malonic aciduria Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). tmpte7i6ely_mondo_relaxed.owl Malonicaciduria|MCD deficiency|malonic aciduria|malonic acidemia|malonyl-CoA decarboxylase deficiency Orphanet:943|SCTID:361203007|ICD10:E72.8|MESH:C535702|OMIM:248360|GARD:0003371|UMLS:C0342793 owl:Class HGNC:7150 biolink:NamedThing MLYCD tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071902 biolink:NamedThing positive regulation of protein serine/threonine kinase activity Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001378 biolink:NamedThing urachus cancer A malignant neoplasm involving the urachus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of urachus|malignant urachus neoplasm|cancer of urachus|urachus cancer|malignant tumor of urachus SCTID:363456000|DOID:11817|UMLS:C0153615|ICD9:188.7|ICD10:C67.7 owl:Class MONDO:0014431 biolink:NamedThing LIPE-related familial partial lipodystrophy tmpte7i6ely_mondo_relaxed.owl familial partial lipodystrophy type 6|familial partial lipodystrophy associated with LIPE mutations|FPLD6|lipodystrophy, familial partial, associated with Lipe mutations|lipodystrophy, familial partial, type 6|LIPE-related FPLD GARD:0013126|OMIM:615980|ICD10:E88.1|DOID:0070206|Orphanet:435660|UMLS:C4014869 https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy owl:Class HGNC:6621 biolink:NamedThing LIPE tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000086 biolink:NamedThing neocortex basket cell Any basket cell that is part of a neocortex. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-24T00:37:19Z cell owl:Class UBERON:0001950 biolink:NamedThing neocortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004997 biolink:NamedThing mucosa of pyloric antrum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004998 biolink:NamedThing mucosa of pylorus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002199 biolink:NamedThing integument tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060627 biolink:NamedThing regulation of vesicle-mediated transport Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6408 biolink:NamedThing MAFB tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000063 biolink:NamedThing water body An accumulation of water of varying size. tmpte7i6ely_mondo_relaxed.owl aquatic feature|waterbody|body of water|hydrographic feature|bodies of water owl:Class ENVO:01000819 biolink:NamedThing hydrosphere An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet. tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000524 biolink:NamedThing exposure to mycotoxin An exposure to mycotoxin. tmpte7i6ely_mondo_relaxed.owl exposure to mycotoxin owl:Class UBERON:0006567 biolink:NamedThing right ventricle myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011837 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 2 Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene. tmpte7i6ely_mondo_relaxed.owl VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|VKCFD2|vitamin K-dependent clotting factors, combined deficiency of, 2|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1|vitamin K-dependent clotting factors, combined deficiency of, type 2 MESH:C564393|UMLS:C1843832|OMIM:607473 owl:Class HGNC:23663 biolink:NamedThing VKORC1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000195 biolink:NamedThing negative regulation of female gonad development Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development. tmpte7i6ely_mondo_relaxed.owl negative regulation of ovary development|negative regulation of ovarian development owl:Class GO:0008585 biolink:NamedThing female gonad development The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl ovarian development|ovary development owl:Class MONDO:0011528 biolink:NamedThing hyper-IgM syndrome type 2 A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. tmpte7i6ely_mondo_relaxed.owl Activation-induced cytidine deaminase deficiency|activation-induced cytidine deaminase deficiency|immunodeficiency with hyper-IgM type 2|hyper-IgM syndrome type 2|hyper IgM syndrome 2|hyper-IgM syndrome caused by mutation in AICDA|immunodeficiency with hyper IgM type 2|hyper-IgM syndrome 2|AICDA hyper-IgM syndrome|aid deficiency|HIGM2|immunodeficiency with hyper-IgM, type 2 NCIT:C129074|Orphanet:183666|ICD10:D80.5|GARD:0010578|Orphanet:101089|OMIM:605258|SCTID:403836001|DOID:0060758 https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2 owl:Class HGNC:13203 biolink:NamedThing AICDA tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q1 biolink:NamedThing 8q1 (Human) tmpte7i6ely_mondo_relaxed.owl 72000000 45200000 hg38 owl:Class MONDO:0012652 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2L A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2L|ANO5 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2L|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5|LGMD2L UMLS:C1969785|Orphanet:206549|ICD10:G71.0|DOID:0110284|OMIM:611307|GARD:0012536|MESH:C566968 owl:Class HGNC:27337 biolink:NamedThing ANO5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000088 biolink:NamedThing trophoblast tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000358 biolink:NamedThing blastocyst tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001253 biolink:NamedThing lamina propria of ureter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004980 biolink:NamedThing mucosa of ureter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010225 biolink:NamedThing Dent disease type 1 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. tmpte7i6ely_mondo_relaxed.owl urolithiasis, hypercalciuric, X-linked|DENT disease 1|Dent disease type 1|Dent disease caused by mutation in CLCN5|nephrolithiasis, hypercalciuric, X-linked|nephrolithiasis 2|CLCN5 Dent disease|nephrolithiasis type 1 SCTID:717789008|OMIM:310468|UMLS:CN206679|Orphanet:1652|OMIM:300554|Orphanet:93622|OMIM:308990|OMIM:300009|ICD10:N25.8|UMLS:C4305530 owl:Class HGNC:2023 biolink:NamedThing CLCN5 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:64320 biolink:NamedThing Zika virus tmpte7i6ely_mondo_relaxed.owl ZIKV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013198 biolink:NamedThing dilated cardiomyopathy 1EE Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1EE|CMD1EE|familial isolated dilated cardiomyopathy caused by mutation in MYH6|dilated cardiomyopathy type 1EE|MYH6 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Ee DOID:0110453|UMLS:C2750466|OMIM:613252|MESH:C567683|Orphanet:154|ICD10:I42.0 owl:Class HGNC:7576 biolink:NamedThing MYH6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004932 biolink:NamedThing submucosa of sigmoid colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003341 biolink:NamedThing subungual glomus tumor A glomus tumor arising in the finger and usually associated with pain. tmpte7i6ely_mondo_relaxed.owl subungual glomus tumor UMLS:C1304510|SCTID:403973004|ICD9:228.09|DOID:5236|NCIT:C36079 owl:Class MONDO:0009239 biolink:NamedThing hypogonadotropic hypogonadism 24 without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene. tmpte7i6ely_mondo_relaxed.owl isolated follicle stimulating hormone deficiency|hypogonadotropic hypogonadism caused by mutation in FSHB|FSHB hypogonadotropic hypogonadism|HH24|isolated FSH deficiency|isolated follicle-stimulating hormone (FSH) deficiency|hypogonadotropic hypogonadism 24 without anosmia|isolated follicle-stimulating hormone deficiency|follicle-stimulating hormone deficiency, isolated GARD:0010128|SCTID:758664007|DOID:0090088|Orphanet:52901|UMLS:C1856716|MESH:C537070|ICD10:E23.6|OMIM:229070 owl:Class UBERON:0003403 biolink:NamedThing skin of forearm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034121 biolink:NamedThing NAD(P)HX dehydratase deficiency tmpte7i6ely_mondo_relaxed.owl ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2|PEBEL2 Orphanet:555402|OMIM:618321 owl:Class HGNC:25576 biolink:NamedThing NAXD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007086 biolink:NamedThing autosomal dominant Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. tmpte7i6ely_mondo_relaxed.owl renal failure and sensorineural hearing loss|Alport syndrome dominant type|Alport syndrome, autosomal dominant DOID:0110032|OMIM:104200|ICD10:Q87.8|Orphanet:88918|Orphanet:63|GARD:0000624|SCTID:717766000 https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome owl:Class GO:0033145 biolink:NamedThing positive regulation of intracellular steroid hormone receptor signaling pathway Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl positive regulation of steroid hormone receptor signalling pathway|positive regulation of steroid hormone receptor signaling pathway owl:Class UBERON:0004874 biolink:NamedThing somatopleure tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26784 biolink:NamedThing MTRFR tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32762 biolink:NamedThing L-tyrosinium An optically active form of tyrosinium having L-configuration. tmpte7i6ely_mondo_relaxed.owl L-tyrosinium|(1S)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|L-tyrosine cation owl:Class UBERON:0011931 biolink:NamedThing nasal hair tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001758 biolink:NamedThing periodontium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010185 biolink:NamedThing rete ovarii tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013880 biolink:NamedThing facial paresis, hereditary congenital, 3 Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene. tmpte7i6ely_mondo_relaxed.owl facial paresis, hereditary congenital, 3|congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|facial paresis, hereditary congenital, type 3|HCFP3|HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome UMLS:C3553625|Orphanet:306530|OMIM:614744 owl:Class HGNC:5111 biolink:NamedThing HOXB1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:46661 biolink:NamedThing asbestos Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. tmpte7i6ely_mondo_relaxed.owl Asbest|asbesto|asbestos owl:Class UBERON:0001296 biolink:NamedThing myometrium tmpte7i6ely_mondo_relaxed.owl owl:Class N48c4351fa1e544bc8270d264f507acb6 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:1905903 biolink:NamedThing negative regulation of mesoderm formation Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation. tmpte7i6ely_mondo_relaxed.owl downregulation of mesoderm formation|down-regulation of mesoderm formation|inhibition of mesoderm formation|down regulation of mesoderm formation owl:Class GO:0001707 biolink:NamedThing mesoderm formation The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000417 biolink:NamedThing myoepithelial cell of sweat gland A myoepithelial cell that is part of the sweat gland. tmpte7i6ely_mondo_relaxed.owl FMA:67801 cell owl:Class MONDO:0000836 biolink:NamedThing disease of bone structure tmpte7i6ely_mondo_relaxed.owl bone structure disease DOID:0080010 owl:Class MONDO:0042967 biolink:NamedThing rheumatic disease of mitral valve A rheumatologic disorder that involves the mitral valve. tmpte7i6ely_mondo_relaxed.owl mitral valve rheumatologic disorder|rheumatic mitral valve changes|rheumatic mitral valve disease|rheumatic disease of mitral valve|rheumatologic disorder of mitral valve SCTID:83898004|UMLS:C0264765 owl:Class UBERON:0002135 biolink:NamedThing mitral valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0036779 biolink:NamedThing axillary neoplasm A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes. tmpte7i6ely_mondo_relaxed.owl neoplasm of axilla|axilla neoplasm|tumor of axilla|axilla tumor|axillary neoplasm NCIT:C35749|UMLS:C1290308|SCTID:126639006 owl:Class UBERON:0009472 biolink:NamedThing axilla tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001179 biolink:NamedThing peritoneal cavity tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0007000 biolink:NamedThing preameloblast Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. tmpte7i6ely_mondo_relaxed.owl unsure of neural crest contribution. In VSAO we have develops_from CL:0000008 haendel 2012-06-15T01:27:01Z cell owl:Class HGNC:28958 biolink:NamedThing NUP93 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013377 biolink:NamedThing isolated microphthalmia 7 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene. tmpte7i6ely_mondo_relaxed.owl GDF3 isolated microphthalmia|isolated microphthalmia caused by mutation in GDF3|MCOP7|microphthalmia, isolated type 7|microphthalmia, isolated 7|isolated microphthalmia type 7 Orphanet:2542|ICD10:Q11.0|OMIM:613704|DOID:0060838|UMLS:C3150969 owl:Class UBERON:0007689 biolink:NamedThing thyroid diverticulum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010509 biolink:NamedThing intellectual disability, X-linked 104 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene. tmpte7i6ely_mondo_relaxed.owl FRMPD4 non-syndromic X-linked intellectual disability|MRX104|mental retardation, X-linked 104|mental retardation, X-linked type 104|non-syndromic X-linked intellectual disability caused by mutation in FRMPD4|intellectual disability, X-linked type 104|intellectual disability, X-linked 104 OMIM:300983|UMLS:C4310817 owl:Class HGNC:29007 biolink:NamedThing FRMPD4 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000092 biolink:NamedThing hair follicular keratinocyte Any keratinocyte that is part of a hair follicle. tmpte7i6ely_mondo_relaxed.owl TermGenie 2015-03-31T21:07:02Z cell owl:Class UBERON:0007692 biolink:NamedThing nucleus of thalamus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001897 biolink:NamedThing dorsal plus ventral thalamus tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:42068 biolink:NamedThing Pneumocystis jirovecii tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:1540 biolink:NamedThing SERPINA6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011919 biolink:NamedThing yolk sac blood island tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003316 biolink:NamedThing mesenchyme of yolk sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001635 biolink:NamedThing superior cerebellar artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015804 biolink:NamedThing infant botulism A botulism that occurs between 28 days to one year of life.. tmpte7i6ely_mondo_relaxed.owl botulism of infancy|infant intestinal toxemia botulism|infantile botulism|infant intestinal toxin-mediated botulism|infant intestinal botulism|infantile onset botulism ICD10:A05.1|DOID:0050354|Orphanet:178478|NCIT:C128343|SCTID:414488002|UMLS:C0238027|ICD10:A48.51 owl:Class HP:0001254 biolink:NamedThing Lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. tmpte7i6ely_mondo_relaxed.owl Lethargy UMLS:C0023380|SNOMEDCT_US:214264003|MSH:D053609 human_phenotype owl:Class UBERON:0000383 biolink:NamedThing musculature of body tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011001 biolink:NamedThing Brugada syndrome 1 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. tmpte7i6ely_mondo_relaxed.owl Brugada syndrome 1|sudden unexplained nocturnal death syndrome|Cardiac conduction defect, nonspecific|right bundle branch block, St segment elevation, and sudden death syndrome|SCN5A Brugada syndrome|Brugada syndrome caused by mutation in SCN5A|Brugada syndrome type 1|BRGDA1 UMLS:C1142166|ICD10:I49.8|OMIM:601144|Orphanet:130|DOID:0110218|UMLS:CN029323 owl:Class MONDO:0004988 biolink:NamedThing breast adenocarcinoma A carcinoma that arises from glandular epithelial cells of the breast tmpte7i6ely_mondo_relaxed.owl breast adenocarcinoma|mammary adenocarcinoma|adenocarcinoma of the breast|adenocarcinoma of breast DOID:3458|EFO:0000304|NCIT:C5214 owl:Class GO:0035305 biolink:NamedThing negative regulation of dephosphorylation Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. tmpte7i6ely_mondo_relaxed.owl down-regulation of dephosphorylation|downregulation of dephosphorylation|inhibition of dephosphorylation|down regulation of dephosphorylation owl:Class GO:0016311 biolink:NamedThing dephosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018950 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. tmpte7i6ely_mondo_relaxed.owl 3-methylcrotonyl-CoA carboxylase deficiency|MCC deficiency|BMCC deficiency|3-methylcrotonylglycinuria|methylcrotonylglycinuria|MCCD|3MCC deficiency|3-MCC deficiency|Methylcrotonyl-CoA carboxylase deficiency OMIMPS:210200|UMLS:C0268600|SCTID:13144005|UMLS:CN239165|Orphanet:6|NCIT:C98674|OMIM:210210|ICD10:E71.1|DOID:0050710|MESH:C535308|GARD:0010954|OMIM:210200 owl:Class OBO:MF_0000008 biolink:NamedThing cognitive process A mental process that creates, modifies or has as participant some cognitive representation. tmpte7i6ely_mondo_relaxed.owl GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' owl:Class HP:0003076 biolink:NamedThing Glycosuria An increased concentration of glucose in the urine. tmpte7i6ely_mondo_relaxed.owl Glucose in urine|Glucosuria MSH:D006029|UMLS:C0017979|SNOMEDCT_US:45154002 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. HP:0003122 human_phenotype owl:Class OBO:CHR_9606-chr1q21 biolink:NamedThing 1q21 (Human) tmpte7i6ely_mondo_relaxed.owl 155100000 143200000 hg38 owl:Class CHEBI:30762 biolink:NamedThing salicylate A monohydroxybenzoate that is the conjugate base of salicylic acid. tmpte7i6ely_mondo_relaxed.owl 2-hydroxybenzoate|sal|o-hydroxybenzoate|salicylate|2-hydroxybenzoic acid ion(1-)|Salicylate owl:Class CHEBI:16914 biolink:NamedThing salicylic acid A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves. tmpte7i6ely_mondo_relaxed.owl 2-hydroxybenzoic acid|o-hydroxybenzoic acid|o-Hydroxybenzoic acid|2-carboxyphenol|2-HYDROXYBENZOIC ACID|Salicylic acid|o-carboxyphenol owl:Class UBERON:0014704 biolink:NamedThing pleuroperitoneal canal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:15956 biolink:NamedThing biotin An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins. tmpte7i6ely_mondo_relaxed.owl biotina|(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid|biotinum|Coenzyme R|Vitamin H|vitamin B7|5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid|D-(+)-biotin|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid|cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid|cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid|BIOTIN|D-Biotin|(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid|biotin|cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid|biotine owl:Class CHEBI:26348 biolink:NamedThing prosthetic group A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. tmpte7i6ely_mondo_relaxed.owl groupe prosthetique|prosthetic groups|prosthetic group owl:Class UBERON:0002350 biolink:NamedThing conducting system of heart tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020546 biolink:NamedThing acute graft versus host disease A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. tmpte7i6ely_mondo_relaxed.owl GVHD, acute|graft versus host disease, acute|fulminant graft versus host disease|acute GVHD ICD10:D89.810|Orphanet:99920|NCIT:C4980|UMLS:C0856825|GARD:0006544|ICD9:279.51|SCTID:402355000|ICD10:T86.0|MedDRA:10066260|UMLS:C0018133 https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease owl:Class UBERON:0009744 biolink:NamedThing lymph node medullary sinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002007 biolink:NamedThing medulla of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004067 biolink:NamedThing gallbladder mucinous adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. tmpte7i6ely_mondo_relaxed.owl colloidal carcinoma of gallbladder|gallbladder mucinous adenocarcinoma|colloid carcinoma of gallbladder|gall bladder mucinous adenocarcinoma|gallbladder colloidal carcinoma|mucinous carcinoma of the gallbladder|gallbladder colloid carcinoma|mucinous carcinoma of gallbladder|colloid carcinoma of the gallbladder|gallbladder mucinous carcinoma|colloidal carcinoma of the gallbladder UMLS:C1333750|NCIT:C5744|DOID:6998 owl:Class MONDO:0008597 biolink:NamedThing trichorhinophalangeal syndrome, type III A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. tmpte7i6ely_mondo_relaxed.owl trichorhinophalangeal syndrome type 3|trichorhinophalangeal syndrome, type III|Sugio-Kajii syndrome|TRPS3|trichorhinophalangeal syndrome, type 3|TRPS 3 DOID:0080376|Orphanet:77258|OMIM:190351|UMLS:C1860823|GARD:0007802 owl:Class HGNC:12340 biolink:NamedThing TRPS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3247 biolink:NamedThing EHHADH tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000144 biolink:NamedThing 50-year-old human stage Middle aged stage that refers to an adult who is over 50 and under 51. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002726 biolink:NamedThing cervical spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:8287 biolink:NamedThing Sarcopterygii tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011032 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 11 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 11|autosomal dominant nonsyndromic deafness type 11|DFNA11|MYO7A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 11|autosomal dominant nonsyndromic deafness 11|deafness, autosomal dominant 11|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A UMLS:C1832475|ICD10:H90.3|Orphanet:90635|MESH:C563353|OMIM:601317|DOID:0110543 owl:Class HGNC:7606 biolink:NamedThing MYO7A tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:32525 biolink:NamedThing Theria tmpte7i6ely_mondo_relaxed.owl Theria GC_ID:1 ncbi_taxonomy owl:Class CHEBI:76924 biolink:NamedThing plant metabolite Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. tmpte7i6ely_mondo_relaxed.owl plant metabolites|plant secondary metabolites owl:Class MONDO:0005217 biolink:NamedThing familial cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary cardiomyopathy EFO:0002945|SCTID:35728003|UMLS:C0264789|OMIM:115200|ICD9:425.4 owl:Class MONDO:0024531 biolink:NamedThing myopathy, tubular aggregate, 1 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene. tmpte7i6ely_mondo_relaxed.owl tubular aggregate myopathy caused by mutation in STIM1|tubular aggregate myopathy|myopathy, tubular aggregate, 1|STIM1 tubular aggregate myopathy|TAM1|myopathy, tubular aggregate OMIM:160565|UMLS:C4011726|Orphanet:2593 owl:Class HGNC:11386 biolink:NamedThing STIM1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005037 biolink:NamedThing mucosa of lobar bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002057 biolink:NamedThing breast leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl breast leiomyoma|leiomyoma of breast UMLS:C1511317|DOID:1623|NCIT:C40399 owl:Class UBERON:0001448 biolink:NamedThing metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056805 biolink:NamedThing benign peripheral nerve granular cell tumor A benign granular cell tumor that involves the nerve. tmpte7i6ely_mondo_relaxed.owl benign granular cell tumor of nerve|nerve benign granular cell tumor|benign peripheral nerve granular cell tumor|benign peripheral nerve granular cell neoplasm|benign granular cell neoplasm of peripheral nerve|benign granular cell tumor of peripheral nerve|benign granular cell neoplasm of the peripheral nerve|benign granular cell tumor of the peripheral nerve UMLS:C1332530|NCIT:C5502 owl:Class MONDO:0007723 biolink:NamedThing Hirschsprung disease, susceptibility to, 1 Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease|Hirschsprung disease, susceptibility to, type 1|megacolon, aganglionic|Hirschsprung disease caused by mutation in RET|Hirschsprung disease, susceptibility to, 1|RET Hirschsprung disease|susceptibility to Hirschsprung disease 1|HSCR1|aganglionic megacolon|Hirschsprung disease, protection against Orphanet:388|UMLS:C2931876|OMIM:142623 owl:Class HGNC:9967 biolink:NamedThing RET tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000365 biolink:NamedThing Hearing impairment A decreased magnitude of the sensory perception of sound. tmpte7i6ely_mondo_relaxed.owl Hearing loss|Deafness|Hypoacusis|Hypacusis|Hearing defect|Hearing impairment MSH:D034381|UMLS:C0018772|SNOMEDCT_US:15188001|SNOMEDCT_US:103276001|UMLS:C0339789|MSH:D003638|SNOMEDCT_US:95828007|SNOMEDCT_US:343087000|UMLS:C1384666|Fyler:4868|UMLS:C0011053 Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. HP:0001728|HP:0008560|HP:0008563|HP:0001754|HP:0001729|HP:0000404 human_phenotype owl:Class MONDO:0043919 biolink:NamedThing radiation pneumonitis Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. tmpte7i6ely_mondo_relaxed.owl fibrosis, radiation|pneumonitis, radiation|radiation Pneumonias|radiation Pneumonitides|pulmonary radiation alveolitis|Pneumonitides, radiation|radiation pneumonia|radiation pneumonitis|pneumonia, radiation|Pneumonias, radiation|radiation fibrosis SCTID:84004001|MESH:D017564|EFO:0008517 owl:Class GO:0032056 biolink:NamedThing positive regulation of translation in response to stress Any process that activates or increases the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl stimulation of translation in response to stress|activation of translation in response to stress|upregulation of translation in response to stress|up-regulation of translation in response to stress|up regulation of translation in response to stress owl:Class MONDO:0036501 biolink:NamedThing refractory malignant neoplasm A malignant neoplasm that does not respond to treatment. tmpte7i6ely_mondo_relaxed.owl clinical resistance|resistant cancer|refractory cancer|refractory malignant neoplasm UMLS:C0677936|NCIT:C120186 owl:Class HP:0031375 biolink:NamedThing Refractory Applies to a sign or symptom that is difficult to treat or cure. tmpte7i6ely_mondo_relaxed.owl 2017-09-02 01:54:32+00:00 peter human_phenotype owl:Class HGNC:29068 biolink:NamedThing KATNIP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048863 biolink:NamedThing stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098794 biolink:NamedThing postsynapse The part of a synapse that is part of the post-synaptic cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014636 biolink:NamedThing combined oxidative phosphorylation defect type 25 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 25|COXPD25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MARS2|combined oxidative phosphorylation deficiency 25 UMLS:C4225329|EFO:0009035|Orphanet:447954|OMIM:616430|ICD10:E88.8|DOID:0111468 owl:Class HGNC:25133 biolink:NamedThing MARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001724 biolink:NamedThing supraglottis cancer A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of supraglottis|malignant neoplasm of extrinsic larynx|malignant tumor of supraglottis|malignant tumor of the supraglottis|malignant supraglottic part of larynx neoplasm|cancer of supraglottic part of larynx|malignant neoplasm of the supraglottis|malignant supraglottis tumor|Ca larynx - supraglottis|malignant neoplasm of supraglottic part of larynx|malignant supraglottic tumor|malignant supraglottic neoplasm|malignant supraglottis neoplasm|supraglottic part of larynx cancer UMLS:C0153484|DOID:13476|SCTID:187842004|ICD9:161.1|NCIT:C3545|ICD10:C32.1 supraglottis owl:Class UBERON:0036263 biolink:NamedThing supraglottic part of larynx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2000364 biolink:NamedThing hypural tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2002068 biolink:NamedThing lower hypural set tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1736 biolink:NamedThing CDC42 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009734 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 1 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene. tmpte7i6ely_mondo_relaxed.owl hypoglycemia, hyperinsulinemic, of infancy|persistent hyperinsulinemic hypoglycemia of infancy|ABCC8 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|HHF1|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|Nesidioblastosis of pancreas|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia, familial, type 1|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hyperinsulinism, familial, with pancreatic Nesidioblastosis|hyperinsulinism, congenital OMIM:256450|SCTID:360339005|UMLS:C2931833|DOID:0070219|Orphanet:276598|Orphanet:276575|Orphanet:79643 owl:Class HGNC:59 biolink:NamedThing ABCC8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010501 biolink:NamedThing syndromic X-linked intellectual disability 34 Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic 34|syndromic X-linked mental retardation Mircsof-Langouet type|intellectual disability, X-linked, syndromic 34|macrocephaly-intellectual disability-left ventricular non compaction syndrome|intellectual disability, X-linked, syndromic type 34|syndromic X-linked intellectual disability type 34|X-linked syndromic intellectual disability caused by mutation in NONO|syndromic X-linked intellectual disability Mircsof-Langouet type|MRXSML|NONO X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic type 34|mental retardation, X-linked, syndromic, Mircsof-Langouet type|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|MRXS34 OMIM:300967|DOID:0060817|Orphanet:466791 owl:Class HGNC:7871 biolink:NamedThing NONO tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:76967 biolink:NamedThing human xenobiotic metabolite Any human metabolite produced by metabolism of a xenobiotic compound in humans. tmpte7i6ely_mondo_relaxed.owl human xenobiotic metabolites owl:Class GO:0044093 biolink:NamedThing positive regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013660 biolink:NamedThing arthrogryposis, Perthes disease, and upward gaze palsy tmpte7i6ely_mondo_relaxed.owl arthrogryposis, Perthes disease, and upward gaze palsy|APUG UMLS:C3280309|OMIM:614262 owl:Class HGNC:18591 biolink:NamedThing NEK9 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2150 biolink:NamedThing CNGA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012679 biolink:NamedThing autosomal recessive osteopetrosis 6 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene. tmpte7i6ely_mondo_relaxed.owl osteopetrosis, autosomal recessive type 6|PLEKHM1 osteopetrosis (disease)|osteopetrosis (disease) caused by mutation in PLEKHM1|autosomal recessive intermediate osteopetrosis|osteopetrosis autosomal recessive 6|osteopetrosis, autosomal recessive, Intermediate form|intermediate osteopetrosis|autosomal recessive osteopetrosis intermediate form|osteopetrosis, autosomal recessive 6|osteopetrosis autosomal recessive intermediate form|OPTB6|autosomal recessive osteopetrosis type 6 UMLS:C1969093|MESH:C566931|OMIM:611497|ICD10:Q78.2|GARD:0004156|DOID:0110945|Orphanet:210110 https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 owl:Class HGNC:29017 biolink:NamedThing PLEKHM1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000093 biolink:NamedThing bronchus fibroblast of lung Any fibroblast of lung that is part of a bronchus. tmpte7i6ely_mondo_relaxed.owl TermGenie 2015-03-31T21:16:22Z cell owl:Class UBERON:0001701 biolink:NamedThing glossopharyngeal ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005491 biolink:NamedThing glossopharyngeal neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004466 biolink:NamedThing musculature of leg tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012570 biolink:NamedThing body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. tmpte7i6ely_mondo_relaxed.owl pseudoxanthoma elasticum-like syndrome|PXE-like syndrome|pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|PXE-like disorder with multiple coagulation Factor deficiency UMLS:C4049241|ICD10:D68.4|UMLS:C1835813|Orphanet:91135|SCTID:717941005|OMIM:610842|MESH:C563654 owl:Class MONDO:0014017 biolink:NamedThing autism, susceptibility to, 18 tmpte7i6ely_mondo_relaxed.owl AUTS18|autism, susceptibility to, type 18|susceptibility to autism 18|autism, susceptibility to, 18 OMIM:615032 owl:Class GO:0030887 biolink:NamedThing positive regulation of myeloid dendritic cell activation Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. tmpte7i6ely_mondo_relaxed.owl activation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|up regulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation owl:Class UBERON:0013760 biolink:NamedThing external cervical os tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012249 biolink:NamedThing ectocervix tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005262 biolink:NamedThing calcium channel activity Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006730 biolink:NamedThing drug psychosis Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance. tmpte7i6ely_mondo_relaxed.owl drug-induced psychotic disorder|drug-induced psychosis SCTID:191483003|MedDRA:10045855|MESH:D011605|EFO:1000902|DOID:1742|ICD9:292.1 owl:Class ECTO:0000509 biolink:NamedThing exposure to drug An exposure to drug. tmpte7i6ely_mondo_relaxed.owl exposure to drug owl:Class MONDO:0014739 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 97 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene. tmpte7i6ely_mondo_relaxed.owl MET autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 97|autosomal recessive nonsyndromic deafness 97|DFNB97|autosomal recessive nonsyndromic deafness caused by mutation in MET|deafness, autosomal recessive 97|autosomal recessive nonsyndromic deafness type 97|autosomal recessive deafness 97 UMLS:C4084709|ICD10:H90.3|DOID:0110539|OMIM:616705 owl:Class HGNC:7029 biolink:NamedThing MET tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024284 biolink:NamedThing demodicidosis of sebaceous gland A demodicidosis that involves the sebaceous gland. tmpte7i6ely_mondo_relaxed.owl sebaceous gland demodicidosis owl:Class NCBITaxon:574145 biolink:NamedThing Demodex brevis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016897 biolink:NamedThing partial deletion of the short arm of chromosome 19 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome 19p|partial deletion of the short arm of chromosome type 19|partial monosomy of the short arm of chromosome 19|partial monosomy of chromosome 19p ICD10:Q93.5|Orphanet:261983 owl:Class MONDO:0010235 biolink:NamedThing X-linked intellectual disability-psychosis-macroorchidism syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic type 13|X-linked mental retardation with spasticity|PPM-X syndrome|mental retardation, X-linked 16|mental retardation, X-linked, syndromic 13|X-linked intellectual disability 79|intellectual disability, X-linked, syndromic 13|intellectual disability with psychosis, pyramidal signs, and macroorchidism|mental retardation with psychosis, pyramidal signs, and macroorchidism|PPM-X|intellectual disability, X-linked 79|intellectual deficit, X-linked - psychosis - macroorchidism|mental retardation, X-linked, with spasticity|MRXS13|mental retardation, X-linked 79|X-linked intellectual disability with spasticity|intellectual disability, X-linked, with spasticity|X-linked mental retardation 79|mental retardation psychosis macroorchidism|mental retardation, X-linked, syndromic type 13|intellectual disability psychosis macroorchidism|Lindsay-Burn syndrome|intellectual disability, X-linked 16 GARD:0003506|ICD10:F71.1|OMIM:300055|ICD9:758.89|SCTID:702356009|DOID:0060827|Orphanet:3077 https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome owl:Class UBERON:0035174 biolink:NamedThing right ear tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0110110 biolink:NamedThing positive regulation of animal organ morphogenesis Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009887 biolink:NamedThing animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpte7i6ely_mondo_relaxed.owl histogenesis and organogenesis owl:Class MONDO:0008708 biolink:NamedThing acrocallosal syndrome Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Schinzel acrocallosal syndrome|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|Joubert syndrome 12/15, digenic|acrocallosal syndrome|ACS|acrocallosal syndrome, Schinzel type|ACLS|hallux Duplication, postaxial polydactyly, and absence of corpus callosum|Schinzel syndrome 1|Joubert syndrome 12 Orphanet:36|SCTID:715951007|NCIT:C84531|MESH:D055673|ICD10:Q04.0|GARD:0005721|DOID:9250|UMLS:C0796147|OMIM:200990 owl:Class MONDO:0006799 biolink:NamedThing hypothalamic neoplasm A primary or metastatic neoplasm that affects the hypothalamus. tmpte7i6ely_mondo_relaxed.owl tumor of the hypothalamus|neoplasm of hypothalamus|tumor of hypothalamus|hypothalamus neoplasm|hypothalamic neoplasms|neoplasm of the hypothalamus|hypothalamic tumor|hypothalamus tumor NCIT:C3129|DOID:3644|EFO:1000979|SCTID:254968009|MESH:D007029|UMLS:C0020659 owl:Class MONDO:0011707 biolink:NamedThing familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. tmpte7i6ely_mondo_relaxed.owl FDFM|ADCY5-related dyskinesia|dyskinesia, familial, with facial myokymia 2022-05-01 SCTID:763352005|GARD:0012722|MESH:C564676|OMIM:606703|ICD10:G51.4|UMLS:C1847627|Orphanet:324588 This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0031115. MONDO:800028 familial dyskinesia and facial myokymia will be added as the more specific subclass. owl:Class IAO:0000030 biolink:NamedThing information content entity A generically dependent continuant that is about some thing. tmpte7i6ely_mondo_relaxed.owl information content entity owl:Class BFO:0000001 biolink:NamedThing entity tmpte7i6ely_mondo_relaxed.owl Entity entity Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf|BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81 entity An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001]) your body mass index|Julius Caesar|Verdi’s Requiem|the Second World War owl:Class MONDO:0007950 biolink:NamedThing mastocytosis A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. tmpte7i6ely_mondo_relaxed.owl MAST cell disease|mast cell hyperplasia|mastocytosis|Mast cell disease|urticaria pigmentosa UMLS:C0042111|Orphanet:79457|MedDRA:10026891|NCIT:C84269|ICD10:C96.2|OMIM:154800|UMLS:C0024899|GARD:0006987|ICD10:D47.0|SCTID:78745000|Orphanet:98292|DOID:350|ONCOTREE:MCD|ICD10:Q82.2|UMLS:C0334664|MESH:D008415 owl:Class HGNC:6342 biolink:NamedThing KIT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008671 biolink:NamedThing Waardenburg syndrome type 2A Waardenburg syndrome Type 2 caused by mutations in the MITF gene. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome without dystopia canthorum|Waardenburg syndrome type 2 caused by mutation in MITF|Ws2|WS2A|Waardenburg syndrome type IIA|Waardenburg syndrome type 2A|MITF Waardenburg syndrome type 2|Waardenburg syndrome, type 2A MESH:C536464|Orphanet:895|GARD:0005521|Orphanet:3440|OMIM:193510|NCIT:C75011|DOID:0110950 https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a owl:Class HGNC:7105 biolink:NamedThing MITF tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034613 biolink:NamedThing cellular protein localization Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpte7i6ely_mondo_relaxed.owl cellular protein localisation|channel localizer activity owl:Class N6993b96d3a0945e3a2a77e6c2b79707b biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0015918 biolink:NamedThing deep lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03510019 biolink:NamedThing cattle as consumer tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:9913 biolink:NamedThing Bos taurus Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*. tmpte7i6ely_mondo_relaxed.owl domestic cow|dairy cow|cow|Bos taurus Linnaeus, 1758|cattle|Bos primigenius taurus|bovine|Bos bovis|domestic cattle GC_ID:1 NCBITaxon:272461 ncbi_taxonomy owl:Class MONDO:0009380 biolink:NamedThing Dubin-Johnson syndrome Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemia type 2|chronic idiopathic jaundice|conjugated hyperbilirubinemia|hyperbilirubinemia, Dubin-Johnson type|Dubin Johnson syndrome|Sprinz-Nelson syndrome|Dubin-Johnson syndrome|Dubin-Sprinz disease|DJS|hyperbilirubinemia 2 GARD:0002793|MedDRA:10013800|NCIT:C34741|DOID:12308|GARD:0006289|ICD10:E80.6|OMIM:237500|Orphanet:234|MESH:D007566|UMLS:C0022350|SCTID:44553005 owl:Class MONDO:0003337 biolink:NamedThing acute hemorrhagic encephalitis Acute encephalitis that is characterized by bleeding. tmpte7i6ely_mondo_relaxed.owl acute hemorrhagic encephalitis UMLS:C1332149|DOID:5224|NCIT:C35796 owl:Class HGNC:9766 biolink:NamedThing RAB27A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:5002389 biolink:NamedThing manual digit plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012193 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. tmpte7i6ely_mondo_relaxed.owl HNRNPDL autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy limb-girdle type 1G|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G|autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL|LGMD1G OMIM:609115|GARD:0012531|SCTID:719990003|DOID:0110306|ICD10:G71.0|MESH:C563794|Orphanet:55596 owl:Class HGNC:5037 biolink:NamedThing HNRNPDL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013990 biolink:NamedThing pontocerebellar hypoplasia type 8 A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia type 8|PCH8|pontocerebellar hypoplasia due to CHMP1A mutation|pontocerebellar hypoplasia, type 8|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|CHMP1A non-syndromic pontocerebellar hypoplasia UMLS:C3554209|SCTID:718611007|Orphanet:324569|ICD10:Q04.3|DOID:0060277|OMIM:614961 owl:Class HGNC:8740 biolink:NamedThing CHMP1A tmpte7i6ely_mondo_relaxed.owl owl:Class N7f03e815462a4716adbdccd64ecb6b15 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0003277 biolink:NamedThing skeleton of upper jaw tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001709 biolink:NamedThing upper jaw region tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007411 biolink:NamedThing axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. tmpte7i6ely_mondo_relaxed.owl axon growth cone guidance|axon chemotaxis|axon pathfinding owl:Class HGNC:11538 biolink:NamedThing TAF4B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001974 biolink:NamedThing lamina propria of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002469 biolink:NamedThing esophagus mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35442 biolink:NamedThing antiparasitic agent A substance used to treat or prevent parasitic infections. tmpte7i6ely_mondo_relaxed.owl parasiticides|antiparasitics|antiparasitic drugs owl:Class GO:0042446 biolink:NamedThing hormone biosynthetic process The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpte7i6ely_mondo_relaxed.owl hormone anabolism|hormone biosynthesis|hormone formation|hormone synthesis owl:Class CHEBI:67012 biolink:NamedThing L-dopa(1-) A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl (2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate|L-dopa carboxylate owl:Class OBO:CHR_9606-chr16p12.1 biolink:NamedThing 16p12.1 (Human) tmpte7i6ely_mondo_relaxed.owl 28500000 24200000 hg38 owl:Class MONDO:0004291 biolink:NamedThing subglottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland. tmpte7i6ely_mondo_relaxed.owl subglottis squamous cell carcinoma|epidermoid carcinoma of subglottis|subglottic epidermoid carcinoma|squamous cell carcinoma of the subglottis|squamous cell carcinoma of subglottis|epidermoid carcinoma of the subglottis|subglottis epidermoid carcinoma|subglottic squamous cell carcinoma UMLS:C0280326|DOID:7585|NCIT:C8187 owl:Class MONDO:0014098 biolink:NamedThing CIDEC-related familial partial lipodystrophy tmpte7i6ely_mondo_relaxed.owl FPLD5|CIDEC-related FPLD|lipodystrophy, familial partial, type 5|CIDEC-related familial partial lipodystrophy|lipodystrophy, familial partial, associated with Cidec mutations Orphanet:435651|DOID:0070203|ICD10:E88.1|GARD:0013125|OMIM:615238|UMLS:C3808940 owl:Class HGNC:24229 biolink:NamedThing CIDEC tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32487 biolink:NamedThing L-phenylalaninium An optically active form of phenylalaninium having L-configuration. tmpte7i6ely_mondo_relaxed.owl L-phenylalaninium|(1S)-1-carboxy-2-phenylethanaminium|L-phenylalanine cation owl:Class CL:0019001 biolink:NamedThing tracheobronchial serous cell Any serous secreting cell that is part of the tracheobronchial epithelium. tmpte7i6ely_mondo_relaxed.owl serous cell of tracheobronchial tree 2020-05-07 16:03:27+00:00 owl:Class UBERON:0006592 biolink:NamedThing transformed vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100000 biolink:NamedThing MED12-related intellectual disability syndrome An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity. tmpte7i6ely_mondo_relaxed.owl MED12-related intellectual disability syndrome|X-linked syndromic intellectual disability caused by mutation in MED12|MED12 X-linked syndromic intellectual disability 2018-03-09 01:45:27+00:00 owl:Class MONDO:0004250 biolink:NamedThing extrahepatic bile duct papillary adenoma An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern. tmpte7i6ely_mondo_relaxed.owl papillary adenoma of extrahepatic bile duct|papillary adenoma of the extrahepatic bile duct|extrahepatic bile duct papillary adenoma UMLS:C1333510|NCIT:C5849|DOID:7503 owl:Class GO:0009311 biolink:NamedThing oligosaccharide metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. tmpte7i6ely_mondo_relaxed.owl multicellular organismal oligosaccharide metabolic process|oligosaccharide metabolism owl:Class MONDO:0014628 biolink:NamedThing basal ganglia calcification, idiopathic, 6 Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene. tmpte7i6ely_mondo_relaxed.owl IBGC6|basal ganglia calcification, idiopathic, type 6|bilateral striopallidodentate calcinosis caused by mutation in XPR1|XPR1 bilateral striopallidodentate calcinosis|basal ganglia calcification, idiopathic, 6 UMLS:C4225335|OMIM:616413|Orphanet:1980 owl:Class HGNC:12827 biolink:NamedThing XPR1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000118 biolink:NamedThing lung bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002063 biolink:NamedThing sinus venosus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007278 biolink:NamedThing presumptive sinus venosus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011364 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 16 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 16|DFNB16|autosomal recessive nonsyndromic deafness type 16|deafness, autosomal recessive type 16|autosomal recessive nonsyndromic deafness 16|autosomal recessive nonsyndromic deafness caused by mutation in STRC|autosomal recessive deafness 16|STRC autosomal recessive nonsyndromic deafness UMLS:C1863561|OMIM:603720|MESH:C566339|ICD10:H90.3|DOID:0110471 owl:Class HGNC:16035 biolink:NamedThing STRC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019140 biolink:NamedThing acute ackee fruit intoxication Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils. tmpte7i6ely_mondo_relaxed.owl acute intoxication by Blighia sapida|ackee poisoning|Jamaican vomiting sickness|Jamaican vomiting syndrome Orphanet:73423|GARD:0009299|SCTID:49434001|MESH:C537562|ICD10:T62.2|ICD9:988.2 owl:Class GO:0060271 biolink:NamedThing cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpte7i6ely_mondo_relaxed.owl cilium morphogenesis|microtubule-based flagellum assembly|cilium organization|cilium formation|ciliogenesis|cilium biogenesis|cilium assembly owl:Class UBERON:0003631 biolink:NamedThing pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024337 biolink:NamedThing urothelial neoplasm A neoplasm involving a urothelium. tmpte7i6ely_mondo_relaxed.owl tumor of urothelium|urothelium neoplasm|transitional cell neoplasm of the urinary tract|urothelial neoplasm|urothelium tumor|neoplasm of urothelium|urothelium neoplasm (disease) NCIT:C39852|UMLS:C1519840 owl:Class UBERON:0001748 biolink:NamedThing capsule of parathyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007232 biolink:NamedThing autosomal dominant brachyolmia Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. tmpte7i6ely_mondo_relaxed.owl brachyolmia type 3|brachyolmia, autosomal dominant|BCYM3|brachyolmia autosomal dominant|brachyrachia ICD10:Q76.3|Orphanet:93304|OMIM:113500|GARD:0010429|SCTID:717264003 owl:Class GO:0048468 biolink:NamedThing cell development The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpte7i6ely_mondo_relaxed.owl terminal differentiation owl:Class OBO:CHR_9606-chr1q41-q42 biolink:NamedThing 1q41-q42 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class OBO:CHR_9606-chr1q biolink:NamedThing 1q (Human) tmpte7i6ely_mondo_relaxed.owl 248956422 123400000 hg38 owl:Class HsapDv:0000130 biolink:NamedThing 36-year-old human stage Adult stage that refers to an adult who is over 36 and under 37. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007356 biolink:NamedThing Lynch syndrome 1 Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene. tmpte7i6ely_mondo_relaxed.owl LYNCH syndrome I|Lynch 1 syndrome|colon cancer, familial nonpolyposis, type 1|familial non-polyposis colon cancer type 1|hereditary nonpolyposis colorectal cancer type 1|Lynch syndrome 2|colorectal cancer, hereditary nonpolyposis, type 1|COCA1|Hereditary non-polyposis colon cancer type 1|HNPCC1|Lynch syndrome 1|Lynch syndrome type 1 OMIM:120435|MESH:C537261|Orphanet:144|DOID:0070271 owl:Class HGNC:7325 biolink:NamedThing MSH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016856 biolink:NamedThing Mowat-Wilson syndrome due to a ZEB2 point mutation tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease and intellectual disability due to a ZEB2 point mutation UMLS:CN202199|Orphanet:261552|ICD10:Q43.1 owl:Class MONDO:0010906 biolink:NamedThing orofacial cleft 11 Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene. tmpte7i6ely_mondo_relaxed.owl BMP4 orofacial cleft|cleft lip with or without cleft palate, nonsyndromic, 11|congenital Healed cleft lip|orofacial cleft caused by mutation in BMP4|cleft Lip, congenital Healed|OFC11|orofacial cleft type 11|orofacial cleft 11 OMIM:600625|UMLS:C2677434|Orphanet:1991|DOID:0080404 owl:Class MONDO:0021474 biolink:NamedThing benign neoplasm of ear A benign neoplasm that involves the ear. tmpte7i6ely_mondo_relaxed.owl aural neoplasms, benign|benign Ear tumor|benign tumor of the Ear|ear benign neoplasm|benign neoplasm of the Ear|benign tumor of Ear|benign Ear neoplasm UMLS:C0347354|NCIT:C8417|SCTID:255181009 owl:Class CL:0002145 biolink:NamedThing ciliated columnar cell of tracheobronchial tree A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree. tmpte7i6ely_mondo_relaxed.owl FMA:70542 tmeehan 2010-08-24T03:38:29Z cell owl:Class CL:0002209 biolink:NamedThing intermediate epitheliocyte An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells. tmpte7i6ely_mondo_relaxed.owl undifferentiated columnar cell of tracheobronchial tree FMA:69060 tmeehan 2010-09-02T02:53:59Z cell owl:Class CHEBI:16393 biolink:NamedThing sphingosine A sphing-4-enine in which the double bond is trans. tmpte7i6ely_mondo_relaxed.owl trans-4-sphingenine|(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene|D-erythro-sphingosine|(4E)-sphingenine|Sphingosine|D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene|Sphing-4-enine|(E)-D-erythro-4-octadecene-1,3-diol|(E)-2-amino-4-octadecan-1,3-diol|C18 sphingosine|(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol|(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol|(2S,3R,4E)-2-amino-4-octadecene-1,3-diol|Sphingenine|Sph|Sphingoid|Sphingosine d18:1|sphingosin|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol|2-amino-4-octadecene-1,3-diol|(4E)-sphing-4-enine|trans-D-erythro-2-amino-4-octadecene-1,3-diol owl:Class MONDO:0010626 biolink:NamedThing hyper-IgM syndrome type 1 The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. tmpte7i6ely_mondo_relaxed.owl XHIM|hyper IgM immunodeficiency, x-linked|XHIGM|immunodeficiency with hyper-IgM, type 1|hyperimmunoglobulin M syndrome|hyper-IgM syndrome type 1|immunodeficiency with hyper IgM type 1|hyper IgM syndrome|HIGM|IHIS|HIGM1|HIGMX-1|hyper-IgM immunodeficiency, X-linked|hyper-IgM syndrome, X-linked|hyper-IgM syndrome due to CD40 ligand deficiency|hyper-IgM syndrome due to CD40L deficiency|hyper IgM syndrome 1|X-linked hyper-IgM syndrome|hyper-IgM syndrome 1|hyper-IgM syndrome|X-linked hyper IgM syndrome|CD40 ligand deficiency|immunodeficiency 3 OMIM:308230|NCIT:C61244|Orphanet:101088|DOID:0060022|OMIM:606843|Orphanet:183663|GARD:0000073|DOID:6620|ICD10:D80.5|UMLS:C0398689|SCTID:403835002|Wikidata:Q3508611 This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 owl:Class ENVO:01000883 biolink:NamedThing area of developed open space An area of a planet's surface which is primarily covered by cultivated or anthropically maintained vegetation planted for recreation, erosion control, or aesthetic purposes interspersed by constructed or manufactured objects and materials. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013253 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 3 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. tmpte7i6ely_mondo_relaxed.owl BROVCA3|Rad51C hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, 3|breast-ovarian cancer, familial, susceptibility to, type 3|ovarian cancer, familial, susceptibility to, 3|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|susceptibility to familial breast-ovarian cancer 3|RAD51C hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 3 Orphanet:227535|OMIM:613399|Orphanet:145 owl:Class MONDO:0019625 biolink:NamedThing familial thoracic aortic aneurysm and aortic dissection A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. tmpte7i6ely_mondo_relaxed.owl familial thoracic aortic aneurysm|familial aortic dissection|Erdheim disease|annuloaortic ectasia|familial aortic aneurysm|familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm and dissection|Erdheim cystic medial necrosis of aorta|FTAAD|cystic medial necrosis of aorta|familial TAAD OMIM:610168|OMIM:617168|OMIM:615582|Orphanet:91387|UMLS:CN118826|UMLS:C0392775|OMIM:615436|OMIM:614816|GARD:0001654|GARD:0002249|OMIMPS:607086|ICD10:I71.0|Orphanet:229|ICD10:Q87.4|OMIM:607086|OMIM:607087|OMIM:609192|SCTID:45894003|OMIM:132900|SCTID:764965000|OMIM:613780|OMIM:611788|ICD9:447.9|OMIM:616166 owl:Class MONDO:0010308 biolink:NamedThing thrombocytopenia, X-linked, with or without dyserythropoietic anemia An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. tmpte7i6ely_mondo_relaxed.owl XLTDA|thrombocytopenia, X-linked, with or without dyserythropoietic anemia|X-linked thrombocytopenia, with or without dyserythropoietic Anemia UMLS:C3550789|OMIM:300367|NCIT:C136653|Orphanet:67044 owl:Class HGNC:4170 biolink:NamedThing GATA1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000448 biolink:NamedThing epithelial cell of sweat gland An epithelial cell that is part of the sweat gland. tmpte7i6ely_mondo_relaxed.owl FMA:70952 cell owl:Class MONDO:0010723 biolink:NamedThing retinitis pigmentosa 2 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 2|RP2|RP2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in RP2|retinitis pigmentosa type 2 ICD10:H35.5|DOID:0110415|UMLS:C2681923|OMIM:312600|Orphanet:791|MESH:C567523 owl:Class HGNC:10274 biolink:NamedThing RP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100319 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in adults A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia). tmpte7i6ely_mondo_relaxed.owl MIS-A http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010474 biolink:NamedThing linear skin defects with multiple congenital anomalies 2 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene. tmpte7i6ely_mondo_relaxed.owl COX7B microphthalmia with linear skin defects syndrome|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|LSDMCA2|linear skin defects with multiple congenital anomalies type 2|linear skin defects with multiple congenital anomalies 2|microphthalmia with linear skin defects syndrome caused by mutation in COX7B Orphanet:2556|OMIM:300887|UMLS:C3550921 owl:Class HGNC:2291 biolink:NamedThing COX7B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003117 biolink:NamedThing pharyngeal arch 6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044878 biolink:NamedThing adult germ cell tumor A germ cell tumor that occurs during adulthood. tmpte7i6ely_mondo_relaxed.owl germ cell tumor of adults|Adult germ cell tumor|germ cell tumor NCIT:C114777 owl:Class MONDO:0006515 biolink:NamedThing acute pancreatitis An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. tmpte7i6ely_mondo_relaxed.owl pancreatitis necrotizing|acute pancreatitis (disorder) [ambiguous]|pancreatitis, acute|acute necrotizing pancreatitis NCIT:C95437|DOID:2913|SCTID:7881005|ICD10:K85.9|MESH:D019283|EFO:1000652|Wikipedia:Acute_pancreatitis|UMLS:C0001339|ICD9:577.0|HP:0001735|UMLS:C0267941|ICD10:K85 owl:Class MONDO:0005693 biolink:NamedThing cauda equina syndrome Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. tmpte7i6ely_mondo_relaxed.owl cauda equina syndromic disease|syndromic disease of cauda equina ICD9:344.6|EFO:0007196|GARD:0010987|SCTID:192970008|NCIT:C35436|UMLS:C0392548|ICD10:G83.4|DOID:11577 https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome owl:Class UBERON:0012337 biolink:NamedThing cauda equina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014073 biolink:NamedThing dilated cardiomyopathy 1II Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpte7i6ely_mondo_relaxed.owl CMD1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB|cardiomyopathy, dilated, type 1II|dilated cardiomyopathy type 1II|cardiomyopathy, dilated, 1II|CRYAB familial isolated dilated cardiomyopathy DOID:0110450|ICD10:I42.0|UMLS:C3554649|OMIM:615184 owl:Class MONDO:0007091 biolink:NamedThing amelia and terminal transverse hemimelia tmpte7i6ely_mondo_relaxed.owl amelia and terminal transverse hemimelia OMIM:104400|UMLS:C1863014|MESH:C566294 owl:Class HP:0009827 biolink:NamedThing Amelia Congenital absence (aplasia) of one or more limbs. tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001926|MSH:D004480|UMLS:C0002447|SNOMEDCT_US:62588002 doelkens 2009-02-23T05:17:25Z human_phenotype owl:Class CHEBI:16646 biolink:NamedThing carbohydrate Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. tmpte7i6ely_mondo_relaxed.owl glucides|carbohydrates|glucido|Kohlenhydrat|glucidos|saccharidum|glucide|carbohidratos|carbohidrato|saccharide|hydrates de carbone|saccharides|carbohydrate|Kohlenhydrate owl:Class UBERON:0011092 biolink:NamedThing right pelvic girdle region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011090 biolink:NamedThing skeleton of right pelvic girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012689 biolink:NamedThing premature ovarian failure 5 Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. tmpte7i6ely_mondo_relaxed.owl primary ovarian failure caused by mutation in NOBOX|premature ovarian failure 5|NOBOX primary ovarian failure|premature ovarian failure type 5|Pof5 MESH:C566921|UMLS:C1969060|OMIM:611548 owl:Class HGNC:22448 biolink:NamedThing NOBOX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010170 biolink:NamedThing Usher syndrome type 3A Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. tmpte7i6ely_mondo_relaxed.owl CLRN1 Usher syndrome|Usher syndrome type IIIA|USHER syndrome, type IIIA|Usher syndrome caused by mutation in CLRN1|Usher syndrome, type 3A|USH3A|Usher syndrome, type 3|Usher syndrome type 3A ICD10:H35.5|Orphanet:231183|DOID:0110841|UMLS:C1568248|Orphanet:886|OMIM:276902 owl:Class MONDO:0004726 biolink:NamedThing liver inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpte7i6ely_mondo_relaxed.owl liver inflammatory myofibroblastic tumor|inflammatory pseudotumor of the liver|hepatic inflammatory myofibroblastic tumor|liver inflammatory pseudotumor|inflammatory pseudotumor of liver DOID:918|SCTID:717329009|UMLS:C1333967|NCIT:C5858|EFO:1000324 owl:Class MONDO:0014987 biolink:NamedThing Fanconi anemia complementation group U Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia complementation group type U|Fanconi Anemia, complementation group U|Fanconi anemia caused by mutation in XRCC2|XRCC2 Fanconi anemia|Fanconi Anemia, complementation group type U|Fanconi anemia, complementation GROUP U|FANCU UMLS:C4310651|OMIM:617247|DOID:0111085 owl:Class HGNC:12829 biolink:NamedThing XRCC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043862 biolink:NamedThing voice disorders A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. tmpte7i6ely_mondo_relaxed.owl neurologic dysphonia|voice disorder|neurologic voice disorder SCTID:71941009|NCIT:C3441|MESH:D014832 owl:Class GO:0071625 biolink:NamedThing vocalization behavior The behavior in which an organism produces sounds by a mechanism involving its respiratory system. tmpte7i6ely_mondo_relaxed.owl vocalisation behaviour owl:Class CL:0002024 biolink:NamedThing Kit-positive megakaryocyte progenitor cell A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low. tmpte7i6ely_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-26T02:39:15Z cell owl:Class CL:0002006 biolink:NamedThing Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low. tmpte7i6ely_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-13T03:43:12Z cell owl:Class UBERON:0001028 biolink:NamedThing diaphysis of radius tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001423 biolink:NamedThing radius bone tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50634 biolink:NamedThing acetazolamide(1-) tmpte7i6ely_mondo_relaxed.owl [(5-acetamido-1,3,4-thiadiazol-2-yl)sulfonyl]azanide|acetazolamide owl:Class HP:0002904 biolink:NamedThing Hyperbilirubinemia An increased amount of bilirubin in the blood. tmpte7i6ely_mondo_relaxed.owl High blood bilirubin levels SNOMEDCT_US:26165005|UMLS:C0311468 human_phenotype owl:Class HP:0003510 biolink:NamedThing Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. tmpte7i6ely_mondo_relaxed.owl Short stature, extreme|Severe short stature|Short stature, severe|Proportionate dwarfism|Dwarfism MSH:D004392|UMLS:C0013336|SNOMEDCT_US:237837007|SNOMEDCT_US:422065006|SNOMEDCT_US:237836003 The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). HP:0008930|HP:0001516|HP:0008884|HP:0001424|HP:0008867|HP:0008907|HP:0003504|HP:0008920 human_phenotype owl:Class CHEBI:17015 biolink:NamedThing riboflavin D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide. tmpte7i6ely_mondo_relaxed.owl 7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione|riboflavin|riboflavine|5-deoxy-5-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|Beflavine|7,8-dimethyl-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]benzo[g]pteridine-2,4(3H,10H)-dione|Dermadram|Flavin Bb|6,7-dimethyl-9-D-ribitylisoalloxazine|Vitamin B2|Aqua-Flave|vitamin G|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine|Flavaxin|vitamin B2|riboflavinum|Beflavin|riboflavin (vit B2)|lactoflavin|riboflavina|Fiboflavin|7,8-dimethyl-10-ribitylisoalloxazine|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|Flaxain|Bisulase|Hyflavin|E101|vitasan B2 owl:Class CHEBI:77182 biolink:NamedThing food colouring A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199). tmpte7i6ely_mondo_relaxed.owl food coloring|food colorings|food colourings owl:Class MONDO:0019843 biolink:NamedThing pituitary hormone deficiency secondary to a granulomatous disease tmpte7i6ely_mondo_relaxed.owl Orphanet:95617|UMLS:CN206787 owl:Class MONDO:0020679 biolink:NamedThing conductive hearing loss disorder Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. tmpte7i6ely_mondo_relaxed.owl conductive hearing loss|conductive deafness SCTID:44057004|NCIT:C27645 owl:Class OBO:CHR_9606-chr1p3 biolink:NamedThing 1p3 (Human) tmpte7i6ely_mondo_relaxed.owl 84400000 0 hg38 owl:Class MONDO:0013591 biolink:NamedThing epiphyseal dysplasia, multiple, 6 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene. tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, multiple, type 6|EDM6|epiphyseal dysplasia, multiple, 6|multiple epiphyseal dysplasia 6|COL9A1 multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1 OMIM:614135|GARD:0013376|UMLS:C2675767|Orphanet:166002|DOID:0070301 https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6 owl:Class HGNC:2217 biolink:NamedThing COL9A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000981 biolink:NamedThing Histoplasma pericarditis An pericarditis (disease) caused by infection with Histoplasma. tmpte7i6ely_mondo_relaxed.owl Histoplasma pericarditis (disease)|Histoplasma caused pericarditis (disease)|histoplasmosis with pericarditis|acute Histoplasma pericarditis|histoplasmosis pericarditis ICD9:115.93|SCTID:187059008|DOID:10234|UMLS:C0153279 owl:Class NCBITaxon:5036 biolink:NamedThing Histoplasma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011972 biolink:NamedThing medial ligament of ankle joint tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7784 biolink:NamedThing NFIA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007718 biolink:NamedThing hepatic adenomas, familial tmpte7i6ely_mondo_relaxed.owl hepatic adenomas, familial|liver cell adenomas, familial OMIM:142330|DOID:0111366|MESH:C564190|UMLS:C1840646 owl:Class HGNC:11621 biolink:NamedThing HNF1A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016458 biolink:NamedThing esophageal hiatus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007104 biolink:NamedThing amyotrophic lateral sclerosis-parkinsonism-dementia complex tmpte7i6ely_mondo_relaxed.owl PDALS|amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Lytigo-Bodig disease|Lytico-Bodig disease|ALS-pDC|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|Parkinsonism-dementia-ALS complex|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|Guam disease|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1 GARD:0009239|ICD10:G12.2|Orphanet:90020|OMIM:105500 owl:Class UBERON:0010506 biolink:NamedThing meningeal dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007398 biolink:NamedThing ectoderm development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011875 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 11 An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, 11|EIG11|epilepsy, juvenile myoclonic, susceptibility to, 8|generalised epilepsy caused by mutation in CLCN2|CLCN2 generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, type 11|susceptibility to idiopathic generalized epilepsy 11|epilepsy, juvenile absence, susceptibility to, 2 DOID:0111312|Orphanet:307|OMIM:607628 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class HP:0002905 biolink:NamedThing Hyperphosphatemia An abnormally increased phosphate concentration in the blood. tmpte7i6ely_mondo_relaxed.owl High blood phosphate levels UMLS:C0085681|SNOMEDCT_US:20165001|MSH:D054559|UMLS:C0553706 human_phenotype owl:Class UBERON:0015172 biolink:NamedThing endometrial blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2p13.2 biolink:NamedThing 2p13.2 (Human) tmpte7i6ely_mondo_relaxed.owl 73300000 71300000 hg38 owl:Class UBERON:0003975 biolink:NamedThing internal female genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004993 biolink:NamedThing mucosa of sigmoid colon tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000738 biolink:NamedThing exposure to ligand An exposure to ligand. tmpte7i6ely_mondo_relaxed.owl exposure to ligand owl:Class MONDO:0012096 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2L|autosomal dominant axonal Charcot-Marie-Tooth disease type 2L|CMT2L|Charcot-Marie-Tooth disease, axonal, type 2L|HSPB8 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8|Charcot-Marie-Tooth neuropathy, axonal, type 2L|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L|Charcot-Marie-Tooth neuropathy axonal type 2L|autosomal dominant Charcot-Marie-Tooth disease type 2L ICD10:G60.0|GARD:0012432|UMLS:C4304673|Orphanet:99945|UMLS:C1837552|DOID:0110174|SCTID:719513008|OMIM:608673 owl:Class HGNC:30171 biolink:NamedThing HSPB8 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:235 biolink:NamedThing Brucella abortus tmpte7i6ely_mondo_relaxed.owl Bacterium abortus|Brucella melitensis bv. Abortus|Brucella melitensis biovar Abortus GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009644 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type B tmpte7i6ely_mondo_relaxed.owl molybdenum cofactor deficiency complementation group B|molybdenum cofactor deficiency type B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|molybdenum cofactor deficiency, complementation group type B|MOCOD type B|molybdenum cofactor deficiency, complementation group B|sulfite oxidase deficiency due to molybdenum cofactor deficiency type B|MOCODB UMLS:C1854989|MESH:C565373|ICD10:E72.1|PMID:10053004|Orphanet:99732|OMIM:252160|DOID:0111163|Orphanet:308393|Orphanet:833 owl:Class HGNC:7193 biolink:NamedThing MOCS2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005115 biolink:NamedThing metanephric cortical collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013882 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 2 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene. tmpte7i6ely_mondo_relaxed.owl PIGO hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with mental retardation syndrome type 2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO|HPMRS2|glycosylphosphatidylinositol biosynthesis defect 6|hyperphosphatasia with intellectual disability syndrome 2|hyperphosphatasia with mental retardation syndrome 2|hyperphosphatasia with intellectual disability syndrome type 2 OMIM:614749|Orphanet:247262|UMLS:C3553637 owl:Class HGNC:23215 biolink:NamedThing PIGO tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012287 biolink:NamedThing Rathkes pouch epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23354 biolink:NamedThing coenzyme A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. tmpte7i6ely_mondo_relaxed.owl coenzymes|coenzyme owl:Class MONDO:0015566 biolink:NamedThing 2q24 microdeletion syndrome 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. tmpte7i6ely_mondo_relaxed.owl monosomy 2q24|chromosome 2q24 microdeletion syndrome|deletion 2q24|Del(2)(q24)|2q24 deletion ICD10:Q93.5|MESH:C538316|Orphanet:1617|UMLS:CN036809|GARD:0003746|SCTID:719658006 owl:Class OBO:CHR_9606-chr2q24 biolink:NamedThing 2q24 (Human) tmpte7i6ely_mondo_relaxed.owl 168900000 154000000 hg38 owl:Class OBO:CHR_9606-chr16p1 biolink:NamedThing 16p1 (Human) tmpte7i6ely_mondo_relaxed.owl 36800000 0 hg38 owl:Class MONDO:0006264 biolink:NamedThing laryngeal adenoid cystic carcinoma A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases. tmpte7i6ely_mondo_relaxed.owl laryngeal adenoid cystic carcinoma|adenoid cystic carcinoma of larynx|laryngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the larynx DOID:4869|EFO:1000319|UMLS:C1334368|NCIT:C9462 owl:Class MONDO:0008546 biolink:NamedThing thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. tmpte7i6ely_mondo_relaxed.owl Platyspondylic lethal skeletal dysplasia, San Diego type|PLSD San Diego type|thanatophoric dwarfism 1|thanatophoric dysplasia, type I|lethal short-limbed Platyspondylic dwarfism, San Diego type|TD1|thanatophoric dysplasia|type 1 thanatophoric dysplasia|thanatophoric dwarfism|thanatophoric dysplasia type I|thanatophoric dysplasia, type 1|thanatophoric dwarfism type 1 NCIT:C98583|UMLS:C1300256|Orphanet:2655|Orphanet:1860|GARD:0004889|ICD10:Q77.1|UMLS:C1868678|GARD:0009295|OMIM:187600 owl:Class CL:0000329 biolink:NamedThing oxygen accumulating cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0015671 biolink:NamedThing oxygen transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001567 biolink:NamedThing cheek tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012329 biolink:NamedThing keratinized stratified squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011249 biolink:NamedThing appendicular skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016836 biolink:NamedThing 16p13.11 microdeletion syndrome 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. tmpte7i6ely_mondo_relaxed.owl Del(16)(p13.11)|monosomy 16p13.11 ICD10:Q93.5|Orphanet:261236|UMLS:C4304596|SCTID:719577000|UMLS:CN202172 owl:Class OBO:CHR_9606-chr16p13.11 biolink:NamedThing 16p13.11 (Human) tmpte7i6ely_mondo_relaxed.owl 16700000 14700000 hg38 owl:Class UBERON:0007386 biolink:NamedThing pelvic appendage lymph vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036295 biolink:NamedThing renal pelvis/ureter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011892 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 9 Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene. tmpte7i6ely_mondo_relaxed.owl generalised epilepsy caused by mutation in CACNB4|epilepsy, juvenile myoclonic, susceptibility to, 6|EIG9|susceptibility to idiopathic generalized epilepsy 9|epilepsy, idiopathic generalized, susceptibility to, 9|CACNB4 generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, type 9 Orphanet:307|OMIM:607682|DOID:0111323 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class UBERON:0005044 biolink:NamedThing mucosa of pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002424 biolink:NamedThing DN2b thymocyte A DN2 thymocyte that is Kit-low. tmpte7i6ely_mondo_relaxed.owl Observed in mice. tmeehan 2010-10-21T10:12:08Z cell owl:Class CL:0002423 biolink:NamedThing DN2a thymocyte A DN2 thymocyte that is Kit-hi. tmpte7i6ely_mondo_relaxed.owl Observed in mice. tmeehan 2010-10-21T10:12:05Z cell owl:Class MONDO:0002836 biolink:NamedThing urethra transitional cell carcinoma A transitional cell carcinoma that arises from the male or female urethra. tmpte7i6ely_mondo_relaxed.owl urethral urothelial cancer|transitional cell carcinoma of urethra|transitional cell carcinoma of the urethra|urethral transitional cell carcinoma|urethral urothelial carcinoma|urethra transitional cell carcinoma|UCU NCIT:C6166|ONCOTREE:UCU|UMLS:C0863015|DOID:4013 owl:Class MONDO:0006229 biolink:NamedThing gastric small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. tmpte7i6ely_mondo_relaxed.owl gastric small cell carcinoma|small cell carcinoma of stomach|gastric small cell neuroendocrine carcinoma|STSC|Oat cell carcinoma of stomach|small cell carcinoma of the stomach|Oat cell carcinoma of the stomach|stomach small cell carcinoma|gastric Oat cell carcinoma UMLS:C1333788|NCIT:C6764|ONCOTREE:STSC|EFO:1000277|DOID:6552 owl:Class HGNC:30764 biolink:NamedThing TRAIP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004400 biolink:NamedThing bone tissue of epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014575 biolink:NamedThing Singleton-Merten syndrome 2 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. tmpte7i6ely_mondo_relaxed.owl DDX58 singleton-Merten dysplasia|singleton-Merten syndrome 2|SGMRT2|singleton-Merten dysplasia caused by mutation in DDX58|singleton-Merten syndrome type 2 Orphanet:85191|UMLS:C4225380|OMIM:616298 owl:Class HGNC:19102 biolink:NamedThing DDX58 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011817 biolink:NamedThing coronary heart disease, susceptibility to, 1 Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene. tmpte7i6ely_mondo_relaxed.owl coronary artery disease caused by mutation in CX3CR1|CX3CR1 coronary artery disease|coronary heart disease, susceptibility to, type 1|coronary heart disease, susceptibility to, 1|Chds1 UMLS:C1846418|OMIM:607339 owl:Class HGNC:2558 biolink:NamedThing CX3CR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100188 biolink:NamedThing combined ApoA-I and ApoC-III deficiency A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III. tmpte7i6ely_mondo_relaxed.owl ApoA-I and apoC-III deficiency, combined http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:600 biolink:NamedThing APOA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013472 biolink:NamedThing upper esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018211 biolink:NamedThing Balint syndrome Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. tmpte7i6ely_mondo_relaxed.owl psychic paralysis of visual fixation|optic ataxia-gaze apraxia-simultanagnosia syndrome|Balint-Holmes syndrome SCTID:765212008|ICD10:H51.8|Orphanet:363746|UMLS:C0270706 Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. owl:Class UBERON:0010882 biolink:NamedThing limb bone pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001339 biolink:NamedThing portal vein thrombosis The formation of a blood clot (thrombus) in the portal vein. tmpte7i6ely_mondo_relaxed.owl portal vein thrombotic disease|thrombotic disease of portal vein ICD10:I81|SCTID:17920008|ICD9:452|DOID:11695|NCIT:C78565|UMLS:C0155773 owl:Class MONDO:0012371 biolink:NamedThing Noonan syndrome 3 Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. tmpte7i6ely_mondo_relaxed.owl Noonan syndrome type 3|NS3|Noonan syndrome 3|KRAS Noonan syndrome|KRAS gene related Noonan syndrome|Noonan syndrome caused by mutation in KRAS MESH:C537847|DOID:0060581|OMIM:609942|GARD:0009885|UMLS:C1860991|Orphanet:648 https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3 owl:Class HGNC:6407 biolink:NamedThing KRAS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014332 biolink:NamedThing hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency tmpte7i6ely_mondo_relaxed.owl mitochondrial carbonic anhydrase va deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency|carbonic anhydrase VA deficiency, hyperammonemia due to|hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency|CA-VA deficiency|hyperammonemia due to carbonic anhydrase VA deficiency|CA5AD UMLS:C3810404|OMIM:615751|GARD:0013201|SCTID:764456001|ICD10:E74.8|Orphanet:401948 owl:Class HGNC:1377 biolink:NamedThing CA5A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010843 biolink:NamedThing clavicle cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010844 biolink:NamedThing clavicle pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001805 biolink:NamedThing autonomic ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007586 biolink:NamedThing exostoses, multiple, type 2 This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes. tmpte7i6ely_mondo_relaxed.owl Ext2|exostoses, multiple caused by mutation in EXT2|exostoses (Multiple) 2 Gene|EXT2 Gene|exostoses, multiple, type 2|EXT2 exostoses, multiple|exostoses, multiple, type II NCIT:C18252|GARD:0002205|OMIM:133701|Orphanet:321|UMLS:C1851413 https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2 owl:Class HGNC:3513 biolink:NamedThing EXT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018320 biolink:NamedThing primary microcephaly-mild intellectual disability-young-onset diabetes syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:616033|UMLS:CN204971|Orphanet:391408|OMIM:616817|ICD10:Q87.8 owl:Class UBERON:0003113 biolink:NamedThing dermatocranium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004067 biolink:NamedThing lateral nasal prominence tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014777 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene. tmpte7i6ely_mondo_relaxed.owl IHPRF2|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80|hypotonia, infantile, with psychomotor retardation and characteristic facies type 2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2 UMLS:C4225203|OMIM:616801 owl:Class HGNC:26582 biolink:NamedThing UNC80 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000912 biolink:NamedThing mucus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008710 biolink:NamedThing RAB23-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. tmpte7i6ely_mondo_relaxed.owl Carpenter syndrome 1|acrocephalopolysyndactyly type 2|CRPT1|RAB23 Carpenter syndrome|Carpenter syndrome type 1|RAB23-related Carpenter syndrome|ACPS 2|Carpenter syndrome caused by mutation in RAB23|CARPENTER syndrome 1|Carpenter syndrome SCTID:205813009|UMLS:C1275078|Orphanet:65759|OMIM:201000 owl:Class HGNC:14263 biolink:NamedThing RAB23 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011582 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 1 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene. tmpte7i6ely_mondo_relaxed.owl NFU1 deficiency|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|Mmds|multiple mitochondrial dysfunctions syndrome 1|multiple mitochondrial dysfunctions syndrome type 1|MMDS1 ICD10:E88.8|Orphanet:401869|DOID:0080133|Orphanet:289573|UMLS:CN226135|OMIM:605711|UMLS:C3276432 owl:Class HGNC:16287 biolink:NamedThing NFU1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002495 biolink:NamedThing long bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001575 biolink:NamedThing chronic gonococcal salpingitis Chronic form of gonococcal salpingitis. tmpte7i6ely_mondo_relaxed.owl gonococcal salpingitis, chronic|gonococcal salpingitis ICD9:098.37|UMLS:C0153208|DOID:12718|SCTID:53529004 owl:Class HGNC:1718 biolink:NamedThing CDC14A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016577 biolink:NamedThing biliary atresia with splenic malformation syndrome Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. tmpte7i6ely_mondo_relaxed.owl BASM syndrome Orphanet:244283|UMLS:C4274029|UMLS:CN201730|ICD10:Q44.2|SCTID:717156002 owl:Class MONDO:0008867 biolink:NamedThing biliary atresia A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. tmpte7i6ely_mondo_relaxed.owl atresia of bile duct|non-syndromic biliary atresia|congenital biliary atresia|atresia of bile ducts|isolated atresia of bile ducts|biliary atresia, congenital|isolated biliary atresia OMIM:210500|MedDRA:10003650|ICD9:751.61|UMLS:C0005411|Orphanet:30391|DOID:13608|GARD:0012010|ICD10:Q44.2|MESH:D001656|NCIT:C34421|SCTID:77480004 https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia owl:Class MONDO:0010848 biolink:NamedThing spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 5|spinocerebellar ataxia 5|SCA5 UMLS:C0752123|Orphanet:98766|DOID:0050882|OMIM:600224|GARD:0004953|ICD10:G11.2|SCTID:719302009 owl:Class HGNC:11276 biolink:NamedThing SPTBN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001113 biolink:NamedThing Fiedler's myocarditis tmpte7i6ely_mondo_relaxed.owl fiedler myocarditis|idiopathic myocarditis|isolated (Fiedler's) myocarditis DOID:10778|UMLS:C0155689|ICD10:I40.1|SCTID:266238009|ICD9:422.91 owl:Class MONDO:0004441 biolink:NamedThing childhood ovarian embryonal carcinoma An embryonal carcinoma that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl pediatric embryonal carcinoma of ovary|pediatric ovarian embryonal carcinoma|ovarian embryonal carcinoma of childhood|childhood embryonal carcinoma of the ovary|pediatric embryonal carcinoma of the ovary|childhood embryonal carcinoma of ovary DOID:8036|UMLS:C1332989|NCIT:C6546 owl:Class MONDO:0010823 biolink:NamedThing rhizomelic chondrodysplasia punctata type 3 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene. tmpte7i6ely_mondo_relaxed.owl alkyldihydroxyacetonephosphate synthase deficiency|rhizomelic chondrodysplasia punctata, type 3|RCDP3|alkylglycerone-phosphate synthase deficiency|AGPS rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata type 3|AGPS deficiency|rhizomelic chondrodysplasia punctata caused by mutation in AGPS Orphanet:309803|GARD:0009682|ICD10:Q77.3|Orphanet:177|MESH:C537608|UMLS:C1838612|OMIM:600121|DOID:0110853 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3 owl:Class HGNC:327 biolink:NamedThing AGPS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004216 biolink:NamedThing pineal region germinoma A germinoma that arises from the pineal gland. tmpte7i6ely_mondo_relaxed.owl germinoma|pineal germinoma DOID:7428|GARD:0002005|Orphanet:91352|UMLS:C0854912|MEDGEN:208928|NCIT:C8712 Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency owl:Class MONDO:0019833 biolink:NamedThing pituitary hormone deficiency from tumoral origin tmpte7i6ely_mondo_relaxed.owl UMLS:CN206780|Orphanet:95503 Editor note: Orphanet classifies many things under here that violate the true-path rule; for example menigioma owl:Class MONDO:0006609 biolink:NamedThing seborrheic infantile dermatitis Excessive shedding of dry scaly material from the scalp in humans. tmpte7i6ely_mondo_relaxed.owl generalized seborrheic dermatitis of infants|seborrhea capitis|Seborrhoea capitis|scalp seborrheic dermatitis (disease)|cradle cap|seborrhea sicca|infantile seborrhoeic dermatitis|seborrheic dermatitis (disease) of scalp|complement 5 dysfunction|infantile seborrheic dermatitis|Seborrhoeic dermatitis of scalp|Seborrhoeic eczema of scalp|pityriasis capitis ICD10:L21.0|EFO:1000765|ICD9:690.11|UMLS:C0221244|DOID:8941 owl:Class UBERON:0001736 biolink:NamedThing submandibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:685953 biolink:NamedThing Philophthalmus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007681 biolink:NamedThing goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene. tmpte7i6ely_mondo_relaxed.owl multinodular goiter, adolescent|familial MNG|simple goiter|FMNG|goiter, nontoxic, with Intrathyroidal calcification|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors|euthyroid goiter|MNG1 UMLS:CN202615|ICD10:E04.2|MESH:C562732|Orphanet:276399|OMIM:138800|ICD9:240.0|SCTID:267369002 owl:Class HGNC:17098 biolink:NamedThing DICER1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032913 biolink:NamedThing congenital heart defects, multiple types, 7 tmpte7i6ely_mondo_relaxed.owl CHTD7|CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM:618780 owl:Class MONDO:0003984 biolink:NamedThing internal auditory canal lipoma A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures. tmpte7i6ely_mondo_relaxed.owl internal Ear lipoma|lipoma of internal acoustic meatus|lipoma of the internal auditory canal|lipoma of internal auditory canal|internal acoustic meatus lipoma|inner Ear lipoma DOID:6752|UMLS:C1334226|NCIT:C5452 owl:Class MONDO:0004585 biolink:NamedThing polyhydramnios An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. tmpte7i6ely_mondo_relaxed.owl polyhydramnios (disease)|polyhydramnios polyhydramnios (disease) HP:0001561|NCIT:C92848|ICD10:O40|DOID:8488|MESH:D006831|ICD9:657.0|ICD9:657|ICD9:657.00|SCTID:86203003 May be obsoleted as it represents a finding owl:Class UBERON:0000301 biolink:NamedThing amniotic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006640 biolink:NamedThing adrenal gland hyperfunction Excess production of adrenal cortex hormones. tmpte7i6ely_mondo_relaxed.owl adrenal gland hyperfunction|hyperfunction, adrenal gland|hyperadrenalism|hyperadrenocorticism|hyperfunction, adrenocortical|hypercortisolism|hypercortisolemia|adrenocortical hyperfunction|hypercorticism|disorder of corticoadrenal overactivity SCTID:275437005|UMLS:C0001622|HP:0003118|NCIT:C113208|DOID:3947|EFO:1000797|GARD:0008252|MESH:D000308|UMLS:CN205287|ICD9:255.3 https://github.com/monarch-initiative/mondo/issues/3376 owl:Class HP:0002717 biolink:NamedThing Adrenal overactivity tmpte7i6ely_mondo_relaxed.owl UMLS:C4025685 Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. peter 2008-02-25T10:41:00Z human_phenotype owl:Class HGNC:3666 biolink:NamedThing FGF10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005792 biolink:NamedThing herpes simplex virus gingivostomatitis Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. tmpte7i6ely_mondo_relaxed.owl Simplexvirus caused stomatitis|herpetic Stomatitides|Gingivostomatitis, herpetic|Simplexvirus stomatitis|herpetic stomatitis|simplex, oral Herpes|oral Herpes simplex|herpetic Gingivostomatitis|Herpes simplex, oral|Gingivostomatitides, herpetic|herpetic Gingivostomatitides|Stomatitides, herpetic SCTID:57920007|EFO:0007307|MESH:D013283 owl:Class CHEBI:61469 biolink:NamedThing polyanionic polymer A polymer, composed of polyanion macromolecules. tmpte7i6ely_mondo_relaxed.owl polyanion|polyanions owl:Class CHEBI:53309 biolink:NamedThing polyanionic macromolecule A polymer carrying multiple negative charges. tmpte7i6ely_mondo_relaxed.owl polyanion|polyanions owl:Class HGNC:23230 biolink:NamedThing UBA5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001206 biolink:NamedThing serosa of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014274 biolink:NamedThing L-ferritin deficiency tmpte7i6ely_mondo_relaxed.owl L-ferritin deficiency|LFTD UMLS:C3810090|OMIM:615604|Orphanet:440731 owl:Class HGNC:3999 biolink:NamedThing FTL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010467 biolink:NamedThing Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Xq27.3-q28 microduplication syndrome|trisomy Xq27.3-q28|dup(X)(q27.3q28)|chromosome Xq27.3-q28 DUPLICATION syndrome|trisomy Xq27.3q28 UMLS:C3275521|OMIM:300869|ICD10:Q99.8|Orphanet:261483 owl:Class OBO:CHR_9606-chrXq27.3-q28 biolink:NamedThing Xq27.3-q28 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0033682 biolink:NamedThing skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:508533 owl:Class MONDO:0006966 biolink:NamedThing secondary Parkinson disease A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication. tmpte7i6ely_mondo_relaxed.owl symptomatic parkinsonism|secondary parkinsonism, unspecified|disorder presenting primarily with parkinsonism|secondary Parkinsonism|secondary parkinsonism (disorder) [ambiguous] ICD10:G21|ICD9:332.1|MESH:D010302|EFO:1001175|SCTID:265377002|UMLS:C0030569|DOID:13548|ICD10:G21.9|NCIT:C34899 owl:Class HP:0001300 biolink:NamedThing Parkinsonism Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. tmpte7i6ely_mondo_relaxed.owl Parkinsonian disease SNOMEDCT_US:32798002|MSH:D020734|UMLS:C0242422 human_phenotype owl:Class MONDO:0003840 biolink:NamedThing epicardium lipoma A rare benign adipose tissue neoplasm of the epicardium of the heart. tmpte7i6ely_mondo_relaxed.owl epicardial lipoma|lipoma of epicardium|lipoma of the epicardium|epicardium lipoma UMLS:C1333411|DOID:6284|NCIT:C6742 owl:Class CHEBI:33720 biolink:NamedThing carbohydrate acid tmpte7i6ely_mondo_relaxed.owl carbohydrate acids|carbohydrate acid owl:Class CHEBI:33721 biolink:NamedThing carbohydrate acid anion tmpte7i6ely_mondo_relaxed.owl carbohydrate acid anion|carbohydrate acid anions owl:Class UBERON:0001438 biolink:NamedThing metaphysis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006861 biolink:NamedThing diaphysis proper tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011974 biolink:NamedThing retinitis pigmentosa 7 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. tmpte7i6ely_mondo_relaxed.owl RP 7|retinitis pigmentosa 7, digenic|RP7|retinitis pigmentosa type 7|Leber congenital amaurosis 18|retinitis pigmentosa 7 OMIM:608133|DOID:0110383|UMLS:C1842475|ICD10:H35.5|GARD:0010386|Orphanet:791 https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7 owl:Class HGNC:9942 biolink:NamedThing PRPH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043765 biolink:NamedThing presbycusis Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. tmpte7i6ely_mondo_relaxed.owl presbycusis|Presbycuses|presbyacusia|age-related hearing loss|senile deafness SCTID:49526009|NCIT:C116367|MESH:D011304 owl:Class UBERON:0005945 biolink:NamedThing neurocranial trabecula tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33405 biolink:NamedThing hydracid A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpte7i6ely_mondo_relaxed.owl hydracid|hydracids owl:Class MONDO:0011280 biolink:NamedThing schizophrenia 6 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21. tmpte7i6ely_mondo_relaxed.owl SCZD6|schizophrenia susceptibility locus, chromosome 8P-related|schizophrenia 6 UMLS:C1864275|OMIM:603013|DOID:0070082 owl:Class HGNC:7997 biolink:NamedThing NRG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008856 biolink:NamedThing immunodeficiency 27A tmpte7i6ely_mondo_relaxed.owl IMD27A|immunodeficiency 27A|immunodeficiency type 27A|mycobacterial disease, Mendelian susceptibility to|atypical mycobacterial infection, disseminated|atypical mycobacterial infection, familial disseminated|immunodeficiency 27A, Mycobacteriosis, autosomal recessive|atypical mycobacteriosis, familial|IFNGR1 deficiency, autosomal recessive 2022-05-01 OMIM:209950|GARD:0009185|Orphanet:319569|UMLS:C4011949|Orphanet:99898|UMLS:C3266863 Reason: duplicate. This will be merged with MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency owl:Class HGNC:5439 biolink:NamedThing IFNGR1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012246 biolink:NamedThing thyroid follicular lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005305 biolink:NamedThing thyroid follicle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11397 biolink:NamedThing PLK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002710 biolink:NamedThing infiltrating angiolipoma An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. tmpte7i6ely_mondo_relaxed.owl infiltrating angiolipoma|angiolipoma, infiltrating|angiolipoma, infiltrating (morphologic abnormality) NCIT:C7449|DOID:3615|UMLS:C1305256 owl:Class PATO:0002129 biolink:NamedThing neoplastic, invasive A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010459 biolink:NamedThing amyotrophic lateral sclerosis type 15 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|amyotrophic lateral sclerosis type 15|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|ALS15|amyotrophic lateral sclerosis caused by mutation in UBQLN2|amyotrophic lateral sclerosis 15|UBQLN2 amyotrophic lateral sclerosis UMLS:C3275459|Orphanet:803|DOID:0060206|OMIM:300857 owl:Class HGNC:12509 biolink:NamedThing UBQLN2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004462 biolink:NamedThing musculature of body wall tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005753 biolink:NamedThing epiglottitis Inflammation of the epiglottis. tmpte7i6ely_mondo_relaxed.owl supraglottitis|inflammation of mucosa of epiglottis|acute epiglottitis and supraglottitis|mucosa of epiglottis inflammation EFO:0007261|ICD9:464.3|UMLS:C0014541|DOID:9398|NCIT:C116007|SCTID:80384002|ICD10:J05.1|SCTID:29608009|MESH:D004826|ICD10:J05.10 owl:Class UBERON:0004982 biolink:NamedThing mucosa of epiglottis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004221 biolink:NamedThing intestine smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000160 biolink:NamedThing intestine tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045904 biolink:NamedThing negative regulation of translational termination Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. tmpte7i6ely_mondo_relaxed.owl down-regulation of translational termination|downregulation of translational termination|down regulation of translational termination|inhibition of translational termination owl:Class GO:0006415 biolink:NamedThing translational termination The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). tmpte7i6ely_mondo_relaxed.owl translational complex disassembly|protein synthesis termination|translation termination owl:Class MONDO:0005821 biolink:NamedThing late congenital syphilis tmpte7i6ely_mondo_relaxed.owl juvenile syphilis|late congenital syphilis (2 years or more)|late congenital syphilis, symptomatic (2 years or more)|late congenital syphilis|juvenile neurosyphilis ICD9:090.7|ICD9:090.5|ICD10:A50.40|ICD10:A50.4|SCTID:82323002|ICD10:A50.5|ICD10:A50.59|ICD9:090.4|EFO:0007339|DOID:10039|ICD9:090.40 owl:Class HP:0000648 biolink:NamedThing Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. tmpte7i6ely_mondo_relaxed.owl Optic nerve atrophy|Optic-nerve degeneration MSH:D009896|UMLS:C0029124|SNOMEDCT_US:76976005 The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. HP:0007855|HP:0007751 human_phenotype owl:Class MONDO:0002361 biolink:NamedThing transverse colon cancer A malignant neoplasm involving the transverse colon. tmpte7i6ely_mondo_relaxed.owl transverse colon cancer|malignant neoplasm of transverse colon|malignant transverse colon neoplasm|malignant tumor of transverse colon|cancer of transverse colon|Ca transverse colon SCTID:363408006|UMLS:C0153434|ICD9:153.1|ICD10:C18.4|DOID:261 owl:Class UBERON:0001157 biolink:NamedThing transverse colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005895 biolink:NamedThing paragonimiasis A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. tmpte7i6ely_mondo_relaxed.owl Paragonimus westermani infection|infection by Paragonimus|Paragonimus westermani disease or disorder|lung fluke infection|Paragonimus westermani infectious disease|lung fluke disease|pulmonary paragonimiasis|Paragonimus westermani caused disease or disorder ICD10:B66.4|EFO:0007418|GARD:0009815|DOID:10699|MESH:D010237|ICD9:121.2|NCIT:C84995|UMLS:C0030424|SCTID:30369007 https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis owl:Class NCBITaxon:34504 biolink:NamedThing Paragonimus westermani tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:42231 biolink:NamedThing Mansonella perstans tmpte7i6ely_mondo_relaxed.owl Dipetalonema perstans GC_ID:1 ncbi_taxonomy owl:Class GO:0051356 biolink:NamedThing visual perception involved in equilibrioception The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity. tmpte7i6ely_mondo_relaxed.owl perception of orientation with respect to gravity by visual perception|equilibrioception by visual perception|visual perception during equilibrioception owl:Class HP:0001289 biolink:NamedThing Confusion Lack of clarity and coherence of thought, perception, understanding, or action. tmpte7i6ely_mondo_relaxed.owl Disorientation|Easily confused|Mental disorientation|Confusion UMLS:C0009676|MSH:D003221|SNOMEDCT_US:286933003 HP:0000731 human_phenotype owl:Class UBERON:0002401 biolink:NamedThing visceral pleura tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000977 biolink:NamedThing pleura tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000893 biolink:NamedThing kidney venous blood vessel cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001031 cell owl:Class CL:0002001 biolink:NamedThing CD34-positive, CD38-positive granulocyte monocyte progenitor A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative. tmpte7i6ely_mondo_relaxed.owl Markers are for human cells. According to different research groups, CD45RA is present or absent on this cell population. tmeehan 2010-01-13T03:19:22Z cell owl:Class CL:0001026 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. tmpte7i6ely_mondo_relaxed.owl CD71-positive common myeloid precursor Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). cell owl:Class UBERON:0003850 biolink:NamedThing telencephalon neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001893 biolink:NamedThing telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014232 biolink:NamedThing craniosynostosis 5, susceptibility to Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene. tmpte7i6ely_mondo_relaxed.owl ALX4 craniosynostosis|susceptibility to craniosynostosis 5|CRS5|craniosynostosis 5, susceptibility to|craniosynostosis caused by mutation in ALX4 OMIM:615529|Orphanet:35093 owl:Class MONDO:0014169 biolink:NamedThing dyschromatosis universalis hereditaria 3 Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene. tmpte7i6ely_mondo_relaxed.owl ABCB6 dyschromatosis universalis hereditaria|DUH3|dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria type 3|dyschromatosis universalis hereditaria 3 Orphanet:241|OMIM:615402|UMLS:C3809394 owl:Class MONDO:0008748 biolink:NamedThing Hermansky-Pudlak syndrome 1 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. tmpte7i6ely_mondo_relaxed.owl albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells|HPS1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome caused by mutation in HPS1|Delta storage pool disease|HPS1|Hermansky-Pudlak syndrome type 1 Orphanet:79430|Orphanet:231500|DOID:0060539|OMIM:203300|UMLS:C2931875|MESH:C538539|NCIT:C150367 owl:Class HGNC:5163 biolink:NamedThing HPS1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:948 biolink:NamedThing Anaplasma phagocytophilum tmpte7i6ely_mondo_relaxed.owl Ehrlichia phagocytophila|Cytoecetes phagocytophila|Rickettsia phagocytophila|HGE agent|agent of human granulocytic ehrlichiosis|Rickettsia phagocytophila ovis|human granulocytic Ehrlichia|Ehrlichia sp. 'HGE agent'|Anaplasma phagocytophila|Ehrlichia equi|Cytoecetes bovis GC_ID:11|PMID:8195363|PMID:1115421|PMID:12215262|PMID:11760958 NCBITaxon:59888|NCBITaxon:75115|NCBITaxon:946|NCBITaxon:75053 ncbi_taxonomy owl:Class MONDO:0021066 biolink:NamedThing urinary system neoplasm A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 tmpte7i6ely_mondo_relaxed.owl neoplasm of the urinary system|tumor of the urinary system|neoplasm of urinary tract|urinary system tumor|renal system tumor|renal system neoplasm (disease)|urinary tract neoplasm|tumor of urinary system|tumor of renal system|renal system neoplasm|neoplasm of the urinary tract|urinary system neoplasm|urinary tract tumor|tumor of the urinary tract|neoplasm of renal system|neoplasm of urinary system|tumor of urinary tract NCIT:C3431|ICD9:239.5|ONCOTREE:BLADDER|SCTID:126879004 Editor note: note the ONCOTREE class is more general than just bladder owl:Class MONDO:0001403 biolink:NamedThing labium majus cancer A malignant neoplasm involving the labium majora. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the labia majora|malignant neoplasm of labia majora|malignant tumor of labia majora|malignant labia majora neoplasm|cancer of labium majora|malignant neoplasm of labium majora|malignant labium majora neoplasm|malignant labia majora tumor|malignant neoplasm of the labia majora|labium majora cancer ICD9:184.1|UMLS:C0496814|NCIT:C7638|ICD10:C51.0|SCTID:363446004|DOID:11905 owl:Class MONDO:0005664 biolink:NamedThing bartonellosis An infectious disease produced by bacteria of the genus Bartonella. tmpte7i6ely_mondo_relaxed.owl Bartonella caused disease or disorder|Rochalimaea infections|Rochalimaea infection|Bartonella disease or disorder|Rochalimaea infection (disorder)|Bartonella infectious disease|Bartonella infection|bartonelliasis NCIT:C84586|SCTID:266123003|DOID:11102|EFO:0007166|ICD10:A44.9|ICD10:A44|ICD9:088.0|MESH:D001474|UMLS:C0004771 owl:Class HP:0003401 biolink:NamedThing Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. tmpte7i6ely_mondo_relaxed.owl Tingling|Paresthesias|Pins and needles feeling SNOMEDCT_US:91019004|UMLS:C0030554|MSH:D010292 HP:0002082 human_phenotype owl:Class UBERON:0017261 biolink:NamedThing intertarsal sesamoid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009879 biolink:NamedThing tarsal skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16517 biolink:NamedThing TMPRSS6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032224 biolink:NamedThing positive regulation of synaptic transmission, cholinergic Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpte7i6ely_mondo_relaxed.owl activation of synaptic transmission, cholinergic|upregulation of synaptic transmission, cholinergic|up-regulation of synaptic transmission, cholinergic|stimulation of synaptic transmission, cholinergic|up regulation of synaptic transmission, cholinergic owl:Class GO:0007271 biolink:NamedThing synaptic transmission, cholinergic The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpte7i6ely_mondo_relaxed.owl cholinergic synaptic transmission owl:Class MONDO:0006645 biolink:NamedThing alcoholic polyneuropathy Any disease affecting more than one nerve. tmpte7i6ely_mondo_relaxed.owl alcohol-related polyneuropathy|alcoholic neuropathy EFO:1000803|UMLS:C0085677|ICD10:G62.1|SCTID:7916009|NCIT:C26926|MESH:D020269|ICD9:357.5|DOID:14183 owl:Class UBERON:0006909 biolink:NamedThing lumen of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001555 biolink:NamedThing digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012990 biolink:NamedThing Leber congenital amaurosis 13 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 53|Leber congenital amaurosis 13|Leber congenital amaurosis type 13|LCA13|Leber congenital amaurosis caused by mutation in RDH12|RDH12 Leber congenital amaurosis OMIM:612712|MESH:C567197|ICD10:H35.5|DOID:0110330|UMLS:C2675186|GARD:0010882 https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13 owl:Class HGNC:19977 biolink:NamedThing RDH12 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000332 biolink:NamedThing serous cell of epithelium of terminal bronchiole A serous secreting cell that is part of the epithelium of terminal bronchiole. tmpte7i6ely_mondo_relaxed.owl FMA:263082 cell owl:Class UBERON:0001958 biolink:NamedThing terminal bronchiole epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012464 biolink:NamedThing cloacal vent tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000377 biolink:NamedThing maxillary nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001467 biolink:NamedThing shoulder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009694 biolink:NamedThing myeloperoxidase deficiency tmpte7i6ely_mondo_relaxed.owl MPO deficiency|MPOD|myeloperoxidase deficiency UMLS:C0398595|ICD10:E80.3|ICD9:288.8|MESH:C562864|GARD:0003868|OMIM:254600|SCTID:234433009|Orphanet:2587 https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency owl:Class HGNC:7218 biolink:NamedThing MPO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008399 biolink:NamedThing sarcoidosis, susceptibility to, 1 Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene. tmpte7i6ely_mondo_relaxed.owl sarcoidosis|sarcoidosis, susceptibility to, type 1|HLA-DRB1 sarcoidosis|SS1|sarcoidosis, susceptibility to, 1|susceptibility to sarcoidosis 1|sarcoidosis caused by mutation in HLA-DRB1|Boeck sarcoid OMIM:181000|Orphanet:797|ICD9:135 owl:Class CL:0000845 biolink:NamedThing marginal zone B cell of spleen A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high. tmpte7i6ely_mondo_relaxed.owl marginal zone of spleen B cell|MZ B-cell|marginal zone B-lymphocyte|marginal zone B lymphocyte|marginal zone B-cell|B cell of marginal zone of spleen|MZ B cell|MZ B-lymphocyte|marginal zone B cell|MZ B lymphocyte MZ B cells are reportedly CD1-positive (mice), CD20-positive, CD48-positive, CD84-positive, CD150-positive, CD229-positive, and CD352-positive. cell owl:Class GO:0042742 biolink:NamedThing defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. tmpte7i6ely_mondo_relaxed.owl defence response to bacteria|defense response to bacterium, incompatible interaction|defence response to bacterium|resistance response to pathogenic bacteria|resistance response to pathogenic bacterium|antibacterial peptide activity|defense response to bacteria owl:Class MONDO:0012648 biolink:NamedThing isobutyryl-CoA dehydrogenase deficiency An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). tmpte7i6ely_mondo_relaxed.owl isobutyric aciduria|IBD deficiency|Acad8 deficiency|isobutyryl-CoA dehydrogenase deficiency|acyl-Coa dehydrogenase family, member 8, deficiency of|acyl-CoaA dehydrogenase family, member 8, deficiency of Orphanet:79159|OMIM:611283|GARD:0010223|ICD10:E71.1|MESH:C535541|NCIT:C129975|UMLS:C1969809 https://github.com/monarch-initiative/mondo/issues/324|https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency owl:Class HGNC:87 biolink:NamedThing ACAD8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011112 biolink:NamedThing Wilms tumor 5 Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. tmpte7i6ely_mondo_relaxed.owl Wilms tumor, susceptibility to|WT5|Wilms tumor type 5|Wilms tumor 5|Wilms tumor and radial bilateral aplasia|bilateral radial aplasia with Wilms tumor Orphanet:654|GARD:0005578|OMIM:601583|MESH:C536707 owl:Class HGNC:21694 biolink:NamedThing POU6F2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010879 biolink:NamedThing CODAS syndrome Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl cerebro-oculo-dento-auriculo-skeletal syndrome|CODAS syndrome|cerebral, ocular, dental, auricular, and skeletal syndrome|cerebrooculodentoauriculoskeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome DOID:0111274|SCTID:717772000|MESH:C536434|GARD:0001418|NCIT:C126744|UMLS:C1838180|ICD10:Q87.8|OMIM:600373|Orphanet:1458 https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome owl:Class HGNC:9479 biolink:NamedThing LONP1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030886 biolink:NamedThing negative regulation of myeloid dendritic cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. tmpte7i6ely_mondo_relaxed.owl downregulation of myeloid dendritic cell activation|down-regulation of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation owl:Class MONDO:0016996 biolink:NamedThing NK-cell enteropathy Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. tmpte7i6ely_mondo_relaxed.owl Orphanet:263665|SCTID:723496007|ICD10:K63.8|UMLS:C4509932 Editor note: TODO - complete axioms owl:Class MONDO:0011783 biolink:NamedThing ALG12-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33). tmpte7i6ely_mondo_relaxed.owl ALG12-CDG (CDG-Ig)|ALG12-congenital disorder of glycosylation|congenital disorder of glycosylation type 1g|CDGIg|CDG1G|CDG Ig|CDG 1G|CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type Ig|congenital disorder of glycosylation, type Ig|CDG syndrome type Ig|ALG12-CDG OMIM:607143|DOID:0080559|NCIT:C126873|UMLS:C2931001|GARD:0009833|SCTID:711155008|MESH:C535745|ICD9:271.8|ICD10:E77.8|Orphanet:79324 owl:Class HGNC:19358 biolink:NamedThing ALG12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018774 biolink:NamedThing erythrokeratodermia-cardiomyopathy syndrome A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. tmpte7i6ely_mondo_relaxed.owl EKC syndrome Orphanet:476096|UMLS:CN776912 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0014446 biolink:NamedThing Bardet-Biedl syndrome 18 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome 18|BBIP1 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 18|BBS18|Bardet-Biedl syndrome caused by mutation in BBIP1 OMIM:615995|ICD10:Q87.89|DOID:0110140|UMLS:C3806174 owl:Class HGNC:28093 biolink:NamedThing BBIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013504 biolink:NamedThing spermatogenic failure 8 Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene. tmpte7i6ely_mondo_relaxed.owl azoospermia caused by mutation in NR5A1|SPGF8|NR5A1 azoospermia|spermatogenic failure type 8|spermatogenic failure 8 Orphanet:399805|UMLS:C3151406|OMIM:613957|DOID:0070169 owl:Class HGNC:7983 biolink:NamedThing NR5A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014352 biolink:NamedThing abdominal obesity-metabolic syndrome 3 Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. tmpte7i6ely_mondo_relaxed.owl abdominal obesity-metabolic syndrome 3|abdominal obesity-metabolic syndrome type 3|metabolic syndrome caused by mutation in DYRK1B|DYRK1B metabolic syndrome|central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease|AOMS3 UMLS:C4014361|DOID:0060612|OMIM:615812 owl:Class HGNC:3092 biolink:NamedThing DYRK1B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9071 biolink:NamedThing PLG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013197 biolink:NamedThing hypertrophic cardiomyopathy 14 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy familial hypertrophic 14|hypertrophic cardiomyopathy type 14|MYH6 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYH6|CMH14|cardiomyopathy, familial hypertrophic, 14|cardiomyopathy, familial hypertrophic, type 14 OMIM:613251|DOID:0110320|UMLS:C2750467|MESH:C567684 owl:Class MONDO:0019569 biolink:NamedThing Cockayne syndrome type 1 Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. tmpte7i6ely_mondo_relaxed.owl ERCC8 Cockayne syndrome|Cockayne syndrome type a|Cockayne syndrome type I|Cockayne syndrome classical|Cockayne syndrome A|Cockayne syndrome classic form|Cockayne syndrome type A|Cockayne syndrome caused by mutation in ERCC8|Cockayne syndrome type 1|CSA OMIM:216400|UMLS:C0751039|Orphanet:90322|NCIT:C135725|Orphanet:90321|Orphanet:90324|Orphanet:191|OMIM:133540|ICD10:Q87.8|GARD:0001415 https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i owl:Class UBERON:0035130 biolink:NamedThing auditory ossicle endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045647 biolink:NamedThing negative regulation of erythrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. tmpte7i6ely_mondo_relaxed.owl downregulation of erythrocyte differentiation|down regulation of erythrocyte differentiation|down-regulation of erythrocyte differentiation|negative regulation of RBC differentiation|negative regulation of red blood cell differentiation|inhibition of erythrocyte differentiation owl:Class UBERON:0007845 biolink:NamedThing regular connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:30527 biolink:NamedThing flavin A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position. tmpte7i6ely_mondo_relaxed.owl Flavin|flavins owl:Class MONDO:0010335 biolink:NamedThing X-linked cone-rod dystrophy 3 tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy, X-linked, type 3|X-linked cone-rod dystrophy type 3|cone-rod dystrophy, X-linked, 3|cone-rod dystrophy X-linked 3|CORDX3 MESH:C564507|GARD:0010654|DOID:0111007|OMIM:300476 https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3 owl:Class HGNC:1393 biolink:NamedThing CACNA1F tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016853 biolink:NamedThing isomerase activity Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpte7i6ely_mondo_relaxed.owl other isomerase activity owl:Class UBERON:0005425 biolink:NamedThing presumptive neural retina tmpte7i6ely_mondo_relaxed.owl owl:Class N0cd1fa2b84084ac88d6722c31e7d6041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010038 biolink:NamedThing growth delay due to insulin-like growth factor I resistance Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). tmpte7i6ely_mondo_relaxed.owl insulin-like growth factor 1 resistance to|resistance to IGF-1|Somatomedin end-organ insensitivity to|IGF-I resistance|Somatomedin-c resistance to|insulin-like growth factor I, resistance to|IGF1RES|insulin-like Growth Factor I, resistance to, due to increased binding Protein|Somatomedin-C, resistance to|Somatomedin, end-organ insensitivity to|IGF-1 resistance|growth delay due to insulin-like growth factor I resistance Orphanet:73273|MESH:C564816|UMLS:C1849157|OMIM:270450|SCTID:715625007|GARD:0010609|ICD10:E34.3 https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to owl:Class HGNC:5465 biolink:NamedThing IGF1R tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003623 biolink:NamedThing Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. tmpte7i6ely_mondo_relaxed.owl Onset in neonatal period|Onset in first weeks of life|Neonatal onset UMLS:C1855106 HP:0003622 human_phenotype owl:Class UBERON:0007148 biolink:NamedThing lumen of hindgut tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001046 biolink:NamedThing hindgut tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014685 biolink:NamedThing progressive myoclonic epilepsy type 9 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene. tmpte7i6ely_mondo_relaxed.owl EPM9|LMNB2 progressive myoclonic epilepsy|progressive myoclonic epilepsy due to LMNB2 deficiency|epilepsy, progressive myoclonic, type 9|PME type 9|progressive myoclonic epilepsy caused by mutation in LMNB2|epilepsy, progressive myoclonic, 9|progressive myoclonus epilepsy type 9 UMLS:C4225289|Orphanet:457265|OMIM:616540|DOID:0111450|ICD10:G40.3 owl:Class HGNC:6638 biolink:NamedThing LMNB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012979 biolink:NamedThing primary ciliary dyskinesia 12 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in RSPH9|ciliary dyskinesia, primary, type 12|ciliary dyskinesia, primary, 12|RSPH9 primary ciliary dyskinesia|ciliary dyskinesia, primary, 12, without situs inversus|primary ciliary dyskinesia 12 without situs inversus|primary ciliary dyskinesia type 12|CILD12 UMLS:C2675228|DOID:0110601|OMIM:612650|ICD10:Q34.8|MESH:C567211 owl:Class HGNC:21057 biolink:NamedThing RSPH9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006217 biolink:NamedThing cloacal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004341 biolink:NamedThing primitive streak tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003657 biolink:NamedThing limb joint tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007272 biolink:NamedThing ensheathment of neurons The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. tmpte7i6ely_mondo_relaxed.owl ionic insulation of neurons by glial cells owl:Class GO:0048514 biolink:NamedThing blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030720 biolink:NamedThing trichomonal vulvovaginitis An vulvovaginitis caused by infection with Trichomonas vaginalis. tmpte7i6ely_mondo_relaxed.owl trichomonal leukorrhea|Trichomonas vaginalis caused vulvovaginitis|trichomonal vulvovaginitis|Trichomonas vaginalis vulvovaginitis|leukorrhea vaginalis - trichomonal ICD9:131.01|SCTID:81598001|UMLS:C2945558 owl:Class UBERON:0002283 biolink:NamedThing nail matrix tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8400024 biolink:NamedThing subcapsular region of liver tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016479 biolink:NamedThing capsule of liver tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014450 biolink:NamedThing breasts and/or nipples, aplasia or hypoplasia of, 2 Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene. tmpte7i6ely_mondo_relaxed.owl PTPRF isolated congenital breast hypoplasia/aplasia|breasts and/or nipples, aplasia or hypoplasia of, type 2|BNAH2|breasts and/or nipples, aplasia or hypoplasia of, 2|isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF Orphanet:180188|UMLS:C4014918|OMIM:616001 owl:Class HGNC:9670 biolink:NamedThing PTPRF tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3420 biolink:NamedThing EPS8 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2584 biolink:NamedThing CYLD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013191 biolink:NamedThing focal segmental glomerulosclerosis 5 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. tmpte7i6ely_mondo_relaxed.owl focal segmental glomerulosclerosis caused by mutation in INF2|FSGS5|glomerulosclerosis, focal segmental, 5|focal segmental glomerulosclerosis 5|INF2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis type 5 ICD10:N04.1|OMIM:613237|DOID:0111130|MESH:C567687|UMLS:C2750475 owl:Class HGNC:23791 biolink:NamedThing INF2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006574 biolink:NamedThing pectinate line tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005087 biolink:NamedThing tooth placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002650 biolink:NamedThing scrotal carcinoma A carcinoma that arises from epithelial cells of the scrotum. tmpte7i6ely_mondo_relaxed.owl carcinoma of the scrotum|cancer of scrotum|scrotum carcinoma|cancer of the scrotum|carcinoma of scrotum|scrotal cancer NCIT:C6389|UMLS:C1370468|DOID:3445 owl:Class NCBITaxon:37020 biolink:NamedThing Oryzomys palustris tmpte7i6ely_mondo_relaxed.owl marsh rice rat GC_ID:1 ncbi_taxonomy owl:Class MONDO:0045056 biolink:NamedThing grade II meningioma An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma. tmpte7i6ely_mondo_relaxed.owl grade 2 meningioma|WHO grade II meningioma|grade II meningioma UMLS:C1512259|NCIT:C38937 owl:Class MONDO:0013558 biolink:NamedThing Hermansky-Pudlak syndrome 6 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. tmpte7i6ely_mondo_relaxed.owl HPS6|HPS6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 6|Hermansky-Pudlak syndrome caused by mutation in HPS6|Hermansky-Pudlak syndrome type 6 NCIT:C150369|Orphanet:79430|OMIM:614075|DOID:0060544|Orphanet:231512|UMLS:C3888007 owl:Class HGNC:18817 biolink:NamedThing HPS6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007119 biolink:NamedThing isolated aniridia Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. tmpte7i6ely_mondo_relaxed.owl nonsyndromic aniridia|aniridia without systemic involvement OMIM:617141|Orphanet:250923|UMLS:C0003076|OMIM:106210|OMIM:617142|ICD10:Q13.1|OMIMPS:106210 owl:Class MONDO:0001485 biolink:NamedThing atypical depressive disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. tmpte7i6ely_mondo_relaxed.owl atypical depression ICD10:F32.8|DOID:12294|ICD9:296.82|SCTID:191659001 owl:Class HP:0100786 biolink:NamedThing Hypersomnia tmpte7i6ely_mondo_relaxed.owl Excessive sleepiness SNOMEDCT_US:77692006|MSH:D006970|UMLS:C0917799 doelkens 2011-06-07T06:15:07Z human_phenotype owl:Class MONDO:0012401 biolink:NamedThing congenital stromal corneal dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, congenital stromal|congenital hereditary stromal dystrophy|Witschel dystrophy|CSCD|congenital stromal corneal dystrophy MESH:C566452|ICD10:H18.5|ICD9:371.56|Orphanet:101068|DOID:0060445|OMIM:610048|SCTID:702359002|UMLS:C1864738 owl:Class HP:0010783 biolink:NamedThing Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. tmpte7i6ely_mondo_relaxed.owl Redness of skin or mucous membrane MSH:D005483|SNOMEDCT_US:86735004|SNOMEDCT_US:247441003|SNOMEDCT_US:70819003|SNOMEDCT_US:271811009|SNOMEDCT_US:444827008|MSH:D004890|UMLS:C0041834|SNOMEDCT_US:20255002|SNOMEDCT_US:238810007|UMLS:C0016382 peter 2010-04-30T11:40:43Z human_phenotype owl:Class HGNC:28423 biolink:NamedThing STAC3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007811 biolink:NamedThing craniocervical region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12703 biolink:NamedThing BEST1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043512 biolink:NamedThing traumatic encephalopathy Encephalopathy resulting from trauma. tmpte7i6ely_mondo_relaxed.owl dementia due to head trauma|traumatic encephalopathy|post-traumatic brain syndrome|post-traumatic dementia NCIT:C35542|SCTID:230282000|EFO:1001277 Editor note: consider separate class for dementia owl:Class MONDO:0043510 biolink:NamedThing brain injury Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. tmpte7i6ely_mondo_relaxed.owl brain injury|injury of brain|brain trauma|brain Traumas MESH:D001930 owl:Class UBERON:0015458 biolink:NamedThing mediastinal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009650 biolink:NamedThing mucolipidosis type II Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. tmpte7i6ely_mondo_relaxed.owl GNPTA|mucolipidosis II|N-acetylglucosamine 1phosphotransferase deficiency|ML 2|I-cell disease|ML 2 Alpha/Beta|I cell disease|mucolipidosis type II|mucolipidosis II alpha/beta|N-acetylglucosamine 1-phosphotransferase deficiency|ML disorder type 2|Leroy disease|inclusion cell disease|mucolipidosis type II alpha/beta|mucolipidosis 2 alpha/beta|mucolipidosis 2 UMLS:C0020725|OMIM:252500|SCTID:70199000|MESH:C538602|Orphanet:576|DOID:0080070|GARD:0006749|NCIT:C61270|ICD10:E77.0|UMLS:C2673377 owl:Class MONDO:0012299 biolink:NamedThing nanophthalmos 2 Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene. tmpte7i6ely_mondo_relaxed.owl nanophthalmos, autosomal recessive|Nanophthalmia 2|nanophthalmia caused by mutation in MFRP|NNO2|nanophthalmos 2|MFRP nanophthalmia|nanophthalmos type 2 MESH:C563700|OMIM:609549|Orphanet:35612|UMLS:C1836006 owl:Class HGNC:18121 biolink:NamedThing MFRP tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:30938 biolink:NamedThing 6-aminopenicillanate tmpte7i6ely_mondo_relaxed.owl (2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate owl:Class CHEBI:57869 biolink:NamedThing 6-aminopenicillanic acid zwitterion Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl 6-azaniumyl-2,2-dimethylpenam-3alpha-carboxylate|(2S,5R,6R)-6-azaniumyl-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate|6-aminopenicillanate owl:Class UBERON:0006052 biolink:NamedThing digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001570 biolink:NamedThing terrestrial ecoregion An ecoregion which is located on a landmass. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004117 biolink:NamedThing ampulla of vater small cell neuroendocrine carcinoma An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpte7i6ely_mondo_relaxed.owl ampulla of Vater small cell NEC|hepatopancreatic ampulla small cell carcinoma|ampullary small cell carcinoma|small cell neuroendocrine carcinoma of the ampullary region|ampulla of Vater small cell carcinoma|ampulla of Vater small cell neuroendocrine carcinoma DOID:7136|UMLS:C1332250|NCIT:C6655 owl:Class UBERON:0008844 biolink:NamedThing gubernaculum (female) tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006761 biolink:NamedThing corneo-scleral junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000969 biolink:NamedThing pleural lipoma A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall. tmpte7i6ely_mondo_relaxed.owl pleural lipoma|lipoma of the pleura|pleura lipoma|lipoma of pleura UMLS:C1335434|SCTID:2460001000004103|NCIT:C6644|DOID:10195 owl:Class MONDO:0001208 biolink:NamedThing acute respiratory failure Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. tmpte7i6ely_mondo_relaxed.owl acute respiratory failure|respiratory failure, acute NCIT:C27043|ICD9:518.81|UMLS:C0264490|SCTID:65710008 owl:Class HP:0010528 biolink:NamedThing Prosopagnosia Inability to recognize faces of familiar persons. tmpte7i6ely_mondo_relaxed.owl Facial agnosia|Face blindness MSH:D020238|UMLS:C0234512|SNOMEDCT_US:18358003 peter 2009-09-20T11:45:49Z human_phenotype owl:Class GO:0010986 biolink:NamedThing positive regulation of lipoprotein particle clearance Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034381 biolink:NamedThing plasma lipoprotein particle clearance The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpte7i6ely_mondo_relaxed.owl lipoprotein particle clearance owl:Class UBERON:0008522 biolink:NamedThing nasal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000820 biolink:NamedThing pedosphere An astronomical body part which is composed of soil, subject to soil formation processes, and found on the surface of a lithosphere. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015182 biolink:NamedThing congenital enteropathy involving intestinal mucosa development tmpte7i6ely_mondo_relaxed.owl Orphanet:104007 owl:Class GO:0048565 biolink:NamedThing digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. tmpte7i6ely_mondo_relaxed.owl intestinal development|gut development|intestine development owl:Class MONDO:0012613 biolink:NamedThing intellectual disability, autosomal recessive 5 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|MRT5|NSUN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 5|mental retardation, autosomal recessive 5|mental retardation, autosomal recessive type 5|intellectual disability, autosomal recessive 5 OMIM:611091|UMLS:C1970199|MESH:C567018 owl:Class HGNC:25994 biolink:NamedThing NSUN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100215 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 1 tmpte7i6ely_mondo_relaxed.owl brain calcification, Rajab type|neurodevelopmental disorder with brain, liver, and lung abnormalities|developmental delay, small stature, microcephaly, and brain calcifications|Rajab syndrome|NEDBLLA UMLS:C3150910|UMLS:CN248515|SCTID:720576001|OMIM:618007|OMIM:613658|Orphanet:178506 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:17800 biolink:NamedThing FARSB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009472 biolink:NamedThing acetylation, slow tmpte7i6ely_mondo_relaxed.owl acetylation, slow|Isoniazid inactivation, slow|INH inactivation, slow|slow acetylator phenotype|Fast acetylator phenotype|INH inactivation, Fast|acetylation, Fast OMIM:243400 owl:Class HGNC:7646 biolink:NamedThing NAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035110 biolink:NamedThing lateral plantar nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003635 biolink:NamedThing pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013072 biolink:NamedThing Emery-Dreifuss muscular dystrophy 5, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. tmpte7i6ely_mondo_relaxed.owl Emery-Dreifuss muscular dystrophy 5, autosomal dominant|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy|EDMD5|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2|EMERY-Dreifuss muscular dystrophy 5, autosomal dominant Orphanet:98853|DOID:0070250|Orphanet:261|UMLS:C2751805|OMIM:612999 owl:Class HGNC:17084 biolink:NamedThing SYNE2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001569 biolink:NamedThing branching involved in blood vessel morphogenesis The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. tmpte7i6ely_mondo_relaxed.owl patterning of blood vessels owl:Class GO:1903771 biolink:NamedThing positive regulation of beta-galactosidase activity Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity. tmpte7i6ely_mondo_relaxed.owl upregulation of lactozym|upregulation of hydrolact|activation of trilactase activity|up-regulation of trilactase activity|positive regulation of lactozym|activation of lactose hydrolysis|upregulation of exo-(1->4)-beta-D-galactanase activity|activation of S 2107|up-regulation of maxilact|upregulation of trilactase activity|activation of beta-galactosidase activity|upregulation of beta-D-galactoside galactohydrolase activity|activation of beta-D-galactanase activity|upregulation of beta-D-galactanase activity|positive regulation of oryzatym|upregulation of beta-lactosidase activity|upregulation of S 2107|positive regulation of sumiklat|activation of lactozym|activation of beta-lactosidase activity|positive regulation of exo-(1->4)-beta-D-galactanase activity|up regulation of beta-galactosidase activity|up-regulation of beta-galactosidase activity|up regulation of maxilact|positive regulation of trilactase activity|upregulation of lactose hydrolysis|activation of hydrolact|up-regulation of exo-(1->4)-beta-D-galactanase activity|positive regulation of maxilact|activation of beta-D-lactosidase activity|up regulation of beta-D-lactosidase activity|positive regulation of hydrolact|up-regulation of S 2107|activation of oryzatym|up-regulation of sumiklat|up-regulation of lactose hydrolysis|positive regulation of beta-lactosidase activity|up-regulation of beta-D-galactanase activity|up regulation of beta-D-galactoside galactohydrolase activity|positive regulation of beta-D-galactanase activity|up regulation of hydrolact|positive regulation of beta-D-galactoside galactohydrolase activity|up regulation of sumiklat|up regulation of beta-D-galactanase activity|upregulation of maxilact|up-regulation of lactozym|up regulation of oryzatym|positive regulation of lactose hydrolysis|up regulation of lactose hydrolysis|upregulation of sumiklat|up regulation of exo-(1->4)-beta-D-galactanase activity|activation of maxilact|up-regulation of beta-lactosidase activity|up regulation of S 2107|up regulation of trilactase activity|up-regulation of hydrolact|up regulation of beta-lactosidase activity|activation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-D-galactoside galactohydrolase activity|upregulation of beta-galactosidase activity|activation of beta-D-galactoside galactohydrolase activity|positive regulation of S 2107|up-regulation of beta-D-lactosidase activity|up-regulation of oryzatym|upregulation of oryzatym|up regulation of lactozym|activation of sumiklat|upregulation of beta-D-lactosidase activity|positive regulation of beta-D-lactosidase activity owl:Class MONDO:0018131 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion tmpte7i6ely_mondo_relaxed.owl 9q21 microdeletion syndrome|Del(9)(q21) Orphanet:352665|UMLS:CN204512|ICD10:Q93.5 owl:Class UBERON:0005902 biolink:NamedThing occipital region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014704 biolink:NamedThing skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome tmpte7i6ely_mondo_relaxed.owl Kosaki overgrowth syndrome|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration|KOGS OMIM:616592|Orphanet:477831|UMLS:C4225270 owl:Class GO:0005615 biolink:NamedThing extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. tmpte7i6ely_mondo_relaxed.owl intercellular space owl:Class GO:0005576 biolink:NamedThing extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. tmpte7i6ely_mondo_relaxed.owl extracellular owl:Class UBERON:0001251 biolink:NamedThing marginal zone of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010586 biolink:NamedThing manual digit phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004791 biolink:NamedThing thymus trabecula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016204 biolink:NamedThing idiopathic copper-associated cirrhosis Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. tmpte7i6ely_mondo_relaxed.owl non-Wilsonian hepatic copper toxicosis of infancy and childhood Orphanet:209919|OMIM:215600|SCTID:715864007|ICD10:K74.6 owl:Class UBERON:0013718 biolink:NamedThing dartos muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024495 biolink:NamedThing tumor grade 1 or 2, general grading system tmpte7i6ely_mondo_relaxed.owl grade 1/2 owl:Class MONDO:0013948 biolink:NamedThing peroxisome biogenesis disorder 10A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group G|peroxisome biogenesis disorder 10A (Zellweger)|PBD10A|peroxisome biogenesis disorder, complementation group 12 DOID:0080484|Orphanet:912|UMLS:C3553999|OMIM:614882 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100356 biolink:NamedThing classic presentation A severe form of a genetic disease. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class UBERON:0002544 biolink:NamedThing digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018755 biolink:NamedThing scorpion envenomation Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. tmpte7i6ely_mondo_relaxed.owl poisoning caused by scorpion venom|poisoning due to scorpion venom|toxic effect of venom of scorpion ICD10:T63.2|UMLS:CN242103|Orphanet:466677|SCTID:217670007 owl:Class MONDO:0014432 biolink:NamedThing Bardet-Biedl syndrome 2 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. tmpte7i6ely_mondo_relaxed.owl BBS2 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS2|BBS2|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome type 2|Bardet-Biedl syndrome|BBS MESH:C537910|ICD10:Q87.89|OMIM:615981|GARD:0000821|Orphanet:110|UMLS:C2936863|OMIM:209900|DOID:0110124 owl:Class HGNC:967 biolink:NamedThing BBS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044355 biolink:NamedThing isolated sternocostoclavicular hyperostosis Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. tmpte7i6ely_mondo_relaxed.owl isolated SCCH Orphanet:178311|SCTID:766711009|ICD10:M85.8|UMLS:C0020499 owl:Class MONDO:0000517 biolink:NamedThing brain stem medulloblastoma A medulloblastoma that involves the brainstem. tmpte7i6ely_mondo_relaxed.owl brainstem medulloblastoma|medulloblastoma of brainstem DOID:0050899 owl:Class UBERON:0018544 biolink:NamedThing trigeminal nerve muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001645 biolink:NamedThing trigeminal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006264 biolink:NamedThing mouth-foregut junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009126 biolink:NamedThing nodosal placode tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002596 biolink:NamedThing smooth muscle cell of the carotid artery Smooth muscle cell of the carotid artery. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:01:56Z cell owl:Class CHEBI:35481 biolink:NamedThing non-narcotic analgesic A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001764 biolink:NamedThing neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. tmpte7i6ely_mondo_relaxed.owl neuron guidance|neuronal migration|neuron chemotaxis owl:Class GO:0010324 biolink:NamedThing membrane invagination The infolding of a membrane. tmpte7i6ely_mondo_relaxed.owl single-organism membrane invagination owl:Class MONDO:0041751 biolink:NamedThing multibacillary leprosy A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. tmpte7i6ely_mondo_relaxed.owl lepromatous leprosy|multibacillary leprosy SCTID:416257001 owl:Class GO:0042092 biolink:NamedThing type 2 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. tmpte7i6ely_mondo_relaxed.owl T-helper 2 type immune response|Th2 immune response owl:Class UBERON:0015128 biolink:NamedThing subepicardial layer of epicardium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035082 biolink:NamedThing axoneme assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. tmpte7i6ely_mondo_relaxed.owl flagellum axoneme assembly|flagellar axoneme assembly|ciliary axoneme assembly|cilium axoneme assembly|cilium axoneme biogenesis|axoneme biogenesis owl:Class HGNC:6585 biolink:NamedThing LHCGR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009554 biolink:NamedThing 3MC syndrome 3 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. tmpte7i6ely_mondo_relaxed.owl facial clefting syndrome, Gypsy type|Malpuech Facial clefting syndrome, formerly|3MC syndrome 3|3MC3|3MC syndrome caused by mutation in COLEC10|COLEC10 3MC syndrome|3Mc syndrome type 3|3MC syndrome type 3|Malpuech Facial clefting syndrome OMIM:248340|UMLS:C0796032|Orphanet:293843|Orphanet:2453|MESH:C535704|DOID:0060577 owl:Class HGNC:2220 biolink:NamedThing COLEC10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009073 biolink:NamedThing Ritscher-Schinzel syndrome 1 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene. tmpte7i6ely_mondo_relaxed.owl Ritscher-Schinzel syndrome 1|WASHC5 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome caused by mutation in WASHC5|RTSC|Dandy-Walker-like malformation with atrioventricular septal defect|RTSC1|Ritscher-Schinzel syndrome type 1|Craniocerebellocardiac dysplasia|3C syndrome|Ritscher-Schinzel syndrome OMIM:220210|DOID:0060571|UMLS:C0796137|Orphanet:7 owl:Class UBERON:0004829 biolink:NamedThing urethra skeletal muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003829 biolink:NamedThing urethra muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014909 biolink:NamedThing primary ciliary dyskinesia 34 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 34 without situs inversus|ciliary dyskinesia, primary, type 34|ciliary dyskinesia, primary, 34, without situs inversus|ciliary dyskinesia, primary, 34|CILD34|DNAJB13 primary ciliary dyskinesia|primary ciliary dyskinesia type 34|primary ciliary dyskinesia caused by mutation in DNAJB13 DOID:0110610|OMIM:617091|UMLS:C4310722 owl:Class UBERON:0006633 biolink:NamedThing coracoid process of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7p2 biolink:NamedThing 7p2 (Human) tmpte7i6ely_mondo_relaxed.owl 20900000 0 hg38 owl:Class MONDO:0021437 biolink:NamedThing lipoma of stomach A lipoma that involves the stomach. tmpte7i6ely_mondo_relaxed.owl stomach lipoma|gastric lipoma|lipoma of the stomach UMLS:C1333777|NCIT:C5258|SCTID:695751021000132104 owl:Class UBERON:0001359 biolink:NamedThing cerebrospinal fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016661 biolink:NamedThing infantile onset panniculitis with uveitis and systemic granulomatosis tmpte7i6ely_mondo_relaxed.owl Orphanet:251304|ICD10:M08.8 owl:Class HP:0003593 biolink:NamedThing Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life. tmpte7i6ely_mondo_relaxed.owl Onset in infancy|Infantile onset|Onset in first year of life UMLS:C1848924 Onset of signs or symptoms of disease within the first 12 months of life. HP:0003631|HP:0003599|HP:0003629|HP:0003579|HP:0003576|HP:0003600|HP:0003594|HP:0003667|HP:0003591|HP:0010573|HP:0003672 human_phenotype owl:Class MONDO:0032630 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 26 tmpte7i6ely_mondo_relaxed.owl MC1DN26|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 OMIM:618247 owl:Class HGNC:7693 biolink:NamedThing NDUFA9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004765 biolink:NamedThing intrinsic asthma An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. tmpte7i6ely_mondo_relaxed.owl ICD9:493.1|SCTID:266361008|ICD10:J45|DOID:9360|UMLS:C0155880 owl:Class HP:0000739 biolink:NamedThing Anxiety Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. tmpte7i6ely_mondo_relaxed.owl Anxiety disease|Excessive, persistent worry and fear|Anxiousness|Anxiety SNOMEDCT_US:48694002|UMLS:C0003467|MSH:D001007|UMLS:C4020884 human_phenotype owl:Class MONDO:0025514 biolink:NamedThing livedoid vasculopathy Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. tmpte7i6ely_mondo_relaxed.owl livedo vasculitis|livedoid vasculitis|livedo reticularis with winter ulcerations|livedo reticularis with summer ulcerations|white atrophy|segmental hyalinizing vasculopathy|idiopathic atrophic blanche|livedoid vasculopathy ICD10CM:L95.0|SCTID:238762002|GARD:0012784|UMLS:C0343081|ICD9:709.1|Orphanet:542643|ICD10:L95.0|DOID:0040099|ICD9CM:709.1 owl:Class HP:0000979 biolink:NamedThing Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. tmpte7i6ely_mondo_relaxed.owl Red or purple spots on the skin|Blood spots SNOMEDCT_US:387778001|SNOMEDCT_US:423902002|SNOMEDCT_US:12393003|UMLS:C0034150|MSH:D011693 Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). human_phenotype owl:Class MONDO:0005290 biolink:NamedThing rhabdomyolysis A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. tmpte7i6ely_mondo_relaxed.owl rhabdomyolysis|rhabdomyolysis (disease) rhabdomyolysis (disease) ICD9:728.88|SCTID:240131006|EFO:0003867|NCIT:C118318|HP:0003201|MESH:D012206 owl:Class UBERON:0003055 biolink:NamedThing periderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002352 biolink:NamedThing atrioventricular node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002085 biolink:NamedThing interatrial septum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009882 biolink:NamedThing anal column tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001910 biolink:NamedThing folded A surface feature shape quality inhering in a bearer by virtue of the bearer's one part being layered over another connected part. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003369 biolink:NamedThing vagina leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl vaginal leiomyosarcoma|leiomyosarcoma of vagina|vagina leiomyosarcoma|leiomyosarcoma of the vagina DOID:5283|UMLS:C1336940|NCIT:C6326 owl:Class UBERON:0002247 biolink:NamedThing uterine horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013641 biolink:NamedThing Warburg micro syndrome 2 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene. tmpte7i6ely_mondo_relaxed.owl Warburg micro syndrome 2|micro syndrome 2|WARBURG micro syndrome 2|RAB3GAP2 Warburg micro syndrome|WARBM2|Warburg micro syndrome caused by mutation in RAB3GAP2|Warburg micro syndrome type 2 Orphanet:2510|OMIM:614225|ICD10:Q87.0|UMLS:C3280214|DOID:0110717 owl:Class HGNC:17168 biolink:NamedThing RAB3GAP2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061007 biolink:NamedThing hepaticobiliary system process An system process carried out by any of the organs or tissues of the hepaticobiliary system. The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. tmpte7i6ely_mondo_relaxed.owl hepatobiliary system process owl:Class MONDO:0044339 biolink:NamedThing lumbar disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. tmpte7i6ely_mondo_relaxed.owl lumbar Disc Degeneration|intervertebral DISC disease|degenerative disc disorder|degeneration of lumbar intervertebral disc|intervertebral disc degenerative disorder of lumbar region of vertebral column|lumbar disc herniation, susceptibility to|lumbar region of vertebral column intervertebral disc degenerative disorder|lumbar Disc degenerative disease|lumbar Disc degenerative disorder|IDD|lumbar disc degeneration, susceptibility to|intervertebral disc disease|lumbar disc disease|degenerative disc disease EFO:0004994|NCIT:C27154|SCTID:26538006|OMIM:603932|MESH:C535531 owl:Class GO:0010892 biolink:NamedThing positive regulation of mitochondrial translation in response to stress Any process that activates or increases the frequency, rate or extent of mitochondrial translation as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:62215 biolink:NamedThing allelochemical A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory. tmpte7i6ely_mondo_relaxed.owl allelochemicals owl:Class FOODON:00002655 biolink:NamedThing food (peeled) tmpte7i6ely_mondo_relaxed.owl peeled 2019-05-25 06:43:20+00:00 Damion Dooley owl:Class FOODON:03000001 biolink:NamedThing food peeling process peeling" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp). tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0014380 biolink:NamedThing colobomatous microphthalmia-rhizomelic dysplasia syndrome Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|MCOPS14|microphthalmia, syndromic type 14|MCSKS|microphthalmia/coloboma and skeletal dysplasia syndrome OMIM:615877|Orphanet:424099|UMLS:C4014540|ICD10:Q87.5 owl:Class HGNC:6758 biolink:NamedThing MAB21L2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001742 biolink:NamedThing epiglottic cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012353 biolink:NamedThing fin skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008897 biolink:NamedThing fin tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004905 biolink:NamedThing articulation tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9722 biolink:NamedThing ALDH18A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006222 biolink:NamedThing gastric choriocarcinoma A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases. tmpte7i6ely_mondo_relaxed.owl gastric choriocarcinoma NCIT:C95749|UMLS:C2987398|EFO:1000269 owl:Class MONDO:0018696 biolink:NamedThing corticobasal syndrome Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. tmpte7i6ely_mondo_relaxed.owl ICD10:G31.0|Orphanet:454887|UMLS:CN237765 owl:Class HP:0002145 biolink:NamedThing Frontotemporal dementia A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. tmpte7i6ely_mondo_relaxed.owl MSH:D057180|SNOMEDCT_US:230270009|UMLS:C0338451 human_phenotype owl:Class MONDO:0009043 biolink:NamedThing generalized resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. tmpte7i6ely_mondo_relaxed.owl deafness-thyroid hormone resistance syndrome|Refetoff syndrome|GRTH ICD10:E07.8|OMIM:188570|OMIM:274300|Orphanet:3221 owl:Class UBERON:0035498 biolink:NamedThing gastrophrenic ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001164 biolink:NamedThing greater curvature of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013123 biolink:NamedThing atrial septal defect 6 Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene. tmpte7i6ely_mondo_relaxed.owl atrial heart septal defect type 6|TLL1 atrial heart septal defect|atrial septal defect type 6|ASD6|atrial heart septal defect caused by mutation in TLL1|atrial septal defect 6 Orphanet:1478|DOID:0110111|MESH:C567764|ICD10:Q21.1|OMIM:613087|UMLS:C2751315 owl:Class HGNC:11843 biolink:NamedThing TLL1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001821 biolink:NamedThing histamine secretion The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013657 biolink:NamedThing intellectual disability, autosomal dominant 10 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene. tmpte7i6ely_mondo_relaxed.owl CACNG2 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 10|autosomal dominant mental retardation 10|intellectual disability, autosomal dominant type 10|MRD10|autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2|mental retardation, autosomal dominant type 10|mental retardation, autosomal dominant 10|autosomal dominant intellectual disability 10|autosomal dominant non-syndromic intellectual disability 10 OMIM:614256|UMLS:C3280284|DOID:0070040 owl:Class MONDO:0700121 biolink:NamedThing ACTL6A-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24124 biolink:NamedThing ACTL6A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010760 biolink:NamedThing supraglenoid tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901533 biolink:NamedThing negative regulation of hematopoietic progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of hematopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|downregulation of haemopoietic progenitor cell differentiation|inhibition of haemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation|downregulation of haematopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation owl:Class UBERON:0006075 biolink:NamedThing sacral region of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005473 biolink:NamedThing sacral region tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902932 biolink:NamedThing positive regulation of alcohol biosynthetic process Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of alcohol anabolism|positive regulation of alcohol formation|activation of alcohol anabolism|upregulation of alcohol formation|up-regulation of alcohol synthesis|up regulation of alcohol biosynthesis|activation of alcohol synthesis|upregulation of alcohol biosynthetic process|upregulation of alcohol synthesis|up regulation of alcohol anabolism|activation of alcohol biosynthetic process|activation of alcohol biosynthesis|positive regulation of alcohol biosynthesis|up regulation of alcohol biosynthetic process|up-regulation of alcohol anabolism|positive regulation of solventogenesis|up-regulation of alcohol formation|upregulation of alcohol biosynthesis|up regulation of alcohol formation|up-regulation of alcohol biosynthesis|activation of alcohol formation|up regulation of alcohol synthesis|up-regulation of alcohol biosynthetic process|upregulation of alcohol anabolism|positive regulation of alcohol synthesis owl:Class MONDO:0018160 biolink:NamedThing hereditary retinoblastoma An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpte7i6ely_mondo_relaxed.owl RB1|hereditary retinoblastoma|familial retinoblastoma Orphanet:357027|MESH:D012175|ICD10:C69.2|OMIM:180200|DOID:4648|NCIT:C8495 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class HGNC:9884 biolink:NamedThing RB1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004202 biolink:NamedThing kidney outer medulla outer stripe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001293 biolink:NamedThing outer medulla of kidney tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006517 biolink:NamedThing protein deglycosylation The removal of sugar residues from a glycosylated protein. tmpte7i6ely_mondo_relaxed.owl glycoprotein deglycosylation owl:Class UBERON:0005719 biolink:NamedThing footplate apical ectodermal ridge tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006871 biolink:NamedThing embryonic footplate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013308 biolink:NamedThing CBL-related disorder CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL. tmpte7i6ely_mondo_relaxed.owl Cbl mutation-associated syndrome|Cbl syndrome|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|Noonan syndrome-like disorder with JMML|Noonan-like syndrome|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|CBL-related disorder|NSLL UMLS:C3150803|Orphanet:363972|UMLS:C4016301|OMIM:613563|ICD10:Q87.1 owl:Class HGNC:1541 biolink:NamedThing CBL tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13771 biolink:NamedThing SOST tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001333 biolink:NamedThing male urethra tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000717 biolink:NamedThing Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). tmpte7i6ely_mondo_relaxed.owl Autism SNOMEDCT_US:408857007|MSH:D001321|SNOMEDCT_US:43614003|SNOMEDCT_US:408856003|UMLS:C0004352 The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. human_phenotype owl:Class HGNC:4318 biolink:NamedThing GLI2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008565 biolink:NamedThing familial thyroglossal duct cyst Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. tmpte7i6ely_mondo_relaxed.owl thyroglossal duct cysts|hereditary thyroglossal duct cysts|thyroglossal duct cyst, familial|thyroglossal duct cysts familial|hereditary thyroglossal duct cyst GARD:0005204|MESH:C536909|SCTID:717331000|UMLS:C3495590|ICD10:Q89.2|Orphanet:93953|OMIM:188455 https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst owl:Class UBERON:0001962 biolink:NamedThing gut-associated lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003373 biolink:NamedThing ectoderm of footplate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014209 biolink:NamedThing early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 79, autosomal recessive|neurodegeneration with optic atrophy, childhood-onset|NDGOA|SPG79 UMLS:C3809665|Orphanet:352654|OMIM:615491|ICD10:G31.8 owl:Class HP:0007773 biolink:NamedThing Vitreoretinopathy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. tmpte7i6ely_mondo_relaxed.owl Vitreoretinal degeneration|Vitreoretinal abnormality UMLS:C1850109 HP:0000655 human_phenotype owl:Class MONDO:0032770 biolink:NamedThing intellectual developmental disorder with severe speech and ambulation defects Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene. tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS|ACTL6B-related BAFopathy|IDDSSAD OMIM:618470 owl:Class HGNC:160 biolink:NamedThing ACTL6B tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000443 biolink:NamedThing calcitonin secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0042749 biolink:NamedThing regulation of circadian sleep/wake cycle Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042745 biolink:NamedThing circadian sleep/wake cycle The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009173 biolink:NamedThing congenital enteropathy due to enteropeptidase deficiency A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. tmpte7i6ely_mondo_relaxed.owl enteropeptidase deficiency|enterokinase deficiency|congenital enterokinase deficiency MESH:C562649|Orphanet:168601|OMIM:226200|DOID:0111667|ICD10:K90.8|SCTID:190952002|ICD9:277.89|UMLS:C0268416 owl:Class UBERON:0001575 biolink:NamedThing extrinsic muscle of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001899 biolink:NamedThing epithalamus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014743 biolink:NamedThing rhizomelic chondrodysplasia punctata type 5 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene. tmpte7i6ely_mondo_relaxed.owl rhizomelic chondrodysplasia punctata caused by mutation in PEX5|PEX5 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata, type 5|RCDP5|Rcdp5|rhizomelic chondrodysplasia punctata type 5 Orphanet:468717|OMIM:616716|DOID:0110854|UMLS:C4225237 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:9719 biolink:NamedThing PEX5 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5p biolink:NamedThing 5p (Human) tmpte7i6ely_mondo_relaxed.owl 48800000 0 hg38 owl:Class MONDO:0014381 biolink:NamedThing cholestasis, progressive familial intrahepatic, 4 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene. tmpte7i6ely_mondo_relaxed.owl progressive familial intrahepatic cholestasis type 4|progressive familial intrahepatic cholestasis caused by mutation in TJP2|cholestasis, progressive familial intrahepatic, type 4|TJP2 deficit|PFIC4|cholestasis, progressive familial intrahepatic 4|TJP2 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, 4|progressive familial intrahepatic cholestasis 4 GARD:0009803|OMIM:615878|Orphanet:79304|UMLS:CN776838|UMLS:C2931067|Orphanet:172|DOID:0070224|Orphanet:480483 MONDO:0018803 owl:Class HGNC:11828 biolink:NamedThing TJP2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3808 biolink:NamedThing FOXE3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015179 biolink:NamedThing intestinal disease due to vitamin absorption anomaly tmpte7i6ely_mondo_relaxed.owl UMLS:CN197521|Orphanet:104004 owl:Class UBERON:0011118 biolink:NamedThing tarsometatarsal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008814 biolink:NamedThing hyperargininemia Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. tmpte7i6ely_mondo_relaxed.owl deficiency of canavanase|hyperargininemia|arginase deficiency|Arg1 deficiency|argininemia MESH:D020162|GARD:0005840|ICD10:E72.2|ICD10:E72.21|UMLS:C0268548|SCTID:23501004|DOID:9278|Orphanet:90|OMIM:207800|NCIT:C84568|MedDRA:10062695 owl:Class HGNC:663 biolink:NamedThing ARG1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042635 biolink:NamedThing positive regulation of hair cycle Any process that activates or increases the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpte7i6ely_mondo_relaxed.owl upregulation of hair cycle|up regulation of hair cycle|up-regulation of hair cycle|stimulation of hair cycle|activation of hair cycle owl:Class MONDO:0005077 biolink:NamedThing pertussis A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. tmpte7i6ely_mondo_relaxed.owl Bordetella pertussis disease or disorder|Bordetella infection|Bordetella pertussis caused disease or disorder|Bordetella pertussis infectious disease|whooping cough|Bordetella pertussis infection|WC - whooping cough|infection due to Bordetella pertussis|pertussis EFO:0000650|UMLS:C0043167|MESH:D014917|ICD10:A37.8|ICD9:033.0|KEGG:05133|Orphanet:1489|ICD9:033|SCTID:27836007|DOID:1116|ICD10:A37.9|SCTID:26484003|ICD10:A37.1|MedDRA:10047974|ICD10:A37.0|GARD:0008692|ICD9:033.9|NCIT:C85231|MedDRA:10034738 https://rarediseases.info.nih.gov/diseases/8692/whooping-cough owl:Class GO:0099738 biolink:NamedThing cell cortex region The complete extent of cell cortex that underlies some some region of the plasma membrane. tmpte7i6ely_mondo_relaxed.owl perimembrane region owl:Class GO:0005938 biolink:NamedThing cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpte7i6ely_mondo_relaxed.owl peripheral cytoplasm|cell periphery owl:Class MONDO:0016567 biolink:NamedThing locked-in syndrome Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. tmpte7i6ely_mondo_relaxed.owl locked in syndrome|locked-in state|Cerebromedullospinal disconnection DOID:12697|MedDRA:10024792|Orphanet:2406|ICD10:G83.5|SCTID:38023001|GARD:0006919|ICD9:344.81|ICD10:G83.8 https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome owl:Class UBERON:0010225 biolink:NamedThing thalamic complex tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000065 biolink:NamedThing ovarian microvascular endothelial cell Any microvascular endothelial cell that is part of a female urethra. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7300 TermGenie 2014-10-07T18:18:01Z cell owl:Class UBERON:0001334 biolink:NamedThing female urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005946 biolink:NamedThing outflow tract of atrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015091 biolink:NamedThing autosomal dominant spastic paraplegia type 9 Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. tmpte7i6ely_mondo_relaxed.owl cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|cataracts, motor neuronopathy, short stature and skeletal abnormalities|autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|SPG9|bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|autosomal dominant spastic paraparesis|ALDH18A1 autosomal dominant complex spastic paraplegia|spastic paraplegia 9 MESH:C536868|Orphanet:100990|ICD10:G11.4|OMIM:601162|GARD:0009583 owl:Class UBERON:0034972 biolink:NamedThing jugular body tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015065 biolink:NamedThing ileal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum. tmpte7i6ely_mondo_relaxed.owl ileal neuroendocrine neoplasm|ileal neuroendocrine tumor NCIT:C135092|Orphanet:100078|UMLS:CN197358 Editor note: TODO apply G1/G2 pattern owl:Class UBERON:0002116 biolink:NamedThing ileum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045920 biolink:NamedThing negative regulation of exocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis. tmpte7i6ely_mondo_relaxed.owl down regulation of exocytosis|down-regulation of exocytosis|inhibition of exocytosis|downregulation of exocytosis owl:Class MONDO:0005358 biolink:NamedThing Dengue hemorrhagic fever A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. tmpte7i6ely_mondo_relaxed.owl Dengue haemorrhagic fever|DHF EFO:0004227|NCIT:C34683|SCTID:20927009|ICD10:A91|DOID:12206 owl:Class HP:0001873 biolink:NamedThing Thrombocytopenia A reduction in the number of circulating thrombocytes. tmpte7i6ely_mondo_relaxed.owl Low platelet count SNOMEDCT_US:415116008|UMLS:C0040034|MSH:D013921|UMLS:C0392386|SNOMEDCT_US:302215000 Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). HP:0008268|HP:0004838|HP:0008175|HP:0001906|HP:0008302 human_phenotype owl:Class MONDO:0001284 biolink:NamedThing endometriosis of intestine Endometriosis that affects the intesines. tmpte7i6ely_mondo_relaxed.owl endometriosis (disease) of intestine|intestine endometriosis (disease) SCTID:5562006|ICD10:N80.5|UMLS:C0156347|DOID:11428|ICD9:617.5 owl:Class MONDO:0014542 biolink:NamedThing congenital myasthenic syndrome 15 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, 15|congenital myasthenic syndrome caused by mutation in ALG14|CMS15|ALG14 congenital myasthenic syndrome|congenital myasthenic syndrome type 15|congenital myasthenic syndrome 15 without tubular aggregates|myasthenic syndrome, congenital, type 15|myasthenic syndrome, congenital, without tubular aggregates Orphanet:590|OMIM:616227|UMLS:C4015596|DOID:0110658|Orphanet:353327 owl:Class HGNC:28287 biolink:NamedThing ALG14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019236 biolink:NamedThing inborn disorder of purine metabolism An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. tmpte7i6ely_mondo_relaxed.owl rare inborn error of purine nucleobase metabolic process|disorder of purine metabolism|inborn error of purine nucleobase metabolic process|inborn purine nucleobase metabolic process disorder Orphanet:79191|MedDRA:10061476 owl:Class MONDO:0009659 biolink:NamedThing mucopolysaccharidosis type 4A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. tmpte7i6ely_mondo_relaxed.owl MPS4A|mucopolysaccharidosis, type IVA|MPS IVA|Morquio syndrome A|mucopolysaccharidosis type 4A|Morquio disease type A|Morquio A disease|N-acetylgalactosamine-6-sulfate sulfatase deficiency|mucopolysaccharidosis, type 4A|galactosamine-6-sulfatase deficiency|MPS IV A|MPS 4A|mucopolysaccharidosis type IVA|MPSIVA|GALNS deficiency Orphanet:309297|NCIT:C84901|GARD:0003785|OMIM:253000|Orphanet:582|ICD10:E76.2|SCTID:7259005|DOID:0111391 owl:Class GO:0033844 biolink:NamedThing galactose-6-sulfurylase activity Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues. tmpte7i6ely_mondo_relaxed.owl D-galactose-6-sulfate:alkyltransferase (cyclizing) activity|galactose 6-sulfatase activity|porphyran sulfatase activity|galactose-6-sulfatase activity owl:Class CHEBI:16015 biolink:NamedThing L-glutamic acid An optically active form of glutamic acid having L-configuration. tmpte7i6ely_mondo_relaxed.owl L-Glutaminsaeure|L-Glu|Glu|acido glutamico|E|(S)-glutamic acid|GLUTAMIC ACID|L-glutamic acid|L-Glutaminic acid|(2S)-2-aminopentanedioic acid|Glutamate|glutamic acid|(S)-2-aminopentanedioic acid|acidum glutamicum|acide glutamique|L-Glutamic acid owl:Class CHEBI:173085 biolink:NamedThing ferroptosis inducer Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. tmpte7i6ely_mondo_relaxed.owl ferroptosis inducers owl:Class UBERON:0003304 biolink:NamedThing mesoderm blood island tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001145 biolink:NamedThing ovarian vein tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001869 biolink:NamedThing negative regulation of complement activation, lectin pathway Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway. tmpte7i6ely_mondo_relaxed.owl down regulation of complement activation, lectin pathway|down-regulation of complement activation, lectin pathway|negative regulation of complement cascade, lectin pathway|inhibition of complement activation, lectin pathway|downregulation of complement activation, lectin pathway owl:Class CHEBI:18154 biolink:NamedThing polysaccharide A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. tmpte7i6ely_mondo_relaxed.owl Glycane|polisacarido|polisacaridos|polysaccharides|Glycan|Polysaccharide|Glykan|glycans|Glykane owl:Class MONDO:0011225 biolink:NamedThing severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. tmpte7i6ely_mondo_relaxed.owl SCID due to DCLRE1C deficiency|severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|DCLRE1C severe combined immunodeficiency (disease)|Athabaskan Severe combined immunodeficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|SCID due to ARTEMIS deficiency|SCID due to artemis deficiency|RS-SCID|SCID, Athabaskan type|severe combined immunodeficiency, Athabaskan-type|severe combined immunodeficiency, partial|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabascan type|SCID, Athabascan type|artemis deficiency|severe combined immunodeficiency due to DCLRE1C deficiency|severe combined immunodeficiency, Athabaskan type|severe combined immunodeficiency due to artemis deficiency OMIM:602450|DOID:0060006|GARD:0009987|DOID:0090012|ICD10:D81.1|SCTID:715982006|Orphanet:275|OMIM:603554 https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation owl:Class HGNC:17642 biolink:NamedThing DCLRE1C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014083 biolink:NamedThing agammaglobulinemia 7, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. tmpte7i6ely_mondo_relaxed.owl agammaglobulinemia 7, autosomal recessive|AGM7|agammaglobulinemia, autosomal recessive, due to PIK3R1 defect|PIK3R1 autosomal agammaglobulinemia|autosomal agammaglobulinemia caused by mutation in PIK3R1 Orphanet:33110|Orphanet:229717|UMLS:C3554689|OMIM:615214 owl:Class HGNC:8979 biolink:NamedThing PIK3R1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003729 biolink:NamedThing mouth mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11773 biolink:NamedThing TGFBR2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001196 biolink:NamedThing middle colic artery tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002434 biolink:NamedThing CD24-positive, CD8 single-positive thymocyte A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpte7i6ely_mondo_relaxed.owl CD24-positive, CD8 single-positive semimature thymocyte|T.8SP24int.Th Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:59:10Z cell owl:Class UBERON:0035401 biolink:NamedThing posterior wall of nasopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q2 biolink:NamedThing 3q2 (Human) tmpte7i6ely_mondo_relaxed.owl 198295559 122200000 hg38 owl:Class OBO:CHR_9606-chr3q biolink:NamedThing 3q (Human) tmpte7i6ely_mondo_relaxed.owl 198295559 90900000 hg38 owl:Class MONDO:0015437 biolink:NamedThing ring chromosome 21 Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. tmpte7i6ely_mondo_relaxed.owl chromosome 21 ring|Ring chromosome 21 syndrome|Ring chromosome type 21|R21|Ring 21|chromosome 21 en anneau ICD10:Q93.2|GARD:0006083|MESH:C537109|SCTID:31325007|UMLS:CN037252|Orphanet:1445 https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 owl:Class MONDO:0018081 biolink:NamedThing hemorrhagic fever-renal syndrome Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. tmpte7i6ely_mondo_relaxed.owl Hantavirosis|Hantavirus fever Orphanet:340|UMLS:CN204401|MESH:C535630|ICD10:A98.5+|MedDRA:10023484|UMLS:C2930957|ICD10:N08.0* owl:Class MONDO:0006105 biolink:NamedThing benign conjunctival neoplasm Abnormal growth of the cells of the conjunctiva without malignant characteristics. tmpte7i6ely_mondo_relaxed.owl benign conjunctiva tumor|benign conjunctival neoplasm|benign neoplasm of the conjunctiva|conjunctiva benign neoplasm|benign conjunctival tumor|benign conjunctiva neoplasm|benign tumor of the conjunctiva|benign tumor of conjunctiva|benign neoplasm of conjunctiva SCTID:92068002|UMLS:C0154025|NCIT:C3622|EFO:1000110 owl:Class GO:0042470 biolink:NamedThing melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034723 biolink:NamedThing fin taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011405 biolink:NamedThing poikiloderma with neutropenia A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. tmpte7i6ely_mondo_relaxed.owl Clericuzio type poikiloderma with neutropenia|poikiloderma with neutropenia|poikiloderma with neutropenia Clericuzio type|poikiloderma with neutropenia, Clericuzio type|poikiloderma with neutropenia, Clericuzio-type|PN Orphanet:221046|OMIM:604173|ICD10:D82.8|GARD:0004085|DOID:0060551 owl:Class HGNC:25792 biolink:NamedThing USB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014309 biolink:NamedThing obesity due to CEP19 deficiency tmpte7i6ely_mondo_relaxed.owl morbid obesity and spermatogenic failure|MOSPGF ICD10:E66.8|OMIM:615703|UMLS:C3810324|Orphanet:397615 owl:Class HGNC:28209 biolink:NamedThing CEP19 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002305 biolink:NamedThing layer of hippocampus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002421 biolink:NamedThing hippocampal formation tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4247 biolink:NamedThing GGCX tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:203691 biolink:NamedThing Spirochaetes tmpte7i6ely_mondo_relaxed.owl Spirochaetaeota|Spirochaetae|Spirochaetota PMID:11837318|GC_ID:11|PMID:26654112|PMID:29458499 ncbi_taxonomy owl:Class UBERON:0010536 biolink:NamedThing nephron progenitor tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004756 biolink:NamedThing dermal skeletal element tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29536 biolink:NamedThing MAPKBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098573 biolink:NamedThing intrinsic component of mitochondrial membrane The component of the mitochondrial membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to mitochondrial membrane owl:Class GO:0031966 biolink:NamedThing mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11027 biolink:NamedThing SLC4A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003885 biolink:NamedThing mesometrium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012332 biolink:NamedThing broad ligament of uterus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022408 biolink:NamedThing negative regulation of cell-cell adhesion Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. tmpte7i6ely_mondo_relaxed.owl down regulation of cell-cell adhesion|down-regulation of cell-cell adhesion|inhibition of cell-cell adhesion|downregulation of cell-cell adhesion owl:Class MONDO:0011708 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 36 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 36|DFNA36|TMC1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal dominant 36|autosomal dominant nonsyndromic deafness type 36|deafness, autosomal dominant type 36|autosomal dominant deafness 36 DOID:0110563|MESH:C564675|UMLS:C1847626|OMIM:606705|ICD10:H90.3 owl:Class HGNC:16513 biolink:NamedThing TMC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002031 biolink:NamedThing epithelium of bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000515 biolink:NamedThing skeletal muscle myoblast A myoblast that differentiates into skeletal muscle fibers. tmpte7i6ely_mondo_relaxed.owl skeletal myoblast FMA:84799 cell owl:Class UBERON:0005136 biolink:NamedThing metanephric glomerular endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033048 biolink:NamedThing negative regulation of mitotic sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000070 biolink:NamedThing mitotic sister chromatid segregation The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. tmpte7i6ely_mondo_relaxed.owl mitotic chromosome segregation|mitotic sister-chromatid adhesion release owl:Class GO:0004175 biolink:NamedThing endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. tmpte7i6ely_mondo_relaxed.owl elastase activity|proteasome endopeptidase activity|proteinase|endoprotease activity owl:Class MONDO:0009097 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal recessive Autosomal recessive form of persistent hyperplastic primary vitreous. tmpte7i6ely_mondo_relaxed.owl persistent hyperplastic primary vitreous, autosomal recessive|retinal nonattachment, nonsyndromic congenital|autosomal recessive persistent hyperplastic primary vitreous|PHPVAR|retinal nonattachment and falciform detachment|persistent fetal vasculature Orphanet:91495|Orphanet:300337|UMLS:C1969783|OMIM:221900 owl:Class MONDO:0032618 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 13 tmpte7i6ely_mondo_relaxed.owl MC1DN13|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 OMIM:618235 owl:Class HGNC:7685 biolink:NamedThing NDUFA2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:71392 biolink:NamedThing tetracycline(1-) An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. tmpte7i6ely_mondo_relaxed.owl (1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,7,11-trihydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracene-2,5-diolate|tetracycline anion owl:Class CHEBI:77932 biolink:NamedThing tetracycline zwitterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). tmpte7i6ely_mondo_relaxed.owl tetracycline|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,5,7,11-tetrahydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracen-2-olate owl:Class MONDO:0007557 biolink:NamedThing epidermolysis bullosa with congenital localized absence of skin and deformity of nails tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa dystrophica, Bart type|epidermolysis bullosa with congenital localized absence of skin and deformity of nails SCTID:2689001|DOID:0111347|ICD9:757.39|MESH:C562638|OMIM:132000 owl:Class HGNC:2214 biolink:NamedThing COL7A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20580 biolink:NamedThing CYP2R1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005539 biolink:NamedThing small bowel Crohn disease An Crohn disease involving a pathogenic inflammatory response in the small intestine. tmpte7i6ely_mondo_relaxed.owl small bowel Crohn's disease EFO:0005629 owl:Class MONDO:0013757 biolink:NamedThing congenital nongoitrous hypothryoidism 6 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. tmpte7i6ely_mondo_relaxed.owl CHNG6|hypothyroidism, congenital, nongoitrous caused by mutation in THRA|hypothyroidism, congenital, nongoitrous, type 6|THRA hypothyroidism, congenital, nongoitrous|hypothyroidism, congenital, nongoitrous, 6|congenital nongoitrous hypothyroidism 6 DOID:0070128|Orphanet:97927|ICD10:E03.1|UMLS:C3280817|OMIM:614450 owl:Class MONDO:0008214 biolink:NamedThing Pelger-Huet anomaly An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. tmpte7i6ely_mondo_relaxed.owl ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities|PHA|Pelger-Huet nuclear anomaly|Pelger Huet anomaly|Pelger-Huet anomaly DOID:9631|EFO:1001093|SCTID:85559002|MESH:D010381|MedDRA:10029377|NCIT:C85002|OMIM:169400|GARD:0009148|UMLS:C0030779 owl:Class HGNC:6518 biolink:NamedThing LBR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001417 biolink:NamedThing skin of neck tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009598 biolink:NamedThing metaphyseal chondrodysplasia-retinitis pigmentosa syndrome tmpte7i6ely_mondo_relaxed.owl metaphyseal chondrodysplasia with retinitis pigmentosa|retinitis pigmentosa with or without skeletal anomalies|RPSKA|brachydactyly-short stature-retinitis pigmentosa syndrome UMLS:C1855188|OMIM:250410|MESH:C565398|Orphanet:166035 owl:Class CL:1000418 biolink:NamedThing myoepithelial cell of lactiferous alveolus A myoepithelial cell that is part of the mammary gland alveolus. tmpte7i6ely_mondo_relaxed.owl basal cell of alveolus of lactiferous gland|myoepithelial cell of mammary alveolus FMA:67802 cell owl:Class UBERON:0003214 biolink:NamedThing mammary gland alveolus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006931 biolink:NamedThing stomach glandular region mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011953 biolink:NamedThing stomach glandular region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007113 biolink:NamedThing Angelman syndrome Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. tmpte7i6ely_mondo_relaxed.owl AS|happy puppet syndrome|Angelman syndrome chromosome region|happy puppet syndrome (formerly)|puppetlike syndrome|Angelman syndrome|happy puppet syndrome, formerly MESH:D017204|GARD:0005810|SCTID:76880004|MedDRA:10049004|NCIT:C75462|OMIM:105830|Orphanet:72|ICD10:Q93.51|UMLS:C0162635|DOID:1932|MESH:C531619|ICD9:759.89|ICD10:Q93.5 https://github.com/monarch-initiative/mondo/issues/3941 owl:Class HGNC:12496 biolink:NamedThing UBE3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013116 biolink:NamedThing congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome|myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|myopathy with cataract and combined respiratory chain deficiency|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory-chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome Orphanet:330054|GARD:0010522|OMIM:613076|ICD10:G71.3|MESH:C567769|UMLS:C2751320 owl:Class HGNC:4236 biolink:NamedThing GFER tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024410 biolink:NamedThing infection caused by Bifidobacterium A disease caused by infection with Bifidobacterium. tmpte7i6ely_mondo_relaxed.owl infection caused by Bifidobacterium|Bifidobacterium infection|Bifidobacterium caused disease or disorder|Bifidobacterium disease or disorder|Bifidobacterium infectious disease UMLS:C1096283|SCTID:721759009 owl:Class NCBITaxon:1678 biolink:NamedThing Bifidobacterium tmpte7i6ely_mondo_relaxed.owl Bifidibacterium|Tissieria PMID:17158978|GC_ID:11|PMID:8573484|PMID:11594590|PMID:1742200|PMID:20061504 ncbi_taxonomy owl:Class MONDO:0013445 biolink:NamedThing complement component 9 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene. tmpte7i6ely_mondo_relaxed.owl C9D|C9 deficiency|classic complement early component deficiency caused by mutation in C9|complement component 9 deficiency|C9 classic complement early component deficiency DOID:0060303|Orphanet:169150|OMIM:613825|ICD10:D84.1|UMLS:C3151189|MESH:C565165 owl:Class HGNC:1358 biolink:NamedThing C9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035597 biolink:NamedThing profundal placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003070 biolink:NamedThing trigeminal placode complex tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070278 biolink:NamedThing extracellular matrix constituent secretion The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell. tmpte7i6ely_mondo_relaxed.owl ECM constituent secretion|ECM secretion owl:Class UBERON:0018232 biolink:NamedThing axillary sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100438 biolink:NamedThing AIPL1-related retinopathy A retinopathy caused by biallelic variants in the AIPL1 gene. tmpte7i6ely_mondo_relaxed.owl LCA4|Leber congenital amaurosis 4|AIPL1 retinopathy|AIPL1 Leber congenital amaurosis|Leber congenital amaurosis type 4|cone-rod dystrophy, AIPL1-related|cone-rod dystrophy|retinitis pigmentosa, juvenile|amaurosis congenita of Leber, type 4|Leber congenital amaurosis caused by mutation in AIPL1|retinitis pigmentosa, juvenile, AIPL1-related http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class HGNC:359 biolink:NamedThing AIPL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015023 biolink:NamedThing phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056802 biolink:NamedThing synovial bursa disorder A disease or disorder that involves the synovial bursa. tmpte7i6ely_mondo_relaxed.owl disorder of bursa|disease of synovial bursa|disorder of synovial bursa|disease or disorder of synovial bursa|synovial bursa disease or disorder UMLS:C0263946|SCTID:10597006 owl:Class MONDO:0003743 biolink:NamedThing heart malignant hemangiopericytoma A malignant hemangiopericytoma arising in the heart. tmpte7i6ely_mondo_relaxed.owl malignant hemangiopericytoma of heart|malignant Cardiac hemangiopericytoma|malignant hemangiopericytoma of the heart|malignant heart hemangiopericytoma|heart spindle cell tumor|heart hemangiopericytoma NCIT:C5365|UMLS:C1334567|DOID:6034 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0012909 biolink:NamedThing skeletal defects, genital hypoplasia, and intellectual disability tmpte7i6ely_mondo_relaxed.owl skeletal defects, genital hypoplasia, and intellectual disability|skeletal defects, genital hypoplasia, and mental retardation MESH:C567306|UMLS:C2676231|OMIM:612447 owl:Class HGNC:12930 biolink:NamedThing ZBTB16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001250 biolink:NamedThing keratomalacia An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia. tmpte7i6ely_mondo_relaxed.owl UMLS:C0152455|MESH:C536156|DOID:11267|SCTID:85149007|ICD10:H18.44|GARD:0006825|ICD9:371.45 owl:Class GO:0010669 biolink:NamedThing epithelial structure maintenance A tissue homeostatic process required for the maintenance of epithelial structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021424 biolink:NamedThing hemangiopericytoma of skin A hemangiopericytoma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl hemangiopericytoma of the skin|zone of skin hemangiopericytoma|skin hemangiopericytoma UMLS:C0346084|SCTID:254796009|NCIT:C4492 owl:Class MONDO:0010161 biolink:NamedThing tyrosinemia type I Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. tmpte7i6ely_mondo_relaxed.owl FAH deficiency|tyrosinemia type I|tyrosinemia type 1|Fah deficiency|hepatorenal tyrosinemia|TYRSN1|fumarylacetoacetate hydrolase deficiency|fumarylacetoacetase deficiency|tyrosinemia, type 1|type I tyrosinemia|tyrosinemia, type I NCIT:C98641|DOID:0050726|SCTID:410056006|GARD:0002658|ICD10:E70.2|MedDRA:10069462|UMLS:C0268490|OMIM:276700|Orphanet:882 https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 owl:Class HP:0003231 biolink:NamedThing Hypertyrosinemia An increased concentration of tyrosine in the blood. tmpte7i6ely_mondo_relaxed.owl Tyrosinemia|Increased tyrosine in blood SNOMEDCT_US:56595005|UMLS:C1879362 Defect in fumarylacetoacetase. human_phenotype owl:Class UBERON:0005599 biolink:NamedThing common dorsal aorta tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005805 biolink:NamedThing dorsal aorta tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002019 biolink:NamedThing Constipation Infrequent or difficult evacuation of feces. tmpte7i6ely_mondo_relaxed.owl Constipation|Costiveness|Dyschezia MSH:D003248|SNOMEDCT_US:14760008|UMLS:C0237326|UMLS:C0009806|SNOMEDCT_US:225595004 HP:0003786|HP:0002241 human_phenotype owl:Class MONDO:0007709 biolink:NamedThing hematuria, benign familial tmpte7i6ely_mondo_relaxed.owl thin-basement-membrane nephropathy|thin membrane nephropathy|hematuria, benign familial|BFH Orphanet:97562|OMIM:141200|MESH:C562476|DOID:0111365 owl:Class GO:0090594 biolink:NamedThing inflammatory response to wounding The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2263 biolink:NamedThing COX15 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004700 biolink:NamedThing arterial system endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001464 biolink:NamedThing hip tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000262 biolink:NamedThing mitochondrial chromosome A chromosome found in the mitochondrion of a eukaryotic cell. tmpte7i6ely_mondo_relaxed.owl mitochondrial genome|mtDNA|mitochondrial DNA owl:Class UBERON:0005316 biolink:NamedThing endocardial endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4010 biolink:NamedThing FUS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012141 biolink:NamedThing orofacial cleft 6, susceptibility to Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene. tmpte7i6ely_mondo_relaxed.owl IRF6 orofacial cleft|susceptibility to orofacial cleft 6|orofacial cleft caused by mutation in IRF6|OFC6|cleft lip with or without cleft palate, nonsyndromic, 6|orofacial cleft 6, susceptibility to Orphanet:1991|OMIM:608864|DOID:0080593 owl:Class HGNC:6121 biolink:NamedThing IRF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001507 biolink:NamedThing viral labyrinthitis An labyrinthitis caused by infection with Viruses. tmpte7i6ely_mondo_relaxed.owl Viruses labyrinthitis|epidemic vertigo (finding)|epidemic vertigo|Viruses caused labyrinthitis ICD9:386.35|SCTID:409711008|DOID:12357|UMLS:C0155508 owl:Class MONDO:0019610 biolink:NamedThing Zollinger-Ellison syndrome Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. tmpte7i6ely_mondo_relaxed.owl pancreatic ulcerogenic tumor syndrome|Zollinger-Ellison syndrome (disease)|ZES|gastrinoma|Z E syndrome|Zollinger-Ellison syndrome|Z-E syndrome|Zollinger Ellison syndrome Orphanet:913|SCTID:53132006|MESH:D015408|ICD10:C25.4|EFO:0007549|NCIT:C3453|DOID:0050782|MedDRA:10017852|HP:0002044|GARD:0007918|UMLS:C0043515|ICD10:E16.4|MESH:D015043|ICD10:D37.7 owl:Class MONDO:0015063 biolink:NamedThing duodenal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum. tmpte7i6ely_mondo_relaxed.owl duodenal neuroendocrine tumor NCIT:C135080|UMLS:CN197356|Orphanet:100076 owl:Class UBERON:0003910 biolink:NamedThing splenic sinusoid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001250 biolink:NamedThing red pulp of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:13941 biolink:NamedThing carbamate tmpte7i6ely_mondo_relaxed.owl carbamate|Carbamat|carbamate ion|Karbamat|carbamic acid, ion(1-) owl:Class UBERON:0010712 biolink:NamedThing limb skeleton subdivision tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5864 biolink:NamedThing Babesia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044204 biolink:NamedThing Shwachman-Diamond syndrome 1 tmpte7i6ely_mondo_relaxed.owl Shwachman-Diamond syndrome 1|Shwachman-Bodian syndrome|pancreatic insufficiency and bone marrow dysfunction|Shwachman-Diamond syndrome|lipomatosis of pancreas, congenital|SDS1 OMIM:260400|Orphanet:811 owl:Class MONDO:0100193 biolink:NamedThing chronic liver failure Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition. tmpte7i6ely_mondo_relaxed.owl end-stage liver disease|ESLD|end stage liver disease|end stage liver disease (decompensated liver disease) NCIT:C84428 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014722 biolink:NamedThing Roifman syndrome tmpte7i6ely_mondo_relaxed.owl spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|Roifman syndrome|ROIFMAN syndrome|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency Orphanet:353298|OMIM:616651|MESH:C535866|UMLS:C1846059|GARD:0009163|ICD10:Q77.7 https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome owl:Class HGNC:34016 biolink:NamedThing RNU4ATAC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014570 biolink:NamedThing lethal congenital contracture syndrome 8 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene. tmpte7i6ely_mondo_relaxed.owl lethal congenital contracture syndrome 8|LCCS8|ADCY6 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in ADCY6|lethal congenital contracture syndrome type 8 Orphanet:2680|OMIM:616287|UMLS:C4225385 owl:Class HGNC:237 biolink:NamedThing ADCY6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002186 biolink:NamedThing bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060055 biolink:NamedThing angiogenesis involved in wound healing Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013891 biolink:NamedThing amyotrophic lateral sclerosis type 18 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis type 18|amyotrophic lateral sclerosis 18|ALS18|PFN1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in PFN1 OMIM:614808|DOID:0060209|Orphanet:803|UMLS:C3553719 owl:Class HGNC:8881 biolink:NamedThing PFN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012790 biolink:NamedThing amyotrophic lateral sclerosis type 10 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in TARDBP|frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|amyotrophic lateral sclerosis 10|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|ALS10|amyotrophic lateral sclerosis type 10|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|Ftld-TDP, Tardbp-related|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|TARDBP amyotrophic lateral sclerosis Orphanet:275872|MESH:C567429|OMIM:612069|UMLS:C3502417|DOID:0060201|GARD:0010497|Orphanet:803 https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10 owl:Class HGNC:11571 biolink:NamedThing TARDBP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006010 biolink:NamedThing hyaloid canal tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002270 biolink:NamedThing hyaloid artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030225 biolink:NamedThing macrophage differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. tmpte7i6ely_mondo_relaxed.owl macrophage cell differentiation owl:Class MONDO:0014819 biolink:NamedThing autosomal dominant Robinow syndrome 3 Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene. tmpte7i6ely_mondo_relaxed.owl Robinow syndrome, autosomal dominant 3|Robinow syndrome caused by mutation in DVL3|DRS3|autosomal dominant Robinow syndrome type 3|Robinow syndrome, autosomal dominant type 3|DVL3 Robinow syndrome UMLS:C4225164|ICD10:Q87.1|OMIM:616894|Orphanet:97360|DOID:0060767|Orphanet:3107 owl:Class HGNC:3087 biolink:NamedThing DVL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002150 biolink:NamedThing hypothalamic disorder Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. tmpte7i6ely_mondo_relaxed.owl hypothalamus disease or disorder|disease of hypothalamus|disease or disorder of hypothalamus|disorder of hypothalamus|hypothalamus disease UMLS:C0020655|DOID:1931|MESH:D007027|ICD9:253.9|SCTID:399100005 owl:Class MONDO:0002438 biolink:NamedThing acquired polycythemia An instance of polycythemia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired polycythemia (disease)|acquired polycythemia|polycythemia, secondary ICD9:289.0|NCIT:C27178|ICD10:D75.1|UMLS:C1318533|DOID:2834 owl:Class MONDO:0054698 biolink:NamedThing proteasome-associated autoinflammatory syndrome 1 tmpte7i6ely_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 1, digenic|PRAAS1|proteasome-associated autoinflammatory syndrome 1|autoinflammation, lipodystrophy, and dermatosis syndrome|JMP syndrome|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|Nakajo-Nishimura syndrome OMIM:256040 owl:Class HGNC:9545 biolink:NamedThing PSMB8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046541 biolink:NamedThing saliva secretion The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin. tmpte7i6ely_mondo_relaxed.owl salivation owl:Class MONDO:0003017 biolink:NamedThing malignant peritoneal solitary fibrous tumor A malignant form of peritoneal solitary fibrous tumor. tmpte7i6ely_mondo_relaxed.owl peritoneal solitary fibrous tumor, malignant|pleural and peritoneal solitary fibrous tumor DOID:4490 owl:Class UBERON:0001987 biolink:NamedThing placenta tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002643 biolink:NamedThing vestibular disorder Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. tmpte7i6ely_mondo_relaxed.owl vestibular labyrinth disease|disorder of vestibular labyrinth|disease or disorder of vestibular labyrinth|disorder of vestibular system|vestibular labyrinth disease or disorder|disease of vestibular labyrinth|vestibular system disease|disease of vestibular system|vertigo, vestibular disorder DOID:3426|ICD10:H81.90|MESH:D015837|ICD10:H81|ICD10:H81.9|UMLS:C0042594 owl:Class MONDO:0011125 biolink:NamedThing trichothiodystrophy 1, photosensitive tmpte7i6ely_mondo_relaxed.owl trichothiodystrophy, photosensitive|PIBIDS syndrome|trichothiodystrophy with congenital ichthyosis|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation|trichothiodystrophy 1, photosensitive|Tay syndrome|TTD1 OMIM:601675|Orphanet:670 owl:Class MONDO:0013997 biolink:NamedThing focal facial dermal dysplasia type IV Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. tmpte7i6ely_mondo_relaxed.owl focal facial dermal dysplasia 4|focal facial preauricular dysplasia|focal Facial dermal dysplasia type 4|FFDD4|FFDD type IV UMLS:C3554246|ICD10:Q82.8|Orphanet:398189|Orphanet:398166|OMIM:614974 owl:Class HGNC:20577 biolink:NamedThing CYP26C1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070507 biolink:NamedThing regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpte7i6ely_mondo_relaxed.owl regulation of microtubule cytoskeleton organisation|regulation of microtubule dynamics owl:Class HGNC:414 biolink:NamedThing ALDOA tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000070 biolink:NamedThing human construction A construction that has been assembled by deliberate human effort. tmpte7i6ely_mondo_relaxed.owl constructed feature owl:Class CL:0000748 biolink:NamedThing retinal bipolar neuron A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018227 biolink:NamedThing pulmonary lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056816 biolink:NamedThing vulvar neuroendocrine carcinoma A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. tmpte7i6ely_mondo_relaxed.owl vulvar high grade Neuroendocrine neoplasm|neuroendocrine carcinoma of mammalian vulva|mammalian vulva neuroendocrine carcinoma|vulvar high grade Neuroendocrine carcinoma|vulvar Neuroendocrine cancer|vulvar Neuroendocrine carcinoma UMLS:C4288002|NCIT:C128243 owl:Class CL:2000011 biolink:NamedThing dermis lymphatic vessel endothelial cell Any endothelial cell of lymphatic vessel that is part of a dermis. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:15:08Z cell owl:Class UBERON:0002067 biolink:NamedThing dermis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002521 biolink:NamedThing leukocyte differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpte7i6ely_mondo_relaxed.owl leucocyte differentiation|immune cell differentiation owl:Class NCBITaxon:4751 biolink:NamedThing Fungi tmpte7i6ely_mondo_relaxed.owl fungi|Mycota PMID:12684019|PMID:11062127|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7776 biolink:NamedThing Gnathostomata tmpte7i6ely_mondo_relaxed.owl jawed vertebrates|Gnathostomata GC_ID:1 ncbi_taxonomy owl:Class GO:0050766 biolink:NamedThing positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis. tmpte7i6ely_mondo_relaxed.owl upregulation of phagocytosis|up-regulation of phagocytosis|stimulation of phagocytosis|activation of phagocytosis|up regulation of phagocytosis owl:Class MONDO:0010914 biolink:NamedThing carnitine palmitoyl transferase II deficiency, severe infantile form The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. tmpte7i6ely_mondo_relaxed.owl CPT2, severe infantile form|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|Carnitine palmitoyl transferase deficiency type 2, severe infantile form|CPT 2 deficiency, hepatic|carnitine palmitoyl transferase II deficiency, severe infantile form|Cpt2 deficiency, infantile|CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|CPTII, severe infantile form|CPTII, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|CPT2, hepatocardiomuscular form|Carnitine Palmitoyltransferase 2 deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular Orphanet:157|Orphanet:228305|OMIM:600649|ICD10:E71.3|UMLS:C1833511|MESH:C563462 owl:Class HGNC:2330 biolink:NamedThing CPT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014213 biolink:NamedThing intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome tmpte7i6ely_mondo_relaxed.owl autosomal dominant intellectual disability 21|autosomal dominant non-syndromic intellectual disability 21|mental retardation, autosomal dominant 21|intellectual disability, autosomal dominant 21|intellectual disability, autosomal dominant type 21|autosomal dominant mental retardation 21|mental retardation, autosomal dominant type 21|MRD21 Orphanet:363611|ICD10:Q87.8|OMIM:615502|UMLS:C3809686|DOID:0070051 owl:Class HGNC:13723 biolink:NamedThing CTCF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005988 biolink:NamedThing toxocariasis A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. tmpte7i6ely_mondo_relaxed.owl infection by Toxascaris|Toxocara infectious disease|Toxocara disease or disorder|visceral larva migrans|Toxocara caused disease or disorder|Toxocara infection Orphanet:3343|ICD9:128.0|MESH:D014120|DOID:9790|MedDRA:10044269|GARD:0007788|MESH:D007816|NCIT:C34758|EFO:0007516|SCTID:406619001|ICD10:B83.0|UMLS:C0040553 owl:Class NCBITaxon:6264 biolink:NamedThing Toxocara tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013529 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 3 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene. tmpte7i6ely_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 3|TECRL catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL|CVPT3|CPVT3|catecholaminergic polymorphic ventricular tachycardia type 3|catecholaminergic polymorphic ventricular tachycardia 3 UMLS:C3151463|OMIM:614021|Orphanet:3286|ICD10:I47.2|DOID:0060677 owl:Class HGNC:27365 biolink:NamedThing TECRL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005446 biolink:NamedThing foramen rotundum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017878 biolink:NamedThing Chapare hemorrhagic fever Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. tmpte7i6ely_mondo_relaxed.owl UMLS:CN203927|SCTID:716584007|Orphanet:319244|ICD10:A96.8|DOID:0050198|UMLS:C4274434 owl:Class NCBITaxon:499556 biolink:NamedThing Chapare mammarenavirus tmpte7i6ely_mondo_relaxed.owl Chapare virus GC_ID:1 ncbi_taxonomy owl:Class CL:0002593 biolink:NamedThing smooth muscle cell of the internal thoracic artery A smooth muscle of the internal thoracic artery. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:01:41Z cell owl:Class MONDO:0004279 biolink:NamedThing glossopharyngeal motor neuropathy Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) tmpte7i6ely_mondo_relaxed.owl glossopharyngeal nerve motor peripheral neuropathy|motor peripheral neuropathy of glossopharyngeal nerve DOID:7558|NCIT:C27212|UMLS:C0751942 owl:Class MONDO:0021849 biolink:NamedThing alopecia macular degeneration growth retardation syndrome tmpte7i6ely_mondo_relaxed.owl alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation MESH:C538125|GARD:0000610 Editor note: check relationshop to EEM https://rarediseases.info.nih.gov/diseases/610/alopecia-macular-degeneration-growth-retardation owl:Class HP:0001596 biolink:NamedThing Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness. tmpte7i6ely_mondo_relaxed.owl Hair loss MSH:D000505|SNOMEDCT_US:278040002|UMLS:C0002170|MEDDRA:10001760|SNOMEDCT_US:56317004 HP:0008068|HP:0002238 human_phenotype owl:Class UBERON:0001915 biolink:NamedThing endothelium of capillary tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000435 biolink:NamedThing epithelial cell of lacrimal duct An epithelial cell that is part of the lacrimal duct. tmpte7i6ely_mondo_relaxed.owl FMA:70559 cell owl:Class GO:0140243 biolink:NamedThing regulation of translation at synapse Any process that regulates translation occurring at the synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001620 biolink:NamedThing louse-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. tmpte7i6ely_mondo_relaxed.owl Relapsing fever, louse-borne UMLS:C0152061|ICD10:A68.0|ICD9:087.0|NCIT:C128426|SCTID:14683004|DOID:13035 owl:Class MONDO:0014137 biolink:NamedThing precocious puberty, central, 2 Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene. tmpte7i6ely_mondo_relaxed.owl central precocious puberty caused by mutation in MKRN3|precocious puberty, central, 2|precocious puberty, central, type 2|CPPB2|MKRN3 central precocious puberty Orphanet:759|OMIM:615346|UMLS:C3809199 owl:Class HGNC:7114 biolink:NamedThing MKRN3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021948 biolink:NamedThing cutaneous tuberculosis tmpte7i6ely_mondo_relaxed.owl tuberculosis of skin|Tuberculosis of skin|Tuberculoderma|Skin Tuberculoses|tuberculosis cutis|tuberculoderma|Cutaneous Tuberculosis|Tuberculosis cutis|Skin Tuberculosis|Cutaneous Tuberculoses|Cutaneous tuberculosis|Tuberculosis, Skin|Tuberculoses, Skin|Tuberculoses, Cutaneous|cutaneous tuberculosis|Tuberculosis, Cutaneous SCTID:66986005|EFO:1001443|UMLS:C0041309 owl:Class MONDO:0007766 biolink:NamedThing Morgagni-Stewart-Morel syndrome Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Morgagni-Stewart-Morel syndrome|hyperostosis frontalis interna|MSM syndrome|hyperostosis frontalis interna, obesity, shortness and cognitive impairment MESH:D006957|Orphanet:77296|NCIT:C84772|OMIM:144800|SCTID:82054006|GARD:0008593|ICD10:M85.2 https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome owl:Class GO:1903999 biolink:NamedThing negative regulation of eating behavior Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior. tmpte7i6ely_mondo_relaxed.owl down regulation of eating behaviour|downregulation of eating behavior|downregulation of eating behaviour|inhibition of eating behaviour|down-regulation of eating behavior|down regulation of eating behavior|down-regulation of eating behaviour|negative regulation of eating behaviour|inhibition of eating behavior owl:Class GO:0042755 biolink:NamedThing eating behavior The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. tmpte7i6ely_mondo_relaxed.owl eating behaviour owl:Class MONDO:0006141 biolink:NamedThing cervical villoglandular adenocarcinoma A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern. tmpte7i6ely_mondo_relaxed.owl cervical villoglandular adenocarcinoma|cervical adenocarcinoma, villoglandular variant|villoglandular variant cervical mucinous adenocarcinoma|cervical villoglandular carcinoma|villoglandular adenocarcinoma of the cervix EFO:1000170|DOID:8338|ONCOTREE:VGCE|UMLS:C4289808|NCIT:C40208 owl:Class UBERON:0001260 biolink:NamedThing serosa of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001256 biolink:NamedThing wall of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034707 biolink:NamedThing differentiating neuroepithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006670 biolink:NamedThing central tendon of diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004313 biolink:NamedThing Decreased circulating antibody level An abnormally decreased level of immunoglobulin in blood. tmpte7i6ely_mondo_relaxed.owl Reduced immunoglobulin levels|Immunoglobulin deficiency|Decreased antibody level in blood|Decreased serum immunoglobulin|Decreased immunoglobulin level|Hypogammaglobulinemia UMLS:C0086438|UMLS:C4048270|SNOMEDCT_US:119250001|MSH:D000361 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2008-02-20T03:34:00Z HP:0010703 human_phenotype owl:Class MONDO:0003103 biolink:NamedThing nerve root neoplasm Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression. tmpte7i6ely_mondo_relaxed.owl nerve root tumor|neoplasms, nerve Root|tumor of nerve Root|neoplasm of the nerve Root|nerve Root tumor|tumor of the nerve Root|neoplasm of nerve Root|nerve Root tumors|nerve Root neoplasms|neoplasm of nerve root|nerve root neoplasm (disease)|tumor of nerve root UMLS:C1334946|NCIT:C5119|DOID:4698 owl:Class MONDO:0030860 biolink:NamedThing neuronopathy, distal hereditary motor, type 5C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene. tmpte7i6ely_mondo_relaxed.owl HMN5C|spinal muscular atrophy, distal, type 5C|neuropathy, distal hereditary motor, type VC|DHMN5C OMIM:619112 owl:Class HGNC:15832 biolink:NamedThing BSCL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008134 biolink:NamedThing autosomal dominant optic atrophy, classic form One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. tmpte7i6ely_mondo_relaxed.owl Kjer-type optic atrophy|OPA1|optic atrophy, Kjer type|optic atrophy 1|autosomal dominant optic atrophy, Kjer type|OAK|Kjer optic atrophy|optic atrophy, juvenile|optic atrophy type 1 OMIM:165500|Orphanet:98673|UMLS:CN207069|ICD10:H47.2|DOID:0111441|OMIM:610708|SCTID:717336005|OMIM:605293|GARD:0009890|UMLS:C0338508 owl:Class HGNC:13825 biolink:NamedThing ASPSCR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004173 biolink:NamedThing adenocarcinoma of skene gland origin A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of Skene gland origin|carcinoma of the paraurethral gland|Skene gland carcinoma|carcinoma of Skene gland|carcinoma of Skene's gland|carcinoma of paraurethral gland|paraurethral gland adenocarcinoma|paraurethral gland carcinoma|adenocarcinoma of Skene gland DOID:7284|NCIT:C39863|UMLS:C1527427 owl:Class UBERON:0009846 biolink:NamedThing embryonic cloacal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011504 biolink:NamedThing NDE1-related microhydranencephaly NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. tmpte7i6ely_mondo_relaxed.owl microhydranencephaly|hydranencephaly and microcephaly|MHAC MESH:C537555|ICD10:Q04.8|Orphanet:1665|Orphanet:443162|UMLS:C1857977|GARD:0010216|OMIM:605013 owl:Class HGNC:17619 biolink:NamedThing NDE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010171 biolink:NamedThing Usher syndrome type 1C A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl Usher syndrome type IC|Usher syndrome, Acadian variety|Usher syndrome type 1C|USHER syndrome, type IC|Usher syndrome type I Acadian variety|Usher syndrome, type I, Acadian variety|USH1C|Usher syndrome, type 1C ICD10:H35.5|OMIM:276904|DOID:0110830|UMLS:C1848604|Orphanet:886|GARD:0005437|Orphanet:231169 https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c owl:Class NCBITaxon:10508 biolink:NamedThing Adenoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009505 biolink:NamedThing mesenchyme of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009606 biolink:NamedThing methemoglobinemia due to deficiency of methemoglobin reductase tmpte7i6ely_mondo_relaxed.owl NADH-dependent methemoglobin reductase deficiency|methemoglobinemia, type 1|NADH cytochrome B5 reductase deficiency|methemoglobinemia, type 2|NADH-cytochrome B5 reductase deficiency|methemoglobinemia, congenital, autosomal recessive|methemoglobinemia due to deficiency of methemoglobin reductase|NADH diaphorase deficiency|NADH methemoglobin reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH-cytochrome B5 reductase deficiency, type 1 GARD:0003909|Orphanet:621|OMIM:250800 owl:Class HGNC:2873 biolink:NamedThing CYB5R3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001031 biolink:NamedThing purulent acute otitis media Acute form of suppurative otitis media. tmpte7i6ely_mondo_relaxed.owl suppurative otitis media, acute|acute suppurative otitis media SCTID:194281003|ICD9:382.02|DOID:10435|UMLS:C0271431 owl:Class CL:0002603 biolink:NamedThing astrocyte of the cerebellum An astrocyte of the cerebellum. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T06:57:27Z cell owl:Class OBO:CHR_9606-chr19p13.13 biolink:NamedThing 19p13.13 (Human) tmpte7i6ely_mondo_relaxed.owl 13800000 12600000 hg38 owl:Class OBO:CHR_9606-chr19p13.1 biolink:NamedThing 19p13.1 (Human) tmpte7i6ely_mondo_relaxed.owl 19900000 12600000 hg38 owl:Class UBERON:0005344 biolink:NamedThing peritoneal vaginal process tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015870 biolink:NamedThing lymph node of head tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005056 biolink:NamedThing external female genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000116 biolink:NamedThing 22-year-old human stage Young adult stage that refers to an adult who is over 22 and under 23. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000913 biolink:NamedThing hereditary spherocytosis type 2 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene. tmpte7i6ely_mondo_relaxed.owl hereditary spherocytosis type 2|spherocytosis, hereditary, 2|HS2|hereditary spherocytosis 2|hereditary spherocytosis caused by mutation in SPTB|spherocytosis, type 2|SPTB hereditary spherocytosis|SPH2 OMIM:616649|UMLS:C2674219|DOID:0110917 owl:Class MONDO:0002935 biolink:NamedThing penis basal cell carcinoma A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans. tmpte7i6ely_mondo_relaxed.owl penile basal cell carcinoma|basal cell carcinoma of the penis|penile basal cell cancer|skin basal cell carcinoma of penis|penis skin basal cell carcinoma|skin of penis skin basal cell carcinoma UMLS:C1518949|NCIT:C39961|DOID:4277 owl:Class UBERON:0001985 biolink:NamedThing corneal endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000325 biolink:NamedThing jejunal goblet cell A goblet cell that is part of the epithelium proper of jejunum. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium proper of jejunum FMA:263065 cell owl:Class Ne933e0811b804efba0a5c005494af9aa biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0003690 biolink:NamedThing fused sacrum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009210 biolink:NamedThing pharyngeal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:58958 biolink:NamedThing organosulfate oxoanion An organic anion of general formula RS(=O)2O(-) where R is an organyl group. tmpte7i6ely_mondo_relaxed.owl organosulfate oxoanions owl:Class CHEBI:25704 biolink:NamedThing organic sulfate Compounds of the general formula SO3HOR where R is an organyl group tmpte7i6ely_mondo_relaxed.owl organic sulfates owl:Class OBO:CHR_9606-chr17p13.1 biolink:NamedThing 17p13.1 (Human) tmpte7i6ely_mondo_relaxed.owl 10800000 6500000 hg38 owl:Class UBERON:0011973 biolink:NamedThing epiphysis of phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19412 biolink:NamedThing ZMYND10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010859 biolink:NamedThing atrioventricular septal defect 3 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene. tmpte7i6ely_mondo_relaxed.owl atrioventricular septal defect type 3|atrioventricular septal defect caused by mutation in GJA1|GJA1 atrioventricular septal defect|AVSD3|atrioventricular septal defect 3 Orphanet:98722|UMLS:C3275750|OMIM:600309 owl:Class HGNC:4274 biolink:NamedThing GJA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014041 biolink:NamedThing autism, susceptibility to, 19 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, type 19|susceptibility to autism 19|autism, susceptibility to, 19|AUTS19 OMIM:615091 Not listed in the OMIM series but the page directs you to 209850 for the full details. owl:Class HGNC:3287 biolink:NamedThing EIF4E tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013811 biolink:NamedThing combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. tmpte7i6ely_mondo_relaxed.owl COXPD9|MRPL3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 9|combined oxidative phosphorylation deficiency 9|combined oxidative phosphorylation deficiency caused by mutation in MRPL3 Orphanet:319509|ICD10:I42.2|DOID:0111472|SCTID:763209008|OMIM:614582|UMLS:C3281234 owl:Class HGNC:10379 biolink:NamedThing MRPL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002460 biolink:NamedThing lacrimal system cancer A cancer that involves the lacrimal apparatus. tmpte7i6ely_mondo_relaxed.owl cancer of lacrimal apparatus|lacrimal system neoplasms|neoplasm of the lacrimal system|lacrimal system neoplasm|lacrimal apparatus cancer|malignant neoplasm of lacrimal apparatus|tumor of the lacrimal system|tumor of lacrimal system|neoplasm of lacrimal system|malignant lacrimal apparatus neoplasm|lacrimal system tumor UMLS:C1334361|NCIT:C5102|DOID:292|SCTID:416510003 owl:Class UBERON:0003300 biolink:NamedThing roof plate of telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001799 biolink:NamedThing vitreous chamber of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010298 biolink:NamedThing Lesch-Nyhan syndrome Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. tmpte7i6ely_mondo_relaxed.owl complete hypoxanthine-guanine phosphoribosyltransferase deficiency|hypoxanthine guanine phosphoribosyltransferase complete deficiency|HPRT deficiency grade IV|Hprt1 deficiency|X-linked hyperuricemia|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|HPRT complete deficiency|Lesch Nyhan disease|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|Lesch-Nyhan syndrome|HPRT deficiency|Lesch Nyhan syndrome|X-linked hyperuricemia (disorder) [ambiguous]|Lesch-Nyhan syndrome, neurologic variant|HPRT deficiency, neurologic variant|HPRT deficiency, complete|LNS|HG-PRT deficiency|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|deficiency of IMP pyrophosphorylase|Lesch - Nyhan syndrome MESH:D007926|GARD:0007226|NCIT:C61255|UMLS:C0023374|SCTID:124275001|Orphanet:510|UMLS:CN205196|OMIM:308950|ICD9:277.2|MedDRA:10057589|OMIM:300322|ICD10:E79.1|SCTID:10406007|DOID:1919 owl:Class HP:0100716 biolink:NamedThing Self-injurious behavior Aggression towards oneself. tmpte7i6ely_mondo_relaxed.owl Self-injurious behaviors|Self-injurious behaviour|Self-injurious behavior|Self injury|Self-harm|Autoagression|Self-injurious behaviours UMLS:C0085271|MSH:D016728|SNOMEDCT_US:248062006 doelkens 2011-05-16T06:47:54Z human_phenotype owl:Class GO:1902668 biolink:NamedThing negative regulation of axon guidance Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance. tmpte7i6ely_mondo_relaxed.owl down-regulation of axon growth cone guidance|inhibition of axon growth cone guidance|downregulation of axon growth cone guidance|down regulation of axon pathfinding|inhibition of axon guidance|down regulation of axon guidance|negative regulation of axon growth cone guidance|downregulation of axon pathfinding|negative regulation of axon pathfinding|down-regulation of axon pathfinding|downregulation of axon chemotaxis|negative regulation of axon chemotaxis|downregulation of axon guidance|down regulation of axon growth cone guidance|inhibition of axon chemotaxis|inhibition of axon pathfinding|down-regulation of axon guidance|down-regulation of axon chemotaxis|down regulation of axon chemotaxis owl:Class CHEBI:38500 biolink:NamedThing EC 1.9.3.1 (cytochrome c oxidase) inhibitor An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1). tmpte7i6ely_mondo_relaxed.owl indophenolase inhibitor|indophenol oxidase inhibitors|cytochrome c oxidase inhibitor|cytochrome a3 inhibitor|cytochrome-c oxidase inhibitor|indophenol oxidase inhibitor|cytochrome c oxidase (EC 1.9.3.1) inhibitor|indophenolase inhibitors|ferrocytochrome c oxidase inhibitor|complex IV (mitochondrial electron transport) inhibitors|cytochrome oxidase inhibitors|cytochrome aa3 inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitors|mitochondrial complex IV inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitors|cytochrome oxidase inhibitor|EC 1.9.3.1 (cytochrome c oxidase) inhibitors|EC 1.9.3.1 inhibitors|mitochondrial complex IV inhibitors|complex IV (mitochondrial electron transport) inhibitor|ferrocytochrome c oxidase inhibitors|Warburg's respiratory enzyme inhibitors|cytochrome aa3 inhibitor|mitochondrial cytochrome-c oxidase inhibitors|cytochrome a3 inhibitors|ferrocytochrome-c:oxygen oxidoreductase inhibitor|cytochrome-c oxidase inhibitors|CcO inhibitor|cytochrome c oxidase inhibitors|NADH cytochrome c oxidase inhibitor|NADH cytochrome c oxidase inhibitors|Warburg's respiratory enzyme inhibitor|EC 1.9.3.1 inhibitor owl:Class MONDO:0013119 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 77 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 77|DFNB77|autosomal recessive nonsyndromic deafness 77|deafness, autosomal recessive 77|autosomal recessive deafness 77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1|LOXHD1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 77 DOID:0110525|OMIM:613079|ICD10:H90.3|UMLS:C2746083|MESH:C567543 owl:Class HGNC:26521 biolink:NamedThing LOXHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014908 biolink:NamedThing microcephaly 17, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene. tmpte7i6ely_mondo_relaxed.owl MCPH17|microcephaly 17, primary, autosomal recessive; MCPH17|cit autosomal recessive primary microcephaly|microcephaly 17, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CIT|autosomal recessive primary microcephaly caused by mutation in cit|CIT autosomal recessive primary microcephaly OMIM:617090|UMLS:C4310723|DOID:0070288 owl:Class HGNC:1985 biolink:NamedThing CIT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005670 biolink:NamedThing greater omentum mesothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013515 biolink:NamedThing subdivision of oviduct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007365 biolink:NamedThing seizures, benign familial neonatal, 1 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene. tmpte7i6ely_mondo_relaxed.owl seizures, benign familial neonatal, 1|epilepsy, benign neonatal, 1, and/or myokymia|seizures, benign familial neonatal, 1, and/or myokymia|KCNQ2 benign neonatal seizures|BFNS1|seizures, benign familial neonatal, type 1|benign neonatal seizures caused by mutation in KCNQ2 Orphanet:1949|MESH:C567743|UMLS:C3149074|OMIM:121200 owl:Class HGNC:6296 biolink:NamedThing KCNQ2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020693 biolink:NamedThing glycogen storage disease due to liver phosphorylase kinase deficiency A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. tmpte7i6ely_mondo_relaxed.owl Orphanet:264580|OMIM:306000|ICD10:E74.0 owl:Class HP:0000988 biolink:NamedThing Skin rash A red eruption of the skin. tmpte7i6ely_mondo_relaxed.owl Rash|Skin rash MSH:D005076|MEDDRA:10037844|SNOMEDCT_US:112625008|UMLS:C0015230|SNOMEDCT_US:271807003 human_phenotype owl:Class HsapDv:0000114 biolink:NamedThing 20-year-old human stage Young adult stage that refers to an adult who is over 20 and under 21. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021588 biolink:NamedThing eyelid sebaceous gland carcinoma A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases. tmpte7i6ely_mondo_relaxed.owl sebaceous gland carcinoma of the eyelid|carcinoma of sebaceous gland of eyelid|eyelid SGC|eyelid sebaceous gland carcinoma|sebaceous gland of eyelid carcinoma UMLS:C4525405|NCIT:C134831 owl:Class GO:0060037 biolink:NamedThing pharyngeal system development The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043009 biolink:NamedThing chordate embryonic development The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024336 biolink:NamedThing vulvar adenocarcinoma An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma. tmpte7i6ely_mondo_relaxed.owl vulvar adenocarcinoma|vulva adenocarcinoma|adenocarcinoma of the vulva|adenocarcinoma of vulva|mammalian vulva adenocarcinoma UMLS:C1336975|DOID:2098|Orphanet:494454|NCIT:C6380 owl:Class MONDO:0011408 biolink:NamedThing hereditary spastic paraplegia 10 Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spastic paraplegia type 10|hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10, autosomal dominant|hereditary spastic paraplegia type 10|autosomal dominant spastic paraplegia|spastic paraplegia 10|autosomal dominant spastic paraplegia 10|SPG10|KIF5A hereditary spastic paraplegia|spastic paraplegia 10 with or without peripheral neuropathy GARD:0009590|Orphanet:100991|DOID:0110763|MESH:C537482|ICD10:G11.4|UMLS:C4518536|UMLS:C1858712|OMIM:604187|SCTID:732948003 owl:Class HGNC:6323 biolink:NamedThing KIF5A tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001501 biolink:NamedThing radiation from a manufactured product An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a manufactured product. tmpte7i6ely_mondo_relaxed.owl anthropogenic radiation|artificial radiation owl:Class ENVO:00003074 biolink:NamedThing manufactured product A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. tmpte7i6ely_mondo_relaxed.owl manufactured good owl:Class MONDO:0009287 biolink:NamedThing glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. tmpte7i6ely_mondo_relaxed.owl G6P deficiency type 1a|GSD Ia|glycogen storage disease caused by mutation in G6PC|GSD due to G6P deficiency type 1a|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|GSD1|glycogen storage disease due to G6P deficiency type Ia|GSDIa|glycogenosis due to glucose-6-phosphatase deficiency type 1a|glucose-6-phosphatase deficiency glycogen storage disease|G6PC glycogen storage disease|GSD type 1a|glycogen storage disease type Ia|glycogen storage disease type 1a|glycogen storage disease 1A|GSD due to G6P deficiency type Ia|GSD1A|glucose-6-phosphatase deficiency|glycogen storage disease Ia|glycogenosis due to glucose-6-phosphatase deficiency type Ia|Von Gierke disease|glycogen storage disease 1|glycogenosis type Ia Orphanet:79258|UMLS:CN069618|OMIM:232200|SCTID:444707001|UMLS:C2919796|MESH:C538655|ICD10:E74.0|GARD:0007864|Orphanet:364|UMLS:CN205860 owl:Class HGNC:4056 biolink:NamedThing G6PC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010484 biolink:NamedThing hearing loss, X-linked 6 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. tmpte7i6ely_mondo_relaxed.owl deafness, X-linked type 6|COL4A6 X-linked nonsyndromic deafness|X-linked nonsyndromic deafness caused by mutation in COL4A6|deafness, X-linked 6|DFNX6 UMLS:C3806737|Orphanet:90625|OMIM:300914|DOID:0111740 owl:Class MONDO:0013184 biolink:NamedThing congenital diarrhea 5 with tufting enteropathy Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. tmpte7i6ely_mondo_relaxed.owl DIAR5|intestinal epithelial dysplasia|congenital diarrhea 5 with tufting enteropathy|intestinal epithelial cell dysplasia|IED|enteropathy, congenital tufting|congenital enteropathy|secretory diarrhea caused by mutation in EPCAM|diarrhea 5, with tufting enteropathy, congenital|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|congenital tufting enteropathy|congenital familial intractable diarrhea with enterocytes assembly abnormalities|EPCAM secretory diarrhea|tufting enteropathy UMLS:C2750737|MESH:C567703|ICD10:P78.3|Orphanet:92050|DOID:0060776|OMIM:613217|SCTID:715669000|UMLS:C4275062|GARD:0010630 owl:Class HGNC:11529 biolink:NamedThing EPCAM tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001510 biolink:NamedThing Growth delay A deficiency or slowing down of growth pre- and postnatally. tmpte7i6ely_mondo_relaxed.owl Poor growth|Growth failure|Delayed growth|Growth retardation|Growth deficiency|Very poor growth|Growth delay|Retarded growth UMLS:C1837385|UMLS:C0151686|UMLS:C0456070|UMLS:C0878787|SNOMEDCT_US:444896005|UMLS:C3552463|SNOMEDCT_US:276617005|SNOMEDCT_US:59576002 Poor or abnormally slow gains in weight or height in a child. HP:0001512|HP:0001517|HP:0008870|HP:0008893|HP:0001434|HP:0001532|HP:0001514|HP:0008926|HP:0008886|HP:0008847 human_phenotype owl:Class CHEBI:60056 biolink:NamedThing cocaine(1+) The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl cocaine|(1R,2R,3S,5S)-3-(benzoyloxy)-2-(methoxycarbonyl)-8-methyl-8-azoniabicyclo[3.2.1]octane|cocaine cation owl:Class UBERON:0034710 biolink:NamedThing spinal cord ventricular layer tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32594 biolink:NamedThing barium atom tmpte7i6ely_mondo_relaxed.owl baryum|bario|barium|Barium|56Ba|Ba owl:Class OBO:CHR_9606-chr8p23.1 biolink:NamedThing 8p23.1 (Human) tmpte7i6ely_mondo_relaxed.owl 12800000 6300000 hg38 owl:Class OBO:CHR_9606-chr8p23 biolink:NamedThing 8p23 (Human) tmpte7i6ely_mondo_relaxed.owl 12800000 0 hg38 owl:Class UBERON:0009114 biolink:NamedThing cervical thymus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001298 biolink:NamedThing congenital mitral valve insufficiency Dysfunction of the mitral valve characterized by incomplete valve closure. tmpte7i6ely_mondo_relaxed.owl mitral insufficiency|congenital mitral insufficiency|congenital mitral regurgitation|insufficiency, mitral|mitral valve insufficiency|mitral valve incompetence|congenital insufficiency of mitral valve|mitral regurgitation ICD10:Q23.3|DOID:11502|SCTID:29928006|ICD9:746.6|NCIT:C50888|UMLS:C0158619|ICD9:396.3|MESH:D008944 owl:Class NCBITaxon:121225 biolink:NamedThing Pediculus humanus tmpte7i6ely_mondo_relaxed.owl human louse|head lice|human lice|body lice PMID:18434207|PMID:23049889|GC_ID:1 ncbi_taxonomy owl:Class ENVO:01001243 biolink:NamedThing forest ecosystem An ecosystem which is determined by communities of plants with a tree growth form and in which members of those communities form continuous or discontinuous regions of canopy cover. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020117 biolink:NamedThing alpha granule disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN207009|ICD10:D69.1|Orphanet:98455 owl:Class GO:0031091 biolink:NamedThing platelet alpha granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). tmpte7i6ely_mondo_relaxed.owl platelet alpha-granule owl:Class HP:0002066 biolink:NamedThing Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. tmpte7i6ely_mondo_relaxed.owl Ataxia of gait|Inability to coordinate movements when walking|Ataxic gait SNOMEDCT_US:25136009|MSH:D020234|UMLS:C0751837 HP:0002379 human_phenotype owl:Class FOODON:00001258 biolink:NamedThing food (fermented) tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037002 biolink:NamedThing benign phyllodes tumor A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features. tmpte7i6ely_mondo_relaxed.owl benign cystosarcoma phyllodes|benign phyllodes tumor|phyllodes tumor, benign|benign phyllodes neoplasm NCIT:C4274|ICDO:9020/0 owl:Class OBO:CHR_9606-chr17q11 biolink:NamedThing 17q11 (Human) tmpte7i6ely_mondo_relaxed.owl 33500000 25100000 hg38 owl:Class OBO:CHR_9606-chr17q1 biolink:NamedThing 17q1 (Human) tmpte7i6ely_mondo_relaxed.owl 39800000 25100000 hg38 owl:Class MONDO:0013371 biolink:NamedThing dilated cardiomyopathy 1U Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene. tmpte7i6ely_mondo_relaxed.owl CMD1U|dilated cardiomyopathy type 1U|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|PSEN1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1U|cardiomyopathy, dilated, type 1U DOID:0110455|MESH:C566296|UMLS:C3160720|Orphanet:154|OMIM:613694|ICD10:I42.0 owl:Class HGNC:9508 biolink:NamedThing PSEN1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1975 biolink:NamedThing VSX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020658 biolink:NamedThing infiltrating ureter transitional cell carcinoma tmpte7i6ely_mondo_relaxed.owl DOID:6845 owl:Class GO:1990625 biolink:NamedThing negative regulation of cytoplasmic translational initiation in response to stress Any process that stops, prevents or reduces the rate of cytoplasmic translation initiation as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033554 biolink:NamedThing cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014667 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene. tmpte7i6ely_mondo_relaxed.owl CEMCOX3|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3|fatal infantile encephalocardiomyopathy caused by mutation in COA5|COA5 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3 UMLS:C4225154|DOID:0080359|OMIM:616500|Orphanet:1561 owl:Class HGNC:33848 biolink:NamedThing COA5 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17p1 biolink:NamedThing 17p1 (Human) tmpte7i6ely_mondo_relaxed.owl 25100000 0 hg38 owl:Class UBERON:0004944 biolink:NamedThing submucosa of trigone of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001257 biolink:NamedThing trigone of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:60466 biolink:NamedThing peptide zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. tmpte7i6ely_mondo_relaxed.owl peptide zwitterions owl:Class MONDO:0004710 biolink:NamedThing uterus carcinoma in situ A carcinoma in situ involving a uterus. tmpte7i6ely_mondo_relaxed.owl uterus in situ carcinoma|carcinoma in situ of uterus|stage 0 uterus carcinoma SCTID:92788005|UMLS:C0686237|DOID:9108|ICD9:233.2 owl:Class UBERON:0000995 biolink:NamedThing uterus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007595 biolink:NamedThing factor VII and Factor VIII, combined deficiency of tmpte7i6ely_mondo_relaxed.owl factor VII and Factor VIII, combined deficiency of|familial multiple coagulation Factor deficiency 4|factor 7 and Factor VIII, combined deficiency of|multiple coagulation Factor deficiency 4 UMLS:C1851377|OMIM:134430|MESH:C565025 owl:Class HGNC:25781 biolink:NamedThing ARMC5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011921 biolink:NamedThing connecting stalk blood islands tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008996 biolink:NamedThing COACH syndrome 1 A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). tmpte7i6ely_mondo_relaxed.owl Joubert syndrome with congenital hepatic fibrosis|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|COACH syndrome|gentile syndrome|cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|JS-H|Joubert syndrome with hepatic defect MESH:C536430|ICD10:Q04.3|Orphanet:1454|DOID:0111589|GARD:0001410|UMLS:C1857662|SCTID:721847002|OMIM:216360 owl:Class MONDO:0015285 biolink:NamedThing Carney complex Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. tmpte7i6ely_mondo_relaxed.owl lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|Myxoma - spotty pigmentation - endocrine overactivity|Carney Complex, type 1|atrial myxoma with lentigines|Carney syndrome|lamb syndrome|lamb|CNC|Carney's syndrome|nevi, atrial myxoma, skin myxoma, ephelides syndrome|Carney Complex, type 2|Myxoma-spotty pigmentation-endocrine overactivity syndrome|Carney complex|NAME syndrome OMIM:605244|NCIT:C4705|SCTID:733491005|UMLS:C0406810|GARD:0001119|ICD10:D44.8|OMIM:608837|DOID:0050471|OMIM:160980|MESH:D056733|Orphanet:1359 owl:Class MONDO:0020178 biolink:NamedThing palpebral lentiginosis A lentigo that involves the skin of eyelid. tmpte7i6ely_mondo_relaxed.owl skin of eyelid lentigo Orphanet:98587 owl:Class HGNC:24858 biolink:NamedThing MFF tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001176 biolink:NamedThing invertebrate animal food product tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00002452 biolink:NamedThing invertebrate animal Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata. tmpte7i6ely_mondo_relaxed.owl animal owl:Class CL:0000018 biolink:NamedThing spermatid A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa. tmpte7i6ely_mondo_relaxed.owl nematoblast EMAPA:31486|WBbt:0006800|CALOHA:TS-0950|FMA:72294|FBbt:00004942|BTO:0001274 cell owl:Class HP:0004841 biolink:NamedThing Reduced factor XII activity Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. tmpte7i6ely_mondo_relaxed.owl Factor XII deficiency|Hageman factor deficiency UMLS:C0015526|MSH:D005175|SNOMEDCT_US:46981006 HP:0005514|HP:0005551|HP:0008286 human_phenotype owl:Class GO:0070134 biolink:NamedThing positive regulation of mitochondrial translational initiation Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl positive regulation of mitochondrial translation initiation owl:Class GO:0070124 biolink:NamedThing mitochondrial translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpte7i6ely_mondo_relaxed.owl mitochondrial translation initiation owl:Class MONDO:0013736 biolink:NamedThing myopathy, centronuclear, 3 Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant centronuclear myopathy caused by mutation in MYF6|myopathy, centronuclear, 3|MYF6 autosomal dominant centronuclear myopathy|myopathy, centronuclear, type 3|CNM3 Orphanet:169189|UMLS:C3280703|OMIM:614408 owl:Class HGNC:7566 biolink:NamedThing MYF6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006910 biolink:NamedThing phagocytosis, recognition The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell. tmpte7i6ely_mondo_relaxed.owl recognition of phagocytosed substance by phagocytic cell owl:Class GO:0038024 biolink:NamedThing cargo receptor activity Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles. tmpte7i6ely_mondo_relaxed.owl transport receptor activity|endocytic receptor activity|receptor activity|receptor activity involved in receptor-mediated endocytosis owl:Class UBERON:0001113 biolink:NamedThing lobe of liver tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8008 biolink:NamedThing NRXN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010909 biolink:NamedThing UV-sensitive syndrome 1 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene. tmpte7i6ely_mondo_relaxed.owl UV-sensitive syndrome caused by mutation in ERCC6|UV-sensitive syndrome 1|UV-sensitive syndrome type 1|ERCC6 UV-sensitive syndrome|UVSS1 UMLS:C3551173|OMIM:600630|Orphanet:178338 owl:Class HGNC:3438 biolink:NamedThing ERCC6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004943 biolink:NamedThing orbit sarcoma A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas. tmpte7i6ely_mondo_relaxed.owl orbit of skull sarcoma|sarcoma of orbit of skull|sarcoma of the orbit|orbital sarcoma|sarcoma of orbit UMLS:C1335131|DOID:9987|NCIT:C6095|SCTID:699354006 owl:Class UBERON:0001697 biolink:NamedThing orbit of skull tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004365 biolink:NamedThing vitelline blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004374 biolink:NamedThing vitelline vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012072 biolink:NamedThing palatal part of dermatocranium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007375 biolink:NamedThing roof of mouth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012085 biolink:NamedThing primary ciliary dyskinesia 3 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in DNAH5|ciliary dyskinesia, primary, type 3|DNAH5 primary ciliary dyskinesia|primary ciliary dyskinesia 3 with or without situs inversus|primary ciliary dyskinesia 3|primary ciliary dyskinesia type 3|ciliary dyskinesia, primary, 3|ciliary dyskinesia, primary, 3, with or without situs inversus|CILD3 DOID:0110599|MESH:C535278|ICD10:Q34.8|UMLS:C1837618|OMIM:608644 owl:Class HGNC:2950 biolink:NamedThing DNAH5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700023 biolink:NamedThing chromosome 16 disorder Chromosomal disorder in which chromosome 16 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0003598 biolink:NamedThing median nerve neuropathy Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome). tmpte7i6ely_mondo_relaxed.owl peripheral neuropathy of median nerve|median nerve peripheral neuropathy|median nerve palsy|median neuropathy ICD10:G56.1|SCTID:397828008|ICD10:G56.10|MESH:D020423|DOID:571|ICD9:354.1 owl:Class UBERON:0001148 biolink:NamedThing median nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013904 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related|MDDGA8|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8|POMGNT2 muscular dystrophy-dystroglycanopathy, type A|muscle-eye-brain-POMGNT2 related Orphanet:899|OMIM:614830|DOID:0111231|UMLS:C3553813 owl:Class HGNC:20249 biolink:NamedThing SPRED1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012479 biolink:NamedThing congenital malabsorptive diarrhea 4 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported. tmpte7i6ely_mondo_relaxed.owl congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|congenital malabsorptive diarrhea type 4|NEUROG3 congenital diarrhea|diarrhea 4, malabsorptive, congenital|DIAR4|enteric anendocrinosis|congenital diarrhea caused by mutation in NEUROG3 SCTID:722392003|MESH:C563673|OMIM:610370|DOID:0060779|Orphanet:83620|UMLS:C1835888|ICD10:P78.3 owl:Class HGNC:13806 biolink:NamedThing NEUROG3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044249 biolink:NamedThing cellular biosynthetic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular synthesis|cellular anabolism|cellular formation|cellular biosynthesis owl:Class MONDO:0016579 biolink:NamedThing dominant hypophosphatemia with nephrolithiasis or osteoporosis tmpte7i6ely_mondo_relaxed.owl Orphanet:244305|UMLS:CN228623|OMIM:612287|OMIM:612286 owl:Class GO:0006366 biolink:NamedThing transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). tmpte7i6ely_mondo_relaxed.owl general transcription from RNA polymerase II promoter|transcription from Pol II promoter|transcription from RNA polymerase II promoter|gene-specific transcription from RNA polymerase II promoter|RNA polymerase II transcription factor activity|specific transcription from RNA polymerase II promoter owl:Class CHEBI:17334 biolink:NamedThing penicillin Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. tmpte7i6ely_mondo_relaxed.owl Penicillin|penicillins owl:Class CHEBI:50904 biolink:NamedThing allergen A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. tmpte7i6ely_mondo_relaxed.owl alergeno|allergenic agent|allergene owl:Class MONDO:0016130 biolink:NamedThing fungal myositis tmpte7i6ely_mondo_relaxed.owl ICD10:M60.0|UMLS:C0410251|SCTID:240111007|Orphanet:207000 owl:Class CL:1001601 biolink:NamedThing adrenal gland glandular cell Hormone secreting cell located in the cortex of adrenal gland. Glandular cells in the adrenal cortex secrete mineralocorticoids, glucocorticoids and androgens. tmpte7i6ely_mondo_relaxed.owl suprarenal gland glandular cell|adrenal gland glandular cells|adrenal glandular cell CALOHA:TS-2177 owl:Class UBERON:0001954 biolink:NamedThing Ammon's horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011822 biolink:NamedThing Bartter disease type 3 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. tmpte7i6ely_mondo_relaxed.owl Bartter disease type 3|Bartter syndrome type III|BARTS3|Bartter syndrome, type 3|adult Bartter syndrome|Bartter syndrome classic|Bartter syndrome, type 3, with hypocalciuria|Bartter syndrome type 3|Bartter syndrome, classic|classic Bartter syndrome ICD10:E26.8|UMLS:C1846343|DOID:0110144|OMIM:607364|Orphanet:93605|SCTID:700111000|Orphanet:112|GARD:0009659 owl:Class HGNC:2027 biolink:NamedThing CLCNKB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001988 biolink:NamedThing feces Portion of semisolid bodily waste discharged through the anus[MW,modified] tmpte7i6ely_mondo_relaxed.owl portion of feces|portion of guano|merde@fr|droppings|excreta|scat|excrement|fecal matter|dung|guano|cow dung|portion of excrement|portionem cacas|stool|partie de la merde@fr|matières fécales@fr|portion of dung|fecal material|teil der fäkalien@de|faeces|fewmet|frass|ordure|spoor|portion of fecal matter|porción de mierda@en|portion of scat|cow pat|portion of faeces|spraint|portion of fecal material|piece of shit owl:Class HGNC:5244 biolink:NamedThing HSPA9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035132 biolink:NamedThing auditory ossicle pre-cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000276 biolink:NamedThing ecoregion A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000280 biolink:NamedThing ecozone Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014887 biolink:NamedThing distal epiphysis of distal phalanx of digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008895 biolink:NamedThing hereditary arterial and articular multiple calcification syndrome Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. tmpte7i6ely_mondo_relaxed.owl arterial calcification and distal joint calcification|CALJA|arterial calcification due to CD73 deficiency|arterial calcification due to deficiency of Cd73|calcification of joints and arteries|ACDC OMIM:211800|MESH:C565891|DOID:0111582|SCTID:718602007|GARD:0010762|UMLS:C4305347|UMLS:C1859372|Orphanet:289601 owl:Class HGNC:8021 biolink:NamedThing NT5E tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003292 biolink:NamedThing meninx of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001331 biolink:NamedThing skin of penis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0037447 biolink:NamedThing wall of male urethra tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1q44 biolink:NamedThing 1q44 (Human) tmpte7i6ely_mondo_relaxed.owl 248956422 243500000 hg38 owl:Class UBERON:0008447 biolink:NamedThing intertarsal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014734 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 14 tmpte7i6ely_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, 14|epilepsy, idiopathic generalized, susceptibility to, 14; EIG14|EIG14|epilepsy, idiopathic generalized, susceptibility to, type 14|susceptibility to idiopathic generalized epilepsy 14 OMIM:616685|DOID:0111315 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0001082 biolink:NamedThing lymph node cancer A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004 tmpte7i6ely_mondo_relaxed.owl cancer of lymph node|malignant lymph node neoplasm|lymph node neoplasm|malignant neoplasm of lymph node|lymph node cancer ICD9:239.89|NCIT:C35497|SCTID:127232002|NCIT:C35812|DOID:10619 owl:Class MONDO:0009141 biolink:NamedThing torsion dystonia 2 Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. tmpte7i6ely_mondo_relaxed.owl DYT2|dystonia musculorum deformans 2|torsion dystonia 2, autosomal recessive type|autosomal recessive torsion dystonia 2|dystonic disorder caused by mutation in HPCA|dystonia musculorum deformans type 2|HPCA dystonic disorder|primary dystonia, DYT2 type|dystonia 2, torsion, autosomal recessive|torsion dystonia type 2 NCIT:C123415|MESH:C538006|UMLS:C1857093|Orphanet:99657|GARD:0002028|OMIM:224500|ICD10:G24.1|DOID:0090038 owl:Class HGNC:5144 biolink:NamedThing HPCA tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005879 biolink:NamedThing pharyngeal cleft tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009864 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, mitochondrial tmpte7i6ely_mondo_relaxed.owl PEPCK 2 deficiency|PCK2 deficiency|PCKDM|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|phosphoenolpyruvate carboxykinase 2 deficiency|PEPCK2 deficiency|PEPCK2 OMIM:261650|UMLS:C1849821|GARD:0004279|Orphanet:2880|MESH:C564890|Orphanet:79317 owl:Class HGNC:8725 biolink:NamedThing PCK2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013636 biolink:NamedThing epithelium of intestinal villus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12011 biolink:NamedThing TPM2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003565 biolink:NamedThing hindbrain dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024239 biolink:NamedThing congenital anomaly of cardiovascular system A disease that has its basis in the disruption of cardiovascular system development. tmpte7i6ely_mondo_relaxed.owl congenital cardiovascular anomaly|congenital Abnormality of the circulatory system|congenital cardiovascular Abnormality|congenital cardiovascular disorder|congenital anomaly of cardiovascular system|disorder of cardiovascular system development|cardiovascular system development disease ICD9:747.9|NCIT:C35729|ICD9:747.89|SCTID:9904008 owl:Class GO:0072359 biolink:NamedThing circulatory system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. tmpte7i6ely_mondo_relaxed.owl cardiovascular system development owl:Class HGNC:15946 biolink:NamedThing RP1L1 tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03412112 biolink:NamedThing mollusc *Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca] tmpte7i6ely_mondo_relaxed.owl mollusk|Mollusca owl:Class MONDO:0011876 biolink:NamedThing juvenile absence epilepsy Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. tmpte7i6ely_mondo_relaxed.owl epilepsy, juvenile absence, susceptibility to, type 1|epilepsy, juvenile absence, susceptibility to, 1|JAE|epilepsy juvenile absence|EJA1|susceptibility to juvenile absence epilepsy 1 OMIM:607631|GARD:0002162|UMLS:C4317339|ICD10:G40.3|DOID:0060172|SCTID:230413002|NCIT:C129868|Orphanet:1941|OMIMPS:607631 owl:Class MONDO:0007744 biolink:NamedThing cholesterol-ester transfer protein deficiency tmpte7i6ely_mondo_relaxed.owl hyperalphalipoproteinemia type 1|CEPT deficiency|CETP deficiency|familial hyperalphalipoproteinemia|cholesterol ester transfer Protein deficiency|HALP1|Hdlcq10|hyperalphalipoproteinemia 1|high density lipoprotein cholesterol level quantitative trait locus 10 UMLS:C0342883|Orphanet:79506|SCTID:15771000119109|UMLS:CN205999|OMIM:614028|UMLS:C3875011|OMIM:143470|ICD10:E78.4|DOID:0111368 owl:Class HGNC:1869 biolink:NamedThing CETP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014648 biolink:NamedThing Al-Raqad syndrome tmpte7i6ely_mondo_relaxed.owl ARS|AL-RAQAD syndrome|Al-Raqad syndrome UMLS:C4085595|OMIM:616459 owl:Class HGNC:29812 biolink:NamedThing DCPS tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001287 biolink:NamedThing Meningitis Inflammation of the meninges. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:7180009|UMLS:C0025289|MSH:D008581 human_phenotype owl:Class UBERON:0001102 biolink:NamedThing cartilage of main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012180 biolink:NamedThing arrhythmogenic right ventricular dysplasia 9 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia type 9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|familial arrhythmogenic right ventricular dysplasia 9|ARVD9|arrhythmogenic right ventricular dysplasia 9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 9|arrhythmogenic right ventricular dysplasia, familial, 9|arrhythmogenic right ventricular dysplasia, familial, type 9|ARVC9 UMLS:C1836906|OMIM:609040|DOID:0110077|Orphanet:217656|ICD10:I42.8|MESH:C563808 owl:Class HGNC:9024 biolink:NamedThing PKP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012411 biolink:NamedThing giant axonal neuropathy 2 Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene. tmpte7i6ely_mondo_relaxed.owl giant axonal neuropathy 2, autosomal dominant|giant axonal neuropathy caused by mutation in DCAF8|HMSN2 with giant axons|CMT2 with giant axons|giant axonal neuropathy type 2|GAN2|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|DCAF8 giant axonal neuropathy|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons UMLS:C1864695|DOID:0090069|Orphanet:401964|UMLS:CN226146|GARD:0012447|OMIM:610100|ICD10:G60.0 owl:Class MONDO:0002522 biolink:NamedThing tenosynovial giant cell tumor A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse. tmpte7i6ely_mondo_relaxed.owl tenosynovial giant cell neoplasm|giant cell neoplasm of the Tenosynovium|tenosynovial giant cell tumor|giant cell tumor of tendon sheath|tendon sheath giant cell tumor|giant cell neoplasm of tendon sheath|giant cell neoplasm of Tenosynovium|giant cell tumor of the Tenosynovium|fibrous histiocytoma of tendon sheath|giant cell tumor of Tenosynovium|tendon sheath giant cell neoplasm EFO:1000562|UMLS:C1318543|ICD9:727.89|SCTID:310605004|ICDO:9252/0|DOID:314|SCTID:95413004|ICD9:727.02|NCIT:C3402 owl:Class MONDO:0013869 biolink:NamedThing adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. tmpte7i6ely_mondo_relaxed.owl 2,8-dihydroxyadenine urolithiasis|urolithiasis, Dha|2,8-dihydroxyadeninuria disease|nephrolithiasis, Dha|APRTD|Dihydroxyadeninuria|urolithiasis, 2,8-dihydroxyadenine|APRT deficiency|adenine phosphoribosyltransferase deficiency NCIT:C121564|Orphanet:976|DOID:0060350|GARD:0010666|UMLS:C0268120|ICD10:E79.8|SCTID:124274002|MESH:C538228|OMIM:614723|GARD:0000546 https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria owl:Class MONDO:0001790 biolink:NamedThing spinal cord lipoma A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare. tmpte7i6ely_mondo_relaxed.owl spinal cord lipoma|lipoma of spinal cord SCTID:189017000|NCIT:C4619|ICD9:214.8|UMLS:C0347446|DOID:13743 owl:Class ECTO:9001804 biolink:NamedThing exposure to protein synthesis inhibitor An exposure to protein synthesis inhibitor. tmpte7i6ely_mondo_relaxed.owl exposure to protein synthesis inhibitor owl:Class CHEBI:48001 biolink:NamedThing protein synthesis inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. tmpte7i6ely_mondo_relaxed.owl protein synthesis inhibitors|protein synthesis antagonists|protein synthesis antagonist owl:Class CL:0002422 biolink:NamedThing enucleated reticulocyte A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0864|FMA:66785 tmeehan 2010-10-15T09:24:08Z cell owl:Class UBERON:0002194 biolink:NamedThing capsule of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007307 biolink:NamedThing pronephric glomerular basement membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004739 biolink:NamedThing pronephric glomerulus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024487 biolink:NamedThing nail infection An infectious process affecting the nail. tmpte7i6ely_mondo_relaxed.owl nail infection NCIT:C78493|UMLS:C0343026 owl:Class MONDO:0014730 biolink:NamedThing microcephaly 16, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl microcephaly 16, primary, autosomal recessive|microcephaly 16, primary, autosomal recessive; MCPH16|MCPH16 DOID:0070289|OMIM:616681|UMLS:C4225249 owl:Class HGNC:29101 biolink:NamedThing ANKLE2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001652 biolink:NamedThing scrotum melanoma A melanoma (disease) that involves the scrotum. tmpte7i6ely_mondo_relaxed.owl scrotum melanoma (disease)|melanoma of the scrotum|scrotal melanoma|melanoma (disease) of scrotum|melanoma of scrotum UMLS:C1331544|DOID:13160|NCIT:C7361 owl:Class CHEBI:26714 biolink:NamedThing sodium salt Any alkali metal salt having sodium(1+) as the cation. tmpte7i6ely_mondo_relaxed.owl Natriumsalz|Natriumsalze|sodium salts owl:Class UBERON:0001119 biolink:NamedThing right lobe of thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010122 biolink:NamedThing congenital thrombotic thrombocytopenic purpura Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. tmpte7i6ely_mondo_relaxed.owl familial TTP|congenital TTP|TTP, congenital|congenital ADAMTS13 deficiency|Upshaw-Schulman syndrome|USS|thrombotic thrombocytopenic purpura, familial|congenital thrombotic thrombocytopenic purpura|Schulman-Upshaw syndrome|Microangiopathic hemolytic Anemia, congenital|TTP|thrombotic thrombocytopenic purpura, congenital|hereditary thrombotic thrombocytopenic purpura|congenital ADAMTS-13 deficiency|thrombotic microangiopathy, familial|Microangiopathic hemolytic Anemia|Upshaw Factor, deficiency of ICD9:287.33|Orphanet:93583|SCTID:373420004|GARD:0009430|NCIT:C131657|Orphanet:54057|ICD10:M31.3|OMIM:274150 owl:Class UBERON:0009773 biolink:NamedThing renal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C16273 biolink:NamedThing Alcohol Consumption Consumption of liquids containing ethanol, including the behaviors associated with drinking the alcohol. tmpte7i6ely_mondo_relaxed.owl Alcohol Consumption owl:Class MONDO:0024475 biolink:NamedThing squamous cell intraepithelial neoplasia tmpte7i6ely_mondo_relaxed.owl sil|squamous cell intraepithelial neoplasia|SIN|squamous intraepithelial lesion NCIT:C8334 owl:Class CL:0000076 biolink:NamedThing squamous epithelial cell tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-1249 cell owl:Class MONDO:0015023 biolink:NamedThing MYPN-related myopathy Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions. tmpte7i6ely_mondo_relaxed.owl MYPN nemaline myopathy|nemaline myopathy caused by mutation in MYPN|nemaline myopathy type 11|MYPN-related myopathy|nemaline myopathy 11, autosomal recessive|nemaline myopathy 11|NEM11 UMLS:C4479695|UMLS:C4479186|UMLS:CN240509|OMIM:617336|DOID:0110933 owl:Class GO:0045648 biolink:NamedThing positive regulation of erythrocyte differentiation Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of erythrocyte differentiation|positive regulation of RBC differentiation|upregulation of erythrocyte differentiation|positive regulation of red blood cell differentiation|activation of erythrocyte differentiation|up regulation of erythrocyte differentiation|up-regulation of erythrocyte differentiation owl:Class MONDO:0020701 biolink:NamedThing brachydactyly type A1A tmpte7i6ely_mondo_relaxed.owl Farabee-type Brachydactyly|BRACHYDACTYLY, type A1|BDA1 OMIM:112500 owl:Class HGNC:5956 biolink:NamedThing IHH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024675 biolink:NamedThing adult kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. tmpte7i6ely_mondo_relaxed.owl adenosarcoma of the adult kidney|adult nephroblastoma|adult renal Wilms tumor|adult kidney Wilms tumor|adult renal adenosarcoma|adult renal Wilms' tumor|adenosarcoma of adult kidney|kidney Wilms tumor of adults|adult kidney adenosarcoma NCIT:C6180|UMLS:C1332219 owl:Class OBO:MF_0000061 biolink:NamedThing orgasm Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure. http://en.wikipedia.org/wiki/Orgasm tmpte7i6ely_mondo_relaxed.owl sexual climax MFOMD_0000207 owl:Class MONDO:0015545 biolink:NamedThing macrophage activation syndrome A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. tmpte7i6ely_mondo_relaxed.owl MAS|reactive hemophagocytic lymphohistiocytosis MESH:D055501|SCTID:430478003|NCIT:C114471|MedDRA:10053867|UMLS:C1096155|Orphanet:158061|EFO:1001806|GARD:0012124 https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome owl:Class GO:0042116 biolink:NamedThing macrophage activation A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpte7i6ely_mondo_relaxed.owl macrophage polarization owl:Class MONDO:0016280 biolink:NamedThing sarcoma of cervix uteri A sarcoma involving a uterine cervix. tmpte7i6ely_mondo_relaxed.owl sarcoma of uterine cervix|cervical sarcoma|cervical malignant mesenchymal tumor|malignant mesenchymal tumor of cervix uteri|uterine cervix sarcoma ICD10:C53.0|ICD10:C53.1|UMLS:CN201070|Orphanet:213797|ICD10:C53.8 owl:Class MONDO:0014707 biolink:NamedThing 14q32 duplication syndrome 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. tmpte7i6ely_mondo_relaxed.owl predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|myeloproliferative neoplasms, familial, susceptibility to|chromosome 14q32 DUPLICATION syndrome, 700-KB|dup(14)q(32)|trisomy 14q32 OMIM:616604|Orphanet:488280|UMLS:C4225449 owl:Class OBO:CHR_9606-chr14q32 biolink:NamedThing 14q32 (Human) tmpte7i6ely_mondo_relaxed.owl 107043718 89300000 hg38 owl:Class GO:0005740 biolink:NamedThing mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000096 biolink:NamedThing Glomerular sclerosis Accumulation of scar tissue within the glomerulus. tmpte7i6ely_mondo_relaxed.owl Glomerulosclerosis|Renal glomerular fibrosis SNOMEDCT_US:197661001|SNOMEDCT_US:82646005|UMLS:C0178664 HP:0030761 human_phenotype owl:Class MONDO:0012931 biolink:NamedThing focal segmental glomerulosclerosis 4, susceptibility to Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene. tmpte7i6ely_mondo_relaxed.owl APOL1 focal segmental glomerulosclerosis|FSGS4|end-stage renal disease, nondiabetic, susceptibility to|susceptibility to focal segmental glomerulosclerosis 4|focal segmental glomerulosclerosis caused by mutation in APOL1|focal segmental glomerulosclerosis 4, susceptibility to OMIM:612551 owl:Class HGNC:618 biolink:NamedThing APOL1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p12.2-p11.2 biolink:NamedThing 16p12.2-p11.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0012485 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 68 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 68|autosomal recessive nonsyndromic deafness type 68|S1PR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2|deafness, autosomal recessive 68|DFNB68|autosomal recessive deafness 68 OMIM:610419|Orphanet:90636|DOID:0110519|ICD10:H90.3|UMLS:C1835854|MESH:C563669 owl:Class HGNC:3169 biolink:NamedThing S1PR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100444 biolink:NamedThing RLBP1-related retinopathy A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy caused by mutation in RLBP1|Västerbotten dystrophy|Newfoundland ROD-cone dystrophy|Bothnia retinal dystrophy|Vasterbotten dystrophy|fundus albipunctatus|retinitis punctata albescens|RLBP1 retinopathy|RLBP1 cone-rod dystrophy|Newfoundland rod-cone dystrophy|pigmentary retinal dystrophy|NFRCD owl:Class HGNC:10024 biolink:NamedThing RLBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011857 biolink:NamedThing atrial fibrillation, familial, 3 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene. tmpte7i6ely_mondo_relaxed.owl familial atrial fibrillation caused by mutation in KCNQ1|atrial fibrillation, familial, 3|ATFB3|KCNQ1 familial atrial fibrillation|atrial fibrillation, familial, type 3 Orphanet:334|MESH:C563817|UMLS:C1837014|OMIM:607554 owl:Class OBO:CHR_9606-chr11q24.1 biolink:NamedThing 11q24.1 (Human) tmpte7i6ely_mondo_relaxed.owl 124000000 121300000 hg38 owl:Class MONDO:0016093 biolink:NamedThing borderline epithelial tumor of ovary A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion. tmpte7i6ely_mondo_relaxed.owl ovarian tumors of low malignant potential|borderline ovarian epithelial neoplasm|epithelial neoplasm of ovary of borderline malignancy|ovarian low malignant potential tumor|epithelial neoplasm of the ovary of borderline malignancy|ovarian tum. of low malig. poten.|borderline epithelial neoplasm of ovary|ovarian borderline malignant tumor|borderline ovarian epithelial tumor|borderline epithelial tumor of the ovary|borderline epithelial tumor of ovary|epithelial tumor of ovary of borderline malignancy|borderline epithelial neoplasm of the ovary|epithelial ovarian tumor of borderline malignancy|epithelial ovarian neoplasm of borderline malignancy|ovarian tumor of low malignant potential|low malignant potential ovarian tumor|epithelial tumor of the ovary of borderline malignancy|borderline ovarian surface epithelial-stromal tumor EFO:1000140|SCTID:764791008|UMLS:C3665489|Orphanet:206473|ICD10:C56|NCIT:C4783|GARD:0009363 owl:Class PATO:0002132 biolink:NamedThing neoplastic, non-invasive A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002362 biolink:NamedThing serous surface papilloma A non-invasive papillary serous epithelial neoplasm usually arising from the ovary. tmpte7i6ely_mondo_relaxed.owl serous surface papilloma (morphologic abnormality)|serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma UMLS:C0334360|DOID:2614|ICDO:8461/0|NCIT:C4181 owl:Class OBO:CHR_9606-chr5p1 biolink:NamedThing 5p1 (Human) tmpte7i6ely_mondo_relaxed.owl 48800000 0 hg38 owl:Class MONDO:0011766 biolink:NamedThing 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome tmpte7i6ely_mondo_relaxed.owl 46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy Orphanet:168563|MESH:C567773|UMLS:C2751325|ICD10:Q56.1|OMIM:607080 owl:Class MONDO:0043771 biolink:NamedThing radiodermatitis A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. tmpte7i6ely_mondo_relaxed.owl dermatitis, radiation-induced|radiodermatitis|radiation recall Dermatitides|dermatitis, radiation induced|dermatitis radiation|radiation recall reaction|Dermatitides, radiation-induced|radiation-induced Dermatitides|radiation recall reactions|recall reaction, radiation|radiation induced dermatitis|Dermatitides, radiation recall|radiation-induced dermatitis|recall reactions, radiation|Radiodermatitides|reaction, radiation recall|radiation recall dermatitis|reactions, radiation recall|dermatitis, radiation recall|radiation dermatitis SCTID:49084001|EFO:1001840|NCIT:C3349|MESH:D011855 owl:Class UBERON:0034905 biolink:NamedThing gland lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001532 biolink:NamedThing capillariasis A infectious disease involving the Capillaria. tmpte7i6ely_mondo_relaxed.owl Capillaria infection|infections, Capillaria UMLS:C0006897|ICD9:127.5|SCTID:52979002|ICD10:B81.1|DOID:12474 owl:Class NCBITaxon:119095 biolink:NamedThing Capillaria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014726 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2X Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|SPG11 Charcot-Marie-Tooth disease|autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|ARCMT2X|Charcot-Marie-Tooth neuropathy, type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|Charcot-Marie-Tooth disease, axonal, type 2x|autosomal recessive Charcot Marie Tooth disease type 2X|Charcot-Marie-Tooth disease caused by mutation in SPG11|Charcot-Marie-Tooth neuropathy type 2X|autosomal recessive Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, type 2X|CMT2X EFO:1001983|OMIM:616668|UMLS:C4225253|Orphanet:466775|DOID:0110176 owl:Class MONDO:0001902 biolink:NamedThing congenital agammaglobulinemia An instance of agammaglobulinemia that is present from birth. tmpte7i6ely_mondo_relaxed.owl congenital hypogammaglobulinemia (finding)|congenital hypogammaglobulinaemia|congenital agammaglobulinemia UMLS:C1457897|ICD9:279.04|DOID:14177 owl:Class MONDO:0004120 biolink:NamedThing Bartholin gland small cell carcinoma A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl Bartholin's gland small cell carcinoma|small cell carcinoma of major vestibular gland|Bartholin gland small cell carcinoma|major vestibular gland small cell carcinoma NCIT:C40298|DOID:7140|UMLS:C1511051 owl:Class UBERON:0003289 biolink:NamedThing meninx of telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006807 biolink:NamedThing nitrogen compound metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. tmpte7i6ely_mondo_relaxed.owl nitrogen compound metabolism owl:Class MONDO:0026771 biolink:NamedThing developmental and epileptic encephalopathy, 85, with or without midline brain defects tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 85, with or without midline brain defects|EIEE85|DEE85, with or without midline brain defects OMIM:301044 owl:Class HGNC:11111 biolink:NamedThing SMC1A tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:2000045 biolink:NamedThing hydrocarbon-based environmental material tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24632 biolink:NamedThing hydrocarbon A compound consisting of carbon and hydrogen only. tmpte7i6ely_mondo_relaxed.owl hydrocarbon|Kohlenwasserstoffe|hidrocarburos|hydrocarbons|Kohlenwasserstoff|hydrocarbure|hidrocarburo owl:Class UBERON:0003280 biolink:NamedThing endothelium of main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006000 biolink:NamedThing fructose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. tmpte7i6ely_mondo_relaxed.owl fructose metabolism owl:Class MONDO:0000328 biolink:NamedThing hyperphosphatemia Abnormally high level of phosphate in the blood. tmpte7i6ely_mondo_relaxed.owl hyperphosphatemia (disease)|hyperphosphatemia hyperphosphatemia (disease) NCIT:C113750|HP:0002905|MESH:D054559|DOID:0050459|UMLS:C0085681|SCTID:20165001 owl:Class HGNC:2514 biolink:NamedThing CTNNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003429 biolink:NamedThing CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. tmpte7i6ely_mondo_relaxed.owl hypomyelination SNOMEDCT_US:111007000|UMLS:C4025616|UMLS:C0544820 human_phenotype owl:Class ENVO:01001054 biolink:NamedThing non-saline aerosol environment An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes. tmpte7i6ely_mondo_relaxed.owl owl:Class N0610071284034efca7836c1e6fef529a biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0004518 biolink:NamedThing muscle of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009965 biolink:NamedThing Perlman syndrome Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Perlman syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism|nephroblastomatosis fetal ascites macrosomia and Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome|renal hamartomas, nephroblastomatosis and fetal gigantism|PRLMNS OMIM:267000|MESH:C536399|SCTID:722231005|GARD:0003936|NCIT:C103144|Orphanet:2849|ICD10:Q87.3|DOID:0060476|UMLS:C0796113 https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome owl:Class HGNC:28648 biolink:NamedThing DIS3L2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010852 biolink:NamedThing fibula pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016952 biolink:NamedThing partial duplication of the long arm of chromosome 1 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome 1q|partial trisomy 1q|partial duplication of the long arm of chromosome type 1|1q duplications|partial trisomy of chromosome 1q|partial trisomy of the long arm of chromosome 1 UMLS:C0795800|NCIT:C36521|Orphanet:262833|GARD:0010831 owl:Class GO:0031012 biolink:NamedThing extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. tmpte7i6ely_mondo_relaxed.owl matrisome|proteinaceous extracellular matrix owl:Class UBERON:0000127 biolink:NamedThing facial nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010123 biolink:NamedThing future facial nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042494 biolink:NamedThing childhood malignant melanoma A melanoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood melanoma|melanoma (disease) of childhood|childhood melanoma (disease)|malignant melanoma, childhood|pediatric melanoma (disease) UMLS:C4329660|GARD:0000091|NCIT:C131506 owl:Class MONDO:0003543 biolink:NamedThing trigeminal nerve disorder A disease involving the trigeminal nerve. tmpte7i6ely_mondo_relaxed.owl disorder of the fifth cranial nerve|trigeminal nerve disease or disorder|disorders of the fifth nerve|trigeminal nerve disease|disorders of the vth cranial nerve|disease or disorder of trigeminal nerve|disorder of trigeminal nerve|disease of trigeminal nerve|trigeminal nerve disorder MESH:D020433|SCTID:64309007|DOID:561|NCIT:C26952|ICD9:350.8 owl:Class CL:0002576 biolink:NamedThing perineural cell A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-02T03:03:58Z cell owl:Class MONDO:0014702 biolink:NamedThing autosomal recessive complex spastic paraplegia type 9B Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. tmpte7i6ely_mondo_relaxed.owl AR-SPG9B|hereditary spastic paraplegia type 9B|ALDH18A1 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia type 9B|autosomal recessive spastic paraplegia 9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1|hereditary spastic paraplegia 9B|spastic paraplegia 9B, autosomal recessive|SPG9B OMIM:616586|ICD10:G11.4|Orphanet:447760|UMLS:C4225272|DOID:0110825 Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A. See https://github.com/Orphanet/ORDO/issues/8 owl:Class UBERON:0001070 biolink:NamedThing external carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001530 biolink:NamedThing common carotid artery plus branches tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042320 biolink:NamedThing regulation of circadian sleep/wake cycle, REM sleep Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. tmpte7i6ely_mondo_relaxed.owl regulation of REM sleep owl:Class MONDO:0013655 biolink:NamedThing intellectual disability, autosomal dominant 8 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 8|NDHMSD|mental retardation, autosomal dominant 8, formerly|intellectual disability, autosomal dominant 8|autosomal dominant mental retardation 8|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|MRD8|intellectual disability, autosomal dominant type 8|mental retardation, autosomal dominant type 8|GRIN1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1|mental retardation, autosomal dominant 8|autosomal dominant intellectual disability 8|intellectual disability, autosomal dominant 8, formerly DOID:0070038|Orphanet:178469|OMIM:614254|UMLS:C3280282 owl:Class HGNC:4584 biolink:NamedThing GRIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013593 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 64 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 64|deafness, autosomal dominant 64|autosomal dominant nonsyndromic deafness 64|DIABLO autosomal dominant nonsyndromic deafness|DFNA64|deafness, autosomal dominant type 64|autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|autosomal dominant deafness 64 UMLS:C3279948|DOID:0110585|ICD10:H90.3|OMIM:614152 owl:Class MONDO:0019380 biolink:NamedThing western equine encephalitis An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. tmpte7i6ely_mondo_relaxed.owl Western equine encephalitis virus caused infectious encephalitis|WEE|Western equine encephalomyelitis|Western equine encephalitis virus infectious encephalitis DOID:10843|GARD:0007888|EFO:0007546|Orphanet:83593|UMLS:C0153064|ICD9:062.1|MedDRA:10014614|NCIT:C85227|SCTID:47523006|MESH:D020241|ICD10:A83.1 https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis owl:Class NCBITaxon:11039 biolink:NamedThing Western equine encephalitis virus tmpte7i6ely_mondo_relaxed.owl Western equine encephalomyelitis virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0018149 biolink:NamedThing angle of oral opening tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000166 biolink:NamedThing oral opening tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003353 biolink:NamedThing heart leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of heart|leiomyosarcoma of the heart|heart leiomyosarcoma|Cardiac leiomyosarcoma DOID:5261|UMLS:C1332848|NCIT:C5364 owl:Class MONDO:0005983 biolink:NamedThing tinea favosa A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. tmpte7i6ely_mondo_relaxed.owl favus EFO:0007511|UMLS:C0040254|SCTID:85375000|NCIT:C35072|MESH:D014007|DOID:4336|ICD10:B35 owl:Class HP:0100699 biolink:NamedThing Scarring tmpte7i6ely_mondo_relaxed.owl Scar tissue|Scarring MSH:D002921|SNOMEDCT_US:48677004|UMLS:C0008767 koehlers 2011-03-29T06:39:56Z human_phenotype owl:Class GO:0032275 biolink:NamedThing luteinizing hormone secretion The regulated release of luteinizing hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002387 biolink:NamedThing liver angiosarcoma A malignant vascular neoplasm arising from the liver. tmpte7i6ely_mondo_relaxed.owl Lias|hepatic hemangiosarcoma|hepatic angiosarcoma|angiosarcoma of liver|angiosarcoma (disease) of liver|hemangiosarcoma of the liver|liver angiosarcoma|liver angiosarcoma (disease)|angiosarcoma of the liver|hemangiosarcoma of liver|primary angiosarcoma of liver|liver hemangiosarcoma|primary angiosarcoma of the liver ONCOTREE:LIAS|GARD:0005813|SCTID:109844006|UMLS:C0345907|ICDO:9124/3|DOID:268|ICD10:C22.3|NCIT:C4438 https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver owl:Class MONDO:0017201 biolink:NamedThing Spasmus nutans Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. tmpte7i6ely_mondo_relaxed.owl Spasmus nutans|Spasmus nutans (disease) Spasmus nutans (disease) SCTID:400948003|Orphanet:279882|MedDRA:10059593|UMLS:C1527306|ICD10:F98.4|HP:0010533 owl:Class MONDO:0013579 biolink:NamedThing methylmalonate semialdehyde dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl methylmalonate semialdehyde dehydrogenase deficiency|MMSDH deficiency|MMSDHD|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency|developmental delay due to MMSDH deficiency|developmental delay due to ALDH6A1 deficiency Orphanet:289307|UMLS:C3279840|ICD10:E71.1|OMIM:614105|MESH:C566402 owl:Class HGNC:7179 biolink:NamedThing ALDH6A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000087 biolink:NamedThing inner cell mass tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005426 biolink:NamedThing lens vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002478 biolink:NamedThing transversely striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011490 biolink:NamedThing diffuse panbronchiolitis Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis tmpte7i6ely_mondo_relaxed.owl DPb|panbronchiolitis, diffuse|PBLT OMIM:604809|MedDRA:10062952|Orphanet:171700|GARD:0008526|ICD10:J44.8|SCTID:430476004|MESH:C536174|UMLS:C0878555|ICD9:491.8 https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis owl:Class UBERON:0001197 biolink:NamedThing ileocolic artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004239 biolink:NamedThing small intestine smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:62031 biolink:NamedThing polar amino acid zwitterion Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group. tmpte7i6ely_mondo_relaxed.owl a polar amino acid owl:Class UBERON:0001199 biolink:NamedThing mucosa of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012078 biolink:NamedThing Joubert syndrome 3 Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome caused by mutation in AHI1|JBTS3|Joubert syndrome 3|Joubert syndrome type 3|AHI1 Joubert syndrome OMIM:608629|MESH:C536295|Orphanet:220493|UMLS:C1837713|DOID:0110998|NCIT:C148259 owl:Class HGNC:21575 biolink:NamedThing AHI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012276 biolink:NamedThing generalized epilepsy-paroxysmal dyskinesia syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy|epilepsy, generalized, with paroxysmal dyskinesia|generalized epilepsy and paroxysmal dyskinesia|GEPD|PNKD3 UMLS:C1836173|Orphanet:79137|OMIM:609446|MESH:C563719|ICD10:G40.3 owl:Class HGNC:6284 biolink:NamedThing KCNMA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003189 biolink:NamedThing middle ear adenocarcinoma A carcinoma that arises from glandular epithelial cells of the middle ear tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of middle Ear|middle Ear adenocarcinoma|adenocarcinoma of middle ear|adenocarcinoma of the middle Ear|middle ear adenocarcinoma|adenocarcinoma of the middle ear NCIT:C6848|DOID:4892|UMLS:C1334758 owl:Class UBERON:0003129 biolink:NamedThing skull tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013556 biolink:NamedThing Hermansky-Pudlak syndrome 4 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. tmpte7i6ely_mondo_relaxed.owl Hermansky-Pudlak syndrome 4|Hermansky-Pudlak syndrome caused by mutation in HPS4|HPS4 Hermansky-Pudlak syndrome|HPS4|Hermansky-Pudlak syndrome type 4 DOID:0060542|Orphanet:79430|Orphanet:231500|OMIM:614073|UMLS:C3484357 owl:Class HGNC:15844 biolink:NamedThing HPS4 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002014 biolink:NamedThing Diarrhea Abnormally increased frequency of loose or watery bowel movements. tmpte7i6ely_mondo_relaxed.owl Watery stool|Diarrhoea|Diarrhea MSH:D003967|UMLS:C0011991|SNOMEDCT_US:62315008|SNOMEDCT_US:267060006 human_phenotype owl:Class MONDO:0013228 biolink:NamedThing spondylo-megaepiphyseal-metaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia Orphanet:228387|ICD10:Q77.7|UMLS:C2750066|MESH:C567639|OMIM:613330 owl:Class HGNC:951 biolink:NamedThing NKX3-2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000971 biolink:NamedThing chest wall lipoma A benign adipose tissue neoplasm of the chest wall. tmpte7i6ely_mondo_relaxed.owl chest wall lipoma|lipoma of the chest wall|lipoma of chest wall NCIT:C6719|SCTID:448270009|DOID:10200|ICD9:214.8|UMLS:C1332932 owl:Class UBERON:0016435 biolink:NamedThing chest wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015010 biolink:NamedThing sacral vertebra endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013502 biolink:NamedThing amyloidosis, primary localized cutaneous, 2 tmpte7i6ely_mondo_relaxed.owl amyloidosis, primary localized cutaneous, 2|amyloidosis, primary localized cutaneous, type 2|PLCA2 OMIM:613955|Orphanet:353220|UMLS:C3151404 owl:Class HGNC:18969 biolink:NamedThing IL31RA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014347 biolink:NamedThing short stature with microcephaly and distinctive facies tmpte7i6ely_mondo_relaxed.owl short stature with microcephaly and distinctive facies UMLS:C4014339|OMIM:615789 owl:Class HGNC:14312 biolink:NamedThing CRIPT tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002795 biolink:NamedThing negative regulation of antimicrobial peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. tmpte7i6ely_mondo_relaxed.owl inhibition of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|down-regulation of antimicrobial peptide secretion owl:Class MONDO:0004079 biolink:NamedThing lung mucous gland adenoma A benign adenomatous neoplasm that arises from the mucous glands in the bronchus. tmpte7i6ely_mondo_relaxed.owl adenoma of the bronchial mucous gland|adenoma of the bronchial mucus gland|bronchial mucus gland adenoma|adenoma of bronchial mucous gland|lung polyadenoma|bronchial cystadenoma|lung mucous gland adenoma|adenoma of bronchial mucus gland NCIT:C5664|UMLS:C1332640|DOID:7030 owl:Class UBERON:0019190 biolink:NamedThing mucous gland of lung tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054740 biolink:NamedThing blepharocheilodontic syndrome 1 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene. tmpte7i6ely_mondo_relaxed.owl elschnig syndrome|Lagophthalmia with bilateral cleft 51P and palate|blepharo-cheilo-odontic syndrome caused by mutation in CDH1|ectropion, Inferior, with cleft 51P and/Or palate|blepharocheilodontic syndrome|clefting, ectropion, and conical teeth|BCDS1|BCD syndrome|CDH1 blepharo-cheilo-odontic syndrome|blepharocheilodontic syndrome 1 DOID:0080345|OMIM:119580 owl:Class HGNC:1748 biolink:NamedThing CDH1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002435 biolink:NamedThing CD69-positive, CD8-positive single-positive thymocyte A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpte7i6ely_mondo_relaxed.owl intermediate CD8-single-positive|T.8SP69+.Th tmeehan 2010-10-21T02:59:14Z cell owl:Class UBERON:0004536 biolink:NamedThing lymph vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016426 biolink:NamedThing proximal interphalangeal joint of little finger tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001380 biolink:NamedThing bladder dome cancer Cancer of the upper, convex surface of the bladder. tmpte7i6ely_mondo_relaxed.owl superior surface of bladder|malignant neoplasm of apex of urinary bladder|malignant neoplasm of dome of urinary bladder|malignant tumor of vault of bladder|malignant fundus of urinary bladder neoplasm|fundus of urinary bladder cancer|cancer of fundus of urinary bladder|malignant neoplasm of fundus of urinary bladder SCTID:188240003|ICD10:C67.1|UMLS:C0496827|NCIT:C12332|DOID:11820|ICD9:188.1 owl:Class CHEBI:35337 biolink:NamedThing central nervous system stimulant Any drug that enhances the activity of the central nervous system. tmpte7i6ely_mondo_relaxed.owl analeptics|central stimulant|analeptic drug|central nervous system stimulant|analeptic|CNS stimulant|analeptic agent owl:Class MONDO:0005607 biolink:NamedThing chronic bronchitis A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. tmpte7i6ely_mondo_relaxed.owl bronchitis, chronic ICD9:491.8|ICD9:491|ICD9:491.9|EFO:0006505|NCIT:C26722|SCTID:63480004|UMLS:C0008677 owl:Class UBERON:0002040 biolink:NamedThing bronchial artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004571 biolink:NamedThing systemic arterial system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008989 biolink:NamedThing submucosal esophageal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003782 biolink:NamedThing uterine corpus epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpte7i6ely_mondo_relaxed.owl uterine corpus epithelioid leiomyosarcoma|epithelioid leiomyosarcoma of body of uterus|body of uterus epithelioid leiomyosarcoma|uterine epithelioid leiomyosarcoma NCIT:C40174|ONCOTREE:UELMS|UMLS:C1519851|DOID:6139 Editor note: check ONCOTREE mapping owl:Class MONDO:0008866 biolink:NamedThing bifid nose, autosomal recessive Autosomal recessive form of bifid nose. tmpte7i6ely_mondo_relaxed.owl autosomal recessive bifid nose|median fissure of Nose|Nose, Median cleft of|bifid nose, autosomal recessive Orphanet:2695|OMIM:210400 owl:Class MONDO:0100352 biolink:NamedThing episodic kinesigenic dyskinesia 1 tmpte7i6ely_mondo_relaxed.owl episodic kinesigenic dyskinesia 1|dystonia, familial paroxysmal|PxMD-PRRT2|paroxysmal kinesigenic dyskinesia|EKD1|dystonia 10|paroxysmal kinesigenic choreoathetosis|episodic kinesigenic dyskinesia caused by mutation in PRRT2|DYT-PRRT2|episodic kinesigenic dyskinesia type 1|PRRT2 episodic kinesigenic dyskinesia ICD10:G24.8|DOID:0090053|SCTID:609221008|Orphanet:98809|MESH:C537180|ICD9:333.5|GARD:0008721|OMIM:128200|OMIM:611031 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005905 biolink:NamedThing periodic limb movement disorder Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) tmpte7i6ely_mondo_relaxed.owl nocturnal myoclonus DOID:9207|ICD10:G47.61|EFO:0007428|UMLS:C0751774|ICD9:327.51|SCTID:418763003 owl:Class HP:0045084 biolink:NamedThing Limb myoclonus tmpte7i6ely_mondo_relaxed.owl Myoclonus of limbs Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 human_phenotype owl:Class MONDO:0010117 biolink:NamedThing 3M syndrome 1 Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene. tmpte7i6ely_mondo_relaxed.owl Le Merrer syndrome|three M syndrome 1|gloomy face syndrome|Dolichospondylic dysplasia|3M syndrome|Cul7 3-M syndrome|CUL7 3-M syndrome|3M1|Yakut short stature syndrome|3-M syndrome caused by mutation in CUL7|3-M syndrome caused by mutation in Cul7|three M syndrome type 1 OMIM:273750|Orphanet:2616 owl:Class HGNC:21024 biolink:NamedThing CUL7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008871 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type I A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. tmpte7i6ely_mondo_relaxed.owl osteodysplastic primordial dwarfism, type 1|Taybi-Linder syndrome|Cephaloskeletal dysplasia|MOPD1|cephaloskeletal dysplasia|microcephalic osteodysplastic primordial dwarfism, type I|Brachymelic primordial dwarfism|brachymelic primordial dwarfism|low-birth-weight dwarfism with skeletal dysplasia|microcephalic osteodysplastic primordial dwarfism, type 1|MOPD 1|osteodysplastic primordial dwarfism type I Orphanet:2636|ICD10:Q87.1|OMIM:210710|DOID:0060608|SCTID:254102008 owl:Class HGNC:17075 biolink:NamedThing TAB2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q34 biolink:NamedThing 9q34 (Human) tmpte7i6ely_mondo_relaxed.owl 138394717 127500000 hg38 owl:Class MONDO:0100103 biolink:NamedThing fetal akinesia deformation sequence 3 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene. tmpte7i6ely_mondo_relaxed.owl FADS3 OMIM:618389|DOID:0111376 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:26594 biolink:NamedThing DOK7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005256 biolink:NamedThing trunk mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002200 biolink:NamedThing eccrine mixed tumor of skin A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures. tmpte7i6ely_mondo_relaxed.owl benign mixed tumor of skin|benign mixed tumor of the skin|eccrine sweat gland mixed neoplasm|eccrine mixed tumor (morphologic abnormality)|chondroid syringoma|mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin (chondroid syringoma)|eccrine mixed tumor|mixed eccrine neoplasm of the skin|benign mixed tumor of the skin (chondroid syringoma) NCIT:C4474|EFO:1000385|SCTID:254720009|UMLS:C0346026|DOID:2079 MONDO:0006308 owl:Class UBERON:0001839 biolink:NamedThing bony labyrinth tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004161 biolink:NamedThing septum transversum tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000081 biolink:NamedThing blood cell A cell found predominately in the blood. tmpte7i6ely_mondo_relaxed.owl FMA:62844 cell owl:Class GO:0007140 biolink:NamedThing male meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. tmpte7i6ely_mondo_relaxed.owl male nuclear division|male meiosis owl:Class GO:0048232 biolink:NamedThing male gamete generation Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004538 biolink:NamedThing left kidney tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008393 biolink:NamedThing Rubinstein-Taybi syndrome due to CREBBP mutations Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. tmpte7i6ely_mondo_relaxed.owl broad thumb-hallux syndrome|Rubinstein-Taybi syndrome due to CREBBP mutations|Rubinstein syndrome|RSTS1|CREBBP Rubinstein-Taybi syndrome|broad thumbs and great toes, characteristic facies, and intellectual disability|RSTS|Rubinstein-Taybi syndrome 1|broad thumbs and great toes, characteristic facies, and mental retardation|Rubinstein-Taybi syndrome type 1|Rubinstein-Taybi syndrome caused by mutation in CREBBP Orphanet:783|NCIT:C153290|OMIM:180849|Orphanet:353277|ICD10:Q87.2|UMLS:C0035934 owl:Class HGNC:2348 biolink:NamedThing CREBBP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013588 biolink:NamedThing Perrault syndrome 3 Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene. tmpte7i6ely_mondo_relaxed.owl CLPP Perrault syndrome|Perrault syndrome 3|deafness, autosomal recessive 81|Perrault syndrome type 3|deafness, autosomal recessive 81, formerly|Perrault syndrome caused by mutation in CLPP|PRLTS3 OMIM:614129|Orphanet:2855|UMLS:C3808414 based on OMIM phenotypic series 220290. owl:Class MONDO:0002881 biolink:NamedThing vaginal adenosarcoma A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component. tmpte7i6ely_mondo_relaxed.owl vagina adenosarcoma|vaginal Mullerian adenosarcoma|vaginal Müllerian adenosarcoma|adenosarcoma of vagina|vaginal adenosarcoma DOID:4117|NCIT:C40277|UMLS:C1519914 owl:Class ECTO:9002028 biolink:NamedThing exposure to greenhouse gas An exposure to greenhouse gas. tmpte7i6ely_mondo_relaxed.owl exposure to greenhouse gas owl:Class CHEBI:76413 biolink:NamedThing greenhouse gas A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. tmpte7i6ely_mondo_relaxed.owl greenhouse gases owl:Class MONDO:0012246 biolink:NamedThing spinocerebellar ataxia type 26 Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 26|SCA26|spinocerebellar ataxia type 26 MESH:C537203|UMLS:C1836395|GARD:0009995|SCTID:718769009|Orphanet:101112|DOID:0050975|OMIM:609306|ICD10:G11.2 owl:Class HGNC:3214 biolink:NamedThing EEF2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060467 biolink:NamedThing negative regulation of fertilization Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009566 biolink:NamedThing fertilization The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpte7i6ely_mondo_relaxed.owl syngamy owl:Class ENVO:01000952 biolink:NamedThing anthropisation A process during which a natural environmental system is altered by human action. tmpte7i6ely_mondo_relaxed.owl anthropization owl:Class UBERON:0005984 biolink:NamedThing subendocardium layer tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900120 biolink:NamedThing regulation of receptor binding Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpte7i6ely_mondo_relaxed.owl regulation of receptor ligand owl:Class GO:0005102 biolink:NamedThing signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpte7i6ely_mondo_relaxed.owl receptor ligand|receptor binding|receptor-associated protein activity owl:Class UBERON:0003538 biolink:NamedThing right lung bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050790 biolink:NamedThing regulation of catalytic activity Any process that modulates the activity of an enzyme. tmpte7i6ely_mondo_relaxed.owl regulation of enzyme activity|regulation of metalloenzyme activity owl:Class GO:0003824 biolink:NamedThing catalytic activity Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. tmpte7i6ely_mondo_relaxed.owl enzyme activity owl:Class MONDO:0011406 biolink:NamedThing cholesteatoma, congenital tmpte7i6ely_mondo_relaxed.owl cholesteatoma, congenital OMIM:604183|SCTID:232262007|MESH:C562858 owl:Class GO:0048638 biolink:NamedThing regulation of developmental growth Any process that modulates the frequency, rate or extent of developmental growth. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011156 biolink:NamedThing progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. tmpte7i6ely_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, type 2|ABCB11 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in ABCB11|severe ABCB11 deficiency|cholestasis, progressive familial intrahepatic, 2|BSEP deficiency|PFIC2|progressive familial intrahepatic cholestasis type 2 DOID:0070222|ICD10:K76.8|Orphanet:172|GARD:0001288|OMIM:601847|OMIM:615878|Orphanet:79304|MESH:C535934|UMLS:CN205889 https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2 owl:Class HGNC:42 biolink:NamedThing ABCB11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020667 biolink:NamedThing Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis tmpte7i6ely_mondo_relaxed.owl trapezoidocephaly-synostosis Syndrome|osteodysgenesis, multisynostotic, with fractures|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|ABS2|multisynostotic osteodysgenesis with long bone fractures OMIM:207410 owl:Class HGNC:3689 biolink:NamedThing FGFR2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005484 biolink:NamedThing tricuspid valve leaflet tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002619 biolink:NamedThing bone fibrosarcoma A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl fibrosarcoma of bone|bone tissue fibrosarcoma (disease)|bone fibrosarcoma|fibrosarcoma of the bone UMLS:C2733623|DOID:3354|NCIT:C6604 owl:Class MONDO:0005452 biolink:NamedThing bulimia nervosa A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. tmpte7i6ely_mondo_relaxed.owl bulimia|hyperorexia nervosa OMIM:607499|OMIM:610269|SCTID:78004001|DOID:12129|ICD10:F50.2|ICD9:307.51|MESH:D002032|NCIT:C34440|NCIT:C97162|MESH:D052018|EFO:0005204 owl:Class MONDO:0002625 biolink:NamedThing Ewing sarcoma of bone A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. tmpte7i6ely_mondo_relaxed.owl skeletal Ewing's tumor|osseous Ewing's sarcoma|bone localized Ewing sarcoma|bone localized Ewing's sarcoma|Ewing sarcoma of bone|bone Ewing sarcoma|localized skeletal Ewing's sarcoma|bone Ewing's sarcoma|osseous Ewing's tumor|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|skeletal Ewing's sarcoma|bone tissue Ewing sarcoma|Ewing's sarcoma of bone|Ewing's sarcoma, osseous UMLS:C0585474|ICD9:170.9|NCIT:C35871|SCTID:307608006|NCIT:C4835|UMLS:C1333481|DOID:3368 owl:Class MONDO:0005739 biolink:NamedThing echinostomiasis Infection by flukes of the genus Echinostoma. tmpte7i6ely_mondo_relaxed.owl infection by Echinochasmus|Echinostomatoidea infectious disease|Echinostomatoidea caused disease or disorder|Echinostomatoidea disease or disorder SCTID:52918004|UMLS:C0013514|MESH:D004451|DOID:1218|ICD10:B66.8|ICD9:121.8|EFO:0007246 owl:Class UBERON:0002062 biolink:NamedThing endocardial cushion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003547 biolink:NamedThing brain meninx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006853 biolink:NamedThing renal cortex tubule tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2 biolink:NamedThing chromosome 2 (Human) tmpte7i6ely_mondo_relaxed.owl 2 242193529 0 hg38 owl:Class UBERON:0001770 biolink:NamedThing lacrimal canaliculus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005463 biolink:NamedThing subcapsular sinus of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002006 biolink:NamedThing cortex of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000336 biolink:NamedThing meningovascular neurosyphilis A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries. tmpte7i6ely_mondo_relaxed.owl DOID:0050491 owl:Class MONDO:0000591 biolink:NamedThing intrinsic cardiomyopathy A cardiomyopathy that is due to abnormalities in heart muscle cells. tmpte7i6ely_mondo_relaxed.owl primary cardiomyopathy|intrinsic cardiomyopathy DOID:0060036 owl:Class UBERON:0001343 biolink:NamedThing seminiferous tubule of testis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002166 biolink:NamedThing rectum lymphoma An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas. tmpte7i6ely_mondo_relaxed.owl rectum lymphoma|lymphoma of the rectum|lymphoma of rectum|rectal lymphoma|primary rectal lymphoma DOID:1988|UMLS:C1335685|NCIT:C5553 owl:Class MONDO:0011424 biolink:NamedThing Carney triad Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. tmpte7i6ely_mondo_relaxed.owl gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma|Carney triad MESH:C565803|ICD10:D44.8|GARD:0010924|OMIM:604287|SCTID:733492003|Orphanet:139411|NCIT:C94833|UMLS:C1858592 https://rarediseases.info.nih.gov/diseases/10924/carney-triad owl:Class MONDO:0005737 biolink:NamedThing Ebola hemorrhagic fever A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. tmpte7i6ely_mondo_relaxed.owl Ebolavirus disease or disorder|Ebola virus disease|Ebola fever|Ebolavirus caused disease or disorder|Ebolavirus infectious disease|Ebola|EHF EFO:0007243|GARD:0002035|ICD10:A98.4|NCIT:C36171|MedDRA:10014071|UMLS:C0282687|Orphanet:319218|SCTID:37109004|DOID:4325|MESH:D019142 owl:Class N448ec1ea938b4a60b54269d77a987a1f biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012614 biolink:NamedThing intellectual disability, autosomal recessive 6 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 6|mental retardation, autosomal recessive type 6|autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|mental retardation, autosomal recessive 6|GRIK2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 6|MRT6 MESH:C567017|OMIM:611092|UMLS:C1970198 owl:Class HGNC:4580 biolink:NamedThing GRIK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006972 biolink:NamedThing silo filler disease A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. tmpte7i6ely_mondo_relaxed.owl silo filler disease|silo-fillers' disease|silo filler's disease UMLS:C0037120|SCTID:61233003|MESH:D012832|EFO:1001182|DOID:4374 owl:Class ENVO:00003030 biolink:NamedThing silage A fermented, high-moisture forage that can be fed to ruminants. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046883 biolink:NamedThing regulation of hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046879 biolink:NamedThing hormone secretion The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005594 biolink:NamedThing head somite tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4220 biolink:NamedThing GDF5 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q biolink:NamedThing 20q (Human) tmpte7i6ely_mondo_relaxed.owl 64444167 28100000 hg38 owl:Class MONDO:0016007 biolink:NamedThing cocaine embryofetopathy A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. tmpte7i6ely_mondo_relaxed.owl cocaine fetopathy|cocaine antenatal exposure|fetal cocaine syndrome|prenatal cocaine exposure GARD:0001413|UMLS:C0432371|ICD10:Q86.8|Orphanet:1911|ICD9:760.75|SCTID:254250002 owl:Class HGNC:9588 biolink:NamedThing PTEN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014186 biolink:NamedThing retinitis pigmentosa with or without situs inversus Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in ARL2BP|retinitis pigmentosa with or without situs inversus|ARL2BP retinitis pigmentosa DOID:0110419|UMLS:C3809503|ICD10:H35.5|OMIM:615434 owl:Class HGNC:17146 biolink:NamedThing ARL2BP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008823 biolink:NamedThing arthrogryposis multiplex congenita 2, neurogenic type Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. tmpte7i6ely_mondo_relaxed.owl neurogenic arthrogryposis multiplex congenita|AMC, neurogenic type|AMCN|neurogenic type of AMC|arthrogryposis multiplex congenita, neurogenic type|arthrogryposis multiplex congenita neurogenic type|AMC neurogenic type MESH:C536614|DOID:0090124|ICD10:Q74.3|OMIM:208100|Orphanet:1143|UMLS:C1859721|SCTID:715316005|GARD:0000790 owl:Class MONDO:0014874 biolink:NamedThing pontocerebellar hypoplasia, type 2F Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15|TSEN15 non-syndromic pontocerebellar hypoplasia|PCH2F|pontocerebellar hypoplasia, type 2F|pontocerebellar hypoplasia, type 2F; PCH2F OMIM:617026|UMLS:C4310757 owl:Class CL:0002555 biolink:NamedThing fibroblast of mammary gland A fibroblast that is part of the mammary gland. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:18:38Z cell owl:Class UBERON:0005412 biolink:NamedThing optic fissure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005657 biolink:NamedThing aspergillosis Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. tmpte7i6ely_mondo_relaxed.owl infection due to Aspergillus ICD10:B44.8|NCIT:C2886|ICD9:117.3|MedDRA:10003488|UMLS:C0004030|DOID:13564|CSP:1988-4002|EFO:0007157|MESH:D001228|Orphanet:1163|ICD10:B44.9|ICD10:B44.1|GARD:0005856|SCTID:65553006|ICD10:B44.0|ICD10:B44|OMIM:614079|ICD10:B44.2|ICD10:B44.7 https://rarediseases.info.nih.gov/diseases/5856/aspergillosis owl:Class HGNC:1802 biolink:NamedThing CDSN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011904 biolink:NamedThing seizures, benign familial infantile, 3 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene. tmpte7i6ely_mondo_relaxed.owl convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile|convulsions benign familial neonatal|BFIS3|SCN2A benign familial infantile epilepsy|benign neonatal-infantile epilepsy|seizures, benign familial infantile, type 3|epilepsy, benign neonatal-infantile|benign familial infantile convulsions|benign familial neonatal-infantile seizures|benign familial infantile epilepsy caused by mutation in SCN2A|BFNIS|seizures, benign familial infantile, 3 ICD10:G40.4|GARD:0001518|Orphanet:306|OMIM:607745|Orphanet:140927|MedDRA:10067866|UMLS:C1843140 owl:Class MONDO:0006416 biolink:NamedThing small intestinal Burkitt lymphoma A Burkitt lymphoma that arises from the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestinal Burkitt lymphoma|primary small intestinal Burkitt's lymphoma|Burkitt lymphoma of small intestine|small intestinal Burkitt's lymphoma|small intestine Burkitts lymphoma|small intestine Burkitt's lymphoma|Burkitts lymphoma of small intestine|small intestine Burkitt lymphoma EFO:1000533|NCIT:C27409|UMLS:C1335991 owl:Class CL:1000277 biolink:NamedThing smooth muscle fiber of jejunum A smooth muscle cell that is part of the jejunum. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of jejunum FMA:15062 cell owl:Class MONDO:0012927 biolink:NamedThing chromosome 1q41-q42 deletion syndrome 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly 10|1q41q42 microdeletion syndrome|1q41-q42 deletion syndrome|Del(1)(q41q42)|1q41-q42 microdeletion syndrome|monosomy 1q41-q42|chromosome 1q41-q42 deletion syndrome|deletion 1q41-q42|monosomy 1q41q42 DOID:0060412|Orphanet:250999|SCTID:716515000|OMIM:612530|UMLS:C4274528|Orphanet:2162|GARD:0003738|UMLS:C2675857|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome owl:Class MONDO:0014254 biolink:NamedThing otofaciocervical syndrome 2 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene. tmpte7i6ely_mondo_relaxed.owl OFC2|OTFCS2|otofaciocervical syndrome caused by mutation in PAX1|otofaciocervical syndrome type 2|otofaciocervical syndrome 2|PAX1 otofaciocervical syndrome Orphanet:2792|OMIM:615560|UMLS:C3714942 owl:Class HGNC:8615 biolink:NamedThing PAX1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900122 biolink:NamedThing positive regulation of receptor binding Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpte7i6ely_mondo_relaxed.owl upregulation of receptor binding|activation of receptor binding|up regulation of receptor binding owl:Class MONDO:0009732 biolink:NamedThing congenital nephrotic syndrome, Finnish type Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 1|congenital nephrotic syndrome 1|nephrosis 1, congenital, Finnish type|nephrotic syndrome, congenital|nephrotic syndrome - NPHS1 associated|CnF|nephrosis, congenital|congenital nephrotic syndrome - Finnish type|Finnish congenital nephrosis|NPHS1|congenital nephrotic syndrome Finnish type|congenital nephrotic syndrome, Finnish type ICD10:N04.8|Orphanet:839|MedDRA:10060740|OMIM:256300|NCIT:C122795|SCTID:197601003|UMLS:C0403399|GARD:0001500 https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type owl:Class HGNC:7908 biolink:NamedThing NPHS1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:15740 biolink:NamedThing formate A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects. tmpte7i6ely_mondo_relaxed.owl formylate|methanoate|HCO2 anion|formiate|formate|aminate|formic acid, ion(1-)|hydrogen carboxylate owl:Class CHEBI:30751 biolink:NamedThing formic acid The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects. tmpte7i6ely_mondo_relaxed.owl Methanoic acid|HCOOH|FORMIC ACID|HCO2H|formic acid|bilorin|Ameisensaeure|methoic acid|Formic acid|Acide formique|H-COOH|formylic acid|hydrogen carboxylic acid|aminic acid owl:Class MONDO:0012658 biolink:NamedThing brachydactyly type B2 Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. tmpte7i6ely_mondo_relaxed.owl brachydactyly, type B2|BDB2 DOID:0110975|UMLS:C1969652|SCTID:770406002|Orphanet:140908|ICD10:Q73.8|OMIM:611377 https://github.com/monarch-initiative/mondo/issues/3709 owl:Class HGNC:7866 biolink:NamedThing NOG tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011892 biolink:NamedThing anterior uvea tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000442 biolink:NamedThing right testicular vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001142 biolink:NamedThing left renal vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003393 biolink:NamedThing mesentery of urinary system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009745 biolink:NamedThing neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpte7i6ely_mondo_relaxed.owl CLN5 disease, late infantile (subtype)|CLN5 disease|CLN5 disease, adult|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|neuronal ceroid lipofuscinosis Finnish variant|CLN5 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|ceroid lipofuscinosis, neuronal, type 5|ceroid lipofuscinosis, neuronal, 5|Finnish Vlincl|neuronal ceroid lipofuscinosis 5 variable age of onset|neuronal ceroid lipofuscinosis caused by mutation in CLN5|neuronal ceroid lipofuscinosis type 5|CLN5|CLN5 disease, juvenile Orphanet:228360|Orphanet:168491|MESH:C575534|OMIM:256731|GARD:0001223|DOID:0110728|ICD10:E75.4 https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 owl:Class HGNC:2076 biolink:NamedThing CLN5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014491 biolink:NamedThing middle phalanx of digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018733 biolink:NamedThing intellectual disability syndrome due to a DYRK1A point mutation tmpte7i6ely_mondo_relaxed.owl DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311|UMLS:CN242084 owl:Class UBERON:0002428 biolink:NamedThing limb bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6716 biolink:NamedThing LTBP3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001152 biolink:NamedThing negative regulation of renal water transport Any process that stops, prevents or reduces the frequency, rate or extent of renal water transport. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003097 biolink:NamedThing renal water transport The directed movement of water (H2O) by the renal system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008891 biolink:NamedThing riboflavin transporter deficiency A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. tmpte7i6ely_mondo_relaxed.owl riboflavin transmembrane transporter activity disease|disorder of riboflavin transmembrane transporter activity|BVVLS|sensorineural hearing loss-pontobulbar palsy syndrome|BVVLS1|Brown-Vialetto-Van Laere syndrome 1|progressive bulbar palsy with sensorineural deafness|Brown-Vialetto-van Laere syndrome|pontobulbar palsy and neurosensory deafness|Fazio-Londe syndrome OMIM:614707|DOID:0050694|OMIM:211530|Orphanet:97229|ICD10:G12.1|OMIM:211500|SCTID:699866005|GARD:0009993|OMIMPS:211530|MESH:C537111 https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency owl:Class GO:0032217 biolink:NamedThing riboflavin transmembrane transporter activity Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpte7i6ely_mondo_relaxed.owl riboflavin transporter activity owl:Class UBERON:0004475 biolink:NamedThing musculature of hip tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903650 biolink:NamedThing negative regulation of cytoplasmic transport Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport. tmpte7i6ely_mondo_relaxed.owl down-regulation of cytoplasmic streaming|inhibition of cytoplasmic transport|negative regulation of cytoplasmic streaming|downregulation of cytoplasmic transport|down regulation of cytoplasmic transport|inhibition of cytoplasmic streaming|down regulation of cytoplasmic streaming|downregulation of cytoplasmic streaming|down-regulation of cytoplasmic transport owl:Class GO:0016482 biolink:NamedThing cytosolic transport The directed movement of substances or organelles within the cytosol. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011845 biolink:NamedThing duct of sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011002 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6A Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. tmpte7i6ely_mondo_relaxed.owl MFN2 hereditary motor and sensory neuropathy type 6|neuropathy, hereditary motor and sensory, type 6|peripheral neuropathy and optic atrophy|HMSN6A|Charcot-Marie-Tooth disease, type 6A|neuropathy, hereditary motor and sensory, type VIA|HMSN 6A|Charcot-Marie-Tooth disease, type 6|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2 OMIM:601152|Orphanet:90120|UMLS:C0393807 owl:Class HGNC:16877 biolink:NamedThing MFN2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001513 biolink:NamedThing Obesity Accumulation of substantial excess body fat. tmpte7i6ely_mondo_relaxed.owl Having too much body fat|Obesity UMLS:C0028754|SNOMEDCT_US:414916001|MSH:D009765|SNOMEDCT_US:414915002 human_phenotype owl:Class MONDO:0000283 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type tmpte7i6ely_mondo_relaxed.owl Korean hemorrhagic fever DOID:0050200 owl:Class NCBITaxon:39030 biolink:NamedThing Apodemus agrarius tmpte7i6ely_mondo_relaxed.owl Old World field mouse|Eurasian field mouse|Apodemus pratensis|striped field mouse GC_ID:1 ncbi_taxonomy owl:Class HGNC:5358 biolink:NamedThing IRF8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016808 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebral form tmpte7i6ely_mondo_relaxed.owl deoxyguanosine kinase deficiency|mtDNA depletion syndrome, hepatocerebral form MESH:C580039|UMLS:C3711385|Orphanet:254871|UMLS:CN069134 Editor note: consider merging with MONDO:0014943 owl:Class HP:0000407 biolink:NamedThing Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. tmpte7i6ely_mondo_relaxed.owl Sensorineural deafness|Sensorineural hearing loss|Hearing loss, sensorineural MSH:D006319|UMLS:C0018784|SNOMEDCT_US:60700002 Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). HP:0008553|HP:0000374|HP:0001916|HP:0008576|HP:0008614|HP:0008611|HP:0008613|HP:0001753|HP:0008565|HP:0008538 human_phenotype owl:Class ENVO:01001136 biolink:NamedThing ocean planet A planet which has a surface layer that nearly completely or completely covered by water, and which has a substantial portion of its mass composed of water. tmpte7i6ely_mondo_relaxed.owl aquaplanet|water world|panthalassic planet owl:Class Na2670092e4854dc4905e3c4a297ea57d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010024 biolink:NamedThing Beemer-Langer syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. tmpte7i6ely_mondo_relaxed.owl Beemer Langer syndrome|short rib-polydactyly syndrome type IV|short rib-polydactyly syndrome, type 4|short rib syndrome, Beemer type|short rib-polydactyly syndrome type 4|short-rib thoracic dysplasia 12|short rib-polydactyly syndrome Beemer type|Beemer-Langer syndrome|short rib polydactyly syndrome Beemer-Langer type|Srps 4|type IV short rib polydactyly syndrome|SRTD12|short rib-polydactyly syndrome, Beemer-Langer type|SRPS type 4 MESH:C537599|SCTID:254052001|DOID:9249|ICD10:Q77.2|UMLS:C0432198|ICD9:756.9|Orphanet:93268|GARD:0004832|OMIM:269860 owl:Class HP:0001789 biolink:NamedThing Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. tmpte7i6ely_mondo_relaxed.owl MSH:D015160|SNOMEDCT_US:276508000|UMLS:C0020305 The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. human_phenotype owl:Class MONDO:0013008 biolink:NamedThing combined immunodeficiency due to STIM1 deficiency Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. tmpte7i6ely_mondo_relaxed.owl STIM1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 2|CID due to STIM1 deficiency|immunodeficiency type 10|IMD10|immunodeficiency 10 ICD10:D81.8|Orphanet:169090|OMIM:612783|MESH:C557827|Orphanet:317430|UMLS:C2748557|GARD:0010523 owl:Class NCBITaxon:70999 biolink:NamedThing Triatominae tmpte7i6ely_mondo_relaxed.owl kissing bugs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016217 biolink:NamedThing mal de Debarquement Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. tmpte7i6ely_mondo_relaxed.owl disembarkment syndrome|sickness of disembarkment|Mal de débarquement|MDD|MdDS|Mal de debarquement syndrome Orphanet:210272|ICD10:H81.8|SCTID:446079007|MedDRA:10064924|UMLS:C1608983|GARD:0006959 owl:Class MONDO:0011417 biolink:NamedThing hemochromatosis type 3 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpte7i6ely_mondo_relaxed.owl hemochromatosis, type 3|hemochromatosis type 3|TFR2-related hemochromatosis|TFR2 hereditary hemochromatosis|HFE3|hereditary hemochromatosis caused by mutation in TFR2|hemochromatosis due to defect in transferrin receptor 2 Orphanet:225123|OMIM:604250|UMLS:C1858664|ICD10:E83.1|GARD:0010093|SCTID:719974003|MESH:C537248|DOID:0111030 https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3 owl:Class HGNC:11762 biolink:NamedThing TFR2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q21.1 biolink:NamedThing 8q21.1 (Human) tmpte7i6ely_mondo_relaxed.owl 83500000 72000000 hg38 owl:Class OBO:CHR_9606-chr8q21 biolink:NamedThing 8q21 (Human) tmpte7i6ely_mondo_relaxed.owl 92300000 72000000 hg38 owl:Class CHEBI:57981 biolink:NamedThing D-phenylalanine zwitterion A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl (2R)-2-ammonio-3-phenylpropanoate|D-phenylalanine|(2R)-2-azaniumyl-3-phenylpropanoate owl:Class MONDO:0014290 biolink:NamedThing neurodegeneration with brain iron accumulation 6 COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. tmpte7i6ely_mondo_relaxed.owl neurodegeneration with brain iron accumulation 6|NBIA6|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation caused by mutation in COASY|neurodegeneration with brain iron accumulation type 6|neurodegeneration with brain iron accumulation due to COASY mutation|CoPAN|COASY protein-associated neurodegeneration SCTID:732264002|DOID:0110740|Orphanet:397725|UMLS:C3810230|ICD10:G23.0|OMIM:615643|GARD:0012571 owl:Class UBERON:0001176 biolink:NamedThing right hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000373 biolink:NamedThing gall bladder carcinoma in situ A carcinoma in situ involving a gall bladder. tmpte7i6ely_mondo_relaxed.owl stage 0 gall bladder carcinoma|gall bladder in situ carcinoma|carcinoma in situ of gall bladder DOID:0050612 owl:Class UBERON:0007762 biolink:NamedThing metatarsophalangeal joint of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014389 biolink:NamedThing gustatory papilla of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001083 biolink:NamedThing myocardium of ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045043 biolink:NamedThing disorder of uterine broad ligament A disease or disorder that involves the broad ligament of uterus. tmpte7i6ely_mondo_relaxed.owl disease of broad ligament of uterus|disorder of broad ligament of uterus|disorder of broad ligament|broad ligament of uterus disease|broad ligament of uterus disease or disorder|disease or disorder of broad ligament of uterus SCTID:237062006|UMLS:C0404479 owl:Class MONDO:0014159 biolink:NamedThing autosomal recessive spinocerebellar ataxia 14 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). tmpte7i6ely_mondo_relaxed.owl SPARCA|spinocerebellar ataxia, autosomal recessive type 14|SCAR14|autosomal recessive spinocerebellar ataxia type 14|spectrin-associated autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|SPTBN2 autosomal recessive cerebellar ataxia|SPARCA1|spinocerebellar ataxia, autosomal recessive 14|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|spectrin-associated autosomal recessive cerebellar ataxia type 1|autosomal recessive cerebellar ataxia-cognitive defect syndrome OMIM:615386|Orphanet:352403|UMLS:C3809327|DOID:0080058|ICD10:G11.1|SCTID:763351003 owl:Class NCBITaxon:12066 biolink:NamedThing Coxsackievirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014117 biolink:NamedThing Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease with focally folded myelin|SBF1 Charcot-Marie-Tooth disease type 4|CMT4B3|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|Charcot-Marie-Tooth disease, type 4B3 SCTID:763345008|Orphanet:363981|UMLS:C3695063|ICD10:G60.0|DOID:0110194|OMIM:615284 owl:Class HGNC:10542 biolink:NamedThing SBF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006090 biolink:NamedThing appendix hyperplastic polyp A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia. tmpte7i6ely_mondo_relaxed.owl appendix metaplastic polyp|vermiform appendix hyperplastic polyp EFO:1000091|UMLS:C3272761|NCIT:C96416 owl:Class MONDO:0013189 biolink:NamedThing trichotillomania A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair. tmpte7i6ely_mondo_relaxed.owl TTM|trichotillomania OMIM:613229|ICD9:312.39|MESH:D014256|GARD:0007803|NCIT:C94336|DOID:0050587|SCTID:17155009|ICD10:F63.3 owl:Class HGNC:20297 biolink:NamedThing SLITRK1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030424 biolink:NamedThing axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000179 biolink:NamedThing haemolymphatic fluid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0017654 biolink:NamedThing buccal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006882 biolink:NamedThing orchitis Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. tmpte7i6ely_mondo_relaxed.owl testisitis|testis inflammation|Inflammation of testis|orchitis|inflammation of testis|orchitis (disease)|Orchititis orchitis (disease) ICD10:N45.2|MedDRA:10031064|UMLS:C0029191|EFO:1001078|SCTID:274718005|NCIT:C97145|HP:0100796|DOID:2518|MESH:D009920 owl:Class UBERON:0034907 biolink:NamedThing pineal parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17q biolink:NamedThing 17q (Human) tmpte7i6ely_mondo_relaxed.owl 83257441 25100000 hg38 owl:Class MONDO:0007543 biolink:NamedThing enolase, sperm specific tmpte7i6ely_mondo_relaxed.owl enolase, sperm specific|ENO4 OMIM:131375 owl:Class MONDO:0010395 biolink:NamedThing phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). tmpte7i6ely_mondo_relaxed.owl PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity|PRPS1 superactivity|gout, PRPS-related SCTID:723454008|ICD10:E79.8|OMIM:300661|Orphanet:3222|DOID:0111260|UMLS:C1970827|MESH:C567064 owl:Class HGNC:9462 biolink:NamedThing PRPS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011851 biolink:NamedThing migraine with or without aura, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl MGR6|migraine with or without aura, susceptibility to, type 6|migraine with or without aura, susceptibility to, 6|migraine, familial hemiplegic, 4 Orphanet:569|MESH:C564385|OMIM:607516 owl:Class UBERON:0001836 biolink:NamedThing saliva tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002442 biolink:NamedThing serotonin secretion involved in inflammatory response The regulated release of serotonin by a cell as part of an inflammatory response. tmpte7i6ely_mondo_relaxed.owl serotonin secretion involved in acute inflammatory response|serotonin release involved in inflammatory response owl:Class GO:0002351 biolink:NamedThing serotonin production involved in inflammatory response The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl serotonin production involved in acute inflammatory response owl:Class GO:0002366 biolink:NamedThing leukocyte activation involved in immune response A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl leukocyte activation during immune response|immune cell activation during immune response|leucocyte activation during immune response owl:Class MONDO:0001537 biolink:NamedThing tuberculous epididymitis An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. tmpte7i6ely_mondo_relaxed.owl ICD9:016.41|UMLS:C0152814|ICD9:016.42|ICD9:016.4|SCTID:83652003|DOID:1251|ICD9:016.46|ICD9:016.40 owl:Class CHEBI:49168 biolink:NamedThing dopa A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring. tmpte7i6ely_mondo_relaxed.owl beta-(3,4-dihydroxyphenyl)-DL-alpha-alanine|(R,S)-dopa|3-hydroxytyrosine|DL-3,4-dopa|3',4'-dihydroxyphenylalanine|dl-beta-(3,4-dihydroxyphenyl)-alpha-alanine|DL-dihydroxyphenylalanine|dopa|3-hydroxy-DL-tyrosine|2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|DL-dioxyphenylalanine|DL-beta-(3,4-dihydroxyphenyl)alanine|(+-)-dopa|(+-)-3-(3,4-dihydroxyphenyl)alanine owl:Class MONDO:0005920 biolink:NamedThing Plasmodium falciparum malaria Malaria resulting from infection by Plasmodium falciparum. tmpte7i6ely_mondo_relaxed.owl malignant tertian fever|malaria fever, subtertian|falciparum malaria [malignant tertian]|malignant tertian fever (finding)|Plasmodium falciparum malaria, unspecified|falciparum malaria ICD10:B50|EFO:0007444|MESH:D016778|UMLS:C0024535|ICD9:084.9|ICD10:B50.9|ICD9:084.0|SCTID:62676009|NCIT:C34798|DOID:14067 owl:Class UBERON:0013778 biolink:NamedThing skin of sole of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008338 biolink:NamedThing plantar part of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007124 biolink:NamedThing pharyngeal pouch 3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011830 biolink:NamedThing duct of lesser vestibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000461 biolink:NamedThing minor vestibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009019 biolink:NamedThing congenital hereditary endothelial dystrophy of cornea A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. tmpte7i6ely_mondo_relaxed.owl autosomal recessive CHED|congenital hereditary endothelial dystrophy type II|corneal endothelial dystrophy|corneal endothelial dystrophy 2|CHED2|autosomal recessive congenital hereditary endothelial dystrophy|CHED|CHEDII|corneal dystrophy, congenital hereditary endothelial|congenital hereditary endothelial dystrophy type 2|CHED2, formerly|infantile hereditary endothelial dystrophy|corneal endothelial dystrophy 2, autosomal recessive, formerly|congenital hereditary endothelial dystrophy of cornea|congenital hereditary endothelial dystrophy of the cornea|corneal endothelial dystrophy type 2|corneal endothelial dystrophy 2, autosomal recessive OMIM:217700|Orphanet:293603|ICD10:H18.5|MESH:C536439|DOID:0060649|GARD:0006196 https://github.com/monarch-initiative/mondo/issues/1368|https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 owl:Class HGNC:16438 biolink:NamedThing SLC4A11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016888 biolink:NamedThing partial deletion of the short arm of chromosome 6 tmpte7i6ely_mondo_relaxed.owl partial monosomy of the short arm of chromosome 6|partial deletion of the short arm of chromosome type 6|partial monosomy of chromosome 6p|partial deletion of chromosome 6p ICD10:Q93.5|Orphanet:261902 owl:Class OBO:CHR_9606-chr6p biolink:NamedThing 6p (Human) tmpte7i6ely_mondo_relaxed.owl 59800000 0 hg38 owl:Class UBERON:0006966 biolink:NamedThing coronary capillary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023554 biolink:NamedThing acquired testicular failure Testicular failure, the cause of which is not present at birth. tmpte7i6ely_mondo_relaxed.owl Acquired testicular failure|acquired testicular failure|Acquired Testicular Failure UMLS:C0403818|SCTID:236811002|NCIT:C131091 owl:Class HGNC:26938 biolink:NamedThing HIKESHI tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000725 biolink:NamedThing exposure to carcinogenic agent An exposure to carcinogenic agent. tmpte7i6ely_mondo_relaxed.owl exposure to carcinogenic agent owl:Class CHEBI:50903 biolink:NamedThing carcinogenic agent A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. tmpte7i6ely_mondo_relaxed.owl carcinogene|carcinogens|agente carcinogeno|cancerigene|carcinogenic agents|carcinogeno|carcinogen|cancerogene owl:Class GO:0046320 biolink:NamedThing regulation of fatty acid oxidation Any process that modulates the frequency, rate or extent of fatty acid oxidation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019395 biolink:NamedThing fatty acid oxidation The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010680 biolink:NamedThing X-linked Emery-Dreifuss muscular dystrophy X-linked form of Emery-Dreifuss muscular dystrophy. tmpte7i6ely_mondo_relaxed.owl Humeroperoneal neuromuscular disease, formerly|EMERY-Dreifuss muscular dystrophy 1, X-linked|EDMD1|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|EMD1|X-linked Emery-Dreifuss muscular dystrophy|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|Humeroperoneal neuromuscular disease|scapuloperoneal syndrome, X-linked, formerly|Emerinopathy|Emery-Dreifuss muscular dystrophy 1, X-linked|scapuloperoneal syndrome, X-linked|humeroperoneal neuromuscular disease|Emery-Dreifuss muscular dystrophy, X-linked DOID:0070246|ICD10:G71.0|OMIM:300696|Orphanet:98863|Orphanet:261|NCIT:C168730|UMLS:CN069573|GARD:0002102|OMIM:310300|UMLS:C0751337 owl:Class NCBITaxon:1314 biolink:NamedThing Streptococcus pyogenes tmpte7i6ely_mondo_relaxed.owl Streptococcus erysipelatos|Streptococcus scarlatinae|Micrococcus scarlatinae|Streptococcus hemolyticus GC_ID:11 ncbi_taxonomy owl:Class MONDO:0019209 biolink:NamedThing Japanese encephalitis A disease due to a virus transmitted by an arthropod). tmpte7i6ely_mondo_relaxed.owl JE|Japanese B encephalitis EFO:0007332|Orphanet:79139|UMLS:C0014057|GARD:0006797|DOID:10844|MESH:D004672|ICD10:A83.0|MedDRA:10014596|SCTID:52947006|NCIT:C34577|ICD9:062.0 https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis owl:Class HP:0002315 biolink:NamedThing Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. tmpte7i6ely_mondo_relaxed.owl Headache|Headaches MSH:D006261|SNOMEDCT_US:25064002|UMLS:C0018681 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. HP:0000266|HP:0001354 human_phenotype owl:Class UBERON:0002364 biolink:NamedThing tympanic membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010070 biolink:NamedThing intermediate layer of tympanic membrane tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17284 biolink:NamedThing POT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010522 biolink:NamedThing replacement element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002532 biolink:NamedThing production of molecular mediator involved in inflammatory response The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation owl:Class UBERON:0003928 biolink:NamedThing digestive system duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013545 biolink:NamedThing atrial fibrillation, familial, 12 Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene. tmpte7i6ely_mondo_relaxed.owl ATFB12|atrial fibrillation, familial, 12|familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, type 12|ABCC9 familial atrial fibrillation UMLS:C3279695|Orphanet:334|OMIM:614050 owl:Class HGNC:60 biolink:NamedThing ABCC9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022287 biolink:NamedThing tear film tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010409 biolink:NamedThing ocular surface region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:22986 biolink:NamedThing COL27A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012057 biolink:NamedThing legionnaire disease, susceptibility to tmpte7i6ely_mondo_relaxed.owl Legionella infection|legionnaire's disease|susceptibility to legionnaire disease|legionnaire disease, susceptibility to GARD:0006876|OMIM:608556 owl:Class MONDO:0005824 biolink:NamedThing Legionnaires' disease A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. tmpte7i6ely_mondo_relaxed.owl Legionella pneumonia|legionnaire's disease|Legionella|infection by Legionella pneumophilia NCIT:C128339|ICD9:482.84|EFO:0007343|DOID:10457|ICD10:A48.1|SCTID:195889001|MESH:D007877 owl:Class HGNC:19986 biolink:NamedThing CYCS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007810 biolink:NamedThing autosomal dominant ichthyosis vulgaris Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern. tmpte7i6ely_mondo_relaxed.owl ichthyosis vulgaris, autosomal dominant|ichthyosis simplex|dominant congenital ichthyosiform erythroderma|ichthyosis vulgaris|dominant ichthyosis vulgaris|autosomal dominant ichthyosis vulgaris 2022-04-01 SCTID:254157005|MESH:D016112|Orphanet:462|UMLS:C0079584|DOID:1702|ICD10:Q80.0|NCIT:C84778|GARD:0001897|OMIM:146700 Reason: duplicate. This will be merged with MONDO_0007810 autosomal dominant ichthyosis vulgaris https://github.com/monarch-initiative/mondo/issues/4293 owl:Class MONDO:0008057 biolink:NamedThing Carney complex, type 1 Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. tmpte7i6ely_mondo_relaxed.owl Carney syndrome|Carney complex, type 1|lamb syndrome|CNC1|Carney Myxoma-endocrine Complex|name syndrome|PRKAR1A Carney complex|myxoma, spotty pigmentation, and endocrine overactivity|Carney complex caused by mutation in PRKAR1A Orphanet:1359|OMIM:160980 owl:Class MONDO:0004404 biolink:NamedThing refractory precursor T-lymphoblastic lymphoma/leukemia T-lymphoblastic leukemia/lymphoma resistant to treatment tmpte7i6ely_mondo_relaxed.owl refractory precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic lymphoma/leukemia refractory|refractory T lymphoblastic leukemia/lymphoma DOID:7936|NCIT:C8696|UMLS:C0854859 owl:Class UBERON:0035006 biolink:NamedThing preputial swelling of female tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019114 biolink:NamedThing psychogenic movement disorders Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype. tmpte7i6ely_mondo_relaxed.owl psychogenic dystonia MedDRA:10072376|UMLS:C3267131|Orphanet:71519|ICD10:F44.4 owl:Class MONDO:0010162 biolink:NamedThing tyrosinemia type III Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. tmpte7i6ely_mondo_relaxed.owl 4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia, type III|TYRSN3|tyrosinemia, type 3|tyrosinemia type III|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia due to HPD deficiency|tyrosinemia type 3|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|4-Hydroxyphenylpyruvic acid oxidase deficiency|4-Hydroxyphenylpyruvate dioxygenase deficiency OMIM:276710|ICD9:270.2|UMLS:C0268623|ICD10:E70.2|Orphanet:69723|GARD:0010332|DOID:0050727|MedDRA:10069461|SCTID:415764005 https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 owl:Class MONDO:0005650 biolink:NamedThing Arenaviridae infectious disease Virus diseases caused by the arenaviridae. tmpte7i6ely_mondo_relaxed.owl Arenaviridae infection|Arenaviridae caused disease or disorder|infection, arenavirus|arenavirus infection|disease caused by arenavirus|infections, Arenaviridae|Arenaviridae disease or disorder|disease due to arenavirus|arenavirus infectious disease|infection, Arenaviridae|infections, arenavirus|arenavirus infections SCTID:3303004|MESH:D001117|EFO:0007150|DOID:3944|ICD9:078.89 owl:Class NCBITaxon:11617 biolink:NamedThing Arenaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009301 biolink:NamedThing 46,XY sex reversal 7 tmpte7i6ely_mondo_relaxed.owl 46,XY sex reversal 7|46,XY gonadal dysgenesis, partial or complete, Dhh-related|46,XY SEX reversal 7|gonadal dysgenesis, XY, Male-limited|46,XY Sex reversal, partial or complete, Dhh-related|46,XY Sex reversal type 7|SRXY7 Orphanet:242|OMIM:233420|DOID:0111774|MESH:C565537 owl:Class MONDO:0014224 biolink:NamedThing developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. tmpte7i6ely_mondo_relaxed.owl MRT38|intellectual disability, autosomal recessive type 38|developmental delay with ASD and gait instability|mental retardation, autosomal recessive 38|mental retardation, autosomal recessive type 38|intellectual disability, autosomal recessive 38 Orphanet:329195|UMLS:C3809753|OMIM:615516 owl:Class UBERON:0005597 biolink:NamedThing lung primordium tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00003374 biolink:NamedThing harvested food material Organic food material that has been harvested. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00003203 biolink:NamedThing food harvesting A process which takes in some food material from an individual or community of plant or animal organisms in a given context and time, and outputs a precursor or consumable food product. This may include a part of an organism or the whole, and may involve killing the organism. tmpte7i6ely_mondo_relaxed.owl This includes harvesting from plants, hunting a deer, or milking process of a cow. The food is derived from part or whole of a single organism species (with perhaps a few exceptions, such as lichen). owl:Class HGNC:26527 biolink:NamedThing HGSNAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012946 biolink:NamedThing intellectual disability, autosomal dominant 3 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 3|autosomal dominant intellectual disability 3|autosomal dominant mental retardation 3|CDH15 autosomal dominant non-syndromic intellectual disability|MRD3|mental retardation, autosomal dominant type 3|autosomal dominant non-syndromic intellectual disability 3|intellectual disability, autosomal dominant type 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|intellectual disability, autosomal dominant 3 Orphanet:178469|MESH:C567241|OMIM:612580|UMLS:C2675488|DOID:0070033 owl:Class HGNC:1754 biolink:NamedThing CDH15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002667 biolink:NamedThing gallbladder signet ring cell adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. tmpte7i6ely_mondo_relaxed.owl signet Ring cell carcinoma of gallbladder|signet Ring cell carcinoma of the gallbladder|gallbladder signet Ring cell carcinoma|gall bladder signet ring cell carcinoma NCIT:C5745|UMLS:C1333758|DOID:3499 owl:Class UBERON:0004113 biolink:NamedThing muscle of auditory ossicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004716 biolink:NamedThing stomach carcinoma in situ A in situ carcinoma that involves the stomach. tmpte7i6ely_mondo_relaxed.owl stage 0 gastric cancer|gastric carcinoma stage 0|stage 0 gastric (stomach) cancer|stomach in situ carcinoma|carcinoma in situ of stomach|carcinoma of stomach stage 0|carcinoma of the stomach stage 0|gastric carcinoma in situ|stomach carcinoma in situ|carcinoma in situ of the stomach|stage 0 stomach cancer|gastric carcinoma, stage 0|stage 0 gastric cancer aJCC v7|stomach carcinoma stage 0|stage 0 carcinoma of stomach|stage 0 gastric carcinoma in situ|stage 0 gastric carcinoma|stage 0 stomach carcinoma|stage 0 gastric cancer aJCC v6 and v7|stage 0 carcinoma of the stomach|stage 0 gastric cancer aJCC v6 ICD9:230.2|SCTID:92756002|ICD10:D00.2|NCIT:C7788|UMLS:C0154060|DOID:9138 owl:Class MONDO:0015133 biolink:NamedThing quantitative and/or qualitative congenital phagocyte defect tmpte7i6ely_mondo_relaxed.owl Orphanet:101985 Editor note: check how relates to phagocytosis terms owl:Class ENVO:00010505 biolink:NamedThing aerosol Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001332 biolink:NamedThing amorphous A morphology quality inhering in a bearer by virtue of the bearer's lack of distinct morphology. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011545 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 3 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, nocturnal frontal lobe, type 3|nocturnal frontal lobe epilepsy 3|ENFL3|epilepsy, nocturnal frontal lobe, 3|CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2|autosomal dominant nocturnal frontal lobe epilepsy type 3 OMIM:605375|DOID:0060684|MESH:C565334|Orphanet:98784|UMLS:C1854335 owl:Class UBERON:0018692 biolink:NamedThing dorsal side of post-anal tail tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004313 biolink:NamedThing gasserian ganglion meningioma A meningioma that affects the trigeminal ganglion. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of gasserian ganglion|gasserian ganglion meningioma (disease)|meningioma of the Gasserian ganglion|meningioma of Gasserian ganglion|Gasserian meningioma UMLS:C1333760|NCIT:C6779|DOID:7635 owl:Class UBERON:3011045 biolink:NamedThing gasserian ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009277 biolink:NamedThing glaucoma 3A An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1. tmpte7i6ely_mondo_relaxed.owl buphthalmos|simple buphthalmos|Primary Congenital glaucoma 3A|GLC3A|glaucoma, primary open angle, juvenile-onset|glaucoma 3, primary congenital, type a|glaucoma 3, primary congenital, A|glaucoma, congenital|glaucoma, primary open angle, adult-onset NCIT:C148260|ICD9:743.21|DOID:11211|OMIM:231300|Orphanet:98976|Orphanet:98977 Editor note: check DO placement owl:Class HGNC:2597 biolink:NamedThing CYP1B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013827 biolink:NamedThing hyperekplexia 3 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene. tmpte7i6ely_mondo_relaxed.owl hyperekplexia 3|hyperekplexia type 3|SLC6A5 hereditary hyperekplexia|HKPX3|hereditary hyperekplexia caused by mutation in SLC6A5 ICD10:G25.8|UMLS:C3553288|OMIM:614618|DOID:0060698|Orphanet:3197 owl:Class HGNC:11051 biolink:NamedThing SLC6A5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034909 biolink:NamedThing intermaxillary suture tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10683 biolink:NamedThing SDHD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014116 biolink:NamedThing complex cortical dysplasia with other brain malformations 2 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. tmpte7i6ely_mondo_relaxed.owl cortical dysplasia, Complex, with Other brain malformations type 2|CDCBM2|complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|KIF5C complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 2|cortical dysplasia, complex, with other brain malformations 2 DOID:0090133|UMLS:C3809013|OMIM:615282 owl:Class HGNC:6325 biolink:NamedThing KIF5C tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900121 biolink:NamedThing negative regulation of receptor binding Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpte7i6ely_mondo_relaxed.owl down regulation of receptor binding|inhibition of receptor binding|inhibition of receptor ligand|down-regulation of receptor binding|downregulation of receptor binding|down regulation of receptor-associated protein activity owl:Class MONDO:0016706 biolink:NamedThing chordoid glioma of the third ventricle A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. tmpte7i6ely_mondo_relaxed.owl chordoid glioma of third ventricle|third ventricle chordoid glioma|chordoid glioma (morphologic abnormality)|chordoid glioma|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of 3rd ventricle|chordoid glioma of the third ventricle|chordoid glioma of the 3rd ventricle Orphanet:251674|ICD10:C71.9|DOID:3774|ONCOTREE:CHGL|ICDO:9444/1|NCIT:C5592|DOID:3773|GARD:0010636|UMLS:C1322252|SCTID:715900001 MONDO:0002773 https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle owl:Class HGNC:7128 biolink:NamedThing MLH3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012442 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 66 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in DCDC2|DFNB66|deafness, autosomal recessive type 66|autosomal recessive nonsyndromic deafness 66|autosomal recessive deafness 66|DCDC2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 66|autosomal recessive nonsyndromic deafness type 66 ICD10:H90.3|DOID:0110517|MESH:C565701|UMLS:C1857750|OMIM:610212 owl:Class HGNC:18141 biolink:NamedThing DCDC2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003970 biolink:NamedThing placental labyrinth vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001246 biolink:NamedThing interlobular bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008143 biolink:NamedThing osteoarthritis susceptibility 1 Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene. tmpte7i6ely_mondo_relaxed.owl FRZB osteoarthritis|Oa|OS1|osteoarthritis susceptibility 1|osteoarthritis susceptibility type 1|osteoarthritis caused by mutation in FRZB|osteoarthritis of hip, female-specific, susceptibility to|osteoarthrosis ICD9:715.98|ICD9:715.90|OMIM:165720 https://github.com/monarch-initiative/mondo/issues/1395 owl:Class MONDO:0011581 biolink:NamedThing arrhythmogenic cardiomyopathy with woolly hair and keratoderma A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. tmpte7i6ely_mondo_relaxed.owl woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|cardiomyopathy dilated with woolly hair and keratoderma|keratoderma with woolly hair type II|cardiomyopathy, dilated, with woolly hair and keratoderma|KWWH type II|Carvajal syndrome|arrhythmogenic cardiomyopathy with woolly hair and keratoderma|dilated cardiomyopathy with woolly hair and keratoderma|DCWHK|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome DOID:0090128|OMIM:615821|SCTID:719835006|OMIM:605676|Orphanet:65282|GARD:0005595|MESH:C535581|UMLS:C1854063 https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma|https://github.com/monarch-initiative/mondo/issues/1120 owl:Class HGNC:3052 biolink:NamedThing DSP tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23116 biolink:NamedThing chlorine atom tmpte7i6ely_mondo_relaxed.owl chlorine|cloro|chlore|Cl|chlorum|17Cl|Chlor owl:Class MONDO:0007918 biolink:NamedThing microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. tmpte7i6ely_mondo_relaxed.owl lymphedema and retinal Folds with microcephaly and microphthalmos|MCLMR|Cdmmr syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|lymphedema, microcephaly, chorioretinopathy syndrome|microcephaly lymphedema chorioretinal dysplasia|microcephaly, lymphedema, chorioretinal dysplasia syndrome|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|chorioretinal dysplasia-microcephaly-mental retardation syndrome|lymphedema and retinal folds with ficrocephaly and microphthalmos|MLCRD|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|lymphedema, microcephaly and chorioretinopathy syndrome|Mlcrd syndrome|microcephaly-lymphedema-chorioretinopathy syndrome|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant ICD10:Q87.8|OMIM:152950|UMLS:C1835265|MESH:C537711|GARD:0003622|DOID:0060349|Orphanet:2526 owl:Class UBERON:0015593 biolink:NamedThing frontal gyrus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3755 biolink:NamedThing FLNB tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000040 biolink:NamedThing monoblast A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. tmpte7i6ely_mondo_relaxed.owl colony forming unit macrophage|colony forming unit monocyte|CFU-M|monocyte stem cell CALOHA:TS-1195|FMA:83553 Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0014591 biolink:NamedThing autosomal dominant Robinow syndrome 2 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Robinow syndrome type 2|autosomal dominant Robinow syndrome caused by mutation in DVL1|Robinow syndrome, autosomal dominant 2|DRS2|Robinow syndrome, autosomal dominant type 2|DVL1 autosomal dominant Robinow syndrome UMLS:C4225363|OMIM:616331|DOID:0060765|ICD10:Q87.1|Orphanet:97360|Orphanet:3107 owl:Class HGNC:3084 biolink:NamedThing DVL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014198 biolink:NamedThing mitochondrial DNA depletion syndrome 13 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome type 13|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|FBXL4 mitochondrial DNA depletion syndrome|FBXL4 deficiency|BXL4-related early-onset mitochondrial encephalopathy|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|MTDPS13|encephalomyopathic mitochondrial DNA depletion syndrome-13 ICD10:E88.8|UMLS:C3809592|GARD:0013298|OMIM:615471|Orphanet:369897|DOID:0080131|SCTID:765403009 owl:Class HGNC:13601 biolink:NamedThing FBXL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018113 biolink:NamedThing isolated plagiocephaly Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry. tmpte7i6ely_mondo_relaxed.owl synostotic plagiocephaly|non-syndromic unicoronal synostosis Orphanet:35098|OMIM:616602|ICD10:Q67.3|OMIM:123100|OMIM:615314 owl:Class HsapDv:0000136 biolink:NamedThing 42-year-old human stage Adult stage that refers to an adult who is over 42 and under 43. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000135 biolink:NamedThing 41-year-old human stage Adult stage that refers to an adult who is over 41 and under 42. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008119 biolink:NamedThing spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. tmpte7i6ely_mondo_relaxed.owl OPCA4|cerebelloparenchymal disorder 1|OPCA 4|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1|Menzel type OPCA|Schut-haymaker type OPCA|OPCA 1|spinocerebellar ataxia type 1|olivopontocerebellar atrophy 1|spinocerebellar atrophy 1|Sca1|olivopontocerebellar atrophy 4|OPCA1|ATXN1 autosomal dominant cerebellar ataxia type I|spinocerebellar ataxia 1 SCTID:715748006|NCIT:C129982|GARD:0004071|DOID:0050954|OMIM:164400|ICD10:G11.8|Orphanet:98755|UMLS:C0752120 owl:Class HGNC:10548 biolink:NamedThing ATXN1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011390 biolink:NamedThing pudendal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000012 biolink:NamedThing somatic nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:88188 biolink:NamedThing drug allergen Any drug which causes the onset of an allergic reaction. tmpte7i6ely_mondo_relaxed.owl allergenic drug owl:Class UBERON:0009206 biolink:NamedThing lateral nasal process surface ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017783 biolink:NamedThing congenital pancreatic cyst tmpte7i6ely_mondo_relaxed.owl neonatal congenital pancreatic cyst|true congenital pancreatic cyst Orphanet:313906|SCTID:204808002|ICD10:Q45.2 owl:Class GO:0060326 biolink:NamedThing cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004796 biolink:NamedThing prostate gland secretion tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070129 biolink:NamedThing regulation of mitochondrial translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrial protein formation|regulation of mitochondrial protein biosynthesis|regulation of mitochondrial protein synthesis|regulation of mitochondrial protein anabolism owl:Class UBERON:0003111 biolink:NamedThing sphenoid region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013441 biolink:NamedThing asphyxiating thoracic dystrophy 4 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. tmpte7i6ely_mondo_relaxed.owl asphyxiating thoracic dystrophy 4|SRTD4|ATD4|asphyxiating thoracic dystrophy type 4|short-rib thoracic dysplasia 4 with or without polydactyly DOID:0110088|UMLS:C3151185|Orphanet:474|OMIM:613819|ICD10:Q77.2 owl:Class HGNC:25660 biolink:NamedThing TTC21B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019846 biolink:NamedThing acquired central diabetes insipidus Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. tmpte7i6ely_mondo_relaxed.owl acquired neurogenic diabetes insipidus|acquired CDI|acquired central diabetes insipidus ICD10:E23.2|Orphanet:95626 owl:Class MONDO:0009326 biolink:NamedThing congenital heart block Heart block that occurs on or before 28 days of life. tmpte7i6ely_mondo_relaxed.owl heart block, congenital|congenital atrioventricular block DOID:990|UMLS:C0149530|ICD10:Q24.6|MedDRA:10019263|GARD:0006164|MESH:C535758|Orphanet:60041|OMIM:234700|SCTID:46619002|ICD9:746.86 https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block owl:Class MONDO:0000743 biolink:NamedThing oral hairy leukoplakia An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. tmpte7i6ely_mondo_relaxed.owl hairy leukoplakia of mouth|hairy leukoplakia of oral mucosa|oral hairy keratosis|hairy leukoplakia of the oral mucosa|hairy leukoplakia of the mouth|mouth hairy leukoplakia|oral cavity hairy leukoplakia|hairy leukoplakia NCIT:C3722|ICD10:K13.3|UMLS:C0206186|ICD9:528.6|MESH:D017733|SCTID:414952002|DOID:0060315 owl:Class MONDO:0000488 biolink:NamedThing periampullary adenoma A adenoma that involves the periampullary region of duodenum. tmpte7i6ely_mondo_relaxed.owl periampullary region of duodenum adenoma DOID:0050849|UMLS:CN068444 owl:Class UBERON:0012273 biolink:NamedThing periampullary region of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000097 biolink:NamedThing desert area A region rendered barren or partially barren by environmental extremes, especially by low rainfall. tmpte7i6ely_mondo_relaxed.owl arid region owl:Class ENVO:01000230 biolink:NamedThing arid An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011897 biolink:NamedThing leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. tmpte7i6ely_mondo_relaxed.owl ataxia-delayed dentition-hypomyelination syndrome|4H syndrome|leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|dentoleukoencephalopathy|HLD7|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy|hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|tach syndrome|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|ataxia, delayed dentition, and hypomyelination Orphanet:137639|ICD10:E75.2|DOID:0060794|SCTID:721846006|Orphanet:88637|Orphanet:447893|Orphanet:447896|ICD10:G11.1|Orphanet:77295|OMIM:607694 owl:Class HGNC:30074 biolink:NamedThing POLR3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014663 biolink:NamedThing Silver-Russell syndrome 3 tmpte7i6ely_mondo_relaxed.owl GRDF|growth restriction, severe, with distinctive facies|SRS3 UMLS:C4225307|OMIM:616489 owl:Class HGNC:5466 biolink:NamedThing IGF2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006304 biolink:NamedThing future trigeminal ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001675 biolink:NamedThing trigeminal ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036217 biolink:NamedThing coelomic fluid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003721 biolink:NamedThing lingual nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000375 biolink:NamedThing mandibular nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004778 biolink:NamedThing larynx submucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410032 biolink:NamedThing trabecular sinus of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004771 biolink:NamedThing posterior nasal aperture tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003128 biolink:NamedThing cranium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010214 biolink:NamedThing xeroderma pigmentosum variant type Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum with normal DNA repair rates|xeroderma pigmentosum, variant type|xeroderma pigmentosum variant|xeroderma pigmentosum variant type|photosensitivity with defective DNA synthesis|XPV DOID:0110847|ICD10:Q82.1|UMLS:C1848410|NCIT:C141367|GARD:0005630|Orphanet:910|MESH:C536766|Orphanet:90342|OMIM:278750 https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type owl:Class HGNC:9181 biolink:NamedThing POLH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903564 biolink:NamedThing regulation of protein localization to cilium Any process that modulates the frequency, rate or extent of protein localization to cilium. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061512 biolink:NamedThing protein localization to cilium A process in which a protein is transported to, or maintained in, a location within a cilium. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000128 biolink:NamedThing dry valley A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14270 biolink:NamedThing PCDH19 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002485 biolink:NamedThing retinal melanocyte A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-12-03T03:25:32Z cell owl:Class MONDO:0007007 biolink:NamedThing Ureaplasma urethritis Infections with bacteria of the genus ureaplasma. tmpte7i6ely_mondo_relaxed.owl infection, Ureaplasma|Ureaplasma infection|Ureaplasma caused disease or disorder|infections, Ureaplasma|Ureaplasma infectious disease|Ureaplasma disease or disorder EFO:1001225|SCTID:51105006|MESH:D016869 owl:Class NCBITaxon:2129 biolink:NamedThing Ureaplasma tmpte7i6ely_mondo_relaxed.owl GC_ID:4|PMID:1906731|PMID:8782697|PMID:11034506|PMID:2223597 ncbi_taxonomy owl:Class UBERON:0011566 biolink:NamedThing lumen of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005216 biolink:NamedThing optic eminence surface ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4800 biolink:NamedThing HSD17B10 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p11.2 biolink:NamedThing 16p11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 35300000 28500000 hg38 owl:Class UBERON:0006440 biolink:NamedThing os clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013839 biolink:NamedThing hereditary sensory and autonomic neuropathy type 6 Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene. tmpte7i6ely_mondo_relaxed.owl HSAN6|DST hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type VI|HSAN 6|hereditary sensory and autonomic neuropathy type VI|neuropathy, hereditary sensory and autonomic, type 6|familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy caused by mutation in DST ICD10:G60.8|DOID:0070151|OMIM:614653|Orphanet:314381|UMLS:C3539003 owl:Class HGNC:1090 biolink:NamedThing DST tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:131530 biolink:NamedThing pyridoxal(1+) A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal. tmpte7i6ely_mondo_relaxed.owl pyridoxal cation|4-formyl-3-hydroxy-5-(hydroxymethyl)-2-methylpyridin-1-ium owl:Class MONDO:0004979 biolink:NamedThing asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. tmpte7i6ely_mondo_relaxed.owl bronchial hyperreactivity|exercise-induced asthma|chronic obstructive asthma|chronic obstructive asthma with acute exacerbation|chronic obstructive asthma with status asthmaticus|exercise induced asthma OMIM:611960|ICD10:J45|ICD9:493.9|EFO:0000270|OMIM:608584|HP:0002099|MESH:D001249|OMIM:607277|ICD9:493|ICD10:J45.909|ICD9:493.81|GARD:0010246|OMIM:611064|OMIM:600807|UMLS:C0004096|DOID:2841|ICD10:J45.90|SCTID:31387002|KEGG:05310|NCIT:C28397 owl:Class UBERON:0001916 biolink:NamedThing endothelium of arteriole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001282 biolink:NamedThing intralobular bile duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900451 biolink:NamedThing positive regulation of glutamate receptor signaling pathway Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl positive regulation of glutamate signaling pathway|activation of glutamate receptor signaling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate signaling pathway|up-regulation of glutamate signalling pathway|upregulation of glutamate signaling pathway|up regulation of glutamate receptor signaling pathway|upregulation of glutamate signalling pathway|upregulation of glutamate receptor signaling pathway|up-regulation of glutamate receptor signaling pathway|up-regulation of glutamate signaling pathway|activation of glutamate signaling pathway|up regulation of glutamate signalling pathway|activation of glutamate signalling pathway owl:Class GO:0007215 biolink:NamedThing glutamate receptor signaling pathway A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpte7i6ely_mondo_relaxed.owl glutamate signaling pathway|glutamate signalling pathway owl:Class MONDO:0007044 biolink:NamedThing acrodysostosis 1 with or without hormone resistance An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. tmpte7i6ely_mondo_relaxed.owl acrodysostosis 1 with or without hormone resistance|ADOHR|ACRDYS1|acrodysostosis 1 Orphanet:950|NCIT:C136464|UMLS:C3276228|Orphanet:280651|OMIM:101800 owl:Class UBERON:0004340 biolink:NamedThing allantois tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q13.3 biolink:NamedThing 20q13.3 (Human) tmpte7i6ely_mondo_relaxed.owl 64444167 56400000 hg38 owl:Class CL:0002264 biolink:NamedThing type A cell of stomach A type of enteroendocrine cell found in the stomach that secretes glucagon. tmpte7i6ely_mondo_relaxed.owl FMA:83411 tmeehan 2010-09-10T10:54:42Z cell owl:Class UBERON:0006872 biolink:NamedThing handplate apical ectodermal ridge tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018207 biolink:NamedThing 2p13.2 microdeletion syndrome 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. tmpte7i6ely_mondo_relaxed.owl Del(2)(p13.2) UMLS:CN204723|ICD10:Q93.5|Orphanet:363680 owl:Class UBERON:0003335 biolink:NamedThing serosa of colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035431 biolink:NamedThing mediastinal pleura tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005268 biolink:NamedThing renal cortex artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001273 biolink:NamedThing ilium tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q22 biolink:NamedThing 9q22 (Human) tmpte7i6ely_mondo_relaxed.owl 99800000 87800000 hg38 owl:Class HGNC:2959 biolink:NamedThing DNASE1L3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002029 biolink:NamedThing Fc-epsilon RIalpha-low mast cell progenitor A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-04-27T01:22:19Z cell owl:Class CL:0002044 biolink:NamedThing Kit-positive, integrin beta7-high basophil mast progenitor cell A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative. tmpte7i6ely_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-27T01:22:38Z cell owl:Class MONDO:0018310 biolink:NamedThing Langerhans cell histiocytosis Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. tmpte7i6ely_mondo_relaxed.owl histiocytosis X|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|Langerhans cell histiocytosis|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|letterer-Siwe disease involving spleen|letterer-Siwe disease involving lymph nodes of multiple sites|letterer-Siwe disease involving intra-abdominal lymph nodes|Langerhans-cell histiocytosis|Langerhan's cell histiocytosis|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|Langerhans cell histiocytosis, NOS|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease of intrapelvic lymph nodes|LCH|letterer-Siwe disease of intrathoracic lymph nodes|Langerhans cell granulomatosis|letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease of intra-abdominal lymph nodes|letterer-Siwe disease involving lymph nodes of head, face and neck|Lch|letterer-Siwe disease involving lymph nodes of axilla and upper limb|letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease involving intrathoracic lymph nodes|letterer-Siwe disease of spleen|letterer-Siwe disease involving lymph nodes of head, face, and neck|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease involving intrapelvic lymph nodes|Langerhans cell histiocytosis, Not otherwise specified|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb UMLS:C0432549|SCTID:65399007|ICD9:202.5|ICDO:9753/1|UMLS:C0019621|UMLS:C0432548|ICDO:9751/3|ICD10:C96.6|ICDO:9752/1|NCIT:C6920|NCIT:C3107|OMIM:604856|Orphanet:389|SCTID:39795003|OMIM:246400|ICD10:C96.0|ICD10:C96.5|NCIT:C3160|UMLS:C0432547|UMLS:C0432551|GARD:0006858|UMLS:C0432550|ICDO:9754/3|UMLS:C0023381|ONCOTREE:LCH|EFO:1000318|MedDRA:10069698|UMLS:C0432552|UMLS:C0432554|DOID:2571|UMLS:C0432553|ICDO:9751/1|ICD9:277.89 We follow NCIT in classifying this as a neoplasm but this may be revisited owl:Class CL:0000453 biolink:NamedThing Langerhans cell Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. tmpte7i6ely_mondo_relaxed.owl LC|Langerhans' cell CALOHA:TS-2375|BTO:0000705|FMA:63072 Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. cell owl:Class MONDO:0000986 biolink:NamedThing pleurisy Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. tmpte7i6ely_mondo_relaxed.owl pleuritis|inflammation of pleura|pleura inflammation EFO:1001825|UMLS:C0032231|ICD9:511.8|MESH:D010998|NCIT:C26860|ICD10:R09.1|DOID:10247|SCTID:196075003 owl:Class HP:0002102 biolink:NamedThing Pleuritis Inflammation of the pleura. tmpte7i6ely_mondo_relaxed.owl Pleurisy|Inflammation of tissues lining lungs and chest SNOMEDCT_US:196075003|MSH:D010998|UMLS:C0032231 human_phenotype owl:Class MONDO:0005751 biolink:NamedThing epidemic pleurodynia An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. tmpte7i6ely_mondo_relaxed.owl epidemic myalgia|epidemic, myositis|Bamble disease|devil's grip|epidemic pleurisy|Bornholm disease DOID:10882|ICD9:074.1|ICD10:B33.0|SCTID:83264000|UMLS:C0032238|MESH:D011000|EFO:0007259 owl:Class GO:1902340 biolink:NamedThing negative regulation of chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. tmpte7i6ely_mondo_relaxed.owl inhibition of eukaryotic chromosome condensation|downregulation of nuclear chromosome condensation|downregulation of eukaryotic chromosome condensation|inhibition of chromosome condensation|negative regulation of eukaryotic chromosome condensation|inhibition of nuclear chromosome condensation|down-regulation of eukaryotic chromosome condensation|downregulation of chromosome condensation|down regulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|down-regulation of chromosome condensation|down regulation of nuclear chromosome condensation|negative regulation of nuclear chromosome condensation|down-regulation of nuclear chromosome condensation owl:Class GO:0030261 biolink:NamedThing chromosome condensation The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpte7i6ely_mondo_relaxed.owl eukaryotic chromosome condensation|nuclear chromosome condensation|DNA condensation owl:Class UBERON:0009664 biolink:NamedThing gut mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905083 biolink:NamedThing negative regulation of mitochondrial translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. tmpte7i6ely_mondo_relaxed.owl downregulation of mitochondrial translation elongation|down regulation of mitochondrial translational elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|down regulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|down-regulation of mitochondrial translational elongation|downregulation of mitochondrial translational elongation|inhibition of mitochondrial translation elongation owl:Class GO:0140237 biolink:NamedThing translation at presynapse, modulating chemical synaptic transmission Translation that occurs at the presynapse, and that modulates chemical synaptic transmission. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013450 biolink:NamedThing congenital stationary night blindness 1D Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene. tmpte7i6ely_mondo_relaxed.owl congenital stationary night blindness caused by mutation in SLC24A1|congenital stationary night blindness type 1D|Csnb, complete, autosomal recessive|night blindness, congenital stationary, type 1D|congenital stationary night blindness 1D autosomal recessive|congenital stationary night blindness 1D|CSNB1D|SLC24A1 congenital stationary night blindness UMLS:C3151193|DOID:0110868|OMIM:613830 owl:Class HGNC:10975 biolink:NamedThing SLC24A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14977 biolink:NamedThing SNX14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012915 biolink:NamedThing chromosome 1q21.1 duplication syndrome Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual. tmpte7i6ely_mondo_relaxed.owl 1q21.1 microduplication syndrome|trisomy 1q21.1|chromosome 1q21.1 duplication syndrome|dup(1)(q21.1) MESH:C567290|ICD10:Q92.3|GARD:0010591|OMIM:612475|DOID:0060435|UMLS:C2675891|Orphanet:250994 https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome owl:Class UBERON:0004108 biolink:NamedThing clivus of occipital bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2397 biolink:NamedThing CRYBB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012588 biolink:NamedThing neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpte7i6ely_mondo_relaxed.owl CLN7|MFSD8 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|neuronal ceroid lipofuscinosis 7|CLN7 disease, late infantile|CLN7 disease|neuronal ceroid lipofuscinosis type 7|ceroid lipofuscinosis, neuronal, type 7|ceroid lipofuscinosis, neuronal, 7 MESH:C563989|Orphanet:228366|GARD:0001220|ICD10:E75.4|OMIM:610951|Orphanet:168491|DOID:0110722 https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 owl:Class NCBITaxon:33743 biolink:NamedThing Kyasanur Forest disease virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:15807 biolink:NamedThing ZNF335 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000081 biolink:NamedThing child stage Immature stage that refers to child who is over 2 and under 13 years old. tmpte7i6ely_mondo_relaxed.owl 2-12 years owl:Class HsapDv:0000083 biolink:NamedThing infant stage Immature stage that refers to an infant who is over 31 days and is under 24 months old. tmpte7i6ely_mondo_relaxed.owl 1-23 months|infantile stage owl:Class MONDO:0013783 biolink:NamedThing microphthalmia, isolated, with coloboma 7 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in ABCB6|microphthalmia, isolated, with coloboma 7|MCOPCB7|ABCB6 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma type 7 OMIM:614497|UMLS:C3281027|Orphanet:98938 owl:Class MONDO:0005791 biolink:NamedThing herpangina A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. tmpte7i6ely_mondo_relaxed.owl vesicular pharyngitis DOID:10883|ICD10:B08.5|EFO:0007306|MESH:D006557|SCTID:274102007|ICD9:074.0|UMLS:C0019338 owl:Class NCBITaxon:39054 biolink:NamedThing Enterovirus A71 tmpte7i6ely_mondo_relaxed.owl Human enterovirus type 71|EV-71|Enterovirus 71|Human enterovirus A71|EV-A71|EV71|enterovirus type 71|Enterovirus EV-A71|Human enterovirus 71 GC_ID:1 ncbi_taxonomy owl:Class GO:0007275 biolink:NamedThing multicellular organism development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006929 biolink:NamedThing Proteus infectious disease Infections with bacteria of the genus proteus. tmpte7i6ely_mondo_relaxed.owl infection, Proteus|Proteus caused disease or disorder|Proteus infectious disease|Proteus disease or disorder|Proteus infection|infections, Proteus EFO:1001130|MESH:D011512|SCTID:186437007|UMLS:C0033700 owl:Class HGNC:9870 biolink:NamedThing RARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003947 biolink:NamedThing brain ventricle/choroid plexus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005311 biolink:NamedThing mammary placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008425 biolink:NamedThing mammary ridge tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014903 biolink:NamedThing seizures, benign familial infantile, 5 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene. tmpte7i6ely_mondo_relaxed.owl seizures, benign familial infantile, type 5|SCN8A benign familial infantile epilepsy|BFIS5|benign familial infantile epilepsy caused by mutation in SCN8A|seizures, benign familial infantile, 5|seizures, benign familial infantile, 5; BFIS5|convulsions, benign familial infantile, 5 UMLS:C4310728|OMIM:617080 owl:Class MONDO:0006491 biolink:NamedThing vulvar lichen sclerosus A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. tmpte7i6ely_mondo_relaxed.owl mammalian vulva lichen sclerosus et atrophicus|lichen sclerosus et atrophicus of mammalian vulva|vulvar lichen sclerosus EFO:1000623|UMLS:C0022783|NCIT:C27723|MESH:D007724 owl:Class MONDO:0016273 biolink:NamedThing malignant germ cell tumor of corpus uteri A malignant germ cell tumor that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl malignant germ cell tumor of the corpus uteri|germ cell cancer of corpus uteri|body of uterus malignant germ cell tumor|germ cell cancer of the corpus uteri ICD10:C54.0|ICD10:C54.1|ICD10:C54.8|Orphanet:213751|ICD10:C54.3|UMLS:CN201062|ICD10:C54.2 owl:Class UBERON:0002445 biolink:NamedThing ulnare tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001424 biolink:NamedThing ulna tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005111 biolink:NamedThing Epstein-Barr virus infection An infection that is caused by Epstein-Barr virus. tmpte7i6ely_mondo_relaxed.owl infections, Epstein-Barr Virus|infections, EBV|Human gammaherpesvirus 4 disease or disorder|Virus infections, Epstein-Barr|Herpesvirus 4 infections, Human|Epstein-Barr Virus infection|EBV infections|Human Herpesvirus 4 infections|Human gammaherpesvirus 4 caused disease or disorder|Human gammaherpesvirus 4 infectious disease|Epstein Barr Virus infections|EBV infection|Human Herpes Virus 4 infections MESH:D020031|EFO:0000769|UMLS:C0149678|NCIT:C38759 owl:Class MONDO:0004492 biolink:NamedThing mediastinitis An inflammatory process affecting the mediastinum. tmpte7i6ely_mondo_relaxed.owl MESH:D008480|NCIT:C26827|DOID:819|ICD10:J98.51|SCTID:47597000|UMLS:C0025064|ICD9:519.2|ICD10:J98.5 There is a question whether the inflammation site is the mediastinum itself or the mediastinal pleura. We are using mediastinum here to be consistent with the definition and classification from NCIT. https://github.com/monarch-initiative/mondo/issues/2198 owl:Class MONDO:0011756 biolink:NamedThing Senior-Loken syndrome 4 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. tmpte7i6ely_mondo_relaxed.owl SLSN4|Senior-Loken syndrome type 4|NPHP4 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in NPHP4|Senior-Loken syndrome 4|SENIOR-Loken syndrome 4 Orphanet:3156|UMLS:C1846979|OMIM:606996|MESH:C537581 owl:Class HGNC:19104 biolink:NamedThing NPHP4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0120025 biolink:NamedThing plasma membrane bounded cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098590 biolink:NamedThing plasma membrane region A membrane that is a (regional) part of the plasma membrane. tmpte7i6ely_mondo_relaxed.owl region of plasma membrane owl:Class UBERON:0009669 biolink:NamedThing embryonic cloacal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class Nbba63693cd304042bb2e6cf9689fa922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007699 biolink:NamedThing Hashimoto thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. tmpte7i6ely_mondo_relaxed.owl Hashimoto struma|thyroid autoantibodies|Hashimoto's disease|thyroiditides, Hashimoto|autoimmune thyroiditis|Hashimoto's syndromes|thyroiditides, chronic lymphocytic|Hashimoto disease|disease, Hashimoto's|hypothyroidism, autoimmune|Hashimoto's syndrome|lymphocytic thyroiditis, chronic|Hashimoto thyroiditides|thyroiditis, chronic lymphocytic|chronic lymphocytic thyroiditides|disease, Hashimoto|Hashimotos syndrome|thyroiditis, Hashimoto|HT|Hashimoto's thyroiditis|lymphocytic thyroiditides, chronic|Hashimoto's struma|Hashimoto syndrome|chronic lymphocytic thyroiditis|hypothyroidism, autoimmune thyroid autoantibodies, included|syndromes, Hashimoto's|Hashimotos disease|Hashimoto thyroiditis|syndrome, Hashimoto's|Hashimoto hypothyroidism|lymphocytic thyroiditis|Ht UMLS:C0677607|DOID:7188|NCIT:C27191|OMIM:140300|Wikipedia:Hashimoto's_thyroiditis|ICD10:E06.3|OMIM:608175|ICD9:245.2|MESH:D013967|Orphanet:855|MESH:D050031|EFO:0003779 owl:Class HGNC:2505 biolink:NamedThing CTLA4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004064 biolink:NamedThing neural tube basal plate tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:18248 biolink:NamedThing iron atom An iron group element atom that has atomic number 26. tmpte7i6ely_mondo_relaxed.owl Fe|Iron|26Fe|iron|fer|hierro|ferrum|Eisen owl:Class OBO:CHR_9606-chr2p16.1-p15 biolink:NamedThing 2p16.1-p15 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class OBO:CHR_9606-chr2p biolink:NamedThing 2p (Human) tmpte7i6ely_mondo_relaxed.owl 93900000 0 hg38 owl:Class OBO:CHR_9606-chr22q13 biolink:NamedThing 22q13 (Human) tmpte7i6ely_mondo_relaxed.owl 50818468 37200000 hg38 owl:Class UBERON:0002434 biolink:NamedThing pituitary stalk tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003701 biolink:NamedThing calcaneal tendon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007974 biolink:NamedThing intellectual disability, autosomal dominant 1 An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures. tmpte7i6ely_mondo_relaxed.owl chromosome 2Q23.1 deletion syndrome|autosomal dominant mental retardation 1|intellectual disability, autosomal dominant 1|intellectual disability, autosomal dominant type 1|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|mental retardation, autosomal dominant 1|autosomal dominant intellectual disability 1|autosomal dominant non-syndromic intellectual disability 1|mental retardation, autosomal dominant type 1|MBD5 autosomal dominant non-syndromic intellectual disability|MRD1 OMIM:156200|NCIT:C141424|Orphanet:228402|DOID:0070031|MESH:C566947 owl:Class HGNC:20444 biolink:NamedThing MBD5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007828 biolink:NamedThing girdle bone/zone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021501 biolink:NamedThing benign neoplasm of small intestine A benign neoplasm that involves the small intestine. tmpte7i6ely_mondo_relaxed.owl benign small intestinal neoplasm|benign small intestine tumor|small intestine benign neoplasm|benign small intestinal tumor|benign tumor of the small intestine|benign tumor of small intestine|benign neoplasm of the small intestine|benign small intestine neoplasm NCIT:C3600|UMLS:C0153944|SCTID:92385005|ICD9:211.2 owl:Class MONDO:0005393 biolink:NamedThing gout A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. tmpte7i6ely_mondo_relaxed.owl tophaceous disease|gouty arthropathy|gouty arthritis|articular gout|gout|chronic gout|tophaceous gout SCTID:190828008|DOID:13189|ICD9:274.9|UMLS:C0018099|ICD9:274.00|ICD10:M10|ICD10:M10.9|ICD9:274|EFO:0004274|MESH:D006073|ICD9:274.0|UMLS:C0003868|NCIT:C34650 owl:Class MONDO:0003366 biolink:NamedThing hydrarthrosis Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl MESH:D006833|ICD9:719.08|DOID:528|SCTID:387637008|ICD9:719.00 owl:Class MONDO:0013905 biolink:NamedThing autosomal recessive spinocerebellar ataxia 13 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 13|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive type 13|SCAR13|spinocerebellar ataxia, autosomal recessive 13|GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive spinocerebellar ataxia type 13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency ICD10:G11.1|OMIM:614831|DOID:0080062|UMLS:C3553816|Orphanet:324262|Orphanet:363429 owl:Class HGNC:4593 biolink:NamedThing GRM1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002574 biolink:NamedThing stromal cell of pancreas A stromal cell of the pancreas. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-02T02:40:41Z cell owl:Class MONDO:0100288 biolink:NamedThing enhanced S-cone syndrome An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. tmpte7i6ely_mondo_relaxed.owl retinoschisis with early nyctalopia|enhanced S-cone syndrome|ESCS MESH:C564835|Orphanet:53540|ICD10:H35.5|UMLS:C1849394|OMIM:268100|DOID:0090059 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:7974 biolink:NamedThing NR2E3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032092 biolink:NamedThing positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding. tmpte7i6ely_mondo_relaxed.owl upregulation of protein binding|up-regulation of protein binding|activation of protein binding|stimulation of protein binding|up regulation of protein binding owl:Class CHEBI:53212 biolink:NamedThing isocyanates Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O (as opposed to the cyanate group, -O-C#N). tmpte7i6ely_mondo_relaxed.owl iso-cyanates owl:Class UBERON:0016405 biolink:NamedThing pulmonary capillary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030700 biolink:NamedThing autoimmune glomerulonephritis An autoimmune form of glomerulonephritis (disease). tmpte7i6ely_mondo_relaxed.owl autoimmune glomerulonephritis (disease) DOID:0040094 owl:Class MONDO:0013714 biolink:NamedThing mannose-binding lectin deficiency tmpte7i6ely_mondo_relaxed.owl mannose-binding protein deficiency|MBL deficiency|MBLD|lectin complement activation pathway, defect in, 1|MBP deficiency|MBL2 deficiency|mannose-binding lectin deficiency MESH:C563602|ICD9:279.19|OMIM:614372|UMLS:C3280586|SCTID:703538003 owl:Class HGNC:6922 biolink:NamedThing MBL2 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000137 biolink:NamedThing 43-year-old human stage Adult stage that refers to an adult who is over 43 and under 44. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002027 biolink:NamedThing stratum corneum of epidermis tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001577 biolink:NamedThing tonsil squamous cell Squamous cell of tonsil epithelium. tmpte7i6ely_mondo_relaxed.owl tonsil squamous epithelial cells|tonsillar squamous epithelial cell|tonsillar squamous cell|tonsil squamous epithelial cell CALOHA:TS-1253 owl:Class HP:0002870 biolink:NamedThing Obstructive sleep apnea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. tmpte7i6ely_mondo_relaxed.owl Obstructive sleep apnoea MSH:D020181|SNOMEDCT_US:78275009|UMLS:C0520679 human_phenotype owl:Class MONDO:0003631 biolink:NamedThing cervical serous adenocarcinoma A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen. tmpte7i6ely_mondo_relaxed.owl cervical serous adenocarcinoma DOID:5752|NCIT:C40201|UMLS:C1516431 owl:Class MONDO:0015000 biolink:NamedThing developmental and epileptic encephalopathy, 48 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 48|EIEE48|epileptic encephalopathy, early infantile, 48; EIEE48|early infantile epileptic encephalopathy caused by mutation in AP3B2|epileptic encephalopathy, early infantile, 48|DEE48|AP3B2 early infantile epileptic encephalopathy UMLS:C4310637|OMIM:617276|DOID:0080448 owl:Class HGNC:567 biolink:NamedThing AP3B2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003849 biolink:NamedThing clivus chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. tmpte7i6ely_mondo_relaxed.owl clivus of occipital bone chordoma (disease)|chordoma of the clivus|chordoma (disease) of clivus of occipital bone|clival chordoma|chordoma of clivus NCIT:C5412|ICD9:170.0|UMLS:C1333071|DOID:6312|SCTID:446939001 owl:Class GO:0051955 biolink:NamedThing regulation of amino acid transport Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017391 biolink:NamedThing Grayson-Wilbrandt corneal dystrophy Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. tmpte7i6ely_mondo_relaxed.owl GWCD Orphanet:293375|SCTID:717286002|ICD10:H18.5 owl:Class UBERON:0004370 biolink:NamedThing anterior limiting lamina of cornea tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001086 biolink:NamedThing formation of a solid aerosol in an atmosphere A process during which an aerosol, consisting of solid particulates suspended in a gas, is formed in an atmosphere. tmpte7i6ely_mondo_relaxed.owl formation of solid particles in an atmosphere owl:Class UBERON:0001814 biolink:NamedThing brachial nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411041 biolink:NamedThing chemical food component Any chemical or chemical mixture that exists in a food material or was added to a food material. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011861 biolink:NamedThing aorta collagen fibril tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903282 biolink:NamedThing regulation of glutathione peroxidase activity Any process that modulates the frequency, rate or extent of glutathione peroxidase activity. tmpte7i6ely_mondo_relaxed.owl regulation of non-selenium glutathione peroxidase activity|regulation of selenium-glutathione peroxidase activity|regulation of GSH peroxidase activity|regulation of glutathione:hydrogen-peroxide oxidoreductase activity|regulation of reduced glutathione peroxidase activity owl:Class GO:0004602 biolink:NamedThing glutathione peroxidase activity Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. tmpte7i6ely_mondo_relaxed.owl GSH peroxidase activity|reduced glutathione peroxidase activity|selenium-glutathione peroxidase activity|non-selenium glutathione peroxidase activity|glutathione:hydrogen-peroxide oxidoreductase activity owl:Class UBERON:0003495 biolink:NamedThing respiratory system arteriole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014059 biolink:NamedThing microphthalmia, isolated, with coloboma 9 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene. tmpte7i6ely_mondo_relaxed.owl MCOPCB9|microphthalmia, isolated, with coloboma 9|TENM3 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma caused by mutation in TENM3|microphthalmia, isolated, with coloboma type 9 Orphanet:98938|UMLS:C3554592|OMIM:615145 owl:Class HGNC:29944 biolink:NamedThing TENM3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019624 biolink:NamedThing acquired angioedema Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. tmpte7i6ely_mondo_relaxed.owl angioedema, acquired|acquired C1 inhibitor deficiency|acquired bradykinine-induced angioedema|acquired angioneurotic edema|acquired angioedema|acquired non histamine-induced angioedema|AAE OMIM:300909|MESH:C538173|ICD10:T78.3|GARD:0008605|UMLS:C2931758|Orphanet:91385 https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema owl:Class ECTO:9002059 biolink:NamedThing exposure to food packaging gas An exposure to food packaging gas. tmpte7i6ely_mondo_relaxed.owl exposure to food packaging gas owl:Class UBERON:0005184 biolink:NamedThing hair medulla tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:16705 biolink:NamedThing 6-aminopenicillanic acid A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics. tmpte7i6ely_mondo_relaxed.owl 6-Aminopenicillamine acid|(+)-6-aminopenicillanic acid|Phenacyl 6-aminopenicillinate|Aminopenicillanic acid|6-Apa|Penin|6-amino-2,2-dimethylpenam-3alpha-carboxylic acid|(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|6-Aps|6-APA|6-Aminopenicillanate|6beta-aminopenicillanic acid|Penicin|6-Aminopenicillanic acid owl:Class HGNC:6120 biolink:NamedThing IRF5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012467 biolink:NamedThing enclosed anatomical space tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000608 biolink:NamedThing closed A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view. tmpte7i6ely_mondo_relaxed.owl blocked owl:Class MONDO:0013463 biolink:NamedThing dextro-looped transposition of the great arteries 3 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene. tmpte7i6ely_mondo_relaxed.owl CHTD6|transposition of the great arteries, dextro-looped 3, formerly|congenital heart defects, multiple types, 6|DTGA3|transposition of the great arteries, dextro-looped 3|GDF1 dextro-looped transposition of the great arteries|transposition of the great arteries, dextro-looped type 3|dextro-looped transposition of the great arteries type 3|dextro-looped transposition of the great arteries caused by mutation in GDF1 UMLS:C3151221|DOID:0060772|ICD10:Q20.3|OMIM:613854|Orphanet:860 owl:Class HGNC:4214 biolink:NamedThing GDF1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003346 biolink:NamedThing mucosa of rectum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002379 biolink:NamedThing cystic teratoma tmpte7i6ely_mondo_relaxed.owl cystic teratoma UMLS:C1368903|NCIT:C9014|DOID:2660 owl:Class PATO:0001673 biolink:NamedThing cystic Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. tmpte7i6ely_mondo_relaxed.owl cysts owl:Class HGNC:30220 biolink:NamedThing RFT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010696 biolink:NamedThing skeleton of pedal acropodium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:139 biolink:NamedThing Borreliella burgdorferi tmpte7i6ely_mondo_relaxed.owl Lyme disease spirochete|Borrelia burgdorferi PMID:7699027|PMID:8995796|PMID:1503971|GC_ID:11|PMID:9336916|PMID:7981102|PMID:1380285|PMID:24744012 ncbi_taxonomy owl:Class GO:0045823 biolink:NamedThing positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction. tmpte7i6ely_mondo_relaxed.owl up-regulation of heart contraction|activation of heart contraction|up regulation of heart contraction|stimulation of heart contraction|upregulation of heart contraction|positive regulation of cardiac contraction owl:Class OBO:MF_0000032 biolink:NamedThing bodily disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003577 biolink:NamedThing knee connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002312 biolink:NamedThing B cell activation involved in immune response The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpte7i6ely_mondo_relaxed.owl B-cell activation during immune response|B-lymphocyte activation during immune response|B cell activation during immune response|B lymphocyte activation during immune response owl:Class ECTO:0001571 biolink:NamedThing exposure to mercury An exposure to mercury molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to mercury molecular entity owl:Class HsapDv:0000084 biolink:NamedThing 2-5 year-old child stage Child stage that refers to a child who is over 24 months and under 6 years old. tmpte7i6ely_mondo_relaxed.owl preschool child owl:Class MONDO:0001462 biolink:NamedThing descending colon cancer A malignant neoplasm involving the descending colon. tmpte7i6ely_mondo_relaxed.owl cancer of descending colon|malignant descending colon neoplasm|malignant neoplasm of left colon|malignant tumor of descending colon|malignant neoplasm of descending colon|Ca descending colon|descending colon cancer ICD9:153.2|UMLS:C0153435|DOID:12190|ICD10:C18.6|SCTID:363409003 owl:Class MONDO:0001027 biolink:NamedThing gonococcal seminal vesiculitis A gonorrhea that involves the seminal vesicle. tmpte7i6ely_mondo_relaxed.owl seminal vesicle gonorrhea|gonococcal seminal vesiculitis (acute)|gonorrhea of seminal vesicle DOID:10400|SCTID:301990003|UMLS:C0578661 owl:Class MONDO:0010315 biolink:NamedThing T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. tmpte7i6ely_mondo_relaxed.owl X-linked severe combined immunodeficiency|severe combined immunodeficiency, X-linked|X-linked SCID|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|SCIDX1|severe combined immunodeficiency T- B+, X-linked|XSCID|severe combined immunodeficiency T- B+ due to gamma chain deficiency|immunodeficiency 4|T-B+ SCID due to gamma chain deficiency|SCIDX|SCID, X-linked|T-B+ severe combined immunodeficiency, X-linked|thymic epithelial hypoplasia|SCID-X1|X-SCID|T-B+ severe combined immunodeficiency due to gamma chain deficiency GARD:0005618|ICD10:D81.2|EFO:0005555|Orphanet:276|DOID:0060013|NCIT:C4682|OMIM:300400|SCTID:203592006 owl:Class HP:0004430 biolink:NamedThing Severe combined immunodeficiency A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. tmpte7i6ely_mondo_relaxed.owl Immunodeficiency, severe combined UMLS:C0085110|MSH:D016511|SNOMEDCT_US:31323000 peter 2008-03-18T09:46:00Z human_phenotype owl:Class UBERON:0010986 biolink:NamedThing serratus ventralis pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010963 biolink:NamedThing trunk and cervical myotome group tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010016 biolink:NamedThing sclerosteosis 1 Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene. tmpte7i6ely_mondo_relaxed.owl cortical hyperostosis with syndactyly|sclerosteosis type 1|sclerosteosis 1|sclerosteosis caused by mutation in SOST|SOST|SOST1|SOST sclerosteosis OMIM:269500|DOID:0060756|UMLS:CN032489|Orphanet:3152|UMLS:C0265301|ICD10:M85.2 owl:Class CL:1000275 biolink:NamedThing smooth muscle cell of small intestine A smooth muscle cell that is part of the small intestine. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of small intestine FMA:15050 cell owl:Class OBO:CHR_9606-chrXq27.2 biolink:NamedThing Xq27.2 (Human) tmpte7i6ely_mondo_relaxed.owl 143000000 141200000 hg38 owl:Class MONDO:0012610 biolink:NamedThing inflammatory bowel disease 10 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene. tmpte7i6ely_mondo_relaxed.owl ATG16L1 inflammatory bowel disease|inflammatory bowel disease caused by mutation in ATG16L1|inflammatory bowel disease type 10|inflammatory bowel disease 10|IBD10|inflammatory bowel disease (Crohn disease) 10 UMLS:C1970207|DOID:0110885|MESH:C567021|OMIM:611081 owl:Class HGNC:21498 biolink:NamedThing ATG16L1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013440 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. tmpte7i6ely_mondo_relaxed.owl LGMD2P|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|limb-girdle muscular dystrophy type 2P|DAG1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy, limb-girdle, type 2P|MDDGC9 Orphanet:280333|GARD:0012541|ICD10:G71.0|OMIM:613818|DOID:0110293|UMLS:C3151184 owl:Class HGNC:2666 biolink:NamedThing DAG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011451 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene. tmpte7i6ely_mondo_relaxed.owl SCO2 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1|CEMCOX1|cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy|fatal infantile encephalocardiomyopathy caused by mutation in SCO2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 OMIM:604377|DOID:0080357|Orphanet:1561 owl:Class ENVO:00010504 biolink:NamedThing surface layer A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001969 biolink:NamedThing blood plasma tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010984 biolink:NamedThing regulation of lipoprotein particle clearance Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000093 biolink:NamedThing Schistosoma mansoni infection, susceptibility tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044345 biolink:NamedThing Schistosoma mansoni infectious disease An infection that is caused by Schistosoma mansoni. tmpte7i6ely_mondo_relaxed.owl Schistosoma mansoni infection|Schistosoma mansoni caused disease or disorder|Schistosoma mansoni disease or disorder SCTID:750009|NCIT:C35002|MESH:D012555 owl:Class UBERON:0001095 biolink:NamedThing caudal vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018177 biolink:NamedThing glioblastoma The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl glioblastoma multiforme|grade IV astrocytic tumor|grade IV astrocytoma|WHO grade IV glioma|glioblastoma (disease)|spongioblastoma multiforme|grade IV adult astrocytic tumor|primary glioblastoma multiforme|giant cell glioblastoma (histologic variant)|GBM|GBM (glioblastoma)|gliosarcoma (histologic variant)|glioblastoma multiforme (disease)|glioblastoma|grade IV astrocytic neoplasm glioblastoma (disease) UMLS:C0017636|ICDO:9440/3|HP:0012174|MedDRA:10018337|UMLS:CN227279|OMIM:613029|DOID:3068|NCIT:C3058|ICD10:C71.9|Orphanet:360|ONCOTREE:GB|OMIM:137800|HP:0100843|MedDRA:10018336|ONCOTREE:GBM|UMLS:C1621958|GARD:0002491|SCTID:393563007 owl:Class MONDO:0024494 biolink:NamedThing tumor grade 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. tmpte7i6ely_mondo_relaxed.owl undifferentiated|grade IV|high grade|G4|grade 4 NCIT:C28082 owl:Class MONDO:0021673 biolink:NamedThing post-bacterial disorder tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19p1 biolink:NamedThing 19p1 (Human) tmpte7i6ely_mondo_relaxed.owl 26200000 0 hg38 owl:Class UBERON:0001749 biolink:NamedThing parenchyma of parathyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:09000016 biolink:NamedThing concentration of nitrogen atom in environmental material The concentration of a nitrogen atom when measured in environmental material. tmpte7i6ely_mondo_relaxed.owl environmental material nitrogen atom concentration owl:Class Nece2c324a6b3484ca8860a60370f1012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0003281 biolink:NamedThing mesentery of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020799 biolink:NamedThing basal cell neoplasm A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. tmpte7i6ely_mondo_relaxed.owl basal cell tumor|neoplasm, basal cell MESH:D018295|ICDO:8090/1|SCTID:127570002|NCIT:C3784 owl:Class MONDO:0008861 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 1 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. tmpte7i6ely_mondo_relaxed.owl 3 Methylcrotonyl-CoA carboxylase deficiency|3 Alpha methylcrotonylglycinuria 1|Mccd type 1|MCC 1 deficiency|3-methylcrotonyl-CoA carboxylase 1 deficiency|3 methylcrotonylglycinuria|methylcrotonoyl-CoA carboxylase 1 deficiency|deficiency of methylcrotonoyl-Coa carboxylase|methylcrotonylglycinuria type 1|MCC1D|3-METHYLCROTONYL-CoA carboxylase 1 deficiency|3-methylcrotonylglycinuria I|3-MCC deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|3-methylcrotonylglycinuria 1|MCCD type 1|Mcc1 deficiency|MCC deficiency|3-Methylcrotonyl-Coa carboxylase deficiency|3 alpha methylcrotonylglycinuria 1|3-methylcrotonylglycinuria|methylcrotonylglycinuria type I|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|Bmcc deficiency|3-Methylcrotonyl-Coa carboxylase 1 deficiency|3 Methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-Coa carboxylase deficiency|MCC1 deficiency|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308|OMIM:210200|UMLS:C0268600|UMLS:CN028786|GARD:0005665|DOID:0080579|Orphanet:6 MONDO:0022326 https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency owl:Class HGNC:6936 biolink:NamedThing MCCC1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000640 biolink:NamedThing planetary mantle A planetary mantle is a planetary layer which is an interior part of a terrestrial planet or other rocky body large enough to have differentiation by density. tmpte7i6ely_mondo_relaxed.owl mantle owl:Class ENVO:01000638 biolink:NamedThing planetary crust A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle. tmpte7i6ely_mondo_relaxed.owl crust owl:Class MONDO:0007191 biolink:NamedThing Behcet disease A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. tmpte7i6ely_mondo_relaxed.owl Behcet syndrome|Behcet's syndrome|Behcet disease|Behcet's disease|Adamantiades-Behcet disease|Behet's syndrome|Behçet disease|Behçet's disease|Behçet-Adamantiades syndrome|BD|Behçet’s disease|Behçet syndrome|triple symptom complex|Morbus Behçet's syndrome|Behçet's syndrome|silk road disease|Bechet syndrome Orphanet:117|DOID:13241|ICD10:M35.2|SCTID:310701003|OMIM:109650|NCIT:C34416|GARD:0000848|MESH:D001528|ICD9:136.1|UMLS:C0004943|MedDRA:10004213|EFO:0003780 owl:Class HP:0000554 biolink:NamedThing Uveitis Inflammation of one or all portions of the uveal tract. tmpte7i6ely_mondo_relaxed.owl UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001 The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. human_phenotype owl:Class NCBITaxon:810 biolink:NamedThing Chlamydia tmpte7i6ely_mondo_relaxed.owl Chlamydophila|Bedsonia|Rakeia|Miyagawanella|Rickettsiaformis|"Prowazekia" Coles 1953 PMID:21048221|PMID:25618261|PMID:10319462|PMID:23620152|PMID:9103632|PMID:9103637|PMID:21048222|GC_ID:11|PMID:11211265 NCBITaxon:83553 ncbi_taxonomy owl:Class UBERON:0003952 biolink:NamedThing anterior stroma of cornea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010192 biolink:NamedThing Waardenburg syndrome type 4A A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome type 4A|Waardenburg syndrome caused by mutation in EDNRB|Ws4|Waardenburg syndrome with Hirschsprung disease type 4A|Waardenburg-Shah syndrome|WS4A|Waardenburg syndrome, type 4A|Waardenburg syndrome with Hirschsprung disease, type 4A|Shah-Waardenburg syndrome|EDNRB Waardenburg syndrome|Waardenburg syndrome type IVA OMIM:277580|Orphanet:897|DOID:0110953 owl:Class GO:1904319 biolink:NamedThing negative regulation of smooth muscle contraction involved in micturition Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpte7i6ely_mondo_relaxed.owl inhibition of smooth muscle contraction involved in micturition|inhibition of urinary bladder smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in urination|down-regulation of smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in urination|down regulation of smooth muscle contraction involved in urination|down regulation of urinary bladder smooth muscle contraction involved in micturition|downregulation of smooth muscle contraction involved in urination|negative regulation of smooth muscle contraction involved in urination|downregulation of urinary bladder smooth muscle contraction involved in micturition|negative regulation of urinary bladder smooth muscle contraction involved in micturition|downregulation of smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in micturition|down-regulation of urinary bladder smooth muscle contraction involved in micturition owl:Class GO:0060083 biolink:NamedThing smooth muscle contraction involved in micturition The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body. tmpte7i6ely_mondo_relaxed.owl urinary bladder smooth muscle contraction involved in micturition|smooth muscle contraction involved in urination owl:Class MONDO:0003931 biolink:NamedThing childhood optic tract astrocytoma An astrocytoma that arises from the visual pathway and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood optic tract astrocytoma|pediatric visual pathway astrocytoma|pediatric optic tract astrocytoma|childhood visual pathway astrocytoma|optic tract astrocytoma of childhood DOID:6575|UMLS:C1333014|NCIT:C7534 owl:Class ENVO:01001814 biolink:NamedThing organic object An object which is formed as a result of one or more biological processes and is composed primarily of organic material. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000155 biolink:NamedThing organic material Environmental material derived from living organisms and composed primarily of one or more biomacromolecules. tmpte7i6ely_mondo_relaxed.owl biomass owl:Class ENVO:01000266 biolink:NamedThing water vapour Water vapour is a vapour which is the gas phase of water. tmpte7i6ely_mondo_relaxed.owl aqueous vapor|aqueous vapour|water vapor owl:Class UBERON:0008824 biolink:NamedThing duct of epididymis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043693 biolink:NamedThing alcoholic liver diseases A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. tmpte7i6ely_mondo_relaxed.owl alcoholic liver disease|alcoholic liver damage|liver disease, alcoholic|alcoholic liver diseases SCTID:41309000|NCIT:C34783|EFO:0008573|MESH:D008108 owl:Class MONDO:0002188 biolink:NamedThing vulvar nodular hidradenoma A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. tmpte7i6ely_mondo_relaxed.owl nodular hidradenoma of mammalian vulva|vulvar nodular hidradenoma|mammalian vulva nodular hidradenoma DOID:2060|UMLS:C1520091|NCIT:C40312 owl:Class MONDO:0014175 biolink:NamedThing mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)|mitochondrial DNA depletion syndrome type 12|mitochondrial DNA depletion syndrome 12|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR|MTDPS12B|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|MTDPS12 NCIT:C129977|UMLS:C4321247|Orphanet:1369|DOID:0080130|OMIM:615418|DOID:0080335 owl:Class UBERON:0035322 biolink:NamedThing right common iliac artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035051 biolink:NamedThing cardiocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. tmpte7i6ely_mondo_relaxed.owl heart cell differentiation|cardiac cell differentiation owl:Class MONDO:0014593 biolink:NamedThing developmental and epileptic encephalopathy, 29 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 29|EIEE29|DEE29|AARS early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 29|early infantile epileptic encephalopathy caused by mutation in AARS OMIM:616339|DOID:0080451|UMLS:C4225361 owl:Class HGNC:20 biolink:NamedThing AARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014991 biolink:NamedThing Seckel syndrome 10 Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. tmpte7i6ely_mondo_relaxed.owl SCKL10|Seckel syndrome caused by mutation in NSMCE2|NSMCE2 Seckel syndrome|Seckel syndrome 10|Seckel syndrome type 10 DOID:0070008|OMIM:617253|UMLS:C4310647 owl:Class HGNC:26513 biolink:NamedThing NSMCE2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001868 biolink:NamedThing skin of chest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016595 biolink:NamedThing inhalational anthrax A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. tmpte7i6ely_mondo_relaxed.owl respiratory anthrax|inhalation anthrax|inhalation anthrax disease|wool-sorters' disease|woolsorters' disease|pulmonary anthrax|respiratory anthrax disease Orphanet:247257|MESH:C571912|SCTID:11389007|MedDRA:10035667|ICD10:A22.1|ICD9:022.1|DOID:0050160|UMLS:C0155866 owl:Class OBO:CHR_9606-chr14q22-q23 biolink:NamedThing 14q22-q23 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0000231 biolink:NamedThing Far eastern spotted fever tmpte7i6ely_mondo_relaxed.owl Rickettsia heilongjiangensis spotted fever DOID:0050046|UMLS:C3532354|SCTID:472822008 owl:Class NCBITaxon:523089 biolink:NamedThing Haemaphysalis concinna tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008705 biolink:NamedThing lysosomal acid phosphatase deficiency tmpte7i6ely_mondo_relaxed.owl lysosomal acid phosphatase deficiency|acid phosphatase deficiency ICD9:277.6|UMLS:C0268410|MESH:C562645|Orphanet:35121|OMIM:200950|ICD10:E83.3|SCTID:57863006 owl:Class HGNC:123 biolink:NamedThing ACP2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140631 biolink:NamedThing aldehyde dehydrogenase (NAD+) inhibitor activity Binds to and stops, prevents or reduces the activity of aldehyde dehydrogenase (NAD+). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004029 biolink:NamedThing aldehyde dehydrogenase (NAD+) activity Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+. tmpte7i6ely_mondo_relaxed.owl NAD-linked aldehyde dehydrogenase activity|NAD-dependent aldehyde dehydrogenase activity|NAD-aldehyde dehydrogenase activity|NAD-dependent 4-hydroxynonenal dehydrogenase activity|aldehyde:NAD+ oxidoreductase activity|aldehyde dehydrogenase (NAD+)|CoA-independent aldehyde dehydrogenase activity|propionaldehyde dehydrogenase activity|m-methylbenzaldehyde dehydrogenase activity owl:Class MONDO:0010317 biolink:NamedThing intellectual disability, X-linked, with or without seizures, arx-related tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 33|intellectual disability, X-linked, with or without seizures, arx-RELATED|intellectual disability, X-linked 29|intellectual disability, X-linked 52|MRX52|mental retardation, X-linked, with or without seizures, arx-RELATED|intellectual disability, X-linked 76|mental retardation, X-linked 54|MRXARX|intellectual disability, X-linked 54|mental retardation, X-linked, with or without seizures, arx-related|mental retardation, X-linked 87|intellectual disability, X-linked, with or without seizures, ARX-related|mental retardation, X-linked 38|mental retardation, X-linked 29|mental retardation, X-linked 52|intellectual disability, X-linked 38|intellectual disability, X-linked 32|intellectual disability, X-linked 43|intellectual disability, X-linked 87|mental retardation, X-linked 43|ARX-related intellectual disability|intellectual disability, X-linked 33|mental retardation, X-linked 76|mental retardation, X-linked 32 OMIM:300419|Orphanet:777|UMLS:C1845298|MESH:C563150|UMLS:C0796244|MESH:C564502|GARD:0005614 owl:Class HGNC:18060 biolink:NamedThing ARX tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002027 biolink:NamedThing CD9-positive, CD41-positive megakaryocyte cell A megakaryocyte cell with is CD9-positive and CD41-positive. tmpte7i6ely_mondo_relaxed.owl Markers are commonly associated with mouse cells. tmeehan 2010-04-27T10:39:07Z cell owl:Class UBERON:0010535 biolink:NamedThing primitive metanephric nephron tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005113 biolink:NamedThing metanephric cortex mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007042 biolink:NamedThing Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. tmpte7i6ely_mondo_relaxed.owl acrocephalo-syndactyly, type 3|ACS3|blepharophimosis, epicanthus inversus, and ptosis 3, formerly|acrocephalosyndactyly type III|acrocephalosyndactyly type 3|type III Acrocephalosyndactyly|Chotzen syndrome|blepharophimosis, epicanthus inversus, and ptosis 3|acrocephalosyndactyly, type 3|Saethre-Chotzen syndrome with eyelid anomalies|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|acrocephaly, skull asymmetry, and mild syndactyly|ACS 3|SCS|Saethre-Chotzen syndrome SCTID:83015004|DOID:14768|UMLS:C0175699|MESH:D000168|Orphanet:794|GARD:0007598|NCIT:C75034|ICD10:Q87.0|OMIM:101400|EFO:0007029 https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome owl:Class GO:0002644 biolink:NamedThing negative regulation of tolerance induction Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction. tmpte7i6ely_mondo_relaxed.owl down-regulation of tolerance induction|downregulation of tolerance induction|down regulation of tolerance induction|inhibition of tolerance induction owl:Class GO:0002507 biolink:NamedThing tolerance induction A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010851 biolink:NamedThing fibula cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009719 biolink:NamedThing familial atrial myxoma tmpte7i6ely_mondo_relaxed.owl MYXOMA, intracardiac|atrial Myxoma, familial|intracardiac myxoma ICD10:D15.1|SCTID:233855002|MESH:C538262|UMLS:C1850635|GARD:0000139|Orphanet:615|OMIM:255960 https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial owl:Class MONDO:0011928 biolink:NamedThing caudal duplication Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. tmpte7i6ely_mondo_relaxed.owl caudal DUPLICATION anomaly|dipygus|split notochord syndrome Orphanet:1756|SCTID:71464000|MESH:C564315|ICD10:Q87.8|OMIM:607864|GARD:0001164|UMLS:C1842884 https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication owl:Class UBERON:0004238 biolink:NamedThing spleen smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011233 biolink:NamedThing synovial membrane of synovial tendon sheath tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002457 biolink:NamedThing epidermal Langerhans cell A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-11-22T03:57:57Z cell owl:Class UBERON:0003388 biolink:NamedThing mesothelium of pericardial cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007190 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, type 2|Clls2|leukemia, chronic lymphocytic, susceptibility to, 2|B-cell malignancy, low-grade|leukemia, chronic lymphocytic, B-cell|disrupted in B-cell malignancy OMIM:109543|Orphanet:67038 owl:Class UBERON:0006671 biolink:NamedThing orbital fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011896 biolink:NamedThing Parkinson disease 11, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene. tmpte7i6ely_mondo_relaxed.owl hereditary late onset Parkinson disease caused by mutation in GIGYF2|Parkinson disease 11, autosomal dominant, susceptibility to|PARK11|GIGYF2 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 11 Orphanet:411602|UMLS:C1843211|MESH:C564345|OMIM:607688 owl:Class HGNC:11960 biolink:NamedThing GIGYF2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035841 biolink:NamedThing esophagogastric junction muscularis propria tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003926 biolink:NamedThing neurilemmoma of the pleura A schwannoma that involves the pleura. tmpte7i6ely_mondo_relaxed.owl schwannoma of the pleura|pleura schwannoma|pleural schwannoma|schwannoma of pleura|pleural neurilemmoma|neurilemmoma of pleura NCIT:C5418|DOID:6564|UMLS:C1335435 owl:Class MONDO:0012255 biolink:NamedThing chromosome 18 pericentric inversion tmpte7i6ely_mondo_relaxed.owl chromosome 18 pericentric inversion UMLS:C1836305|MESH:C563734|OMIM:609334 owl:Class MONDO:0022177 biolink:NamedThing chromosome 13q trisomy tmpte7i6ely_mondo_relaxed.owl trisomy 13q|Duplication 13q UMLS:C0795849|MESH:C535485 owl:Class MONDO:0008980 biolink:NamedThing ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. tmpte7i6ely_mondo_relaxed.owl BNHS|Boucher-Neuhauser syndrome|ataxia - hypogonadism - choroidal dystrophy|Boucher-Neuhäuser syndrome|Boucher-Neuhchäuser syndrome|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy Orphanet:1180|MESH:C565850|UMLS:C1859093|GARD:0000944|ICD10:G11.8|OMIM:215470|SCTID:715984007|DOID:0111265 owl:Class HGNC:16268 biolink:NamedThing PNPLA6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034022 biolink:NamedThing Bethlem myopathy 2 tmpte7i6ely_mondo_relaxed.owl COL12A1 Bethlem myopathy|BTHLM2|Bethlem myopathy 2|Bethlem myopathy caused by mutation in COL12A1|Ehlers-Danlos syndrome, myopathic type|myopathic EDS|Bethlem myopathy type 2|myopathic Ehlers-Danlos syndrome|EDS, myopathic type Orphanet:610|UMLS:C4225313|Orphanet:536516|OMIM:616471 owl:Class OBO:CHR_9606-chr1p21 biolink:NamedThing 1p21 (Human) tmpte7i6ely_mondo_relaxed.owl 106700000 94300000 hg38 owl:Class MONDO:0015315 biolink:NamedThing neonatal brainstem dysfunction Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. tmpte7i6ely_mondo_relaxed.owl UMLS:CN199283|Orphanet:137929 owl:Class GO:0004563 biolink:NamedThing beta-N-acetylhexosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. tmpte7i6ely_mondo_relaxed.owl beta-acetylaminodeoxyhexosidase activity|N-acetylhexosaminidase activity|beta-D-N-acetylhexosaminidase activity|beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity|beta-hexosaminidase activity|N-acetyl-beta-glucosaminidase activity|beta-N-acetyl-D-hexosaminidase activity|beta-D-hexosaminidase activity|N-acetyl-beta-hexosaminidase activity|hexosaminidase A|N-acetyl-beta-D-hexosaminidase activity|beta-acetylhexosaminidinase activity owl:Class GO:0008289 biolink:NamedThing lipid binding Binding to a lipid. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000586 biolink:NamedThing germ cell The reproductive cell in multicellular organisms. tmpte7i6ely_mondo_relaxed.owl WBbt:0006796|BTO:0000535|VHOG:0001534 cell owl:Class GO:0048609 biolink:NamedThing multicellular organismal reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. tmpte7i6ely_mondo_relaxed.owl organismal reproductive process|reproductive process in a multicellular organism owl:Class MONDO:0008553 biolink:NamedThing platelet-type bleeding disorder 17 An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function. tmpte7i6ely_mondo_relaxed.owl thrombasthenia-thrombocytopenia, hereditary|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|platelet-type bleeding disorder 17|GFI1B inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 17|hereditary thrombasthenia-thrombocytopenia|bleeding disorder, platelet-type 17|BDPLT17 DOID:0111049|NCIT:C142084|ICD10:D69.1|MESH:D055652|UMLS:C0272302|MESH:C566060|Orphanet:721|OMIM:187900 owl:Class HGNC:4238 biolink:NamedThing GFI1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019480 biolink:NamedThing Langerhans cell sarcoma A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl Langerhans cell sarcoma|LCS|malignant Langerhans cell sarcoma|sarcoma of Langerhans cell EFO:0007336|NCIT:C6921|ONCOTREE:LCS|ICDO:9756/3|DOID:7146|SCTID:724649000|ICD10:C96.4|Orphanet:86897|MESH:D054752|UMLS:C1260327|GARD:0010491 https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma owl:Class UBERON:0002293 biolink:NamedThing costochondral joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002236 biolink:NamedThing costal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013073 biolink:NamedThing palmoplantar keratoderma, nonepidermolytic, focal 1 Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. tmpte7i6ely_mondo_relaxed.owl KRT16 nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal type 1|keratoderma, focal nonepidermolytic palmoplantar|Ppkfne|FNEPPK1|palmoplantar keratoderma, nonepidermolytic, focal 1|focal nonepidermolytic palmoplantar keratoderma|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16 OMIM:613000|DOID:0111709 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class HGNC:6423 biolink:NamedThing KRT16 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001020 biolink:NamedThing nervous system commissure tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045653 biolink:NamedThing negative regulation of megakaryocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. tmpte7i6ely_mondo_relaxed.owl downregulation of megakaryocyte differentiation|down-regulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation|down regulation of megakaryocyte differentiation owl:Class GO:0030219 biolink:NamedThing megakaryocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. tmpte7i6ely_mondo_relaxed.owl megakaryocyte cell differentiation owl:Class MONDO:0007487 biolink:NamedThing dyslexia, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl dyslexia, susceptibility to, 1|dyslexia, susceptibility to, 7|reading disability, specific, 1|Word-blindness, congenital|dyslexia, susceptibility to, 4|DYX1|dyslexia, susceptibility to, type 1|susceptibility to dyslexia 1 OMIM:127700 owl:Class HGNC:21493 biolink:NamedThing DNAAF4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060568 biolink:NamedThing Pilarowski-Bjornsson syndrome tmpte7i6ely_mondo_relaxed.owl PILBOS|developmental delay and speech apraxia with or without seizures|Pilarowski-Bjornsson syndrome UMLS:C4540131|OMIM:617682|Orphanet:529965 owl:Class HGNC:1915 biolink:NamedThing CHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010426 biolink:NamedThing oropharyngeal choana tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020694 biolink:NamedThing salivary gland epithelial myoepithelial carcinoma A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. tmpte7i6ely_mondo_relaxed.owl salivary gland epithelial myoepithelial carcinoma NCIT:C35701 owl:Class MONDO:0017617 biolink:NamedThing acquired adult-onset immunodeficiency A acquired immunodeficiency that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|acquired immunodeficiency of adults|adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|adult onset immunodeficiency syndrome|adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|anti-IFN-gamma autoantibody syndrome|adult acquired immunodeficiency Orphanet:306431|ICD10:D84.8|GARD:0011992 owl:Class CL:0000649 biolink:NamedThing prickle cell A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin. tmpte7i6ely_mondo_relaxed.owl prickle cell of epidermis FMA:69059 CL:0002186 cell owl:Class CHEBI:33859 biolink:NamedThing aromatic carboxylic acid Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring. tmpte7i6ely_mondo_relaxed.owl aromatic carboxylic acids owl:Class CHEBI:91007 biolink:NamedThing aromatic carboxylate A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl an aromatic carboxylate owl:Class MONDO:0008922 biolink:NamedThing Sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. tmpte7i6ely_mondo_relaxed.owl Sengers syndrome|cardiomyopathy and cataract|mitochondrial DNA depletion syndrome 10|congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome|mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)|cardiomyopathic mitochondrial DNA depletion syndrome 10|cataract and cardiomyopathy DOID:0080132|MESH:C538280|Orphanet:1369|GARD:0001142|ICD10:Q87.8|OMIM:615418|OMIM:212350|UMLS:C1859317|SCTID:717812000 https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome owl:Class MONDO:0010325 biolink:NamedThing X-linked intellectual disability, Stocco dos Santos type tmpte7i6ely_mondo_relaxed.owl SDSX|Sdsx|intellectual disability, Stocco dos Santos type|Stocco DOS Santos X-linked mental retardation syndrome|mental retardation, X-linked, Stocco Dos Santos type|Stocco dos Santos syndrome|mental retardation, Stocco dos Santos type|Stocco DOS Santos X-linked intellectual disability syndrome|intellectual disability, X-linked, Stocco Dos Santos type OMIM:300434|Orphanet:85288|GARD:0001133|MESH:C537495|SCTID:718910006|UMLS:C1845530|ICD10:Q87.8 owl:Class HGNC:29215 biolink:NamedThing SHROOM4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013164 biolink:NamedThing beta-ureidopropionase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). tmpte7i6ely_mondo_relaxed.owl BETA-ureidopropionase deficiency|UPB1D|Beta-alanine synthase deficiency|beta-ureidopropionase deficiency UMLS:C1291512|SCTID:124511000|ICD9:277.6|MESH:C563210|Orphanet:65287|OMIM:613161|ICD10:E79.8 owl:Class HGNC:16297 biolink:NamedThing UPB1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17q12 biolink:NamedThing 17q12 (Human) tmpte7i6ely_mondo_relaxed.owl 39800000 33500000 hg38 owl:Class CHEBI:86327 biolink:NamedThing antifungal drug Any antifungal agent used to prevent or treat fungal infections in humans or animals. tmpte7i6ely_mondo_relaxed.owl anti-fungal medications|anti-fungal drugs|anti-fungal medication|pharmaceutical fungicide|antifungal medications|antifungal drugs|pharmaceutical fungicides|anti-fungal drug|antifungal medication owl:Class MONDO:0013670 biolink:NamedThing myopia, high, with cataract and vitreoretinal degeneration tmpte7i6ely_mondo_relaxed.owl myopia, high, with cataract and vitreoretinal degeneration|MCVD UMLS:C3280346|OMIM:614292|Orphanet:98619 owl:Class HGNC:19317 biolink:NamedThing P3H2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011720 biolink:NamedThing spermatogenic failure 3 Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene. tmpte7i6ely_mondo_relaxed.owl SPGF3|azoospermia caused by mutation in SLC26A8|SLC26A8 azoospermia|spermatogenic failure type 3|spermatogenic failure 3 DOID:0070168|UMLS:C1847540|MESH:C564665|OMIM:606766|Orphanet:276234 owl:Class HGNC:14468 biolink:NamedThing SLC26A8 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6259 biolink:NamedThing Baylisascaris procyonis tmpte7i6ely_mondo_relaxed.owl raccoon roundworm GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006224 biolink:NamedThing elbow joint primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003318 biolink:NamedThing mesenchyme of elbow tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021026 biolink:NamedThing genetic epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic epidermal appendage anomaly Orphanet:183447 owl:Class CL:0000084 biolink:NamedThing T cell A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. tmpte7i6ely_mondo_relaxed.owl T lymphocyte|T-lymphocyte|T-cell|mature T cell|immature T cell CALOHA:TS-1001|FMA:62870|VHOG:0001479|BTO:0000782 CL:0000804|CL:0000812 cell owl:Class GO:0045187 biolink:NamedThing regulation of circadian sleep/wake cycle, sleep Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpte7i6ely_mondo_relaxed.owl regulation of sleep owl:Class MONDO:0017930 biolink:NamedThing mixed sclerosing bone dystrophy with extra-skeletal manifestations tmpte7i6ely_mondo_relaxed.owl ICD10:M85.8|Orphanet:324364 owl:Class MONDO:0002829 biolink:NamedThing bartholin gland carcinoma A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma. tmpte7i6ely_mondo_relaxed.owl carcinoma of Bartholin's gland|Bartholin's gland carcinoma|Bartholin gland carcinoma (disease)|major vestibular gland carcinoma|carcinoma of the Bartholin's gland|Bartholin gland cancer|bartholin gland carcinoma|Bartholin's gland cancer|carcinoma of major vestibular gland DOID:60003|NCIT:C9055|DOID:3999|SCTID:276876007|HP:0030419|EFO:1000103|UMLS:C0349561 owl:Class MONDO:0700030 biolink:NamedThing complete trisomy 21 Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0010542 biolink:NamedThing dilated cardiomyopathy 3B Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene. tmpte7i6ely_mondo_relaxed.owl X-linked dilated cardiomyopathy|DMD-related dilated cardiomyopathy|DMD dilated cardiomyopathy|dilated cardiomyopathy 3B|cardiomyopathy, dilated, X-linked|cardiomyopathy, dilated, type 3B|cardiomyopathy, dilated, 3B|dilated cardiomyopathy caused by mutation in DMD|CMD3B|dilated cardiomyopathy type 3B DOID:0060561|ICD10:I42.0|MESH:C580047|ICD9:425.4|UMLS:C3668940|DOID:0110461|OMIM:302045|SCTID:702424003 owl:Class HGNC:2928 biolink:NamedThing DMD tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045165 biolink:NamedThing cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019378 biolink:NamedThing la Crosse encephalitis La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. tmpte7i6ely_mondo_relaxed.owl La Crosse virus infectious encephalitis|California virus encephalitis|Californian encephalitis|Neuroinvasive California encephalitis virus infection|La Crosse virus caused infectious encephalitis|California encephalitis MESH:D004670|UMLS:C0276379|SCTID:61094002|MedDRA:10014584|ICD9:062.5|ICD10:A83.5|DOID:0050118|UMLS:C0014053|Orphanet:83483|GARD:0010925 owl:Class NCBITaxon:11577 biolink:NamedThing La Crosse virus tmpte7i6ely_mondo_relaxed.owl Bunyavirus la crosse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001357 biolink:NamedThing hypochromic anemia Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. tmpte7i6ely_mondo_relaxed.owl anemia hypochromic|hypochromic anemia (disease)|hypochromic anemia hypochromic anemia (disease) HP:0001931|NCIT:C34380|UMLS:C0002884|ICD10:D50|DOID:11759|SCTID:44452003 owl:Class HP:0001931 biolink:NamedThing Hypochromic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. tmpte7i6ely_mondo_relaxed.owl Hypochromic anaemia UMLS:C0002884|MSH:D000747|SNOMEDCT_US:44452003 The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). human_phenotype owl:Class MONDO:0002159 biolink:NamedThing fallopian tube leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl fallopian tube leiomyosarcoma|leiomyosarcoma of fallopian tube NCIT:C40128|DOID:1965|UMLS:C1517116 owl:Class MONDO:0012812 biolink:NamedThing developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition. tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy 4|STXBP1 early infantile epileptic encephalopathy|DEE4|STXBP1-related early-onset encephalopathy|epileptic encephalopathy, early infantile, 4|STXBP1-related encephalopathy|developmental and epileptic encephalopathy, 4|epileptic encephalopathy, early infantile, type 4|EIEE4|early infantile epileptic encephalopathy caused by mutation in STXBP1 OMIM:612164|MESH:C567404|Orphanet:599373|DOID:0080436|SCTID:768666006|UMLS:C2677326|NCIT:C162472|GARD:0012900 https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 owl:Class HGNC:11444 biolink:NamedThing STXBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15901 biolink:NamedThing IFT52 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012080 biolink:NamedThing patella cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012081 biolink:NamedThing patella pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051783 biolink:NamedThing regulation of nuclear division Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035109 biolink:NamedThing plantar nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002653 biolink:NamedThing negative regulation of tolerance induction dependent upon immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpte7i6ely_mondo_relaxed.owl downregulation of tolerance induction dependent upon immune response|down regulation of tolerance induction dependent upon immune response|inhibition of tolerance induction dependent upon immune response|negative regulation of immune response-dependent tolerance induction|down-regulation of tolerance induction dependent upon immune response owl:Class GO:0002461 biolink:NamedThing tolerance induction dependent upon immune response Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. tmpte7i6ely_mondo_relaxed.owl immune response-dependent tolerance induction owl:Class CL:1000979 biolink:NamedThing ureter smooth muscle cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001118 cell owl:Class UBERON:0006855 biolink:NamedThing muscular coat of ureter tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16q2 biolink:NamedThing 16q2 (Human) tmpte7i6ely_mondo_relaxed.owl 90338345 57300000 hg38 owl:Class GO:0090596 biolink:NamedThing sensory organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007423 biolink:NamedThing sensory organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl sense organ development owl:Class MONDO:0007098 biolink:NamedThing ACys amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. tmpte7i6ely_mondo_relaxed.owl cerebral amyloid angiopathy, CST3-related|HCHWA, Icelandic type|CST3-related amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|cystatin amyloidosis|amyloidosis, Cerebroarterial, Icelandic type|CST3-related cerebral amyloid angiopathy|hereditary cerebral hemorrhage with amyloidosis|hereditary cystatin C amyloid angiopathy|amyloidosis VI|cerebral hemorrhage, hereditary, with amyloidosis|amyloidosis 6 Orphanet:85458|OMIM:105150|ICD10:I68.0*|SCTID:703220002|Orphanet:100008|ICD10:E85.4+|ICD9:277.39|ICD9:437.8|DOID:0070027 owl:Class HGNC:2475 biolink:NamedThing CST3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005339 biolink:NamedThing outflow tract pulmonary component tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002819 biolink:NamedThing regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002250 biolink:NamedThing adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). tmpte7i6ely_mondo_relaxed.owl acquired immune response|immune memory response owl:Class CL:0000312 biolink:NamedThing keratinocyte An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. tmpte7i6ely_mondo_relaxed.owl keratinized cell of epidermis|malpighian cell FMA:62879|CALOHA:TS-0500|BTO:0000667 Keratinocytes are reportedly CDw210a-negative, CDw210b-positive, CD281-positive, CD282-positive, CD285-positive, IL22Ra1-positive, Human keratinocytes are reportedly capable of secreting BD-2, BD-3, hCAP-18, CXCL1, CXCL5, CXCL8, elafin, MMP-3, NGAL, PDGF-A, S100A7, S100A8, and S100A9. Transcription factors: STAT3-positive. CL:0002185 cell owl:Class GO:1903792 biolink:NamedThing negative regulation of anion transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transport. tmpte7i6ely_mondo_relaxed.owl down-regulation of anion transport|downregulation of anion transport|inhibition of anion transport|down regulation of anion transport owl:Class GO:0006820 biolink:NamedThing anion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005291 biolink:NamedThing brain aneurysm A congenital or acquired aneurysm within the cranium. tmpte7i6ely_mondo_relaxed.owl intracranial aneurysm|brain aneurysm NCIT:C34458|UMLS:C0007766|EFO:0003870|MESH:D002532|NCIT:C27208|DOID:10941 owl:Class HP:0009830 biolink:NamedThing Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. tmpte7i6ely_mondo_relaxed.owl Peripheral neuritis|Neuropathy|Peripheral nerve damage SNOMEDCT_US:386033004|MSH:D010523|UMLS:C0442874|SNOMEDCT_US:302226006|SNOMEDCT_US:42658009|UMLS:C0031117 Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. peter 2009-03-01T07:49:18Z HP:0003157|HP:0007088|HP:0003407|HP:0007355|HP:0007235 human_phenotype owl:Class CL:0002338 biolink:NamedThing CD56-positive, CD161-positive immature natural killer cell, human A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive. tmpte7i6ely_mondo_relaxed.owl p-NK Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). tmeehan 2010-09-21T10:06:53Z cell owl:Class UBERON:0008951 biolink:NamedThing left lung lobe tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000298 biolink:NamedThing mesothelial cell of dura mater A mesothelial cell that is part of the dura mater. tmpte7i6ely_mondo_relaxed.owl squamous mesothelial cell of dura mater FMA:256516 cell owl:Class UBERON:0004417 biolink:NamedThing proximal epiphysis of phalanx of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050966 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl mechanical nociception|perception of pain, sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during perception of pain|sensory detection of mechanical stimulus during perception of pain|perception of pain, sensory detection of mechanical stimulus|perception of pain, detection of mechanical stimulus owl:Class MONDO:0004446 biolink:NamedThing olfactory groove meningioma A meningioma that affects the olfactory sulcus. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of olfactory sulcus|meningioma of the olfactory groove|meningioma of olfactory groove|olfactory sulcus meningioma (disease) DOID:8057|NCIT:C6771|MESH:D008579|UMLS:C1335107 owl:Class UBERON:0002772 biolink:NamedThing olfactory sulcus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18423 biolink:NamedThing DEPDC5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008535 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 1 tmpte7i6ely_mondo_relaxed.owl Osler Weber Rendu syndrome type 1|HHT|telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER|ORW disease|HHT1|Osler-Rendu-Weber disease|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|telangiectasia, hereditary hemorrhagic, type 1|hereditary hemorrhagic telangiectasia type 1|ENG-related Hereditary hemorrhagic telangiectasia GTR:AN0097748|GTR:AN0097750|UMLS:C0039445|GTR:AN0195329|Orphanet:774|GTR:AN0097757|UMLS:CN034812|OMIM:187300 owl:Class HGNC:3349 biolink:NamedThing ENG tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051174 biolink:NamedThing regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpte7i6ely_mondo_relaxed.owl regulation of phosphorus metabolism owl:Class GO:0006793 biolink:NamedThing phosphorus metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). tmpte7i6ely_mondo_relaxed.owl phosphorus metabolism owl:Class HP:0010976 biolink:NamedThing B lymphocytopenia An abnormal decrease from the normal count of B cells. tmpte7i6ely_mondo_relaxed.owl Decreased B cell count|B cell lymphopenia|Reduction in B cell number|Low B cell count|B cell deficiency UMLS:C1855067 Plasma B cells differentiate from B cells and secrete large amounts of antibodies. peter 2011-02-06T09:44:11Z HP:0002956 human_phenotype owl:Class N0eda9400f5b04ccdb0e0596d1e2e9a43 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016222 biolink:NamedThing spindle cell hemangioma Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis. tmpte7i6ely_mondo_relaxed.owl spindle cell hemangioma|spindle -cell hemangioma|SCh|spindle cell hemangioendothelioma ICD10:D18.0|ICDO:9136/0|ICDO:9136/1|NCIT:C4754|Orphanet:210584|SCTID:403967000|EFO:0002856|DOID:496|UMLS:C1304508 owl:Class CL:0000082 biolink:NamedThing epithelial cell of lung An epithelial cell of the lung. tmpte7i6ely_mondo_relaxed.owl lung epithelial cell BTO:0004299 cell owl:Class MONDO:0010806 biolink:NamedThing retinitis pigmentosa 13 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. tmpte7i6ely_mondo_relaxed.owl RP13|RP 13|retinitis pigmentosa caused by mutation in PRPF8|retinitis pigmentosa type 13|PRPF8 retinitis pigmentosa|retinitis pigmentosa 13 GARD:0010388|ICD10:H35.5|UMLS:C1838702|OMIM:600059|MESH:C564008|DOID:0110403 https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13 owl:Class HGNC:17340 biolink:NamedThing PRPF8 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000998 biolink:NamedThing Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location. tmpte7i6ely_mondo_relaxed.owl Increased hair growth on body|Excessive hair growth SNOMEDCT_US:29966009|SNOMEDCT_US:271607001|MSH:D006983|UMLS:C0020555 human_phenotype owl:Class MONDO:0005665 biolink:NamedThing Bell's palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. tmpte7i6ely_mondo_relaxed.owl facial nerve paralysis|paralysis Of Facial nerve|Bell palsy|Bell's (facial) palsy|facial nerve palsy|palsy of facial nerve|facial palsy|nerve paralysis, Facial ICD10:G51.0|EFO:0007167|UMLS:C0376175|ICD9:351.0|Orphanet:2810|GARD:0005906|DOID:12506|NCIT:C26769|MESH:D020330|SCTID:193093009 owl:Class MONDO:0004482 biolink:NamedThing fibroosseous pseudotumor of the digits A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion. tmpte7i6ely_mondo_relaxed.owl fibroosseous digital pseudotumor|fibroosseous pseudotumor of digits|fibroosseous pseudotumor of the digits UMLS:C1333612|ICD9:215.9|SCTID:403991009|DOID:8153|NCIT:C6573 owl:Class MONDO:0013499 biolink:NamedThing Fanconi anemia complementation group P Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. tmpte7i6ely_mondo_relaxed.owl SLX4 Fanconi anemia|Fanconi anemia, complementation group P|Fanconi anemia caused by mutation in SLX4|Fanconi Anemia, complementation group type P|Slx4 Fanconi anemia|Fanconi anemia caused by mutation in Slx4|Fanconi anemia complementation group type P|FANCP DOID:0111092|OMIM:613951 owl:Class HGNC:23845 biolink:NamedThing SLX4 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p biolink:NamedThing 1p (Human) tmpte7i6ely_mondo_relaxed.owl 123400000 0 hg38 owl:Class UBERON:8400021 biolink:NamedThing liver serosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008471 biolink:NamedThing spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. tmpte7i6ely_mondo_relaxed.owl SEDC|congenital spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|late spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia, congenital type|SED congenita|spondyloepiphyseal dysplasia congenita|Spranger-Wiedemann disease SCTID:278713008|OMIM:183900|ICD10:Q77.7|Orphanet:94068|DOID:14789|GARD:0004987|ICD9:756.9|MedDRA:10062920|MESH:C535788 https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita owl:Class HGNC:2200 biolink:NamedThing COL2A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002465 biolink:NamedThing lymphoid system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002193 biolink:NamedThing hemolymphoid system tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:02500003 biolink:NamedThing atmospheric process A process which occurs within an atmosphere. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001586 biolink:NamedThing internal jugular vein tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:49023 biolink:NamedThing prostaglandin antagonist A compound that inhibits the action of prostaglandins. tmpte7i6ely_mondo_relaxed.owl prostaglandin inhibitor owl:Class ENVO:01001154 biolink:NamedThing volatile astrogeological material A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet. tmpte7i6ely_mondo_relaxed.owl volatile owl:Class N054cbecf2a6a493086a70bac127002b7 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0001514 biolink:NamedThing descending aorta tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005622 biolink:NamedThing right dorsal aorta tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021524 biolink:NamedThing benign neoplasm of buccal mucosa A benign neoplasm that involves the buccal mucosa. tmpte7i6ely_mondo_relaxed.owl benign tumor of the buccal mucosa|buccal mucosa benign neoplasm|benign tumor of buccal mucosa|benign buccal mucosa tumor|benign neoplasm of the buccal mucosa|benign buccal mucosa neoplasm UMLS:C0345566|SCTID:92039003|NCIT:C4406|ICD9:210.4 owl:Class UBERON:0006956 biolink:NamedThing buccal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014156 biolink:NamedThing atrial fibrillation, familial, 14 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, type 14|familial atrial fibrillation caused by mutation in SCN2B|SCN2B familial atrial fibrillation|atrial fibrillation, familial, 14|ATFB14 OMIM:615378|Orphanet:334|UMLS:C3809312 owl:Class HGNC:10589 biolink:NamedThing SCN2B tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000349 biolink:NamedThing extraembryonic cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0011021 biolink:NamedThing fibroblast of upper back skin A fibroblast that is part of upper back skin. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009031 biolink:NamedThing craniodiaphyseal dysplasia Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. tmpte7i6ely_mondo_relaxed.owl craniodiaphyseal dysplasia|CDD|Lionitis NCIT:C131429|ICD9:756.59|UMLS:C0410539|GARD:0001567|OMIM:218300|ICD10:M85.2|DOID:0080032|MESH:C562940|OMIM:122860|SCTID:205506004|Orphanet:1513 https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia owl:Class MONDO:0009723 biolink:NamedThing Leigh syndrome A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. tmpte7i6ely_mondo_relaxed.owl Leigh syndrome|infantile necrotizing encephalomyelopathy|Leigh's disease|juvenile subacute necrotizing encephalomyelopathy|infantile subacute necrotizing encephalopathy|subacute necrotizing encephalomyelopathy|Leigh syndrome due to mitochondrial Complex 3 deficiency|Leigh syndrome due to mitochondrial Complex 5 deficiency|SNE|necrotizing encephalopathy, infantile Subacute, of Leigh|subacute necrotizing encephalopathy|LS|Leigh disease|Leigh's necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 1 deficiency|Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh syndrome due to mitochondrial Complex 4 deficiency ICD9:330.8|OMIM:220111|MedDRA:10062950|OMIM:256000|SCTID:29570005|GARD:0006877|Orphanet:506|DOID:3652|NCIT:C84814|MESH:D007888|ICD10:G31.8|ICD10:G31.82|Orphanet:255210|UMLS:C0023264 owl:Class MONDO:0020257 biolink:NamedThing supranuclear oculomotor palsy Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. tmpte7i6ely_mondo_relaxed.owl supranuclear ocular palsy|gaze palsy|supranuclear disorder of eye movement|conjugate gaze palsy GARD:0008403|Orphanet:98687 Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves owl:Class GO:0033365 biolink:NamedThing protein localization to organelle A process in which a protein is transported to, or maintained in, a location within an organelle. tmpte7i6ely_mondo_relaxed.owl protein localisation to organelle|protein localization in organelle owl:Class MONDO:0018879 biolink:NamedThing lichen planopilaris Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. tmpte7i6ely_mondo_relaxed.owl lichen planopilaris classic type|lichen planus follicularis|Kossard disease|frontal fibrosing alopecia (subtype)|LPP|follicular lichen planus|lichen follicularis Orphanet:525|ICD10:L66.1|GARD:0003247|UMLS:C0023645|SCTID:64540004|MESH:C535892 owl:Class MONDO:0009074 biolink:NamedThing facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY UMLS:C1857352|MESH:C535985|Orphanet:1970|OMIM:220219|ICD10:Q87.8 owl:Class MONDO:0021571 biolink:NamedThing multiple sclerosis, susceptibility to 1 tmpte7i6ely_mondo_relaxed.owl multiple sclerosis, susceptibility to, 1|MS1|MS|multiple sclerosis, susceptibility to|susceptibility to multiple sclerosis|disseminated sclerosis OMIM:126200|UMLS:CN031763 owl:Class MONDO:0013815 biolink:NamedThing FGFR2-related bent bone dysplasia tmpte7i6ely_mondo_relaxed.owl perinatal lethal bent bone dysplasia|bent bone dysplasia syndrome|bent bone dysplasia (BBD)-FGFR2 type|BBDS UMLS:C3281247|GARD:0010965|Orphanet:313855|OMIM:614592 owl:Class NCBITaxon:123737 biolink:NamedThing Oestrus ovis tmpte7i6ely_mondo_relaxed.owl sheep bot fly GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123736 biolink:NamedThing Oestrus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017052 biolink:NamedThing intermediate maple syrup urine disease Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. tmpte7i6ely_mondo_relaxed.owl intermediate maple syrup urine disease|Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency|Intermediate MSUD|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency|Intermediate BCKD deficiency SCTID:405287008|OMIM:248600|Orphanet:268162|ICD10:E71.0|OMIM:615135 owl:Class HGNC:3861 biolink:NamedThing FRA16E tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016061 biolink:NamedThing immunodeficiency with factor H anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:200421|OMIM:609814|ICD10:D84.1 owl:Class MONDO:0012302 biolink:NamedThing parietal foramina 3 tmpte7i6ely_mondo_relaxed.owl parietal foramina 3|PFM3 Orphanet:60015|UMLS:C1835980|OMIM:609566|MESH:C563697 owl:Class MONDO:0018953 biolink:NamedThing parietal foramina Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. tmpte7i6ely_mondo_relaxed.owl enlarged parietal foramina|fenestrae parietales symmetricae|catlin marks|symmetric parietal foramina|Caitlin marks|foramina parietalia permagna|hereditary cranium bifidum|parietal foramina SCTID:718099006|MESH:C566826|ICD10:Q75.8|OMIMPS:168500|OMIM:168500|OMIM:609597|HP:0002697|DOID:0060285|Orphanet:60015|OMIM:609566 owl:Class MONDO:0005493 biolink:NamedThing delayed encephalopathy after acute carbon monoxide poisoning Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event tmpte7i6ely_mondo_relaxed.owl EFO:0005534 owl:Class HGNC:2219 biolink:NamedThing COL9A3 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7q11.23 biolink:NamedThing 7q11.23 (Human) tmpte7i6ely_mondo_relaxed.owl 77900000 72700000 hg38 owl:Class MONDO:0010617 biolink:NamedThing male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl hypogonadism, MALE, with mental retardation and skeletal anomalies|hypogonadism, MALE, with intellectual disability and skeletal anomalies|Sohval-Soffer syndrome MESH:C564406|SCTID:722459008|Orphanet:2234|ICD10:Q87.8|OMIM:307500 owl:Class GO:0045932 biolink:NamedThing negative regulation of muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of muscle contraction. tmpte7i6ely_mondo_relaxed.owl down-regulation of muscle contraction|down regulation of muscle contraction|inhibition of muscle contraction|downregulation of muscle contraction owl:Class HGNC:12563 biolink:NamedThing UMPS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100230 biolink:NamedThing fatty acyl-CoA reductase 1 dysregulation A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids. tmpte7i6ely_mondo_relaxed.owl fatty acyl-CoA reductase 1 dysregulation|FAR1 dysregulation https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100275 biolink:NamedThing fatty acyl-CoA reductase defects Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene. tmpte7i6ely_mondo_relaxed.owl FAR1 defect|fatty acyl-CoA reductase defects http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014624 biolink:NamedThing Brown syndrome Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle. tmpte7i6ely_mondo_relaxed.owl Brown's (tendon) sheath syndrome|BRWNS|tendon sheath adherence, Superior oblique|Brown's tendon sheath syndrome|Brown tendon sheath syndrome|superior oblique tendon sheath syndrome|Brown's sheath syndrome|Brown syndrome ICD10:H50.61|DOID:10235|SCTID:35929003|ICD9:378.61|GARD:0005963|UMLS:C0155339|OMIM:616407 owl:Class MONDO:0024295 biolink:NamedThing skin disease caused by bacterial infection Skin diseases caused by bacteria. tmpte7i6ely_mondo_relaxed.owl skin disease, bacterial|Bacteria skin disease caused by infection|disease, bacterial skin|Bacteria caused skin disease caused by infection|bacterial skin disease|bacterial skin diseases|diseases, bacterial skin MESH:D017192 owl:Class MONDO:0014967 biolink:NamedThing heterotaxy, visceral, 8, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene. tmpte7i6ely_mondo_relaxed.owl PKD1L1 visceral heterotaxy|HTX8|heterotaxy, visceral, 8, autosomal|visceral heterotaxy caused by mutation in PKD1L1|heterotaxy, visceral, 8, autosomal; HTX8 OMIM:617205|UMLS:C4310668 owl:Class MONDO:0007873 biolink:NamedThing lactic acidosis, chronic adult form tmpte7i6ely_mondo_relaxed.owl lactic acidosis, chronic adult form OMIM:150170|UMLS:C1835591|MESH:C563640 owl:Class MONDO:0007872 biolink:NamedThing LADD syndrome Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations. tmpte7i6ely_mondo_relaxed.owl LACRIMOAURICULODENTODIGITAL syndrome|Lacrimo-auriculo-dento-digital syndrome|Lacrimoauriculodento-digital syndrome|levy-Hollister syndrome|lard syndrome|levy Hollister syndrome|LADD|Lacrimoauriculoradiodental syndrome|lacrimoauriculodentodigital syndrome|LADD syndrome SCTID:23817003|ICD9:759.89|DOID:0050331|UMLS:C0265269|OMIM:149730|ICD10:Q87.8|MESH:C538132|Orphanet:2363|GARD:0006848 owl:Class MONDO:0020197 biolink:NamedThing EEC syndrome and related syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN207046|Orphanet:98609 Editor note: check this owl:Class MONDO:0012972 biolink:NamedThing febrile seizures, familial, 10 tmpte7i6ely_mondo_relaxed.owl febrile seizures, familial, 10|convulsions, familial febrile, 10|FEB10 DOID:0111304|MESH:C567218|OMIM:612637|UMLS:C2675251 owl:Class MONDO:0000032 biolink:NamedThing febrile seizures, familial tmpte7i6ely_mondo_relaxed.owl seizures, familial febrile OMIMPS:121210|DOID:0111297 owl:Class MONDO:0018122 biolink:NamedThing digital anomalies-intellectual disability-short stature syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.2|UMLS:CN204494|Orphanet:352487 owl:Class MONDO:0008672 biolink:NamedThing Watson syndrome Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. tmpte7i6ely_mondo_relaxed.owl Watson syndrome|WTSN|cafe-Au-lait Spots with pulmonic stenosis|pulmonic stenosis with cafe-Au-lait Spots ICD9:709.8|OMIM:193520|GARD:0005540|UMLS:CN204429|Orphanet:3444|SCTID:403820003 https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome owl:Class MONDO:0002553 biolink:NamedThing cerebellopontine angle tumor A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma. tmpte7i6ely_mondo_relaxed.owl C-P angle tumor|tumor of the cerebellopontine angle|tumor of cerebellopontine angle|neoplasm of cerebellar Pontine angle|tumor of the cerebellar Pontine angle|cerebellar Pontine angle tumor|neoplasm of the C-P angle|C-P angle neoplasm|cerebellar Pontine angle neoplasm|tumor of the C-P angle|tumor of C-P angle|neoplasm of cerebellopontine angle|cerebellopontine angle neoplasm|cerebellopontine angle tumor|tumor of cerebellar Pontine angle|neoplasm of the cerebellar Pontine angle|neoplasm of C-P angle|neoplasm of the cerebellopontine angle|cerebellopontine angle neoplasm (disease) NCIT:C5414|DOID:3200|SCTID:126947009 owl:Class MONDO:0100100 biolink:NamedThing SELENON-related myopathy Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. tmpte7i6ely_mondo_relaxed.owl SEPN1-related myopathy|SELENON-related myopathy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010613 biolink:NamedThing inborn glycerol kinase deficiency An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity. tmpte7i6ely_mondo_relaxed.owl hyperglycerolemia|glycerol kinase deficiency|GK deficiency|inborn error of glycerol kinase activity|inborn glycerol kinase activity disorder|rare inborn error of glycerol kinase activity|GK1 deficiency|GKD DOID:0060363|SCTID:124322002|Orphanet:308993|OMIM:307030|Orphanet:408 owl:Class UBERON:0014398 biolink:NamedThing respiratory muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019087 biolink:NamedThing cholangiocarcinoma A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. tmpte7i6ely_mondo_relaxed.owl cholangiocarcinoma|adult primary cholangiocellular carcinoma|adult primary cholangiocarcinoma|CC|cholangiocarcinoma, malignant|intrahepatic bile duct cancer (cholangiocarcinoma)|Cholangiocellular carcinoma|cholangiosarcoma|Cholangiocar.- intra/extrahepatic|CCA|cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|bile duct cancer MedDRA:10004593|ICD10:C24.9|SCTID:312104005|DOID:4947|NCIT:C4436|Orphanet:70567|EFO:0005221|GARD:0009304|ICD10:C24.8|ICD10:C22.1|ICD10:C24.0|OMIM:615619|MedDRA:10008593|ICDO:8160/3|UMLS:C0740277|ONCOTREE:CHOL|UMLS:C0206698|MESH:D018281 owl:Class GO:0002893 biolink:NamedThing negative regulation of type II hypersensitivity Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity. tmpte7i6ely_mondo_relaxed.owl down-regulation of type II hypersensitivity|downregulation of type II hypersensitivity|down regulation of type II hypersensitivity|inhibition of type II hypersensitivity owl:Class GO:0002890 biolink:NamedThing negative regulation of immunoglobulin mediated immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpte7i6ely_mondo_relaxed.owl down regulation of immunoglobulin mediated immune response|down-regulation of immunoglobulin mediated immune response|inhibition of immunoglobulin mediated immune response|downregulation of immunoglobulin mediated immune response owl:Class MONDO:0006827 biolink:NamedThing lateral medullary syndrome A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. tmpte7i6ely_mondo_relaxed.owl Wallenberg syndrome|Posterior inferior cerebellar artery syndrome|Wallenberg's syndrome|Lateral medullary syndrome|PICA syndrome|Vertebral artery syndrome MESH:D014854|EFO:1001011|DOID:3522|SCTID:78569004|MedDRA:10024033|NCIT:C84807|UMLS:C0043019|ICD10:G46.3|ICD9:437.1|GARD:0009263 owl:Class MONDO:0006686 biolink:NamedThing brain stem infarction Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. tmpte7i6ely_mondo_relaxed.owl brain infarction of brainstem|brainstem brain infarction|brainstem infarction UMLS:C0521542|DOID:3523|EFO:1000847|SCTID:95457000|MESH:D020526|ICD9:434.91 owl:Class GO:0046173 biolink:NamedThing polyol biosynthetic process The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. tmpte7i6ely_mondo_relaxed.owl polyol formation|polyol biosynthesis|polyol synthesis|polyol anabolism|polyhydric alcohol biosynthetic process owl:Class HGNC:1583 biolink:NamedThing CCND2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007212 biolink:NamedThing brachydactyly-long thumb syndrome Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981. tmpte7i6ely_mondo_relaxed.owl brachydactyly, long thumb type|brachydactyly long thumb type|long-thumb brachydactyly syndrome|brachydactyly, long-thumb type GARD:0000968|Orphanet:2946|SCTID:733454004|MESH:C566204|OMIM:112430|UMLS:C1862169|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type owl:Class UBERON:0004234 biolink:NamedThing iris smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013068 biolink:NamedThing age-related hearing impairment 2 tmpte7i6ely_mondo_relaxed.owl ARHI2|presbycusis 2|age-related hearing impairment 2 UMLS:C2751814|OMIM:612976|MESH:C567834 owl:Class MONDO:0700027 biolink:NamedThing chromosome X disorder Chromosomal disorder in which chromosome X is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0010472 biolink:NamedThing developmental and epileptic encephalopathy, 36 tmpte7i6ely_mondo_relaxed.owl CDG1S|CDG syndrome type Is|CDG Is|CDG-Is|EIEE36|congenital disorder of glycosylation, type Is|congenital disorder of glycosylation type Is|ALG13-CDG|DEE36|congenital disorder of glycosylation type 1s|epileptic encephalopathy, early infantile, 36 Orphanet:324422|OMIM:300884|ICD10:E77.8|UMLS:C3550904|SCTID:733451007|DOID:0080470|GARD:0012401 owl:Class GO:0140245 biolink:NamedThing regulation of translation at postsynapse Any process that regulates translation occurring at the postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043529 biolink:NamedThing carcinoid heart disease Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation. tmpte7i6ely_mondo_relaxed.owl heart diseases, carcinoid|heart disease, carcinoid|carcinoid heart diseases|carcinoid heart disease EFO:1001775|UMLS:C0007093|SCTID:36222008|MESH:D002275 owl:Class MONDO:0032935 biolink:NamedThing rhizomelic limb shortening with dysmorphic features tmpte7i6ely_mondo_relaxed.owl RLSDF|RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES OMIM:618821 owl:Class GO:0061615 biolink:NamedThing glycolytic process through fructose-6-phosphate The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH. tmpte7i6ely_mondo_relaxed.owl glycolysis through fructose-6-phosphate owl:Class GO:0045984 biolink:NamedThing negative regulation of pyrimidine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpte7i6ely_mondo_relaxed.owl down regulation of pyrimidine base metabolic process|inhibition of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolism|negative regulation of pyrimidine base metabolic process|down-regulation of pyrimidine base metabolic process|downregulation of pyrimidine base metabolic process owl:Class MONDO:0010991 biolink:NamedThing laterality defects, autosomal dominant tmpte7i6ely_mondo_relaxed.owl laterality defects, autosomal dominant|laterality defects dominant Orphanet:450|MESH:C563391|OMIM:601086|GARD:0003198|UMLS:C1832813 owl:Class MONDO:0016197 biolink:NamedThing qualitative or quantitative defects of selenoprotein N1 tmpte7i6ely_mondo_relaxed.owl Orphanet:209193 owl:Class GO:0050890 biolink:NamedThing cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9115 biolink:NamedThing PMM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007257 biolink:NamedThing candidiasis, familial, 1 tmpte7i6ely_mondo_relaxed.owl Cmct|candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease|CANDF1|candidiasis, familial, 1 OMIM:114580|MESH:C567779|UMLS:C2751429 owl:Class MONDO:0000633 biolink:NamedThing sensory organ benign neoplasm A benign neoplasm that involves the sense organ. tmpte7i6ely_mondo_relaxed.owl sense organ benign neoplasm DOID:0060096 owl:Class MONDO:0032772 biolink:NamedThing brain abnormalities, neurodegeneration, and dysosteosclerosis tmpte7i6ely_mondo_relaxed.owl BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS|BANDDOS OMIM:618476 owl:Class MONDO:0015250 biolink:NamedThing spinal atrophy-ophthalmoplegia-pyramidal syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. tmpte7i6ely_mondo_relaxed.owl Hamano-Tsukamoto syndrome|Hamano Tsukamoto syndrome|spinal atrophy ophthalmoplegia pyramidal syndrome|infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms Orphanet:1217|GARD:0004942|ICD10:G12.2|MESH:C535625|UMLS:C2930956 https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome owl:Class MONDO:0014632 biolink:NamedThing hypomyelinating leukodystrophy 10 Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 10|hypomyelinating leukodystrophy type 10|leukodystrophy, hypomyelinating, type 10|PYCR2 leukodystrophy|HLD10|leukodystrophy caused by mutation in PYCR2 OMIM:616420|DOID:0060788|UMLS:C4225332 owl:Class MONDO:0000925 biolink:NamedThing hyperlucent lung A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax. tmpte7i6ely_mondo_relaxed.owl DOID:10032|UMLS:C0524799|MESH:D019568 owl:Class MONDO:0004849 biolink:NamedThing pulmonary emphysema A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. tmpte7i6ely_mondo_relaxed.owl emphysema|emphysema, pulmonary GARD:0011937|ICD10:J43.8|SCTID:87433001|MESH:D004646|ICD9:492|NCIT:C3348|EFO:0000464|DOID:9675|OMIM:130700|MESH:D011656|ICD9:492.8|ICD10:J43 owl:Class MONDO:0002105 biolink:NamedThing toxic megacolon An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. tmpte7i6ely_mondo_relaxed.owl ICD9:564.7|MESH:D008532|ICD10:K59.3|ICD10:K59.31|UMLS:C0025162|SCTID:28536002|DOID:1770 owl:Class MONDO:0001273 biolink:NamedThing megacolon An abnormal dilation of the colon not due to obstruction. tmpte7i6ely_mondo_relaxed.owl dilatation of colon ICD10:K59.3|NCIT:C34810|DOID:11372|MESH:D008531|SCTID:33995003|ICD9:564.7 owl:Class CL:0000358 biolink:NamedThing sphincter associated smooth muscle cell A smooth muscle cell that is part of a sphincter. A sphincter is a typically circular muscle that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. tmpte7i6ely_mondo_relaxed.owl cell owl:Class UBERON:0013502 biolink:NamedThing 5th arch mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032763 biolink:NamedThing immunodeficiency 62 tmpte7i6ely_mondo_relaxed.owl immunodeficiency 62|IMMUNODEFICIENCY 62|IMD62 OMIM:618459 owl:Class MONDO:0003828 biolink:NamedThing growth hormone-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly. tmpte7i6ely_mondo_relaxed.owl malignant pituitary gland Somatotrophinoma|malignant Growth hormone secreting neoplasm of pituitary|malignant pituitary gland somatotropinoma|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone secreting tumor of pituitary gland|malignant pituitary Somatotrophinoma|malignant Growth hormone producing tumor of the pituitary|malignant Somatotrophinoma of the pituitary gland|malignant Growth hormone producing neoplasm of pituitary gland|malignant Growth hormone secreting neoplasm of the pituitary|Growth hormone-producing pituitary gland carcinoma|malignant Growth hormone secreting pituitary gland tumor|malignant Growth hormone producing neoplasm of the pituitary|malignant Growth hormone producing tumor|malignant Growth hormone producing neoplasm of the pituitary gland|malignant Growth hormone secreting pituitary gland neoplasm|malignant Growth hormone producing neoplasm of pituitary|malignant Growth hormone producing tumor of the pituitary gland|malignant Somatotrophinoma of pituitary gland|malignant Growth hormone secreting tumor of pituitary|malignant Growth hormone producing pituitary gland tumor|malignant Growth hormone secreting tumor of the pituitary|malignant pituitary somatotropinoma|malignant somatotropinoma of pituitary|malignant Growth hormone secreting neoplasm of pituitary gland|malignant Growth hormone producing pituitary neoplasm|malignant somatotropinoma of pituitary gland|malignant Somatotrophinoma of pituitary|malignant Growth hormone secreting pituitary tumor|Growth hormone producing pituitary gland carcinoma|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone producing pituitary tumor|malignant somatotropinoma of the pituitary|malignant Growth hormone producing pituitary gland neoplasm|malignant Growth hormone producing tumor of pituitary gland|malignant Growth hormone secreting pituitary neoplasm|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant somatotropinoma of the pituitary gland|malignant somatotropinoma UMLS:C1334587|NCIT:C5963|DOID:6256 owl:Class MONDO:0100255 biolink:NamedThing adenosine kinase deficiency A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. tmpte7i6ely_mondo_relaxed.owl ADK hypermethioninemia|mental retardation, autosomal recessive 8; MRT8|hypermethioninemia encephalopathy due to ADK deficiency|hypermethioninemia due to adenosine kinase deficiency|mental retardation, autosomal recessive 8, formerly|adenosine kinase deficiency|MRT8|mental retardation, autosomal recessive 8|ADK deficiency|hypermethioninemia encephalopathy due to adenosine kinase deficiency|autosomal recessive mental retardation 8|autosomal recessive intellectual disability 8 UMLS:C1970196|UMLS:C3280381|MESH:C567015|ICD10:E72.1|OMIM:611094|OMIM:614300|Orphanet:289290|DOID:0111038 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2587 owl:Class HP:0040215 biolink:NamedThing Abnormal circulating insulin level An abnormal concentration of insulin in the blood. tmpte7i6ely_mondo_relaxed.owl UMLS:C4073161 human_phenotype owl:Class HP:0040214 biolink:NamedThing Abnormal insulin level An abnormal concentration of insulin in the body. tmpte7i6ely_mondo_relaxed.owl UMLS:C4073160 human_phenotype owl:Class GO:1903828 biolink:NamedThing negative regulation of cellular protein localization Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpte7i6ely_mondo_relaxed.owl down-regulation of cellular protein localisation|down-regulation of cellular protein localization|negative regulation of channel localizer activity|down regulation of cellular protein localisation|downregulation of channel localizer activity|down regulation of cellular protein localization|down-regulation of channel localizer activity|downregulation of cellular protein localisation|inhibition of channel localizer activity|inhibition of cellular protein localization|downregulation of cellular protein localization|negative regulation of cellular protein localisation|inhibition of cellular protein localisation|down regulation of channel localizer activity owl:Class MONDO:0002740 biolink:NamedThing uterine ligament mucinous adenocarcinoma A rare mucinous adenocarcinoma that arises from the uterine ligament. tmpte7i6ely_mondo_relaxed.owl uterine ligament mucinous adenocarcinoma NCIT:C40137|DOID:3699|UMLS:C1519869 owl:Class MONDO:0014571 biolink:NamedThing optic atrophy 9 tmpte7i6ely_mondo_relaxed.owl optic atrophy 9|ACO2 autosomal recessive isolated optic atrophy|OPA9|autosomal recessive isolated optic atrophy caused by mutation in ACO2 UMLS:C4085249|DOID:0111442|OMIM:616289 owl:Class MONDO:0014753 biolink:NamedThing autosomal recessive optic atrophy tmpte7i6ely_mondo_relaxed.owl autosomal recessive isolated optic atrophy|autosomal recessive nonsyndromic optic atrophy OMIM:617302|OMIM:612989|OMIM:616289|UMLS:CN229293|OMIM:616732|OMIM:258500|ICD10:H47.2|Orphanet:98676 ORDO treats as isolated but includes syndromic forms as OMIM xrefs owl:Class MONDO:0018416 biolink:NamedThing autosomal recessive spastic paraplegia type 59 tmpte7i6ely_mondo_relaxed.owl SPG59 ICD10:G11.4|Orphanet:401795|UMLS:CN226121 owl:Class UBERON:0004470 biolink:NamedThing musculature of pelvic girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018521 biolink:NamedThing squamous cell carcinoma of pancreas A squamous cell carcinoma that involves the pancreas. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of the pancreas|pancreas squamous cell carcinoma|pancreatic squamous cell carcinoma DOID:0080323|UMLS:C2675993|ICD10:C25.7|Orphanet:424039|UMLS:CN237524|ICD10:C25.8|ICD10:C25.2|ICD10:C25.0|ICD10:C25.1 owl:Class MONDO:0001883 biolink:NamedThing blue toe syndrome A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. tmpte7i6ely_mondo_relaxed.owl DOID:14121|UMLS:C0242645|MESH:D018438 owl:Class MONDO:0005568 biolink:NamedThing cholesterol embolism Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. tmpte7i6ely_mondo_relaxed.owl purple toe syndrome|cholesterol crystal embolism|atheroembolism|warfarin blue toe syndrome|trash foot MESH:D017700|UMLS:C0149649|UMLS:C0585266|ICD10:I75|DOID:1461|ICD9:459.89|ICD9:445|EFO:0005801|SCTID:307406004 owl:Class MONDO:0024571 biolink:NamedThing AIDS-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. tmpte7i6ely_mondo_relaxed.owl disease associated with AIDS|AIDS/HIV - relatedDisease associated with AIDS|AIDS-related disorder|AIDS-related complications UMLS:C0877121|NCIT:C4991 owl:Class CL:0002658 biolink:NamedThing glandular cell of the large intestine A glandular epithelial cell of the large intestine. tmpte7i6ely_mondo_relaxed.owl FMA:87194 tmeehan 2011-07-08T04:03:01Z cell owl:Class GO:2001224 biolink:NamedThing positive regulation of neuron migration Any process that activates or increases the frequency, rate or extent of neuron migration. tmpte7i6ely_mondo_relaxed.owl positive regulation of neuronal migration|positive regulation of neuron chemotaxis|positive regulation of neuron guidance owl:Class UBERON:0010684 biolink:NamedThing pedal digit 5 phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015035 biolink:NamedThing pedal digit 5 phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011889 biolink:NamedThing Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2I|Charcot Marie Tooth disease type 2I|Charcot-Marie-Tooth neuropathy, type 2I|CMT 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth neuropathy type 2I|CMT2I SCTID:717013009|UMLS:C1837552|DOID:0110158|UMLS:CN207466|ICD10:G60.0|Orphanet:99942|OMIM:607677|GARD:0009197 https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i owl:Class HP:0000768 biolink:NamedThing Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. tmpte7i6ely_mondo_relaxed.owl Pigeon chest MSH:D066166|SNOMEDCT_US:205101001|UMLS:C0158731 HP:0006639 human_phenotype owl:Class HP:0000766 biolink:NamedThing Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone. tmpte7i6ely_mondo_relaxed.owl Abnormality of the sternum|Pectus deformity|Pectus deformities|Pectus excavatum/carinatum|Pectus excavatum or pectus carinatum|Sternal anomalies|Pectus carinatum or pectus excavatum|Pectus excavatum or carinatum UMLS:C1860493 HP:0006605|HP:0000780|HP:0006708|HP:0006594|HP:0006586|HP:0006630 human_phenotype owl:Class GO:0006023 biolink:NamedThing aminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpte7i6ely_mondo_relaxed.owl aminoglycan formation|aminoglycan anabolism|aminoglycan biosynthesis|aminoglycan synthesis owl:Class GO:0006022 biolink:NamedThing aminoglycan metabolic process The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpte7i6ely_mondo_relaxed.owl aminoglycan metabolism owl:Class UBERON:0005092 biolink:NamedThing right horn of sinus venosus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005671 biolink:NamedThing Blastocystis infectious disease Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue. tmpte7i6ely_mondo_relaxed.owl Blastocystis infection|infection, Blastocystis|infections, Blastocystis SCTID:721809007|EFO:0007173|MESH:D016776 owl:Class GO:0070093 biolink:NamedThing negative regulation of glucagon secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon. tmpte7i6ely_mondo_relaxed.owl downregulation of glucagon secretion|inhibition of glucagon secretion|down-regulation of glucagon secretion|down regulation of glucagon secretion owl:Class GO:0031667 biolink:NamedThing response to nutrient levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001563 biolink:NamedThing vestibulocochlear nerve disorder A disease involving the vestibulocochlear nerve. tmpte7i6ely_mondo_relaxed.owl disease or disorder of vestibulocochlear nerve|vestibulocochlear nerve disorder|acoustic nerve disorder NOS|disorder of acoustic nerve|disorder of the vestibulocochlear nerve|acoustic nerve disorder|disorder of vestibulocochlear nerve|vestibulocochlear nerve disease or disorder|acoustic nerve disease|disease of vestibulocochlear nerve|vestibulocochlear nerve disease|disorder of eighth nerve|disorder of acoustovestibular nerve ICD10:H93.3X|SCTID:77949003|MESH:D000160|ICD9:388.5|UMLS:C0001163|DOID:12657|ICD10:H93.3|NCIT:C27207 owl:Class MONDO:0002453 biolink:NamedThing retrocochlear disease Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. tmpte7i6ely_mondo_relaxed.owl MESH:D012181|DOID:2889|UMLS:C0035352 owl:Class CHEBI:33597 biolink:NamedThing homocyclic compound A cyclic compound having as ring members atoms of the same element only. tmpte7i6ely_mondo_relaxed.owl isocyclic compounds|homocyclic compound|homocyclic compounds owl:Class CHEBI:33595 biolink:NamedThing cyclic compound Any molecule that consists of a series of atoms joined together to form a ring. tmpte7i6ely_mondo_relaxed.owl cyclic compounds owl:Class MONDO:0019393 biolink:NamedThing idiopathic malabsorption due to bile acid synthesis defects Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea. tmpte7i6ely_mondo_relaxed.owl idiopathic bile acid malabsorption Orphanet:84065|ICD10:K90.8 owl:Class MONDO:0017590 biolink:NamedThing carcinoma of the ampulla of vater A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpte7i6ely_mondo_relaxed.owl carcinoma of ampulla of vater|carcinoma of hepatopancreatic ampulla|AMPCA|ampullary cancer|ampulla of Vater cancer|Ampulloma|ampullary carcinoma|hepatopancreatic ampulla carcinoma|ampulla of Vater carcinoma EFO:1000079|DOID:4932|NCIT:C3908|Orphanet:300557|MedDRA:10048853|ICD10:C24.1|ONCOTREE:AMPCA|UMLS:C0262401|SCTID:254609000 owl:Class MONDO:0021041 biolink:NamedThing pleural solitary fibrous tumor A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. tmpte7i6ely_mondo_relaxed.owl solitary fibrous tumor of the pleura|pleural fibroma|pleural Submesothelial fibroma|pleural solitary fibrous tumor|pleural cavity solitary fibrous tumor|solitary fibrous tumor of pleura|fibroma of pleura|pleura solitary fibrous tumor|localized fibrous mesothelioma of the pleura|fibroma of the pleura|localized fibrous mesothelioma of pleura EFO:1000835|SCTID:254646001|NCIT:C4457 owl:Class MONDO:0027766 biolink:NamedThing generalized lipodystrophy Almost complete absence of subcutaneous and/or visceral adipose tissue. tmpte7i6ely_mondo_relaxed.owl complete generalized lipodystrophy DOID:0080298|NCIT:C131815|HP:0009064|UMLS:C4317112 owl:Class MONDO:0000705 biolink:NamedThing Clostridium difficile colitis A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. tmpte7i6ely_mondo_relaxed.owl pseudomembranous colitis|Clostridioides difficile caused colitis (disease)|C. diff colitis|C. diff infection|Clostridium difficile infection|Clostridioides difficile colitis (disease) MedDRA:10009657|SCTID:423590009|EFO:0009130|DOID:0060185|NCIT:C35286|ICD10:A04.7|MESH:D004761 owl:Class MONDO:0000654 biolink:NamedThing benign connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. tmpte7i6ely_mondo_relaxed.owl benign mesenchymal cell neoplasm|benign connective and soft tissue neoplasm|benign neoplasm of the soft tissue and bone|connective tissue benign neoplasm|benign connective and soft tissue tumor|soft tissue benign neoplasm|benign tumor of the soft tissue and bone|neoplasm of soft tissues|tumor of the soft tissue|neoplasm of soft tissue|connective and soft tissue neoplasm, benign NCIT:C3377|SCTID:387837005|NCIT:C53684|DOID:0060123 owl:Class MONDO:0020419 biolink:NamedThing pulmonary artery hypoplasia tmpte7i6ely_mondo_relaxed.owl pulmonary artery hypoplasia (disease)|pulmonary artery hypoplasia pulmonary artery hypoplasia (disease) Orphanet:99083|HP:0004971|SCTID:54682008|ICD10:Q25.7 owl:Class UBERON:0004521 biolink:NamedThing vasculature of muscle organ tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:37962 biolink:NamedThing adrenergic agent Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. tmpte7i6ely_mondo_relaxed.owl adrenergic drug|adrenergics|adrenergic agents|adrenergic drugs|adrenergic neuron agents owl:Class MONDO:0022555 biolink:NamedThing Beardwell syndrome tmpte7i6ely_mondo_relaxed.owl familial ankylosing vertebral hyperostosis with tylosis MESH:C537665|UMLS:C2931581 owl:Class MONDO:0032684 biolink:NamedThing intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency tmpte7i6ely_mondo_relaxed.owl INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY|IMAGEI|Imagei Syndrome OMIM:618336 owl:Class MONDO:0019104 biolink:NamedThing Sandifer syndrome Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. tmpte7i6ely_mondo_relaxed.owl Sandifer's syndrome MESH:C537234|NCIT:C113397|MedDRA:10066142|Orphanet:71272|GARD:0009684|UMLS:C0338465|SCTID:230314007 https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome owl:Class UBERON:0001304 biolink:NamedThing germinal epithelium of ovary tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004911 biolink:NamedThing epithelium of female gonad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016545 biolink:NamedThing pharyngeal ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002565 biolink:NamedThing myelitis An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. tmpte7i6ely_mondo_relaxed.owl inflammation of spinal cord|spinal cord inflammation MESH:D009187|NCIT:C26832|DOID:322|GARD:0007130|EFO:1001472|SCTID:41370002|ICD9:323.9|UMLS:C0026975 https://rarediseases.info.nih.gov/diseases/7130/myelitis owl:Class MONDO:0008941 biolink:NamedThing hepatic fibrosis-renal cysts-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome|Thompson-Baraitser syndrome|Thompson Baraitser syndrome GARD:0005177|MESH:C565867|Orphanet:2031|OMIM:213010 owl:Class MONDO:0007775 biolink:NamedThing hypersecretion of adrenal androgens, familial tmpte7i6ely_mondo_relaxed.owl familial hypersecretion of adrenal androgens|hypersecretion of adrenal androgens, familial MESH:C536845|OMIM:145295|UMLS:C1840387|GARD:0009593 https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens owl:Class MONDO:0013909 biolink:NamedThing human herpesvirus 8, susceptibility to tmpte7i6ely_mondo_relaxed.owl HUMAN HERPESVIRUS 8, susceptibility to|HHV-8, susceptibility to|HHV8S OMIM:614836 owl:Class MONDO:0011636 biolink:NamedThing Diamond-Blackfan anemia 2 tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan Anemia, 2|anemia Diamond-Blackfan 2|Diamond-Blackfan anemia 2|DBA2 GARD:0008283|MESH:C536130|UMLS:C1853666|OMIM:606129 https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2 owl:Class FOODON:03414381 biolink:NamedThing bovid A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin. The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411134 biolink:NamedThing mammal Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905787 biolink:NamedThing regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that modulates the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpte7i6ely_mondo_relaxed.owl regulation of tactition, sensory detection of mechanical stimulus|regulation of perception of touch, sensory detection of mechanical stimulus|regulation of sensory detection of mechanical stimulus during perception of touch|regulation of sensory transduction of mechanical stimulus during perception of touch|regulation of perception of touch, detection of mechanical stimulus|regulation of perception of touch, sensory transduction of mechanical stimulus owl:Class NCBITaxon:6246 biolink:NamedThing Strongyloididae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2082224 biolink:NamedThing Strongyloidoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0002270 biolink:NamedThing Abnormality of the autonomic nervous system An abnormality of the autonomic nervous system. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025714 The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. human_phenotype owl:Class HP:0410008 biolink:NamedThing Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. tmpte7i6ely_mondo_relaxed.owl Abnormality of the peripheral nervous system UMLS:C4073187 human_phenotype owl:Class MONDO:0024458 biolink:NamedThing disorder of visual system A disease that involves the visual system. tmpte7i6ely_mondo_relaxed.owl disorder of visual system|visual system disorder|disease or disorder of visual system|visual system disease|visual system disease or disorder|disease of visual system SCTID:128127008 owl:Class MONDO:0014136 biolink:NamedThing pulmonary hypertension, primary, 4 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. tmpte7i6ely_mondo_relaxed.owl pulmonary hypertension, primary, 4|KCNK3 primary pulmonary hypertension|primary pulmonary hypertension caused by mutation in KCNK3|pulmonary hypertension, primary, type 4|PPH4 Orphanet:422|OMIM:615344|UMLS:C3809198 owl:Class MONDO:0017148 biolink:NamedThing heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. tmpte7i6ely_mondo_relaxed.owl HpaH|hereditary pulmonary arterial hypertension|FPAH|familial pulmonary arterial hypertension OMIMPS:178600|Orphanet:275777|ICD10:I27.0|UMLS:CN202575|NCIT:C121945|SCTID:697897003 owl:Class HGNC:4289 biolink:NamedThing GK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008718 biolink:NamedThing Morvan syndrome Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. tmpte7i6ely_mondo_relaxed.owl limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan's fibrillary chorea Orphanet:83467|UMLS:C0751540|ICD10:G60.8|GARD:0009766|SCTID:763803004|EFO:1001897 owl:Class MONDO:0019119 biolink:NamedThing muscular channelopathy A channelopathy that involves the muscle tissue. tmpte7i6ely_mondo_relaxed.owl channelopathy of muscle tissue|muscle tissue channelopathy Orphanet:71864|EFO:1001899 owl:Class MONDO:0021471 biolink:NamedThing benign neoplasm of endometrium A benign neoplasm that involves the endometrium. tmpte7i6ely_mondo_relaxed.owl benign tumor of endometrium|benign endometrial tumor|benign endometrial neoplasm|endometrium benign neoplasm|benign endometrium neoplasm|benign endometrium tumor|benign neoplasm of the endometrium|benign tumor of the endometrium NCIT:C4894|SCTID:92086004|UMLS:C0686239 owl:Class UBERON:0005157 biolink:NamedThing epithelial fold tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25671 biolink:NamedThing RNASEH2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017177 biolink:NamedThing hemihyperplasia-multiple lipomatosis syndrome Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. tmpte7i6ely_mondo_relaxed.owl HHML Orphanet:276280|UMLS:CN202613|ICD10:Q87.3 owl:Class CHEBI:142163 biolink:NamedThing 24G7 epitope An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009452 biolink:NamedThing Vici syndrome A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. tmpte7i6ely_mondo_relaxed.owl immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|absent corpus callosum cataract immunodeficiency|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|VICIS|Vici syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome|absent corpus callosum-cataract-immunodeficiency syndrome|Dionisi Vici Sabetta Gambarara syndrome DOID:0060356|ICD10:Q87.8|MESH:C535566|SCTID:719824001|NCIT:C138174|UMLS:C1855772|Orphanet:1493|GARD:0000448|OMIM:242840 https://rarediseases.info.nih.gov/diseases/448/vici-syndrome owl:Class MONDO:0054782 biolink:NamedThing leukodystrophy, hypomyelinating, 15 tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 15|HLD15 OMIM:617951|UMLS:CN244566 owl:Class UBERON:0034903 biolink:NamedThing left atrium endocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002166 biolink:NamedThing endocardium of atrium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35695 biolink:NamedThing dicarboxylic acid monoanion Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid. tmpte7i6ely_mondo_relaxed.owl dicarboxylic acid monoanions owl:Class MONDO:0033135 biolink:NamedThing Charcot-Marie-Tooth disease, demyelinating, type 1G A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, demyelinating, type 1G|PMP2-related Charcot-Marie-Tooth disease type 1|CMT1G Orphanet:476394|OMIM:618279|DOID:0111560 owl:Class MONDO:0012418 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 62 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. tmpte7i6ely_mondo_relaxed.owl DFNB62|autosomal recessive nonsyndromic deafness type 62|autosomal recessive nonsyndromic deafness 62|autosomal recessive deafness 62|deafness, autosomal recessive 62 UMLS:C1857820|ICD10:H90.3|DOID:0110514|MESH:C565719|OMIM:610143 owl:Class UBERON:0008242 biolink:NamedThing lower back muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016745 biolink:NamedThing diffuse leptomeningeal melanocytosis Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. tmpte7i6ely_mondo_relaxed.owl leptomeningeal melanomatosis|DLM Orphanet:252031 owl:Class MONDO:0016744 biolink:NamedThing primary melanocytic tumor of central nervous system tmpte7i6ely_mondo_relaxed.owl primary melanocytic lesion of CNS|primary melanocytic tumor of CNS|primary melanocytic lesion of central nervous system UMLS:CN201991|Orphanet:252028 owl:Class HP:0002795 biolink:NamedThing Abnormal respiratory system physiology tmpte7i6ely_mondo_relaxed.owl Respiratory problem|Functional respiratory abnormality|Abnormal respiration UMLS:C4025677|Fyler:4200 human_phenotype owl:Class SO:1000045 biolink:NamedThing ring_chromosome A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. tmpte7i6ely_mondo_relaxed.owl ring chromosome|(fungi)C|(Drosophila)R owl:Class MONDO:0009520 biolink:NamedThing 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. tmpte7i6ely_mondo_relaxed.owl HMG-CoA lyase deficiency|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|defect in leucine metabolism|hydroxymethylglutaryl-CoA lyase deficiency|Hmgcl deficiency|HMG-Coa lyase deficiency|Hydroxymethylglutaric aciduria|deficiency of hydroxymethylglutaryl-CoA lyase|HL deficiency|3-hydroxy-3-methylglutaric aciduria|HMG CoA lyase deficiency|3-OH 3-Methyl glutaric aciduria|HMGCLD GARD:0008387|NCIT:C84523|MESH:C538324|UMLS:C1533587|SCTID:410059004|UMLS:C0268601|ICD10:E71.1|Orphanet:20|OMIM:246450 owl:Class MONDO:0019215 biolink:NamedThing classic organic aciduria tmpte7i6ely_mondo_relaxed.owl Orphanet:79163 owl:Class GO:0051345 biolink:NamedThing positive regulation of hydrolase activity Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpte7i6ely_mondo_relaxed.owl activation of hydrolase activity|stimulation of hydrolase activity|hydrolase activator|up-regulation of hydrolase activity|up regulation of hydrolase activity|upregulation of hydrolase activity owl:Class MONDO:0015047 biolink:NamedThing amelogenesis imperfecta type 1 tmpte7i6ely_mondo_relaxed.owl hypoplastic amelogenesis imperfecta OMIM:301201|OMIM:617297|OMIM:616270|OMIM:104530|SCTID:109476006|Orphanet:100031|ICD9:520.5|OMIM:104500|OMIM:616221|OMIM:204650|ICD10:K00.5 owl:Class MONDO:0001155 biolink:NamedThing gastrojejunal ulcer tmpte7i6ely_mondo_relaxed.owl chronic gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with hemorrhage and perforation|acute gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer with hemorrhage|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction UMLS:C0156045|ICD10:K28.0|DOID:10927|UMLS:C0156048|UMLS:C0156042|UMLS:C0156050|UMLS:C0156044|UMLS:C0156047|SCTID:4269005|ICD9:534.0 owl:Class MONDO:0007420 biolink:NamedThing autosomal dominant deafness - onychodystrophy syndrome Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. tmpte7i6ely_mondo_relaxed.owl familial ectodermal dysplasia with sensori-neural deafness and other anomalies|autosomal dominant deafness-onychodystrophy syndrome|deafness, congenital, with onychodystrophy, autosomal dominant|deafness and onychodystrophy, dominant form|Robinson Miller Bensimon syndrome|DDOD syndrome|deafness, congenital, and onychodystrophy, autosomal dominant|deafness-onychodystrophy syndrome, autosomal dominant|Ddod syndrome|DDOD|Robinson-Miller-Bensimon syndrome ICD10:Q87.8|Orphanet:3231|UMLS:C2675730|OMIM:124480|GARD:0004732|Orphanet:79499 https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome owl:Class MONDO:0002069 biolink:NamedThing female breast axillary tail cancer A cancer that involves the UBERON:0035289. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of axillary tail of female breast|axillary tail of breast cancer|malignant neoplasm of axillary tail of breast|malignant axillary tail of breast neoplasm|cancer of axillary tail of breast UMLS:C0153554|ICD10:C50.6|ICD9:174.6|DOID:1650|ICD10:C50.61|SCTID:188156001 owl:Class FOODON:03400643 biolink:NamedThing Codex Alimentarius classification of food and feed commodities Codex Alimentarius, Volume 2 - 1993, Section 2: Pesticide Residues in Food. The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989). The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues. The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0643 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class GO:0045577 biolink:NamedThing regulation of B cell differentiation Any process that modulates the frequency, rate or extent of B cell differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of B lymphocyte differentiation|regulation of B cell development|regulation of B-lymphocyte differentiation|regulation of B-cell differentiation owl:Class MONDO:0015012 biolink:NamedThing mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders tmpte7i6ely_mondo_relaxed.owl MPSPS|mucopolysaccharidosis-plus syndrome|mucopolysaccharidosis-like plus disease Orphanet:505248|UMLS:C4310627|OMIM:617303 owl:Class GO:0050907 biolink:NamedThing detection of chemical stimulus involved in sensory perception The series of events in which a chemical stimulus is received and converted into a molecular signal as part of sensory perception. tmpte7i6ely_mondo_relaxed.owl sensory transduction of chemical stimulus|sensory detection of chemical stimulus during sensory perception|sensory perception, sensory detection of chemical stimulus|sensory perception, sensory transduction of chemical stimulus|sensory detection of chemical stimulus|sensory transduction of chemical stimulus during sensory perception owl:Class GO:0050771 biolink:NamedThing negative regulation of axonogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis. tmpte7i6ely_mondo_relaxed.owl down-regulation of axonogenesis|downregulation of axonogenesis|down regulation of axonogenesis|inhibition of axonogenesis owl:Class GO:0050770 biolink:NamedThing regulation of axonogenesis Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001028 biolink:NamedThing acute pericementitis An acute inflammatory process that affects the tissues that surround and support the teeth. tmpte7i6ely_mondo_relaxed.owl periodontitis, acute|acute periodontitis NCIT:C34354|DOID:10423|SCTID:21638000|UMLS:C0001342|ICD9:523.3|ICD9:523.33 owl:Class GO:0010817 biolink:NamedThing regulation of hormone levels Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001637 biolink:NamedThing rRNA_gene A gene that encodes for ribosomal RNA. tmpte7i6ely_mondo_relaxed.owl rDNA|rRNA gene owl:Class SO:0001263 biolink:NamedThing ncRNA_gene A gene that encodes a non-coding RNA. tmpte7i6ely_mondo_relaxed.owl ncRNA gene|non-coding RNA gene owl:Class CL:0000234 biolink:NamedThing phagocyte Any cell capable of ingesting particulate matter via phagocytosis. tmpte7i6ely_mondo_relaxed.owl FMA:83806|BTO:0001044 cell owl:Class MONDO:0006621 biolink:NamedThing vulvar inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. tmpte7i6ely_mondo_relaxed.owl inverted follicular keratosis of mammalian vulva|mammalian vulva inverted follicular keratosis NCIT:C40291|DOID:6943|EFO:1000778|UMLS:C1520084 owl:Class MONDO:0006563 biolink:NamedThing inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. tmpte7i6ely_mondo_relaxed.owl inverted follicular keratosis|inverted folicular keratosis Wikipedia:Inverted_follicular_keratosis|UMLS:C0334019|DOID:6945|EFO:1000717|ICD9:264.8|SCTID:394728005|NCIT:C9007 owl:Class UBERON:0013498 biolink:NamedThing vestibulo-cochlear VIII ganglion complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010268 biolink:NamedThing X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. tmpte7i6ely_mondo_relaxed.owl lissencephaly, X-linked, 2|LISX2|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|lissencephaly, X-linked 2|XLAG syndrome|X-linked lissencephaly with abnormal genitalia|hydranencephaly with abnormal genitalia|lissencephaly, X-linked, type 2|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|lissencephaly, X-linked, with ambiguous genitalia|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|hydranencephaly and abnormal genitalia|X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|X-linked lissencephaly with ambiguous genitalia|Xlisg OMIM:300215|GARD:0012491|SCTID:717632002|ICD10:Q04.3|Orphanet:452|MESH:C564563 https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia owl:Class MONDO:0043839 biolink:NamedThing ulcer disease A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. tmpte7i6ely_mondo_relaxed.owl ulcers|ulcerative|ulceration|ulcerated|ulcer SCTID:429040005|UMLS:C0041582|MESH:D014456|NCIT:C3426 owl:Class UBERON:0002429 biolink:NamedThing cervical lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021811 biolink:NamedThing acute mountain sickness Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances. tmpte7i6ely_mondo_relaxed.owl altitude anoxia|acosta's disease|acute mountain sickness|altitude sickness|high altitude cerebral edema|soroche|high altitude pulmonary edema|Mountain sickness UMLS:C0238284|ICD9:993.2|GARD:0005730|SCTID:78590007 https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness owl:Class MONDO:0006625 biolink:NamedThing altitude sickness Multiple symptoms associated with reduced oxygen at high altitude. tmpte7i6ely_mondo_relaxed.owl ICD10:T70.2|MESH:D000532|EFO:1000782|Wikipedia:Altitude_sickness owl:Class MONDO:0001087 biolink:NamedThing schizotypal personality disorder A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance. tmpte7i6ely_mondo_relaxed.owl DOID:10646|ICD9:301.22|MESH:D012569|NCIT:C92632|ICD10:F21|SCTID:31027006 owl:Class CHEBI:33266 biolink:NamedThing diatomic nitrogen tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33267 biolink:NamedThing elemental nitrogen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008307 biolink:NamedThing heart endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003503 biolink:NamedThing leg blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023206 biolink:NamedThing functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion. tmpte7i6ely_mondo_relaxed.owl functioning pancreatic neuroendocrine tumor|functioning well-differentiated pancreatic NEN|functioning well-differentiated neuroendocrine neoplasm of pancreas|functioning pancreatic endocrine tumor|functioning well differentiated pancreatic endocrine neoplasm|functioning well differentiated pancreatic endocrine tumor|functioning pancreatic NET|functioning well-differentiated pancreatic neuroendocrine neoplasm|functional pancreatic neuroendocrine tumor|functional pancreatic NET|functioning PNET|functioning neuroendocrine tumor of pancreas|functioning well-differentiated NEN of pancreas|syndromic pancreatic NET|syndromic pancreatic neuroendocrine tumor GARD:0002414|UMLS:C1708107|NCIT:C45840|Orphanet:506060 https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor owl:Class MONDO:0010109 biolink:NamedThing tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities tmpte7i6ely_mondo_relaxed.owl tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality|tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|Madokoro Ohdo Sonoda syndrome OMIM:273390|MESH:C536496|GARD:0003348|GARD:0005146 https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities|https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome owl:Class MONDO:0021662 biolink:NamedThing bile duct neoplasm A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma. tmpte7i6ely_mondo_relaxed.owl intrahepatic and extrahepatic bile duct neoplasm|bile duct neoplasm|tumor of bile duct|neoplasm of bile duct|intrahepatic and extrahepatic bile duct tumor|bile duct tumor|bile duct neoplasm (disease) NCIT:C2898|UMLS:C0005396 owl:Class HP:0011024 biolink:NamedThing Abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl Digestive system disease|Abnormality of the gastrointestinal tract|Abnormality of the GI tract|Gastrointestinal disease MSH:D004066|UMLS:C4023588|MSH:D005767|SNOMEDCT_US:119292006|UMLS:C0017178|SNOMEDCT_US:25374005|UMLS:C0012242|SNOMEDCT_US:53619000 peter 2011-03-01T07:52:06Z human_phenotype owl:Class HP:0025031 biolink:NamedThing Abnormality of the digestive system tmpte7i6ely_mondo_relaxed.owl 2016-08-27 13:44:32+00:00 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. HPO:probinson human_phenotype owl:Class ECTO:0000207 biolink:NamedThing exposure to carbon monoxide An exposure to carbon monoxide. tmpte7i6ely_mondo_relaxed.owl exposure to carbon monoxide owl:Class MONDO:0004795 biolink:NamedThing otitis externa Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. tmpte7i6ely_mondo_relaxed.owl outer Ear infection|external Ear infection|swimmer's Ear|otitis externa|infectious otitis externa|swimmer's ear ICD9:380.1|DOID:9463|ICD10:H60|SCTID:3135009|MESH:D010032|NCIT:C3299|ICD9:380.10 owl:Class UBERON:0003233 biolink:NamedThing epithelium of shoulder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005426 biolink:NamedThing MRI defined brain infarct An infarct detected by MRI and not determined to be clinically significant tmpte7i6ely_mondo_relaxed.owl EFO:0004715 This term represents a finding not a disease, it may be obsoleted in future owl:Class MONDO:0005394 biolink:NamedThing brain infarction Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. tmpte7i6ely_mondo_relaxed.owl EFO:0004277|DOID:3454|MESH:D020520|SCTID:230693009|UMLS:C0751955|SCTID:230698000 owl:Class MONDO:0000310 biolink:NamedThing Alkhurma hemorrhagic fever A disease caused by infection with Alkhumra hemorrhagic fever virus. tmpte7i6ely_mondo_relaxed.owl Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus caused disease or disorder|Alkhumra hemorrhagic fever virus disease or disorder DOID:0050308 owl:Class HGNC:2409 biolink:NamedThing CRYGB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010758 biolink:NamedThing Wieacker-Wolff syndrome A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability. tmpte7i6ely_mondo_relaxed.owl intellectual disability-developmental delay-contractures syndrome|Wieacker-Wolff syndrome, X-linked|MCS|Miles-CARPENTER X-linked mental retardation syndrome|contractures of feet, muscle atrophy, and oculomotor apraxia|X-linked intellectual disability, Miles-Carpenter type|MRXS4|Wieacker Wolff syndrome|foot contractures-muscle atrophy-oculomotor apraxia syndrome|apraxia, oculomotor, with congenital contractures and muscle atrophy|Wieacker-Wolff syndrome|Wieacker syndrome|WRWFXLR|mental retardation, X-linked, with congenital contractures and Low fingertip arches|mental retardation, X-linked, syndromic 4|WRWF|Miles-Carpenter syndrome|mental retardation, X-linked, with congenital contractures and low fingertip arches Orphanet:3454|OMIM:314580|Orphanet:85283|MESH:C536703|GARD:0009984|SCTID:719012009|ICD10:G71.8|DOID:0060815|MESH:C537472|GARD:0007890|ICD10:Q87.8|SCTID:722456001 owl:Class HGNC:10402 biolink:NamedThing RPS19 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12814 biolink:NamedThing XPA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900074 biolink:NamedThing negative regulation of neuromuscular synaptic transmission Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission. tmpte7i6ely_mondo_relaxed.owl down regulation of neuromuscular synaptic transmission|inhibition of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission owl:Class GO:1900073 biolink:NamedThing regulation of neuromuscular synaptic transmission Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002233 biolink:NamedThing leukocyte chemotaxis involved in immune response The movement of an immune cell in response to an external stimulus a part of an immune response. tmpte7i6ely_mondo_relaxed.owl immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response owl:Class MONDO:0018983 biolink:NamedThing tolosa-Hunt syndrome Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. tmpte7i6ely_mondo_relaxed.owl painful ophthalmoplegia|tolosa Hunt syndrome|THS|nonspecific inflammation of the cavernous sinus or superior orbital fissure|tolosa-Hunt syndrome NCIT:C85193|UMLS:C0040381|MedDRA:10051526|MESH:D020333|SCTID:95794005|Orphanet:64686|UMLS:C0392060|DOID:1278|GARD:0007777|ICD10:H49.8|UMLS:CN205421 https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome owl:Class MONDO:0015083 biolink:NamedThing nuclear oculomotor paralysis tmpte7i6ely_mondo_relaxed.owl Orphanet:100932 Editor note: see notes for supranuclear owl:Class MONDO:0012495 biolink:NamedThing spondyloepimetaphyseal dysplasia, Genevieve type Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Genevieve type|spondyloepimetaphyseal dysplasia Genevieve type|spondyloepimetaphyseal dysplasia, Geneviève type|SEMDG|SEMD, Genevieve type|SEMD, Geneviève type|Nans deficiency|SEMD Genevieve type Orphanet:168454|UMLS:C1864872|OMIM:610442|ICD10:Q77.7|GARD:0010057|MESH:C535785|DOID:0080576 owl:Class MONDO:0013369 biolink:NamedThing hypertrophic cardiomyopathy 7 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy type 7|hypertrophic cardiomyopathy caused by mutation in TNNI3|hypertrophic cardiomyopathy 7|cardiomyopathy, familial hypertrophic, 7|cardiomyopathy, familial hypertrophic, type 7|cardiomyopathy, familial hypertrophic 7|CMH7|TNNI3 hypertrophic cardiomyopathy DOID:0110313|UMLS:C1860752|OMIM:613690 owl:Class HP:0001744 biolink:NamedThing Splenomegaly Abnormal increased size of the spleen. tmpte7i6ely_mondo_relaxed.owl Increased spleen size MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002 HP:0006269|HP:0001745 human_phenotype owl:Class HGNC:13997 biolink:NamedThing PRDM12 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:848 biolink:NamedThing Fusobacterium tmpte7i6ely_mondo_relaxed.owl Fusibacterium GC_ID:11|PMID:11931161|PMID:1715737 ncbi_taxonomy owl:Class NCBITaxon:203492 biolink:NamedThing Fusobacteriaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001335 biolink:NamedThing hypotrichosis of eyelid A hypotrichosis that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl eyelid hypotrichosis DOID:11671|ICD9:374.55|ICD10:H02.72|SCTID:70738004|UMLS:C0155214 owl:Class MONDO:0006876 biolink:NamedThing ocular tuberculosis Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. tmpte7i6ely_mondo_relaxed.owl MESH:D014392|UMLS:C0041322|ICD9:017.32|SCTID:49107007|DOID:0070344|EFO:1001070|ICD9:017.30 owl:Class GO:0014063 biolink:NamedThing negative regulation of serotonin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. tmpte7i6ely_mondo_relaxed.owl positive regulation of serotonin release|down regulation of serotonin secretion|down-regulation of serotonin secretion|inhibition of serotonin secretion|downregulation of serotonin secretion owl:Class UBERON:0003893 biolink:NamedThing capsule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021651 biolink:NamedThing synpolydactyly A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). tmpte7i6ely_mondo_relaxed.owl synpolydactyly|polysyndactyly SCTID:84598000|UMLS:C0265553|MESH:C538153|NCIT:C75003 owl:Class MONDO:0022413 biolink:NamedThing Albright-like syndrome tmpte7i6ely_mondo_relaxed.owl Albright like syndrome GARD:0000596 https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome owl:Class MONDO:0009547 biolink:NamedThing macrosomia-microphthalmia-cleft palate syndrome Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. tmpte7i6ely_mondo_relaxed.owl macrosomia with lethal microphthalmia|Teebi-Al Saleh-Hassoon syndrome|macrosomia microphthalmia cleft palate|Teebi Al-Saleh Hassoon syndrome|macrosomia with microphthalmia, lethal MESH:C537830|GARD:0000177|OMIM:248110|Orphanet:2432|ICD10:Q87.0|UMLS:C1855467 owl:Class MONDO:0045034 biolink:NamedThing infectious disease characteristic tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021125 biolink:NamedThing disease characteristic An attribute of a disease. tmpte7i6ely_mondo_relaxed.owl modifier|disease qualifier|qualifier NCIT:C41009 owl:Class MONDO:0002552 biolink:NamedThing vascular myelopathy tmpte7i6ely_mondo_relaxed.owl vascular myelopathies UMLS:C0154685|DOID:320|SCTID:29774004|ICD10:G95.1|ICD9:336.1 owl:Class NCBITaxon:118655 biolink:NamedThing Oropouche virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1933309 biolink:NamedThing Oropouche orthobunyavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:17089 biolink:NamedThing glycoprotein A compound in which a carbohydrate component is covalently bound to a protein component. tmpte7i6ely_mondo_relaxed.owl Glykoproteine|glicoproteinas|glycoproteine|glicoproteina|glycoproteines|Glycoprotein|Glykoprotein|glycoproteins owl:Class MONDO:0008727 biolink:NamedThing congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. tmpte7i6ely_mondo_relaxed.owl 3b-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|3-Beta-HSD deficiency|adrenal hyperplasia 2|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia II|HSD3B deficiency|3-beta HSD deficiency|3-Beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency|type II 3-beta-hydroxysteroid dehydrogenase deficiency|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF Orphanet:418|Orphanet:90791|SCTID:54470008|OMIM:201810|GARD:0009152|NCIT:C131088|MESH:C538236|ICD10:E25.0 owl:Class MONDO:0019593 biolink:NamedThing 46,XX disorder of sex development induced by fetal androgens excess tmpte7i6ely_mondo_relaxed.owl 46,XX DSD induced by fetal androgens excess UMLS:CN227655|Orphanet:90776|ICD10:E25.0 owl:Class MONDO:0003019 biolink:NamedThing potassium deficiency disease Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. tmpte7i6ely_mondo_relaxed.owl potassium deficiency disorder|hypokalemia|hypopotassemia SCTID:43339004|NCIT:C34939|NCIT:C37974|ICD9:276.8|HP:0002900|UMLS:C1514284|ICD10:E87.6|MESH:D007008|DOID:4500 Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT owl:Class MONDO:0007039 biolink:NamedThing neurofibromatosis type 2 A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. tmpte7i6ely_mondo_relaxed.owl acoustic schwannomas bilateral|neurofibromatosis central type|central neurofibromatosis|bilateral acoustic neurofibromatosis|NF2|acoustic neurinoma bilateral|acoustic Schwannomas, bilateral|acoustic neurofibromatosis|neurofibromatosis, central type|neurofibromatosis 2|neurofibromatosis, type 2|acoustic neurinoma, bilateral|neurofibromatosis type 2|neurofibromatosis, type II|neurofibromatosis type II UMLS:C0027832|NCIT:C3274|ICD10:Q85.0|Orphanet:637|ICD10:Q85.02|DOID:0111252|SCTID:92503002|GARD:0007193|MedDRA:10000523|OMIM:101000|MedDRA:10029271|ICD9:237.72 owl:Class MONDO:0021061 biolink:NamedThing neurofibromatosis A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. tmpte7i6ely_mondo_relaxed.owl von Reklinghausen disease|neurofibromatosis syndrome|neurofibromatosis type 2|peripheral Neurofibromatosis|acoustic neurofibromatosis|neurofibromatosis|type IV neurofibromatosis of riccardi|neurofibromatosis type IV|central Neurofibromatosis|neurofibromatosis type 4|Recklinghausen's neurofibromatosis ICD9:237.72|SCTID:92824003|ICD10:Q85.00|UMLS:C0027832|MESH:D017253|UMLS:C0162678|DOID:8712|ICD10:Q85.02|ICDO:9540/1|ICD9:237.70|NCIT:C6727|ICD9:237.71|SCTID:19133005|SCTID:92503002|ICD10:Q85.01|GARD:0010420|ICD9:237.7 owl:Class GO:0019207 biolink:NamedThing kinase regulator activity Modulates the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008348 biolink:NamedThing pulmonary nodular lymphoid hyperplasia Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. tmpte7i6ely_mondo_relaxed.owl pulmonary pseudolymphoma|pulmonary nodular lymphoid hyperplasia, familial OMIM:178610|UMLS:C1334969|Orphanet:60026|SCTID:718097008|UMLS:C1867419 owl:Class MONDO:0009077 biolink:NamedThing deafness, congenital, and familial myoclonic epilepsy tmpte7i6ely_mondo_relaxed.owl deafness, congenital, and familial myoclonic epilepsy MESH:C565649|UMLS:C1857348|OMIM:220300 owl:Class MONDO:0016617 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies tmpte7i6ely_mondo_relaxed.owl polyarthritis without rheumatoid factor with anti-nuclear antibodies|rheumatoid factor-negative JIA with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies ICD10:M08.3|Orphanet:247854 owl:Class MONDO:0019432 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset. tmpte7i6ely_mondo_relaxed.owl polyarthritis without rheumatoid factor|rheumatoid factor-negative JIA|juvenile rheumatoid factor-negative polyarthritis ICD10:M08.3|Orphanet:85408 owl:Class MONDO:0002951 biolink:NamedThing skin adenoid basal cell carcinoma A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. tmpte7i6ely_mondo_relaxed.owl skin adenoid basal cell carcinoma|adenoid basal cell carcinoma ICDO:8098/3|SCTID:402525008|DOID:4294|NCIT:C27535 Editor note: adenoid refers to histological subtype, not tonsils owl:Class MONDO:0000044 biolink:NamedThing hereditary hypophosphatemic rickets Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. tmpte7i6ely_mondo_relaxed.owl hereditary hypophosphatemic rickets GARD:0006735|ICD10:E83.3|MedDRA:10060873|OMIMPS:193100|Orphanet:437 https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets owl:Class MONDO:0000707 biolink:NamedThing diversion colitis A colitis which can occur as a complication of ileostomy or colostomy. tmpte7i6ely_mondo_relaxed.owl ICD9:558|DOID:0060187|SCTID:51290000|ICD10:K52|UMLS:C0267532|ICD9:558.9 owl:Class CHEBI:39000 biolink:NamedThing sodium channel modulator tmpte7i6ely_mondo_relaxed.owl sodium channel modulators owl:Class CHEBI:38632 biolink:NamedThing membrane transport modulator Any agent that affects the transport of molecular entities across a biological membrane. tmpte7i6ely_mondo_relaxed.owl membrane transport modulators owl:Class UBERON:0000159 biolink:NamedThing anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019855 biolink:NamedThing athyreosis Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl OMIM:218700|Orphanet:95713|ICD10:E03.1|OMIM:225250 owl:Class MONDO:0000179 biolink:NamedThing Neu-Laxova syndrome Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl NLS|Neu Laxova syndrome|nuclear localization signal OMIM:616038|ICD9:759.89|SCTID:77817004|OMIM:256520|Orphanet:2671|GARD:0000102|NCIT:C14089|UMLS:C0265218|OMIMPS:256520|ICD10:Q87.8|MESH:C536405 owl:Class MONDO:0018491 biolink:NamedThing 3-phosphoglycerate dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl UMLS:C0580190|Orphanet:422519|SCTID:303098002|ICD9:270.7 owl:Class CL:1000322 biolink:NamedThing pancreatic goblet cell A goblet cell that is part of the epithelium of pancreatic duct. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of pancreatic duct FMA:263058 cell owl:Class CL:0000083 biolink:NamedThing epithelial cell of pancreas An epithelial cell of the pancreas. tmpte7i6ely_mondo_relaxed.owl pancreas epithelial cell|pancreatic epithelial cell BTO:0000028 cell owl:Class UBERON:0004688 biolink:NamedThing costo-cervical trunk tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24200 biolink:NamedThing FAM111B tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38295 biolink:NamedThing azabicycloalkane tmpte7i6ely_mondo_relaxed.owl azabicycloalkanes owl:Class MONDO:8000002 biolink:NamedThing escherichia coli discitis Discitis caused by infection with Escherichia coli. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:693762 biolink:NamedThing Schizaeales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1521262 biolink:NamedThing Polypodiidae tmpte7i6ely_mondo_relaxed.owl Polypodiidae GC_ID:1|PMID:21652310 ncbi_taxonomy owl:Class HGNC:13797 biolink:NamedThing PRX tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03400685 biolink:NamedThing 022 tree nuts (tn) (ccpr) Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed. The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0685 http://langual.org owl:Class CL:1000505 biolink:NamedThing kidney pelvis cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001018 cell owl:Class MONDO:0015395 biolink:NamedThing congenital subglottic stenosis tmpte7i6ely_mondo_relaxed.owl SCTID:204552001|Orphanet:141121|ICD9:748.3|ICD10:Q31.1 owl:Class MONDO:0001995 biolink:NamedThing sphenoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpte7i6ely_mondo_relaxed.owl sphenoidal sinus squamous cell carcinoma|epidermoid carcinoma of sphenoidal sinus|sphenoid sinus epidermoid carcinoma|squamous cell carcinoma of sphenoidal sinus|epidermoid carcinoma of sphenoid sinus|squamous cell carcinoma of the sphenoid sinus|epidermoid carcinoma of the sphenoid sinus|squamous cell carcinoma of sphenoid sinus|sphenoidal sinus epidermoid carcinoma|sphenoid sinus squamous cell carcinoma|squamous cell carcinoma of the sphenoidal sinus|epidermoid carcinoma of the sphenoidal sinus NCIT:C6066|SCTID:707355002|UMLS:C1336039|DOID:14547 owl:Class HP:0008070 biolink:NamedThing Sparse hair Reduced density of hairs. tmpte7i6ely_mondo_relaxed.owl Sparse hair since birth|Sparse hair|Decreased hair growth on body|Thin, sparse hair|Decreased hair growth|Marked hypotrichosis|Hypotrichosis UMLS:C1837770|UMLS:C0020678|SNOMEDCT_US:56558005|MEDDRA:10021126|MSH:D007039|SNOMEDCT_US:53602002|UMLS:C1860844 This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. peter 2008-04-02T04:11:00Z HP:0004874|HP:0004525|HP:0004522|HP:0001006|HP:0002291|HP:0002237|HP:0004538|HP:0002551 human_phenotype owl:Class MONDO:0009321 biolink:NamedThing hallux varus-preaxial polysyndactyly syndrome Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. tmpte7i6ely_mondo_relaxed.owl Kleiner Holmes syndrome|Kleiner-Holmes syndrome|hallux varus and preaxial polysyndactyly UMLS:C1856197|MESH:C536885|OMIM:234280|GARD:0003118|ICD10:Q74.2|Orphanet:2110 owl:Class MONDO:0016647 biolink:NamedThing autosomal recessive Stickler syndrome A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. tmpte7i6ely_mondo_relaxed.owl Stickler syndrome, autosomal recessive Orphanet:250984|ICD10:Q87.5|OMIM:614284|UMLS:CN201875|OMIM:614134 owl:Class MONDO:0017346 biolink:NamedThing Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. tmpte7i6ely_mondo_relaxed.owl EBV Positive diffuse large B-cell lymphoma of the elderly|EBV-positive DLBCL of the elderly|age-related EBV Positive B-cell lymphoproliferative disorder|Senile EBV-associated B-cell lymphoproliferative disorder|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly|EBV-Positive diffuse large B-cell lymphoma, NOS SCTID:716788007|UMLS:C2700007|NCIT:C80281|ICDO:9680/3|ICD10:C83.3|Orphanet:289661 owl:Class MONDO:0016965 biolink:NamedThing partial duplication of the long arm of chromosome 15 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl chromosome 15q duplication|partial trisomy of the long arm of chromosome 15|15q trisomy|partial trisomy of chromosome 15q|trisomy 15q|Duplication 15q|partial trisomy 15q|15q duplication|partial duplication of chromosome 15q|partial duplication of the long arm of chromosome type 15 MESH:C538040|GARD:0005314|UMLS:C0795858|Orphanet:262950 owl:Class GO:0034220 biolink:NamedThing ion transmembrane transport A process in which an ion is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl ion membrane transport|ATP hydrolysis coupled ion transmembrane transport|transmembrane ion transport owl:Class MONDO:0014549 biolink:NamedThing lethal congenital contracture syndrome 6 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene. tmpte7i6ely_mondo_relaxed.owl LCCS6|lethal congenital contracture syndrome caused by mutation in ZBTB42|lethal congenital contracture syndrome 6|ZBTB42 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 6 UMLS:C4015686|OMIM:616248 owl:Class UBERON:0003374 biolink:NamedThing chorionic ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001023 biolink:NamedThing prolymphocytic leukemia A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. tmpte7i6ely_mondo_relaxed.owl prolymphocytic leukemia|prolymphocytic leukemia (B or T-cell)|PLL|prolymphocytic leukemia (B or T) UMLS:C0023486|NCIT:C3181|GARD:0011965|DOID:1039|MESH:D015463|ICDO:9832/3|SCTID:110006004|ICD9:204.80 owl:Class MONDO:0004549 biolink:NamedThing cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. tmpte7i6ely_mondo_relaxed.owl cork workers lung|cork-handlers' disease or lung|Suberosis|cork worker's lung|cork-handlers' lung ICD10:J67.3|ICD9:495.3|UMLS:C0152108|DOID:840|SCTID:13394002 owl:Class HGNC:9117 biolink:NamedThing PMP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010120 biolink:NamedThing thrombocytopenia 3 tmpte7i6ely_mondo_relaxed.owl thrombocytopenia, autosomal recessive, 3|THC3|thrombocytopenia 3 UMLS:C2678311|Orphanet:168629|MESH:C567487|OMIM:273900|Orphanet:268322 owl:Class CL:1000376 biolink:NamedThing Purkinje myocyte of interventricular septum A Purkinje myocyte that is part of the interventricular septum. tmpte7i6ely_mondo_relaxed.owl FMA:263182 cell owl:Class CL:0002068 biolink:NamedThing Purkinje myocyte Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter. tmpte7i6ely_mondo_relaxed.owl Purkinje cell fiber|Purkinje muscle cell|myocytus conducens cardiacus FMA:14146|BTO:0001032 tmeehan 2010-06-28T08:36:15Z cell owl:Class OBO:CHR_9606-chr1p21.3 biolink:NamedThing 1p21.3 (Human) tmpte7i6ely_mondo_relaxed.owl 99300000 94300000 hg38 owl:Class MONDO:0032651 biolink:NamedThing fibrosis, neurodegeneration, and cerebral angiomatosis tmpte7i6ely_mondo_relaxed.owl FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS|FINCA OMIM:618278 owl:Class MONDO:0002682 biolink:NamedThing cerebral ventricle cancer A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure. tmpte7i6ely_mondo_relaxed.owl malignant brain ventricle neoplasm|intraventricular tumor of brain|intraventricular brain neoplasms|intraventricular brain tumor|cerebral ventricle neoplasm|intraventricular neoplasms|brain ventricle cancer|intraventricular tumor of the brain|cancer of brain ventricle|intraventricular brain neoplasm|malignant neoplasm of brain ventricle|intraventricular neoplasm of the brain|intraventricular neoplasm of brain|brain neoplasms, intraventricular ICD10:C71.5|ICD9:191.5|EFO:0007201|DOID:3541|MESH:D002551|GARD:0006025|SCTID:126958000|NCIT:C2937 https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer owl:Class MONDO:0015792 biolink:NamedThing transient congenital hypothyroidism A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. tmpte7i6ely_mondo_relaxed.owl transient hypothyroxinemia of prematurity|THOP|hypothyroxinemia of prematurity Orphanet:178045|NCIT:C113171|UMLS:C3827793|SCTID:119181000119104 owl:Class MONDO:0018612 biolink:NamedThing congenital hypothyroidism A thyroid hormone deficiency present from birth. tmpte7i6ely_mondo_relaxed.owl fetal iodine deficiency syndrome|cretinism|infantile hypothyroidism|congenital goiter|congenital hypothyroidism|congenital hypothyroidism not due to iodine deficiency|congenital iodine deficiency syndrome OMIM:274500|ICD10:E03.0|SCTID:217710005|OMIM:218700|ICD9:269.3|ICD10:E00.1|SCTID:190268003|OMIM:274700|UMLS:C0010308|OMIM:609893|ICD10:E00.9|OMIM:274900|MESH:D003409|OMIM:275200|ICD9:759.89|OMIM:607200|ICD9:243|Orphanet:442|OMIM:275100|ICD10:E03.1|OMIM:274400|NCIT:C26734|NCIT:C98921|ICD10:E00.2|MedDRA:10010510|OMIM:225250|GARD:0001487|DOID:0050328|OMIM:614450|ICD10:E00.0 owl:Class MONDO:0020782 biolink:NamedThing chronic gingivitis Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth. tmpte7i6ely_mondo_relaxed.owl chronic gingivitis|Chronic gingivitis|Chronic Gingivitis ICD9:523.1|ICD9:523.10|UMLS:C0008684|NCIT:C34474|SCTID:72621003 owl:Class MONDO:0100394 biolink:NamedThing acute myeloid leukemia, t(1;22) Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.) tmpte7i6ely_mondo_relaxed.owl AML, t(1;22) NCIT:C175584 owl:Class NCBITaxon:10372 biolink:NamedThing Human betaherpesvirus 7 tmpte7i6ely_mondo_relaxed.owl HHV-7|Herpes simplex virus 7|Human herpesvirus type 7|human herpesvirus 7 HHV-7|Human herpesvirus 7 GC_ID:1 NCBITaxon:57277 ncbi_taxonomy owl:Class NCBITaxon:40272 biolink:NamedThing Roseolovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001588 biolink:NamedThing chronic lacrimal gland enlargement tmpte7i6ely_mondo_relaxed.owl chronic enlargement of lacrimal gland SCTID:4839005|ICD9:375.03|DOID:12809|ICD10:H04.03|UMLS:C1300133 owl:Class MONDO:0021475 biolink:NamedThing benign neoplasm of nasal cavity A benign neoplasm that involves the nasal cavity. tmpte7i6ely_mondo_relaxed.owl benign nasal cavity tumor|benign tumor of the nasal cavity|nasal cavity benign neoplasm|benign nasal cavity neoplasm|benign neoplasm of the nasal cavity|benign tumor of nasal cavity UMLS:C0347215|NCIT:C4603|ICD9:212.0|SCTID:92241005 owl:Class HGNC:8789 biolink:NamedThing PDE6G tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008440 biolink:NamedThing spastic paraplegia-nephritis-deafness syndrome This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|Fitzsimmons Walson Mellor syndrome|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy|spastic paraplegia - nephritis - deafness|spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy MESH:C537937|GARD:0002342|OMIM:182690|Orphanet:2820|UMLS:C2931667 https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome owl:Class MONDO:0001873 biolink:NamedThing geniculate ganglionitis Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. tmpte7i6ely_mondo_relaxed.owl geniculate ganglionitis|geniculate ganglion inflammation|inflammation of geniculate ganglion SCTID:72839009|DOID:14075|MESH:D005155|UMLS:C0017407|ICD10:G51.1|ICD9:351.1 owl:Class HGNC:14412 biolink:NamedThing AGXT2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032108 biolink:NamedThing negative regulation of response to nutrient levels Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. tmpte7i6ely_mondo_relaxed.owl downregulation of response to nutrient levels|down regulation of response to nutrient levels|down-regulation of response to nutrient levels|inhibition of response to nutrient levels owl:Class GO:0032105 biolink:NamedThing negative regulation of response to extracellular stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. tmpte7i6ely_mondo_relaxed.owl down regulation of response to extracellular stimulus|downregulation of response to extracellular stimulus|inhibition of response to extracellular stimulus|down-regulation of response to extracellular stimulus owl:Class MONDO:0001057 biolink:NamedThing malignant gastric granular cell tumor A metastasizing granular cell tumor that arises from the stomach. tmpte7i6ely_mondo_relaxed.owl malignant granular cell neoplasm of stomach|malignant granular cell tumor of the stomach|malignant gastric granular cell neoplasm|malignant granular cell neoplasm of the stomach|malignant granular cell stomach tumor|malignant granular cell tumor of stomach|malignant gastric granular cell tumor|malignant granular cell stomach neoplasm UMLS:C1334585|NCIT:C5484|DOID:10536 owl:Class MONDO:0001991 biolink:NamedThing malignant cardiac germ cell tumor A rare malignant germ cell tumor that arises from the pericardium. tmpte7i6ely_mondo_relaxed.owl malignant germ cell tumor of the heart|malignant germ cell neoplasm of heart|malignant heart germ cell neoplasm|malignant germ cell neoplasm of the heart|malignant heart germ cell tumor|malignant germ cell tumor of heart|malignant Cardiac germ cell neoplasm|malignant Cardiac germ cell tumor NCIT:C5371|UMLS:C1334566|DOID:14535 owl:Class UBERON:0004789 biolink:NamedThing larynx mucous gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002719 biolink:NamedThing Recurrent infections Increased susceptibility to infections. tmpte7i6ely_mondo_relaxed.owl Predisposition to infections|Frequent, severe infections|Frequent infections|Increased frequency of infection|infections, recurrent|Susceptibility to infection|Recurrent infections UMLS:C0239998 HP:0005405|HP:0002957|HP:0002964 human_phenotype owl:Class MONDO:0044314 biolink:NamedThing retinitis pigmentosa 78 tmpte7i6ely_mondo_relaxed.owl RP78|retinitis pigmentosa 78 UMLS:C4479481|Orphanet:791|OMIM:617433 owl:Class NCBITaxon:2732514 biolink:NamedThing Revtraviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732409 biolink:NamedThing Artverviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0100255 biolink:NamedThing Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions. tmpte7i6ely_mondo_relaxed.owl UMLS:C0265294|MSH:C536252|SNOMEDCT_US:27837003 doelkens 2010-07-14T05:15:56Z HP:0006427|HP:0005704|HP:0000948|HP:0005636|HP:0005002 human_phenotype owl:Class HP:0000944 biolink:NamedThing Abnormality of the metaphysis An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. tmpte7i6ely_mondo_relaxed.owl Abnormality of the wide portion of a long bone UMLS:C4025814 HP:0006506 human_phenotype owl:Class MONDO:0011448 biolink:NamedThing PPARG-related familial partial lipodystrophy tmpte7i6ely_mondo_relaxed.owl familial partial lipodystrophy type 3|familial partial lipodystrophy associated with PPARG mutations|PPARG-related FPLD|lipodystrophy, familial partial, associated with Pparg mutations|FPLD3|lipodystrophy, familial partial, type 3 DOID:0070204|GARD:0012600|Orphanet:79083|OMIM:604367|ICD10:E88.1 owl:Class MONDO:0020088 biolink:NamedThing familial partial lipodystrophy Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. tmpte7i6ely_mondo_relaxed.owl genetic partial lipodystrophy|lipodystrophy, familial partial|congenital partial lipodystrophy|Koberling-Dunnigan syndrome|FPLD ICD10:E88.1|GARD:0011962|OMIMPS:151660|NCIT:C84708|OMIM:604367|SCTID:49292002|OMIM:615238|OMIM:613877|DOID:0050440|UMLS:C0271694|OMIM:151660|OMIM:608600|Orphanet:98306|MESH:D052496 owl:Class GO:0090023 biolink:NamedThing positive regulation of neutrophil chemotaxis Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003422 biolink:NamedThing mesenchyme of umbilical cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003430 biolink:NamedThing prolactin producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin. tmpte7i6ely_mondo_relaxed.owl prolactin secreting neoplasm of the pituitary|prolactin producing tumor of pituitary|PRL producing pituitary gland neoplasm|prolactin producing pituitary tumour|prolactin-producing pituitary gland neoplasm|prolactin secreting pituitary tumor|prolactin secreting tumor of the pituitary|prolactin producing neoplasm of the pituitary gland|prolactin-producing pituitary gland tumor|prolactin secreting neoplasm of pituitary gland|malignant prolactinoma|prolactin producing tumor of the pituitary gland|prolactin secreting neoplasm of the pituitary gland|prolactin producing pituitary gland tumor|prolactin producing pituitary tumor|prolactin secreting pituitary gland neoplasm|prolactin producing pituitary gland neoplasm|prolactin producing tumor of pituitary gland|prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of the pituitary gland|prolactin producing neoplasm of the pituitary|malignant prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of pituitary|prolactin secreting pituitary neoplasm|prolactin producing neoplasm of pituitary|prolactin secreting tumor of pituitary gland|prolactin producing pituitary neoplasm|prolactin secreting neoplasm of pituitary|prolactin secreting pituitary gland tumor|prolactin producing tumor of the pituitary UMLS:C1334614|UMLS:C0278863|NCIT:C5962|DOID:5396|NCIT:C7910 owl:Class CHEBI:36587 biolink:NamedThing organic oxo compound Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. tmpte7i6ely_mondo_relaxed.owl organic oxo compounds|oxo compounds owl:Class OBO:CHR_9606-chr16q22 biolink:NamedThing 16q22 (Human) tmpte7i6ely_mondo_relaxed.owl 74100000 66600000 hg38 owl:Class MONDO:0033646 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 12 tmpte7i6ely_mondo_relaxed.owl MC4DN12 OMIM:619055 owl:Class MONDO:0016883 biolink:NamedThing partial deletion of the short arm of chromosome 1 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl loss of chromosome 1p|deletion 1p|1p monosomy|del(1p)|partial monosomy of chromosome 1p|partial deletion of the short arm of chromosome type 1|chromosome 1p deletion|partial monosomy of the short arm of chromosome 1|partial deletion of chromosome 1p|partial monosomy 1p|monosomy 1p|1p deletion ICD10:Q93.5|GARD:0003730|UMLS:C0795796|NCIT:C36501|MESH:C535591|Orphanet:261857 owl:Class MONDO:0014099 biolink:NamedThing nephrotic syndrome, type 8 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 8|ARHGDIA nephrotic syndrome|NPHS8|nephrotic syndrome caused by mutation in ARHGDIA DOID:0080389|UMLS:C3808953|Orphanet:656|OMIM:615244 owl:Class MONDO:0019006 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. tmpte7i6ely_mondo_relaxed.owl familial idiopathic nephrotic syndrome OMIM:616892|OMIM:615244|UMLS:C1868672|SCTID:718141008|OMIM:610725|OMIM:256370|OMIM:616032|ICD10:N04.3|OMIM:613237|OMIM:616002|OMIM:616220|OMIM:614196|OMIM:603965|OMIM:615861|OMIM:607832|Orphanet:656|OMIM:614131|OMIM:615573|OMIM:603278|OMIM:616730|OMIM:616893|UMLS:CN536255|UMLS:C4273714|ICD10:N04.1|ICD10:N04.8|OMIM:600995 owl:Class MONDO:0004396 biolink:NamedThing cervical spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the cervical region of the spinal cord. tmpte7i6ely_mondo_relaxed.owl meningioma of cervical spinal canal and spinal cord|cervical intraspinal meningioma|meningioma of the cervical spinal canal and spinal cord DOID:7915|NCIT:C5296|UMLS:C1332916 owl:Class MONDO:0012216 biolink:NamedThing foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome tmpte7i6ely_mondo_relaxed.owl FVH2|FHONDA syndrome|foveal hypoplasia 2|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|foveal hypoplasia type 2|foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome ICD10:Q15.8|Orphanet:397618|OMIM:609218|MESH:C563774 owl:Class MONDO:0020238 biolink:NamedThing inherited vitreous-retinal disease tmpte7i6ely_mondo_relaxed.owl genetic vitreous-retinal disease|genetic vitreoretinal disease Orphanet:98657|UMLS:CN207063 owl:Class CL:2000043 biolink:NamedThing brain pericyte Any pericyte cell that is part of a brain. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-07-09T00:18:22Z cell owl:Class MONDO:0020937 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:178110 owl:Class UBERON:0009526 biolink:NamedThing maxillary process mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009168 biolink:NamedThing purine ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleoside monophosphate biosynthesis|purine ribonucleoside monophosphate synthesis|purine ribonucleoside monophosphate anabolism|purine ribonucleoside monophosphate formation owl:Class MONDO:0011713 biolink:NamedThing melanoma-pancreatic cancer syndrome tmpte7i6ely_mondo_relaxed.owl familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome OMIM:606719|Orphanet:404560 owl:Class MONDO:0700087 biolink:NamedThing Usher syndrome type 1B Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene tmpte7i6ely_mondo_relaxed.owl MESH:C536485|OMIM:276900 owl:Class CHEBI:2571 biolink:NamedThing aliphatic alcohol An alcohol derived from an aliphatic compound. tmpte7i6ely_mondo_relaxed.owl an aliphatic alcohol|aliphatic alcohols|Aliphatic alcohol owl:Class MONDO:0015030 biolink:NamedThing sclerosing perineurioma tmpte7i6ely_mondo_relaxed.owl Orphanet:100001|UMLS:CN197320 owl:Class MONDO:0011891 biolink:NamedThing febrile seizures, familial, 8 A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. tmpte7i6ely_mondo_relaxed.owl Gefs+, type 3|GABRG2 childhood absence epilepsy|generalized epilepsy with febrile seizures plus, type 3|epilepsy, childhood absence, susceptibility to, 2|GEFSP3|epilepsy, childhood absence, susceptibility to, type 2|ECA2|susceptibility to childhood absence epilepsy 2|GABRG2 generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|childhood absence epilepsy caused by mutation in GABRG2 Orphanet:36387|MESH:C565811|OMIM:607681|Orphanet:64280|UMLS:C1858674|OMIM:611277|DOID:0111298|UMLS:C1843244 owl:Class MONDO:0033045 biolink:NamedThing orofaciodigital syndrome 16 tmpte7i6ely_mondo_relaxed.owl Ofds 16|orofaciodigital syndrome XVI|OFD16|oral-Facial-digital syndrome, type 16 DOID:0080254|UMLS:CN317535|OMIM:617563 owl:Class MONDO:0001918 biolink:NamedThing epiphora due to excess lacrimation tmpte7i6ely_mondo_relaxed.owl ICD10:H04.21|SCTID:31788005|ICD9:375.21|DOID:14244|UMLS:C0155233 owl:Class MONDO:0001793 biolink:NamedThing excessive tearing Diseases of the lacrimal apparatus. tmpte7i6ely_mondo_relaxed.owl excessive tear production|lacrimal apparatus disease|apparatus diseases, lacrimal|apparatus disease, lacrimal|epiphora|diseases, lacrimal apparatus|disease, lacrimal apparatus|watering eye DOID:13757|NCIT:C50552|MESH:D007766|ICD9:375.2|ICD9:375.20|ICD10:H04.20|UMLS:C0152227|ICD10:H04.2|SCTID:193982009 owl:Class MONDO:0010497 biolink:NamedThing intellectual disability, X-linked 102 An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked type 102|DDX3X-related intellectual disability|mental retardation, X-linked 102|MRX102|non-syndromic X-linked intellectual disability caused by mutation in DDX3X|mental retardation, X-linked type 102|DDX3X non-syndromic X-linked intellectual disability|intellectual disability, X-linked 102 NCIT:C129931|OMIM:300958|GARD:0012715|UMLS:C4085582 owl:Class NCBITaxon:333774 biolink:NamedThing unclassified Papillomaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:151340 biolink:NamedThing Papillomaviridae tmpte7i6ely_mondo_relaxed.owl Papillomavirus GC_ID:1|PMID:20206957 ncbi_taxonomy owl:Class MONDO:0019107 biolink:NamedThing Rh deficiency syndrome The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl Rh-Mod|Rh-null syndrome|Rh-null disease, regulator type|Rh-null hemolytic Anemia, regulator type|Rh deficiency syndrome|RHN|Rh-null disease|RH-null, regulator type|RHNR DOID:0050641|UMLS:C0272052|Orphanet:71275|UMLS:C1849387|SCTID:37272000|OMIM:268150|GARD:0012916|ICD10:D58.8 https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome owl:Class ENVO:02000100 biolink:NamedThing mineral dust Dust which is derived from mineral material. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000256 biolink:NamedThing mineral material A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011594 biolink:NamedThing dentary tooth tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4913 biolink:NamedThing HIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009870 biolink:NamedThing pili torti Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome. tmpte7i6ely_mondo_relaxed.owl pili torti|pili torti (disease)|coarse, dry, lusterless hair which breaks off easily|pili torti, early-onset|twisted hair|pili torti, Ronchese type pili torti (disease) Orphanet:2889|GARD:0004361|SCTID:17170005|HP:0003777|OMIM:261900|MESH:C562485|ICD10:Q84.1 owl:Class MONDO:0016651 biolink:NamedThing maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpte7i6ely_mondo_relaxed.owl UPD(1)mat|maternal uniparental disomy of chromosome type 1 Orphanet:251009|ICD10:Q99.8 owl:Class MONDO:0006647 biolink:NamedThing anterior cerebral artery infarction Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. tmpte7i6ely_mondo_relaxed.owl DOID:3528|UMLS:C0751843|MESH:D020243|EFO:1000807 owl:Class MONDO:0003473 biolink:NamedThing spinal cord ependymoma An ependymoma that arises from the spinal cord. tmpte7i6ely_mondo_relaxed.owl ependymoma of the spinal cord|ependymal neoplasm of the spinal cord|ependymoma of spinal cord|spinal cord ependymoma SCTID:254949006|NCIT:C3875|DOID:5503|UMLS:C0238432 MONDO:0021544 owl:Class MONDO:0030308 biolink:NamedThing immunodeficiency 82 with systemic inflammation tmpte7i6ely_mondo_relaxed.owl IMD82|immunodeficiency 82 with systemic inflammation OMIM:619381 owl:Class MONDO:0008022 biolink:NamedThing muscle cramps, familial tmpte7i6ely_mondo_relaxed.owl muscle cramps, familial UMLS:C1834708|OMIM:158400|MESH:C563563 owl:Class MONDO:0009636 biolink:NamedThing mitochondrial DNA depletion syndrome 3 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome type 3|MTDPS3|DGUOK mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in DGUOK|mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|mitochondrial DNA depletion syndrome 3|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934|UMLS:C3151513|OMIM:251880|DOID:0080121|UMLS:C4310935 owl:Class CL:0002153 biolink:NamedThing corneocyte The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus. tmpte7i6ely_mondo_relaxed.owl FMA:68650|BTO:0001943 tmeehan 2010-08-24T10:53:03Z cell owl:Class CL:0000311 biolink:NamedThing keratin accumulating cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:9461 biolink:NamedThing PRPH tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000588 biolink:NamedThing vestigial A quality inhering in a bearer by virtue of the bearer's being a remnant structure from earlier development or evolution. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006757 biolink:NamedThing extrahepatic cholestasis Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. tmpte7i6ely_mondo_relaxed.owl extrahepatic biliary stasis|extrahepatic obstructive biliary disease|extrahepatic cholestasis (finding)|cholestasis of extrahepatic bile duct|extrahepatic bile duct cholestasis DOID:13619|NCIT:C34420|SCTID:8262006|EFO:1000933|MedDRA:10008637|UMLS:C0005398|MESH:D001651 owl:Class MONDO:0011281 biolink:NamedThing congenital myasthenic syndrome 5 Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl end plate acetylcholinesterase deficiency|congenital myasthenic syndrome type Ic, formerly|congenital myasthenic syndrome caused by mutation in COLQ|congenital myasthenic syndrome 5|CMS Ic|CMS5|Cms Ic, formerly|myasthenic syndrome, congenital, type 5|EAD|myasthenic syndrome, congenital, Engel type|congenital myasthenic syndrome type Ic|congenital myasthenic syndrome type 5|congenital myasthenic syndrome Engel type|Cms Ic|Engel congenital myasthenic syndrome|COLQ congenital myasthenic syndrome|myasthenic syndrome, congenital, 5|endplate acetylcholinesterase deficiency UMLS:C1864233|MESH:C566415|NCIT:C129304|OMIM:603034|DOID:0110667|Orphanet:98915|Orphanet:590 owl:Class MONDO:0020346 biolink:NamedThing synaptic congenital myasthenic syndrome tmpte7i6ely_mondo_relaxed.owl synaptic congenital myasthenic syndromes OMIM:603034|Orphanet:98915|ICD10:G70.2 owl:Class MONDO:0008305 biolink:NamedThing Currarino triad Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). tmpte7i6ely_mondo_relaxed.owl Scra1|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|Currarino triad|sacral agenesis syndrome|CURRARINO syndrome|Currarino syndrome|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation Orphanet:1552|OMIM:176450|GARD:0001626|UMLS:C1867774|ICD10:Q87.8|MESH:C536221|ICD9:759.89|UMLS:C1531773|DOID:0111546|SCTID:413936007 owl:Class HP:0012393 biolink:NamedThing Allergy An allergy is an immune response or reaction to substances that are usually not harmful. tmpte7i6ely_mondo_relaxed.owl Allergy UMLS:C1527304|MSH:D006967|SNOMEDCT_US:419076005 peter 2013-11-07T07:47:22Z human_phenotype owl:Class MONDO:0000937 biolink:NamedThing syphilitic encephalitis An encephalitis caused by infection with Treponema. tmpte7i6ely_mondo_relaxed.owl Treponema encephalitis|Treponema caused encephalitis SCTID:26135000|UMLS:C0153168|ICD9:094.81|DOID:10081 owl:Class MONDO:0017578 biolink:NamedThing disorder of thiamine metabolism and transport tmpte7i6ely_mondo_relaxed.owl UMLS:CN227150|Orphanet:298644 owl:Class MONDO:0012907 biolink:NamedThing blindness - scoliosis - arachnodactyly syndrome This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. tmpte7i6ely_mondo_relaxed.owl scoliosis, arachnodactyly, and blindness SCTID:717920004|MESH:C567309|OMIM:612445|Orphanet:171844|UMLS:C2676234 owl:Class CHEBI:35507 biolink:NamedThing natural product fundamental parent tmpte7i6ely_mondo_relaxed.owl natural product fundamental parents owl:Class CHEBI:33245 biolink:NamedThing organic fundamental parent An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. tmpte7i6ely_mondo_relaxed.owl organic parent hydrides|organic fundamental parents owl:Class MONDO:0016373 biolink:NamedThing isolated facial myokymia tmpte7i6ely_mondo_relaxed.owl Orphanet:221106|ICD10:G51.4 Editor note: todo check MESH owl:Class MONDO:0001127 biolink:NamedThing tibialis tendinitis A tendinitis that involves the tibialis. tmpte7i6ely_mondo_relaxed.owl tendinitis of tibialis|tibialis tendinitis SCTID:50127006|ICD9:726.72|UMLS:C0158321|DOID:10810 owl:Class MONDO:0008291 biolink:NamedThing porokeratosis plantaris palmaris et disseminata Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. tmpte7i6ely_mondo_relaxed.owl porokeratosis, palmar, plantar, and disseminated|POROK2|palmar, plantar and disseminated porokeratosis|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis plantaris palmaris et disseminata|porokeratosis palmaris Et plantaris disseminata|porokeratosis 2, palmar, plantar, and disseminated type ICD10:Q82.8|Orphanet:737|OMIM:175850|SCTID:718218005 owl:Class MONDO:0006602 biolink:NamedThing porokeratosis A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. tmpte7i6ely_mondo_relaxed.owl porokeratosis|porokeratosis (disease) porokeratosis (disease) ICD9:757.39|SCTID:80432009|ICD10:Q82.8|EFO:1000757|SCTID:400080004|UMLS:C0162839|Wikipedia:Porokeratosis|ICD9:692.75|HP:0200044|NCIT:C85019|OMIM:175800|SCTID:41495000|OMIMPS:175800|DOID:3805|MedDRA:10036175|ICD10:L56.5|Orphanet:79358 owl:Class CL:0000791 biolink:NamedThing mature alpha-beta T cell A alpha-beta T cell that has a mature phenotype. tmpte7i6ely_mondo_relaxed.owl mature alpha-beta T-cell|mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte cell owl:Class CL:0000789 biolink:NamedThing alpha-beta T cell A T cell that expresses an alpha-beta T cell receptor complex. tmpte7i6ely_mondo_relaxed.owl alpha-beta T-lymphocyte|alpha-beta T-cell|alpha-beta T lymphocyte cell owl:Class MONDO:0009386 biolink:NamedThing hyperlexia tmpte7i6ely_mondo_relaxed.owl precocious reading|compulsive reading|hyperlexia OMIM:238350|MESH:C565500 owl:Class MONDO:0019123 biolink:NamedThing continuous spikes and waves during sleep Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy with continuous spike-and-wave during slow sleep|CSWSS syndrome|CSWS|continuous spikes and waves during slow-wave sleep ICD10:F80.3|UMLS:CN205644|Orphanet:725|UMLS:CN181337|UMLS:C3806403|OMIM:245570 owl:Class MONDO:0009509 biolink:NamedThing Landau-Kleffner syndrome Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. tmpte7i6ely_mondo_relaxed.owl Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|acquired epileptic aphasia|acquired aphasia with convulsive disorder|acquired epileptiform aphasia|continuous Spike and waves during slow-Wave sleep syndrome|FESD|Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|aphasia, acquired, with epilepsy|epilepsy, focal, with speech disorder and with or without intellectual disability|LKS|epilepsy, focal, with speech disorder and with or without mental retardation|Landau-Kleffner syndrome|benign epilepsy of childhood with centrotemporal spikes ICD10:G40.8|Orphanet:725|UMLS:C0282512|Orphanet:163721|UMLS:C3806403|GARD:0006855|NCIT:C84806|Orphanet:98818|Orphanet:1945|OMIM:245570|EFO:1001010|MedDRA:10052075|MESH:D018887|MedDRA:10052083|SCTID:230438007|DOID:2538 https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome owl:Class MONDO:0018108 biolink:NamedThing idiopathic disseminated cytomegalovirus infection tmpte7i6ely_mondo_relaxed.owl idiopathic disseminated CMV infection UMLS:CN204469|ICD10:B25.8|Orphanet:35062 owl:Class MONDO:0005132 biolink:NamedThing cytomegalovirus infection A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. tmpte7i6ely_mondo_relaxed.owl CMV infection|HCMV infection|Cytomegaloviral infection MESH:D003586|NCIT:C53649|EFO:0001062|NCIT:C112314|ICD9:078.5|SCTID:28944009|UMLS:C0010823 owl:Class MONDO:0019558 biolink:NamedThing discoid lupus erythematosus A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). tmpte7i6ely_mondo_relaxed.owl DLE UMLS:C0024138|SCTID:200938002|ICD10:L93.0|MESH:D008179|MedDRA:10013072|Orphanet:90281|NCIT:C26820 owl:Class MONDO:0015574 biolink:NamedThing chronic cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. tmpte7i6ely_mondo_relaxed.owl cutaneous lupus erythematosus, chronic ICD10:L93.2|MedDRA:10057929|UMLS:CN226705|ICD10:L93.0|Orphanet:163531 owl:Class GO:0016052 biolink:NamedThing carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpte7i6ely_mondo_relaxed.owl catabolic carbohydrate metabolic process|carbohydrate breakdown|carbohydrate degradation|carbohydrate catabolism|multicellular organismal carbohydrate catabolic process|single-organism carbohydrate catabolic process|catabolic carbohydrate metabolism owl:Class MONDO:0010444 biolink:NamedThing X-linked dyserythropoetic anemia with abnormal platelets and neutropenia tmpte7i6ely_mondo_relaxed.owl XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities OMIM:300835|Orphanet:363727|ICD10:D64.4 owl:Class MONDO:0100089 biolink:NamedThing GATA1-Related X-Linked Cytopenia X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia. tmpte7i6ely_mondo_relaxed.owl GATA1-Related X-Linked Cytopenia|GATA1-Related Cytopenia http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020577 biolink:NamedThing childhood gonadal germ cell tumor A germ cell tumor that arises from the testis or ovary and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl gonadal germ cell tumor of childhood|pediatric gonadal germ cell tumor|childhood gonadal germ cell tumor NCIT:C114801|UMLS:C3899657 owl:Class MONDO:0010771 biolink:NamedThing histiocytoid cardiomyopathy Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. tmpte7i6ely_mondo_relaxed.owl isolated Cardiac lipidosis|histiocytoid cardiomyopathy|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|Arachnocytosis of the myocardium|cardiomyopathy, oncocytic|Purkinje cell hamartoma|infantile cardiomyopathy with histiocytoid change|infantile histiocytoid cardiomyopathy|foamy myocardial transformation of infancy|myocardial hamartoma|cardiomyopathy, infantile histiocytoid|cardiomyopathy, focal Lipid|focal lipid cardiomyopathy|infantile xanthomatous cardiomyopathy|congenital cardiomyopathy OMIM:500000|OMIM:212080|Orphanet:137675|UMLS:C1708371|GARD:0009511|UMLS:CN239812|MESH:C535584|DOID:0080198|ICD10:I42.0|NCIT:C45745 https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy owl:Class MONDO:0030013 biolink:NamedThing immunodeficiency 66 tmpte7i6ely_mondo_relaxed.owl immunodeficiency 66|IMD66|IMMUNODEFICIENCY 66 OMIM:618847 owl:Class MONDO:0042975 biolink:NamedThing pseudoachondroplastic dysplasia 2 tmpte7i6ely_mondo_relaxed.owl recessive pseudoachondroplasia|pseudoachondroplastic dysplasia 2|spondyloepiphyseal dysplasia pseudoachondroplastic 2 UMLS:C2931030|MEDGEN:418965|MESH:C535820|GARD:0004542 owl:Class UBERON:0011976 biolink:NamedThing epiphysis of distal phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006258 biolink:NamedThing juvenile polyp A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpte7i6ely_mondo_relaxed.owl juvenile polyp|retention polyp NCIT:C3826|EFO:1000310|UMLS:C0221273 owl:Class GO:0051799 biolink:NamedThing negative regulation of hair follicle development Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development. tmpte7i6ely_mondo_relaxed.owl downregulation of hair follicle development|inhibition of hair follicle development|down-regulation of hair follicle development|down regulation of hair follicle development owl:Class GO:0051797 biolink:NamedThing regulation of hair follicle development Any process that modulates the frequency, rate or extent of hair follicle development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010726 biolink:NamedThing Rett syndrome Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. tmpte7i6ely_mondo_relaxed.owl Rett syndrome, atypical|RTT|Rts|autism, dementia, ataxia, and loss of purposeful hand use|cerebroatrophic hyperammonemia|Rett's disorder|Rett syndrome|Rett syndrome, preserved speech variant|Rett syndrome, Zappella variant GARD:0005696|MedDRA:10039000|NCIT:C75488|UMLS:C2748910|MESH:D015518|OMIM:312750|ICD9:330.8|ICD10:F84.2|DOID:1206|UMLS:C0035372|Orphanet:778|Orphanet:3095|SCTID:68618008|OMIM:613454 owl:Class MONDO:0017656 biolink:NamedThing motor stereotypies tmpte7i6ely_mondo_relaxed.owl Orphanet:306765 owl:Class HGNC:7104 biolink:NamedThing MIPEP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002444 biolink:NamedThing myeloid leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. tmpte7i6ely_mondo_relaxed.owl myeloid leucocyte mediated immunity|myeloid leukocyte immune effector process|myeloid leucocyte immune effector process owl:Class GO:0002443 biolink:NamedThing leukocyte mediated immunity Any process involved in the carrying out of an immune response by a leukocyte. tmpte7i6ely_mondo_relaxed.owl cell-mediated immune response|leucocyte mediated immunity|leucocyte immune effector process|cellular immune response|leukocyte immune effector process|immune cell effector process|immune cell mediated immunity owl:Class UBERON:0001275 biolink:NamedThing pubis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018021 biolink:NamedThing hypotrichosis-deafness syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:H90.5|Orphanet:330029|UMLS:CN204237 owl:Class ENVO:01001044 biolink:NamedThing soil environment An environmental system which has its properties and dynamics determined by soil. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005635 biolink:NamedThing adenomyoma A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy. tmpte7i6ely_mondo_relaxed.owl adenomyoma (morphologic abnormality)|adenomyoma|adenomyoma, benign UMLS:C0206622|MESH:D018194|DOID:2609|ICDO:8932/0|EFO:0007133|NCIT:C3726 owl:Class MONDO:0016599 biolink:NamedThing autosomal dominant secondary polycythemia Autosomal dominant form of secondary polycythemia. tmpte7i6ely_mondo_relaxed.owl autosomal dominant secondary erythrocytosis|secondary polycythemia, autosomal dominant ICD10:D75.1|OMIM:609820|UMLS:CN201790|OMIM:611783|Orphanet:247511 owl:Class MONDO:0000920 biolink:NamedThing duodenum cancer A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the duodenum|malignant tumor of the duodenum|duodenal cancer|malignant duodenal neoplasm|malignant duodenal tumor|malignant neoplasm of duodenum|cancer of duodenum|duodenum cancer|malignant duodenum neoplasm|malignant tumor of duodenum SCTID:363403002|ICD10:C17.0|MESH:D004379|NCIT:C9328|SCTID:254570009|NCIT:C4803|ICD9:152.0|DOID:10021 owl:Class MONDO:0000956 biolink:NamedThing small intestine cancer A primary or metastatic malignant neoplasm involving the small intestine. tmpte7i6ely_mondo_relaxed.owl malignant small intestinal neoplasm|malignant tumor of small bowel|malignant small bowel neoplasm|malignant small bowel tumor|malignant small intestine tumor|malignant neoplasm of small intestine|small intestine cancer|malignant neoplasm of the small bowel|malignant neoplasm of the small intestine|malignant small intestine neoplasm|malignant tumor of the small bowel|malignant tumor of the small intestine|cancer of small intestine|malignant neoplasm of small bowel|malignant neoplasms of the small intestine|small bowel tumors|malignant tumor of small intestine ICD9:152.9|GARD:0009385|DOID:10154|NCIT:C7523|UMLS:C0153425|ICD10:C17.9|ICD10:C17 https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer owl:Class MONDO:0016837 biolink:NamedThing 16p13.11 microduplication syndrome 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl trisomy 16p13.11|dup(16)(p13.11) ICD10:Q92.3|SCTID:719578005|GARD:0013392|UMLS:CN202173|UMLS:C4304595|Orphanet:261243 https://rarediseases.info.nih.gov/diseases/13392/16p1311-microduplication-syndrome owl:Class MONDO:0018341 biolink:NamedThing 3q27.3 microdeletion syndrome 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. tmpte7i6ely_mondo_relaxed.owl Del(3)(q27.3) UMLS:CN225942|ICD10:Q93.5|Orphanet:397695 owl:Class MONDO:0004309 biolink:NamedThing sarcomatosis The occurrence of several sarcomas in different anatomic locations. tmpte7i6ely_mondo_relaxed.owl sarcomatosis (morphologic abnormality)|sarcomatosis|sarcomatosis NOS (morphologic abnormality) UMLS:C0334451|DOID:7615|ICDO:8800/9|NCIT:C4243 owl:Class MONDO:0002285 biolink:NamedThing pupil disorder A disease involving the pupil. tmpte7i6ely_mondo_relaxed.owl disease of pupil|disorder of pupil|pupillary disorder|disease or disorder of pupil|pupil disease or disorder|pupil disease UMLS:C0034124|SCTID:68633000|DOID:238 owl:Class HGNC:7501 biolink:NamedThing MT-TW tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000858 biolink:NamedThing Irregular menstruation Abnormally high variation in the amount of time between periods. tmpte7i6ely_mondo_relaxed.owl Irregular periods|Menstrual irregularity|Menstrual irregularities|Irregular menses SNOMEDCT_US:80182007|UMLS:C0156404 Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. human_phenotype owl:Class HGNC:1394 biolink:NamedThing CACNA1G tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001431 biolink:NamedThing kidney collecting duct principal cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001128 cell owl:Class CL:1000454 biolink:NamedThing kidney collecting duct epithelial cell An epithelial cell that is part of the collecting duct of renal tubule. tmpte7i6ely_mondo_relaxed.owl epithelial cell of renal collecting tubule KUPO:0001059|FMA:70982 cell owl:Class GO:0045717 biolink:NamedThing negative regulation of fatty acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. tmpte7i6ely_mondo_relaxed.owl negative regulation of fatty acid biosynthesis|down regulation of fatty acid biosynthetic process|negative regulation of fatty acid formation|downregulation of fatty acid biosynthetic process|negative regulation of fatty acid anabolism|down-regulation of fatty acid biosynthetic process|negative regulation of fatty acid synthesis|inhibition of fatty acid biosynthetic process owl:Class GO:0051055 biolink:NamedThing negative regulation of lipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpte7i6ely_mondo_relaxed.owl down regulation of lipid biosynthetic process|negative regulation of lipogenesis|down-regulation of lipid biosynthetic process|inhibition of lipid biosynthetic process|negative regulation of lipid biosynthesis|downregulation of lipid biosynthetic process|negative regulation of lipid anabolism|negative regulation of lipid synthesis|negative regulation of lipid formation owl:Class MONDO:0013024 biolink:NamedThing chronic thromboembolic pulmonary hypertension Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure. tmpte7i6ely_mondo_relaxed.owl Cteph, Dvt-negative, susceptibility to|CTEPH|pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to UMLS:C2363973|ICD9:415.19|GARD:0013124|OMIM:612862|MedDRA:10068739|ICD9:416.8|SCTID:233947005|Orphanet:70591 https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension owl:Class MONDO:0015378 biolink:NamedThing fourth branchial cleft anomaly tmpte7i6ely_mondo_relaxed.owl fourth branchial cleft cyst|fourth branchial cleft fistula SCTID:707234001|ICD10:Q18.0|Orphanet:141037 owl:Class MONDO:0015476 biolink:NamedThing cysts and fistulae of the face and oral cavity tmpte7i6ely_mondo_relaxed.owl Orphanet:155835|ICD10:Q18.0 owl:Class GO:0009792 biolink:NamedThing embryo development ending in birth or egg hatching The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. tmpte7i6ely_mondo_relaxed.owl embryogenesis owl:Class UBERON:0014876 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010886 biolink:NamedThing 2q37 microdeletion syndrome Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Albright hereditary osteodystrophy-like syndrome|Albright hereditary osteodystrophy type 3|2q37 microdeletion syndrome|chromosome 2q37 deletion syndrome|deletion 2q37|2q37 deletion syndrome|monosomy 2q37-qter|Del(2)(q37)|brachydactyly-mental retardation syndrome|deletion 2q37-qter|brachydactyly mental retardation syndrome|BDMR|brachydactyly-intellectual disability syndrome|brachydactyly intellectual disability syndrome GARD:0010202|ICD10:Q93.5|DOID:0111704|MESH:C538317|UMLS:C2931817|SCTID:702357000|OMIM:600430|ICD9:758.39|Orphanet:1001|NCIT:C129021 owl:Class HGNC:9414 biolink:NamedThing PRKG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021180 biolink:NamedThing acquired xanthinuria Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy. tmpte7i6ely_mondo_relaxed.owl acquired xanthinuria owl:Class MONDO:0005512 biolink:NamedThing malignant peritoneal mesothelioma An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. tmpte7i6ely_mondo_relaxed.owl peritoneal mesothelioma|advanced malignant mesothelioma of the peritoneum|malignant mesothelioma of peritoneum|advanced malignant mesothelioma of peritoneum|diffuse malignant peritoneal mesothelioma|peritoneum malignant mesothelioma (disease)|malignant peritoneal mesothelioma, advanced|advanced peritoneal malignant mesothelioma|peritoneal mesothelioma (disease), malignant|primary malignant peritoneal mesothelioma|advanced malignant peritoneal mesothelioma|malignant mesothelioma (disease) of peritoneum ICD10:C45.1|EFO:0005567|DOID:1788|MedDRA:10056558|NCIT:C8704|Orphanet:168811 owl:Class MONDO:0019921 biolink:NamedThing paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. tmpte7i6ely_mondo_relaxed.owl paternal uniparental disomy of chromosome type 6|UPD(6)pat ICD10:Q99.8|Orphanet:96191 owl:Class GO:0051056 biolink:NamedThing regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. tmpte7i6ely_mondo_relaxed.owl regulation of small GTPase-mediated signal transduction owl:Class GO:1902531 biolink:NamedThing regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. tmpte7i6ely_mondo_relaxed.owl regulation of intracellular signaling chain|regulation of intracellular signaling pathway|regulation of signal transmission via intracellular cascade|regulation of intracellular signaling cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signal transduction pathway|regulation of intracellular protein kinase cascade owl:Class HGNC:9879 biolink:NamedThing RASGRP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001946 biolink:NamedThing hyperestrogenism Abnormally high level of estrogen. tmpte7i6ely_mondo_relaxed.owl estrogen Excess|hyperestrogenism SCTID:37295009|NCIT:C113344|UMLS:C0154209|ICD10:E28.0|ICD9:256.0|EFO:0009004|DOID:14336 Editor note: consider obsoleting and replacing with HPO class. Note the equivalent class in NCIT is a finding. owl:Class MONDO:0005344 biolink:NamedThing hepatitis B virus infection A viral infection caused by the hepatitis B virus. tmpte7i6ely_mondo_relaxed.owl viral Hepatitis B|serum hepatitis|Hepatitis B|Hepatitis B virus caused hepatitis|Hepatitis B infection|hepatitis B infection|Hepatitis B virus hepatitis|hepatitis type B|chronic hepatitis B MESH:D019694|EFO:0004197|SCTID:66071002|DOID:2043|UMLS:C0019163|ICD9:070.30|MESH:D006509|NCIT:C3097 owl:Class GO:1903706 biolink:NamedThing regulation of hemopoiesis Any process that modulates the frequency, rate or extent of hemopoiesis. tmpte7i6ely_mondo_relaxed.owl regulation of blood cell formation|regulation of haemopoiesis|regulation of blood cell biosynthesis|regulation of hematopoiesis owl:Class MONDO:0002297 biolink:NamedThing epidermal appendage tumor A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. tmpte7i6ely_mondo_relaxed.owl tumor of the skin appendage|tumor of Epidermal appendage|adnexal neoplasm of the skin|adnexal neoplasm of skin|cutaneous appendage neoplasm (disease)|cutaneous adnexal neoplasm|cutaneous appendage tumor|neoplasm of cutaneous appendage|neoplasm of Epidermal appendage|adnexal tumor of skin|neoplasm of skin appendage|adnexal tumor of the skin|Epidermal appendage tumor|tumor of skin appendage|tumor of cutaneous appendage|skin appendage neoplasm|skin appendage tumour|Epidermal appendage neoplasm|skin appendage tumor|neoplasm of skin with adnexal differentiation|neoplasm of the skin appendage|cutaneous appendage neoplasm SCTID:126489007|UMLS:C0345988|ICD9:239.2|NCIT:C4463|DOID:2433 owl:Class MONDO:0017709 biolink:NamedThing disorder of lipid absorption and transport tmpte7i6ely_mondo_relaxed.owl Orphanet:309028|UMLS:CN227181 owl:Class MONDO:0018126 biolink:NamedThing progressive myoclonic epilepsy with dystonia A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. tmpte7i6ely_mondo_relaxed.owl PMED|progressive myoclonus epilepsy with dystonia ICD10:G40.3|SCTID:763349002|Orphanet:352596|OMIM:615338 owl:Class MONDO:0020071 biolink:NamedThing infantile epilepsy syndrome A epilepsy syndrome that occurs between 28 days to one year of life.. tmpte7i6ely_mondo_relaxed.owl infantile epilepsy syndrome|epilepsy syndrome of infancy|infantile onset epilepsy syndrome UMLS:CN206975|ICD10:G40.4|Orphanet:98258 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class GO:0000791 biolink:NamedThing euchromatin A dispersed and relatively uncompacted form of chromatin. tmpte7i6ely_mondo_relaxed.owl nuclear euchromatin owl:Class MONDO:0005410 biolink:NamedThing acute graft vs. host disease Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft. tmpte7i6ely_mondo_relaxed.owl EFO:0004599 Editor note: consider merging with parent owl:Class MONDO:0013730 biolink:NamedThing graft versus host disease Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. tmpte7i6ely_mondo_relaxed.owl GVHDS|graft-versus-host disease, susceptibility to|graft-VS-host diseases|graft-versus-host diseases|GVH|diseases, graft-VS-host|homologous wasting disease|graft VS host disease|disease, runt|disease, graft-VS-host|runt disease|disease, homologous wasting|graft-versus-host-disease|disease, graft-versus-host|graft-VS-host disease|diseases, graft-versus-host|graft versus host disease|graft-versus-host disease|graft-versus-host disease, resistance to|graft VS. host disease|GVHD ICD10:T86.0|MESH:D006086|NCIT:C3063|UMLS:C0018133|MedDRA:10018651|SCTID:234646005|OMIM:614395|Orphanet:39812|ICD9:279.50 owl:Class MONDO:0002033 biolink:NamedThing cecum cancer A malignant neoplasm involving the caecum tmpte7i6ely_mondo_relaxed.owl malignant cecum neoplasm|malignant neoplasm of cecum|malignant neoplasm of caecum|malignant tumor of the cecum|malignant cecum tumor|malignant neoplasm of the cecum|malignant tumor of cecum|cancer of caecum|malignant caecum neoplasm|caecum cancer UMLS:C0153437|DOID:1521|ICD10:C18.0|NCIT:C9329|ICD9:153.4|MESH:D002430 owl:Class MONDO:0015871 biolink:NamedThing benign breast phyllodes tumor A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors. tmpte7i6ely_mondo_relaxed.owl cystosarcoma phylloide|cystosarcoma phylloide of the breast|breast benign phyllodes neoplasm|benign phyllodes neoplasm of the breast|cystosarcoma phyllode of the breast|phylloide tumor of the breast|benign phyllodes neoplasm of breast|benign phyllodes neoplasm|benign cystosarcoma phyllodes|cystosarcoma phyllode|BPT|phyllodes tumor, benign (morphologic abnormality)|cystosarcoma phyllodes NOS (morphologic abnormality)|phyllodes neoplasm|phyllode tumor of the breast|benign phyllodes tumor of breast|benign phyllodes tumor of the breast|cystosarcoma phyllodes|breast phyllodes tumor, benign|benign breast phyllodes tumor MESH:D003557|NCIT:C5196|ONCOTREE:BPT|MedDRA:10011813|DOID:1631|ICD10:D48.6|Orphanet:180261|UMLS:C1332533|SCTID:720344007 owl:Class MONDO:0013331 biolink:NamedThing factor 5 and Factor VIII, combined deficiency of, 2 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene. tmpte7i6ely_mondo_relaxed.owl MCFD2 combined deficiency of factor V and factor VIII|combined deficiency of factor V and factor VIII caused by mutation in MCFD2|factor V and factor VIII, combined deficiency of, 2|factor 5 and Factor VIII, combined deficiency of, type 2|factor 5 and Factor VIII, combined deficiency of, 2|F5F8D2 OMIM:613625|UMLS:C3150889|Orphanet:35909 owl:Class PATO:0002318 biolink:NamedThing superelliptic A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt tmpte7i6ely_mondo_relaxed.owl Lamé curve owl:Class PATO:0002006 biolink:NamedThing 2-D shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. tmpte7i6ely_mondo_relaxed.owl cross-sectional|2-D projection owl:Class MONDO:0019767 biolink:NamedThing hamel cerebro-palato-cardiac syndrome Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. tmpte7i6ely_mondo_relaxed.owl UMLS:CN206702|Orphanet:93946 owl:Class MONDO:0060774 biolink:NamedThing vaginal fibroepithelial polyp A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl fibroepithelial polyp of the vagina|vaginal fibroepithelial polyp|fibroepithelial polyp of vagina|vaginal fibroepithelial stromal polyp UMLS:C0750071|NCIT:C4948 owl:Class MONDO:0011308 biolink:NamedThing GRACILE syndrome GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). tmpte7i6ely_mondo_relaxed.owl Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Fellman syndrome|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Fellman disease|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|gracile syndrome|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|FLNMS|lactic acidosis, Finnish, with hepatic hemosiderosis|Finnish lethal neonatal metabolic syndrome|Finnish lactic acidosis with hepatic hemosiderosis UMLS:C1864002|ICD10:E88.8|OMIM:603358|Orphanet:53693|SCTID:703388005|DOID:0111455|GARD:0000001|ICD9:759.89|MESH:C537934 owl:Class UBERON:0035316 biolink:NamedThing prostatic capsule tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18362 biolink:NamedThing IMPG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012947 biolink:NamedThing intellectual disability, autosomal dominant 4 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 4|intellectual disability, autosomal dominant 4|KIRREL3 autosomal dominant non-syndromic intellectual disability|MRD4|autosomal dominant intellectual disability 4|autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3|intellectual disability, autosomal dominant type 4|autosomal dominant mental retardation 4|mental retardation, autosomal dominant type 4|mental retardation, autosomal dominant 4 Orphanet:178469|DOID:0070034|MESH:C567240|OMIM:612581|UMLS:C2675487 owl:Class MONDO:0015016 biolink:NamedThing anterior segment dysgenesis 6 tmpte7i6ely_mondo_relaxed.owl ASGD6|anterior segment dysgenesis type 6|anterior segment dysgenesis 6 UMLS:C4310623|DOID:0080611|OMIM:617315 owl:Class UBERON:0005024 biolink:NamedThing mucosa of soft palate tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:130 biolink:NamedThing ACTA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045014 biolink:NamedThing tetrahydrobiopterin metabolic process disease A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process. tmpte7i6ely_mondo_relaxed.owl tetrahydrobiopterin metabolism disease|disorder of tetrahydrobiopterin metabolism|disorder of tetrahydrobiopterin metabolic process SCTID:237913008|UMLS:C0342676 owl:Class UBERON:0003364 biolink:NamedThing epithelium of right lung tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6953 biolink:NamedThing CD46 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002556 biolink:NamedThing fibroblast of periodontium A fibroblast of the periodontium. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:19:48Z cell owl:Class MONDO:0009963 biolink:NamedThing Ulbright-Hodes syndrome Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl renal dysplasia, mesomelia, and radiohumeral fusion|renal dysplasia limb defects syndrome|Ulbright Hodes syndrome|renal dysplasia-limb defects syndrome|RL syndrome|renal dysplasia-mesomelia-radiohumeral fusion syndrome OMIM:266910|UMLS:C1849438|Orphanet:3404|GARD:0005394|SCTID:719840003|ICD10:Q87.8|MESH:C537754 owl:Class HP:0001637 biolink:NamedThing Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. tmpte7i6ely_mondo_relaxed.owl Abnormality of the myocardium UMLS:C4025758 human_phenotype owl:Class MONDO:0014864 biolink:NamedThing hypermanganesemia with dystonia 2 Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene. tmpte7i6ely_mondo_relaxed.owl SLC39A14 hypermanganesemia with dystonia|HMNDYT2|hypermanganesemia with dystonia type 2|hypermanganesemia with dystonia 2; HMNDYT2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2 Orphanet:521406|DOID:0080537|OMIM:617013|SCTID:768554008|UMLS:C4310765 owl:Class UBERON:0016410 biolink:NamedThing male breast tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100303 biolink:NamedThing Muscle fiber cytoplasmatic inclusion bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. tmpte7i6ely_mondo_relaxed.owl Muscle fiber cytoplasmic bodies|Muscle fibre cytoplasmic bodies|Muscle fibre cytoplasmatic inclusion bodies UMLS:C4022157 doelkens 2010-08-10T02:39:22Z HP:0003790 human_phenotype owl:Class HP:0100299 biolink:NamedThing Muscle fiber inclusion bodies tmpte7i6ely_mondo_relaxed.owl Muscle fibre inclusion bodies UMLS:C4022159 This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. doelkens 2010-08-10T02:21:34Z human_phenotype owl:Class MONDO:0019647 biolink:NamedThing congenital bilateral megacalycosis tmpte7i6ely_mondo_relaxed.owl ICD10:Q63.8|Orphanet:93177 owl:Class MONDO:0019639 biolink:NamedThing congenital megacalycosis Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. tmpte7i6ely_mondo_relaxed.owl SCTID:85901000|Orphanet:93109|ICD9:753.3|ICD10:Q63.8 owl:Class HGNC:28033 biolink:NamedThing CCDC174 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001948 biolink:NamedThing regional part of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048738 biolink:NamedThing cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl heart muscle development owl:Class GO:0014706 biolink:NamedThing striated muscle tissue development The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010039 biolink:NamedThing congenital heart defect-round face-developmental delay syndrome Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Sonoda syndrome|round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development ICD10:Q87.8|GARD:0004905|SCTID:715987000|MESH:C536680|OMIM:270460|UMLS:C0796162|Orphanet:1355 owl:Class UBERON:8410024 biolink:NamedThing intestinal junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011107 biolink:NamedThing synovial joint of pelvic girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033532 biolink:NamedThing Suleiman-El-Hattab syndrome tmpte7i6ely_mondo_relaxed.owl SULEIMAN-EL-HATTAB SYNDROME|SULEHS OMIM:618950 owl:Class MONDO:0013357 biolink:NamedThing chromosome 17q11.2 deletion syndrome, 1.4Mb A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. tmpte7i6ely_mondo_relaxed.owl RNF135-related overgrowth syndrome|chromosome 17q11.2 deletion syndrome|overgrowth-macrocephaly-facial dysmorphism syndrome|17q11 microdeletion syndrome|monosomy 17q11|MMFD|NF1 microduplication syndrome|neurofibromatosis type 1 microdeletion syndrome|NF1 microdeletion syndrome|neurofibromatosis 1 microdeletion syndrome|Van Asperen syndrome|Del(17)(q11)|chromosome 17q11.2 deletion syndrome, 1.4-MB|macrocephaly, macrosomia, and facial dysmorphism syndrome UMLS:C3280095|DOID:0060403|ICD10:Q85.0|SCTID:722122000|Orphanet:636|Orphanet:139474|Orphanet:97685|MESH:C563524|GARD:0005408|OMIM:613675|ICD10:Q87.3|Orphanet:137634 https://rarediseases.info.nih.gov/diseases/5408/chromosome-17q112-deletion-syndrome owl:Class UBERON:0016516 biolink:NamedThing lamina propria of prostatic urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000030 biolink:NamedThing lamina propria tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003462 biolink:NamedThing papillary adenofibroma A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl papillary adenofibroma DOID:5479|NCIT:C8986|UMLS:C1377850 owl:Class MONDO:0006071 biolink:NamedThing adenofibroma A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. tmpte7i6ely_mondo_relaxed.owl benign mixed Muellerian tumor|adenofibroma, no ICD-O subtype (morphologic abnormality)|adenofibroma, benign|adenofibroma, no ICD-O subtype|female reproductive system adenofibroma ICDO:9013/0|DOID:2683|MESH:D000232|UMLS:C0001422|NCIT:C8984|EFO:1000070 owl:Class MONDO:0018830 biolink:NamedThing Kimura disease Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. tmpte7i6ely_mondo_relaxed.owl eosinophilic granuloma of soft tissue|eosinophilic hyperplastic lymphogranuloma|eosinophilic lymphogranuloma|angiolymphoid hyperplasia with eosinophilia|Kimura's disease|eosinophilic lymphofollicular granuloma|eosinophilic lymphofolliculosis UMLS:C0033838|DOID:7365|ICD10:I89.8|Orphanet:482|GARD:0006835|EFO:1000722|MESH:D000796|Wikipedia:Kimura's_disease|MedDRA:10048640|NCIT:C26867 https://github.com/monarch-initiative/mondo/issues/3599|https://rarediseases.info.nih.gov/diseases/6835/kimura-disease owl:Class NCBITaxon:194 biolink:NamedThing Campylobacter tmpte7i6ely_mondo_relaxed.owl PMID:19801389|PMID:11542086|PMID:16627635|GC_ID:11|PMID:12361288|PMID:1704793|PMID:29034857 ncbi_taxonomy owl:Class NCBITaxon:72294 biolink:NamedThing Campylobacteraceae tmpte7i6ely_mondo_relaxed.owl Campylobacter group GC_ID:11|PMID:29034857 ncbi_taxonomy owl:Class MONDO:0005963 biolink:NamedThing sparganosis A condition resulting from infection with the second stage larvae of the parasite Spirometra. tmpte7i6ely_mondo_relaxed.owl sparganosis [larval diphyllobothriasis]|Spirometra infectious disease|Spirometra caused disease or disorder|Spirometra disease or disorder|infection by sparganum UMLS:C0037753|ICD9:123.5|DOID:10080|MESH:D013031|SCTID:31659000|EFO:0007488|NCIT:C35030|ICD10:B70.1 owl:Class MONDO:0001196 biolink:NamedThing psychologic dyspareunia tmpte7i6ely_mondo_relaxed.owl non-organic dyspareunia|dyspareunia, psychogenic ICD10:F52.6|SCTID:41021005|MESH:D004414|ICD9:302.76|DOID:11120 owl:Class MONDO:0011812 biolink:NamedThing Duane-radial ray syndrome A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl DR syndrome|Duane anomaly with radial abnormalities and deafness|DRRS|acrorenocular syndrome|Duane-radial ray syndrome|Duane anomaly with radial ray abnormalities and deafness|acro-renal-ocular syndrome|Okihiro syndrome DOID:0060747|ICD9:759.89|SCTID:720415006|UMLS:CN206803|Orphanet:93293|GARD:0009182|OMIM:607323|ICD10:Q87.8|SCTID:699867001|Orphanet:959 https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome owl:Class MONDO:0004042 biolink:NamedThing urethra inverted papilloma A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue. tmpte7i6ely_mondo_relaxed.owl inverted papilloma of urethra|inverted papilloma of the urethra|urethra inverted papilloma|urethral inverted papilloma DOID:6934|UMLS:C1336887|NCIT:C6173 owl:Class MONDO:0020530 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpte7i6ely_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|MSMD due to complete IFNgammaR1 deficiency|interferon gamma, receptor 1, deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IFNGR1 deficiency|MSMD due to complete interferon gamma receptor 1 deficiency GARD:0003011|OMIM:209950|ICD10:D84.8|MESH:C535530|UMLS:C2930924|Orphanet:99898 owl:Class GO:0002089 biolink:NamedThing lens morphogenesis in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpte7i6ely_mondo_relaxed.owl lens morphogenesis in camera-style eye|lens morphogenesis owl:Class HGNC:6144 biolink:NamedThing ITGA8 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100852 biolink:NamedThing Abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. tmpte7i6ely_mondo_relaxed.owl Abnormal fear/anxiety-related behaviour UMLS:C4018849 doelkens 2011-06-23T11:13:16Z HP:0001296 human_phenotype owl:Class MONDO:0017744 biolink:NamedThing disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis tmpte7i6ely_mondo_relaxed.owl UMLS:CN227191|ICD10:E77.8|Orphanet:309463 owl:Class MONDO:0012457 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 2 tmpte7i6ely_mondo_relaxed.owl pyloric stenosis, infantile hypertrophic, 2|IHPS2 OMIM:610260|MESH:C565208|UMLS:C1853228 owl:Class MONDO:0032637 biolink:NamedThing ciliary dyskinesia, primary, 39 tmpte7i6ely_mondo_relaxed.owl CILD39|Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 39 OMIM:618254 owl:Class UBERON:0004500 biolink:NamedThing skeletal muscle tissue of deltoid tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098647 biolink:NamedThing collagen beaded filament A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure. tmpte7i6ely_mondo_relaxed.owl beads on a string owl:Class GO:0099512 biolink:NamedThing supramolecular fiber A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. tmpte7i6ely_mondo_relaxed.owl fibril owl:Class UBERON:0014649 biolink:NamedThing white matter of medulla oblongata tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014891 biolink:NamedThing brainstem white matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013649 biolink:NamedThing hypotrichosis 9 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3. tmpte7i6ely_mondo_relaxed.owl hypotrichosis type 9|hypotrichosis 9|hypt9|HYPT9 Orphanet:55654|UMLS:C3280252|OMIM:614237|DOID:0110706 owl:Class MONDO:0010008 biolink:NamedThing sarcosinemia Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. tmpte7i6ely_mondo_relaxed.owl sarcosinemia|hypersarcosinemia|sarcosine dehydrogenase complex deficiency|SARDH deficiency|SARCOS|SARD deficiency SCTID:64852002|Orphanet:3129|MESH:C537236|ICD10:E72.5|UMLS:C0268563|MedDRA:10059299|GARD:0000158|ICD9:270.8|OMIM:268900 https://rarediseases.info.nih.gov/diseases/158/sarcosinemia owl:Class MONDO:0013005 biolink:NamedThing EAST syndrome SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). tmpte7i6ely_mondo_relaxed.owl seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|epilepsy, ataxia, sensorineural deafness and tubulopathy|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|EAST syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|sesame syndrome|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|SESAMES|epilepsy, ataxia, sensorineural deafness, and tubulopathy UMLS:C2748572|OMIM:612780|Orphanet:199343|DOID:0060484|GARD:0010514|MESH:C557674|SCTID:721207002 owl:Class MONDO:0020678 biolink:NamedThing sensorineural hearing loss disorder Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). tmpte7i6ely_mondo_relaxed.owl SNHL|sensorineural hearing loss|sensorineural deafness|neurosensory deafness|sensorineural hearing loss disorder HP:0000407|SCTID:60700002|NCIT:C26739 owl:Class HP:0012093 biolink:NamedThing Abnormality of endocrine pancreas physiology A function abnormality of the endocrine pancreas. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023047 peter 2012-08-20T09:18:18Z human_phenotype owl:Class MONDO:0000637 biolink:NamedThing musculoskeletal system cancer A malignant neoplasm involving the musculoskeletal system tmpte7i6ely_mondo_relaxed.owl cancer of musculoskeletal system|malignant neoplasm of musculoskeletal system|musculoskeletal system cancer|malignant musculoskeletal system neoplasm|skeletal system cancer DOID:0060100 owl:Class MONDO:0012884 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 13 tmpte7i6ely_mondo_relaxed.owl SLEB13|systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 owl:Class MONDO:0011496 biolink:NamedThing mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. tmpte7i6ely_mondo_relaxed.owl osteoarthritis with mild chondrodysplasia|Namaqualand hip dysplasia|OSCDP ICD9:755.63|UMLS:C1858079|OMIM:604864|ICD10:Q77.7|Orphanet:93279|SCTID:254064009|MESH:C565740 owl:Class BFO:0000024 biolink:NamedThing fiat object part tmpte7i6ely_mondo_relaxed.owl FiatObjectPart fiat-object-part BFO 2 Reference: Most examples of fiat object parts are associated with theoretically drawn divisions b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004]) the division of the brain into regions|or with divisions drawn by cognitive subjects for practical reasons, such as the division of a cake (before slicing) into (what will become) slices (and thus member parts of an object aggregate). However, this does not mean that fiat object parts are dependent for their existence on divisions or delineations effected by cognitive subjects. If, for example, it is correct to conceive geological layers of the Earth as fiat object parts of the Earth, then even though these layers were first delineated in recent times, still existed long before such delineation and what holds of these layers (for example that the oldest layers are also the lowest layers) did not begin to hold because of our acts of delineation.Treatment of material entity in BFOExamples viewed by some as problematic cases for the trichotomy of fiat object part, object, and object aggregate include: a mussel on (and attached to) a rock, a slime mold, a pizza, a cloud, a galaxy, a railway train with engine and multiple carriages, a clonal stand of quaking aspen, a bacterial community (biofilm), a broken femur. Note that, as Aristotle already clearly recognized, such problematic cases – which lie at or near the penumbra of instances defined by the categories in question – need not invalidate these categories. The existence of grey objects does not prove that there are not objects which are black and objects which are white; the existence of mules does not prove that there are not objects which are donkeys and objects which are horses. It does, however, show that the examples in question need to be addressed carefully in order to show how they can be fitted into the proposed scheme, for example by recognizing additional subdivisions [29|the division of the planet into hemispheres|the dorsal and ventral surfaces of the body|the upper and lower lobes of the left lung|the Western hemisphere of the Earth|the FMA:regional parts of an intact human body. (forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004] owl:Class CL:0002657 biolink:NamedThing glandular cell of esophagus A glandular epithelial cell of the esophagus. tmpte7i6ely_mondo_relaxed.owl FMA:86548 tmeehan 2011-07-08T03:55:57Z cell owl:Class CL:0002252 biolink:NamedThing epithelial cell of esophagus An epithelial cell of the esophagus. tmpte7i6ely_mondo_relaxed.owl FMA:63071 tmeehan 2010-09-08T09:28:20Z CL:1000402 cell owl:Class MONDO:0001072 biolink:NamedThing mild pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. tmpte7i6ely_mondo_relaxed.owl ICD9:642.42|DOID:10590|ICD9:642.40|ICD9:642.41|ICD9:642.44|SCTID:41114007|ICD9:642.43 owl:Class MONDO:0005081 biolink:NamedThing preeclampsia Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. tmpte7i6ely_mondo_relaxed.owl preeclampsia/eclampsia|pre-eclampsia|pre-eclamptic toxaemia|toxaemia of pregnancy|pregnancy toxemia|pregnancy associated hypertension|gestational hypertension|preeclampsia|hypertension induced by pregnancy|proteinuric hypertension of pregnancy NCIT:C85021|OMIM:609404|OMIMPS:189800|MedDRA:10036485|ICD10:O14.90|EFO:0000668|DOID:10591|ICD9:642.44|ICD10:O14.1|ICD10:O14|ICD9:642.43|OMIM:189800|ICD10:O14.0|OMIM:614595|ICD9:642.42|ICD10:O14.2|OMIM:609402|ICD9:642.40|ICD9:642.41|ICD10:O14.9|SCTID:398254007|OMIM:609403|MESH:D011225|Orphanet:275555 owl:Class NCBITaxon:8048 biolink:NamedThing Gadus tmpte7i6ely_mondo_relaxed.owl Theragra GC_ID:1 NCBITaxon:48549 ncbi_taxonomy owl:Class NCBITaxon:8045 biolink:NamedThing Gadidae tmpte7i6ely_mondo_relaxed.owl tadpole cod|cods|Ranicipitidae GC_ID:1 NCBITaxon:185742 ncbi_taxonomy owl:Class MONDO:0004792 biolink:NamedThing cancer of isthmus of fallopian tube A cancer that involves the UBERON:0016632. tmpte7i6ely_mondo_relaxed.owl cancer of isthmus of fallopian tube|isthmus of fallopian tube cancer|malignant neoplasm of isthmus of fallopian tube|malignant isthmus of fallopian tube neoplasm ICD9:182.1|DOID:9459 owl:Class MONDO:0008869 biolink:NamedThing Seckel syndrome 1 Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. tmpte7i6ely_mondo_relaxed.owl Bird-headed dwarfism|Seckel syndrome type 1|microcephalic primordial dwarfism I|nanocephalic dwarfism|Seckel syndrome caused by mutation in ATR|Seckel syndrome 3|Sckl|Seckel-type dwarfism|SCKL1|Seckel syndrome 1|ATR Seckel syndrome|microcephalic primordial dwarfism 1 Orphanet:808|UMLS:C1837590|UMLS:CN033164|DOID:0070007|UMLS:C0265202|OMIM:210600 owl:Class GO:0090304 biolink:NamedThing nucleic acid metabolic process Any cellular metabolic process involving nucleic acids. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043170 biolink:NamedThing macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl macromolecule metabolism|biopolymer metabolic process|multicellular organismal macromolecule metabolic process|organismal macromolecule metabolism owl:Class NCBITaxon:772 biolink:NamedThing Bartonellaceae tmpte7i6ely_mondo_relaxed.owl Bartonella group GC_ID:11|PMID:8240958 ncbi_taxonomy owl:Class MONDO:0018068 biolink:NamedThing trisomy 13 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. tmpte7i6ely_mondo_relaxed.owl Patau syndrome|trisomy 13|trisomy type 13|Patau's syndrome|D trisomy syndrome (formerly)|D1 trisomy|complete trisomy 13 syndrome|chromosome 13, trisomy 13 complete MESH:C536305|UMLS:C0152095|NCIT:C101223|MedDRA:10044686|DOID:11665|UMLS:CN204386|ICD10:Q91.7|GARD:0007341|ICD10:Q91.6|ICD10:Q91.5|ICD9:758.1|SCTID:21111006|ICD10:Q91.4|Orphanet:3378|NCIT:C36529 owl:Class MONDO:0007823 biolink:NamedThing insulin receptors, familial increase 1N tmpte7i6ely_mondo_relaxed.owl insulin receptors, familial increase IN|insulin receptors, familial increase type 1N 2022-04-01 OMIM:147320 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0032622 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 17 tmpte7i6ely_mondo_relaxed.owl MC1DN17|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 OMIM:618239 owl:Class MONDO:0013915 biolink:NamedThing hypogonadotropic hypogonadism 13 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene. tmpte7i6ely_mondo_relaxed.owl HH13|hypogonadotropic hypogonadism caused by mutation in KISS1|hypogonadotropic hypogonadism 13 with or without anosmia|KISS1 hypogonadotropic hypogonadism OMIM:614842|UMLS:C3541462|DOID:0090073|ICD10:E23.0 owl:Class MONDO:0015782 biolink:NamedThing dysmorphism-cleft palate-loose skin syndrome Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200364|Orphanet:1779 owl:Class MONDO:0022908 biolink:NamedThing cutis gyratum acanthosis nigricans craniosynostosis tmpte7i6ely_mondo_relaxed.owl GARD:0001635 https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis owl:Class UBERON:0009913 biolink:NamedThing renal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009912 biolink:NamedThing anatomical lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020499 biolink:NamedThing Nipah virus disease Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. tmpte7i6ely_mondo_relaxed.owl Nipah fever|Nipah virus infectious disease|Nipah encephalitis UMLS:CN207389|Orphanet:99825|DOID:0050192|ICD10:A98.8 owl:Class MONDO:0005785 biolink:NamedThing henipavirus infectious disease Infections with viruses of the genus henipavirus, family paramyxoviridae. tmpte7i6ely_mondo_relaxed.owl Henipavirus disease or disorder|Henipavirus infectious disease|Henipavirus caused disease or disorder MESH:D045464|EFO:0007300 owl:Class NCBITaxon:2169991 biolink:NamedThing Argentinian mammarenavirus tmpte7i6ely_mondo_relaxed.owl Junin virus|Junin mammarenavirus|Junin arenavirus|Junn mammarenavirus GC_ID:1 NCBITaxon:11619 ncbi_taxonomy owl:Class UBERON:0001326 biolink:NamedThing levator ani muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000936 biolink:NamedThing syphilitic meningitis An infectious meningitis caused by infection with Treponema. tmpte7i6ely_mondo_relaxed.owl meningeal syphilis|meningitis, syphilitic|Treponema infectious meningitis|Treponema caused infectious meningitis|syphilitic aseptic meningitis DOID:10073|SCTID:301086002|GARD:0008731|MESH:C536775|ICD9:094.2|UMLS:C0153166 owl:Class GO:2000382 biolink:NamedThing positive regulation of mesoderm development Any process that activates or increases the frequency, rate or extent of mesoderm development. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33238 biolink:NamedThing monoatomic entity A monoatomic entity is a molecular entity consisting of a single atom. tmpte7i6ely_mondo_relaxed.owl atomic entity|monoatomic entities owl:Class CHEBI:33259 biolink:NamedThing elemental molecular entity A molecular entity all atoms of which have the same atomic number. tmpte7i6ely_mondo_relaxed.owl homoatomic molecular entities|homoatomic entity|homoatomic molecular entity owl:Class CL:0002352 biolink:NamedThing gestational hematopoietic stem cell A hematopoietic stem cell that exists during embryogenesis. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-22T09:05:13Z cell owl:Class MONDO:0016772 biolink:NamedThing annular lichen planus Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions. tmpte7i6ely_mondo_relaxed.owl annular LP GARD:0012674|UMLS:C0406363|Orphanet:254424|ICD10:L43.8|SCTID:201000006 https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus owl:Class MONDO:0007125 biolink:NamedThing ankyloglossia A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth. tmpte7i6ely_mondo_relaxed.owl ankyloglossia|'tongue-Tie'|tongue-tie|FUSED to floor of mouth OMIM:106280|ICD9:750.0|DOID:0060604|ICD10:Q38.1|NCIT:C124538|MESH:C562396|SCTID:67787004 owl:Class MONDO:0016552 biolink:NamedThing congenital primary megaureter, nonrefluxing and unobstructed form tmpte7i6ely_mondo_relaxed.owl ICD10:Q62.2|Orphanet:238654 owl:Class MONDO:0019485 biolink:NamedThing idiopathic hemiconvulsion-hemiplegia syndrome A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory. tmpte7i6ely_mondo_relaxed.owl HHE syndrome|IHHS|hemiconvulsion-hemiplegia-epilepsy syndrome ICD10:G40.4|SCTID:230407006|Orphanet:86908 owl:Class MONDO:0021083 biolink:NamedThing congenital fibrosis of extraocular muscles type 1 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene. tmpte7i6ely_mondo_relaxed.owl congenital fibrosis of extraocular muscles caused by mutation in KIF21A|fibrosis of extraocular muscles, congenital, 1|CFEOM1|blepharoptosis with absent eye movements|Feom1 locus|fibrosis of extraocular muscles, congenital, 3B|KIF21A congenital fibrosis of extraocular muscles|ophthalmoplegia, congenital OMIM:135700|Orphanet:45358 owl:Class MONDO:0015349 biolink:NamedThing progressive cavitating leukoencephalopathy Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. tmpte7i6ely_mondo_relaxed.owl Orphanet:139447|ICD10:E75.2|SCTID:719267003|UMLS:C4304840 owl:Class MONDO:0004024 biolink:NamedThing spinal cord neuroblastoma A neuroblastoma that affects the spinal cord. tmpte7i6ely_mondo_relaxed.owl spinal cord neuroblastoma|neuroblastoma of spinal cord|neuroblastoma of the spinal cord UMLS:C1336046|DOID:6871|NCIT:C5155 owl:Class MONDO:0002749 biolink:NamedThing extracranial neuroblastoma A neuroblastoma arising from an anatomic site other than the brain. tmpte7i6ely_mondo_relaxed.owl extracranial neuroblastoma DOID:371|UMLS:C1333499|NCIT:C5437 owl:Class MONDO:0012984 biolink:NamedThing PHARC syndrome Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. tmpte7i6ely_mondo_relaxed.owl PHARC|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|PHARC syndrome|polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|peripheral neuropathy, Fiskerstrand type MESH:C567203|OMIM:612674|Orphanet:171848|DOID:0080181|SCTID:723452007|UMLS:C2675204 owl:Class MONDO:0018892 biolink:NamedThing Wyburn-Mason syndrome Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. tmpte7i6ely_mondo_relaxed.owl CAMS2|Cerebrofacial arteriovenous metameric syndrome type 2|Wyburn Mason syndrome|bonnet-Decaume-Blanc syndrome|bonnet-Dechaume-Blanc syndrome|Wyburn Mason's syndrome|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes ICD10:Q28.2|GARD:0007900|MedDRA:10048661|SCTID:6729006|MESH:C536752|Orphanet:53719|UMLS:C0265321 owl:Class MONDO:0022805 biolink:NamedThing colonic malakoplakia tmpte7i6ely_mondo_relaxed.owl GARD:0006137 https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia owl:Class UBERON:0005893 biolink:NamedThing leg bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043207 biolink:NamedThing urethral obstruction sequence tmpte7i6ely_mondo_relaxed.owl EUOS|renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction|early urethral obstruction sequence MESH:C536477|UMLS:C0265363|SCTID:18241005|GARD:0005428 owl:Class MONDO:0001556 biolink:NamedThing urethral obstruction Blockage of the normal flow of urine in the urethra. tmpte7i6ely_mondo_relaxed.owl urethral obstruction|obstruction of urethra|urethral obstruction (disease) urethral obstruction (disease) MESH:D014524|ICD9:599.69|HP:0000796|NCIT:C79804|SCTID:95588004|DOID:12577|UMLS:C0041972 owl:Class MONDO:0017592 biolink:NamedThing staphylococcal toxemia tmpte7i6ely_mondo_relaxed.owl UMLS:C0854511|MedDRA:10041932|Orphanet:300579 owl:Class CL:1001589 biolink:NamedThing duodenum glandular cell Glandular cell of duodenal epithelium. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Brunner's gland cell. tmpte7i6ely_mondo_relaxed.owl duodenum glandular cells CALOHA:TS-1275 owl:Class MONDO:0019861 biolink:NamedThing thyroid hypoplasia Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl ICD10:E03.1|OMIM:225250|MedDRA:10065938|Orphanet:95720|OMIM:218700 owl:Class MONDO:0003121 biolink:NamedThing middle cranial fossa meningioma A meningioma that affects the middle cranial fossa. tmpte7i6ely_mondo_relaxed.owl meningioma of middle cranial fossa|meningioma (disease) of middle cranial fossa|meningioma of the middle cranial fossa|middle cranial fossa meningioma (disease) NCIT:C5586|DOID:4749|UMLS:C1334757 owl:Class MONDO:0019325 biolink:NamedThing phakomatosis cesioflammea tmpte7i6ely_mondo_relaxed.owl phakomatosis pigmentovascularis type 2 UMLS:CN205984|Orphanet:79483|ICD10:Q85.8|ICD9:759.6|SCTID:703284009 owl:Class MONDO:0017318 biolink:NamedThing phakomatosis pigmentovascularis tmpte7i6ely_mondo_relaxed.owl Phacomatosis pigmentovascularis|association of cutaneous vascular malformations and different pigmentary disorders|PPv|phakomatosis pigmentovascularis|port-wine stain with oculocutaneous melanosis Orphanet:2875|ICD9:709.09|ICD10:Q85.8|GARD:0004312|MESH:C537894|SCTID:403545005 owl:Class ENVO:01000875 biolink:NamedThing precipitation process A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001541 biolink:NamedThing plantar nerve lesion A peripheral nerve lesion that involves the plantar nerve. tmpte7i6ely_mondo_relaxed.owl peripheral nerve lesion of plantar nerve|lesion of plantar nerve|plantar nerve peripheral nerve lesion SCTID:193148004|UMLS:C0154752|ICD10:G57.6|DOID:12524|ICD10:G57.60|ICD9:355.6 owl:Class GO:0043168 biolink:NamedThing anion binding Binding to an anion, a charged atom or group of atoms with a net negative charge. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043167 biolink:NamedThing ion binding Binding to an ion, a charged atoms or groups of atoms. tmpte7i6ely_mondo_relaxed.owl atom binding owl:Class HP:0011107 biolink:NamedThing Recurrent aphthous stomatitis Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpte7i6ely_mondo_relaxed.owl Aphthous stomatitis|Buccal aphthous ulcers|Recurrent aphthous ulcers|Recurrent oral aphthae|Recurrent canker sores MSH:D013281|SNOMEDCT_US:426965005|SNOMEDCT_US:398870000|UMLS:C0038363|SNOMEDCT_US:110426005|UMLS:C2937365|SNOMEDCT_US:427617000 Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. peter 2011-06-08T07:11:09Z human_phenotype owl:Class HP:0032154 biolink:NamedThing Aphthous ulcer Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpte7i6ely_mondo_relaxed.owl Canker sore 2018-12-02 14:06:55+00:00 peter human_phenotype owl:Class MONDO:0018576 biolink:NamedThing non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl ICD10:G93.4|Orphanet:436271 owl:Class HGNC:21701 biolink:NamedThing BRAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0055118 biolink:NamedThing negative regulation of cardiac muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6463 biolink:NamedThing KRT86 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008404 biolink:NamedThing proximal tubular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:7180 biolink:NamedThing Haemagogus tmpte7i6ely_mondo_relaxed.owl Haemagogus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1056966 biolink:NamedThing Aedini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006717 biolink:NamedThing cutaneous fibrous histiocytoma A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. tmpte7i6ely_mondo_relaxed.owl fibrous histiocytoma of the skin|fibrous xanthoma of skin|fibrohistiocytic neoplasm|fibrous histiocytoma of skin|sclerosing angioma of skin|fibrohistiocytic tumor|dermatofibroma|pleomorphic fibroma|dermatofibroma, no ICD-O subtype (morphologic abnormality)|DF|benign cutaneous fibrous histiocytoma|sclerosing angioma (morphologic abnormality)|benign fibrous histiocytoma of skin|benign fibrous cutaneous histiocytoma|dermatofibroma, no ICD-O subtype|benign skin fibrous histiocytoma|sclerosing angioma|cutaneous fibrous histiocytoma|benign fibrous histiocytoma of the skin ICDO:8832/0|SCTID:448015002|UMLS:C0002991|DOID:4418|ONCOTREE:DF|EFO:1000885|MESH:D018219|UMLS:C0346049|NCIT:C6801 owl:Class MONDO:0002989 biolink:NamedThing benign fibrous histiocytoma A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. tmpte7i6ely_mondo_relaxed.owl benign fibrous histiocytoma (morphologic abnormality)|benign fibrous histiocytoma|fibrous histiocytoma NOS (morphologic abnormality)|fibroxanthoma|histiocytoma, fibrous, benign|fibroxanthoma NOS (morphologic abnormality)|fibrous histiocytoma NCIT:C3739|UMLS:C0206644|DOID:4415|ICDO:8830/0|MESH:D018219 owl:Class GO:1902492 biolink:NamedThing positive regulation of sperm capacitation Any process that activates or increases the frequency, rate or extent of sperm capacitation. tmpte7i6ely_mondo_relaxed.owl activation of sperm capacitation|up-regulation of sperm activation|upregulation of sperm activation|upregulation of sperm capacitation|up-regulation of sperm capacitation|positive regulation of sperm activation|up regulation of sperm activation|up regulation of sperm capacitation|activation of sperm activation owl:Class MONDO:0008702 biolink:NamedThing achondrogenesis type II Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. tmpte7i6ely_mondo_relaxed.owl achondrogenesis, type IB|achondrogenesis, type 2|achondrogenesis, type II|ACG2|hypochondrogenesis|chondrogenesis imperfecta|achondrogenesis, type IB, formerly|achondrogenesis type 2|achondrogenesis type II|achondrogenesis, Langer-Saldino type Orphanet:93296|ICD10:Q77.0|Orphanet:932|MESH:C536017|DOID:0080056|Orphanet:93297|GARD:0008713|OMIM:200610 owl:Class MONDO:0007908 biolink:NamedThing multiple symmetric lipomatosis Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). tmpte7i6ely_mondo_relaxed.owl Madelung's neck|benign symmetrical lipomatosis|multiple symmetrical lipomatosis|lipomatosis, multiple symmetric|Launois-Bensaude syndrome|lipomatosis, familial benign cervical|familial symmetric lipomatosis|Madelung's disease|lipodystrophy, cephalothoracic|multiple symmetric lipomatosis|Madelung disease|Launois-Bensaude's lipomatosis|cervical symmetrical lipomatosis|cephalothoracic lipodystrophy|familial benign cervical lipomatosis|Launois-Bensaude lipomatosis|MSL GARD:0006957|ICD10:E88.8|SCTID:238902007|EFO:1000737|UMLS:CN201658|DOID:14116|OMIM:151800|Orphanet:2398|UMLS:C0024445|UMLS:C0023804|NCIT:C4392 https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis owl:Class CHEBI:61655 biolink:NamedThing steroid saponin Any saponin derived from a hydroxysteroid. tmpte7i6ely_mondo_relaxed.owl steroidal glycosides|glycosteroids|steroid glycoside|sterol glycoside|steryl glycosides|steroid glycosides|glycosyl steroids|steroid saponins|glycosyl steroid|steroidal glycoside|sterol glycosides|glycosteroid|steryl glycoside owl:Class CHEBI:26605 biolink:NamedThing saponin A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species. tmpte7i6ely_mondo_relaxed.owl sapogenin glycoside|saponins|sapogenin glycosides owl:Class MONDO:0019265 biolink:NamedThing diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-resistant focal form ICD10:E16.1|Orphanet:79298 owl:Class MONDO:0017186 biolink:NamedThing diazoxide-resistant hyperinsulinism Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. tmpte7i6ely_mondo_relaxed.owl diazoxide-resistant hyperinsulinemic hypoglycemia ICD10:E16.1|Orphanet:276585 owl:Class NCBITaxon:111520 biolink:NamedThing Penaeoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6684 biolink:NamedThing Dendrobranchiata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007119 biolink:NamedThing neck of femur tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018664 biolink:NamedThing neck of bone element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017292 biolink:NamedThing well-differentiated fetal adenocarcinoma of the lung Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss. tmpte7i6ely_mondo_relaxed.owl WDFA|pulmonary adenocarcinoma of fetal type|fetal lung adenocarcinoma|fetal adenocarcinoma|pulmonary endodermal tumor resembling fetal lung|well-differentiated fetal lung adenocarcinoma NCIT:C45509|ICD10:C34.3|ICDO:8333/3|ICD10:C34.8|UMLS:C1708045|UMLS:CN202865|UMLS:C1266047|ICD10:C34.1|Orphanet:284395|ICD10:C34.2 owl:Class MONDO:0005606 biolink:NamedThing tubular adenocarcinoma An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl carcinoma, tubular cell, malignant|tubular adenocarcinoma (morphologic abnormality)|tubular carcinoma|tubular adenocarcinoma DOID:4929|UMLS:C0205645|NCIT:C65192|MESH:D000230|ICDO:8211/3|EFO:0006500 owl:Class MONDO:0008441 biolink:NamedThing spastic paraplegia with associated extrapyramidal signs tmpte7i6ely_mondo_relaxed.owl spastic paraplegia with associated extrapyramidal signs MESH:C566681|OMIM:182800|UMLS:C1866852 owl:Class MONDO:0024357 biolink:NamedThing drug induced central sleep apnea tmpte7i6ely_mondo_relaxed.owl drug induced central sleep apnea SCTID:104831000119109|UMLS:C3662033 owl:Class MONDO:0030032 biolink:NamedThing chromosome 17q11.2 duplication syndrome, 1.4-mb tmpte7i6ely_mondo_relaxed.owl CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB|Nf1 Microduplication Syndrome 2022-04-01 OMIM:618874 Reason: duplicate. This will be merged with MONDO:0015350 17q11.2 microduplication syndrome owl:Class MONDO:0008868 biolink:NamedThing biliary malformation with renal tubular insufficiency tmpte7i6ely_mondo_relaxed.owl biliary malformation with renal tubular insufficiency|cholestatic jaundice and renal tubular insufficiency UMLS:C0400972|OMIM:210550|SCTID:235914003|MESH:C537726 owl:Class MONDO:0007182 biolink:NamedThing Machado-Joseph disease Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 3|autosomal dominant striatonigral degeneration|Machado disease|Machado-Joseph disease|Spinopontine atrophy|spinocerebellar atrophy type 3|Azorean disease of the nervous system|MJD|Azorean neurologic disease|Nigrospinodentatal Degeneration|spinocerebellar ataxia 3|SCA3|spinocerebellar atrophy 3|Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|Azorean disease DOID:1440|OMIM:109150|ICD10:G11.8|GARD:0006801|SCTID:91952008|Orphanet:98757|ICD9:336.8|UMLS:C0024408|NCIT:C84830|MESH:D017827 owl:Class MONDO:0015101 biolink:NamedThing Marin-Amat syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN197448|Orphanet:101104|ICD10:Q07.8 owl:Class MONDO:0007946 biolink:NamedThing jaw-winking syndrome Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis. tmpte7i6ely_mondo_relaxed.owl Marcus Gunn syndrome|Marcus-Gunn syndrome|abnormal innervation syndrome of eyelid|Maxillopalpebral synkinesis|Marcus-Gunn phenomenon|jaw-winking syndrome|pterygoid-levator synkinesis|jaw-blinking|Marcus Gunn phenomenon|mandibulo-palpebral synkinesis-ptosis syndrome|jaw-winking|familial Marcus Gunn phenomenon (subtype) DOID:560|ICD10:Q07.8|UMLS:C0266521|GARD:0006972|Orphanet:91412|ICD9:374.43|SCTID:5127009|ICD9:742.8|OMIM:154600|MedDRA:10064583|MESH:C535908 owl:Class GO:0120034 biolink:NamedThing positive regulation of plasma membrane bounded cell projection assembly Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006155 biolink:NamedThing colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl colon neuroendocrine tumor G1|colonic carcinoid tumor|colon neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the colon|grade 1 neuroendocrine neoplasm of colon|colon neuroendocrine neoplasm G1|carcinoid tumor of colon|colon NET G1|colon carcinoid tumor (disease)|colon carcinoid tumor EFO:1000188|NCIT:C5497 owl:Class MONDO:0020631 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 2 tmpte7i6ely_mondo_relaxed.owl IECEE2|epileptic encephalopathy, infantile or early childhood, 2 DOID:0080471|UMLS:CN757794|OMIM:617829 owl:Class MONDO:0020627 biolink:NamedThing epileptic encephalopathy, infantile or early childhood tmpte7i6ely_mondo_relaxed.owl OMIMPS:617711 See https://github.com/monarch-initiative/mondo/issues/271 owl:Class MONDO:0014513 biolink:NamedThing nemaline myopathy 10 Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene. tmpte7i6ely_mondo_relaxed.owl LMOD3 nemaline myopathy|nemaline myopathy type 10|nemaline myopathy 10|nemaline myopathy caused by mutation in LMOD3|NEM10 UMLS:C4015360|DOID:0110931|Orphanet:607|OMIM:616165 owl:Class MONDO:0015735 biolink:NamedThing severe congenital nemaline myopathy Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. tmpte7i6ely_mondo_relaxed.owl severe congenital (neonatal) NM Orphanet:171430|OMIM:256030|ICD10:G71.2|GARD:0012821|OMIM:615348|OMIM:615731|OMIM:616165|OMIM:161800 https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy owl:Class MONDO:0018208 biolink:NamedThing neurofibromatosis type 1 due to NF1 mutation or intragenic deletion tmpte7i6ely_mondo_relaxed.owl Von Recklinghausen disease due to NF1 mutation or intragenic deletion DOID:0111253|UMLS:CN204726|ICD10:Q85.0|OMIM:162200|Orphanet:363700 owl:Class HGNC:16892 biolink:NamedThing CD96 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3218 biolink:NamedThing EFEMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002204 biolink:NamedThing somatic recombination of immunoglobulin genes involved in immune response The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. tmpte7i6ely_mondo_relaxed.owl somatic recombination of antibody genes during immune response|somatic recombination of immunoglobulin genes during immune response owl:Class MONDO:0022936 biolink:NamedThing de Hauwere Leroy adriaenssens syndrome tmpte7i6ely_mondo_relaxed.owl iris dysplasia, orbital hypertelorism, and psychomotor retardation MESH:C535991|UMLS:C2931078 owl:Class MONDO:0003638 biolink:NamedThing lung meningioma A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas. tmpte7i6ely_mondo_relaxed.owl primary pulmonary meningioma|meningioma of the lung|lung meningioma (disease)|pulmonary meningioma|meningioma of lung|lung meningioma|lung primary meningioma|meningioma (disease) of lung UMLS:C1334450|NCIT:C5668|DOID:5764 owl:Class MONDO:0004243 biolink:NamedThing vulvar proximal-type epithelioid sarcoma An epithelioid sarcoma of the proximal type involving the vulva. tmpte7i6ely_mondo_relaxed.owl DOID:7491|NCIT:C40319|UMLS:C1520093 owl:Class MONDO:0005214 biolink:NamedThing vulva sarcoma A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of vulva|vulvar sarcoma|sarcoma of mammalian vulva|mammalian vulva sarcoma UMLS:C0238525|EFO:0002920|NCIT:C40317|DOID:2096|SCTID:254897006 owl:Class MONDO:0016719 biolink:NamedThing microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males. tmpte7i6ely_mondo_relaxed.owl microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities|microcephaly seizures intellectual disability heart disorders|microcephaly seizures mental retardation heart disorders Orphanet:2519|MESH:C537544|UMLS:C2931529|GARD:0003632|ICD10:Q87.8 owl:Class MONDO:0001096 biolink:NamedThing mediastinum ganglioneuroblastoma A ganglioneuroblastoma arising from the mediastinum. tmpte7i6ely_mondo_relaxed.owl ganglioneuroblastoma of the mediastinum|ganglioneuroblastoma of mediastinum|mediastinal ganglioneuroblastoma|ganglioneuroblastoma (disease) of mediastinum|mediastinum ganglioneuroblastoma (disease) NCIT:C6627|DOID:10661|UMLS:C1334653 owl:Class MONDO:0005035 biolink:NamedThing ganglioneuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. tmpte7i6ely_mondo_relaxed.owl ganglioneuroblastoma, malignant|ganglioneuroblastoma|ganglioneuroblastoma (disease)|ganglioneuroblastoma (morphologic abnormality) ganglioneuroblastoma (disease) HP:0006747|EFO:0000502|ICDO:9490/3|Orphanet:251877|NIFSTD:birnlex_12633|MedDRA:10017708|NCIT:C3790|SCTID:116381000119105|DOID:4163|ICD9:171.9|ONCOTREE:GNBL|UMLS:C0206718 owl:Class MONDO:0006892 biolink:NamedThing partial sensory epilepsy A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial). tmpte7i6ely_mondo_relaxed.owl MESH:D020937|EFO:1001090|DOID:3330 owl:Class ENVO:01000951 biolink:NamedThing natural environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007581 biolink:NamedThing exchondrosis of pinna, posterior tmpte7i6ely_mondo_relaxed.owl exchondrosis of pinna, posterior|Ear bump OMIM:133500|MESH:C565036|UMLS:C1851463 owl:Class MONDO:0020588 biolink:NamedThing lung PEComa A lung tumor that arises from perivascular epithelioid cells (PECs). tmpte7i6ely_mondo_relaxed.owl lung pecomatous tumor|lung PEComa NCIT:C142783 owl:Class MONDO:0007965 biolink:NamedThing melanoma, malignant familial intraocular tmpte7i6ely_mondo_relaxed.owl melanoma, malignant familial intraocular Orphanet:618|UMLS:C1835043|OMIM:155700|MESH:C563596 owl:Class GO:0045840 biolink:NamedThing positive regulation of mitotic nuclear division Any process that activates or increases the frequency, rate or extent of mitosis. tmpte7i6ely_mondo_relaxed.owl upregulation of mitosis|stimulation of mitosis|positive regulation of mitosis|up-regulation of mitosis|up regulation of mitosis|activation of mitosis|mitogenic activity owl:Class MONDO:0020689 biolink:NamedThing AIDS dementia complex A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) tmpte7i6ely_mondo_relaxed.owl Dementia Complex, AIDS-related|Dementias, HIV|Acquired immune deficiency syndrome dementia complex|HIV-associated dementia|Encephalopathies, AIDS|HIV ASSOC COGNITIVE MOTOR COMPLEX|Complex, AIDS-related Dementia|AIDS RELAT DEMENTIA COMPLEX|Dementia associated with acquired immunodeficiency syndrome|AIDS Encephalopathy|HIV Associated Cognitive Motor Complex|HIV-Associated Cognitive Motor Complex|Dementia Complex, Acquired Immune Deficiency Syndrome|AIDS dementia|HIV 1 Cognitive and Motor Complex|HIV 1 Associated Cognitive Motor Complex|DEMENTIA COMPLEX AIDS RELAT|AIDS related Dementia Complex|HIV Encephalopathies|HIV associated cognitive and motor complex|Acquired immune deficiency syndrome-related dementia|Dementia, HIV|HIV Dementias|acquired immune deficiency syndrome-related dementia|Encephalopathies, HIV|Dementia Complex, AIDS|AIDS - Acquired immune deficiency syndrome dementia complex|AIDS dementia complex|AIDS related cognitive impairment|AIDS Dementia|Encephalopathy, HIV|AIDS-related Dementia Complex|AIDS Dementia Complex|HIV-1 Cognitive and Motor Complex|ADC|Complex, AIDS Dementia|AIDS Encephalopathies|Encephalopathy, AIDS|Dementia associated with AIDS|acquired immune deficiency syndrome dementia complex|ADC - Acquired immune deficiency syndrome dementia complex|HIV Encephalopathy|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|HIV Dementia|HIV encephalitis|AIDS with dementia (disorder)|Acquired-Immune Deficiency Syndrome Dementia Complex|Dementia Complex, AIDS related|HIV-1-Associated Cognitive Motor Complex SCTID:421529006|ICD9:294.8|UMLS:C0001849|NCIT:C2864|MESH:D015526|EFO:0002608|GARD:0008250 owl:Class MONDO:0032673 biolink:NamedThing basal ganglia calcification, idiopathic, 7, autosomal recessive tmpte7i6ely_mondo_relaxed.owl IBGC7|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE OMIM:618317 owl:Class MONDO:0007163 biolink:NamedThing episodic ataxia type 2 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. tmpte7i6ely_mondo_relaxed.owl APCA|ataxia, familial, paroxysmal|ataxia, episodic, with Nystagmus|episodic ataxia, Nystagmus-associated|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|familial paroxysmal ataxia|Acetazolamide-responsive episodic ataxia syndrome|CAPA|hereditary episodic ataxia caused by mutation in CACNA1A|episodic ataxia, type 2|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|Cerebellopathy, hereditary paroxysmal|EA2|episodic ataxia type 2|episodic ataxia with nystagmus|ataxia, familial paroxysmal|Nystagmus-associated episodic ataxia|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|CACNA1A hereditary episodic ataxia MESH:C535506|Orphanet:97|ICD10:G11.8|GARD:0009602|SCTID:420932006|UMLS:C1720416|OMIM:108500|DOID:0050990 owl:Class MONDO:0001246 biolink:NamedThing typhus A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus. tmpte7i6ely_mondo_relaxed.owl louse-borne rickettsiosis|endemic flea-borne typhus|flea-borne typhus|jail fever|ship fever|typhus exanthematique|petechial fever|louse-borne [epidemic] typhus|rat flea typhus|classical typhus|flea typhus|typhus-group rickettsiosis|prison fever|Moscow typhus|Urban typhus|murine [endemic] typhus|Mexican typhus|famine fever|exanthematic typhus fever|murine typhus|endemic typhus fever|typhus-group rickettsiae disease|louse-borne typhus|classical typhus (fever)|epidemic louse-borne typhus fever due to Rickettsia prowazekii|epidemic (louse-borne) typhus|exanthematous typhus|hospital fever|flea-borne rickettsiosis|epidemic louse-borne typhus|shop typhus|European typhus|typhus fever GARD:0007833|ICD9:081.9|ICD10:A75.1|ICD10:A75.0|ICD9:081.0|ICD10:A75|UMLS:C0041472|ICD9:080|Orphanet:102023|SCTID:240613006|ICD10:A75.3|ICD10:A75.9|DOID:11256|UMLS:C0041471|ICD10:A75.2|NCIT:C84689 owl:Class MONDO:0023157 biolink:NamedThing fibular hypoplasia scapulo pelvic dysplasia absent tmpte7i6ely_mondo_relaxed.owl GARD:0002333 https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent owl:Class MONDO:0015387 biolink:NamedThing nasolacrimal duct cyst Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. tmpte7i6ely_mondo_relaxed.owl nasolacrimal mucocele|dacryocele|dacryocystocele Orphanet:141083|ICD10:H04.6 owl:Class MONDO:0014419 biolink:NamedThing ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. tmpte7i6ely_mondo_relaxed.owl PTBHS|PORETTI-Boltshauser syndrome|ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|Poretti-Boltshauser syndrome ICD10:G11.1|OMIM:615960|Orphanet:370022|UMLS:C4014821 owl:Class MONDO:0032790 biolink:NamedThing neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES|NEDCFSA OMIM:618505 owl:Class HGNC:3969 biolink:NamedThing FSHR tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000610 biolink:NamedThing negative regulation of thyroid hormone generation Any process that stops, prevents or reduces the frequency, rate or extent of thyroid hormone generation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0065010 biolink:NamedThing extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. tmpte7i6ely_mondo_relaxed.owl extracellular membrane-enclosed organelle owl:Class GO:0043230 biolink:NamedThing extracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024483 biolink:NamedThing urothelial hyperplasia Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003 tmpte7i6ely_mondo_relaxed.owl urothelial hyperplasia|urothelium hyperplasia NCIT:C27877 owl:Class MONDO:0009230 biolink:NamedThing fibrosclerosis, multifocal tmpte7i6ely_mondo_relaxed.owl fibrosclerosis, multifocal|mediastinal fibrosis, familial|multifocal fibrosclerosis|retroperitoneal fibrosis, familial SCTID:111210001|Orphanet:49041|ICD10:M35.5|OMIM:228800|MESH:C537375|ICD9:710.8|GARD:0005697 owl:Class MONDO:0022020 biolink:NamedThing Boudhina Yedes Khiari syndrome Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions tmpte7i6ely_mondo_relaxed.owl GARD:0000945|UMLS:C2931668|MESH:C537939 https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome owl:Class MONDO:0022787 biolink:NamedThing cleft palate heart disease polydactyly absent tibia tmpte7i6ely_mondo_relaxed.owl GARD:0001389 https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia owl:Class MONDO:0019141 biolink:NamedThing porokeratosis of Mibelli Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. tmpte7i6ely_mondo_relaxed.owl ICD9:757.39|ICD10:Q82.8|Orphanet:735|SCTID:80432009|GARD:0004438|UMLS:C0949506|OMIM:175800|OMIM:175900 owl:Class MONDO:0006078 biolink:NamedThing AIDS-related primary central nervous system lymphoma A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients. tmpte7i6ely_mondo_relaxed.owl AIDS related lymphoma of the primary central nervous system|AIDS related lymphoma of primary central nervous system|AIDS related primary CNS lymphoma|AIDS-related lymphoma of primary central nervous system|AIDS-related lymphoma of the primary central nervous system|AIDS-related primary CNS lymphoma|AIDS related primary central nervous system lymphoma NCIT:C8284|UMLS:C0281241|EFO:1000077 owl:Class MONDO:0018889 biolink:NamedThing hyaline body myopathy tmpte7i6ely_mondo_relaxed.owl myosin storage myopathy ICD10:G71.2|OMIM:255160|Orphanet:53698|DOID:0111267|OMIM:608358|GARD:0007148 owl:Class MONDO:0015051 biolink:NamedThing tubular duplication of the esophagus Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. tmpte7i6ely_mondo_relaxed.owl ICD10:Q39.8|Orphanet:100048 owl:Class MONDO:0019619 biolink:NamedThing duplication of the esophagus tmpte7i6ely_mondo_relaxed.owl Orphanet:91357|ICD10:Q39.8 owl:Class MONDO:0002355 biolink:NamedThing glottis carcinoma A carcinoma that arises from epithelial cells of the glottis. tmpte7i6ely_mondo_relaxed.owl glottic carcinoma|glottis cancer|cancer of the glottis|carcinoma of glottis|cancer of glottis|carcinoma of the glottis|glottis carcinoma|glottic throat cancer DOID:2599|SCTID:372103002|NCIT:C4923|UMLS:C0740083 owl:Class MONDO:0006493 biolink:NamedThing Warthin tumor An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland. tmpte7i6ely_mondo_relaxed.owl papillary cystadenoma lymphomatosum|adenolymphoma|papillary cystadenoma lymphomatosum (formerly)|Warthin's tumor|Warthin tumor UMLS:C0001429|SCTID:422470007|ICDO:8561/0|GARD:0008569|EFO:1000625|NCIT:C2854|MESH:D000235 https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor owl:Class MONDO:0021460 biolink:NamedThing benign neoplasm of salivary gland A benign neoplasm that involves the saliva-secreting gland. tmpte7i6ely_mondo_relaxed.owl benign tumor of the salivary gland|benign neoplasm of the salivary gland|benign salivary gland tumor|benign salivary gland neoplasm|saliva-secreting gland benign neoplasm|salivary gland neoplasm, benign|benign tumor of salivary gland UMLS:C0347206|NCIT:C4600|SCTID:255154009 owl:Class HGNC:3625 biolink:NamedThing FCN3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001804 biolink:NamedThing Hypoplastic fingernail Underdevelopment of a fingernail. tmpte7i6ely_mondo_relaxed.owl Small fingernail|Underdeveloped fingernail UMLS:C1856786 human_phenotype owl:Class HP:0001792 biolink:NamedThing Small nail A nail that is diminished in length and width, i.e., underdeveloped nail. tmpte7i6ely_mondo_relaxed.owl Nail hypoplasia|Hypoplastic nail|Small nail|Hypoplastic nails|Small nails UMLS:C0263523|SNOMEDCT_US:11375002 HP:0001813 human_phenotype owl:Class HP:0011029 biolink:NamedThing Internal hemorrhage The presence of hemorrhage within the body. tmpte7i6ely_mondo_relaxed.owl Internal haemorrhage|Internal bleeding UMLS:C1390214 peter 2011-03-03T10:26:26Z human_phenotype owl:Class MONDO:0003367 biolink:NamedThing gastric leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of stomach|gastric leiomyosarcoma|stomach leiomyosarcoma|gastric leiomyosarcoma (disease) gastric leiomyosarcoma (disease) UMLS:C0744295|HP:0031025|SCTID:447785000|NCIT:C27200|DOID:5280 owl:Class NCBITaxon:426455 biolink:NamedThing Rhipicephalus tmpte7i6ely_mondo_relaxed.owl Rhipicephalus|Rhipicephalus (Rhipicephalus) PMID:14707501|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34630 biolink:NamedThing Rhipicephalus tmpte7i6ely_mondo_relaxed.owl Rhipicephalus GC_ID:1|PMID:14707501 ncbi_taxonomy owl:Class MONDO:0008396 biolink:NamedThing oculodental syndrome, Rutherfurd type Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy with gum Hypertrophy|Rutherfurd syndrome|gingival hypertrophy corneal dystrophy|gingival hypertrophy-corneal dystrophy|corneal dystrophy with gum hypertrophy|gingival Hypertrophy with corneal dystrophy ICD10:Q87.8|MESH:C537732|OMIM:180900|GARD:0000212|ICD9:759.89|Orphanet:2709|SCTID:699754008|UMLS:C0796140 owl:Class MONDO:0006618 biolink:NamedThing vibratory urticaria This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful. tmpte7i6ely_mondo_relaxed.owl EFO:1000775|ICD9:708.4|UMLS:C0157743|SCTID:51247001|Wikipedia:Urticaria#Vibratory_angioedema|ICD10:L50.4|GARD:0009806|DOID:1554 Editor note: TODO add ECTO owl:Class MONDO:0007174 biolink:NamedThing Lown-Ganong-Levine syndrome Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). tmpte7i6ely_mondo_relaxed.owl syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias|LGL syndrome|atrial tachyarrhythmia with short PR interval|Lown-Ganong-Levine syndrome DOID:13087|UMLS:C1862387|ICD9:426.81|MESH:D008151|UMLS:C0024054|OMIM:108950|SCTID:55475008|ICD10:I45.6|Orphanet:844|MedDRA:10024984 owl:Class MONDO:0000408 biolink:NamedThing fetal alcohol spectrum disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. tmpte7i6ely_mondo_relaxed.owl FASDs|alcohol related birth defects|birth defects, alcohol-related|syndrome, fetal alcohol|alcohol-related neurodevelopmental disorder (ARND) - type|alcohol-related birth defects (ARBD) - type|FAEs (fetal alcohol effects)|partial fetal alcohol syndrome|alcohol-related birth defects|fetal alcohol syndrome (FAS) - type|alcohol related neurodevelopmental disorder|FAE (fetal alcohol effects)|fetal alcohol spectrum disorders|FASD|fetal alcohol syndrome|growth retardation, facial abnormalities, and central nervous system dysfunction UMLS:C2985290|GARD:0000599|UMLS:CN200663|DOID:0050696|UMLS:CN036067|MESH:D063647|NCIT:C92780|SCTID:609437000 owl:Class GO:0099565 biolink:NamedThing chemical synaptic transmission, postsynaptic The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol. tmpte7i6ely_mondo_relaxed.owl postsynaptic process involved in chemical synaptic transmission owl:Class GO:1905114 biolink:NamedThing cell surface receptor signaling pathway involved in cell-cell signaling Any cell surface receptor signaling pathway that is involved in cell-cell signaling. tmpte7i6ely_mondo_relaxed.owl cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signaling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor linked signalling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling owl:Class MONDO:0009751 biolink:NamedThing neuropathy, hereditary sensory, atypical A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary sensory, atypical|atypical hereditary sensory neuropathy OMIM:256860|DOID:0070160|MESH:C564946|UMLS:C1850384 owl:Class MONDO:0004080 biolink:NamedThing glottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of glottis|glottic epidermoid carcinoma|glottic squamous cell carcinoma|squamous cell carcinoma of the glottis|epidermoid carcinoma of glottis|glottis epidermoid carcinoma|glottis squamous cell carcinoma|epidermoid carcinoma of the glottis DOID:7031|NCIT:C8186|UMLS:C0280325 owl:Class UBERON:0005031 biolink:NamedThing mucosa of upper lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018547 biolink:NamedThing acute tricyclic antidepressant poisoning Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death. tmpte7i6ely_mondo_relaxed.owl Orphanet:43117|UMLS:CN227537|ICD10:T43.0 owl:Class MONDO:0043303 biolink:NamedThing hyperacusis A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. tmpte7i6ely_mondo_relaxed.owl hyperacusia|oversensitive hearing|hyperacuses|hyperesthesia, auditory|loudness recruitment|hyperesthesias, auditory|loudness Recruitments|recruitment, loudness|sounds seem unnaturally loud|hyperacusis|disturbance, loudness perception|perception disturbance, loudness|auditory hyperesthesia|hyperacusias|low tolerance to sound|phonophobia|loudness perception disturbance|loudness perception disturbances|auditory Hyperesthesias|Phonophobias|disturbances, loudness perception|perception disturbances, loudness MESH:D012001|GARD:0009655|NCIT:C116366|SCTID:25289003 owl:Class MONDO:0011058 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 9 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 9|deafness, autosomal dominant 9|autosomal dominant nonsyndromic deafness caused by mutation in COCH|autosomal dominant nonsyndromic deafness 9|deafness, autosomal dominant type 9|COCH autosomal dominant nonsyndromic deafness|DFNA9|autosomal dominant deafness 9 DOID:0110593|OMIM:601369|MESH:C563335|ICD10:H90.3|UMLS:C1832425 owl:Class GO:0046997 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6186 biolink:NamedThing IVD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025622 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 tmpte7i6ely_mondo_relaxed.owl CMTMA1 OMIM:500013 owl:Class GO:0002826 biolink:NamedThing negative regulation of T-helper 1 type immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response. tmpte7i6ely_mondo_relaxed.owl downregulation of T-helper 1 type immune response|down-regulation of T-helper 1 type immune response|inhibition of T-helper 1 type immune response|down regulation of T-helper 1 type immune response owl:Class GO:0050922 biolink:NamedThing negative regulation of chemotaxis Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpte7i6ely_mondo_relaxed.owl downregulation of chemotaxis|down regulation of chemotaxis|down-regulation of chemotaxis|inhibition of chemotaxis owl:Class GO:0032102 biolink:NamedThing negative regulation of response to external stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl down-regulation of response to external stimulus|inhibition of response to external stimulus|down regulation of response to external stimulus|downregulation of response to external stimulus owl:Class MONDO:0011733 biolink:NamedThing parasomnia, sleep bruxism type tmpte7i6ely_mondo_relaxed.owl nocturnal facio-mandibular myoclonus|parasomnia, sleep bruxism type|faciomandibular myoclonus, nocturnal|parasomnia, Sleeptalking type|PSMNSB OMIM:606840|MESH:C536389|GARD:0010195 owl:Class UBERON:0016570 biolink:NamedThing lamina of gray matter of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:76775 biolink:NamedThing EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*). tmpte7i6ely_mondo_relaxed.owl phosphoric monoester hydrolase (EC 3.1.3.*) inhibitor|phosphoric monoester hydrolase inhibitor|EC 3.1.3.* inhibitors|phosphoric monoester hydrolase inhibitors|EC 3.1.3.* (phosphoric monoester hydrolase) inhibitors|inhibitors of phosphoric monoester hydrolase (EC 3.1.3.*)|EC 3.1.3.* inhibitor|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitors|inhibitors of phosphoric monoester hydrolase|inhibitor of phosphoric monoester hydrolase|inhibitor of phosphoric monoester hydrolase (EC 3.1.3.*) owl:Class MONDO:0014633 biolink:NamedThing myoclonic-atonic epilepsy tmpte7i6ely_mondo_relaxed.owl mae|myoclonic-atonic epilepsy Orphanet:1942|UMLS:C4085238|OMIM:616421 owl:Class MONDO:0043895 biolink:NamedThing ankle injury Harm or hurt to the ankle or ankle joint usually inflicted by an external source. tmpte7i6ely_mondo_relaxed.owl syndesmotic Injuries|ankle injury|injury of ankle|ankle Sprains|syndesmotic injury|Injuries, ankle|injury, ankle|sprain, ankle|Sprains, ankle|tarsal region injury|ankle sprain|injury, syndesmotic|injury of tarsal region|Injuries, syndesmotic EFO:1001832|SCTID:125603006|MESH:D016512 owl:Class MONDO:0005326 biolink:NamedThing sunburn An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. tmpte7i6ely_mondo_relaxed.owl EFO:0003958|ICD10:L55|ICD9:692.71|SCTID:403194002|MESH:D013471|NCIT:C3395 owl:Class MONDO:0014377 biolink:NamedThing developmental and epileptic encephalopathy, 24 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene. tmpte7i6ely_mondo_relaxed.owl EIEE24|epileptic encephalopathy, early infantile, type 24|early infantile epileptic encephalopathy caused by mutation in HCN1|epileptic encephalopathy, early infantile, 24|DEE24|HCN1 early infantile epileptic encephalopathy UMLS:C4014531|DOID:0080429|OMIM:615871 owl:Class CL:0000894 biolink:NamedThing DN1 thymic pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. tmpte7i6ely_mondo_relaxed.owl DN1 thymic pro-T-lymphocyte|DN1 thymic pro-T-cell|DN1 thymic progenitor T cell|preT.DN1.Th|double negative 1|DN1 thymocyte|DN1 thymic pro-T lymphocyte cell owl:Class GO:0044273 biolink:NamedThing sulfur compound catabolic process The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpte7i6ely_mondo_relaxed.owl sulfur compound degradation|sulfur catabolism|sulfur catabolic process|sulfur compound breakdown|sulfur compound catabolism owl:Class GO:0006790 biolink:NamedThing sulfur compound metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpte7i6ely_mondo_relaxed.owl sulphur metabolic process|sulfur metabolism|sulphur metabolism owl:Class GO:0019212 biolink:NamedThing phosphatase inhibitor activity Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019208 biolink:NamedThing phosphatase regulator activity Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020633 biolink:NamedThing anaplastic cancer tmpte7i6ely_mondo_relaxed.owl anaplastic malignant neoplasm NCIT:C36025|UMLS:C1332287 owl:Class MONDO:0023644 biolink:NamedThing lip and oral cavity carcinoma A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl oral cancer|lip and oral cavity carcinoma|lip and oral cavity cancer|oral carcinoma GARD:0009342|UMLS:C0220641|GARD:0009360|NCIT:C9315 https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer owl:Class HGNC:21285 biolink:NamedThing ADCY10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007868 biolink:NamedThing hyperekplexia 1 A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. tmpte7i6ely_mondo_relaxed.owl Sthe|Kok disease|hyperekplexia, hereditary 1|startle disease, familial|startle reaction, exaggerated|Stiff-Man syndrome, congenital|hyperekplexia 1|HKPX1|hyperekplexia type 1|Stiff-baby syndrome|exaggerated startle reaction|hyperekplexia, hereditary type 1|Stiff-Person syndrome, congenital OMIM:149400|Orphanet:3197|ICD10:G25.8|DOID:0060696 owl:Class CL:0002482 biolink:NamedThing dermal melanocyte A melanocyte that produces pigment in the dermis. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-12-03T03:17:05Z cell owl:Class MONDO:0006796 biolink:NamedThing hypertensive encephalopathy Encephalopathy resulting from hypertension. tmpte7i6ely_mondo_relaxed.owl ICD10:I67.4|SCTID:50490005|ICD9:437.2|EFO:1000976|MESH:D020343|DOID:9427|MedDRA:10020803|UMLS:C0151620|NCIT:C3503 owl:Class MONDO:0019649 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis tmpte7i6ely_mondo_relaxed.owl idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis ICD10:N04.1|Orphanet:93206|UMLS:CN206521 owl:Class MONDO:0019067 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. tmpte7i6ely_mondo_relaxed.owl ICD10:N04.0|Orphanet:69061|OMIM:615861 owl:Class MONDO:0010583 biolink:NamedThing Dyggve-Melchior-Clausen syndrome, X-linked X-linked form of Dyggve-Melchior-Clausen disease. tmpte7i6ely_mondo_relaxed.owl Dyggve-Melchior-Clausen syndrome, X-linked|X-linked Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen disease, X-linked Orphanet:239|UMLS:C1844654|OMIM:304950 owl:Class HGNC:17761 biolink:NamedThing TREM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013666 biolink:NamedThing Stickler syndrome, type 5 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene. tmpte7i6ely_mondo_relaxed.owl STL5|COL9A2 autosomal recessive Stickler syndrome|STICKLER syndrome, type V|autosomal recessive Stickler syndrome caused by mutation in COL9A2 Orphanet:250984|OMIM:614284|Orphanet:828|UMLS:C3280342 owl:Class HGNC:950 biolink:NamedThing BAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005974 biolink:NamedThing strongyloidiasis An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. tmpte7i6ely_mondo_relaxed.owl disseminated strongyloidiasis|Anguillulosis|infection by Strongyloides|Anguilluliasis ICD10:B78.7|ICD10:B78|UMLS:C0085810|ICD10:B78.1|NCIT:C128398|MESH:D013322|Orphanet:76|GARD:0008195|SCTID:187176005|UMLS:C0348996|ICD10:B78.0|MedDRA:10042254|DOID:10955|ICD9:127.2|UMLS:C0038463|EFO:0007501|ICD10:B78.9 owl:Class HGNC:11777 biolink:NamedThing TGM1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22314 biolink:NamedThing alkali metal atom tmpte7i6ely_mondo_relaxed.owl Alkalimetalle|alkali metal|metales alcalinos|alkali metals|metaux alcalins|Alkalimetall|metal alcalino|metal alcalin owl:Class GO:0060322 biolink:NamedThing head development The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002227 biolink:NamedThing White eyelashes White color (lack of pigmentation) of the eyelashes. tmpte7i6ely_mondo_relaxed.owl White eyelashes|Grey eyelashes|Depigmented eyelashes|Pale eyelashes|Blonde eyelashes UMLS:C4280578|UMLS:C1836736 human_phenotype owl:Class HP:0009887 biolink:NamedThing Abnormality of hair pigmentation An abnormality of hair pigmentation (color). tmpte7i6ely_mondo_relaxed.owl Abnormality of hair color|Abnormality of hair colour|Abnormality of hair pigmentation UMLS:C4024172 peter 2009-04-30T06:00:53Z human_phenotype owl:Class UBERON:0011755 biolink:NamedThing female labial swelling tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011754 biolink:NamedThing genital swelling tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008373 biolink:NamedThing sialyltransferase activity Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016757 biolink:NamedThing glycosyltransferase activity Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl transferase activity, transferring other glycosyl groups|transglycosylase activity|transglycosidase activity|transferase activity, transferring glycosyl groups owl:Class GO:0010951 biolink:NamedThing negative regulation of endopeptidase activity Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050669 biolink:NamedThing negative regulation of homocysteine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpte7i6ely_mondo_relaxed.owl negative regulation of Hcy metabolism|inhibition of homocysteine metabolic process|negative regulation of homocysteine metabolism|negative regulation of Hcy metabolic process|down regulation of homocysteine metabolic process|down-regulation of homocysteine metabolic process|downregulation of homocysteine metabolic process owl:Class GO:0050666 biolink:NamedThing regulation of homocysteine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. tmpte7i6ely_mondo_relaxed.owl regulation of Hcy metabolism|regulation of Hcy metabolic process|regulation of homocysteine metabolism owl:Class MONDO:0014652 biolink:NamedThing exudative vitreoretinopathy 6 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene. tmpte7i6ely_mondo_relaxed.owl exudative vitreoretinopathy 6|exudative vitreoretinopathy caused by mutation in ZNF408|exudative vitreoretinopathy type 6|ZNF408 exudative vitreoretinopathy|EVR6 Orphanet:891|OMIM:616468|UMLS:C4225316|DOID:0111410 owl:Class HGNC:28949 biolink:NamedThing IQCB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018864 biolink:NamedThing Kikuchi-Fujimoto disease Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat. tmpte7i6ely_mondo_relaxed.owl histiocytic necrotising lymphadenitis|histiocytic necrotizing lymphadenitis|Kikuchi's disease|Kikuchi-Fujimoto's disease|Kikuchi necrotizing lymphadenitis|Kikuchi disease|nosocomial Kikuchi's disease SCTID:127217009|ICD10:I88.1|NCIT:C71719|GARD:0006834|UMLS:C0398367|MESH:D020042|Orphanet:50918 owl:Class MONDO:0003844 biolink:NamedThing central nervous system lipoma A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. tmpte7i6ely_mondo_relaxed.owl lipoma of the central nervous system|lipoma of the CNS|lipoma of central nervous system|central nervous system lipoma|lipoma of CNS|CNS lipoma UMLS:C1332885|DOID:6293|NCIT:C5451 owl:Class MONDO:0021139 biolink:NamedThing congenital or acquired tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2244 biolink:NamedThing COQ7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005052 biolink:NamedThing irritable bowel syndrome Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two). tmpte7i6ely_mondo_relaxed.owl spastic colon|irritable bowel syndrome|mucus colitis|irritable colon|psychogenic IBS|IBS|IBD ICD10:K58|SCTID:10743008|NCIT:C82343|EFO:0000555|DOID:9778|ICD9:564.1|UMLS:C0022104|MESH:D043183|ICD10:K58.9 Editor note: consider merging with MONDO:0005265 owl:Class MONDO:0022822 biolink:NamedThing congenital cardiovascular shunt tmpte7i6ely_mondo_relaxed.owl GARD:0006154 https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt owl:Class GO:0006833 biolink:NamedThing water transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042044 biolink:NamedThing fluid transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000135 biolink:NamedThing Hypogonadism A decreased functionality of the gonad. tmpte7i6ely_mondo_relaxed.owl Decreased activity of gonads SNOMEDCT_US:48130008|UMLS:C0020619|MSH:D007006 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. human_phenotype owl:Class HP:0008373 biolink:NamedThing Puberty and gonadal disorders tmpte7i6ely_mondo_relaxed.owl Puberty and gonadal disorders UMLS:C4024685 peter 2008-04-04T12:35:00Z HP:0000827 human_phenotype owl:Class NCBITaxon:4890 biolink:NamedThing Ascomycota tmpte7i6ely_mondo_relaxed.owl sac fungi|ascomycetes GC_ID:1|PMID:17572334 ncbi_taxonomy owl:Class NCBITaxon:451864 biolink:NamedThing Dikarya tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:17010206|PMID:17051209|PMID:16151185|PMID:17572334|PMID:15689432 ncbi_taxonomy owl:Class MONDO:0014326 biolink:NamedThing nemaline myopathy 9 Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy 9|nemaline myopathy caused by mutation in KLHL41|NEM9|nemaline myopathy type 9|KLHL41 nemaline myopathy UMLS:C3810384|DOID:0110929|Orphanet:607|OMIM:615731 owl:Class MONDO:0021131 biolink:NamedThing frontal lobe ependymal tumor An ependymal tumor affecting the frontal lobe of the brain. tmpte7i6ely_mondo_relaxed.owl frontal lobe ependymal tumor|ependymal tumor of frontal lobe NCIT:C131573|UMLS:C4330009 owl:Class MONDO:0013404 biolink:NamedThing hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. tmpte7i6ely_mondo_relaxed.owl psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase|hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency DOID:0111039|Orphanet:88618|OMIM:613752|ICD10:E72.1|GARD:0013177|UMLS:C3151058|UMLS:C4510276|SCTID:724039002 owl:Class MONDO:0000351 biolink:NamedThing disorder of methionine catabolism An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process. tmpte7i6ely_mondo_relaxed.owl hypermethioninemia|inborn methionine catabolic process disorder|rare inborn error of methionine catabolic process|inborn error of methionine catabolic process SCTID:43123004|UMLS:C4048705|HP:0003235|DOID:0050544 owl:Class MONDO:0044998 biolink:NamedThing carpal region disorder A disease or disorder that involves the carpal region. tmpte7i6ely_mondo_relaxed.owl disorder of wrist region|disease of carpal region|carpal region disease or disorder|disease or disorder of carpal region|disorder of carpal region|wrist region disease UMLS:C1290872|SCTID:128130001 owl:Class MONDO:0044990 biolink:NamedThing hand disorder A disease or disorder that involves the manus. tmpte7i6ely_mondo_relaxed.owl disorder of manus|hand disease|disease or disorder of manus|manus disease or disorder|disease of manus|manus disease|disorder of hand SCTID:118933004|UMLS:C1290871 owl:Class MONDO:0019498 biolink:NamedThing tungiasis An disease or disorder caused by infection with Tunga penetrans. tmpte7i6ely_mondo_relaxed.owl Sarcopsylla penetrans|Tunga penetrans infectious disease|T penetrans|S penetrans|chigger flea|Tunga penetrans caused disease or disorder|Tunga penetrans disease or disorder|Tunga penetrans ICD9:134.1|EFO:1001445|SCTID:64612002|UMLS:C0277356|GARD:0000393|Orphanet:879|MESH:D058285|ICD10:B88.1|DOID:0050266 https://rarediseases.info.nih.gov/diseases/393/tungiasis owl:Class MONDO:0002875 biolink:NamedThing parasitic ectoparasitic infectious disease Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. tmpte7i6ely_mondo_relaxed.owl ectoparasitism|infestation, ectoparasitic|ectoparasitic infestation|Infestations, ectoparasitic UMLS:C0013578|MESH:D004478|DOID:4110 owl:Class MONDO:0000412 biolink:NamedThing neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. tmpte7i6ely_mondo_relaxed.owl DOID:0050702 Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29 owl:Class MONDO:0001470 biolink:NamedThing anal margin squamous cell carcinoma A squamous cell carcinoma arising from the perianal skin. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of the anal margin|squamous cell carcinoma of anal margin|perianal skin squamous cell carcinoma|anal margin squamous cell carcinoma NCIT:C6925|ICD9:173.5|ICD10:C44.520|DOID:12239|UMLS:C1412037|SCTID:255084004 owl:Class MONDO:0006082 biolink:NamedThing anal squamous cell carcinoma A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. tmpte7i6ely_mondo_relaxed.owl epidermoid anal carcinoma|ANSC|epidermoid carcinoma of anus|anal squamous cell carcinoma|anal squamous cell cancer|squamous cell carcinoma of anus|squamous cell anal carcinoma|squamous cell carcinoma of the anus|squamous cell carcinoma - anus|epidermoid carcinoma of the anus|anus squamous cell carcinoma SCTID:255084004|NCIT:C9161|UMLS:C1412036|ONCOTREE:ANSC|EFO:1000081|DOID:5525 owl:Class MONDO:0017168 biolink:NamedThing benign epithelial tumor of salivary glands tmpte7i6ely_mondo_relaxed.owl OMIM:181030|ICD10:D11.7|UMLS:CN202592|ICD10:D11.0|Orphanet:276148 owl:Class HP:0004447 biolink:NamedThing Poikilocytosis The presence of abnormally shaped erythrocytes. tmpte7i6ely_mondo_relaxed.owl UMLS:C0221281|SNOMEDCT_US:165479004 General description for abnormally shaped erythrocytes. peter 2008-03-18T10:06:00Z human_phenotype owl:Class HP:0001877 biolink:NamedThing Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). tmpte7i6ely_mondo_relaxed.owl Abnormality of erythrocytes|Abnormality of erythroid lineage cell|Abnormality of red blood cells UMLS:C4020862|SNOMEDCT_US:12222001|UMLS:C0391870 HP:0010973 human_phenotype owl:Class MONDO:0013890 biolink:NamedThing congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. tmpte7i6ely_mondo_relaxed.owl myopathy, centronuclear, type 4|CNM4|myopathy, centronuclear, 4|centronuclear myopathy type 4 ICD10:G71.2|Orphanet:319160|OMIM:614807|SCTID:764945007|UMLS:C3553709 owl:Class GO:0006521 biolink:NamedThing regulation of cellular amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. tmpte7i6ely_mondo_relaxed.owl regulation of amino acid metabolism owl:Class MONDO:0008566 biolink:NamedThing thyroid cancer, nonmedullary, 2 tmpte7i6ely_mondo_relaxed.owl thyroid cancer, nonmedullary, type 2|thyroid carcinoma, follicular|thyroid cancer, follicular|FTC|thyroid cancer, nonmedullary, 2|NMTC2 MESH:C572845|OMIM:188470|GARD:0005206|Orphanet:319487 owl:Class MONDO:0017895 biolink:NamedThing familial papillary or follicular thyroid carcinoma A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients. tmpte7i6ely_mondo_relaxed.owl familial nonmedullary thyroid gland carcinoma|FNMTC|familial pure nonmedullary thyroid carcinoma NCIT:C118829|OMIM:188470|OMIM:603744|Orphanet:319487|ICD10:C73|OMIM:603386|OMIM:616535|OMIM:606240|OMIM:188550|UMLS:CN227215|UMLS:C3896673|OMIM:616534 owl:Class HP:0012532 biolink:NamedThing Chronic pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. tmpte7i6ely_mondo_relaxed.owl Long-lasting pain|Chronic pain MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001 Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. peter 2013-12-15T09:46:55Z human_phenotype owl:Class MONDO:0044876 biolink:NamedThing drug hypersensitivity syndrome A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. tmpte7i6ely_mondo_relaxed.owl Drug hypersensitivity syndrome|Drug reaction with eosinophilia and Systemic symptoms|dress|DHS NCIT:C112208 owl:Class HsapDv:0000124 biolink:NamedThing 30-year-old human stage Adult stage that refers to an adult who is over 30 and under 31. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011352 biolink:NamedThing neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia tmpte7i6ely_mondo_relaxed.owl neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia MESH:C566352|OMIM:603641|UMLS:C1863649 owl:Class HGNC:1943 biolink:NamedThing CHN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016096 biolink:NamedThing malignant non-dysgerminomatous germ cell tumor of ovary A malignant germ cell tumor other than dysgerminoma that arises from the ovary. tmpte7i6ely_mondo_relaxed.owl non-dysgerminomatous germ cell cancer of ovary|ovarian Nondysgerminomatous germ cell tumor|ovarian non-dysgerminomatous germ cell tumor NCIT:C102870|UMLS:C3640983|Orphanet:206538|UMLS:CN200863|ICD10:C56 owl:Class MONDO:0021656 biolink:NamedThing nongerminomatous germ cell tumor A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. tmpte7i6ely_mondo_relaxed.owl Nongerminomatous germ cell tumor|non-germinomatous germ cell tumor|non-dysgerminomatous germ cell tumor|Nongerminomatous germ cell tumor Including central nervous system|non-seminomatous germ cell tumor|NSGCT ONCOTREE:NSGCT|GARD:0010165|NCIT:C121619 owl:Class ECTO:0000135 biolink:NamedThing exposure to organic compound An exposure to organic molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to organic molecular entity owl:Class MONDO:0003767 biolink:NamedThing mitral valve disorder A disease involving the mitral valve. tmpte7i6ely_mondo_relaxed.owl disease of mitral valve|rheumatic disease of mitral valve|disorder of mitral valve|mitral valve disorder|rheumatic mitral valve incompetence|rheumatic mitral valve regurgitation|rheumatic mitral insufficiency|mitral valve disease or disorder|mitral valve disease|chronic rheumatic mitral valve|mitral RH valve dis.|rheumatic mitral valve changes|disease or disorder of mitral valve SCTID:83898004|UMLS:C0264765|ICD10:I05|UMLS:C0026265|ICD10:I05.9|ICD9:424.0|NCIT:C78446|ICD9:394|UMLS:C2939153|ICD9:394.9|ICD10:I05.1|SCTID:11851006|ICD9:394.1|DOID:61 owl:Class MONDO:0000770 biolink:NamedThing shellfish allergy Allergic reaction to shellfish or shellfish products. tmpte7i6ely_mondo_relaxed.owl MESH:D000067208|UMLS:C0577625|SCTID:300913006|DOID:0060495 owl:Class MONDO:0004975 biolink:NamedThing Alzheimer disease A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. tmpte7i6ely_mondo_relaxed.owl Alzheimer's disease|Alzheimers disease|Alzheimers dementia|presenile and senile dementia|Alzheimer dementia|Alzheimer's dementia|AD|Alzheimer disease, familial|Alzheimer disease SCTID:142811000119104|KEGG:05010|DOID:10652|ICD10:G30|ICD9:290.1|Orphanet:238616|OMIM:604154|ICD9:331.0|MESH:D000544|EFO:0000249|NCIT:C38778|OMIM:502500|HP:0002511|OMIM:605526|UMLS:C0002395|OMIM:104300|NIFSTD:birnlex_2092|NCIT:C2866|GARD:0000632|ICD10:G30.9|OMIM:615711|OMIM:615590 https://github.com/monarch-initiative/mondo/issues/4013 owl:Class UBERON:0003409 biolink:NamedThing gland of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010047 biolink:NamedThing oral gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045995 biolink:NamedThing regulation of embryonic development Any process that modulates the frequency, rate or extent of embryonic development. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1131492 biolink:NamedThing Aspergillaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5042 biolink:NamedThing Eurotiales tmpte7i6ely_mondo_relaxed.owl Elaphomycetales|green and blue molds GC_ID:1 NCBITaxon:36045 ncbi_taxonomy owl:Class MONDO:0010200 biolink:NamedThing Wilson disease Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. tmpte7i6ely_mondo_relaxed.owl hepatolenticular Degeneration|hepatolenticular degeneration|Wilson's disease|Westphal pseudosclerosis|Wnd|cerebral pseudosclerosis|WD|Westphal-Strumpell syndrome|Wilson disease UMLS:C0019202|SCTID:88518009|MedDRA:10019819|OMIM:277900|NCIT:C84756|Orphanet:905|ICD10:E83.01|GARD:0007893|ICD10:E83.0|DOID:893|MESH:D006527 https://rarediseases.info.nih.gov/diseases/7893/wilson-disease owl:Class MONDO:0006945 biolink:NamedThing renal artery obstruction Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). tmpte7i6ely_mondo_relaxed.owl ICD10:N28.0|EFO:1001150|UMLS:C0035066|MESH:D012078|DOID:2972 owl:Class PATO:0000136 biolink:NamedThing closure A morphological quality pertaining to the degree to which an object contains an opening, aperture, orifice or vent. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017412 biolink:NamedThing 2q31.1 microduplication syndrome tmpte7i6ely_mondo_relaxed.owl trisomy 2q31.1|dup(2)(q31.1) 2022-04-01 ICD10:Q92.3|Orphanet:294026|UMLS:CN203162 Reason: duplicate. This will be merged with MONDO:0013363 chromosome 2q31.1 duplication syndrome owl:Class MONDO:0016953 biolink:NamedThing partial duplication of the long arm of chromosome 2 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl Duplication 2q|partial duplication of chromosome 2q|partial duplication of the long arm of chromosome type 2|partial trisomy of chromosome 2q|trisomy 2q|2q duplication|chromosome 2q duplication|partial trisomy of the long arm of chromosome 2|partial trisomy 2q|2q trisomy MESH:C535367|Orphanet:262842|UMLS:C0795805|GARD:0005340 owl:Class MONDO:0002759 biolink:NamedThing bladder verrucous carcinoma A verrucous carcinoma that involves the urinary bladder. tmpte7i6ely_mondo_relaxed.owl bladder verrucous squamous cell carcinoma|bladder verrucous carcinoma|urinary bladder verrucous carcinoma DOID:3741|UMLS:C1511208|NCIT:C39832 owl:Class MONDO:0023011 biolink:NamedThing Wilson-Mikity syndrome tmpte7i6ely_mondo_relaxed.owl pulmonary dysmaturity|Pulmonary dysmaturity syndrome|Wilson-Mikity syndrome|Pulmonary dysmaturity|wilson-mikity syndrome SCTID:51577008|GARD:0010495|UMLS:C0270171 owl:Class GO:0010559 biolink:NamedThing regulation of glycoprotein biosynthetic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010908 biolink:NamedThing loose anagen syndrome Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. tmpte7i6ely_mondo_relaxed.owl loose anagen hair syndrome MESH:D058247|Orphanet:168|OMIM:600628|SCTID:238735005|UMLS:C0406468|DOID:0111702|ICD9:704.8|ICD10:L65.1|GARD:0003287 owl:Class MONDO:0022587 biolink:NamedThing bone dysplasia corpus callosum agenesis tmpte7i6ely_mondo_relaxed.owl GARD:0000921 https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis owl:Class MONDO:0012952 biolink:NamedThing colorectal cancer, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 16Q|colorectal cancer, susceptibility to, 9|CRCS9 OMIM:612590 owl:Class MONDO:0022897 biolink:NamedThing craniosynostosis exostoses nevus epibulbar dermoid tmpte7i6ely_mondo_relaxed.owl GARD:0001593 https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid owl:Class GO:0045921 biolink:NamedThing positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis. tmpte7i6ely_mondo_relaxed.owl upregulation of exocytosis|activation of exocytosis|stimulation of exocytosis|up-regulation of exocytosis|up regulation of exocytosis owl:Class MONDO:0043537 biolink:NamedThing cluster headache syndrome A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. tmpte7i6ely_mondo_relaxed.owl Horton syndrome|histamine headache|neuralgia, ciliary|episodic cluster headaches|atypical cluster headaches|Horton's neuralgia|headache, chronic cluster|cluster headache syndrome|Cephalgia, histamine|headache, cluster|erythroprosopalgia of bing|headache, episodic cluster|syndrome, Horton|episodic cluster headache|neuralgic migraine|syndrome, Horton's|beuralgias, ciliary|headache syndrome, cluster|Hortons syndrome|cluster headaches, chronic|headaches, cluster|erythromelalgia of the head|headache, atypical cluster|red migraine|headaches, episodic cluster|atypical cluster headache|Horton headache|cluster headache syndromes|cluster headaches|ciliary neuralgias|migraine, neuralgic|neuralgic migraines|vasomotor headache|cluster headaches, atypical|histamine cephalgia|cluster headache|chronic cluster headaches|Cephalgias, histamine|cluster headaches, episodic|ciliary neuralgia|migrainous neuralgia|syndrome, cluster headache|chronic cluster headache|headaches, atypical cluster|migraines, neuralgic|headaches, chronic cluster|cluster migraine|headache syndromes, cluster|syndromes, cluster headache|Horton's syndrome|cluster headache, chronic|histamine cephalgias|Horton's headache|cluster headache, episodic|cluster headache, atypical Orphanet:1002|EFO:0008571|MESH:D003027|NCIT:C117077|SCTID:193031009 owl:Class UBERON:0002786 biolink:NamedThing root of abducens nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006843 biolink:NamedThing root of cranial nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020411 biolink:NamedThing aorto-left ventricular tunnel tmpte7i6ely_mondo_relaxed.owl Orphanet:99071|ICD10:Q20.8 owl:Class MONDO:0018082 biolink:NamedThing aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. tmpte7i6ely_mondo_relaxed.owl aorto-ventricular tunnel|aorto-ventricular tunnel (disease) aorto-ventricular tunnel (disease) ICD10:Q20.8|HP:0011627|Orphanet:3400|UMLS:CN225932 owl:Class CL:0000065 biolink:NamedThing ependymal cell A neurectoderm derived cell that lines the neural lumen. tmpte7i6ely_mondo_relaxed.owl ependymocyte FMA:70550|BTO:0001724 cell owl:Class GO:0006855 biolink:NamedThing drug transmembrane transport The process in which a drug is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl drug membrane transport|multidrug transport owl:Class MONDO:0012342 biolink:NamedThing 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. tmpte7i6ely_mondo_relaxed.owl Wbs triplication syndrome|Somerville-Van Der Aa syndrome|chromosome 7Q11.23 Duplication syndrome|trisomy 7q11.23|chromosome 7Q11.23 triplication syndrome|Williams-Beuren region DUPLICATION syndrome|7q11.23 duplication syndrome|dup(7)(q11.23)|Wbs Duplication syndrome SCTID:726707004|UMLS:C1857844|UMLS:C4512054|ICD10:Q92.3|Orphanet:96121|MESH:C565723|GARD:0012076|OMIM:609757 owl:Class MONDO:0001957 biolink:NamedThing critical illness polyneuropathy tmpte7i6ely_mondo_relaxed.owl ICD9:357.82|SCTID:230594005|ICD10:G62.81|UMLS:C0393851|DOID:14402 owl:Class MONDO:0010576 biolink:NamedThing X-linked mixed hearing loss with perilymphatic gusher X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. tmpte7i6ely_mondo_relaxed.owl conductive deafness with stapes fixation|deafness, X-linked type 2|DFNX2|X-linked mixed deafness with perilymphatic gusher|deafness 3 conductive with stapes fixation|deafness mixed with perilymphatic gusher|central hearing loss|DFN3|X-linked mixed conductive and neurosensory deafness|gusher syndrome|X-linked mixed conductive and sensorineural hearing loss|deafness, conductive, with stapes fixation|DFN 3 nonsyndromic hearing loss and deafness|sensorineural hearing loss|high frequency deafness|deafness conductive with stapes fixation|perilymphatic gusher-deafness syndrome|deafness mixed with perilymphatic gusher, X-linked|X-linked mixed conductive and neurosensory hearing loss|high frequency hearing loss|sensorineural deafness|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|X-linked deafness type 2|deafness 3, conductive, with stapes fixation|perceptive hearing loss|X-linked mixed conductive and sensorineural deafness|Nance deafness|high-frequency hearing loss|perceptive hearing loss or deafness|X-linked stapes gusher syndrome|perceptive deafness|deafness, mixed, with perilymphatic gusher|sensory hearing loss|deafness, X-linked 2 MedDRA:10040016|EFO:1001176|ICD10:H90.8|ICD9:389.14|ICD9:389.1|MESH:D006319|UMLS:C1844678|GARD:0004504|DOID:10003|GARD:0001694|ICD10:H91.9|ICD9:389.10|ICD10:H90.5|Orphanet:383|OMIM:304400 owl:Class MONDO:0001151 biolink:NamedThing benign essential hypertension A condition of mild to moderate high blood pressure that has no identifiable cause. tmpte7i6ely_mondo_relaxed.owl benign essential hypertension DOID:10913|UMLS:C0155583|SCTID:1201005|NCIT:C3656|ICD9:401.1 owl:Class MONDO:0001134 biolink:NamedThing essential hypertension Hypertension that presents without an identifiable cause. tmpte7i6ely_mondo_relaxed.owl idiopathic hypertension|primary hypertension OMIM:610261|OMIM:607329|OMIM:610262|ICD10:I10|DOID:10825|EFO:1002032|OMIM:603918|UMLS:C0085580|OMIM:145500|SCTID:59621000|Orphanet:243761|NCIT:C3478|OMIM:610948|MESH:C562386|OMIM:611014|ICD9:401|ICD9:401.9|OMIM:608742|OMIM:604329 owl:Class MONDO:0009697 biolink:NamedThing Lafora disease Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. tmpte7i6ely_mondo_relaxed.owl Epm2|epilepsy, progressive myoclonic, 2A|Lafora progressive myoclonic epilepsy|epilepsy progressive myoclonic 2|EPM2|Lafora's disease|Melf|progressive myoclonus epilepsy type 2|Lafora disease|myoclonic epilepsy of Lafora|Lafora body disease|progressive myoclonic epilepsy type 2|Lafora body disorder|PME type 2|epilepsy, progressive myoclonic, 2B DOID:3534|MedDRA:10054030|UMLS:C0751783|OMIM:254780|SCTID:230425004|MESH:D020192|NCIT:C84804|GARD:0008214|Orphanet:501|ICD10:G40.3 https://rarediseases.info.nih.gov/diseases/8214/lafora-disease owl:Class MONDO:0060564 biolink:NamedThing HELIX syndrome tmpte7i6ely_mondo_relaxed.owl HELIX|hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome|HELIX syndrome|hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia UMLS:C4522164|OMIM:617671|Orphanet:528105 owl:Class CHEBI:36699 biolink:NamedThing corticosteroid hormone Any of a class of steroid hormones that are produced in the adrenal cortex. tmpte7i6ely_mondo_relaxed.owl corticosteroid hormones|adrenal cortex hormones owl:Class CHEBI:50858 biolink:NamedThing corticosteroid A natural or synthetic analogue of the hormones secreted by the adrenal gland. tmpte7i6ely_mondo_relaxed.owl corticoides|corticosteroids|corticosteroides owl:Class MONDO:0031169 biolink:NamedThing odontochondrodysplasia tmpte7i6ely_mondo_relaxed.owl OMIMPS:184260|OMIM:184260 owl:Class HGNC:14966 biolink:NamedThing PXDN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006534 biolink:NamedThing renal convoluted tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005969 biolink:NamedThing st. Louis encephalitis A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) tmpte7i6ely_mondo_relaxed.owl St. Louis encephalitis virus infectious encephalitis|Neuroinvasive St. Louis encephalitis virus infection|St. Louis encephalitis virus caused infectious encephalitis|Saint Louis encephalitis EFO:0007495|UMLS:C0014060|SCTID:417607009|Orphanet:83484|MESH:D004674|DOID:10845|MedDRA:10041896|ICD9:062.3|ICD10:A83.3 owl:Class GO:0010985 biolink:NamedThing negative regulation of lipoprotein particle clearance Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005830 biolink:NamedThing lumpy skin disease A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. tmpte7i6ely_mondo_relaxed.owl MESH:D008166|UMLS:C0024106|EFO:0007349 owl:Class MONDO:0012312 biolink:NamedThing short QT syndrome type 1 Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene. tmpte7i6ely_mondo_relaxed.owl SQT1|short QT syndrome type 1|short QT syndrome 1|KCNH2 short QT syndrome|SQTS|short QT syndrome caused by mutation in KCNH2 OMIM:609620|MESH:C566506|UMLS:C1865020 owl:Class MONDO:0010443 biolink:NamedThing macular degeneration, X-linked atrophic tmpte7i6ely_mondo_relaxed.owl macular degeneration, X-linked atrophic UMLS:C3151784|OMIM:300834 owl:Class MONDO:0100437 biolink:NamedThing RPGR-related retinopathy A retinopathy caused by a variant in the X-linked gene, RPGR. tmpte7i6ely_mondo_relaxed.owl cone dystrophy 1, X-linked|RPGR retinitis pigmentosa|retinitis pigmentosa caused by mutation in RPGR|retinitis pigmentosa 3|macular degeneration, X-linked atrophic|X-linked cone dystrophy 1|COD1|retinitis pigmentosa type 3|retinal ciliopathy due to mutation in the RPGR gene|cone dystrophy X-linked 1|RPGR retinopathy|RP3|cone-rod degeneration, X-linked|cone-rod dystrophy X-linked 1|CORDX1|X-linked cone-rod dystrophy type 1|X-linked cone-rod dystrophy 1|choroidoretinal degeneration with retinal reflex in heterozygous women|retinitis pigmentosa 15|cone-rod dystrophy, X-linked, 1|cone-rod dystrophy, X-linked, type 1 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class UBERON:0001862 biolink:NamedThing vestibular labyrinth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032728 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, type 2EE tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth Neuropathy, Type 2Ee|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE|CMT2EE DOID:0111559|OMIM:618400 owl:Class GO:0045844 biolink:NamedThing positive regulation of striated muscle tissue development Any process that activates or increases the frequency, rate or extent of striated muscle development. tmpte7i6ely_mondo_relaxed.owl activation of striated muscle development|up-regulation of striated muscle development|up regulation of striated muscle development|upregulation of striated muscle development|stimulation of striated muscle development owl:Class MONDO:0003654 biolink:NamedThing childhood parosteal osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. tmpte7i6ely_mondo_relaxed.owl childhood parosteal osteogenic sarcoma|childhood parosteal osteosarcoma NCIT:C6589|DOID:5809|UMLS:C1332994 owl:Class MONDO:0002623 biolink:NamedThing pediatric osteosarcoma An osteosarcoma occurring in childhood. tmpte7i6ely_mondo_relaxed.owl osteosarcoma|childhood osteosarcoma (disease)|childhood osteosarcoma|childhood osteogenic sarcoma|pediatric osteosarcoma|osteosarcoma (disease) of childhood|pediatric osteosarcoma (disease) UMLS:C1332986|NCIT:C6585|DOID:3361 owl:Class MONDO:0007048 biolink:NamedThing acrokeratosis verruciformis A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. tmpte7i6ely_mondo_relaxed.owl acrokeratosis verruciformis|acrokeratosis verruciformis of Hopf|AKV of Hopf|Hopf disease|AKV EFO:1000666|Orphanet:79151|NCIT:C27519|DOID:0050606|SCTID:400085009|ICD9:757.39|OMIM:101900|UMLS:C0265971|ICD10:Q82.8|MedDRA:10069445 owl:Class ECTO:9001702 biolink:NamedThing exposure to macronutrient An exposure to macronutrient. tmpte7i6ely_mondo_relaxed.owl exposure to macronutrient owl:Class ECTO:9001695 biolink:NamedThing exposure to nutrient An exposure to nutrient. tmpte7i6ely_mondo_relaxed.owl exposure to nutrient owl:Class UBERON:0009655 biolink:NamedThing auricular artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016182 biolink:NamedThing qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of protein POMGNT1 Orphanet:209024 owl:Class MONDO:0016155 biolink:NamedThing qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan tmpte7i6ely_mondo_relaxed.owl secondary alpha-dystroglycanopathy|secondary dystroglycanopathy Orphanet:207113 owl:Class MONDO:0019008 biolink:NamedThing benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC). tmpte7i6ely_mondo_relaxed.owl Bric|Summerskill-Walshe-Tygstrup syndrome|cholestasis, benign recurrent intrahepatic SCTID:31155007|OMIM:605479|DOID:0070230|Orphanet:65682|ICD10:K83.1|UMLS:C0149841|OMIM:243300|OMIMPS:243300|GARD:0012185 https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis owl:Class MONDO:0003455 biolink:NamedThing bile duct papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl bile duct papillary neoplasm|biliary papillomatosis|bile duct papillary epithelial neoplasm|IPN|intraductal papillary neoplasm|bile duct papillomatosis NCIT:C6881|DOID:5468|UMLS:C1879344|ICDO:8503/0 owl:Class MONDO:0002060 biolink:NamedThing intraductal papilloma An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. tmpte7i6ely_mondo_relaxed.owl intraductal papilloma (morphologic abnormality)|ductal papilloma|intraductal papilloma|duct adenoma|duct papilloma UMLS:C0206713|DOID:1627|ICDO:8503/0|NCIT:C3785|MESH:D018300 owl:Class MONDO:0009610 biolink:NamedThing 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. tmpte7i6ely_mondo_relaxed.owl 3 alpha methylglutaconic aciduria type I|MGCA1|3-methylglutaconyl-Coa hydratase deficiency|3-methylglutaconic aciduria caused by mutation in auh|3-MGCA type I (3-MGCA-1)|3 methylglutaconic aciduria type 1|3MG CoA hydratase deficiency|3 methylglutaconyl CoA hydratase deficiency|Mga, type 1|MGA type I|3-METHYLGLUTACONIC aciduria, type I|3MG-CoA hydratase deficiency|3-methylglutaconyl-CoA hydratase deficiency (auh defect)|3-methylglutaconyl-CoA hydratase deficiency|3-Methylglutaconic aciduria, type 1|MGA1|3-methylglutaconic aciduria type 1|auh 3-methylglutaconic aciduria|AUH 3-methylglutaconic aciduria|3-methylglutaconic aciduria caused by mutation in AUH|3-methylglutaconic aciduria type I|3-Mg-Coa-hydratase deficiency NCIT:C98683|GARD:0010321|ICD10:E71.1|MESH:C562801|DOID:0110002|Orphanet:67046|SCTID:237951008|UMLS:C0342728|UMLS:C0342727|OMIM:250950 owl:Class GO:0048583 biolink:NamedThing regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015369 biolink:NamedThing Joubert syndrome and related disorders Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome and related disorders|JSRD UMLS:CN199461|Orphanet:140874 owl:Class CL:0002621 biolink:NamedThing gingival epithelial cell tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-14T12:46:28Z cell owl:Class MONDO:0017558 biolink:NamedThing congenital elbow dislocation, unilateral tmpte7i6ely_mondo_relaxed.owl ICD10:Q68.8|Orphanet:295225 owl:Class MONDO:0017469 biolink:NamedThing congenital elbow dislocation tmpte7i6ely_mondo_relaxed.owl congenital radial head dislocation|isolated congenital radial head dislocation|isolated congenital elbow dislocation Orphanet:295032|ICD10:Q68.8 owl:Class MONDO:0030507 biolink:NamedThing spermatogenic failure 61 tmpte7i6ely_mondo_relaxed.owl SPGF61 OMIM:619672 owl:Class GO:0016462 biolink:NamedThing pyrophosphatase activity Catalysis of the hydrolysis of a pyrophosphate bond between two phosphate groups, leaving one phosphate on each of the two fragments. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001175 biolink:NamedThing immature cataract A cataract disease in which the cataract contains some transparent protein tmpte7i6ely_mondo_relaxed.owl incipient senile cataract|incipient cataract|water clefts UMLS:C2939157|DOID:10997|UMLS:C2960113|SCTID:446474007|UMLS:C0271163|ICD10:H25.09 owl:Class MONDO:0015564 biolink:NamedThing Castleman disease Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms. tmpte7i6ely_mondo_relaxed.owl angiofollicular lymph node hyperplasia|AFLH|GLNH|Castleman disease|angiofollicular lymph hyperplasia|Castleman's tumor|lymphoid hamartoma|angiofollicular ganglionic hyperplasia|Castleman's disease|ALNH|angiofollicular lymphoid hyperplasia|giant lymph node hyperplasia Orphanet:160|MedDRA:10050251|NCIT:C3056|UMLS:CN199886|GARD:0012656|EFO:1001332|SCTID:207036003|GARD:0000673|UMLS:C0017531|ICD10:D47.Z2|DOID:0111157|UMLS:C2931179|ICD10:D47.4|OMIM:148000 owl:Class MONDO:0017990 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. tmpte7i6ely_mondo_relaxed.owl familial polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic|polymorphic catecholergic ventricular tachycardia|syncopal paroxysmal tachycardia|catecholaminergic polymorphic ventricular tachycardia|bidirectional tachycardia induced by catecholamine|stress-induced polymorphic ventricular tachycardia|double tachycardia induced by catecholamines|CPVT|catecholamine-induced polymorphic ventricular tachycardia|malignant paroxysmal ventricular tachycardia|multifocal ventricular premature beats OMIMPS:604772|OMIM:611938|OMIM:615441|SCTID:419671004|OMIM:614916|OMIM:604772|UMLS:C1631597|GARD:0004421|MESH:C536334|DOID:0060674|OMIM:614021|Orphanet:3286|ICD10:I47.2 owl:Class MONDO:0020575 biolink:NamedThing polymorphic ventricular tachycardia A ventricular tachycardia that is irregular in rate and rhythm. tmpte7i6ely_mondo_relaxed.owl ventricular tachycardia, polymorphic|polymorphic ventricular tachycardia NCIT:C111648|HP:0031677|UMLS:C0344432|SCTID:251159007 owl:Class MONDO:0045051 biolink:NamedThing cortical cataract A cataract (disease) that involves the lens cortex. tmpte7i6ely_mondo_relaxed.owl cataract (disease) of lens cortex|lens cortex cataract (disease) ICD9:366.03|SCTID:193576003 owl:Class HP:0002383 biolink:NamedThing Encephalitis tmpte7i6ely_mondo_relaxed.owl Brain inflammation MSH:D004660|UMLS:C0014038|SNOMEDCT_US:45170000 human_phenotype owl:Class HP:0011450 biolink:NamedThing Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. tmpte7i6ely_mondo_relaxed.owl Central nervous system infection SNOMEDCT_US:128117002|UMLS:C0007684|MSH:D002494 peter 2012-03-18T05:57:29Z human_phenotype owl:Class MONDO:0002014 biolink:NamedThing autosomal recessive Ehlers-Danlos syndrome, vascular type The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, recessive type 4|autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, vascular type, autosomal recessive DOID:14759|UMLS:C0268340|SCTID:70610001 owl:Class MONDO:0017314 biolink:NamedThing Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. tmpte7i6ely_mondo_relaxed.owl sack-Barabas syndrome|vEDS|Ehlers-Danlos syndrome type IV (formerly)|EDS4 (formerly)|vascular Ehlers-Danlos syndrome|Ehlers-Danlos syndrome type IV|Ehlers Danlos syndrome, ecchymotic type|Ehlers Danlos syndrome, sack-Barabas type|Ehlers Danlos syndrome, arterial type|EDS IV|vascular EDS|EDS IV (formerly)|Ehlers-Danlos syndrome type 4|EDS type 4|EDS type 4 (formerly)|Ehlers-Danlos syndrome type 4 (formerly)|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, type IV ICD10:Q79.6|SCTID:17025000|Orphanet:286|NCIT:C125699|OMIM:130050|GARD:0002082 owl:Class MONDO:0019422 biolink:NamedThing X-linked intellectual disability, Stevenson type An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl UMLS:CN206178|Orphanet:85325|ICD10:Q87.8|SCTID:718909001 owl:Class NCBITaxon:85819 biolink:NamedThing Phthiraptera tmpte7i6ely_mondo_relaxed.owl lice GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020376 biolink:NamedThing early-onset nuclear cataract tmpte7i6ely_mondo_relaxed.owl OMIM:607304|OMIM:609376|OMIM:116400|MESH:C563333|ICD10:Q12.0|MedDRA:10057735|OMIM:611391|OMIM:610019|UMLS:CN207247|MedDRA:10007759|Orphanet:98991 owl:Class HGNC:10807 biolink:NamedThing SGCD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014028 biolink:NamedThing distal arthrogryposis type 5D Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. tmpte7i6ely_mondo_relaxed.owl DA5D|ECEL1 distal arthrogryposis|distal arthrogryposis caused by mutation in ECEL1|distal arthrogryposis type 5 without ophthalmoplegia|arthrogryposis, distal, type 5D|distal arthrogryposis type 5 without ophthalmoparesis OMIM:615065|UMLS:C3554415|GARD:0013059|ICD10:Q68.8|Orphanet:329457|DOID:0111594 https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d owl:Class MONDO:0019942 biolink:NamedThing distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. tmpte7i6ely_mondo_relaxed.owl arthrogryposis multiplex congenita distal|freeman-Sheldon syndrome|freeman-Sheldon syndrome variant Orphanet:1147|GARD:0000786|OMIMPS:108120|Orphanet:97120|SCTID:24269006|ICD10:Q68.8|DOID:0050646 https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis owl:Class MONDO:0016751 biolink:NamedThing malignant perineurioma A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. tmpte7i6ely_mondo_relaxed.owl perineurial malignant peripheral nerve sheath tumor|malignant peripheral nerve sheath tumor with perineurial differentiation|perineurioma, malignant Orphanet:252128|NCIT:C66845|ICDO:9571/3|UMLS:C1266188|SCTID:761958009 owl:Class MONDO:0014460 biolink:NamedThing nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. tmpte7i6ely_mondo_relaxed.owl ECTDS|ectodermal dysplasia-short stature syndrome|ectodermal dysplasia/short stature syndrome|short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Orphanet:423454|OMIM:616029|ICD10:Q82.8|UMLS:C4014987 owl:Class MONDO:0054723 biolink:NamedThing spermatogenic failure 19 tmpte7i6ely_mondo_relaxed.owl SPGF19|spermatogenic failure 19 OMIM:617592|DOID:0070170 owl:Class MONDO:0016164 biolink:NamedThing herpetiform pemphigus Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. tmpte7i6ely_mondo_relaxed.owl ICD10:L10.2|Orphanet:208524|UMLS:CN226858 owl:Class MONDO:0018745 biolink:NamedThing superficial pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants. tmpte7i6ely_mondo_relaxed.owl ICD10:L10.4|UMLS:CN227541|ICD10:L10.2|Orphanet:46485|ICD10:L10.3 owl:Class MONDO:0005201 biolink:NamedThing restrictive cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. tmpte7i6ely_mondo_relaxed.owl familial restrictive cardiomyopathy|primary restrictive cardiomyopathy|restrictive cardiomyopathy|cardiomyopathy, constrictive UMLS:C0007196|OMIM:115210|MedDRA:10038748|OMIM:612422|Orphanet:217632|NCIT:C62798|ICD10:I42.5|SCTID:415295002|OMIM:609578|EFO:0002630|OMIM:615248|MESH:D002313|Orphanet:75249|DOID:397|ICD9:425.4 owl:Class NCBITaxon:75739 biolink:NamedThing Eucoccidiorida tmpte7i6ely_mondo_relaxed.owl Eucoccidiida GC_ID:1 ncbi_taxonomy owl:Class GO:0043462 biolink:NamedThing regulation of ATPase activity Any process that modulates the rate of ATP hydrolysis by an ATPase. tmpte7i6ely_mondo_relaxed.owl regulation of adenosinetriphosphatase activity owl:Class GO:0051336 biolink:NamedThing regulation of hydrolase activity Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpte7i6ely_mondo_relaxed.owl hydrolase regulator owl:Class GO:0045861 biolink:NamedThing negative regulation of proteolysis Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpte7i6ely_mondo_relaxed.owl negative regulation of peptidolysis|down-regulation of proteolysis|downregulation of proteolysis|down regulation of proteolysis|inhibition of proteolysis owl:Class GO:0030162 biolink:NamedThing regulation of proteolysis Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpte7i6ely_mondo_relaxed.owl regulation of peptidolysis owl:Class MONDO:0017853 biolink:NamedThing hypersensitivity pneumonitis Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. tmpte7i6ely_mondo_relaxed.owl hypersensitivity pneumonitis|allergic pneumonitis|allergic interstitial pneumonitis|extrinsic allergic alveolitis|extrinsic allergic pneumonia hypersensitivity pneumonitis|HP|alveolitis, extrinsic allergic|exogen allergic alveolitis ICD10:J67.0|ICD9:495.9|ICD10:J67.7|ICD10:J67.9|ICD10:J67.6|ICD10:J67.1|Orphanet:31740|ICD10:J67.8|SCTID:37471005|ICD10:J67.4|ICD10:J67.3|ICD10:J67.2|ICD9:495.8|MedDRA:10001890|ICD10:J67.5|GARD:0000012 owl:Class MONDO:0005778 biolink:NamedThing haemonchiasis Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. tmpte7i6ely_mondo_relaxed.owl UMLS:C0018477|EFO:0007293|MESH:D006188|DOID:3332 owl:Class MONDO:0003021 biolink:NamedThing central nervous system angiosarcoma A malignant vascular neoplasm arising from the brain, spinal cord or meninges. tmpte7i6ely_mondo_relaxed.owl hemangiosarcoma of the CNS|hemangiosarcoma of central nervous system|central nervous system hemangiosarcoma|hemangiosarcoma of CNS|angiosarcoma of central nervous system|angiosarcoma of the central nervous system|CNS hemangiosarcoma|CNS angiosarcoma|angiosarcoma of CNS|hemangiosarcoma of the central nervous system|central nervous system angiosarcoma (disease)|angiosarcoma (disease) of central nervous system|angiosarcoma of the CNS|central nervous system angiosarcoma NCIT:C5450|UMLS:C1332875|DOID:4504 owl:Class MONDO:0018244 biolink:NamedThing obesity due to SIM1 deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:E66.8|Orphanet:369873 owl:Class MONDO:0010354 biolink:NamedThing Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. tmpte7i6ely_mondo_relaxed.owl triiodothyronine resistance|ALLAN-Herndon-DUDLEY syndrome|triiodothyronine resistence|intellectual disability and muscular atrophy|Allan-Herndon-Dudley syndrome|mental retardation and muscular atrophy|intellectual disability, X-linked, with hypotonia|monocarboxylate transporter-8 deficiency|MCT8-specific thyroid hormone cell Membrane transporter deficiency|MCT8 deficiency|ALLAN-Herndon syndrome|T3 resistance|X-linked intellectual disability-hypotonia syndrome|Allan-Herndon syndrome|T3 resisitence|monocarboxylate transporter 8 deficiency|mental retardation, X-linked, with hypotonia|AHDS|X-linked intellectual disability with hypotonia UMLS:C0795889|OMIM:300523|Orphanet:280270|SCTID:702327009|GARD:0005617|MESH:C537047|Orphanet:59|NCIT:C118843|ICD10:E03.1|DOID:0050631|ICD10:G31.8 https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome owl:Class MONDO:0017226 biolink:NamedThing Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD). tmpte7i6ely_mondo_relaxed.owl PMLD OMIM:300523|OMIM:608804|OMIM:260600|OMIM:612233|GARD:0012300|SCTID:717042001|ICD10:E75.2|Orphanet:280270 https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease owl:Class IAO:8000018 biolink:NamedThing obo basic subset ontology module A subset ontology that is designed for basic applications to continue to make certain simplifying assumptions; many of these simplifying assumptions were based on the initial version of the Gene Ontology, and have become enshrined in many popular and useful tools such as term enrichment tools. Examples of such assumptions include: traversing the ontology graph ignoring relationship types using a naive algorithm will not lead to cycles (i.e. the ontology is a DAG); every referenced term is declared in the ontology (i.e. there are no dangling clauses). An ontology is OBO Basic if and only if it has the following characteristics: DAG Unidirectional No Dangling Clauses Fully Asserted Fully Labeled No equivalence axioms Singly labeled edges No qualifier lists No disjointness axioms No owl-axioms header No imports tmpte7i6ely_mondo_relaxed.owl obo basic subset ontology module owl:Class IAO:8000017 biolink:NamedThing ontology module subsetted by expressivity tmpte7i6ely_mondo_relaxed.owl ontology module subsetted by expressivity owl:Class MONDO:0007391 biolink:NamedThing coxa vara Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. tmpte7i6ely_mondo_relaxed.owl coxa vara (disease)|coxa vara|coxa vara, congenital coxa vara (disease) OMIM:122750|MESH:D060905|EFO:1001298|GARD:0008750|HP:0002812 owl:Class MONDO:0014489 biolink:NamedThing limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12|MDDGC12|muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|LGMD due to POMK deficiency OMIM:616094|Orphanet:445110|UMLS:C4015184|ICD10:G71.0 owl:Class MONDO:0001975 biolink:NamedThing cavernous hemangioma of orbit A cavernous hemangioma arising from the orbit. tmpte7i6ely_mondo_relaxed.owl orbit cavernous hemangioma|orbit cavernous angioma|cavernous hemangioma of the orbit|cavernous angioma of the orbit|cavernous angioma of orbit NCIT:C4546|DOID:14463|ICD9:228.09|UMLS:C0346352|SCTID:254998002 owl:Class MONDO:0018853 biolink:NamedThing transgrediens et progrediens palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl keratosis palmoplantaris transgrediens et progrediens|progressive diffuse PPK|Greither disease|progressive diffuse palmoplantar keratoderma|transgrediens et progrediens PPK|keratosis extremitatum hereditaria progrediens Orphanet:495|ICD10:Q82.8|UMLS:CN205162|OMIM:133200 owl:Class MONDO:0009083 biolink:NamedThing conductive deafness-malformed external ear syndrome tmpte7i6ely_mondo_relaxed.owl conductive hearing loss and malformed low-set ears|conductive hearing loss-malformed external ear syndrome|conductive deafness - malformed external ear|Ear deformity and conductive hearing loss|deafness, conductive, with malformed external EAR|Mengel-Konigsmark syndrome|conductive deafness with malformed external ear|familial congenital moderate neural hearing loss MESH:C565644|OMIM:221300|GARD:0001460|UMLS:C1857341|Orphanet:3216 owl:Class MONDO:0100416 biolink:NamedThing acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.) tmpte7i6ely_mondo_relaxed.owl AML, FLT3/TKD Point Mutation|AML, FLT3-TKD Point Mutation|AML, FLT3 tyrosine kinase domain point mutation NCIT:C67495 owl:Class MONDO:0018781 biolink:NamedThing KID syndrome Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. tmpte7i6ely_mondo_relaxed.owl keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|Senter syndrome|keratitis, ichthyosis, and deafness (KID) syndrome|KID/HID syndrome|ichthyosis hystrix Rheydt type MedDRA:10048786|Orphanet:477|OMIM:148210|OMIMPS:148210|GARD:0003113|ICD9:759.89|UMLS:CN205136|OMIM:242150|SCTID:2625009|OMIM:602540|UMLS:C0265336|ICD10:Q80.8 Editor note: Orphanet classifies as both AD and AR owl:Class UBERON:0003549 biolink:NamedThing brain pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044464 biolink:NamedThing obsolete cell part OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms. tmpte7i6ely_mondo_relaxed.owl cellular subcomponent|protoplast CL:0000000 True owl:Class MONDO:0010802 biolink:NamedThing pancreatic hypoplasia-diabetes-congenital heart disease syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). tmpte7i6ely_mondo_relaxed.owl pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|Yorifuji-Okuno syndrome|pancreatic hypoplasia-diabetes-congenital heart disease syndrome|Yorifuji Okuno syndrome|pancreatic agenesis and congenital heart defects|hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease|HDCA|congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease|heart defects, congenital, and other congenital anomalies DOID:0111733|GARD:0000347|MESH:C564011|ICD10:Q87.8|SCTID:722206009|OMIM:600001|Orphanet:2255 owl:Class NCBITaxon:469 biolink:NamedThing Acinetobacter tmpte7i6ely_mondo_relaxed.owl PMID:8934907|PMID:9226915|PMID:7520730|PMID:10028249|PMID:9336926|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0005672 biolink:NamedThing blastomycosis Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. tmpte7i6ely_mondo_relaxed.owl Blastomyces dermatitidis disease or disorder|North American blastomycosis|infection by Blastomyces dermatitidis|Blastomyces dermatitidis caused disease or disorder|Blastomyces dermatitidis infection|blastomycotic infection|Chicago disease|Blastomyces dermatitidis infectious disease|Gilchrist's disease NCIT:C34429|DOID:12663|UMLS:C0005716|ICD10:B40.9|GARD:0005931|ICD10:B40|ICD9:116|CSP:1988-4119|EFO:0007174|UMLS:C0005717|MESH:D001759|ICD9:116.0|SCTID:191950004 https://rarediseases.info.nih.gov/diseases/5931/blastomycosis owl:Class MONDO:0000308 biolink:NamedThing primary systemic mycosis A systemic mycosis that arises from infection in an immunologically normal host. tmpte7i6ely_mondo_relaxed.owl DOID:0050292 owl:Class MONDO:0019385 biolink:NamedThing steroid-responsive encephalopathy associated with autoimmune thyroiditis tmpte7i6ely_mondo_relaxed.owl Hashimoto's encephalopathy|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto's encephalitis|SREAT|Hashimoto encephalitis ICD10:G04.8|Orphanet:83601|GARD:0008570|MESH:C535841|UMLS:C0393639 Editor note: TODO DP for chebi roles owl:Class MONDO:0020640 biolink:NamedThing autoimmune encephalitis Inflammation of the brain secondary to an immune response triggered by the body itself. tmpte7i6ely_mondo_relaxed.owl autoimmune encephalitis SCTID:95643007|NCIT:C122414|GARD:0011979 owl:Class GO:0072507 biolink:NamedThing divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098771 biolink:NamedThing inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020749 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 tmpte7i6ely_mondo_relaxed.owl polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 owl:Class MONDO:0017067 biolink:NamedThing cervicothoracic spina bifida aperta tmpte7i6ely_mondo_relaxed.owl UMLS:CN202426|Orphanet:268397 owl:Class MONDO:0017062 biolink:NamedThing spina bifida aperta tmpte7i6ely_mondo_relaxed.owl ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.1|ICD10:Q05.2|UMLS:CN202421|ICD10:Q05.4|ICD10:Q05.5|ICD10:Q05.0|ICD10:Q05.3|ICD10:Q05.9|ICD10:Q05.8|SCTID:58557008|Orphanet:268369 owl:Class MONDO:0004771 biolink:NamedThing Fuchs' heterochromic uveitis A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. tmpte7i6ely_mondo_relaxed.owl Fuchs uveitis syndrome|Fuch's heterochromic iridocyclitis|Fuchs' heterochromic cyclitis 2022-05-01 SCTID:11226001|UMLS:C0016782|DOID:9375|ICD9:364.21|ICD10:H20.81 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0010079 biolink:NamedThing Canavan disease A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. tmpte7i6ely_mondo_relaxed.owl aspartoacylase deficiency|Acy2 deficiency|Canavan-VAN Bogaert-Bertrand disease|Canavan disease|spongy degeneration of the central nervous system|spongy degeneration of central nervous system|aminoacylase 2 deficiency|Von Bogaert-Bertrand disease|Asp deficiency|Aspa deficiency|spongy degeneration of the brain|spongy Degeneration of central nervous system|Canavan-Van Bogaert-Bertrand disease|ACY2 deficiency ICD10:E75.2|Orphanet:141|UMLS:C0206307|NCIT:C84611|MESH:D017825|SCTID:80544005|DOID:3613|GARD:0005984|OMIM:271900|MedDRA:10067608 https://rarediseases.info.nih.gov/diseases/5984/canavan-disease owl:Class CL:0011026 biolink:NamedThing progenitor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010885 biolink:NamedThing hindlimb cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100070 biolink:NamedThing neuroendocrine disorder A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. tmpte7i6ely_mondo_relaxed.owl neuroendocrine system disease 2018-12-17 22:24:52+00:00 owl:Class MONDO:0008714 biolink:NamedThing acrofacial dysostosis Rodriguez type Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. tmpte7i6ely_mondo_relaxed.owl acrofacial dysostosis, syndrome of Rodriguez|acrofacial dysostosis syndrome of Rodriguez|acrofacial dysostosis, Rodríguez type|Rodriguez lethal acrofacial dysostosis syndrome DOID:0060383|Orphanet:1788|GARD:0000496|OMIM:201170|MESH:C538183|SCTID:720430002|UMLS:C1860119|ICD10:Q75.4 https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type owl:Class GO:0042776 biolink:NamedThing mitochondrial ATP synthesis coupled proton transport The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. tmpte7i6ely_mondo_relaxed.owl mitochondrial proton transport owl:Class GO:1990542 biolink:NamedThing mitochondrial transmembrane transport The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010975 biolink:NamedThing Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. tmpte7i6ely_mondo_relaxed.owl Abnormal number of B cells|Abnormality of B cell numbers|Abnormality of B cell count|Abnormal numbers of B cells UMLS:C4021208 peter 2011-02-06T09:38:18Z human_phenotype owl:Class MONDO:0001178 biolink:NamedThing pseudopterygium tmpte7i6ely_mondo_relaxed.owl ICD9:372.52|SCTID:66139007|DOID:11028|UMLS:C0155161 owl:Class MONDO:0000949 biolink:NamedThing conjunctival degeneration tmpte7i6ely_mondo_relaxed.owl UMLS:C0155160|ICD9:372.50|SCTID:40787005|DOID:10139|ICD10:H11.10 owl:Class UBERON:0011769 biolink:NamedThing cartilaginous projection tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004529 biolink:NamedThing anatomical projection tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021670 biolink:NamedThing post-infectious syndrome tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021669 biolink:NamedThing post-infectious disorder A disorder that follows infection but is distinct from the infection itself and its usual manifestations. tmpte7i6ely_mondo_relaxed.owl sequela of infectious disorder SCTID:123976001|ICD9:139.8 owl:Class GO:0043392 biolink:NamedThing negative regulation of DNA binding Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpte7i6ely_mondo_relaxed.owl down-regulation of DNA binding|down regulation of DNA binding|downregulation of DNA binding|inhibition of DNA binding owl:Class MONDO:0010903 biolink:NamedThing craniosynostosis, Adelaide type tmpte7i6ely_mondo_relaxed.owl CRSA|craniosynostosis, Adelaide type OMIM:600593|UMLS:C1833578|MESH:C563471 owl:Class MONDO:0012100 biolink:NamedThing major depressive disorder 2 tmpte7i6ely_mondo_relaxed.owl MDD2|major depressive disorder 2|major depressive disorder type 2|unipolar depression 2 OMIM:608691|MESH:C563875|UMLS:C1837529 owl:Class GO:0002828 biolink:NamedThing regulation of type 2 immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. tmpte7i6ely_mondo_relaxed.owl regulation of T-helper 2 type immune response|regulation of Th2 immune response owl:Class UBERON:0010701 biolink:NamedThing phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000941 biolink:NamedThing eyelid degenerative disorder A neurodegenerative disease that involves the eyelid. tmpte7i6ely_mondo_relaxed.owl eyelid neurodegenerative disease|neurodegenerative disease of eyelid SCTID:1112003|UMLS:C0155209|DOID:10120|ICD9:374.50 owl:Class HGNC:1509 biolink:NamedThing CASP8 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002321 biolink:NamedThing embryonic cell (metazoa) A cell of the embryo. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0263|FMA:82841|FMA:82840|WBbt:0007028 tmeehan 2010-09-15T03:39:21Z cell owl:Class CL:0002134 biolink:NamedThing stromal cell of ovarian medulla A stromal cell of the ovarian medulla. tmpte7i6ely_mondo_relaxed.owl FMA:256171 tmeehan 2010-08-23T12:12:17Z cell owl:Class MONDO:0030334 biolink:NamedThing encephalitis, acute, infection (viral)-induced, susceptibility to, 11 tmpte7i6ely_mondo_relaxed.owl encephalitis, acute, infection (viral)-induced, susceptibility to, 11|IIAE11 OMIM:619441 owl:Class MONDO:0018167 biolink:NamedThing primary essential cutis verticis gyrata Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes. tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.8|SCTID:765135003|Orphanet:357220|UMLS:CN204615 owl:Class MONDO:0019033 biolink:NamedThing primary cutis verticis gyrata Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG). tmpte7i6ely_mondo_relaxed.owl cutis verticis gyrata GARD:0001643|ICD9:757.39|ICD10:Q82.8|UMLS:C0263417|SCTID:51603000|Orphanet:671 https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata owl:Class NCBITaxon:2682482 biolink:NamedThing Mastigamoebida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:555406 biolink:NamedThing Archamoebae tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:23020233 ncbi_taxonomy owl:Class UBERON:0015410 biolink:NamedThing heart plus pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021067 biolink:NamedThing mediastinal germ cell tumor A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. tmpte7i6ely_mondo_relaxed.owl germ cell neoplasm of the mediastinum|germ cell tumor of mediastinum|thymic germ cell tumor|mediastinal germ cell tumor|mediastinal germ cell neoplasm|germ cell neoplasm of mediastinum|germ cell tumor of the mediastinum|mediastinum germ cell tumor UMLS:C1334655|NCIT:C6437 owl:Class MONDO:0005016 biolink:NamedThing diabetic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. tmpte7i6ely_mondo_relaxed.owl type 2 diabetes nephropathy|DKD|diabetic nephropathy|type 1 diabetes nephropathy OMIM:612624|EFO:0004996|OMIM:612628|DOID:11503|EFO:0004997|SCTID:49455004|ICD9:583.81|ICD9:250.4|MESH:D003928|EFO:0000401|DOID:12785|SCTID:127013003|ICD9:250.40|NCIT:C84417|OMIM:612634 owl:Class MONDO:0011214 biolink:NamedThing progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. tmpte7i6ely_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, 3|Mdr3 deficiency|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|ABCB4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 3|PFIC3|progressive familial intrahepatic cholestasis caused by mutation in ABCB4 ICD10:K76.8|Orphanet:172|UMLS:C1865643|GARD:0001289|Orphanet:79305|OMIM:602347|DOID:0070223|MESH:C535935 https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 owl:Class MONDO:0015762 biolink:NamedThing progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. tmpte7i6ely_mondo_relaxed.owl cholestasis, progressive familial intrahepatic|PFIC OMIMPS:211600|UMLS:C0268312|Orphanet:172|OMIM:211600|DOID:0070221|OMIM:601847|OMIM:602347|NCIT:C84453|OMIM:615878|ICD10:K76.8 owl:Class MONDO:0022839 biolink:NamedThing congenital human immunodeficiency virus tmpte7i6ely_mondo_relaxed.owl neonatal HIV|neonatal human immunodeficiency virus|congenital HIV UMLS:C0520783|GARD:0010328 https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus owl:Class MONDO:0034104 biolink:NamedThing global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:544488 owl:Class MONDO:0017356 biolink:NamedThing inborn disorder of ornithine metabolism An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn ornithine metabolic process disorder|rare inborn error of ornithine metabolic process|inborn error of ornithine metabolic process|disorder of ornithine metabolism ICD10:E72.4|UMLS:C0342690|SCTID:237928008|Orphanet:289869 owl:Class MONDO:0003790 biolink:NamedThing prostatic urethra urothelial carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. tmpte7i6ely_mondo_relaxed.owl prostatic urethra urothelial carcinoma NCIT:C39900|DOID:6166|UMLS:C1514522 owl:Class MONDO:0002834 biolink:NamedThing primary prostate urothelial carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra. tmpte7i6ely_mondo_relaxed.owl prostate gland transitional cell carcinoma|prostate transitional cell carcinoma|prostate urothelial carcinoma|transitional cell carcinoma of prostate|primary prostate urothelial cancer|primary prostate urothelial carcinoma|transitional cell carcinoma of the prostate UMLS:C1514430|NCIT:C39898|DOID:4011 owl:Class NCBITaxon:426437 biolink:NamedThing Rhipicephalinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005334 biolink:NamedThing oral lamina propria tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005206 biolink:NamedThing renal carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. tmpte7i6ely_mondo_relaxed.owl renal carcinoma|kidney cancer|kidney carcinoma|kidney (renal) cancer|renal cancer|carcinoma of kidney|kidney (including renal cell) cancer UMLS:C1378703|NCIT:C9384|EFO:0002890|DOID:4451|OMIM:144700|SCTID:254915003 owl:Class MONDO:0007995 biolink:NamedThing microphthalmia, isolated, with cataract 1 tmpte7i6ely_mondo_relaxed.owl MCOPCT1|congenital cataract with microphthalmia|microphthalmia, isolated, with cataract 1|cataract, congenital, with microphthalmia|microphthalmia with cataract 1 OMIM:156850|MESH:C563582|Orphanet:2542|UMLS:C1834919|GARD:0009610 owl:Class MONDO:0000169 biolink:NamedThing microphthalmia, isolated, with cataract tmpte7i6ely_mondo_relaxed.owl OMIMPS:156850 owl:Class MONDO:0010585 biolink:NamedThing X-linked hypohidrotic ectodermal dysplasia An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, 1|ectodermal dysplasia, anhidrotic, X-linked|XHED|hypohidrotic ectodermal dysplasia X-linked|X-linked anhidrotic ectodermal dysplasia|ectodermal dysplasia 1|CST syndrome|X-linked hypohidrotic ectodermal dysplasia|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|Christ-Siemens-Touraine syndrome|Xlhed|Eda1|hypohidrotic ectodermal dysplasia, X-linked|ectodermal dysplasia 1, hypohidrotic, X-linked|anhidrotic ectodermal dysplasia X-linked Orphanet:238468|ICD10:Q82.4|Orphanet:181|SCTID:239007005|GARD:0010427|OMIM:305100 https://github.com/monarch-initiative/mondo/issues/4104 owl:Class UBERON:0004875 biolink:NamedThing nephrogenic cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0017145 biolink:NamedThing stem cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. tmpte7i6ely_mondo_relaxed.owl stem cell renewal owl:Class GO:0051301 biolink:NamedThing cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002067 biolink:NamedThing female breast upper-inner quadrant cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of upper-inner quadrant of female breast ICD10:C50.2|UMLS:C0153550|ICD9:174.2|DOID:1647|SCTID:188152004 owl:Class MONDO:0013251 biolink:NamedThing Birbeck granule deficiency tmpte7i6ely_mondo_relaxed.owl Birbeck granule deficiency|Birbeck granules, absence of OMIM:613393|UMLS:C3150657 owl:Class HP:0003119 biolink:NamedThing Abnormal circulating lipid concentration Any deviation from the normal concentration of a lipid in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Dyslipidemia|Dyslipidaemia SNOMEDCT_US:370992007|UMLS:C0242339|UMLS:C4025650|MSH:D050171 According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. HP:0003611 human_phenotype owl:Class GO:0051953 biolink:NamedThing negative regulation of amine transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down-regulation of amine transport|inhibition of amine transport|down regulation of amine transport|downregulation of amine transport owl:Class GO:0001503 biolink:NamedThing ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpte7i6ely_mondo_relaxed.owl bone formation|osteogenesis|bone biosynthesis owl:Class MONDO:0005921 biolink:NamedThing Plasmodium vivax malaria Malaria resulting from infection by Plasmodium vivax. tmpte7i6ely_mondo_relaxed.owl vivax malaria|malaria by Plasmodium vivax ICD9:084.1|DOID:12978|ICD10:B51.9|ICD10:B51|EFO:0007445|MESH:D016780|UMLS:C0024537|SCTID:27052006|NCIT:C34800 owl:Class GO:0014048 biolink:NamedThing regulation of glutamate secretion Any process that modulates the frequency, rate or extent of the controlled release of glutamate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000367 biolink:NamedThing taeniasis A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. tmpte7i6ely_mondo_relaxed.owl infection by Taeniarhynchus saginatus|beef tapeworm infection|taenia saginata infection|infections, Taenia|unarmed tapeworm infection|Taenia infection|infection by taenia saginata|Taenia saginata infectious disease SCTID:69163003|UMLS:C0152073|EFO:1001433|MESH:D013622|ICD9:123.2|ICD10:B68|NCIT:C85180|DOID:0050596|ICD10:B68.1 owl:Class MONDO:0024271 biolink:NamedThing intestinal helminthiasis A parasitic helminthiasis infectious disease that involves the intestine. tmpte7i6ely_mondo_relaxed.owl intestine parasitic helminthiasis infectious disease SCTID:26249004|MESH:C531698|UMLS:C0348287 owl:Class MONDO:0004844 biolink:NamedThing oral mucosa leukoplakia A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. tmpte7i6ely_mondo_relaxed.owl oral leukoplakia|oral keratosis|oral keratoses|leukoplakia of oral mucosa|leukokeratosis of oral mucosa|leukoplakia of the oral mucosa ICD10:K13.2|DOID:9655|SCTID:414603003|ICD10:K13.21|UMLS:C0023532|MESH:D007972|NCIT:C3187|GARD:0007260|ICD9:528.6 owl:Class UBERON:0008431 biolink:NamedThing sacral foramen tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903488 biolink:NamedThing negative regulation of lactation Any process that stops, prevents or reduces the frequency, rate or extent of lactation. tmpte7i6ely_mondo_relaxed.owl downregulation of lactation|inhibition of lactation|down regulation of lactation|down-regulation of lactation owl:Class MONDO:0014616 biolink:NamedThing Skint1-like pseudogene tmpte7i6ely_mondo_relaxed.owl SKINT1-like pseudogene|Skintp|Skint1-like pseudogene|Skint1L|SKINTL 2022-05-01 OMIM:616392 Reason: out of scope. Term to consider: none owl:Class MONDO:0017758 biolink:NamedThing disorder of vitamin and non-protein cofactor absorption and transport tmpte7i6ely_mondo_relaxed.owl disorder of vitamin and non-protein cofactor absorption and transport Orphanet:309827|UMLS:CN227203 owl:Class MONDO:0006134 biolink:NamedThing cervical adenosquamous carcinoma An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl adenosquamous carcinoma of cervix|adenosquamous cell carcinoma of uterine cervix|cervical adenosquamous cell carcinoma|uterine cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix uteri|cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of the uterine cervix|cervical adenosquamous cancer|adenosquamous cell carcinoma of cervix|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix uteri|adenosquamous cell carcinoma of the cervix|cervical adenosquamous carcinoma NCIT:C4519|UMLS:C0346202|EFO:1000162|ONCOTREE:CEAS|DOID:5636|SCTID:254888007 owl:Class MONDO:0004326 biolink:NamedThing sphenoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpte7i6ely_mondo_relaxed.owl inverted papilloma of the sphenoid sinus|inverted papilloma of sphenoid sinus|sphenoidal sinus inverted papilloma DOID:7678|NCIT:C6841|UMLS:C1336037 owl:Class MONDO:0004327 biolink:NamedThing sphenoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpte7i6ely_mondo_relaxed.owl Schneiderian papilloma of sphenoid sinus|sphenoid sinus Schneiderian papilloma|Schneiderian papilloma of the sphenoid sinus NCIT:C6838|UMLS:C1336038|DOID:7679 owl:Class NBO:0000001 biolink:NamedThing body part movement A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC] tmpte7i6ely_mondo_relaxed.owl stationary movement owl:Class MONDO:0011992 biolink:NamedThing hereditary spastic paraplegia 25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. tmpte7i6ely_mondo_relaxed.owl spinal disc herniation with autosomal recessive spastic paraplegia|spastic paraplegia 25|autosomal recessive spastic paraplegia 25|SPG25|Disc herniation with spastic paraplegia, autosomal recessive|autosomal recessive spastic paraplegia type 25|spastic paraplegia 25, autosomal recessive|hereditary spastic paraplegia type 25|autosomal recessive spastic paraplegia-disc herniation syndrome ICD10:G11.4|DOID:0110776|GARD:0009582|UMLS:C4518003|Orphanet:101005|OMIM:608220|SCTID:732933009|MESH:C536861|UMLS:C2936860 owl:Class UBERON:0035371 biolink:NamedThing retroperitoneal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007268 biolink:NamedThing hypertrophic cardiomyopathy 4 An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 4, susceptibility to|cardiomyopathy, familial hypertrophic, 4|cardiomyopathy, familial hypertrophic, type 4|hypertrophic cardiomyopathy caused by mutation in MYBPC3|familial hypertrophic cardiomyopathy type 4|hypertrophic cardiomyopathy 4|CMH4|MYBPC3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 4 NCIT:C133725|UMLS:C1861862|DOID:0110310|OMIM:115197|MESH:C566169 owl:Class MONDO:0003494 biolink:NamedThing ovarian squamous cell carcinoma A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl ovarian squamous cell cancer|ovary squamous cell carcinoma|ovarian squamous cell carcinoma UMLS:C2019443|EFO:1000432|DOID:5531|NCIT:C40093 owl:Class MONDO:0007382 biolink:NamedThing Ramos-Arroyo syndrome Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. tmpte7i6ely_mondo_relaxed.owl Ramos Arroyo Clark syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation|Ramos-Arroyo syndrome|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|corneal anesthesia-deafness-intellectual disability syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation UMLS:C2930866|Orphanet:1051|ICD10:Q87.8|GARD:0004636|MESH:C535286|OMIM:122430 owl:Class MONDO:0018988 biolink:NamedThing iridocorneal endothelial syndrome Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications tmpte7i6ely_mondo_relaxed.owl ICE syndrome MESH:D057129|NCIT:C84792|UMLS:C1096100|Orphanet:64734|ICD10:H21.1|SCTID:129623003|UMLS:CN205427|GARD:0000060|MedDRA:10053678 owl:Class GO:0009914 biolink:NamedThing hormone transport The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018096 biolink:NamedThing Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. tmpte7i6ely_mondo_relaxed.owl spherophakia brachymorphia syndrome|WM syndrome|spherophakia-brachymorphia syndrome|congenital mesodermal dystrophy|Marchesani-Weill syndrome|WMS|mesodermal Dysmorphodystrophy, congenital|mesodermal dysmorphodystrophy congenital OMIM:614819|MESH:D056846|SCTID:2884008|GARD:0004936|DOID:0050475|OMIM:277600|ICD10:Q87.0|Orphanet:3449|OMIMPS:277600|MedDRA:10064963|NCIT:C85226|UMLS:C0265313|OMIM:608328|OMIM:613195|ICD9:759.89 owl:Class MONDO:0034106 biolink:NamedThing developmental and epileptic encephalopathy, 73 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 73|rnf13-related severe early-onset epileptic encephalopathy|DEE73 OMIM:618379|Orphanet:544503 owl:Class HGNC:15836 biolink:NamedThing PROKR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010822 biolink:NamedThing Warburg micro syndrome 1 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. tmpte7i6ely_mondo_relaxed.owl RAB3GAP1 Warburg micro syndrome|micro syndrome|Warburg micro syndrome 1|Warburg micro syndrome type 1|WARBURG micro syndrome 1|micro syndrome 1|WARBM1|Warburg micro syndrome caused by mutation in RAB3GAP1 Orphanet:2510|DOID:0110716|OMIM:600118|ICD10:Q87.0 owl:Class MONDO:0018868 biolink:NamedThing metachromatic leukodystrophy A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. tmpte7i6ely_mondo_relaxed.owl deficiency of cerebroside-sulfatase|arylsulfatase A deficiency|MLD|Scholz cerebral sclerosis|sulfatide lipoidosis OMIM:250100|MedDRA:10067609|Orphanet:512|OMIM:156310|MESH:D007966|ICD10:E75.29|ICD10:E75.2|DOID:10581|ICD10:E75.25|UMLS:C0023522|NCIT:C61251|OMIM:249900|SCTID:66521008 owl:Class MONDO:0700128 biolink:NamedThing translocation Down syndrome Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome. tmpte7i6ely_mondo_relaxed.owl Robertsonian Translocation Trisomy 21 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0003609 biolink:NamedThing seminal vesicle cystadenoma A rare benign cystadenoma that arises from the seminal vesicle. tmpte7i6ely_mondo_relaxed.owl seminal vesicle cystadenoma NCIT:C39907|UMLS:C1519234|DOID:5724 owl:Class MONDO:0007738 biolink:NamedThing spondyloepiphyseal dysplasia with congenital joint dislocations CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia, Omani type|Kozlowski Celermajer tink syndrome|chondrodysplasia with congenital joint dislocations, CHST3 type|SDCD, CHST3 type|SEDCJD|Gollop Coates syndrome|chondrodysplasia with multiple dislocations|humero-spinal dysostosis with congenital heart disease|Humerospinal dysostosis|Omani type|spondyloepiphyseal dysplasia with congenital joint dislocations|bifurcation of distal humerus with oligoectro-syndactyly|spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|spondyloepiphyseal dysplasia|CHST3-related skeletal dysplasia|spondyloepiphyseal dysplasia with congenital JOINT dislocations OMIM:143095|Orphanet:263463|MESH:C537283|ICD9:756.9|DOID:0050813|GARD:0002533|SCTID:702400006|ICD10:Q74.8 https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome owl:Class MONDO:0030878 biolink:NamedThing Kaya-Barakat-Masson syndrome tmpte7i6ely_mondo_relaxed.owl KABAMAS OMIM:619125 owl:Class MONDO:0020849 biolink:NamedThing immunodeficiency 57 tmpte7i6ely_mondo_relaxed.owl IMD57|IMMUNODEFICIENCY 57 OMIM:618108 owl:Class MONDO:0017804 biolink:NamedThing autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. tmpte7i6ely_mondo_relaxed.owl Orphanet:314572|UMLS:CN203767 owl:Class MONDO:0005803 biolink:NamedThing hyperinsulinemic hypoglycemia An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia (disease)|hyperinsulinemia hypoglycemia|islet cell hyperplasia|nesidioblastosis|persistent hyperinsulinemia hypoglycemia of infancy hyperinsulinemic hypoglycemia (disease) OMIMPS:256450|OMIM:609968|DOID:13317|SCTID:42681006|ICD10:E16.9|Orphanet:443095|HP:0000825|OMIM:256450|OMIM:609975|OMIM:610021|OMIM:601820|OMIM:602485|OMIM:606762|EFO:0007318 owl:Class MONDO:0010237 biolink:NamedThing X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. tmpte7i6ely_mondo_relaxed.owl plagiocephaly and X-linked intellectual disability|mental retardation, X-linked, Hyde-Forster type|Hyde Forster McCarthy Berry syndrome|intellectual disability, X-linked, with craniofacial dysmorphism|Hyde Forster-McCarthy-Berry syndrome|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|plagiocephaly and X-linked mental retardation|mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|intellectual disability, X-linked, Hyde-Forster type|mental retardation, X-linked Hyde-Forster type|mental retardation, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked Hyde-Forster type GARD:0004377|ICD10:Q87.0|OMIM:300064|GARD:0002765|Orphanet:2898|MESH:C537512|UMLS:C2931516|SCTID:719812008 owl:Class HP:0011895 biolink:NamedThing Anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. tmpte7i6ely_mondo_relaxed.owl Anaemia due to reduced life span of red cells UMLS:C4021112 peter 2012-06-03T09:26:17Z human_phenotype owl:Class HP:0100799 biolink:NamedThing Neoplasm of the middle ear A tumor (abnormal growth of tissue) of the middle ear. tmpte7i6ely_mondo_relaxed.owl Middle ear tumour|Middle ear tumor|Neoplasia of the middle ear NCIT:C3262|SNOMEDCT_US:127006003|UMLS:C0345617 doelkens 2011-06-08T04:25:43Z human_phenotype owl:Class HP:0012780 biolink:NamedThing Neoplasm of the ear A tumor (abnormal growth of tissue) of the ear. tmpte7i6ely_mondo_relaxed.owl Ear tumor|Ear tumour UMLS:C0013449|SNOMEDCT_US:363228008|NCIT:C3262|MSH:D004428 peter 2014-04-07T06:11:56Z human_phenotype owl:Class NCBITaxon:7165 biolink:NamedThing Anopheles gambiae tmpte7i6ely_mondo_relaxed.owl Anopheles gambiae sensu stricto|Anopheles gambiae S|African malaria mosquito GC_ID:1|PMID:16076241 NCBITaxon:377270 ncbi_taxonomy owl:Class NCBITaxon:44542 biolink:NamedThing gambiae species complex tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005514 biolink:NamedThing nanophthalmia Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. tmpte7i6ely_mondo_relaxed.owl Orphanet:35612|OMIM:611897|DOID:0080634|OMIM:600165|OMIM:609549|OMIM:615972|SCTID:716775009 owl:Class HP:0100871 biolink:NamedThing Abnormality of the palm An abnormality of the palm, that is, of the front of the hand. tmpte7i6ely_mondo_relaxed.owl Abnormality of the palm UMLS:C4021948 doelkens 2011-11-30T11:21:16Z human_phenotype owl:Class HP:0001155 biolink:NamedThing Abnormality of the hand An abnormality affecting one or both hands. tmpte7i6ely_mondo_relaxed.owl Abnormality of the hand|Hand deformities|Hand anomalies|Abnormal hands SNOMEDCT_US:299033004|UMLS:C0018564|MSH:D006226 HP:0005858 human_phenotype owl:Class MONDO:0004703 biolink:NamedThing bladder carcinoma in situ Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) tmpte7i6ely_mondo_relaxed.owl carcinoma in situ of bladder|high grade bladder Intraurothelial neoplasia|bladder Ca in situ|stage 0is bladder urothelial carcinoma aJCC v7|flat carcinoma in situ of the urinary bladder|urinary bladder in situ carcinoma|flat CIS of the bladder|stage 0is urinary bladder carcinoma|flat carcinoma in situ of the bladder|stage 0is bladder cancer|stage 0is carcinoma of the bladder|stage 0is bladder carcinoma|stage 0is bladder urothelial carcinoma aJCC v6|stage 0is carcinoma of the urinary bladder|urinary bladder carcinoma in situ|bladder flat CIS|flat CIS of the urinary bladder|stage 0is bladder urothelial carcinoma aJCC v6 and v7|stage 0is bladder urothelial carcinoma|bladder flat carcinoma in situ|stage 0is bladder urothelial cancer|urinary bladder flat carcinoma in situ|stage 0 urinary bladder carcinoma|carcinoma in situ of the urinary bladder|stage 0is carcinoma of urinary bladder|stage 0is carcinoma of bladder|carcinoma in situ of urinary bladder|cancer in situ of urinary bladder|urinary bladder flat CIS ICD9:233.7|SCTID:92546004|ICD10:D09.0|DOID:9053|UMLS:C0154091|NCIT:C3644 owl:Class MONDO:0003930 biolink:NamedThing non-invasive bladder urothelial carcinoma Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) tmpte7i6ely_mondo_relaxed.owl non-invasive bladder urothelial carcinoma|stage 0 transitional cell carcinoma of bladder|stage 0 bladder urothelial carcinoma aJCC v6|stage 0 bladder urothelial cancer|stage 0 urinary bladder transitional cell carcinoma|stage 0 bladder urothelial carcinoma aJCC v7|stage 0 bladder urothelial carcinoma aJCC v6 and v7|stage 0 transitional cell carcinoma of urinary bladder|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the urinary bladder|stage 0 transitional cell carcinoma of the bladder UMLS:C1336089|NCIT:C6188|DOID:6571 owl:Class MONDO:0043494 biolink:NamedThing arteritis An inflammatory process affecting an artery. tmpte7i6ely_mondo_relaxed.owl inflammation of artery|arteritis|arterial Inflammation|Inflammation, arterial|Arteritides|artery inflammation HP:0012089|NCIT:C34399|EFO:0009011|MESH:D001167|SCTID:52089001 owl:Class MONDO:0004880 biolink:NamedThing bowel dysfunction Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction. tmpte7i6ely_mondo_relaxed.owl disease of lower digestive tract|lower digestive tract disease ICD10:K59.9|SCTID:235594008|UMLS:C2004461|ICD9:564.9|DOID:9779 owl:Class CL:0000958 biolink:NamedThing T1 B cell A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative. tmpte7i6ely_mondo_relaxed.owl T1 B-cell|T1 B-lymphocyte|T1 B lymphocyte|transitional stage 1 B cell T1 B cells are also reportedly CD10-negative/positive??, CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. cell owl:Class CL:0000818 biolink:NamedThing transitional stage B cell An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. tmpte7i6ely_mondo_relaxed.owl T2 B cell|transitional stage B lymphocyte|transitional stage B-lymphocyte|T1 B cell|transitional B cell|transitional stage B-cell|T3 B cell This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. cell owl:Class HGNC:15840 biolink:NamedThing KMT2B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016126 biolink:NamedThing sterol biosynthetic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpte7i6ely_mondo_relaxed.owl sterol biosynthesis|sterol synthesis|sterol formation|sterol anabolism owl:Class MONDO:0018761 biolink:NamedThing SMARCA4-deficient sarcoma of thorax tmpte7i6ely_mondo_relaxed.owl SMARCA4-deficient thoracic sarcoma Orphanet:466962|UMLS:CN242100|DOID:0080532 owl:Class MONDO:0020796 biolink:NamedThing Silver-Russell syndrome 1 tmpte7i6ely_mondo_relaxed.owl SRS1 OMIM:180860 owl:Class MONDO:0007204 biolink:NamedThing Cole-Carpenter syndrome 1 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene. tmpte7i6ely_mondo_relaxed.owl Cole-Carpenter syndrome type 1|Cole-Carpenter syndrome caused by mutation in P4HB|COLE-CARPENTER syndrome 1|Cole-Carpenter syndrome 1|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features|CLCRP1|P4HB Cole-Carpenter syndrome Orphanet:2050|UMLS:CN029402|OMIM:112240|UMLS:C4317154|UMLS:C1862178 owl:Class MONDO:0016085 biolink:NamedThing Cole-Carpenter syndrome Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). tmpte7i6ely_mondo_relaxed.owl Cole Carpenter syndrome|bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Orphanet:2050|DOID:0060438|GARD:0001425|NCIT:C130985|UMLS:C1862178|OMIM:112240|OMIM:616294|ICD10:Q78.0|MESH:C535963|OMIMPS:112240 owl:Class MONDO:0009028 biolink:NamedThing Crane-Heise syndrome Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. tmpte7i6ely_mondo_relaxed.owl cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus|Crane-Heise syndrome MESH:C536452|SCTID:715991005|GARD:0008428|ICD10:Q87.5|Orphanet:1512|OMIM:218090|UMLS:C1857532 https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome owl:Class MONDO:0009241 biolink:NamedThing fountain syndrome Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. tmpte7i6ely_mondo_relaxed.owl intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|fountain syndrome|deafness, skeletal dysplasia, lip granuloma|deafness-skeletal dysplasia-coarse face with full lips syndrome|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness-skeletal dysplasia-lip granuloma syndrome|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips GARD:0000064|ICD10:Q87.8|Orphanet:3219|UMLS:C0795944|MESH:C537270|SCTID:720957007|OMIM:229120 https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome owl:Class CHEBI:33433 biolink:NamedThing monoatomic halogen tmpte7i6ely_mondo_relaxed.owl monoatomic halogens owl:Class NCBITaxon:34503 biolink:NamedThing Paragonimus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1000606 biolink:NamedThing kidney nerve cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001015 cell owl:Class MONDO:0016456 biolink:NamedThing 5q14.3 microdeletion syndrome The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. tmpte7i6ely_mondo_relaxed.owl monosomy 5q14.3|Del(5)(q14.3)|chromosome 5q14.3 deletion syndrome|autosomal dominant intellectual disability 20|5q14.3 deletion syndrome Orphanet:228384|OMIM:613443|SCTID:719661007|GARD:0012166|ICD10:Q93.5 Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this owl:Class UBERON:0014881 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014886 biolink:NamedThing distal epiphysis of distal phalanx of manual digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007781 biolink:NamedThing essential hypertension, genetic An instance of essential hypertension that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl Eht|genetic essential hypertension|hypertension, essential UMLS:C0085580|OMIM:145500 owl:Class MONDO:0005901 biolink:NamedThing pasteurellosis Infections with bacteria of the genus pasteurella. tmpte7i6ely_mondo_relaxed.owl Pasteurella infection|Pasteurella infectious disease|Pasteurella disease or disorder|Pasteurella caused disease or disorder ICD9:027.2|ICD10:A28.0|SCTID:83172007|EFO:0007424|UMLS:C0030636|MESH:D010326|DOID:11055 owl:Class HGNC:4087 biolink:NamedThing GABRG2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005342 biolink:NamedThing organic acid transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002079 biolink:NamedThing pancreatic ductal cell Epithelial cell found in the ducts of the pancreas. This cell type contributes to the high luminal pH. tmpte7i6ely_mondo_relaxed.owl FMA:63099 tmeehan 2010-06-30T08:49:43Z cell owl:Class HGNC:30551 biolink:NamedThing TXNL4A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005629 biolink:NamedThing vascular plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006010 biolink:NamedThing salmonid viral hemorrhagic septicemia A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus), tmpte7i6ely_mondo_relaxed.owl EFO:0007539|MESH:D031941|UMLS:C1135869 owl:Class MONDO:0005944 biolink:NamedThing Rhabdoviridae infectious disease Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis. tmpte7i6ely_mondo_relaxed.owl infections, Rhabdoviridae|infection, Rhabdoviridae|Rhabdoviridae infection UMLS:C0206751|MESH:D018353|EFO:0007469 owl:Class BFO:0000003 biolink:NamedThing occurrent An entity that has temporal parts and that happens, unfolds or develops through time.|An entity that has temporal parts and that happens, unfolds or develops through time. tmpte7i6ely_mondo_relaxed.owl Occurrent occurrent Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame.|BFO 2 Reference: s-dependence obtains between every process and its participants in the sense that, as a matter of necessity, this process could not have existed unless these or those participants existed also. A process may have a succession of participants at different phases of its unfolding. Thus there may be different players on the field at different times during the course of a football game; but the process which is the entire game s-depends_on all of these players nonetheless. Some temporal parts of this process will s-depend_on on only some of the players.|Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process.|BFO 2 Reference: every occurrent that is not a temporal or spatiotemporal region is s-dependent on some independent continuant that is not a spatial region An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002]) (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001] |(forall (x) (if (Occurrent x) (exists (r) (and (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion x r))))) // axiom label in BFO2 CLIF: [108-001] b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001])|Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001]) owl:Class MONDO:0012163 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. tmpte7i6ely_mondo_relaxed.owl SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID ICD10:D81.2|UMLS:C1837028|MESH:C563822|OMIM:608971|Orphanet:169157|Orphanet:169160|DOID:0090014|Orphanet:169154 Editor note: check relationship to sibs owl:Class MONDO:0024934 biolink:NamedThing fish disease Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). tmpte7i6ely_mondo_relaxed.owl fish disease|disease, fish|diseases, fish MESH:D005393|UMLS:C0016154 owl:Class MONDO:0014661 biolink:NamedThing epidermolysis bullosa simplex with nail dystrophy tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex with nail dystrophy|EBSND OMIM:616487|UMLS:C4225309 owl:Class UBERON:0036267 biolink:NamedThing vulval vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016004 biolink:NamedThing aminopterin/methotrexate embryofetopathy Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. tmpte7i6ely_mondo_relaxed.owl aminopterin syndrome|fetal aminopterin syndrome|aminopterin embryopathy syndrome|aminopterin fetopathy syndrome|fetal methotrexate syndrome NCIT:C98928|Orphanet:1908|ICD9:759.89|UMLS:C0432367|ICD10:Q86.8|SCTID:65986000|MedDRA:10071183|GARD:0002294 owl:Class ENVO:01001010 biolink:NamedThing hydrometeor A meteor which is primarily composed of water. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001008 biolink:NamedThing meteor A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035450 biolink:NamedThing cervical part of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019144 biolink:NamedThing hereditary thrombophilia due to congenital protein S deficiency Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. tmpte7i6ely_mondo_relaxed.owl autosomal recessive thrombophilia due to congenital protein S deficiency|severe hereditary thrombophilia due to congenital protein S deficiency|hereditary thrombophilia due to congenital protein S deficiency OMIM:612336|OMIM:614514|ICD10:D68.5|Orphanet:743 owl:Class UBERON:0012180 biolink:NamedThing head or neck skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007818 biolink:NamedThing Hyper-IgE recurrent infection syndrome 1 A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. tmpte7i6ely_mondo_relaxed.owl hyper-IgE recurrent infection syndrome, autosomal dominant|Job's syndrome|hyperimmunoglobulin E syndrome type 1|Job syndrome autosomal dominant|JOB syndrome|autosomal dominant hyper-IgE syndrome|HIES autosomal dominant|AD-HIES|autosomal dominant hyper IgE syndrome|hyperimmunoglobulin E-recurrent infection syndrome|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant|autosomal dominant hyperimmunoglobulin E syndrome|immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist|autosomal dominant HIES|STAT3 deficiency|hyper Ig E syndrome, autosomal dominant|Buckley syndrome|AD hyperimmunoglobulin E syndrome|hyper-IgE syndrome, autosomal dominant|HIES, autosomal dominant UMLS:C1840265|OMIM:147060|DOID:3261|MESH:C564135|EFO:0003775|GARD:0006800|NCIT:C126342|ICD10:D82.4|OMIM:146840|Orphanet:2314|MESH:C567925|SCTID:50926003 https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome owl:Class MONDO:0019465 biolink:NamedThing nodal marginal zone B-cell lymphoma Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. tmpte7i6ely_mondo_relaxed.owl Monocytoid B-cell lymphoma|nodal marginal zone B-cell lymphoma|nodal marginal zone lymphoma|nodal marginal zone B-cell lymph.|NMZL ICD10:C83.0|ONCOTREE:NMZL|UMLS:C0855139|Orphanet:86867|MedDRA:10029460|DOID:0080211|SCTID:277623009|NCIT:C8863 owl:Class MONDO:0013361 biolink:NamedThing congenital prothrombin deficiency Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. tmpte7i6ely_mondo_relaxed.owl congenital prothrombin deficiency|hypoprothrombinemia|hereditary prothrombin deficiency|prothrombin deficiency, congenital|congenital factor II deficiency|factor II deficiency|prothrombin deficiency|factor 2 deficiency|Dysprothrombinemia DOID:2235|SCTID:73975000|ICD9:286.3|ICD10:D68.2|Orphanet:325|UMLS:C0020640|GARD:0002235|NCIT:C131737|OMIM:613679|MESH:D007020 https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency owl:Class MONDO:0001709 biolink:NamedThing hypercalcemic sarcoidosis Sarcoidosis with a complication of hypercalcemia. tmpte7i6ely_mondo_relaxed.owl NCIT:C35807|DOID:13407|UMLS:C1334067 owl:Class MONDO:0024499 biolink:NamedThing vascular bone neoplasm A benign, intermediate, or malignant vascular neoplasm that arises from the bone. tmpte7i6ely_mondo_relaxed.owl vascular neoplasm of bone|bone vascular neoplasm|osseous vascular tumor|vascular bone neoplasm|bone vascular tumor|osseous vascular neoplasm|vascular tumor of bone|vascular neoplasm of the bone|vascular tumor of the bone NCIT:C6478|UMLS:C1336946 owl:Class GO:0045260 biolink:NamedThing plasma membrane proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. tmpte7i6ely_mondo_relaxed.owl plasma membrane hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex|hydrogen-transporting ATP synthase|hydrogen-translocating F-type ATPase complex owl:Class GO:0045259 biolink:NamedThing proton-transporting ATP synthase complex A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. tmpte7i6ely_mondo_relaxed.owl F1-F0 complex|hydrogen-transporting ATP synthase complex|hydrogen-translocating F-type ATPase complex|proton-transporting F-type ATPase complex owl:Class UBERON:0014702 biolink:NamedThing frontonasal process epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002015 biolink:NamedThing kidney capsule tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060457 biolink:NamedThing negative regulation of digestive system process Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11536 biolink:NamedThing TAF2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000041 biolink:NamedThing transition metal ion transport The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpte7i6ely_mondo_relaxed.owl transition metal transport owl:Class PATO:0002039 biolink:NamedThing biconcave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012317 biolink:NamedThing vagina orifice tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009811 biolink:NamedThing osteoma of middle ear tmpte7i6ely_mondo_relaxed.owl osteoma of middle ear MESH:C564917|OMIM:259650|UMLS:C1850142 owl:Class MONDO:0015824 biolink:NamedThing oculomaxillofacial dysostosis Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. tmpte7i6ely_mondo_relaxed.owl oblique facial clefts|oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome|Richieri-Costa-Gorlin syndrome MESH:C537736|GARD:0004046|OMIM:600251|UMLS:C1838348|ICD10:Q75.1|SCTID:763830009|Orphanet:1794 owl:Class NCBITaxon:482538 biolink:NamedThing Cystoisospora belli tmpte7i6ely_mondo_relaxed.owl Isospora belli GC_ID:1 NCBITaxon:59309 ncbi_taxonomy owl:Class NCBITaxon:242060 biolink:NamedThing Cystoisospora tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005660 biolink:NamedThing 2nd arch ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034216 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha tmpte7i6ely_mondo_relaxed.owl resistance to thyroid hormone alpha Orphanet:566231 owl:Class GO:0042640 biolink:NamedThing anagen The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair. tmpte7i6ely_mondo_relaxed.owl hair growth owl:Class GO:0044851 biolink:NamedThing hair cycle phase The cyclical periods of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021310 biolink:NamedThing malignant tumor of neck A cancer that involves the neck. tmpte7i6ely_mondo_relaxed.owl neck cancer|malignant neoplasm of neck|malignant neoplasm of the neck|malignant neck neoplasm|cancer of neck|malignant tumor of the neck|malignant neck tumor|cancer of the neck UMLS:C0746787|NCIT:C4940|SCTID:363489000 owl:Class MONDO:0019028 biolink:NamedThing amoebiasis due to Entamoeba histolytica A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. tmpte7i6ely_mondo_relaxed.owl ICD10:A06.5|Orphanet:67|ICD10:A06.4|MESH:C531613|ICD10:A06.1|ICD10:A06.9|ICD10:A06.3|ICD10:A06.6|UMLS:C2930799|ICD10:A06.2|ICD10:A06.8|ICD10:A06.7|ICD10:A06.0 owl:Class MONDO:0011578 biolink:NamedThing familial papillary thyroid carcinoma with renal papillary neoplasia Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). tmpte7i6ely_mondo_relaxed.owl Ptcprn|ptc-RCC|thyroid carcinoma, papillary, with papillary renal neoplasia|Prn1 UMLS:C1854104|ICD10:C73|Orphanet:97290|ICD10:C64|OMIM:605642|MESH:C565310|SCTID:717734005 Editor note: check MONDO:0000201 thyroid cancer, nonmedullary owl:Class MONDO:0006671 biolink:NamedThing Bacteroides infectious disease Infections with bacteria of the genus bacteroides. tmpte7i6ely_mondo_relaxed.owl Bacteroides infection|Bacteroides disease or disorder|infection, Bacteroides|infection caused by Bacteroides|infection due to Bacteroides|infections, Bacteroides|Bacteroides caused disease or disorder SCTID:2918000|ICD9:041.84|EFO:1000832|MESH:D001442|UMLS:C0004669 owl:Class MONDO:0013506 biolink:NamedThing schizophrenia 16 A schizophrenia that has material basis in a mutation on chromosome 7q36.3. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 7Q36.3-related|chromosome 7Q36.3 Duplication syndrome, 362-Kb|schizophrenia 16|schizophrenia type 16|SCZD16 DOID:0070092|UMLS:C3151408|OMIM:613959 owl:Class GO:0046504 biolink:NamedThing glycerol ether biosynthetic process The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. tmpte7i6ely_mondo_relaxed.owl glycerol ether synthesis|glycerol ether formation|glycerol ether biosynthesis|glycerol ether anabolism owl:Class GO:1901503 biolink:NamedThing ether biosynthetic process The chemical reactions and pathways resulting in the formation of ether. tmpte7i6ely_mondo_relaxed.owl ether formation|ether anabolism|ether synthesis|ether biosynthesis owl:Class CL:1000320 biolink:NamedThing large intestine goblet cell A goblet cell that is part of the epithelium of large intestine. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of large intestine FMA:263054 cell owl:Class MONDO:0020306 biolink:NamedThing absent tibia-polydactyly syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. tmpte7i6ely_mondo_relaxed.owl absence of tibia with polydactyly|polydactyly with absent tibia|tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988|MESH:C535564|DOID:0111564|ICD10:Q87.2|UMLS:C1861099|GARD:0008309|OMIM:188740 owl:Class MONDO:0008572 biolink:NamedThing tibia, hypoplasia or aplasia of, with polydactyly tmpte7i6ely_mondo_relaxed.owl tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia|THYP|tibia, hypoplasia or aplasia of, with polydactyly MESH:C566046|DOID:0111564|Orphanet:3332|UMLS:C1861099|OMIM:188740|Orphanet:988 owl:Class MONDO:0021155 biolink:NamedThing X-linked cone-rod dystrophy X-linked form of cone-rod dystrophy. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy, X-linked OMIM:304020 owl:Class MONDO:0009027 biolink:NamedThing cramps, familial adolescent tmpte7i6ely_mondo_relaxed.owl cramps, familial adolescent OMIM:218050 owl:Class UBERON:0005175 biolink:NamedThing chest organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018703 biolink:NamedThing isolated splenogonadal fusion tmpte7i6ely_mondo_relaxed.owl SGF ICD10:Q89.0|UMLS:CN242095|Orphanet:457083 owl:Class MONDO:0018002 biolink:NamedThing adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. tmpte7i6ely_mondo_relaxed.owl adult-onset CPEO with mitochondrial myopathy OMIM:616479|ICD10:G71.3|SCTID:725464001|Orphanet:329336|UMLS:C4511138 owl:Class MONDO:0019490 biolink:NamedThing progressive familial heart block A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. tmpte7i6ely_mondo_relaxed.owl familial progressive heart block|familial Lev disease|hereditary bundle branch defect|PFHB|familial Lenegre disease|familial PCCD|familial Lev-Lenegre disease|familial Lev-Lenègre disease|familial progressive cardiac conduction defect|familial Lenègre disease GARD:0010005|OMIM:604559|SCTID:698249005|UMLS:CN206278|OMIM:612838|Orphanet:871|ICD10:I45.8|OMIM:115080|ICD9:426.6|OMIM:140400|SCTID:93130009|DOID:0111073|OMIM:113900|OMIMPS:113900 owl:Class GO:0060557 biolink:NamedThing positive regulation of vitamin D biosynthetic process Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006906 biolink:NamedThing pigmented villonodular synovitis Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment. tmpte7i6ely_mondo_relaxed.owl diffuse-type GCT|tenosynovial giant cell tumors|tenosynovial giant cell tumor|TSGCT|diffuse-type giant cell tumor|villonodular synovitis|localized pigmented villonodular synovitis|villous tenosynovitis|diffuse Giant cell tumor of Tenosynovium|TGCT|diffuse pigmented villonodular synovitis ICD9:719.20|MESH:D013586|ICD10:M12.2|EFO:1001106|DOID:9898|UMLS:C0039106|DOID:2702|SCTID:95412009|ICD9:719.28|ICD9:719.2|Orphanet:66627|GARD:0007396|ICD10:M12.20 MONDO:0004916 https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis owl:Class UBERON:0006929 biolink:NamedThing glandular columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3767 biolink:NamedThing FLT4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010544 biolink:NamedThing cataract 40 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. tmpte7i6ely_mondo_relaxed.owl CTRCT40|cataract 40 with or without microcornea|cataract congenital X-linked|cataract, congenital, X-linked|cataract 40, X-linked|cataract, congenital total, with posterior sutural opacities in heterozygotes|NHS early-onset non-syndromic cataract|cataract 40 X-linked|cataract, congenital, with microcornea or slight microphthalmia|early-onset non-syndromic cataract caused by mutation in NHS|cataract type 40|cataract 40 Orphanet:98991|MESH:C535338|Orphanet:98994|DOID:0110272|Orphanet:91492|ICD10:Q12.0|GARD:0008278|OMIM:302200 owl:Class GO:1905154 biolink:NamedThing negative regulation of membrane invagination Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination. tmpte7i6ely_mondo_relaxed.owl down-regulation of membrane invagination|downregulation of membrane invagination|down regulation of membrane invagination|inhibition of membrane invagination owl:Class ECTO:1000019 biolink:NamedThing exposure to high pressure environment A exposure event involving the interaction of an exposure receptor to high pressure environment. tmpte7i6ely_mondo_relaxed.owl high pressure environment exposure owl:Class ECTO:0600000 biolink:NamedThing exposure to environmental system A exposure event involving the interaction of an exposure receptor to environmental system. tmpte7i6ely_mondo_relaxed.owl environmental system exposure owl:Class MONDO:0019874 biolink:NamedThing distal trisomy 7p Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. tmpte7i6ely_mondo_relaxed.owl distal duplication 7p|telomeric duplication 7p|distal trisomy type 7p|trisomy 7pter Orphanet:96074|SCTID:763276000|ICD10:Q92.3 owl:Class MONDO:0016944 biolink:NamedThing partial duplication of the short arm of chromosome 7 Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl Duplication 7p|partial trisomy of chromosome 7p|partial duplication of chromosome 7p|7p trisomy|trisomy 7p|partial trisomy of the short arm of chromosome 7|partial trisomy 7p|partial duplication of the short arm of chromosome type 7|chromosome 7p duplication|7p duplication UMLS:C0795820|MESH:C537819|Orphanet:262749|GARD:0005355 owl:Class CHEBI:17891 biolink:NamedThing donor A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. tmpte7i6ely_mondo_relaxed.owl donneur|Donor|Donator owl:Class GO:1902338 biolink:NamedThing negative regulation of apoptotic process involved in morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpte7i6ely_mondo_relaxed.owl inhibition of apoptotic process involved in morphogenesis|down regulation of apoptosis involved in morphogenesis|downregulation of apoptosis involved in development|down-regulation of apoptosis involved in development|negative regulation of apoptosis involved in morphogenesis|inhibition of morphogenetic apoptosis|negative regulation of morphogenetic apoptosis|downregulation of apoptosis involved in morphogenesis|downregulation of morphogenetic apoptosis|down regulation of apoptosis involved in development|down regulation of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|inhibition of apoptosis involved in development|down-regulation of apoptosis involved in morphogenesis|down-regulation of morphogenetic apoptosis|negative regulation of apoptosis involved in development|down-regulation of apoptotic process involved in morphogenesis|down regulation of apoptotic process involved in morphogenesis owl:Class CHEBI:53368 biolink:NamedThing ionic macromolecule A macromolecule containing ionic groups. tmpte7i6ely_mondo_relaxed.owl ionic polymer|polyionic macromolecule owl:Class CHEBI:33839 biolink:NamedThing macromolecule A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl macromolecule|polymer molecule|macromolecules|polymer|polymers owl:Class GO:2001252 biolink:NamedThing positive regulation of chromosome organization Any process that activates or increases the frequency, rate or extent of chromosome organization. tmpte7i6ely_mondo_relaxed.owl positive regulation of chromosome organization and biogenesis|positive regulation of maintenance of genome integrity|positive regulation of nuclear genome maintenance|positive regulation of chromosome organisation owl:Class GO:0042634 biolink:NamedThing regulation of hair cycle Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012489 biolink:NamedThing cataract 23 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene. tmpte7i6ely_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in CRYBA4|cataract 23|cataract 23, lamellar|cataract type 23|CRYBA4 early-onset non-syndromic cataract|cataract 23, multiple types, with or without microcornea|CTRCT23|lamellar cataract 23|cataract 23, multiple types ICD10:Q12.0|DOID:0110271|Orphanet:91492|Orphanet:98995|UMLS:C3808012|OMIM:610425 owl:Class MONDO:0016361 biolink:NamedThing isolated hereditary giant platelet disorder tmpte7i6ely_mondo_relaxed.owl isolated hereditary macrothrombocytopenia|isolated inherited giant platelet disorder|isolated inherited macrothrombocytopenia|isolated hereditary giant platelet disorder Orphanet:220452|ICD10:D69.1|UMLS:CN226911 owl:Class MONDO:0004118 biolink:NamedThing cystitis cystica A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells. tmpte7i6ely_mondo_relaxed.owl UMLS:C0152262|NCIT:C96230|SCTID:13285005|DOID:7138|ICD9:595.81 owl:Class GO:0015276 biolink:NamedThing ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl ionotropic receptor activity owl:Class GO:0005216 biolink:NamedThing ion channel activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0150073 biolink:NamedThing regulation of protein-glutamine gamma-glutamyltransferase activity Any process that modulates the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010936 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene. tmpte7i6ely_mondo_relaxed.owl CHMP2B-related amyotrophic lateral sclerosis|dementia, familial nonspecific|amyotrophic lateral sclerosis caused by mutation in CHMP2B|CHMP2B amyotrophic lateral sclerosis|Dmt1|FTD3|frontotemporal dementia, chromosome 3-linked|amyotrophic lateral sclerosis, Chmp2B-related OMIM:614696|SCTID:702393003|MESH:C563708|Orphanet:282|Orphanet:803|UMLS:C1836076|Orphanet:275864|DOID:0060208|MESH:C579991|OMIM:600795|ICD9:331.19|DOID:0111227|UMLS:C1833296 owl:Class MONDO:0004322 biolink:NamedThing non-gestational ovarian choriocarcinoma A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. tmpte7i6ely_mondo_relaxed.owl UMLS:C1518355|NCIT:C39991|DOID:7665 owl:Class HGNC:436 biolink:NamedThing ALOX5AP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015924 biolink:NamedThing pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). tmpte7i6ely_mondo_relaxed.owl PPH|idiopathic pulmonary hypertension|pulmonary arterial hypertension|PAH SCTID:11399002|GARD:0007501|UMLS:CN200519|Orphanet:182090|MedDRA:10064911|UMLS:C2973725 owl:Class GO:0042981 biolink:NamedThing regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process. tmpte7i6ely_mondo_relaxed.owl apoptosis regulator activity|regulation of apoptosis owl:Class UBERON:0035073 biolink:NamedThing duct of eccrine sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010687 biolink:NamedThing pedal digit metatarsal pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0047453 biolink:NamedThing ATP-dependent NAD(P)H-hydrate dehydratase activity Catalysis of the reaction: (6S)-6beta-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide + ATP = ADP + 3 H(+) + NADH + phosphate. tmpte7i6ely_mondo_relaxed.owl ATP-dependent H4NAD(P)OH dehydratase activity|(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase(ATP-hydrolysing; NADH-forming)|(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase (ATP-hydrolysing)|reduced nicotinamide adenine dinucleotide hydrate dehydratase activity|ATP-dependent H(4)NAD(P)OH dehydratase activity owl:Class GO:0016836 biolink:NamedThing hydro-lyase activity Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000106 biolink:NamedThing 12-year-old human stage Child stage that refers to a child who is over 12 and under 13 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006747 biolink:NamedThing enterotoxemia Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. tmpte7i6ely_mondo_relaxed.owl ICD9:799.89|UMLS:C0014371|EFO:1000922|MESH:D004767|SCTID:370514003 owl:Class UBERON:0039168 biolink:NamedThing colic lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0037531 biolink:NamedThing intestinal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007435 biolink:NamedThing dentatorubral-pallidoluysian atrophy Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. tmpte7i6ely_mondo_relaxed.owl dentatorubral pallidoluysian atrophy|dentatorubral-pallidoluysian atrophy|NOD|DRPLA|haw River syndrome|Naito-Oyanagi disease|myoclonic epilepsy with choreoathetosis|Dentatorubropallidoluysian atrophy|ataxia, chorea, seizures, and dementia|Naito Oyanagi disease NCIT:C122653|DOID:0060162|UMLS:C0751781|GARD:0005643|Orphanet:101|OMIM:125370|ICD9:333.99|SCTID:68116008|ICD10:G11.8 https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy owl:Class MONDO:0013256 biolink:NamedThing chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. tmpte7i6ely_mondo_relaxed.owl Del(15)(q24)|chromosome 15q24 deletion syndrome|monosomy 15q24|WITKOS|15q24 microdeletion syndrome|Witteveen-Kolk syndrome|chromosome 15Q24 Duplication syndrome ICD10:Q93.5|UMLS:CN237818|Orphanet:94065|SCTID:699308002|DOID:0060395|UMLS:C3150674|MESH:C579849|GARD:0012219|OMIM:613406 owl:Class MONDO:0020160 biolink:NamedThing secondary entropion tmpte7i6ely_mondo_relaxed.owl ICD10:H02.0|Orphanet:98569 owl:Class CHEBI:25196 biolink:NamedThing mercury molecular entity tmpte7i6ely_mondo_relaxed.owl mercury molecular entities|mercury compounds owl:Class CHEBI:33673 biolink:NamedThing zinc group molecular entity tmpte7i6ely_mondo_relaxed.owl zinc group molecular entities owl:Class MONDO:0018534 biolink:NamedThing squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of liver and IBT UMLS:CN242131|ICD10:C22.0|Orphanet:424975|ICD10:C22.1 owl:Class GO:2000726 biolink:NamedThing negative regulation of cardiac muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl negative regulation of cardiomyocyte differentiation|negative regulation of heart muscle cell differentiation owl:Class HGNC:9642 biolink:NamedThing PTPN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017398 biolink:NamedThing 3MC syndrome 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. tmpte7i6ely_mondo_relaxed.owl oculopalatoskeletal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome|craniofacial-ulnar-renal syndrome DOID:0060225|ICD10:Q87.8|OMIM:257920|OMIMPS:257920|OMIM:248340|GARD:0001118|OMIM:265050|UMLS:CN230015|SCTID:720756005|Orphanet:293843 https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome owl:Class MONDO:0005541 biolink:NamedThing spondylolysis A defect in the pars interarticularis of a vertebral bone. tmpte7i6ely_mondo_relaxed.owl spondylolysis|spondylolysis (disease) spondylolysis (disease) SCTID:240221008|MESH:D013169|UMLS:C0038018|SCTID_2010_1_31:240221008|ICD10:M43.0|ICD10:M43.00|DOID:2300|HP:0003304|EFO:0005649|NCIT:C35034 owl:Class MONDO:0045002 biolink:NamedThing vertebral disorder A disease or disorder that involves the vertebra. tmpte7i6ely_mondo_relaxed.owl disease or disorder of vertebra|vertebra disease|vertebra disease or disorder|disease of vertebra|disorder of vertebra SCTID:430886005|UMLS:C2316319 owl:Class MONDO:0004500 biolink:NamedThing lung superior sulcus carcinoma A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor. tmpte7i6ely_mondo_relaxed.owl superior sulcus lung carcinoma|superior sulcus carcinoma of lung|superior sulcus carcinoma of the lung UMLS:C1336529|DOID:8208|NCIT:C7779 owl:Class MONDO:0006883 biolink:NamedThing malignant superior sulcus neoplasm A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. tmpte7i6ely_mondo_relaxed.owl malignant Superior sulcus neoplasm|malignant Superior sulcus lung neoplasm|malignant Superior sulcus neoplasm of the lung|Pancoast's syndrome|superior pulmonary sulcus syndrome (disorder) [ambiguous]|Pancoast tumor|Pancoast's tumor|malignant Superior sulcus neoplasm of lung|pulmonary sulcus neoplasm, malignant|Pancoast's tumour|superior sulcus tumor|superior pulmonary sulcus syndrome|malignant pulmonary sulcus neoplasm|malignant Superior sulcus tumor of lung|malignant Superior sulcus lung tumor|malignant Superior sulcus tumor of the lung|malignant Superior sulcus tumor SCTID:254638002|UMLS:C0549471|DOID:8007|NCIT:C27710|NCIT:C7527|EFO:1001080 owl:Class MONDO:0010466 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 2 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. tmpte7i6ely_mondo_relaxed.owl multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability|multiple congenital anomalies-hypotonia-seizures syndrome 2|DEE20|MCAHS type 2|multiple congenital anomalies-hypotonia-seizures syndrome type 2|GPIBD4|epileptic encephalopathy, early infantile, 20|glycosylphosphatidylinositol biosynthesis defect 4|developmental and epileptic encephalopathy 20|MCAHS2 DOID:0080139|UMLS:C3275508|Orphanet:300496|GARD:0012777|ICD10:Q87.8|OMIM:300868 owl:Class HGNC:3048 biolink:NamedThing DSG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003672 biolink:NamedThing posterior myocardial infarction tmpte7i6ely_mondo_relaxed.owl true posterior myocardial infarction|true posterior wall infarction UMLS:C0264706|DOID:5847|SCTID:194802003 owl:Class MONDO:0012118 biolink:NamedThing COG7-CDG COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. tmpte7i6ely_mondo_relaxed.owl CDG syndrome type IIe|carbohydrate deficient glycoprotein syndrome type IIe|CDG-IIe|CDG2E|COG7-CDG|CDG IIe|congenital disorder of glycosylation type 2e|CDG 2E|congenital disorder of glycosylation, type IIe|COG7-CDG (CDG-IIe)|congenital disorder of glycosylation type IIe Orphanet:79333|SCTID:717773005|GARD:0009842|OMIM:608779|ICD10:E77.8|MESH:C535754 owl:Class MONDO:0001700 biolink:NamedThing megaloblastic anemia Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. tmpte7i6ely_mondo_relaxed.owl Grasbeck-Imerslund syndrome|RH-MGA1|megaloblastic anemia (disease)|MGA1 Norwegian type|recessive hereditary megaloblastic anemia 1|IGS|megaloblastic anemia megaloblastic anemia (disease) UMLS:C0002888|ICD10:D53.1|DOID:13382|NCIT:C34382|SCTID:53165003|OMIM:613839|OMIM:261100|ICD9:281.3|HP:0001889 owl:Class UBERON:0010221 biolink:NamedThing laryngeal associated mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020069 biolink:NamedThing chronic encephalitis Chronic form of encephalitis. tmpte7i6ely_mondo_relaxed.owl encephalitis, chronic UMLS:C0006109|Orphanet:98255 owl:Class HP:0002098 biolink:NamedThing Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. tmpte7i6ely_mondo_relaxed.owl Respiratory difficulties|Breathing difficulties|Labored breathing SNOMEDCT_US:230145002|UMLS:C0476273|SNOMEDCT_US:271825005|MSH:D004417|SNOMEDCT_US:267036007|UMLS:C0013404 HP:0002880 human_phenotype owl:Class HP:0002094 biolink:NamedThing Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. tmpte7i6ely_mondo_relaxed.owl Abnormal breathing|Difficulty breathing|Trouble breathing|Breathing difficulty|Panting|Dyspnoea|Difficult to breathe|Shortness of breath UMLS:C0013404|SNOMEDCT_US:230145002|MSH:D004417|SNOMEDCT_US:267036007 human_phenotype owl:Class MONDO:0011546 biolink:NamedThing heterotaxy, visceral, 2, autosomal tmpte7i6ely_mondo_relaxed.owl heterotaxy, visceral, 2, autosomal|HTX2|Htx|transposition of the great arteries, dextro-looped 2|DTGA2 OMIM:605376|UMLS:C1415817|Orphanet:450 owl:Class MONDO:0000153 biolink:NamedThing transposition of the great arteries A congenital cardiac defect in which two heart vessels are reversed (transposed). tmpte7i6ely_mondo_relaxed.owl great vessels transposition|complete transposition|transposition of the great vessels|transposition of great vessels|TGA|TGV ICD10:Q20.3|NCIT:C84742|Orphanet:216675|ICD10:Q20.5|MESH:D014188 owl:Class HGNC:26444 biolink:NamedThing UROC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010294 biolink:NamedThing scleral endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010291 biolink:NamedThing layer of sclera tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006512 biolink:NamedThing estrogen-receptor positive breast cancer A subtype of breast cancer that is estrogen-receptor positive tmpte7i6ely_mondo_relaxed.owl ER+ breast cancer|estrogen receptor positive breast cancer DOID:0060075|EFO:1000649 owl:Class GO:0045934 biolink:NamedThing negative regulation of nucleobase-containing compound metabolic process Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpte7i6ely_mondo_relaxed.owl downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class MONDO:0001089 biolink:NamedThing acute inferolateral myocardial infarction tmpte7i6ely_mondo_relaxed.owl acute inferolateral myocardial infarction|acute myocardial infarction of inferolateral wall ICD9:410.20|UMLS:C0340308|ICD9:410.21|ICD9:410.22|SCTID:65547006|DOID:10649 Editor note: TODO: positional superclass owl:Class UBERON:0002340 biolink:NamedThing epithelium of main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002197 biolink:NamedThing minor vestibular glands adenoma A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present. tmpte7i6ely_mondo_relaxed.owl minor vestibular gland adenoma|adenoma of minor vestibular glands UMLS:C1510791|DOID:2075|NCIT:C40301 owl:Class UBERON:0003587 biolink:NamedThing limb connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000843 biolink:NamedThing regulation of testosterone secretion Any process that modulates the frequency, rate or extent of testosterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:691 biolink:NamedThing PHOX2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009587 biolink:NamedThing mesoaxial hexadactyly and cardiac malformation tmpte7i6ely_mondo_relaxed.owl mesoaxial hexadactyly and cardiac malformation|Mexican Cardiomelic dysplasia OMIM:249670|MESH:C563087|UMLS:C0796057 owl:Class MONDO:0036915 biolink:NamedThing benign ovarian mucinous tumor A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma. tmpte7i6ely_mondo_relaxed.owl ovarian mucinous neoplasm, benign|benign ovarian mucinous tumor|benign ovarian mucinous neoplasm EFO:1000115|NCIT:C40039|UMLS:C1511100 owl:Class MONDO:0009791 biolink:NamedThing oral sensibility, disturbance of tmpte7i6ely_mondo_relaxed.owl impairment of oral perception|oral sensibility, disturbance of|disturbance of oral sensitivity OMIM:258800|GARD:0009476 https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception owl:Class MONDO:0001210 biolink:NamedThing enophthalmos Abnormal recession of the eyeball within the eye socket. tmpte7i6ely_mondo_relaxed.owl enophthalmos (disease)|enophthalmos enophthalmos (disease) ICD9:376.5|HP:0000490|SCTID:80093006|UMLS:C0014306|DOID:11175|ICD10:H05.4|ICD9:376.50|NCIT:C79552|MESH:D015841|ICD10:H05.40 owl:Class MONDO:0004751 biolink:NamedThing disease of orbital part of eye adnexa Diseases of the bony orbit and contents except the eyeball. tmpte7i6ely_mondo_relaxed.owl orbital disease ICD10:H05.9|ICD9:376.9|ICD10:H05|UMLS:C0029182|DOID:930|ICD9:376|MESH:D009916 Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa owl:Class MONDO:0010296 biolink:NamedThing immunodeficiency 61 tmpte7i6ely_mondo_relaxed.owl agammaglobulinemia X-linked type 2|XLA2|agammaglobulinemia, X-linked, type 2|AGMX2 GARD:0010007|UMLS:C1845903|MESH:C538057|Orphanet:47|OMIM:300310|Orphanet:229717 owl:Class MONDO:0015977 biolink:NamedThing agammaglobulinemia A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. tmpte7i6ely_mondo_relaxed.owl hypogammaglobulinemia|IGHM|mu heavy chain deficiency|Immunoglobulin Deficiency|antibody Deficiency|Gammaglobulin Deficiency|agammaglobulinemia ICD10:D80.1|OMIM:613506|MedDRA:10001471|OMIM:612692|OMIM:615214|Orphanet:183669|OMIM:613502|OMIM:613500|MESH:D000361|OMIMPS:601495|OMIM:613501|GARD:0007455|DOID:2583|NCIT:C26931|OMIM:601495|ICD9:279.00 owl:Class CL:0002177 biolink:NamedThing folliculostellate cell of pars distalis of adenohypophysis A supporting cell of the anterior pituitary gland involved in trophic and catabolic processes; expresses a broad spectrum of cytokeratins indicative of their epithelial nature. tmpte7i6ely_mondo_relaxed.owl folliculostellate cell of pars anterior of adenohypophysis FMA:83102 tmeehan 2010-08-25T03:10:10Z cell owl:Class MONDO:0009459 biolink:NamedThing channelopathy-associated congenital insensitivity to pain, autosomal recessive A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, type 2D|HSAN2D, AR|channelopathy-associated CIP|insensitivity to pain, channelopathy-associated|HSAN2D|indifference to pain, congenital, autosomal recessive|congenital analgesia, autosomal recessive|CIP|asymbolia for pain GARD:0012267|OMIM:243000|UMLS:C1855739|Orphanet:970|MESH:D009477|Orphanet:88642|ICD10:G60.8 owl:Class MONDO:0008070 biolink:NamedThing nemaline myopathy 3 An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy 3|nemaline myopathy 3, autosomal dominant or recessive|NEM3|nemaline myopathy 3, with intranuclear rods|myopathy, actin, congenital, with Excess of thin myofilaments|myopathy, actin, congenital, with cores|nemaline myopathy caused by mutation in ACTA1|ACTA1 nemaline myopathy|nemaline myopathy type 3 DOID:0110927|Orphanet:98904|UMLS:CN187050|Orphanet:607|MESH:C580202|OMIM:161800|NCIT:C129870|SCTID:702349003 owl:Class CHEBI:49475 biolink:NamedThing argon atom tmpte7i6ely_mondo_relaxed.owl 18Ar|argon|Ar owl:Class MONDO:0008647 biolink:NamedThing hypertrophic cardiomyopathy 1 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic subaortic stenosis, idiopathic|CMH1|cardiomyopathy, familial hypertrophic, type 1|hypertrophic cardiomyopathy caused by mutation in MYH7|asymmetric septal Hypertrophy|cardiomyopathy, familial hypertrophic, 1|ventricular Hypertrophy, hereditary|hypertrophic cardiomyopathy type 1|hypertrophic cardiomyopathy 1|cardiomyopathy, familial hypertrophic 1|MYH7 hypertrophic cardiomyopathy|Cmh DOID:0110307|OMIM:192600 owl:Class UBERON:0005472 biolink:NamedThing right vitelline vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6654 biolink:NamedThing LMX1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002468 biolink:NamedThing hyperimmunoglobulin syndrome tmpte7i6ely_mondo_relaxed.owl hyperimmunoglobulin syndrome NCIT:C27579|DOID:2959|UMLS:C1334069 owl:Class HGNC:25784 biolink:NamedThing DCAF17 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030915 biolink:NamedThing intellectual disability, autosomal recessive 61 An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13. tmpte7i6ely_mondo_relaxed.owl Alwadei syndrome|autosomal recessive intellectual disability 61|MRT61|autosomal recessive mental retardation 61|mental retardation, autosomal recessive 61|intellectual disability, autosomal recessive 61 DOID:0080239|OMIM:617773|UMLS:CN651335 owl:Class MONDO:0002687 biolink:NamedThing superior mesenteric artery syndrome Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment. tmpte7i6ely_mondo_relaxed.owl Wilkie syndrome|superior mesenteric artery syndromic disease|superior mesenteric artery syndrome|Cast syndrome|vascular compression of the duodenum|syndromic disease of superior mesenteric artery|Arteriomesenteric duodenal compression syndrome NCIT:C85175|GARD:0007712|DOID:3557|SCTID:197006009|MESH:D013478|EFO:1001201|UMLS:C0038828 https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome owl:Class MONDO:0003120 biolink:NamedThing mixed testicular germ cell cancer A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. tmpte7i6ely_mondo_relaxed.owl testicular mixed germ cell tumor|mixed germ cell tumor of testis|mixed germ cell tumor|testicular mixed germ cell neoplasm|mixed germ cell tumor of the testis|mixed testicular germ cell tumor|testis mixed germ cell tumor|testicular germ cell tumor (mixed)|mixed germ cell neoplasm of the testis|mixed germ cell neoplasm of testis DOID:4743|NCIT:C6347|ONCOTREE:MGCT|UMLS:C1336720 owl:Class MONDO:0018978 biolink:NamedThing IgG4-related mediastinitis tmpte7i6ely_mondo_relaxed.owl sclerosing mediastinitis|mediastinal fibrosis|fibrosing mediastinitis|idiopathic mediastinal fibrosis GARD:0008337|MedDRA:10027074|ICD10:J98.5|Orphanet:63999|MESH:C536136 owl:Class HGNC:257 biolink:NamedThing ADK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012787 biolink:NamedThing hereditary spastic paraplegia 39 This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting. tmpte7i6ely_mondo_relaxed.owl SPG39|NTE related motor neuron disorder|spastic paraplegia due to neuropathy target esterase mutation|spastic paraplegia 39|NTEMND|autosomal recessive spastic paraplegia 39|autosomal recessive spastic paraplegia type 39|hereditary spastic paraplegia type 39|spastic paraplegia due to NTE mutation|spastic paraplegia 39, autosomal recessive|NTE-related motor neuron disorder|PNPLA6 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in PNPLA6 MESH:C567433|OMIM:612020|Orphanet:139480|GARD:0004924|ICD10:G11.4|DOID:0110790|SCTID:719103009|UMLS:C2677586|UMLS:C4304963 owl:Class GO:0002824 biolink:NamedThing positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002292 biolink:NamedThing T cell differentiation involved in immune response The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells. tmpte7i6ely_mondo_relaxed.owl T-lymphocyte differentiation during immune response|T cell differentiation during immune response|T cell development involved in immune response|T-cell differentiation during immune response|T lymphocyte differentiation during immune response owl:Class GO:0002286 biolink:NamedThing T cell activation involved in immune response The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl T cell activation during immune response|T-lymphocyte activation during immune response|T lymphocyte activation during immune response|T-cell activation during immune response owl:Class GO:0002888 biolink:NamedThing positive regulation of myeloid leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl stimulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|upregulation of myeloid leukocyte mediated immunity owl:Class GO:1903316 biolink:NamedThing positive regulation of nitrogen cycle metabolic process Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process. tmpte7i6ely_mondo_relaxed.owl upregulation of nitrogen cycle metabolic process|up-regulation of nitrogen cycle metabolic process|activation of nitrogen cycle metabolic process|up regulation of nitrogen cycle metabolic process owl:Class MONDO:0026765 biolink:NamedThing congenital disorder of glycosylation, type IIr tmpte7i6ely_mondo_relaxed.owl CDG2R|CDG IIr|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr OMIM:301045 owl:Class MONDO:0012172 biolink:NamedThing mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. tmpte7i6ely_mondo_relaxed.owl mitochondrial trifunctional protein deficiency|trifunctional Protein deficiency|MTPD|trifunctional Protein deficiency with myopathy and neuropathy|TFPD|mitochondrial trifunctional PROTEIN deficiency|TFP deficiency Orphanet:746|ICD10:G71.3|NCIT:C98991|ICD9:277.85|MESH:C566945|DOID:0111277|GARD:0003684|OMIM:609015|SCTID:237999008 https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency owl:Class GO:0006163 biolink:NamedThing purine nucleotide metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleotide metabolism|purine metabolism|purine metabolic process owl:Class GO:0031325 biolink:NamedThing positive regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpte7i6ely_mondo_relaxed.owl stimulation of cellular metabolic process|upregulation of cellular metabolic process|up-regulation of cellular metabolic process|positive regulation of cellular metabolism|up regulation of cellular metabolic process|activation of cellular metabolic process owl:Class MONDO:0012006 biolink:NamedThing craniosynostosis with ocular abnormalities and hallucal defects tmpte7i6ely_mondo_relaxed.owl craniosynostosis with ocular abnormalities and hallucal defects OMIM:608279|MESH:C564263|UMLS:C1842316 owl:Class MONDO:0012249 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 2 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. tmpte7i6ely_mondo_relaxed.owl colon cancer, familial nonpolyposis, type 2|Hereditary non-polyposis colon cancer type 2|Hereditary nonpolyposis colorectal cancer type 2|familial non-polyposis colon cancer type 2|HNPCC2|colorectal cancer, hereditary nonpolyposis, type 2|Lynch 2 syndrome|COCA2 Orphanet:144|MESH:D055847|DOID:0070274|OMIM:609310 owl:Class MONDO:0018675 biolink:NamedThing IgG4-related ophthalmic disorder A IgG4-related disease that involves the eye. tmpte7i6ely_mondo_relaxed.owl eye IgG4-related disease|IgG4-related disease of eye UMLS:CN237741|Orphanet:449563|ICD10:H05.1 owl:Class MONDO:0015057 biolink:NamedThing renin-angiotensin-aldosterone system-blocker-induced angioedema Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpte7i6ely_mondo_relaxed.owl Raas-blocker-induced angioedema|RAE|renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema|susceptibility to angioedema induced by ace inhibitors|AEACEI|reactive angioendotheliomatosis|angioedema induced by ACE inhibitors, susceptibility to|Raas-blocker-induced angioneurotic edema ICD10:T78.3|GARD:0009445|SCTID:403607004|Orphanet:100057|MESH:C535293|UMLS:C1304495|OMIM:300909 Editor note: consider separate class for OMIM for predisposition https://github.com/monarch-initiative/mondo/issues/3945 owl:Class GO:1902667 biolink:NamedThing regulation of axon guidance Any process that modulates the frequency, rate or extent of axon guidance. tmpte7i6ely_mondo_relaxed.owl regulation of axon chemotaxis|regulation of axon pathfinding|regulation of axon growth cone guidance owl:Class GO:0051270 biolink:NamedThing regulation of cellular component movement Any process that modulates the frequency, rate or extent of the movement of a cellular component. tmpte7i6ely_mondo_relaxed.owl regulation of cell movement|regulation of cellular component motion owl:Class MONDO:0001482 biolink:NamedThing testicular leukemia A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 tmpte7i6ely_mondo_relaxed.owl testicular leukemia DOID:12286|NCIT:C9277|UMLS:C1336711 owl:Class MONDO:0009025 biolink:NamedThing apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. tmpte7i6ely_mondo_relaxed.owl Ame1|cortisol 11-beta-ketoreductase deficiency|cortisol 11-Beta-ketoreductase deficiency|AME|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|Ulick syndrome|apparent mineralocorticoid excess|apparent mineralocorticoid EXCESS|11-beta-hydroxysteroid dehydrogenase deficiency type 2|ape|AME 1 DOID:0090121|UMLS:C2936861|GARD:0000433|UMLS:C3887949|SCTID:703256004|MESH:C537422|Orphanet:320|UMLS:CN203981|ICD10:E26.1|OMIM:218030|NCIT:C131083 https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess owl:Class MONDO:0002090 biolink:NamedThing eccrine sweat gland neoplasm A neoplasm involving a eccrine sweat gland. tmpte7i6ely_mondo_relaxed.owl eccrine neoplasm of the skin|eccrine sweat gland tumor|tumor of eccrine sweat gland|eccrine neoplasm of skin|eccrine skin neoplasm|eccrine tumor|eccrine skin tumor|eccrine neoplasm|eccrine tumor of skin|eccrine sweat gland neoplasm (disease)|eccrine tumor of the skin|neoplasm of eccrine sweat gland DOID:173|NCIT:C6796|UMLS:C1333371 owl:Class UBERON:0001959 biolink:NamedThing white pulp of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:1000023 biolink:NamedThing spleen pulp tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003606 biolink:NamedThing limb long bone tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034764 biolink:NamedThing positive regulation of transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl up-regulation of transmembrane transport|up regulation of transmembrane transport|activation of transmembrane transport|upregulation of transmembrane transport|stimulation of transmembrane transport|positive regulation of membrane transport owl:Class MONDO:0024312 biolink:NamedThing cancer of short bone of upper limb tmpte7i6ely_mondo_relaxed.owl ICD10:C40.1 owl:Class HP:0010927 biolink:NamedThing Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. tmpte7i6ely_mondo_relaxed.owl Abnormality of divalent inorganic cation homeostasis UMLS:C4023648 peter 2011-01-06T07:47:18Z human_phenotype owl:Class MONDO:0005049 biolink:NamedThing intracranial hemorrhage Bleeding within the cranium. tmpte7i6ely_mondo_relaxed.owl NCIT:C50438|ICD9:432.9|EFO:0000551|UMLS:CN236663|MESH:D020300 Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207 owl:Class MONDO:0021017 biolink:NamedThing synaptopathy A disease caused by dysfunction of synapses. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007122 biolink:NamedThing anisocoria Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. tmpte7i6ely_mondo_relaxed.owl anisocoria (disease)|anisocoria anisocoria (disease) SCTID:13045009|OMIM:106240|HP:0009916|MESH:D015875|ICD9:379.41 owl:Class MONDO:0006581 biolink:NamedThing miliaria rubra Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). tmpte7i6ely_mondo_relaxed.owl prickly heat - miliaria|sudamina|miliaria crystallina UMLS:C0162423|EFO:1000735|ICD9:705.1|SCTID:44279002|DOID:11153|ICD10:L74.2|MESH:D008883|UMLS:C3241961|ICD10:L74.0 owl:Class MONDO:0006580 biolink:NamedThing miliaria A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. tmpte7i6ely_mondo_relaxed.owl prickly heat|heat rash MESH:D008883|Wikipedia:Miliaria|NCIT:C34820|UMLS:C0026113|SCTID:63951004|ICD10:L74.3|DOID:1382|EFO:1000734 owl:Class MONDO:0001352 biolink:NamedThing round ligament malignant neoplasm A malignant neoplasm involving the round ligament of uterus. tmpte7i6ely_mondo_relaxed.owl round ligament of uterus cancer|malignant neoplasm of round ligament of uterus|cancer of round ligament of uterus|malignant neoplasm of round ligament|malignant round ligament of uterus neoplasm UMLS:C0346867|ICD10:C57.2|DOID:11748|ICD9:183.5|SCTID:188204000 owl:Class MONDO:0009700 biolink:NamedThing Carey-Fineman-Ziter syndrome Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. tmpte7i6ely_mondo_relaxed.owl CFZS|CFZ syndrome|myopathy, congenital nonprogressive with Moebius and Robin sequences|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence|Moebius sequence, Robin complex, and hypotonia|myopathy-Moebius-Robin syndrome|Carey-Fineman-Ziter syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences|Carey Fineman Ziter syndrome DOID:0080194|SCTID:429753001|OMIM:254940|Orphanet:1358|MESH:C536102|ICD9:359.89|GARD:0003889|UMLS:C1850746|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome owl:Class MONDO:0012936 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl Clls5|leukemia, chronic lymphocytic, susceptibility to, 5|leukemia, chronic lymphocytic, susceptibility to, type 5 Orphanet:67038|OMIM:612559 owl:Class MONDO:0001756 biolink:NamedThing frontal sinus cancer A malignant neoplasm involving the frontal sinus. tmpte7i6ely_mondo_relaxed.owl malignant tumor of frontal sinus|cancer of frontal sinus|malignant frontal sinus neoplasm|malignant frontal sinus tumor|malignant neoplasm of the frontal sinus|malignant tumor of the frontal sinus|frontal sinus cancer|malignant neoplasm of frontal sinus UMLS:C0153478|SCTID:363427000|ICD10:C31.2|NCIT:C3542|ICD9:160.4|DOID:1360 owl:Class NCBITaxon:7952 biolink:NamedThing Cypriniformes tmpte7i6ely_mondo_relaxed.owl carps and others GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186627 biolink:NamedThing Cypriniphysae tmpte7i6ely_mondo_relaxed.owl Cypriniphysi GC_ID:1 ncbi_taxonomy owl:Class HGNC:28216 biolink:NamedThing COX14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022444 biolink:NamedThing amyloidosis bronchopulmonary Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses. tmpte7i6ely_mondo_relaxed.owl GARD:0001026 https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary owl:Class MONDO:0015099 biolink:NamedThing unilateral hemispheric polymicrogyria tmpte7i6ely_mondo_relaxed.owl Orphanet:101071|ICD10:Q04.3 owl:Class UBERON:0016611 biolink:NamedThing auditory hillocks, pharyngeal arch 1 derived tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000404 biolink:NamedThing stretch reflex "A muscle contraction in response to stretching within the muscle." [wikipedia:Stretch_reflex] tmpte7i6ely_mondo_relaxed.owl deep tendon reflex owl:Class MONDO:0044406 biolink:NamedThing arthrogryposis-ectodermal dysplasia-other anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Stoll-Alembik-Finck syndrome GARD:0005029|Orphanet:3200|OMIM:601701 owl:Class MONDO:0021681 biolink:NamedThing sexually transmitted disease A Disease due to or propagated by sexual contact. tmpte7i6ely_mondo_relaxed.owl diseases, venereal|venereal disease (VD)|sexually Transmitted disorder|VD|infections, sexually Transmitted|disease, venereal|STDs|STD|Transmitted infections, sexually|Transmitted infection, sexually|STIs|STI|sexually transmitted disease|venereal disease|disease, sexually Transmitted|venereal diseases|infection, sexually Transmitted|VD, venereal disease|sexually Transmitted infections|sexually Transmitted infection|diseases, sexually Transmitted|disease (VD), venereal ICD9:099.8|SCTID:8098009|NCIT:C3365|UMLS:C0036916|MESH:D012749|ICD9:099.9|ICD10:A50.A64 owl:Class MONDO:0007713 biolink:NamedThing clonic hemifacial spasm tmpte7i6ely_mondo_relaxed.owl hemifacial spasm|facial hemispasm|hemifacial spasm, familial|focal myoclonus of face UMLS:C3536936|MESH:C564198|OMIM:141405|UMLS:C1841639|Orphanet:221083|ICD10:G51.3 owl:Class MONDO:0002778 biolink:NamedThing epidural spinal canal meningioma A meningioma that arises in the epidural spinal canal space. tmpte7i6ely_mondo_relaxed.owl meningioma of epidural spinal canal|meningioma of the epidural spinal canal NCIT:C5310|UMLS:C1333417|DOID:3809 owl:Class MONDO:0024552 biolink:NamedThing linear skin defects with multiple congenital anomalies 1 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic 7|Midas syndrome|LSDMCA1|microphthalmia, dermal aplasia, and sclerocornea|HCCS microphthalmia with linear skin defects syndrome|microphthalmia with linear skin defects syndrome caused by mutation in HCCS|linear skin defects with multiple congenital anomalies 1|microphthalmia with linear skin defects Orphanet:2556|OMIM:309801 Editor note: this is in two OMIMPSs, see notes on parent owl:Class MONDO:0018097 biolink:NamedThing West syndrome West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. tmpte7i6ely_mondo_relaxed.owl X-linked infantile spasms|X-linked infantile spasm syndrome|infantile spasms|Infantile spasms syndrome|West's syndrome|intellectual disability-hypsarrhythmia syndrome|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG UMLS:C0037769|NCIT:C84788|ICD9:345.60|MedDRA:10021750|OMIM:617065|ICD9:348.89|OMIM:308350|GARD:0007887|OMIM:613477|ICD10:G40.4|OMIM:616341|SCTID:28055006|OMIM:615006|OMIM:300672|Orphanet:3451|OMIM:616139|OMIM:613722|DOID:0050562 Editor note: check placement of OMIM IDs and EIEE subtypes owl:Class MONDO:0006921 biolink:NamedThing Actinomycetales infectious disease Infections with bacteria of the order actinomycetales. tmpte7i6ely_mondo_relaxed.owl infections, actinomycete|actinomycetales infections|actinomycotic infectious disease|actinomycosis|actinomycetales infection|actinomycete infections|actinomycetales disease or disorder|infections, actinomycetales|infection, actinomycetales|actinomycotic infection|actinomycetales caused disease or disorder|infection, actinomycete|infection caused by actinomycetales|actinomycete infection ICD9:039.9|UMLS:C0001255|MESH:D000193|NCIT:C84534|SCTID:11817007|SCTID:721751007|EFO:1001122|ICD9:039.8 owl:Class UBERON:0004100 biolink:NamedThing renal collecting system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007492 biolink:NamedThing early-onset generalized limb-onset dystonia A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. tmpte7i6ely_mondo_relaxed.owl early onset torsion dystonia|torsion dystonia 1, autosomal dominant|Early-onset torsion dystonia|early-onset torsion dystonia|early-onset generalized torsion dystonia|early onset primary dystonia|DYT1|Primary torsion dystonia|torsion dystonia 1|DYT-TOR1A dystonia|early-onset primary dystonia|torsion dystonia type 1|Oppenheim's dystonia|DYT-TOR1A|early-onset generalized limb-onset dystonia|dystonia 1|dystonia musculorum deformans 1|idiopathic dystonia|dystonia musculorum deformans|Early-onset Primary dystonia|idiopathic torsion dystonia|Oppenheim dystonia|dystonia 1, torsion, autosomal dominant|dystonia 1, torsion, Autosomal dominant|EOTD|idiopathic dystonia DYT1|Dyt1 NCIT:C116718|DOID:0060730|OMIM:602554|ICD10:G24.1|MESH:C538005|Orphanet:256|OMIM:128100|UMLS:C3888090|GARD:0002027|UMLS:C0013423 MONDO:0023033 https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia owl:Class MONDO:0100016 biolink:NamedThing early-onset generalized dystonia tmpte7i6ely_mondo_relaxed.owl early-onset, generalized dystonia with mild syndromic features|DYT-KMT2B|early-onset generalized isolated dystonia|A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population. 2018-05-25 20:53:07+00:00 owl:Class HP:0001876 biolink:NamedThing Pancytopenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). tmpte7i6ely_mondo_relaxed.owl uk_spelling|Low blood cell count SNOMEDCT_US:127034005|UMLS:C0030312|MSH:D010198 human_phenotype owl:Class HP:0012145 biolink:NamedThing Abnormality of multiple cell lineages in the bone marrow tmpte7i6ely_mondo_relaxed.owl UMLS:C4023024 peter 2012-09-16T08:21:57Z human_phenotype owl:Class MONDO:0006887 biolink:NamedThing parametritis Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. tmpte7i6ely_mondo_relaxed.owl pelvic cellulitis|inflammation of parametrium|parametrium inflammation SCTID:280483007|DOID:1260|UMLS:C0030455|EFO:1001084|MESH:D010249 owl:Class MONDO:0002698 biolink:NamedThing testicular gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. tmpte7i6ely_mondo_relaxed.owl testicular gonadoblastoma|testis gonadoblastoma|testicular gonadoblastoma (disease)|gonadoblastoma of testis testicular gonadoblastoma (disease) DOID:3579|NCIT:C39911|UMLS:C1515283|HP:0000030 owl:Class HGNC:9483 biolink:NamedThing PRSS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001075 biolink:NamedThing steatorrhea A finding of an excessive amount of fat in the stool. tmpte7i6ely_mondo_relaxed.owl fatty stool|fatty stool (finding)|steatorrhea (disease)|steatorrhea steatorrhea (disease) MESH:D045602|DOID:10602|NCIT:C86917|SCTID:27868004|HP:0002570 owl:Class MONDO:0004066 biolink:NamedThing intermediate cell type ciliary body melanoma Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpte7i6ely_mondo_relaxed.owl Intermediate cell type ciliary body melanoma|ciliary body intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of ciliary body DOID:6997|UMLS:C1334209|NCIT:C6118 owl:Class UBERON:0001732 biolink:NamedThing pharyngeal tonsil tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019504 biolink:NamedThing superior limbic keratoconjunctivitis Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. tmpte7i6ely_mondo_relaxed.owl Theodore's superior limbic keratoconjunctivitis|SLK|Theodores syndrome|Theodores superior limbic keratoconjunctivitis|Theodore's syndrome Orphanet:88633|ICD9:370.49|ICD10:H16.2|UMLS:C0339229|SCTID:231903005|GARD:0010940 https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis owl:Class HGNC:11934 biolink:NamedThing TNFSF4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010441 biolink:NamedThing CK syndrome tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|CK syndrome|intellectual disability, X-linked, with thin body habitus and cortical malformation|mental retardation, X-linked, with thin body habitus and cortical malformation UMLS:C3151781|Orphanet:251383|OMIM:300831 owl:Class MONDO:0032716 biolink:NamedThing leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate tmpte7i6ely_mondo_relaxed.owl ARLIAK|LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE OMIM:618384 owl:Class MONDO:0020448 biolink:NamedThing right inferior vena cava connecting to left-sided atrium tmpte7i6ely_mondo_relaxed.owl right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium Orphanet:99119|ICD10:Q26.8 owl:Class HGNC:7661 biolink:NamedThing NCF2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0010021 biolink:NamedThing cardiac myoblast tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0002958 biolink:NamedThing signet ring basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl skin signet Ring cell basal cell carcinoma|signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma NCIT:C38110|UMLS:C1519320|DOID:4304 owl:Class MONDO:0005463 biolink:NamedThing aortic valve calcification Calcification of the aortic valve tmpte7i6ely_mondo_relaxed.owl aortic valve calcification|aortic valve calcification (disease) aortic valve calcification (disease) SCTID:250978003|HP:0004380|UMLS:C0428791|EFO:0005239 owl:Class OBO:CHR_9606-chr8q2 biolink:NamedThing 8q2 (Human) tmpte7i6ely_mondo_relaxed.owl 145138636 72000000 hg38 owl:Class GO:0045724 biolink:NamedThing positive regulation of cilium assembly Any process that activates or increases the frequency, rate or extent of the formation of a cilium. tmpte7i6ely_mondo_relaxed.owl up regulation of cilium assembly|upregulation of cilium assembly|up-regulation of cilium assembly|positive regulation of flagellum biogenesis|activation of cilium assembly|stimulation of cilium assembly|positive regulation of flagellum assembly owl:Class GO:1902017 biolink:NamedThing regulation of cilium assembly Any process that modulates the frequency, rate or extent of cilium assembly. tmpte7i6ely_mondo_relaxed.owl regulation of cilium biogenesis|regulation of ciliogenesis owl:Class MONDO:0003504 biolink:NamedThing anal canal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl neuroendocrine neoplasm of anus|anal neuroendocrine tumor|anal neuroendocrine neoplasm|anus neuroendocrine neoplasm|anal canal neuroendocrine neoplasm|anus neuroendocrine tumor|anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of anal canal|neuroendocrine tumor of anus|neuroendocrine neoplasm of the anus|anal canal NET|anal canal neuroendocrine tumor SCTID:717917007|NCIT:C5603|DOID:5545 owl:Class MONDO:0019255 biolink:NamedThing sphingolipidosis An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. tmpte7i6ely_mondo_relaxed.owl sphingolipidoses MESH:D013106|SCTID:238028008|ICD10:E75.2|UMLS:C0037899|ICD10:E75.1|GARD:0007672|SCTID:58459009|ICD10:E75.0|ICD10:E75.3|Orphanet:79225|DOID:1927|NCIT:C117254 https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis owl:Class MONDO:0003541 biolink:NamedThing adult acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during adulthood. tmpte7i6ely_mondo_relaxed.owl adult acute lymphoblastic leukemia|adult precursor lymphoblastic leukemia|adult acute lymphoid leukemia|adult ALL|acute lymphoblastic leukemia (ALL)|adult acute lymphogenous leukemia|adult acute lymphocytic leukemia DOID:5604|NCIT:C4967|UMLS:C0751606 owl:Class UBERON:0004675 biolink:NamedThing hypoglossal nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017275 biolink:NamedThing spastic paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia facial cutaneous lesions|Bahemuka-Brown syndrome|Bahemuka Brown syndrome MESH:C537797|SCTID:763403007|UMLS:C2931617|Orphanet:2819|GARD:0000806 owl:Class MONDO:0017802 biolink:NamedThing ovarian fibrothecoma A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). tmpte7i6ely_mondo_relaxed.owl UMLS:CN203762|Orphanet:314478|SCTID:765190005|ICD10:D27 owl:Class MONDO:0009246 biolink:NamedThing Friedreich ataxia and congenital glaucoma tmpte7i6ely_mondo_relaxed.owl Friedreich ataxia and congenital glaucoma OMIM:229310|UMLS:C1856688|MESH:C538061 owl:Class MONDO:0001276 biolink:NamedThing expressive language disorder A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). tmpte7i6ely_mondo_relaxed.owl expressive language disorder|developmental expressive language disorder ICD9:315.31|ICD10:F80.1|DOID:11385|SCTID:229733002|NCIT:C92562 owl:Class MONDO:0004750 biolink:NamedThing language disorder A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. tmpte7i6ely_mondo_relaxed.owl HP:0002463|EFO:0005425|MESH:D007806|ICD10:F80.9|NCIT:C97155|DOID:93 owl:Class MONDO:0015406 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 1 tmpte7i6ely_mondo_relaxed.owl CAMS1 Orphanet:141194|SCTID:703267003|ICD10:Q28.2|UMLS:CN199501|UMLS:C3840102 owl:Class MONDO:0015405 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. tmpte7i6ely_mondo_relaxed.owl CAMS SCTID:703266007|ICD10:Q28.2|UMLS:C3839265|Orphanet:141189|UMLS:CN199500 owl:Class HGNC:1530 biolink:NamedThing MICU1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000466 biolink:NamedThing chromaffin cell of right ovary A chromaffin cell that is part of the right ovary. tmpte7i6ely_mondo_relaxed.owl FMA:74320 cell owl:Class CL:0000095 biolink:NamedThing neuron associated cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0022603 biolink:NamedThing regulation of anatomical structure morphogenesis Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. tmpte7i6ely_mondo_relaxed.owl regulation of morphogenesis owl:Class MONDO:0015558 biolink:NamedThing isolated bone marrow mastocytosis tmpte7i6ely_mondo_relaxed.owl Orphanet:158778|ICD10:C96.2 owl:Class MONDO:0020331 biolink:NamedThing indolent systemic mastocytosis Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues. tmpte7i6ely_mondo_relaxed.owl indolent systemic mastocytosis (morphologic abnormality)|ism NCIT:C9286|ICDO:9741/1|DOID:4660|SCTID:70910003|UMLS:C0272203|ICD10:D47.0|ONCOTREE:ISM|Orphanet:98848|MedDRA:10056452 owl:Class UBERON:0011814 biolink:NamedThing non-neurogenic ectodermal placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007396 biolink:NamedThing dysostosis, Stanescu type Stanescu type dysostosis is a rare form of osteosclerosis. tmpte7i6ely_mondo_relaxed.owl osteosclerosis, Stanescu type|Stanescu osteosclerosis|autosomal dominant osteosclerosis, Stanescu type|craniofacial dysostosis with diaphyseal hyperplasia|craniofacial dysostosis-diaphyseal hyperplasia syndrome|dysostosis Stanescu type Orphanet:1798|MESH:C562974|OMIM:122900|ICD10:Q78.8|UMLS:C0432263|GARD:0002016|SCTID:254124008 owl:Class MONDO:0002933 biolink:NamedThing osteosclerosis Abnormally high bone density. tmpte7i6ely_mondo_relaxed.owl SCTID:49347007|NCIT:C41236|UMLS:C0029464|ICD10:Q78.2|MESH:D010026|DOID:4254 owl:Class MONDO:0012219 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type MESH:C563772|UMLS:C1836584|OMIM:609223 owl:Class HGNC:11896 biolink:NamedThing TNFAIP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004131 biolink:NamedThing anal verrucous carcinoma A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl anal Buschke-Lowenstein tumor|anal verrucous carcinoma|anal giant (malignant) condyloma NCIT:C7470|UMLS:C1332278|DOID:7175 owl:Class MONDO:0027026 biolink:NamedThing Buschke Lowenstein tumor A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region. tmpte7i6ely_mondo_relaxed.owl Giant condyloma Acuminatum|giant condyloma acuminatum involving the prepuce and glans penis|Giant condyloma Acuminatums|tumor, Buschke Lowenstein|tumor, Buschke-Lowenstein|condyloma Acuminatums, Giant|anogenital type verrucous carcinoma|Lowenstein tumor, Buschke|GCBL|Buschke Lowenstein tumor|Giant condyloma of Buschke and Lowenstein|Buschke-Lowenstein tumor|condyloma Acuminatum, Giant|giant condyloma of Buschke and Lowenstein UMLS:C0276264|NCIT:C6371|MESH:D062688|SCTID:402910001|GARD:0009663 owl:Class HP:0012758 biolink:NamedThing Neurodevelopmental delay tmpte7i6ely_mondo_relaxed.owl UMLS:C4022738 peter 2014-04-03T12:16:19Z human_phenotype owl:Class MONDO:0022034 biolink:NamedThing lentivirus infection Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. tmpte7i6ely_mondo_relaxed.owl Infection, Lentivirus|Lentivirus Infection|Lentivirus Infections|Disease caused by Lentivirus|Infections, Lentivirus|Disease due to Lentivirus EFO:1001357|UMLS:C0079680|MESH:D016180 owl:Class MONDO:0016727 biolink:NamedThing extraventricular neurocytoma Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. tmpte7i6ely_mondo_relaxed.owl extraventricular neurocytoma (WHO grade II)|EVN UMLS:CN201975|NCIT:C92555|Orphanet:251927|ICDO:9506/1|UMLS:C2985175|SCTID:716787002|ONCOTREE:EVN owl:Class MONDO:0016726 biolink:NamedThing neuronal tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:251924|UMLS:CN201974 owl:Class MONDO:0003273 biolink:NamedThing sternum cancer A malignant neoplasm involving the sternum tmpte7i6ely_mondo_relaxed.owl malignant tumor of sternum|malignant neoplasm of the sternum|malignant neoplasm of sternum|malignant sternal neoplasm|sternum cancer|neoplasm of sternum|malignant tumor of the sternum|malignant sternal tumor|cancer of sternum|malignant sternum neoplasm UMLS:C1290244|NCIT:C8408|NCIT:C6730|UMLS:C1382025|SCTID:126559003|DOID:5090 owl:Class MONDO:0018091 biolink:NamedThing microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl Viljoen-Kallis-Voges syndrome|microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability|microcephaly brachydactyly kyphoscoliosis|Viljoen Kallis Voges syndrome UMLS:C2931177|Orphanet:3433|GARD:0005490|ICD10:Q87.8|SCTID:719378009|MESH:C536349 https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome owl:Class HP:0008047 biolink:NamedThing Abnormality of the vasculature of the eye tmpte7i6ely_mondo_relaxed.owl Abnormality of eye blood vessels UMLS:C4024752 peter 2008-04-02T12:10:00Z human_phenotype owl:Class MONDO:0012360 biolink:NamedThing congenital nongoitrous hypothryoidism 3 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1. tmpte7i6ely_mondo_relaxed.owl congenital nongoitrous hypothyroidism 3|CHNG3|resistance to thyrotropin|thyrotropin resistance|hypothyroidism, congenital, nongoitrous, 3 UMLS:C2940785|ICD10:E03.1|Orphanet:97927|MESH:C567935|DOID:0070127|OMIM:609893 owl:Class MONDO:0019995 biolink:NamedThing peripheral resistance to thyroid hormones Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl UMLS:C4273673|Orphanet:97927|ICD10:E03.1|SCTID:718193005|GARD:0012734|OMIM:614450|UMLS:CN206931|OMIM:609893 https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones owl:Class NCBITaxon:84529 biolink:NamedThing Metagonimus yokogawai tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:1193293 ncbi_taxonomy owl:Class NCBITaxon:84527 biolink:NamedThing Metagonimus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:15964 biolink:NamedThing DAZ2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003284 biolink:NamedThing mesentery of midgut tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008959 biolink:NamedThing CHAND syndrome tmpte7i6ely_mondo_relaxed.owl curly hair-ankyloblepharon-nail dysplasia syndrome|CHAND syndrome|CHANDS UMLS:C0406733|Orphanet:1401|OMIM:214350|UMLS:CN199447|SCTID:239037001|MESH:C538074 owl:Class UBERON:0011877 biolink:NamedThing margin of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006800 biolink:NamedThing anatomical line tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10536 biolink:NamedThing SARDH tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004394 biolink:NamedThing Multiple gastric polyps tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:87252009|MSH:C562464|UMLS:C0236048|SNOMEDCT_US:78809005 peter 2008-03-18T09:11:00Z human_phenotype owl:Class HP:0006753 biolink:NamedThing Neoplasm of the stomach A tumor (abnormal growth of tissue) of the stomach. tmpte7i6ely_mondo_relaxed.owl Stomach tumour|Neoplasia of the stomach|Stomach tumor SNOMEDCT_US:126824007|UMLS:C4020813|UMLS:C0038356|NCIT:C3262|MSH:D013274 human_phenotype owl:Class MONDO:0007012 biolink:NamedThing variant Creutzfeldt-Jakob disease A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. tmpte7i6ely_mondo_relaxed.owl vCJD ICD10:A81.01|MedDRA:10064199|NCIT:C128438|ICD9:046.11|DOID:5435|NCIT:C26802|Orphanet:576370|MESH:D016643|UMLS:C0085209|GARD:0009550|EFO:1001233|SCTID:304603007 owl:Class MONDO:0018686 biolink:NamedThing acquired Creutzfeldt-Jakob disease An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired Creutzfeldt Jacob disease|acquired CJD|sporadic CJD OMIM:123400|Orphanet:454700|ICD10:A81.0|UMLS:CN237752|MESH:C538481 MONDO:0025169 owl:Class UBERON:0007914 biolink:NamedThing bone of craniocervical region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7421 biolink:NamedThing MT-CO2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009342 biolink:NamedThing Hirschsprung disease-hearing loss-polydactyly syndrome An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease with polydactyly, renal agenesis, and deafness|Hirschsprung disease, deafness and polydactyly|Santos Mateus Leal syndrome|Hirschsprung disease-deafness-polydactyly syndrome|Santos-Mateus-Leal syndrome|Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness GARD:0000157|SCTID:721221000|ICD10:Q43.1|MESH:C565518|Orphanet:2155|OMIM:235740 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0002903 biolink:NamedThing articulation disorder A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). tmpte7i6ely_mondo_relaxed.owl phonological disorder|articulation impairment MESH:D001184|DOID:4186|NCIT:C92564|SCTID:386701004|ICD9:315.39 owl:Class MONDO:0004730 biolink:NamedThing speech disorder A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. tmpte7i6ely_mondo_relaxed.owl speech impediment or impairment MESH:D013064|NCIT:C5041|ICD9:784.40|DOID:92|ICD9:784.49|UMLS:C0037822|SCTID:47004009 owl:Class GO:0033685 biolink:NamedThing negative regulation of luteinizing hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of luteinizing hormone. tmpte7i6ely_mondo_relaxed.owl down regulation of luteinizing hormone secretion|downregulation of luteinizing hormone secretion|down-regulation of luteinizing hormone secretion|inhibition of luteinizing hormone secretion owl:Class UBERON:0002119 biolink:NamedThing left ovary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011161 biolink:NamedThing sperm-specific antigen 1 tmpte7i6ely_mondo_relaxed.owl sperm-specific antigen type 1|sperm-specific antigen 1|SSFA1|fertilization antigen 1 OMIM:601876 owl:Class CHEBI:25703 biolink:NamedThing organic phosphate tmpte7i6ely_mondo_relaxed.owl organic phosphates|organic phosphate|organophosphate esters|organophosphate ester|organic phosphate ester|organic phosphate esters owl:Class CHEBI:25710 biolink:NamedThing organophosphorus compound An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters. tmpte7i6ely_mondo_relaxed.owl organophosphorus compound|organophosphorus compounds owl:Class ENVO:01001434 biolink:NamedThing anthropogenic ecosystem conversion process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:02500027 biolink:NamedThing anthropogenic environmental process An environmental process which is driven by the action of humans. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017639 biolink:NamedThing carbon monoxide-induced parkinsonism tmpte7i6ely_mondo_relaxed.owl CO-induced parkinsonism UMLS:C0393565|Orphanet:306686|ICD10:G21.2|SCTID:230293003 owl:Class UBERON:0012358 biolink:NamedThing manual digitopodium bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034142 biolink:NamedThing pancreatic agenesis-holoprosencephaly syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:556955 owl:Class MONDO:0013016 biolink:NamedThing leukocyte adhesion deficiency 3 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder. tmpte7i6ely_mondo_relaxed.owl lad-1 variant|integrin Activation deficiency disease|leukocyte adhesion deficiency type 3|leukocyte adhesion deficiency, type III|lad-III|LAD1V|leukocyte adhesion deficiency-1 variant|FERMT3 leukocyte adhesion deficiency|leukocyte adhesion deficiency caused by mutation in FERMT3|LAD3|leukocyte adhesion deficiency 3|leukocyte adhesion deficiency 1 variant|IADD|leukocyte adhesion deficiency, type 3|LAD1 variant|leukocyte adhesion deficiency type III|integrin activation deficiency disease Orphanet:99844|OMIM:612840|ICD10:D84.8|UMLS:C2748536|MESH:C567555|DOID:0110912|Orphanet:2968 owl:Class UBERON:0010345 biolink:NamedThing 4th arch mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001479 biolink:NamedThing sesamoid bone tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2731361 biolink:NamedThing Peploviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2731360 biolink:NamedThing Heunggongvirae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ECTO:9002131 biolink:NamedThing exposure to flame retardant An exposure to flame retardant. tmpte7i6ely_mondo_relaxed.owl exposure to flame retardant owl:Class MONDO:0001898 biolink:NamedThing optic choroid disorder A disease involving the optic choroid. tmpte7i6ely_mondo_relaxed.owl choroid disease|disease of optic choroid|disorder of optic choroid|disease or disorder of optic choroid|optic choroid disease|choroid disorder|optic choroid disease or disorder DOID:1417|NCIT:C34468|UMLS:C0008521|ICD9:363.8|SCTID:128468007|MESH:D015862|ICD10:H31.9|ICD9:363.9 owl:Class MONDO:0019230 biolink:NamedThing inborn disorder of ornithine or proline metabolism tmpte7i6ely_mondo_relaxed.owl disorder of ornithine or proline metabolism UMLS:CN227595|Orphanet:79185 owl:Class GO:0060285 biolink:NamedThing cilium-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpte7i6ely_mondo_relaxed.owl cilium cell motility|microtubule-based flagellar cell motility|ciliary cell motility owl:Class GO:0001539 biolink:NamedThing cilium or flagellum-dependent cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. tmpte7i6ely_mondo_relaxed.owl ciliary/flagellar motility|ciliary or bacterial-type flagellar motility owl:Class MONDO:0002146 biolink:NamedThing hypogonadism A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. tmpte7i6ely_mondo_relaxed.owl hypogonadotropism|gonadotropin deficiency UMLS:C0020619|MESH:D007006|DOID:1924|OMIM:241100|NCIT:C9227|SCTID:48130008|ICD9:253.4|OMIM:307300 owl:Class GO:0050433 biolink:NamedThing regulation of catecholamine secretion Any process that modulates the frequency, rate or extent of the regulated release of catecholamines. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010627 biolink:NamedThing X-linked lymphoproliferative syndrome X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). tmpte7i6ely_mondo_relaxed.owl XLP|SH2D1A-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative disease|X-linked lymphoproliferative syndrome|XLP1|Purtilo syndrome|Duncan disease|X-linked lymphoproliferative syndrome 1|lymphoproliferative syndrome, X-linked, type 1|lymphoproliferative syndrome, X-linked|lymphoproliferative syndrome, X-linked, 1|lymphoproliferative syndrome X-linked 1|X-linked lymphoproliferative syndrome type 1 MESH:D008232|UMLS:C0549463|Orphanet:2442|DOID:0060705|MedDRA:10068348|ICD9:238.79|NCIT:C61246|ICD10:D82.3|SCTID:77121009|GARD:0007906|OMIM:300635|OMIM:308240 Editor note: two OMIMPS https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 owl:Class MONDO:0016537 biolink:NamedThing lymphoproliferative syndrome A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). tmpte7i6ely_mondo_relaxed.owl lymphoproliferative disorder DOID:0060704|UMLS:CN201619|SCTID:277466009|MESH:D008232|OMIMPS:308240|Orphanet:238510|NCIT:C9308 owl:Class MONDO:0006850 biolink:NamedThing maxillary sinus neoplasm A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl tumor of the maxillary sinus|maxillary antrum neoplasm|maxillary sinus tumor|maxillary sinus neoplasm (disease)|tumor of maxillofacial sinus|tumor of maxillary antrum|maxillofacial sinus tumor|neoplasm of maxillofacial sinus|neoplasm of the maxillary sinus|tumor of the maxillary antrum|neoplasm of the maxillofacial sinus|maxillary sinus neoplasm|maxillary antrum tumor|neoplasm of maxillary sinus|maxillofacial sinus neoplasm|neoplasm of the maxillary antrum|neoplasm of maxillary antrum|tumor of the maxillofacial sinus|tumor of maxillary sinus DOID:1358|SCTID:126676009|MESH:D008444|MedDRA:10026130|EFO:1001035|NCIT:C3219|UMLS:C0024958 MONDO:0021213 owl:Class HGNC:5331 biolink:NamedThing NOD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005170 biolink:NamedThing myeloid neoplasm Proliferation of myeloid cells originating from a primitive stem cell. tmpte7i6ely_mondo_relaxed.owl myeloid tumor|myeloid malignancy|myeloid neoplasm ICDO:9975/1|UMLS:C2939461|EFO:0002427|ONCOTREE:MYELOID|NCIT:C9290|DOID:0070004 owl:Class MONDO:0001782 biolink:NamedThing mature cataract A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity. tmpte7i6ely_mondo_relaxed.owl total, mature senile cataract|total or mature cataract SCTID:849000|ICD9:366.17|DOID:13717 May be ceded to HPO. Note current classification may be incorrect owl:Class MONDO:0008936 biolink:NamedThing cerebellar ataxia and neurosensory deafness tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia and neurosensory deafness MESH:C565869|OMIM:212850|UMLS:C1859304 owl:Class MONDO:0010929 biolink:NamedThing craniosynostosis 4 Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene. tmpte7i6ely_mondo_relaxed.owl craniosynostosis 4|CRS4|craniosynostosis type 4|ERF-related craniosynostosis|craniosynostosis caused by mutation in ERF|ERF craniosynostosis OMIM:600775|UMLS:C3806917|Orphanet:35093|Orphanet:3267|Orphanet:2343 owl:Class MONDO:0017922 biolink:NamedThing deafness-onychodystrophy syndrome Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. tmpte7i6ely_mondo_relaxed.owl OMIM:220500|OMIM:124480|ICD10:Q87.8|UMLS:CN204041|Orphanet:3231 owl:Class MONDO:0032759 biolink:NamedThing intellectual developmental disorder with short stature and variable skeletal anomalies tmpte7i6ely_mondo_relaxed.owl IDDSSA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES OMIM:618453 owl:Class MONDO:0005316 biolink:NamedThing bacterial vaginosis Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. tmpte7i6ely_mondo_relaxed.owl BV NCIT:C116973|UMLS:C0085166|DOID:3385|SCTID:419760006|MESH:D016585|EFO:0003932 owl:Class MONDO:0060593 biolink:NamedThing actn3 deficiency tmpte7i6ely_mondo_relaxed.owl Alpha-actinin-3 deficiency|sprinting performance|ACTN3 deficiency 2022-04-01 OMIM:617749 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0030009 biolink:NamedThing alopecia-intellectual disability syndrome 4 tmpte7i6ely_mondo_relaxed.owl alopecia-intellectual disability syndrome 4|APMR4|ALOPECIA-MENTAL RETARDATION SYNDROME 4|alopecia-mental retardation syndrome 4 OMIM:618840 owl:Class MONDO:0007576 biolink:NamedThing esophageal cancer A primary or metastatic malignant neoplasm involving the esophagus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of lower third of oesophagus|malignant neoplasm of upper third esophagus|cancer of esophagus|esophageal cancer|malignant tumor of esophagus|esophageal squamous cell carcinoma, susceptibility to|malignant esophagus neoplasm|malignant tumor of the middle third of the esophagus|malignant neoplasm of esophagus|Ca middle third oesophagus|malignant tumor of distal third of esophagus|malignant neoplasm of proximal third of esophagus|malignant esophageal tumor|malignant tumor of the esophagus|malignant neoplasm of the esophagus|Aerodigestive tract cancer, susceptibility to|Ca lower third oesophagus|Escc, susceptibility to|malignant esophageal neoplasm|malignant tumor of proximal third of esophagus|esophagus cancer|malignant neoplasm of middle third of oesophagus|malignant neoplasm of distal third of esophagus|malignant tumor of abdominal esophagus|malignant esophagus tumor|gastric cardia adenocarcinoma, susceptibility to ICD9:150.3|ICD9:150.4|ICD9:150.5|UMLS:C0546837|NCIT:C7478|ICD10:C15.3|ICD9:150.2|DOID:5041|SCTID:363402007|GARD:0006383|OMIM:133239|ICD9:150.9|UMLS:C0014859|UMLS:C0152018|Orphanet:70482|SCTID:126817006|Orphanet:99977|ICD10:C15.4|ICD10:C15.5|ICD9:150.8|NCIT:C3028 owl:Class UBERON:0011134 biolink:NamedThing nonsynovial joint tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010464 biolink:NamedThing regulation of mesenchymal cell proliferation Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002555 biolink:NamedThing trigeminal schwannoma A schwannoma that involves the trigeminal nerve. tmpte7i6ely_mondo_relaxed.owl neurilemmoma of fifth cranial nerve|trigeminal nerve schwannoma|schwannoma of fifth cranial nerve|neurilemmoma of the fifth cranial nerve|schwannoma of trigeminal nerve|trigeminal schwannoma|trigeminal neurilemmoma|schwannoma of the fifth cranial nerve|schwannoma of the trigeminal nerve|neurilemmoma of trigeminal nerve|fifth cranial nerve neurilemmoma|neurilemmoma of the trigeminal nerve|fifth cranial nerve schwannoma SCTID:277185000|UMLS:C0349582|ICD9:215.9|NCIT:C4655|DOID:3202 owl:Class MONDO:0034054 biolink:NamedThing severe combined immunodeficiency due to CD70 deficiency tmpte7i6ely_mondo_relaxed.owl OMIM:618261|Orphanet:538958 owl:Class MONDO:0015974 biolink:NamedThing severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. tmpte7i6ely_mondo_relaxed.owl SCID|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency disease|severe combined immunodeficiency (disease)|severe combined immunodeficiency severe combined immunodeficiency (disease) UMLS:C0085110|ICD10:D81.9|ICD10:D81.1|GARD:0007628|ICD10:D81.3|NCIT:C3472|ICD10:D81.0|MedDRA:10069566|Orphanet:183660|ICD10:D81.2|MESH:D016511|DOID:627|HP:0004430|SCTID:31323000 owl:Class MONDO:0003757 biolink:NamedThing paraplegia Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. tmpte7i6ely_mondo_relaxed.owl severe or complete loss of motor function in the lower extremities and lower portions of the trunk|paraplegia, lower GARD:0007327|MESH:D010264|ICD10:G82.20|ICD10:G82.2|ICD9:344.1|SCTID:60389000|NCIT:C50687|UMLS:C0030486|DOID:607 https://rarediseases.info.nih.gov/diseases/7327/paraplegia owl:Class MONDO:0006420 biolink:NamedThing small intestinal mucosa-associated lymphoid tissue lymphoma A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine. tmpte7i6ely_mondo_relaxed.owl mucosa-associated lymphoid tissue lymphoma of the small intestine|MALT lymphoma of the small bowel|small bowel MALToma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALT lymphoma of the small intestine|small intestine MALToma|small bowel mucosa-associated lymphoid tissue lymphoma|MALT lymphoma of small intestine|MALT lymphoma of small bowel|small intestine mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of small intestine|small intestinal mucosa-associated lymphoid tissue lymphoma|small intestine MALT lymphoma|MALToma of small bowel|MALToma of small intestine|MALToma of the small intestine|small bowel MALT lymphoma|MALToma of the small bowel|mucosa-associated lymphoid tissue lymphoma of small bowel UMLS:C1336004|NCIT:C5635|EFO:1000537 owl:Class MONDO:0001852 biolink:NamedThing small intestine lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestine lymphoma|lymphoma of the small bowel|lymphoma of small bowel|lymphoma of small intestine|small bowel lymphoma|small intestinal lymphoma|primary small intestinal lymphoma|lymphoma of the small intestine SCTID:449074003|ICD9:202.80|NCIT:C4007|UMLS:C0278805|DOID:13996 owl:Class MONDO:0015278 biolink:NamedThing familial pancreatic carcinoma Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. tmpte7i6ely_mondo_relaxed.owl familial pancreatic carcinoma|hereditary exocrine pancreatic carcinoma|pancreatic acinar carcinoma|hereditary pancreatic cancer|familial pancreatic cancer|hereditary pancreatic carcinoma Orphanet:1333|ICD10:C25|UMLS:C2931038|UMLS:C0235974|MESH:C535837|SCTID:715414009|OMIM:606856|OMIM:613348|NCIT:C43298|OMIM:260350|GARD:0004206|OMIM:614320|OMIM:613347 owl:Class MONDO:0009796 biolink:NamedThing ornithine aminotransferase deficiency A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract. tmpte7i6ely_mondo_relaxed.owl OKT deficiency|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|Oat deficiency|Okt deficiency|Fuchs gyrate atrophy of the choroid and retina|ornithine Keto acid aminotransferase deficiency|ornithine-Delta-aminotransferase deficiency|OAT deficiency|hoga|Fuchs atrophia gyrata chorioideae et retinae|gyrate atrophy of choroid and retina|gyrate atrophy of the retina|Ornithinemia with gyrate atrophy|GACR|ornithine aminotransferase deficiency|hyperornithinemia|hyperornithinemia with gyrate atrophy of choroid and retina|ornithine ketoacid aminotransferase deficiency|Fuchs gyrate atrophy|gyrate atrophy|gyrate atrophy of the choroid and/or retina|Girate atrophy of the retina|Ornithinemia UMLS:C0018425|MESH:D015799|ICD10:E72.4|MESH:C538071|GARD:0006556|OMIM:258870|NCIT:C84744|GARD:0007272|Orphanet:414|DOID:1415 https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina owl:Class MONDO:0017504 biolink:NamedThing apodia, unilateral tmpte7i6ely_mondo_relaxed.owl congenital absence of foot, unilateral Orphanet:295105|ICD10:Q72.3 owl:Class MONDO:0017446 biolink:NamedThing apodia tmpte7i6ely_mondo_relaxed.owl congenital absence of foot Orphanet:294986|ICD10:Q72.3|SCTID:371197005 owl:Class UBERON:0008000 biolink:NamedThing sesamoid bone of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005899 biolink:NamedThing pes bone tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097384 biolink:NamedThing cellular lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular lipid anabolism|cellular lipid biosynthesis|cellular lipid formation|cellular lipid synthesis owl:Class MONDO:0009841 biolink:NamedThing PEHO syndrome PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. tmpte7i6ely_mondo_relaxed.owl peho syndrome|progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|infantile Cerebellooptic atrophy|peho-like syndrome|peho MESH:C536317|Orphanet:2836|Orphanet:99807|ICD10:G31.8|OMIM:260565|UMLS:C1850055|GARD:0004264|DOID:0080539 https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome owl:Class UBERON:0010227 biolink:NamedThing future cardiac atrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100056 biolink:NamedThing exercise-induced anaphylaxis A rare disorder in which anaphylaxis occurs in association with physical activity. tmpte7i6ely_mondo_relaxed.owl EIAn 2018-08-15 17:51:10+00:00 https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis owl:Class MONDO:0006881 biolink:NamedThing orbital cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. tmpte7i6ely_mondo_relaxed.owl orbital cellulitis NCIT:C99000|SCTID:194005002|DOID:11234|MESH:D054517|UMLS:C0149507|MedDRA:10031036|ICD10:H05.01|ICD9:376.01|EFO:1001076 owl:Class MONDO:0005230 biolink:NamedThing cellulitis Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. tmpte7i6ely_mondo_relaxed.owl cellulitis (disease)|cellulitis cellulitis (disease) ICD9:682.8|DOID:3488|HP:0100658|ICD10:L03.90|ICD9:682.9|NCIT:C26715|SCTID:128045006|Wikipedia:Cellulitis|EFO:0003035|MESH:D002481 owl:Class CHEBI:23123 biolink:NamedThing chloroacetate A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid. tmpte7i6ely_mondo_relaxed.owl monochloroacetate anion|chloroacetate|mono-chloroacetate|monochloroacetic acid anion|Chloroacetic acid ion(1-)|chloroacetate(1-)|chloroacetate anion owl:Class CHEBI:85638 biolink:NamedThing haloacetate(1-) A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid. tmpte7i6ely_mondo_relaxed.owl haloacetate (1-)|a haloacetate owl:Class MONDO:0014552 biolink:NamedThing lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. tmpte7i6ely_mondo_relaxed.owl MKS12|Meckel syndrome 12|Meckel syndrome type 12 Orphanet:439897|OMIM:616258|UMLS:C4015701 owl:Class UBERON:0009602 biolink:NamedThing left lung associated mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019917 biolink:NamedThing maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy of chromosome type 20|maternal UPD(20)|UPD(20)mat|MULCHANDANI-BHOJ-CONLIN syndrome|uniparental disomy, maternal, chromosome 20|MBCS SCTID:715735007|OMIM:617352|Orphanet:96186|DOID:0111714|ICD10:Q99.8 owl:Class MONDO:0009146 biolink:NamedThing ectodermal dysplasia-sensorineural deafness syndrome Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia-sensorineural hearing loss syndrome|hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|ectodermal dysplasia and neurosensory deafness|Mikaelian syndrome|congenital ectodermal dysplasia with hearing loss OMIM:224800|MESH:C535757|UMLS:C1857068|Orphanet:1883|GARD:0009723|MESH:C565606 https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss owl:Class MONDO:0013064 biolink:NamedThing multiple synostoses syndrome 3 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. tmpte7i6ely_mondo_relaxed.owl multiple synostoses syndrome 3|multiple synostoses syndrome caused by mutation in FGF9|multiple synostoses syndrome type 3|FGF9 multiple synostoses syndrome|SYNS3 MESH:C567839|Orphanet:3237|UMLS:C2751826|OMIM:612961 owl:Class MONDO:0017923 biolink:NamedThing multiple synostoses syndrome Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. tmpte7i6ely_mondo_relaxed.owl symphalangism-brachydactyly syndrome|facio-audio-symphalangism|WL syndrome|deafness-Hermann type symphalangism syndrome UMLS:C0342282|Orphanet:3237|ICD10:Q78.8|DOID:0050794|OMIM:186500|OMIMPS:186500|UMLS:CN204052|OMIM:612961|OMIM:610017 owl:Class MONDO:0008084 biolink:NamedThing neuropathy, congenital, with arthrogryposis multiplex tmpte7i6ely_mondo_relaxed.owl congenital non-progressive peripheral neuropathy with arthrogryposis multiplex|neuropathy, congenital, with arthrogryposis multiplex GARD:0010086|OMIM:162370|UMLS:C1834206|MESH:C535714 https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex owl:Class MONDO:0021229 biolink:NamedThing ciliary body neoplasm A neoplasm (disease) that involves the ciliary body. tmpte7i6ely_mondo_relaxed.owl tumor of the ciliary body|ciliary body tumor|neoplasm of ciliary body|ciliary body neoplasm (disease)|neoplasm of the ciliary body|tumor of ciliary body UMLS:C0339349|NCIT:C4364 owl:Class GO:2000470 biolink:NamedThing positive regulation of peroxidase activity Any process that activates or increases the frequency, rate or extent of peroxidase activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of donor:hydrogen-peroxide oxidoreductase activity|positive regulation of oxyperoxidase activity|positive regulation of peroxidase reaction owl:Class MONDO:0013144 biolink:NamedThing hereditary antithrombin deficiency A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). tmpte7i6ely_mondo_relaxed.owl antithrombin III deficiency|inherited antithrombin deficiency|thrombophilia due to antithrombin 3 deficiency|congenital antithrombin III deficiency|thrombophilia due to antithrombin III deficiency|AT3D|hereditary antithrombin deficiency|antithrombin 3 deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|congenital AT-III deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|AT III deficiency SCTID:36351005|Orphanet:82|ICD10:D68.59|ICD10:D68.5|DOID:3755|GARD:0006148|ICD9:286.9|MESH:D020152|NCIT:C98815|OMIM:613118|UMLS:C0272375 owl:Class CL:0000213 biolink:NamedThing lining cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. tmpte7i6ely_mondo_relaxed.owl boundary cell cell owl:Class MONDO:0001211 biolink:NamedThing total internal ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl UMLS:C0152197|SCTID:86266009|DOID:11177|ICD9:367.52 owl:Class MONDO:0001976 biolink:NamedThing chorea gravidarum A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) tmpte7i6ely_mondo_relaxed.owl MESH:D020150|EFO:1001290|ICD9:646.80|DOID:14483|UMLS:C0264746|SCTID:25113000 owl:Class MONDO:0001595 biolink:NamedThing choreatic disease A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. tmpte7i6ely_mondo_relaxed.owl hereditary chorea|Bch|hereditary progressive chorea without dementia|BHC|hereditary benign chorea|benign familial chorea|chorea, benign hereditary OMIM:118700|UMLS:C1859098|OMIM:215450|ICD10:G25.5|Orphanet:1429|DOID:12859|HP:0002072|SCTID:230306001|NCIT:C84633|MESH:D002819|SCTID:230298007|ICD9:333.5|EFO:0004152 owl:Class GO:0051223 biolink:NamedThing regulation of protein transport Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002222 biolink:NamedThing urethra leiomyoma A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl urethral leiomyoma|leiomyoma of urethra|leiomyoma of the urethra|urethra leiomyoma NCIT:C6171|UMLS:C1336888|DOID:2142 owl:Class CL:0002616 biolink:NamedThing perirenal adipocyte cell A fat cell of perirenal fat tissue. tmpte7i6ely_mondo_relaxed.owl perirenal fat cell tmeehan 2011-03-14T10:17:05Z cell owl:Class GO:0003020 biolink:NamedThing detection of reduced oxygen by chemoreceptor signaling The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies. tmpte7i6ely_mondo_relaxed.owl detection of reduced oxygen by chemoreceptor signalling owl:Class GO:0070483 biolink:NamedThing detection of hypoxia The series of events in which a stimulus indicating lowered oxygen tension is received by a cell and converted into a molecular signal. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. tmpte7i6ely_mondo_relaxed.owl detection of reduced oxygen levels owl:Class MONDO:0006367 biolink:NamedThing pharyngeal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the pharynx. tmpte7i6ely_mondo_relaxed.owl pharyngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the pharynx|pharyngeal adenoid cystic carcinoma|adenoid cystic carcinoma of pharynx|pharynx adenoid cystic carcinoma UMLS:C1335399|NCIT:C5818|EFO:1000472 owl:Class MONDO:0100185 biolink:NamedThing immune reconstitution inflammatory syndrome An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens. tmpte7i6ely_mondo_relaxed.owl IRS|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma|IRIS|immune reconstitution syndrome|IRD|immune restoration disease http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000094 biolink:NamedThing granulocyte A leukocyte with abundant granules in the cytoplasm. tmpte7i6ely_mondo_relaxed.owl polymorphonuclear leukocyte|granular leukocyte|granular leucocyte FMA:62854|CALOHA:TS-0422|BTO:0000539|BTO:0001026 cell owl:Class GO:0016321 biolink:NamedThing female meiosis chromosome segregation The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098813 biolink:NamedThing nuclear chromosome segregation The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011971 biolink:NamedThing hyper-IgM syndrome type 5 Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. tmpte7i6ely_mondo_relaxed.owl hyper IgM syndrome 5|HIGM5|hyper-IgM syndrome caused by mutation in UNG|hyper-IgM syndrome type 5|immunodeficiency with hyper IgM type 5|hyper-IgM syndrome 5|hyper-IgM syndrome due to uracil N-glycosylase|hyper-IgM syndrome due to UNG deficiency|immunodeficiency with hyper-IgM, type 5|UNG hyper-IgM syndrome OMIM:608106|DOID:0060759|Orphanet:183666|Orphanet:101092|ICD10:D80.5|GARD:0010581 https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5 owl:Class MONDO:0011110 biolink:NamedThing dyssegmental dysplasia-glaucoma syndrome This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. tmpte7i6ely_mondo_relaxed.owl dyssegmental dysplasia with glaucoma|dyssegmental dysplasia and glaucoma MESH:C563290|UMLS:C1832111|OMIM:601561|Orphanet:1804|GARD:0002025 https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma owl:Class MONDO:0005191 biolink:NamedThing metastatic melanoma A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. tmpte7i6ely_mondo_relaxed.owl metastatic melanoma|metastatic malignant melanoma NCIT:C8925|EFO:0002617|UMLS:C0278883|SCTID:443493003 owl:Class MONDO:0003292 biolink:NamedThing anus leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl anus leiomyoma|leiomyoma of anus|anal leiomyoma|leiomyoma of the anus NCIT:C5608|DOID:5134|UMLS:C1332266 owl:Class MONDO:0004125 biolink:NamedThing rectum leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl rectum leiomyoma|rectal leiomyoma|leiomyoma of the rectum|leiomyoma of rectum NCIT:C5552|UMLS:C1335682|DOID:7160 owl:Class MONDO:0021723 biolink:NamedThing vaginismus Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection. tmpte7i6ely_mondo_relaxed.owl vaginismus|myalgia of pelvic floor UMLS:C2004487|MESH:D052065|ICD10:N94.2|NCIT:C78703 owl:Class GO:0050871 biolink:NamedThing positive regulation of B cell activation Any process that activates or increases the frequency, rate or extent of B cell activation. tmpte7i6ely_mondo_relaxed.owl up regulation of B cell activation|upregulation of B cell activation|activation of B cell activation|positive regulation of B lymphocyte activation|up-regulation of B cell activation|positive regulation of B-cell activation|positive regulation of B-lymphocyte activation|stimulation of B cell activation owl:Class MONDO:0008719 biolink:NamedThing acrorenal syndrome, autosomal recessive Autosomal recessive form of acrorenal syndrome. tmpte7i6ely_mondo_relaxed.owl autosomal recessive acrorenal syndrome|Curran syndrome|acrorenal syndrome, autosomal recessive|acrorenal syndrome autosomal recessive|acrorenal syndrome recessive Orphanet:971|OMIM:201310|GARD:0000514|UMLS:C0796290|MESH:C535666 owl:Class MONDO:0002163 biolink:NamedThing thymus lipoma A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion. tmpte7i6ely_mondo_relaxed.owl Thymolipomatous hamartoma|Thymolipoma|thymus lipoma|lipoma of thymus UMLS:C1336744|NCIT:C6452|DOID:1975 owl:Class MONDO:0021512 biolink:NamedThing benign neoplasm of thymus A benign neoplasm that involves the thymus. tmpte7i6ely_mondo_relaxed.owl benign thymic tumor|benign Thymus neoplasm|thymus benign neoplasm|benign Thymus tumor|benign neoplasm of the Thymus|benign thymic neoplasm|benign tumor of the Thymus|benign tumor of Thymus UMLS:C0345975|ICD10:D15.0|SCTID:92437008|ICD9:212.6|NCIT:C4458 owl:Class MONDO:0003350 biolink:NamedThing granular cell leiomyosarcoma An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes. tmpte7i6ely_mondo_relaxed.owl granular cell leiomyosarcoma NCIT:C27494|DOID:5258|UMLS:C1333871 owl:Class MONDO:0009490 biolink:NamedThing Papillon-Lefevre disease Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. tmpte7i6ely_mondo_relaxed.owl PLS|Papillon Lefevre syndrome|PAPILLON-Lefevre syndrome|keratosis palmoplantaris with periodontopathia|hyperkeratosis palmoplantaris with periodontosis|Papillon-LEFèvre syndrome|palmoplantar keratoderma with periodontosis|keratosis palmoplantar-periodontopathy syndrome|keratosis palmoplantar - periodontopathy|Keratoris palmoplantaris with periodontopathia|Papillon-Lefvre syndrome|palmar-plantar hyperkeratosis and concomitant periodontal destruction|PALS|Pls SCTID:40158001|Orphanet:678|UMLS:C0030360|ICD9:759.89|NCIT:C84992|DOID:3389|GARD:0003100|OMIM:245000|ICD10:Q82.8|MESH:D010214 owl:Class MONDO:0017739 biolink:NamedThing disorder of lysosomal-related organelles tmpte7i6ely_mondo_relaxed.owl UMLS:CN227186|Orphanet:309340 owl:Class MONDO:0025066 biolink:NamedThing epidermitis, exudative, of swine An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed) tmpte7i6ely_mondo_relaxed.owl swine exudative Dermatitides|exudative dermatitis of swine|swine exudative dermatitis|greasy pig disease|disease, greasy pig|Epidermitis, exudative of swine MESH:D004818|UMLS:C0014521 owl:Class HGNC:23213 biolink:NamedThing PIGW tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001640 biolink:NamedThing celiac artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012254 biolink:NamedThing abdominal aorta artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022519 biolink:NamedThing autoimmune myocarditis Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. tmpte7i6ely_mondo_relaxed.owl GARD:0009519 owl:Class PO:0009085 biolink:NamedThing exocarp A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084). tmpte7i6ely_mondo_relaxed.owl flavedo (exact)|portion of exocarp tissue (exact)|ectocarp (exact)|epicarp (exact)|外果皮 (Japanese, exact)|pericarp epidermis (related)|fruit epidermis (exact)|exocarpo (Spanish, exact)|outer epidermis of pericarp (related) PO_GIT:511|PO_GIT:149 PO:0006046|PO:0006217 plant_anatomy owl:Class MONDO:0004014 biolink:NamedThing ethmoid sinus ectopic meningioma An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. tmpte7i6ely_mondo_relaxed.owl ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of the ethmoidal sinus|primary ectopic meningioma of ethmoid sinus|primary ectopic meningioma of ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of the ethmoid sinus UMLS:C1333475|NCIT:C5309|DOID:6854 owl:Class HGNC:8864 biolink:NamedThing CFP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045785 biolink:NamedThing positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion. tmpte7i6ely_mondo_relaxed.owl upregulation of cell adhesion|up regulation of cell adhesion|up-regulation of cell adhesion|stimulation of cell adhesion|activation of cell adhesion owl:Class MONDO:0010836 biolink:NamedThing nanophthalmos 1 tmpte7i6ely_mondo_relaxed.owl Nanophthalmia 1|NNO1|nanophthalmos 1|nanophthalmos, autosomal dominant|nanophthalmos with high hyperopia and angle-closure glaucoma|microphthalmos, simple, autosomal dominant Orphanet:35612|UMLS:C1838502|OMIM:600165|MESH:C563983 owl:Class MONDO:0002707 biolink:NamedThing breast mucinous carcinoma An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis. tmpte7i6ely_mondo_relaxed.owl infiltrating mucinous breast carcinoma|colloid carcinoma of breast|invasive mucinous breast carcinoma|mucinous carcinoma of breast|colloid breast carcinoma|breast mucinous carcinoma|mucinous breast carcinoma|breast invasive mixed mucinous carcinoma|mucinous carcinoma of the breast|invasive colloid breast carcinoma|mucinous breast cancer|colloid carcinoma of the breast|infiltrating colloid breast carcinoma UMLS:C1334807|ONCOTREE:IMMC|NCIT:C9131|DOID:3610|SCTID:444712000 owl:Class MONDO:0002866 biolink:NamedThing duodenal disorder Pathological conditions in the duodenum region of the small intestine (intestine, small). tmpte7i6ely_mondo_relaxed.owl duodenum disease|disorder of duodenum|disease of duodenum|duodenum disorder|disease or disorder of duodenum|duodenum disease or disorder ICD9:537.9|ICD9:537.89|MESH:D004378|UMLS:C0013289|SCTID:52182008|DOID:4072 owl:Class HGNC:11822 biolink:NamedThing TIMP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008292 biolink:NamedThing punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed. tmpte7i6ely_mondo_relaxed.owl punctate palmoplantar keratoderma type II|palmoplantar keratoderma, punctate type II|porokeratosis punctata palmaris Et plantaris|keratoderma palmoplantar, punctate type 2|PPPP|punctate palmoplantar hyperkeratosis type 2|PPKP2|type 2 punctate PPK Orphanet:79502|DOID:0080213|ICD10:Q82.8|SCTID:765096001|GARD:0004439|UMLS:C1867982|OMIM:175860 owl:Class HGNC:7315 biolink:NamedThing MS4A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002484 biolink:NamedThing epithelial melanocyte A melanocyte that produces pigment in the epithelium. tmpte7i6ely_mondo_relaxed.owl The text defintion reference to the MP term appears to reference an epidermal melanocyte term. This term represents any melanocyte in any epithelium. tmeehan 2010-12-03T03:17:14Z cell owl:Class MONDO:0016558 biolink:NamedThing familial congenital mirror movements Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. tmpte7i6ely_mondo_relaxed.owl isolated congenital controlateral synkinesia|bimanual synkinesis|hereditary congenital mirror movements|isolated congenital mirror movements|CMM|hereditary congenital controlateral synkinesia|congenital mirror movements|familial congenital controlateral synkinesia|familial congenital mirror movements|congenital mirror movement disorder Orphanet:238722|GARD:0012551|OMIM:157600|DOID:0111153|SCTID:229247004|OMIMPS:157600|OMIM:614508|OMIM:616059 MONDO:0000140 owl:Class MONDO:0022603 biolink:NamedThing brachydactyly tibial hypoplasia tmpte7i6ely_mondo_relaxed.owl GARD:0000977 https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia owl:Class MONDO:0005728 biolink:NamedThing diaphragm disorder A disease involving the diaphragm. tmpte7i6ely_mondo_relaxed.owl diaphragmatic disease|disease of diaphragm|disorder of diaphragm|disease or disorder of diaphragm|diaphragm disease or disorder|diaphragm disease|diaphragmatic disorder ICD9:519.4|EFO:0007233|UMLS:C0152097|DOID:10481|ICD10:J98.6|SCTID:48475001 owl:Class MONDO:0042912 biolink:NamedThing Schlegelberger-Grote syndrome tmpte7i6ely_mondo_relaxed.owl Schlegelberger Grote syndrome|syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|triphalangeal thumbs thrombocytopathy deafness GARD:0000255|UMLS:C2931273|MESH:C536635 owl:Class HP:0100360 biolink:NamedThing Contractures of the joints of the upper limbs tmpte7i6ely_mondo_relaxed.owl UMLS:C2750635 doelkens 2010-11-11T04:18:29Z human_phenotype owl:Class HP:0003121 biolink:NamedThing Limb joint contracture A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. tmpte7i6ely_mondo_relaxed.owl Limb contractures UMLS:C1969879 HP:0005839|HP:0005631 human_phenotype owl:Class MONDO:0017765 biolink:NamedThing disorder of magnesium transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. tmpte7i6ely_mondo_relaxed.owl inborn magnesium ion transport disorder|rare inborn error of magnesium ion transport|inborn error of magnesium ion transport Orphanet:309848|UMLS:CN227207|ICD10:E83.4 owl:Class MONDO:0021130 biolink:NamedThing disorder of sphingolipid biosynthesis An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl inborn error of sphingolipid biosynthetic process|inborn sphingolipid biosynthetic process disorder|rare inborn error of sphingolipid biosynthetic process owl:Class MONDO:0019820 biolink:NamedThing univentricular cardiopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:95483 owl:Class MONDO:0017683 biolink:NamedThing methylcobalamin deficiency type cblDv1 tmpte7i6ely_mondo_relaxed.owl functional methionine synthase deficiency type cblDv1 Orphanet:308380|OMIM:277410|UMLS:CN203574|ICD10:E72.1 owl:Class MONDO:0018964 biolink:NamedThing homocystinuria without methylmalonic aciduria Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). tmpte7i6ely_mondo_relaxed.owl methylcobalamin deficiency|functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria Orphanet:622|OMIM:250940|ICD10:E72.1|OMIM:236270|UMLS:C4303479|OMIM:277410|SCTID:721225009 owl:Class NCBITaxon:197913 biolink:NamedThing Gammainfluenzavirus tmpte7i6ely_mondo_relaxed.owl Influenzavirus C GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11308 biolink:NamedThing Orthomyxoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:50268 biolink:NamedThing GABA modulator A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act. tmpte7i6ely_mondo_relaxed.owl GABA modulators owl:Class CHEBI:51374 biolink:NamedThing GABA agent A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008658 biolink:NamedThing virus Rd114 RNA Complementarity tmpte7i6ely_mondo_relaxed.owl virus Rd114 RNA Complementarity OMIM:193070 owl:Class UBERON:0013759 biolink:NamedThing internal cervical os tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010396 biolink:NamedThing developmental and epileptic encephalopathy, 2 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 2|infantile spasm syndrome, X-linked 2|developmental and epileptic encephalopathy, 2|epileptic encephalopathy, early infantile, 2|EIEE2|DEE2|early infantile epileptic encephalopathy caused by mutation in CDKL5|CDKL5 early infantile epileptic encephalopathy ICD10:G40.4|MESH:C564064|Orphanet:505652|OMIM:300672|UMLS:C1839333|DOID:0080467 owl:Class MONDO:0005236 biolink:NamedThing xanthoma A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. tmpte7i6ely_mondo_relaxed.owl xanthoma|xanthoma (disease) xanthoma (disease) EFO:0003075|HP:0001114|NCIT:C4071 owl:Class MONDO:0000045 biolink:NamedThing hypothyroidism, congenital, nongoitrous tmpte7i6ely_mondo_relaxed.owl OMIMPS:275200 owl:Class GO:0002717 biolink:NamedThing positive regulation of natural killer cell mediated immunity Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl upregulation of natural killer cell mediated immunity|stimulation of natural killer cell mediated immunity|positive regulation of natural killer cell activity|activation of natural killer cell mediated immunity|positive regulation of NK cell activity|up-regulation of natural killer cell mediated immunity|up regulation of natural killer cell mediated immunity|positive regulation of NK cell mediated immunity owl:Class MONDO:0011935 biolink:NamedThing retinitis pigmentosa 30 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in FSCN2|RP30|retinitis pigmentosa 30|RP 30|macular Degeneration|FSCN2 retinitis pigmentosa|retinitis pigmentosa type 30 OMIM:607921|GARD:0010401|ICD10:H35.5|DOID:0110406|UMLS:C1842816 owl:Class CL:2000070 biolink:NamedThing optic choroid fibroblast Any fibroblast that is part of a optic choroid. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6620 TermGenie 2014-10-07T18:50:43Z cell owl:Class CHEBI:38092 biolink:NamedThing cardenolide glycoside Any member of the class of cardenolides with glycosyl residues attached to position 3. tmpte7i6ely_mondo_relaxed.owl 5alpha-cardenolide glycoside|5beta-cardenolide glycoside owl:Class CHEBI:74634 biolink:NamedThing cardenolides Any steroid lactone that is a C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004661 biolink:NamedThing trachea carcinoma in situ A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion. tmpte7i6ely_mondo_relaxed.owl trachea carcinoma in situ|severe epithelial dysplasia of trachea|carcinoma in situ of trachea|trachea in situ carcinoma|tracheal carcinoma in situ|stage 0 trachea carcinoma|carcinoma in situ of the trachea SCTID:92772005|UMLS:C0154070|ICD10:D02.1|NCIT:C3639|DOID:8802|ICD9:231.1 owl:Class CHEBI:33836 biolink:NamedThing benzenoid aromatic compound tmpte7i6ely_mondo_relaxed.owl benzenoid aromatic compounds|benzenoid compound owl:Class MONDO:0003256 biolink:NamedThing neurohypophysis granular cell tumor A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl granular cell tumor of Neurohypophysis|granular cell tumor of neurohypophysis|granular cell tumor of the posterior pituitary gland|granular cell tumor of the Neurohypophysis (WHO grade I)|neurohypophysis granular cell tumor|granular cell tumor of the neurohypophysis NCIT:C7017|UMLS:C1333873|SCTID:699331002|ICDO:9582/0|EFO:1000285|DOID:5047 owl:Class MONDO:0022574 biolink:NamedThing biliary atresia intrahepatic syndromic form tmpte7i6ely_mondo_relaxed.owl GARD:0000888 https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form owl:Class UBERON:0009027 biolink:NamedThing vesical artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016237 biolink:NamedThing diffuse neonatal hemangiomatosis Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. tmpte7i6ely_mondo_relaxed.owl SCTID:254782003|ICD10:Q82.8|GARD:0001861|UMLS:C0474965|Orphanet:2123 https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis owl:Class MONDO:0007070 biolink:NamedThing adiposis dolorosa Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. tmpte7i6ely_mondo_relaxed.owl Neurolipomatosis|adiposis dolorosa|Dercum's disease|lipomatosis dolorosa|Dercum disease|Adiposalgia|adipose tissue rheumatism OMIM:103200|ICD10:E88.2|UMLS:C0001529|NCIT:C84540|GARD:0005750|Orphanet:36397|Wikipedia:Adiposis_dolorosa|ICD9:272.8|MedDRA:10001294|MESH:D000274|EFO:1000667|SCTID:71404003|DOID:3928 https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa owl:Class MONDO:0019517 biolink:NamedThing Waardenburg syndrome type 2 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. tmpte7i6ely_mondo_relaxed.owl WS 2|Waardenburg syndrome type II|Waardenburg syndrome type 2|WS2|WS type 2 GARD:0005520|OMIM:193510|OMIM:608890|UMLS:C2700265|MESH:C536463|OMIM:611584|ICD10:E70.3|OMIM:606662|NCIT:C75009|Orphanet:895|OMIM:600193 https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2 owl:Class MONDO:0100161 biolink:NamedThing hyperkalemic renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. tmpte7i6ely_mondo_relaxed.owl type 4 renal tubular acidosis|renal tubular acidosis type 4|hyperkalemic RTA|type 4 RTA Orphanet:89939 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002507 biolink:NamedThing gingival overgrowth Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574) tmpte7i6ely_mondo_relaxed.owl gingival enlargement MESH:D019214|ICD9:523.8|SCTID:54711002|DOID:3086|ICD10:K06.1 owl:Class MONDO:0002021 biolink:NamedThing gingival disorder A disease involving the gingiva. tmpte7i6ely_mondo_relaxed.owl gingiva disease or disorder|disorder of gingiva|gingiva disease|disease of gingiva|disease or disorder of gingiva MESH:D005882|UMLS:C0017563|SCTID:18718003|DOID:1483 owl:Class MONDO:0007852 biolink:NamedThing palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. tmpte7i6ely_mondo_relaxed.owl palmoplantar hyperkeratosis-hearing loss syndrome|palmoplantar keratoderma-hearing loss syndrome|keratoderma palmoplantar, with deafness|keratoderma palmoplantar deafness|palmoplantar hyperkeratosis-deafness syndrome|focal palmoplantar keratoderma with sensorineural deafness (subtype)|keratoderma, palmoplantar, with deafness|diffuse palmoplantar keratoderma with deafness (subtype)|PPK-deafness syndrome|hereditary palmoplantar keratoderma with deafness (subtype)|palmoplantar keratoderma and sensorineural deafness UMLS:C1835672|MESH:C536152|ICD10:Q82.8|DOID:0111505|Orphanet:2202|GARD:0003094|OMIM:148350 owl:Class GO:0016860 biolink:NamedThing intramolecular oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears. tmpte7i6ely_mondo_relaxed.owl intramolecular isomerase activity|intramolecular oxidoreductase activity, other intramolecular oxidoreductases owl:Class MONDO:0018531 biolink:NamedThing carcinoma of liver and intrahepatic biliary tract A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. tmpte7i6ely_mondo_relaxed.owl liver and intrahepatic bile duct cancer|liver and intrahepatic bile duct carcinoma|carcinoma of liver|primary liver carcinoma|cancer of liver|liver/hepatobiliary cancer|liver cancer|cancer of the liver and intrahepatic biliary tract|hepatic cancer|carcinoma of liver and IBT|liver and intrahepatic biliary tract carcinoma|liver and intrahepatic biliary tract cancer|cancer of the liver|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|liver carcinoma|cancer of liver and intrahepatic biliary tract UMLS:C0279000|ONCOTREE:HCCIHCH|NCIT:C7927|Orphanet:424936 Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper owl:Class FOODON:03420295 biolink:NamedThing fruit seed (anatomical part) The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's). Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus). tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0009010 biolink:NamedThing seed A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088). tmpte7i6ely_mondo_relaxed.owl 種子 (Japanese, exact)|pyrene (narrow)|diaspore (broad)|semilla (Spanish, exact) PO_GIT:405 A seed generally develops from an ovule (PO:0020003) after fertilization, but may develop without fertilization in the case of apogamy (e.g., adventitious embryos or somatic embryos). A seed is a reproductive unit of seed plants (gymnosperms, angiosperms, and fossil pteridosperms). plant_anatomy owl:Class HGNC:3584 biolink:NamedThing FANCC tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11950 biolink:NamedThing TNNT3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002550 biolink:NamedThing fibroblast of the conjunctiva A fibroblast that is part of the conjuctiva of the eye. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:03:44Z cell owl:Class MONDO:0030933 biolink:NamedThing Joubert syndrome 37 tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 37|JBTS37 OMIM:619185 owl:Class MONDO:0020468 biolink:NamedThing paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpte7i6ely_mondo_relaxed.owl UPD(13)pat|paternal uniparental disomy of chromosome type 13 Orphanet:99324|ICD10:Q99.8 owl:Class MONDO:0006622 biolink:NamedThing vulvar seborrheic keratosis A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. tmpte7i6ely_mondo_relaxed.owl seborrheic keratosis of mammalian vulva|seborrheic keratosis of the vulva|seborrheic keratosis of vulva|mammalian vulva seborrheic keratosis NCIT:C6375|UMLS:C1336981|EFO:1000779|DOID:6944 owl:Class HGNC:2394 biolink:NamedThing CRYBA1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002076 biolink:NamedThing Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. tmpte7i6ely_mondo_relaxed.owl Migraine headaches|Migraine headache|Intermittent migraine headaches|Migraine MSH:D008881|SNOMEDCT_US:37796009|UMLS:C0149931|UMLS:C0744641 HP:0007194 human_phenotype owl:Class MONDO:0017091 biolink:NamedThing bilateral polymicrogyria Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. tmpte7i6ely_mondo_relaxed.owl SCTID:765757003|OMIM:610031|ICD10:Q04.3|OMIM:614833|OMIM:612691|OMIM:606854|OMIM:300388|OMIM:615752|Orphanet:268940|OMIM:616531 owl:Class MONDO:0000087 biolink:NamedThing polymicrogyria A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. tmpte7i6ely_mondo_relaxed.owl NCIT:C116936|ICD10:Q04.3|UMLS:C0266464|GARD:0012271|MESH:D065706|Orphanet:35981|SCTID:4945003 owl:Class MONDO:0019451 biolink:NamedThing chronic neutrophilic leukemia A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene. tmpte7i6ely_mondo_relaxed.owl neutrophilic leukemia|CNL|chronic neutrophilic leukemia DOID:0080187|MESH:D015467|Orphanet:86829|NCIT:C3179|EFO:1000179|GARD:0010585|UMLS:C0023481|ICD10:D47.1|ICDO:9963/3|UMLS:C0474856|ONCOTREE:CNL|SCTID:188734009 https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia owl:Class UBERON:0004183 biolink:NamedThing placental labyrinth blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022358 biolink:NamedThing placenta blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:135621 biolink:NamedThing Pseudomonadaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0010888 biolink:NamedThing endometriosis of uterus The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia. tmpte7i6ely_mondo_relaxed.owl endometriosis (disease) of myometrium|adenomyosis of uterus|uterine adenomyosis|uterine corpus adenomyosis|adenomyosis of the uterus|uterus corpus adenomyosis|endometriosis of myometrium|adenomyosis|endometriosis, myometrium|endometriosis interna|myometrium endometriosis (disease) NCIT:C6996|DOID:288|SCTID:237115002|OMIM:600458|GARD:0008156|ICD9:617.0|EFO:1001757|UMLS:C0341858|ICD10:N80.0|MESH:D062788 Editor note: NCIT does not classify as a subtype of endometriosis owl:Class MONDO:0006008 biolink:NamedThing vestibular neuronitis Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) tmpte7i6ely_mondo_relaxed.owl vestibular neuritis|epidemic neurolabyrinthitis ICD9:386.12|EFO:0007537|MESH:D020338|ICD9:078.81|UMLS:C0751908|ICD10:H81.2|ICD10:A88.1|DOID:12683|SCTID:186738001|ICD10:H81.20 owl:Class MONDO:0002122 biolink:NamedThing neuritis A neuropathy arising from inflammation of one or more nerves. tmpte7i6ely_mondo_relaxed.owl peripheral neuritis|nerve inflammation DOID:1803|MESH:D009443|NCIT:C116381|ICD9:729.2|UMLS:C0027813|SCTID:128192007|SCTID:84299009 owl:Class MONDO:0000236 biolink:NamedThing oropharyngeal anthrax A anthrax infection that involves the oropharynx. tmpte7i6ely_mondo_relaxed.owl oropharynx anthrax infection DOID:0050059 owl:Class MONDO:0001701 biolink:NamedThing gastrointestinal anthrax An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. tmpte7i6ely_mondo_relaxed.owl DOID:13386|MESH:C571911|ICD10:A22.2|ICD9:022.2|SCTID:111798006|UMLS:C0152945 owl:Class UBERON:0003487 biolink:NamedThing skin sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018062 biolink:NamedThing autosomal dominant trichoodontoonychodysplasia-syndactyly tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia with corkscrew hairs|Trueb Burg Bottani syndrome|Trueb-Burg-Bottani syndrome|Tricho-odonto-onychodysplasia with syndactyly Orphanet:3357|GARD:0005376|UMLS:C2931239|MESH:C536565 https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome owl:Class MONDO:0012138 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B6 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. tmpte7i6ely_mondo_relaxed.owl congenital muscular dystrophy large-related|MDC1D|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|muscular dystrophy, congenital, large-related|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|MDDGB6|muscular dystrophy, congenital, type 1D|congenital muscular dystrophy type 1D DOID:0110637|Orphanet:98894|ICD10:G71.2|UMLS:C1837229|MESH:C563844|Orphanet:370968|OMIM:608840 owl:Class UBERON:0036362 biolink:NamedThing wall of anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014070 biolink:NamedThing oculocutaneous albinism type 7 Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination. tmpte7i6ely_mondo_relaxed.owl oculocutaneous albinism caused by mutation in LRMDA|LRMDA oculocutaneous albinism|OCA7|albinism, oculocutaneous, type VII|albinism, oculocutaneous, type 7|oculocutaneous albinism type VII UMLS:CN204524|UMLS:C3808786|OMIM:615179|DOID:0070100|Orphanet:352745|ICD10:E70.3|SCTID:722059002 owl:Class MONDO:0003857 biolink:NamedThing adult intracranial malignant hemangiopericytoma A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population. tmpte7i6ely_mondo_relaxed.owl adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|adult malignant intracranial hemangiopericytoma|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3|malignant adult intracranial hemangiopericytoma|adult intracranial anaplastic hemangiopericytoma UMLS:C4331858|NCIT:C9183|UMLS:C1334558|DOID:6333 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class HGNC:10912 biolink:NamedThing SLC12A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008150 biolink:NamedThing osteoglophonic dwarfism Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. tmpte7i6ely_mondo_relaxed.owl osteoglophonic dwarfism|Osteoglosphonic dysplasia|OGD|OSTEOGLOPHONIC dysplasia|Fairbank-Keats syndrome DOID:0111532|SCTID:254144002|ICD10:Q87.1|Orphanet:2645|MESH:C536050|OMIM:166250|GARD:0004142 owl:Class UBERON:0002099 biolink:NamedThing cardiac septum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008079 biolink:NamedThing neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome tmpte7i6ely_mondo_relaxed.owl duodenal carcinoid syndrome|neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome|Npdc syndrome UMLS:C1834232|MESH:C563522|GARD:0010543|OMIM:162240 owl:Class MONDO:0002407 biolink:NamedThing capillary hemangioma A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. tmpte7i6ely_mondo_relaxed.owl strawberry nevus of skin|capillary angioma|congenital vascular naevus|congenital vascular hamartoma|capillary hemangioma (morphologic abnormality)|juvenile hemangioma|infantile hemangioma|capillary hemangioma|strawberry haemangioma|cellular hemangioma of infancy|strawberry nevus|cellular hemangioma of infancy (strawberry nevus) SCTID:56975005|MESH:D018324|NCIT:C7457|DOID:2725|ICD10:Q82.5|UMLS:C0206733|ICDO:9131/0 owl:Class MONDO:0030020 biolink:NamedThing combined oxidative phosphorylation deficiency 44 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 44|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44|COXPD44 OMIM:618855 owl:Class MONDO:0044070 biolink:NamedThing candidemia A form of invasive candidiasis where species of candida are present in the blood. tmpte7i6ely_mondo_relaxed.owl candidemia|Candidemias SCTID:432261003|MESH:D058387|UMLS:C0877445|EFO:1001311 owl:Class MONDO:0044067 biolink:NamedThing candidiasis, invasive A fungal infection by any of the Candida species in a sterile body compartment. tmpte7i6ely_mondo_relaxed.owl invasive candidiases|candidiases, invasive|invasive candidiasis MESH:D058365|EFO:1001282|NCIT:C116813 owl:Class MONDO:0021631 biolink:NamedThing brain astrocytoma A astrocytoma (excluding glioblastoma) that involves the brain. tmpte7i6ely_mondo_relaxed.owl brain astrocytoma (excluding glioblastoma)|astrocytoma (excluding glioblastoma) of brain|brain astrocytoma NCIT:C60780|UMLS:C3695127|SCTID:254938000 owl:Class NCBITaxon:6685 biolink:NamedThing Penaeidae tmpte7i6ely_mondo_relaxed.owl penaeid shrimps GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015248 biolink:NamedThing ataxia-photosensitivity-short stature syndrome Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl Fenton-Wilkinson-Toselano syndrome UMLS:CN237421|Orphanet:1184 owl:Class NCBITaxon:4859 biolink:NamedThing Basidiobolus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021144 biolink:NamedThing ovarian clear cell tumor A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells. tmpte7i6ely_mondo_relaxed.owl ovarian clear cell tumor|ovarian clear cell neoplasm|clear cell ovarian cancer NCIT:C40076|ONCOTREE:CCOV|UMLS:C0346164 owl:Class GO:0031945 biolink:NamedThing positive regulation of glucocorticoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpte7i6ely_mondo_relaxed.owl stimulation of glucocorticoid metabolic process|up regulation of glucocorticoid metabolic process|activation of glucocorticoid metabolic process|positive regulation of glucocorticoid metabolism|up-regulation of glucocorticoid metabolic process|upregulation of glucocorticoid metabolic process owl:Class MONDO:0011468 biolink:NamedThing hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. tmpte7i6ely_mondo_relaxed.owl hereditary motor and sensory neuropathy, proximal type|HMSNO|neuropathy, hereditary motor and sensory, Okinawa type|HMSNP|hereditary motor and sensory neuropathy, proximal type, formerly OMIM:604484|GARD:0010131|ICD10:G60.0|Orphanet:90117|MESH:C535717 owl:Class UBERON:0004908 biolink:NamedThing upper digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33655 biolink:NamedThing aromatic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. tmpte7i6ely_mondo_relaxed.owl aromatics|aromatische Verbindungen|aromatic compounds|aromatic molecular entity owl:Class MONDO:0013829 biolink:NamedThing UV-sensitive syndrome 2 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene. tmpte7i6ely_mondo_relaxed.owl UVSS2|UV-sensitive syndrome type 2|ERCC8 UV-sensitive syndrome|UV-sensitive syndrome 2|UV-sensitive syndrome caused by mutation in ERCC8 OMIM:614621|UMLS:C3553298|Orphanet:178338 owl:Class UBERON:0005004 biolink:NamedThing mucosa of right ureter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021317 biolink:NamedThing cancer of cerebellum A cancer that involves the cerebellum. tmpte7i6ely_mondo_relaxed.owl cerebellum cancer|malignant neoplasm of the cerebellum|malignant tumor of cerebellum|malignant neoplasm of cerebellum|cerebellar cancer|cerebellar neoplasm, malignant|malignant cerebellar tumor|malignant cerebellum neoplasm|cancer of the cerebellum|malignant cerebellar neoplasm|malignant tumor of the cerebellum|cancer of cerebellum|cerebellar tumor, malignant|malignant cerebellar neoplasms ICD9:191.6|NCIT:C3569|SCTID:449420002 owl:Class MONDO:0005692 biolink:NamedThing cat-scratch disease Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. tmpte7i6ely_mondo_relaxed.owl benign lymphoreticulosis|cat scratch fever|bartonellosis due to Bartonella henselae infection|Cat-scratch fever|debre's syndrome|Cat scratch disease|Foshay-Mollaret Cat scratch fever|debre-Mollaret syndrome MESH:D002372|ICD9:078.3|GARD:0000027|UMLS:CN205187|DOID:11258|EFO:0007195|Orphanet:50839|SCTID:79974007|ICD10:A28.1|MedDRA:10007729|UMLS:C0007361|NCIT:C84620 https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease owl:Class MONDO:0007906 biolink:NamedThing familial partial lipodystrophy, Dunnigan type Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. tmpte7i6ely_mondo_relaxed.owl lipodystrophy, familial partial, Dunnigan type|FPLD2|FPL2|familial lipodystrophy of limbs and lower trunk|lipodystrophy, reverse partial|familial partial lipodystrophy type 2|reverse partial lipodystrophy|familial partial lipodystrophy Dunnigan type|Dunnigan syndrome|lipodystrophy, familial, of limbs and Lower trunk|lipodystrophy, familial partial, type 2 GARD:3126|SCTID:715439000|Orphanet:2348|DOID:0070202|ICD10:E88.1|GARD:0003126|OMIM:151660 owl:Class MONDO:0016344 biolink:NamedThing hydranencephaly A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl Hydroanencephaly|hydranencephaly (disease)|hydranencephaly hydranencephaly (disease) UMLS:C0020225|NCIT:C98949|DOID:4626|ICD10:Q04.3|SCTID:30023002|Orphanet:2177|HP:0002324|GARD:0006681|MESH:D006832 owl:Class MONDO:0021243 biolink:NamedThing parotid gland neoplasm A neoplasm (disease) that involves the parotid gland. tmpte7i6ely_mondo_relaxed.owl neoplasm of the parotid|parotid gland tumor|parotid neoplasm|tumor of the parotid|tumor of parotid|parotid tumor|tumor of the parotid gland|tumor of parotid gland|neoplasm of the parotid gland|neoplasm of parotid gland|parotid gland neoplasm (disease)|neoplasm of parotid SCTID:126788000|NCIT:C3314|EFO:0003873 owl:Class MONDO:0021977 biolink:NamedThing basaloid follicular hamartoma A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy. tmpte7i6ely_mondo_relaxed.owl basal cell nevus with comedones|basaloid follicular hamartoma ICD9:706.1|SCTID:254705003|GARD:0002354|NCIT:C4749|UMLS:C0474964 https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma owl:Class MONDO:0021315 biolink:NamedThing malignant tumor of nasopharynx A cancer that involves the nasopharynx. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the nasopharynx|malignant nasopharynx neoplasm|cancer of nasopharynx|malignant tumor of the nasopharynx|malignant nasopharyngeal tumor|malignant nasopharyngeal neoplasm|nasopharynx cancer|malignant neoplasm of nasopharynx ICD9:147.8|UMLS:C0238301|ICD9:147.9|SCTID:187692001|UMLS:C0153392|NCIT:C9321 owl:Class MONDO:0005375 biolink:NamedThing nasopharyngeal neoplasm A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma. tmpte7i6ely_mondo_relaxed.owl tumor of nasopharynx|neoplasm of nasopharynx|neoplasm of the nasopharynx|nasopharynx tumor|tumor of the nasopharynx|nasopharynx neoplasm (disease)|nasopharyngeal neoplasms|nasopharyngeal tumor|nasopharynx neoplasm SCTID:126680004|MESH:C538339|UMLS:C0027439|MESH:D009303|NCIT:C3257|EFO:0004252 MONDO:0021362 owl:Class MONDO:0015028 biolink:NamedThing 48,XXYY syndrome The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. tmpte7i6ely_mondo_relaxed.owl 48,XXYY Klinefelter syndrome|XXYY syndrome|48, XXYY syndrome|48,XXYY variant of Klinefelter's syndrome GARD:0005677|ICD10:Q98.8|UMLS:C2936741|SCTID:403760006|Orphanet:10|ICD9:758.81|MedDRA:10048230|NCIT:C89801 https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome owl:Class CHEBI:38418 biolink:NamedThing 1,3-thiazoles tmpte7i6ely_mondo_relaxed.owl 1,3-thiazoles owl:Class CHEBI:48901 biolink:NamedThing thiazoles An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom. tmpte7i6ely_mondo_relaxed.owl thiazole owl:Class GO:0006644 biolink:NamedThing phospholipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. tmpte7i6ely_mondo_relaxed.owl phospholipid metabolism owl:Class MONDO:0007128 biolink:NamedThing annular erythema tmpte7i6ely_mondo_relaxed.owl annular erythema SCTID:200920000|UMLS:C0234906|OMIM:106500|MESH:C562461 owl:Class UBERON:0003506 biolink:NamedThing chest blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030875 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 5 tmpte7i6ely_mondo_relaxed.owl FTDALS5|frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM:619141 owl:Class MONDO:0030923 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis tmpte7i6ely_mondo_relaxed.owl OMIMPS:105500 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0043243 biolink:NamedThing positive regulation of protein-containing complex disassembly Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein complex disassembly|upregulation of protein complex disassembly|up-regulation of protein complex disassembly|stimulation of protein complex disassembly|activation of protein complex disassembly|up regulation of protein complex disassembly owl:Class GO:0051130 biolink:NamedThing positive regulation of cellular component organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpte7i6ely_mondo_relaxed.owl positive regulation of cellular component organization and biogenesis|activation of cell organization|upregulation of cell organization|positive regulation of cell organisation|up regulation of cell organization|stimulation of cell organization|up-regulation of cell organization owl:Class GO:0070859 biolink:NamedThing positive regulation of bile acid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpte7i6ely_mondo_relaxed.owl positive regulation of bile acid formation|positive regulation of bile acid biosynthesis|activation of bile acid biosynthetic process|positive regulation of bile acid anabolism|stimulation of bile acid biosynthetic process|positive regulation of bile acid synthesis|up regulation of bile acid biosynthetic process|upregulation of bile acid biosynthetic process|up-regulation of bile acid biosynthetic process owl:Class PATO:0000402 biolink:NamedThing branched A branchiness quality inhering in a bearer by virtue of the bearer's having branches. tmpte7i6ely_mondo_relaxed.owl ramified|ramiform owl:Class UBERON:0016550 biolink:NamedThing spinal cord column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001408 biolink:NamedThing ischemic neuropathy Neuropathy that is caused by inadequate blood supply. tmpte7i6ely_mondo_relaxed.owl ischemic peripheral neuropathy ICD9:356.9|SCTID:129611009|UMLS:C0238309|DOID:1195|NCIT:C27025 owl:Class MONDO:0008832 biolink:NamedThing right atrial isomerism A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. tmpte7i6ely_mondo_relaxed.owl Polyasplenia|splenic agenesis syndrome|asplenia syndrome|RAI|Vah, autosomal recessive|asplenia with cardiovascular anomalies|Ivemark syndrome|polysplenia syndrome|right atrial isomerism|heterotaxy, Visceroatrial, autosomal recessive|right isomerism|bilateral right-sidedness sequence|right atrial isomerism (disease) right atrial isomerism (disease) GARD:0006795|ICD10:Q20.6|Orphanet:97548|DOID:0060856|MedDRA:10068335|OMIM:208530|HP:0011536 owl:Class MONDO:0019554 biolink:NamedThing idiopathic localized lipodystrophy Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). tmpte7i6ely_mondo_relaxed.owl ICD10:E88.1|Orphanet:90158|UMLS:CN227650 owl:Class NCBITaxon:11628 biolink:NamedThing Machupo mammarenavirus tmpte7i6ely_mondo_relaxed.owl Machupo virus GC_ID:1 ncbi_taxonomy owl:Class CHEBI:46965 biolink:NamedThing (2R,3S)-2-aminooctadec-4-ene-1,3-diol A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration. tmpte7i6ely_mondo_relaxed.owl (2R,3S)-2-aminooctadec-4-ene-1,3-diol owl:Class HGNC:5959 biolink:NamedThing ELP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014747 biolink:NamedThing familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome tmpte7i6ely_mondo_relaxed.owl retinal dystrophy and iris coloboma with or without congenital cataract|RDICC OMIM:616722|UMLS:C4225233|Orphanet:488197 owl:Class ECTO:9000433 biolink:NamedThing exposure to polycyclic arene An exposure to polycyclic arene. tmpte7i6ely_mondo_relaxed.owl exposure to polycyclic arene owl:Class ECTO:9002148 biolink:NamedThing exposure to polycyclic hydrocarbon An exposure to polycyclic hydrocarbon. tmpte7i6ely_mondo_relaxed.owl exposure to polycyclic hydrocarbon owl:Class MONDO:0004450 biolink:NamedThing carotid artery occlusion A occlusion precerebral artery that involves the carotid artery segment. tmpte7i6ely_mondo_relaxed.owl occlusion and stenosis of carotid artery|occlusion precerebral artery of carotid artery segment|carotid artery segment occlusion precerebral artery SCTID:266254007|ICD9:433.10|UMLS:C0265101|DOID:807 owl:Class MONDO:0019111 biolink:NamedThing familial thrombocytosis Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. tmpte7i6ely_mondo_relaxed.owl hereditary thrombocytosis disease|familial thrombocythemia|hereditary thrombocythemia|hereditary thrombocytosis|thrombocythemia|THCYT OMIMPS:187950|SCTID:720950009|ICD10:D75.2|OMIM:187950|UMLS:CN205627|OMIM:300331|Orphanet:71493|OMIM:601977|OMIM:614521 owl:Class MONDO:0004650 biolink:NamedThing malignant carotid body paraganglioma A carotid body paraganglioma that metastasizes to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl malignant tumor of carotid body|malignant carotid body tumor|malignant neoplasm of the carotid body|cancer of carotid body|carotid body paraganglioma, malignant|malignant carotid body paraganglioma|malignant carotid body tumor (morphologic abnormality)|carotid body cancer|malignant neoplasm of carotid body|malignant tumor of the carotid body|malignant carotid body neoplasm|chemodectoma, malignant NCIT:C3574|ICD10:C75.4|UMLS:C0153656|ICD9:194.5|SCTID:447883002|DOID:8731 owl:Class MONDO:0009741 biolink:NamedThing neuroblastoma, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl neuroblastoma, susceptibility to|susceptibility to neuroblastoma OMIM:256700 owl:Class MONDO:0000700 biolink:NamedThing familial hemiplegic migraine A migraine disorder characterized by individual and family history of aura that includes motor weakness. tmpte7i6ely_mondo_relaxed.owl familial hemiplegic migraine|FHM|hereditary hemiplegic migraine|hemiplegic-ophthalmoplegic migraine|hemiplegic migraine, familial DOID:0060178|Orphanet:569|OMIM:609634|OMIMPS:141500|ICD10:G43.8|OMIM:602481|OMIM:607516|GARD:0010975|ICD9:346.8|SCTID:95656000|OMIM:141500|NCIT:C117009|OMIM:300125 owl:Class MONDO:0013800 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic and deafness type A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, kyphoscoliotic and deafness type|EDS, kyphoscoliotic and hearing loss type|Ehlers-Danlos syndrome, kyphoscoliotic type, 2|EDSKSCL2|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|EDSKMH|EDS with progressive kyphoscoliosis, myopathy, and deafness|EDS with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type OMIM:614557|Orphanet:300179|SCTID:720859009|UMLS:C3281160|ICD10:Q79.6 https://github.com/monarch-initiative/mondo/issues/4220 owl:Class MONDO:0016175 biolink:NamedThing cutis laxa Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. tmpte7i6ely_mondo_relaxed.owl generalized elastolysis|loose skin|elastolysis|cutis laxa SCTID:58588007|MedDRA:10011692|GARD:0006227|ICD10:Q82.8|MESH:D003483|Orphanet:209|NCIT:C84663|UMLS:C0010495|DOID:3144 https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa owl:Class HGNC:8031 biolink:NamedThing NTRK1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6388 biolink:NamedThing KIF11 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005246 biolink:NamedThing calcium channel regulator activity Modulates the activity of a calcium channel. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099106 biolink:NamedThing ion channel regulator activity Modulates the activity of a channel via direct interaction with it. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903025 biolink:NamedThing regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000677 biolink:NamedThing regulation of transcription regulatory region DNA binding Any process that modulates the frequency, rate or extent of transcription regulatory region DNA binding. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042481 biolink:NamedThing regulation of odontogenesis Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. tmpte7i6ely_mondo_relaxed.owl regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development owl:Class GO:1905124 biolink:NamedThing negative regulation of glucosylceramidase activity Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity. tmpte7i6ely_mondo_relaxed.owl down-regulation of glucocerebrosidase activity|down-regulation of glucosylcerebrosidase activity|down-regulation of glucosphingosine glucosylhydrolase activity|negative regulation of GlcCer-beta-glucosidase activity|down regulation of glucosphingosine glucosylhydrolase activity|negative regulation of ceramide glucosidase activity|down-regulation of beta-D-glucocerebrosidase activity|down regulation of glucosylcerebrosidase activity|inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity|downregulation of glucosylsphingosine beta-glucosidase activity|down regulation of glucosylsphingosine beta-glucosidase activity|downregulation of beta-glucocerebrosidase activity|negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|inhibition of acid beta-glucosidase activity|down-regulation of GlcCer-beta-glucosidase activity|negative regulation of glucosylsphingosine beta-D-glucosidase activity|down-regulation of beta-glucocerebrosidase activity|negative regulation of glucosphingosine glucosylhydrolase activity|down regulation of beta-glucosylceramidase activity|negative regulation of acid beta-glucosidase activity|downregulation of glucosylcerebrosidase activity|inhibition of glucosylsphingosine beta-D-glucosidase activity|negative regulation of glucosylcerebrosidase activity|downregulation of glucosylceramidase activity|down-regulation of psychosine hydrolase activity|negative regulation of GCase activity|negative regulation of beta-D-glucocerebrosidase activity|inhibition of beta-glucocerebrosidase activity|downregulation of ceramide glucosidase activity|down regulation of beta-glucocerebrosidase activity|downregulation of glucosylsphingosine beta-D-glucosidase activity|downregulation of beta-glucosylceramidase activity|downregulation of psychosine hydrolase activity|inhibition of glucocerebrosidase activity|inhibition of glucosylcerebrosidase activity|down regulation of ceramide glucosidase activity|inhibition of glucosylsphingosine beta-glucosidase activity|down-regulation of ceramide glucosidase activity|downregulation of glucocerebrosidase activity|down regulation of glucocerebrosidase activity|inhibition of glucosphingosine glucosylhydrolase activity|down-regulation of glucosylceramidase activity|downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down-regulation of glucosylsphingosine beta-glucosidase activity|down-regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of beta-D-glucocerebrosidase activity|down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|downregulation of glucosphingosine glucosylhydrolase activity|inhibition of GlcCer-beta-glucosidase activity|negative regulation of beta-glucocerebrosidase activity|downregulation of acid beta-glucosidase activity|down-regulation of beta-glucosylceramidase activity|inhibition of beta-D-glucocerebrosidase activity|down regulation of psychosine hydrolase activity|inhibition of glucosylceramidase activity|down-regulation of acid beta-glucosidase activity|negative regulation of glucosylsphingosine beta-glucosidase activity|negative regulation of psychosine hydrolase activity|down regulation of glucosylsphingosine beta-D-glucosidase activity|negative regulation of glucocerebrosidase activity|downregulation of beta-D-glucocerebrosidase activity|down regulation of GlcCer-beta-glucosidase activity|down regulation of acid beta-glucosidase activity|downregulation of GlcCer-beta-glucosidase activity|negative regulation of beta-glucosylceramidase activity|inhibition of beta-glucosylceramidase activity|inhibition of ceramide glucosidase activity|down regulation of glucosylceramidase activity|inhibition of psychosine hydrolase activity owl:Class UBERON:0004779 biolink:NamedThing respiratory system lamina propria tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004805 biolink:NamedThing seminal vesicle epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004982 biolink:NamedThing pancreatitis Inflammation of the pancreas. tmpte7i6ely_mondo_relaxed.owl inflammation of pancreas|pancreas inflammation ICD10:K85.9|UMLS:C0030305|SCTID:75694006|DOID:4989|EFO:0000278|MESH:D010195|NCIT:C3306 owl:Class ECTO:9001711 biolink:NamedThing exposure to antiinfective agent An exposure to antiinfective agent. tmpte7i6ely_mondo_relaxed.owl exposure to antiinfective agent owl:Class GO:0140657 biolink:NamedThing ATP-dependent activity A molecular function characterized by the coupling of ATP hydrolysis to other steps of a reaction mechanism to make the reaction energetically favorable, for example to catalyze a reaction or drive transport against a concentration gradient. tmpte7i6ely_mondo_relaxed.owl ATP hydrolysis-dependent activity|ATPase activity, coupled|ATPase-dependent activity owl:Class MONDO:0002450 biolink:NamedThing prostatic adenoma Focal benign glandular hyperplasia in the prostate gland. tmpte7i6ely_mondo_relaxed.owl prostate adenoma|prostate gland adenoma|adenoma - prostate|adenoma of prostate|benign adenoma of prostate|adenoma of the prostate MESH:D011470|UMLS:C0520477|SCTID:266569009|SCTID:21173002|DOID:2883|ICD9:600.20|NCIT:C4795 owl:Class GO:0003044 biolink:NamedThing regulation of systemic arterial blood pressure mediated by a chemical signal The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. tmpte7i6ely_mondo_relaxed.owl blood pressure regulation mediated by a chemical signal owl:Class GO:0003073 biolink:NamedThing regulation of systemic arterial blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001217 biolink:NamedThing DNA-binding transcription repressor activity A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets. tmpte7i6ely_mondo_relaxed.owl cadmium ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase transcriptional repressor activity, cadmium ion regulated sequence-specific DNA binding|transcriptional repressor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|bacterial-type RNA polymerase transcriptional repressor activity, copper ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|bacterial-type DNA binding transcription repressor activity|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding|transcriptional repressor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|copper ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription owl:Class GO:0003700 biolink:NamedThing DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. tmpte7i6ely_mondo_relaxed.owl nucleic acid binding transcription factor activity|bacterial-type RNA polymerase transcription factor activity, sequence-specific DNA binding|bacterial-type RNA polymerase transcription enhancer sequence-specific DNA binding transcription factor activity|bacterial-type DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|transcription factor activity, metal ion regulated sequence-specific DNA binding|gene-specific transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|bacterial-type RNA polymerase transcription factor activity, metal ion regulated sequence-specific DNA binding|DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding transcription factor activity|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|transcription factor activity|transcription factor activity, bacterial-type RNA polymerase transcription enhancer sequence-specific binding owl:Class MONDO:0100194 biolink:NamedThing pregnancy associated osteoporosis A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation. tmpte7i6ely_mondo_relaxed.owl pregnancy and lactation-associated osteoporosis http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0006647 biolink:NamedThing adventitia of ductus deferens tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33892 biolink:NamedThing iron coordination entity tmpte7i6ely_mondo_relaxed.owl iron coordination compounds|iron coordination entities|iron coordination entity owl:Class MONDO:0006374 biolink:NamedThing placental choriocarcinoma Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. tmpte7i6ely_mondo_relaxed.owl placenta choriocarcinoma (disease)|placenta choriocarcinoma|placental choriocarcinoma|choriocarcinoma of the placenta|choriocarcinoma of placenta NCIT:C8893|SCTID:448401007|UMLS:C0855173|DOID:2024|EFO:1000479 owl:Class MONDO:0020550 biolink:NamedThing gestational choriocarcinoma Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. tmpte7i6ely_mondo_relaxed.owl gestational choriocarcinoma (morphologic abnormality)|gestational chorionepithelioma|gestational choriocarcinoma|molar pregnancy with choriocarcinoma SCTID:417570003|NCIT:C4646|ICD10:C58|DOID:2025|UMLS:C0349557|ICD9:181|Orphanet:99926 owl:Class MONDO:0012381 biolink:NamedThing hyperinsulinism due to INSR deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia, familial, 5|HHF5|hyperinsulinemic hypoglycemia, familial, type 5|hyperinsulinemic hypoglycemia due to INSR deficiency|hyperinsulinemic hypoglycemia due to insulin receptor deficiency OMIM:609968|SCTID:721235003|MESH:C566494|ICD10:E16.1|UMLS:C1864952|DOID:0070220|Orphanet:263458 owl:Class OBO:CHR_9606-chr3p2 biolink:NamedThing 3p2 (Human) tmpte7i6ely_mondo_relaxed.owl 54400000 0 hg38 owl:Class CHEBI:139588 biolink:NamedThing alpha-hydroxy ketone An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. tmpte7i6ely_mondo_relaxed.owl alpha-hydroxy-ketones|alpha-hydroxy ketones|alpha-hydroxyketones|alpha-hydroxy-ketone|alpha-hydroxyketone owl:Class MONDO:0002842 biolink:NamedThing bacterial gastritis Gastritis resulting from bacteria. tmpte7i6ely_mondo_relaxed.owl bacterial gastritis|Bacteria gastritis (disease)|Bacteria caused gastritis (disease) SCTID:723096000|UMLS:C0948039|DOID:4033|NCIT:C27340 owl:Class MONDO:0020674 biolink:NamedThing vascular insufficiency disorder tmpte7i6ely_mondo_relaxed.owl vascular insufficiency SCTID:86341008 owl:Class MONDO:0006861 biolink:NamedThing myeloid sarcoma A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl MS|extramedullary myeloid tumor|sarcoma, myeloid, malignant|chloroma|myeloid sarcoma|granulocytic sarcoma ONCOTREE:MS|ICDO:9930/3|DOID:8683|ICD10:C92.30|MedDRA:10028562|Orphanet:86850|ICD10:C92.3|GARD:0012763|MESH:D023981|EFO:1001052|NCIT:C35815|NCIT:C3520|ICD9:205.3 owl:Class MONDO:0004986 biolink:NamedThing urinary bladder carcinoma A carcinoma that arises from epithelial cells of the urinary bladder tmpte7i6ely_mondo_relaxed.owl carcinoma of urinary bladder|urinary bladder carcinoma|cancer of the bladder|bladder carcinoma|bladder cancer|cancer of the urinary bladder|urinary bladder cancer|cancer of urinary bladder|cancer of bladder|carcinoma of the bladder|carcinoma of bladder|carcinoma of the urinary bladder|carcinoma bladder SCTID:255108000|HP:0002862|DOID:4007|OMIM:109800|UMLS:C0699885|NCIT:C4912|EFO:0000292 owl:Class MONDO:0005114 biolink:NamedThing pneumococcal infection Infections with bacteria of the species streptococcus pneumoniae. tmpte7i6ely_mondo_relaxed.owl Streptococcus pneumoniae caused disease or disorder|infections, pneumococcal|Streptococcus pneumoniae infection|infection, pneumococcal|pneumoniae infections, Streptococcus|pneumococcal infection|Streptococcus pneumoniae infections|pneumoniae infection, Streptococcus|Streptococcus pneumoniae disease or disorder|infections, Streptococcus pneumoniae|infection, Streptococcus pneumoniae|Streptococcus pneumoniae infectious disease SCTID:16814004|EFO:0000772|MESH:D011008|ICD9:041.2|UMLS:C0032269 owl:Class MONDO:0008728 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. tmpte7i6ely_mondo_relaxed.owl 21-OHD|CYP21 deficiency|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency|21-hydroxylase deficiency|classic 21-OHD CAH|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|adrenal hyperplasia 3|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|21 hydroxylase deficiency|classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|congenital adrenal hyperplasia 1 OMIM:201910|NCIT:C131087|Orphanet:90794|SCTID:717261006|ICD10:E25.0|GARD:0005757|MESH:C535979|GARD:0012665|SCTID:124221007|Orphanet:418|UMLS:C4273964 owl:Class GO:0045721 biolink:NamedThing negative regulation of gluconeogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. tmpte7i6ely_mondo_relaxed.owl down regulation of gluconeogenesis|down-regulation of gluconeogenesis|inhibition of gluconeogenesis|downregulation of gluconeogenesis owl:Class GO:0046485 biolink:NamedThing ether lipid metabolic process The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. tmpte7i6ely_mondo_relaxed.owl ether lipid metabolism|plasmalogen metabolic process owl:Class GO:0006662 biolink:NamedThing glycerol ether metabolic process The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. tmpte7i6ely_mondo_relaxed.owl glycerol ether metabolism owl:Class HGNC:6443 biolink:NamedThing KRT6A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006757 biolink:NamedThing ATP generation from ADP The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. tmpte7i6ely_mondo_relaxed.owl ADP phosphorylation owl:Class MONDO:0032802 biolink:NamedThing hearing loss, autosomal dominant 37 tmpte7i6ely_mondo_relaxed.owl DFNA37|DEAFNESS, AUTOSOMAL DOMINANT 37|deafness, autosomal dominant 37 OMIM:618533 owl:Class MONDO:0012774 biolink:NamedThing chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. tmpte7i6ely_mondo_relaxed.owl 15q13.3 microdeletion syndrome|chromosome 15q13.3 deletion syndrome|monosomy 15q13.3|Del(15)(q13.3)|15q13.3 microdeletion|chromosome 15q13.3 microdeletion syndrome|microdeletion 15q13.3 syndrome DOID:0060394|MESH:C567439|Orphanet:199318|ICD10:Q93.5|GARD:0010296|SCTID:699254009|OMIM:612001 owl:Class HP:0001965 biolink:NamedThing Abnormal scalp morphology Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. tmpte7i6ely_mondo_relaxed.owl Abnormality of the scalp|Anomaly of scalp UMLS:C4025734 The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. human_phenotype owl:Class MONDO:0006576 biolink:NamedThing Ludwig's angina Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl mouth floor cellulitis (disease)|cellulitis (disease) of mouth floor|Ludwig angina|cellulitis of floor of mouth UMLS:C0024081|SCTID:196542004|EFO:1000730|ICD9:528.3|MESH:D008158|Wikipedia:Ludwig's_angina|DOID:4558|UMLS:C3247204 owl:Class GO:0043143 biolink:NamedThing regulation of translation by machinery localization Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl establishment and maintenance of translational protein localization|establishment and maintenance of translational machinery localization|regulation of translation by machinery localisation|translational protein localization|translational machinery localization owl:Class GO:0008104 biolink:NamedThing protein localization Any process in which a protein is transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl establishment and maintenance of asymmetric protein localization|asymmetric protein localization|protein localisation|establishment and maintenance of protein localization|asymmetric protein localisation owl:Class MONDO:0008917 biolink:NamedThing heart defects-limb shortening syndrome Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. tmpte7i6ely_mondo_relaxed.owl cardioskeletal syndrome, KUWAITI type|cardioskeletal syndrome kuwaiti type|heart defect and limb shortening syndrome|heart defects and limb shortening GARD:0002613|Orphanet:1354|UMLS:C1859327|MESH:C535850|OMIM:212135|ICD10:Q87.2|SCTID:721009008 https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type owl:Class CHEBI:140503 biolink:NamedThing kaolin An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products. tmpte7i6ely_mondo_relaxed.owl porcelain clay|China clay|argilla|Bolus alba|white bole owl:Class CHEBI:60004 biolink:NamedThing mixture A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. tmpte7i6ely_mondo_relaxed.owl Mischung owl:Class UBERON:0012375 biolink:NamedThing subserosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016306 biolink:NamedThing Niemann-Pick disease type C, severe perinatal form tmpte7i6ely_mondo_relaxed.owl Orphanet:216972|ICD10:E75.2|UMLS:CN201112 owl:Class MONDO:0018982 biolink:NamedThing Niemann-Pick disease type C NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. tmpte7i6ely_mondo_relaxed.owl NPC Orphanet:646|OMIM:257220|MESH:D052556|SCTID:66751000|ICD10:E75.2|OMIM:607625 owl:Class NCBITaxon:318477 biolink:NamedThing Dracunculidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:55872 biolink:NamedThing Dracunculoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020153 biolink:NamedThing cryptophthalmia A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. tmpte7i6ely_mondo_relaxed.owl cryptophthalmos Orphanet:98562|SCTID:400951005|GARD:0010505|DOID:0111716|ICD9:743.06|NCIT:C124520 owl:Class HGNC:1966 biolink:NamedThing CHRNE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002961 biolink:NamedThing large cell acanthoma tmpte7i6ely_mondo_relaxed.owl NCIT:C27518|DOID:4321|UMLS:C1334362 owl:Class MONDO:0002093 biolink:NamedThing acanthoma A benign skin neoplasm composed of epithelial cells. tmpte7i6ely_mondo_relaxed.owl acanthoma|acanthoma (disease) acanthoma (disease) UMLS:C0846967|NCIT:C7419|GARD:0008604|MESH:D049309|DOID:174|HP:0025432 owl:Class MONDO:0011532 biolink:NamedThing hereditary spastic paraplegia 13 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia type 13|SPG13|autosomal dominant spastic paraplegia 13|spastic paraplegia 13|HSPD1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 13|spastic paraplegia 13, autosomal dominant|hereditary spastic paraplegia caused by mutation in HSPD1 OMIM:605280|DOID:0110766|UMLS:C1854467|Orphanet:100994|GARD:0009616|MESH:C537485|ICD10:G11.4 owl:Class MONDO:0023221 biolink:NamedThing Gaucher ichthyosis restrictive dermopathy tmpte7i6ely_mondo_relaxed.owl GARD:0002444 https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy owl:Class MONDO:0014871 biolink:NamedThing retinitis pigmentosa 75 Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in AGBL5|retinitis pigmentosa type 75|RP75|retinitis pigmentosa 75|AGBL5 retinitis pigmentosa DOID:0110361|OMIM:617023|ICD10:H35.5|UMLS:C4310759 owl:Class MONDO:0001526 biolink:NamedThing labia minora cancer A malignant neoplasm that affects the labia minora. tmpte7i6ely_mondo_relaxed.owl malignant tumor of labia minora|malignant neoplasm of labium minora|cancer of labium minora|malignant labia minora tumor|malignant labia minora neoplasm|labium minora cancer|malignant neoplasm of labium minus|malignant tumor of the labia minora|malignant neoplasm of labia minora|malignant neoplasm of the labia minora|malignant labium minora neoplasm ICD9:184.2|ICD10:C51.1|NCIT:C7637|DOID:1243|UMLS:C0496815|SCTID:363447008 owl:Class MONDO:0040679 biolink:NamedThing urothelial carcinoma A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. tmpte7i6ely_mondo_relaxed.owl urothelial carcinoma|transitional cell car. -uroth.|transitional cell carcinoma of the urinary tract|transitional cell carcinoma of the urothelial tract|Uroepithelial carcinoma NCIT:C4030|EFO:0008528|UMLS:C2145472 owl:Class MONDO:0014809 biolink:NamedThing DDX41-related hematologic malignancy predisposition syndrome Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene. tmpte7i6ely_mondo_relaxed.owl DDX41 hereditary neoplastic syndrome|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms|hereditary neoplastic syndrome caused by mutation in DDX41|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to|DDX41-related hematologic malignancy predisposition syndrome|MPLPF OMIM:616871|Orphanet:488647 owl:Class MONDO:0003943 biolink:NamedThing central nervous system hibernoma A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system hibernoma|hibernoma of central nervous system|hibernoma of nervous system|hibernoma of the central nervous system|nervous system hibernoma DOID:6607|UMLS:C1708362|NCIT:C6997 owl:Class MONDO:0021168 biolink:NamedThing hibernoma A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults. tmpte7i6ely_mondo_relaxed.owl Brown fat neoplasm|hibernoma|fetal fat cell lipoma|Brown fat tumor|hibernoma, benign ICDO:8880/0|UMLS:C0205822|NCIT:C3702|SCTID:404064001 owl:Class MONDO:0020354 biolink:NamedThing coloboma of choroid and retina Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. tmpte7i6ely_mondo_relaxed.owl retinal coloboma|retinochoroidal coloboma|choroidal coloboma OMIM:120200|Orphanet:98942|ICD10:Q14.8|SCTID:39302008|GARD:0001432 owl:Class NCBITaxon:766764 biolink:NamedThing Debaryomycetaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4892 biolink:NamedThing Saccharomycetales tmpte7i6ely_mondo_relaxed.owl budding yeasts|Endomycetales GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007426 biolink:NamedThing deafness, unilateral tmpte7i6ely_mondo_relaxed.owl deafness, unilateral MESH:C567079|UMLS:C2607947|OMIM:125000 owl:Class UBERON:0009042 biolink:NamedThing prostatic venous plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032751 biolink:NamedThing arthrogryposis, distal, type 2B3 tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, type 2B3|distal arthrogryposis type 2B3 (Sheldon-Hall)|DA2B3 DOID:0111602|OMIM:618436 owl:Class UBERON:0010192 biolink:NamedThing genital artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000639 biolink:NamedThing cartilage cancer A cancer involving a cartilage tissue. tmpte7i6ely_mondo_relaxed.owl cartilaginous cancer|malignant cartilage tissue neoplasm|cartilage tissue cancer|cancer of cartilage tissue|malignant neoplasm of cartilage tissue DOID:0060102|GARD:0006004 https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer owl:Class MONDO:0003042 biolink:NamedThing adult mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of adults UMLS:C1332207|NCIT:C27375|DOID:4547 owl:Class MONDO:0004273 biolink:NamedThing breast apocrine adenoma A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia. tmpte7i6ely_mondo_relaxed.owl breast apocrine adenoma|apocrine adenoma of breast UMLS:C1388299|DOID:7540|NCIT:C40383 owl:Class MONDO:0002804 biolink:NamedThing apocrine adenoma A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. tmpte7i6ely_mondo_relaxed.owl tubular apocrine adenoma SCTID:307596009|UMLS:C0334345|ICDO:8401/0|DOID:3895|NCIT:C4168 owl:Class MONDO:0016872 biolink:NamedThing partial deletion of chromosome 7 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 7|partial monosomy of chromosome 7 Orphanet:261796|ICD10:Q93.5 owl:Class MONDO:0045046 biolink:NamedThing inherited thyroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. tmpte7i6ely_mondo_relaxed.owl rare inborn error of thyroid hormone metabolic process|inborn thyroid hormone metabolic process disorder|inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism SCTID:36985004|UMLS:C0271824|ICD9:246.8 owl:Class MONDO:0016573 biolink:NamedThing acute fatty liver of pregnancy Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. tmpte7i6ely_mondo_relaxed.owl acute fatty liver, gestational|AFLP UMLS:C1455728|MedDRA:10000746|Orphanet:243367|SCTID:716379000|GARD:0009578|MESH:C537957|ICD10:O26.6 https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy owl:Class UBERON:0007391 biolink:NamedThing pelvic appendage cartilage tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016053 biolink:NamedThing organic acid biosynthetic process The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl organic acid synthesis|organic acid biosynthesis|organic acid formation|organic acid anabolism owl:Class MONDO:0012991 biolink:NamedThing Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. tmpte7i6ely_mondo_relaxed.owl Kahrizi syndrome|KHRZ|mental retardation, cataract, coloboma, and kyphosis, autosomal recessive|intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive OMIM:612713|UMLS:CN200191|Orphanet:168972|DOID:0050807|UMLS:C2675185|MESH:C567196 owl:Class MONDO:0042960 biolink:NamedThing Sackey-Sakati-Aur syndrome tmpte7i6ely_mondo_relaxed.owl Aur syndrome|Sackey Sakati Aur syndrome|multiple dysmorphic features and pancytopenia|pancytopenia multiple congenital anomalies UMLS:C2931442|GARD:0000315|MESH:C537219 owl:Class CL:2000008 biolink:NamedThing microvascular endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:07:42Z cell owl:Class ECTO:0001566 biolink:NamedThing exposure to cadmium An exposure to cadmium molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to cadmium molecular entity owl:Class UBERON:0004467 biolink:NamedThing musculature of pharynx tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010465 biolink:NamedThing Precocious puberty in females The onset of puberty before the age of 8 years in girls. tmpte7i6ely_mondo_relaxed.owl UMLS:C0271616|SNOMEDCT_US:19911007 peter 2009-09-15T08:48:42Z human_phenotype owl:Class HP:0000826 biolink:NamedThing Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. tmpte7i6ely_mondo_relaxed.owl Early puberty|Early onset of puberty UMLS:C0034013|SNOMEDCT_US:400179000|SNOMEDCT_US:123527003|MSH:D011629 human_phenotype owl:Class MONDO:0006895 biolink:NamedThing penile neoplasm A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpte7i6ely_mondo_relaxed.owl tumor of penis|neoplasm of the penis|neoplasm of penis|penis neoplasm|tumor of the penis|penile neoplasms|penis tumor|penis neoplasm (disease)|penile neoplasm|penile tumor MedDRA:10061913|ICD9:239.5|MESH:D010412|EFO:1001094|NCIT:C3317|ONCOTREE:PENIS|SCTID:126896003|UMLS:C0030849|DOID:11624 owl:Class GO:1902624 biolink:NamedThing positive regulation of neutrophil migration Any process that activates or increases the frequency, rate or extent of neutrophil migration. tmpte7i6ely_mondo_relaxed.owl activation of neutrophil migration|up-regulation of neutrophil migration|up regulation of neutrophil migration|upregulation of neutrophil migration owl:Class GO:0002687 biolink:NamedThing positive regulation of leukocyte migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. tmpte7i6ely_mondo_relaxed.owl stimulation of leukocyte migration|up regulation of leukocyte migration|activation of leukocyte migration|up-regulation of leukocyte migration|positive regulation of leucocyte migration|upregulation of leukocyte migration|positive regulation of immune cell migration owl:Class HGNC:175 biolink:NamedThing ACVRL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032689 biolink:NamedThing retinitis pigmentosa 85 tmpte7i6ely_mondo_relaxed.owl RETINITIS PIGMENTOSA 85|RP85 OMIM:618345 owl:Class UBERON:0003511 biolink:NamedThing iris blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005476 biolink:NamedThing atrioventricular node disorder A disease involving the atrioventricular node. tmpte7i6ely_mondo_relaxed.owl atrioventricular node disease or disorder|disorder of atrioventricular node|atrioventricular node disease|disease of atrioventricular node|disease or disorder of atrioventricular node EFO:0005305 owl:Class MONDO:0028226 biolink:NamedThing autosomal recessive severe congenital neutropenia tmpte7i6ely_mondo_relaxed.owl Orphanet:439849 owl:Class MONDO:0044912 biolink:NamedThing metastatic malignant neoplasm in the spinal cord A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma. tmpte7i6ely_mondo_relaxed.owl Metastatic malignant neoplasm to the spinal cord|Metastatic neoplasm to the spinal cord|Metastatic malignant neoplasm in the spinal cord|Metastatic tumor to the spinal cord|Secondary malignant neoplasm to the spinal cord|metastasis to spinal cord|Secondary malignant tumor to the spinal cord NCIT:C4585|SCTID:94600009|UMLS:C0347016 owl:Class MONDO:0017147 biolink:NamedThing idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. tmpte7i6ely_mondo_relaxed.owl primary pulmonary arterial hypertension|IPAH ICD9:416.0|UMLS:CN202574|ICD10:I27.0|UMLS:C3203102|SCTID:697898008|Orphanet:275766|MedDRA:10065151 owl:Class MONDO:0008347 biolink:NamedThing idiopathic and/or familial pulmonary arterial hypertension Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. tmpte7i6ely_mondo_relaxed.owl idiopathic and/or familial pulmonary arterial hypertension|IFPAH|PPH1|pulmonary hypertension, primary, type 1|pulmonary hypertension, primary, 1 OMIM:615342|OMIM:615343|OMIM:265400|ICD10:I27.0|UMLS:CN205068|OMIM:178600|Orphanet:422|OMIM:615344 owl:Class CL:0000237 biolink:NamedThing keratinizing barrier epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0010511 biolink:NamedThing regulation of phosphatidylinositol biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071071 biolink:NamedThing regulation of phospholipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpte7i6ely_mondo_relaxed.owl regulation of phospholipid formation|regulation of phospholipid biosynthesis|regulation of phospholipid synthesis|regulation of phospholipid anabolism owl:Class MONDO:0001719 biolink:NamedThing gonococcal bursitis An bursitis caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl Neisseria gonorrhoeae bursitis|Neisseria gonorrhoeae caused bursitis UMLS:C0153218|SCTID:46699001|ICD9:098.52|ICD10:M73.0|DOID:13453|ICD10:A54.49 owl:Class HGNC:2063 biolink:NamedThing CLIC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016654 biolink:NamedThing ring chromosome 5 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). tmpte7i6ely_mondo_relaxed.owl Ring chromosome 5 syndrome|R5|chromosome 5 ring|Ring chromosome type 5|Ring 5|rose cluster 5 UMLS:C4050064|ICD10:Q93.2|NCIT:C121984|Orphanet:251043|SCTID:765487008|GARD:0010841 https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5 owl:Class GO:0051271 biolink:NamedThing negative regulation of cellular component movement Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular component motion owl:Class MONDO:0002941 biolink:NamedThing anal margin carcinoma A carcinoma that arises from epithelial cells of the perianal skin tmpte7i6ely_mondo_relaxed.owl carcinoma of the anal margin|anal margin cancer|anal margin carcinoma|carcinoma of anal margin|carcinoma of perianal skin|perianal skin carcinoma UMLS:C0349534|SCTID:255084004|DOID:4284|NCIT:C7472 owl:Class UBERON:0014385 biolink:NamedThing aryepiglottic fold tmpte7i6ely_mondo_relaxed.owl owl:Class SO:1000037 biolink:NamedThing chromosomal_duplication An extra chromosome. tmpte7i6ely_mondo_relaxed.owl chromosomal duplication|(fungi)Dp|(Drosophila)Dp owl:Class MONDO:0024543 biolink:NamedThing brittle cornea syndrome 1 Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene. tmpte7i6ely_mondo_relaxed.owl BCS1|Fragilitas oculi with Joint hyperextensibility|brittle cornea syndrome 1|dysgenesis Mesodermalis corneae Et sclerae|ZNF469 brittle cornea syndrome|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|Ehlers-Danlos syndrome, type Vib|brittle cornea syndrome caused by mutation in ZNF469|Ehlers-Danlos syndrome, type Vib, formerly SCTID:31798004|Orphanet:90354|OMIM:229200 owl:Class MONDO:0009242 biolink:NamedThing brittle cornea syndrome Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. tmpte7i6ely_mondo_relaxed.owl brittle cornea syndrome 2|Ehlers-Danlos syndrome type 6b|BCS1|type VIB Ehlers-Danlos syndrome|brittle cornea syndrome 1|kyphoscoliosis type|brittle cornea syndrome type 1|brittle cornea syndrome|Ehlers-Danlos syndrome type 6B (formerly)|EDS VIB (formerly) MESH:C536198|OMIM:614170|UMLS:C0268342|Orphanet:90354|OMIM:229200|OMIMPS:229200|GARD:0001019|ICD10:Q79.6|SCTID:719096006|DOID:14775 https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome owl:Class NCBITaxon:2501931 biolink:NamedThing Orthocoronavirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11118 biolink:NamedThing Coronaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003821 biolink:NamedThing ovarian biphasic or triphasic teratoma A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. tmpte7i6ely_mondo_relaxed.owl ovarian biphasic or triphasic teratoma DOID:6232|UMLS:C1518691|NCIT:C39992 owl:Class MONDO:0005602 biolink:NamedThing ovarian teratoma A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. tmpte7i6ely_mondo_relaxed.owl germ cell teratoma of ovary|teratoma of the ovary|ovarian teratoma|teratoma of ovary|germ cell teratoma of the ovary|ovarian germ cell teratoma UMLS:C0280131|EFO:0006463|NCIT:C8110|SCTID:716077006|DOID:5567 owl:Class MONDO:0017285 biolink:NamedThing penoscrotal transposition Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). tmpte7i6ely_mondo_relaxed.owl penoscrotal transposition (disease)|congenital transposition of the penis|Prepenile scrotum|penoscrotal transposition|congenital penoscrotal transposition penoscrotal transposition (disease) UMLS:C1868854|GARD:0004273|HP:0100600|Orphanet:2842|NCIT:C99010|ICD10:Q55.8|SCTID:312005008|MESH:C536650|MedDRA:10067287 owl:Class FOODON:03400289 biolink:NamedThing USA agency food product type Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0289 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class FOODON:03400361 biolink:NamedThing agency food product type An agency food product type is a class of food product defined by an agency or consortium. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0361 This class is designed to hold 3rd party food classification schemes which are being mapped to FoodOn classes using the 'has member' relation. The two hierarchies are not melded into a subclass polyhierarchy because of possible logical inconsistencies in the agency schemes. The hierarchies of agency schemes are as true to their agency representation as possible. http://langual.org owl:Class UBERON:0005289 biolink:NamedThing tela choroidea of telencephalic ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020754 biolink:NamedThing visceral myopathy tmpte7i6ely_mondo_relaxed.owl megaduodenum and/or megacystis|infantile visceral myopathy|pseudoobstruction, idiopathic intestinal|visceral myopathy|VSCM OMIM:155310 owl:Class HGNC:1500 biolink:NamedThing CASP10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011664 biolink:NamedThing immunodeficiency due to CD25 deficiency tmpte7i6ely_mondo_relaxed.owl CD25 deficiency|immunodeficiency due to CD25 deficiency|Interleukin 2 receptor, alpha, deficiency of|IMD41|IL2RA deficiency|Interleukin-2 receptor alpha chain deficiency|immunodeficiency 41 with lymphoproliferation and autoimmunity Orphanet:169100|ICD10:D81.2|UMLS:C1853392|MESH:C565232|OMIM:606367 owl:Class MONDO:0013865 biolink:NamedThing mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in MTO1|MTO1 combined oxidative phosphorylation deficiency|COXPD10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|combined oxidative phosphorylation deficiency 10|combined oxidative phosphorylation deficiency type 10|combined oxidative phosphorylation defect type 10|mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency UMLS:C3553529|DOID:0111480|Orphanet:314637|OMIM:614702|ICD10:I42.2 owl:Class MONDO:0013523 biolink:NamedThing Nestor-Guillermo progeria syndrome tmpte7i6ely_mondo_relaxed.owl Nestor-Guillermo progeria syndrome|PSCOO|progeria syndrome, childhood-onset, with osteolysis|NGPS UMLS:C3151446|ICD10:E34.8|OMIM:614008|Orphanet:280576|GARD:0011008 https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome owl:Class GO:0060491 biolink:NamedThing regulation of cell projection assembly Any process that modulates the rate, frequency, or extent of cell projection assembly. tmpte7i6ely_mondo_relaxed.owl regulation of cell projection formation owl:Class MONDO:0020129 biolink:NamedThing acquired motor neuron disease An instance of motor neuron disease that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired anterior horn cell disease|acquired motor neuron disease Orphanet:98506|UMLS:CN207019 owl:Class CL:0000831 biolink:NamedThing mast cell progenitor A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. tmpte7i6ely_mondo_relaxed.owl CFU-MC|colony forming unit mast cell|CFU-Mast|MCP MCP are CD16-positive, CD32-positive, CD34-positive, CD45-positive, integrin beta-7-positive, and lin-negative (CD2, CD3e, CD4, CD5, CD8a, CD14, CD19, CD20, CD27, integrin alpha-M, ly6c, ly6g, NCAM-1, and ter119). These cells also express the transcription factors GATA-1, GATA-2, and MITF, but not C/EBPa. cell owl:Class CL:1001516 biolink:NamedThing intestinal enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract. tmpte7i6ely_mondo_relaxed.owl cl owl:Class CHEBI:33340 biolink:NamedThing zinc group element atom tmpte7i6ely_mondo_relaxed.owl zinc group element|group 12 elements|zinc group elements owl:Class MONDO:0010956 biolink:NamedThing enamel hypoplasia, cataracts, and aqueductal stenosis tmpte7i6ely_mondo_relaxed.owl Seow Najjar syndrome|enamel hypoplasia, cataracts, and aqueductal stenosis|enamel hypoplasia, capsular cataracts, and ductal stenosis UMLS:C1833163|MESH:C563430|GARD:0004801|OMIM:600907 owl:Class MONDO:0044762 biolink:NamedThing diarrheal disease secondary to increased bowel motility A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease. tmpte7i6ely_mondo_relaxed.owl motility-related diarrhea|diarrhea from increased bowel motility DOID:0050131 owl:Class MONDO:0000251 biolink:NamedThing diarrheal disease secondary to altered bowel motility A diarrhea that results from either increased or decreased motility in the bowel. tmpte7i6ely_mondo_relaxed.owl motility-related diarrhea|diarrhea secondary to altered bowel motility owl:Class MONDO:0013586 biolink:NamedThing Chitotriosidase deficiency tmpte7i6ely_mondo_relaxed.owl Chitotriosidase deficiency|CHITD|CHITOTRIOSIDASE deficiency 2022-04-01 OMIM:614122|UMLS:C3279902 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class GO:1905504 biolink:NamedThing negative regulation of motile cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly. tmpte7i6ely_mondo_relaxed.owl negative regulation of motile primary cilia assembly|down-regulation of nodal cilium formation|inhibition of motile primary cilium assembly|downregulation of nodal cilium assembly|down regulation of motile primary cilia formation|negative regulation of motile primary cilium formation|down regulation of nodal cilium formation|downregulation of motile primary cilium formation|inhibition of nodal cilium assembly|downregulation of motile primary cilia formation|down regulation of motile primary cilia assembly|negative regulation of motile primary cilia formation|inhibition of nodal cilium formation|down regulation of nodal cilium assembly|down-regulation of motile primary cilia formation|down-regulation of motile primary cilium formation|down-regulation of nodal cilium assembly|down-regulation of motile primary cilium assembly|negative regulation of motile primary cilium assembly|down regulation of motile primary cilium assembly|down-regulation of motile primary cilia assembly|inhibition of motile primary cilia formation|inhibition of motile primary cilia assembly|down regulation of motile primary cilium formation|inhibition of motile primary cilium formation|downregulation of motile primary cilium assembly|negative regulation of nodal cilium assembly|downregulation of motile primary cilia assembly|downregulation of nodal cilium formation|negative regulation of nodal cilium formation owl:Class CL:0002256 biolink:NamedThing supporting cell of carotid body A supportive cell that has characteristics of glial cell. Processes of this cell envelope the junctions between glomus cells and nerve endings. tmpte7i6ely_mondo_relaxed.owl carotid body sustentacular cell FMA:84188 tmeehan 2010-09-08T10:34:45Z cell owl:Class MONDO:0024302 biolink:NamedThing internal hirudiniasis A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx. tmpte7i6ely_mondo_relaxed.owl UMLS:C0348999|SCTID:187227006|ICD10:B83.4 owl:Class MONDO:0044991 biolink:NamedThing upper digestive tract disorder A disease or disorder that involves the upper digestive tract. tmpte7i6ely_mondo_relaxed.owl disorder of upper gastrointestinal tract|disease of upper digestive tract|disorder of upper digestive tract|disease or disorder of upper digestive tract|upper gastrointestinal tract disease|upper digestive tract disease or disorder SCTID:119291004 owl:Class GO:0006449 biolink:NamedThing regulation of translational termination Any process that modulates the frequency, rate or extent of translational termination. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003730 biolink:NamedThing aleukemic leukemia A leukemia characterized by the absence of leukemic cells in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl subleukemic leukemia|aleukemic myelosis|aleukemic leukemia ICD9:208.80|DOID:6004|NCIT:C4982|SCTID:302856006|UMLS:C0877858|DOID:12965 MONDO:0001605 owl:Class MONDO:0004873 biolink:NamedThing internal hemorrhoid A hemorrhoid which originates above the dentate line. tmpte7i6ely_mondo_relaxed.owl internal hemorrhoid ICD9:455.2|NCIT:C35319|DOID:9749|UMLS:C0265034|SCTID:90458007|ICD9:455.6 owl:Class MONDO:0004872 biolink:NamedThing hemorrhoid Dilated veins in the anal canal. tmpte7i6ely_mondo_relaxed.owl hemorrhoid|Hemorrhoids|hemorrhoidal disease ICD10:K64|MESH:D006484|ICD9:455|ICD9:455.8|DOID:9746|NCIT:C26792|UMLS:C0019112|SCTID:70153002 owl:Class MONDO:0004281 biolink:NamedThing vulvar eccrine porocarcinoma An eccrine porocarcinoma that arises from the sweat glands in the vulva. tmpte7i6ely_mondo_relaxed.owl mammalian vulva eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|vulvar eccrine porocarcinoma NCIT:C40306|UMLS:C1520081|DOID:7565 owl:Class UBERON:0004266 biolink:NamedThing upper leg connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008332 biolink:NamedThing pseudo-von Willebrand disease Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. tmpte7i6ely_mondo_relaxed.owl Platelet-type von Willebrand disease|Platelet type-von Willebrand disease|Von Willebrand disease, Platelet-type|von Willebrand disease platelet-type|pseudo-von Willebrand disease|VWDP|platelet type-von Willebrand disease|platelet-type bleeding disorder 3|PT-VWD|BDPLT3|Von Willebrand disease, platelet type|bleeding disorder, Platelet-type, 3|pseudo-von Willebrand disease type 2B|pseudo-VON WILLEBRAND disease OMIM:177820|ICD10:D69.8|GARD:0008312|Orphanet:52530|DOID:0111056|MESH:C536458|NCIT:C131681 Editor note: check relationship to vWD owl:Class GO:0009167 biolink:NamedThing purine ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleoside monophosphate metabolism owl:Class MONDO:0007298 biolink:NamedThing spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia early-onset nonprogressive|ACV|spinocerebellar ataxia 29|spinocerebellar ataxia type 29|congenital nonprogressive spinocerebellar ataxia|aplasia of cerebellar vermis|cerebellar vermis aplasia|SCA29|cerebellar ataxia, congenital nonprogressive, autosomal dominant GARD:0010480|SCTID:715825009|OMIM:117360|UMLS:C4274987|Orphanet:208513|MESH:C537206|ICD10:G11.0|UMLS:C1861732|DOID:0050978 owl:Class GO:0051350 biolink:NamedThing negative regulation of lyase activity Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpte7i6ely_mondo_relaxed.owl down-regulation of lyase activity|inhibition of lyase activity|downregulation of lyase activity|down regulation of lyase activity|lyase inhibitor owl:Class CHEBI:25865 biolink:NamedThing penicillanic acids tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016452 biolink:NamedThing idiopathic hypersomnia without long sleep time Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening. tmpte7i6ely_mondo_relaxed.owl ICD10:F51.1|Orphanet:228318|ICD9:327.12|UMLS:C1561855|ICD10:G47.12|SCTID:442292004 owl:Class MONDO:0018044 biolink:NamedThing idiopathic hypersomnia Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. tmpte7i6ely_mondo_relaxed.owl idiopathic hypersomnolence|primary hypersomnia NCIT:C116343|GARD:0008737|Orphanet:33208|UMLS:C0751757|SCTID:3731000119107|MESH:D020177|ICD10:F51.1 https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia owl:Class MONDO:0010087 biolink:NamedThing Sugarman brachydactyly Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl Sugarman brachydactyly|Sugarman-Hager-Kulik syndrome|brachydactyly with Major proximal phalangeal shortening|brachydactyly of the hands and feet with duplication of the first toes|brachydactyly with major proximal phalangeal shortening DOID:0110979|Orphanet:498602|GARD:0005058|OMIM:272150 https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly owl:Class MONDO:0022781 biolink:NamedThing cleft lip palate-tetraphocomelia tmpte7i6ely_mondo_relaxed.owl GARD:0001383 https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia owl:Class MONDO:0004082 biolink:NamedThing childhood immature teratoma of ovary An immature teratoma that arises from the ovary and occurs in children. tmpte7i6ely_mondo_relaxed.owl childhood immature ovarian teratoma|pediatric immature teratoma of the ovary|childhood immature teratoma of the ovary|immature ovarian teratoma of childhood|pediatric ovarian immature teratoma|pediatric immature teratoma of ovary|childhood ovarian immature teratoma|pediatric immature ovarian teratoma DOID:7037|NCIT:C6547|UMLS:C1332990 owl:Class MONDO:0100312 biolink:NamedThing vestibular ataxia Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007167 biolink:NamedThing atelosteogenesis type I Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. tmpte7i6ely_mondo_relaxed.owl spondylo-humero-femoral dysplasia|atelosteogenesis, type I|giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|AO1|atelosteogenesis, type 1|AOI|atelosteogenesis type 1 SCTID:725141006|GARD:0009287|OMIM:108720|Orphanet:1190|MESH:C535396|ICD10:Q78.8 owl:Class MONDO:0013537 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 29 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 29|deafness, autosomal recessive 29|DFNB29|CLDN14 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 29|autosomal recessive nonsyndromic deafness caused by mutation in CLDN14|autosomal recessive nonsyndromic deafness 29|autosomal recessive nonsyndromic deafness type 29 OMIM:614035|DOID:0110487|Orphanet:90636|UMLS:C3279660|ICD10:H90.3 owl:Class MONDO:0100365 biolink:NamedThing mucopolysaccharidosis or mucopolysaccharidosis-like disorder Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3785 owl:Class MONDO:0043166 biolink:NamedThing pancreatic lipomatosis duodenal stenosis tmpte7i6ely_mondo_relaxed.owl pancreatic lipomatosis and duodenal atresia GARD:0004208|UMLS:C2931040|MESH:C535839 owl:Class GO:0001675 biolink:NamedThing acrosome assembly The formation of the acrosome from the spermatid Golgi. tmpte7i6ely_mondo_relaxed.owl acrosome formation owl:Class GO:0070925 biolink:NamedThing organelle assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2433 biolink:NamedThing CSF1R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033258 biolink:NamedThing hearing loss, autosomal dominant 71 tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 71|deafness, autosomal dominant 71|DFNA71 DOID:0080267|OMIM:617605|Orphanet:90635 owl:Class MONDO:0014887 biolink:NamedThing bone marrow failure syndrome 3 Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene. tmpte7i6ely_mondo_relaxed.owl bone marrow failure syndrome caused by mutation in DNAJC21|bone marrow failure syndrome type 3|bone marrow failure syndrome 3|BMFS3|DNAJC21 bone marrow failure syndrome OMIM:617052|UMLS:C4310744 owl:Class MONDO:0021355 biolink:NamedThing neoplasm of esophagus A neoplasm (disease) that involves the esophagus. tmpte7i6ely_mondo_relaxed.owl tumor of esophagus|esophageal neoplasm|tumor of the esophagus|neoplasm of esophagus|esophageal tumor|esophageal neoplasms, benign and malignant|esophagus neoplasm|esophagus neoplasm (disease)|neoplasm of the esophagus|esophageal tumors|esophagus tumor SCTID:126817006|UMLS:C0014859|NCIT:C3028 owl:Class HP:0000502 biolink:NamedThing Abnormal conjunctiva morphology An abnormality of the conjunctiva. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025847 The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). human_phenotype owl:Class MONDO:0011918 biolink:NamedThing anxiety tmpte7i6ely_mondo_relaxed.owl harm avoidance|anxiety OMIM:607834 owl:Class CL:0010011 biolink:NamedThing cerebral cortex GABAergic interneuron A GABAergic interneuron whose soma is located in the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11103 biolink:NamedThing Hepacivirus C tmpte7i6ely_mondo_relaxed.owl HCV|post-transfusion hepatitis non A non B virus|Hepatitis C virus|human hepatitis virus C HCV|human hepatitis C virus HCV|hepatitis C virus HCV|human hepatitis C virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11102 biolink:NamedThing Hepacivirus tmpte7i6ely_mondo_relaxed.owl Hepatitis C virus group|Hepatitis C viruses|Hepatitis C-like viruses GC_ID:1 ncbi_taxonomy owl:Class GO:0048869 biolink:NamedThing cellular developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013526 biolink:NamedThing progressive myoclonic epilepsy type 6 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene. tmpte7i6ely_mondo_relaxed.owl GOSR2 progressive myoclonic epilepsy|North Sea progressive myoclonus epilepsy|progressive myoclonic epilepsy caused by mutation in GOSR2|EPM6|PME type 6|progressive myoclonus epilepsy type 6|epilepsy, progressive myoclonic, type 6|epilepsy, progressive myoclonic, 6|GOSR2-related progressive myoclonus ataxia Orphanet:280620|OMIM:614018|ICD10:G40.3|DOID:0111449|UMLS:C3279627|GARD:0003872 owl:Class MONDO:0009688 biolink:NamedThing myasthenia gravis Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. tmpte7i6ely_mondo_relaxed.owl myasthenia gravis|acquired myasthenia|MG|autoimmune myasthenia gravis Orphanet:589|OMIM:159400|GARD:0007122|EFO:0004991|OMIM:607085|MedDRA:10028417|NCIT:C60989|ICD10:G70.0|MESH:D009157|ICD10:G70.00|DOID:437|OMIM:254200|UMLS:C0026896|ICD9:358.0|ICD9:358.00|SCTID:91637004 https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis owl:Class MONDO:0021016 biolink:NamedThing channelopathy A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. tmpte7i6ely_mondo_relaxed.owl ion channel activity disease|disorder of ion channel activity UMLS:C1720983|MESH:D053447 owl:Class MONDO:0014950 biolink:NamedThing aortic aneurysm, familial thoracic 10 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial thoracic 10|aortic aneurysm, familial thoracic type 10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX|LOX familial thoracic aortic aneurysm and aortic dissection|AAT10 UMLS:C4284414|OMIM:617168 owl:Class HGNC:30089 biolink:NamedThing PWAR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012661 biolink:NamedThing susceptibility to visceral leishmaniasis, 3 tmpte7i6ely_mondo_relaxed.owl KAZA3|kala-AZAR, susceptibility to, 3|leishmaniasis, visceral, susceptibility to, 3 OMIM:611382 owl:Class MONDO:0005445 biolink:NamedThing visceral leishmaniasis A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. tmpte7i6ely_mondo_relaxed.owl kala-azar|infection by visceral leishmaniasis|viscus leishmaniasis|kala-azar susceptibility|kala-azar, susceptibility to UMLS:C0023290|DOID:9146|EFO:0005045|ICD9:085.0|ICD10:B55.0|OMIMPS:608207|SCTID:186803007|NCIT:C34771|MESH:D007898 Editor note: split out susceptibility/PS owl:Class UBERON:0003426 biolink:NamedThing dermis adipose tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001244 biolink:NamedThing vitamin K deficiency hemorrhagic disease Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. tmpte7i6ely_mondo_relaxed.owl vitamin K deficiency|vitamin K deficiency coagulation disorder|deficiency of vitamin K ICD10:E56.1|NCIT:C99108|DOID:11249|MESH:D014813|UMLS:C0042880|ICD9:269.0|UMLS:C0272348|SCTID:52675005 owl:Class MONDO:0014857 biolink:NamedThing neurodevelopmental disorder with or without anomalies of the brain, eye, or heart tmpte7i6ely_mondo_relaxed.owl rere-related neurodevelopmental syndrome|NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart OMIM:616975|Orphanet:494344|UMLS:C4310772 owl:Class MONDO:0006357 biolink:NamedThing parotid gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpte7i6ely_mondo_relaxed.owl carcinoma ex pleomorphic adenoma of parotid gland|carcinoma ex pleomorphic adenoma of parotid|carcinoma ex pleomorphic adenoma of the parotid gland|parotid gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid|parotid carcinoma ex pleomorphic adenoma UMLS:C1335356|SCTID:425127006|NCIT:C5974|EFO:1000461 owl:Class MONDO:0002472 biolink:NamedThing carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases. tmpte7i6ely_mondo_relaxed.owl carcinoma ex pleomorphic adenoma (morphologic abnormality)|carcinoma ex pleomorphic adenoma|carcinoma in pleomorphic adenoma ICDO:8941/3|NCIT:C4397|UMLS:C0344460 owl:Class NCIT:C15330 biolink:NamedThing Digestive System Surgery tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C49163 biolink:NamedThing Surgical Procedure by Site or System tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006662 biolink:NamedThing aseptic meningitis Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. tmpte7i6ely_mondo_relaxed.owl aseptic meningitis|acute aseptic meningitis MedDRA:10003458|UMLS:C0025290|ICD10:G03.0|EFO:1000823|NCIT:C118299|DOID:12157|SCTID:301770000|MESH:D008582|SCTID:58170007 owl:Class MONDO:0013070 biolink:NamedThing spermatogenic failure 7 tmpte7i6ely_mondo_relaxed.owl Male infertility, nonsyndromic, autosomal recessive|spermatogenic failure 7|spermatogenic failure type 7|SPGF7 Orphanet:276234|UMLS:C2751811|OMIM:612997|DOID:0070173|MESH:C567832 owl:Class MONDO:0018133 biolink:NamedThing attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. tmpte7i6ely_mondo_relaxed.owl attenuated Chediak-Higashi syndrome|atypical Chediak-Higashi syndrome|atypical Chédiak-Higashi syndrome SCTID:720520009|UMLS:CN204519|ICD10:E70.3|Orphanet:352723|UMLS:C4304022 owl:Class UBERON:0003350 biolink:NamedThing epithelium of mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008924 biolink:NamedThing congenital cataract-ichthyosis syndrome Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Syndermotic cataract and congenital ichthyosis|cataract and congenital ichthyosis Orphanet:1376|GARD:0001145|OMIM:212400|MESH:C538281|UMLS:C1859315 owl:Class MONDO:0024537 biolink:NamedThing Brown-Vialetto-van Laere syndrome 1 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene. tmpte7i6ely_mondo_relaxed.owl BVVLS1|SLC52A3 Brown-Vialetto-van Laere syndrome|Brown-Vialetto-Van Laere syndrome 1|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3|Brown-Vialetto-van Laere syndrome 1|bulbar palsy, progressive, with sensorineural deafness|pontobulbar palsy with deafness Orphanet:97229|NCIT:C133724|UMLS:CN029849|OMIM:211530 owl:Class MONDO:0001861 biolink:NamedThing malignant parietal pleura tumor tmpte7i6ely_mondo_relaxed.owl primary malignant neoplasm of parietal pleura DOID:14032|SCTID:93948004|UMLS:C0153495 owl:Class MONDO:0006294 biolink:NamedThing pleural cancer A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site. tmpte7i6ely_mondo_relaxed.owl pleural cancer|pleural tumor|malignant pleural neoplasm|malignant pleural tumor|malignant neoplasm of pleura|cancer of pleura|pleura cancer|neoplasm of pleura|cancer of the pleura|malignant neoplasm of the pleura|malignant pleura neoplasm|malignant tumor of pleura|malignant tumor of the pleura ICD9:163.9|SCTID:126719004|SCTID:363433009|UMLS:C0153494|UMLS:C0032229|ICD10:C38.4|ICD9:163|NCIT:C3547|ICD9:163.8|EFO:1000362|DOID:5158|NCIT:C3332 owl:Class MONDO:0006241 biolink:NamedThing hepatic granuloma A granuloma located in the liver. tmpte7i6ely_mondo_relaxed.owl EFO:1000291|UMLS:C0745754|SCTID:714253009|ICD9:572.8|NCIT:C4936 Editor note: check neoplasm classification owl:Class GO:0044403 biolink:NamedThing biological process involved in symbiotic interaction A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts. tmpte7i6ely_mondo_relaxed.owl symbiotic interaction between organisms|symbiotic process|symbiotic interaction between host and organism|symbiotic interaction|symbiotic interaction between species|commensalism|symbiosis, encompassing mutualism through parasitism|symbiosis|parasitism|host-pathogen interaction owl:Class GO:0044419 biolink:NamedThing biological process involved in interspecies interaction between organisms Any process evolved to enable an interaction with an organism of a different species. tmpte7i6ely_mondo_relaxed.owl interaction with another species|interspecies interaction between organisms|interspecies interaction with other organisms|interspecies interaction owl:Class MONDO:0004481 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma|pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma UMLS:C1518871|DOID:8150|NCIT:C5726|ICDO:8453/3 owl:Class UBERON:0010850 biolink:NamedThing tibia pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007677 biolink:NamedThing hyperglycinuria tmpte7i6ely_mondo_relaxed.owl hyperglycinuria (disease)|hyperglycinuria|Iminoglycinuria type 2|Glycinuria with or without oxalate nephrolithiasis|Glycinuria with or without oxalate urolithiasis hyperglycinuria (disease) OMIM:138500|HP:0003108|UMLS:C0543541|MESH:C563009 owl:Class MONDO:0004919 biolink:NamedThing infected hydrocele tmpte7i6ely_mondo_relaxed.owl ICD10:N43.1|DOID:9911|UMLS:C0156300|ICD9:603.1|SCTID:11666007 owl:Class MONDO:0004920 biolink:NamedThing hydrocele tmpte7i6ely_mondo_relaxed.owl ICD9:603.9|ICD9:603.8|DOID:9912|SCTID:55434001 owl:Class MONDO:0014390 biolink:NamedThing hypotrichosis 13 Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. tmpte7i6ely_mondo_relaxed.owl KRT71 hypotrichosis|hypotrichosis with woolly hair|HYPT13|hypotrichosis caused by mutation in KRT71|hypt13|hypotrichosis 13|hypotrichosis type 13 Orphanet:170|DOID:0110710|OMIM:615896|UMLS:C4014616 owl:Class CHEBI:50248 biolink:NamedThing hematologic agent Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. tmpte7i6ely_mondo_relaxed.owl hematologic agents owl:Class CHEBI:78298 biolink:NamedThing environmental contaminant Any minor or unwanted substance introduced into the environment that can have undesired effects. tmpte7i6ely_mondo_relaxed.owl environmental contaminants owl:Class MONDO:0016071 biolink:NamedThing juvenile hyaline fibromatosis Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. tmpte7i6ely_mondo_relaxed.owl Puretic syndrome|Molluscum fibrosum|mesenchymal dysplasia|Murray-Puretic-Drescher syndrome ICD9:733.29|SCTID:238861002|Orphanet:2028|OMIM:228600|UMLS:C2745948|ICD10:M72.8|NCIT:C98297 owl:Class MONDO:0013358 biolink:NamedThing Seckel syndrome 4 Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene. tmpte7i6ely_mondo_relaxed.owl Seckel syndrome 4|SCKL4|Seckel syndrome caused by mutation in CENPJ|CENPJ Seckel syndrome|Seckel syndrome type 4 Orphanet:808|UMLS:C3888212|OMIM:613676|DOID:0070010 owl:Class NCBITaxon:131567 biolink:NamedThing cellular organisms tmpte7i6ely_mondo_relaxed.owl biota GC_ID:1 ncbi_taxonomy owl:Class GO:0046928 biolink:NamedThing regulation of neurotransmitter secretion Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018144 biolink:NamedThing congenital myasthenic syndromes with glycosylation defect tmpte7i6ely_mondo_relaxed.owl OMIM:614750|OMIM:616228|OMIM:616227|Orphanet:353327|OMIM:610542|ICD10:G70.2 owl:Class UBERON:8400023 biolink:NamedThing liver subserosa tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50177 biolink:NamedThing dermatologic drug A drug used to treat or prevent skin disorders or for the routine care of skin. tmpte7i6ely_mondo_relaxed.owl dermatological agent|dermatologic agent|dermatologic drugs owl:Class MONDO:0007353 biolink:NamedThing coloboma of macula-brachydactyly type B syndrome Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner. tmpte7i6ely_mondo_relaxed.owl Sorsby syndrome|apical dystrophy|coloboma of macula with type B brachydactyly GARD:0001437|Orphanet:1471|OMIM:120400|SCTID:717785002|UMLS:C1852752|ICD10:Q87.1|MESH:C535969 owl:Class GO:1903580 biolink:NamedThing positive regulation of ATP metabolic process Any process that activates or increases the frequency, rate or extent of ATP metabolic process. tmpte7i6ely_mondo_relaxed.owl up-regulation of ATP metabolism|up regulation of ATP metabolic process|activation of ATP metabolism|up-regulation of ATP metabolic process|positive regulation of ATP metabolism|up regulation of ATP metabolism|upregulation of ATP metabolic process|activation of ATP metabolic process|upregulation of ATP metabolism owl:Class GO:0005979 biolink:NamedThing regulation of glycogen biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpte7i6ely_mondo_relaxed.owl regulation of glycogen biosynthesis|regulation of glycogen anabolism|regulation of glycogen synthesis|regulation of glycogen formation owl:Class GO:0010962 biolink:NamedThing regulation of glucan biosynthetic process Any process that modulates the rate, frequency, or extent of glucan biosynthesis. Glucan biosynthetic processes are the chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010470 biolink:NamedThing regulation of gastrulation Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024417 biolink:NamedThing perceptual disorders Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. tmpte7i6ely_mondo_relaxed.owl MESH:D010468 owl:Class UBERON:0008811 biolink:NamedThing intromittent organ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902742 biolink:NamedThing apoptotic process involved in development Any apoptotic process that is involved in anatomical structure development. tmpte7i6ely_mondo_relaxed.owl apoptosis activator activity involved in development of an anatomical structure|apoptotic programmed cell death involved in anatomical structure development|type I programmed cell death involved in anatomical structure development|apoptosis activator activity involved in anatomical structure development|apoptotic cell death involved in anatomical structure development|commitment to apoptosis involved in development of an anatomical structure|signaling (initiator) caspase activity involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic process involved in development of an anatomical structure|apoptosis signaling involved in development of an anatomical structure|programmed cell death by apoptosis involved in development of an anatomical structure|induction of apoptosis involved in development of an anatomical structure|apoptotic program involved in anatomical structure development|commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|apoptotic process involved in anatomical structure development|apoptosis involved in anatomical structure development|induction of apoptosis by p53 involved in anatomical structure development|apoptotic program involved in development of an anatomical structure|induction of apoptosis involved in anatomical structure development|induction of apoptosis by p53 involved in development of an anatomical structure|apoptosis signaling involved in anatomical structure development|apoptosis involved in development of an anatomical structure|programmed cell death by apoptosis involved in anatomical structure development|signaling (initiator) caspase activity involved in development of an anatomical structure|type I programmed cell death involved in development of an anatomical structure|activation of apoptosis involved in anatomical structure development|apoptotic cell death involved in development of an anatomical structure owl:Class MONDO:0004017 biolink:NamedThing pineal region immature teratoma tmpte7i6ely_mondo_relaxed.owl pineal area immature teratoma|atypical pineal teratoma|immature teratoma of the pineal area|immature teratoma of the pineal region|immature teratoma of pineal area|immature teratoma of pineal region DOID:6858|UMLS:C1335416|NCIT:C6755 owl:Class MONDO:0024746 biolink:NamedThing immature teratoma A teratoma composed of immature, fetal-type tissues. tmpte7i6ely_mondo_relaxed.owl immature teratoma|malignant teratoma|teratoma, malignant NCIT:C4286|ICDO:9080/3 owl:Class HGNC:14244 biolink:NamedThing RAB18 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048469 biolink:NamedThing cell maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. tmpte7i6ely_mondo_relaxed.owl functional differentiation owl:Class MONDO:0018511 biolink:NamedThing epithelial tumor of the appendix A epithelial neoplasm that involves the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl vermiform appendix epithelial neoplasm|appendiceal epithelial tumor UMLS:CN237516|Orphanet:423982 owl:Class UBERON:0001901 biolink:NamedThing epithelium of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044795 biolink:NamedThing epithelioid cell nevus A nevus characterized by the presence of large epithelioid melanocytes. tmpte7i6ely_mondo_relaxed.owl epithelioid cell nevus NCIT:C66757|UMLS:C0259820 owl:Class MONDO:0044793 biolink:NamedThing spitz nevus A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis. tmpte7i6ely_mondo_relaxed.owl spitz nevi|juvenile nevus|spitz naevus|spitz nevus|spindle and/ or epithelioid cell Nevus|benign juvenile melanoma NCIT:C27007|GARD:0010412|ICDO:8770/0 owl:Class MONDO:0012213 biolink:NamedThing hereditary spastic paraplegia 26 A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 26|autosomal recessive spastic paraplegia 26|autosomal recessive spastic paraplegia type 26|spastic paraplegia 26, autosomal recessive|GM2 synthase deficiency|SPG26|hereditary spastic paraplegia type 26 Orphanet:101006|DOID:0110777|SCTID:726607007|ICD10:G11.4|MESH:C536862|UMLS:C4511959|OMIM:609195|UMLS:C1836632|GARD:0009587 owl:Class MONDO:0008511 biolink:NamedThing proximal symphalangism Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. tmpte7i6ely_mondo_relaxed.owl Cushing's symphalangism|hereditary absence of the proximal interphalangeal joints|vessel’s syndrome|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|symphalangism, Cushing type|proximal symphalangism|Strasburger-Hawkins-Eldridge syndrome|hereditary absence of proximal interphalangeal joints|proximal symphalangism (disease) proximal symphalangism (disease) GARD:0008182|HP:0100264|KEGG:H00484|OMIMPS:185800|ICD10:Q70.9|Orphanet:3250|DOID:0050788|OMIM:615298|MESH:C536223|UMLS:C1861385|OMIM:185800 owl:Class MONDO:0008760 biolink:NamedThing beta-ketothiolase deficiency Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. tmpte7i6ely_mondo_relaxed.owl 2-Methyl-3-hydroxybutyric acidemia|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|mitochondrial acetoacetyl-CoA thiolase deficiency|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|2-methyl-3-hydroxybutyricacidemia|Beta ketothiolase deficiency|mitochondrial acetoacetyl-Coa thiolase deficiency|BKT|3-Ktd deficiency|3-ketothiolase deficiency|Alpha methylacetoacetic aciduria|beta-ketothiolase deficiency|peroxisomal thiolase deficiency|Mat deficiency|alpha-methylacetoaceticaciduria|3-oxothiolase deficiency|ALPHA-methylacetoacetic aciduria|T2 deficiency Orphanet:134|DOID:14723|OMIM:203750|ICD10:E71.1|GARD:0000872|NCIT:C98841|MESH:C535434 owl:Class MONDO:0009496 biolink:NamedThing Kniest-like dysplasia with pursed lips and ectopia lentis tmpte7i6ely_mondo_relaxed.owl burton syndrome|Kniest-like dysplasia with pursed lips and ectopia lentis UMLS:C1855606|GARD:0010512|OMIM:245160 owl:Class MONDO:0012554 biolink:NamedThing cerebrooculofacioskeletal syndrome 4 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene. tmpte7i6ely_mondo_relaxed.owl cerebrooculofacioskeletal syndrome type 4|COFS4|COFS syndrome caused by mutation in ERCC1|ERCC1 COFS syndrome|cerebrooculofacioskeletal syndrome 4 UMLS:C1853100|NCIT:C173104|Orphanet:191|OMIM:610758|Orphanet:1466|MESH:C565184 owl:Class MONDO:0012882 biolink:NamedThing major affective disorder 9 tmpte7i6ely_mondo_relaxed.owl bipolar affective disorder|major affective disorder 9|MAFD9|MAJOR affective disorder 9 MESH:C567531|OMIM:612372 owl:Class GO:0045901 biolink:NamedThing positive regulation of translational elongation Any process that activates or increases the frequency, rate or extent of translational elongation. tmpte7i6ely_mondo_relaxed.owl upregulation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|up-regulation of translational elongation|activation of translational elongation owl:Class GO:0006448 biolink:NamedThing regulation of translational elongation Any process that modulates the frequency, rate, extent or accuracy of translational elongation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016845 biolink:NamedThing 21q22.11q22.12 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl Del(21)(q22.11q22.12)|21q22.11-q22.12 microdeletion syndrome|monosomy 21q22.11-q22.12|monosomy 21q22.11q22.12 UMLS:CN202185|Orphanet:261323|ICD10:Q93.5 owl:Class MONDO:0016919 biolink:NamedThing partial deletion of the long arm of chromosome 21 tmpte7i6ely_mondo_relaxed.owl partial deletion of the long arm of chromosome type 21|partial monosomy of chromosome 21q|partial deletion of chromosome 21q|partial monosomy of the long arm of chromosome 21 ICD10:Q93.5|Orphanet:262173 owl:Class HP:0100606 biolink:NamedThing Neoplasm of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system. tmpte7i6ely_mondo_relaxed.owl Respiratory system tumour|Respiratory system tumor SNOMEDCT_US:448708002|SNOMEDCT_US:126667002|MSH:D012142|UMLS:C0035244|NCIT:C3262 doelkens 2010-12-27T06:08:41Z human_phenotype owl:Class MONDO:0002318 biolink:NamedThing trachea leiomyoma A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of the trachea|trachea leiomyoma|trachea neoplasm|tracheal tumor|tracheal leiomyoma|tracheal neoplasm|leiomyoma of trachea SCTID:126703006|UMLS:C1336772|NCIT:C3419|DOID:248|NCIT:C6049 owl:Class MONDO:0004020 biolink:NamedThing mediastinal gray zone lymphoma A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities. tmpte7i6ely_mondo_relaxed.owl mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal Gray zone lymphoma UMLS:C1334657|DOID:6867|NCIT:C37870 owl:Class MONDO:0100110 biolink:NamedThing adenovirus renal infection tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:4452 biolink:NamedThing GPC4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003990 biolink:NamedThing malignant breast myoepithelioma An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported. tmpte7i6ely_mondo_relaxed.owl malignant breast myoepithelioma|breast myoepithelial carcinoma|breast malignant myoepithelioma NCIT:C40395|UMLS:C1518167|DOID:6776 owl:Class MONDO:0007536 biolink:NamedThing congenital lobar emphysema Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. tmpte7i6ely_mondo_relaxed.owl infantile lobar hyperinflation|congenital lobar hyperinflation|emphysema, congenital lobar|CLE MESH:C535735|NCIT:C98895|GARD:0002104|UMLS:C0265797|Orphanet:1928|MedDRA:10010456|OMIM:130710|ICD10:Q33.8|SCTID:66987001 owl:Class MONDO:0016613 biolink:NamedThing APC-related attenuated familial adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl APC-related attenuated familial polyposis coli|APC-related attenuated FAP|APC-related AFAP|APC-related attenuated familial adenomatous polyposis OMIM:175100|ICD10:D12.6|UMLS:CN201818|Orphanet:247806 Editor note: TODO add gene owl:Class MONDO:0044784 biolink:NamedThing myxoma A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation. tmpte7i6ely_mondo_relaxed.owl Myxoma|MYXOMA, BENIGN NCIT:C6577|SCTID:404082003|ONCOTREE:MYXO owl:Class MONDO:0044335 biolink:NamedThing benign soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. tmpte7i6ely_mondo_relaxed.owl benign soft tissue neoplasm|benign neoplasm of the soft tissue|benign tumor of soft tissue|benign neoplasm of soft tissue|benign soft tissue tumor|benign tumor of the soft tissue|soft tissue neoplasm, benign UMLS:C0334450|NCIT:C4242|ICDO:8800/0|SCTID:92069005 owl:Class MONDO:0008007 biolink:NamedThing tooth ankylosis Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. tmpte7i6ely_mondo_relaxed.owl abnormal fusion of dental cementum with alveolar bone|molar 1 reinclusion|ankylosis (disease) of calcareous tooth|dental ankylosis|calcareous tooth ankylosis (disease)|secondary retention of permanent molars|ankylosis of tooth|ankylosis of teeth|permanent molars, secondary retention OF|molar I reinclusion ICD9:521.6|Orphanet:1077|MedDRA:10044019|DOID:12661|SCTID:14901003|MESH:D020254|OMIM:157950|GARD:0000701|ICD10:K03.5|EFO:1001215|UMLS:C0155930 owl:Class MONDO:0002257 biolink:NamedThing ankylosis Fixation and immobility of a joint. tmpte7i6ely_mondo_relaxed.owl ankylosis|ankylosis (disease) ankylosis (disease) SCTID:111227009|ICD9:718.50|ICD10:M24.6|HP:0031013|MESH:D000844|ICD9:718.5|DOID:227 owl:Class MONDO:0003643 biolink:NamedThing giant hemangioma A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. tmpte7i6ely_mondo_relaxed.owl giant hemangioma UMLS:C1333817|NCIT:C27777|DOID:5774 owl:Class MONDO:0014821 biolink:NamedThing complex lethal osteochondrodysplasia tmpte7i6ely_mondo_relaxed.owl osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type|OCLSBG|osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type|Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type Orphanet:457378|OMIM:616897|ICD10:Q78.8|UMLS:C4225162 owl:Class MONDO:0004026 biolink:NamedThing skin tag A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction. tmpte7i6ely_mondo_relaxed.owl cutaneous tag|acrochordon|cutaneous fibroepithelial polyp|fibroepithelial polyp of the skin|fibroma molle|fibroepithelial polyp|soft fibroma|fibroepithelial polyp of skin SCTID:201091002|NCIT:C3374|UMLS:C0037293|DOID:6873 owl:Class MONDO:0060765 biolink:NamedThing fibroepithelial polyp A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp. tmpte7i6ely_mondo_relaxed.owl fibropapilloma, benign|fibroepithelial polyp NCIT:C3337 owl:Class MONDO:0009990 biolink:NamedThing Revesz syndrome Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. tmpte7i6ely_mondo_relaxed.owl retinopathy-anemia-central nervous system anomalies syndrome|Revesz syndrome|dyskeratosis congenita, autosomal dominant 5|Revesz-DeBuse syndrome|DKCA5|exudative retinopathy with bone marrow failure|dyskeratosis congenita with bilateral exudative retinopathy MESH:C538371|NCIT:C152064|OMIM:268130|DOID:0070026|UMLS:C1327916|Orphanet:3088|SCTID:723512008|GARD:0004695 https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome owl:Class HGNC:8729 biolink:NamedThing PCNA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010193 biolink:NamedThing Weaver syndrome Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. tmpte7i6ely_mondo_relaxed.owl WVS|overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|camptodactyly - overgrowth - unusual facies|Weaver Williams syndrome|Weaver Smith syndrome|Weaver like syndrome|Weaver-Smith syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|Weaver-like syndrome|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|EZH2 related overgrowth|WEAVER syndrome|Weaver syndrome|camptodactyly-overgrowth-unusual facies syndrome|WEAVER-like syndrome Orphanet:3447|GTR:AN0102079|ICD9:759.89|ICD10:Q87.3|GTR:AN0102080|UMLS:C0265210|MESH:C536687|UMLS:CN036342|SCTID:63119004|OMIM:277590|NCIT:C125599|GARD:0007878|DOID:14731 owl:Class OBO:CHR_9606-chr1q2 biolink:NamedThing 1q2 (Human) tmpte7i6ely_mondo_relaxed.owl 185800000 143200000 hg38 owl:Class NCBITaxon:140564 biolink:NamedThing Ornithodoros parkeri tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6937 biolink:NamedThing Ornithodoros tmpte7i6ely_mondo_relaxed.owl Alectorobius|relapsing fever ticks GC_ID:1 NCBITaxon:352063 ncbi_taxonomy owl:Class MONDO:0001198 biolink:NamedThing acquired thrombocytopenia An instance of thrombocytopenia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired thrombocytopenia|secondary thrombocytopenia UMLS:C0154301|ICD9:287.4|DOID:11126|ICD10:D69.5|SCTID:74576004 owl:Class MONDO:0008738 biolink:NamedThing aganglionosis, total intestinal A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl total intestinal aganglionosis|aganglionosis, total intestinal OMIM:202550|NCIT:C101074 owl:Class MONDO:0018429 biolink:NamedThing 14q24.1q24.3 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl Del(14)(q24.1q24.3)|monosomy 14q24.1q24.3 UMLS:CN226142|Orphanet:401935|ICD10:Q93.5 owl:Class MONDO:0012725 biolink:NamedThing lipoprotein glomerulopathy tmpte7i6ely_mondo_relaxed.owl lipoprotein glomerulopathy|LPG ICD9:593.89|SCTID:446923008|Orphanet:329481|MESH:C567089|ICD10:N07.8|ICD9:272.8|OMIM:611771|UMLS:C2673196 owl:Class MONDO:0009445 biolink:NamedThing ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. tmpte7i6ely_mondo_relaxed.owl Dykes Markes Harper syndrome|Dykes-Markes-Harper syndrome|Dykes-Marks-Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration SCTID:403779009|MESH:C535727|UMLS:C1275088|Orphanet:2274|ICD10:Q87.8|ICD9:571.8|GARD:0001993|OMIM:242520 owl:Class HGNC:18884 biolink:NamedThing TDP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044997 biolink:NamedThing midbrain disorder A disease or disorder that involves the midbrain. tmpte7i6ely_mondo_relaxed.owl disease or disorder of midbrain|disorder of midbrain|midbrain disease or disorder|disease of midbrain|midbrain disease UMLS:C0521655|SCTID:95641009 owl:Class MONDO:0021726 biolink:NamedThing abdominal cystic lymphangioma Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.. tmpte7i6ely_mondo_relaxed.owl retroperitoneal cystic lymphangioma|abdomen cystic lymphangioma|RCL|abdominal retroperitoneal lymphangioma GARD:0000439|MESH:C535553|UMLS:C2930929 https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma owl:Class GO:0016814 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016810 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. tmpte7i6ely_mondo_relaxed.owl hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds owl:Class MONDO:0024331 biolink:NamedThing colorectal carcinoma A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. tmpte7i6ely_mondo_relaxed.owl carcinoma of the large bowel|carcinoma of large intestine|carcinoma of large bowel|carcinoma of colorectum|colorectal cancer|cancer of large intestine|large intestine carcinoma|large bowel carcinoma|CRC|colorectal (colon or rectal) cancer|colorectum carcinoma|colorectal carcinoma|large bowel cancer|cancer of the large bowel|large intestine cancer|cancer of large bowel|carcinoma of the large intestine|cancer of the large intestine NCIT:C2955|DOID:0080199|UMLS:CN221574 owl:Class MONDO:0009402 biolink:NamedThing acrofrontofacionasal dysostosis 2 A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. tmpte7i6ely_mondo_relaxed.owl hypertelorism hypospadias polysyndactyly syndrome|Naguib syndrome|acrofrontofacionasal dysostosis 2|hypertelorism-hypospadias-polysyndactyly syndrome|acrofrontofacionasal dysostosis, severe|hypertelorism, hypospadias, and polysyndactyly syndrome|acrofrontofacionasal dysostosis with genitourinary anomalies|acrofrontofacionasal dysostosis type 2|Naguib-Richieri-Costa syndrome|AFFN dysostosis 2|acrofrontofacionasal syndrome type 2 GARD:0000287|MESH:C538332|Orphanet:2211|SCTID:721835008|OMIM:239710|ICD10:Q87.8 owl:Class GO:0120189 biolink:NamedThing positive regulation of bile acid secretion Any process that activates or increases the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002972 biolink:NamedThing posterior mediastinum cancer A malignant neoplasm involving the posterior mediastinum. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of posterior mediastinum|cancer of posterior mediastinum|malignant posterior mediastinum neoplasm|posterior mediastinum cancer ICD10:C38.2|DOID:436|UMLS:C0153502|ICD9:164.3|SCTID:448670003 owl:Class MONDO:0010673 biolink:NamedThing modifier, X-linked, for Neurofunctional defects tmpte7i6ely_mondo_relaxed.owl modifier, X-linked, for Neurofunctional defects|Tourette syndrome, modifier of OMIM:309840|MESH:C564098|UMLS:C1839708 owl:Class MONDO:0044633 biolink:NamedThing idiopathic pleuroparenchymal fibroelastosis tmpte7i6ely_mondo_relaxed.owl idiopathic pleuropulmonary fibroelastosis|IPPFE Orphanet:494428 owl:Class UBERON:0004801 biolink:NamedThing cervix epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018791 biolink:NamedThing Moyomoya angiopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:477768 owl:Class UBERON:0015041 biolink:NamedThing pedal digit 5 metatarsal endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003294 biolink:NamedThing pericardium leiomyoma A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of pericardium|pericardial leiomyoma|pericardium leiomyoma|leiomyoma of the pericardium NCIT:C6743|DOID:5137|UMLS:C1335380 owl:Class GO:0007036 biolink:NamedThing vacuolar calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010049 biolink:NamedThing spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma intellectual disability|spastic paresis glaucoma mental retardation|spastic paresis, glaucoma, and intellectual disability UMLS:C1849113|Orphanet:2818|MESH:C564809|GARD:0004931|OMIM:270850 owl:Class MONDO:0026726 biolink:NamedThing nephrotic syndrome, type 20 tmpte7i6ely_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 20|NPHS20 DOID:0070357|OMIM:301028 owl:Class MONDO:0006043 biolink:NamedThing metaplastic breast carcinoma A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells. tmpte7i6ely_mondo_relaxed.owl breast metaplastic carcinoma|metaplastic carcinoma of breast|metaplastic breast cancer|metaplastic breast carcinoma|metaplastic carcinoma of the breast ICD10:C50.5|ICD10:C50.0|Orphanet:213531|ONCOTREE:MBC|ICD10:C50.8|ICD10:C50.1|ICD10:C50.6|ICD10:C50.4|GARD:0010804|SCTID:763479005|EFO:1000040|ICD10:C50.3|UMLS:C1334708|DOID:4680|NCIT:C5164|ICD10:C50.2 owl:Class IAO:8000015 biolink:NamedThing template generated ontology module An ontology module that is automatically generated from a template specification and fillers for slots in that template. tmpte7i6ely_mondo_relaxed.owl template generated ontology module owl:Class IAO:8000014 biolink:NamedThing generated ontology module An ontology module that is automatically generated, for example via a SPARQL query or via template and a CSV. tmpte7i6ely_mondo_relaxed.owl TODO: Add axioms (using PROV-O?) that indicate this is the output-of some reasoning process generated ontology module owl:Class NCBITaxon:327045 biolink:NamedThing Orthoretrovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033043 biolink:NamedThing spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy tmpte7i6ely_mondo_relaxed.owl spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy|spastic ataxia 8|SPAX8 OMIM:617560|Orphanet:527497|DOID:0080252|UMLS:C4479653 owl:Class MONDO:0032707 biolink:NamedThing turnpenny-fry syndrome tmpte7i6ely_mondo_relaxed.owl Neurocardioskeletal Syndrome|TPFS|TURNPENNY-FRY SYNDROME OMIM:618371 owl:Class MONDO:0020651 biolink:NamedThing mixed germ cell tumor of vulva tmpte7i6ely_mondo_relaxed.owl ONCOTREE:VMGCT owl:Class MONDO:0007405 biolink:NamedThing Crouzon syndrome Crouzon disease is characterized by craniosynostosis and facial hypoplasia. tmpte7i6ely_mondo_relaxed.owl craniofacial dysostosis, type 1|craniofacial dysostosis|Cfd1|craniofacial dysostosis type 1|Crouzon's disease|Crouzon syndrome|Crouzon craniofacial dysostosis|Crouzon disease ICD10:Q75.1|GARD:0006206|MESH:D003394|UMLS:CN200892|NCIT:C84653|OMIM:123500|DOID:2339|Orphanet:207|SCTID:28861008 https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome owl:Class ENVO:01001476 biolink:NamedThing body of liquid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000379 biolink:NamedThing malignant Sertoli-Leydig cell tumor A malignant form of Sertoli-leydig cell tumor. tmpte7i6ely_mondo_relaxed.owl Sertoli-Leydig cell tumor, malignant DOID:0050618 owl:Class MONDO:0002479 biolink:NamedThing Sertoli-Leydig cell tumor A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. tmpte7i6ely_mondo_relaxed.owl DOID:2997|UMLS:C0206723|MESH:D018310|GARD:0009967|ONCOTREE:SLCT owl:Class MONDO:0043077 biolink:NamedThing weinstein kliman scully syndrome tmpte7i6ely_mondo_relaxed.owl primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities|cardiomyopathy, hypogonadism and metabolic anomalies MESH:C536688|GARD:0000392|UMLS:C2931289 owl:Class GO:0006974 biolink:NamedThing cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. tmpte7i6ely_mondo_relaxed.owl DNA damage response|cellular DNA damage response|response to DNA damage stimulus|response to genotoxic stress owl:Class MONDO:0007572 biolink:NamedThing primary familial polycythemia due to EPO receptor mutation Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. tmpte7i6ely_mondo_relaxed.owl familial erythrocytosis type 1|autosomal dominant benign erythrocytosis|congenital polycythemia due to erythropoietin receptor mutation|erythrocytosis familial, 1|familial polycythemia caused by mutation in EPOR|erythrocytosis, autosomal dominant benign|PFCP|erythrocytosis autosomal dominant benign|EPOR familial polycythemia|familial erythrocytosis, 1|erythrocytosis, familial, type 1|erythrocytosis, familial, 1|ECYT1|primary familial and congenital polycythemia|congenital erythrocytosis due to erythropoietin receptor mutation|polycythemia, primary familial and congenital|familial erythrocytosis 1|familial erythrocytosis|primary congenital erythrocytosis|primary familial polycythemia GARD:0009843|Orphanet:90042|OMIM:133100|ICD10:D75.0|ICD9:289.6|DOID:0060652|SCTID:17342003 Editor note: check relation to familial polycythemia https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 owl:Class MONDO:0013269 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 91 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 91|deafness, autosomal recessive type 91|deafness, autosomal recessive 91|DFNB91|autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6|SERPINB6 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 91|autosomal recessive nonsyndromic deafness type 91 ICD10:H90.3|DOID:0110536|OMIM:613453|UMLS:C3150704 owl:Class MONDO:0004666 biolink:NamedThing metagonimiasis An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. tmpte7i6ely_mondo_relaxed.owl Metagonimus yokogawai infection|infection by Metagonimus yokogawai|infections, Metagonimus yokogawai SCTID:37832003|NCIT:C128390|ICD10:B66.8|UMLS:C0025530|ICD9:121.5|DOID:884|GARD:0009745 https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis owl:Class UBERON:0001418 biolink:NamedThing skin of thorax tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001085 biolink:NamedThing skin of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25522 biolink:NamedThing WRAP53 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009712 biolink:NamedThing congenital multicore myopathy with external ophthalmoplegia An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity. tmpte7i6ely_mondo_relaxed.owl minicore myopathy, antenatal onset, with arthrogryposis|minicore myopathy|multiminicore myopathy multicore myopathy with external ophthalmoplegia|multicore myopathy with external ophthalmoplegia|multiminicore disease with external ophthalmoplegia|multicore myopathy|minicore myopathy with external ophthalmoplegia Orphanet:98905|GARD:0010316|NCIT:C150608|OMIM:255320|ICD10:G71.2|Orphanet:598|UMLS:C1850674 owl:Class MONDO:0008444 biolink:NamedThing spastic paraplegia, optic atrophy, and dementia tmpte7i6ely_mondo_relaxed.owl spastic paraplegia, optic atrophy, and dementia OMIM:182830|UMLS:C1866849|MESH:C566679 owl:Class MONDO:0012511 biolink:NamedThing preterm premature rupture of the membranes A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. tmpte7i6ely_mondo_relaxed.owl preterm premature rupture of the membranes|PPROM DOID:0111144|MESH:C563032|SCTID:312974005|OMIM:610504|NCIT:C92862 owl:Class MONDO:0021289 biolink:NamedThing carcinoma in situ of cecum A in situ carcinoma that involves the caecum. tmpte7i6ely_mondo_relaxed.owl stage 0 caecum carcinoma|caecum carcinoma in situ|cecum carcinoma in situ aJCC v7|carcinoma in situ of caecum|carcinoma in situ of the cecum|cecum carcinoma in situ|stage 0 cecum carcinoma|caecum in situ carcinoma|cecum carcinoma in situ aJCC v6 UMLS:C0347126|NCIT:C4594|SCTID:92559007 owl:Class UBERON:0036351 biolink:NamedThing wall of brachiocephalic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043114 biolink:NamedThing Landy-Donnai syndrome tmpte7i6ely_mondo_relaxed.owl hydrops, ectrodactyly, syndactyly, duplication of the great toes MESH:C537266|UMLS:C2931460|GARD:0003172 owl:Class MONDO:0005899 biolink:NamedThing parotid disorder A disease involving the parotid gland. tmpte7i6ely_mondo_relaxed.owl disease of parotid gland|parotid gland disease|disorder of parotid gland|disease or disorder of parotid gland|parotid gland disease or disorder MESH:D010305|EFO:0007422|UMLS:C0030579|DOID:10302 owl:Class UBERON:0008823 biolink:NamedThing neural tube derived brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006937 biolink:NamedThing pulpitis Inflammation of the dental pulp. tmpte7i6ely_mondo_relaxed.owl inflammation of dental pulp|dental pulp inflammation ICD9:522.0|UMLS:C0034103|MedDRA:10037463|DOID:11121|EFO:1001139|NCIT:C52595|MESH:D011671|SCTID:32620007|ICD10:K04.0 owl:Class MONDO:0012436 biolink:NamedThing neonatal diabetes mellitus with congenital hypothyroidism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, neonatal, with congenital hypothyroidism|NDH syndrome|neonatal diabetes mellitus with congenital hypothyroidism|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome|Ndh syndrome|NDH UMLS:C1857775|OMIM:610199|DOID:0060638|Orphanet:79118|MESH:C565705 owl:Class MONDO:0030312 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 29 tmpte7i6ely_mondo_relaxed.owl SCAR29|neurodevelopmental disorder with hypotonia and cerebellar ataxia|Barakat-Van Ham-Kaya syndrome|spinocerebellar ataxia, autosomal recessive 29 OMIM:619389 owl:Class MONDO:0015244 biolink:NamedThing autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, autosomal recessive|arca DOID:0050950|UMLS:CN226644|OMIMPS:213200|Orphanet:1172 owl:Class HGNC:10260 biolink:NamedThing RORC tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002419 biolink:NamedThing skin gland tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00002016 biolink:NamedThing sedimentary rock A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:33392 biolink:NamedThing Endopterygota tmpte7i6ely_mondo_relaxed.owl Holometabola GC_ID:1 ncbi_taxonomy owl:Class HGNC:13831 biolink:NamedThing WDR11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032898 biolink:NamedThing spermatogenic failure 43 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 43|SPGF43 OMIM:618751 owl:Class MONDO:0019267 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. tmpte7i6ely_mondo_relaxed.owl vitamin B12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-CoA mutase OMIM:251000|SCTID:237946002|ICD10:E71.1|Orphanet:79312|UMLS:CN205894 owl:Class CL:1001575 biolink:NamedThing uterine cervix squamous cell Squamous cell of uterine cervix epithelium. tmpte7i6ely_mondo_relaxed.owl cervix, uterine squamous epithelial cells|cervix squamous cell|uterine cervix squamous epithelial cells|uterine cervix squamous epithelial cell|cervix squamous epithelial cell CALOHA:TS-1251 owl:Class CL:0002535 biolink:NamedThing epithelial cell of cervix An epithelial cell of the cervix. tmpte7i6ely_mondo_relaxed.owl cervical canal of uterus epithelial cell|epithelial cell of cervical canal of uterus|epithelial cell of uterine cervix|cervical canal epithelial cell|epithelial cell of cervical canal|epithelial cell of neck of uterus|neck of uterus epithelial cell|uterine cervix epithelial cell|cervix of uterus epithelial cell|epithelial cell of cervix of uterus|cervix epithelial cell tmeehan 2011-02-24T08:20:08Z cell owl:Class RO:0002577 biolink:NamedThing system A material entity consisting of multiple components that are causally integrated. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005431 biolink:NamedThing anterior spinal artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11094 biolink:NamedThing SNAI2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003751 biolink:NamedThing childhood germ cell tumor A germ cell tumor that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood germ cell neoplasm|pediatric germ cell cancer|pediatric germ cell tumor|childhood germ cell tumor|germ cell tumor|pediatric germ cell neoplasm UMLS:C0279014|NCIT:C7928|DOID:6053 owl:Class MONDO:0018941 biolink:NamedThing furuncular myiasis Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). tmpte7i6ely_mondo_relaxed.owl furunculous myiasis|furunculoid myiasis UMLS:C2931766|ICD10:B87.0|MESH:C538194|GARD:0002418|Orphanet:591 owl:Class GO:0032774 biolink:NamedThing RNA biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. tmpte7i6ely_mondo_relaxed.owl RNA synthesis|RNA formation|RNA anabolism|RNA biosynthesis owl:Class NCBITaxon:548681 biolink:NamedThing Herpesvirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2731363 biolink:NamedThing Herviviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:46963 biolink:NamedThing 2-aminooctadecene-1,3-diol An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2. tmpte7i6ely_mondo_relaxed.owl 2-aminooctadecene-1,3-diol|2-aminooctadecene-1,3-diols owl:Class CHEBI:22501 biolink:NamedThing aminodiol An amino alcohol having two hydroxy functional groups. tmpte7i6ely_mondo_relaxed.owl aminodiols|amino diols|amino diol owl:Class MONDO:0013457 biolink:NamedThing Leber congenital amaurosis 15 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene. tmpte7i6ely_mondo_relaxed.owl LCA15|Leber congenital amaurosis type 15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis 15|retinitis pigmentosa, juvenile, Tulp1-related|Leber congenital amaurosis caused by mutation in TULP1 GARD:0010884|OMIM:613843|ICD10:H35.5|DOID:0110189|UMLS:C3151206 https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15 owl:Class MONDO:0008711 biolink:NamedThing Goodman syndrome Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. tmpte7i6ely_mondo_relaxed.owl ACPS 4|Goodman camptodactyly|acrocephalopolysyndactyly type IV|Goodman syndrome|ACPS4|acrocephalopolysyndactyly type 4 Orphanet:65798|SCTID:720600004|OMIM:201020|MESH:C537287|GARD:0002549|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome owl:Class MONDO:0018655 biolink:NamedThing hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:E75.2|UMLS:CN237713|Orphanet:447893|OMIM:607694 owl:Class MONDO:0011960 biolink:NamedThing schizophrenia 11 A schizophrenia that has material basis in a mutation on chromosome 10q22.3. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 10Q-related|schizophrenia 11|SCZD11|schizophrenia type 11|Sczd11 DOID:0070087|OMIM:608078|UMLS:C1842605 owl:Class MONDO:0009892 biolink:NamedThing Chuvash polycythemia Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. tmpte7i6ely_mondo_relaxed.owl Chuvash erythrocytosis|ECYT2|autosomal recessive benign erythrocytosis|polycythemia, VHL-dependent|familial polycythemia caused by mutation in VHL|erythrocytosis, familial, type 2|erythrocytosis, familial, 2|Chuvash type polycythemia|Von Hippel-Lindau-dependent polycythemia|Chuvash polycythemia|Chuvash erythromatosis|polycythemia, Chuvash type|familial erythrocytosis 2|erythrocytosis, autosomal recessive benign|VHL familial polycythemia UMLS:C1837915|Orphanet:238557|ICD10:D75.1|OMIM:263400|MESH:C563918|DOID:0060474 owl:Class GO:0045827 biolink:NamedThing negative regulation of isoprenoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpte7i6ely_mondo_relaxed.owl down-regulation of isoprenoid metabolic process|down regulation of isoprenoid metabolic process|negative regulation of isoprenoid metabolism|downregulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process owl:Class MONDO:0019000 biolink:NamedThing perineural cyst Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy. tmpte7i6ely_mondo_relaxed.owl Tarlov cysts|sacral neural cysts|perineural cysts|sacral Tarlov cysts|sacral perineural cysts|Tarlov cyst MESH:D052958|Orphanet:65250|SCTID:81634008|ICD10:G54.8|EFO:1001858|GARD:0009258 owl:Class MONDO:0016999 biolink:NamedThing X chromosome number anomaly tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:263714 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class MONDO:0003901 biolink:NamedThing cerebellar hemangioblastoma A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). tmpte7i6ely_mondo_relaxed.owl hemangioblastoma of the cerebellum|cerebellar capillary hemangioblastoma|hemangioblastoma of cerebellum|cerebellum hemangioblastoma|cerebellar hemangioblastoma|angioblastoma of cerebellum|cerebellar angioblastoma|angioblastoma of the cerebellum UMLS:C1332900|NCIT:C5146|DOID:6500 owl:Class MONDO:0021499 biolink:NamedThing benign neoplasm of cerebellum A benign neoplasm that involves the cerebellum. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the cerebellum|neoplasms, cerebellar, benign|benign cerebellar tumor|cerebellum benign neoplasm|benign tumor of cerebellum|neoplasms, benign, cerebellar|benign cerebellar neoplasm|benign tumor of the cerebellum|cerebellar neoplasms, benign|benign cerebellar neoplasms SCTID:92050000|NCIT:C4955 owl:Class MONDO:0100452 biolink:NamedThing RPE65-related dominant retinopathy A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. tmpte7i6ely_mondo_relaxed.owl dominant RPE65 retinopathy|retinitis pigmentosa 87 with choroidal involvement|RP87 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class GO:0006351 biolink:NamedThing transcription, DNA-templated The cellular synthesis of RNA on a template of DNA. tmpte7i6ely_mondo_relaxed.owl cellular transcription, DNA-dependent|cellular transcription|transcription|transcription regulator activity|DNA-dependent transcription|transcription, DNA-dependent owl:Class GO:0030193 biolink:NamedThing regulation of blood coagulation Any process that modulates the frequency, rate or extent of blood coagulation. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000042 biolink:NamedThing embryonic fibroblast Any fibroblast that is part of a embryo. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-07-09T00:12:00Z cell owl:Class MONDO:0012686 biolink:NamedThing major affective disorder 6 tmpte7i6ely_mondo_relaxed.owl MAFD6|MAJOR affective disorder 6|major affective disorder 6|bipolar affective disorder OMIM:611536|MESH:C567075 owl:Class MONDO:0009366 biolink:NamedThing normal pressure hydrocephalus A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) tmpte7i6ely_mondo_relaxed.owl NPH|hydrocephalus, normal-pressure|chronic adult hydrocephalus|low pressure hydrocephalus MedDRA:10029773|ICD10:G91.2|SCTID:30753002|ICD9:331.5|MESH:D006850|DOID:1572|OMIM:236690|EFO:1001065|Orphanet:314928|UMLS:C0020258 owl:Class MONDO:0002045 biolink:NamedThing communicating hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. tmpte7i6ely_mondo_relaxed.owl non-obstructive hydrocephalus MESH:D006849|ICD10:G91.0|ICD9:331.3|SCTID:271569006|NCIT:C34501|DOID:1573|UMLS:C0009451 owl:Class HP:0001557 biolink:NamedThing Prenatal movement abnormality An abnormality of fetal movement. tmpte7i6ely_mondo_relaxed.owl Abnormal intrauterine movements UMLS:C1849510 Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. HP:0007629 human_phenotype owl:Class HP:0001197 biolink:NamedThing Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. tmpte7i6ely_mondo_relaxed.owl Abnormality of prenatal development or birth UMLS:C4025797 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. human_phenotype owl:Class MONDO:0024482 biolink:NamedThing eccrine sweat gland hamartoma A hamartoma characterized by localized eccrine sweat gland malformation. tmpte7i6ely_mondo_relaxed.owl hamartoma of eccrine sweat gland|eccrine sweat gland hamartoma (disease)|eccrine sweat gland hamartoma|hamartoma of the eccrine sweat gland NCIT:C5564|UMLS:C1333372 owl:Class MONDO:0017090 biolink:NamedThing midline cerebral malformation tmpte7i6ely_mondo_relaxed.owl Midline brain malformation Orphanet:268926|ICD10:Q04.8 owl:Class MONDO:0008843 biolink:NamedThing atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. tmpte7i6ely_mondo_relaxed.owl premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder|Feigenbaum Bergeron Richardson syndrome|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|Feigenbaum-Bergeron-Richardson syndrome SCTID:720519003|GARD:0002279|OMIM:209010|MESH:C565928|Orphanet:1192 owl:Class SO:1000002 biolink:NamedThing substitution A sequence alteration where the length of the change in the variant is the same as that of the reference. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020739 biolink:NamedThing hypercalcemia, infantile, 1 tmpte7i6ely_mondo_relaxed.owl autosomal recessive infantile hypercalcemia 1|HCINF1|hypercalcemia, infantile, 1 OMIM:143880|Orphanet:300547|UMLS:C0268080 owl:Class MONDO:0002705 biolink:NamedThing breast mucinous cystadenocarcinoma An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified. tmpte7i6ely_mondo_relaxed.owl breast mucinous cystadenocarcinoma UMLS:C1511318|DOID:3609|NCIT:C40354 owl:Class MONDO:0019608 biolink:NamedThing 46,XX disorder of sex development induced by maternal-derived androgen tmpte7i6ely_mondo_relaxed.owl 46,XX DSD induced by maternal-derived androgen Orphanet:91144|UMLS:CN227662|ICD10:Q56.2 owl:Class MONDO:0020039 biolink:NamedThing 46,XX disorder of sex development induced by androgens excess tmpte7i6ely_mondo_relaxed.owl 46,XX DSD induced by androgens excess Orphanet:98078|UMLS:CN227738 owl:Class CL:0002623 biolink:NamedThing acinar cell of salivary gland An acinar cell of salivary gland. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-14T02:22:22Z cell owl:Class CL:1001596 biolink:NamedThing salivary gland glandular cell Glandular cell of salivary gland. Example: Serous cells, mucous cells, cuboidal epithelial cells of the intercalated ducts, simple cuboidal epithelium of the striated ducts, epithelial cells of excretory ducts. tmpte7i6ely_mondo_relaxed.owl salivary gland glandular cells CALOHA:TS-1282 owl:Class MONDO:0017209 biolink:NamedThing infectious posterior uveitis tmpte7i6ely_mondo_relaxed.owl ICD10:H20.0|Orphanet:279919 owl:Class HP:0012719 biolink:NamedThing Functional abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl GI dysfunction|Functional abnormality of the GI tract UMLS:C4022755 peter 2014-03-23T01:10:47Z human_phenotype owl:Class MONDO:0007131 biolink:NamedThing anonychia with flexural pigmentation Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl anonychia with flexural pigmentation Orphanet:69125|OMIM:106750|MESH:C566278|UMLS:C1862844 owl:Class MONDO:0003390 biolink:NamedThing glycogen-rich clear cell breast carcinoma An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen. tmpte7i6ely_mondo_relaxed.owl glycogen-rich carcinoma (morphologic abnormality)|Glycogen-rich, clear cell breast carcinoma|glycogen-rich carcinoma DOID:5310|ICDO:8315/3|NCIT:C40368|UMLS:C1512224 https://github.com/monarch-initiative/mondo/issues/3710 owl:Class ENVO:01001110 biolink:NamedThing ecosystem An environmental system which includes both living and non-living components. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001581 biolink:NamedThing decreased contractility A contractility which is relatively low. tmpte7i6ely_mondo_relaxed.owl low contractility owl:Class HGNC:24866 biolink:NamedThing CEP104 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018474 biolink:NamedThing 13q12.3 microdeletion syndrome 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. tmpte7i6ely_mondo_relaxed.owl Del(13)(q12.3)|monosomy 13q12.3 ICD10:Q93.5|Orphanet:412035|UMLS:CN237459 owl:Class MONDO:0006170 biolink:NamedThing conjunctival disorder Any disorder of the conjunctiva. tmpte7i6ely_mondo_relaxed.owl conjunctival disorder|conjunctiva disease|conjunctiva disease or disorder|disorder of conjunctiva|disease or disorder of conjunctiva|conjunctival disease|disease of conjunctiva NCIT:C27605|DOID:4251|EFO:1000203 owl:Class MONDO:0002549 biolink:NamedThing schwannoma of twelfth cranial nerve A schwannoma that involves the hypoglossal nerve. tmpte7i6ely_mondo_relaxed.owl neurilemmoma of twelfth cranial nerve|schwannoma of the hypoglossal nerve|schwannoma of twelfth cranial nerve|schwannoma of hypoglossal nerve|hypoglossal schwannoma|hypoglossal neurilemmoma|twelfth cranial nerve neurilemmoma|hypoglossal nerve neurilemmoma|neurilemmoma of the twelfth cranial nerve|neurilemmoma of the hypoglossal nerve|neurilemmoma of hypoglossal nerve|schwannoma of the twelfth cranial nerve|twelfth cranial nerve schwannoma|hypoglossal nerve schwannoma UMLS:C1335928|NCIT:C5434|DOID:3197 owl:Class MONDO:0001835 biolink:NamedThing facial paralysis Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. tmpte7i6ely_mondo_relaxed.owl facial palsy|palsy of face|face palsy ICD10:G51.0|SCTID:280816001|MESH:D005158|UMLS:C0015469|DOID:13934|NCIT:C26769 owl:Class MONDO:0019402 biolink:NamedThing beta thalassemia Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). tmpte7i6ely_mondo_relaxed.owl erythroblastic anemia|thalassemia major|thalassemia, Hispanic gamma-delta-beta|Thalassemias, beta-|Beta thalassemia minor|Beta thalassemia intermedia GARD:0000871|ICD10:D56.1|DOID:12241|SCTID:65959000|ICD9:282.49|OMIM:613985|MedDRA:10043391|NCIT:C34375|OMIM:187550|ICD9:282.44|MESH:D017086|Orphanet:848|OMIM:603902 owl:Class MONDO:0002101 biolink:NamedThing facial nerve neoplasm A neoplasm involving a facial nerve. tmpte7i6ely_mondo_relaxed.owl seventh cranial nerve neoplasms|neoplasm of facial nerve|seventh cranial nerve tumor|tumor of the Facial nerve|facial nerve tumor|facial nerve neoplasm (disease)|tumor of facial nerve|seventh cranial nerve tumors|neoplasm of the seventh cranial nerve|VIIth cranial nerve tumors|VIIth cranial nerve neoplasms|tumor of Facial nerve|neoplasm of seventh cranial nerve|neoplasm of the Facial nerve|neoplasm of Facial nerve|facial nerve neoplasms|tumor of seventh cranial nerve|facial nerve neoplasm|facial nerve tumors|tumor of the seventh cranial nerve|seventh cranial nerve neoplasm SCTID:126973004|NCIT:C5827|DOID:1760|ICD9:239.7|UMLS:C1263899 owl:Class MONDO:0003061 biolink:NamedThing benign muscle neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. tmpte7i6ely_mondo_relaxed.owl myomatous tumor|muscle tissue neoplasm|benign muscle neoplasm|muscle benign neoplasm|muscle neoplasm|benign neoplasm of muscle|benign neoplasm of the muscle|benign tumor of the muscle|benign tumor of muscle|benign muscle tumor|myoma MESH:D009214|MESH:D009379|DOID:2691|NCIT:C4063|DOID:461|ICD10:D21|NCIT:C4882|ICDO:8895/0 MONDO:0002393 owl:Class MONDO:0017527 biolink:NamedThing polydactyly of an index finger, unilateral tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly type 3, unilateral UMLS:CN203258|Orphanet:295152|ICD10:Q69.0 owl:Class MONDO:0043233 biolink:NamedThing exfoliative dermatitis The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl erythroderma|dermatitis exfoliativa|exfoliative Dermatitides|Dermatitides, exfoliative|Erythrodermas|exfoliative dermatitis GARD:0006393|NCIT:C39646|SCTID:399992009|MESH:D003873|UMLS:C0011606 owl:Class UBERON:0005010 biolink:NamedThing mucosa of neck of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8785 biolink:NamedThing PDE6A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009605 biolink:NamedThing methemoglobinemia type 4 Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene. tmpte7i6ely_mondo_relaxed.owl METAG|methemoglobinemia due to deficiency of cytochrome B5|methemoglobinemia type IV, formerly|isolated 17,20-lyase deficiency, Pure|methemoglobinemia and ambiguous genitalia|methemoglobinemia type 4|CYB5A methemoglobinemia|methemoglobinemia type IV|methemoglobinemia due to deficiency of cytochrome B5, formerly|methemoglobinemia caused by mutation in CYB5A MESH:C567102|OMIM:250790|UMLS:C2673427|Orphanet:621 owl:Class HP:0002797 biolink:NamedThing Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. tmpte7i6ely_mondo_relaxed.owl Increased bone resorption|Osteolytic defects of bones|Breakdown of bone SNOMEDCT_US:30425001|SNOMEDCT_US:203522001|UMLS:C0221204|MSH:D010014 Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. HP:0010737 human_phenotype owl:Class MONDO:0008222 biolink:NamedThing Andersen-Tawil syndrome Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. tmpte7i6ely_mondo_relaxed.owl long QT syndrome type 7|Andersen syndrome|ATS|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|periodic paralysis, Potassium-sensitive cardiodysrhythmic type|Andersen-Tawil syndrome|cardiodysrhythmic potassium-sensitive periodic paralysis|Potassium-sensitive cardiodysrhythmic type|LQT7|long QT syndrome 7|Andersen cardiodysrhythmic periodic paralysis SCTID:422348008|NCIT:C84559|OMIM:170390|DOID:0050434|GARD:0009453|UMLS:C1563715|ICD10:G72.3|ICD9:759.89|Orphanet:37553|MESH:D050030 owl:Class GO:1901569 biolink:NamedThing fatty acid derivative catabolic process The chemical reactions and pathways resulting in the breakdown of fatty acid derivative. tmpte7i6ely_mondo_relaxed.owl fatty acid derivative catabolism|fatty acid derivative degradation|fatty acid derivative breakdown owl:Class GO:1901568 biolink:NamedThing fatty acid derivative metabolic process The chemical reactions and pathways involving fatty acid derivative. tmpte7i6ely_mondo_relaxed.owl fatty acid derivative metabolism owl:Class MONDO:0043352 biolink:NamedThing fournier gangrene An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. tmpte7i6ely_mondo_relaxed.owl Fourniers disease|Fournier disease|fournier's gangrene|Fournier's gangrene|fournier gangrene|Fournier's disease|gangrene, Fournier|gangrene, Fournier's|Fourniers gangrene UMLS:C0238419|GARD:0010912|MESH:D018934|SCTID:398318005 owl:Class MONDO:0005767 biolink:NamedThing gas gangrene A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. tmpte7i6ely_mondo_relaxed.owl myonecrosis|gas bacillus infection|gas gangrene EFO:0007279|SCTID:80466000|ICD9:040.0|ICD10:A48.0|DOID:9159|UMLS:C0017105|MESH:D005738 owl:Class MONDO:0011629 biolink:NamedThing MOGS-CDG MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). tmpte7i6ely_mondo_relaxed.owl CDG IIb|MOGS-CDG (CDG-IIb)|CDG 2B|MOGS-CDG|GCS1-CDG|carbohydrate deficient glycoprotein syndrome type IIb|CDG2B|CDG-IIb|glucosidase 1 deficiency|congenital disorder of glycosylation type 2b|congenital disorder of glycosylation type IIb|CDG syndrome type IIb|congenital disorder of glycosylation, type IIb SCTID:725028009|MESH:C565264|DOID:0070254|OMIM:606056|ICD10:E77.8|UMLS:C1853736|GARD:0010767|Orphanet:79330 owl:Class HGNC:10628 biolink:NamedThing CCL3L1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5500 biolink:NamedThing Coccidioides tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1593277 biolink:NamedThing Onygenales incertae sedis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:34383 ncbi_taxonomy owl:Class GO:0001819 biolink:NamedThing positive regulation of cytokine production Any process that activates or increases the frequency, rate or extent of production of a cytokine. tmpte7i6ely_mondo_relaxed.owl upregulation of cytokine production|positive regulation of cytokine secretion|up-regulation of cytokine production|stimulation of cytokine production|positive regulation of cytokine biosynthetic process|up regulation of cytokine production|activation of cytokine production owl:Class HP:0031097 biolink:NamedThing Abnormal thyroid-stimulating hormone level Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating thyrotropin concentration|Abnormal TSH level|Abnormal thyrotropin level 2017-05-30 02:12:45+00:00 peter human_phenotype owl:Class HP:0012503 biolink:NamedThing Abnormality of the pituitary gland An anomaly of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl disorder of pituitary gland UMLS:C0032002|MSH:D010900|SNOMEDCT_US:399244003 peter 2013-11-30T09:34:21Z human_phenotype owl:Class MONDO:0010745 biolink:NamedThing beta-thalassemia-X-linked thrombocytopenia syndrome Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. tmpte7i6ely_mondo_relaxed.owl thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|X-linked thrombocytopenia with Beta-thalassemia|thrombocytopenia with BETA-thalassemia, X-linked|XLTT SCTID:718196002|Orphanet:231393|OMIM:314050|DOID:0111767|NCIT:C134941|MESH:C564050|UMLS:C1839161|ICD10:D69.4 owl:Class MONDO:0017145 biolink:NamedThing beta-thalassemia and related diseases tmpte7i6ely_mondo_relaxed.owl Orphanet:275749|ICD10:D56.1|UMLS:CN202571 owl:Class MONDO:0018659 biolink:NamedThing partial duplication of the short arm of chromosome 19 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome 19p|partial duplication of the short arm of chromosome type 19|partial trisomy of chromosome 19p|partial trisomy of the short arm of chromosome 19 Orphanet:447985 owl:Class UBERON:0000351 biolink:NamedThing nuchal ligament tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004679 biolink:NamedThing leukoplakia of vagina Leukoplakia of the vagina. tmpte7i6ely_mondo_relaxed.owl vaginal leukoplakia|leukoplakia of the vagina SCTID:111420009|NCIT:C3663|ICD10:N89.4|DOID:8920|ICD9:623.1|UMLS:C0156385 owl:Class MONDO:0043243 biolink:NamedThing leukoplakia A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. tmpte7i6ely_mondo_relaxed.owl leukokeratoses|leukokeratosis|lesions, leukoplakic|leukoplakic lesion|leukoplakic lesions|leukoplakias|keratotic plaque|leukoplakia|lesion, leukoplakic GARD:0006897|SCTID:274134003|NCIT:C3186|MESH:D007971|UMLS:C0023531 owl:Class MONDO:0012673 biolink:NamedThing colorectal cancer, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl CRCS2|colorectal cancer, susceptibility to, 2|colorectal cancer, susceptibility to, on chromosome 8Q24 OMIM:611469 owl:Class MONDO:0006932 biolink:NamedThing pulmonary edema Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). tmpte7i6ely_mondo_relaxed.owl edema, pulmonary NCIT:C26868|SCTID:19242006|MESH:D011654|ICD10:J81.1|DOID:11396|MedDRA:10037375|EFO:1001134|ICD10:J81|UMLS:C0034063 owl:Class MONDO:0020801 biolink:NamedThing rectal medullary carcinoma A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpte7i6ely_mondo_relaxed.owl rectal medullary carcinoma NCIT:C60640 owl:Class MONDO:0020794 biolink:NamedThing colorectal medullary carcinoma A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpte7i6ely_mondo_relaxed.owl colorectal medullary carcinoma NCIT:C43590 owl:Class MONDO:0016980 biolink:NamedThing ATR-X-related syndrome tmpte7i6ely_mondo_relaxed.owl ATR-X-related syndrome UMLS:CN202282|Orphanet:263355 owl:Class GO:0051937 biolink:NamedThing catecholamine transport The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015844 biolink:NamedThing monoamine transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016192 biolink:NamedThing qualitative or quantitative defects of telethonin tmpte7i6ely_mondo_relaxed.owl Orphanet:209056 owl:Class NCBITaxon:92251 biolink:NamedThing Trombiculidae tmpte7i6ely_mondo_relaxed.owl chiggers|harvest mites|redbugs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015419 biolink:NamedThing midline cervical cleft Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia. tmpte7i6ely_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141288|SCTID:403557001|ICD9:744.89 owl:Class MONDO:0015412 biolink:NamedThing median facial cleft tmpte7i6ely_mondo_relaxed.owl Midline facial cleft|Tessier number 0-14 and 30 facial cleft Orphanet:141234|ICD10:Q18.8 owl:Class MONDO:0005168 biolink:NamedThing neoplasm of immature B and T cells A neoplasm arising from immature B and T cells tmpte7i6ely_mondo_relaxed.owl EFO:0002425 owl:Class MONDO:0015006 biolink:NamedThing epidermolysis bullosa simplex 6, generalized, with scarring and hair loss tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex, generalized, with scarring and hair loss|EBSSH|generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss|epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH OMIM:617294|UMLS:C4310631|Orphanet:508529 owl:Class MONDO:0006510 biolink:NamedThing renal tubular transport disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. tmpte7i6ely_mondo_relaxed.owl disorder of renal absorption|kidney tubular transport, inborn errors|kidney tubular transport, inborn error|inborn renal tubular transport disorder|renal absorption disease|renal tubular transport, inborn error|renal tubular transport errors MESH:D015499|DOID:447|UMLS:C0035091|EFO:1000647 owl:Class UBERON:0006846 biolink:NamedThing surface groove tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008343 biolink:NamedThing pulmonary atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. tmpte7i6ely_mondo_relaxed.owl pulmonary valve atresia with ventricular septal defect|pulmonary atresia with ventricular septal defect ICD10:Q25.5|MESH:C562833|OMIM:178370|NCIT:C99033|Orphanet:1207|SCTID:253591008|UMLS:C0344976|GARD:0004588 https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect owl:Class GO:0000963 biolink:NamedThing mitochondrial RNA processing The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000959 biolink:NamedThing mitochondrial RNA metabolic process The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902679 biolink:NamedThing negative regulation of RNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. tmpte7i6ely_mondo_relaxed.owl down regulation of RNA anabolism|negative regulation of RNA anabolism|downregulation of RNA synthesis|down-regulation of RNA formation|down-regulation of RNA synthesis|down-regulation of RNA biosynthesis|inhibition of RNA synthesis|downregulation of RNA formation|negative regulation of RNA synthesis|downregulation of RNA biosynthesis|inhibition of RNA anabolism|down-regulation of RNA biosynthetic process|down regulation of RNA synthesis|downregulation of RNA anabolism|down-regulation of RNA anabolism|negative regulation of RNA biosynthesis|down regulation of RNA formation|inhibition of RNA biosynthetic process|inhibition of RNA biosynthesis|inhibition of RNA formation|downregulation of RNA biosynthetic process|negative regulation of RNA formation|down regulation of RNA biosynthesis|down regulation of RNA biosynthetic process owl:Class GO:0030901 biolink:NamedThing midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). tmpte7i6ely_mondo_relaxed.owl mesencephalon development owl:Class GO:0035930 biolink:NamedThing corticosteroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. tmpte7i6ely_mondo_relaxed.owl corticosteroid secretion owl:Class GO:0035929 biolink:NamedThing steroid hormone secretion The regulated release of any steroid that acts as a hormone into the circulatory system. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:543769 biolink:NamedThing Rhizaria tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:30257078 ncbi_taxonomy owl:Class NCBITaxon:2698737 biolink:NamedThing Sar tmpte7i6ely_mondo_relaxed.owl SAR supergroup GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000399 biolink:NamedThing jejunal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004837 biolink:NamedThing neurofibroma of the esophagus A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpte7i6ely_mondo_relaxed.owl neurofibroma of esophagus|neurofibroma of the esophagus|esophagus neurofibroma|esophageal neurofibroma DOID:961|NCIT:C5704|UMLS:C1333463 owl:Class MONDO:0056804 biolink:NamedThing benign neoplasm of peripheral nervous system tmpte7i6ely_mondo_relaxed.owl DOID:0080320 owl:Class MONDO:0020179 biolink:NamedThing palpebral nevus A melanocytic nevus that involves the skin of eyelid. tmpte7i6ely_mondo_relaxed.owl eyelid nevus|nevus of the eyelid|melanocytic nevus of skin of eyelid|nevus of eyelid|skin of eyelid melanocytic nevus NCIT:C3880|Orphanet:98588|UMLS:C0239460|SCTID:231827008 owl:Class MONDO:0007795 biolink:NamedThing mullerian duct anomalies-limb anomalies syndrome Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl hypomelia with mullerian duct anomalies|limb-uterus syndrome|severe upper limb hypoplasia and Mullerian duct anomalies|Müllerian duct anomalies-limb anomalies syndrome|hypomelia mullerian duct anomalies|limb uterus syndrome GARD:0002908|MESH:C537155|OMIM:146160|Orphanet:2491|UMLS:C1840335|ICD10:Q87.8 owl:Class MONDO:0003942 biolink:NamedThing eosinophilic variant of chromophobe renal cell carcinoma tmpte7i6ely_mondo_relaxed.owl eosinophilic variant of chromophobe renal cell carcinoma UMLS:C1333405|DOID:6606|NCIT:C27889 owl:Class MONDO:0017885 biolink:NamedThing chromophobe renal cell carcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. tmpte7i6ely_mondo_relaxed.owl chromophobe carcinoma|chromophobe carcinoma of kidney|chromophobe renal cell cancer|chromophobe renal cell adenocarcinoma|chromophobe cell carcinoma of the kidney|renal cell carcinoma, chromophobe type|CRCC|kidney chromophobe|chromophobe cell carcinoma of kidney|chromophobe renal cell carcinoma|chromophobe carcinoma of the kidney|renal cell carcinoma, chromophobe cell|ChRCC|chromophobe adenocarcinoma|CHRCC NCIT:C4146|UMLS:C3887514|EFO:0000335|ICD10:C64|SCTID:733471003|Orphanet:319303|GARD:0006064|UMLS:C1266042|DOID:4471|MESH:D002292|ICDO:8317/3|ICDO:8270/3|ONCOTREE:CHRCC https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma owl:Class UBERON:0005218 biolink:NamedThing diencephalon subarachnoid space tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007617 biolink:NamedThing Coffin-Siris syndrome 1 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene. tmpte7i6ely_mondo_relaxed.owl COFFIN-SIRIS syndrome|ARID1B-related BAFopathy|mental retardation, autosomal dominant 12|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|autosomal dominant mental retardation 12|mental retardation, autosomal dominant type 12|CSS|intellectual disability, autosomal dominant 12|MRD12|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|CSS1|Coffin-Siris syndrome 1|fifth digit syndrome|COFFIN-SIRIS syndrome 1 UMLS:CN029606|DOID:0070042|UMLS:C1864967|OMIM:135900|UMLS:C0265338|MESH:C538391|OMIM:609943|Orphanet:1465|GARD:0009945|OMIM:614562|UMLS:C3281201 https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features owl:Class MONDO:0700120 biolink:NamedThing BAFopathy Disorder caused by mutations in the various subunits composing the BAF complex. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3939 owl:Class MONDO:0012764 biolink:NamedThing RIDDLE syndrome An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. tmpte7i6ely_mondo_relaxed.owl RIDDLE syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|RNF168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome ICD10:D82.8|EFO:0009055|MESH:C567453|Orphanet:420741|DOID:0090113|UMLS:C2677792|OMIM:611943 owl:Class MONDO:0011597 biolink:NamedThing atopic dermatitis 3 An atopic dermatitis associated with variation in the region 20p. tmpte7i6ely_mondo_relaxed.owl dermatitis, Atopic, with asthma|atopic dermatitis type 3|ATOD3|atopic dermatitis with asthma|dermatitis, ATOPIC, 3 DOID:0110099|OMIM:605804|UMLS:C1853964|MESH:C565292 owl:Class MONDO:0009327 biolink:NamedThing heart, malformation of tmpte7i6ely_mondo_relaxed.owl heart, malformation of OMIM:234750|OMIM:140500 owl:Class GO:0055127 biolink:NamedThing vibrational conductance of sound to the inner ear The transmission of vibrations via ossicles to the inner ear. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903487 biolink:NamedThing regulation of lactation Any process that modulates the frequency, rate or extent of lactation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020405 biolink:NamedThing straddling and/or overriding mitral valve tmpte7i6ely_mondo_relaxed.owl Orphanet:99064|ICD10:Q23.8 owl:Class MONDO:0019818 biolink:NamedThing cleft mitral valve tmpte7i6ely_mondo_relaxed.owl ICD10:Q23.3|Orphanet:95465 owl:Class MONDO:0016701 biolink:NamedThing oligoastrocytic tumor tmpte7i6ely_mondo_relaxed.owl mixed oligodendroglial and astrocytic tumor UMLS:C0280793|UMLS:CN201945|Orphanet:251651 owl:Class MONDO:0019991 biolink:NamedThing immunotactoid glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. tmpte7i6ely_mondo_relaxed.owl FGN|Immunotactoid glomerulonephritis|fibrillary glomerulonephritis NCIT:C96182|ICD9:583.9|SCTID:73305009|GARD:0012048|ICD10:N03.6|Orphanet:97567 https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy owl:Class MONDO:0019605 biolink:NamedThing immunotactoid or fibrillary glomerulopathy Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. tmpte7i6ely_mondo_relaxed.owl fibrillary glomerulonephritis and immunotactoid glomerulopathy|Immunotactoid or fibrillary glomerulonephritis ICD10:N03.6|Orphanet:91137|GARD:0012741 https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy owl:Class CHEBI:36914 biolink:NamedThing inorganic ion tmpte7i6ely_mondo_relaxed.owl inorganic ions owl:Class PATO:0002182 biolink:NamedThing molecular quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. tmpte7i6ely_mondo_relaxed.owl relational molecular quality owl:Class MONDO:0005594 biolink:NamedThing severe cutaneous adverse reaction A permanent mark left on the skin in the process of wound healing. tmpte7i6ely_mondo_relaxed.owl scarring|Scar|SCAR SCTID:275322007|MedDRA:20000020|NCIT:C34483|EFO:0006346 owl:Class MONDO:0010955 biolink:NamedThing ectodermal dysplasia with intellectual disability and syndactyly tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia mental retardation syndactyly|ectodermal dysplasia intellectual disability syndactyly|ectodermal dysplasia with intellectual disability and syndactyly|ectodermal dysplasia with mental retardation and syndactyly MESH:C538018|GARD:0002052|UMLS:C1833169|OMIM:600906 owl:Class MONDO:0002969 biolink:NamedThing ciliary body cancer A malignant neoplasm involving the ciliary body. tmpte7i6ely_mondo_relaxed.owl cancer of ciliary body|malignant neoplasm of the ciliary body|malignant ciliary body tumor|malignant ciliary body neoplasm|malignant neoplasm of ciliary body|malignant tumor of ciliary body|tumor of the ciliary body|malignant tumor of the ciliary body|ciliary body cancer DOID:4352|ICD10:C69.4|UMLS:C0496833|UMLS:C0339349|NCIT:C4364|NCIT:C4766|SCTID:188263008 owl:Class MONDO:0019932 biolink:NamedThing isolated partial vaginal agenesis Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. tmpte7i6ely_mondo_relaxed.owl congenital absence of vagina SCTID:87380008|ICD10:Q52.0|Orphanet:96269 owl:Class UBERON:0005381 biolink:NamedThing dentate gyrus granule cell layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002304 biolink:NamedThing layer of dentate gyrus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021086 biolink:NamedThing gingival neoplasm A benign or malignant neoplasm that affects the upper or lower gingiva. tmpte7i6ely_mondo_relaxed.owl neoplasm of gum|gum tumor|gingival neoplasm|gum neoplasm|gingival tumor|tumor of the gum|gingiva tumor|tumor of gum|tumor of gingiva|neoplasm of the gum|tumor of the gingiva|gingiva neoplasm|neoplasm of gingiva|gingiva neoplasm (disease)|neoplasm of the gingiva NCIT:C3057|UMLS:C0017570|SCTID:126792007 owl:Class HGNC:3663 biolink:NamedThing FGD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019413 biolink:NamedThing ischio-vertebral syndrome Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl ischio-vertebral dysplasia|ischio-spinal dysostosis UMLS:CN206143|ICD10:Q77.8|Orphanet:85200|SCTID:715654001|UMLS:C4274732 owl:Class MONDO:0008620 biolink:NamedThing upper limb mesomelic dysplasia This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. tmpte7i6ely_mondo_relaxed.owl Fryns-Hofkens-Fabry syndrome|upper limb mesomelic dysplasia|ulna hypoplasia|Fryns Hofkens Fabry syndrome|ulnar hypoplasia MESH:C538069|ICD10:Q78.8|GARD:0002408|OMIM:191440|Orphanet:2497 owl:Class NCBITaxon:91835 biolink:NamedThing fabids tmpte7i6ely_mondo_relaxed.owl eurosids I GC_ID:1 NCBITaxon:41939|NCBITaxon:4293 ncbi_taxonomy owl:Class NCBITaxon:71275 biolink:NamedThing rosids tmpte7i6ely_mondo_relaxed.owl Rosidae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010611 biolink:NamedThing X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. tmpte7i6ely_mondo_relaxed.owl hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked HSAS|X-linked hydrocephalus with stenosis of the aqueduct of Sylvius|HYCX|hydrocephalus, X-linked|HSAS1|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|X-linked hydrocephalus|aqueductal stenosis, X-linked|XLAS|X-linked acqueductal stenosis|HSAS|Bickers-Adams syndrome|hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000|SCTID:71779008|MESH:C536078|Orphanet:2182|ICD10:Q03.0|Orphanet:275543|GARD:0000434 owl:Class MONDO:0017140 biolink:NamedThing L1 syndrome L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. tmpte7i6ely_mondo_relaxed.owl crash syndrome|L1CAM syndrome|L1 syndrome|corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome OMIM:304100|Orphanet:275543|GARD:0012524|OMIM:307000|UMLS:CN118845|ICD10:Q04.8|OMIM:303350 owl:Class OBO:CHR_9606-chr5q14.3 biolink:NamedThing 5q14.3 (Human) tmpte7i6ely_mondo_relaxed.owl 93000000 83500000 hg38 owl:Class PO:0030109 biolink:NamedThing hesperidium fruit A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618). tmpte7i6ely_mondo_relaxed.owl citrus fruit (exact)|hesperide (exact, German)|hesperidium (exact)|panzerbeere (broad, German)|hesperidio (exact, Spanish)|indehiscent fruit (broad) PO_GIT:652 A hesperidium fruit (PO:0030109) develops from a superior gynoecium (PO:0009062), and therefore is not surrounded by receptacle (PO:0009064) tissue. Examples: orange, grapefruit, lemon, and lime (Citrus spp.). plant_anatomy owl:Class PO:0030108 biolink:NamedThing berry fruit A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085). tmpte7i6ely_mondo_relaxed.owl beere (exact, German)|berry (exact)|indehiscent fruit (broad)|pyrine (narrow)|bacca (exact)|baya (exact, Spanish) PO_GIT:652 Examples: pepper (Capsicum annuum), papaya (Carica papaya), avocado (Persea americana), may apple (Podophyllum peltatum), date palm (Phoenix dactylifera), tomato (Solanum lycopersicum), potato (Solanum tuberosum), chocolate (Theobroma cacao), blueberry (Vaccinium spp.), and grape (Vitis vinifera). plant_anatomy owl:Class MONDO:0012971 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 7 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene. tmpte7i6ely_mondo_relaxed.owl proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in HFE|HFE microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 7|nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 7|MVCD7|nephropathy, diabetic, susceptibility to OMIM:612635 owl:Class HGNC:12679 biolink:NamedThing VDR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008038 biolink:NamedThing ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. tmpte7i6ely_mondo_relaxed.owl ATXPC|myelocerebellar disorder|ataxia-pancytopenia syndrome ICD10:D61.0|OMIM:159550|GARD:0003865|SCTID:768556005|MESH:C563233|UMLS:C1327919|Orphanet:2585 owl:Class MONDO:0006788 biolink:NamedThing hydrophthalmos Abnormal enlargement of the eye tmpte7i6ely_mondo_relaxed.owl MESH:D006871|DOID:11212|ICD10:Q15.0|SCTID:204113001|ICD9:743.2|ICD9:743.20|EFO:1000968 owl:Class ENVO:01001618 biolink:NamedThing ice accumulation process A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:229219 biolink:NamedThing Blastomyces tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:299071 biolink:NamedThing Ajellomycetaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033310 biolink:NamedThing Joubert syndrome 31 tmpte7i6ely_mondo_relaxed.owl JBTS31|Joubert syndrome 31 OMIM:617761|Orphanet:475|DOID:0080277 owl:Class MONDO:0004857 biolink:NamedThing tendinitis Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. tmpte7i6ely_mondo_relaxed.owl tendon inflammation|tendonitis|inflammation of tendon MESH:D052256|NCIT:C97141|ICD10:M77.9|DOID:971|UMLS:C0039503|SCTID:34840004 owl:Class HGNC:483 biolink:NamedThing ANG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009552 biolink:NamedThing mal de Meleda Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. tmpte7i6ely_mondo_relaxed.owl mal de Meleda|keratosis palmoplantaris transgrediens of Siemens|MDM|transgrediens palmoplantar keratoderma of Siemens|MAL DE Meleda|Meleda disease|keratosis palmoplantaris transgradiens of Siemens SCTID:239069005|GARD:0000092|UMLS:C0025221|ICD9:757.39|OMIM:248300|ICD10:Q82.8|DOID:0060862|Orphanet:87503 owl:Class MONDO:0020096 biolink:NamedThing autosomal recessive isolated diffuse palmoplantar keratoderma Autosomal recessive form of isolated diffuse palmoplantar keratoderma. tmpte7i6ely_mondo_relaxed.owl isolated diffuse palmoplantar keratoderma, autosomal recessive|autosomal recessive isolated diffuse palmoplantar hyperkeratosis ICD10:Q82.8|UMLS:CN229269|Orphanet:98356 owl:Class GO:0009894 biolink:NamedThing regulation of catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpte7i6ely_mondo_relaxed.owl regulation of degradation|regulation of catabolism|regulation of breakdown owl:Class MONDO:0010830 biolink:NamedThing neuronal ceroid lipofuscinosis 8 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. tmpte7i6ely_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, type 8|neuronal ceroid lipofuscinosis type 8|neuronal ceroid lipofuscinosis 8|CLN8|CLN8 neuronal ceroid lipofuscinosis|CLN8 disease|ceroid lipofuscinosis, neuronal, 8|neuronal ceroid lipofuscinosis caused by mutation in CLN8 MESH:C537952|Orphanet:168491|Orphanet:228354|Orphanet:79264|SCTID:703526007|DOID:0110723|OMIM:600143|ICD10:E75.4 owl:Class UBERON:0010675 biolink:NamedThing manual digit 1 phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015025 biolink:NamedThing manual digit 1 phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016194 biolink:NamedThing qualitative or quantitative defects of nebulin tmpte7i6ely_mondo_relaxed.owl Orphanet:209182 owl:Class UBERON:0007135 biolink:NamedThing neural keel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410021 biolink:NamedThing inguinal region skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015161 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome without intellectual disability tmpte7i6ely_mondo_relaxed.owl MCA without intellectual disability|multiple congenital anomalies without intellectual disability with or without dysmorphism Orphanet:102285 owl:Class MONDO:0060496 biolink:NamedThing neurodevelopmental disorder with hypotonia, neuropathy, and deafness tmpte7i6ely_mondo_relaxed.owl NEDHND|myopathy, Congenital, with neuropathy and Deafness|neurodevelopmental disorder with hypotonia, neuropathy, and deafness UMLS:C4479603|OMIM:617519 owl:Class GO:2001199 biolink:NamedThing negative regulation of dendritic cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000029 biolink:NamedThing site tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004553 biolink:NamedThing forelimb digital artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003522 biolink:NamedThing manual digit blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005058 biolink:NamedThing hemolymphoid system gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002433 biolink:NamedThing immune response-regulating cell surface receptor signaling pathway involved in phagocytosis An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. tmpte7i6ely_mondo_relaxed.owl immune response-regulating cell surface receptor signalling pathway involved in phagocytosis|phagocytosis triggered by activation of immune response cell surface activating receptor owl:Class HGNC:14539 biolink:NamedThing RNF213 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010206 biolink:NamedThing hypotrichosis 8 Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene. tmpte7i6ely_mondo_relaxed.owl woolly hair, autosomal recessive 1, with or without hypotrichosis|hypotrichosis type 8|hypotrichosis, localized, autosomal recessive 3|hypotrichosis caused by mutation in LPAR6|LAH3|LPAR6 hypotrichosis|hypotrichosis 8|HYPT8 DOID:0110705|MESH:C566950|OMIM:278150|Orphanet:55654|Orphanet:170|UMLS:C3279470 owl:Class CL:0000771 biolink:NamedThing eosinophil Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. tmpte7i6ely_mondo_relaxed.owl eosinocyte|eosinophilic granulocyte|polymorphonuclear leucocyte|polymorphonuclear leukocyte|eosinophilic leucocyte|eosinophilic leukocyte CALOHA:TS-0279|FMA:62861|BTO:0000399 Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. cell owl:Class GO:0043457 biolink:NamedThing regulation of cellular respiration Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023069 biolink:NamedThing enlarged vestibular aqueduct syndrome tmpte7i6ely_mondo_relaxed.owl enlarged vestibular aqueduct|enlarged vestibular aqueduct syndrome|large vestibular aqueduct syndrome DOID:0050332|GARD:0008651 https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome owl:Class MONDO:0006199 biolink:NamedThing endometrial undifferentiated carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation. tmpte7i6ely_mondo_relaxed.owl undifferentiated endometrial carcinoma|endometrial undifferentiated carcinoma EFO:1000242|UMLS:CN201056|NCIT:C40156 owl:Class MONDO:0004741 biolink:NamedThing tyrosinemia An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. tmpte7i6ely_mondo_relaxed.owl NCIT:C98640|DOID:9275|ICD10:E70.21|OMIMPS:276700|MESH:D020176|SCTID:190694001|UMLS:C0268483|ICD9:270.2 owl:Class GO:0006750 biolink:NamedThing glutathione biosynthetic process The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins. tmpte7i6ely_mondo_relaxed.owl glutathione formation|glutathione anabolism|glutathione synthesis|glutathione biosynthesis owl:Class MONDO:0012988 biolink:NamedThing hypogonadotropic hypogonadism 6 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene. tmpte7i6ely_mondo_relaxed.owl KAL6|HH6|Kallmann syndrome 6|hypogonadotropic hypogonadism caused by mutation in FGF8|FGF8 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 6 with or without anosmia OMIM:612702|UMLS:C3552574|ICD10:E23.0|GARD:0010774|MESH:C567199|DOID:0090086 https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 owl:Class MONDO:0019349 biolink:NamedThing Sotos syndrome Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. tmpte7i6ely_mondo_relaxed.owl distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development|Sotos syndrome|Sotos' syndrome|cerebral gigantism syndrome|cerebral gigantism OMIM:617169|UMLS:CN239475|UMLS:C0175695|Orphanet:821|OMIM:117550|DOID:14748|OMIM:614753|OMIMPS:117550|ICD10:Q87.3|SCTID:75968004|MedDRA:10064387|GARD:0010091|NCIT:C75019|MESH:D058495 owl:Class MONDO:0016215 biolink:NamedThing spastic quadriplegic cerebral palsy A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. tmpte7i6ely_mondo_relaxed.owl spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia|inherited congenital spastic tetraplegia|quadriplegic infantile cerebral palsy|tetraplegic infantile cerebral palsy|spastic tetraplegia cerebral palsy|spastic quadriplegia OMIM:612900|MESH:D002547|DOID:10970|ICD9:344.09|GARD:0010447|OMIM:617008|ICD10:G11.4|OMIMPS:612900|SCTID:192965001|OMIMPS:603513|UMLS:C0154697|OMIM:603513|ICD9:343.2|Orphanet:210141|NCIT:C116904 owl:Class CL:0002251 biolink:NamedThing epithelial cell of alimentary canal An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-08T09:26:53Z cell owl:Class MONDO:0008795 biolink:NamedThing aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. tmpte7i6ely_mondo_relaxed.owl aniridia, cerebellar ataxia and mental deficiency|GLSP|aniridia, cerebellar ataxia, and mental retardation|aniridia, cerebellar ataxia, and intellectual disability|Gillespie syndrome|GILLESPIE syndrome SCTID:253176002|UMLS:C0431401|OMIM:206700|MESH:C536370|Orphanet:1065|ICD10:G11.0|DOID:0111578|ICD9:759.89|GARD:0000013 owl:Class MONDO:0000334 biolink:NamedThing multinodular goiter Nodular goiter characterized by more than one discrete tissue mass. tmpte7i6ely_mondo_relaxed.owl goiter, multinodular OMIM:606082|OMIM:300273|NCIT:C131438|DOID:0050489|SCTID:237570007|Orphanet:276399|OMIM:138800|OMIMPS:138800|UMLS:C0342208 owl:Class MONDO:0013782 biolink:NamedThing pseudohypoaldosteronism type 2E Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. tmpte7i6ely_mondo_relaxed.owl pseudohypoaldosteronism, type IIE|pseudohypoaldosteronism type 2 caused by mutation in CUL3|Cul3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2E|CUL3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism type 2 caused by mutation in Cul3|PHA2E ICD10:I15.1|Orphanet:300530|UMLS:C3469606|OMIM:614496|Orphanet:757 owl:Class MONDO:0004755 biolink:NamedThing monieziasis Infection of ruminants with tapeworms of the genus Moniezia. tmpte7i6ely_mondo_relaxed.owl UMLS:C0026414|DOID:931|MESH:D008989|EFO:1001372 owl:Class HGNC:9594 biolink:NamedThing PTGER2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006575 biolink:NamedThing cellular modified amino acid metabolic process The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. tmpte7i6ely_mondo_relaxed.owl cellular modified amino acid metabolism|modified amino acid metabolism|modified amino acid metabolic process|cellular amino acid derivative metabolic process|amino acid derivative metabolic process|cellular amino acid derivative metabolism owl:Class GO:0048878 biolink:NamedThing chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011877 biolink:NamedThing autosomal dominant osteopetrosis 1 Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. tmpte7i6ely_mondo_relaxed.owl OPTA1|autosomal dominant osteopetrosis type 1|osteopetrosis autosomal dominant type 1|osteopetrosis, autosomal dominant 1|osteopetrosis, autosomal dominant type 1|osteopetrosis, autosomal dominant, type 1|LRP5 osteopetrosis (disease)|osteopetrosis (disease) caused by mutation in LRP5 MESH:C536056|GARD:0004151|DOID:0110937|ICD10:Q78.2|Orphanet:2783|OMIM:607634|UMLS:C1843330 owl:Class MONDO:0018210 biolink:NamedThing Alexander disease type II Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. tmpte7i6ely_mondo_relaxed.owl AxD type II OMIM:203450|UMLS:CN204730|Orphanet:363722|ICD10:E75.2 owl:Class GO:0010770 biolink:NamedThing positive regulation of cell morphogenesis involved in differentiation Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009220 biolink:NamedThing visceral steatosis, congenital tmpte7i6ely_mondo_relaxed.owl fatty metamorphosis of viscera|steatosis of liver|fatal neonatal hepatic steatosis|visceral steatosis|fatty liver disease, congenital|visceral steatosis, congenital|White liver disease GARD:0008514|OMIM:228100|ICD9:571.8|SCTID:270881008 owl:Class PATO:0002014 biolink:NamedThing structure, cavities A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005820 biolink:NamedThing Lassa fever A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. tmpte7i6ely_mondo_relaxed.owl LF|Lassa hemorrhagic fever MedDRA:10023927|EFO:0007338|NCIT:C128418|ICD9:078.89|Orphanet:99824|SCTID:19065005|MESH:D007835|ICD10:A96.2|DOID:9537|UMLS:C0023092 owl:Class NCBITaxon:43920 biolink:NamedThing Chrysopsinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7205 biolink:NamedThing Tabanidae tmpte7i6ely_mondo_relaxed.owl horseflies|deerflies|horseflies and deerflies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019631 biolink:NamedThing persistent hyperplastic primary vitreous A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) tmpte7i6ely_mondo_relaxed.owl PHPV|non-syndromic congenital retinal non-attachment|persistent fetal vasculature syndrome|PFVS|congenital retinal detachment|ncRNA disease SCTID:314270008|OMIM:611308|Orphanet:91495|DOID:0060282|ICD10:Q14.0|MESH:D054514|OMIMPS:221900|OMIM:221900 owl:Class MONDO:0010212 biolink:NamedThing xeroderma pigmentosum group D Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum group D|XP, Group H|XPD|xeroderma pigmentosum caused by mutation in ERCC2|xeroderma pigmentosum 4|XP, Group H, formerly|xeroderma pigmentosum, complementation group type D|XP4|XP group H|XPDC|XP-D|XP group D|ERCC2 xeroderma pigmentosum|XP4 xeroderma pigmentosum VIII, formerly|XP8|XP, Group D|XPH|xeroderma pigmentosum group type D|xeroderma pigmentosum VIII|xeroderma pigmentosum, complementation group D|XP4 xeroderma pigmentosum VIII|xeroderma pigmentosum IV OMIM:278730|Orphanet:276258|MESH:C562591|Orphanet:220295|ICD10:Q82.1|NCIT:C3967|DOID:0110845|Orphanet:910|SCTID:68637004 owl:Class CHEBI:32178 biolink:NamedThing Talc tmpte7i6ely_mondo_relaxed.owl Talc owl:Class MONDO:0015079 biolink:NamedThing multiple polyglandular tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:100094|UMLS:C0027662|ICD10:D44.8|UMLS:CN197373 Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad owl:Class MONDO:0010388 biolink:NamedThing rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked tmpte7i6ely_mondo_relaxed.owl ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked|rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked|RESDX|rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked OMIM:300643|UMLS:C1845070|Orphanet:163721|MESH:C564467 owl:Class MONDO:0015587 biolink:NamedThing rolandic epilepsy-speech dyspraxia syndrome Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. tmpte7i6ely_mondo_relaxed.owl OMIM:300643|UMLS:CN199957|Orphanet:163721|OMIM:245570 owl:Class MONDO:0004882 biolink:NamedThing angioid streaks of choroid A angioid streaks that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl optic choroid angioid streaks|angioid streaks of optic choroid SCTID:86103006|ICD9:363.43|UMLS:C0002983|DOID:979 owl:Class MONDO:0006701 biolink:NamedThing chromophobe adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. tmpte7i6ely_mondo_relaxed.owl chromophobe adenoma of pituitary gland|chromophobe adenoma of the pituitary gland|pituitary chromophobe adenoma|pituitary gland chromophobe adenoma MESH:D000238|UMLS:C0001432|DOID:3828|EFO:1000867|ICDO:8270/0|NCIT:C2857 owl:Class MONDO:0010907 biolink:NamedThing familial hypertryptophanemia Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. tmpte7i6ely_mondo_relaxed.owl familial hypertryptophanemia|hypertryptophanemia, familial|hypertryptophanemia|HYPTRP OMIM:600627|MESH:C538393|UMLS:C2931837|UMLS:C1833562|DOID:0111703|Orphanet:2224|ICD10:E70.8|SCTID:721838005|GARD:0002871 https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia owl:Class MONDO:0017350 biolink:NamedThing inborn disorder of tryptophan metabolism An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of tryptophan metabolism|rare inborn error of tryptophan metabolic process|inborn error of tryptophan metabolic process|inborn tryptophan metabolic process disorder ICD10:E70.8|UMLS:CN203012|Orphanet:289829|ICD9:270.2|SCTID:5181007 owl:Class MONDO:0032649 biolink:NamedThing hypotrichosis 14 tmpte7i6ely_mondo_relaxed.owl HYPOTRICHOSIS 14|HYPT14 OMIM:618275|DOID:0080582 owl:Class CL:0002054 biolink:NamedThing Fraction E immature B cell An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive. tmpte7i6ely_mondo_relaxed.owl Markers associated with mouse cells. These cells are also reportedly sIgD-negative. tmeehan 2010-04-28T03:13:47Z cell owl:Class CL:0000816 biolink:NamedThing immature B cell An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. tmpte7i6ely_mondo_relaxed.owl immature B-cell|immature B-lymphocyte|immature B lymphocyte|newly formed B cell Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class UBERON:0007778 biolink:NamedThing umbilical artery endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:431838 biolink:NamedThing Intramacronucleata tmpte7i6ely_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class MONDO:0016226 biolink:NamedThing specific language disorder tmpte7i6ely_mondo_relaxed.owl specific language disorder|dysphasia UMLS:CN200992|Orphanet:211053 owl:Class MONDO:0100039 biolink:NamedThing CDKL5 disorder A monogenic disease that has material basis in mutation in the CDKL5 gene. tmpte7i6ely_mondo_relaxed.owl CDKL5 inherited genetic disease|CDKL5-related disorder|CDKL5 disorder|inherited genetic disease caused by mutation in CDKL5|CDKL5 2018-06-29 18:32:48+00:00 GARD:0012173 Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. https://github.com/monarch-initiative/mondo/issues/202 owl:Class HGNC:30881 biolink:NamedThing ALG13 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902533 biolink:NamedThing positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. tmpte7i6ely_mondo_relaxed.owl positive regulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signaling chain|activation of intracellular signaling chain|up-regulation of intracellular signaling cascade|activation of intracellular signal transduction|positive regulation of intracellular signal transduction pathway|activation of intracellular signaling cascade|up regulation of intracellular signaling cascade|upregulation of signal transduction via intracellular signaling cascade|activation of signal transmission via intracellular cascade|activation of intracellular signal transduction pathway|up regulation of intracellular signal transduction|upregulation of intracellular signaling pathway|up-regulation of intracellular signaling chain|upregulation of intracellular signaling chain|up-regulation of intracellular signal transduction pathway|positive regulation of intracellular signaling chain|upregulation of signal transmission via intracellular cascade|upregulation of intracellular signal transduction|positive regulation of intracellular signaling pathway|up-regulation of signal transmission via intracellular cascade|up regulation of intracellular signaling pathway|up regulation of signal transmission via intracellular cascade|up-regulation of intracellular signal transduction|activation of signal transduction via intracellular signaling cascade|positive regulation of signal transmission via intracellular cascade|up regulation of signal transduction via intracellular signaling cascade|upregulation of intracellular signaling cascade|up regulation of intracellular signal transduction pathway|positive regulation of intracellular signaling cascade|activation of intracellular signaling pathway|upregulation of intracellular signal transduction pathway|up-regulation of signal transduction via intracellular signaling cascade|up-regulation of intracellular signaling pathway|positive regulation of intracellular protein kinase cascade owl:Class MONDO:0700035 biolink:NamedThing monosomy chromosome 8 A chromosomal disorder consisting of the absence of one chromosome 8. tmpte7i6ely_mondo_relaxed.owl chromosome 8 deletion|loss of chromosome 8 NCIT:C36535|MESH:C537823 owl:Class MONDO:0019369 biolink:NamedThing complex regional pain syndrome Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. tmpte7i6ely_mondo_relaxed.owl CRPS|Complex regional pain syndromes|reflex sympathetic dystrophy UMLS:C0458219|DOID:3223|Orphanet:83452|MESH:D020918|OMIM:604335|MedDRA:10064332|GARD:0004647|SCTID:128200000|ICD10:G56.4|ICD10:M89.0 owl:Class MONDO:0024317 biolink:NamedThing chronic pain syndrome Chronic form of disorder involving pain. tmpte7i6ely_mondo_relaxed.owl chronic pain disease|chronic disorder involving pain|disorder involving pain, chronic ICD10:G89.4|ICD9:338.4|SCTID:373621006|UMLS:C1298685 owl:Class MONDO:0014176 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). tmpte7i6ely_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation and characteristic facies|IHPRF syndrome|infantile hypotonia-psychomotor retardation-characteristic facies syndrome|hypotonia-speech impairment-severe cognitive delay syndrome|IHPRF OMIM:616801|ICD10:Q87.8|OMIMPS:615419|Orphanet:371364|OMIM:615419|UMLS:CN204877 owl:Class GO:0016705 biolink:NamedThing oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous owl:Class GO:0045619 biolink:NamedThing regulation of lymphocyte differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of lymphocyte development owl:Class MONDO:0008811 biolink:NamedThing XK aprosencephaly XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. tmpte7i6ely_mondo_relaxed.owl XK-aprosencephaly|XK-aprosencephaly syndrome|XK aprosencephaly syndrome|aprosencephaly syndrome|aprosencephaly-atelencephaly syndrome|Xk syndrome|atelencephaly|Garcia-Lurie syndrome GARD:0000424|Orphanet:3469|OMIM:207770|ICD10:Q04.3|UMLS:C0795952|SCTID:277921008|MESH:C536767 https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly owl:Class CL:0000906 biolink:NamedThing activated CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative. tmpte7i6ely_mondo_relaxed.owl activated CD8-positive, alpha-beta T-lymphocyte|activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-cell cell owl:Class CL:0000625 biolink:NamedThing CD8-positive, alpha-beta T cell A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor. tmpte7i6ely_mondo_relaxed.owl CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-cell|CD8-positive, alpha-beta T-lymphocyte cell owl:Class GO:0030099 biolink:NamedThing myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008374 biolink:NamedThing O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:7000114 biolink:NamedThing exposure to aerosol A exposure event involving the interaction of an exposure receptor to aerosol. tmpte7i6ely_mondo_relaxed.owl aerosol exposure owl:Class MONDO:0007295 biolink:NamedThing childhood epilepsy with centrotemporal spikes A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit. tmpte7i6ely_mondo_relaxed.owl benign Rolandic epilepsy (BRE)|BRE|Rolandic epilepsy|BCECTS|benign epilepsy with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes|BECTS|temporal-central focal epilepsy|benign Rolandic epilepsy|centralopathic epilepsy|benign Rolandic epilepsy of childhood (BREC)|BECRS|benign epilepsy with centro-temporal spikes (BECTS)|benign childhood epilepsy with centrotemporal spikes|benign epilepsy of childhood with centrotemporal spikes (BECCT)|benign childhood epilepsy with centrotemporal spike|sylvan seizures|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes ICD10:G40.0|DOID:3329|SCTID:44145005|GARD:0010287|UMLS:CN200685|UMLS:C0376532|Orphanet:1945|NCIT:C116538|OMIM:245570|ICD9:345.80|OMIM:117100|UMLS:C2363129 Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time. https://epilepsydiagnosis.org/syndrome/ects-overview.html|https://github.com/monarch-initiative/mondo/issues/2545|https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre owl:Class MONDO:0011917 biolink:NamedThing focal segmental glomerulosclerosis 3, susceptibility to Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene. tmpte7i6ely_mondo_relaxed.owl focal segmental glomerulosclerosis 3, susceptibility to|focal segmental glomerulosclerosis caused by mutation in CD2AP|susceptibility to focal segmental glomerulosclerosis 3|glomerulosclerosis, focal segmental, 3, susceptibility to|FSGS3|CD2AP focal segmental glomerulosclerosis OMIM:607832 owl:Class MONDO:0010815 biolink:NamedThing spondyloepiphyseal dysplasia tarda with characteristic facies tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda with characteristic facies UMLS:C1838653|OMIM:600093|MESH:C564003 owl:Class MONDO:0014921 biolink:NamedThing developmental and epileptic encephalopathy, 43 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 43|epileptic encephalopathy, early infantile, 43|DEE43|EIEE43|early infantile epileptic encephalopathy caused by mutation in GABRB3|GABRB3 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 43; EIEE43 UMLS:C4310712|DOID:0080447|OMIM:617113 owl:Class MONDO:0011881 biolink:NamedThing keratosis palmoplantaris striata 3 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. tmpte7i6ely_mondo_relaxed.owl keratosis palmoplantaris striata III|keratosis palmoplantaris striata type 3|keratoderma palmoplantar striate form 3|striate palmoplantar keratoderma caused by mutation in KRT1|KRT1 striate palmoplantar keratoderma|PPKS3|keratoderma, palmoplantar, striate form 3|striate palmoplantar keratoderma 3 OMIM:607654|UMLS:C2931123|MESH:C536163|Orphanet:50942|GARD:0009173 https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 owl:Class MONDO:0022606 biolink:NamedThing branchial arch disease A disease that involves the pharyngeal system development. tmpte7i6ely_mondo_relaxed.owl pharyngeal system development disease|disorder of pharyngeal system development|disease of pharyngeal system development GARD:0001001 owl:Class MONDO:0032924 biolink:NamedThing ciliary dyskinesia, primary, 45 tmpte7i6ely_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 45|CILD45|Ciliary Dyskinesia, Primary, 45, Without Situs Inversus OMIM:618801 owl:Class HP:0008063 biolink:NamedThing Aplasia/Hypoplasia of the lens Absence or underdevelopment of the lens. tmpte7i6ely_mondo_relaxed.owl Absent/underdeveloped lens|Absent/small lens UMLS:C4024738 peter 2008-04-02T03:33:00Z human_phenotype owl:Class MONDO:0007773 biolink:NamedThing hyperproglucagonemia tmpte7i6ely_mondo_relaxed.owl hyperproglucagonemia|glucagon, large molecular weight species of OMIM:145270|UMLS:C1840388|MESH:C564159 owl:Class MONDO:0020345 biolink:NamedThing presynaptic congenital myasthenic syndrome tmpte7i6ely_mondo_relaxed.owl presynaptic congenital myasthenic syndromes OMIM:254210|OMIM:616330|OMIM:615120|ICD10:G70.2|OMIM:616720|Orphanet:98914|OMIM:616040|OMIM:617143|OMIM:617239 owl:Class UBERON:0016554 biolink:NamedThing white matter of midbrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011091 biolink:NamedThing skeleton of left pelvic girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019112 biolink:NamedThing cancer-associated retinopathy Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins. tmpte7i6ely_mondo_relaxed.owl paraneoplastic retinopathy|CAR syndrome MESH:D059545|ICD9:362.10|Orphanet:71505|SCTID:404663008 owl:Class UBERON:0010061 biolink:NamedThing lumen of nasopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071830 biolink:NamedThing triglyceride-rich lipoprotein particle clearance The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003589 biolink:NamedThing hindlimb connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010155 biolink:NamedThing regulation of proton transport Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001450 biolink:NamedThing calcaneus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012475 biolink:NamedThing cone dystrophy with supernormal rod response Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. tmpte7i6ely_mondo_relaxed.owl cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|cone dystrophy with supernormal Rod responses|retinal cone dystrophy type 3B|cone dystrophy with supernormal rod ERG|retinal cone dystrophy 3B|cone dystrophy with supernormal scotopic electroretinogram|RCD3B|cone dystrophy with supernormal rod electroretinogram|cone dystrophy with supernormal rod response ICD10:H35.5|MESH:C563678|UMLS:C1835897|UMLS:C4304714|GARD:0010649|OMIM:610356|SCTID:719455002|Orphanet:209932 owl:Class MONDO:0000455 biolink:NamedThing cone dystrophy An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. tmpte7i6ely_mondo_relaxed.owl progressive cone dystrophy|retinal cone dystrophy|stationary cone dystrophy|cone dystrophy ICD10:H35.5|OMIM:602093|UMLS:C0730290|SCTID:312917007|ICD9:362.75|OMIM:304030|Orphanet:1871|OMIM:180020|OMIM:300085|OMIM:613093|DOID:0050795|GARD:0011897 owl:Class MONDO:0012331 biolink:NamedThing migraine with aura, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl Mgr9|migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9 OMIM:609670 owl:Class MONDO:0014983 biolink:NamedThing congenital myasthenic syndrome 21 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, 21, presynaptic|congenital myasthenic syndrome type 21|CMS21|congenital myasthenic syndrome 21, presynaptic|SLC18A3 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in SLC18A3 DOID:0110672|UMLS:C4310654|OMIM:617239 owl:Class MONDO:0012608 biolink:NamedThing autosomal recessive lower motor neuron disease with childhood onset A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, distal, autosomal recessive, 4|autosomal recessive distal spinal muscular atrophy type 4|dSMA4|DSMA4|distal spinal muscular atrophy type 4|spinal muscular atrophy, distal, autosomal recessive, type 4 MESH:C567023|ICD10:G12.2|Orphanet:206580|DOID:0111213|UMLS:C1970211|OMIM:611067 owl:Class MONDO:0014392 biolink:NamedThing developmental and epileptic encephalopathy, 25 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene. tmpte7i6ely_mondo_relaxed.owl DEE25|EIEE25|developmental and epileptic encephalopathy, 25|early infantile epileptic encephalopathy 25|epileptic encephalopathy, early infantile, 25|SLC13A5 early infantile epileptic encephalopathy|SLC13A5 deficiency|epileptic encephalopathy, early infantile, type 25|early infantile epileptic encephalopathy caused by mutation in SLC13A5 UMLS:C4014621|GARD:0012901|Orphanet:442835|DOID:0080453|OMIM:615905 https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25 owl:Class UBERON:0035548 biolink:NamedThing colic artery tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33666 biolink:NamedThing polycyclic hydrocarbon tmpte7i6ely_mondo_relaxed.owl polycyclic hydrocarbons|polycyclic hydrocarbon owl:Class MONDO:0002352 biolink:NamedThing larynx cancer A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant tumor of larynx|malignant neoplasm of larynx|malignant laryngeal neoplasm|larynx cancer|cancer of larynx|malignant larynx tumor|malignant neoplasm of the larynx|malignant larynx neoplasm|malignant laryngeal tumor|malignant tumor of the larynx DOID:2596|SCTID:363429002|ICD9:161|MESH:D007822|ICD10:C32|EFO:1000354|ICD9:161.9|ICD10:C32.9|NCIT:C7484|ICD9:161.8|UMLS:C0007107 owl:Class MONDO:0017524 biolink:NamedThing polydactyly of a biphalangeal thumb, bilateral tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly type 1, bilateral UMLS:CN203255|Orphanet:295146|ICD10:Q69.1 owl:Class MONDO:0006489 biolink:NamedThing vaginal melanoma A primary malignant neoplasm of the vagina composed of malignant melanocytes. tmpte7i6ely_mondo_relaxed.owl vagina melanoma|melanoma (disease) of vagina|vagina melanoma (disease)|mucosal melanoma of the vulva/vagina|melanoma of vagina|melanoma of the vagina|vaginal melanoma ONCOTREE:VMM|UMLS:C2004576|EFO:1000619|NCIT:C27394 owl:Class MONDO:0019774 biolink:NamedThing Holmes-Gang syndrome Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpte7i6ely_mondo_relaxed.owl 2022-05-01 OMIM:309580|ICD10:Q87.0|Orphanet:93970|UMLS:CN206715 Reason: out of scope. Term to consider: alpha thalassemia-X-linked intellectual disability syndrome' MONDO:0010519 owl:Class MONDO:0024618 biolink:NamedThing poliovirus infection An disease or disorder caused by infection with Enterovirus C. tmpte7i6ely_mondo_relaxed.owl Enterovirus C caused disease or disorder|human poliovirus infection|infection caused by human poliovirus|Enterovirus C disease or disorder|Enterovirus C infectious disease SCTID:721764008|UMLS:C4303135 Editor note: TODO placeholder class for poliovirus in NCIT owl:Class MONDO:0000954 biolink:NamedThing Meckel diverticulum cancer A cancer involving a Meckel's diverticulum. tmpte7i6ely_mondo_relaxed.owl Meckel diverticulum cancer|malignant Meckel's diverticulum neoplasm|cancer of Meckel's diverticulum|Meckel's diverticulum cancer|malignant neoplasm of Meckel's diverticulum UMLS:C0153429|ICD9:152.3|SCTID:187752007|DOID:10152 owl:Class MONDO:0019914 biolink:NamedThing maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpte7i6ely_mondo_relaxed.owl maternal uniparental disomy of chromosome type 9|UPD(9)mat SCTID:766240006|ICD10:Q99.8|Orphanet:96183 owl:Class MONDO:0032702 biolink:NamedThing Coffin-Siris syndrome 8 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene. tmpte7i6ely_mondo_relaxed.owl COFFIN-SIRIS SYNDROME 8|CSS8|SMARCC2-related BAFopathy OMIM:618362 Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466 owl:Class MONDO:0001894 biolink:NamedThing spinal cord sarcoma A sarcoma that arises from the spinal cord. tmpte7i6ely_mondo_relaxed.owl spinal cord sarcoma|sarcoma of spinal cord|sarcoma of the spinal cord UMLS:C1336049|DOID:14152|NCIT:C5152 owl:Class HGNC:5391 biolink:NamedThing IDUA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009749 biolink:NamedThing response to glucose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. tmpte7i6ely_mondo_relaxed.owl response to glucose stimulus owl:Class CHEBI:37324 biolink:NamedThing 7,8-dimethylbenzo[g]pteridine-2,4-dione tmpte7i6ely_mondo_relaxed.owl 7,8-dimethylbenzo[g]pteridine-2,4-dione owl:Class UBERON:0005338 biolink:NamedThing outflow tract aortic component tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004552 biolink:NamedThing digital artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004909 biolink:NamedThing epithelium of gonad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004904 biolink:NamedThing neuron projection bundle connecting eye with brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019738 biolink:NamedThing atypical hemolytic-uremic syndrome with H factor anomaly tmpte7i6ely_mondo_relaxed.owl D-HUS with H factor anomaly|atypical HUS with H factor anomaly|aHUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly OMIM:609814|Orphanet:93579|ICD10:D58.8|UMLS:CN206650|OMIM:235400 owl:Class CL:0000811 biolink:NamedThing CD8-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative. tmpte7i6ely_mondo_relaxed.owl CD8-positive, alpha-beta immature T cell|CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T-lymphocyte|CD8-positive, alpha-beta immature T lymphocyte|SP CD8 cell cell owl:Class MONDO:0019960 biolink:NamedThing VIPoma VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). tmpte7i6ely_mondo_relaxed.owl VIP-producing NET|WDHA syndrome|VIP producing neoplasm|VIP- secreting neoplasm|vasoactive intestinal peptide producing neoplasm|VIPoma, malignant|vasoactive intestinal peptide-secreting tumor|VIPoma|VIP-producing neuroendocrine tumor|vasoactive intestinal peptide-producing tumor|VIP- secreting tumor|watery diarrhea-hypokalemia-achlorhydria syndrome|Verner-Morrison syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome|VIP-secreting tumor|Diarrheogenic islet cell tumor|vasoactive intestinal peptide secreting neoplasm|malignant vasoactive intestinal peptide-secreting tumor|pancreatic vipoma|pancreatic cholera|vasoactive intestinal peptide producing tumor|vasoactive intestinal peptide (VIP) tumor MESH:D003969|SCTID:253005002|GARD:0005493|ICD9:239.7|UMLS:C0011993|ICDO:8155/1|DOID:5574|ICD10:E16.8|Orphanet:97282|MedDRA:10047430|GARD:0003787|EFO:1000622|NCIT:C26749 owl:Class MONDO:0025667 biolink:NamedThing limbal stem cell deficiency tmpte7i6ely_mondo_relaxed.owl UMLS:C1561989|Orphanet:171673 owl:Class ENVO:00000109 biolink:NamedThing woodland area Land having a cover of trees, shrubs, or both. tmpte7i6ely_mondo_relaxed.owl taiga|monsoon forest|equatorial forest|mott|coniferous forest|rain forest|mulga|grove|shrub|motte|mallee scrub|sagebrush|mulga scrub|reforested area|chanaral|copse|thicket|wood|silva|deciduous forest|scrub|wooded area|jungle|equatorial rain forest|caatinga|brigalow|pine grove|tropical rain forest|thorn forest|moor|stand|garique owl:Class MONDO:0005706 biolink:NamedThing coccidioidomycosis A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. tmpte7i6ely_mondo_relaxed.owl desert fever|Coccidioides immitis infectious disease|Coccidioides infection|desert rheumatism|primary extrapulmonary coccidioidomycosis|San Joaquin valley fever|Valley fever|Coccidioides immitis disease or disorder|California disease|Coccidioides immitis caused disease or disorder ICD9:114.1|UMLS:CN201384|DOID:13450|ICD10:B38.1|ICD10:B38.4|MESH:D003047|ICD9:114.9|ICD10:B38|ICD10:B38.2|ICD10:B38.7|ICD10:B38.0|ICD10:B38.8|SCTID:23247008|ICD10:B38.9|EFO:0007211|NCIT:C84642|MedDRA:10009825|UMLS:C0009186|UMLS:C0700644|GARD:0009525|Orphanet:228123|ICD10:B38.3|ICD9:114 owl:Class GO:0098916 biolink:NamedThing anterograde trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099537 biolink:NamedThing trans-synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001046 biolink:NamedThing seafood product A seafood product is a vertebrate or invertibrate organism from an aquatic environment. tmpte7i6ely_mondo_relaxed.owl Some of the subclasses are currently freshwater organisms. Damion Dooley owl:Class HGNC:2201 biolink:NamedThing COL3A1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030432 biolink:NamedThing peristalsis A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014821 biolink:NamedThing phasic smooth muscle contraction A process in which force is generated within phasic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the phasic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Phasic smooth muscle contraction occurs in a series of discrete contractions and relaxations. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014770 biolink:NamedThing Joubert syndrome 25 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. tmpte7i6ely_mondo_relaxed.owl JBTS25|Joubert syndrome 25|CEP104 Joubert syndrome|Joubert syndrome type 25|Joubert syndrome caused by mutation in CEP104 UMLS:C4084842|OMIM:616781|DOID:0110994 owl:Class MONDO:0014444 biolink:NamedThing Bardet-Biedl syndrome 16 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. tmpte7i6ely_mondo_relaxed.owl BBS16|Bardet-Biedl syndrome type 16|Bardet-Biedl syndrome 16|Bardet-Biedl syndrome caused by mutation in SDCCAG8|SDCCAG8 Bardet-Biedl syndrome DOID:0110138|ICD10:Q87.89|OMIM:615993|UMLS:C3889474|Orphanet:110 owl:Class MONDO:0015394 biolink:NamedThing nasal encephalocele Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. tmpte7i6ely_mondo_relaxed.owl Orphanet:141118|ICD10:Q01.1|SCTID:65455002 owl:Class MONDO:0019643 biolink:NamedThing transient pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. tmpte7i6ely_mondo_relaxed.owl TPHA Orphanet:93164|SCTID:717263009|ICD10:N15.8|UMLS:C4273962|UMLS:CN776908 owl:Class MONDO:0018638 biolink:NamedThing pseudohypoaldosteronism An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. tmpte7i6ely_mondo_relaxed.owl NCIT:C85034|ICD9:255.8|DOID:4479|UMLS:C0033805|SCTID:77098009|Orphanet:444916|MESH:D011546 owl:Class GO:0032781 biolink:NamedThing positive regulation of ATPase activity Any process that activates or increases the rate of ATP hydrolysis by an ATPase. tmpte7i6ely_mondo_relaxed.owl positive regulation of adenosinetriphosphatase activity|activation of ATPase activity|upregulation of ATPase activity|up regulation of ATPase activity|up-regulation of ATPase activity|stimulation of ATPase activity owl:Class HGNC:18234 biolink:NamedThing MOCOS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006277 biolink:NamedThing lung lymphangioleiomyomatosis Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. tmpte7i6ely_mondo_relaxed.owl pulmonary lymphangiomyomatosis|lymphangioleiomyomatosis|lung lymphangioleiomyomatosis|lung lymphangiomyomatosis|pulmonary lymphangioleiomyomatosis ICD9:518.89|NCIT:C38153|DOID:3319|Orphanet:538|OMIM:606690|SCTID:277844007|MedDRA:10049459|MESH:D018192|EFO:1000334|ONCOTREE:LAM|GARD:0003319|ICD10:D48.7 https://github.com/monarch-initiative/mondo/issues/4016 owl:Class GO:0016885 biolink:NamedThing ligase activity, forming carbon-carbon bonds Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009964 biolink:NamedThing short-rib thoracic dysplasia 9 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. tmpte7i6ely_mondo_relaxed.owl Conorenal syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Mainzer-Saldino syndrome|Saldino-Mainzer syndrome|SRTD9|short-rib thoracic dysplasia 9 with or without polydactyly|Mainzer Saldino syndrome|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Orphanet:140969|OMIM:266920|SCTID:254092004|DOID:0110097|ICD9:759.89|ICD10:Q87.5|GARD:0008600|OMIM:615630 owl:Class GO:0051641 biolink:NamedThing cellular localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. tmpte7i6ely_mondo_relaxed.owl localization within cell|cellular localisation|establishment and maintenance of localization in cell or cell membrane|single-organism cellular localization|single organism cellular localization|establishment and maintenance of cellular localization|intracellular localization owl:Class MONDO:0001648 biolink:NamedThing esophageal candidiasis Esophagitis resulting from Candida. tmpte7i6ely_mondo_relaxed.owl candidiasis of the esophagus|esophageal thrush|Candida esophagitis|candidal esophagitis|esophageal moniliasis UMLS:C0239295|DOID:13146|SCTID:20639004|ICD9:112.84|ICD10:B37.81|NCIT:C27027 owl:Class MONDO:0044317 biolink:NamedThing premature ovarian failure 13 tmpte7i6ely_mondo_relaxed.owl POF13|premature ovarian failure 13 UMLS:C4479510|OMIM:617442 owl:Class UBERON:0012102 biolink:NamedThing buccal salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043242 biolink:NamedThing negative regulation of protein-containing complex disassembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpte7i6ely_mondo_relaxed.owl inhibition of protein complex disassembly|down regulation of protein complex disassembly|down-regulation of protein complex disassembly|downregulation of protein complex disassembly|negative regulation of protein complex disassembly owl:Class MONDO:0020180 biolink:NamedThing palpebral piliary tumor tmpte7i6ely_mondo_relaxed.owl UMLS:CN207040|Orphanet:98590 owl:Class MONDO:0044652 biolink:NamedThing optic atrophy-peripheral neuropathy-developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl Harel-Yoon syndrome Orphanet:496790 owl:Class MONDO:0012021 biolink:NamedThing myopia 17, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MYP17|myopia 4|myopia 4, formerly|myopia 17, autosomal dominant UMLS:C3888211|OMIM:608367 owl:Class MONDO:0024266 biolink:NamedThing patent ductus arteriosus 3 Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene. tmpte7i6ely_mondo_relaxed.owl patent ductus arteriosus caused by mutation in PRDM6|PDA3|PRDM6 patent ductus arteriosus|patent ductus arteriosus 3 OMIM:617039|Orphanet:466729 owl:Class UBERON:0004087 biolink:NamedThing vena cava tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013875 biolink:NamedThing 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. tmpte7i6ely_mondo_relaxed.owl 3-Methylglutaconic aciduria, type 6|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|3-methylglutaconic aciduria type VI|3-MGCA-4 (formerly)|MEGDEL|3-MGCA type IV (formerly)|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria type 6|SERAC1 defect|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|MEGDEL syndrome|SERAC1 3-methylglutaconic aciduria|MGCA6|3-methylglutaconic aciduria caused by mutation in SERAC1 UMLS:C3553597|DOID:0110001|Orphanet:352328|OMIM:614739|ICD10:E71.1|SCTID:711409002|GARD:0012963 Present because it is in the OMIM series. owl:Class HGNC:20233 biolink:NamedThing COQ6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018567 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation tmpte7i6ely_mondo_relaxed.owl CMT2 due to TFG mutation Orphanet:435819|OMIM:604484|ICD10:G60.0|UMLS:CN237576 owl:Class MONDO:0019424 biolink:NamedThing X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|Orphanet:85327|UMLS:CN227631 owl:Class MONDO:0018914 biolink:NamedThing hypotrichosis simplex Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. tmpte7i6ely_mondo_relaxed.owl hereditary hypotrichosis simplex SCTID:723362004|GARD:0009170|MESH:C537160|OMIM:278150|Orphanet:55654|OMIM:607903|OMIM:605389|OMIM:615885|OMIM:614237|OMIM:615059|UMLS:C1854310|ICD10:L65.8|OMIM:614238|OMIM:604379 owl:Class MONDO:0004074 biolink:NamedThing ovarian mucinous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian mucinous cystadenofibroma NCIT:C40041|DOID:7013|UMLS:C1518725 owl:Class CHEBI:26948 biolink:NamedThing vitamin B1 Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms). tmpte7i6ely_mondo_relaxed.owl thiamins|vitamin B1 vitamers|vitamin B1 vitamer|vitamin B1|thiamine|vitamins B1|thiamines owl:Class MONDO:0001959 biolink:NamedThing labyrinthine bilateral reactive loss tmpte7i6ely_mondo_relaxed.owl loss of labyrinthine reactivity, bilateral|bilateral loss of labyrinthine reactivity ICD9:386.56|UMLS:C0155520|SCTID:194377001|DOID:14413 owl:Class UBERON:0005636 biolink:NamedThing caecum epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001492 biolink:NamedThing radial nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015411 biolink:NamedThing facial cleft A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. tmpte7i6ely_mondo_relaxed.owl cleft face|craniofacial cleft|prosoposchisis ICD10:Q18.8|Orphanet:141229|SCTID:92821006|NCIT:C124510 owl:Class GO:1901858 biolink:NamedThing regulation of mitochondrial DNA metabolic process Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolism|regulation of mtDNA metabolic process owl:Class GO:0051052 biolink:NamedThing regulation of DNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpte7i6ely_mondo_relaxed.owl regulation of DNA metabolism owl:Class MONDO:0054862 biolink:NamedThing premature ovarian failure 15 tmpte7i6ely_mondo_relaxed.owl POF15|premature ovarian failure 15 OMIM:618096 owl:Class HGNC:14000 biolink:NamedThing PRDM16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011236 biolink:NamedThing hyperinsulinism due to glucokinase deficiency Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. tmpte7i6ely_mondo_relaxed.owl HHF3|hyperinsulinemic hypoglycemia familial 3|hyperinsulinemic hypoglycemia, familial, type 3|hyperinsulinemic hypoglycemia due to glucokinase deficiency|hyperinsulinemic hypoglycemia, familial, 3 GARD:0009930|DOID:0070216|GARD:0002818|Orphanet:79299|ICD10:E16.1|SCTID:717182006|MESH:C538374|OMIM:602485 https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3 owl:Class MONDO:0012277 biolink:NamedThing myofibrillar myopathy 4 Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. tmpte7i6ely_mondo_relaxed.owl myofibrillar myopathy (disease) caused by mutation in LDB3|zaspopathy|MFM4|myopathy, myofibrillar, 4|late-onset distal myopathy, Markesbery-Griggs type|myopathy, myofibrillar, type 4|myofibrillar myopathy type 4|LDB3 myofibrillar myopathy (disease)|ZASP-related myofibrillar myopathy OMIM:609452|Orphanet:98912|GARD:0001886|UMLS:C1836155|ICD10:G71.8|MESH:C563718|DOID:0080095 owl:Class MONDO:0015433 biolink:NamedThing ring chromosome 17 Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. tmpte7i6ely_mondo_relaxed.owl Ring chromosome type 17|R17|Ring chromosome 17 syndrome|chromosome 17 ring|Ring 17 GARD:0004724|Orphanet:1441|MESH:C538046|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17 owl:Class UBERON:0015059 biolink:NamedThing orbitosphenoid endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023561 biolink:NamedThing Koone-Rizzo-Elias syndrome tmpte7i6ely_mondo_relaxed.owl ichthyosis, intellectual disability and asymptomatic spasticity|ichthyosis, mental retardation and asymptomatic spasticity|Koone Rizzo Elias syndrome UMLS:C2931397|MESH:C537023|GARD:0003131 https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome owl:Class MONDO:0006777 biolink:NamedThing hairy tongue A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black. tmpte7i6ely_mondo_relaxed.owl hairy tongue|hairy Tongues|overgrowth of filiform papillae|Tongues, hairy NCIT:C35075|EFO:1000957|MESH:D014064|SCTID:255225007|UMLS:C0040414|DOID:13500|ICD9:529.8|MedDRA:10043960 owl:Class MONDO:0003027 biolink:NamedThing thyroid gland angiosarcoma A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. tmpte7i6ely_mondo_relaxed.owl angiosarcoma of thyroid gland|thyroid gland angiosarcoma|thyroid angiosarcoma|angiosarcoma of thyroid|hemangiosarcoma of thyroid|angiosarcoma (disease) of thyroid gland|angiosarcoma of the thyroid|hemangiosarcoma of the thyroid gland|hemangiosarcoma of thyroid gland|angiosarcoma of the thyroid gland|thyroid hemangiosarcoma|hemangiosarcoma of the thyroid|thyroid gland malignant hemangioendothelioma|thyroid gland hemangiosarcoma|thyroid gland angiosarcoma (disease) NCIT:C6043|DOID:4514|UMLS:C1336748 owl:Class HGNC:7316 biolink:NamedThing MS4A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014579 biolink:NamedThing Senior-Loken syndrome 8 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. tmpte7i6ely_mondo_relaxed.owl Senior-Loken syndrome type 8|WDR19 Senior-Loken syndrome|Senior-Loken syndrome 8|SENIOR-Loken syndrome 8|SLSN8|Senior-Loken syndrome caused by mutation in WDR19 UMLS:C4225376|Orphanet:3156|OMIM:616307 owl:Class MONDO:0008840 biolink:NamedThing ataxia telangiectasia Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. tmpte7i6ely_mondo_relaxed.owl AT, complementation group A|Louis Bar syndrome|cerebello-oculocutaneous telangiectasia|ataxia telangiectasia syndrome|Louis-Bar syndrome|immunodeficiency with ataxia telangiectasia|AT, complementation group D|AT|ataxia - telangiectasia|boder-Sedgwick syndrome|ataxia-telangiectasia|AT, complementation group C|ataxia - telangiectasia variant|AT1|ataxia telangiectasia|AT, complementation group E SCTID:68504005|OMIM:208900|GARD:0005862|DOID:12704|ICD9:334.8|ICD10:G11.3|Orphanet:100|NCIT:C2887|UMLS:C0004135|MESH:D001260|MedDRA:10003594|OMIM:208910 https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia owl:Class UBERON:0010700 biolink:NamedThing phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003859 biolink:NamedThing forelimb mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020524 biolink:NamedThing primary parathyroid hyperplasia tmpte7i6ely_mondo_relaxed.owl familial parathyroids hyperplasia|hereditary parathyroids hyperplasia ICD10:E21.0|OMIM:600166|Orphanet:99878 owl:Class UBERON:8420000 biolink:NamedThing hair of scalp tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009209 biolink:NamedThing autosomal recessive faciodigitogenital syndrome Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. tmpte7i6ely_mondo_relaxed.owl facio-digito-genital syndrome, Kuwait type|Teebi-Naguib-Alawadi syndrome|faciodigitogenital syndrome, autosomal recessive|Aarskog-like syndrome|Kuwait type faciodigitogenital syndrome Orphanet:1974|OMIM:227330|ICD10:Q87.8 owl:Class HGNC:25135 biolink:NamedThing LRSAM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011958 biolink:NamedThing bile and pancreatic ducts, complete absence of tmpte7i6ely_mondo_relaxed.owl bile and pancreatic ducts, complete absence of MESH:C564298|OMIM:608063 owl:Class CL:0002081 biolink:NamedThing type II cell of carotid body This cell resembles a glia cell, express the glial marker S100 and act as a supporting cell to type I cell. This cell is located in a small cluster of type I and type II cells near the fork of the carotid artery. tmpte7i6ely_mondo_relaxed.owl sheath cell of carotid body FMA:84187 tmeehan 2010-06-30T04:23:42Z cell owl:Class MONDO:0024278 biolink:NamedThing proctocolitis Inflammation of the rectum and colon. tmpte7i6ely_mondo_relaxed.owl colorectum inflammation|proctocolitis|inflammation of colorectum SCTID:418130002|NCIT:C77952|UMLS:C0033247 owl:Class ENVO:00002203 biolink:NamedThing inorganically enriched sediment Chemically-enriched sediment which has increased levels of inorganic compounds. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045684 biolink:NamedThing positive regulation of epidermis development Any process that activates or increases the frequency, rate or extent of epidermis development. tmpte7i6ely_mondo_relaxed.owl positive regulation of epidermal development|positive regulation of hypodermis development|up regulation of epidermis development|upregulation of epidermis development|stimulation of epidermis development|up-regulation of epidermis development|activation of epidermis development owl:Class MONDO:0007933 biolink:NamedThing vitelliform macular dystrophy 1 tmpte7i6ely_mondo_relaxed.owl macular dystrophy, vitelliform, 1|vitelliform macular dystrophy, atypical|macular dystrophy, atypical vitelliform|VMD1 MESH:C537832|GARD:0010120|OMIM:153840|Orphanet:99000 owl:Class MONDO:0011979 biolink:NamedThing adult-onset foveomacular vitelliform dystrophy Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. tmpte7i6ely_mondo_relaxed.owl foveomacular dystrophy, adult-onset, with choroidal neovascularization|AVMD|VMD3|macular dystrophy, vitelliform, adult-onset|adult-onset vitelliform macular dystrophy|pseudo-vitelliform macular dystrophy|macular dystrophy, vitelliform, 3|adult-onset foveomacular dystrophy|macular dystrophy, vitelliform, type 3|adult-onset foveomacular dystrophy with choroidal neovascularization|pseudo-Best disease|AOFMD|foveomacular dystrophy, adult-onset; AOFMD|Gass disease OMIM:616152|OMIM:616151|SCTID:232049001|GARD:0010909|ICD10:H35.5|OMIM:608161|Orphanet:99000|OMIM:153840|UMLS:C1842914 owl:Class MONDO:0016154 biolink:NamedThing qualitative or quantitative defects of myotubularin tmpte7i6ely_mondo_relaxed.owl Orphanet:207110 owl:Class UBERON:0009974 biolink:NamedThing lumen of Rathke's pouch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010413 biolink:NamedThing parametrial fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015143 biolink:NamedThing mesenteric fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001059 biolink:NamedThing common myeloid progenitor, CD34-positive A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. tmpte7i6ely_mondo_relaxed.owl myeloid stem cell|pluripotent stem cell (bone marrow)|CFU-S|CFU-GEMM|multipotential myeloid stem cell|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor, CD34-positive|CMP CMP are reportedly CD16-positive, CD32-positive, CD38-positive, CD45RA-negative, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class UBERON:0013232 biolink:NamedThing serous acinus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011858 biolink:NamedThing acinus of exocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007977 biolink:NamedThing mesomelic dysplasia, Kantaputra type Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. tmpte7i6ely_mondo_relaxed.owl mesomelic dysplasia with ankle carpal and tarsal synostosis|mesomelic dysplasia, Thai type|Kantaputra mesomelic dysplasia|mesomelic dysplasia, Kantaputra type|MDK|Mdk|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|MMDK|mesomelic dysplasia Kantaputra type|mesomelic dysplasia Thai type MESH:C535547|ICD10:Q78.8|OMIM:613681|SCTID:719397009|OMIM:156232|Orphanet:1836|GARD:0003074 https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type owl:Class MONDO:0044213 biolink:NamedThing acute idiopathic urticaria Acute form of idiopathic urticaria. tmpte7i6ely_mondo_relaxed.owl idiopathic urticaria, acute|acute idiopathic urticaria UMLS:C0578869|SCTID:302161006 owl:Class MONDO:0006262 biolink:NamedThing lacrimal gland adenoid cystic carcinoma A adenoid cystic carcinoma that involves the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl lacrimal gland adenoid cystic carcinoma|adenoid cystic carcinoma of the lacrimal gland|adenoid cystic carcinoma of lacrimal gland NCIT:C4540|SCTID:254987003|DOID:4870|EFO:1000317|UMLS:C0346340 owl:Class MONDO:0019907 biolink:NamedThing ring chromosome 13 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. tmpte7i6ely_mondo_relaxed.owl chromosome 13 ring|Ring chromosome 13 syndrome|Ring 13|Ring chromosome type 13|R13 GARD:0006069|MESH:C538303|Orphanet:96176|ICD10:Q93.2|SCTID:726723004 https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 owl:Class CL:0002012 biolink:NamedThing Kit-low proerythroblast A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive. tmpte7i6ely_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-26T10:31:56Z cell owl:Class MONDO:0020427 biolink:NamedThing Laubry-Pezzi syndrome Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. tmpte7i6ely_mondo_relaxed.owl VSD with aortic insufficiency|ventricular septal defect with aortic insufficiency ICD10:Q21.0|Orphanet:99094|SCTID:764955006|UMLS:CN207292 owl:Class UBERON:0016928 biolink:NamedThing metaphysis of fibula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001784 biolink:NamedThing malignant renovascular hypertension tmpte7i6ely_mondo_relaxed.owl malignant renal artery stenosis|malignant renal hypertension DOID:13730 owl:Class MONDO:0045054 biolink:NamedThing cancer-related condition A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). tmpte7i6ely_mondo_relaxed.owl problem/condition, cancer related|cancer-related problem or condition|oncologic complications|cancer related problem/condition|cancer-related condition|problem/condition, cancer-related NCIT:C8278|UMLS:C0280950 owl:Class NCBITaxon:2732543 biolink:NamedThing Hepelivirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:5476 biolink:NamedThing IGFBP7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014834 biolink:NamedThing dyskinesia, limb and orofacial, infantile-onset tmpte7i6ely_mondo_relaxed.owl dyskinesia, limb and orofacial, infantile-onset; IOLOD|dyskinesia, limb and orofacial, infantile-onset|IOLOD UMLS:C4310792|OMIM:616921 owl:Class HGNC:24576 biolink:NamedThing CDT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011868 biolink:NamedThing lethal congenital contracture syndrome 2 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. tmpte7i6ely_mondo_relaxed.owl lethal congenital contracture syndrome caused by mutation in ERBB3|multiple contracture syndrome, Israeli Bedouin type|lethal congenital contracture syndrome 2|multiple contracture syndrome, Israeli-Bedouin type|ERBB3 lethal congenital contracture syndrome|LCCS2|lethal congenital contracture syndrome type 2|multiple contracture syndrome, Israeli Bedouin type a DOID:0060560|GARD:0009177|OMIM:607598|UMLS:C1843478|Orphanet:137776|SCTID:715419004|MESH:C564369|UMLS:C4275145|ICD10:Q68.8|Orphanet:137783 https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 owl:Class MONDO:0032814 biolink:NamedThing microangiopathy and leukoencephalopathy, pontine, autosomal dominant tmpte7i6ely_mondo_relaxed.owl PADMAL|Dementia, Hereditary Multi-Infarct, Swedish Type|MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT OMIM:618564 owl:Class MONDO:0025293 biolink:NamedThing poult enteritis mortality syndrome An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections. tmpte7i6ely_mondo_relaxed.owl spiking mortality syndrome|mortality syndrome, spiking UMLS:C1135821|MESH:D031261 owl:Class MONDO:0009668 biolink:NamedThing lethal multiple pterygium syndrome Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. tmpte7i6ely_mondo_relaxed.owl pterygium syndrome multiple lethal type|autosomal recessive lethal multiple pterygium syndrome|pterygium syndrome, multiple, lethal type|LMPS|lethal multiple pterygium syndrome|multiple pterygium syndrome lethal type|multiple pterygium syndrome, lethal type Orphanet:33108|ICD9:759.89|UMLS:C1854678|GARD:0003834|NCIT:C101038|SCTID:60192008|ICD10:Q79.8|OMIM:253290 https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type owl:Class MONDO:0002598 biolink:NamedThing germinoma A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. tmpte7i6ely_mondo_relaxed.owl germinoma|germinoma (disease) germinoma (disease) UMLS:C0206660|MESH:D018237|DOID:3304|HP:0100620|ONCOTREE:GMN|NCIT:C3753|ICDO:9064/3 owl:Class MONDO:0003695 biolink:NamedThing ovarian clear cell adenofibroma An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. tmpte7i6ely_mondo_relaxed.owl ovarian clear cell adenofibroma|ovary clear cell adenofibroma|clear cell adenofibroma of ovary DOID:5897|NCIT:C40085|UMLS:C1518694 owl:Class MONDO:0003460 biolink:NamedThing clear cell adenofibroma A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl clear cell adenofibroma (morphologic abnormality)|clear cell adenofibroma DOID:5477|NCIT:C8987|NCIT:C8985|ICDO:8313/0|MESH:D062625 owl:Class MONDO:0007989 biolink:NamedThing congenital microcoria Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. tmpte7i6ely_mondo_relaxed.owl pinhole pupils|miosis, congenital|Mcor|chromosome 13Q32 deletion syndrome|microcoria, congenital|congenital miosis OMIM:156600|Orphanet:566|SCTID:400962005|MESH:C537550|GARD:0003635 https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital owl:Class MONDO:0044304 biolink:NamedThing hyperphenylalaninemia due to DNAJC12 deficiency Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). tmpte7i6ely_mondo_relaxed.owl HPANBH4|hyperphenylalaninemia, mild, non-BH4-deficient|hyperphenylalaninemia due to DNAJC12 deficiency UMLS:C4479270|OMIM:617384|Orphanet:508523 owl:Class MONDO:0044956 biolink:NamedThing paranasal sinus mucoepidermoid carcinoma A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. tmpte7i6ely_mondo_relaxed.owl paranasal sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the accessory sinus|mucoepidermoid carcinoma of accessory sinus|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the paranasal sinus|mucoepidermoid carcinoma of paranasal sinus NCIT:C6018 owl:Class HGNC:2956 biolink:NamedThing DNASE1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003337 biolink:NamedThing serosa of jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903959 biolink:NamedThing regulation of anion transmembrane transport Any process that modulates the frequency, rate or extent of anion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048864 biolink:NamedThing stem cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0025127 biolink:NamedThing primordium A portion of meristem tissue (PO:0009013) that has as parts protoderm (PO:0006210) and sub-epidermal meristematic tissue and is committed to the development of a particular plant structure (PO:0009011). tmpte7i6ely_mondo_relaxed.owl portion of primordium tissue (exact)|原基（可視的） (Japanese, exact)|portion of primordial tissue (exact)|primordio (Spanish, exact)|primordia (exact, plural) PO_GIT:186 A primordium appears as a protrusion and is the first distinct form of a plant organ (PO:0009008), cardinal organ part (PO:0025001), or collective plant organ structure (PO:0025007). The transition from a primordium to the plant structure it develops into is marked by the development of non-meristematic cells, although meristematic cells may be present after the transition. rwalls 2010-11-15T09:10:22Z plant_anatomy owl:Class MONDO:0012880 biolink:NamedThing hypogonadotropic hypogonadism 5 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene. tmpte7i6ely_mondo_relaxed.owl KAL5|Kallmann syndrome 5|hypogonadotropic hypogonadism 5 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in CHD7|HH5|CHD7 hypogonadotropic hypogonadism UMLS:C3552553|MESH:C567220|ICD10:E23.0|OMIM:612370|GARD:0010773|DOID:0090084 https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 owl:Class PATO:0001544 biolink:NamedThing flexible A physical quality inhering in a bearer by virtue of the bearer's ability of being turned, bowed, or twisted without breaking. tmpte7i6ely_mondo_relaxed.owl bendy owl:Class UBERON:0007021 biolink:NamedThing sexually immature organism tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:117570 biolink:NamedThing Teleostomi tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006396 biolink:NamedThing rectal villous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl villous adenoma of the rectum|rectal villous adenoma|villous adenoma of rectum|rectum villous adenoma SCTID:312823001|NCIT:C4919|EFO:1000506|UMLS:C0730199 owl:Class MONDO:0006939 biolink:NamedThing pyelonephritis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. tmpte7i6ely_mondo_relaxed.owl pyometrium|kidney infection ICD10:N10-N16|EFO:1001141|NCIT:C34965|MedDRA:10037596|ICD10:N16|ICD10:N12|ICD9:590.80|SCTID:45816000|DOID:11400|GARD:0012020|MESH:D011704|UMLS:C0034186 owl:Class MONDO:0001786 biolink:NamedThing uterine inflammatory disease tmpte7i6ely_mondo_relaxed.owl inflammatory disease of the uterus ICD10:N71.9|ICD9:615.9|DOID:13736|UMLS:C0269047|SCTID:28783002 owl:Class MONDO:0011980 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, 1|AITD1|autoimmune thyroid disease, susceptibility to, type 1 UMLS:C1842446|OMIM:608173 owl:Class MONDO:0005588 biolink:NamedThing chemotherapy-induced oral mucositis Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment. tmpte7i6ely_mondo_relaxed.owl EFO:0006313 owl:Class MONDO:0004329 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. tmpte7i6ely_mondo_relaxed.owl pancreatic non-invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia UMLS:C1518873|ICDO:8453/2|DOID:7685|NCIT:C41251 owl:Class MONDO:0004286 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl pancreatic intraductal papillary-mucinous neoplasm|intraductal papillary mucinous neoplasm|pancreatic IPMN|IPMN|pancreatic intraductal papillary-mucinous tumor UMLS:C1518869|DOID:7575|NCIT:C38342|ONCOTREE:IPMN owl:Class MONDO:0017334 biolink:NamedThing 12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. tmpte7i6ely_mondo_relaxed.owl deletion 12q15q21.1|monosomy 12q15q21.1|Del(12)(q15)(q21.1) ICD10:Q93.5|UMLS:CN202984|UMLS:C4518344|SCTID:734030009|Orphanet:289513 owl:Class MONDO:0060777 biolink:NamedThing cervical fibroepithelial polyp A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium. tmpte7i6ely_mondo_relaxed.owl uterine cervix fibroepithelial polyp|Cervical fibroepithelial polyp NCIT:C40200|UMLS:C1516413 owl:Class UBERON:0034873 biolink:NamedThing bodily gas tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016979 biolink:NamedThing MRCS syndrome MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. tmpte7i6ely_mondo_relaxed.owl microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome Orphanet:263347|OMIM:193220 owl:Class MONDO:0014598 biolink:NamedThing developmental and epileptic encephalopathy, 31 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. tmpte7i6ely_mondo_relaxed.owl EIEE31|early infantile epileptic encephalopathy caused by mutation in DNM1|DNM1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 31|DEE31|epileptic encephalopathy, early infantile, 31 DOID:0080437|OMIM:616346|UMLS:C4225357|Orphanet:2382 owl:Class MONDO:0016260 biolink:NamedThing uterine corpus rhabdomyosarcoma A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl body of uterus rhabdomyosarcoma|body of uterus rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of body of uterus|rhabdomyosarcoma of the corpus uteri|uterine corpus rhabdomyosarcoma NCIT:C127058|UMLS:C4288047|ICD10:C54.2|Orphanet:213615 owl:Class UBERON:0012430 biolink:NamedThing tunica fibrosa of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004527 biolink:NamedThing congenital granular cell tumor An instance of granular cell tumor that is present from birth. tmpte7i6ely_mondo_relaxed.owl congenital granular cell tumor DOID:8303 owl:Class GO:0033157 biolink:NamedThing regulation of intracellular protein transport Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013449 biolink:NamedThing Leber congenital amaurosis 7 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis 7|Leber congenital amaurosis caused by mutation in CRX|Leber congenital amaurosis type 7|LCA7|CRX Leber congenital amaurosis Orphanet:65|UMLS:C3151192|GARD:0010880|ICD10:H35.5|OMIM:613829|DOID:0110333 https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7 owl:Class MONDO:0007328 biolink:NamedThing choroidal osteoma, bilateral tmpte7i6ely_mondo_relaxed.owl choroidal osteoma, bilateral UMLS:C1861558|MESH:C566124|OMIM:118865 owl:Class MONDO:0024345 biolink:NamedThing pityriasis streptogenes tmpte7i6ely_mondo_relaxed.owl pityriasis streptogenes ICD9:696.5|SCTID:200994002 owl:Class UBERON:0005253 biolink:NamedThing head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001055 biolink:NamedThing conjunctival pterygium tmpte7i6ely_mondo_relaxed.owl web eye DOID:10526 owl:Class MONDO:0021335 biolink:NamedThing carcinoma of duodenum A carcinoma that involves the duodenum. tmpte7i6ely_mondo_relaxed.owl cancer of duodenum|cancer of the duodenum|duodenal carcinoma|carcinoma of duodenum|carcinoma of the duodenum|duodenal cancer|duodenum carcinoma SCTID:254570009|NCIT:C4803 owl:Class MONDO:0001512 biolink:NamedThing intermittent proptosis tmpte7i6ely_mondo_relaxed.owl intermittent exophthalmos ICD10:H05.25|SCTID:49774006|UMLS:C0155270|DOID:12363|ICD9:376.34 owl:Class HGNC:1940 biolink:NamedThing CHM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005828 biolink:NamedThing listeriosis A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. tmpte7i6ely_mondo_relaxed.owl infection by Listeria monocytogenes|Listeria monocytogenes infection|Listeria monocytogenes caused disease or disorder|Listeria infection|Listeria monocytogenes disease or disorder|Listeria monocytogenes infectious disease GARD:0006915|ICD10:A32.0|ICD10:A32.9|DOID:11573|ICD10:A32.1|Orphanet:533|ICD10:A32|MedDRA:10024641|ICD10:A32.7|EFO:0007347|MESH:D008088|ICD9:027.0|UMLS:C0023860|NCIT:C82994|ICD10:A32.8 owl:Class HGNC:866 biolink:NamedThing ATP6V0A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009192 biolink:NamedThing Wolcott-Rallison syndrome Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. tmpte7i6ely_mondo_relaxed.owl Wolcott-Rallison syndrome|epiphyseal dysplasia multiple with early-onset diabetes mellitus|WRS|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|Med-Iddm syndrome|Iddm-Med syndrome|MED-IDDM syndrome|Wolcott Rallison syndrome|IDDM-MED syndrome|early-onset diabetes mellitus with multiple epiphyseal dysplasia SCTID:254066006|GARD:0005589|UMLS:C0432217|Orphanet:1667|OMIM:226980|ICD10:E13|NCIT:C131007|MESH:C536739|DOID:0090060 https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus owl:Class MONDO:0014504 biolink:NamedThing Perrault syndrome 5 Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene. tmpte7i6ely_mondo_relaxed.owl TWNK Perrault syndrome|PRLTS5|Perrault syndrome type 5|Perrault syndrome 5|Perrault syndrome caused by mutation in TWNK Orphanet:2855|OMIM:616138|UMLS:C4015307 owl:Class MONDO:0019988 biolink:NamedThing pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. tmpte7i6ely_mondo_relaxed.owl pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody ICD10:N05.7|Orphanet:97563|UMLS:CN206923 owl:Class MONDO:0019641 biolink:NamedThing pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. tmpte7i6ely_mondo_relaxed.owl Orphanet:93126|ICD10:N05.7 owl:Class UBERON:0015146 biolink:NamedThing manus hair tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010328 biolink:NamedThing alpha-thalassemia-myelodysplastic syndrome Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). tmpte7i6ely_mondo_relaxed.owl Hemoglobin H disease, acquired|ATMDS|acquired hemoglobin H disease|ALPHA-thalassemia myelodysplasia syndrome|acquired HbH disease ICD10:D56.0|Orphanet:231401|ICD10:D46.7|MESH:C563023|SCTID:307343001|OMIM:300448|ICD9:282.49|UMLS:C0585216 owl:Class MONDO:0005528 biolink:NamedThing inborn vitamin metabolic disorder An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn error of vitamin metabolic process|inborn vitamin metabolic process disorder|vitamin metabolic disorder|rare inborn error of vitamin metabolic process EFO:0005596|DOID:0050718 owl:Class GO:1901401 biolink:NamedThing regulation of tetrapyrrole metabolic process Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of tetrapyrrole metabolism owl:Class HGNC:11109 biolink:NamedThing SMARCE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016930 biolink:NamedThing partial trisomy/tetrasomy of chromosome 9 tmpte7i6ely_mondo_relaxed.owl partial duplication/triplication of chromosome 9|partial trisomy/tetrasomy of chromosome type 9 Orphanet:262643 owl:Class MONDO:0700016 biolink:NamedThing chromosome 9 disorder Chromosomal disorder in which chromosome 9 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0006829 biolink:NamedThing leukemoid reaction A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. tmpte7i6ely_mondo_relaxed.owl SCTID:56478004|UMLS:C0023501|MedDRA:10024373|MESH:D007955|EFO:1001014|NCIT:C3185|ICD9:288.62|ICD10:D72.823|ICD9:288.8 Represents a finding, may be obsoleted. owl:Class HGNC:11164 biolink:NamedThing SNRPN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100401 biolink:NamedThing acute myeloid leukemia, del(5q31-q32) Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.) tmpte7i6ely_mondo_relaxed.owl AML, del(5q31-q32)|AML, del(5)(q31-q32)|AML, del(5)(q31q32)|AML, 5q31-32 Deletion NCIT:C168769 owl:Class HGNC:2026 biolink:NamedThing CLCNKA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037739 biolink:NamedThing benign neoplasm of cauda equina A benign neoplasm that involves the cauda equina. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of cauda equina UMLS:C0686404|SCTID:92047003 owl:Class MONDO:0014154 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate C Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, recessive Intermediate C|RI-CMTC|Charcot-Marie-Tooth disease, recessive Intermediate type C|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5|CMTRIC|PLEKHG5 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate type C|RI-CMT type C|Charcot-Marie-Tooth disease, recessive intermediate C|autosomal recessive intermediate Charcot-Marie-Tooth disease type C DOID:0110198|UMLS:C3809309|Orphanet:369867|ICD10:G60.0|OMIM:615376 owl:Class GO:0099529 biolink:NamedThing neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098960 biolink:NamedThing postsynaptic neurotransmitter receptor activity Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission. tmpte7i6ely_mondo_relaxed.owl neurotransmitter receptor activity involved in chemical synaptic transmission owl:Class HGNC:19 biolink:NamedThing AANAT tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35106 biolink:NamedThing nitrogen hydride tmpte7i6ely_mondo_relaxed.owl nitrogen hydrides owl:Class HGNC:303 biolink:NamedThing AEBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011932 biolink:NamedThing hypotrichosis 6 Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene. tmpte7i6ely_mondo_relaxed.owl HYPT6|autosomal recessive localized hypotrichosis|monilethrix-like hypotrichosis|hypotrichosis type 6|hypotrichosis caused by mutation in DSG4|Lah1|hypotrichosis, localized, autosomal recessive 1|Htl|hypotrichosis 6|hypotrichosis, localized, autosomal recessive|DSG4 hypotrichosis MESH:C564312|UMLS:C1842839|Orphanet:55654|DOID:0110703|OMIM:607903 owl:Class MONDO:0020477 biolink:NamedThing progeria-associated arthropathy tmpte7i6ely_mondo_relaxed.owl Orphanet:99706 owl:Class GO:0048634 biolink:NamedThing regulation of muscle organ development Any process that modulates the frequency, rate or extent of muscle development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003768 biolink:NamedThing signet ring cell variant cervical mucinous adenocarcinoma A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells. tmpte7i6ely_mondo_relaxed.owl cervical mucinous adenocarcinoma, signet Ring cell variant|signet ring mucinous carcinoma|cervical mucinous adenocarcinoma, signet Ring cell type DOID:6101|NCIT:C40205|ONCOTREE:SCEMU|UMLS:C1516424 owl:Class MONDO:0031010 biolink:NamedThing odontochondrodysplasia 2 with hearing loss and diabetes tmpte7i6ely_mondo_relaxed.owl ODCD2 OMIM:619269 owl:Class MONDO:0016206 biolink:NamedThing idiopathic uveal effusion syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:209956|UMLS:CN200962 owl:Class MONDO:0007870 biolink:NamedThing labia minora, incomplete adhesion of tmpte7i6ely_mondo_relaxed.owl labia minora, incomplete adhesion of OMIM:149600 owl:Class GO:0050728 biolink:NamedThing negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. tmpte7i6ely_mondo_relaxed.owl anti-inflammatory response|downregulation of inflammatory response|inhibition of inflammatory response|down regulation of inflammatory response|down-regulation of inflammatory response owl:Class GO:0031090 biolink:NamedThing organelle membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. tmpte7i6ely_mondo_relaxed.owl intracellular membrane owl:Class MONDO:0019776 biolink:NamedThing Juberg-Marsidi syndrome Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpte7i6ely_mondo_relaxed.owl juberg Marsidi syndrome Orphanet:93972|OMIM:309580|SCTID:721875000 owl:Class MONDO:0011862 biolink:NamedThing hereditary spastic paraplegia 24 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 24, autosomal recessive|SPG24|hereditary spastic paraplegia type 24|spastic paraplegia 24|autosomal recessive spastic paraplegia type 24|autosomal recessive spastic paraplegia 24 OMIM:607584|MESH:C564375|ICD10:G11.4|Orphanet:101004|DOID:0110775|UMLS:C1843569|GARD:0009296 owl:Class MONDO:0004963 biolink:NamedThing T-cell acute lymphoblastic leukemia Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl T-ALL|acute T-cell lymphoblastic leukemia|T acute lymphoblastic leukemia|acute T cell lymphocytic leukemia|T-cell acute lymphocytic leukemia|acute T-cell lymphocytic leukemia|acute T cell lymphoblastic leukemia|acute T-cell leukemia|acute T cell leukemia|T-cell ALL|precursor T-lymphoblastic leukemia|T-cell acute lymphoblastic leukemia|precursor T-lymphoblastic leukemia (T-cell ALL)|T-cell type acute leukemia NCIT:C3183|ICDO:9837/3|DOID:0050523|EFO:0000209|DOID:5603|HGNC:5056 owl:Class MONDO:0001296 biolink:NamedThing acquired night blindness An instance of night blindness that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired night blindness DOID:11491|ICD10:H53.62|ICD9:368.62|SCTID:53808001 owl:Class CL:0002617 biolink:NamedThing adipocyte of breast A fat cell that is part of the breast. tmpte7i6ely_mondo_relaxed.owl fat cell of breast|breast adipocyte CALOHA:TS-2377 Adipocytes found in the subcutaneous adipose tissue of breast. The breast consists of three main components, the skin, the subcutaneous adipose tissue and the functional glandular tissue that comprises both parenchyma and stroma.[CALOHA] tmeehan 2011-03-14T10:17:07Z cell owl:Class MONDO:0002587 biolink:NamedThing encapsulated thymoma A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics. tmpte7i6ely_mondo_relaxed.owl encapsulated thymoma UMLS:C1333383|NCIT:C7386|DOID:3278 owl:Class MONDO:0006456 biolink:NamedThing thymoma A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl THYM|thymoma|thymoma (disease)|primary thymic epithelial tumor|primary thymic epithelial neoplasm thymoma (disease) ICDO:8580/1|DOID:3275|ICD9:239.89|NCIT:C3411|ICD10:D15.0|EFO:1000581|MedDRA:10043670|SCTID:444231005|Orphanet:99867|HP:0100522|ICD10:D38.4|ONCOTREE:THYM|UMLS:C0040100|OMIM:274230 owl:Class MONDO:0010118 biolink:NamedThing inherited threoninemia tmpte7i6ely_mondo_relaxed.owl threoninemia|hyperthreoninemia OMIM:273770 owl:Class MONDO:0010477 biolink:NamedThing blepharophimosis - intellectual disability syndrome, MKB type The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. tmpte7i6ely_mondo_relaxed.owl OHDOX|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|BMRS, Maat-Kievit-Brunner type|Ohdo syndrome, X-linked|X-linked Ohdo syndrome|BMRS, MKB type|blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type ICD9:759.89|Orphanet:293707|SCTID:699297004|UMLS:C3698541|OMIM:300895 owl:Class GO:0071695 biolink:NamedThing anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0021700 biolink:NamedThing developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032896 biolink:NamedThing spermatogenic failure 42 tmpte7i6ely_mondo_relaxed.owl SPGF42|SPERMATOGENIC FAILURE 42 OMIM:618745 owl:Class UBERON:0001077 biolink:NamedThing transverse process of vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006061 biolink:NamedThing process of vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000139 biolink:NamedThing 45-year-old human stage Middle aged stage that refers to an adult who is over 45 and under 46. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017721 biolink:NamedThing Sandhoff disease, infantile form tmpte7i6ely_mondo_relaxed.owl infantile GM2 gangliosidosis 0 variant|Hexosaminidases A and B deficiency, infantile form OMIM:268800|UMLS:CN203617|Orphanet:309155|ICD10:E75.0 owl:Class MONDO:0008695 biolink:NamedThing chorea-acanthocytosis Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. tmpte7i6ely_mondo_relaxed.owl chorea-acanthocytosis|neuroacanthocytosis|Chac|choreaacanthocytosis|choreoacanthocytosis|acanthocytosis with neurologic disorder|choreo-acanthocytosis|CHOREOACANTHOCYTOSIS|Levine-Critchley syndrome|chorea acanthocytosis DOID:0050766|ICD9:333.0|ICD10:E78.6|SCTID:66881004|Orphanet:2388|GARD:0003956|OMIM:200150 owl:Class MONDO:0000698 biolink:NamedThing gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. tmpte7i6ely_mondo_relaxed.owl DOID:0060176 owl:Class GO:0017111 biolink:NamedThing nucleoside-triphosphatase activity Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate. tmpte7i6ely_mondo_relaxed.owl nucleoside triphosphate phosphohydrolase activity|NTPase activity|nucleoside triphosphate hydrolase activity|nucleoside triphosphatase activity|apyrase activity|unspecific diphosphate phosphohydrolase activity|nucleoside-5-triphosphate phosphohydrolase activity|nucleoside 5-triphosphatase activity owl:Class MONDO:0012680 biolink:NamedThing nephronophthisis 7 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis (disease) caused by mutation in GLIS2|nephronophthisis 7|nephronophthisis type 7|GLIS2 nephronophthisis (disease)|NPHP7 DOID:0111116|UMLS:C1969092|OMIM:611498|MESH:C566930|Orphanet:655 owl:Class MONDO:0004484 biolink:NamedThing gallbladder melanoma A melanoma that arises from the gallbladder. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of gallbladder|gallbladder malignant melanoma|melanoma of gallbladder|gall bladder melanoma|malignant melanoma of the gallbladder|melanoma (disease) of gall bladder|gall bladder melanoma (disease)|gallbladder melanoma|melanoma of the gallbladder UMLS:C1333749|NCIT:C5735|DOID:8167 owl:Class MONDO:0016681 biolink:NamedThing gliosarcoma A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). tmpte7i6ely_mondo_relaxed.owl glioblastoma with sarcomatous component|glioblastoma with a sarcomatous component|gliosarcoma|sarcomatous glioblastoma ICDO:9442/3|GARD:0005653|MESH:D018316|MedDRA:10018340|ONCOTREE:GSARC|EFO:1001465|DOID:3071|UMLS:C0206726|Orphanet:251576|ICD10:G71.9|NCIT:C3796 https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma owl:Class MONDO:0002501 biolink:NamedThing brain glioblastoma A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl grade IV astrocytic tumor of the brain|brain glioblastoma multiforme (disease)|glioblastoma multiforme of the brain|brain glioblastoma (disease)|brain glioblastoma|grade IV brain astrocytic neoplasm|glioblastoma (disease) of brain|grade IV astrocytic tumor of brain|grade IV astrocytic neoplasm of the brain|glioblastoma multiforme of brain|brain glioblastoma multiforme|grade IV astrocytic neoplasm of brain|grade IV brain astrocytic tumor EFO:0006545|DOID:3073|SCTID:276828006|NCIT:C4642|UMLS:C0349543 owl:Class GO:0022848 biolink:NamedThing acetylcholine-gated cation-selective channel activity Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. tmpte7i6ely_mondo_relaxed.owl ionotropic acetylcholine receptor activity|acetylcholine-activated cation-selective channel activity|nAChR|acetylcholine-gated cation channel activity|nicotinic acetylcholine-activated cation-selective channel activity|nicotinergic acetylcholine receptor activity owl:Class GO:0005231 biolink:NamedThing excitatory extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001871 biolink:NamedThing food product analog tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017025 biolink:NamedThing Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl Langerhans cell histiocytosis|childhood Langerhans cell histiocytosis|histiocytosis X specific to childhood|Langerhans cell granulomatosis specific to childhood NCIT:C114483|Orphanet:264724|UMLS:C3899655 owl:Class MONDO:0006573 biolink:NamedThing lipodystrophy A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. tmpte7i6ely_mondo_relaxed.owl lipodsystrophic syndromes|lipodsystrophic syndrome|lipodystrophy|lipodystrophy (disease) lipodystrophy (disease) ICD10:E88.1|NCIT:C97093|MESH:D008060|SCTID:71325002|UMLS:C0023787|EFO:1000727|Wikipedia:Lipodystrophy|DOID:811|HP:0009125|ICD9:272.6 owl:Class MONDO:0015636 biolink:NamedThing dirofilariasis Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. tmpte7i6ely_mondo_relaxed.owl Dirofilaria caused disease or disorder|Dirofilaria disease or disorder|Dirofilaria infectious disease|infection by Dirofilaria Orphanet:166291|MESH:D004184|SCTID:73328005|ICD10:B74.8|ICD9:125.6|UMLS:C0012602|DOID:1082|GARD:0011908|EFO:0007239 https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis owl:Class MONDO:0013672 biolink:NamedThing chromosome 15q25 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 15q25 deletion syndrome DOID:0060396|UMLS:C3280355|OMIM:614294 owl:Class CHEBI:50629 biolink:NamedThing cyclooxygenase 2 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2. tmpte7i6ely_mondo_relaxed.owl PGHS-2 inhibitor|COX-2 inhibitor|cyclooxygenase 2 inhibitors|prostaglandin-endoperoxide synthase 2 inhibitors|cyclo-oxygenase-2 inhibitor|COX-2 inhibitors|prostaglandin H synthase-2 inhibitor|cyclooxygenase-2 inhibitor|PGHS-2 inhibitors|cyclo-oxygenase 2 inhibitors|prostaglandin-endoperoxide synthase 2 inhibitor|cyclo-oxygenase-2 inhibitors|cyclo-oxygenase 2 inhibitor|cyclooxygenase-2 inhibitors|prostaglandin H synthase-2 inhibitors owl:Class CHEBI:35544 biolink:NamedThing EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes. tmpte7i6ely_mondo_relaxed.owl prostaglandin endoperoxide synthetase inhibitors|prostaglandin synthetase inhibitors|COX inhibitor|PG synthetase inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitor|cyclooxygenase inhibitors|EC 1.14.99.1 (cyclooxygenase) inhibitors|prostaglandin endoperoxide synthetase inhibitor|prostaglandin G/H synthase inhibitors|(PG)H synthase inhibitor|cyclooxygenase (EC 1.14.99.1) inhibitor|prostaglandin synthetase inhibitor|fatty acid cyclooxygenase inhibitors|fatty acid cyclooxygenase inhibitor|cyclooxygenase (EC 1.14.99.1) inhibitors|EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors|prostaglandin synthase inhibitors|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor|(PG)H synthase inhibitors|cyclooxygenase inhibitor|PG synthetase inhibitors|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors|EC 1.14.99.1 inhibitor|EC 1.14.99.1 inhibitors|prostaglandin synthase inhibitor|prostaglandin G/H synthase inhibitor owl:Class MONDO:0006825 biolink:NamedThing kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) tmpte7i6ely_mondo_relaxed.owl kuru encephalopathy Orphanet:454745|OMIM:245300|ICD10:A81.81|MedDRA:10023497|DOID:648|ICD10:A81.8|UMLS:C0022802|EFO:1001008|ICD9:046.0|MESH:D007729|SCTID:86188000|GARD:0007617 https://rarediseases.info.nih.gov/diseases/7617/kuru owl:Class MONDO:0003874 biolink:NamedThing ovarian serous surface papillary adenocarcinoma A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. tmpte7i6ely_mondo_relaxed.owl serous surface papillary carcinoma of the ovary|ovarian serous surface papillary adenocarcinoma|ovary papillary carcinoma|serous surface papillary carcinoma of ovary UMLS:C1335178|DOID:6408|NCIT:C6256 owl:Class MONDO:0005211 biolink:NamedThing ovarian serous adenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. tmpte7i6ely_mondo_relaxed.owl ovarian serous adenocarcinoma|serous carcinoma of the ovary|ovarian serous carcinoma|serous adenocarcinoma of the ovary|serous carcinoma of ovary|serous ovarian cancer|serous adenocarcinoma of ovary|ovary serous adenocarcinoma DOID:5744|DOID:0050933|NCIT:C40025|NCIT:C7550|ONCOTREE:SOC|EFO:0002917 MONDO:0003625 owl:Class MONDO:0042969 biolink:NamedThing partial duplication of the long arm of chromosome 12 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial trisomy 12q|trisomy 12q|12q duplication|chromosome 12q duplication|Duplication 12q|12q trisomy UMLS:C0795846|MESH:C538300|GARD:0001926 owl:Class GO:0008366 biolink:NamedThing axon ensheathment Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. tmpte7i6ely_mondo_relaxed.owl cellular nerve ensheathment|cellular axon ensheathment|nerve ensheathment owl:Class MONDO:0013233 biolink:NamedThing spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging. tmpte7i6ely_mondo_relaxed.owl Hjd|spondyloepimetaphyseal dysplasia, Handigodu type|Handigodu JOINT disease Orphanet:99642|ICD10:Q77.7|UMLS:C3150545|OMIM:613343 owl:Class CHEBI:23132 biolink:NamedThing chlorobenzenes Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033046 biolink:NamedThing Meier-Gorlin syndrome 8 tmpte7i6ely_mondo_relaxed.owl MGORS8|Meier-Gorlin syndrome 8 DOID:0080255|OMIM:617564|UMLS:C4479655 owl:Class MONDO:0014595 biolink:NamedThing developmental and epileptic encephalopathy, 30 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 30|SIK1 early infantile epileptic encephalopathy|EIEE30|early infantile epileptic encephalopathy caused by mutation in SIK1|DEE30|epileptic encephalopathy, early infantile, 30 Orphanet:3451|UMLS:C4225360|Orphanet:1935|OMIM:616341|DOID:0080465 owl:Class HGNC:9706 biolink:NamedThing NECTIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007674 biolink:NamedThing glucose-6-phosphate dehydrogenase-like tmpte7i6ely_mondo_relaxed.owl glucose-6-phosphate dehydrogenase-like|G6PDL OMIM:138110 owl:Class MONDO:0005798 biolink:NamedThing HIV-associated nephropathy Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. tmpte7i6ely_mondo_relaxed.owl HIV nephropathy|AIDS-related nephropathy|AIDS-associated nephropathy|HIVAN NCIT:C26918|MESH:D016263|EFO:0007313|UMLS:C0078911 owl:Class MONDO:0005363 biolink:NamedThing focal segmental glomerulosclerosis A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. tmpte7i6ely_mondo_relaxed.owl FGS|FSGS|FGS (focal glomerular sclerosis)|FSGS - focal segmental glomerulosclerosis|focal glomerular sclerosis|focal glomerulosclerosis OMIM:616032|UMLS:CN043606|OMIM:616220|SCTID:236403004|OMIMPS:603278|OMIM:603965|OMIM:613237|OMIM:616002|OMIM:607832|ICD9:582.1|NCIT:C37308|GARD:0006517|MESH:D005923|EFO:0004236|OMIM:614131|OMIM:612551|DOID:1312 owl:Class NCBITaxon:1648 biolink:NamedThing Erysipelothrix rhusiopathiae tmpte7i6ely_mondo_relaxed.owl Bacillus rhusiopathiae suis|Erysipelothrix murisepticus|Erysipelothrix insidiosa|Bacterium rhusiopathiae|Bacillus insidiosus|Erysipelothrix erysipeloides|Erysipelothrix porci PMID:8427802|PMID:1503975|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1647 biolink:NamedThing Erysipelothrix tmpte7i6ely_mondo_relaxed.owl PMID:7537073|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011699 biolink:NamedThing inflammatory bowel disease 8 An inflammatory bowel disease that has material basis in variation in the chromosome region 16p. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 8|inflammatory bowel disease 8|IBD8 MESH:C564682|UMLS:C1847719|DOID:0110904|OMIM:606668 owl:Class MONDO:0016866 biolink:NamedThing partial deletion of chromosome 1 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 1|partial monosomy of chromosome 1 Orphanet:261766|ICD10:Q93.5 owl:Class MONDO:0010498 biolink:NamedThing MEND syndrome tmpte7i6ely_mondo_relaxed.owl Male EBP disorder with neurological defects|Male EBP disorder with neurologic defects|MEND|MEND syndrome UMLS:C4085243|OMIM:300960|ICD10:Q87.8|Orphanet:401973 owl:Class MONDO:0003904 biolink:NamedThing lung occult squamous cell carcinoma A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpte7i6ely_mondo_relaxed.owl occult squamous cell lung carcinoma|occult squamous cell carcinoma of the lung|occult squamous cell carcinoma of lung NCIT:C6686|UMLS:C1335100|DOID:6510 owl:Class HP:0002651 biolink:NamedThing Spondyloepimetaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:254062008|UMLS:C0432211 human_phenotype owl:Class HP:0002652 biolink:NamedThing Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues. tmpte7i6ely_mondo_relaxed.owl Abnormal skeletal development UMLS:C0029422|SNOMEDCT_US:105985007|MSH:D010009|UMLS:C4280567|SNOMEDCT_US:240190009 The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. HP:0005685 human_phenotype owl:Class MONDO:0008324 biolink:NamedThing pseudoarthrogryposis tmpte7i6ely_mondo_relaxed.owl pseudoarthrogryposis|hereditary congenital rigidity of elbows and knees|ankylosis at elbow and knee OMIM:177300|UMLS:C1867485|MESH:C566753 owl:Class MONDO:0001428 biolink:NamedThing pylorospasm tmpte7i6ely_mondo_relaxed.owl SCTID:335002|UMLS:C0152163|DOID:12072|ICD9:537.81 owl:Class MONDO:0014410 biolink:NamedThing spinocerebellar ataxia type 37 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. tmpte7i6ely_mondo_relaxed.owl SCA37|spinocerebellar ataxia with altered vertical eye movements|spinocerebellar ataxia 37 GARD:0012368|OMIM:615945|Orphanet:363710|DOID:0050984|ICD10:G11.8|UMLS:C4304821|SCTID:719301002|UMLS:C3889636 owl:Class MONDO:0044794 biolink:NamedThing benign melanocytic skin nevus A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus. tmpte7i6ely_mondo_relaxed.owl benign melanocytic nevus of the skin|benign nevus of the skin|benign nevus of skin|benign melanocytic nevus|benign melanocytic nevus of skin|benign mole|benign skin nevus|benign melanocytic skin nevus NCIT:C7571|UMLS:C1456781 Editor note: TODO logical def owl:Class MONDO:0015840 biolink:NamedThing complete septate uterus Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. tmpte7i6ely_mondo_relaxed.owl total septate uterus Orphanet:180126|ICD10:Q51.2 owl:Class MONDO:0015839 biolink:NamedThing septate uterus tmpte7i6ely_mondo_relaxed.owl MedDRA:10062606|Orphanet:180122|ICD10:Q51.2|SCTID:22504001 owl:Class MONDO:0014203 biolink:NamedThing primary ciliary dyskinesia 25 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia type 25|primary ciliary dyskinesia 25 with or without situs inversus|ciliary dyskinesia, primary, 25, with or without situs inversus|ciliary dyskinesia, primary, type 25|ciliary dyskinesia, primary, 25|primary ciliary dyskinesia caused by mutation in DNAAF4|CILD25|DNAAF4 primary ciliary dyskinesia ICD10:Q34.8|DOID:0110615|OMIM:615482|UMLS:C3809641 owl:Class GO:0051461 biolink:NamedThing positive regulation of corticotropin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell. tmpte7i6ely_mondo_relaxed.owl positive regulation of adrenotropic hormone secretion|positive regulation of adrenocorticotropic hormone secretion|positive regulation of adrenotropin secretion|stimulation of adrenocorticotropin secretion|upregulation of adrenocorticotropin secretion|positive regulation of corticotropic hormone secretion|positive regulation of adrenocorticotropin secretion|up regulation of adrenocorticotropin secretion|positive regulation of ACTH secretion|up-regulation of adrenocorticotropin secretion|activation of adrenocorticotropin secretion owl:Class MONDO:0032623 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 18 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18|MC1DN18 OMIM:618240 owl:Class GO:0006289 biolink:NamedThing nucleotide-excision repair A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). tmpte7i6ely_mondo_relaxed.owl intrastrand cross-link repair|NER|pyrimidine-dimer repair, DNA damage excision owl:Class MONDO:0002182 biolink:NamedThing communication disorder A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. tmpte7i6ely_mondo_relaxed.owl communicative disorders ICD9:307.9|NCIT:C2958|DOID:2033|MESH:D003147|ICD10:F80.9|SCTID:278919001 https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels owl:Class MONDO:0006669 biolink:NamedThing bacterial endocarditis Endocarditis that is caused by an infection with a bacterial agent. tmpte7i6ely_mondo_relaxed.owl bacterial endocarditis (disease)|Bacteria endocarditis (disease)|Bacteria caused endocarditis (disease)|bacterial endocarditis bacterial endocarditis (disease) NCIT:C128359|UMLS:C0014121|MESH:D004697|EFO:1000830|SCTID:301183007|MedDRA:10004019|HP:0006689 owl:Class MONDO:0009642 biolink:NamedThing orofaciodigital syndrome type II Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. tmpte7i6ely_mondo_relaxed.owl MOHR syndrome|Mohr syndrome|orofaciodigital syndrome type 2|orofaciodigital syndrome 2|oral-Facial-digital syndrome, type 2|oral facial digital syndrome 2|OFD2|OFD syndrome 2|Ofds 2|oral-facial-digital syndrome type 2|oral facial digital syndrome type 2|orofaciodigital syndrome II ICD10:Q87.0|GARD:0003701|OMIM:252100|Orphanet:2751|SCTID:1779005|ICD9:759.89 owl:Class MONDO:0007205 biolink:NamedThing diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). tmpte7i6ely_mondo_relaxed.owl DMSMFH|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|Hardcastle's syndrome|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|diaphyseal medullary stenosis with malignant fibrous histiocytoma|diaphyseal medullary stenosis-bone malignancy syndrome|bone dysplasia with malignant fibrous histiocytoma|Hardcastle syndrome|bone dysplasia-medullary fibrosarcoma syndrome|BDMF|DMS-MFH GARD:0010072|Orphanet:85182|UMLS:C1862177|OMIM:112250|NCIT:C122660|ICD10:M89.8 owl:Class MONDO:0008236 biolink:NamedThing phlebectasia of lips tmpte7i6ely_mondo_relaxed.owl phlebectasia of lips OMIM:171450|UMLS:C1868391|MESH:C566806 owl:Class MONDO:0007958 biolink:NamedThing familial medullary thyroid carcinoma An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl Mtc1|hereditary medullary thyroid gland carcinoma|hereditary thyroid medullary carcinoma|thyroid carcinoma, familial medullary|familial MTC|Fmtc|MTC|familial medullary thyroid carcinoma DOID:0050547|Orphanet:653|OMIM:155240|UMLS:C1833921|MESH:C536911|Orphanet:99361|ICD10:C73 owl:Class MONDO:0012712 biolink:NamedThing dystonia with cerebellar atrophy tmpte7i6ely_mondo_relaxed.owl dystonia with cerebellar atrophy|DYTCA MESH:C567131|UMLS:C2673697|OMIM:611694 owl:Class MONDO:0003959 biolink:NamedThing breast large cell neuroendocrine carcinoma A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl breast large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of breast UMLS:C1511316|NCIT:C40356|DOID:6657 owl:Class MONDO:0054838 biolink:NamedThing cardiomyopathy, familial hypertrophic 27 tmpte7i6ely_mondo_relaxed.owl CMH27|cardiomyopathy, FAMILIAL hypertrophic 27 UMLS:CN252335|OMIM:618052 owl:Class CL:0000155 biolink:NamedThing peptic cell A cell that is usually basal in position, cuboidal with round nucleus, short microvilli, secretes pepsinogen. tmpte7i6ely_mondo_relaxed.owl gastric chief cell|pepsinogen secreting cell|chief cell of stomach|zymogenic cell FMA:62902 cell owl:Class UBERON:0004947 biolink:NamedThing submucosa of right main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0000003 biolink:NamedThing whole plant A plant structure (PO:0005679) which is a whole organism. tmpte7i6ely_mondo_relaxed.owl prothallus (narrow)|herb (narrow)|genet (broad)|frutex (narrow)|gametophyte (narrow)|clonal colony (related)|seedling (narrow)|frutices (narrow)|liana (narrow)|sporophyte (narrow)|植物体全体 (Japanese, exact)|colony (related)|suffrutices (narrow)|suffrutex (narrow)|prothalli (narrow)|vine (narrow)|woody clump (narrow)|shrub (narrow)|bush (narrow)|tree (narrow)|planta entera (Spanish, exact)|prothallium (narrow)|ramet (broad) PO_GIT:69|PO_GIT:538 Examples include plant embryo (PO:0009009), megagametophyte (PO:0025279) and microgametophyte (PO:0025280). plant_anatomy owl:Class CL:0000062 biolink:NamedThing osteoblast Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. tmpte7i6ely_mondo_relaxed.owl FMA:66780|BTO:0001593|CALOHA:TS-0720 non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 cell owl:Class HGNC:16466 biolink:NamedThing SUFU tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019680 biolink:NamedThing genochondromatosis type 2 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. tmpte7i6ely_mondo_relaxed.owl UMLS:C4511481|Orphanet:93398|SCTID:725904009|OMIM:137360|UMLS:CN206604 owl:Class MONDO:0007653 biolink:NamedThing genochondromatosis tmpte7i6ely_mondo_relaxed.owl genochondromatosis OMIM:137360|MESH:C563215|UMLS:C1300229|Orphanet:85197|Orphanet:93398|GARD:0010621|SCTID:389264005 https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis owl:Class MONDO:0005854 biolink:NamedThing mixed connective tissue disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. tmpte7i6ely_mondo_relaxed.owl mixed collagen vascular disease|sharp syndrome|MCTD|connective tissue disease overlap syndrome Orphanet:809|SCTID:398049005|ICD10:M35.1|NCIT:C84892|MedDRA:10027754|DOID:3492|MESH:D008947|EFO:0007374|UMLS:C0026272|GARD:0007051 https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease owl:Class MONDO:0002728 biolink:NamedThing rhabdoid tumor An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl malignant rhabdoid tumour|rhabdoid tumor|malignant rhabdoid tumor|rhabdoid cancer|rhabdoid sarcoma NCIT:C3808|EFO:0005701|DOID:3672|OMIM:613325|ONCOTREE:MRT|MESH:D018335|UMLS:C0206743|GARD:0007572|Orphanet:69077|OMIM:609322|ICD10:C49.9|ICDO:8963/3 owl:Class NCBITaxon:1457286 biolink:NamedThing Dorylaimia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:119088 biolink:NamedThing Enoplea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0001693 biolink:NamedThing increased viscosity A viscosity which relatively high. tmpte7i6ely_mondo_relaxed.owl high viscosity owl:Class MONDO:0002509 biolink:NamedThing non-specific granulomatous orchitis Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena. tmpte7i6ely_mondo_relaxed.owl granulomatous orchitis DOID:3089|SCTID:50390006|UMLS:C0436545|NCIT:C27162 owl:Class MONDO:0006927 biolink:NamedThing Rickettsiaceae infectious disease Infections with bacteria of the family rickettsiaceae. tmpte7i6ely_mondo_relaxed.owl rickettsialpox|Rickettsiaceae infection|Rickettsiaceae caused disease or disorder|Rickettsiaceae disease or disorder|infection, Rickettsiaceae|infections, Rickettsiaceae EFO:1001128|MESH:D012288 owl:Class CHEBI:29412 biolink:NamedThing oxonium tmpte7i6ely_mondo_relaxed.owl trihydridooxygen(1+)|Hydronium ion|H3O(+)|oxidanium|oxonium|Hydronium cation|aquahydrogen(1+)|[OH3](+) owl:Class UBERON:0013122 biolink:NamedThing distal epiphysis of phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8000007 biolink:NamedThing right side of back tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012190 biolink:NamedThing nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome|nephropathy with pretibial epidermolysis bullosa and deafness OMIM:609057|UMLS:C1836823|Orphanet:300333|MESH:C563798 owl:Class MONDO:0014387 biolink:NamedThing leukoencephalopathy, progressive, with ovarian failure tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy, progressive, with ovarian failure|LKENP OMIM:615889|UMLS:C4014588 owl:Class MONDO:0018162 biolink:NamedThing neurometabolic disorder due to serine deficiency Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. tmpte7i6ely_mondo_relaxed.owl serine deficiency|neurometabolic disorder due to serine deficiency ICD10:E72.8|UMLS:CN227274|Orphanet:35705 This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it. MONDO:0019058 https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000 owl:Class MONDO:0005477 biolink:NamedThing ventricular tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) tmpte7i6ely_mondo_relaxed.owl ICD10:I47.2|SCTID:25569003|EFO:0005306|UMLS:C0042514|MESH:D017180|NCIT:C50802 owl:Class GO:0071623 biolink:NamedThing negative regulation of granulocyte chemotaxis Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4838 biolink:NamedThing SERPIND1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:186538 biolink:NamedThing Zaire ebolavirus tmpte7i6ely_mondo_relaxed.owl ZEBOV|Zaire Ebola virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186536 biolink:NamedThing Ebolavirus tmpte7i6ely_mondo_relaxed.owl Ebola-like viruses GC_ID:1 ncbi_taxonomy owl:Class CL:1000426 biolink:NamedThing chromaffin cell of adrenal gland A chromaffin cell that is part of the adrenal gland. tmpte7i6ely_mondo_relaxed.owl adrenal chromaffin cell FMA:69794 cell owl:Class UBERON:0005225 biolink:NamedThing upper leg epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:37989 biolink:NamedThing Xylariales tmpte7i6ely_mondo_relaxed.owl Sphaeriales GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:222545 biolink:NamedThing Xylariomycetidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022682 biolink:NamedThing cennamo gangemi syndrome tmpte7i6ely_mondo_relaxed.owl hydrocephalus cataract microphthalmos GARD:0001179 https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome owl:Class MONDO:0010722 biolink:NamedThing X-linked retinal dysplasia tmpte7i6ely_mondo_relaxed.owl PRD|retinal dysplasia, primary|retinal dysplasia X-linked ICD10:Q14.1|OMIM:312550|Orphanet:1852|UMLS:C4275241|GARD:0004680|SCTID:715240000 https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked owl:Class MONDO:0006519 biolink:NamedThing rectal cancer A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the rectum|rectum cancer|malignant rectal tumor|carcinoma of rectum|malignant rectum tumor|malignant rectal neoplasm|cancer of rectum|malignant neoplasm of the rectum|malignant neoplasm of rectum|malignant rectum neoplasm|malignant tumor of rectum|carcinoma of the rectum EFO:1000657|SCTID:254582000|ICD10:C20|ICD9:154.1|MESH:D012004|DOID:1993|SCTID:363351006|NCIT:C7418 owl:Class MONDO:0019579 biolink:NamedThing discrete papular lichen myxedematosus Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. tmpte7i6ely_mondo_relaxed.owl UMLS:C4273967|SCTID:717258005|Orphanet:90394|ICD10:L98.5 owl:Class HP:0000044 biolink:NamedThing Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpte7i6ely_mondo_relaxed.owl Isolated hypogonadotropic hypogonadism|Hypogonadotrophic hypogonadism|Low gonadotropins (secondary hypogonadism) MSH:D007006|UMLS:C0271623|SNOMEDCT_US:33927004|UMLS:C3489396 HP:0008224|HP:0003335 human_phenotype owl:Class MONDO:0008420 biolink:NamedThing seborrheic keratosis A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. tmpte7i6ely_mondo_relaxed.owl basal cell papilloma|keratosis, seborrheic|keratosis Seborrheica EFO:0005584|NCIT:C9006|Wikipedia:Seborrheic_keratosis|UMLS:C0022603|OMIM:182000|ICD10:L82|SCTID:394727000|GARD:0003108|MESH:D017492|ICD9:702.1|ICD10:L82.1|DOID:6498 owl:Class HGNC:18622 biolink:NamedThing COG7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007768 biolink:NamedThing hyperparathyroidism 2 with jaw tumors An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism type 2|hyperparathyroidism 2|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hyperparathyroidism-jaw tumor syndrome, hereditary|parathyroid adenomatosis, familial cystic|hyperparathyroidism-jaw tumor syndrome|familial primary hyperparathyroidism with multiple ossifying jaw fibromas|hyperparathyroidism 2 with jaw tumors|HRPT2|hyperparathyroidism-2|hereditary hyperparathyroidism-jaw tumor syndrome|HPT-JT UMLS:C1704981|Orphanet:99880|ICD10:E21.0|NCIT:C48287|GARD:0010829|OMIM:145001|SCTID:702378002 https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome owl:Class MONDO:0006189 biolink:NamedThing eccrine porocarcinoma A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites. tmpte7i6ely_mondo_relaxed.owl porocarcinoma|epidermotropic eccrine carcinoma|malignant eccrine poroma|eccrine porocarcinoma of skin|eccrine porocarcinoma|porocarcinoma/spiroadenocarcinoma MESH:D057090|UMLS:C1266065|SCTID:254708001|GARD:0007431|NCIT:C5560|ICDO:8409/3|ONCOTREE:POCA|DOID:7566|EFO:1000229 https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma owl:Class MONDO:0018635 biolink:NamedThing idiopathic phalangeal acro-osteolysis tmpte7i6ely_mondo_relaxed.owl idiopathic phalangeal acroosteolysis ICD10:M89.5|Orphanet:444316 owl:Class MONDO:0012870 biolink:NamedThing chromosome 2q31.2 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 2q31.2 deletion syndrome UMLS:C2676724|OMIM:612345|DOID:0060416|MESH:C567344 owl:Class MONDO:0006045 biolink:NamedThing ovarian clear cell adenocarcinoma A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. tmpte7i6ely_mondo_relaxed.owl ovary clear cell adenocarcinoma|clear cell adenocarcinoma of ovary|clear cell adenocarcinoma of the ovary|ovarian clear cell adenocarcinoma SCTID:763131005|NCIT:C40078|EFO:1000042|UMLS:CN205034|ICD10:C56|Orphanet:398971|DOID:5304|UMLS:C1518693 owl:Class MONDO:0005280 biolink:NamedThing prostatitis An infectious or non-infectious inflammatory process affecting the prostate gland. tmpte7i6ely_mondo_relaxed.owl prostatitis (disease)|prostatitis|prostate gland inflammation|inflammation of prostate gland prostatitis (disease) ICD9:601.4|MESH:D011472|ICD9:601|HP:0000024|ICD9:601.8|ICD10:N41.9|ICD9:601.9|UMLS:C0033581|DOID:14654|ICD10:N41|EFO:0003830|NCIT:C26866|SCTID:9713002 owl:Class MONDO:0012211 biolink:NamedThing MPDU1-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. tmpte7i6ely_mondo_relaxed.owl CDG 1F|congenital disorder of glycosylation, type If|CDG1F|CDG If|MPDU1-CDG (CDG-If)|CDGIf|CDG syndrome type If|carbohydrate deficient glycoprotein syndrome type If|congenital disorder of glycosylation type 1f|carbohydrate-deficient glycoprotein syndrome type 1F|congenital disorder of glycosylation type If|CDG-If UMLS:C1836669|ICD10:E77.8|Orphanet:79323|DOID:0080558|NCIT:C126872|GARD:0009832|OMIM:609180|SCTID:724096007|MESH:C535744 owl:Class MONDO:0018435 biolink:NamedThing acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. tmpte7i6ely_mondo_relaxed.owl AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2) GARD:0012759|Orphanet:402020|ICD10:C92.0 https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262 owl:Class MONDO:0056795 biolink:NamedThing X-linked spermatogenic failure 1 tmpte7i6ely_mondo_relaxed.owl Germinal cell aplasia|SPGFX1|spermatogenic failure, X-linked, 1|spermatogenic failure, X-linked, type 1|Sertoli cell-only syndrome|Del Castillo syndrome DOID:0070189|OMIM:305700 https://github.com/monarch-initiative/mondo/issues/3633 owl:Class MONDO:0017380 biolink:NamedThing juvenile polyposis syndrome Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. tmpte7i6ely_mondo_relaxed.owl polyposis familial of entire gastrointestinal tract|PJI|juvenile polyposis|JIP|juvenile gastrointestinal polyposis|juvenile intestinal polyposis|juvenile multiple polyps syndrome|jPS|juvenile polyposis syndrome|polyposis juvenile intestinal UMLS:C0345893|OMIM:612242|ICD10:D12.6|OMIM:174900|NCIT:C7754|OMIM:175050|SCTID:9273005|Orphanet:2929|GARD:0003065 https://github.com/monarch-initiative/mondo/issues/3685 owl:Class HGNC:4385 biolink:NamedThing GNAI2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017963 biolink:NamedThing 46,XX disorder of sex development induced by endogenous maternal-derived androgen tmpte7i6ely_mondo_relaxed.owl 46,XX DSD induced by endogenous maternal-derived androgen Orphanet:325093|UMLS:CN227227|ICD10:Q56.2 owl:Class MONDO:0005085 biolink:NamedThing pterygium A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder. tmpte7i6ely_mondo_relaxed.owl surfer's eye|pterygium of conjunctiva and cornea EFO:0000678|NCIT:C133744|ICD10:H11.009|ICD9:372.4|ICD9:372.40|ICD10:H11.0|MESH:D011625|DOID:0002116|ICD10:H11.00|UMLS:C0033999|SCTID:77489003 owl:Class MONDO:0016262 biolink:NamedThing leiomyosarcoma of the corpus uteri An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of corpus uteri|uterine body leiomyosarcoma|leiomyosarcoma of uterus|leiomyosarcoma of body of uterus|uterine corpus leiomyosarcoma|corpus uteri leiomyosarcoma|leiomyosarcoma - uterus|leiomyosarcoma of uterine corpus|uterine leiomyosarcoma|body of uterus leiomyosarcoma|leiomyosarcoma of the uterine corpus|leiomyosarcoma of the corpus uteri|uterus leiomyosarcoma|leiomyosarcoma of the uterine body|leiomyosarcoma of the uterus|leiomyosarcoma of the body of uterus|leiomyosarcoma of uterine body Orphanet:213625|SCTID:447389009|ONCOTREE:ULMS|UMLS:C0280631|NCIT:C6340|DOID:5289|ICD10:C54.2 owl:Class MONDO:0014589 biolink:NamedThing maturity-onset diabetes of the young type 13 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene. tmpte7i6ely_mondo_relaxed.owl MODY type 13|KCNJ11 maturity-onset diabetes of the young (disease)|MODY, type 13|MODY13|maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|maturity-onset diabetes of the young, type 13 UMLS:C4225365|DOID:0111110|OMIM:616329 owl:Class UBERON:0005688 biolink:NamedThing lens vesicle cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023283 biolink:NamedThing ovarian granulosa cell tumor A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. tmpte7i6ely_mondo_relaxed.owl GCT of the ovary|granulosa theca cell tumor|ovarian granulosa cell tumor|granulosa cell tumor of ovary|granulosa cell neoplasm of the ovary|ovary granulosa cell tumor|adult granulosa cell tumor of the ovary|granulosa cell neoplasm of ovary|ovarian granulosa cell neoplasm|granulosa cell tumor of the ovary|granulosa theca cell tumor of the ovary SCTID:254863004|EFO:1000421|MESH:C537296|UMLS:C1370419|NCIT:C6261 owl:Class NCIT:C36278 biolink:NamedThing Finding by Site or System tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0040307 biolink:NamedThing Male sexual dysfunction A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpte7i6ely_mondo_relaxed.owl human_phenotype owl:Class HP:0012874 biolink:NamedThing Abnormal male reproductive system physiology An abnormal functionality of the male genital system. tmpte7i6ely_mondo_relaxed.owl Abnormal male genital system physiology UMLS:C4020716 hecht 2014-06-09T11:20:46Z human_phenotype owl:Class MONDO:0001977 biolink:NamedThing ureteral lymphoma A lymphoma that involves the ureter. tmpte7i6ely_mondo_relaxed.owl lymphoma of the ureter|ureter lymphoma|ureteral lymphoma|lymphoma of ureter|primary ureter lymphoma DOID:14489|NCIT:C6175|UMLS:C1336876 owl:Class MONDO:0014606 biolink:NamedThing intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). tmpte7i6ely_mondo_relaxed.owl autosomal dominant intellectual disability 37|White-Sutton syndrome|autosomal dominant mental retardation 37|mental retardation, autosomal dominant 37|WHITE-Sutton syndrome|intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|WHSUS|mental retardation, autosomal dominant type 37|intellectual disability, autosomal dominant 37|intellectual disability, autosomal dominant type 37|MRD37 Orphanet:468678|EFO:0009079|OMIM:616364|DOID:0070067 owl:Class MONDO:0002383 biolink:NamedThing Pacinian tumor A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles. tmpte7i6ely_mondo_relaxed.owl Pacinian neurofibroma|Pacinian tumor (morphologic abnormality) SCTID:404033003|UMLS:C0334599|ICD9:215.9|DOID:2669|NCIT:C4328|ICDO:9507/0 owl:Class MONDO:0002495 biolink:NamedThing colon signet ring cell adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. tmpte7i6ely_mondo_relaxed.owl signet Ring cell colon adenocarcinoma|colon signet ring adenocarcinoma|signet Ring cell adenocarcinoma of the colon|colonic signet Ring cell adenocarcinoma|colonic signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of colon|colon signet Ring cell adenocarcinoma NCIT:C7967|UMLS:C1707436|DOID:3033 owl:Class MONDO:0044336 biolink:NamedThing colorectal signet ring cell carcinoma An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate. tmpte7i6ely_mondo_relaxed.owl colorectal signet Ring cell carcinoma UMLS:C1707440|NCIT:C43586 owl:Class MONDO:0042911 biolink:NamedThing Schwartz-Cohen-addad-Lambert syndrome tmpte7i6ely_mondo_relaxed.owl congenital melanocytosis with myelomeningocele and hydrocephalus|Schwartz Cohen-Addad Lambert syndrome MESH:C535835|GARD:0000253|UMLS:C2931036 owl:Class GO:0001809 biolink:NamedThing positive regulation of type IV hypersensitivity Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl stimulation of type IV hypersensitivity|activation of type IV hypersensitivity|upregulation of type IV hypersensitivity|up-regulation of type IV hypersensitivity|up regulation of type IV hypersensitivity owl:Class GO:0001807 biolink:NamedThing regulation of type IV hypersensitivity Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021547 biolink:NamedThing amelogenesis imperfecta type 3B tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, type IIIB|amelogenesis imperfecta, type 3B|AI3B Orphanet:100032|DOID:0080243|OMIM:617607|UMLS:CN373594 owl:Class MONDO:0008345 biolink:NamedThing idiopathic pulmonary fibrosis Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. tmpte7i6ely_mondo_relaxed.owl IPF|CFA|familial idiopathic pulmonary fibrosis|usual interstitial pneumonia|interstitial pneumonitis, usual|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia|pulmonary fibrosis, idiopathic|Hamman-rich disease|idiopathic pulmonary fibrosis, familial|UIP|fibrosing alveolitis|cryptogenic fibrosing alveolitis 2022-05-01 OMIM:614742|OMIM:178500|MedDRA:10021240|Orphanet:79126|Orphanet:2032|OMIM:616373|ICD10:J84.112|EFO:0000768|SCTID:196125002|ICD9:516.31|GARD:0008609|MESH:D054990|NCIT:C35716|ICD10:J84.1|DOID:0050156|OMIM:616371 This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0031199. MONDO:800029 interstitial lung disease 2 will be added as the more specific subclass. https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis owl:Class MONDO:0100137 biolink:NamedThing telomere syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. tmpte7i6ely_mondo_relaxed.owl short telomere syndrome|STS owl:Class MONDO:0015879 biolink:NamedThing non-syndromic diaphragmatic or thoracic malformation tmpte7i6ely_mondo_relaxed.owl isolated diaphragmatic or thoracic malformation|nonsyndromic diaphragmatic or thoracic malformation Orphanet:180776 owl:Class UBERON:0007771 biolink:NamedThing epidermis gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011002 biolink:NamedThing Osteopetrosis Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. tmpte7i6ely_mondo_relaxed.owl Albers-Schoenberg disease|Albers-Schönberg disease|Albers-Schonberg disease|Marble bone disease|Harder, denser, fracture-prone bones MSH:D010022|SNOMEDCT_US:367489004|SNOMEDCT_US:1926006|UMLS:C0029454 sdoelken 2011-02-13T11:58:36Z human_phenotype owl:Class MONDO:0011587 biolink:NamedThing cataract 25 A cataract that has material basis in variation in the region 15q21-q22. tmpte7i6ely_mondo_relaxed.owl cataract type 25|central pouch-like cataract with sutural opacities|CCSSO|cataract, central pouch-like, with sutural opacities|central saccular cataract with sutural opacities|cataract, central saccular, with sutural opacities|cataract 25|CTRCT25 MESH:C565301|Orphanet:98985|OMIM:605728|Orphanet:91492|ICD10:Q12.0|DOID:0110254 owl:Class MONDO:0020372 biolink:NamedThing early-onset sutural cataract tmpte7i6ely_mondo_relaxed.owl early-onset cataract with Y-shaped suture opacities Orphanet:98985|OMIM:605728|ICD10:Q12.0 owl:Class OBO:CHR_9606-chr2q32-q33 biolink:NamedThing 2q32-q33 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class CHEBI:25698 biolink:NamedThing ether An organooxygen compound with formula ROR, where R is not hydrogen. tmpte7i6ely_mondo_relaxed.owl ethers|ether owl:Class MONDO:0008041 biolink:NamedThing myoclonic epilepsy, Hartung type tmpte7i6ely_mondo_relaxed.owl myoclonic epilepsy, Hartung type MESH:C563550|OMIM:159600|UMLS:C1834581 owl:Class MONDO:0100041 biolink:NamedThing secondary trimethylaminuria A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://rarediseases.org/rare-diseases/trimethylaminuria/|https://github.com/monarch-initiative/mondo/issues/3448 owl:Class MONDO:0016702 biolink:NamedThing oligoastrocytoma A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) tmpte7i6ely_mondo_relaxed.owl WHO grade II mixed glioma|oligoastrocytoma|mixed astrocytoma-oligodendroglioma|mixed oligoastrocytoma|MOA|mixed astrocytic-oligodendroglial tumor|glioma, mixed, benign|mixed oligodendroglioma-astrocytoma|mixed oligo-astrocytoma|mixed astrocytic-oligodendroglial neoplasm NCIT:C4050|EFO:0000630|MedDRA:10027744|DOID:7912|UMLS:C0280793|ONCOTREE:OAST|MESH:D009837|SCTID:716647001|GARD:0009769|ICD10:C71.9|Orphanet:251656 https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma owl:Class MONDO:0015421 biolink:NamedThing orofaciodigital syndrome type 12 Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. tmpte7i6ely_mondo_relaxed.owl oral facial digital syndrome 12|orofaciodigital syndrome 12|oral-facial-digital syndrome 12|oral facial digital syndrome type 12|orofaciodigital syndrome XII|OFD12|OFDS 12|Moran-Barroso syndrome|oral-facial-digital syndrome type 12 Orphanet:141327|GARD:0010693|MESH:C548034|ICD10:Q87.0|UMLS:C2932679|SCTID:763834000 owl:Class MONDO:0014841 biolink:NamedThing trichothiodystrophy 6, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene. tmpte7i6ely_mondo_relaxed.owl TTD6|GTF2E2 nonphotosensitive trichothiodystrophy|trichothiodystrophy 6, nonphotosensitive|nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|trichothiodystrophy 6, nonphotosensitive; TTD6 UMLS:C4310785|OMIM:616943 owl:Class UBERON:0036243 biolink:NamedThing vaginal fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017791 biolink:NamedThing high bone mass osteogenesis imperfecta tmpte7i6ely_mondo_relaxed.owl high bone mass OI Orphanet:314029|ICD10:Q78.0|UMLS:CN203741 owl:Class MONDO:0005017 biolink:NamedThing diffuse gastric adenocarcinoma An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. tmpte7i6ely_mondo_relaxed.owl diffuse adenocarcinoma of stomach|diffuse stomach adenocarcinoma|adenocarcinoma of linitis plastica type|diffuse gastric adenocarcinoma|adenocarcinoma of the linitis plastica type|stomach diffuse type adenocarcinoma|diffuse adenocarcinoma of the stomach|carcinoma, diffuse type|diffuse type stomach adenocarcinoma|carcinoma, diffuse type (morphologic abnormality)|gastric diffuse adenocarcinoma DOID:6217|EFO:0000402|ONCOTREE:DSTAD|NCIT:C9159|NCIT:C4127 owl:Class HGNC:2464 biolink:NamedThing VCAN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006635 biolink:NamedThing Acinetobacter infectious disease Infections with bacteria of the genus acinetobacter. tmpte7i6ely_mondo_relaxed.owl Mimae infection|Mimae infections|Acinetobacter infection|Acinetobacter disease or disorder|infection, Mimae|infections, Mimae|infections, Acinetobacter|Acinetobacter caused disease or disorder|infection, Acinetobacter MESH:D000151|DOID:3091|EFO:1000792|UMLS:C0001139 owl:Class MONDO:0045001 biolink:NamedThing cardiac ventricle disorder A disease or disorder that involves the cardiac ventricle. tmpte7i6ely_mondo_relaxed.owl disease or disorder of cardiac ventricle|cardiac ventricle disease or disorder|disorder of cardiac ventricle|disease of cardiac ventricle|cardiac ventricle disease SCTID:415991003|UMLS:C1562298 owl:Class MONDO:0014792 biolink:NamedThing Paget disease of bone 6 tmpte7i6ely_mondo_relaxed.owl PDB6|Paget disease of bone 6; PDB6|Paget disease of bone 6|Paget disease of bone type 6 OMIM:616833|UMLS:C4085250 owl:Class MONDO:0005382 biolink:NamedThing bone Paget disease A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. tmpte7i6ely_mondo_relaxed.owl Paget disease of bone|bone Paget disease|bone Paget's disease|Pagets disease (bone)|Paget's disease of the bone|Paget's disease of bone|Paget's bone disease|familial Paget's disease of bone|osseous Paget's disease|Paget's disease|osteitis deformans OMIM:167250|Orphanet:280110|UMLS:C0029401|EFO:0004261|SCTID:2089002|DOID:5408|ICD10:M88|NCIT:C3292|OMIMPS:167250|OMIM:602080|OMIM:606263 owl:Class HP:0010989 biolink:NamedThing Abnormality of the intrinsic pathway An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023610 The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. peter 2011-02-08T04:26:55Z human_phenotype owl:Class MONDO:0014689 biolink:NamedThing Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism|KFS4|Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974|OMIM:616549|ICD10:Q76.1|UMLS:C4225285|DOID:0080592 owl:Class MONDO:0007935 biolink:NamedThing cystoid macular edema An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. tmpte7i6ely_mondo_relaxed.owl cystoid macular dystrophy|autosomal dominant cystoid macular edema|familial macular edema|macular dystrophy, dominant cystoid|DCMD|macular edema, cystoid|Mddc UMLS:C0730317|SCTID:312921000|Orphanet:75381|UMLS:C0024440|NCIT:C34794|ICD10:H35.5|OMIM:153880|DOID:4447 owl:Class MONDO:0003005 biolink:NamedThing macular retinal edema Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. tmpte7i6ely_mondo_relaxed.owl edema, macular|retinal edema of macula lutea|macular edema|macula lutea retinal edema DOID:4449|NCIT:C35468|UMLS:C0271051|SCTID:37231002 owl:Class GO:0040020 biolink:NamedThing regulation of meiotic nuclear division Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. tmpte7i6ely_mondo_relaxed.owl regulation of meiosis owl:Class MONDO:0000467 biolink:NamedThing second-degree atrioventricular block Intermittent failure of atrial electrical impulse conduction to the ventricles. tmpte7i6ely_mondo_relaxed.owl second degree atrioventricular block|second-degree heart block|second degree AV block|atrioventricular block, second degree|atrioventricular block second degree|AV block second degree NCIT:C111119|ICD9:426.13|UMLS:C0264906|UMLS:C1621824|SCTID:195042002|DOID:0050822 owl:Class MONDO:0000465 biolink:NamedThing atrioventricular block A heart block that is initiated in the atrioventricular node. tmpte7i6ely_mondo_relaxed.owl AV nodal block|AV block|AVB|atrioventricular block|atrioventricular block (disease) atrioventricular block (disease) HP:0001678|NCIT:C26703|ICD10:I44.3|SCTID:233917008|DOID:0050820|UMLS:C0004245|ICD9:426.10|ICD10:I44.30|MESH:D054537 owl:Class MONDO:0013924 biolink:NamedThing osteogenesis imperfecta type 13 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta caused by mutation in BMP1|OI13|BMP1 osteogenesis imperfecta|osteogenesis imperfecta, type XIII|OI, type 13|osteogenesis imperfecta, type 13|osteogenesis imperfecta type XIII UMLS:C3553887|DOID:0110342|Orphanet:216812|ICD10:Q78.0|OMIM:614856 owl:Class MONDO:0024953 biolink:NamedThing lameness, non-human animal A departure from the normal gait in animals. tmpte7i6ely_mondo_relaxed.owl disorders, animal Gait|animal Lamenesses|animal Gait disorders|Lamenesses, animal|Gait disorder, animal|animal lameness|Gait disorders, animal|animal Gait disorder|disorder, animal Gait MESH:D007794 owl:Class HGNC:19012 biolink:NamedThing CORIN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014662 biolink:NamedThing congenital insensitivity to pain-hypohidrosis syndrome A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34. tmpte7i6ely_mondo_relaxed.owl HSAN 8|hereditary sensory and autonomic neuropathy type 8|CIP-hypohidrosis syndrome|HSAN8|neuropathy, hereditary sensory and autonomic, type VIII|hereditary sensory and autonomic neuropathy type VIII|neuropathy, hereditary sensory and autonomic, type 8 OMIM:616488|UMLS:C4225308|Orphanet:478664|DOID:0070153 owl:Class PATO:0001580 biolink:NamedThing increased contractility A contractility which is relatively high. tmpte7i6ely_mondo_relaxed.owl high contractility owl:Class MONDO:0100196 biolink:NamedThing TPM2-related myopathy A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. tmpte7i6ely_mondo_relaxed.owl TPM2 myopathy|congenital myopathy related to TPM2|autosomal dominant TPM2-related myopathy|TPM2-related myopathy The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001781 biolink:NamedThing uterine corpus adenomatoid tumor A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures. tmpte7i6ely_mondo_relaxed.owl uterine corpus adenomatoid tumor|uterine corpus localized epithelial mesothelioma|body of uterus adenomatoid tumor DOID:1371|NCIT:C27250|UMLS:C1336902 owl:Class MONDO:0011300 biolink:NamedThing myopia 3, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 3, autosomal dominant|MYP3 OMIM:603221|MESH:C566397|UMLS:C1864111 owl:Class MONDO:0032931 biolink:NamedThing pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal tmpte7i6ely_mondo_relaxed.owl PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL|Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive|PHRINL|Phrinl Syndrome OMIM:618810 owl:Class UBERON:0002195 biolink:NamedThing trabecula of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012398 biolink:NamedThing retinal cone dystrophy 3A tmpte7i6ely_mondo_relaxed.owl RCD3A|cone dystrophy with night blindness and supernormal rod responses PDE6H-related|achromatopsia 6|cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|retinal cone dystrophy type 3A|retinal cone dystrophy 3A GARD:0010648|OMIM:610024|MESH:C566483|Orphanet:49382|UMLS:C1864900 Editor note: TODO logical defs for achromatopsias https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a owl:Class UBERON:0006569 biolink:NamedThing diencephalic nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031137 biolink:NamedThing Storage in hepatocytes Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. tmpte7i6ely_mondo_relaxed.owl 2017-06-10 15:30:13+00:00 peter human_phenotype owl:Class HP:0410042 biolink:NamedThing Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. tmpte7i6ely_mondo_relaxed.owl 2017-09-20 00:22:53+00:00 Fyler:4447 ORCID:0000-0001-5208-3432 human_phenotype owl:Class HGNC:19743 biolink:NamedThing POMT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004949 biolink:NamedThing neoplasm of mature B-cells A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). tmpte7i6ely_mondo_relaxed.owl mature B-cell lymphocytic neoplasm|mature B-cell neoplasm|mature B-cell neoplasms NCIT:C27910|DOID:707|EFO:0000096|SCTID:269476000|UMLS:C1334633|DOID:706|ONCOTREE:MBN|NCIT:C3457|NCIT:C3209|MESH:D008224|ICD9:202.0|DOID:0050873 Editor note: is a non-hodgkin in ONCOTREE owl:Class MONDO:0004612 biolink:NamedThing malignant histiocytosis Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells. tmpte7i6ely_mondo_relaxed.owl malignant midline reticulosis|malignant histiocytic disease|histiocytic medullary reticulosis|disorders, malignant histiocytic|malignant histiocytic disorders|histiocytic disorder, malignant|malignant reticulosis|Stewart's granuloma DOID:2570|DOID:8580|MESH:D015620|ICD9:202.3|ICD10:C96.A|ICD10:C96.1|NCIT:C7202|SCTID:118612006|ICDO:9750/3|UMLS:C0019623|EFO:1001499 owl:Class MONDO:0002637 biolink:NamedThing histiocytosis A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. tmpte7i6ely_mondo_relaxed.owl chronic histiocytosis X|histiocytic infiltrate|histiocytic syndrome|histiocytic and dendritic cell neoplasms|hand Schuller Christian disease UMLS:C0019618|NCIT:C3106|MESH:D015614|DOID:3405|ONCOTREE:HDCN owl:Class MONDO:0003925 biolink:NamedThing ethmoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpte7i6ely_mondo_relaxed.owl inverted papilloma of the ethmoid sinus|ethmoid sinus inverted papilloma|inverted papilloma of ethmoid sinus DOID:6562|NCIT:C6843|UMLS:C1333474 owl:Class MONDO:0001628 biolink:NamedThing tinea unguium A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. tmpte7i6ely_mondo_relaxed.owl cellulitis and abscess of gluteal region|cellulitis and abscess of finger|dermatophytic onychia|cellulitis and abscess of face|onychomycosis due to dermatophyte|onychomycosis|cellulitis and abscess|cellulitis and abscess of upper arm and forearm|nail dermatophytosis|cellulitis and abscess of finger and toe|cellulitis and abscess of trunk|cellulitis and abscess of buttock|dermatophytosis of nail|dermatophytic onychomycosis|tinea unguium UMLS:C0157698|UMLS:C0040261|MESH:D014009|UMLS:C0157701|ICD9:681.9|UMLS:C0157691|UMLS:C0157690|NCIT:C112214|ICD10:B35.1|UMLS:C4082762|DOID:13074|UMLS:C0157696 owl:Class MONDO:0011065 biolink:NamedThing Hunter-McAlpine craniosynostosis Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). tmpte7i6ely_mondo_relaxed.owl Hunter-McAlpine syndrome|Hunter-McAlpine craniosynostosis syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature UMLS:C1832408|GARD:0002754|Orphanet:97340|OMIM:601379|MESH:C536072|ICD10:Q87.0|SCTID:721227001 owl:Class GO:2001258 biolink:NamedThing negative regulation of cation channel activity Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity. tmpte7i6ely_mondo_relaxed.owl negative regulation of nonselective cation channel activity|negative regulation of cation diffusion facilitator activity owl:Class IAO:0000178 biolink:NamedThing material information bearer A material entity in which a concretization of an information content entity inheres. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007055 biolink:NamedThing acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. tmpte7i6ely_mondo_relaxed.owl acromicric dysplasia|acromicric skeletal dysplasia|ACMICD ICD9:756.59|OMIM:102370|SCTID:254090007|DOID:0111243|Orphanet:969|ICD10:Q77.8|GARD:0000007|MESH:C535662 https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia owl:Class UBERON:0003551 biolink:NamedThing midbrain pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019789 biolink:NamedThing cytophagic histiocytic panniculitis Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. tmpte7i6ely_mondo_relaxed.owl CHP|Winkelmann cytophagic panniculitis UMLS:C0406594|ICD10:M35.8|SCTID:238883003|Orphanet:94087 owl:Class HsapDv:0000087 biolink:NamedThing human adult stage Human developmental stage that refers to an adult who is over 19. tmpte7i6ely_mondo_relaxed.owl 19+ years owl:Class UBERON:0014852 biolink:NamedThing chorda tendinea of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014577 biolink:NamedThing short-rib thoracic dysplasia 13 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. tmpte7i6ely_mondo_relaxed.owl short-rib thoracic dysplasia 13 with or without polydactyly|SRTD13 Orphanet:474|DOID:0110093|ICD10:Q77.2|UMLS:C4225378|OMIM:616300 owl:Class MONDO:0011147 biolink:NamedThing chromosome 18q deletion syndrome A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. tmpte7i6ely_mondo_relaxed.owl 18Q- syndrome|chromosome 18q deletion syndrome|chromosome 18Q- syndrome|18q deletion syndrome|18Q syndrome|proximal 18q-|partial deletion of chromosome 18q|proximal 18q deletion syndrome|monosomy type 18q|monosomy 18q syndrome|monosomy 18q|chromosome 18q deletion|partial deletion of the long arm of chromosome type 18|partial deletion of the long arm of chromosome 18|proximal chromosome 18q deletion syndrome|18q-syndrome|proximal 18q deletion|deletion 18q|deletion 18q syndrome|partial monosomy of the long arm of chromosome 18|partial monosomy of chromosome 18q UMLS:C0432443|Orphanet:1600|GARD:0013000|ICD9:758.39|OMIM:601808|MESH:C536580|DOID:0060407|SCTID:270889005|Orphanet:262146|ICD10:Q93.5|NCIT:C84522|GARD:0010866 owl:Class UBERON:0009030 biolink:NamedThing left pulmonary vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010331 biolink:NamedThing coronary heart disease, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl coronary heart disease, susceptibility to, 3|coronary heart disease, susceptibility to, type 3|Chds3 OMIM:300464 owl:Class UBERON:0003417 biolink:NamedThing mesenchyme of soft palate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009518 biolink:NamedThing leprosy, susceptibility to, 3 Any leprosy in which the cause of the disease is a mutation in the TLR2 gene. tmpte7i6ely_mondo_relaxed.owl TLR2 leprosy|leprosy, susceptibility to, 3|susceptibility to leprosy 3|LPRS3|leprosy, susceptibility to, type 3|leprosy caused by mutation in TLR2 Orphanet:548|OMIM:246300 owl:Class HGNC:9067 biolink:NamedThing PLD1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030791 biolink:NamedThing Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. tmpte7i6ely_mondo_relaxed.owl UMLS:C4280767 human_phenotype owl:Class MONDO:0000245 biolink:NamedThing tinea imbricata A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. tmpte7i6ely_mondo_relaxed.owl ICD10:B35.5|DOID:0050116|UMLS:C0040255|SCTID:240699006 owl:Class MONDO:0001461 biolink:NamedThing tinea corporis A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin. tmpte7i6ely_mondo_relaxed.owl dermatophytosis of the body|dermatophytosis of the trunk UMLS:C0040252|UMLS:C0546826|ICD9:110.5|ICD10:B35.4|SCTID:84849002|DOID:12179 owl:Class UBERON:3000961 biolink:NamedThing external integument structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010760 biolink:NamedThing XH antigen tmpte7i6ely_mondo_relaxed.owl XH antigen OMIM:314800 owl:Class MONDO:0008944 biolink:NamedThing Joubert syndrome 1 Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome|Joubert syndrome 1|Cerebellooculorenal syndrome 1|Joubert syndrome type 1|Joubert syndrome caused by mutation in INPP5E|cerebellooculorenal syndrome 1|CPD4|Joubert-Boltshauser syndrome|INPP5E Joubert syndrome|JBTS1|cerebelloparenchymal disorder 4|CORS1 UMLS:CN119531|Orphanet:475|DOID:0110980|OMIM:213300 owl:Class MONDO:0037829 biolink:NamedThing purine metabolism disease A disease that has its basis in the disruption of purine nucleobase metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of purine metabolism|purine nucleobase metabolic process disease|disorder of purine nucleobase metabolic process UMLS:C0268104|SCTID:32612005 owl:Class UBERON:0003246 biolink:NamedThing epithelium of endolymphatic sac tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011181 biolink:NamedThing fibrosis of extraocular muscles, congenital, 2 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene. tmpte7i6ely_mondo_relaxed.owl Feom2 locus|PHOX2A congenital fibrosis of extraocular muscles|congenital fibrosis of extraocular muscles caused by mutation in PHOX2A|CFEOM2|fibrosis of extraocular muscles, congenital, type 2|fibrosis of extraocular muscles, congenital, 2|fibrosis of extraocular muscles, congenital, autosomal recessive UMLS:C1865915|OMIM:602078|MESH:C566587|Orphanet:45358 owl:Class MONDO:0017240 biolink:NamedThing acrodysostosis with multiple hormone resistance tmpte7i6ely_mondo_relaxed.owl ICD10:Q75.4|OMIM:614613|Orphanet:280651|UMLS:CN202748|OMIM:101800 owl:Class GO:0002639 biolink:NamedThing positive regulation of immunoglobulin production Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. tmpte7i6ely_mondo_relaxed.owl positive regulation of immunoglobulin secretion|upregulation of immunoglobulin production|activation of immunoglobulin production|positive regulation of immunoglobulin biosynthetic process|up regulation of immunoglobulin production|up-regulation of immunoglobulin production|stimulation of immunoglobulin production owl:Class GO:0002702 biolink:NamedThing positive regulation of production of molecular mediator of immune response Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. tmpte7i6ely_mondo_relaxed.owl up-regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response|stimulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response owl:Class HGNC:24525 biolink:NamedThing MMACHC tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23987 biolink:NamedThing NDUFA12 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010673 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl activation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, meiotic owl:Class MONDO:0013154 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related|muscle-eye-brain-POMT2 related|MDDGA2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Orphanet:588|OMIM:613150|DOID:0111240|UMLS:C3150411|Orphanet:899|NCIT:C126742 owl:Class MONDO:0004208 biolink:NamedThing superior vena cava leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of anterior vena cava|leiomyosarcoma of Superior vena cava|leiomyosarcoma of the Superior vena cava|anterior vena cava leiomyosarcoma NCIT:C6745|UMLS:C1336531|DOID:7390 owl:Class NCBITaxon:5125 biolink:NamedThing Hypocreales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:222543 biolink:NamedThing Hypocreomycetidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:17572334 NCBITaxon:673183 ncbi_taxonomy owl:Class MONDO:0016655 biolink:NamedThing 6p22 microdeletion syndrome 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. tmpte7i6ely_mondo_relaxed.owl monosomy 6p22|Del(6)(p22) SCTID:719662000|UMLS:C4304528|UMLS:CN201884|Orphanet:251046|ICD10:Q93.5 owl:Class MONDO:0004406 biolink:NamedThing adult central nervous system mixed germ cell tumor A mixed germ cell tumor of central nervous system that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult central nervous system mixed germ cell tumor|mixed germ cell tumor of central nervous system of adults|Central nervous system Mixed germ cell tumor|adult mixed germ cell tumor of central nervous system DOID:7945|UMLS:C1332195|NCIT:C27402 owl:Class MONDO:0011193 biolink:NamedThing cone dystrophy 3 Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene. tmpte7i6ely_mondo_relaxed.owl GUCA1A cone dystrophy|cone-rod dystrophy 14|retinal cone dystrophy|COD3|cone dystrophy type 3|cone dystrophy caused by mutation in GUCA1A|cone dystrophy 3 UMLS:C1865869|Orphanet:1871|OMIM:602093|DOID:0080314|Orphanet:1872 owl:Class MONDO:0013227 biolink:NamedThing congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. tmpte7i6ely_mondo_relaxed.owl plasminogen activator INHIBITOR-1 deficiency|congenital PAI-1 deficiency|plasminogen activator inhibitor type 1 deficiency|hyperfibrinolysis due to Pai1 deficiency|congenital plasminogen activator inhibitor type 1 deficiency SCTID:717407006|GARD:0004381|OMIM:613329|Orphanet:465|ICD10:D68.8|NCIT:C133884|MESH:C567640 owl:Class MONDO:0009058 biolink:NamedThing cystathioninuria Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. tmpte7i6ely_mondo_relaxed.owl cystathioninuria (disease)|gamma-cystathionase deficiency|cystathione gamma-lyase deficiency syndrome|cystathionase deficiency|cystathioninuria|Cystathione gamma-lyase deficiency syndrome cystathioninuria (disease) GARD:2428|HP:0003153|NCIT:C129070|UMLS:C0220993|OMIM:219500|DOID:0090142|UMLS:C3495552|SCTID:13003007|UMLS:C0268616|Orphanet:212|ICD10:E72.1|GARD:0002428 owl:Class GO:0042359 biolink:NamedThing vitamin D metabolic process The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpte7i6ely_mondo_relaxed.owl calciferol metabolic process|ergocalciferol metabolic process|cholecalciferol metabolic process|vitamin D metabolism|calciferol metabolism|cholecalciferol metabolism|ergocalciferol metabolism owl:Class HP:0001371 biolink:NamedThing Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. tmpte7i6ely_mondo_relaxed.owl Joint contractures|Flexion contractures|Contracture|Flexion contractures of joints|Joint contracture|Contractures|Flexed joint that cannot be straightened SNOMEDCT_US:385522000|UMLS:C0009917|SNOMEDCT_US:7890003|SNOMEDCT_US:57048009|SNOMEDCT_US:55033002|SNOMEDCT_US:88565003|UMLS:C0009918|SNOMEDCT_US:203598005|MSH:D003286|UMLS:C0333068|UMLS:C1850530 HP:0005660|HP:0005053|HP:0001372|HP:0001381|HP:0005189 human_phenotype owl:Class PO:0009084 biolink:NamedThing pericarp A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall. tmpte7i6ely_mondo_relaxed.owl fruit rind (related)|pericarpo (Spanish, exact)|fruit peel (related)|果皮 (Japanese, exact)|portion of pericarp tissue (exact) PO_GIT:511|PO_GIT:149 Pericarp comprises endocarp (PO:0009086), mesocarp (PO:0009087), and exocarp (PO:0009085) layers, each of which can be fleshy or dry. If you are annotating to this term, please add an additional annotation to the specific type of fruit (PO:0009001), such as achene fruit (PO:0030107), berry fruit (PO:0030108), capsule fruit (PO:0030091), caryopsis fruit (PO:0030104), drupe fruit (PO:0030103), follicle fruit (PO:0030105), legume fruit (PO:0030100), nut fruit (PO:0030102), samara fruit (PO:0030099), schizocarp fruit (PO:0030098), silique fruit (PO:0030106), or their subclasses, depending on the species. plant_anatomy owl:Class CHEBI:15372 biolink:NamedThing 5,6,7,8-tetrahydrobiopterin tmpte7i6ely_mondo_relaxed.owl 5,6,7,8-TETRAHYDROBIOPTERIN|Tetrahydrobiopterin|5,6,7,8-tetrahydrobiopterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one|5,6,7,8-Tetrahydrobiopterin|BH4 owl:Class MONDO:0016090 biolink:NamedThing late-infantile/juvenile Krabbe disease tmpte7i6ely_mondo_relaxed.owl Krabbe disease, late-onset ICD10:E75.2|SCTID:41142009|Orphanet:206443|UMLS:CN200855 owl:Class GO:0043011 biolink:NamedThing myeloid dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013111 biolink:NamedThing acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. tmpte7i6ely_mondo_relaxed.owl acute infantile liver failure|TRMU infantile liver failure|liver failure, infantile, transient|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins|LFIT|transient infantile liver failure|infantile liver failure caused by mutation in TRMU OMIM:613070|UMLS:C3278664|ICD10:K72.0|GARD:0010593|Orphanet:217371 Editor note: add transient course owl:Class MONDO:0011510 biolink:NamedThing Bohring-Opitz syndrome Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. tmpte7i6ely_mondo_relaxed.owl Opitz trigonocephaly-like syndrome|BOHRING-Opitz syndrome|Bos syndrome|Bohring-Opitz syndrome|Oberklaid-Danks syndrome|BOPS|C-like syndrome|Bohring syndrome SCTID:720565000|MESH:C537419|ICD10:Q87.8|OMIM:605039|UMLS:C0796232|GARD:0010140|NCIT:C131533|Orphanet:97297 https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome owl:Class MONDO:0007748 biolink:NamedThing hypercalciuria, absorptive, 2 tmpte7i6ely_mondo_relaxed.owl HCA2|hypercalciuria, absorptive, 2|hypercalciuria, familial idiopathic|hypercalciuria, absorptive, type 2 Orphanet:2197|MESH:C562790|ICD9:V18.19|SCTID:237886009|OMIM:143870 owl:Class MONDO:0016352 biolink:NamedThing idiopathic inherited hypercalciuria tmpte7i6ely_mondo_relaxed.owl idiopathic hypercalciuria ICD10:E83.5|OMIM:143870|OMIM:607258|Orphanet:2197 Editor note: consider grouping class owl:Class MONDO:0009016 biolink:NamedThing band keratopathy The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. tmpte7i6ely_mondo_relaxed.owl band keratopathy|corneal dystrophy, band-SHAPED|band-shaped keratopathy SCTID:35055000|NCIT:C118765|ICD10:H18.42|OMIM:217500|MESH:C562399|DOID:11164|ICD9:371.43|UMLS:C0155120 owl:Class MONDO:0001515 biolink:NamedThing corneal degeneration tmpte7i6ely_mondo_relaxed.owl SCTID:111521006|ICD10:H18.40|ICD10:H18.4|ICD9:371.49|ICD9:371.40|DOID:1237|ICD9:371.4|UMLS:C0155118 owl:Class HP:0007369 biolink:NamedThing Atrophy/Degeneration affecting the cerebrum The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. tmpte7i6ely_mondo_relaxed.owl UMLS:C4024898 peter 2008-04-01T10:28:00Z human_phenotype owl:Class MONDO:0012767 biolink:NamedThing age related macular degeneration 11 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. tmpte7i6ely_mondo_relaxed.owl macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|age related macular degeneration type 11|ARMD11|macular degeneration, age-related, 11|age-related macular degeneration caused by mutation in CST3 OMIM:611953|MESH:C567450|UMLS:C2677774|DOID:0110023 owl:Class MONDO:0008776 biolink:NamedThing amyloidosis of gingiva and conjunctiva, with intellectual disability tmpte7i6ely_mondo_relaxed.owl amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva, with intellectual disability|Hornova Dlushosova syndrome|amyloidosis of gingiva and conjunctiva with mental retardation|amyloidosis of gingiva and conjunctiva with intellectual disability OMIM:204850|MESH:C565958|UMLS:C1859815|GARD:0000657 https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability owl:Class MONDO:0008241 biolink:NamedThing phosphoglycoprotein 1 tmpte7i6ely_mondo_relaxed.owl phosphoglycoprotein type 1|PGP1|phosphoglycoprotein 1 OMIM:172290 owl:Class MONDO:0004420 biolink:NamedThing breast malignant eccrine spiradenoma A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast. tmpte7i6ely_mondo_relaxed.owl malignant spiradenoma of breast|malignant eccrine spiradenoma of breast|malignant eccrine spiradenoma of the breast|malignant breast eccrine spiradenoma|breast malignant spiradenoma DOID:7983|UMLS:C1334565|NCIT:C5180 owl:Class MONDO:0004412 biolink:NamedThing malignant spiradenoma A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. tmpte7i6ely_mondo_relaxed.owl malignant spiradenoma|malignant eccrine spiradenoma|malignant eccrine spiradenoma (morphologic abnormality)|spiradenoma, malignant|Spiradenocarcinoma DOID:7960|ICDO:8403/3|SCTID:403942003|NCIT:C5117|UMLS:C1266063|GARD:0010466 owl:Class MONDO:0014149 biolink:NamedThing fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. tmpte7i6ely_mondo_relaxed.owl lethal congenital contracture syndrome 5|myopathy, centronuclear, lethal, autosomal recessive|LCCS5|lethal congenital contracture syndrome type 5 ICD10:G71.2|Orphanet:363409|OMIM:615368|UMLS:C3809272|SCTID:763346009 owl:Class HGNC:1968 biolink:NamedThing LYST tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001005 biolink:NamedThing kaolin pneumoconiosis Pneumoconiosis caused by inhalation of kaolin dust. tmpte7i6ely_mondo_relaxed.owl simple kaolinosis|Kaolinosis ICD9:502|NCIT:C35315|GARD:0008355|DOID:10331|SCTID:36696005|UMLS:C0264435 https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis owl:Class MONDO:0032794 biolink:NamedThing leber congenital amaurosis 19 tmpte7i6ely_mondo_relaxed.owl LCA19|LEBER CONGENITAL AMAUROSIS 19 OMIM:618513 owl:Class MONDO:0054726 biolink:NamedThing spermatogenic failure 22 tmpte7i6ely_mondo_relaxed.owl SPGF22|spermatogenic failure 22 OMIM:617706|DOID:0070177 owl:Class MONDO:0001157 biolink:NamedThing dependent personality disorder A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life. tmpte7i6ely_mondo_relaxed.owl DOID:10931|MESH:D003859|SCTID:84466009|ICD9:301.6|NCIT:C92637|ICD10:F60.7 owl:Class MONDO:0006661 biolink:NamedThing ascorbic acid deficiency A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177) tmpte7i6ely_mondo_relaxed.owl MESH:D001206|MedDRA:10047623|SCTID:76169001|ICD10:E54|EFO:1000822|ICD9:267 owl:Class MONDO:0020774 biolink:NamedThing Menke-Hennekam syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:618332|Orphanet:592574 owl:Class MONDO:0003342 biolink:NamedThing benign perivascular tumor A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. tmpte7i6ely_mondo_relaxed.owl benign Pericytic tumor|pericytic neoplasm, benign|benign perivascular tumor|benign perivascular neoplasm|benign pericytic neoplasm|benign Pericytic neoplasm UMLS:C1332532|NCIT:C6529|DOID:5238 owl:Class HGNC:16380 biolink:NamedThing TRIM32 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002466 biolink:NamedThing intestine secretion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018349 biolink:NamedThing MAN1B1-CDG MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). tmpte7i6ely_mondo_relaxed.owl intellectual disability-truncal obesity syndrome|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|congenital disorder of glycosylation type II due to MAN1B1 deficiency|MAN1B1-CDG|carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency ICD10:E77.8|GARD:0012417|SCTID:733450008|UMLS:C4518783|Orphanet:397941 https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg owl:Class MONDO:0043089 biolink:NamedThing acute posterior multifocal placoid pigment epitheliopathy Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications. tmpte7i6ely_mondo_relaxed.owl AMPPE|multifocal placoid pigment epitheliopathy|acute placoid pigment epitheliopathy|acute multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis|amppe - acute multifocal placoid pigment epitheliopathy|acute posterior multifocal placoid pigment epitheliopathy|APMPPE|apmppe|epitheliopathy, acute posterior multifocal placoid pigment SCTID:89188001|UMLS:C0154884|GARD:0002183 owl:Class MONDO:0023833 biolink:NamedThing multifocal choroiditis Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. tmpte7i6ely_mondo_relaxed.owl MESH:C537374|SCTID:414783007|GARD:0009824|UMLS:C1533060 https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis owl:Class MONDO:0008990 biolink:NamedThing cleft larynx, posterior tmpte7i6ely_mondo_relaxed.owl Novak syndrome|laryngotracheoesophageal cleft pulmonary hypoplasia|cleft larynx, posterior|stridor, congenital OMIM:215800|Orphanet:93940|Orphanet:2004|GARD:0004015|Orphanet:2005 owl:Class MONDO:0017595 biolink:NamedThing aggressive B-cell non-Hodgkin lymphoma tmpte7i6ely_mondo_relaxed.owl aggressive B-cell NHL Orphanet:300846 owl:Class CHEBI:39144 biolink:NamedThing Lewis base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. tmpte7i6ely_mondo_relaxed.owl donneur d'une paire d'electrons|Lewis base|base de Lewis|electron donor|Lewis-Base owl:Class MONDO:0020443 biolink:NamedThing absence of innominate vein Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. tmpte7i6ely_mondo_relaxed.owl absence of brachiocephalic vein Orphanet:99112|ICD10:Q26.8 owl:Class MONDO:0012660 biolink:NamedThing susceptibility to visceral leishmaniasis, 2 tmpte7i6ely_mondo_relaxed.owl KAZA2|kala-AZAR, susceptibility to, 2|leishmaniasis, visceral, susceptibility to, 2 OMIM:611381 owl:Class UBERON:0010077 biolink:NamedThing cuboidal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:64895 biolink:NamedThing Borreliella tmpte7i6ely_mondo_relaxed.owl Borrelia burgdorferi group|Borrelia burgdorferi sensu lato|Lyme Disease Borrelia PMID:31836459|PMID:32320380|PMID:16585709|PMID:28141502|PMID:31454394|PMID:7981102|PMID:10515907|PMID:8573491|PMID:24744012|PMID:31722850|PMID:30154058|PMID:27930271|PMID:8934900|PMID:8995795|GC_ID:11|PMID:30586413|PMID:10758897|PMID:9336916 NCBITaxon:1618316 ncbi_taxonomy owl:Class MONDO:0008073 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 1 A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. tmpte7i6ely_mondo_relaxed.owl UMOD-associated FJHN|medullary cystic kidney disease type 2|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|medullary cystic kidney disease 2|nephropathy, familial, with gout|hyperuricemic nephropathy, familial juvenile, type 1|hyperuricemic nephropathy, familial juvenile, 1|UMOD-related kidney disease|FJHN type 1|familial juvenile gouty nephropathy|glomerulocystic kidney disease with hyperuricemia and isosthenuria|hyperuricemic nephropathy, familial juvenile|MCKD2|uromodulin-associated kidney disease|medullary cystic kidney disease type II|UMOD-associated familial juvenile hyperuricemic nephropathy|medullary cystic kidney disease 2, autosomal dominant|gouty nephropathy, familial juvenile|HNFJ1|familial juvenile hyperuricaemic nephropathy|familial nephropathy with gout|UMOD familial juvenile hyperuricemic nephropathy|uromodulin storage disease UMLS:C4054550|NCIT:C123172|SCTID:445503007|UMLS:CN239214|OMIM:603860|Orphanet:209886|EFO:0008618|UMLS:C1835934|MESH:C563693|GARD:0006806|OMIM:162000|OMIM:609886 https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy owl:Class GO:0002445 biolink:NamedThing type II hypersensitivity An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011843 biolink:NamedThing hypertrophic cardiomyopathy 25 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in TCAP|cardiomyopathy, familial hypertrophic, type 25|CMH25|cardiomyopathy familial hypertrophic 25|cardiomyopathy, familial hypertrophic, 25|hypertrophic cardiomyopathy type 25|Tcap hypertrophic cardiomyopathy|TCAP hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in Tcap UMLS:C1843791|OMIM:607487|MESH:C564388|DOID:0110328 owl:Class GO:1901213 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in heart development Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time. tmpte7i6ely_mondo_relaxed.owl regulation of transcription from RNA polymerase II promoter involved in cardiac development|regulation of transcription from Pol II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in dorsal vessel development|global transcription regulation from Pol II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in dorsal vessel development|regulation of transcription from RNA polymerase II promoter, global involved in cardiac development|regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in cardiac development|global transcription regulation from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of global transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in heart development|global transcription regulation from Pol II promoter involved in dorsal vessel development owl:Class MONDO:0010269 biolink:NamedThing Coats disease Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. tmpte7i6ely_mondo_relaxed.owl exudative retinopathy|Coats disease|congenital retinal telangiectasia|Leber miliary aneurysm|Coats' disease|Coats' syndrome|retinal telangiectasis UMLS:C0154832|MESH:D058456|DOID:7765|ICD10:H35.07|SCTID:360455002|ICD10:H35.02|GARD:0006121|ICD10:H35.0|OMIM:300216|ICD9:362.12|MedDRA:10015901|Orphanet:190 https://rarediseases.info.nih.gov/diseases/6121/coats-disease owl:Class UBERON:0015007 biolink:NamedThing cervical vertebra endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002981 biolink:NamedThing peripheral primitive neuroectodermal tumor of bone A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. tmpte7i6ely_mondo_relaxed.owl bone tissue peripheral primitive neuroectodermal tumor|peripheral primitive neuroectodermal tumor of bone tissue|peripheral neuroectodermal tumor of bone|bone peripheral neuroepithelioma|peripheral neuroepithelioma of bone|osseous peripheral neuroepithelioma|peripheral neuroepithelioma of the bone|peripheral neuroectodermal tumor of the bone|peripheral primitive neuroectodermal tumor of bone NCIT:C8776|DOID:4388|UMLS:C0855009 owl:Class MONDO:0021123 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. tmpte7i6ely_mondo_relaxed.owl Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone NCIT:C35871|UMLS:C1333481 owl:Class MONDO:0000688 biolink:NamedThing inherited organic acidemia An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. tmpte7i6ely_mondo_relaxed.owl organic acid metabolism disorder|inborn error of organic acid metabolic process|rare inborn error of organic acid metabolic process|disorder of organic acid metabolism|inborn organic acid metabolic process disorder|organic aciduria|organic acidemia ICD9:277.89|UMLS:C1263739|DOID:0060159|Orphanet:289899|NCIT:C101334|GARD:0009433 https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia owl:Class MONDO:0002328 biolink:NamedThing intracranial hemangioma A hemangioma arising from the brain and meninges. tmpte7i6ely_mondo_relaxed.owl hemangioma of intracranial structure|hemangioma of intracranial structures|intracranial hemangioma|brain hemangioma|intracranial angioma|intracranial structure hemangioma|hemangioma of the intracranial structure|angioma of intracranial structure|hemangioma of brain|angioma of the intracranial structure NCIT:C3633|DOID:2517|UMLS:C0154050|ICD10:D18.02|SCTID:93468003|ICD9:228.02 owl:Class MONDO:0006118 biolink:NamedThing breast fibrosis Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. tmpte7i6ely_mondo_relaxed.owl fibrosclerosis of breast|breast fibrosclerosis|fibrosis of breast|fibrosclerosis of the breast|fibrosis of the breast|breast fibrosis ICD10:N60.3|NCIT:C3660|EFO:1000145|DOID:10353|SCTID:29070004|ICD9:610.3|UMLS:C0156318 owl:Class MONDO:0003724 biolink:NamedThing non-proliferative fibrocystic change of the breast Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. tmpte7i6ely_mondo_relaxed.owl non-proliferative fibrocystic change|non-proliferative fibrocystic change of breast|breast fibrocystic change, non-proliferative type DOID:5997|UMLS:C1332628|NCIT:C6943 owl:Class MONDO:0019547 biolink:NamedThing Wells syndrome Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia. tmpte7i6ely_mondo_relaxed.owl Wells' syndrome|bullous cellulitis with eosinophilia|eosinophilic cellulitis Orphanet:901|UMLS:C0343101|SCTID:238931006|ICD9:682.9|GARD:0000329|ICD10:L98.3|MESH:C536693 https://rarediseases.info.nih.gov/diseases/329/wells-syndrome owl:Class MONDO:0000226 biolink:NamedThing mineral metabolism disease tmpte7i6ely_mondo_relaxed.owl disorder of mineral metabolism|disease of mineral metabolism ICD9:275.9|ICD10:E83|ICD9:275.8|SCTID:45744005 owl:Class MONDO:0054730 biolink:NamedThing spermatogenic failure 26 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 26|SPGF26 UMLS:CN244573|OMIM:617961 owl:Class MONDO:0015103 biolink:NamedThing pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. tmpte7i6ely_mondo_relaxed.owl absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome|APV/ADA, Fallot type|PVA/ADA, Fallot type Orphanet:101206|ICD10:Q22.2|UMLS:CN197455 owl:Class MONDO:0020064 biolink:NamedThing pulmonary valve agenesis Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424 tmpte7i6ely_mondo_relaxed.owl absent pulmonary valve syndrome|PVA|pulmonary valves agenesis|congenital absence of the pulmonary valve SCTID:6996004|ICD10:Q22.2|Orphanet:982|GARD:0004597 owl:Class MONDO:0017335 biolink:NamedThing microtriplication 11q24.1 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. tmpte7i6ely_mondo_relaxed.owl tetrasomy 11q24.1 ICD10:Q99.8|Orphanet:289522 owl:Class MONDO:0016962 biolink:NamedThing partial duplication of the long arm of chromosome 11 tmpte7i6ely_mondo_relaxed.owl Duplication 11q|partial trisomy of the long arm of chromosome 11|partial trisomy of chromosome 11q|partial duplication of the long arm of chromosome type 11|trisomy 11q|chromosome 11q duplication|partial trisomy 11q|11q trisomy|partial duplication of chromosome 11q|11q duplication 2022-04-01 GARD:0001923|Orphanet:262923 Reason: duplicate. This will be merged with MONDO:0022173 chromosome 11q trisomy owl:Class MONDO:0044322 biolink:NamedThing intellectual developmental disorder with neuropsychiatric features Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}). tmpte7i6ely_mondo_relaxed.owl intellectual developmental disorder with neuropsychiatric features|IDDNPF OMIM:617532|UMLS:C4479636 owl:Class MONDO:0010027 biolink:NamedThing free sialic acid storage disease, infantile form tmpte7i6ely_mondo_relaxed.owl Nana storage disease|infantile free sialic acid storage disease|N-acetylneuraminic acid storage disease|infantile sialic acid storage disease|ISSD|infantile sialic acid storage disorder|sialuria, infantile form ICD10:E77.8|Orphanet:834|GARD:0000175|MedDRA:10067532|OMIM:269920|SCTID:34566007|Orphanet:309324 owl:Class MONDO:0003773 biolink:NamedThing intracerebral cystic meningioma A cystic meningioma that grows within the cerebral hemispheres. tmpte7i6ely_mondo_relaxed.owl NCIT:C5269|DOID:6113|UMLS:C1334236 owl:Class MONDO:0011434 biolink:NamedThing psoriasis 5, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS5|psoriasis 5, susceptibility to OMIM:604316|DOID:0111282 owl:Class CHEBI:88184 biolink:NamedThing metal allergen Any metal which causes the onset of an allergic reaction. tmpte7i6ely_mondo_relaxed.owl allergenic metals|metal allergens|allergenic metal owl:Class MONDO:0013936 biolink:NamedThing peroxisome biogenesis disorder 6A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 6A (Zellweger)|PBD6A|peroxisome biogenesis disorder, complementation group B|peroxisome biogenesis disorder, complementation group 7 OMIM:614870|NCIT:C155758|UMLS:C3553947|Orphanet:912|MESH:C566422|DOID:0080481 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100264 biolink:NamedThing peroxisome biogenesis disorder due to PEX10 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene. tmpte7i6ely_mondo_relaxed.owl PEX10 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX10 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013965 biolink:NamedThing lethal congenital contracture syndrome 4 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene. tmpte7i6ely_mondo_relaxed.owl MYBPC1 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 4|lethal congenital contracture syndrome caused by mutation in MYBPC1|lethal congenital contracture syndrome 4|LCCS4 UMLS:C3554046|DOID:0060654|Orphanet:137783|GARD:0012645|OMIM:614915 https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4 owl:Class MONDO:0000320 biolink:NamedThing glandular tularemia A tularemia that involves the lymph node. tmpte7i6ely_mondo_relaxed.owl lymph node tularemia SCTID:21857006|DOID:0050382|UMLS:C0275974 owl:Class ECTO:9001793 biolink:NamedThing exposure to anaesthetic An exposure to anaesthetic. tmpte7i6ely_mondo_relaxed.owl exposure to anaesthetic owl:Class MONDO:0010050 biolink:NamedThing spastic pseudosclerosis tmpte7i6ely_mondo_relaxed.owl disseminated encephalomyelopathy|spastic pseudosclerosis|Corticopallidodegeneration UMLS:C0599464|OMIM:270900|MESH:C563024 owl:Class MONDO:0030701 biolink:NamedThing autoimmune cardiomyopathy An autoimmune form of cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl DOID:0040095 owl:Class MONDO:0016950 biolink:NamedThing partial duplication of the short arm of chromosome 17 tmpte7i6ely_mondo_relaxed.owl partial duplication of the short arm of chromosome type 17|partial trisomy of chromosome 17p|partial duplication of chromosome 17p|partial trisomy of the short arm of chromosome 17 Orphanet:262803 owl:Class MONDO:0003958 biolink:NamedThing childhood central nervous system immature teratoma An immature teratoma that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood central nervous system immature teratoma|central nervous system immature teratoma of childhood|pediatric central nervous system immature teratoma UMLS:C1332954|DOID:6654|NCIT:C27405 owl:Class MONDO:0003750 biolink:NamedThing childhood central nervous system germ cell tumor A germ cell tumor of the central nervous system occurring in children. tmpte7i6ely_mondo_relaxed.owl pediatric germ cell tumor of the central nervous system|childhood central nervous system germ cell tumor|childhood CNS germ cell tumor|pediatric germ cell neoplasm of the CNS|childhood germ cell neoplasm of the CNS|central nervous system germ cell tumor|childhood germ cell tumor of central nervous system|childhood central nervous system germ cell neoplasm|childhood germ cell tumor of CNS|childhood germ cell neoplasm of CNS|central nervous system pediatric germ cell cancer|pediatric germ cell tumor of central nervous system|pediatric CNS germ cell neoplasm|childhood germ cell neoplasm of the central nervous system|pediatric CNS germ cell tumor|pediatric germ cell neoplasm of CNS|pediatric germ cell neoplasm of the central nervous system|childhood germ cell tumor of the central nervous system|pediatric germ cell tumor of the CNS|pediatric germ cell neoplasm of central nervous system|central nervous system childhood germ cell tumor|childhood CNS germ cell neoplasm|childhood germ cell tumor of the CNS|childhood germ cell neoplasm of central nervous system|pediatric germ cell tumor of CNS|pediatric central nervous system germ cell tumor|pediatric central nervous system germ cell neoplasm NCIT:C6205|UMLS:C0278754|DOID:6052 owl:Class MONDO:0004633 biolink:NamedThing Hodgkin's lymphoma, mixed cellularity A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) tmpte7i6ely_mondo_relaxed.owl Mixed cellularity Classic Hodgkin lymphoma|Hodgkin's disease mixed cellularity|Hodgkin's lymphoma mixed cellularity|mixed cellularity Hodgkin lymphoma|Hodgkin lymphoma, mixed cellularity|Hodgkin's disease, mixed cellularity of unspecified site|mixed cellularity Hodgkin's disease|mixed cellularity Hodgkin's lymphoma|MCCHL|mixed cellularity classical Hodgkin lymphoma|MCHL|Hodgkin's disease, mixed cellularity|classic Hodgkin lymphoma, mixed cellularity type NCIT:C3517|ICD10:C81.2|Orphanet:98844|ICD9:201.6|ONCOTREE:MCCHL|ICDO:9652/3|DOID:8654|MESH:D006689|SCTID:118609008 owl:Class MONDO:0006112 biolink:NamedThing bladder inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpte7i6ely_mondo_relaxed.owl inflammatory myofibroblastic tumor of the bladder|urinary bladder inflammatory myofibroblastic neoplasm|bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic tumor of bladder|inflammatory myofibroblastic neoplasm of bladder|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of the bladder|inflammatory myofibroblastic tumor of the urinary bladder|inflammatory myofibroblastic bladder tumor|inflammatory myofibroblastic neoplasm of urinary bladder|urinary bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of the urinary bladder|inflammatory myofibroblastic tumor of urinary bladder NCIT:C6177|UMLS:C1336891|ONCOTREE:IMTB|EFO:1000127 owl:Class MONDO:0015798 biolink:NamedThing inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. tmpte7i6ely_mondo_relaxed.owl inflammatory fibrosarcoma|inflammatory pseudotumor|IMT|inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic tumor UMLS:C0334121|DOID:0050905|GARD:0007146|ONCOTREE:IMT|MESH:D006104|ICDO:8825/1|NCIT:C6481|MedDRA:10067917|Orphanet:178342 https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor owl:Class MONDO:0002586 biolink:NamedThing thymus cancer A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites. tmpte7i6ely_mondo_relaxed.owl malignant Thymus tumor|malignant neoplasm of Thymus|thymic neoplasm|malignant tumor of the Thymus|thymic tumor|malignant tumor of Thymus|Thymus cancer|malignant thymus neoplasm|malignant neoplasm of thymus|malignant neoplasm of the Thymus|cancer of thymus|cancer of the Thymus|thymus cancer|cancer of Thymus|malignant Thymus neoplasm DOID:3277|UMLS:C0751552|ICD9:164.0|ICD10:C37|SCTID:363434003|NCIT:C4962 owl:Class MONDO:0003612 biolink:NamedThing uterine ligament cancer A primary or metastatic malignant neoplasm that affects the uterine ligament. tmpte7i6ely_mondo_relaxed.owl cancer of uterine ligament|malignant neoplasm of uterine ligament|malignant uterine ligament neoplasm|uterine ligament cancer DOID:5727|NCIT:C40133|UMLS:C1519870|NCIT:C126498|UMLS:C0864950 owl:Class MONDO:0010048 biolink:NamedThing spastic paraplegia with myoclonic epilepsy tmpte7i6ely_mondo_relaxed.owl spastic paraplegia with myoclonic epilepsy UMLS:C1849114|OMIM:270805|MESH:C564810 owl:Class MONDO:0012562 biolink:NamedThing holoprosencephaly 7 Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly type 7|holoprosencephaly caused by mutation in PTCH1|HPE7|PTCH1 holoprosencephaly|holoprosencephaly 7 OMIM:610828|MESH:C563660|DOID:0110876|UMLS:C1835820|Orphanet:2162 owl:Class MONDO:0020635 biolink:NamedThing anaplastic meningioma A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields). tmpte7i6ely_mondo_relaxed.owl anaplastic (malignant) meningioma|meningioma, malignant|malignant meningioma|anaplastic meningioma|meningioma, anaplastic, malignant NCIT:C4051|ONCOTREE:ANM|ICDO:9530/3 owl:Class MONDO:0008434 biolink:NamedThing Smith-Magenis syndrome Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. tmpte7i6ely_mondo_relaxed.owl chromosome 17P11.2 deletion syndrome|chromosome 17p11.2 deletion syndrome|17p11.2 microdeletion syndrome|Smith-Magenis syndrome chromosome region|SMITH-Magenis syndrome|Smith-Magenis syndrome|SMS|Smith-Magenis chromosome region DOID:0060768|NCIT:C75469|GARD:0008197|OMIM:182290|MESH:D058496|SCTID:401315004|ICD10:Q93.5|Orphanet:819|ICD9:758.33|UMLS:C0795864 owl:Class MONDO:0033116 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 26 tmpte7i6ely_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 26|spinocerebellar ataxia, autosomal recessive 26|SCAR26 OMIM:617633|DOID:0080260|UMLS:CN417133 owl:Class MONDO:0017456 biolink:NamedThing central polydactyly of fingers tmpte7i6ely_mondo_relaxed.owl central polydactyly of hand|mesoaxial polydactyly|mirror hand|central polydactyly|mesoaxial polydactyly of fingers ICD10:Q69.0|Orphanet:295004|SCTID:205130008|GARD:0012769 owl:Class MONDO:0008909 biolink:NamedThing congenital disorder of glycosylation, type i/IIx tmpte7i6ely_mondo_relaxed.owl CDG X|CDG-X|congenital disorder of glycosylation type I/IIX|congenital disorder of glycosylation, type i/IIx OMIM:212067|UMLS:C0349655|MESH:C562844|GARD:0009840 https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix owl:Class MONDO:0008172 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal dominant tmpte7i6ely_mondo_relaxed.owl Pho, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant|pachydermoperiostosis, autosomal dominant|PHOAD|PDP, autosomal dominant UMLS:C2674695|Orphanet:2796|OMIM:167100 owl:Class MONDO:0016620 biolink:NamedThing primary hypertrophic osteoarthropathy A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. tmpte7i6ely_mondo_relaxed.owl idiopathic hypertrophic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|pachydermoperiostosis syndrome|hypertrophic osteoarthropathy, primary|pachydermoperiostosis of nail|Touraine-Solente-Gole syndrome|hypertropic osteoarthropathy, primary|pachydermoperiostosis of nail [ambiguous]|Touraine Solente Gole syndrome|PHO|pachydermoperiostosis|PDP|PHOAR1 GARD:0007299|OMIM:259100|Orphanet:1525|ICD10:M89.4|Orphanet:2796|OMIM:167100|NCIT:C85023|OMIM:614441|OMIMPS:259100|Orphanet:248095|MESH:D010004|DOID:14283|UMLS:C0029411|MedDRA:10051686|UMLS:CN202658|SCTID:88220006 owl:Class MONDO:0043101 biolink:NamedThing hypothalamic dysfunction Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. tmpte7i6ely_mondo_relaxed.owl hypothalamic syndrome|hypothalamic dysfunction SCTID:111568001|GARD:0002932 owl:Class HP:0002086 biolink:NamedThing Abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. tmpte7i6ely_mondo_relaxed.owl Respiratory abnormality UMLS:C4018871 human_phenotype owl:Class GO:0045656 biolink:NamedThing negative regulation of monocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of monocyte differentiation|down-regulation of monocyte differentiation|inhibition of monocyte differentiation|downregulation of monocyte differentiation owl:Class GO:0045655 biolink:NamedThing regulation of monocyte differentiation Any process that modulates the frequency, rate or extent of monocyte differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007784 biolink:NamedThing selective pituitary resistance to thyroid hormone Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema. tmpte7i6ely_mondo_relaxed.owl thyroid hormone resistance, selective pituitary|hyperthyroidism, familial, due to inappropriate thyrotropin secretion|PRTH|pituitary resistance to thyroid hormone OMIM:145650|ICD10:E05.8|DOID:0111374|UMLS:C1840364|MESH:C564154|Orphanet:165994 owl:Class MONDO:0018312 biolink:NamedThing histoplasmosis A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. tmpte7i6ely_mondo_relaxed.owl Histoplasma infectious disease|Histoplasma disease or disorder|Histoplasma caused disease or disorder|darling disease ICD10:B39.1|ICD9:115|MedDRA:10020141|NCIT:C77201|ICD10:B39.0|DOID:1731|ICD9:115.99|ICD10:B39.9|ICD10:B39.3|ICD10:B39|EFO:0007310|MedDRA:10021808|ICD9:115.90|MESH:D006660|UMLS:C0019655|ICD10:B39.2|SCTID:12962009|ICD10:B39.4|Orphanet:390|ICD10:B39.5|ICD9:115.9 owl:Class CHEBI:36080 biolink:NamedThing protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. tmpte7i6ely_mondo_relaxed.owl proteins owl:Class CHEBI:33695 biolink:NamedThing information biomacromolecule tmpte7i6ely_mondo_relaxed.owl information biomacromolecules|information macromolecules|information macromolecule|genetically encoded biopolymers|genetically encoded biomacromolecules|information biopolymers owl:Class MONDO:0012396 biolink:NamedThing exercise-induced hyperinsulinism Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia, exercise-induced|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinism due to monocarboxylate transporter 1 deficiency|monocarboxylate transporter 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, 7|MCT1 hyperinsulinism|HHF7|hyperinsulinemic hypoglycemia familial 7|exercise induced hyperinsulinemic hypoglycemia|exercise-induced hyperinsulinemic hypoglycemia|hyperinsulinism due to SLC16A1 deficiency|EIHI|hyperinsulinemic hypoglycemia exercise-induced MESH:C538376|Orphanet:165991|ICD10:E16.1|OMIM:610021|NCIT:C131839|UMLS:C1864902|DOID:0070214|UMLS:C1864904|GARD:0009932|SCTID:715830008 owl:Class GO:0044147 biolink:NamedThing negative regulation of formation of structure involved in a symbiotic process Any process that stops, prevents, or reduces the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpte7i6ely_mondo_relaxed.owl negative regulation of development of symbiont involved in interaction with host|negative regulation of development of symbiont during interaction with host owl:Class UBERON:0014699 biolink:NamedThing extraembryonic venous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004159 biolink:NamedThing pancreatic non-invasive mucinous cystadenocarcinoma A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis. tmpte7i6ely_mondo_relaxed.owl UMLS:C1518874|DOID:7237|NCIT:C41245|ICDO:8470/2 owl:Class MONDO:0004156 biolink:NamedThing pancreatic mucinous cystadenocarcinoma A mucinous cystadenocarcinoma that involves the pancreas. tmpte7i6ely_mondo_relaxed.owl pancreatic mucinous cystadenocarcinoma|mucinous Cystadencarcinoma of pancreas|colloidal Cystadencarcinoma of the pancreas|colloid Cystadencarcinoma of the pancreas|colloidal Cystadencarcinoma of pancreas|pancreatic colloid Cystadencarcinoma|mucinous Cystadencarcinoma of the pancreas|pancreatic colloidal Cystadencarcinoma|pancreatic colloid cystadenocarcinoma|colloid Cystadencarcinoma of pancreas NCIT:C5713|UMLS:C1335308|DOID:7234 owl:Class ENVO:02000105 biolink:NamedThing clay dust Dust which is derived from clay material. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019918 biolink:NamedThing maternal uniparental disomy of chromosome 21 tmpte7i6ely_mondo_relaxed.owl UPD(21)mat|maternal uniparental disomy of chromosome type 21 Orphanet:96187|ICD10:Q99.8 owl:Class MONDO:0010894 biolink:NamedThing maturity-onset diabetes of the young type 3 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. tmpte7i6ely_mondo_relaxed.owl maturity-onset diabetes of the young type 3|maturity-onset diabetes of the young, type 3|diabetes mellitus MODY type 3|HNF1A maturity-onset diabetes of the young (disease)|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes|MODY3|MODY type 3|maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|type 3 maturity-onset diabetes of the young|MODY hepatocyte nuclear factor-1-alpha related|HNF1A-associated monogenic diabetes|MODY, type 3 NCIT:C129742|OMIM:600496|SCTID:609570008|Orphanet:552|GARD:0010658|UMLS:C1838100|MESH:C563933|DOID:0111102 https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3 owl:Class HGNC:6211 biolink:NamedThing ANOS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021468 biolink:NamedThing benign neoplasm of adrenal medulla A benign neoplasm that involves the adrenal medulla. tmpte7i6ely_mondo_relaxed.owl benign tumor of adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla neoplasm|benign adrenal medulla tumor|benign tumor of the adrenal medulla|benign neoplasm of the adrenal medulla UMLS:C0686512|NCIT:C4895|SCTID:91968002 owl:Class MONDO:0008297 biolink:NamedThing variegate porphyria Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. tmpte7i6ely_mondo_relaxed.owl porphyria, South African type|porphyria variegata|VP|variegate porphyria|Protocoproporphyria|variegate porphyria, homozygous variant|porphyria variegate|protoporphyrinogen oxidase deficiency|PPOX deficiency GARD:0007848|NCIT:C85219|DOID:4346|MESH:D046350|ICD10:E80.2|SCTID:58275005|UMLS:C0162532|Orphanet:79473|OMIM:176200 https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria owl:Class MONDO:0016749 biolink:NamedThing tumor of cranial and spinal nerves tmpte7i6ely_mondo_relaxed.owl rare tumor of cranial and spinal nerves GARD:0012697|UMLS:CN201996|Orphanet:252057 https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves owl:Class MONDO:0016173 biolink:NamedThing non-paraneoplastic sensory ganglionopathy tmpte7i6ely_mondo_relaxed.owl non-paraneoplastic sensory neuronopathy Orphanet:208989 owl:Class MONDO:0016172 biolink:NamedThing acquired sensory ganglionopathy An instance of sensory ganglionopathy that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired sensory ganglionopathy|acquired sensory neuronopathy Orphanet:208984 owl:Class GO:0003353 biolink:NamedThing positive regulation of cilium movement Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpte7i6ely_mondo_relaxed.owl positive regulation of flagellum movement|positive regulation of microtubule-based flagellum movement|positive regulation of flagellar movement owl:Class MONDO:0009624 biolink:NamedThing microcephaly and chorioretinopathy 1 An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. tmpte7i6ely_mondo_relaxed.owl Pseudotoxoplasmosis syndrome|TUBGCP6 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy, autosomal recessive, type 1|MCCRP1|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|microcephaly and chorioretinopathy 1|autosomal recessive chorioretinopathy-microcephaly syndrome|microcephaly and chorioretinopathy type 1|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|microcephaly and chorioretinopathy, autosomal recessive, 1 NCIT:C129306|OMIM:616335|Orphanet:2518|ICD10:Q87.8|OMIM:251270|DOID:0080105 owl:Class ECTO:0000724 biolink:NamedThing exposure to genotoxin An exposure to genotoxin. tmpte7i6ely_mondo_relaxed.owl exposure to genotoxin owl:Class UBERON:0000476 biolink:NamedThing acellular anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000504 biolink:NamedThing Abnormality of vision Abnormality of eyesight (visual perception). tmpte7i6ely_mondo_relaxed.owl Abnormality of sight|Abnormality of vision|Vision issue UMLS:C4025846 human_phenotype owl:Class GO:0061179 biolink:NamedThing negative regulation of insulin secretion involved in cellular response to glucose stimulus Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpte7i6ely_mondo_relaxed.owl negative regulation of insulin secretion in response to glucose|negative regulation of insulin secretion involved in cellular response to glucose owl:Class CHEBI:24261 biolink:NamedThing glucocorticoid Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpte7i6ely_mondo_relaxed.owl glucocorticoids owl:Class UBERON:0005185 biolink:NamedThing renal medulla collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050764 biolink:NamedThing regulation of phagocytosis Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18169 biolink:NamedThing FKBP10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001323 biolink:NamedThing infant gynecomastia Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. tmpte7i6ely_mondo_relaxed.owl breast engorgement in newborn|neonatal gynaecomastia SCTID:34831003|DOID:11603|ICD10:P83.4|NCIT:C117312|MESH:D006177|UMLS:C1449721|ICD9:778.7 owl:Class ECTO:0001152 biolink:NamedThing exposure to organochlorine compound An exposure to organochlorine compound. tmpte7i6ely_mondo_relaxed.owl exposure to organochlorine compound owl:Class ECTO:9000077 biolink:NamedThing exposure to chlorine An exposure to chlorine molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to chlorine molecular entity owl:Class GO:0023051 biolink:NamedThing regulation of signaling Any process that modulates the frequency, rate or extent of a signaling process. tmpte7i6ely_mondo_relaxed.owl regulation of signalling process|regulation of signaling process owl:Class HP:0008776 biolink:NamedThing Abnormal renal artery morphology Any structural abnormality of the renal artery. tmpte7i6ely_mondo_relaxed.owl Abnormality of the renal artery|Abnormal kidney artery UMLS:C4024624 peter 2008-04-04T06:13:00Z human_phenotype owl:Class MONDO:0017772 biolink:NamedThing oral erosive lichen tmpte7i6ely_mondo_relaxed.owl Orphanet:31142|ICD10:L43.8|UMLS:CN203692 owl:Class GO:0002263 biolink:NamedThing cell activation involved in immune response A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl cell activation during immune response owl:Class HGNC:1142 biolink:NamedThing BTNL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016641 biolink:NamedThing limb transversal defect-cardiac anomaly syndrome tmpte7i6ely_mondo_relaxed.owl Hecht-Scott syndrome ICD10:Q87.2|MESH:C535856|Orphanet:2492|UMLS:C2931047 owl:Class MONDO:0013455 biolink:NamedThing hypertrophic cardiomyopathy 16 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 16|CMH16|hypertrophic cardiomyopathy type 16|hypertrophic cardiomyopathy caused by mutation in MYOZ2|cardiomyopathy, familial hypertrophic, 16|cardiomyopathy familial hypertrophic 16|MYOZ2 hypertrophic cardiomyopathy UMLS:C3151204|DOID:0110322|OMIM:613838 owl:Class UBERON:0001073 biolink:NamedThing ileocecal junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014649 biolink:NamedThing intellectual disability, autosomal recessive 50 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene. tmpte7i6ely_mondo_relaxed.owl EDC3 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3|intellectual disability, autosomal recessive 50|intellectual disability, autosomal recessive type 50|MRT50|mental retardation, autosomal recessive 50|mental retardation, autosomal recessive type 50 OMIM:616460 owl:Class HGNC:7737 biolink:NamedThing NEFH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008468 biolink:NamedThing spondyloarthropathy, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl spondyloarthropathy, susceptibility to, 2|SPDA2 OMIM:183840|UMLS:C1866738|DOID:0080604 owl:Class MONDO:0011701 biolink:NamedThing inflammatory bowel disease 4 An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 4|IBD4|inflammatory bowel disease type 4 UMLS:C1847691|OMIM:606675|MESH:C564680|DOID:0110903 owl:Class MONDO:0033281 biolink:NamedThing polycystic kidney disease 5 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease 5|DZIP1L polycystic kidney disease|polycystic kidney disease caused by mutation in DZIP1L|PKD5 DOID:0080273|OMIM:617610 owl:Class SO:0001272 biolink:NamedThing tRNA_gene A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA. tmpte7i6ely_mondo_relaxed.owl tRNA gene owl:Class MONDO:0002800 biolink:NamedThing thrombophlebitis Inflammation of the veins associated with the presence of a thrombus. tmpte7i6ely_mondo_relaxed.owl phlebitis and thrombophlebitis of superficial vessels of lower extremities|superficial thrombophlebitis of leg|thrombophlebitis of superficial veins of lower extremity|thrombophlebitis of a superficial leg vein DOID:3875|ICD9:451.0|ICD10:I80.0|UMLS:C0040046|MESH:D013924|SCTID:40283005|ICD9:451.2|NCIT:C3410 owl:Class MONDO:0004114 biolink:NamedThing urinary bladder small cell neuroendocrine carcinoma A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ. tmpte7i6ely_mondo_relaxed.owl bladder small cell neuroendocrine cancer|small cell neuroendocrine carcinoma of the urinary bladder|small cell neuroendocrine carcinoma of urinary bladder|small cell carcinoma of urinary bladder|SCCB|small cell/neuroendocrine carcinoma of urinary bladder|bladder small cell neuroendocrine carcinoma|poorly differentiated neuroendocrine carcinoma of the bladder|small cell carcinoma of the bladder|small cell carcinoma of the urinary bladder|urinary bladder small cell carcinoma|small cell bladder carcinoma|small cell bladder cancer ICD10:C67.0|UMLS:C1332564|ICD10:C67.8|GARD:0011923|NCIT:C9461|EFO:1000129|ICD10:C67.6|ICD10:C67.4|ICD10:C67.7|UMLS:CN202866|ICD10:C67.1|ICD10:C67.5|ICD10:C67.9|DOID:7132|ICD10:C67.2|Orphanet:284400|ONCOTREE:SCBC|ICD10:C67.3 https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder owl:Class MONDO:0022424 biolink:NamedThing alpha-mannosidosis type 1 tmpte7i6ely_mondo_relaxed.owl MESH:C536584|UMLS:C2931251 owl:Class GO:0009185 biolink:NamedThing ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleoside diphosphate metabolism owl:Class HGNC:6741 biolink:NamedThing LZTFL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007914 biolink:NamedThing lumbar stenosis, familial tmpte7i6ely_mondo_relaxed.owl lumbar stenosis, familial UMLS:C1835320|OMIM:152550|MESH:C563613 owl:Class HGNC:2185 biolink:NamedThing COL10A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33563 biolink:NamedThing glycolipid Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. tmpte7i6ely_mondo_relaxed.owl glycolipids|Glycolipid owl:Class MONDO:0006944 biolink:NamedThing renal aminoaciduria A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. tmpte7i6ely_mondo_relaxed.owl MedDRA:10001939|EFO:1001149|SCTID:35912001|MESH:D000608 owl:Class MONDO:0006106 biolink:NamedThing benign smooth muscle neoplasm A benign mesenchymal neoplasm arising from smooth muscle tissue. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of smooth muscle|benign tumor of the smooth muscle|smooth muscle tissue benign neoplasm|benign smooth muscle tumor|benign tumor of smooth muscle|benign neoplasm of the smooth muscle|benign smooth muscle neoplasm NCIT:C6510|UMLS:C1332539|EFO:1000121 owl:Class MONDO:0030326 biolink:NamedThing mitochondrial dna depletion syndrome 16B (neuroophthalmic type) tmpte7i6ely_mondo_relaxed.owl mitochondrial dna depletion syndrome 16B (neuroophthalmic type)|MTDPS16B OMIM:619425 owl:Class HGNC:23452 biolink:NamedThing LIPN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001416 biolink:NamedThing skin of abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001620 biolink:NamedThing central retinal artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000849 biolink:NamedThing fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. tmpte7i6ely_mondo_relaxed.owl baker's disease DOID:0080040 owl:Class HGNC:28909 biolink:NamedThing CCDC22 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018783 biolink:NamedThing fibroblastic rheumatism tmpte7i6ely_mondo_relaxed.owl Orphanet:477650|UMLS:C1302753|SCTID:399964004|ICD9:729.0 owl:Class MONDO:0005900 biolink:NamedThing parotitis Inflammation of the parotid glands. tmpte7i6ely_mondo_relaxed.owl parotid gland inflammation|inflammation of parotid gland MESH:D010309|EFO:0007423|ICD10:K11.2|NCIT:C114281|SCTID:14756005|DOID:10301|UMLS:C0030583 owl:Class CL:0002242 biolink:NamedThing nucleate cell A cell containing at least one nucleus. tmpte7i6ely_mondo_relaxed.owl FMA:67513 tmeehan 2010-09-07T03:32:33Z cell owl:Class MONDO:0043364 biolink:NamedThing eosinophil peroxidase deficiency A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. tmpte7i6ely_mondo_relaxed.owl EPXD|eosinophil peroxidase deficiency, Partial|Presentey anomaly|eosinophil peroxidase deficiency, partial|eosinophil peroxidase deficiency|presentey anomaly|peroxidase and phospholipid deficiency in eosinophils UMLS:C1850000|SCTID:711160007|MESH:C564893|OMIM:261500|GARD:0012361 owl:Class GO:0090665 biolink:NamedThing glycoprotein complex A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071745 biolink:NamedThing IgA immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpte7i6ely_mondo_relaxed.owl IgA1 antibody|IgA2 antibody owl:Class GO:0019814 biolink:NamedThing immunoglobulin complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpte7i6ely_mondo_relaxed.owl antibody owl:Class MONDO:0010669 biolink:NamedThing syndactyly type 8 Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers. tmpte7i6ely_mondo_relaxed.owl metacarpals 4 and 5 fusion|non-syndromic syndactyly caused by mutation in FGF16|FGF16 non-syndromic syndactyly|MF4|metacarpal 4-5 fusion|fusion of metacarpals 4 and 5 OMIM:309630|MESH:C564100|GARD:0003559|UMLS:C1839728|SCTID:715442006|Orphanet:2498|ICD10:Q70.0 https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion owl:Class UBERON:0012483 biolink:NamedThing serosa of cloaca tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005204 biolink:NamedThing primary antiphospholipid syndrome An antiphospholipid syndrome that occurs as an isolated disorder. tmpte7i6ely_mondo_relaxed.owl SCTID:239892009|ICD9:795.79|UMLS:C0409980|EFO:0002689|MESH:D016736|NCIT:C61283 owl:Class MONDO:0010825 biolink:NamedThing atrioventricular defect-blepharophimosis-radial and anal defect syndrome Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. tmpte7i6ely_mondo_relaxed.owl Houlston-Ironton-Temple syndrome|atrioventricular septal defect with blepharophimosis and anal and radial defects MESH:C563994|Orphanet:1352|OMIM:600123|ICD10:Q87.8|UMLS:C1838606 owl:Class MONDO:0006197 biolink:NamedThing endometrial small cell carcinoma A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically. tmpte7i6ely_mondo_relaxed.owl small cell carcinoma of endometrium|endometrial small cell carcinoma|endometrium small cell carcinoma UMLS:C1516858|EFO:1000239|NCIT:C40155|DOID:7139 owl:Class MONDO:0003671 biolink:NamedThing septal myocardial infarction A myocardial infarction (disease) that involves the cardiac septum. tmpte7i6ely_mondo_relaxed.owl myocardial infarction (disease) of cardiac septum|cardiac septum myocardial infarction (disease) DOID:5846 owl:Class MONDO:0014268 biolink:NamedThing combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. tmpte7i6ely_mondo_relaxed.owl IMD16|combined immunodeficiency with impaired immunity to human herpes virus 8|immunodeficiency type 16|combined immunodeficiency with impaired immunity to HHV-8|OX40 deficiency|combined immunodeficiency with childhood-onset Kaposi sarcoma|immunodeficiency 16 Orphanet:431149|ICD10:D81.8|UMLS:C3810053|SCTID:766879006|OMIM:615593 owl:Class GO:0005750 biolink:NamedThing mitochondrial respiratory chain complex III A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. tmpte7i6ely_mondo_relaxed.owl mitochondrial coenzyme Q-cytochrome c oxidoreductase complex|mitochondrial electron transport complex III|mitochondrial coenzyme Q-cytochrome c reductase complex|mitochondrial complex III|mitochondrial cytochrome bc(1) complex|mitochondrial ubiquinol-cytochrome c oxidoreductase complex|mitochondrial ubiquinol-cytochrome-c reductase complex|mitochondrial cytochrome bc1 complex owl:Class HP:0008905 biolink:NamedThing Rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). tmpte7i6ely_mondo_relaxed.owl Short stature, rhizomelic|Symmetrical rhizomelic limb shortening|Rhizomelic short stature|Rhizomelic shortening|Rhizomelic dwarfism|Disproportionately short upper portion of limb|Rhizomelic short limbs|Rhizomelic limb shortening UMLS:C1866730 HP:0002968|HP:0008877|HP:0008852|HP:0003520 human_phenotype owl:Class HP:0009826 biolink:NamedThing Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities. tmpte7i6ely_mondo_relaxed.owl limb shortening|Short limbs|Hypoplasia involving bones of the extremities|Short limb|Limb undergrowth UMLS:C0239399 doelkens 2009-02-23T05:16:44Z HP:0005049|HP:0005057|HP:0003058 human_phenotype owl:Class MONDO:0007239 biolink:NamedThing epidermolytic ichthyosis A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. tmpte7i6ely_mondo_relaxed.owl epidermolytic ichthyosis|autosomal dominant epidermolytic ichthyosis|EI|bullous ichthyosis|EHK|epidermolytic hyperkeratosis|bullous ichthyosiform erythroderma|bullous congenital ichthyosiform erythroderma|bullous congenital ichthyosiform erythroderma of Brock|epidermolytic palmoplantar hyperkeratosis|BCIE|bullous ichthyosiform erythroderma congenita|ichthyosis hystrix Brocq type|congenital bullous ichthyosiform erythroderma|bullous erythroderma Ichthyosiformis congenita of Brocq|epidermolytic hyperkeratosis, late-onset GARD:0001039|MESH:D017488|ICD10:Q80.3|SCTID:254167000|OMIM:113800|OMIM:607602|Orphanet:312|DOID:4603|NCIT:C62569 Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? owl:Class MONDO:0017266 biolink:NamedThing keratinopathic ichthyosis tmpte7i6ely_mondo_relaxed.owl KPI UMLS:C4511307|Orphanet:281103|SCTID:724837004 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class HGNC:12665 biolink:NamedThing VCL tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001580 biolink:NamedThing hippocampus glial cell Glial cell of hippocampus. tmpte7i6ely_mondo_relaxed.owl hippocampus glial cells|hippocampal glial cell|hippocampus neuroglial cell CALOHA:TS-1257 owl:Class GO:0004155 biolink:NamedThing 6,7-dihydropteridine reductase activity Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine. tmpte7i6ely_mondo_relaxed.owl NADH-dihydropteridine reductase activity|NAD(P)H(2):6,7-dihydropteridine oxidoreductase activity|NADPH-specific dihydropteridine reductase activity|5,6,7,8-tetrahydropteridine:NAD(P)+ oxidoreductase activity|5,6,7,8-tetrahydropteridine:NAD(P)H+ oxidoreductase activity|dihydropteridine reductase activity|6,7-dihydropteridine:NAD(P)H oxidoreductase activity|dihydropteridine (reduced nicotinamide adenine dinucleotide) reductase activity|DHPR activity|dihydropteridine reductase (NADH) activity|NADPH-dihydropteridine reductase activity|dihydropteridine reduction|NAD(P)H2:6,7-dihydropteridine oxidoreductase activity owl:Class GO:0016646 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008202 biolink:NamedThing Parotidomegaly, hereditary bilateral tmpte7i6ely_mondo_relaxed.owl Parotidomegaly, hereditary bilateral OMIM:168800|MESH:C566821|UMLS:C1868590 owl:Class ENVO:03600001 biolink:NamedThing chemically contaminated sediment Sediment which contains some chemical contaminant. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00002007 biolink:NamedThing sediment Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012052 biolink:NamedThing ALG1-CDG A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). tmpte7i6ely_mondo_relaxed.owl ALG1-CDG|mannosyltransferase 1 deficiency|congenital disorder of glycosylation type 1k|CDG-Ik|ALG1-CDG (CDG-Ik)|congenital disorder of glycosylation type Ik|CDG syndrome type Ik|CDG 1K|CDG Ik|congenital disorder of glycosylation, type Ik|CDG1K|carbohydrate deficient glycoprotein syndrome type Ik Orphanet:79327|OMIM:608540|UMLS:C2931005|DOID:0080563|MESH:C535749|SCTID:720941007|ICD10:E77.8|GARD:0009838 owl:Class MONDO:0016353 biolink:NamedThing palmoplantar keratoderma-spastic paralysis syndrome tmpte7i6ely_mondo_relaxed.owl keratoderma palmoplantar spastic paralysis|Powell-Venencie-Gordon syndrome|palmoplantar hyperkeratosis-spastic paralysis syndrome MESH:C536153|MESH:C538358|OMIM:148360|GARD:0003095|Orphanet:2201 owl:Class MONDO:0007853 biolink:NamedThing palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome tmpte7i6ely_mondo_relaxed.owl axonal neuropathy with palmoplantar keratoderma|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy MESH:C536153|OMIM:148360|Orphanet:538574|Orphanet:2201 owl:Class HGNC:12335 biolink:NamedThing TRPC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024412 biolink:NamedThing Peptostreptococcus infectious disease A disease caused by infection with Peptostreptococcus. tmpte7i6ely_mondo_relaxed.owl Peptostreptococcus infection|Peptostreptococcus caused disease or disorder|Peptostreptococcus disease or disorder UMLS:C1096562|ICD9:041.84|SCTID:135341000119101 owl:Class HGNC:5009 biolink:NamedThing HMGA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044718 biolink:NamedThing alkaline ceramidase 3 deficiency tmpte7i6ely_mondo_relaxed.owl PLDECO|leukodystrophy, progressive, early childhood-onset|leukodystrophy due to alkaline ceramidase 3 deficiency|ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444|OMIM:617762|UMLS:CN603947 owl:Class HP:0410280 biolink:NamedThing Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. tmpte7i6ely_mondo_relaxed.owl Paediatric onset|Onset before adulthood 2018-11-01 15:27:45+00:00 http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class UBERON:8410051 biolink:NamedThing lymphatic vessel of colon tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2662056 biolink:NamedThing Retaria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009633 biolink:NamedThing root of sacral nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030853 biolink:NamedThing negative regulation of granulocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of granulocyte differentiation|downregulation of granulocyte differentiation|down-regulation of granulocyte differentiation|inhibition of granulocyte differentiation owl:Class UBERON:0035505 biolink:NamedThing right inguinal part of abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008337 biolink:NamedThing inguinal part of abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100396 biolink:NamedThing acute myeloid leukemia, t(7;12)(q36;p13) Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.) tmpte7i6ely_mondo_relaxed.owl AML, t(7;12)(q36;p13) NCIT:C122689|NCIT:C122690 owl:Class MONDO:0002073 biolink:NamedThing malignant pineal area germ cell neoplasm A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl malignant pineal parenchymal germ cell tumor|malignant germ cell neoplasm of the pineal gland|malignant germ cell tumor of the pineal gland|malignant germ cell tumor of pineal parenchyma|malignant pineal region germ cell neoplasm|malignant germ cell tumor of the pineal parenchyma|malignant germ cell tumor of pineal gland|pineal cell tumor|pineal germ cell neoplasm, malignant|pineal region germ cell tumor|malignant pineal area germ cell tumor|malignant pineal gland germ cell tumor|pineal cell tumour|malignant pineal gland germ cell neoplasm|malignant pineal region germ cell tumor|pineal germ cell tumor|malignant germ cell neoplasm of the pineal parenchyma|malignant pineal parenchymal germ cell neoplasm|malignant germ cell neoplasm of pineal gland|pineal region germinoma|malignant germ cell neoplasm of pineal parenchyma DOID:1660|ICD9:239.7|NCIT:C6767|SCTID:277508009|UMLS:C1334612|UMLS:C0349621|GARD:0012017 owl:Class HGNC:9280 biolink:NamedThing PPOX tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000543 biolink:NamedThing exposure to molecular messenger An exposure to molecular messenger. tmpte7i6ely_mondo_relaxed.owl exposure to molecular messenger owl:Class HGNC:19380 biolink:NamedThing RNU12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018477 biolink:NamedThing bilirubin encephalopathy tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemic encephalopathy|kernicterus spectrum disorder|kernicterus|bilirubin encephalopathy MESH:D007647|DOID:2382|ICD10:P57|NCIT:C84799|EFO:1001002|Orphanet:415286|MedDRA:10023376|GARD:0006830|ICD10:P57.9|SCTID:50143004 owl:Class MONDO:0012696 biolink:NamedThing otosclerosis 4 tmpte7i6ely_mondo_relaxed.owl OTSC4|otosclerosis 4 UMLS:C1969046|OMIM:611571|MESH:C566914 owl:Class UBERON:0001835 biolink:NamedThing lower lip tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0080154 biolink:NamedThing regulation of fertilization Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060089 biolink:NamedThing molecular transducer activity A compound molecular function in which an effector function is controlled by one or more regulatory components. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021389 biolink:NamedThing neoplasm of aortic body A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels. tmpte7i6ely_mondo_relaxed.owl aortic body paraganglioma|paraganglioma of aortic body|aortic body neoplasm|aorticopulmonary paraganglioma|aortic body neoplasm (disease)|neoplasm of aortic body|paraganglioma of the aortic body|aortic body tumor|tumor of aortic body|neoplasm of the aortic body|tumor of the aortic body SCTID:127029006|ICDO:8691/1|NCIT:C4218|ICD9:239.7|UMLS:C0334417 owl:Class MONDO:0019611 biolink:NamedThing TSH-secreting pituitary adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. tmpte7i6ely_mondo_relaxed.owl TSH producing adenoma of pituitary gland|thyroid stimulating hormone producing adenoma of pituitary gland|thyrotropinoma|thyrotroph adenoma|TSH producing adenoma of pituitary|TSH producing pituitary gland adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|pituitary thyrotrophic adenoma|thyroid stimulating hormone producing adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of the pituitary|TSH producing adenoma of the pituitary|thyroid stimulating hormone-secreting pituitary adenoma|thyrotrophic adenoma|TSH-producing pituitary gland adenoma|TSH secreting adenoma of the pituitary|TSH secreting adenoma of pituitary gland|TSH producing pituitary adenoma|TSH secreting pituitary gland adenoma|TSH secreting pituitary adenoma|thyroid stimulating hormone-producing adenoma|thyroid stimulating hormone producing pituitary adenoma|thyrotropin producing pituitary gland adenoma|thyroid stimulating hormone secreting pituitary gland adenoma|TSH producing adenoma of the pituitary gland|TSH-producing adenoma|thyrotrope adenoma|thyroid stimulating hormone secreting adenoma of the pituitary gland|TSH-oma|TSH secreting adenoma of the pituitary gland|thyroid stimulating hormone secreting pituitary adenoma|thyroid stimulating hormone producing pituitary gland adenoma|thyroid stimulating hormone secreting adenoma of pituitary gland|thyroid stimulating hormone secreting adenoma of pituitary|TSHoma|TSH secreting adenoma of pituitary|thyroid stimulating hormone producing adenoma of pituitary ICD10:D35.2|UMLS:C0346303|Orphanet:91347|NCIT:C8011 owl:Class GO:0006968 biolink:NamedThing cellular defense response A defense response that is mediated by cells. tmpte7i6ely_mondo_relaxed.owl cellular defence response|intracellular defence response|intracellular defense response owl:Class ENVO:01001617 biolink:NamedThing snow accumulation process A material accumulation process during which the mass of snow on a surface increases. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010676 biolink:NamedThing positive regulation of cellular carbohydrate metabolic process Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000479 biolink:NamedThing Purkinje myocyte of atrioventricular node A Purkinje myocyte that is part of the atrioventricular node. tmpte7i6ely_mondo_relaxed.owl FMA:83386 cell owl:Class MONDO:0018346 biolink:NamedThing ferro-cerebro-cutaneous syndrome tmpte7i6ely_mondo_relaxed.owl cerebro-cutaneous syndrome with iron overload UMLS:CN226080|ICD10:G23.0|Orphanet:397922 owl:Class MONDO:0001389 biolink:NamedThing congenital coronary artery anomaly tmpte7i6ely_mondo_relaxed.owl coronary artery abnormality [ambiguous]|coronary artery abnormality|coronary artery anomaly|congenital anomaly of coronary artery|coronary artery anomaly, congenital SCTID:28574005|ICD9:746.85|DOID:11843 owl:Class MONDO:0020386 biolink:NamedThing double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis tmpte7i6ely_mondo_relaxed.owl DORV, Fallot type|DORV with subaortic or doubly committed VSD with pulmonary stenosis|double outlet right ventricle, Fallot type ICD10:Q20.1|SCTID:253298003|Orphanet:99043|ICD10:Q21.3 owl:Class MONDO:0010921 biolink:NamedThing nasal dermoid cyst A dermoid cyst that involves the nose. tmpte7i6ely_mondo_relaxed.owl dermoid cysts, familial frontonasal|nasal dermoid sinus cyst OMIM:600679|ICD10:Q18.8|Orphanet:141103|UMLS:C1833473|MESH:C563455 owl:Class MONDO:0010092 biolink:NamedThing Filippi syndrome Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Filippi syndrome|type 1 syndactyly-microcephaly-intellectual disability syndrome|syndactyly, type I, with microcephaly and mental retardation|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly|Scott craniodigital syndrome with mental retardation|FILIPPI syndrome|syndactyly type I with microcephaly and mental retardation|Scott craniodigital syndrome with intellectual disability|syndactyly type I with microcephaly and intellectual disability|FLPIS|syndactyly, type I, with microcephaly and intellectual disability MESH:C538152|Orphanet:3255|ICD10:Q87.8|UMLS:C0795940|GARD:0000062|SCTID:720954000|OMIM:272440 owl:Class MONDO:0007956 biolink:NamedThing Pai syndrome Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. tmpte7i6ely_mondo_relaxed.owl cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa|Pai syndrome|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa|median cleft of upper lip with polyps of facial skin and nasal mucosa|median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome SCTID:722201004|OMIM:155145|ICD10:Q87.8|Orphanet:1993|MESH:C536135|GARD:0003439|UMLS:C1835087 https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa owl:Class GO:0019815 biolink:NamedThing B cell receptor complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. tmpte7i6ely_mondo_relaxed.owl B cell receptor accessory molecule complex|B-lymphocyte receptor complex|BCR complex|B-cell receptor complex|antibody|B lymphocyte receptor complex|immunoglobulin complex, membrane bound owl:Class GO:0098802 biolink:NamedThing plasma membrane signaling receptor complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007812 biolink:NamedThing ichthyosis, lamellar, autosomal dominant tmpte7i6ely_mondo_relaxed.owl ichthyosis lamellar, autosomal dominant|ichthyosis, lamellar, autosomal dominant|lamellar ichthyosis, autosomal dominant Orphanet:313|GARD:0009735|MESH:C537263|OMIM:146750|SCTID:254164007 https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant owl:Class UBERON:0013719 biolink:NamedThing dartos muscle of scrotum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002253 biolink:NamedThing spondylosis A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue. tmpte7i6ely_mondo_relaxed.owl thoracic or lumbar spondylosis with myelopathy|spondylogenic compression of lumbar spinal cord|spondylosis with myelopathy|spondylogenic compression of thoracic spinal cord|lumbar spondylosis with myelopathy|lumbosacral spondylosis without myelopathy ICD10:M47.9|ICD10:M47|ICD9:721.3|MESH:D055009|SCTID:48210000|DOID:2247|ICD9:721.9|UMLS:C0038019 owl:Class UBERON:0014720 biolink:NamedThing interlobar duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035050 biolink:NamedThing excretory duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012694 biolink:NamedThing Joubert syndrome 7 Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome type 7|Joubert syndrome 7|Joubert syndrome caused by mutation in RPGRIP1L|RPGRIP1L Joubert syndrome|JBTS7 Orphanet:220497|UMLS:C1969053|OMIM:611560|DOID:0111002|MESH:C566916 owl:Class HGNC:29253 biolink:NamedThing CC2D2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010717 biolink:NamedThing pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. tmpte7i6ely_mondo_relaxed.owl pyruvate dehydrogenase E1-alpha deficiency|PDH deficiency|ataxia, intermittent, with pyruvate dehydrogenase deficiency|ataxia with lactic acidosis 1|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate decarboxylase deficiency|pyruvate dehydrogenase complex E1 component subunit alpha deficiency|pyruvate dehydrogenase Complex deficiency|pyruvate dehydrogenase E1-ALPHA deficiency|lactic acidemia, thiamine-responsive|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|PDHAD Orphanet:765|ICD9:277.6|SCTID:124593001|GARD:0004620|Orphanet:79243|ICD10:E74.4|OMIM:312170 owl:Class MONDO:0002088 biolink:NamedThing partial retinal vein occlusion tmpte7i6ely_mondo_relaxed.owl partial occlusion of retinal vein|partial retinal vein occlusion DOID:1726|ICD10:H34.82|UMLS:C0271080|NCIT:C35341|SCTID:65593009 owl:Class MONDO:0006951 biolink:NamedThing retinal vein occlusion An occlusion of the retinal vein. tmpte7i6ely_mondo_relaxed.owl occlusion, of retinal vein|retinal vein occlusion EFO:1001157|NCIT:C34981|UMLS:C0035328|DOID:1727|MESH:D012170|MedDRA:10038907|SCTID:46085004 owl:Class CHEBI:26373 biolink:NamedThing pteridines tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:35788 biolink:NamedThing Rickettsia africae tmpte7i6ely_mondo_relaxed.owl PMID:8934912|PMID:7902843|GC_ID:11 ncbi_taxonomy owl:Class ENVO:00002006 biolink:NamedThing liquid water An environmental material primarily composed of dihydrogen oxide in its liquid form. tmpte7i6ely_mondo_relaxed.owl water owl:Class GO:0003352 biolink:NamedThing regulation of cilium movement Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpte7i6ely_mondo_relaxed.owl regulation of microtubule-based flagellum movement|regulation of flagellum movement|regulation of flagellar movement owl:Class MONDO:0010713 biolink:NamedThing properdin deficiency, X-linked A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. tmpte7i6ely_mondo_relaxed.owl CFPD|complement Factor properdin deficiency|PFD|properdin deficiency, X-linked|properdin deficiency, type 2|properdin deficiency, type 3|properdin deficiency, type 1|properdin P Factor deficiency GARD:0009913|MESH:C537241|DOID:0111768|SCTID:81166004|GARD:0004513|ICD9:279.8|OMIM:312060|ICD10:D84.1|Orphanet:2966 owl:Class MONDO:0000610 biolink:NamedThing marantic endocarditis Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia). tmpte7i6ely_mondo_relaxed.owl nonbacterial thrombotic endocarditis|non-bacterial thrombotic endocarditis MESH:D059905|DOID:0060068|SCTID:57181007 owl:Class PATO:0002299 biolink:NamedThing tubular A cylindrical shape that is hollow. tmpte7i6ely_mondo_relaxed.owl tube like|tubulate|tube-shaped owl:Class PATO:0001873 biolink:NamedThing cylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. tmpte7i6ely_mondo_relaxed.owl rod-like|rod-shaped|tubulate owl:Class MONDO:0006986 biolink:NamedThing substernal goiter An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. tmpte7i6ely_mondo_relaxed.owl retrosternal thyroid goiter EFO:1001198|UMLS:C0018024|MESH:D006045|DOID:13200|SCTID:66392007 owl:Class UBERON:0016513 biolink:NamedThing cavity of left atrium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002539 biolink:NamedThing aortic smooth muscle cell A smooth muscle cell of the aorta. tmpte7i6ely_mondo_relaxed.owl BTO:0004577 tmeehan 2011-02-28T01:42:12Z cell owl:Class HGNC:17073 biolink:NamedThing ARHGAP26 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013069 biolink:NamedThing autosomal recessive optic atrophy, OPA7 type tmpte7i6ely_mondo_relaxed.owl OPA7|optic atrophy 7 with or without auditory neuropathy DOID:0111437|ICD10:H47.2|Orphanet:227976|MESH:C567833|UMLS:C2751812|OMIM:612989 owl:Class GO:1904951 biolink:NamedThing positive regulation of establishment of protein localization Any process that activates or increases the frequency, rate or extent of establishment of protein localization. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein recruitment|up regulation of protein positioning|up-regulation of establishment of protein localisation|upregulation of establishment of protein localization|up-regulation of protein positioning|upregulation of protein positioning|up-regulation of establishment of protein localization|up regulation of establishment of protein localization|activation of protein positioning|up regulation of protein recruitment|up-regulation of protein recruitment|positive regulation of protein positioning|upregulation of protein recruitment|activation of establishment of protein localisation|up regulation of establishment of protein localisation|positive regulation of establishment of protein localisation|activation of establishment of protein localization|upregulation of establishment of protein localisation|activation of protein recruitment owl:Class UBERON:0010212 biolink:NamedThing laryngeal apparatus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011066 biolink:NamedThing Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). tmpte7i6ely_mondo_relaxed.owl CMT4B1|CMT 4B1|Charcot Marie Tooth disease type 4B1|MTMR2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4B|Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|Charcot-Marie-Tooth disease, type 4B1|Charcot-Marie-Tooth neuropathy type 4B1|Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|CMT 4B|Charcot-Marie-Tooth neuropathy, type 4B1 MESH:C535420|DOID:0110191|Orphanet:99955|SCTID:715803003|OMIM:601382|GARD:0001253|ICD10:G60.0|UMLS:C1832399 https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 owl:Class NCBITaxon:10245 biolink:NamedThing Vaccinia virus tmpte7i6ely_mondo_relaxed.owl vaccinia virus VV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10242 biolink:NamedThing Orthopoxvirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012321 biolink:NamedThing Alzheimer disease 10 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. tmpte7i6ely_mondo_relaxed.owl Alzheimer disease type 10|Alzheimer disease familial 10|Ad10|Alzheimer disease, familial, 10|Alzheimer's disease type 10|AD10|Alzheimer's disease 10|Alzheimer disease 10 MESH:C566465|DOID:0110043|ICD10:G30|OMIM:609636|UMLS:C1864828 owl:Class UBERON:0001090 biolink:NamedThing synovial fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014725 biolink:NamedThing spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome tmpte7i6ely_mondo_relaxed.owl spastic tetraplegia, thin corpus callosum, and progressive microcephaly|ASCT1 deficiency|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|SPATCCM|spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Orphanet:447997|ICD10:Q02|OMIM:616657|UMLS:C4225254 owl:Class GO:0010823 biolink:NamedThing negative regulation of mitochondrion organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpte7i6ely_mondo_relaxed.owl negative regulation of mitochondrion organisation owl:Class MONDO:0015831 biolink:NamedThing unilateral aplasia of the mullerian ducts tmpte7i6ely_mondo_relaxed.owl unicornuate uterus|unilateral aplasia of the Müllerian ducts ICD10:Q51.4|Orphanet:180071 owl:Class MONDO:0019128 biolink:NamedThing mullerian aplasia tmpte7i6ely_mondo_relaxed.owl Mullerian duct failure|Müllerian aplasia|aplasia of the Müllerian ducts|aplasia of the Mullerian ducts|Müllerian duct failure MESH:C537371|Orphanet:73217|SCTID:253828000 owl:Class MONDO:0003463 biolink:NamedThing ovarian endometrioid adenofibroma A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian endometrioid adenofibroma UMLS:C2212024|NCIT:C27287|ICDO:8380/0|DOID:5480|ICDO:8381/0 owl:Class MONDO:0014799 biolink:NamedThing cataract 45 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene. tmpte7i6ely_mondo_relaxed.owl CTRCT45|early-onset non-syndromic cataract caused by mutation in SIPA1L3|cataract 45|SIPA1L3 early-onset non-syndromic cataract|cataract type 45 DOID:0110262|UMLS:C4225182|OMIM:616851|ICD10:Q12.0 owl:Class HGNC:11724 biolink:NamedThing TEK tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901191 biolink:NamedThing negative regulation of formation of translation initiation ternary complex Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. tmpte7i6ely_mondo_relaxed.owl downregulation of formation of translation initiation ternary complex|down-regulation of translation initiation ternary complex assembly|downregulation of translation initiation ternary complex assembly|negative regulation of translation initiation ternary complex assembly|down-regulation of formation of translation initiation ternary complex|down regulation of translation initiation ternary complex assembly|inhibition of formation of translation initiation ternary complex|inhibition of translation initiation ternary complex assembly|down regulation of formation of translation initiation ternary complex owl:Class MONDO:0008984 biolink:NamedThing ciliary discoordination due to random ciliary orientation tmpte7i6ely_mondo_relaxed.owl ciliary discoordination due to random ciliary orientation|ciliary discoordination, due to random ciliary orientation|Rutland ciliary disorientation syndrome OMIM:215518|SCTID:233667003|ICD9:759.89|GARD:0001360|UMLS:C0340038|MESH:C562757 https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation owl:Class MONDO:0019780 biolink:NamedThing anotia Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development. tmpte7i6ely_mondo_relaxed.owl SCTID:57436000|Orphanet:93976|ICD10:Q16.0|ICD10:Q16.1|MedDRA:10002654|OMIM:600674|ICD9:744.01 owl:Class MONDO:0032597 biolink:NamedThing myasthenic syndrome, congenital, 24, presynaptic tmpte7i6ely_mondo_relaxed.owl MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC|CMS24 OMIM:618198 owl:Class UBERON:0009201 biolink:NamedThing nephric duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001952 biolink:NamedThing parietal lobe cancer A malignant neoplasm involving the parietal lobe tmpte7i6ely_mondo_relaxed.owl malignant parietal lobe neoplasm|parietal lobe neoplasm|cancer of parietal lobe|parietal lobe cancer|malignant neoplasm of parietal lobe NCIT:C5573|SCTID:126956001|UMLS:C1263888|SCTID:363469001|ICD9:191.3|ICD10:C71.3|DOID:14384|UMLS:C0153637 owl:Class MONDO:0100052 biolink:NamedThing acetazolamide-responsive hereditary episodic ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. tmpte7i6ely_mondo_relaxed.owl 2018-07-25 17:53:07+00:00 owl:Class MONDO:0001094 biolink:NamedThing residual stage of open angle glaucoma tmpte7i6ely_mondo_relaxed.owl residual stage of open angle glaucoma|open-angle glaucoma residual stage ICD10:H40.15|DOID:1066|ICD9:365.15|UMLS:C0154944|SCTID:66990007 owl:Class MONDO:0022316 biolink:NamedThing hair defect with photosensitivity and intellectual disability syndrome Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. tmpte7i6ely_mondo_relaxed.owl hair defect with photosensitivity and intellectual disability syndrome SCTID:721007005 owl:Class FOODON:03430150 biolink:NamedThing whole, natural shape tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03430131 biolink:NamedThing whole Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell). tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:393 biolink:NamedThing AKT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006884 biolink:NamedThing panophthalmitis Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. tmpte7i6ely_mondo_relaxed.owl SCTID:33382000|MESH:D010202|UMLS:C0030332|EFO:1001081|ICD9:360.02|MedDRA:10033683|DOID:13732 owl:Class MONDO:0004863 biolink:NamedThing purulent endophthalmitis tmpte7i6ely_mondo_relaxed.owl SCTID:41720003|ICD10:H44.0|UMLS:C0259800|ICD10:H44.00|DOID:9724|ICD9:360.0|ICD9:360.00 owl:Class GO:2000194 biolink:NamedThing regulation of female gonad development Any process that modulates the frequency, rate or extent of female gonad development. tmpte7i6ely_mondo_relaxed.owl regulation of ovary development|regulation of ovarian development owl:Class UBERON:0004925 biolink:NamedThing submucosa of laryngopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041526 biolink:NamedThing pregnancy disorder with abortive outcome tmpte7i6ely_mondo_relaxed.owl pregnancy with abortive outcome ICD10:O00.O08|SCTID:363681007 Editor note: consider obsoleting owl:Class MONDO:0020518 biolink:NamedThing Hashimoto-Pritzker syndrome Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules). tmpte7i6ely_mondo_relaxed.owl Hashimoto-Pritzker histiocytosis|congenital Langerhans cell histiocytosis|Hashimoto-Pritzker disease ICD10:C96.5|Orphanet:99872|MESH:C535843|SCTID:404160007|ICD9:277.89|UMLS:C1275336|GARD:0002604 https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome owl:Class HGNC:15516 biolink:NamedThing XYLT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020669 biolink:NamedThing paranasal sinus cancer A primary or metastatic malignant neoplasm involving the paranasal sinuses. tmpte7i6ely_mondo_relaxed.owl malignant paranasal sinus tumor|malignant neoplasm of the accessory sinus|malignant paranasal sinus neoplasm|malignant accessory sinus neoplasm|malignant tumor of paranasal sinus|malignant neoplasm of paranasal sinus|malignant accessory sinus tumor|malignant neoplasm of accessory sinus|malignant tumor of the paranasal sinus|malignant neoplasm of the paranasal sinus|malignant tumor of accessory sinus|malignant tumor of the accessory sinus NCIT:C7487 owl:Class UBERON:0007188 biolink:NamedThing mesothelium of serous pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2035 biolink:NamedThing CLDN14 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009713 biolink:NamedThing endocardium of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001081 biolink:NamedThing endocardium of ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001666 biolink:NamedThing response to hypoxia Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. tmpte7i6ely_mondo_relaxed.owl response to lowered oxygen tension|response to sustained hypoxia|response to intermittent hypoxia|response to hypoxic stress owl:Class HGNC:3662 biolink:NamedThing FGB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010215 biolink:NamedThing xeroderma pigmentosum group F Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum, complementation group type F|ERCC4 xeroderma pigmentosum|xeroderma pigmentosum VI|XP6|xeroderma pigmentosum, type 6|XP-F|xeroderma pigmentosum, complementation group F|xeroderma pigmentosum group F|XP group F|xeroderma pigmentosum, type F/Cockayne syndrome|xeroderma pigmentosum group type F|xeroderma pigmentosum caused by mutation in ERCC4|XPF|xeroderma pigmentosum 6|XP, group F Orphanet:220295|MESH:C562592|Orphanet:910|Orphanet:276264|SCTID:42530008|OMIM:278760|DOID:0110848|NCIT:C3968|GARD:0005628|ICD10:Q82.1 owl:Class MONDO:0017357 biolink:NamedThing transient hyperammonemia of the newborn tmpte7i6ely_mondo_relaxed.owl ICD10:P74.8|Orphanet:289877|UMLS:CN203020 owl:Class MONDO:0007075 biolink:NamedThing alacrima, congenital, autosomal dominant tmpte7i6ely_mondo_relaxed.owl alacrimia congenita|alacrima, congenital|alacrimia congenita, autosomal dominant MESH:C566307|Orphanet:91416|OMIM:103420 owl:Class MONDO:0019627 biolink:NamedThing isolated congenital alacrima Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. tmpte7i6ely_mondo_relaxed.owl nonsyndromic congenital alacrima Orphanet:91416|ICD10:Q10.6|OMIM:103420|UMLS:C4273963|SCTID:717262004|OMIM:601549 owl:Class MONDO:0011680 biolink:NamedThing autosomal recessive congenital ichthyosis 3 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene. tmpte7i6ely_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 3|ichthyosis, congenital, autosomal recessive type 3|collodion baby, self-healing|ichthyosis, lamellar, 5, formerly|autosomal recessive congenital ichthyosis type 3|lamellar ichthyosis 5|ARCI3|ichthyosis, lamellar, 5 Orphanet:281122|MESH:C564699|ICD10:Q80.2|DOID:0060711|OMIM:606545|Orphanet:313|Orphanet:79394 owl:Class MONDO:0010835 biolink:NamedThing pterygium colli-intellectual disability-digital anomalies syndrome Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. tmpte7i6ely_mondo_relaxed.owl pterygium colli and intellectual disability with facial and digital anomalies|pterygium colli and mental retardation with facial and digital anomalies|pterygium colli intellectual disability digital anomalies|pterygium colli mental retardation digital anomalies|khalifa-Graham syndrome MESH:C535831|SCTID:719256004|ICD10:Q87.0|OMIM:600159|UMLS:C1838562|GARD:0004568|Orphanet:2988 owl:Class MONDO:0017228 biolink:NamedThing autoimmune pancreatitis type 2 Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. tmpte7i6ely_mondo_relaxed.owl duct-centric pancreatitis|AIP type 2 Orphanet:280315|UMLS:CN202713|ICD10:K86.1 owl:Class MONDO:0012460 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 67 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. tmpte7i6ely_mondo_relaxed.owl DFNB67|LHFPL5 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 67|autosomal recessive nonsyndromic deafness type 67|deafness, autosomal recessive 67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|autosomal recessive deafness 67|deafness, autosomal recessive type 67 MESH:C565207|OMIM:610265|ICD10:H90.3|UMLS:C1853223|DOID:0110518 owl:Class MONDO:0000984 biolink:NamedThing thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. tmpte7i6ely_mondo_relaxed.owl thalassemia Hb-S disease without crisis|sickle-cell thalassemia without crisis|sickle-cell thalassemia with crisis|thalassemia Hb-S disease with crisis DOID:10241|ICD9:282.40|UMLS:C0039730|ICD10:D56|ICD9:282.49|ICD9:282.4|GARD:0007756|SCTID:40108008|EFO:1001996|ICD10:D56.9|NCIT:C35069|MESH:D013789 owl:Class MONDO:0002876 biolink:NamedThing cervical adenosarcoma A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements. tmpte7i6ely_mondo_relaxed.owl cervical adenosarcoma|adenosarcoma of uterine cervix|cervical Mullerian adenosarcoma|adenosarcoma of the cervix uteri|cervical Muellerian adenosarcoma|cervical Müllerian adenosarcoma|uterine cervix adenosarcoma ICD10:C53.0|ICD10:C53.1|SCTID:764847000|DOID:4111|ICD10:C53.8|NCIT:C40229|UMLS:CN201069|Orphanet:213792|UMLS:C1516426 owl:Class MONDO:0005636 biolink:NamedThing adenosarcoma A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. tmpte7i6ely_mondo_relaxed.owl Mullerian adenosarcoma|adenosarcoma|Müllerian adenosarcoma|adenosarcoma (morphologic abnormality)|mullerian adenosarcoma MESH:D018195|NCIT:C9474|ICDO:8933/3|DOID:1974|UMLS:C0001442|EFO:0007134 owl:Class MONDO:0016559 biolink:NamedThing glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. tmpte7i6ely_mondo_relaxed.owl megalocornea-spherophakia-secondary glaucoma syndrome UMLS:CN201642|OMIM:251750|GARD:0010942|ICD10:Q15.8|Orphanet:238763 owl:Class MONDO:0009633 biolink:NamedThing microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma tmpte7i6ely_mondo_relaxed.owl MSPKA|microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UMLS:C3538951|Orphanet:238763|OMIM:251750 owl:Class MONDO:0022932 biolink:NamedThing Davenport-Donlan syndrome An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis|Davenport Donlan syndrome MESH:C535988|Orphanet:3215|UMLS:C2931076|GARD:0001672 Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579 https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome owl:Class MONDO:0011435 biolink:NamedThing microcephaly 2, primary, autosomal recessive, with or without cortical malformations tmpte7i6ely_mondo_relaxed.owl MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations MESH:C565794|OMIM:604317|DOID:0070293|UMLS:C1858535 owl:Class MONDO:0019562 biolink:NamedThing localized scleroderma Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips. tmpte7i6ely_mondo_relaxed.owl Scleroderma, localized|localized scleroderma (disorder) [ambiguous]|Scleroderma, circumscribed or localized|localised morphoea|circumscribed scleroderma|localized fibrosing scleroderma|morphea|localized morphea|localized scleroderma Orphanet:90289|DOID:8472|ICD10:L94.0|UMLS:C0036420|NCIT:C72069|MESH:D012594|GARD:0007058|ICD9:701.0|MedDRA:10039712|SCTID:201048007 owl:Class UBERON:0003866 biolink:NamedThing middle phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001449 biolink:NamedThing phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034945 biolink:NamedThing excreted gas tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025013 biolink:NamedThing non-human primate disease Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini. tmpte7i6ely_mondo_relaxed.owl Primate disease|diseases, Primate|disease, Primate MESH:D018419|UMLS:C0242634 owl:Class CL:0002365 biolink:NamedThing medullary thymic epithelial cell An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output. tmpte7i6ely_mondo_relaxed.owl mTEC BTO:0004563 tmeehan 2010-09-23T03:17:14Z cell owl:Class MONDO:0007877 biolink:NamedThing laryngeal adductor paralysis tmpte7i6ely_mondo_relaxed.owl LAP|laryngeal adductor paralysis|vocal cord dysfunction, adductor type OMIM:150270|MESH:C562861 owl:Class HGNC:12642 biolink:NamedThing VAMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017439 biolink:NamedThing tetra-amelia tmpte7i6ely_mondo_relaxed.owl total amelia|tetra-amelia syndrome|Tetraamelia, autosomal recessive|tetra-amelia, autosomal recessive Orphanet:294971|ICD10:Q73.0|GARD:0005148|MESH:C536498|HP:0003057|SCTID:702313004 owl:Class UBERON:0010276 biolink:NamedThing space in vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021452 biolink:NamedThing benign neoplasm of cornea A benign neoplasm that involves the cornea. tmpte7i6ely_mondo_relaxed.owl benign corneal neoplasm|benign cornea tumor|benign corneal tumor|benign cornea neoplasm|cornea benign neoplasm|benign tumor of the cornea|benign tumor of cornea|benign neoplasm of the cornea NCIT:C3623|ICD9:224.4|SCTID:92070006|UMLS:C0154026 owl:Class MONDO:0012612 biolink:NamedThing intellectual disability, autosomal recessive 12 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 12|intellectual disability, autosomal recessive type 12|intellectual disability, autosomal recessive 12|MRT12|mental retardation, autosomal recessive type 12 MESH:C567019|OMIM:611090|UMLS:C1970200 owl:Class MONDO:0023868 biolink:NamedThing melanoma associated retinopathy Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. tmpte7i6ely_mondo_relaxed.owl Melanoma associated retinopathy|Melanoma-associated retinopathy|Melanoma-Associated Retinopathy|Retinopathy, Melanoma-Associated|Melanoma Associated Retinopathy|Melanoma-Associated Retinopathies|Retinopathies, Melanoma-Associated UMLS:C0730308|SCTID:312941005|GARD:0012041 owl:Class MONDO:0006386 biolink:NamedThing primary peritoneal serous adenocarcinoma A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity. tmpte7i6ely_mondo_relaxed.owl primary peritoneal serous adenocarcinoma UMLS:C1514429|EFO:1000494|NCIT:C40023 owl:Class MONDO:0015686 biolink:NamedThing primary peritoneal carcinoma Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma. tmpte7i6ely_mondo_relaxed.owl primary peritoneal carcinoma (disease)|Extra-ovarian primary peritoneal carcinoma|serous surface papillary carcinoma|primary peritoneal carcinoma|PPC|primary peritoneal serous carcinoma|primary peritoneal cancer|EOPPC primary peritoneal carcinoma (disease) HP:0030406|Orphanet:168829|ICD10:C48.2|UMLS:CN200184|NCIT:C40022 owl:Class HGNC:4135 biolink:NamedThing GALT tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030155 biolink:NamedThing regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. tmpte7i6ely_mondo_relaxed.owl cell adhesion receptor regulator activity owl:Class HGNC:4551 biolink:NamedThing TECR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041052 biolink:NamedThing postherpetic neuralgia tmpte7i6ely_mondo_relaxed.owl post-zoster neuralgia|PHN - post-herpetic neuralgia|postherpetic neuralgia Orphanet:466673|UMLS:C0032768|SCTID:2177002 owl:Class MONDO:0021677 biolink:NamedThing post-infectious neuralgia tmpte7i6ely_mondo_relaxed.owl postinfectious neuralgia ICD9:729.2|UMLS:C0032772|SCTID:17111003 owl:Class MONDO:0006597 biolink:NamedThing photosensitivity disease Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. tmpte7i6ely_mondo_relaxed.owl disorders, photosensitivity|disorder, photosensitivity|photodermatitides|photodermatitis|photosensitivity disorder|photodermatosis|photosensitization SCTID:22649008|EFO:1000752|DOID:3159|MESH:D010787|UMLS:C0031762 owl:Class MONDO:0043969 biolink:NamedThing nocturnal paroxysmal dystonia A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. tmpte7i6ely_mondo_relaxed.owl nocturnal paroxysmal dystonias|dystonias, nocturnal paroxysmal|dystonia, nocturnal, paroxysmal|hypnogenic paroxysmal dystonias|sleep-related dystonia|dystonia, nocturnal paroxysmal|dystonias, sleep-related|paroxysmal dystonias, nocturnal|dystonias, hypnogenic paroxysmal|dystonia, sleep-related|sleep related dystonia|dystonia, hypnogenic paroxysmal|sleep-related dystonias|paroxysmal dystonia, hypnogenic|paroxysmal dystonias, hypnogenic|hypnogenic paroxysmal dystonia|paroxysmal dystonia, nocturnal MESH:D020183|UMLS:C0393777|EFO:1001772|SCTID:230500006 owl:Class MONDO:0100081 biolink:NamedThing sleep disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. tmpte7i6ely_mondo_relaxed.owl sleep disturbances|parasomnia|disturbances, sleep|sleep disturbance NCIT:C3376 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0001458 biolink:NamedThing skin of lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012104 biolink:NamedThing acquired partial lipodystrophy A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. tmpte7i6ely_mondo_relaxed.owl lipodystrophy partial acquired|Barraquer-Simons syndrome|APLD|APLD, susceptibility to|lipodystrophy, cephalothoracic type|acquired partial lipodystrophy|lipodystrophy, partial, progressive|progressive cephalothoracic lipodystrophy|partial acquired lipodystrophy|lipodystrophy cephalothoracic type|lipodystophy partial progressive|susceptibility to partial acquired lipodystrophy|lipodystrophy, partial, acquired, susceptibility to UMLS:C0220989|MESH:C562448|Orphanet:79087|GARD:0010509|NCIT:C129723|ICD10:E88.1|SCTID:75659004 owl:Class MONDO:0027767 biolink:NamedThing partial lipodystrophy Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. tmpte7i6ely_mondo_relaxed.owl NCIT:C131296|DOID:0080299|UMLS:C4316789 owl:Class HGNC:18150 biolink:NamedThing MYO18B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004049 biolink:NamedThing combat disorder Neurotic reactions to unusual, severe, or overwhelming military stress. tmpte7i6ely_mondo_relaxed.owl disorder, combat|stress disorders, combat|combat disorder|combat stress disorders|combat neuroses|neuroses, combat|war neurosis|neurosis, combat|shell shock|neuroses, war|disorder, combat stress|neurosis, war|shell Shocks|stress disorder, combat|war neuroses|shock, shell|Shocks, shell|disorders, combat|combat neurosis|disorders, combat stress|combat stress disorder DOID:6950|MESH:D003130|SCTID:279611005|NCIT:C34498 owl:Class MONDO:0003763 biolink:NamedThing acute stress disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. tmpte7i6ely_mondo_relaxed.owl acute stress reaction|traumatic stress disorder ICD9:308.3|ICD9:308.9|DOID:6088|ICD10:F43.0|SCTID:67195008|MESH:D000068099|Wikipedia:Acute_stress_reaction|EFO:0005223|NCIT:C92621 owl:Class UBERON:4300226 biolink:NamedThing forelimb bud mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003413 biolink:NamedThing pectoral appendage bud mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011026 biolink:NamedThing autosomal recessive congenital ichthyosis 4A Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene. tmpte7i6ely_mondo_relaxed.owl ichthyosis, lamellar, 2, formerly|ichthyosis lamellar 2|ichthyosis, lamellar, 2|ichthyosis congenita 2B|lamellar ichthyosis 2|ARCI4A|ichthyosis congenita IIB|lamellar ichthyosis, type 2|autosomal recessive congenital ichthyosis type 4A|ichthyosis, congenital, autosomal recessive type 4A|ichthyosis, congenital, autosomal recessive 4A|LI2|ICR2B MESH:C537264|Orphanet:313|DOID:0060712|OMIM:601277|GARD:0009733|ICD10:Q80.2 owl:Class MONDO:0012820 biolink:NamedThing colorectal cancer, susceptibility to, 3 Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to colorectal cancer 3|colorectal cancer caused by mutation in SMAD7|colorectal cancer, susceptibility to, 3|colorectal cancer, susceptibility to, type 3|CRCS3|SMAD7 colorectal cancer|colorectal cancer, susceptibility to, on chromosome 18 OMIM:612229 owl:Class MONDO:0011968 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. tmpte7i6ely_mondo_relaxed.owl primary adhalinopathy|Duchenne-like autosomal recessive muscular dystrophy type 2|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|LGMD2D|muscular dystrophy limb-girdle with alpha-sarcoglycan|Adhalinopathy, primary|limb-girdle muscular dystrophy, type 2D|muscular dystrophy, limb-girdle, type 2D|DMDA2|Alpha-sarcoglycanopathy|limb-girdle muscular dystrophy type 2D|SGCA autosomal recessive limb-girdle muscular dystrophy|Duchenne-like autosomal recessive muscular dystrophy, type 2 DOID:0110278|ICD10:G71.0|SCTID:715340002|Orphanet:62|NCIT:C142081|OMIM:608099|GARD:0000438 owl:Class MONDO:0011307 biolink:NamedThing schizophrenia 2 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 11Q-related|schizophrenia 2|SCZD2 DOID:0070078|UMLS:C1864010|OMIM:603342 owl:Class HP:0011276 biolink:NamedThing Vascular skin abnormality tmpte7i6ely_mondo_relaxed.owl Skin vascular malformation|Vascular abnormalities restricted to skin MSH:D017445|UMLS:C1842892|SNOMEDCT_US:11263005|UMLS:C0162819 peter 2011-12-29T08:52:53Z human_phenotype owl:Class MONDO:0010739 biolink:NamedThing Taqi polymorphism tmpte7i6ely_mondo_relaxed.owl Taqi polymorphism|TaqI polymorphism|TAQ1 OMIM:313480 owl:Class HGNC:9179 biolink:NamedThing POLG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018481 biolink:NamedThing undifferentiated carcinoma of esophagus An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation. tmpte7i6ely_mondo_relaxed.owl undifferentiated esophageal cancer|esophageal undifferentiated carcinoma|esophagus undifferentiated carcinoma|undifferentiated esophageal carcinoma ICD10:C15.3|ICD10:C15.1|UMLS:C2188058|ICD10:C15.5|ICD10:C15.4|NCIT:C27422|ICD10:C15.0|Orphanet:418951|UMLS:CN237469|ICD10:C15.2|ICD10:C15.8 owl:Class MONDO:0003139 biolink:NamedThing mesangial proliferative glomerulonephritis Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. tmpte7i6ely_mondo_relaxed.owl glomerulonephritis - mesangial proliferative|mesangial proliferative GN|Mesangioproliferative glomerulonephritis NCIT:C35445|UMLS:C0221238|SCTID:35546006|GARD:0009580|DOID:4783 https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis owl:Class MONDO:0004601 biolink:NamedThing ulcer of lower limbs Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. tmpte7i6ely_mondo_relaxed.owl Ulcer of heel and midfoot|Ulcer of calf|Ulcer of thigh|Ulcer of ankle SCTID:419193008|ICD9:707.13|DOID:8529|EFO:0007068 owl:Class MONDO:0002035 biolink:NamedThing colon lymphoma An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas. tmpte7i6ely_mondo_relaxed.owl colon lymphoma|lymphoma of colon|colonic lymphoma|primary colon lymphoma|lymphoma of the colon SCTID:133751000119102|UMLS:C0519037|DOID:1523|ICD9:202.80|NCIT:C4793 owl:Class HP:0012718 biolink:NamedThing Morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl Morphological anomaly of the digestive system|Morphological abnormality of the GI tract|Abnormal shape of the digestive system UMLS:C4021073 peter 2014-03-23T01:09:02Z human_phenotype owl:Class MONDO:0006857 biolink:NamedThing middle cerebral artery infarction Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. tmpte7i6ely_mondo_relaxed.owl UMLS:C0740392|EFO:1001045|DOID:3525|MESH:D020244 owl:Class MONDO:0016907 biolink:NamedThing partial deletion of the long arm of chromosome 8 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial monosomy of the long arm of chromosome 8|partial monosomy of chromosome 8q|8q deletion|partial deletion of the long arm of chromosome type 8|chromosome 8q deletion|monosomy 8q|partial deletion of chromosome 8q|8q monosomy|deletion 8q|partial monosomy 8q MESH:C537828|GARD:0003770|UMLS:C0795828|Orphanet:262065|ICD10:Q93.5 owl:Class FOODON:03412215 biolink:NamedThing mud crab family Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab] tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:18407 biolink:NamedThing hydrogen cyanide A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom tmpte7i6ely_mondo_relaxed.owl hydrogen(nitridocarbonate)|methanenitrile|HCN|hydridonitridocarbon|Cyanwasserstoff|hydrogen cyanide|[CHN]|Blausaeure|formonitrile|hydrocyanic acid|Hydrogen cyanide owl:Class HGNC:10006 biolink:NamedThing RHAG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014952 biolink:NamedThing intellectual disability-epilepsy-extrapyramidal syndrome tmpte7i6ely_mondo_relaxed.owl DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder UMLS:C4310683|OMIM:617171|Orphanet:468620 owl:Class MONDO:0019448 biolink:NamedThing benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. tmpte7i6ely_mondo_relaxed.owl familial adult myoclonic epilepsy|benign adult familial myoclonus epilepsy|familial cortical myoclonic tremor and epilepsy|autosomal dominant cortical myoclonus and epilepsy|BAFME|FCMTE|ADCME|FAME OMIM:615400|OMIM:613608|Orphanet:86814|OMIM:607876|UMLS:C4273988|UMLS:CN206220|OMIM:601068|ICD10:G40.3|SCTID:717225001|OMIM:615127|DOID:0111689 owl:Class MONDO:0000160 biolink:NamedThing epilepsy, familial adult myoclonic tmpte7i6ely_mondo_relaxed.owl OMIMPS:601068|DOID:0111689 owl:Class MONDO:0022109 biolink:NamedThing catatrichy tmpte7i6ely_mondo_relaxed.owl forelock 2022-04-01 MESH:C535346|UMLS:C1861799|GARD:0010080 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none https://rarediseases.info.nih.gov/diseases/10080/catatrichy owl:Class MONDO:0002917 biolink:NamedThing disorder of pilosebaceous unit A disease that involves the pilosebaceous unit. tmpte7i6ely_mondo_relaxed.owl pilosebaceous unit disease|disease of pilosebaceous unit|pilosebaceous unit disease or disorder|hair disorder|hair/hair follicle diseases|hair disease|hair and hair follicle diseases|disorder of pilosebaceous unit|disease or disorder of pilosebaceous unit MESH:D006201|ICD9:704.9|DOID:421|UMLS:C0554472|ICD9:704.8|UMLS:C0018500|NCIT:C34656|SCTID:201128002 owl:Class ECTO:9001334 biolink:NamedThing exposure to primary alcohol An exposure to primary alcohol. tmpte7i6ely_mondo_relaxed.owl exposure to primary alcohol owl:Class MONDO:0004417 biolink:NamedThing nested variant infiltrating bladder urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, nested variant DOID:7969|UMLS:C1512741|NCIT:C39819 owl:Class UBERON:0001961 biolink:NamedThing mucosa-associated lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:5000000 biolink:NamedThing exposure to geographic feature A exposure event involving the interaction of an exposure receptor to geographic feature. tmpte7i6ely_mondo_relaxed.owl geographic feature exposure owl:Class UBERON:0003248 biolink:NamedThing epithelium of footplate tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001910 biolink:NamedThing regulation of leukocyte mediated cytotoxicity Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. tmpte7i6ely_mondo_relaxed.owl regulation of immune cell mediated cytotoxicity|regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell death|regulation of immune cell mediated cell killing owl:Class MONDO:0004875 biolink:NamedThing xanthogranulomatous cholecystitis Cholecystitis that is characterized by nodules containing lipid. tmpte7i6ely_mondo_relaxed.owl CX MESH:C536762|GARD:0009451|UMLS:C1337035|SCTID:448286002|NCIT:C35792|DOID:9766 https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis owl:Class MONDO:0003820 biolink:NamedThing mature ovarian teratoma An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. tmpte7i6ely_mondo_relaxed.owl mature teratoma of the ovary|mature ovarian teratoma|mature teratoma of ovary|mature teratoma|ovary mature teratoma UMLS:C1334637|ONCOTREE:OMT|DOID:6231|NCIT:C8112 owl:Class HGNC:7698 biolink:NamedThing NDUFB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009107 biolink:NamedThing diastrophic dysplasia Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). tmpte7i6ely_mondo_relaxed.owl diastrophic dysplasia|DD|DTD|diastrophic dysplasia, Broad bone-Platyspondylic variant|diastrophic dwarfism MESH:C536170|DOID:14687|ICD10:Q77.5|GARD:0006275|OMIM:222600|ICD9:756.89|SCTID:58561002|Orphanet:628 owl:Class NCIT:C45981 biolink:NamedThing Presence of a Hormonal Syndrome tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140353 biolink:NamedThing lipid export from cell The directed movement of a lipid from a cell, into the extracellular region. tmpte7i6ely_mondo_relaxed.owl lipid efflux owl:Class GO:0140352 biolink:NamedThing export from cell The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. tmpte7i6ely_mondo_relaxed.owl efflux owl:Class MONDO:0012692 biolink:NamedThing renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies tmpte7i6ely_mondo_relaxed.owl renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies OMIM:611555|UMLS:C1969055|MESH:C566918 owl:Class MONDO:0005312 biolink:NamedThing pouchitis Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative). tmpte7i6ely_mondo_relaxed.owl EFO:0003921|Orphanet:217067|MESH:D019449|ICD9:569.71|UMLS:C0376620|ICD10:K91.850 owl:Class MONDO:0004667 biolink:NamedThing sublingual gland cancer A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant sublingual gland tumor|sublingual gland cancer|malignant tumor of the sublingual gland|malignant tumor of sublingual gland|malignant neoplasm of sublingual gland|malignant sublingual gland neoplasm|cancer of sublingual gland|malignant neoplasm of the sublingual gland ICD9:142.2|UMLS:C0153361|ICD10:C08.1|SCTID:363381003|NCIT:C3527|DOID:8849 owl:Class MONDO:0044743 biolink:NamedThing major salivary gland cancer A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant tumor of major salivary gland|malignant major salivary gland tumor|malignant neoplasm of major salivary gland|malignant neoplasm of major salivary glands|malignant neoplasm of Major salivary gland|malignant major salivary gland neoplasm|malignant neoplasm of the Major salivary gland|malignant tumor of the major salivary gland|cancer of major salivary gland NCIT:C4762|DOID:8850|UMLS:C0496763|SCTID:363378008 owl:Class CHEBI:27594 biolink:NamedThing carbon atom tmpte7i6ely_mondo_relaxed.owl carbon|carbonium|carbono|6C|C|Kohlenstoff|Carbon|carbone owl:Class CL:2000082 biolink:NamedThing melanocyte of foreskin Any melanocyte of skin that is part of a skin of prepuce of penis. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T19:10:45Z cell owl:Class CL:1000458 biolink:NamedThing melanocyte of skin A melanocyte that is part of the skin of body. tmpte7i6ely_mondo_relaxed.owl skin melanocyte CALOHA:TS-2374|FMA:72144 cell owl:Class MONDO:0100072 biolink:NamedThing neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients. tmpte7i6ely_mondo_relaxed.owl 2019-01-23 23:06:10+00:00 This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo). owl:Class HGNC:7679 biolink:NamedThing NDRG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044907 biolink:NamedThing metastatic squamous cell carcinoma A squamous cell carcinoma which has spread from its original site of growth to another anatomic site. tmpte7i6ely_mondo_relaxed.owl Metastatic squamous cell carcinoma SCTID:403906006|NCIT:C4104|UMLS:C0334246 owl:Class HGNC:6440 biolink:NamedThing KRT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007029 biolink:NamedThing branchio-oto-renal syndrome A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). tmpte7i6ely_mondo_relaxed.owl branchiootorenal syndrome|Branchio-otorenal dysplasia|bor syndrome|branchio-oto-renal syndrome|branchiootorenal dysplasia|Branchio-Oto-renal syndrome|Melnick-Fraser syndrome|Branchio oto renal syndrome ICD9:759.89|MESH:D019280|SCTID:290006|DOID:14702|MedDRA:10071135|UMLS:CN043574|UMLS:C0265234|OMIM:113650|EFO:1001251|NCIT:C98983|OMIM:610896|ICD10:Q87.8|GARD:0010147|Orphanet:107|Wikipedia:Branchio-oto-renal_syndrome (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. owl:Class HP:0012649 biolink:NamedThing Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022803 peter 2014-02-01T01:29:58Z human_phenotype owl:Class MONDO:0002592 biolink:NamedThing invasive malignant thymoma A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues. tmpte7i6ely_mondo_relaxed.owl infiltrating thymoma|malignant thymoma, invasive|invasive malignant thymoma|thymoma malignant invasive NCIT:C7904|UMLS:C0278846|DOID:3283 owl:Class MONDO:0015565 biolink:NamedThing cap polyposis Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. tmpte7i6ely_mondo_relaxed.owl polypoid prolapsing folds|Cap inflammatory polyposis|eroded polypoid hyperplasia|inflammatory myoglandular polyps ICD10:D12.6|SCTID:720604008|Orphanet:160148|UMLS:C4303971 owl:Class MONDO:0015554 biolink:NamedThing typical urticaria pigmentosa tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.2|Orphanet:158766 owl:Class MONDO:0013942 biolink:NamedThing peroxisome biogenesis disorder 8A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 9|PBD8A|peroxisome biogenesis disorder 8A (Zellweger)|peroxisome biogenesis disorder, complementation group D DOID:0080483|OMIM:614876|UMLS:C3553959 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class PATO:0001687 biolink:NamedThing elevation A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011998 biolink:NamedThing autosomal dominant slowed nerve conduction velocity Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant slowed nerve conduction velocity|SNCV|slowed nerve conduction velocity, autosomal dominant Orphanet:140481|ICD10:G60.0|UMLS:C1842357|SCTID:764854006|MESH:C564269|OMIM:608236 owl:Class MONDO:0007450 biolink:NamedThing neurohypophyseal diabetes insipidus Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. tmpte7i6ely_mondo_relaxed.owl pituitary diabetes insipidus|diabetes insipidus, cranial type|AVP deficiency|hereditary central diabetes insipidus|neurogenic diabetes insipidus|hereditary neurogenic diabetes insipidus|vasopressin defective diabetes insipidus|diabetes insipidus, primary central|hereditary CDI|pituitary gland diabetes insipidus|antidiuretic hormone deficiency|diabetes insipidus, neurohypophyseal|ADH deficiency|diabetes insipidus of pituitary gland|Arginine vasopressin deficiency|vasopressin deficiency Orphanet:178029|NCIT:C84933|Orphanet:30925|SCTID:15771004|ICD10:E23.2|OMIM:125700|SCTID:45369008|DOID:12388 owl:Class MONDO:0010612 biolink:NamedThing hydrocephaly-cerebellar agenesis syndrome This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported. tmpte7i6ely_mondo_relaxed.owl cerebellum agenesis hydrocephaly|X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome|hydrocephalus with cerebellar agenesis MESH:C564407|Orphanet:1397|UMLS:C1844005|ICD10:Q04.3|OMIM:307010|GARD:0001200 https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly owl:Class MONDO:0005229 biolink:NamedThing bacterial infectious disease with sepsis An infectious disease caused by bacteria causing sepsis. tmpte7i6ely_mondo_relaxed.owl bacteremia|bacterial sepsis|symptomatic bacteremia|Bacteremias UMLS:C0004610|NCIT:C102993|DOID:0040085|EFO:0003033|SCTID:5758002|MESH:D016470|Wikipedia:Bacteremia|ICD9:790.7 owl:Class MONDO:0004176 biolink:NamedThing childhood extraosseous osteosarcoma An osteosarcoma arising from the soft tissue, and occurring during childhood. tmpte7i6ely_mondo_relaxed.owl childhood extraskeletal osteosarcoma|pediatric extraskeletal osteosarcoma|childhood extraosseous osteosarcoma|pediatric extraosseous osteosarcoma|extraosseous osteosarcoma of childhood UMLS:C1332968|NCIT:C27376|DOID:7297 owl:Class MONDO:0002621 biolink:NamedThing extraosseous osteosarcoma An osteosarcoma arising from the soft tissue. tmpte7i6ely_mondo_relaxed.owl extraskeletal osteogenic sarcoma|soft tissue osteosarcoma|extraosseous osteosarcoma|osteosarcoma, extraskeletal, malignant|extraskeletal osteosarcoma DOID:3357|UMLS:C0855052|SCTID:404077005|NCIT:C8810|ICD9:170.9 owl:Class MONDO:0019828 biolink:NamedThing pituitary stalk interruption syndrome Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. tmpte7i6ely_mondo_relaxed.owl ectopic neurohypophysis|hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary|PSIS UMLS:CN206776|NCIT:C121150|Orphanet:95496|ICD10:E23.6|UMLS:C4053775|GARD:0013209|SCTID:715727009 https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome owl:Class MONDO:0025061 biolink:NamedThing edema disease of swine An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema. tmpte7i6ely_mondo_relaxed.owl swine edema disease|swine edema diseases UMLS:C0013605|MESH:D004488 owl:Class MONDO:0013505 biolink:NamedThing spermatogenic failure 9 Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene. tmpte7i6ely_mondo_relaxed.owl globozoospermia, total|spermatogenic failure 9|spermatogenic failure type 9|azoospermia caused by mutation in DPY19L2|SPGF9|globozoospermia, complete|DPY19L2 azoospermia Orphanet:399808|DOID:0070175|OMIM:613958|UMLS:C3151407|Orphanet:171709 owl:Class UBERON:0004314 biolink:NamedThing distal phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014487 biolink:NamedThing distal phalanx of digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010036 biolink:NamedThing congenital secretory sodium diarrhea 3 Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. tmpte7i6ely_mondo_relaxed.owl diarrhea 3, secretory sodium, congenital, syndromic|secretory diarrhea caused by mutation in SPINT2|DIAR3|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|congenital secretory sodium diarrhea 3 with or without other congenital anomalies|SPINT2 secretory diarrhea|congenital secretory sodium diarrhea type 3|sodium diarrhea, congenital|congenital secretory sodium diarrhea 3 syndromic DOID:0060781|OMIM:270420|Orphanet:103908|ICD10:P78.3 owl:Class HP:0002970 biolink:NamedThing Genu varum A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. tmpte7i6ely_mondo_relaxed.owl Genua vara|Outward bowing at knees|Outward bow-leggedness|Genu vara UMLS:C0544755|MSH:D056305|SNOMEDCT_US:299331007 HP:0003052 human_phenotype owl:Class CHEBI:76840 biolink:NamedThing EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category. tmpte7i6ely_mondo_relaxed.owl EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitor|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitors|EC 1.14.99.* inhibitor|EC 1.14.99.* inhibitors owl:Class GO:1902476 biolink:NamedThing chloride transmembrane transport The process in which chloride is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008395 biolink:NamedThing Ruvalcaba syndrome Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. tmpte7i6ely_mondo_relaxed.owl Ruvalcaba syndrome UMLS:C0265248|GARD:0004748|SCTID:3073006|ICD10:Q87.8|MESH:C579395|ICD9:759.89|OMIM:180870|Orphanet:3121 https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome owl:Class MONDO:0100001 biolink:NamedThing alpha-gal syndrome An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal). tmpte7i6ely_mondo_relaxed.owl allergic galactose-alpha-1,3-galactose disease 2018-03-13 04:40:23+00:00 owl:Class HGNC:6217 biolink:NamedThing KATNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002396 biolink:NamedThing nephrogenic adenofibroma A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. tmpte7i6ely_mondo_relaxed.owl metanephric adenofibroma NCIT:C39812|DOID:2698|ICDO:8965/0|UMLS:C1266141 owl:Class MONDO:0045011 biolink:NamedThing keratinization disease tmpte7i6ely_mondo_relaxed.owl keratinization disease|disorder of keratinization SCTID:277905003|UMLS:C0475811 owl:Class UBERON:0004831 biolink:NamedThing esophagus skeletal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003898 biolink:NamedThing skeletal muscle tissue of trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007344 biolink:NamedThing cluster headache, familial An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary cluster headache syndrome|cluster headache, familial OMIM:119915|UMLS:C1861513|MESH:C566117 owl:Class MONDO:0005125 biolink:NamedThing borderline leprosy A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. tmpte7i6ely_mondo_relaxed.owl Midborderline leprosy|borderline leprosy [group B]|borderline or dimorphous leprosy UMLS:C0023346|UMLS:C3251797|ICD9:030.3|DOID:1023|MESH:D015439|EFO:0001055|ICD10:A30.3|SCTID:400154003 owl:Class MONDO:0016394 biolink:NamedThing sporadic infantile bilateral striatal necrosis Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. tmpte7i6ely_mondo_relaxed.owl sporadic infantile striatonigral necrosis|sporadic infantile striatonigral degeneration|acute bilateral striatal necrosis|sporadic IBSN|ABSN ICD10:G23.2|Orphanet:225147 owl:Class HGNC:2736 biolink:NamedThing DDX11 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005085 biolink:NamedThing ectodermal placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011901 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. tmpte7i6ely_mondo_relaxed.owl CMT2H|AR-CMT2C|Charcot Marie Tooth disease type 2H|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features|Charcot-Marie-Tooth disease type 2H|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|CMT 2H|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|axonal Charcot-Marie-Tooth disease with pyramidal involvement|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|Charcot-Marie-Tooth disease, axonal, type 2H|autosomal recessive axonal CMT4C2 OMIM:607731|UMLS:C1843173|SCTID:720637005|MESH:C535415|ICD10:G60.0|GARD:0009196|DOID:0110166|Orphanet:101102 Not in the OMIM series. owl:Class MONDO:0008637 biolink:NamedThing bifid uvula Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. tmpte7i6ely_mondo_relaxed.owl uvula, bifid|bifidity of the uvula|uvular cleft|uvula, cleft OMIM:192100|Orphanet:99771|SCTID:18910001|ICD10:Q35.7 owl:Class GO:0042698 biolink:NamedThing ovulation cycle The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048511 biolink:NamedThing rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. tmpte7i6ely_mondo_relaxed.owl rhythm owl:Class MONDO:0001965 biolink:NamedThing sclerosing keratitis tmpte7i6ely_mondo_relaxed.owl sclerokeratitis UMLS:C0155090|SCTID:27886001|ICD9:370.54|DOID:14444|ICD10:H16.33 owl:Class MONDO:0018846 biolink:NamedThing penile agenesis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. tmpte7i6ely_mondo_relaxed.owl penis agenesis|Aphallus|congenital absence of penis|penis agenesia|micropenis|Aphallia|agenesis of the penis GARD:0004272|NCIT:C99009|MESH:C536649|Orphanet:49|SCTID:59981001|ICD10:Q55.5 owl:Class CHEBI:84144 biolink:NamedThing L-phenylalanine derivative A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine by a heteroatom. tmpte7i6ely_mondo_relaxed.owl L-phenylalanine derivatives owl:Class CHEBI:83811 biolink:NamedThing proteinogenic amino acid derivative Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom. tmpte7i6ely_mondo_relaxed.owl canonical amino-acid derivatives|canonical amino acid derivatives|proteinogenic amino acid derivatives|proteinogenic amino-acid derivative|canonical amino-acid derivative|proteinogenic amino-acid derivatives|canonical amino acid derivative owl:Class MONDO:0010554 biolink:NamedThing Abruzzo-Erickson syndrome Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. tmpte7i6ely_mondo_relaxed.owl CHARGE-like syndrome|Abruzzo-Erickson syndrome|cleft palate-coloboma-deafness syndrome|ABERS|CHARGE-like syndrome, X-linked|CHARGE like syndrome X-linked MESH:C535559|OMIM:302905|Orphanet:921|SCTID:718574003|ICD10:Q87.8|GARD:0000360|UMLS:C1844862 https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome owl:Class MONDO:0015827 biolink:NamedThing distal renal tubular acidosis Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. tmpte7i6ely_mondo_relaxed.owl classic RTA|distal renal tubular acidosis|dRTA|renal tubular acidosis type 1|distal renal tubular acidosis (disease)|familial distal primary acidosis|renal tubular acidosis, distal distal renal tubular acidosis (disease) Orphanet:18|OMIM:602722|MedDRA:10045224|OMIM:611590|HP:0008341|ICD10:N25.8|ICD9:588.89|SCTID:236461000|OMIM:267300|OMIMPS:179800|GARD:0004667|OMIM:179800 owl:Class UBERON:0037144 biolink:NamedThing wall of heart tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000902 biolink:NamedThing cell morphogenesis The developmental process in which the size or shape of a cell is generated and organized. tmpte7i6ely_mondo_relaxed.owl cellular morphogenesis owl:Class HGNC:568 biolink:NamedThing AP3D1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020542 biolink:NamedThing malignant Sertoli-Leydig cell tumor of ovary Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. tmpte7i6ely_mondo_relaxed.owl virilizing ovarian tumor|ovarian Sertoli-Leydig cell cancer|malignant ovarian Sertoli-Leydig cell tumor|ovarian malignant Sertoli-Leydig cell tumor|Arrhenoblastoma|ovarian Sertoli-Leydig cell tumor, malignant|malignant ovarian sertoli-Leydig cell tumor|ovarian sertoli-Leydig cell tumor, malignant|malignant Sertoli-Leydig cell tumor of the ovary|Androblastoma UMLS:CN207443|Orphanet:99916|ICD9:239.5|UMLS:C0342515|ICD10:C56|SCTID:237795006 owl:Class MONDO:0036595 biolink:NamedThing ovarian Sertoli-Leydig cell tumor A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. tmpte7i6ely_mondo_relaxed.owl Sertoli-Leydig cell tumor of ovary|androblastoma|Sertoli-Leydig cell tumor of the ovary|Sertoli-Leydig neoplasm of the ovary|arrhenoblastoma|Sertoli-Leydig neoplasm of ovary|ovarian Sertoli-Leydig cell neoplasm|ovarian Sertoli-Leydig cell tumor SCTID:254866007|NCIT:C2880|EFO:1000429|UMLS:C0003810 owl:Class MONDO:0040728 biolink:NamedThing Campylobacter fetus infectious disease tmpte7i6ely_mondo_relaxed.owl infection by Campylobacter fetus|infection by vibrio fetus|infection caused by vibrio fetus|infection caused by Campylobacter fetus UMLS:C0275979|SCTID:111835002 owl:Class CHEBI:24473 biolink:NamedThing halogen tmpte7i6ely_mondo_relaxed.owl group 17 elements|halogenes|halogens|halogenos|halogene|halogeno|halogen|group VII elements|Halogene owl:Class GO:0010466 biolink:NamedThing negative regulation of peptidase activity Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:68336 biolink:NamedThing Bacteroidetes/Chlorobi group tmpte7i6ely_mondo_relaxed.owl CFB/Chlorobi group|Cytophagales/Green sulfur bacteria group|CFB/Green sulfur bacteria group GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1783270 biolink:NamedThing FCB group tmpte7i6ely_mondo_relaxed.owl Fibrobacteres-Chlorobi-Bacteroidetes superphylum|Fibrobacter/Acidobacteria group|Fibrobacteres/Acidobacteria group GC_ID:11 NCBITaxon:131550 ncbi_taxonomy owl:Class MONDO:0030353 biolink:NamedThing Joubert syndrome 38 tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 38|JBTS38 OMIM:619476 owl:Class CL:0000351 biolink:NamedThing trophoblast cell A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface. tmpte7i6ely_mondo_relaxed.owl trophoblastic cell FMA:83028 cell owl:Class MONDO:0001051 biolink:NamedThing acute otitis externa Acute form of otitis externa. tmpte7i6ely_mondo_relaxed.owl tank ear|acute otitis externa|acute otitis externa, diffuse|acute bacterial inflammation of external ear|acute swimmers' ear|beach ear|acute swimmer's ear|otitis externa, acute UMLS:C0149948|DOID:10518|MEDGEN:508459|ICD9:380.12|SCTID:30250000 owl:Class MONDO:0017575 biolink:NamedThing mitochondrial neurogastrointestinal encephalomyopathy A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. tmpte7i6ely_mondo_relaxed.owl MNGIE|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|OGIMD|mitochondrial neurogastrointestinal encephalopathy syndrome|MNGIE syndrome|POLIP|oculogastrointestinal muscular dystrophy|mitochondrial Neurogastrointestingal encephalopathy|Mitochondrial neurogastrointestinal encephalopathy|myoneurogastrointestinal encephalopathy syndrome|thymidine phosphorylase deficiency GARD:0009920|ICD10:G71.3|MESH:C537477|SCTID:718214007|NCIT:C119678|Orphanet:298|OMIM:612075|OMIM:613662|OMIM:603041 https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome owl:Class MONDO:0016161 biolink:NamedThing cerebral gigantism-jaw cysts syndrome Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. tmpte7i6ely_mondo_relaxed.owl cerebral gigantism jaw cysts|Cramer Niederdellmann syndrome|Cramer-Niederdellmann syndrome Orphanet:2081|UMLS:CN200907|ICD10:Q04.8|SCTID:725418006|GARD:0001206 https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts owl:Class MONDO:0012659 biolink:NamedThing age related macular degeneration 9 Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene. tmpte7i6ely_mondo_relaxed.owl macular degeneration, age-related, 9|C3 age-related macular degeneration|macular Degeneration, age-related, type 9|ARMD9|age-related macular degeneration caused by mutation in C3|age related macular degeneration type 9 DOID:0110021|MESH:C566958|UMLS:C1969651|OMIM:611378 owl:Class NCBITaxon:721813 biolink:NamedThing Maleae tmpte7i6ely_mondo_relaxed.owl Pyreae|Pyrodae GC_ID:1 NCBITaxon:721812 ncbi_taxonomy owl:Class NCBITaxon:171637 biolink:NamedThing Amygdaloideae tmpte7i6ely_mondo_relaxed.owl Maloideae|Spiraeoideae GC_ID:1|PMID:24631854 NCBITaxon:171636|NCBITaxon:721786 ncbi_taxonomy owl:Class UBERON:0016565 biolink:NamedThing cerebral blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32877 biolink:NamedThing primary amine A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group. tmpte7i6ely_mondo_relaxed.owl Primary amine|R-NH2|Primary monoamine|RCH2NH2|primaeres Amin|primary amines owl:Class MONDO:0001590 biolink:NamedThing quadriplegia Paralysis of all four limbs. tmpte7i6ely_mondo_relaxed.owl bilateral diplegia|tetraplegia ICD10:G82.50|ICD10:G82.5|MESH:D011782|NCIT:C50721|ICD9:344.00|UMLS:C0034372|ICD9:344.09|SCTID:11538006|DOID:12835 owl:Class MONDO:0004010 biolink:NamedThing infiltrating renal pelvis/ureter urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl infiltrating ureter transitional cell carcinoma|infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating renal pelvis and ureter transitional cell carcinoma NCIT:C39879|UMLS:C1512750 owl:Class MONDO:0020717 biolink:NamedThing autosomal dominant woolly hair tmpte7i6ely_mondo_relaxed.owl ADWH OMIM:194300|DOID:0111573 owl:Class HP:0000272 biolink:NamedThing Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. tmpte7i6ely_mondo_relaxed.owl Zygomatic flattening|Underdevelopment of malar bone|Depressed malar region|Hypotrophic malar bone|Decreased size of malar bone|Flat cheekbone|Malar hypoplasia UMLS:C1858085|UMLS:C4280651 The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. HP:0005443|HP:0000312|HP:0004642|HP:0000332|HP:0005319|HP:0004658|HP:0100846|HP:0005455|HP:0004671 human_phenotype owl:Class HP:0012369 biolink:NamedThing Abnormality of malar bones An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. tmpte7i6ely_mondo_relaxed.owl Malar anomaly|Anomaly of the malar bones|Deformity of the malar bones|Malformation of the malar bones UMLS:C4022926 The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. peter 2013-10-13T02:37:51Z human_phenotype owl:Class MONDO:0001614 biolink:NamedThing intra-abdominal lymph node mast cell malignancy tmpte7i6ely_mondo_relaxed.owl mast cell malignancy of intra-abdominal lymph nodes|malignant mast cell tumors involving intra-abdominal lymph nodes DOID:13005|SCTID:188664008|ICD9:202.63|UMLS:C0153844 owl:Class MONDO:0024363 biolink:NamedThing rapid eye movement sleep disorder tmpte7i6ely_mondo_relaxed.owl repeated rapid eye movement sleep interruptions SCTID:192004002|ICD9:379.59 owl:Class MONDO:0010923 biolink:NamedThing proximal myopathy with focal depletion of mitochondria tmpte7i6ely_mondo_relaxed.owl proximal myopathy with focal depletion of mitochondria Orphanet:521305|UMLS:C1833453|MESH:C563453|OMIM:600706 owl:Class MONDO:0010159 biolink:NamedThing mismatch repair cancer syndrome 1 A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. tmpte7i6ely_mondo_relaxed.owl brain tumor-polyposis syndrome 1|constitutional mismatch repair deficiency syndrome|constitutional MIS-match repair deficiency syndrome|CNS tumors with familial polyposis of the colon|MMRCS1|mismatch repair cancer syndrome|mismatch repair cancer syndrome 1|mismatch repair deficiency|malignant tumors of the central nervous system associated with familial polyposis of the colon|CMMR-D|childhood cancer syndrome|brain tumor-polyposis syndrome|MMR deficiency|BTP1 syndrome|CMMR-D syndrome|glioma-polyposis syndrome|MMRCS|Turcot syndrome NCIT:C130202|UMLS:C0265325|MESH:C536928|GARD:0000420|SCTID:61665008|UMLS:C4321324|Orphanet:252202|OMIM:276300 owl:Class MONDO:0002371 biolink:NamedThing breast pericanalicular fibroadenoma A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures. tmpte7i6ely_mondo_relaxed.owl breast pericanalicular fibroadenoma|pericanalicular fibroadenoma of breast|pericanalicular breast fibroadenoma|pericanalicular fibroadenoma (morphologic abnormality)|pericanalicular fibroadenoma of the breast|pericanalicular fibroadenoma UMLS:C0334497|ICDO:9012/0|NCIT:C4272|DOID:2639 owl:Class UBERON:0003236 biolink:NamedThing epithelium of lower jaw tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012607 biolink:NamedThing asthma-related traits, susceptibility to, 5 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene. tmpte7i6ely_mondo_relaxed.owl asthma-related traits, susceptibility to, 5|inherited susceptibility to asthma caused by mutation in IRAK3|asthma-related traits, susceptibility to, type 5|ASRT5|IRAK3 inherited susceptibility to asthma OMIM:611064 owl:Class MONDO:0030515 biolink:NamedThing spermatogenic failure 63 tmpte7i6ely_mondo_relaxed.owl SPGF63 OMIM:619689 owl:Class UBERON:0005317 biolink:NamedThing pulmonary artery endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010481 biolink:NamedThing angioedema Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx. tmpte7i6ely_mondo_relaxed.owl giant urticaria|Quincke edema|edema, Quincke's|urticaria, giant|Urticarias, giant|angioneurotic edema|giant Urticarias|angioneurotic Edemas|Quinckes edema|Quincke's edema|angioedemas|Edemas, angioneurotic|edema, angioneurotic|angioneurotic oedema SCTID:400075008|MESH:D000799|HP:0100665|CSP:2716-7007|DOID:1558|EFO:0005532|SCTID:41291007|NCIT:C112175|ICD10:T78.3|ICD9:995.1 owl:Class MONDO:0007820 biolink:NamedThing fused mandibular incisors Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure. tmpte7i6ely_mondo_relaxed.owl Double tooth|'Double Tooth'|incisors, FUSED mandibular Orphanet:2287|SCTID:707796002|ICD10:K00.2|GARD:0002419|UMLS:CN201433|OMIM:147251 https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors owl:Class MONDO:0003550 biolink:NamedThing esophageal adenosquamous carcinoma An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components. tmpte7i6ely_mondo_relaxed.owl esophageal adenosquamous cancer|esophageal adenosquamous carcinoma|esophagus adenosquamous carcinoma NCIT:C27421|DOID:5625|UMLS:C2063886 owl:Class HGNC:11431 biolink:NamedThing STX16 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005027 biolink:NamedThing mucosa of frontal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009548 biolink:NamedThing renal hypomagnesemia 5 with ocular involvement Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl hypomagnesemia 5, renal, with ocular involvement|hypomagnesemia, renal, with ocular involvement|HOMG5|Meier Blumberg Imahorn syndrome|macular coloboma, bilateral, with hypercalciuria|FHHNCOI|FHHNC with severe ocular involvement|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|bilateral macular coloboma with hypercalciuria|idiopathic hypercalciuria with bilateral macular colobomata|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|Meier-Blumberg-Imahorn syndrome|hypercalciuria-bilateral macular coloboma syndrome|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement OMIM:248190|ICD10:E83.4|GARD:0003451|DOID:0060881|MESH:C536148|Orphanet:2196 https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome owl:Class MONDO:0006153 biolink:NamedThing colon juvenile polyp A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpte7i6ely_mondo_relaxed.owl retention polyp of colon|colon retention polyp|colonic juvenile polyp|juvenile polyp of the colon|colonic retention polyp|retention polyp of the colon|juvenile polyp of colon UMLS:C1333090|EFO:1000185|NCIT:C5518 owl:Class NCBITaxon:118969 biolink:NamedThing Legionellales tmpte7i6ely_mondo_relaxed.owl Legionellaceae group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1236 biolink:NamedThing Gammaproteobacteria tmpte7i6ely_mondo_relaxed.owl Proteobacteria gamma subdivision|gamma proteobacteria|gamma subgroup|Purple bacteria, gamma subdivision|g-proteobacteria|gamma subdivision GC_ID:11|PMID:16280474|PMID:23334881 ncbi_taxonomy owl:Class UBERON:0010355 biolink:NamedThing ossification center tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009208 biolink:NamedThing faciothoracogenital syndrome tmpte7i6ely_mondo_relaxed.owl faciothoracogenital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia|facio thoraco genital syndrome GARD:0002228|OMIM:227320|MESH:C536387|UMLS:C2931184 owl:Class ECTO:8000000 biolink:NamedThing exposure to environmental process A exposure event involving the interaction of an exposure receptor to environmental system process. tmpte7i6ely_mondo_relaxed.owl environmental system process exposure owl:Class MONDO:0011055 biolink:NamedThing distal monosomy 10p Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. tmpte7i6ely_mondo_relaxed.owl monosomy 10pter|deletion 10p|10p13-p14 Deletion syndrome|partial monosomy 10p|Dgs2|distal monosomy type 10p|10p deletion|DiGeorge syndrome/velocardiofacial syndrome complex 2|monosomy 10p|distal 10p deletion|chromosome 10p deletion|DiGeorge syndrome type 2|telomeric deletion 10p|10p monosomy|DiGeorge syndrome/velocardiofacial syndrome Complex type 2 OMIM:601362|UMLS:C4304502|SCTID:719686003|NCIT:C130982|ICD10:Q93.5|Orphanet:1580|MESH:C563337|UMLS:C1832431|GARD:0001323 owl:Class MONDO:0016892 biolink:NamedThing partial deletion of the short arm of chromosome 10 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 10p|partial deletion of the short arm of chromosome type 10|partial deletion of chromosome 10p|partial monosomy of the short arm of chromosome 10 Orphanet:261938|UMLS:C0795836|ICD10:Q93.5 owl:Class CL:0000365 biolink:NamedThing animal zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. tmpte7i6ely_mondo_relaxed.owl zygote EHDAA2:0004546|FMA:72395|BTO:0000854 cell owl:Class CL:0010017 biolink:NamedThing zygote A zygote in a plant or an animal. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019552 biolink:NamedThing centrifugal lipodystrophy Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. tmpte7i6ely_mondo_relaxed.owl lipodystrophia centrifugalis abdominalis infantilis Orphanet:90156|ICD10:E88.1 owl:Class MONDO:0019194 biolink:NamedThing localized lipodystrophy Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. tmpte7i6ely_mondo_relaxed.owl pressure-induced localized lipoatrophy (subtype)|drug-induced localized lipodystrophy (subtype)|centrifugal lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)|focal lipodystrophy|idiopathic localized lipodystrophy (subtype) NCIT:C131814|GARD:0005867|ICD10:E88.1|Orphanet:79088|UMLS:C4329999|UMLS:CN227583 https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy owl:Class MONDO:0012119 biolink:NamedThing asperger syndrome, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 3|ASPG3 UMLS:C1837434|OMIM:608781 owl:Class MONDO:0005259 biolink:NamedThing Asperger syndrome A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. tmpte7i6ely_mondo_relaxed.owl ASPG|autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language|asperger syndrome, susceptibility to DOID:0050432|OMIM:608638|OMIM:609954|OMIM:300497|MESH:D020817|NCIT:C97159|SCTID:23560001|Orphanet:1162|EFO:0003757|GARD:0005855|OMIMPS:608638|OMIM:608631|OMIM:300494|ICD10:F84.5|OMIM:608781 The name Aspergers is controversial, however, it seems to be the community accepted name. owl:Class MONDO:0002225 biolink:NamedThing ovarian sarcoma A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl ovarian sarcoma|sarcoma of ovary|sarcoma of the ovary|ovary sarcoma NCIT:C8267|SCTID:423627007|DOID:2146|UMLS:C0280746 owl:Class MONDO:0006940 biolink:NamedThing radial nerve lesion A peripheral nerve lesion that involves the radial nerve. tmpte7i6ely_mondo_relaxed.owl radial nerve lesions|peripheral nerve lesion of radial nerve|radial nerve peripheral nerve lesion|lesion of radial nerve DOID:12170|ICD10:G56.3|UMLS:C0154744|EFO:1001143|MedDRA:10061477|MESH:D020425|ICD10:G56.30|SCTID:16644004|ICD9:354.3|SCTID:193137006 owl:Class MONDO:0006682 biolink:NamedThing brachial plexus neuritis An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. tmpte7i6ely_mondo_relaxed.owl neuritis of brachial nerve plexus|acute shoulder neuritis|brachial neuritis|acute brachial radiculitis syndrome|parsonage Turner syndrome|acute brachial neuritis syndrome|idiopathic neuralgic amyotrophy|brachial nerve plexus neuritis|parsonage-Aldren-Turner syndrome|acute brachial neuritis EFO:1000843|MedDRA:10073002|ICD9:723.4|SCTID:72893007|NCIT:C84600|SCTID:26609002|MESH:D020968|DOID:3689|ICD10:G54.5|GARD:0004228|SCTID:3548001 owl:Class HsapDv:0000103 biolink:NamedThing 9-year-old human stage Child stage that refers to a child who is over 9 and under 10 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904253 biolink:NamedThing positive regulation of bile acid metabolic process Any process that activates or increases the frequency, rate or extent of bile acid metabolic process. tmpte7i6ely_mondo_relaxed.owl upregulation of bile acid metabolic process|upregulation of bile acid metabolism|up-regulation of bile acid metabolism|up regulation of bile acid metabolism|up-regulation of bile acid metabolic process|up regulation of bile acid metabolic process|activation of bile acid metabolic process|positive regulation of bile acid metabolism|activation of bile acid metabolism owl:Class MONDO:0012804 biolink:NamedThing hypertrophic cardiomyopathy 12 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. tmpte7i6ely_mondo_relaxed.owl CSRP3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 12|cardiomyopathy familial hypertrophic 12|CMH12|hypertrophic cardiomyopathy 12|hypertrophic cardiomyopathy type 12|cardiomyopathy, familial hypertrophic, 12|hypertrophic cardiomyopathy caused by mutation in CSRP3 UMLS:C2677491|DOID:0110318|OMIM:612124 owl:Class MONDO:0010142 biolink:NamedThing hypothyroidism due to TSH receptor mutations Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. tmpte7i6ely_mondo_relaxed.owl CHNG1|hypothyroidism, congenital, nongoitrous, 1|congenital nongoitrous hypothyroidism 1|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, congenital, nongoitrous, type 1|TSH resistance|thyrotropin resistance|hypothyroidism, Nonautoimmune|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to|congenital nongoitrous hypothryoidism 1 ICD10:E03.1|Orphanet:90673|UMLS:CN206435|UMLS:C3493776|OMIM:275200|DOID:0070126 owl:Class UBERON:0024045 biolink:NamedThing white matter of the cerebellar cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004247 biolink:NamedThing bone of dorsum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010077 biolink:NamedThing spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. tmpte7i6ely_mondo_relaxed.owl Smed short limb-abnormal calcification type|SMED short limb-hand type|Smed, short limb-abnormal calcification type|spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|Smed-SL|spondylometaepiphyseal dysplasia, short limb-hand type|Smed, short limb-hand type|spondylometaepiphyseal dysplasia short limb-hand type|Smed-SL/Ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type|Smed, type 2|spondylometaepiphyseal dysplasia short limb-abnormal calcification type|SMED type 2 Orphanet:93358|OMIM:271665|GARD:0010616|UMLS:C1849011|ICD10:Q77.7|MESH:C564794 owl:Class MONDO:0016294 biolink:NamedThing Hirschsprung disease-type D brachydactyly syndrome Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease with type d brachydactyly|Hirschsprung disease type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly|Hirschsprung disease with type D brachydactyly Orphanet:2150|MESH:C538319|GARD:0002700|ICD10:Q43.1|UMLS:C1844017|OMIM:306980 owl:Class HP:0001097 biolink:NamedThing Keratoconjunctivitis sicca Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. tmpte7i6ely_mondo_relaxed.owl Dry eye syndrome|Dry eyes|Xerophthalmia|Keratitis sicca SNOMEDCT_US:302896008|SNOMEDCT_US:363677007|UMLS:C0043349|MSH:D007638|UMLS:C0013238|UMLS:C0022575|SNOMEDCT_US:46152009|MSH:D015352|MSH:C531719|UMLS:C2930821|MSH:D014985 human_phenotype owl:Class HP:0001096 biolink:NamedThing Keratoconjunctivitis Inflammation of the cornea and conjunctiva. tmpte7i6ely_mondo_relaxed.owl UMLS:C0022573|MSH:D007637|SNOMEDCT_US:88151007 human_phenotype owl:Class MONDO:0016984 biolink:NamedThing nevus of Ota Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. tmpte7i6ely_mondo_relaxed.owl Ota's Nevus|oculodermal melanocytosis|oculocutaneous melanocytic Nevus|Nevus fusculoceruleus ophthalmomaxillaris NCIT:C7583|ICD10:D22.3|Orphanet:263425|MESH:D009507|EFO:1000396|SCTID:414929001|ICD9:224.0|UMLS:C0027961|MedDRA:10051713 owl:Class MONDO:0008723 biolink:NamedThing very long chain acyl-CoA dehydrogenase deficiency An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. tmpte7i6ely_mondo_relaxed.owl VLCAD|ACADVLD|VLCAD deficiency|very long-chain acyl-CoA dehydrogenase deficiency|VLCADD|acyl-CoA dehydrogenase, very long-chain deficiency|very long-chain acyl-Coenzyme A dehydrogenase deficiency|very long chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, very long-chain, deficiency OF SCTID:237997005|ICD10:E71.3|GARD:0005508|ICD10:E71.310|NCIT:C98647|DOID:0080155|Orphanet:26793|UMLS:C3887523|OMIM:201475 owl:Class MONDO:0020531 biolink:NamedThing long chain acyl-CoA dehydrogenase deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. tmpte7i6ely_mondo_relaxed.owl inborn long-chain-acyl-CoA dehydrogenase activity disorder|LCAD deficiency|ACADL deficiency|long chain acyl-CoA dehydrogenase deficiency|inborn error of long-chain-acyl-CoA dehydrogenase activity|LCAD|long-chain acyl-Coenzyme A dehydrogenase deficiency|long-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, long-chain deficiency|rare inborn error of long-chain-acyl-CoA dehydrogenase activity NCIT:C84537|MESH:C535690|Orphanet:99900|UMLS:C0220711|ICD10:E71.3|SCTID:237996001|GARD:0009700 owl:Class UBERON:0010272 biolink:NamedThing hyoid apparatus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003286 biolink:NamedThing extrahepatic bile duct leiomyoma A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct leiomyoma|leiomyoma of extrahepatic bile duct|leiomyoma of the extrahepatic bile duct NCIT:C5855|UMLS:C1333507|DOID:5125 owl:Class MONDO:0021402 biolink:NamedThing polyp of external auditory canal A polyp that involves the external acoustic meatus. tmpte7i6ely_mondo_relaxed.owl polyp of the external auditory canal|external acoustic meatus polyp|external Ear polyp|external auditory canal polyp SCTID:95211004|UMLS:C0339765|NCIT:C4366 owl:Class GO:2001170 biolink:NamedThing negative regulation of ATP biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of ATP synthesis|negative regulation of ATP regeneration|negative regulation of ATP formation|negative regulation of ATP biosynthesis|negative regulation of ATP anabolism owl:Class MONDO:0008160 biolink:NamedThing osteosclerosis with ichthyosis and fractures tmpte7i6ely_mondo_relaxed.owl cortical thickening of long bones with bowing and ichthyosis|osteosclerosis with ichthyosis and fractures MESH:C563483|OMIM:166740|UMLS:C1833697 owl:Class HGNC:30883 biolink:NamedThing TMEM126B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002820 biolink:NamedThing negative regulation of adaptive immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. tmpte7i6ely_mondo_relaxed.owl down-regulation of adaptive immune response|inhibition of adaptive immune response|down regulation of adaptive immune response|downregulation of adaptive immune response owl:Class MONDO:0003708 biolink:NamedThing extrahepatic bile duct small cell adenocarcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. tmpte7i6ely_mondo_relaxed.owl small cell extrahepatic bile duct carcinoma|extrahepatic bile duct small cell neuroendocrine carcinoma|Oat cell carcinoma of extrahepatic bile duct|extrahepatic bile duct small cell NEC|small cell adenocarcinoma of the extrahepatic bile duct|Oat cell extrahepatic bile duct carcinoma|small cell adenocarcinoma of extrahepatic bile duct|small cell extrahepatic bile duct neuroendocrine carcinoma|Oat cell carcinoma of the extrahepatic bile duct UMLS:C1335979|DOID:5926|NCIT:C5845 owl:Class MONDO:0015072 biolink:NamedThing liver neuroendocrine carcinoma An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. tmpte7i6ely_mondo_relaxed.owl liver neuroendocrine cancer|liver neuroendocrine carcinoma|neuroendocrine carcinoma of liver|primary hepatic neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|primary liver neuroendocrine carcinoma|HNEC|PHNEC Orphanet:100085|NCIT:C96787|UMLS:C3273031|ICD10:C22.7|UMLS:CN197365|SCTID:716652006 owl:Class MONDO:0100057 biolink:NamedThing food-dependent exercise-induced anaphylaxis A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis. tmpte7i6ely_mondo_relaxed.owl 2018-08-15 17:55:08+00:00 https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis owl:Class UBERON:0003428 biolink:NamedThing gonadal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002071 biolink:NamedThing supratentorial cancer Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation. tmpte7i6ely_mondo_relaxed.owl malignant supratentorial neoplasm|supratentorial neoplasms, malignant|malignant supratentorial tumor|brain neoplasm, supratentorial MESH:D015173|DOID:1659|ICD10:C71.0|NCIT:C4964 owl:Class MONDO:0004188 biolink:NamedThing iris spindle cell melanoma A spindle cell melanoma that involves the iris. tmpte7i6ely_mondo_relaxed.owl spindle cell melanoma of the iris|iris spindle cell melanoma|spindle cell melanoma of iris DOID:7328|UMLS:C1334287|NCIT:C6098 owl:Class UBERON:0011590 biolink:NamedThing commissure of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017534 biolink:NamedThing postaxial polydactyly type B, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295169|ICD10:Q69.0|UMLS:CN203265 owl:Class MONDO:0019674 biolink:NamedThing postaxial polydactyly type B tmpte7i6ely_mondo_relaxed.owl PAPB OMIM:174200|SCTID:715707008|Orphanet:93335|ICD10:Q69.0|UMLS:C1868120 owl:Class MONDO:0001148 biolink:NamedThing iliac vein thrombophlebitis A thrombophlebitis that involves the iliac vein. tmpte7i6ely_mondo_relaxed.owl phlebitis and thrombophlebitis of the iliac vein|thrombophlebitis of iliac vein|iliac vein thrombophlebitis UMLS:C0347887|SCTID:42861008|ICD10:I80.21|ICD9:451.81|DOID:10880 owl:Class MONDO:0004591 biolink:NamedThing impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. tmpte7i6ely_mondo_relaxed.owl ICD10:L40.1|DOID:8503|SCTID:65539006|EFO:1000715|ICD9:694.3|UMLS:C1314968 owl:Class NCBITaxon:66225 biolink:NamedThing Phaeoannellomyces tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008029 biolink:NamedThing Bethlem myopathy A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. tmpte7i6ely_mondo_relaxed.owl BTHLM1|benign autosomal dominant myopathy|Bethlem myopathy 1|benign congenital muscular dystrophy|Bethlem myopathy type 1 SCTID:718572004|UMLS:C1834674|MESH:C535436|OMIM:616471|OMIMPS:158810|GARD:0000873|NCIT:C126688|Orphanet:610|OMIM:158810|DOID:0050663|ICD10:G71.0 Editor note: consider separating type 1 form owl:Class MONDO:0015400 biolink:NamedThing frontonasal arteriovenous malformation Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure. tmpte7i6ely_mondo_relaxed.owl Orphanet:141168|ICD10:Q27.3 owl:Class MONDO:0015500 biolink:NamedThing facial arteriovenous malformation Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. tmpte7i6ely_mondo_relaxed.owl ICD10:Q27.3|Orphanet:156230|GARD:0012663 https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation owl:Class MONDO:0017757 biolink:NamedThing disorder of metabolite absorption and transport tmpte7i6ely_mondo_relaxed.owl Orphanet:309824|UMLS:CN227202 owl:Class MONDO:0013587 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase H-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl lactate dehydrogenase B deficiency|LDHBD|lactate dehydrogenase deficiency type B|LDH deficiency B|LDH-H subunit deficiency|glycogenosis due to lactate dehydrogenase H-subunit deficiency|GSD due to lactate dehydrogenase H-subunit deficiency ICD10:E74.0|UMLS:C3279904|GARD:0003161|Orphanet:284435|MESH:C563641|Orphanet:2364|OMIM:614128 https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency owl:Class MONDO:0016527 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|lactate dehydrogenase deficiency|LDH deficiency MESH:C580233|OMIM:614128|GARD:0003159|OMIM:612933|ICD10:E74.4|Orphanet:2364 owl:Class ECTO:9001935 biolink:NamedThing exposure to oxidising agent An exposure to oxidising agent. tmpte7i6ely_mondo_relaxed.owl exposure to oxidising agent owl:Class MONDO:0017132 biolink:NamedThing hereditary ATTR amyloidosis tmpte7i6ely_mondo_relaxed.owl familial transthyretin-related amyloidosis|hereditary ATTR amyloidosis|familial TTR-related amyloidosis UMLS:CN227096|Orphanet:271861 owl:Class GO:1901403 biolink:NamedThing positive regulation of tetrapyrrole metabolic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process. tmpte7i6ely_mondo_relaxed.owl up-regulation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolic process|positive regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process|upregulation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolism|activation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism owl:Class HGNC:11547 biolink:NamedThing TAF15 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006916 biolink:NamedThing non-keratinized epithelium of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010304 biolink:NamedThing non-keratinized stratified squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006978 biolink:NamedThing splenic infarction Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) tmpte7i6ely_mondo_relaxed.owl splenic infarcts|splenic infarction|splenic infarct|infarct of the spleen MESH:D013159|ICD10:D73.5|MedDRA:10041648|GARD:0009973|EFO:1001190|UMLS:C0037998|SCTID:22996003|DOID:2533|ICD9:289.59 owl:Class MONDO:0011407 biolink:NamedThing facial paresis, hereditary congenital, 2 tmpte7i6ely_mondo_relaxed.owl Mobius syndrome 3|Mobius syndrome 3, formerly|Moebius syndrome 3, formerly|Moebius syndrome 3|facial paresis, hereditary congenital, 2|HCFP2 Orphanet:306530|UMLS:C1858717|OMIM:604185 owl:Class MONDO:0021641 biolink:NamedThing Bunyaviridae infectious disease Virus diseases caused by the bunyaviridae. tmpte7i6ely_mondo_relaxed.owl Bunyavirus infection|disease due to Bunyaviridae|disease due to Bunyavirus|Bunyaviridae caused disease or disorder|Bunyaviridae infectious disease|Bunyavirus infections|disease caused by Bunyavirus|infections, Bunyavirus|Bunyaviridae disease or disorder|infections, Bunyaviridae|Bunyaviridae infection|disease caused by Bunyaviridae EFO:0007188|MESH:D002044|SCTID:105632002 owl:Class UBERON:0004001 biolink:NamedThing olfactory bulb layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019136 biolink:NamedThing Zygomycosis Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. tmpte7i6ely_mondo_relaxed.owl Zygomycota infectious disease|mucormycosis GARD:0010224|DOID:8485|ICD10:B46.1|ICD10:B46|Orphanet:73263|EFO:0007380|NCIT:C77212|SCTID:59277005|ICD10:B46.3|ICD10:B46.8|MedDRA:10028098|MedDRA:10061418|ICD9:117.7|UMLS:C0043541|MESH:D020096|ICD10:B46.4|ICD10:B46.9|ICD10:B46.2|ICD10:B46.0|ICD10:B46.5|MESH:D009091|SCTID:76627001 MONDO:0005860 https://rarediseases.info.nih.gov/diseases/10224/zygomycosis owl:Class MONDO:0015583 biolink:NamedThing 2p21 microdeletion syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. tmpte7i6ely_mondo_relaxed.owl Del(2)(p21)|monosomy 2p21|2p21 deletion syndrome UMLS:C4304537|ICD10:Q93.5|OMIM:606407|SCTID:719652007|Orphanet:163693|UMLS:CN199952 https://github.com/monarch-initiative/mondo/issues/3777 owl:Class FOODON:03302116 biolink:NamedThing cow milk (liquid) tmpte7i6ely_mondo_relaxed.owl milk|cow milk SUBSET_SIREN:F2116 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class MONDO:0015483 biolink:NamedThing mandibulofacial dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl bilateral and symmetric oto-mandibular dysplasia MedDRA:10051456|Orphanet:155899|MESH:D008342|ICD10:Q75.4 owl:Class MONDO:0008949 biolink:NamedThing cerebral malformation, seizures, hypertrichosis, and overlapping fingers tmpte7i6ely_mondo_relaxed.owl Muller Barth Menger syndrome|cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820|UMLS:C1859259|GARD:0003812|MESH:C537370 owl:Class UBERON:0009885 biolink:NamedThing interlobar artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014345 biolink:NamedThing retinitis pigmentosa 69 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene. tmpte7i6ely_mondo_relaxed.owl KIZ retinitis pigmentosa|RP69|retinitis pigmentosa 69|retinitis pigmentosa caused by mutation in KIZ|retinitis pigmentosa type 69 OMIM:615780|UMLS:C4014312|ICD10:H35.5|DOID:0110410 owl:Class CL:0000508 biolink:NamedThing type G enteroendocrine cell An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli. tmpte7i6ely_mondo_relaxed.owl G cell FMA:67609|BTO:0004108 cell owl:Class CL:0000506 biolink:NamedThing enkephalin secreting cell An endorphine cell that secretes enkephalin. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0004867 biolink:NamedThing upper respiratory tract disorder A disease involving the upper respiratory tract. tmpte7i6ely_mondo_relaxed.owl disease or disorder of upper respiratory tract|upper respiratory tract disease|disorder of upper respiratory tract|upper respiratory tract disease or disorder|disease of upper respiratory tract SCTID:201060008|ICD9:478.9|DOID:974|ICD9:478.1|ICD9:478.19 owl:Class MONDO:0024632 biolink:NamedThing defective phagocytic cell opsonization tmpte7i6ely_mondo_relaxed.owl defective phagocytic cell opsonization SCTID:234578009|UMLS:C0398733 owl:Class CHEBI:33465 biolink:NamedThing elemental pnictogen tmpte7i6ely_mondo_relaxed.owl elemental pnictogen|elemental pnictogens owl:Class HGNC:26894 biolink:NamedThing TPRN tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:597326 biolink:NamedThing pyridoxal 5'-phosphate(2-) The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate. tmpte7i6ely_mondo_relaxed.owl 3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate dianion|pyridoxal 5'-phosphate dianion|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl phosphate|pyridoxal 5'-phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate(2-) owl:Class CHEBI:176894 biolink:NamedThing vitamin B6 phosphate anion tmpte7i6ely_mondo_relaxed.owl vitamin B-6 phosphate anion|vitamin B-6 phosphate anions|vitamin B6 phosphate anions owl:Class UBERON:0006292 biolink:NamedThing shoulder joint primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010691 biolink:NamedThing Norrie disease Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. tmpte7i6ely_mondo_relaxed.owl Norrie-Warburg syndrome|Norrie disease|ND|NDP|atrophia bulborum hereditaria|Norrie-Warburg disease|fetal iritis syndrome|Norrie syndrome|nd|pseudoglioma|Anderson-Warburg syndrome|Episkopi blindness SCTID:15228007|MedDRA:10069760|MESH:C537849|ICD9:743.8|OMIM:310600|ICD10:H35.5|NCIT:C118634|DOID:0060844|Orphanet:649|GARD:0007224 https://rarediseases.info.nih.gov/diseases/7224/norrie-disease owl:Class MONDO:0000395 biolink:NamedThing alcohol-related birth defect A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. tmpte7i6ely_mondo_relaxed.owl alcohol related birth defect|ARBD DOID:0050668|NCIT:C92727|UMLS:C3146244 owl:Class MONDO:0003776 biolink:NamedThing renal pelvis inverted papilloma A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. tmpte7i6ely_mondo_relaxed.owl inverted papilloma of the kidney pelvis|inverted papilloma of the renal pelvis|renal pelvis inverted papilloma|inverted papilloma of kidney pelvis|kidney pelvis inverted papilloma|inverted papilloma of renal pelvis NCIT:C6187|UMLS:C1335751|DOID:6118 owl:Class UBERON:0034971 biolink:NamedThing aortic body tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034979 biolink:NamedThing nonchromaffin paraganglion tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000568 biolink:NamedThing amine precursor uptake and decarboxylation cell A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell. tmpte7i6ely_mondo_relaxed.owl APUD cell BTO:0003866|FMA:83114 cell owl:Class CL:0000165 biolink:NamedThing neuroendocrine cell An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals. tmpte7i6ely_mondo_relaxed.owl neurosecretory cell FMA:83810|BTO:0002691 cell owl:Class UBERON:0008346 biolink:NamedThing duodenal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011366 biolink:NamedThing ovarian germ cell tumor A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. tmpte7i6ely_mondo_relaxed.owl germ cell neoplasm of ovary|germ cell tumor of the ovary|ovary germ cell tumor|germ cell neoplasm of the ovary|ovarian germ cell tumor|germ cell tumor of ovary|ovarian germ cell neoplasm|ovarian germ cell cancer UMLS:C0238324|EFO:1000419|OMIM:603737|DOID:2156|SCTID:237059008|UMLS:C0346180|Orphanet:35807|ONCOTREE:OGCT|NCIT:C3873|ICD9:239.5|GARD:0009330 Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor' owl:Class GO:0002262 biolink:NamedThing myeloid cell homeostasis The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011808 biolink:NamedThing cataract 27 A cataract that has material basis in mutation in the region 2p12. tmpte7i6ely_mondo_relaxed.owl cataract 27|Ccnp|cataract 27 nuclear progressive|cataract type 27|CTRCT27|cataract 27, nuclear progressive Orphanet:98991|OMIM:607304|UMLS:C1846520|MESH:C564596|DOID:0110233|Orphanet:91492|ICD10:Q12.0 owl:Class MONDO:0032678 biolink:NamedThing developmental and epileptic encephalopathy, 71 tmpte7i6ely_mondo_relaxed.owl Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|EIEE71|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71|epileptic encephalopathy, early infantile, 71|DEE71 OMIM:618328 owl:Class GO:0010639 biolink:NamedThing negative regulation of organelle organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpte7i6ely_mondo_relaxed.owl negative regulation of organelle organisation|negative regulation of organelle organization and biogenesis owl:Class NCBITaxon:426439 biolink:NamedThing Haemaphysalinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:9988 biolink:NamedThing RFXAP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045780 biolink:NamedThing positive regulation of bone resorption Any process that activates or increases the frequency, rate or extent of bone resorption. tmpte7i6ely_mondo_relaxed.owl up-regulation of bone resorption|up regulation of bone resorption|upregulation of bone resorption|activation of bone resorption|stimulation of bone resorption owl:Class GO:0045124 biolink:NamedThing regulation of bone resorption Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021461 biolink:NamedThing benign neoplasm of hypopharynx A benign neoplasm that involves the hypopharynx. tmpte7i6ely_mondo_relaxed.owl benign tumor of the hypopharynx|benign neoplasm of the hypopharynx|hypopharynx benign neoplasm|benign tumor of hypopharynx|benign hypopharyngeal tumor|hypopharyngeal neoplasm, benign|benign hypopharyngeal neoplasm ICD9:210.8|ICD10:D10.7|NCIT:C3596|SCTID:92139000|UMLS:C0153939 owl:Class MONDO:0001875 biolink:NamedThing epicondylitis Inflammation of the lateral epicondyle. tmpte7i6ely_mondo_relaxed.owl medial epicondylitis|tennis elbow|archer's elbow|hockey elbow|inflammation of ectepicondyle of humerus|golfer's elbow|ectepicondyle of humerus inflammation|andrel epicondylitis|lateral epicondylitis|shooter's elbow UMLS:C0014488|SCTID:202855006|ICD10:M77.1|ICD9:726.32|MESH:D013716|NCIT:C34589|DOID:14087 owl:Class HP:0000608 biolink:NamedThing Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. tmpte7i6ely_mondo_relaxed.owl Pigmented macular degeneration SNOMEDCT_US:422338006|UMLS:C0024437 HP:0007694|HP:0007868 human_phenotype owl:Class HP:0001103 biolink:NamedThing Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. tmpte7i6ely_mondo_relaxed.owl Macula abnormality|Macular abnormality|Abnormality of the macula UMLS:C0730362|SNOMEDCT_US:312999006 The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. human_phenotype owl:Class MONDO:0003988 biolink:NamedThing sternum lymphoma A rare lymphoma that arises from the bone or soft tissue of the sternum. tmpte7i6ely_mondo_relaxed.owl lymphoma of sternum|sternal lymphoma|lymphoma of the sternum|primary sternal lymphoma|sternum lymphoma UMLS:C1336504|DOID:6762|NCIT:C6716 owl:Class MONDO:0005549 biolink:NamedThing renal cell adenocarcinoma A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of kidney|renal cell carcinoma, stage unspecified|kidney adenocarcinoma|RCC|renal cell adenocarcinoma|carcinoma, renal cell, malignant|renal cell carcinoma|renal cell cancer|adenocarcinoma of the kidney NCIT:C9385|ICDO:8312/3|EFO:0005708|ICDO:8311/1 Editor note: check relationship to RCC owl:Class MONDO:0018899 biolink:NamedThing posterior cortical atrophy Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl biparietal Alzheimer disease|PCA|Benson syndrome Orphanet:54247|UMLS:CN205270|ICD10:G31.1|SCTID:715574002 owl:Class UBERON:0003433 biolink:NamedThing arm nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010513 biolink:NamedThing positive regulation of phosphatidylinositol biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006536 biolink:NamedThing male reproductive gland secretion tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099500 biolink:NamedThing vesicle fusion to plasma membrane Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140029 biolink:NamedThing exocytic process The cellular processes that contribute to exocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004306 biolink:NamedThing childhood intracortical osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. tmpte7i6ely_mondo_relaxed.owl childhood intracortical osteosarcoma|childhood conventional osteosarcoma UMLS:C1332974|NCIT:C6590|DOID:7612 owl:Class HGNC:17759 biolink:NamedThing PDSS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25608 biolink:NamedThing VPS53 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013632 biolink:NamedThing sesamoid cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013631 biolink:NamedThing sesamoid element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001670 biolink:NamedThing tooth resorption Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) tmpte7i6ely_mondo_relaxed.owl ICD10:K03.3|UMLS:C0040451|SCTID:70931000|DOID:13240|ICD9:521.4|MESH:D014091 owl:Class MONDO:0002220 biolink:NamedThing tooth hard tissue disease tmpte7i6ely_mondo_relaxed.owl teeth hard tissue disease|teeth hard tissue diseases|disorder of hard tissues of teeth ICD10:K03|UMLS:C0155926|DOID:214|ICD9:521.89|ICD9:521.8|SCTID:46557008|ICD10:K03.89|ICD10:K03.8 owl:Class MONDO:0000014 biolink:NamedThing colorblindness, partial tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001703 biolink:NamedThing color vision disorder The absence of or defect in the perception of colors. tmpte7i6ely_mondo_relaxed.owl color vision defects|blindness color|color vision deficiency|color-vision disease|color blindness|colour vision deficiency|colour blindness DOID:13399|Orphanet:98658|UMLS:C0242225|UMLS:CN207064|ICD10:H53.50|ICD10:H53.5|SCTID:193683001|ICD9:368.59|ICD9:368.5|UMLS:C0009398|NCIT:C3891 owl:Class MONDO:0022430 biolink:NamedThing persistent fetal circulation syndrome A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. tmpte7i6ely_mondo_relaxed.owl PPHN|persistent fetal circulation|persistent pulmonary hypertension of the newborn NCIT:C85006|SCTID:233815004 Editor note: consider relationship to MONDO:0009934 owl:Class NCBITaxon:6300 biolink:NamedThing Tylenchina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000313 biolink:NamedThing hypophosphatemia Lower than normal levels of phosphates in the circulating blood. tmpte7i6ely_mondo_relaxed.owl hypophosphatemia (disease)|hypophosphatemia hypophosphatemia (disease) SCTID:4996001|UMLS:C0085682|MESH:D017674|DOID:0050336|NCIT:C37977|HP:0002148 owl:Class MONDO:0002319 biolink:NamedThing phosphorus metabolism disease A metabolic disorder that affects the phosphate homeostasis. tmpte7i6ely_mondo_relaxed.owl disorder of phosphorus metabolism|phosphorus disorder|phosphorus metabolic disorder|phosphorus metabolism disorder SCTID:87049008|ICD10:E83.3|ICD9:275.3|NCIT:C97095|UMLS:C0031707|MESH:D010760|DOID:2485 owl:Class MONDO:0014196 biolink:NamedThing Hartsfield-Bixler-Demyer syndrome tmpte7i6ely_mondo_relaxed.owl holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate|holoprosencephaly-ectrodactyly-cleft lip palate syndrome|HRTFDS|HARTSFIELD syndrome|Hartsfield-Bixler-Demyer syndrome Orphanet:2117|OMIM:615465|ICD10:Q87.8|UMLS:C1845146|MESH:C564484|SCTID:766032007 owl:Class CL:0002166 biolink:NamedThing epithelial cell of Malassez An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth. tmpte7i6ely_mondo_relaxed.owl epithelial debris of Malassez|epithelial cell rests of Malassez FMA:62987 tmeehan 2010-08-26T08:51:27Z cell owl:Class MONDO:0100280 biolink:NamedThing Waldenstrom macroglobulinemia tmpte7i6ely_mondo_relaxed.owl lymphoplasmacytic lymphoma with IgM gammopathy|macroglobulinemia of Waldenstrom|Waldenstrom's macroglobulinemia|Waldenstrom's syndrome|Waldenstrom macroglobulinemia|Waldenström macroglobulinemia|Waldenstrom's macroglobulinaemia|Waldenstroem's macroglobulinemia OMIM:610430|Orphanet:33226|DOID:0060901|NCIT:C80307|ICD10:C88.0|OMIMPS:153600|MESH:D008258|MedDRA:10047801|GARD:0007872|ONCOTREE:WM|UMLS:C0024419 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019004 biolink:NamedThing kidney Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. tmpte7i6ely_mondo_relaxed.owl adult nephroblastoma|Wilms tumor of the kidney|Wilms' tumor of the kidney|renal embryonic tumor|Wilms' tumor|renal Wilms tumor|nonanaplastic renal Wilm's tumor|kidney Wilms tumor|embryonal nephroma|nephroblastoma|nephroblastoma, malignant|Wilms tumor|childhood renal Wilms tumor|childhood renal Wilms' cancer|renal Wilms' tumor Orphanet:654|OMIM:601583|SCTID:302849000|OMIM:194071|OMIM:194070|GARD:0007892|MedDRA:10029145|DOID:2154|UMLS:C0027708|OMIM:616806|NCIT:C40407|ICD10:C64|ICDO:8960/3|OMIM:601363|ONCOTREE:WT|MESH:D009396|OMIM:194090|DOID:5176 owl:Class MONDO:0008892 biolink:NamedThing progressive familial intrahepatic cholestasis type 1 PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. tmpte7i6ely_mondo_relaxed.owl severe ATP8B1 deficiency|Byler's disease|cholestasis, progressive familial intrahepatic, 1|progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 1|cholestasis, fatal intrahepatic|PFIC1|FIC1 deficiency|Byler disease OMIM:211600|UMLS:CN205891|ICD10:K76.8|GARD:0009802|Orphanet:79306|UMLS:C0268312|Orphanet:172|DOID:0070226 owl:Class ENVO:01001191 biolink:NamedThing water surface The surface layer of a volume of water. tmpte7i6ely_mondo_relaxed.owl surface of a body of water|water body surface owl:Class ENVO:01001310 biolink:NamedThing liquid surface layer A surface layer which is composed primarily of some liquid. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048666 biolink:NamedThing neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26291 biolink:NamedThing BBS10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011589 biolink:NamedThing microphthalmia with coloboma 2 tmpte7i6ely_mondo_relaxed.owl microphthalmia, isolated, with coloboma 2|MCOPCB2|microphthalmia, colobomatous, isolated 2 UMLS:C1854018|MESH:C565300|OMIM:605738|Orphanet:98938 owl:Class MONDO:0007513 biolink:NamedThing ectodermal dysplasia with adrenal cyst tmpte7i6ely_mondo_relaxed.owl Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome|ectodermal dysplasia with adrenal cyst UMLS:C1851850|MESH:C538015|Orphanet:3391|OMIM:129550 owl:Class MONDO:0014076 biolink:NamedThing dyskeratosis congenita, autosomal recessive 5 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33. tmpte7i6ely_mondo_relaxed.owl DKCB5|DKCA4|dyskeratosis congenita, autosomal dominant 4|dyskeratosis congenita, autosomal recessive 5|autosomal recessive dyskeratosis congenita 5|autosomal dominant dyskeratosis congenita 4|dyskeratosis congenita, autosomal recessive type 5 Orphanet:3322|OMIM:615190|Orphanet:1775|UMLS:C3554656|DOID:0070022 owl:Class MONDO:0010344 biolink:NamedThing intellectual disability, X-linked 45 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. tmpte7i6ely_mondo_relaxed.owl MRX45|intellectual disability, X-linked type 45|ZNF81 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 45|mental retardation, X-linked type 45|non-syndromic X-linked intellectual disability caused by mutation in ZNF81|mental retardation, X-linked 45 MESH:C564503|OMIM:300498|UMLS:C1845333 owl:Class HGNC:20914 biolink:NamedThing BLOC1S3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000971 biolink:NamedThing IgM memory B cell An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative. tmpte7i6ely_mondo_relaxed.owl IgM memory B lymphocyte|IgM memory B-lymphocyte|memory IgM B lymphocyte|IgM memory B-cell|memory IgM B-lymphocyte|memory IgM B cell|memory IgM B-cell IgM memory B cells are also reportedly CD1c-positive, CD95-positive, CD80-positive, CD84-positive, CD86-positive, CD150-negative, CD229-positive, CD289-positive, and CD290-positive. Transcription factors: Notch2-positive, PAX5-positive, SpiB-positive, Ets1-positive, and OBF1-positive. cell owl:Class CL:0000787 biolink:NamedThing memory B cell A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative. tmpte7i6ely_mondo_relaxed.owl memory B-cell|memory B lymphocyte|memory B-lymphocyte Memory B-cells are also reportedly CD5-negative, CD10-negative, CD21-positive, CD22-positive, CD23-negative, CD24-positive, CD25-positive, CD27-positive, CD34-negative, CD38-negative, CD40-positive, CD43-negative, CD44-positive, CD45-positive, CD53-positive, CD80-negative, CD81-negative, CD86-positive, and CD196/CCR6-positive. cell owl:Class MONDO:0020501 biolink:NamedThing Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. tmpte7i6ely_mondo_relaxed.owl Crimean hemorrhagic fever|Crimean hemorrhagic fever [CHF Congo virus]|Crimean-Congo haemorrhagic fever|Congo-Crimean hemorrhagic fever|Congo hemorrhagic fever|CCHF|Congo fever|CHF Congo virus SCTID:402919000|MESH:D006479|DOID:12287|Orphanet:99827|ICD10:A98.0|NCIT:C34682|ICD9:065.0|UMLS:C0019099|UMLS:C1304456 owl:Class FOODON:00003318 biolink:NamedThing echinoderm food product tmpte7i6ely_mondo_relaxed.owl 2020-01-08 00:20:27+00:00 owl:Class HP:0030829 biolink:NamedThing Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. tmpte7i6ely_mondo_relaxed.owl UMLS:C0231856|SNOMEDCT_US:301273002 human_phenotype owl:Class MONDO:0002477 biolink:NamedThing prostate neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas. tmpte7i6ely_mondo_relaxed.owl prostate gland neuroendocrine neoplasm|prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade|prostate gland neuroendocrine tumor|neuroendocrine tumor of the prostate|neuroendocrine neoplasm of the prostate|prostate neuroendocrine neoplasm|neuroendocrine neoplasm of prostate gland|prostate gland NET|neuroendocrine neoplasm of prostate|prostate neuroendocrine carcinoma UMLS:C1335515|NCIT:C5545|ONCOTREE:PRNE|DOID:2992 owl:Class CL:0002032 biolink:NamedThing hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. tmpte7i6ely_mondo_relaxed.owl This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). tmeehan 2010-01-06T03:43:27Z cell owl:Class MONDO:0001453 biolink:NamedThing senile reticular retinal degeneration tmpte7i6ely_mondo_relaxed.owl Senile reticular degeneration of retina DOID:12163|ICD9:362.64|UMLS:C0154857|SCTID:54184008 owl:Class MONDO:0001451 biolink:NamedThing peripheral retinal degeneration Degeneration of the peripheral retina. tmpte7i6ely_mondo_relaxed.owl peripheral retinal Degeneration|peripheral degeneration of retina ICD9:362.60|ICD10:H35.4|ICD9:362.6|DOID:12161|UMLS:C1320640|NCIT:C34919|ICD10:H35.40|SCTID:405721006 owl:Class MONDO:0003839 biolink:NamedThing ovarian mucinous adenocarcinofibroma A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material. tmpte7i6ely_mondo_relaxed.owl ovarian mucinous malignant adenofibroma|ovarian mucinous adenocarcinofibroma UMLS:C2212014|DOID:6278|NCIT:C40034|ICDO:9015/3 owl:Class IAO:0000409 biolink:NamedThing denotator type A denotator type indicates how a term should be interpreted from an ontological perspective.|A denotator type indicates how a term should be interpreted from an ontological perspective. tmpte7i6ely_mondo_relaxed.owl Barry Smith, Werner Ceusters|Barry Smith, Werner Ceusters denotator type The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are "natural kinds" and the latter arbitrary collections of entities.|The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are "natural kinds" and the latter arbitrary collections of entities. Alan Ruttenberg|Alan Ruttenberg owl:Class IAO:0000102 biolink:NamedThing data about an ontology part data about an ontology part is a data item about a part of an ontology, for example a term|Data about an ontology part is a data item about a part of an ontology, for example a term tmpte7i6ely_mondo_relaxed.owl data about an ontology part Person:Alan Ruttenberg|Person:Alan Ruttenberg owl:Class MONDO:0009426 biolink:NamedThing hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. tmpte7i6ely_mondo_relaxed.owl hypoparathyroidism-retardation-dysmorphism syndrome|Sanjad-Sakati syndrome|Richardson-Kirk syndrome|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|HRD syndrome|hypoparathyroidism with short stature, intellectual disability and seizures|HRDS|hypoparathyroidism with short stature, mental retardation, and seizures|hypoparathyroidism with short stature, mental retardation and seizures|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|HRD|hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|SSS|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism with short stature, intellectual disability, and seizures GARD:0000411|UMLS:C1855840|Orphanet:2323|OMIM:241410|DOID:0060348|ICD10:Q87.1|NCIT:C133727|MESH:C537157 owl:Class MONDO:0021281 biolink:NamedThing cavernous hemangioma of retina A cavernous hemangioma that involves the retina. tmpte7i6ely_mondo_relaxed.owl retinal cavernous angioma|retina cavernous hemangioma|retinal cavernous hemangioma|cavernous angioma of retina|cavernous angioma of the retina|retina cavernous angioma|cavernous hemangioma of the retina UMLS:C0730304|SCTID:312937006|NCIT:C4921 owl:Class UBERON:0006924 biolink:NamedThing stomach glandular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005255 biolink:NamedThing pedal digit mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014122 biolink:NamedThing myofibromatosis, infantile, 2 Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene. tmpte7i6ely_mondo_relaxed.owl myofibromatosis, infantile, type 2|NOTCH3 myofibromatosis|myofibromatosis caused by mutation in NOTCH3|IMF2|myofibromatosis, infantile, 2 OMIM:615293|UMLS:C3809084|Orphanet:2591 owl:Class GO:0002430 biolink:NamedThing complement receptor mediated signaling pathway A series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway. tmpte7i6ely_mondo_relaxed.owl complement receptor mediated signalling pathway|immune response-regulating cell surface receptor signalling pathway owl:Class HGNC:13780 biolink:NamedThing GFM1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000800 biolink:NamedThing planet A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004103 biolink:NamedThing alveolar ridge tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010621 biolink:NamedThing CHILD syndrome CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. tmpte7i6ely_mondo_relaxed.owl child nevus|child syndrome|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|ichthyosis, child syndrome|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|CHILD syndrome|congenital hemidysplasia with ichthyosiform nevus and limbs defects|congenital hemidysplasia with ichthyosiform nevus and limb defects ICD10:Q87.8|Orphanet:139|ICD9:759.89|MESH:C562515|UMLS:C0265267|GARD:0006039|OMIM:308050|SCTID:17608003 https://rarediseases.info.nih.gov/diseases/6039/child-syndrome owl:Class MONDO:0021521 biolink:NamedThing benign neoplasm of mediastinum A benign neoplasm that involves the mediastinum. tmpte7i6ely_mondo_relaxed.owl benign tumor of mediastinum|benign tumor of the mediastinum|benign mediastinal neoplasm|mediastinum benign neoplasm|benign mediastinal tumor|benign neoplasm of the mediastinum SCTID:92214000|UMLS:C0153956|ICD10:D15.2|NCIT:C3604|ICD9:212.5 owl:Class UBERON:0003824 biolink:NamedThing nerve of thoracic segment tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011979 biolink:NamedThing epiphysis of distal phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010337 biolink:NamedThing mandibular process mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006905 biolink:NamedThing mandibular process mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003092 biolink:NamedThing lacrimal gland mucoepidermoid carcinoma An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells. tmpte7i6ely_mondo_relaxed.owl mucoepidermoid carcinoma of the lacrimal gland|lacrimal gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of lacrimal gland NCIT:C6091|UMLS:C1334359|DOID:4685 owl:Class HP:0005561 biolink:NamedThing Abnormality of bone marrow cell morphology An anomaly of the form or number of cells in the bone marrow. tmpte7i6ely_mondo_relaxed.owl Anomaly of the bone marrow cells|Bone marrow disease MSH:D001855|SNOMEDCT_US:127035006|UMLS:C0005956|UMLS:C4021634 peter 2008-03-27T10:46:00Z human_phenotype owl:Class MONDO:0022399 biolink:NamedThing retinal ciliopathy due to mutation in the RPGR gene tmpte7i6ely_mondo_relaxed.owl Orphanet:156171 owl:Class GO:0004860 biolink:NamedThing protein kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11943 biolink:NamedThing TNNC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004946 biolink:NamedThing hypoglycemia Abnormally low level of glucose in the blood. tmpte7i6ely_mondo_relaxed.owl glucose, Low blood|low blood glucose|blood glucose, Low|hypoglycaemia ICD9:251.2|NCIT:C3126|UMLS:C0020615|SCTID:302866003|DOID:9993|MESH:D007003|ICD9:251.1|ICD10:E16.2 owl:Class MONDO:0003852 biolink:NamedThing ovarian solid teratoma A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. tmpte7i6ely_mondo_relaxed.owl UMLS:C1335181|NCIT:C7285|DOID:6315 owl:Class UBERON:0005677 biolink:NamedThing caecum mesentery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003396 biolink:NamedThing mesentery of colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016884 biolink:NamedThing shoulder joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012280 biolink:NamedThing Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. tmpte7i6ely_mondo_relaxed.owl GOSHS|Goldberg-Shprintzen syndrome|Goldberg-Shprintzen megacolon syndrome|megacolon-microcephaly syndrome SCTID:717822006|GARD:0009849|DOID:0060481|OMIM:609460|ICD10:Q87.8|MESH:C537279|UMLS:C1836123|Orphanet:66629 owl:Class HGNC:19869 biolink:NamedThing SCARF2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5587 biolink:NamedThing Rhinocladiella tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010369 biolink:NamedThing nystagmus 5, congenital, X-linked tmpte7i6ely_mondo_relaxed.owl NYS5|NYSTAGMUS 5, congenital, X-linked UMLS:C1845116|OMIM:300589 owl:Class UBERON:0010328 biolink:NamedThing limb bud mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17993 biolink:NamedThing TRPM4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010052 biolink:NamedThing spermatogenic failure 4 Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene. tmpte7i6ely_mondo_relaxed.owl spermatogenesis arrest|azoospermia caused by mutation in SYCP3|azoospermia with maturation arrest|SPGF4|spermatogenic failure type 4|azoospermia due to Perturbations of meiosis|arrest of spermatogenesis|spermatogenic failure 4|SYCP3 azoospermia|pregnancy loss, recurrent, 4|pregnancy loss, recurrent, susceptibility to, 4 GARD:0008530|DOID:0070176|OMIM:270960|MESH:C536875 owl:Class MONDO:0019542 biolink:NamedThing acute liver failure Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. tmpte7i6ely_mondo_relaxed.owl fulminant hepatic failure|acute hepatic failure ICD10:K72.0|MESH:D017114|Orphanet:90062|SCTID:197270009|NCIT:C84396|UMLS:C0162557|MedDRA:10000804 owl:Class MONDO:0007741 biolink:NamedThing congenital hydronephrosis Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. tmpte7i6ely_mondo_relaxed.owl ICD9:753.29|NCIT:C102979|SCTID:16297002|ICD10:Q62.0|MedDRA:10050975|Orphanet:2190|UMLS:C0266316 Editor note: TODO check relationship to OMIM:143400 owl:Class GO:0090032 biolink:NamedThing negative regulation of steroid hormone biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003246 biolink:NamedThing sclerosing hepatic carcinoma An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae. tmpte7i6ely_mondo_relaxed.owl sclerosing hepatic carcinoma|scirrhous hepatocellular carcinoma|scirrhous hepatocellular cancer|sclerosing hepatocellular carcinoma ICDO:8172/3|DOID:5026|UMLS:C1266018|NCIT:C27388 owl:Class MONDO:0001490 biolink:NamedThing corneal granular dystrophy A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. tmpte7i6ely_mondo_relaxed.owl granular corneal dystrophy SCTID:45283008|NCIT:C34651|ICD9:371.53|MESH:D003317|ICD10:H18.53|UMLS:C0018179|DOID:12318 owl:Class MONDO:0005313 biolink:NamedThing necrotizing enterocolitis Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. tmpte7i6ely_mondo_relaxed.owl necrotizing enterocolitis|NEC|necrotizing enterocolitis in fetus or newborn UMLS:C4082937|SCTID:2707005|NCIT:C84915|Orphanet:391673|ICD9:777.5|EFO:0003928|MESH:D020345|UMLS:C0520459 owl:Class MONDO:0044346 biolink:NamedThing echinococcus granulosus infectious disease An disease or disorder caused by infection with Echinococcus granulosus. tmpte7i6ely_mondo_relaxed.owl Echinococcus granulosus caused disease or disorder|echinococcus granulosus infectious disease|Echinococcus granulosus infectious disease|echinococcus granulosus infection|unilocular hydatid disease|Echinococcus granulosus disease or disorder UMLS:C0152068|SCTID:75006000|ICD9:122.4|ICD9:122.3 owl:Class UBERON:0010231 biolink:NamedThing anatomical line between outer ears tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004289 biolink:NamedThing glottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. tmpte7i6ely_mondo_relaxed.owl verrucous carcinoma of the glottis|glottic verrucous carcinoma|glottis verrucous carcinoma|verrucous carcinoma of glottis UMLS:C0280329|NCIT:C8189|DOID:7583 owl:Class GO:0002764 biolink:NamedThing immune response-regulating signaling pathway The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response. tmpte7i6ely_mondo_relaxed.owl immune response-regulating signalling pathway owl:Class CL:2000057 biolink:NamedThing femural osteoblast Any osteoblast that is part of a femur. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=4610 TermGenie 2014-10-06T19:29:45Z cell owl:Class UBERON:0007997 biolink:NamedThing sesamoid bone of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011000 biolink:NamedThing guanylate cyclase 2E tmpte7i6ely_mondo_relaxed.owl guanylate cyclase type 2E|GUCY2EP|guanylate cyclase 2E, pseudogene|guanylate cyclase 2E|GUCY2E|GC-E|Gucy2D, mouse, homolog of|guanylyl cyclase, Membrane, type E OMIM:601138 owl:Class HGNC:24668 biolink:NamedThing CFHR5 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24531 biolink:NamedThing heterocyclic antibiotic tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:513042 biolink:NamedThing Dioctophyme tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:513040 biolink:NamedThing Dioctophymatidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0011400 biolink:NamedThing Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. tmpte7i6ely_mondo_relaxed.owl Abnormal formation of myelin sheaths UMLS:C4021152 In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. peter 2012-03-12T07:24:42Z HP:0002520|HP:0004335 human_phenotype owl:Class MONDO:0100197 biolink:NamedThing parainfluenza infectious disease A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults. tmpte7i6ely_mondo_relaxed.owl human parainfluenza virus infectious disorder|HPIV infectious disorder|parainfluenza infectious disorder|parainfluenza (disorder)|human parainfluenza viruses infectious disorder OMOP:4008269 Note - this is purposely unaxiomitized with an NCBI taxonomy term because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class MONDO:0009211 biolink:NamedThing congenital factor VII deficiency Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. tmpte7i6ely_mondo_relaxed.owl factor VII deficiency|congenital factor VII deficiency|congenital proconvertin deficiency|factor 7 deficiency|hypoproconvertinemia|F7 deficiency MedDRA:10016079|GARD:0002238|MESH:D005168|DOID:2215|SCTID:37193007|Orphanet:327|OMIM:227500|NCIT:C131631|UMLS:C1394919|ICD10:D68.2 owl:Class MONDO:0044649 biolink:NamedThing omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome tmpte7i6ely_mondo_relaxed.owl Gershoni-Baruch syndrome Orphanet:496693 owl:Class UBERON:0004243 biolink:NamedThing prostate gland smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0106119 biolink:NamedThing negative regulation of sterol biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902107 biolink:NamedThing positive regulation of leukocyte differentiation Any process that activates or increases the frequency, rate or extent of leukocyte differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of immune cell differentiation|up-regulation of leucocyte differentiation|positive regulation of leucocyte differentiation|positive regulation of immune cell differentiation|activation of leukocyte differentiation|up regulation of leukocyte differentiation|upregulation of leucocyte differentiation|upregulation of immune cell differentiation|up regulation of leucocyte differentiation|up-regulation of immune cell differentiation|activation of leucocyte differentiation|activation of immune cell differentiation|up-regulation of leukocyte differentiation|upregulation of leukocyte differentiation owl:Class CHEBI:60895 biolink:NamedThing D-alpha-amino acid anion Any alpha-amino acid anion in which the parent amino acid has D-configuration. tmpte7i6ely_mondo_relaxed.owl D-alpha-amino carboxylate|D-alpha-amino acid anions owl:Class MONDO:0012748 biolink:NamedThing primary ciliary dyskinesia 7 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, type 7|ciliary dyskinesia, primary, 7, with or without situs inversus|primary ciliary dyskinesia 7|primary ciliary dyskinesia caused by mutation in DNAH11|ciliary dyskinesia, primary, 7|primary ciliary dyskinesia 7 with or without situs inversus|DNAH11 primary ciliary dyskinesia|CILD7|primary ciliary dyskinesia type 7 ICD10:Q34.8|MESH:C567504|OMIM:611884|UMLS:C2678473|DOID:0110605 owl:Class UBERON:0006067 biolink:NamedThing musculature of hindlimb zeugopod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013707 biolink:NamedThing intellectual disability, autosomal recessive 24 tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 24|MRT24|mental retardation, autosomal recessive 24 OMIM:614345|UMLS:C3280543 owl:Class MONDO:0005373 biolink:NamedThing meningococcal infection Infections with bacteria of the species neisseria meningitidis. tmpte7i6ely_mondo_relaxed.owl Neisseria meningitidis infection|infections, Neisseria meningitidis|meningococcal disease UMLS:C0025303|ICD9:036.9|GARD:0009547|ICD9:036|MESH:D008589|ICD9:036.89|ICD10:A39|GARD:0007169|SCTID:23511006|EFO:0004249 https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection owl:Class UBERON:0012082 biolink:NamedThing bronchial lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004792 biolink:NamedThing secretion of endocrine pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004795 biolink:NamedThing pancreas secretion tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002191 biolink:NamedThing granulocytopoietic cell A cell involved in the formation of a granulocyte. tmpte7i6ely_mondo_relaxed.owl FMA:83519 tmeehan 2010-08-30T12:54:27Z cell owl:Class UBERON:0000985 biolink:NamedThing axillary vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011020 biolink:NamedThing osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl OOCH|OOCHS|OOCH syndrome|Hernández-Fragoso syndrome|osteoporosis and oculocutaneous hypopigmentation syndrome|osteoporosis oculocutaneous hypopigmentation syndrome OMIM:601220|SCTID:722113001|GARD:0000404|Orphanet:2786|MESH:C536062|UMLS:C1832592 https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome owl:Class MONDO:0004331 biolink:NamedThing bladder urachal adenocarcinoma A adenocarcinoma that involves the urachus. tmpte7i6ely_mondo_relaxed.owl bladder urachal adenocarcinoma|urachal adenocarcinoma|urachus adenocarcinoma|adenocarcinoma of the urachus ONCOTREE:UA|DOID:7694|GARD:0010186|UMLS:C1511204|MESH:C536474|NCIT:C39843 owl:Class MONDO:0011385 biolink:NamedThing intervertebral disc degenerative disorder Any disease of a degenerative nature that affects the intervertebral disc. tmpte7i6ely_mondo_relaxed.owl degenerative disorder of intervertebral disk|vertebral Disc degenerative disorder|vertebral Disc degenerative disease|IDD|intervertebral disk degenerative disorder|intervertebral disc degeneration|intervertebral Disc degenerative disease|intervertebral Disc degenerative disorder|intervertebral disc disease|lumbar disc degeneration|degenerative disc disease|intervertebral Disc Degeneration|vertebral disc disease|cervical disc degenerative disease MESH:D055959|SCTID:77547008|DOID:90|NCIT:C27156|EFO:0004994|UMLS:C0158266|ICD9:722.6|UMLS:C0410606|NCIT:C26983 owl:Class MONDO:0011187 biolink:NamedThing polydactyly, postaxial, type A2 tmpte7i6ely_mondo_relaxed.owl PAPA2|postaxial polydactyly, type A2|polydactyly, postaxial, type A2 Orphanet:93334|UMLS:C1865883|OMIM:602085|MESH:C566585 owl:Class MONDO:0015415 biolink:NamedThing oblique facial cleft tmpte7i6ely_mondo_relaxed.owl Orbitofacial cleft ICD10:Q18.8|Orphanet:141253 owl:Class NCBITaxon:119225 biolink:NamedThing Protomacleaya tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:190765 biolink:NamedThing Ochlerotatus tmpte7i6ely_mondo_relaxed.owl Ochlerotatus PMID:15264635|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012963 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 3 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene. tmpte7i6ely_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, 3|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in ACE|ACE microvascular complications of diabetes, susceptibility|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 3|MVCD3 OMIM:612624 owl:Class UBERON:0008819 biolink:NamedThing inferior mediastinum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020522 biolink:NamedThing Ehlers-Danlos syndrome type 7B tmpte7i6ely_mondo_relaxed.owl EDSARTH2|Ehlers-Danlos syndrome, arthrochalasia type, 2|EDS VIIB|Ehlers-Danlos syndrome, type VIIB, autosomal dominant GTR:AN1112967|ICD10:Q79.6|GTR:AN1112965|GTR:AN1112966|UMLS:C1851801|OMIM:130060|Orphanet:99876|GTR:AN1112503|MESH:C565061|UMLS:CN706304 owl:Class MONDO:0007525 biolink:NamedThing Ehlers-Danlos syndrome, arthrochalasis type Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type VII, autosomal dominant|EDS 7A|EDS 7B|Ehlers-Danlos syndrome, type VII|arthrochalasis multiplex congenita|EDS7A (formerly)|Ehlers-Danlos syndrome type 7A (formerly)|EDS VII, mutant procollagen type|Ehlers-Danlos syndrome type 7|EDS VII|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|AEDS|Ehlers-Danlos syndrome, arthrochalasia type|Ehlers-Danlos syndrome, arthrochalasia type, 1|arthrochalasia EDS|EDSARTH1 GARD:0002084|Orphanet:99875|Orphanet:1899|UMLS:CN200649|SCTID:4170004|ICD10:Q79.6|OMIM:130060|NCIT:C125701|MESH:C562625|Orphanet:99876|UMLS:C1851801 https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome owl:Class GO:0010647 biolink:NamedThing positive regulation of cell communication Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018493 biolink:NamedThing malignant hyperthermia of anesthesia Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. tmpte7i6ely_mondo_relaxed.owl hyperthermia of anesthesia|anesthesia related hyperthermia|malignant hyperpyrexia|malignant hyperthermia of anesthesia|malignant hyperthermia|malignant hyperpyrexia due to anesthesia|malignant hyperthermia syndrome OMIM:600467|ICD10:T88.3|MESH:D008305|ICD9:995.86|MedDRA:10020844|DOID:8545|NCIT:C84869|UMLS:C0024591|OMIM:601888|OMIM:601887|OMIM:154276|OMIM:154275|HP:0002047|OMIMPS:145600|Orphanet:423|OMIM:145600|SCTID:405501007 owl:Class MONDO:0019240 biolink:NamedThing sterol biosynthesis disorder An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl inborn error of sterol biosynthetic process|inborn sterol biosynthetic process disorder|rare inborn error of sterol biosynthetic process UMLS:CN227602|Orphanet:79195 owl:Class MONDO:8000013 biolink:NamedThing portal hypertension, noncirrhotic, 1 tmpte7i6ely_mondo_relaxed.owl portal hypertension, noncirrhotic|NCPH|portal hypertension, noncirrhotic; NCPH OMIM:617068|UMLS:C4310735 owl:Class MONDO:0024193 biolink:NamedThing portal hypertension, noncirrhotic tmpte7i6ely_mondo_relaxed.owl OMIMPS:617068 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:12840 biolink:NamedThing YARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0038065 biolink:NamedThing collagen-activated signaling pathway A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription. tmpte7i6ely_mondo_relaxed.owl collagen-activated signalling pathway owl:Class GO:0007166 biolink:NamedThing cell surface receptor signaling pathway A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. tmpte7i6ely_mondo_relaxed.owl cell surface receptor linked signalling pathway|cell surface receptor linked signaling pathway|cell surface receptor linked signal transduction owl:Class MONDO:0000573 biolink:NamedThing recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. tmpte7i6ely_mondo_relaxed.owl recombinase activating gene 2 deficiency DOID:0060012 owl:Class MONDO:0020519 biolink:NamedThing hand-Schuller-Christian disease A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. tmpte7i6ely_mondo_relaxed.owl chronic multifocal Langerhans cell histiocytosis|hand-SChüller-Christian disease|classic multifocal Langerhans cell histiocytosis|multifocal Unisystem Langerhans cell histiocytosis|multifocal eosinophilic granuloma|hand-Schuller-Christian disease ICD9:277.89|ICDO:9753/1|NCIT:C6920|UMLS:CN207416|SCTID:39795003|Orphanet:99873|ICD10:C96.5 owl:Class MONDO:0017036 biolink:NamedThing Langerhans cell histiocytosis in childhood and adulthood tmpte7i6ely_mondo_relaxed.owl histiocytosis X in childhood and adulthood|Langerhans cell granulomatosis in childhood and adulthood Orphanet:264955 Editor note: check semantics owl:Class MONDO:0017252 biolink:NamedThing congenital pulmonary airway malformation type 4 tmpte7i6ely_mondo_relaxed.owl congenital cystic adenomatoid malformation of the lung type 4|congenital cystic adenomatous malformation of the lung type 4|CPAM type 4 ICD10:Q33.0|Orphanet:280854 owl:Class OBO:CHR_9606-chr4 biolink:NamedThing chromosome 4 (Human) tmpte7i6ely_mondo_relaxed.owl 4 190214555 0 hg38 owl:Class GO:0090317 biolink:NamedThing negative regulation of intracellular protein transport Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051224 biolink:NamedThing negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down-regulation of protein transport|down regulation of protein transport|downregulation of protein transport|inhibition of protein transport owl:Class UBERON:0011139 biolink:NamedThing synovial limb joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014205 biolink:NamedThing severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome tmpte7i6ely_mondo_relaxed.owl BAINBRIDGE-ROPERS syndrome|BRPS|Bainbridge-Roppers syndrome|severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome UMLS:C3809650|Orphanet:352577|ICD10:Q87.0|OMIM:615485 owl:Class GO:0090153 biolink:NamedThing regulation of sphingolipid biosynthetic process Any process that modulates the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044087 biolink:NamedThing regulation of cellular component biogenesis Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4855 biolink:NamedThing HDC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024551 biolink:NamedThing X-linked lymphoproliferative disease due to SH2D1A deficiency A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. tmpte7i6ely_mondo_relaxed.owl EBV infection, Severe, susceptibility to|Xlp|Epstein-Barr Virus infection, familial fatal|Purtilo syndrome|XLP1|X-linked lymphoproliferative disease due to SH2D1A deficiency|Duncan disease|lymphoproliferative disease, X-linked|immunodeficiency 5|infectious mononucleosis, Severe, susceptibility to|lymphoproliferative syndrome, X-linked, 1|immunodeficiency, X-linked progressive combined variable|Lyp UMLS:C0549463|Orphanet:2442|Orphanet:538931|OMIM:308240 owl:Class MONDO:0100218 biolink:NamedThing arthrogryposis multiplex congenita 5 tmpte7i6ely_mondo_relaxed.owl AMC5|ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 OMIM:618947 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0043932 biolink:NamedThing ossification involved in bone remodeling The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. tmpte7i6ely_mondo_relaxed.owl ossification involved in bone remodelling owl:Class MONDO:0017770 biolink:NamedThing Robinow-like syndrome Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl Saal-Greenstein syndrome Orphanet:3105|UMLS:C4302956|SCTID:721905000|UMLS:CN203671|ICD10:Q87.1 owl:Class CL:0009066 biolink:NamedThing stratified squamous epithelial cell of anal canal A stratified squamous epithelial cell that is part of the anal canal. tmpte7i6ely_mondo_relaxed.owl anal canal stratified squamous epithelial cell owl:Class CL:0000240 biolink:NamedThing stratified squamous epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0009433 biolink:NamedThing hypoplastic left heart syndrome 1 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene. tmpte7i6ely_mondo_relaxed.owl hypoplastic left heart syndrome type 1|hypoplastic left heart syndrome caused by mutation in GJA1|hypoplastic left heart syndrome 1|HLHS1|HLHS|GJA1 hypoplastic left heart syndrome OMIM:241550|OMIM:614435|UMLS:CN031062|UMLS:C0152101 owl:Class MONDO:0045019 biolink:NamedThing lactation disease tmpte7i6ely_mondo_relaxed.owl disorder of lactation|lactation disease SCTID:35046003|UMLS:C0022927 owl:Class MONDO:0013902 biolink:NamedThing aortic valve disease 2 Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. tmpte7i6ely_mondo_relaxed.owl aortic valve disease 2|SMAD6 aortic valve disease|bicuspid aortic valve|AOVD2|aortic valve disease type 2|aortic valve disease caused by mutation in SMAD6|aortic valve stenosis DOID:0080334|Orphanet:402075|UMLS:C3542024|OMIM:614823 owl:Class UBERON:0012373 biolink:NamedThing sympathetic nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001816 biolink:NamedThing autonomic nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018697 biolink:NamedThing 1p35.2 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl Del(1)(p35.2)|deletion 1p35.2|monosomy 1p35.2 Orphanet:456298|ICD10:Q93.5|UMLS:CN237766 owl:Class UBERON:0002362 biolink:NamedThing arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012744 biolink:NamedThing dilated cardiomyopathy 1Y Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1Y|left ventricular noncompaction 9|familial isolated dilated cardiomyopathy caused by mutation in TPM1|CMD1Y|dilated cardiomyopathy type 1Y|TPM1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Y MESH:C567507|DOID:0110457|OMIM:611878|Orphanet:54260|ICD10:I42.0 owl:Class MONDO:0016442 biolink:NamedThing elastoma tmpte7i6ely_mondo_relaxed.owl Nevus elasticus|Weidman juvenile elastoma|juvenile elastoma without osteopoikilosis ICD9:215.9|SCTID:239140003|Orphanet:228254|UMLS:C0473583 owl:Class CHEBI:36685 biolink:NamedThing chlorocarboxylic acid A carboxylic acid containing at least one chloro group. tmpte7i6ely_mondo_relaxed.owl chlorocarboxylic acids owl:Class MONDO:0016811 biolink:NamedThing renal tubulopathy-encephalopathy-liver failure syndrome Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders. tmpte7i6ely_mondo_relaxed.owl Orphanet:254902|OMIM:124000|UMLS:CN202065|ICD10:E88.8 owl:Class MONDO:0007415 biolink:NamedThing mitochondrial complex III deficiency nuclear type 1 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in BCS1L|mitochondrial complex III deficiency, nuclear type 1|mitochondrial complex III deficiency|MC3DN1|mitochondrial Complex 3 deficiency, nuclear type 1|BCS1L mitochondrial complex III deficiency|Complex 3 mitochondrial respiratory chain deficiency Orphanet:1460|OMIM:124000|Orphanet:254902|MESH:C565128|DOID:0080111|GARD:0008295 https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency owl:Class HGNC:9155 biolink:NamedThing PNLIP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009922 biolink:NamedThing Pseudouridinuria and mental defect tmpte7i6ely_mondo_relaxed.owl Pseudouridinuria and mental defect MESH:C564864|UMLS:C1849648|OMIM:264500 owl:Class MONDO:0010072 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive Autosomal recessive form of spondyloepiphyseal dysplasia tarda. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda, autosomal recessive|autosomal recessive spondyloepiphyseal dysplasia tarda UMLS:C1849054|Orphanet:93284|MESH:C564797|OMIM:271600 owl:Class MONDO:0030855 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 tmpte7i6ely_mondo_relaxed.owl OIEDS2|OIEDS Syndrome 2|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 OMIM:619120 owl:Class MONDO:0016470 biolink:NamedThing Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. tmpte7i6ely_mondo_relaxed.owl EDS/OI syndrome UMLS:CN201460|MESH:C565178|Orphanet:230857|OMIMPS:619115|ICD10:Q79.6 owl:Class MONDO:0020133 biolink:NamedThing posterior fossa malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98519 owl:Class MONDO:0004132 biolink:NamedThing anal canal squamous cell carcinoma A squamous cell carcinoma arising from the mucosa of the anal canal. tmpte7i6ely_mondo_relaxed.owl anal canal squamous cell carcinoma|squamous cell carcinoma of the anal canal NCIT:C7469|UMLS:C1332262|DOID:7177|Orphanet:424019|ICD10:C21.1 owl:Class GO:1904410 biolink:NamedThing negative regulation of secretory granule organization Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. tmpte7i6ely_mondo_relaxed.owl inhibition of secretory granule organization|negative regulation of secretory granule organisation|downregulation of secretory granule organization and biogenesis|downregulation of secretory granule organization|down regulation of secretory granule organization and biogenesis|down regulation of secretory granule organisation|negative regulation of secretory granule organization and biogenesis|inhibition of secretory granule organisation|downregulation of secretory granule organisation|down-regulation of secretory granule organization and biogenesis|down-regulation of secretory granule organization|inhibition of secretory granule organization and biogenesis|down-regulation of secretory granule organisation|down regulation of secretory granule organization owl:Class NCBITaxon:504568 biolink:NamedThing Salmoninae tmpte7i6ely_mondo_relaxed.owl trouts, salmons & chars GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8015 biolink:NamedThing Salmonidae tmpte7i6ely_mondo_relaxed.owl salmonids PMID:15062801|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021538 biolink:NamedThing verrucous carcinoma of oral cavity A verrucous carcinoma that involves the oral cavity. tmpte7i6ely_mondo_relaxed.owl verrucous carcinoma of mouth|verrucous carcinoma of the mouth|oral cavity verrucous cancer|verrucous carcinoma of the oral cavity|mouth verrucous carcinoma|oral cavity verrucous carcinoma NCIT:C8174|SCTID:403889000|UMLS:C0280306 owl:Class MONDO:0019635 biolink:NamedThing idiopathic achalasia A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. tmpte7i6ely_mondo_relaxed.owl achalasia cardia|primary achalasia|idiopathic achalasia of esophagus Orphanet:930|UMLS:C0014848|MedDRA:10036669|GARD:0005708|ICD10:K22.0|OMIM:200400|UMLS:C0859976|UMLS:C1860213|SCTID:715192004 https://github.com/monarch-initiative/mondo/issues/4055 owl:Class MONDO:0024627 biolink:NamedThing phagocytic cell dysfunction tmpte7i6ely_mondo_relaxed.owl phagocytic cell dysfunction|defective phagocytosis SCTID:302874002|UMLS:C0398732 owl:Class MONDO:0013342 biolink:NamedThing hereditary spastic paraplegia 48 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. tmpte7i6ely_mondo_relaxed.owl SPG48|hereditary spastic paraplegia caused by mutation in AP5Z1|autosomal recessive spastic paraplegia type 48|hereditary spastic paraplegia type 48|autosomal recessive spastic paraplegia 48|AP5Z1 hereditary spastic paraplegia|spastic paraplegia 48, autosomal recessive SCTID:763367009|UMLS:C3150901|ICD10:G11.4|OMIM:613647|Orphanet:306511|DOID:0110800 owl:Class MONDO:0013219 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 2 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene. tmpte7i6ely_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive, type 2|ENPP1 autosomal recessive hypophosphatemic rickets|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|hypophosphatemic rickets, autosomal recessive, 2|ARHR2 Orphanet:289176|MESH:C567647|UMLS:C2750078|OMIM:613312 owl:Class MONDO:0017324 biolink:NamedThing autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. tmpte7i6ely_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive|autosomal recessive hereditary hypophosphatemic rickets|hereditary hypophosphatemic rickets, autosomal recessive|ARHR SCTID:90505000|ICD10:E83.3|DOID:0050949|UMLS:CN202957|OMIM:613312|Orphanet:289176|OMIM:241520 owl:Class HGNC:8858 biolink:NamedThing PEX3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000199 biolink:NamedThing neck of radius tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011077 biolink:NamedThing microcephaly, corpus callosum dysgenesis, and cleft lip/palate tmpte7i6ely_mondo_relaxed.owl corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation|microcephaly, facial clefting, and preaxial polydactyly|microcephaly, corpus callosum dysgenesis, and cleft lip/palate|microcephaly, corpus callosum dysgenesis and cleft lip-palate MESH:C537547|UMLS:C1832369|OMIM:601420|GARD:0003614 https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate owl:Class UBERON:0003502 biolink:NamedThing neck blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007642 biolink:NamedThing isolated agenesis of gallbladder tmpte7i6ely_mondo_relaxed.owl gallbladder, agenesis OF OMIM:137040|MESH:C562564|ICD10:Q44.0|Orphanet:440987 owl:Class NCBITaxon:1930602 biolink:NamedThing Psocodea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33342 biolink:NamedThing Paraneoptera tmpte7i6ely_mondo_relaxed.owl Hemipteroidea|hemipteroid assemblage GC_ID:1 ncbi_taxonomy owl:Class GO:0033119 biolink:NamedThing negative regulation of RNA splicing Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005856 biolink:NamedThing Mononegavirales infectious disease Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections. tmpte7i6ely_mondo_relaxed.owl Mononegavirales disease or disorder|Mononegavirales caused disease or disorder MESH:D018701|EFO:0007376|UMLS:C0242916 owl:Class MONDO:0005037 biolink:NamedThing gastric intestinal type adenocarcinoma An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated. tmpte7i6ely_mondo_relaxed.owl intestinal adenocarcinoma of the stomach|gastric intestinal-type adenocarcinoma|intestinal type stomach adenocarcinoma|gastric intestinal type adenocarcinoma|intestinal gastric adenocarcinoma|intestinal adenocarcinoma of stomach|intestinal stomach adenocarcinoma UMLS:C0279633|NCIT:C9157|EFO:0000504|ONCOTREE:ISTAD owl:Class MONDO:0012899 biolink:NamedThing alopecia, androgenetic, 3 tmpte7i6ely_mondo_relaxed.owl AGA3|alopecia, androgenetic, 3 OMIM:612421|MESH:C567317|UMLS:C2676272 owl:Class MONDO:0000005 biolink:NamedThing alopecia, isolated tmpte7i6ely_mondo_relaxed.owl OMIMPS:203655 owl:Class MONDO:0030939 biolink:NamedThing premature ovarian failure 18 tmpte7i6ely_mondo_relaxed.owl premature ovarian failure 18|POF18 OMIM:619203 owl:Class MONDO:0010950 biolink:NamedThing type 1 diabetes mellitus 8 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 8|insulin-dependent diabetes mellitus 8|IDDM8 MESH:C563433|DOID:0110747|ICD10:E10|UMLS:C1833218|OMIM:600883 owl:Class MONDO:0000188 biolink:NamedThing GLUT1 deficiency syndrome tmpte7i6ely_mondo_relaxed.owl GLUT1DS|GLUT1 deficiency syndrome OMIMPS:606777 Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1 owl:Class MONDO:0015055 biolink:NamedThing acquired angioedema type 2 Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpte7i6ely_mondo_relaxed.owl AAE II|AAE 2|acquired angioneurotic edema type 2 ICD10:T78.3|UMLS:CN197347|Orphanet:100055 owl:Class MONDO:0030528 biolink:NamedThing immunodeficiency 93 and hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl IMD93 OMIM:619705 owl:Class OBO:CHR_9606-chr1p35 biolink:NamedThing 1p35 (Human) tmpte7i6ely_mondo_relaxed.owl 34300000 27600000 hg38 owl:Class HGNC:12310 biolink:NamedThing TRIP4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006239 biolink:NamedThing future central tendon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017420 biolink:NamedThing intercalary limb defects tmpte7i6ely_mondo_relaxed.owl intercalary meromelia Orphanet:294927 owl:Class MONDO:0016185 biolink:NamedThing qualitative or quantitative defects of protein O-mannosyltransferase 2 tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of protein O-mannosyltransferase type 2 Orphanet:209033 owl:Class MONDO:0700004 biolink:NamedThing idiopathic vs non-idiopathic A disease characteristic in which the cause of the disease is known or unknown. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0013819 biolink:NamedThing intellectual disability, autosomal dominant 14 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene. tmpte7i6ely_mondo_relaxed.owl MRD14|ARID1A Coffin-Siris syndrome|Coffin-Siris syndrome 2|autosomal dominant mental retardation 14|CSS2|intellectual disability, autosomal dominant type 14|mental retardation, autosomal dominant type 14|Coffin-Siris syndrome caused by mutation in ARID1A|intellectual disability, autosomal dominant 14|mental retardation, autosomal dominant 14|COFFIN-SIRIS syndrome 2|ARID1A-related BAFopathy|autosomal dominant intellectual disability 14 UMLS:C3553247|DOID:0070044|OMIM:614607|Orphanet:1465 owl:Class GO:0099081 biolink:NamedThing supramolecular polymer A polymeric supramolecular structure. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099080 biolink:NamedThing supramolecular complex A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003168 biolink:NamedThing cerebellar pilocytic astrocytoma A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis. tmpte7i6ely_mondo_relaxed.owl cerebellar pilocytic astrocytoma|pilocytic astrocytoma of the cerebellum|cerebellum pilocytic astrocytoma|pilocytic astrocytoma of cerebellum UMLS:C0349620|DOID:4853|SCTID:277507004|NCIT:C6809 owl:Class MONDO:0100386 biolink:NamedThing acute myeloid leukemia, t(v;11q23.3) Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.) tmpte7i6ely_mondo_relaxed.owl AML, t(v;11q23.3)|AML, t(11;v)(q23.3;v)|AML, t(V;11)(v;q23.3)|AML, 11q23.3 Translocation|AML, t(V;11)(v;q23)|AML, t(11;v)(q23;v) NCIT:C36517 owl:Class UBERON:0003609 biolink:NamedThing aorta elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003614 biolink:NamedThing blood vessel elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014306 biolink:NamedThing vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. tmpte7i6ely_mondo_relaxed.owl adenosine deaminase 2 deficiency|childhood-onset polyarteritis nodosa|ADA2 deficiency|vasculitis due to DADA2|PAN|polyarteritis nodosa, childhood-onset|DADA2 Orphanet:404553|GARD:0012383|ICD10:M30.8|OMIM:615688 owl:Class MONDO:0010767 biolink:NamedThing spermatogenic failure, Y-linked, 2 tmpte7i6ely_mondo_relaxed.owl azoospermia, nonobstructive, Y-linked|spermatogenic failure, Y-linked, type 2|SPGFY2|Azf regions|oligozoospermia, nonobstructive, Y-linked|azoospermia Factor regions|spermatogenic failure, nonobstructive, Y-linked|oligospermia, nonobstructive, Y-linked|spermatogenic failure, Y-linked, 2|spermatogenic arrest, Y-linked DOID:0070187|MESH:C564030|Orphanet:1646|OMIM:415000 owl:Class MONDO:0015852 biolink:NamedThing excess breast volume or number tmpte7i6ely_mondo_relaxed.owl Orphanet:180170 owl:Class MONDO:0022736 biolink:NamedThing occupational lung disease tmpte7i6ely_mondo_relaxed.owl Occupational lung disease|Occupational pulmonary disease|Occupational lung disorder|Occupational inhalation disease|Occupational respiratory disease ICD9:508.9|SCTID:86157004|UMLS:C0264421|GARD:0012752 owl:Class MONDO:0100366 biolink:NamedThing occupational disorder Any disorder that is realized in response to an exposure to occupation. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3061 owl:Class UBERON:0013509 biolink:NamedThing lumbar vertebra cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015009 biolink:NamedThing lumbar vertebra endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013182 biolink:NamedThing chromosome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. tmpte7i6ely_mondo_relaxed.owl 17p13.3 microduplication syndrome|chromosome 17p13.3, centromeric, DUPLICATION syndrome|chromosome 17p13.3 centromeric duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3|17p13.3 duplication syndrome DOID:0060432|ICD10:Q92.3|Orphanet:217385|OMIM:613215|MESH:C567705|UMLS:C4304641|UMLS:C2750748|SCTID:719582007 owl:Class OBO:CHR_9606-chr12p1 biolink:NamedThing 12p1 (Human) tmpte7i6ely_mondo_relaxed.owl 35500000 0 hg38 owl:Class MONDO:0002736 biolink:NamedThing ampulla of vater mucinous adenocarcinoma A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation. tmpte7i6ely_mondo_relaxed.owl hepatopancreatic ampulla mucinous adenocarcinoma|ampulla of Vater mucinous adenocarcinoma NCIT:C27416|DOID:3693|UMLS:C1332248 owl:Class MONDO:0005535 biolink:NamedThing oral Crohn disease Crohn's disease affecting the mouth. tmpte7i6ely_mondo_relaxed.owl oral Crohn's disease UMLS:C0399497|SCTID:196578009|EFO:0005625 owl:Class MONDO:0013937 biolink:NamedThing peroxisome biogenesis disorder 6B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 6B|peroxisome biogenesis disorder type 6B|PBD6B Orphanet:44|UMLS:C3553948|OMIM:614871|Orphanet:772|NCIT:C155759 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0060537 biolink:NamedThing muscle tissue development The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021812 biolink:NamedThing adnexal spiradenoma/cylindroma of a sweat gland A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. tmpte7i6ely_mondo_relaxed.owl cylindroma|cylindroma of skin|dermal cylindroma|adnexal sweat gland spiradenoma/cylindroma|cylindroma of the skin ICDO:8200/0|GARD:0008641|NCIT:C27094|SCTID:274903001 Editor note: See GARD:0010464 https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland owl:Class MONDO:0021489 biolink:NamedThing benign neoplasm of sweat gland A benign neoplasm that involves the sweat gland. tmpte7i6ely_mondo_relaxed.owl sweat gland benign neoplasm|benign sweat gland neoplasm|benign neoplasm of the sweat gland|benign tumor of the sweat gland|benign tumor of sweat gland|benign sweat gland tumor|sweat gland neoplasm, benign SCTID:92422009|UMLS:C0684354|NCIT:C4879 owl:Class MONDO:0019920 biolink:NamedThing paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpte7i6ely_mondo_relaxed.owl UPD(5)pat|paternal uniparental disomy of chromosome type 5 Orphanet:96190|ICD10:Q99.8 owl:Class MONDO:0004995 biolink:NamedThing cardiovascular disorder A disease involving the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl cardiovascular system disease or disorder|disease of subdivision of hemolymphoid system|cardiovascular system disease|cardiovascular disease (CVD)|disorder of cardiovascular system|disease or disorder of cardiovascular system|disease of cardiovascular system|cardiovascular disorder|circulatory system disease|cardiovascular disease ICD9:429.2|ICD9:424|ICD9:429.7|ICD9:459.9|ICD9:459.89|MESH:D002318|NCIT:C2931|DOID:1287|UMLS:C0007222|ICD9:423.8|SCTID:49601007|ICD9:429.89|ICD10:I00.I99|ICD9:429.81|ICD9:423|ICD9:420-429.99|ICD9:390-459.99|ICD9:429.8|ICD9:429|EFO:0000319 owl:Class GO:0045576 biolink:NamedThing mast cell activation The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002274 biolink:NamedThing myeloid leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpte7i6ely_mondo_relaxed.owl myeloid leucocyte activation owl:Class MONDO:0011493 biolink:NamedThing Stickler syndrome type 2 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). tmpte7i6ely_mondo_relaxed.owl STL 2|Stickler syndrome, vitreous type 2|COL11A1 Stickler syndrome|Stickler syndrome type II|Stickler syndrome, beaded vitreous type|STL2|Stickler syndrome, type 2|Stickler syndrome caused by mutation in COL11A1|STICKLER syndrome, type II MESH:C537493|GARD:0005020|ICD10:Q87.5|Orphanet:828|UMLS:C1858084|OMIM:604841|NCIT:C74985|Orphanet:90654 https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 owl:Class GO:0090275 biolink:NamedThing negative regulation of somatostatin secretion Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0090273 biolink:NamedThing regulation of somatostatin secretion Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0005026 biolink:NamedThing hepatoblast Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006727 biolink:NamedThing diastolic heart failure Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling. tmpte7i6ely_mondo_relaxed.owl ICD9:428.3|ICD10:I50.3|ICD10:I50.30|EFO:1000899|MESH:D054144|SCTID:418304008|UMLS:C1135196|DOID:9775|MedDRA:10069211|ICD9:428.30 owl:Class MONDO:0005009 biolink:NamedThing congestive heart failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. tmpte7i6ely_mondo_relaxed.owl congestive heart disease|weak heart|heart failure, congestive|failure, congestive heart|cardiac failure, congestive|CHF ICD10:I50.9|NCIT:C50577|DOID:6000|ICD9:404.13|ICD9:428.0|ICD9:428|NCIT:C3080|UMLS:C0018802|SCTID:84114007|ICD9:404.01|ICD9:404.11|ICD10:I50.0|MESH:D006333|EFO:0000373|SCTID:42343007|ICD10:I50|ICD9:428.9 owl:Class GO:0002690 biolink:NamedThing positive regulation of leukocyte chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. tmpte7i6ely_mondo_relaxed.owl up-regulation of leukocyte chemotaxis|activation of leukocyte chemotaxis|upregulation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis|positive regulation of leucocyte chemotaxis|up regulation of leukocyte chemotaxis|positive regulation of immune cell chemotaxis owl:Class MONDO:0006418 biolink:NamedThing small intestinal enteropathy-associated T-cell lymphoma An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate. tmpte7i6ely_mondo_relaxed.owl small intestine enteropathy-associated T-cell lymphoma|small intestinal enteropathy-type T-cell lymphoma|small intestinal EATL|enteropathy-associated T-cell lymphoma of small intestine NCIT:C39610|UMLS:C1519371|EFO:1000535 owl:Class MONDO:0000621 biolink:NamedThing immune system cancer A malignant neoplasm involving the immune system tmpte7i6ely_mondo_relaxed.owl cancer of immune system|immune system cancer|malignant immune system neoplasm|malignant neoplasm of immune system DOID:0060083 owl:Class MONDO:0006167 biolink:NamedThing combined lung carcinoma A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl combined carcinoma of the lung|combined carcinoma of lung|combined lung carcinoma|combined lung cancer EFO:1000200|NCIT:C7591|UMLS:C1333123 owl:Class MONDO:0020343 biolink:NamedThing alpha-crystallinopathy tmpte7i6ely_mondo_relaxed.owl CRYAB-related myofobrillar myopathy ICD10:G71.8|Orphanet:98910 owl:Class UBERON:0004274 biolink:NamedThing lateral ventricle choroid plexus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019982 biolink:NamedThing bilateral multicystic dysplastic kidney Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. tmpte7i6ely_mondo_relaxed.owl bilateral multicystic renal dysplasia|MRD|PUJO|bilateral MCDK|Pelvi-ureteric junction obstruction ICD10:Q61.4|GARD:0009517|SCTID:717749002|MESH:D021782|Orphanet:97364 owl:Class MONDO:0015988 biolink:NamedThing multicystic dysplastic kidney Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. tmpte7i6ely_mondo_relaxed.owl MCDK|multicystic renal dysplasia UMLS:C3714581|ICD10:Q61.4|Orphanet:1851|ICD9:753.19|NCIT:C123031|MESH:D021782|SCTID:204962002 owl:Class NBO:0000751 biolink:NamedThing perception behavior by means tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000308 biolink:NamedThing sensation behavior "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl perception behavior|behavior involving perception owl:Class MONDO:0003780 biolink:NamedThing T-cell immunodeficiency A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. tmpte7i6ely_mondo_relaxed.owl T-cell immunodeficiency|T-lymphocyte immunodeficiency|T lymphocyte deficiency|T-lymphocyte deficiency (finding) SCTID:402792003|DOID:613|UMLS:C1274233|NCIT:C27145 owl:Class MONDO:0006317 biolink:NamedThing neurothekeoma A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma. tmpte7i6ely_mondo_relaxed.owl nerve sheath Myxoma|neurothekeoma EFO:1000394|MESH:D018321|NCIT:C7018|UMLS:C0206730|ICDO:9562/0 owl:Class MONDO:0008050 biolink:NamedThing MYH7-related skeletal myopathy Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. tmpte7i6ely_mondo_relaxed.owl Laing early-onset distal myopathy|MYH7-related skeletal myopathy|myopathy, late distal hereditary|distal myopathy type 1|myopathy, distal, type 1|myopathy, distal, early-onset, autosomal dominant|Gowers disease|myosin storage myopathy|myopathy distal, type 1|myopathy, distal, 1|MPD1|Laing distal myopathy DOID:0070197|OMIM:160500|ICD10:G71.0|GARD:0010769|UMLS:CN074249|Orphanet:59135|SCTID:764859001 owl:Class CHEBI:36688 biolink:NamedThing heterotricyclic compound tmpte7i6ely_mondo_relaxed.owl heterotricyclic compound|heterotricyclic compounds owl:Class MONDO:0001404 biolink:NamedThing ecthyma An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl SCTID:85791004|EFO:1000689|MESH:D004473|UMLS:C0013568|DOID:11907|ICD9:686.8 owl:Class MONDO:0004769 biolink:NamedThing orbital plasma cell granuloma A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis). tmpte7i6ely_mondo_relaxed.owl orbital inflammatory pseudotumors|plasma cell granuloma, orbital|inflammatory pseudotumor of orbit|orbital granuloma, plasma cell|granuloma, plasma cell, orbital|pseudotumor, orbital inflammatory|inflammatory pseudotumors, orbital|orbital myositis|pseudotumors, orbital|pseudotumor, orbital|pseudotumor, inflammatory, orbital|orbital inflammatory pseudotumor|pseudotumor of orbit|orbital pseudotumors|inflammatory pseudotumor, orbital SCTID:72789009|DOID:9369|MESH:D016727|NCIT:C117296|ICD10:H05.11|ICD9:376.12|SCTID:80698001 Editor note: check relationship to orbotral granuloma owl:Class GO:0048880 biolink:NamedThing sensory system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002671 biolink:NamedThing signet ring cell breast carcinoma An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance. tmpte7i6ely_mondo_relaxed.owl SRC carcinoma of the breast|signet ring cell carcinoma of breast|primary SRC carcinoma of the breast|primary SRC carcinoma of breast|primary signet Ring cell carcinoma of breast|breast carcinoma with signet ring|mammary signet Ring cell carcinoma|SRC breast carcinoma|breast signet ring cell adenocarcinoma|signet Ring cell carcinoma of the breast|breast signet ring cell carcinoma|primary SRC breast carcinoma|primary signet Ring cell breast carcinoma|SRC carcinoma of breast|signet Ring cell breast carcinoma|primary signet Ring cell carcinoma of the breast|signet Ring cell carcinoma of breast|primary mammary signet Ring cell carcinoma UMLS:C1335964|NCIT:C5175|DOID:3503|ONCOTREE:BRSRCC owl:Class MONDO:0033483 biolink:NamedThing erythrocytosis, familial, 5 Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene. tmpte7i6ely_mondo_relaxed.owl familial erythrocytosis 5|EPO familial polycythemia|familial polycythemia caused by mutation in EPO|ECYT5|erythrocytosis, familial, 5 UMLS:CN873435|DOID:0080290|OMIM:617907 owl:Class GO:0045168 biolink:NamedThing cell-cell signaling involved in cell fate commitment Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. tmpte7i6ely_mondo_relaxed.owl cell-cell signaling during in cell fate commitment|cell-cell signalling during cell fate commitment|cell-cell signaling resulting in cell fate commitment|cell-cell signalling involved in cell fate specification|cell-cell signalling resulting in cell fate commitment|cell fate commitment, cell-cell signaling|cell fate commitment, cell-cell signalling owl:Class MONDO:0010893 biolink:NamedThing malignant hyperthermia, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl malignant hyperthermia, susceptibility to, type 4|malignant hyperpyrexia susceptibility type 4|MHS4|malignant hyperthermia, susceptibility to, 4|Mhs4|malignant hyperthermia susceptibility type 4 Orphanet:423|OMIM:600467|GARD:0003366|MESH:C535697 https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 owl:Class MONDO:0008404 biolink:NamedThing scalp-ear-nipple syndrome Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Finlay-Marks syndrome|Sen syndrome|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|scalp ear nipple syndrome|scalp-EAR-nipple syndrome|SENS|scalp-ear-nipple syndrome ICD10:Q87.8|MESH:C536623|Orphanet:2036|DOID:0111550|SCTID:721888002|OMIM:181270|GARD:0000159 owl:Class GO:0046850 biolink:NamedThing regulation of bone remodeling Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0032973 biolink:NamedThing Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. tmpte7i6ely_mondo_relaxed.owl Red blood cells in the BAL fluid are noted (e.g. present in pulmonary hemorrhage syndromes), but not counted, Similarly epithelial cells are only noted, not included numerically into cell differential. peter human_phenotype owl:Class MONDO:0008403 biolink:NamedThing scalp defects-postaxial polydactyly syndrome Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A. tmpte7i6ely_mondo_relaxed.owl scalp defects and postaxial polydactyly|congenital scalp defects associated with postaxial polydactyly|scalp defects postaxial polydactyly GARD:0000241|OMIM:181250|Orphanet:1003|ICD10:Q87.2|UMLS:C1867021|MESH:C536622 owl:Class CHEBI:33282 biolink:NamedThing antibacterial agent A substance (or active part thereof) that kills or slows the growth of bacteria. tmpte7i6ely_mondo_relaxed.owl bactericide|antibacterials|bactericides|antibacterial agents owl:Class NCBITaxon:137207 biolink:NamedThing Oligoryzomys longicaudatus tmpte7i6ely_mondo_relaxed.owl Oligoryzomys longicaudus GC_ID:1 NCBITaxon:29121 ncbi_taxonomy owl:Class NCBITaxon:29120 biolink:NamedThing Oligoryzomys tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0009473 biolink:NamedThing Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. tmpte7i6ely_mondo_relaxed.owl Contractures of the hands|Contractures involving the hands UMLS:C0158113|MEDDRA:10010821|SNOMEDCT_US:86414002 doelkens 2009-01-15T09:59:59Z HP:0006255|HP:0009472|HP:0009409|HP:0001237|HP:0010563|HP:0006215|HP:0005814|HP:0006096|HP:0001160|HP:0006173|HP:0004094|HP:0006238 human_phenotype owl:Class MONDO:0006700 biolink:NamedThing choroid cancer A malignant neoplasm involving the optic choroid. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the choroid|malignant choroid neoplasm|optic choroid cancer|malignant optic choroid neoplasm|choroidal tumor|malignant neoplasm of choroid|cancer of optic choroid|malignant neoplasm of the choroid|choroid neoplasm|malignant tumor of choroid|malignant neoplasm of optic choroid|malignant choroid tumor ICD10:C69.3|EFO:1000866|DOID:12759|MESH:D002830|ICD9:190.6|MedDRA:10057405|SCTID:363466008|NCIT:C3566|NCIT:C2949 owl:Class MONDO:0004426 biolink:NamedThing frontal convexity meningioma A meningioma that affects the frontal sulcus. tmpte7i6ely_mondo_relaxed.owl UMLS:C1333643|NCIT:C5292|DOID:8000 owl:Class MONDO:0003774 biolink:NamedThing cerebral convexity meningioma A meningioma that affects the cerebral sulcus. tmpte7i6ely_mondo_relaxed.owl cerebral hemispheric convexity meningioma MESH:D008579|UMLS:C0751303|NCIT:C4959|DOID:6114 owl:Class HP:0010935 biolink:NamedThing Abnormality of the upper urinary tract An abnormality of the upper urinary tract. tmpte7i6ely_mondo_relaxed.owl Abnormality of the upper urinary tract UMLS:C4023641 The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. peter 2011-01-16T11:37:29Z human_phenotype owl:Class MONDO:0006734 biolink:NamedThing benign duodenal neoplasm A non-metastasizing neoplasm arising from the wall of the duodenum. tmpte7i6ely_mondo_relaxed.owl benign tumor of the duodenum|benign duodenal neoplasm|benign duodenal tumor|benign neoplasm of duodenum|benign neoplasm of the duodenum|benign tumor of duodenum|duodenum benign neoplasm|neoplasm of the duodenum|duodenal benign neoplasm MedDRA:10004251|SCTID:126833009|EFO:1000907|SCTID:92080005|NCIT:C4775|DOID:1737|MESH:D004379|NCIT:C2995 MONDO:0021504 owl:Class MONDO:0021375 biolink:NamedThing tumor of duodenum A neoplasm (disease) that involves the duodenum. tmpte7i6ely_mondo_relaxed.owl neoplasm of duodenum|duodenum tumor|tumor of duodenum|neoplasm of the duodenum|tumor of the duodenum|duodenum neoplasm (disease)|duodenum neoplasm|duodenal neoplasm|duodenal tumor NCIT:C2995|SCTID:126833009 owl:Class FOODON:03411222 biolink:NamedThing fish Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic ("cold-blooded"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004533 biolink:NamedThing perineural angioma A hemangioma arising from perineural tissues. tmpte7i6ely_mondo_relaxed.owl perineural hemangioma DOID:8331|UMLS:C1335382|NCIT:C6526 owl:Class MONDO:0002260 biolink:NamedThing hidradenitis An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. tmpte7i6ely_mondo_relaxed.owl apocrine sweat gland inflammation|Hydradenitis|apocrine sweat gland|inflammation of apocrine sweat gland UMLS:C0085160|MESH:D016575|SCTID:69741000|DOID:2282|ICD9:705.83|NCIT:C112190|NCIT:C32132 owl:Class MONDO:0018776 biolink:NamedThing demyelinating hereditary motor and sensory neuropathy tmpte7i6ely_mondo_relaxed.owl demyelinating hereditary motor and sensory neuropathy|demyelinating HMSN Orphanet:476116 owl:Class MONDO:0005278 biolink:NamedThing serous adenocarcinoma An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl serous cystadenocarcinoma|serous adenocarcinoma|serous carcinoma|serous cystadenocarcinoma, NOS (morphologic abnormality) EFO:0003825|DOID:3114|NCIT:C3778|NCIT:C40101|UMLS:C0206701 owl:Class MONDO:0060622 biolink:NamedThing neurodevelopmental disorder with severe motor impairment and absent language tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with severe motor impairment and absent language|NEDMIAL OMIM:617804|UMLS:C4540496 owl:Class MONDO:0016171 biolink:NamedThing polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies tmpte7i6ely_mondo_relaxed.owl Orphanet:208981|ICD10:G61.8 owl:Class PATO:0000984 biolink:NamedThing porous A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000973 biolink:NamedThing porosity A structure quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003447 biolink:NamedThing clear cell hidradenoma An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells. tmpte7i6ely_mondo_relaxed.owl clear cell hidradenoma|clear cell myoepithelioma|clear cell hidradenoma (morphologic abnormality) UMLS:C1370701|DOID:5443|NCIT:C7567 owl:Class GO:0019363 biolink:NamedThing pyridine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. tmpte7i6ely_mondo_relaxed.owl pyridine nucleotide anabolism|pyridine nucleotide biosynthesis|pyridine nucleotide formation|pyridine nucleotide synthesis owl:Class GO:0019362 biolink:NamedThing pyridine nucleotide metabolic process The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. tmpte7i6ely_mondo_relaxed.owl pyridine nucleotide metabolism owl:Class UBERON:0035814 biolink:NamedThing pericardial fat tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024301 biolink:NamedThing acquired mineral metabolism disease An instance of mineral metabolism disease that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl mineral metabolism disease|acquired mineral metabolism disease DOID:0050032 owl:Class MONDO:0020800 biolink:NamedThing demyelinating disease of central nervous system Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system. tmpte7i6ely_mondo_relaxed.owl demyelinating cns disease|demyelinating disorder of central nervous system|Demyelinating disease central nervous system (CNS)|Demyelinating Disorder of Central Nervous System|Demyelinating disorders of the central nervous system|Demyelinating disease of central nervous system|demyelinating disease central nervous system (cns)|Demyelinating CNS disease|demyelinating disease of central nervous system|Demyelinating Disease of Central Nervous System|demyelinating disorders of the central nervous system ICD9:341.8|ICD9:341.9|NCIT:C34526|UMLS:C0011302|GARD:0012052|SCTID:6118003 Editor note: see: https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44 owl:Class MONDO:0002562 biolink:NamedThing demyelinating disease A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. tmpte7i6ely_mondo_relaxed.owl demyelinating disorder ICD10:G35.G37|DOID:3213|NCIT:C34527|UMLS:C0011303|MESH:D003711 owl:Class MONDO:0030491 biolink:NamedThing immunodeficiency 91 and hyperinflammation tmpte7i6ely_mondo_relaxed.owl IMD91 OMIM:619644 owl:Class MONDO:0005592 biolink:NamedThing smooth surface dental caries tmpte7i6ely_mondo_relaxed.owl EFO:0006339|ICD9:521.07 owl:Class MONDO:0001066 biolink:NamedThing late yaws Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. tmpte7i6ely_mondo_relaxed.owl gummata and ulcers due to yaws|gummatous frambeside|gummata of yaws|multiple papillomata due to yaws and wet crab yaws|yaws gummata and ulcers|nodular late yaws|ulcers of yaws NCIT:C41354|DOID:10567|UMLS:C1517744|SCTID:186968004|ICD9:102.1|ICD10:A66.1|ICD10:A66.4|UMLS:C0276007|ICD9:102.4 owl:Class MONDO:0006019 biolink:NamedThing yaws An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. tmpte7i6ely_mondo_relaxed.owl Treponema pallidum subsp. pertenue infectious disease|endemic treponematoses|thymosis|frambesia tropica|Treponema pertenue infection|Bouba|frambesia|Treponema pallidum subsp. pertenue disease or disorder|Treponema pallidum subsp. pertenue caused disease or disorder|frambosie|polypapilloma tropicum MESH:D015001|ICD10:A66|ICD9:102.9|DOID:10371|ICD9:102|SCTID:70647001|UMLS:C0043388|ICD10:A66.9|NCIT:C41353|GARD:0007913|ICD9:102.7|EFO:0007548 https://rarediseases.info.nih.gov/diseases/7913/yaws owl:Class MONDO:0002955 biolink:NamedThing vulva basal cell carcinoma A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis. tmpte7i6ely_mondo_relaxed.owl vulvar basal cell carcinoma|vulvar basal cell cancer|skin basal cell carcinoma of mammalian vulva|basal cell carcinoma of the vulva|basal cell carcinoma of vulva|mammalian vulva skin basal cell carcinoma SCTID:717731002|UMLS:C1336977|Orphanet:494451|NCIT:C6381|DOID:4301 owl:Class MONDO:0011007 biolink:NamedThing diaphragmatic defect-limb deficiency-skull defect syndrome This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies. tmpte7i6ely_mondo_relaxed.owl diaphragmatic defects, limb deficiencies, and ossification defects of skull|froster syndrome|diaphragmatic defect limb deficiency skull defect|froster-Huch syndrome GARD:0002397|OMIM:601163|SCTID:721095007|MESH:C563380|Orphanet:2141|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome owl:Class GO:0030856 biolink:NamedThing regulation of epithelial cell differentiation Any process that modulates the frequency, rate or extent of epithelial cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006939 biolink:NamedThing smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. tmpte7i6ely_mondo_relaxed.owl visceral muscle contraction owl:Class MONDO:0013231 biolink:NamedThing Leber congenital amaurosis 14 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa, juvenile, LRAT-related|Leber congenital amaurosis type 14|LCA14|Leber congenital amaurosis caused by mutation in LRAT|retinal dystrophy, early-onset Severe, LRAT-related|LRAT Leber congenital amaurosis|Leber congenital amaurosis 14 Orphanet:791|GARD:0010883|UMLS:C2750063|DOID:0110188|Orphanet:65|OMIM:613341|ICD10:H35.5|MESH:C567636 https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14 owl:Class MONDO:0060555 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 2 tmpte7i6ely_mondo_relaxed.owl VCRL2|vertebral, cardiac, renal, and limb defects syndrome 2|congenital NAD deficiency disorder 2|kynureninase deficiency, complete OMIM:617661|UMLS:C4540014 owl:Class HGNC:20672 biolink:NamedThing PHF8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018668 biolink:NamedThing scedosporiosis tmpte7i6ely_mondo_relaxed.owl Orphanet:449280|ICD10:B48.7 owl:Class CHEBI:29214 biolink:NamedThing sulfonic acid tmpte7i6ely_mondo_relaxed.owl [SHO2(OH)]|sulfonic acid|hydridohydroxidodioxidosulfur|HSHO3|acide sulfonique|Sulfonsaeure|sulphonic acid owl:Class CHEBI:33402 biolink:NamedThing sulfur oxoacid tmpte7i6ely_mondo_relaxed.owl oxoacids of sulfur|sulfur oxoacids owl:Class ENVO:01001084 biolink:NamedThing particulate matter formation process A process during which microscopic solid or liquid objects are formed. tmpte7i6ely_mondo_relaxed.owl particle formation owl:Class MONDO:0007064 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. tmpte7i6ely_mondo_relaxed.owl severe combined immunodeficiency due to ADA deficiency|adenosine deaminase deficiency, partial|partial ADA deficiency|SCID due to ADA deficiency, early-onset|SCID due to ADA deficiency, delayed onset|severe combined immunodeficiency due to adenosine deaminase deficiency|adenosine deaminase deficiency|SCID due to adenosine deaminase deficiency|ADA deficiency|ADA|SCID due to ADA deficiency|ADA-SCID|adenosine deaminase deficient severe combined immunodeficiency|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|SCID due to ADA deficiency, late-onset GARD:0005748|MedDRA:10066367|Orphanet:277|DOID:5810|NCIT:C3962|ICD9:277.2|CSP:1560-6660|MESH:C531816|SCTID:44940001|EFO:0009147|ICD10:D81.3|OMIM:102700 https://github.com/monarch-initiative/mondo/issues/4200|https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency owl:Class MONDO:0017855 biolink:NamedThing T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. tmpte7i6ely_mondo_relaxed.owl T-B- SCID Orphanet:317419|ICD10:D81.1 owl:Class MONDO:0017211 biolink:NamedThing infectious panuveitis tmpte7i6ely_mondo_relaxed.owl Orphanet:279925|ICD10:H44.1 owl:Class NCBITaxon:1224679 biolink:NamedThing Diphyllobothriidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6200 biolink:NamedThing Eucestoda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0032251 biolink:NamedThing Abnormal immune system morphology tmpte7i6ely_mondo_relaxed.owl 2019-01-27 16:44:33+00:00 peter human_phenotype owl:Class HP:0010525 biolink:NamedThing Finger agnosia An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. tmpte7i6ely_mondo_relaxed.owl MSH:D000377|UMLS:C0234509|SNOMEDCT_US:3449007 peter 2009-09-20T11:37:33Z human_phenotype owl:Class MONDO:0000088 biolink:NamedThing precocious puberty Unusually early sexual maturity. tmpte7i6ely_mondo_relaxed.owl idiopathic sexual precocity|pubertas praecox|familial precocious puberty|sexual precocity NCIT:C79704|OMIM:176400|MedDRA:10044701|MESH:D011629|SCTID:400179000|HP:0000826|Orphanet:95708|ICD10:E22.8|GARD:0007446|UMLS:C0034013|ICD10:E30.1|MedDRA:10058084|ICD9:259.1 https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty owl:Class UBERON:0009647 biolink:NamedThing tympanic membrane epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033809 biolink:NamedThing isolated blepharochalasis tmpte7i6ely_mondo_relaxed.owl Orphanet:519390 owl:Class UBERON:0010745 biolink:NamedThing sacral vertebra cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2001457 biolink:NamedThing postcranial axial cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014402 biolink:NamedThing severe neurodegenerative syndrome with lipodystrophy tmpte7i6ely_mondo_relaxed.owl encephalopathy, progressive, with or without lipodystrophy|PELD|severe neurodegenerative syndrome due to BSCL2 deficiency ICD10:G31.8|Orphanet:363400|UMLS:C4014700|OMIM:615924 owl:Class MONDO:0005723 biolink:NamedThing Cryptococcal meningitis Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) tmpte7i6ely_mondo_relaxed.owl Cryptococcus neoformans caused infectious meningitis|Cryptococcus neoformans infectious meningitis MESH:D016919|SCTID:14232007|DOID:0080159|EFO:0007228|ICD9:321.0 owl:Class MONDO:0006764 biolink:NamedThing fungal meningitis Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. tmpte7i6ely_mondo_relaxed.owl Fungi infectious meningitis|Fungi caused infectious meningitis MESH:D016921|DOID:11608|EFO:1000942|MedDRA:10017538|ICD9:117.9|UMLS:C0085438|ICD9:321.1|SCTID:24321005 owl:Class CHEBI:37134 biolink:NamedThing elemental barium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010959 biolink:NamedThing van den Ende-Gupta syndrome Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. tmpte7i6ely_mondo_relaxed.owl Marden Walker like syndrome without psychomotor retardation|Marden Walker like syndrome|VAN DEN Ende-Gupta syndrome|Marden-Walker-like syndrome without psychomotor retardation|blepharophimosis, arachnodactyly, and congenital contractures|Van den Ende Gupta syndrome|VDEGS|Marden-Walker-like syndrome|van den Ende-Gupta syndrome MESH:C535909|Orphanet:2460|GARD:0003382|UMLS:C1833136|OMIM:600920|DOID:0111699|SCTID:719845008|ICD10:Q87.0 owl:Class MONDO:0017884 biolink:NamedThing papillary renal cell carcinoma A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. tmpte7i6ely_mondo_relaxed.owl RCCP|chromophil RCC|papillary renal cell cancer|chromophil carcinoma of the kidney|RCCP1|papillary renal cell carcinoma, multiple - (subtype)|papillary (chromophil) renal cell carcinoma|papillary kidney carcinoma|HPRCC|sporadic papillary renal cell carcinoma|chromophil renal cell carcinoma|papillary renal cell carcinoma, sporadic - (subtype)|papillary renal cell adenocarcinoma|renal cell carcinoma, papillary, type 1|papillary renal cell carcinoma, familial - (subtype)|renal cell carcinoma, papillary, 1|chromophil carcinoma of kidney|papillary renal cell carcinoma|renal adenocarcinoma|papillary renal cell carcinoma, bilateral - (subtype)|papillary renal carcinoma, malignant - (subtype) NCIT:C6975|DOID:4465|GARD:0009572|UMLS:C1336078|UMLS:C1306837|EFO:0000640|ONCOTREE:PRCC|SCTID:733608000|UMLS:CN205129|Orphanet:319298|Orphanet:47044|ICD10:C64|UMLS:C0879257|MESH:D002292|OMIM:605074|GARD:0009575 https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma owl:Class CL:0002009 biolink:NamedThing macrophage dendritic cell progenitor A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. tmpte7i6ely_mondo_relaxed.owl MDP tmeehan 2010-01-19T02:51:58Z cell owl:Class MONDO:0021979 biolink:NamedThing Basaran Yilmaz syndrome A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. tmpte7i6ely_mondo_relaxed.owl keratoderma, hypotrichosis and leukonychia totalis GARD:0000833|UMLS:C2931577|MESH:C537660 https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome owl:Class MONDO:0021177 biolink:NamedThing autoimmune hepatitis type 3 Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens. tmpte7i6ely_mondo_relaxed.owl autoimmune hepatitis type 3 SCTID:721713007|UMLS:C4303162 owl:Class MONDO:0001048 biolink:NamedThing orbital granuloma A granuloma located on the orbit of the eye. tmpte7i6ely_mondo_relaxed.owl ICD9:376.11|NCIT:C3653|UMLS:C0155262|SCTID:72776003|DOID:10499|ICD10:H05.11 owl:Class MONDO:0001849 biolink:NamedThing chronic orbital inflammation tmpte7i6ely_mondo_relaxed.owl chronic inflammation of orbit ICD10:H05.1|DOID:1397|SCTID:44729001|UMLS:C0155261|ICD9:376.1|ICD9:376.10 owl:Class GO:0008037 biolink:NamedThing cell recognition The process in which a cell in an organism interprets its surroundings. tmpte7i6ely_mondo_relaxed.owl recognition of surroundings by cell owl:Class MONDO:0010367 biolink:NamedThing SHOX-related short stature SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. tmpte7i6ely_mondo_relaxed.owl ISS|short stature, idiopathic, X-linked EFO:0008989|OMIM:300582|SCTID:763868006|MESH:C564479|Orphanet:314795|ICD10:Q87.1 owl:Class MONDO:0060763 biolink:NamedThing intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene. tmpte7i6ely_mondo_relaxed.owl BCL11B-related BAFopathy|IDDSFTA|INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities OMIM:618092 owl:Class MONDO:0008517 biolink:NamedThing syndactyly-polydactyly-ear lobe syndrome tmpte7i6ely_mondo_relaxed.owl hallux syndactyly ulnar polydactyly abnormal ear lobes|Spel syndrome|syndactyly-polydactyly-earlobe syndrome Orphanet:3259|GARD:0005090|UMLS:C1861347|MESH:C566091|OMIM:186350 owl:Class GO:0045863 biolink:NamedThing negative regulation of pteridine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpte7i6ely_mondo_relaxed.owl downregulation of pteridine metabolic process|down-regulation of pteridine metabolic process|inhibition of pteridine metabolic process|down regulation of pteridine metabolic process|negative regulation of pteridine metabolism owl:Class CL:0002437 biolink:NamedThing mature CD8 single-positive thymocyte A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpte7i6ely_mondo_relaxed.owl T.8SP24-.Th tmeehan 2010-10-21T03:51:50Z cell owl:Class MONDO:0016348 biolink:NamedThing non-genetic cardiac rhythm disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN201186|Orphanet:218439 owl:Class MONDO:0011861 biolink:NamedThing breath-holding Spells tmpte7i6ely_mondo_relaxed.owl Bhs|breath-holding Spells OMIM:607578 owl:Class UBERON:0035111 biolink:NamedThing medial plantar nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030533 biolink:NamedThing intellectual developmental disorder, autosomal recessive 73 tmpte7i6ely_mondo_relaxed.owl MRT73 OMIM:619717 owl:Class CHEBI:37949 biolink:NamedThing azacycloalkane tmpte7i6ely_mondo_relaxed.owl azacycloalkanes owl:Class CHEBI:25693 biolink:NamedThing organic heteromonocyclic compound tmpte7i6ely_mondo_relaxed.owl organic heteromonocyclic compounds owl:Class GO:0030073 biolink:NamedThing insulin secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018308 biolink:NamedThing liver mesenchymal hamartoma A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good. tmpte7i6ely_mondo_relaxed.owl liver mesenchymal hamartoma|liver MH|Von Meyenburg complexes disease|MHL|mesenchymal hamartoma of liver|hepatic mesenchymal hamartoma|biliary hamartoma|VMC|mesenchymal hamartoma of the liver|hepatic cystic hamartoma UMLS:C0334091|UMLS:C1333971|Orphanet:386|GARD:0002651|NCIT:C5751|ICD10:D13.4|SCTID:715397000 Editor note: in NCIT this is classified as non-neoplastic https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma owl:Class MONDO:0024478 biolink:NamedThing mesenchymal hamartoma tmpte7i6ely_mondo_relaxed.owl mesenchymal hamartoma UMLS:C0334090|NCIT:C40427 owl:Class MONDO:0019341 biolink:NamedThing tuberous sclerosis complex A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. tmpte7i6ely_mondo_relaxed.owl Bourneville syndrome|tuberous sclerosis|Bourneville's syndrome 2022-05-01 GARD:0007830|Orphanet:805|ICD10:Q85.1|MedDRA:10045138|GARD:0000946|OMIM:191100|OMIM:613254 Reason: duplicate. This will be merged with MONDO:0001734 owl:Class NCBITaxon:2082223 biolink:NamedThing Panagrolaimomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005177 biolink:NamedThing trunk region element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018443 biolink:NamedThing FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:404451|ICD10:Q87.8|UMLS:CN226185 owl:Class MONDO:0003912 biolink:NamedThing malignant ciliary body melanoma A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl melanoma of ciliary body|ciliary body malignant melanoma|ciliary body melanoma|melanoma of the ciliary body|ciliary body melanoma (disease)|malignant melanoma of ciliary body|melanoma (disease) of ciliary body|malignant melanoma of the ciliary body SCTID:255015006|ICD9:190.8|NCIT:C4558|DOID:6524|UMLS:C0346379 MONDO:0021434 owl:Class MONDO:0010519 biolink:NamedThing alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. tmpte7i6ely_mondo_relaxed.owl Alpha thalassemia X-linked intellectual disability syndrome|ATR, nondeletion type|ATR, Nondeletion type|ATRX|alpha thalassemia-X-linked intellectual disability syndrome|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|alpha-thalassemia/intellectual disability syndrome nondeletion type|Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|alpha-thalassemia/mental retardation syndrome nondeletion type|ALPHA-thalassemia/mental retardation syndrome, X-linked|Alpha thalassemia/mental retardation syndrome X-linked|Alpha-thalassemia-X-linked intellectual disability syndrome|Alpha thalassemia X-linked mental retardation syndrome|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|Alpha-thalassemia x-linked intellectual disability syndrome|ATR-X syndrome|ALPHA-thalassemia/intellectual disability syndrome, X-linked|Alpha thalassemia/intellectual disability syndrome X-linked|ATRX syndrome|XLMR hypotonic face syndrome MESH:C538258|UMLS:C1845055|Orphanet:847|DOID:0110030|ICD10:D56.0|OMIM:301040|GARD:0005864|NCIT:C118631|SCTID:715342005 Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome owl:Class MONDO:0016258 biolink:NamedThing uterine corpus carcinofibroma An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component. tmpte7i6ely_mondo_relaxed.owl uterine corpus Carcinofibroma|Carcinofibroma of the corpus uteri Orphanet:213605|UMLS:C1883485|ICD10:C54.1|ICD10:C54.8|ICDO:8934/3|ICD10:C54.3|ICD10:C54.2|ICD10:C54.0|NCIT:C40182 owl:Class CHEBI:33744 biolink:NamedThing iron group molecular entity tmpte7i6ely_mondo_relaxed.owl iron group molecular entity|iron group molecular entities owl:Class MONDO:0011732 biolink:NamedThing familial digital arthropathy-brachydactyly Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl FDAB|digital arthropathy-brachydactyly, familial Orphanet:85169|UMLS:C1847406|ICD10:M06.8|MESH:C564656|OMIM:606835 owl:Class MONDO:0015249 biolink:NamedThing mitral atresia disorder A congenital heart defect characterized by the complete atresia of the mitral valve. tmpte7i6ely_mondo_relaxed.owl mitral atresia|mitral valve atresia|congenital mitral valve atresia|congenital atresia of mitral valve SCTID:23063005|ICD10:Q23.2|Orphanet:1205|HP:0011560|GARD:0003685|NCIT:C98992 owl:Class GO:1902115 biolink:NamedThing regulation of organelle assembly Any process that modulates the frequency, rate or extent of organelle assembly. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002681 biolink:NamedThing choroid plexus cancer A malignant neoplasm involving the choroid plexus tmpte7i6ely_mondo_relaxed.owl malignant tumor of choroid plexus|malignant choroid plexus tumor|malignant tumor of the choroid plexus|cancer of choroid plexus|malignant choroid plexus tumors|tumor of choroid plexus|malignant choroid plexus neoplasms|choroid plexus neoplasm|malignant neoplasm of choroid plexus|malignant neoplasm of the choroid plexus|choroid plexus cancer|malignant choroid plexus neoplasm SCTID:254942002|DOID:3540|NCIT:C3473|NCIT:C4533|UMLS:C0085138 Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 owl:Class MONDO:0017752 biolink:NamedThing defect in V-ATPase tmpte7i6ely_mondo_relaxed.owl Orphanet:309778|ICD10:E77.8 owl:Class MONDO:0002493 biolink:NamedThing prostatic acinar adenocarcinoma An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants. tmpte7i6ely_mondo_relaxed.owl acinar prostate adenocarcinoma|acinar adenocarcinoma of the prostate|prostatic acinar adenocarcinoma|acinar adenocarcinoma of prostate|prostate acinar adenocarcinoma UMLS:C1332139|NCIT:C5596|DOID:3024 owl:Class MONDO:0019962 biolink:NamedThing thyroid lymphoma A lymphoma primarily involving the thyroid gland. tmpte7i6ely_mondo_relaxed.owl lymphoma of the thyroid gland|thyroid lymphoma|lymphoma of the thyroid|lymphoma of thyroid gland|primary thyroid gland lymphoma|thyroid gland lymphoma|lymphoma of thyroid UMLS:C1336753|DOID:10011|Orphanet:97285|ICD10:C85.7|NCIT:C5265 owl:Class MONDO:0035124 biolink:NamedThing linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies tmpte7i6ely_mondo_relaxed.owl Orphanet:589608 owl:Class MONDO:0010123 biolink:NamedThing absent thumb-short stature-immunodeficiency syndrome An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. tmpte7i6ely_mondo_relaxed.owl thumb agenesis, short stature, and immunodeficiency MESH:C564770|Orphanet:2951|UMLS:C1848818|ICD10:D82.8|OMIM:274190 owl:Class MONDO:0016648 biolink:NamedThing multiple epiphyseal dysplasia Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. tmpte7i6ely_mondo_relaxed.owl Polyepiphyseal dysplasia|polyepiphyseal dysplasia|multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia|EDM|MED|epiphyseal dysplasia, multiple multiple epiphyseal dysplasia (disease) HP:0002654|ICD10:Q77.3|MedDRA:10028197|OMIM:607078|OMIM:226900|OMIM:600969|OMIM:614135|OMIM:132400|OMIM:600204|MESH:D010009|SCTID:59708000|Orphanet:251|OMIMPS:132400|ICD9:756.56|DOID:12721|GARD:0010756 owl:Class MONDO:0020396 biolink:NamedThing anomaly of the tricuspid valve chordae Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:Q22.8|Orphanet:99055 owl:Class MONDO:0019816 biolink:NamedThing anomaly of the tricuspid subvalvular apparatus tmpte7i6ely_mondo_relaxed.owl ICD10:Q22.8|Orphanet:95463 owl:Class MONDO:0015432 biolink:NamedThing ring chromosome 12 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. tmpte7i6ely_mondo_relaxed.owl Ring chromosome 12 syndrome|Ring chromosome type 12|chromosome 12 ring|Ring 12|R12 Orphanet:1439|UMLS:C0795843|ICD10:Q93.2|GARD:0001325|MESH:C538298 https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12 owl:Class MONDO:0009039 biolink:NamedThing Baller-Gerold syndrome Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). tmpte7i6ely_mondo_relaxed.owl craniosynostosis-radial aplasia syndrome|BGS|craniosynostosis with radial defects|Baller-Gerold syndrome|BALLER-Gerold syndrome GARD:0001602|ICD10:Q75.0|MESH:C536788|OMIM:218600|UMLS:C0265308|SCTID:77608001|DOID:0050654|Orphanet:1225 https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome owl:Class MONDO:0054601 biolink:NamedThing pituitary adenoma 5, multiple types tmpte7i6ely_mondo_relaxed.owl PITA5|pituitary adenoma 5, multiple types UMLS:C4539685|OMIM:617540 owl:Class UBERON:0006298 biolink:NamedThing submandibular gland primordium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060765 biolink:NamedThing regulation of androgen receptor signaling pathway Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl regulation of androgen receptor signalling pathway owl:Class MONDO:0001564 biolink:NamedThing binocular vision disease Any inability to efficiently utilize and/or sustain binocular vision. tmpte7i6ely_mondo_relaxed.owl simultaneous visual perception without fusion|binocular vision disorder NCIT:C34422|ICD10:H53.30|DOID:12667|SCTID:83275001|ICD9:368.30 owl:Class CL:0002078 biolink:NamedThing meso-epithelial cell Epithelial cell derived from mesoderm or mesenchyme. tmpte7i6ely_mondo_relaxed.owl epithelial mesenchymal cell FMA:69076 tmeehan 2010-06-29T03:49:14Z cell owl:Class MONDO:0024574 biolink:NamedThing von Willebrand disease (hereditary or acquired) Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. tmpte7i6ely_mondo_relaxed.owl von Willebrand disorder|von Willebrand's disease|von Willebrand disease|VWD MESH:D014842|SCTID:128105004|ICD10:D68.0|ICD9:286.4|NCIT:C68677|UMLS:C0042974 owl:Class UBERON:4000164 biolink:NamedThing caudal fin tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035239 biolink:NamedThing tube morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022417 biolink:NamedThing alopecia congenita keratosis palmoplantaris tmpte7i6ely_mondo_relaxed.owl alopecia congenita with keratosis palmoplantaris|alopecia congenita with hyperkeratosis of the palms and soles MESH:C537050 owl:Class MONDO:0017482 biolink:NamedThing humeral agenesis/hypoplasia, unilateral tmpte7i6ely_mondo_relaxed.owl humeral intercalary meromelia, unilateral Orphanet:295061|ICD10:Q71.8 owl:Class GO:0014033 biolink:NamedThing neural crest cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:83138 biolink:NamedThing Anystina tmpte7i6ely_mondo_relaxed.owl Anystides GC_ID:1 ncbi_taxonomy owl:Class HGNC:17327 biolink:NamedThing WAC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012864 biolink:NamedThing chromosome 2q32-q33 deletion syndrome 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. tmpte7i6ely_mondo_relaxed.owl 2q32-q33 microdeletion syndrome|2q32q33 microdeletion syndrome|glass syndrome|SATB2-associated syndrome|Del(2)(q32q33)|SATB2 syndrome|monosomy 2q32q33|chromosome 2q32-q33 deletion syndrome|monosomy 2q32-q33|Del(2)(q32)|glass|monosomy 2q32|SAS|2q32q33 microdeletion syndromes UMLS:C4304531|ICD10:Q93.5|UMLS:C2676739|OMIM:612313|SCTID:719659003|Orphanet:251019|MESH:C567350|GARD:0013206|DOID:0060428 owl:Class NCBITaxon:1980613 biolink:NamedThing unclassified Bunyavirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018840 biolink:NamedThing isolated congenital hepatic fibrosis A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. tmpte7i6ely_mondo_relaxed.owl congenital fibrose liver|congenital hepatic fibrosis|isolated CHF|nonsyndromic congenital hepatic fibrosis MESH:C562378|ICD9:777.8|NCIT:C97071|Orphanet:485426|SCTID:79607001|GARD:0006168|UMLS:C0009714 https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis owl:Class MONDO:0007329 biolink:NamedThing cirrhosis, familial Cirrhosis in which no causative agent can be identified. tmpte7i6ely_mondo_relaxed.owl endemic Tyrolean infantile cirrhosis|cirrhosis, cryptogenic|cirrhosis, familial|cirrhosis, Noncryptogenic, susceptibility to|copper-overload cirrhosis|Indian childhood cirrhosis|cirrhosis, familial, with pulmonary hypertension|Sen syndrome|cryptogenic cirrhosis|copper toxicosis, idiopathic|hereditary cirrhosis of liver Orphanet:209919|OMIM:215600|NCIT:C84411|SCTID:6183001 owl:Class MONDO:0013595 biolink:NamedThing hyperbiliverdinemia Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. tmpte7i6ely_mondo_relaxed.owl HBLVD|green jaundice|hyperbiliverdinemia UMLS:C3279964|Orphanet:276405|ICD10:K76.8|OMIM:614156 owl:Class CL:1001610 biolink:NamedThing bone marrow hematopoietic cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. tmpte7i6ely_mondo_relaxed.owl bone marrow hematopoietic cells|bone marrow poietic cells CALOHA:TS-2109 owl:Class MONDO:0021027 biolink:NamedThing genetic hair anomaly An instance of hair anomaly that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic hair anomaly Orphanet:183450 owl:Class UBERON:0001089 biolink:NamedThing sweat tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014936 biolink:NamedThing ZTTK syndrome tmpte7i6ely_mondo_relaxed.owl ZTTK multiple congenital anomalies-intellectual disability syndrome|Zhu-Tokita-Takenouchi-Kim syndrome|ZTTKS|ZTTK multiple congenital anomalies-mental retardation syndrome|ZTTK syndrome|brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|Tokita-Kim syndrome|TOKIMS Orphanet:500150|UMLS:C4310696|OMIM:617140 owl:Class MONDO:0013521 biolink:NamedThing dyskeratosis congenita, autosomal dominant 2 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. tmpte7i6ely_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 4|DKCA2|autosomal dominant dyskeratosis congenita 2|dyskeratosis congenita, autosomal dominant type 2|dyskeratosis congenita, autosomal dominant 2 DOID:0070016|Orphanet:3322|UMLS:C3151443|Orphanet:1775|OMIM:613989 owl:Class MONDO:0011458 biolink:NamedThing Leber congenital amaurosis 4 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene. tmpte7i6ely_mondo_relaxed.owl AIPL1 Leber congenital amaurosis|Leber congenital amaurosis type 4|cone-rod dystrophy, Aipl1-related|retinitis pigmentosa, juvenile, Aipl1-related|amaurosis congenita of Leber, type 4|Leber congenital amaurosis caused by mutation in AIPL1|LCA4|Leber congenital amaurosis 4 DOID:0110332|MESH:C565778|Orphanet:65|ICD10:H35.5|Orphanet:1872|GARD:0009662|UMLS:C1858386|Orphanet:791|OMIM:604393 https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4 owl:Class MONDO:0007142 biolink:NamedThing Townes-Brocks syndrome Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. tmpte7i6ely_mondo_relaxed.owl renal-ear-anal-radial syndrome|sensorineural deafness with imperforate anus and hypoplastic thumbs|anus, imperforate, with hand, foot, and Ear anomalies|deafness, sensorineural, with imperforate anus and thumb anomalies|TBS1|renal-Ear-anal-radial syndrome|Townes-Brocks syndrome 1|Townes-Brocks syndrome|anus, imperforate, with hand, foot and ear anomalies|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|imperforate anus with hand, foot and ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|TBS|Townes syndrome|rear syndrome Orphanet:857|GARD:0007784|ICD10:Q87.8|UMLS:C0265246|UMLS:CN034849|SCTID:24750000|MESH:C536974|ICD9:759.89|OMIMPS:107480|NCIT:C99085|DOID:0050887 https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome owl:Class UBERON:0015476 biolink:NamedThing nose skin tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098858 biolink:NamedThing actin-based cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:408 biolink:NamedThing ALDH5A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008780 biolink:NamedThing amyotrophic lateral sclerosis type 2, juvenile Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in ALS2|amyotrophic lateral sclerosis 2, juvenile|ALS2|ALS, juvenile|amyotrophic lateral sclerosis 2|ALS2 amyotrophic lateral sclerosis GARD:0009470|MESH:C565957|ICD10:G12.2|OMIM:205100|DOID:0060194|Orphanet:300605 https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2 owl:Class MONDO:0017593 biolink:NamedThing juvenile amyotrophic lateral sclerosis Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. tmpte7i6ely_mondo_relaxed.owl juvenile Charcot disease|JALS|juvenile Lou Gehrig disease|amyotrophic lateral sclerosis, juvenile UMLS:CN239582|UMLS:C3468114|ICD10:G12.2|OMIM:602099|SCTID:718555006|OMIM:205100|OMIM:614373|GARD:0011901|Orphanet:300605 https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis owl:Class MONDO:0003812 biolink:NamedThing ovarian endometrial cancer A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpte7i6ely_mondo_relaxed.owl ovary endometrioid tumor|ovary female reproductive endometrioid cancer|endometrioid tumor of ovary|ovarian endometrioid neoplasm|endometrioid neoplasm of ovary|malignant ovarian endometrioid tumor DOID:6212|UMLS:C1518231|NCIT:C40051 owl:Class MONDO:0100044 biolink:NamedThing acrofrontofacionasal dysostosis 1 tmpte7i6ely_mondo_relaxed.owl acrofrontofacionasal dysostosis 1|AFFN dysostosis 1|acrofrontofacionasal dysostosis type 1 OMIM:201180|UMLS:C4551987|MESH:C538186 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008715 biolink:NamedThing acrofrontofacionasal dysostosis A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. tmpte7i6ely_mondo_relaxed.owl AFFN dysostosis|acrofrontofacionasal dysostosis type 1|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|Affn dysostosis 1|Richieri-Costa-Colletto syndrome|acrofrontofacionasal dysostosis syndrome|polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate|acro fronto facio nasal dysostosis|acrofrontofacionasal dysostosis 1|cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly DOID:0060226|OMIM:201180|SCTID:720408003|UMLS:C1860118|GARD:0000484|Orphanet:1784|ICD10:Q75.1|OMIM:239710|MESH:C538186 owl:Class ENVO:09200004 biolink:NamedThing porosity of soil The porosity of some soil. tmpte7i6ely_mondo_relaxed.owl soil porosity owl:Class MONDO:0020362 biolink:NamedThing inverse Marcus-Gunn phenomenon Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:Q07.8|UMLS:CN207213|Orphanet:98951 owl:Class CHEBI:176838 biolink:NamedThing vitamin B2 Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms). tmpte7i6ely_mondo_relaxed.owl vitamins B2 vitamers|vitamins B2|vitamin B2|vitamin B-2|vitamins B2 vitamer owl:Class CHEBI:67079 biolink:NamedThing anti-inflammatory agent Any compound that has anti-inflammatory effects. tmpte7i6ely_mondo_relaxed.owl antiinflammatory agents|antiinflammatory agent|anti-inflammatory agents owl:Class MONDO:0018957 biolink:NamedThing pudendal neuralgia Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction. tmpte7i6ely_mondo_relaxed.owl Pudendalgia|Alcock syndrome|pudendal algia|pudendal neuralgia by pudendal nerve entrapment|neuralgia of pudendal nerve|pudendal nerve neuralgia|pudendal nerve entrapment syndrome UMLS:CN226268|SCTID:427972000|UMLS:C3178970|Orphanet:60039|GARD:0010713|ICD10:M79.2|ICD9:729.2|MESH:D060545|UMLS:C1997249 https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia owl:Class MONDO:0007562 biolink:NamedThing multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits. tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, multiple, with myopia and conductive deafness|multiple epiphyseal dysplasia-myopia-deafness syndrome|EDMMD SCTID:719689005|DOID:0111348|MESH:C565046|ICD10:Q77.3|Orphanet:166011|OMIM:132450 owl:Class MONDO:0043197 biolink:NamedThing ruvalcaba churesigaew myhre syndrome tmpte7i6ely_mondo_relaxed.owl onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis MESH:C537190|UMLS:C2931437|GARD:0004747 owl:Class MONDO:0018760 biolink:NamedThing WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:616708|UMLS:CN242159|Orphanet:466943 owl:Class MONDO:0021309 biolink:NamedThing malignant neoplasm of endocervix A cancer that involves the endocervix. tmpte7i6ely_mondo_relaxed.owl malignant endocervical tumor|malignant tumor of uterine endocervix|malignant uterine endocervix neoplasm|malignant neoplasm of the uterine endocervix|malignant neoplasm of uterine endocervix|malignant neoplasm of the endocervix|malignant endocervical neoplasm|malignant tumor of the endocervix|endocervix cancer|malignant uterine endocervix tumor|cancer of endocervix|malignant endocervix neoplasm|malignant tumor of the uterine endocervix|malignant neoplasm of endocervix|malignant tumor of endocervix|malignant endocervix tumor ICD9:180.0|NCIT:C3553|SCTID:372097009|ICD10:C53.0 owl:Class HGNC:21708 biolink:NamedThing CCM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010382 biolink:NamedThing fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. tmpte7i6ely_mondo_relaxed.owl fragile X tremor/ataxia syndrome|FXTAS syndrome|FXTAS|fragile 10 tremor/ataxia syndrome MESH:C564105|OMIM:300623|NCIT:C126566|Orphanet:93256|SCTID:448045004|DOID:0050879|UMLS:C1839780|ICD10:G11.2 owl:Class MONDO:0010545 biolink:NamedThing Nance-Horan syndrome Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Mesiodens cataract syndrome|Mesiodens-cataract syndrome|Nance-Horan syndrome|cataract, X-linked, with Hutchinsonian teeth|NHS|cataract-dental syndrome|cataract X-linked with Hutchinsonian teeth|cataract dental syndrome MESH:C538336|GARD:0007161|UMLS:C0796085|DOID:0060599|SCTID:445257004|ICD9:759.89|Orphanet:627|OMIM:302350|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome owl:Class MONDO:0009270 biolink:NamedThing genito-palato-cardiac syndrome Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. tmpte7i6ely_mondo_relaxed.owl Gardner-Silengo-Wachtel syndrome|Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect|GENITOPALATOCARDIAC syndrome|genito palato cardiac syndrome Orphanet:2075|UMLS:C1856466|OMIM:231060|ICD10:Q87.8|GARD:0002460|MESH:C537683 https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome owl:Class CL:0009021 biolink:NamedThing stromal cell of lamina propria of large intestine A stromal cell found in the lamina propria of the large intestine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009440 biolink:NamedThing ichthyosiform erythroderma, corneal involvement, and hearing loss tmpte7i6ely_mondo_relaxed.owl Desmons syndrome|KID syndrome, autosomal recessive|ichthyosiform erythroderma, corneal involvement, and deafness|keratitis-ichthyosis-deafness syndrome, autosomal recessive|ichthyosiform erythroderma, corneal involvement, deafness OMIM:242150|SCTID:403780007|MESH:C537363|Orphanet:477|GARD:0002946|UMLS:C1275089 https://github.com/monarch-initiative/mondo/issues/551 owl:Class GO:0050714 biolink:NamedThing positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. tmpte7i6ely_mondo_relaxed.owl up regulation of protein secretion|activation of protein secretion|upregulation of protein secretion|stimulation of protein secretion|up-regulation of protein secretion owl:Class CL:0000843 biolink:NamedThing follicular B cell A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative. tmpte7i6ely_mondo_relaxed.owl follicular B-lymphocyte|follicular B lymphocyte|Fo B-cell|follicular B-cell|Fo B cell Follicular B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class CL:0000822 biolink:NamedThing B-2 B cell A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative. tmpte7i6ely_mondo_relaxed.owl B-2 B-lymphocyte|B-2 B lymphocyte|B2 cell|B2 B-cell|B-0 B cell|B-2 B-cell|B2 B-lymphocyte|B2 B cell|B2 B lymphocyte B-2 B cells are reportedly CD48-positive, CD244-negative, and CD352-positive. cell owl:Class MONDO:0012494 biolink:NamedThing testicular microlithiasis tmpte7i6ely_mondo_relaxed.owl testicular microlithiasis|testicular microlithiasis (disease) testicular microlithiasis (disease) MESH:C566478|UMLS:C1864873|OMIM:610441|HP:0012215 owl:Class MONDO:0013808 biolink:NamedThing Maffucci syndrome Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. tmpte7i6ely_mondo_relaxed.owl enchondromatosis with hemangiomata|Kast syndrome|Dyschondrodysplasia with hemangiomas|hemangiomatosis Chondrodystrophica|Maffucci syndrome|multiple Angiomas and Endochondromas|Maffucci's anomalad|chondrodysplasia with hemangioma|enchondromatosis with multiple cavernous hemangiomas|hemangiomata with Dyschondroplasia|Dyschondroplasia and cavernous hemangioma|multiple enchondromatosis, Maffucci type|Maffucci type enchondromatosis|Chondroplasia angiomatosis SCTID:46041001|UMLS:C0024454|NCIT:C3213|Orphanet:163634|ICD10:Q78.4|DOID:0060221|GARD:0006958|OMIM:614569|OMIM:166000 https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome owl:Class MONDO:0008301 biolink:NamedThing Guttmacher syndrome Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. tmpte7i6ely_mondo_relaxed.owl autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|preaxial deficiency-postaxial polydactyly-hypospadias syndrome|preaxial deficiency, postaxial polydactyly and hypospadias|preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544|OMIM:176305|Orphanet:2957|ICD10:Q87.2|SCTID:722452004|UMLS:C1867801|GARD:0004470|MESH:C538278 owl:Class UBERON:0004945 biolink:NamedThing submucosa of neck of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019578 biolink:NamedThing nodular lichen myxedematosus Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. tmpte7i6ely_mondo_relaxed.owl atypical tuberous myxedema of Jadassohn-Dosseker ICD10:L98.5|Orphanet:90393|UMLS:C4273968|SCTID:717257000 owl:Class MONDO:0006464 biolink:NamedThing thyroid gland mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis. tmpte7i6ely_mondo_relaxed.owl thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma EFO:1000591|UMLS:C1336754|NCIT:C7601 owl:Class UBERON:0003531 biolink:NamedThing forelimb skin tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50995 biolink:NamedThing secondary amino compound A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups. tmpte7i6ely_mondo_relaxed.owl secondary amino compounds owl:Class MONDO:0017004 biolink:NamedThing partial monosomy of the short arm of chromosome X tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome Xp|partial monosomy of chromosome Xp|partial deletion of the short arm of chromosome X|partial monosomy of the short arm of chromosome type X Orphanet:263731|ICD10:Q99.8 owl:Class MONDO:0017003 biolink:NamedThing partial deletion of chromosome X tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type X|partial monosomy of chromosome X ICD10:Q99.8|Orphanet:263726 owl:Class HGNC:21424 biolink:NamedThing IFT74 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014238 biolink:NamedThing severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 39|mental retardation, autosomal recessive 39|mental retardation, autosomal recessive type 39|intellectual disability, autosomal recessive type 39|MRT39 ICD10:Q87.8|UMLS:C3809853|OMIM:615541|Orphanet:391307 owl:Class MONDO:0008373 biolink:NamedThing retinal arterial tortuosity tmpte7i6ely_mondo_relaxed.owl tortuosity of retinal arteries|retinal arterial tortuosity|retinal arteriolar tortuosity|retinal arterial tortuosity (disease)|retinal hemorrhage with vascular tortuosity|RATOR|retinal arteries, tortuosity OF retinal arterial tortuosity (disease) OMIM:180000|DOID:0111547|ICD10:Q14.1|Orphanet:75326|HP:0001136 owl:Class UBERON:0009636 biolink:NamedThing prechordal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001524 biolink:NamedThing globe disease tmpte7i6ely_mondo_relaxed.owl ICD10:H44.39|DOID:1242|ICD9:360.29 Editor note: Consider merging with parent owl:Class MONDO:0020286 biolink:NamedThing aortic malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98718 owl:Class NCBITaxon:11157 biolink:NamedThing Mononegavirales tmpte7i6ely_mondo_relaxed.owl negative-sense genome single-stranded RNA viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010716 biolink:NamedThing X-linked lethal multiple pterygium syndrome X-linked form of lethal multiple pterygium syndrome. tmpte7i6ely_mondo_relaxed.owl multiple pterygium syndrome X-linked|pterygium syndrome, multiple, X-linked|lethal multiple pterygium syndrome, X-linked|multiple pterygium syndrome, X-linked|pterygium syndrome multiple X-linked SCTID:763462004|Orphanet:79447|GARD:0004573|ICD10:Q79.8|MESH:C564072|OMIM:312150|UMLS:C1839440 https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked owl:Class MONDO:0011553 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 26 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 26|deafness, autosomal recessive 26|autosomal recessive nonsyndromic deafness type 26|DFNB26|autosomal recessive deafness 26 MESH:C565329|OMIM:605428|DOID:0110484|UMLS:C1854275|ICD10:H90.3 owl:Class GO:0045906 biolink:NamedThing negative regulation of vasoconstriction Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction. tmpte7i6ely_mondo_relaxed.owl downregulation of vasoconstriction|down-regulation of vasoconstriction|inhibition of vasoconstriction|down regulation of vasoconstriction owl:Class UBERON:0003473 biolink:NamedThing thoracic cavity artery tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000575 biolink:NamedThing corneal epithelial cell An epithelial cell of the cornea. tmpte7i6ely_mondo_relaxed.owl epithelial cell of cornea BTO:0004298|FMA:70551|CALOHA:TS-0173 CL:1000431 cell owl:Class MONDO:0005288 biolink:NamedThing intestinal polyp Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. tmpte7i6ely_mondo_relaxed.owl intestinal polyp|intestinal polyp (disease) intestinal polyp (disease) ICD9:569.89|SCTID:254588001|HP:0005266|EFO:0003855|MESH:D007417 owl:Class MONDO:0008985 biolink:NamedThing ciliary dyskinesia with transposition of ciliary microtubules tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia with transposition of ciliary microtubules|ciliary dyskinesia, due to transposition of ciliary microtubules Orphanet:244|GARD:0001361|MESH:C567137|OMIM:215520|UMLS:C2673817 owl:Class HP:0000144 biolink:NamedThing Decreased fertility tmpte7i6ely_mondo_relaxed.owl Decreased fertility|Abnormal fertility UMLS:C0520927|SNOMEDCT_US:17276009 human_phenotype owl:Class FOODON:03420148 biolink:NamedThing root, stem, leaf or flower The parts of a plant that are not fruit or seed. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009524 biolink:NamedThing intellectual disability-spasticity-ectrodactyly syndrome Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). tmpte7i6ely_mondo_relaxed.owl intellectual disability spasticity ectrodactyly|intellectual disability, spasticity and transverse limb defects|Jancar syndrome|mental retardation, spasticity and transverse limb defects|limb defects, distal transverse, with intellectual disability and spasticity|limb defects, distal transverse, with mental retardation and spasticity|ectrodactyly, spastic paraplegia and intellectual disability|ectrodactyly, spastic paraplegia and mental retardation|mental retardation spasticity ectrodactyly OMIM:246555|UMLS:C0796001|GARD:0003523|Orphanet:1891|MESH:C537446|SCTID:763743003 https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly owl:Class MONDO:0018938 biolink:NamedThing mucopolysaccharidosis type 4 Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis IV|chondroosteodystrophy|galactosamine-6-sulfatase deficiency|Morquio disease|MPSIV|MPS IV - Morquio syndrome A|mucopolysaccharidosis type IV|mucopolysaccharidosis type 4|deficiency of N-acetylgalactosamine-6-sulphatase|Morquio syndrome|deficiency of chondroitinsulphatase|mucopolysaccharidosis type IVB|mucopolysaccharidosis type IVA|mucopolysaccharidosis, MPS-IV|MPS IV - Morquio syndrome B|Osteochondrodystrophy|MPS4|mucopolysaccharidosis, MPS-IV-A|Morquio syndrome A|Morquio A disease OMIM:253000|OMIM:252300|Orphanet:582|UMLS:C0026707|SCTID:378007|ICD10:E76.219|ICD10:E76.2|SCTID:7259005|DOID:12804|NCIT:C84901|NCIT:C61263|OMIM:253010|ICD10:E76.210|GARD:0012562|MedDRA:10028095 owl:Class MONDO:0012842 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl CMM7|melanoma, cutaneous malignant, susceptibility to, 7 OMIM:612263 owl:Class MONDO:0003008 biolink:NamedThing hereditary renal cell carcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl familial renal carcinoma|hereditary renal cell carcinoma|hereditary renal cell cancer|hereditary renal cell carcinoma (disease)|hereditary renal carcinoma NCIT:C39789|DOID:4455|GARD:0009571|SCTID:717736007|MESH:C536851 https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma owl:Class HGNC:13211 biolink:NamedThing ATP2C1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29796 biolink:NamedThing LAMTOR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003813 biolink:NamedThing ovarian papillary tumor A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl papillary tumor of the ovary|ovarian papillary tumour|papillary tumor of ovary|papillary neoplasm of ovary|ovarian papillary neoplasm|ovarian papillary tumor|ovarian papillary tumor (morphologic abnormality)|papillary neoplasm of the ovary NCIT:C8430|DOID:6214|UMLS:C0476121 owl:Class GO:0019730 biolink:NamedThing antimicrobial humoral response An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051707 biolink:NamedThing response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017284 biolink:NamedThing Xp22.13p22.2 duplication syndrome tmpte7i6ely_mondo_relaxed.owl dup(X)(p22)|Duplication Xp22|dup(X)(p22.13p22.2) Orphanet:284180|UMLS:CN202846|ICD10:Q99.8 owl:Class MONDO:0016851 biolink:NamedThing maternal uniparental disomy of chromosome X tmpte7i6ely_mondo_relaxed.owl UPD(X)mat|maternal uniparental disomy of chromosome type X Orphanet:261519|ICD10:Q99.8 owl:Class MONDO:0017011 biolink:NamedThing uniparental disomy of chromosome X tmpte7i6ely_mondo_relaxed.owl uniparental disomy of chromosome type X|UPD(X) 2022-04-01 Orphanet:263793|ICD10:Q99.8 Reason: grouping class. Term to consider: none owl:Class MONDO:0044785 biolink:NamedThing desmoplastic melanoma A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion. tmpte7i6ely_mondo_relaxed.owl desmoplastic cutaneous (skin) melanoma|desmoplastic melanoma ONCOTREE:DESM|NCIT:C37257 owl:Class NCBITaxon:1386 biolink:NamedThing Bacillus tmpte7i6ely_mondo_relaxed.owl Bacillus|Bacillus rRNA group 1 PMID:10843090|PMID:8138135|PMID:2223602|GC_ID:11|PMID:23475340|PMID:7727277|PMID:1742196|PMID:8863420|PMID:11491334 ncbi_taxonomy owl:Class MONDO:0017616 biolink:NamedThing X-linked intellectual disability, Schutz type tmpte7i6ely_mondo_relaxed.owl Orphanet:3062|ICD10:Q87.8 owl:Class MONDO:0013907 biolink:NamedThing bilateral generalized polymicrogyria Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl bilateral generalised polymicrogyria|microcephaly, short stature, and polymicrogyria with or without seizures|MSSP|bilateral generalized polymicrogyria|polymicrogyria with seizures|PMGYS GARD:0010786|UMLS:C3553831|Orphanet:268940|Orphanet:208447|ICD10:Q04.3|OMIM:614833 https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria owl:Class MONDO:0004425 biolink:NamedThing hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. tmpte7i6ely_mondo_relaxed.owl overactive thyroid DOID:7998|MESH:D006980|SCTID:34486009|OMIM:609152|Orphanet:99819|ICD10:E05.9|NCIT:C3123|EFO:0009189|OMIM:603373|ICD9:242.90 owl:Class MONDO:0001805 biolink:NamedThing female breast central part cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of central portion of female breast|malignant neoplasm of central part of female breast DOID:13799|SCTID:188151006|UMLS:C0153549|ICD10:C50.11|ICD9:174.1 owl:Class MONDO:0012310 biolink:NamedThing fibrosis of extraocular muscles, congenital, with synergistic divergence tmpte7i6ely_mondo_relaxed.owl fibrosis of extraocular muscles, congenital, with synergistic divergence|congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation|external ophthalmoplegia with synergistic divergence OMIM:609612|UMLS:C1865040|Orphanet:45358 owl:Class MONDO:0002471 biolink:NamedThing bursitis Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpte7i6ely_mondo_relaxed.owl adhesive Capsulitides|adhesive capsulitis, shoulder|Capsulitides, adhesive|adhesive capsulitis|Capsulitides, shoulder adhesive|synovial bursa inflammation|frozen shoulder|capsulitis|shoulder, frozen|Bursitides|shoulder adhesive capsulitis|shoulder adhesive Capsulitides|Capsulitides|inflammation of synovial bursa|adhesive capsulitis of the shoulder|frozen shoulders|capsulitis, shoulder adhesive|capsulitis, adhesive|adhesive Capsulitides, shoulder|shoulders, frozen UMLS:C0006444|ICD10:M71.9|ICD9:727.3|DOID:2965|NCIT:C94407|SCTID:84017003|MESH:D002062 owl:Class MONDO:0016717 biolink:NamedThing choroid plexus neoplasm An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. tmpte7i6ely_mondo_relaxed.owl choroid plexus tumor|tumor of the choroid plexus|tumor of choroid plexus|neoplasm of the choroid plexus|choroid plexus neoplasm|neoplasm of choroid plexus Orphanet:251896|UMLS:C0085138|ONCOTREE:CPT|SCTID:254942002|NCIT:C3473 Editor note: see ticket on ncit tracker MONDO:0021226 owl:Class MONDO:8000017 biolink:NamedThing testicular regression syndrome A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. tmpte7i6ely_mondo_relaxed.owl vanishing testis syndrome|embryonic testicular regression syndrome|TRS|vanishing testes syndrome|ETRS SCTID:53599007|UMLS:C0266427|ICD9:752.89|Orphanet:983|ICD10:Q55.0|MedDRA:10002641 owl:Class ENVO:01001554 biolink:NamedThing surface layer of a water body A water surface that is part of a water body. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001194 biolink:NamedThing splenic artery tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:121229 biolink:NamedThing Pthiridae tmpte7i6ely_mondo_relaxed.owl Phthiridae|pubic lice GC_ID:1 ncbi_taxonomy owl:Class GO:0051784 biolink:NamedThing negative regulation of nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpte7i6ely_mondo_relaxed.owl inhibition of nuclear division|down regulation of nuclear division|downregulation of nuclear division|down-regulation of nuclear division owl:Class MONDO:0004701 biolink:NamedThing uterine polyp A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. tmpte7i6ely_mondo_relaxed.owl polyp, uterus|polyp of uterus|uterus polyp|polyp of corpus uteri|uterine polyp|polyp of endometrium|endometrial/uterine polyp|polyp of the uterus ICD10:N84.0|NCIT:C3662|DOID:9042|UMLS:C0156369|SCTID:11314008|ICD9:621.0 owl:Class UBERON:0010255 biolink:NamedThing 3rd arch mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016540 biolink:NamedThing congenital secondary polycythemia tmpte7i6ely_mondo_relaxed.owl congenital secondary erythrocytosis ICD10:D75.1|Orphanet:238536 owl:Class MONDO:0014097 biolink:NamedThing congenital short bowel syndrome Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. tmpte7i6ely_mondo_relaxed.owl CSBS|congenital short bowel syndrome ICD10:Q43.8|Orphanet:2301|SCTID:715201005|OMIM:300048|OMIM:615237 owl:Class MONDO:0015211 biolink:NamedThing non-syndromic intestinal malformation A intestinal malformation that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated intestinal malformation|nonsyndromic intestinal malformation Orphanet:108967 owl:Class MONDO:0002002 biolink:NamedThing postsurgical hypothyroidism tmpte7i6ely_mondo_relaxed.owl post-surgical hypothyroidism|postoperative hypothyroidism ICD9:244.0|DOID:1458|SCTID:27059002|UMLS:C0154157|ICD10:E89.0 owl:Class MONDO:0005420 biolink:NamedThing hypothyroidism Abnormally low levels of thyroid hormone. tmpte7i6ely_mondo_relaxed.owl hypothyroid|thyroid deficiency|thyroid insufficiency|hypothyroidism|underactive thyroid SCTID:40930008|EFO:0004705|NCIT:C26800|DOID:1459|ICD10:E03.9|ICD9:244.9|MESH:D007037 owl:Class MONDO:0013017 biolink:NamedThing hypotrichosis 5 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3. tmpte7i6ely_mondo_relaxed.owl hypotrichosis 5|Marie Unna hereditary hypotrichosis 2|Muhh2|HYPT5|hypt5|hypotrichosis type 5 OMIM:612841|MESH:C567554|Orphanet:444|DOID:0110702|UMLS:C2748535 owl:Class MONDO:0018631 biolink:NamedThing Marie Unna hereditary hypotrichosis Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. tmpte7i6ely_mondo_relaxed.owl Marie Unna congenital hypotrichosis|hypotrichosis, Marie Unna type|MUHH UMLS:C2931059|ICD10:Q84.0|OMIM:146550|GARD:0003390|OMIM:612841|MESH:C535912|Orphanet:444 owl:Class MONDO:0005080 biolink:NamedThing portal hypertension Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. tmpte7i6ely_mondo_relaxed.owl DOID:10762|ICD10:K76.6|ICD9:572.3|NCIT:C3119|SCTID:34742003|EFO:0000666|UMLS:C0020541|GARD:0008229|MESH:D006975 owl:Class NCBITaxon:85604 biolink:NamedThing Amphiesmenoptera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014058 biolink:NamedThing facial dysmorphism-immunodeficiency-livedo-short stature syndrome A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. tmpte7i6ely_mondo_relaxed.owl facial dysmorphism, immunodeficiency, livedo, and short stature|fils syndrome|fils Orphanet:352712|ICD10:Q87.1|UMLS:C3554576|OMIM:615139 owl:Class MONDO:0008051 biolink:NamedThing tubular aggregate myopathy Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. tmpte7i6ely_mondo_relaxed.owl TAM1|myopathy, tubular aggregate, 1|myopathy, tubular aggregate, type 1|tubular aggregate myopathy GARD:0003884|OMIM:615883|Orphanet:2593|DOID:0080089|OMIM:160565|OMIMPS:160565|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy owl:Class MONDO:0017031 biolink:NamedThing primary interstitial lung disease in childhood and adulthood tmpte7i6ely_mondo_relaxed.owl primary ILD in childhood and adulthood UMLS:CN202342|Orphanet:264762 owl:Class MONDO:0006107 biolink:NamedThing benign thyroid gland neoplasm A benign neoplasm arising from the thyroid gland. tmpte7i6ely_mondo_relaxed.owl benign thyroid gland neoplasm|benign thyroid tumor|benign tumor of thyroid gland|thyroid gland benign neoplasm|benign neoplasm of thyroid gland|benign thyroid gland tumor|benign neoplasm of thyroid|benign tumor of the thyroid gland|benign neoplasm of the thyroid gland|benign tumor of the thyroid|benign thyroid neoplasm|thyroid neoplasm, benign|benign tumor of thyroid|benign neoplasm of the thyroid|benign neoplasm of thyroid glands SCTID:92439006|NCIT:C3628|ICD9:226|EFO:1000122|UMLS:C0154038 owl:Class MONDO:0043240 biolink:NamedThing hemophilic arthropathy A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space. tmpte7i6ely_mondo_relaxed.owl arthropathy in hemophilia|hemophilic arthritis|hemophilic arthropathy UMLS:C0263725|SCTID:80813006|NCIT:C27039|GARD:0006592 owl:Class SO:0001877 biolink:NamedThing lncRNA A non-coding RNA over 200nucleotides in length. tmpte7i6ely_mondo_relaxed.owl long non-coding RNA|lncRNA_transcript|INSDC_feature:ncRNA|INSDC_qualifier:lncRNA owl:Class SO:0000655 biolink:NamedThing ncRNA An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product. tmpte7i6ely_mondo_relaxed.owl INSDC_qualifier:other|known_ncrna|noncoding RNA owl:Class CL:0001030 biolink:NamedThing CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor tmpte7i6ely_mondo_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1111100)(PMID:19243617). cell owl:Class CL:0001060 biolink:NamedThing hematopoietic oligopotent progenitor cell, lineage-negative A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-01-06T03:43:27Z cell owl:Class NCBITaxon:5654 biolink:NamedThing Trypanosomatidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014229 biolink:NamedThing microphthalmia, syndromic 12 Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. tmpte7i6ely_mondo_relaxed.owl microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects|syndromic microphthalmia caused by mutation in RARB|syndromic microphthalmia-12|RARB syndromic microphthalmia|microphthalmia, syndromic type 12|microphthalmia, syndromic 12|MCOPS12 OMIM:615524|Orphanet:2470|GARD:0013235|UMLS:C3809803 https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 owl:Class HGNC:451 biolink:NamedThing AMACR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009715 biolink:NamedThing stomodeal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003706 biolink:NamedThing adult brainstem astrocytoma tmpte7i6ely_mondo_relaxed.owl adult brain stem astrocytoma|adult brainstem astrocytoma UMLS:C1332191|NCIT:C6954|DOID:5922 owl:Class MONDO:0003153 biolink:NamedThing adult brainstem glioma A brain stem glioma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl glioma of adult brain stem|adult brainstem glioma|brain stem glioma|brain stem glioma of adults|glioma of the adult brain stem|adult brainstem neuroglial neoplasm|adult brain stem glioma|adult brainstem neuroglial tumor UMLS:C0278873|DOID:4813|NCIT:C9091 owl:Class CL:0000293 biolink:NamedThing structural cell A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0021666 biolink:NamedThing ear infection A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. tmpte7i6ely_mondo_relaxed.owl otitis|Ear infection NCIT:C27193|UMLS:C0699744|MESH:D010031 owl:Class GO:0007320 biolink:NamedThing insemination The introduction of semen or sperm into the genital tract of a female. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044706 biolink:NamedThing multi-multicellular organism process A multicellular organism process which involves another multicellular organism of the same or different species. tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000141 biolink:NamedThing 47-year-old human stage Middle aged stage that refers to an adult who is over 47 and under 48. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000851 biolink:NamedThing positive regulation of glucocorticoid secretion Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011215 biolink:NamedThing osteocraniostenosis Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. tmpte7i6ely_mondo_relaxed.owl gracile bone dysplasia|osteocraniostenosis|skeletal dysplasia, lethal, with gracile bones|Osteocraniosplenic syndrome|skeletal dysplasia lethal with gracile bones|Habrodysplasia|GCLEB ICD10:Q78.0|UMLS:C1865639|MESH:C537291|Orphanet:2763|OMIM:602361|SCTID:722109008|GARD:0003396 owl:Class HP:0005506 biolink:NamedThing Chronic myelogenous leukemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. tmpte7i6ely_mondo_relaxed.owl Chronic myelocytic leukemia|Chronic myelocytic leukaemia|Chronic myeloid leukaemia|Chronic myelogenous leukaemia|Chronic myeloid leukemia SNOMEDCT_US:63364005|UMLS:C0023473|SNOMEDCT_US:92818009|DOID:8552|MSH:D015464 HP:0005544 human_phenotype owl:Class HP:0005558 biolink:NamedThing Chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpte7i6ely_mondo_relaxed.owl Chronic blood cancer|Chronic leukaemia SNOMEDCT_US:128933000|UMLS:C1279296|UMLS:C4280478|SNOMEDCT_US:92812005 peter 2008-03-27T10:32:00Z human_phenotype owl:Class NCBITaxon:189359 biolink:NamedThing Xylariales incertae sedis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:67607 ncbi_taxonomy owl:Class MONDO:0011945 biolink:NamedThing Gaucher disease perinatal lethal Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). tmpte7i6ely_mondo_relaxed.owl fetal Gaucher disease|Gaucher's disease perinatal lethal|Gaucher disease, perinatal lethal|Gaucher disease, collodion type|Gaucher disease collodion type|perinatal lethal Gaucher disease|Gaucher disease, perinatal-lethal form|Gaucher disease perinatal lethal Orphanet:355|ICD10:E75.2|DOID:0110960|GARD:0010675|OMIM:608013|UMLS:C1842704|Orphanet:85212|MESH:C564306 https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal owl:Class NCBITaxon:10090 biolink:NamedThing Mus musculus tmpte7i6ely_mondo_relaxed.owl mouse|house mouse GC_ID:1 NCBITaxon:85055 ncbi_taxonomy owl:Class NCBITaxon:862507 biolink:NamedThing Mus tmpte7i6ely_mondo_relaxed.owl Mus GC_ID:1 ncbi_taxonomy owl:Class PATO:0001688 biolink:NamedThing increased elevation An elevation which is relatively high. tmpte7i6ely_mondo_relaxed.owl elevated|high elevation owl:Class GO:0043903 biolink:NamedThing regulation of biological process involved in symbiotic interaction Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association. tmpte7i6ely_mondo_relaxed.owl regulation of interspecies interactions between organisms|regulation of symbiosis, encompassing mutualism through parasitism|regulation of symbiotic process owl:Class MONDO:0017685 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia, type cblDv2 tmpte7i6ely_mondo_relaxed.owl vitamin B12-responsive methylmalonic aciduria, type cblDv2 UMLS:CN203582|ICD10:E71.1|OMIM:277410|Orphanet:308442 owl:Class MONDO:0017214 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). tmpte7i6ely_mondo_relaxed.owl adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria OMIM:277410|SCTID:69614003|OMIM:251100|GARD:0012623|OMIM:251110|ICD10:E71.1|Orphanet:28 https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia owl:Class MONDO:0003561 biolink:NamedThing malignant giant cell tumor of soft parts An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. tmpte7i6ely_mondo_relaxed.owl giant cell malignant fibrous histiocytoma|malignant giant cell tumor of soft parts (morphologic abnormality)|malignant Osteoclastoma|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|malignant giant cell tumor of soft parts|malignant giant cell neoplasm of soft parts|giant cell fibrous histiocytoma NCIT:C8380|UMLS:C0334554|ICDO:9251/3|DOID:5638 owl:Class MONDO:0026720 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 12 tmpte7i6ely_mondo_relaxed.owl MC1DN12|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM:301020 owl:Class CHEBI:24651 biolink:NamedThing hydroxides Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030858 biolink:NamedThing immunodeficiency 75 tmpte7i6ely_mondo_relaxed.owl IMD75|immunodeficiency 75 OMIM:619126 owl:Class MONDO:0023161 biolink:NamedThing viral myocarditis Myocarditis that is caused by an infection with a viral agent. tmpte7i6ely_mondo_relaxed.owl Viral myocarditis|viral myocarditis|Viral Myocarditis UMLS:C0276138|SCTID:89141000|NCIT:C128381 owl:Class MONDO:0015497 biolink:NamedThing hypoglossia/aglossia tmpte7i6ely_mondo_relaxed.owl Orphanet:156212|ICD10:Q38.3 owl:Class UBERON:0003727 biolink:NamedThing intercostal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6610 biolink:NamedThing LIM2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043434 biolink:NamedThing response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpte7i6ely_mondo_relaxed.owl response to peptide hormone stimulus|response to polypeptide hormone stimulus owl:Class GO:1901652 biolink:NamedThing response to peptide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009690 biolink:NamedThing congenital myasthenic syndrome 10 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in DOK7|CMS1B|myasthenic syndrome, congenital, 10|myasthenia, limb-girdle, familial|congenital myasthenic syndrome type IB, formerly|myasthenic myopathy|myasthenic syndrome, congenital, type 10|myasthenic myopathy, formerly|CMS Ib|myasthenia, limb-girdle, familial, formerly|congenital myasthenic syndrome type IB|Cms Ib, formerly|familial limb-girdle myasthenia|Cms Ib|congenital myasthenic syndrome 10|congenital myasthenic syndrome type 10|DOK7 congenital myasthenic syndrome|CMS10|LGM SCTID:230687001|DOID:0110668|Orphanet:590|OMIM:254300|Orphanet:98913|ICD9:358.00 owl:Class UBERON:0001419 biolink:NamedThing skin of limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009098 biolink:NamedThing dextrocardia with unusual facies and microphthalmia tmpte7i6ely_mondo_relaxed.owl dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|dextrocardia with unusual facies and microphthalmia|Aughton syndrome|dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability GARD:0000136|UMLS:C1857298|MESH:C538269|OMIM:221950 https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia owl:Class MONDO:0017172 biolink:NamedThing mucopolysaccharidosis type 6, slowly progressing tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis type VI, slowly progressing|arylsulfatase B deficiency, slowly progressing|MPSVI, slowly progressing|MPS6, slowly progressing Orphanet:276223|ICD10:E76.2|UMLS:CN202601 owl:Class UBERON:0002341 biolink:NamedThing epithelium of segmental bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002724 biolink:NamedThing mast cell neoplasm A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl tumor of Mast cells|tumor of the Mast cells|neoplasm of the Mast cells|Mast cell tumor|mast cell tumor|mast cell neoplasm|Mast cell proliferative disease|neoplasm of Mast cells DOID:3664|EFO:0009000|SCTID:414653009|NCIT:C9295|ICD10:D47.0|ICD9:238.79|UMLS:C0334664 owl:Class MONDO:0010640 biolink:NamedThing Leber optic atrophy, susceptibility to tmpte7i6ely_mondo_relaxed.owl Loas|Lhon, modifier of|Leber optic atrophy, susceptibility to|Leber hereditary optic neuropathy, modifier of Orphanet:104|OMIM:308905 owl:Class MONDO:0021455 biolink:NamedThing benign neoplasm of neck A benign neoplasm that involves the neck. tmpte7i6ely_mondo_relaxed.owl benign tumor of neck|benign neoplasm of the neck|benign neck tumor|benign neck neoplasm|neck benign neoplasm|benign tumor of the neck NCIT:C4884|SCTID:92246000|UMLS:C0684815|ICD9:229.8 owl:Class HP:0020064 biolink:NamedThing Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. tmpte7i6ely_mondo_relaxed.owl 2018-10-17 13:48:52+00:00 robinp human_phenotype owl:Class MONDO:0001763 biolink:NamedThing ethmoid sinus cancer A malignant neoplasm involving the ethmoid sinus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the ethmoid sinus|malignant ethmoid sinus neoplasm|malignant neoplasm of ethmoidal sinus|malignant ethmoid sinus tumor|malignant neoplasm of ethmoid sinus|malignant tumor of the ethmoidal sinus|malignant tumor of the ethmoid sinus|malignant ethmoidal sinus tumor|ethmoid sinus cancer|malignant neoplasm of the ethmoidal sinus|malignant ethmoidal sinus neoplasm|cancer of ethmoid sinus|malignant tumor of ethmoidal sinus|malignant tumor of ethmoid sinus UMLS:C0153477|SCTID:363426009|NCIT:C3541|ICD9:160.3|DOID:1363|ICD10:C31.1 owl:Class MONDO:0001729 biolink:NamedThing active cochlear Meniere disease tmpte7i6ely_mondo_relaxed.owl cochlear active Mnire's disease|active Meniere's disease, cochlear|active cochlear Meniere's disease|active cochlear Meniere disease ICD9:386.02|SCTID:194349005|UMLS:C0155497|DOID:13492 owl:Class MONDO:0025270 biolink:NamedThing toxoplasmosis, non-human animal Acquired infection of non-human animals by organisms of the genus toxoplasma. tmpte7i6ely_mondo_relaxed.owl animal Toxoplasmoses|Toxoplasmoses, animal|animal toxoplasmosis MESH:D014124|UMLS:C0040559 owl:Class NCBITaxon:6269 biolink:NamedThing Anisakis simplex tmpte7i6ely_mondo_relaxed.owl herring worm GC_ID:1 ncbi_taxonomy owl:Class CHEBI:26835 biolink:NamedThing sulfur molecular entity tmpte7i6ely_mondo_relaxed.owl sulfur molecular entities|sulfur molecular entity owl:Class MONDO:0007337 biolink:NamedThing cleft palate-lateral synechia syndrome Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. tmpte7i6ely_mondo_relaxed.owl syngnathia|CPLS syndrome|cleft palate-lateral synechia syndrome|cleft palate lateral synechia syndrome|Cpls syndrome SCTID:403772000|ICD10:Q87.8|Orphanet:2016|ICD9:759.89|DOID:0080313|UMLS:C0795898|GARD:0001391|OMIM:119550|MESH:C563047 https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome owl:Class MONDO:0044746 biolink:NamedThing zoonotic bacterial infection A bacterial infection that is transmitted from animals to people. tmpte7i6ely_mondo_relaxed.owl Bacteria caused zoonoses|Bacteria zoonoses|zoonotic bacterial disease|zoonotic bacterial infection UMLS:C0311376|NCIT:C35373 owl:Class MONDO:0025481 biolink:NamedThing zoonosis An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc). tmpte7i6ely_mondo_relaxed.owl disease, zoonotic|zoonotic infectious diseases|infections, zoonotic|diseases, zoonotic infectious|zoonotic diseases|infectious diseases, zoonotic|disease, zoonotic infectious|zoonotic infectious disease|zoonoses|infection, zoonotic|zoonotic infections|zoonotic disease|infectious disease, zoonotic|zoonotic infection|diseases, zoonotic UMLS:C0043528|MESH:D015047|NCIT:C35803|Wikipedia:Zoonosis owl:Class MONDO:0044981 biolink:NamedThing pseudoallergy tmpte7i6ely_mondo_relaxed.owl pseudoallergy to substance SCTID:609397002|UMLS:C3662273|ICD9:V15.09 owl:Class ENVO:01001216 biolink:NamedThing ultraviolet stellar radiation A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm. tmpte7i6ely_mondo_relaxed.owl ultraviolet solar radiation owl:Class ENVO:21001216 biolink:NamedThing ultraviolet radiation A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm. tmpte7i6ely_mondo_relaxed.owl UV radiation owl:Class MONDO:0008473 biolink:NamedThing spondyloepimetaphyseal dysplasia, Maroteaux type A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome type 2|brachyolmia Maroteaux type|spondyloepiphyseal dysplasia Maroteaux type|SED, Maroteaux type|spondyloepimetaphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome, type 2 Orphanet:263482|UMLS:CN202294|DOID:0111553|OMIM:184095|GARD:0000994|SCTID:719204007|ICD10:Q77.7 https://github.com/monarch-initiative/mondo/issues/2706 owl:Class MONDO:0016909 biolink:NamedThing partial monosomy of the long arm of chromosome 10 tmpte7i6ely_mondo_relaxed.owl partial deletion of the long arm of chromosome 10|partial monosomy of the long arm of chromosome type 10|partial deletion of chromosome 10q|partial monosomy of chromosome 10q Orphanet:262083|ICD10:Q93.5|UMLS:C0795839 owl:Class MONDO:0001778 biolink:NamedThing dermoid cyst of skin A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. tmpte7i6ely_mondo_relaxed.owl dermoid cyst of skin (finding)|cystic skin teratoma|zone of skin dermoid cyst|skin dermoid|dermoid cyst of skin|cutaneous dermoid cyst|skin dermoid cyst|subcutaneous dermoid cyst|dermoid cyst of the skin DOID:13691|NCIT:C4632|SCTID:276729007|UMLS:C0349502 owl:Class HGNC:163 biolink:NamedThing ACTN1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18810 biolink:NamedThing CATSPER2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005546 biolink:NamedThing fibromyalgia A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. tmpte7i6ely_mondo_relaxed.owl fibromyalgia|fibromyalgia syndrome Orphanet:41842|DOID:631|ICD10:M79.7|ICD9:729.1|EFO:0005687|MESH:D005356|ICD10:M79.1|SCTID:203082005|NCIT:C87497|UMLS:C0016053|GARD:0012069 https://github.com/monarch-initiative/mondo/issues/3170 owl:Class MONDO:0003358 biolink:NamedThing anus leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of anus|anus leiomyosarcoma|leiomyosarcoma of the anus|anal leiomyosarcoma NCIT:C5599|UMLS:C1332267|DOID:5267 owl:Class MONDO:0015523 biolink:NamedThing epithelioid hemangioendothelioma A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. tmpte7i6ely_mondo_relaxed.owl epithelioid angioendothelioma|malignant epithelioid hemangioendothelioma|epithelioid hemangioendothelioma|epithelioid angiosarcoma UMLS:C0206732|ICDO:9133/3|ICDO:9130/3|Orphanet:157791|NCIT:C3800|ONCOTREE:EHAE|DOID:0080190|SCTID:54124005|ICD10:D18.0|MESH:D018323|ICDO:9133/1 https://github.com/monarch-initiative/mondo/issues/3741 owl:Class MONDO:0002095 biolink:NamedThing vascular cancer A malignant neoplasm arising from the blood vessels. tmpte7i6ely_mondo_relaxed.owl vasculature cancer|malignant vascular neoplasm|neoplasm of great vessel|vascular tumors|pulmonary artery cancer|renal vein leiomyosarcoma|malignant tumor of pulmonary artery|blood vessel tumors (morphologic abnormality)|blood vessel tumor|malignant tumor of pulmonary vein|blood vessel tumors|pulmonary artery malignant neoplasm|blood vessel neoplasm|blood vessel tumor (morphologic abnormality)|malignant blood vessel tumor|malignant vascular tumor|Haemangiomatous tumour|vascular tissue neoplasm|malignant blood vessel neoplasm|malignant vasculature neoplasm|malignant neoplasm of vasculature|blood vessel tumour disorder|pulmonary vein malignant neoplasm|leiomyosarcoma of the renal vein|cancer of vasculature MESH:D009383|NCIT:C7388|NCIT:C8538|DOID:175 Editor note: see also NCIT:C7390 owl:Class NCIT:C15496 biolink:NamedThing Progesterone Receptor Positive tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100026 biolink:NamedThing myoclonic encephalopathy in non-progressive disorder This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen. tmpte7i6ely_mondo_relaxed.owl 2018-06-22 23:56:39+00:00 owl:Class UBERON:0010032 biolink:NamedThing anterior part of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17328 biolink:NamedThing DTNBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11138 biolink:NamedThing SNCA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020847 biolink:NamedThing intellectual disability, autosomal dominant 58 tmpte7i6ely_mondo_relaxed.owl MENTAL RETARDATION, autosomal dominant 58|MRD58 OMIM:618106 owl:Class HP:0000177 biolink:NamedThing Abnormality of upper lip An abnormality of the upper lip. tmpte7i6ely_mondo_relaxed.owl Deformity of the upper lip|Anomaly of the upper lip|Abnormality of upper lip|Malformation of the upper lip UMLS:C4025884 human_phenotype owl:Class HP:0000159 biolink:NamedThing Abnormal lip morphology An abnormality of the lip. tmpte7i6ely_mondo_relaxed.owl Lip abnormality|Deformity of lip|Malformation of lip|Anomaly of lip|Abnormality of the lip|Abnormal lip UMLS:C2183966 human_phenotype owl:Class UBERON:0005025 biolink:NamedThing mucosa of uvula tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015031 biolink:NamedThing protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl enzyme transport owl:Class UBERON:0003212 biolink:NamedThing gustatory organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003944 biolink:NamedThing endobronchial leiomyoma A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl endobronchial leiomyoma|lung leiomyoma of bronchus|bronchus lung leiomyoma NCIT:C5661|DOID:6608|UMLS:C1333386 owl:Class MONDO:0002892 biolink:NamedThing skull base chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.. tmpte7i6ely_mondo_relaxed.owl chordoma of the skull base|skull base chordoma|chordoma of skull base DOID:4151|NCIT:C5453|UMLS:C1335975 owl:Class CHEBI:61951 biolink:NamedThing microtubule-destabilising agent Any substance that interacts with tubulin to inhibit polymerisation of microtubules. tmpte7i6ely_mondo_relaxed.owl microtubule destabilising agents|microtubule-destabilizing agent|microtubule destabilising role|microtubule-destabilizing agents|microtubule destabilizing role|microtubule destabilising agent|microtubule-destabilising agents owl:Class CHEBI:64911 biolink:NamedThing antimitotic Any compound that inhibits cell division (mitosis). tmpte7i6ely_mondo_relaxed.owl mitotic inhibitor|mitosis inhibitor|mitotic inhibitors|antimitotics|mitosis inhibitors owl:Class ENVO:01000624 biolink:NamedThing hydrological condensation process Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase. tmpte7i6ely_mondo_relaxed.owl condensation owl:Class ENVO:01000724 biolink:NamedThing condensation process Condensation is a process during which a gas undergoes a phase transition into a liquid. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015381 biolink:NamedThing commissural lip fistula A cysts and fistulae of the face and oral cavity that involves the labial commissure. tmpte7i6ely_mondo_relaxed.owl cysts and fistulae of the face and oral cavity of labial commissure|labial commissure cysts and fistulae of the face and oral cavity ICD10:Q38.0|Orphanet:141061 owl:Class MONDO:0006462 biolink:NamedThing thyroid gland diffuse large B-cell lymphoma A diffuse large B-cell lymphoma primarily involving the thyroid gland. tmpte7i6ely_mondo_relaxed.owl thyroid gland diffuse large B-cell lymphoma|primary thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of thyroid gland|diffuse large B-cell lymphoma of the thyroid gland|diffuse large B-cell lymphoma of the thyroid|diffuse large B-cell lymphoma of thyroid|thyroid diffuse large B-cell lymphoma EFO:1000587|NCIT:C6046|UMLS:C1336749 owl:Class MONDO:0019953 biolink:NamedThing mega-cisterna magna tmpte7i6ely_mondo_relaxed.owl Orphanet:97252|ICD10:Q07.8 owl:Class HGNC:18550 biolink:NamedThing IER3IP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035131 biolink:NamedThing auditory ossicle cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011977 biolink:NamedThing epiphysis of proximal phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13243 biolink:NamedThing LMBR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044098 biolink:NamedThing ovarian ectopic pregnancy An abnormal pregnancy in which the conception is implanted on the ovary. tmpte7i6ely_mondo_relaxed.owl ovary ectopic pregnancy|ectopic pregnancy of ovary|ovarian pregnancy|ovarian Pregnancies|Pregnancies, ovarian SCTID:9899009|MESH:D065172|NCIT:C92945 owl:Class MONDO:0000755 biolink:NamedThing ectopic pregnancy An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. tmpte7i6ely_mondo_relaxed.owl extrauterine pregnancy|pregnancy, ectopic|eccyesis GARD:0006318|DOID:0060329|MESH:D011271|SCTID:34801009|ICD9:633.8|NCIT:C34945|ICD10:O00|ICD9:633.9|ICD9:633|ICD9:633.90|ICD10:O00.9 https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy owl:Class UBERON:0001754 biolink:NamedThing dental pulp tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001115 biolink:NamedThing left lobe of liver tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006938 biolink:NamedThing pinna surface epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903295 biolink:NamedThing negative regulation of glutamate secretion, neurotransmission Any process that stops, prevents or reduces the frequency, rate or extent of glutamate secretion, neurotransmission. tmpte7i6ely_mondo_relaxed.owl downregulation of glutamate secretion, neurotransmission|down-regulation of glutamate secretion, neurotransmission|inhibition of glutamate secretion, neurotransmission|down regulation of glutamate secretion, neurotransmission owl:Class GO:0014050 biolink:NamedThing negative regulation of glutamate secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of glutamate. tmpte7i6ely_mondo_relaxed.owl downregulation of glutamate secretion|inhibition of glutamate secretion|down regulation of glutamate secretion|down-regulation of glutamate secretion owl:Class HGNC:7601 biolink:NamedThing MYO3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010789 biolink:NamedThing MELAS syndrome MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. tmpte7i6ely_mondo_relaxed.owl mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|MELAS|mitochondrial encephalomyopathy, lactic acidosis and stroke|MELAS syndrome|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Orphanet:550|DOID:3687|NCIT:C84885|ICD9:277.87|ICD10:G71.3|MESH:D017241|UMLS:C0162671|GARD:0007009|MedDRA:10053872|ICD10:E88.41|OMIM:540000|SCTID:39925003 owl:Class UBERON:0015019 biolink:NamedThing rib endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030323 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 31 tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 31|SCAR31 OMIM:619422 owl:Class MONDO:0018048 biolink:NamedThing heparin-induced thrombocytopenia Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis. tmpte7i6ely_mondo_relaxed.owl HAT|heparin-induced thrombocytopenia type 2|heparin-induced thrombocytopenia|HIT|heparin-induced thrombocytopenia (disease)|heparin-associated thrombocytopenia heparin-induced thrombocytopenia (disease) GARD:0002650|ICD10:D69.5|ICD9:289.84|Orphanet:3325|UMLS:C0272285|HP:0011874|SCTID:73397007|MedDRA:10062506 owl:Class ENVO:01001227 biolink:NamedThing aquatic natural environment A natural environment which is within a water body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006223 biolink:NamedThing gastric diffuse large B-cell lymphoma An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach. tmpte7i6ely_mondo_relaxed.owl primary diffuse large B-cell lymphoma of stomach|primary diffuse large B-cell gastric lymphoma|primary gastric diffuse large B-cell lymphoma|gastric diffuse large B-cell lymphoma|primary diffuse large B-cell lymphoma of the stomach EFO:1000270|UMLS:C1335483|NCIT:C5253 owl:Class HP:0012888 biolink:NamedThing Abnormality of the uterine cervix An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022694 hecht 2014-06-11T09:40:02Z human_phenotype owl:Class HP:0000130 biolink:NamedThing Abnormality of the uterus An abnormality of the uterus. tmpte7i6ely_mondo_relaxed.owl Uterine malformations|Abnormality of the uterus|Uterine abnormalities MSH:C562565|UMLS:C0266383|SNOMEDCT_US:37849005 HP:0008692|HP:0008630 human_phenotype owl:Class MONDO:0016312 biolink:NamedThing 5-fluorouracil poisoning 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. tmpte7i6ely_mondo_relaxed.owl 5-fluorouracil intoxication ICD10:T45.1|MESH:C531667|UMLS:CN201128|Orphanet:217064 owl:Class MONDO:0018438 biolink:NamedThing eosinophilic gastrointestinal disease tmpte7i6ely_mondo_relaxed.owl primary eosinophilic gastrointestinal disease|EGID Orphanet:402029|ICD10:K52.8|UMLS:CN226154 owl:Class MONDO:0017164 biolink:NamedThing hemolytic disease of the newborn with Kell alloimmunization tmpte7i6ely_mondo_relaxed.owl maternal anti-Kell alloimmunization|anti-K HDN ICD10:P55.8|UMLS:CN202586|Orphanet:275944 owl:Class MONDO:0003399 biolink:NamedThing pineal region yolk sac tumor A yolk sac tumor that involves the pineal body. tmpte7i6ely_mondo_relaxed.owl endodermal sinus tumor of the pineal region|pineal region yolk sac tumor|pineal endodermal sinus neoplasm|yolk Sac tumor of the pineal region|endodermal sinus tumor of pineal region|pineal region yolk Sac neoplasm|pineal endodermal sinus tumor|pineal body yolk sac tumor|pineal region endodermal sinus tumor|yolk Sac tumor of pineal region|pineal region endodermal sinus neoplasm NCIT:C6752|DOID:5341|UMLS:C1335420 owl:Class OBO:MFOMD_0000001 biolink:NamedThing mental disease A disease which is a disposition to undergo pathological mental processes. tmpte7i6ely_mondo_relaxed.owl mental health condition The Mental Disease ontology follows the strategy of the Ontology of General Medical Science in distinguishing mental disease, mental disorder, diagnosis of mental disease, mental disease course and pathological mental process as separately distinguishable entities. Here is a quick guide to how these terms are used in this ontology. A mental disease is an underlying disposition to pathological mental processes. A mental disease course is the sum of the pathological mental processes that are caused by the underlying disease. A pathological mental process is a pathological process caused by a mental disease. A mental disorder is a physical disorder, for example, dysfunctional neurotransmitter receptors, altered brain connectivity, missing or damaged brain parts etc. The disorder is the material basis for the disease and it is by virtue of the disorder that the disease causes the pathological processes that form part of the disease course. A diagnosis of a mental disease is a clinician's statement that a patient has a mental disease by virtue of observable manifestations of that disease, such as behaviour, observable aspects of the underlying disorder, or self-reported experiences. http://www.jbiomedsem.com/content/1/1/10 owl:Class IAO:0000027 biolink:NamedThing data item An information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.|a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. tmpte7i6ely_mondo_relaxed.owl data item owl:Class MONDO:0021378 biolink:NamedThing neoplasm of endocardium A neoplasm (disease) that involves the endocardium. tmpte7i6ely_mondo_relaxed.owl endocardium neoplasm (disease)|tumor of the endocardium|endocardial tumor|endocardial neoplasm|neoplasm of the endocardium|endocardium neoplasm|neoplasm of endocardium|endocardium tumor|tumor of endocardium UMLS:C1290401|SCTID:126731002|ICD9:239.89|NCIT:C5346 owl:Class MONDO:0010271 biolink:NamedThing X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. tmpte7i6ely_mondo_relaxed.owl myotubular myopathy with abnormal genital development|Xq28 contiguous gene deletion syndrome MESH:C564561|UMLS:C1846169|Orphanet:456328|OMIM:300219 owl:Class MONDO:0004373 biolink:NamedThing adult papillary meningioma A papillary meningioma occurring in adults. tmpte7i6ely_mondo_relaxed.owl papillary meningioma of adults|papillary meningioma|adult papillary meningioma UMLS:C0281334|DOID:7826|NCIT:C8293 owl:Class MONDO:0003262 biolink:NamedThing rhabdoid meningioma A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. tmpte7i6ely_mondo_relaxed.owl papillary meningioma|meningioma, rhabdoid (morphologic abnormality)|rhabdoid meningioma|meningioma, rhabdoid|papillary meningioma (morphologic abnormality) UMLS:C0259786|NCIT:C6909|ONCOTREE:RHM|DOID:5058 owl:Class HGNC:9153 biolink:NamedThing PNKD tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002437 biolink:NamedThing cerebral hemisphere white matter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011299 biolink:NamedThing white matter of telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002333 biolink:NamedThing splenic abscess An abscess that is located in the spleen. tmpte7i6ely_mondo_relaxed.owl splenic abscess (disease)|splenic abscess splenic abscess (disease) ICD10:D73.3|NCIT:C35347|ICD9:289.59|DOID:2530|HP:0025059|SCTID:82053000|UMLS:C0272412 owl:Class GO:0070256 biolink:NamedThing negative regulation of mucus secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl negative regulation of mucus production owl:Class MONDO:0005478 biolink:NamedThing torsades de pointes A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. tmpte7i6ely_mondo_relaxed.owl MESH:D016171|HP:0001664|UMLS:C0040479|SCTID:31722008|EFO:0005307 owl:Class CL:0002608 biolink:NamedThing hippocampal neuron A neuron of the hippocampus. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T07:31:49Z cell owl:Class CL:0000117 biolink:NamedThing CNS neuron (sensu Vertebrata) tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0008324 biolink:NamedThing cation transmembrane transporter activity Enables the transfer of cation from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl transmembrane cation transporter activity owl:Class MONDO:0001117 biolink:NamedThing methemoglobinemia An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. tmpte7i6ely_mondo_relaxed.owl methemoglobinemias UMLS:C0025637|MESH:D008708|NCIT:C34817|ICD10:D74.9|ICD10:D74|SCTID:38959009|DOID:10783|ICD9:289.7 owl:Class GO:0000098 biolink:NamedThing sulfur amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine. tmpte7i6ely_mondo_relaxed.owl sulfur amino acid breakdown|sulphur amino acid catabolism|sulfur amino acid degradation|sulfur amino acid catabolism|sulphur amino acid catabolic process owl:Class NCBITaxon:43733 biolink:NamedThing Muscomorpha tmpte7i6ely_mondo_relaxed.owl Asilomorpha GC_ID:1 NCBITaxon:43732 ncbi_taxonomy owl:Class NCBITaxon:7203 biolink:NamedThing Brachycera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11908 biolink:NamedThing Human T-cell leukemia virus type I tmpte7i6ely_mondo_relaxed.owl human T-cell leukemia virus type 1 HTLV-1|Human adult T-cell leukemia virus|Human T-cell lymphotropic virus type I|human T-lymphotropic virus type I HTLV-I|human T-lymphotropic virus type 1 HTLV-1|human T-cell leukemia virus I|human T-cell leukemia/lymphoma virus type I HTLV-I|human T-cell lymphotropic virus type 1, HTLV-1|Human T-cell leukemia virus type 1|human T-cell lymphoma/leukemia virus type I HTLV-I|HTLV-1|Human T-cell lymphotropic virus type 1|human T-cell leukemia/lymphotropic virus type I HTLV-I|Human T-cell leukemia virus-1|HTLV-I|Human T-cell leukemia virus type I HTLV-I|Human T-lymphotropic virus 1|Human T-cell lymphotropic virus 1|human T cell lymphotropic virus type I HTLV-I|human T cell leukemia virus type 1 HTLV-1|Human lymphotropic virus type I|Human T-lymphotropic virus type 1|Human T cell leukemia virus type 1 GC_ID:1 NCBITaxon:28331 ncbi_taxonomy owl:Class MONDO:0004290 biolink:NamedThing subglottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx. tmpte7i6ely_mondo_relaxed.owl subglottic verrucous carcinoma|verrucous carcinoma of subglottis|subglottis verrucous carcinoma|verrucous carcinoma of the subglottis DOID:7584|UMLS:C0280330|NCIT:C8190 owl:Class MONDO:0006255 biolink:NamedThing intimal sarcoma A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl INTS NCIT:C53677|UMLS:C1708550|ONCOTREE:INTS|EFO:1000305 owl:Class MONDO:0002927 biolink:NamedThing spindle cell sarcoma A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. tmpte7i6ely_mondo_relaxed.owl spindle cell sarcoma NCIT:C27005|DOID:4235|UMLS:C0205945|ICDO:8801/3|MESH:D012509 owl:Class CHEBI:24870 biolink:NamedThing ion A molecular entity having a net electric charge. tmpte7i6ely_mondo_relaxed.owl Ion|ion|Ionen|iones|ions owl:Class MONDO:0012892 biolink:NamedThing bone fragility with contractures, arterial rupture, and deafness A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. tmpte7i6ely_mondo_relaxed.owl connective tissue disorder due to lysyl hydroxylase-3 deficiency|bone fragility-contractures-arterial rupture-deafness syndrome|lysyl Hydroxylase 3 deficiency|LH3 deficiency|connective tissue disorder due to LH3 deficiency|bone fragility with contractures, arterial rupture, and deafness Orphanet:300284|MESH:C567320|UMLS:C2676285|OMIM:612394|SCTID:763318007 owl:Class CL:2000074 biolink:NamedThing splenocyte Any leukocyte that is part of a spleen. tmpte7i6ely_mondo_relaxed.owl Splenocytes is a vague term that refers to any one of the different white blood cell types in the spleen. This name is seen many references as such and is not explained further, necessitating a need for this terminology. TermGenie 2014-11-05T01:26:50Z cell owl:Class MONDO:0000990 biolink:NamedThing acute subendocardial myocardial infarction Acute form of subendocardial myocardial infarction. tmpte7i6ely_mondo_relaxed.owl subendocardial infarction acute myocardial infarction|acute nontransmural infarction|subendocardial myocardial infarction, acute|acute subendocardial infarction ICD9:410.72|SCTID:70422006|ICD9:410.7|ICD9:410.70|UMLS:C0264710|DOID:10266|ICD9:410.71 owl:Class MONDO:0007184 biolink:NamedThing alopecia, androgenetic, 1 tmpte7i6ely_mondo_relaxed.owl baldness, Male pattern|alopecia, androgenetic, 1|AGA1 OMIM:109200 owl:Class MONDO:0005339 biolink:NamedThing androgenetic alopecia tmpte7i6ely_mondo_relaxed.owl alopecia androgenetica, male pattern baldness|androgenetic alopecia|male pattern baldness|androgenic alopecia OMIM:109200|OMIM:612421|OMIM:300710|EFO:0004191|DOID:0050801|ICD9:704.09|SCTID:87872006|GARD:0009269 owl:Class MONDO:0022510 biolink:NamedThing atlanto-axial fusion tmpte7i6ely_mondo_relaxed.owl atlantoaxial joint fusion|atlantoaxial fusion MESH:C538196|GARD:0009219 https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion owl:Class MONDO:0010794 biolink:NamedThing NARP syndrome Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. tmpte7i6ely_mondo_relaxed.owl neuropathy ataxia retinitis pigmentosa syndrome|neuropathy, ataxia, and retinitis pigmentosa|NARP|neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|NARP syndrome GARD:0000262|OMIM:551500|ICD10:G31.8|MedDRA:10062940|DOID:0111273|UMLS:C1328349|MESH:C537396|Orphanet:644 owl:Class NCBITaxon:6296 biolink:NamedThing Onchocercidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:6297|NCBITaxon:33297 ncbi_taxonomy owl:Class NCBITaxon:6295 biolink:NamedThing Filarioidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003517 biolink:NamedThing mature teratoma A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. tmpte7i6ely_mondo_relaxed.owl mature teratoma DOID:5566|ONCOTREE:VMT|ICDO:9080/0|SCTID:254875009|NCIT:C9015|UMLS:C1368910 owl:Class UBERON:0008203 biolink:NamedThing pelvic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016457 biolink:NamedThing ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Orphanet:228396|UMLS:CN201421|ICD10:Q87.0 owl:Class MONDO:0014526 biolink:NamedThing polyglucosan body myopathy type 2 Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene. tmpte7i6ely_mondo_relaxed.owl GYG1 polyglucosan body myopathy|polyglucosan body myopathy type 2|polyglucosan body myopathy 2|PGBM2|polyglucosan body myopathy caused by mutation in GYG1 OMIM:616199|ICD10:E74.0|Orphanet:456369|UMLS:C4015452 owl:Class HP:0012418 biolink:NamedThing Hypoxemia An abnormally low level of blood oxygen. tmpte7i6ely_mondo_relaxed.owl Hypoxia|Low blood oxygen level SNOMEDCT_US:389087006|MSH:D000860|UMLS:C0700292 Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:07:07Z human_phenotype owl:Class HP:0500165 biolink:NamedThing Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. tmpte7i6ely_mondo_relaxed.owl Abnromal O2 blood concentration|Abnormal blood oxygen levels|Abnormal blood O2 level 2018-10-17 15:14:35+00:00 http://orcid.org/0000-0001-7941-2961 human_phenotype owl:Class MONDO:0010056 biolink:NamedThing spinal muscular atrophy, type IV Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, type IV|SMA type 4|spinal muscular atrophy type 4|SMA4|SMA type IV|spinal muscular atrophy, proximal, adult, autosomal recessive|spinal muscular atrophy, adult form|adult-onset spinal muscular atrophy|SMA-IV|proximal spinal muscular atrophy type 4|SMA 4|spinal muscular atrophy, type 4|adult spinal muscular atrophy|spinal muscular atrophy of adults|spinal muscular atrophy 4 ICD9:335.19|ICD10:G12.1|Orphanet:70|GARD:0000564|OMIM:271150|SCTID:85505000|DOID:0050529|Orphanet:83420 owl:Class MONDO:0012933 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 2 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. tmpte7i6ely_mondo_relaxed.owl BRCA2 hereditary breast ovarian cancer syndrome|BROVCA2|breast-ovarian cancer, familial, susceptibility to, type 2|breast-ovarian cancer, familial, susceptibility to, 2|breast cancer, familial, susceptibility to, 2|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|ovarian cancer, familial, susceptibility to, 2|susceptibility to familial breast-ovarian cancer 2 Orphanet:145|OMIM:612555|Orphanet:227535 owl:Class MONDO:0001979 biolink:NamedThing dumping syndrome A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. tmpte7i6ely_mondo_relaxed.owl jejunal syndrome|dumping (jejunal) syndrome MESH:D004377|ICD10:K91.1|DOID:14495|SCTID:80193009|UMLS:C0013288|NCIT:C2994|EFO:1001307 owl:Class UBERON:0010565 biolink:NamedThing manual digit 1 metacarpus pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24564 biolink:NamedThing C2CD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013899 biolink:NamedThing Weill-Marchesani syndrome 3 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene. tmpte7i6ely_mondo_relaxed.owl WMS3|Weill-Marchesani syndrome type 3|Weill-Marchesani syndrome 3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome caused by mutation in LTBP2 Orphanet:3449|UMLS:C3553785|OMIM:614819 owl:Class MONDO:0004232 biolink:NamedThing large cell keratinizing variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization. tmpte7i6ely_mondo_relaxed.owl squamous cell breast carcinoma, large cell keratinizing variant NCIT:C40357|UMLS:C1519486|DOID:7461 owl:Class MONDO:0018315 biolink:NamedThing X-linked osteoporosis with fractures tmpte7i6ely_mondo_relaxed.owl ICD10:M80.5|Orphanet:391330 owl:Class MONDO:0005298 biolink:NamedThing osteoporosis A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). tmpte7i6ely_mondo_relaxed.owl osteoporosis, involutional|fracture, hip, susceptibility to ICD10:M81|GARD:0011932|ICD9:733.00|OMIM:166710|SCTID:64859006|ICD9:733.0|ICD10:M81.0|MESH:D015663|NCIT:C3298|MESH:D010024|EFO:0003882|ICD9:733.09|DOID:11476|UMLS:C0029458 owl:Class MONDO:0012346 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 4 tmpte7i6ely_mondo_relaxed.owl Gefs+, type 4|generalized epilepsy with febrile seizures plus, type 4|GEFSP4 MESH:C565227|Orphanet:36387|OMIM:609800|DOID:0111293|UMLS:C1853345 owl:Class MONDO:0018810 biolink:NamedThing lethal hydranencephaly-diaphragmatic hernia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. tmpte7i6ely_mondo_relaxed.owl Orphanet:480528|UMLS:CN776878 owl:Class MONDO:0043139 biolink:NamedThing microcephaly sparse hair intellectual disability seizures tmpte7i6ely_mondo_relaxed.owl GARD:0003633|MESH:C537545|UMLS:C2931530 owl:Class MONDO:0002648 biolink:NamedThing mammary Paget disease A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur. tmpte7i6ely_mondo_relaxed.owl Paget cell neoplasm|mammary Paget's disease|breast Paget disease|Paget disease of the breast|Paget's disease of breast|Paget's disease of the breast|mammary Paget disease ICDO:8540/3|UMLS:CN200478|NCIT:C47857|DOID:3443 owl:Class MONDO:0009401 biolink:NamedThing hyperprolinemia type 2 Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. tmpte7i6ely_mondo_relaxed.owl HYRPRO2|ALDH4A1 hyperprolinemia|hyperprolinemia type 2|delta1-pyrroline-5-carboxylate dehydrogenase deficiency|1-pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia, type II|type 2 hyperprolinemia|HPII|hyperprolinemia, type 2|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia caused by mutation in ALDH4A1 SCTID:717181004|MESH:C538385|DOID:0080543|ICD10:E72.5|GARD:0006710|UMLS:C2931835|MedDRA:10058514|Orphanet:79101|MedDRA:10058512|OMIM:239510 https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 owl:Class MONDO:0023419 biolink:NamedThing hyperprolinemia Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. tmpte7i6ely_mondo_relaxed.owl proline hydrogenase deficiency|hyperprolinemia type 1|proline oxidase deficiency Orphanet:419|OMIM:239500|SCTID:59655002|GARD:0002847|DOID:0080541|UMLS:C0268528|ICD9:270.8 https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia owl:Class MONDO:0009188 biolink:NamedThing epilepsy-telangiectasia syndrome Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl epilepsy telangiectasia|mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|epilepsy-telangiectasia|intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency OMIM:226850|Orphanet:1951|GARD:0002168|ICD10:G40.8|MESH:C535497|UMLS:C1856929 owl:Class MONDO:0021483 biolink:NamedThing benign neoplasm of frontal sinus A benign neoplasm that involves the frontal sinus. tmpte7i6ely_mondo_relaxed.owl benign frontal sinus neoplasm|benign tumor of the frontal sinus|benign frontal sinus tumor|frontal sinus benign neoplasm|benign tumor of frontal sinus|benign neoplasm of the frontal sinus UMLS:C0345674|ICD9:212.0|SCTID:92115005|NCIT:C4420 owl:Class UBERON:0003526 biolink:NamedThing respiratory system capillary tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051589 biolink:NamedThing negative regulation of neurotransmitter transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl inhibition of neurotransmitter transport|downregulation of neurotransmitter transport|down regulation of neurotransmitter transport|down-regulation of neurotransmitter transport owl:Class GO:0106064 biolink:NamedThing regulation of cobalamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010728 biolink:NamedThing SCARF syndrome SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. tmpte7i6ely_mondo_relaxed.owl SCARF syndrome|skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities OMIM:312830|MESH:C536625|GARD:0000247|SCTID:734173003|UMLS:C1839321|ICD10:Q82.8|Orphanet:3134 owl:Class MONDO:0004034 biolink:NamedThing eye lymphoma A lymphoma that involves the eye. tmpte7i6ely_mondo_relaxed.owl eye lymphoma|eyeball of camera-type eye lymphoma|primary eye lymphoma|lymphoma of eyeball of camera-type eye DOID:6903|UMLS:C1333519|NCIT:C35690 owl:Class MONDO:0054560 biolink:NamedThing anauxetic dysplasia 1 tmpte7i6ely_mondo_relaxed.owl anauxetic dysplasia 1|spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia, anauxetic type|spondyloepimetaphyseal dysplasia, anauxetic type|anauxetic dysplasia|ANXD1 OMIM:607095 owl:Class MONDO:0003195 biolink:NamedThing peritoneal serous adenocarcinoma A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary. tmpte7i6ely_mondo_relaxed.owl primary peritoneal serous adenocarcinoma|peritoneum serous adenocarcinoma DOID:4901 owl:Class MONDO:0016777 biolink:NamedThing inhalational botulism Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). tmpte7i6ely_mondo_relaxed.owl inhalation botulism ICD10:A05.1|UMLS:C1443900|SCTID:409562009|Orphanet:254504 owl:Class MONDO:0008544 biolink:NamedThing tetramelic monodactyly Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl tetramelic monodactyly with autosomal dominant inheritance|Sommer Hines syndrome|Sommer-Hines syndrome|tetramelic monodactyly UMLS:C1861233|Orphanet:2564|ICD10:Q73.8|MESH:C566066|GARD:0003707|OMIM:187510 https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly owl:Class MONDO:0006068 biolink:NamedThing ACTH-producing pituitary gland adenoma An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. tmpte7i6ely_mondo_relaxed.owl adrenocorticotropin producing adenoma of pituitary gland|corticotroph adenoma|Corticotropinoma|ACTH-secreting adenoma of the pituitary|adrenocorticotropin producing adenoma of the pituitary|ACTH-secreting adenoma of pituitary gland|ACTH-producing pituitary gland adenoma|adrenocorticotropin secreting adenoma of pituitary|ACTH-secreting adenoma of the pituitary gland|ACTH-secreting adenoma of pituitary|adrenocorticotropin secreting pituitary gland adenoma|corticotropin secreting pituitary gland adenoma|adrenocorticotropin secreting adenoma of the pituitary|ACTH-producing pituitary adenoma|pituitary gland ACTH-secreting adenoma|ACTHoma|adrenocorticotropin producing pituitary gland adenoma|corticotropic adenoma|pituitary ACTH secreting adenoma|ACTH secreting adenoma of the pituitary|adrenocorticotropin secreting pituitary adenoma|adrenocorticotropin secreting adenoma of pituitary gland|adrenocorticotropin producing adenoma of pituitary|adrenocorticotropin secreting adenoma of the pituitary gland|ACTH secreting adenoma of pituitary|corticotropin secreting adenoma of the pituitary|pituitary corticotropin secreting adenoma|adrenocorticotropin producing pituitary adenoma|ACTH producing pituitary gland adenoma|pituitary ACTH-secreting adenoma|adrenocorticotropin producing adenoma of the pituitary gland UMLS:C1306214|EFO:1000066|NCIT:C7462 owl:Class MONDO:0014286 biolink:NamedThing neuropathy, hereditary sensory, type 1F Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene. tmpte7i6ely_mondo_relaxed.owl ATL3 hereditary sensory and autonomic neuropathy type 1|HSN 1F|hereditary sensory neuropathy type IF|neuropathy, hereditary sensory, type 1F|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|HSN1F|neuropathy, hereditary sensory, type IF|hereditary sensory neuropathy type 1F OMIM:615632|DOID:0070154|Orphanet:36386|UMLS:C3810194 owl:Class MONDO:0001606 biolink:NamedThing central nervous system leukemia Leukemia infiltrating the central nervous system structures. tmpte7i6ely_mondo_relaxed.owl CNS leukemia|central nervous system leukemia|leukemia of the CNS|leukemia of central nervous system|leukemia (disease) of central nervous system|central nervous system leukemia (disease)|leukemia of the central nervous system|leukemia of CNS NCIT:C5440|UMLS:C1332884|DOID:12969 owl:Class MONDO:0003621 biolink:NamedThing small intestinal vasoactive intestinal peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. tmpte7i6ely_mondo_relaxed.owl small intestinal VIP-producing neuroendocrine tumor|small intestinal VIP producing tumor|small intestinal vasoactive intestinal peptide producing tumor|small intestinal VIP-producing NET|small intestinal VIPoma NCIT:C27455|DOID:5740|UMLS:C1336009 owl:Class MONDO:0008853 biolink:NamedThing Barber-Say syndrome Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. tmpte7i6ely_mondo_relaxed.owl Barber Say syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia|hypertrichosis atrophic skin ectropion macrostomia|BBRSAY|Barber-Say syndrome|Bss|BARBER-SAY syndrome|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome GARD:0000819|Orphanet:1231|OMIM:209885|ICD10:Q87.0|SCTID:408537003|DOID:0060549|UMLS:C1319466|MESH:C537908 https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome owl:Class HGNC:8064 biolink:NamedThing NUP214 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012864 biolink:NamedThing Abnormal sperm morphology A structural anomaly of sperm. tmpte7i6ely_mondo_relaxed.owl Teratospermia|Abnormal shape of sperm|Teratozoospermia UMLS:C0403824|SNOMEDCT_US:236817003|MSH:D000072660 hecht 2014-06-09T10:07:03Z human_phenotype owl:Class HP:0012863 biolink:NamedThing Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022703 hecht 2014-06-09T10:05:33Z human_phenotype owl:Class MONDO:0018483 biolink:NamedThing secondary pulmonary alveolar proteinosis A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency. tmpte7i6ely_mondo_relaxed.owl SPAP|secondary PAP UMLS:C3873302|SCTID:707510005|Orphanet:420259|ICD10:J84.0 Editor note: TODO DP for secondary diseases owl:Class MONDO:0017034 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood tmpte7i6ely_mondo_relaxed.owl secondary ILD in childhood and adulthood UMLS:CN202346|Orphanet:264944 owl:Class MONDO:0013608 biolink:NamedThing Joubert syndrome 13 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene. tmpte7i6ely_mondo_relaxed.owl TCTN1 Joubert syndrome|Joubert syndrome caused by mutation in TCTN1|Joubert syndrome 13|Joubert syndrome type 13|JBTS13 OMIM:614173|DOID:0110982|Orphanet:475|UMLS:C3280031 owl:Class MONDO:0011649 biolink:NamedThing AVSD 1 tmpte7i6ely_mondo_relaxed.owl atrioventricular septal defect|atrioventricular septal defect, susceptibility to, 1|AVC defect|atrioventricular canal defect|endocardial cushion defect|AVSD OMIM:606215|Orphanet:98722 owl:Class MONDO:0016281 biolink:NamedThing 46,XX ovotesticular disorder of sex development 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. tmpte7i6ely_mondo_relaxed.owl ovotesticular differences of Sex development|true hermaphroditism|ovotesticular DSD|ovotesticular disorders of Sex development|46,XX ovotesticular DSD MESH:D050090|SCTID:18978002|UMLS:CN776920|OMIM:400045|ICD10:Q56.0|Orphanet:2138|UMLS:C2748895|NCIT:C127167 owl:Class PATO:0001593 biolink:NamedThing decreased curvature A curvature which is relatively low. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000406 biolink:NamedThing curved A curvature quality inhering in a bearer by virtue of the bearer's having or being marked by a curve or smoothly rounded bend. tmpte7i6ely_mondo_relaxed.owl bowing|curled owl:Class MONDO:0008729 biolink:NamedThing congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. tmpte7i6ely_mondo_relaxed.owl adrenal hyperplasia, hypertensive form|P450C11B1 deficiency|adrenal hyperplasia hypertensive form|CYP11B1 deficiency|adrenal hyperplasia IV|steroid 11-Beta-Hydroxylase deficiency|adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|adrenal hyperplasia 4|CAH due to 11-beta-hydroxylase deficiency|11-Beta-Hydroxylase deficiency NCIT:C131085|ICD10:E25.0|SCTID:124214007|UMLS:C0268292|MedDRA:10000002|Orphanet:90795|Orphanet:418|GARD:0005658|OMIM:202010|MESH:C535978|ICD9:277.6 owl:Class MONDO:0009328 biolink:NamedThing hemangiomatosis, cutaneous, with associated features tmpte7i6ely_mondo_relaxed.owl hemangiomatosis, cutaneous, with associated features UMLS:C0220738|MESH:C562438|OMIM:234800 owl:Class MONDO:0014305 biolink:NamedThing hereditary spastic paraplegia 63 An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2|autosomal recessive spastic paraplegia 63|spastic paraplegia 63, autosomal recessive|hereditary spastic paraplegia type 63|SPG63|AMPD2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia type 63 DOID:0110814|SCTID:726610000|ICD10:G11.4|OMIM:615686|Orphanet:401805|UMLS:C3810295 owl:Class CHEBI:33856 biolink:NamedThing aromatic amino acid An amino acid whose structure includes an aromatic ring. tmpte7i6ely_mondo_relaxed.owl Aromatic amino acid|aromatic amino acids owl:Class MONDO:0016356 biolink:NamedThing diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). tmpte7i6ely_mondo_relaxed.owl progressive cutaneous systemic sclerosis|dSSc|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic scleroderma|DcSSc GARD:0009751|ICD10:M34.0|NCIT:C116791|Orphanet:220393 https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis owl:Class MONDO:0010581 biolink:NamedThing diabetes insipidus, nephrogenic, X-linked tmpte7i6ely_mondo_relaxed.owl diabetes insipidus, nephrogenic, type 1|Ndi|diabetes insipidus, nephrogenic, X-linked OMIM:304800|UMLS:C1563705|Orphanet:223 owl:Class MONDO:0013475 biolink:NamedThing hypertrophic cardiomyopathy 18 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. tmpte7i6ely_mondo_relaxed.owl CMH18|PLN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 18|cardiomyopathy familial hypertrophic 18|cardiomyopathy, familial hypertrophic, type 18|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy, familial hypertrophic, 18 DOID:0110324|OMIM:613874|UMLS:C3151265 owl:Class MONDO:0004925 biolink:NamedThing chronic dacryocystitis Chronic form of dacryocystitis. tmpte7i6ely_mondo_relaxed.owl dacryocystitis, chronic DOID:9937|ICD10:H04.41|UMLS:C0149506|SCTID:84627005|ICD9:375.42 owl:Class MONDO:0013754 biolink:NamedThing cutis laxa, autosomal recessive, type 1B An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. tmpte7i6ely_mondo_relaxed.owl autosomal recessive cutis laxa type IB|cutis laxa, autosomal recessive, type IB|ARCL1B UMLS:C3280798|OMIM:614437|Orphanet:90349|DOID:0070133|ICD10:Q82.8 owl:Class CL:0000740 biolink:NamedThing retinal ganglion cell The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve. tmpte7i6ely_mondo_relaxed.owl gangliocyte|ganglion cell of retina|RGC BTO:0001800|FMA:67765 cell owl:Class MONDO:0032672 biolink:NamedThing intellectual developmental disorder with cardiac defects and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl IDDCDF|INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES OMIM:618316|Orphanet:562569 owl:Class MONDO:0009379 biolink:NamedThing Rotor syndrome Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemia, ROTOR type|Rotor-type hyperbilirubinemia|hyperbilirubinemia, Rotor type|Rotor syndrome|HBLRR GARD:0000218|ICD10:E80.6|SCTID:32891000|Orphanet:3111|OMIM:237450|MedDRA:10039234|UMLS:C0220991 https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome owl:Class MONDO:0008668 biolink:NamedThing von Willebrand disease 1 Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). tmpte7i6ely_mondo_relaxed.owl Von Willebrand disease, type 1|von Willebrand's disease type 1|von Willebrand disease type 1|VWD type 1|VWD, type 1|VWD1|von Willebrand disease type I|von Willebrand disease 1|von willebrand's disease 1|VON WILLEBRAND disease, type 1 SCTID:128106003|Orphanet:903|UMLS:C1264039|Orphanet:166078|DOID:0060573|MESH:D056725|ICD10:D68.0|NCIT:C131685|OMIM:193400 owl:Class MONDO:0019565 biolink:NamedThing hereditary von Willebrand disease Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). tmpte7i6ely_mondo_relaxed.owl congenital von willebrand's disease|von Willebrand disease|von Willebrand-Jrgens disease|hereditary von Willebrand disease (hereditary or acquired)|von Willebrand's-Jurgens' disease|vascular hemophilia|von Willebrand disorder|von Willebrand-Jurgens disease|von Willebrand's disease|hereditary von Willebrand disease|congenital von willebrand disease|vascular pseudohemophilia ICD9:286.4|NCIT:C68677|MedDRA:10047715|Orphanet:903|UMLS:C0042974|DOID:12531|MESH:D014842|SCTID:128105004|OMIM:613554|ICD10:D68.0|OMIM:314560|ICD10:D69.8|SCTID:234446004|MESH:C531844|GARD:0007867|OMIM:277480|OMIM:193400 owl:Class GO:0009605 biolink:NamedThing response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpte7i6ely_mondo_relaxed.owl response to environmental stimulus owl:Class MONDO:0018824 biolink:NamedThing pyoderma gangrenosum Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. tmpte7i6ely_mondo_relaxed.owl ICD9:686.01|EFO:0006835|Orphanet:48104|UMLS:C0085652|GARD:0007510|MESH:D017511|SCTID:74578003|ICD10:L88|DOID:8553|MedDRA:10037635 https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum owl:Class MONDO:0001441 biolink:NamedThing pica disease An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. tmpte7i6ely_mondo_relaxed.owl Pica|Pica eating disorder SCTID:14077003|NCIT:C92566|ICD9:307.52|DOID:12128|MESH:D010842 owl:Class MONDO:0017981 biolink:NamedThing syngnathia-cleft palate syndrome tmpte7i6ely_mondo_relaxed.owl syngnathia cleft palate UMLS:CN204137|GARD:0005091|Orphanet:3263 owl:Class MONDO:0005845 biolink:NamedThing meningoencephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. tmpte7i6ely_mondo_relaxed.owl UMLS:C0025309|MESH:D008590|ICD10:G04|DOID:10554|ICD10:A69.22|EFO:0007364|SCTID:7125002|NCIT:C34813 owl:Class MONDO:0013992 biolink:NamedThing obesity due to leptin receptor gene deficiency tmpte7i6ely_mondo_relaxed.owl obesity, morbid, nonsyndromic 2|leptin receptor deficiency|obesity due to leptin receptor gene deficiency UMLS:C3554225|OMIM:614963|NCIT:C120386|Orphanet:179494|ICD10:E66.8 owl:Class MONDO:0004229 biolink:NamedThing acantholytic variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. tmpte7i6ely_mondo_relaxed.owl squamous cell breast carcinoma, acantholytic variant NCIT:C40359|DOID:7459|EFO:1001969|UMLS:C1519485 owl:Class HGNC:7432 biolink:NamedThing MTHFD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005995 biolink:NamedThing mitral valve anulus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006008 biolink:NamedThing fibrous ring of heart tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009399 biolink:NamedThing hyperphosphatemia, polyuria, and seizures tmpte7i6ely_mondo_relaxed.owl hyperphosphatemia, polyuria, and seizures OMIM:239350|UMLS:C1855922|MESH:C565494 owl:Class NCBITaxon:451507 biolink:NamedThing Mucoromycotina tmpte7i6ely_mondo_relaxed.owl Zygomycota PMID:17010206|PMID:17051209|PMID:14715234|PMID:27738200|GC_ID:1|PMID:17572334 ncbi_taxonomy owl:Class HGNC:2561 biolink:NamedThing CXCR4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007013 biolink:NamedThing vasculogenic impotence Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both. tmpte7i6ely_mondo_relaxed.owl DOID:4762|EFO:1001234|UMLS:C0243000|MESH:D018783 owl:Class MONDO:0021142 biolink:NamedThing acquired rippling muscle disease The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported. tmpte7i6ely_mondo_relaxed.owl sporadic rippling muscle disease|acquired rippling muscle disease owl:Class MONDO:0017694 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. tmpte7i6ely_mondo_relaxed.owl GSD due to acid maltase deficiency, infantile onset|glycogenosis type 2, infantile onset|Pompe disease, infantile onset|glycogen storage disease type II, infantile onset|GSD type II, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|GSD type 2, infantile onset|glycogenosis type II, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|glycogen storage disease type 2, infantile onset SCTID:722302009|UMLS:CN203590|UMLS:C3888924|ICD10:E74.0|Orphanet:308552 owl:Class HP:0010972 biolink:NamedThing Anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. tmpte7i6ely_mondo_relaxed.owl Dyserythropoietic anemia|Anemia, dyserythropoietic|Defective erythropoiesis|Ineffective erythropoiesis|Anaemia of inadequate production|Dyserythropoietic anaemia UMLS:C0678199|UMLS:C0392708|SNOMEDCT_US:70730006 peter 2011-02-06T02:24:54Z HP:0005553|HP:0005501|HP:0005504 human_phenotype owl:Class MONDO:0022761 biolink:NamedThing chromosome 3 duplication syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:C2931333|MESH:C536803 owl:Class MONDO:0001964 biolink:NamedThing chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. tmpte7i6ely_mondo_relaxed.owl DOID:14435|ICD10:H66.10|UMLS:C0155440|SCTID:87665008|ICD10:H66.1|ICD9:382.1 owl:Class MONDO:0005975 biolink:NamedThing suppurative otitis media Inflammation of the middle ear with purulent discharge. tmpte7i6ely_mondo_relaxed.owl otitis media with effusion - purulent|purulent otitis media SCTID:39288006|ICD10:H66|SCTID:38394007|ICD10:H66.4|ICD9:382.4|EFO:0007503|DOID:11506|UMLS:C0029888|MESH:D010035|ICD9:382|ICD10:H66.40 owl:Class UBERON:0004901 biolink:NamedThing right lung lobar bronchus mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009603 biolink:NamedThing right lung associated mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001723 biolink:NamedThing progressive peripheral pterygium tmpte7i6ely_mondo_relaxed.owl DOID:13474|UMLS:C0155155|ICD9:372.42|SCTID:193881001 owl:Class MONDO:0018681 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome OMIM:616580|Orphanet:453499|UMLS:CN237747 owl:Class CHEBI:32494 biolink:NamedThing D-phenylalaninate The D-enantiomer of phenylalaninate. tmpte7i6ely_mondo_relaxed.owl (2R)-2-amino-3-phenylpropanoate|D-phenylalanine anion|D-phenylalaninate owl:Class CHEBI:32504 biolink:NamedThing phenylalaninate An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group. tmpte7i6ely_mondo_relaxed.owl 2-amino-3-phenylpropanoate|phenylalanine anion|phenylalaninate owl:Class HGNC:8091 biolink:NamedThing OAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005663 biolink:NamedThing Barre-Lieou syndrome A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. tmpte7i6ely_mondo_relaxed.owl posterior cervical sympathetic syndrome|Cervicocranial syndrome EFO:0007165|ICD10:M53.0|ICD9:723.2|UMLS:C2355645|MESH:D055010|SCTID:17300000|NCIT:C34411|DOID:6692|UMLS:C0376378 owl:Class GO:0071624 biolink:NamedThing positive regulation of granulocyte chemotaxis Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071622 biolink:NamedThing regulation of granulocyte chemotaxis Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020592 biolink:NamedThing disorder of pharynx A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. tmpte7i6ely_mondo_relaxed.owl chordate pharynx disease|pharyngeal disease|disease of chordate pharynx|chordate pharynx disease or disorder|pharyngeal disorder|disorder of chordate pharynx|disease or disorder of chordate pharynx SCTID:75860007|NCIT:C26850|GARD:0007266 owl:Class MONDO:0007732 biolink:NamedThing Holt-Oram syndrome Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. tmpte7i6ely_mondo_relaxed.owl atrio digital syndrome|HOS|atrio-digital syndrome|HOS 1|Hos1|heart-hand syndrome|heart-hand syndrome type 1|atriodigital dysplasia type 1|HOLT-Oram syndrome|heart-hand syndrome, type 1|Holt-Oram syndrome|ventriculo-radial syndrome|atriodigital dysplasia|Cardiac-limb syndrome Orphanet:392|ICD10:Q87.2|OMIM:142900|UMLS:C0265264|NCIT:C125592|GARD:0006666|MedDRA:10050469|MESH:C535326|ICD9:759.89|DOID:0060468|SCTID:19092004 owl:Class MONDO:0002574 biolink:NamedThing prostate embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features. tmpte7i6ely_mondo_relaxed.owl embryonal rhabdomyosarcoma (disease) of prostate gland|embryonal rhabdomyosarcoma of the prostate|embryonal rhabdomyosarcoma of prostate|prostate embryonal rhabdomyosarcoma|prostate gland embryonal rhabdomyosarcoma (disease) UMLS:C1335508|NCIT:C5525|DOID:3251 owl:Class MONDO:0009993 biolink:NamedThing embryonal rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. tmpte7i6ely_mondo_relaxed.owl embryonal rhabdomyosarcoma (disease)|ERMS|RMSE1|rhabdomyosarcoma, embryonal, 1|embryonal rhabdomyosarcoma|spindle cell rhabdomyosarcomas (type of ERMS)|rhabdomyosarcoma embryonal|rhabdomyosarcoma chromosomal region|botryoid rhabdomyosarcoma (type of ERMS)|rhabdomyosarcoma, embryonal, type 1|rhabdomyosarcoma 1 embryonal rhabdomyosarcoma (disease) Orphanet:780|ICD9:171.9|NCIT:C8971|ONCOTREE:ERMS|Orphanet:99757|UMLS:C0206656|ICDO:8910/3|ICD10:C49.9|DOID:3246|GARD:0004702|HP:0006743|EFO:0000437|MedDRA:10065868|SCTID:404051002|OMIM:268210 owl:Class CL:0002604 biolink:NamedThing astrocyte of the hippocampus tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T06:57:33Z cell owl:Class HGNC:2605 biolink:NamedThing CYP27A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016899 biolink:NamedThing Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. tmpte7i6ely_mondo_relaxed.owl severe dystrophinopathy, Duchenne and Becker type Orphanet:262|UMLS:CN227033|ICD10:G71.0 owl:Class MONDO:0002758 biolink:NamedThing vulva verrucous carcinoma A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border. tmpte7i6ely_mondo_relaxed.owl verrucous carcinoma of vulva|verrucous carcinoma of the vulva|vulvar verrucous carcinoma|mammalian vulva verrucous carcinoma DOID:3740|UMLS:C1336983|NCIT:C6383 owl:Class MONDO:0013868 biolink:NamedThing porokeratosis 7, multiple types tmpte7i6ely_mondo_relaxed.owl porokeratosis 7, multiple types|POROK7|porokeratosis 7, disseminated superficial actinic type Orphanet:79152|OMIM:614714 owl:Class GO:0045229 biolink:NamedThing external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. tmpte7i6ely_mondo_relaxed.owl external encapsulating structure organisation|external encapsulating structure organization and biogenesis owl:Class MONDO:0010949 biolink:NamedThing Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2B|Charcot Marie Tooth disease type 2B|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|peripheral sensory neuropathy, autosomal dominant (PSN)|hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|CMT 2B|hereditary motor and sensory neuropathy 2B|Charcot-Marie-Tooth disease, neuronal, type 2B|Charcot-Marie-Tooth disease, axonal, type 2B|RAB7A Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2B|autosomal dominant Charcot-Marie-Tooth disease type 2B|HMSN2B|hereditary motor and sensory nueropathy IIB|HMSN IIB|Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|CMT2B OMIM:600882|UMLS:C1833219|ICD10:G60.0|SCTID:717008005|GARD:0009192|MESH:C537989|DOID:0110159|Orphanet:99936 https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b owl:Class HGNC:15710 biolink:NamedThing LDB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007339 biolink:NamedThing blepharocheilodontic syndrome An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. tmpte7i6ely_mondo_relaxed.owl Elschnig syndrome|blepharocheilodontic syndrome 1|ectropion inferior-cleft lip and or palate syndrome|lagophthalmia with bilateral cleft lip and palate|clefting-ectropion-conical teeth syndrome|blepharo-cheilo-odontic syndrome|Elsching syndrome|blepharo-cheilo-dontic syndrome|ectropion inferior-cleft lip and/or palate syndrome|lagophthalmia-cleft lip and palate syndrome|clefting, ectropion, and conical teeth|BCDS|BCD syndrome|BCDS1|ectropion, inferior, with cleft lip and/or palate|ectropion inferior cleft lip and or palate|blepharocheilodontic syndrome MESH:C536188|UMLS:C1861536|OMIMPS:119580|SCTID:717911008|Orphanet:1997|DOID:0080344|ICD10:Q87.8|GARD:0002071 https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate owl:Class MONDO:0011801 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 1 with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1|autosomal recessive spinocerebellar ataxia with axonal neuropathy|SCAN1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy type 1 OMIM:607250|UMLS:C1846574|DOID:0090115|ICD10:G60.2|SCTID:765091006|Orphanet:94124|GARD:0010000|GARD:10000|MESH:C537313 owl:Class MONDO:0009061 biolink:NamedThing cystic fibrosis Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. tmpte7i6ely_mondo_relaxed.owl CF|cystic fibrosis|mucoviscidosis ICD10:E84.8|ICD10:E84.1|DOID:1485|NCIT:C2975|MESH:D003550|OMIM:219700|SCTID:190905008|ICD10:E84|ICD10:E84.0|UMLS:C0010674|GARD:0006233|MedDRA:10011762|Orphanet:586|ICD10:E84.9|ICD9:277.0 https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis owl:Class GO:0044070 biolink:NamedThing regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005465 biolink:NamedThing methamphetamine-induced psychosis Abnormal mental state resulting from an abuse of methamphetamine tmpte7i6ely_mondo_relaxed.owl EFO:0005242 owl:Class NCBITaxon:6757 biolink:NamedThing Portunidae tmpte7i6ely_mondo_relaxed.owl swimming crabs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6774 biolink:NamedThing Portunoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0090325 biolink:NamedThing regulation of locomotion involved in locomotory behavior Any process that modulates the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050795 biolink:NamedThing regulation of behavior Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpte7i6ely_mondo_relaxed.owl regulation of behaviour owl:Class MONDO:0200000 biolink:NamedThing uterine ligament adenosarcoma An extremely rare adenosarcoma that arises from the uterine ligament. tmpte7i6ely_mondo_relaxed.owl adenosarcoma of uterine ligament|uterine ligament adenosarcoma UMLS:C3640823|NCIT:C102570 owl:Class HGNC:8604 biolink:NamedThing PAPSS2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36828 biolink:NamedThing pseudohalide anion tmpte7i6ely_mondo_relaxed.owl pseudohalides|pseudohalogen ion|pseudohalogen anion|pseudohalide anions|pseudohalide ions owl:Class CHEBI:36829 biolink:NamedThing polyatomic monoanion tmpte7i6ely_mondo_relaxed.owl polyatomic monoanions owl:Class HGNC:7155 biolink:NamedThing MMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009311 biolink:NamedThing grouped pigmentation of the retina tmpte7i6ely_mondo_relaxed.owl grouped pigmentation of the macula|grouped pigmentation of retinal pigment epithelium|grouped pigmentation of the retina OMIM:233800|MESH:C565530|UMLS:C1856244 owl:Class UBERON:0001299 biolink:NamedThing glans penis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1938 biolink:NamedThing CHKB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008375 biolink:NamedThing retinal detachment An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. tmpte7i6ely_mondo_relaxed.owl retinal detachment|retina, detached|detached retina ICD10:H33.2|NCIT:C26874|DOID:5327|ICD9:361.9|UMLS:C0035305|SCTID:42059000|ICD9:361.89|MESH:D012163|SCTID_2010_1_31:155103005|OMIM:180050|SCTID_2010_1_31:42059000|ICD9:362.40|EFO:0005773|SCTID_2010_1_31:193347002 owl:Class CHEBI:33847 biolink:NamedThing monocyclic arene A monocyclic aromatic hydrocarbon. tmpte7i6ely_mondo_relaxed.owl monocyclic arenes owl:Class NCBITaxon:42230 biolink:NamedThing Mansonella tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045833 biolink:NamedThing negative regulation of lipid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpte7i6ely_mondo_relaxed.owl negative regulation of lipid metabolism|downregulation of lipid metabolic process|down regulation of lipid metabolic process|down-regulation of lipid metabolic process|inhibition of lipid metabolic process owl:Class GO:0032768 biolink:NamedThing regulation of monooxygenase activity Any process that modulates the activity of a monooxygenase. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33292 biolink:NamedThing fuel An energy-rich substance that can be transformed with release of usable energy. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002223 biolink:NamedThing ovarian malignant mesothelioma A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. tmpte7i6ely_mondo_relaxed.owl ovary malignant mesothelioma (disease)|malignant mesothelioma (disease) of ovary|ovarian malignant mesothelioma NCIT:C40444|DOID:2143|UMLS:C1518721 owl:Class MONDO:0016477 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microdeletion tmpte7i6ely_mondo_relaxed.owl UMLS:CN201472|ICD10:Q87.3|Orphanet:231127 owl:Class MONDO:0016764 biolink:NamedThing isolated anophthalmia-microphthalmia syndrome Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. tmpte7i6ely_mondo_relaxed.owl primitive anophthalmia|isolated pure microphthalmia|isolated anophthalmia - microphthalmia|MAC spectrum|microphthalmia-anophthalmia-coloboma spectrum|clinical anophthalmia|nonsyndromic anophthalmia-microphthalmia syndrome OMIM:611038|OMIM:613094|Orphanet:2542|ICD10:Q11.2|OMIM:613704|ICD10:Q11.0|OMIM:613517|GARD:0012085|OMIM:251600|UMLS:CN202019|OMIM:615113|ICD10:Q11.1|OMIM:156850|OMIM:610093 owl:Class OBO:MF_0000073 biolink:NamedThing intentionality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008128 biolink:NamedThing ophthalmoplegia, familial static tmpte7i6ely_mondo_relaxed.owl external ophthalmoplegia, nonprogressive, congenital hereditary|ophthalmoplegia, familial static MESH:C563500|OMIM:165000|UMLS:C1833839 owl:Class MONDO:0001893 biolink:NamedThing spinal cord melanoma A melanoma (disease) that involves the spinal cord. tmpte7i6ely_mondo_relaxed.owl melanoma of spinal cord|melanoma (disease) of spinal cord|spinal cord melanoma (disease)|melanoma of the spinal cord|spinal cord melanoma UMLS:C1336045|DOID:14151|NCIT:C5158 owl:Class MONDO:0019026 biolink:NamedThing autosomal recessive osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. tmpte7i6ely_mondo_relaxed.owl osteopetrosis (disease), autosomal recessive|autosomal recessive osteopetrosis (disease)|OPTB|autosomal recessive osteopetrosis|malignant osteopetrosis|infantile malignant osteopetrosis|autosomal recessive malignant osteopetrosis NCIT:C129733|OMIM:611490|Orphanet:667|OMIMPS:259700|OMIM:259700|ICD10:Q78.2|OMIM:259710|OMIM:615085|SCTID:367489004 owl:Class MONDO:0016029 biolink:NamedThing esthesioneuroblastoma Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases. tmpte7i6ely_mondo_relaxed.owl olfactory neuroblastoma Orphanet:1957|GARD:0002197|ICD10:C30.0|SCTID:422886007 owl:Class UBERON:0014792 biolink:NamedThing musculature of pelvic complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014559 biolink:NamedThing progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome tmpte7i6ely_mondo_relaxed.owl MRT48|intellectual disability, autosomal recessive 48|mental retardation, autosomal recessive 48|intellectual disability, autosomal recessive type 48|mental retardation, autosomal recessive type 48 OMIM:616269|Orphanet:457212|UMLS:C4225395 owl:Class MONDO:0032621 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 16 tmpte7i6ely_mondo_relaxed.owl MC1DN16|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 OMIM:618238 owl:Class MONDO:0011849 biolink:NamedThing psoriatic arthritis Joint inflammation associated with psoriasis. tmpte7i6ely_mondo_relaxed.owl arthritis psoriatica|psoriatic arthropathy|psoriatic arthritis, susceptibility to|arthropathic psoriasis|susceptibility to psoriatic arthritis|psoriatic arthritis, susceptibility to, 1 UMLS:C0003872|Orphanet:40050|ICD10:L40.50|NCIT:C61277|SCTID:156370009|MESH:D015535|EFO:0003778|ICD9:696.0|ICD10:L40.5|DOID:9008 owl:Class HP:0010987 biolink:NamedThing Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023612 peter 2011-02-08T12:49:47Z human_phenotype owl:Class MONDO:0021762 biolink:NamedThing acrocoxomesomelic dysplasia A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. tmpte7i6ely_mondo_relaxed.owl acro-coxo-mesomelic dwarfism GARD:0000483 https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia owl:Class UBERON:0003485 biolink:NamedThing vagina sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004549 biolink:NamedThing right eye tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000036 biolink:NamedThing epithelial fate stem cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0010515 biolink:NamedThing Meester-Loeys syndrome tmpte7i6ely_mondo_relaxed.owl Meester-Loeys syndrome|Meester-Loeys syndrome; MRLS|MRLS OMIM:300989|UMLS:C4310811 owl:Class MONDO:0002120 biolink:NamedThing neuroendocrine carcinoma A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. tmpte7i6ely_mondo_relaxed.owl neuroendocrine cancer|NEC|neuroendocrine carcinoma MESH:D018278|DOID:1800|NCIT:C3773|UMLS:C0206695|SCTID:253000007|ICDO:8246/3 owl:Class MONDO:0007293 biolink:NamedThing leukocyte adhesion deficiency 1 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. tmpte7i6ely_mondo_relaxed.owl LFA1 immunodeficiency|leukocyte adhesion deficiency, type 1|leukocyte adhesion deficiency 1|leukocyte adhesion deficiency caused by mutation in ITGB2|Lad1|lad-type I|ITGB2 leukocyte adhesion deficiency|LFA 1 immunodeficiency|lad-I|leukocyte adhesion deficiency type I|LFA-I deficiency|LAD1|lad|Lfa1 immunodeficiency|leukocyte adhesion deficiency, type I|lymphocyte function-associated antigen 1 immunodeficiency|lad 1|leukocyte adhesion deficiency type 1 OMIM:116920|NCIT:C4689|ICD10:D84.8|DOID:0110910|UMLS:C0398738|SCTID:234582006|Orphanet:99842|Orphanet:2968|GARD:0006893|MESH:C535887 owl:Class MONDO:0017553 biolink:NamedThing humero-ulnar synostosis, bilateral tmpte7i6ely_mondo_relaxed.owl humero-ulnar fusion, bilateral Orphanet:295215|ICD10:Q74.0 owl:Class GO:0009896 biolink:NamedThing positive regulation of catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpte7i6ely_mondo_relaxed.owl positive regulation of catabolism|up-regulation of catabolic process|stimulation of catabolic process|activation of catabolic process|up regulation of catabolic process|upregulation of catabolic process|positive regulation of degradation|positive regulation of breakdown owl:Class GO:0010560 biolink:NamedThing positive regulation of glycoprotein biosynthetic process Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0011027 biolink:NamedThing skeletal muscle fibroblast Any fibroblast that is part of skeletal muscle tissue. tmpte7i6ely_mondo_relaxed.owl skeleton muscle fibroblast owl:Class MONDO:0003349 biolink:NamedThing central nervous system leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of the central nervous system|leiomyosarcoma of CNS|leiomyosarcoma of the CNS|CNS leiomyosarcoma|leiomyosarcoma of central nervous system|central nervous system leiomyosarcoma UMLS:C1334385|NCIT:C6999|DOID:5254 owl:Class UBERON:0010090 biolink:NamedThing future falx cerebri tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017231 biolink:NamedThing erythropoietic uroporphyria associated with myeloid malignancy tmpte7i6ely_mondo_relaxed.owl ICD10:E80.2|GARD:0010948|Orphanet:280379 https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy owl:Class HGNC:20188 biolink:NamedThing DNAAF2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33848 biolink:NamedThing polycyclic arene A polycyclic aromatic hydrocarbon. tmpte7i6ely_mondo_relaxed.owl polycyclic aromatic hydrocarbons|PAHs|PAH|polycyclic arenes owl:Class NCBITaxon:33084 biolink:NamedThing Entamoebidae tmpte7i6ely_mondo_relaxed.owl Entamoebida GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2509511 biolink:NamedThing Sarbecovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020363 biolink:NamedThing honey-droplet corneal dystrophy tmpte7i6ely_mondo_relaxed.owl UMLS:CN207218|ICD10:H18.5|Orphanet:98958 owl:Class HGNC:7498 biolink:NamedThing MT-TS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012921 biolink:NamedThing type 1 diabetes mellitus 22 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. tmpte7i6ely_mondo_relaxed.owl insulin-dependent diabetes mellitus 22|CCR5 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CCR5|IDDM22|diabetes mellitus, insulin-dependent, 22|diabetes mellitus, insulin-dependent, type 22 UMLS:C2675864|DOID:0110759|MESH:C567284|ICD10:E10|OMIM:612522 owl:Class MONDO:0001226 biolink:NamedThing acute contagious conjunctivitis Acute inflammation of the conjunctiva characterized by pink or red color in the eyes. tmpte7i6ely_mondo_relaxed.owl Contagious opthalmia|conjunctivitis infective|pinkeye ICD9:041.89|UMLS:C1313983|NCIT:C35704|DOID:11213|SCTID:399219006 owl:Class MONDO:0001214 biolink:NamedThing acute conjunctivitis Acute inflammation of the conjunctiva. tmpte7i6ely_mondo_relaxed.owl conjunctivitis (disease), acute|acute conjunctivitis (disease) ICD9:372.03|UMLS:C0155141|DOID:11184|ICD9:372.00|NCIT:C35195|ICD10:H10.02|SCTID:53726008 owl:Class MONDO:0044880 biolink:NamedThing cystic tumor of the pancreas tmpte7i6ely_mondo_relaxed.owl ONCOTREE:PACT owl:Class MONDO:0013629 biolink:NamedThing intellectual disability, autosomal recessive 16 tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 16|mental retardation, autosomal recessive 16|MRT16 OMIM:614208|UMLS:C3280154 owl:Class MONDO:0014676 biolink:NamedThing Emery-Dreifuss muscular dystrophy 3, autosomal recessive Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|EMERY-Dreifuss muscular dystrophy 3, autosomal recessive|EDMD3|LMNA autosomal recessive Emery-Dreifuss muscular dystrophy Orphanet:261|MESH:C567633|Orphanet:98855|DOID:0070248|OMIM:616516|UMLS:C2750035 owl:Class GO:0015721 biolink:NamedThing bile acid and bile salt transport The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl bile acid transport|bile salt transport owl:Class MONDO:0017404 biolink:NamedThing distal Xq28 microduplication syndrome Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl distal trisomy Xq28|distal dup(X)q(28) UMLS:CN203151|Orphanet:293939|ICD10:Q99.8 owl:Class MONDO:0005773 biolink:NamedThing Gerstmann syndrome Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. tmpte7i6ely_mondo_relaxed.owl GS|developmental Gerstmann syndrome|aphasia-angular gyrus syndrome|Gerstmann Badal syndrome|Gerstmann tetrad MedDRA:10048608|Orphanet:221117|MESH:D005862|ICD9:784.69|DOID:4969|ICD10:F81.2|GARD:0008660|SCTID:36785009|EFO:0007285 https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome owl:Class MONDO:0019775 biolink:NamedThing Chudley-Lowry-Hoar syndrome Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies). tmpte7i6ely_mondo_relaxed.owl Chudley Lowry Hoar syndrome|Chudley intellectual disability syndrome|Chudley-Lowry syndrome|intellectual disability-hypotonic facies syndrome X-linked, 1|Smith Fineman Myers syndrome 1|Chudley syndrome 1|SFM1|mental retardation-hypotonic facies syndrome X-linked, 1|Chudley mental retardation syndrome SCTID:717763008|UMLS:CN206716|OMIM:309580|Orphanet:93971|GARD:0001357 owl:Class HGNC:14537 biolink:NamedThing NPC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100326 biolink:NamedThing Glanzmann thrombasthenia tmpte7i6ely_mondo_relaxed.owl Glanzmann thrombasthenia OMIMPS:273800|Orphanet:849 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:30242 biolink:NamedThing TUSC3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33822 biolink:NamedThing organic hydroxy compound An organic compound having at least one hydroxy group attached to a carbon atom. tmpte7i6ely_mondo_relaxed.owl hydroxy compounds|organic alcohol|organic hydroxy compounds owl:Class MONDO:0005908 biolink:NamedThing peste des petits ruminants infectious disease A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia. tmpte7i6ely_mondo_relaxed.owl Small ruminant morbillivirus infectious disease|Peste des petits ruminants|Small ruminant morbillivirus caused disease or disorder|Small ruminant morbillivirus disease or disorder|Pseudorinderpest UMLS:C0949885|EFO:0007431|MESH:D029021 owl:Class FOODON:03400172 biolink:NamedThing prepared food product (us cfr) Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0172 prepared dish http://langual.org owl:Class MONDO:0021082 biolink:NamedThing Meckel diverticulum neoplasm A neoplasm involving a Meckel's diverticulum. tmpte7i6ely_mondo_relaxed.owl Meckel's diverticulum tumor|Meckel's diverticulum neoplasm (disease)|neoplasm of Meckel's diverticulum|tumor of Meckel's diverticulum|Meckel's diverticulum neoplasm SCTID:126836001|UMLS:C0345839 owl:Class MONDO:0022986 biolink:NamedThing diffuse idiopathic pulmonary neuroendocrine cell hyperplasia A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor. tmpte7i6ely_mondo_relaxed.owl DIPNECH|diffuse idiopathic pulmonary neuroendocrine cell hyperplasia|DIP-NECH GARD:0010780|NCIT:C7437|UMLS:C1333291 https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia owl:Class UBERON:0010728 biolink:NamedThing sphenoid lesser wing pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007589 biolink:NamedThing exudative vitreoretinopathy 1 tmpte7i6ely_mondo_relaxed.owl exudative vitreoretinopathy type 1|EVR1|Fevr, autosomal dominant|retinopathy of prematurity|exudative vitreoretinopathy, familial, autosomal dominant|exudative vitreoretinopathy 1|Criswick-Schepens syndrome Orphanet:90050|MESH:C536382|DOID:0111412|Orphanet:891|OMIM:133780|UMLS:C1851402 owl:Class MONDO:0003487 biolink:NamedThing pseudoglandular squamous cell carcinoma A squamous cell carcinoma characterized by the formation of gland-like structures. tmpte7i6ely_mondo_relaxed.owl adenoid squamous cell carcinoma (morphologic abnormality)|pseudoglandular epidermoid cell carcinoma|pseudoglandular squamous carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|acantholytic squamous cell carcinoma|pseudoglandular epidermoid carcinoma|adenocarcinoma with squamous metaplasia|adenoid squamous cell carcinoma|pseudoglandular squamous cell carcinoma|pharyngeal tonsil squamous cell carcinoma|adenoacanthoma|adenoid squamous carcinoma ICDO:8075/3|UMLS:C0334250|DOID:5524|SCTID:403901001|UMLS:C0334393|NCIT:C4106 owl:Class MONDO:0010615 biolink:NamedThing isolated growth hormone deficiency type III tmpte7i6ely_mondo_relaxed.owl IGHD 3|isolated growth hormone deficiency, type III|X-linked isolated growth hormone deficiency|isolated growth hormone deficiency, type 3|congenital IGHD type III|IGHD3|hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|X-linked agammaglobulinemia and isolated growth hormone deficiency|growth hormone deficiency with hypogammaglobulinemia|isolated growth hormone deficiency type III|congenital isolated GH deficiency type III|X-linked IGHD|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|Growth hormone deficiency with hypogammaglobulinemia|congenital isolated growth hormone deficiency type III|isolated growth hormone deficiency type 3|IGHD III|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|Fleisher syndrome Orphanet:632|GARD:0003921|OMIM:300123|DOID:0060875|OMIM:307200|MESH:C537149|SCTID:234533006|Orphanet:631|Orphanet:231692|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3 owl:Class MONDO:0020444 biolink:NamedThing subaortic course of innominate vein Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. tmpte7i6ely_mondo_relaxed.owl subaortic course of brachiocephalic vein Orphanet:99113|ICD10:Q26.8|SCTID:766756002 owl:Class NCBITaxon:2497574 biolink:NamedThing Monjiviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0120111 biolink:NamedThing neuron projection cytoplasm All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900544 biolink:NamedThing positive regulation of purine nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process. tmpte7i6ely_mondo_relaxed.owl upregulation of purine metabolism|activation of purine metabolism|up regulation of purine metabolism|upregulation of purine metabolic process|up regulation of purine nucleotide metabolic process|upregulation of purine nucleotide metabolic process|up regulation of purine nucleotide metabolism|positive regulation of purine metabolic process|activation of purine nucleotide metabolism|up-regulation of purine nucleotide metabolism|positive regulation of purine nucleotide metabolism|activation of purine nucleotide metabolic process|up-regulation of purine metabolism|upregulation of purine nucleotide metabolism|up regulation of purine metabolic process|positive regulation of purine metabolism|up-regulation of purine metabolic process|activation of purine metabolic process|up-regulation of purine nucleotide metabolic process owl:Class NCBITaxon:1980486 biolink:NamedThing Puumala orthohantavirus tmpte7i6ely_mondo_relaxed.owl Puumala hantavirus|Puumalavirus|nephropathia epidemica virus|Puumala virus|Puumala virus PV GC_ID:1 NCBITaxon:11604 ncbi_taxonomy owl:Class HP:0008873 biolink:NamedThing Disproportionate short-limb short stature A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. tmpte7i6ely_mondo_relaxed.owl Disproportionate short limb dwarfism|Short limb dwarfism|Short limb dwarfism, disproportionate|Micromelic dwarfism|Short-limbed dwarfism|Short stature, disproportionate short-limb|Short stature, disproportionate short limb|Short-limb dwarfism|Brachymelic dwarfism|Dwarfism, short-limbed UMLS:C1849937 A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). HP:0008889|HP:0001523|HP:0003505|HP:0008914|HP:0008880|HP:0008858|HP:0008869|HP:0008881|HP:0003509|HP:0008912|HP:0008875|HP:0008928 human_phenotype owl:Class MONDO:0021121 biolink:NamedThing hemangioendothelioma A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. tmpte7i6ely_mondo_relaxed.owl angioendothelioma|hemangioendothelioma MESH:D006390|ICDO:9130/1|SCTID:403980002|NCIT:C3084|UMLS:C0018915|GARD:0006557 https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma owl:Class MONDO:0014360 biolink:NamedThing developmental and epileptic encephalopathy, 21 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 21|EIEE21|NECAP1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 21|DEE21|early infantile epileptic encephalopathy caused by mutation in NECAP1 DOID:0080443|OMIM:615833|UMLS:C4014430 owl:Class GO:0002830 biolink:NamedThing positive regulation of type 2 immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. tmpte7i6ely_mondo_relaxed.owl positive regulation of Th2 immune response|up-regulation of type 2 immune response|positive regulation of T-helper 2 type immune response|up regulation of type 2 immune response|upregulation of type 2 immune response|stimulation of type 2 immune response|activation of type 2 immune response owl:Class MONDO:0024526 biolink:NamedThing Zimmermann-Laband syndrome 1 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene. tmpte7i6ely_mondo_relaxed.owl fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly|Laband syndrome|ZLS1|Zimmermann-Laband syndrome caused by mutation in KCNH1|Zimmermann-Laband syndrome 1|KCNH1 Zimmermann-Laband syndrome UMLS:CN032818|Orphanet:3473|OMIM:135500|UMLS:C0796013 owl:Class MONDO:0008548 biolink:NamedThing theophylline Biotransformation tmpte7i6ely_mondo_relaxed.owl theophylline Biotransformation 2022-04-01 UMLS:C1861211|OMIM:187650 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0023022 biolink:NamedThing dwarfism thin bones multiple fractures tmpte7i6ely_mondo_relaxed.owl GARD:0001992 https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures owl:Class MONDO:0014831 biolink:NamedThing progeroid and marfanoid aspect-lipodystrophy syndrome tmpte7i6ely_mondo_relaxed.owl Marfan-progeroid-lipodystrophy syndrome|MFLS|Marfan lipodystrophy syndrome|Marfanoid-progeroid syndrome Orphanet:300382|ICD10:E88.1|OMIM:616914|UMLS:C4310796 owl:Class MONDO:0003190 biolink:NamedThing middle ear carcinoma A carcinoma that arises from epithelial cells of the middle ear tmpte7i6ely_mondo_relaxed.owl carcinoma of the middle ear|carcinoma of middle Ear|middle Ear carcinoma|carcinoma of middle ear|middle ear carcinoma|carcinoma of the middle Ear DOID:4893|UMLS:C1334760|NCIT:C6089 owl:Class MONDO:0003626 biolink:NamedThing uterine ligament serous adenocarcinoma A rare serous adenocarcinoma that arises from the uterine ligament. tmpte7i6ely_mondo_relaxed.owl uterine ligament serous adenocarcinoma NCIT:C40136|DOID:5747|UMLS:C1519872 owl:Class HGNC:29941 biolink:NamedThing GATAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012285 biolink:NamedThing left ventricular noncompaction 2 tmpte7i6ely_mondo_relaxed.owl left ventricular noncompaction 2|LVNC2 OMIM:609470|Orphanet:54260|UMLS:C1836118 owl:Class HGNC:25839 biolink:NamedThing GRHL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009024 biolink:NamedThing cortical blindness-intellectual disability-polydactyly syndrome This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly. tmpte7i6ely_mondo_relaxed.owl cortical blindness, retardation, and postaxial polydactyly MESH:C565674|Orphanet:1389|UMLS:C1857568|GARD:0001548|OMIM:218010 https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome owl:Class HGNC:4389 biolink:NamedThing GNAO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012929 biolink:NamedThing Compton-North congenital myopathy tmpte7i6ely_mondo_relaxed.owl Compton-North congenital myopathy|MYPCN|congenital lethal myopathy, Compton-North type|myopathy, congenital, Compton-NORTH MESH:C567261|UMLS:C2675527|DOID:0080101|ICD10:G71.2|Orphanet:210163|OMIM:612540 owl:Class MONDO:0009710 biolink:NamedThing Thomsen and Becker disease A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). tmpte7i6ely_mondo_relaxed.owl Batten-Turner congenital myopathy|myotonia congenita|myopathy, congenital MedDRA:10028655|ICD10:G71.12|MedDRA:10043461|OMIM:255300|DOID:2106|NCIT:C84912|ICD10:G71.1|GARD:0012301|OMIM:160800|Orphanet:614|ICD9:359.22|OMIM:255700|UMLS:C0027127|SCTID:726051002 owl:Class UBERON:0004733 biolink:NamedThing segmental subdivision of hindbrain tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10p11.21-p12.31 biolink:NamedThing 10p11.21-p12.31 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0020460 biolink:NamedThing acquired von willebrand syndrome Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. tmpte7i6ely_mondo_relaxed.owl AVWS|Willebrand disease, acquired|acquired von Willebrand disease (hereditary or acquired)|acquired von willebrand disease|acquired von Willebrand disease SCTID:234451005|GARD:5573|PMID:28028990|ICD10:D68.4|Orphanet:99147|MedDRA:10069495|UMLS:C0272362|GARD:0005573|MEDDRA:10069495|DOID:0111146 https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome owl:Class MONDO:0020599 biolink:NamedThing acquired coagulation factor deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. tmpte7i6ely_mondo_relaxed.owl acquired coagulation protein disease|acquired coagulation factor deficiency SCTID:25904003|NCIT:C34347|UMLS:C0001169 owl:Class GO:1900404 biolink:NamedThing positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair. tmpte7i6ely_mondo_relaxed.owl stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter owl:Class MONDO:0003562 biolink:NamedThing rete testis neoplasm A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl rete testis tumor|tumor of rete testis|neoplasm of rete testis|rete testis neoplasm|rete testis neoplasm (disease) NCIT:C39955|UMLS:C1514912|DOID:5639 owl:Class MONDO:0017790 biolink:NamedThing gastric adenocarcinoma and proximal polyposis of the stomach A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl polyposis, gastric|GAPPS|fundic gland polyposis|polyposis, gastric, Dos Santos and de Magalhaes 1980|familial fundic gland polyposis with gastric cancer UMLS:CN203740|OMIM:619182|Orphanet:314022|UMLS:C0236048 owl:Class MONDO:0018502 biolink:NamedThing hereditary gastric cancer Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome. tmpte7i6ely_mondo_relaxed.owl hereditary gastric cancer|hereditary cancer of stomach Orphanet:423776 owl:Class UBERON:0008974 biolink:NamedThing apocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002790 biolink:NamedThing seminal vesicle tumor A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl seminal vesicle neoplasm (disease)|tumor of seminal vesicle|seminal vesicle tumor|seminal vesicle neoplasm|neoplasm of seminal vesicle DOID:3855|SCTID:236740006|NCIT:C39908|ICD9:239.5|UMLS:C0341767 owl:Class MONDO:0017529 biolink:NamedThing polysyndactyly, unilateral tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly type 4, unilateral ICD10:Q70.4|Orphanet:295159|UMLS:CN203260 owl:Class MONDO:0008272 biolink:NamedThing polysyndactyly 4 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. tmpte7i6ely_mondo_relaxed.owl polysyndactyly uncomplicated|polydactyly preaxial 4|preaxial polydactyly type 4|preaxial polydactyly 4|crossed polydactyly type 1|polydactyly, preaxial IV|crossed polydactyly, type 1|polysyndactyly, uncomplicated|polydactyly, preaxial type 4|polydactyly, preaxial 4|PPD4 SCTID:84598000|ICD10:Q70.4|NCIT:C125597|UMLS:C1868111|UMLS:C0265553|GARD:0001616|ICD9:755.10|Orphanet:93338|MedDRA:10063143|OMIM:174700|GARD:0009903 https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1 owl:Class ENVO:09000009 biolink:NamedThing concentration of carbon atom in water The concentration of a carbon atom when measured in water. tmpte7i6ely_mondo_relaxed.owl water carbon atom concentration owl:Class GO:0004030 biolink:NamedThing aldehyde dehydrogenase [NAD(P)+] activity Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+. tmpte7i6ely_mondo_relaxed.owl ALDH|aldehyde:NAD(P)+ oxidoreductase activity owl:Class MONDO:0016126 biolink:NamedThing viral myositis tmpte7i6ely_mondo_relaxed.owl ICD10:M60.0|Orphanet:206991|ICD9:729.1|UMLS:C0150005|MedDRA:10051512|SCTID:240105009 owl:Class MONDO:0019620 biolink:NamedThing congenital esophageal diverticulum Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations. tmpte7i6ely_mondo_relaxed.owl congenital esophageal pouch Orphanet:91358|ICD9:750.4|SCTID:204667006|ICD10:Q39.6 owl:Class MONDO:0006905 biolink:NamedThing pigmented spindle cell nevus A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma. tmpte7i6ely_mondo_relaxed.owl spindle cell Nevus of Reed NCIT:C4751|SCTID:254812004|EFO:1001105|MESH:D018331 owl:Class MONDO:0012771 biolink:NamedThing asthma-related traits, susceptibility to, 7 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene. tmpte7i6ely_mondo_relaxed.owl inherited susceptibility to asthma caused by mutation in CHI3L1|asthma-RELATED traits, susceptibility to, 7|ASRT7|asthma-related traits, susceptibility to, 7|asthma-related traits, susceptibility to, type 7|CHI3L1 inherited susceptibility to asthma OMIM:611960 owl:Class GO:0098798 biolink:NamedThing mitochondrial protein-containing complex A protein complex that is part of a mitochondrion. tmpte7i6ely_mondo_relaxed.owl mitochondrial protein complex owl:Class HGNC:7103 biolink:NamedThing MIP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006034 biolink:NamedThing gastric adenosquamous carcinoma A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. tmpte7i6ely_mondo_relaxed.owl gastric adenosquamous carcinoma|adenosquamous carcinoma of the stomach|adenosquamous carcinoma of stomach|gastric (stomach) adenosquamous cancer|stomach adenosquamous carcinoma|STAS EFO:1000029|UMLS:C1333761|NCIT:C5474|ONCOTREE:STAS|DOID:5635 owl:Class MONDO:0007537 biolink:NamedThing lateral meningocele syndrome tmpte7i6ely_mondo_relaxed.owl Lehman syndrome|Lms|LMNS|lateral meningocele syndrome DOID:0111343|GARD:0009873|ICD10:Q87.5|OMIM:130720|UMLS:C1851710|MESH:C537878|Orphanet:2789 owl:Class CHEBI:18367 biolink:NamedThing phosphate(3-) A phosphate ion that is the conjugate base of hydrogenphosphate. tmpte7i6ely_mondo_relaxed.owl tetraoxophosphate(3-)|[PO4](3-)|tetraoxophosphate(V)|Orthophosphate|Phosphate|PHOSPHATE ION|tetraoxidophosphate(3-)|PO4(3-)|phosphate owl:Class MONDO:0010442 biolink:NamedThing 46,XX sex reversal 3 tmpte7i6ely_mondo_relaxed.owl 46,XX SEX reversal 3|46,XX sex reversal 3|46,XX Sex reversal type 3|chromosome Xq26 Duplication syndrome|46,XX Sex reversal, Sox3-related|SRXX3|chromosome Xq26 deletion syndrome UMLS:C3151782|OMIM:300833|Orphanet:393|DOID:0111762 owl:Class MONDO:0001740 biolink:NamedThing cornea squamous cell carcinoma A rare squamous cell carcinoma that arises from the cornea. tmpte7i6ely_mondo_relaxed.owl corneal epidermoid carcinoma|squamous cell carcinoma of cornea|cornea epidermoid carcinoma|corneal squamous cell carcinoma|epidermoid carcinoma of cornea|epidermoid carcinoma of the cornea|squamous cell carcinoma of the cornea|cornea squamous cell carcinoma SCTID:255008003|NCIT:C4552|DOID:13538|UMLS:C0346366 owl:Class MONDO:0020164 biolink:NamedThing epicanthal fold tmpte7i6ely_mondo_relaxed.owl Orphanet:98573|ICD10:Q10.3 owl:Class MONDO:0020163 biolink:NamedThing canthal anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98572 owl:Class UBERON:0035165 biolink:NamedThing posterior surface of prostate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017315 biolink:NamedThing short stature-webbed neck-heart disease syndrome Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents. tmpte7i6ely_mondo_relaxed.owl Al Gazali Aziz Salem syndrome|short stature, webbed neck, heart disease|short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease|Al Gazali-Aziz-Salem syndrome SCTID:721073008|MESH:C535613|UMLS:C2930950|Orphanet:2865|ICD10:Q87.8|GARD:0000583 owl:Class GO:2000468 biolink:NamedThing regulation of peroxidase activity Any process that modulates the frequency, rate or extent of peroxidase activity. tmpte7i6ely_mondo_relaxed.owl regulation of peroxidase reaction|regulation of oxyperoxidase activity|regulation of donor:hydrogen-peroxide oxidoreductase activity owl:Class GO:0001932 biolink:NamedThing regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. tmpte7i6ely_mondo_relaxed.owl regulation of protein amino acid phosphorylation owl:Class MONDO:0002301 biolink:NamedThing frontal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of frontal sinus|frontal sinus epidermoid carcinoma|epidermoid carcinoma of the frontal sinus|epidermoid carcinoma of frontal sinus|frontal sinus squamous cell carcinoma|squamous cell carcinoma of the frontal sinus NCIT:C6067|DOID:2441|SCTID:707356001|UMLS:C1333646 owl:Class NCBITaxon:2560319 biolink:NamedThing Avian orthoavulavirus 1 tmpte7i6ely_mondo_relaxed.owl Avian paramyxovirus type 1|NDV|Newcastle disease virus NDV|Avian avulavirus 1|avian paramyxovirus 1|Avian Paramyxovirus Serotype I|Newcastle disease virus|Avian paramyxovirus type-1 GC_ID:1 NCBITaxon:11176 ncbi_taxonomy owl:Class NCBITaxon:2560194 biolink:NamedThing Orthoavulavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014740 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 68 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 68|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|autosomal dominant nonsyndromic deafness type 68|DFNA68|HOMER2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 68|autosomal dominant nonsyndromic deafness 68|deafness, autosomal dominant type 68 UMLS:C4225240|ICD10:H90.3|DOID:0110589|OMIM:616707 owl:Class MONDO:0018166 biolink:NamedThing oral submucous fibrosis Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. tmpte7i6ely_mondo_relaxed.owl oral cavity submucous fibrosis|oral submucosal fibrosis|oral submucosal fibrosis, including of tongue|OSMF SCTID:32883009|NCIT:C34866|MESH:D009914|Orphanet:357154|UMLS:C0029171|UMLS:C0029172|EFO:1001818|ICD10:K13.5|DOID:5773|ICD9:528.8|GARD:0007264 https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis owl:Class MONDO:0008687 biolink:NamedThing Woronets trait tmpte7i6ely_mondo_relaxed.owl Woronets trait OMIM:194320 owl:Class HGNC:31928 biolink:NamedThing NBEAL2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5971 biolink:NamedThing IL12RB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003528 biolink:NamedThing Volkmann contracture An ischemic contracture of the forearm that most often occurs secondary to trauma. tmpte7i6ely_mondo_relaxed.owl Volkmann's ischemic contracture ICD9:958.6|MESH:D054061|NCIT:C35130|SCTID:111247001|DOID:5587|UMLS:C0042951|ICD10:T79.6 owl:Class HP:0005445 biolink:NamedThing Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. tmpte7i6ely_mondo_relaxed.owl Widened posterior fossa UMLS:C1855889 human_phenotype owl:Class HP:0000932 biolink:NamedThing Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. tmpte7i6ely_mondo_relaxed.owl Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa|Posterior fossa anomaly UMLS:C3280768 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. HP:0007306 human_phenotype owl:Class MONDO:0005562 biolink:NamedThing age-related hearing impairment Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males. tmpte7i6ely_mondo_relaxed.owl ARHI EFO:0005782 Editor note: check classification sensorineural vs conductive owl:Class MONDO:0001427 biolink:NamedThing Dieulafoy lesion Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly. tmpte7i6ely_mondo_relaxed.owl Dieulafoy lesion (hemorrhagic) of stomach and duodenum|Dieulafoy's lesion|Exulceratio simplex Dieulafoy|Dieulafoy lesion (hemorrhagic) of intestine|Dieulafoy disease UMLS:C0341217|ICD10:K31.82|DOID:12070|ICD9:537.84|SCTID:109558001|GARD:0010930 https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion owl:Class UBERON:0005965 biolink:NamedThing outflow part of right atrium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000322 biolink:NamedThing pneumocyte An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates. tmpte7i6ely_mondo_relaxed.owl pneumonocyte|alveolar epithelial cell CALOHA:TS-2168|FMA:62499|BTO:0000395 cell owl:Class MONDO:0054708 biolink:NamedThing retinitis pigmentosa 80 tmpte7i6ely_mondo_relaxed.owl RP80|RETINITIS pigmentosa 80 OMIM:617781 owl:Class HGNC:13221 biolink:NamedThing BCL11A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7643 biolink:NamedThing NARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003093 biolink:NamedThing regulation of glomerular filtration Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003145 biolink:NamedThing supratentorial primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. tmpte7i6ely_mondo_relaxed.owl supratentorial primitive neuroectodermal tumor|CNS/supratentorial PNET|supratentorial PNET|supratent. primitive neuro. tumor SCTID:699318007|DOID:4791|NCIT:C6968|GARD:0007366|ICD9:209.30|UMLS:C1336538 owl:Class MONDO:0021280 biolink:NamedThing mucoepidermoid carcinoma of parotid gland A mucoepidermoid carcinoma that involves the parotid gland. tmpte7i6ely_mondo_relaxed.owl mucoepidermoid carcinoma of the parotid gland|parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of parotid|mucoepidermoid carcinoma of the parotid|parotid mucoepidermoid carcinoma UMLS:C1335363|SCTID:423793008|NCIT:C5938 owl:Class MONDO:0043141 biolink:NamedThing microdontia hypodontia short stature tmpte7i6ely_mondo_relaxed.owl microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality UMLS:C2931532|GARD:0003638|MESH:C537553 owl:Class MONDO:0015514 biolink:NamedThing genetic endocrine growth disease tmpte7i6ely_mondo_relaxed.owl growth disorder MESH:D006130|UMLS:CN237424|Orphanet:156643 owl:Class GO:0010563 biolink:NamedThing negative regulation of phosphorus metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017468 biolink:NamedThing congenital shoulder dislocation tmpte7i6ely_mondo_relaxed.owl ICD9:755.59|Orphanet:295030|SCTID:23876003|ICD10:Q68.8 owl:Class MONDO:0017430 biolink:NamedThing non-syndromic congenital joint dislocations tmpte7i6ely_mondo_relaxed.owl congenital joint dislocations Orphanet:294951 owl:Class MONDO:0009938 biolink:NamedThing pulmonic stenosis tmpte7i6ely_mondo_relaxed.owl pulmonic stenosis (disease)|pulmonic stenosis|pulmonary stenosis|valvular pulmonic stenosis pulmonic stenosis (disease) OMIM:265500|GARD:0010071|HP:0001642|UMLS:C1956257|Orphanet:3189 owl:Class MONDO:0012407 biolink:NamedThing pyridoxal phosphate-responsive seizures Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, neonatal, Pnpo-related|Pnpo deficiency|PNPO deficiency|pyridoxal 5'-phosphate-dependent epilepsy|pyridoxine 5' phosphate oxidase deficiency|pyridoxal phosphate-dependent seizures|seizures, pyridoxine-resistant, PLP-sensitive|PNPO-related neonatal epileptic encephalopathy|pyridoxine-5'-phosphate oxidase deficiency|pyridoxamine 5'-oxidase deficiency|pyridoxamine 5-prime-phosphate oxidase deficiency|PNPOD|pyridoxamine 5'-phosphate oxidase deficiency OMIM:610090|ICD10:G40.8|SCTID:724576005|Orphanet:79096|UMLS:C1864723|GARD:0010730|MESH:C566449|DOID:0111329 owl:Class HP:0003355 biolink:NamedThing Aminoaciduria An increased concentration of an amino acid in the urine. tmpte7i6ely_mondo_relaxed.owl Hyperaminoaciduria|Increased levels of animo acids in urine|High urine amino acid levels|Abnormal urinary amino-acid findings UMLS:C0238621|SNOMEDCT_US:35912001|UMLS:C4020843 HP:0200014|HP:0002903|HP:0008335 human_phenotype owl:Class MONDO:0018199 biolink:NamedThing new-onset refractory status epilepticus New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. tmpte7i6ely_mondo_relaxed.owl New onset refractory status epilepticus|Norse|De novo cryptogenic refractory multifocal febrile status epilepticus ICD10:G41.8|Orphanet:363558|GARD:0012244 owl:Class MONDO:0015467 biolink:NamedThing craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. tmpte7i6ely_mondo_relaxed.owl OMIM:185900|GARD:0001601|Orphanet:1527|SCTID:720818003|ICD10:Q87.0 owl:Class MONDO:0007822 biolink:NamedThing incisors, long upper central tmpte7i6ely_mondo_relaxed.owl incisors, long upper central 2022-04-01 OMIM:147300 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0000675 HP:0000675 owl:Class MONDO:0006851 biolink:NamedThing meconium aspiration syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. tmpte7i6ely_mondo_relaxed.owl meconium aspiration|aspiration syndrome, meconium|MAS|neonatal aspiration of meconium|syndrome, meconium aspiration|aspiration, meconium|meconium aspiration syndrome|meconium inhalation GARD:0010494|ICD9:770.1|MESH:D008471|UMLS:C0025048|ICD10:P24.00|NCIT:C87093|ICD10:P24.0|ICD10:P24.01|DOID:11049|MedDRA:10027057|SCTID:206292002|EFO:1001037|Orphanet:70588 Editor note: ORDO says this is rare, yet NCIT says 5-10% of births owl:Class MONDO:0014815 biolink:NamedThing intellectual disability, autosomal recessive 52 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. tmpte7i6ely_mondo_relaxed.owl MRT52|intellectual disability, autosomal recessive 52|mental retardation, autosomal recessive 52|intellectual disability, autosomal recessive type 52|mental retardation, autosomal recessive type 52|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L|LMAN2L autosomal recessive non-syndromic intellectual disability OMIM:616887|UMLS:C4225168 owl:Class MONDO:0020374 biolink:NamedThing cerulean cataract Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens. tmpte7i6ely_mondo_relaxed.owl blue-dot cataract|cataract, congenital, cerulean type 1|cataract, congenital, blue dot type 1 OMIM:115660|SCTID:204138006|GARD:0009508|ICD10:Q12.0|MESH:C537955|Orphanet:98989|OMIM:614422|ICD9:743.39 owl:Class MONDO:0002924 biolink:NamedThing smooth muscle cancer A malignant neoplasm arising from smooth muscle. tmpte7i6ely_mondo_relaxed.owl cancer of smooth muscle|malignant neoplasm of smooth muscle|cancer of the smooth muscle|smooth muscle cancer|malignant tumor of the smooth muscle|malignant neoplasm of the smooth muscle|malignant smooth muscle tumor|malignant tumor of smooth muscle|malignant smooth muscle neoplasm DOID:4230|NCIT:C6511|UMLS:C1334620 owl:Class MONDO:0008870 biolink:NamedThing bird headed-dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. tmpte7i6ely_mondo_relaxed.owl premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism with features of premature senility|microcephalic primordial dwarfism, Montreal type|Bird-headed dwarfism, Montreal type UMLS:C1859468|ICD10:Q87.1|OMIM:210700|GARD:0000895|Orphanet:2617|MESH:C535448 owl:Class CHEBI:33837 biolink:NamedThing conjugated protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. tmpte7i6ely_mondo_relaxed.owl conjugated proteins|complex protein owl:Class HGNC:14581 biolink:NamedThing PINK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006435 biolink:NamedThing submandibular gland adenocarcinoma An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the submandibular gland|adenocarcinoma of submandibular gland|submandibular gland adenocarcinoma EFO:1000554|NCIT:C5940|UMLS:C1336521 owl:Class MONDO:0011689 biolink:NamedThing dyslexia, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl DYX6|dyslexia, susceptibility to, 6 OMIM:606616 owl:Class MONDO:0005489 biolink:NamedThing dyslexia A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. tmpte7i6ely_mondo_relaxed.owl dyslexia|dyslexia (disease) dyslexia (disease) DOID:4428|OMIM:600202|OMIM:604254|OMIM:606616|OMIM:606896|HP:0010522|NCIT:C96410|OMIM:127700|SCTID:52824009|EFO:0005424|OMIM:608995|OMIM:300509|ICD10:F81.0 owl:Class HGNC:5209 biolink:NamedThing HSD11B2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019693 biolink:NamedThing ribose phosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. tmpte7i6ely_mondo_relaxed.owl ribose phosphate metabolism owl:Class BFO:0000027 biolink:NamedThing object aggregate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000863 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. tmpte7i6ely_mondo_relaxed.owl myopathy with lactic acidosis and sideroblastic anemia|myopathy, lactic acidosis, and siderblastic anemia|MLASA|myopathy, lactic acidosis and sideroblastic anemia|MSA|mitochondrial myopathy and sideroblastic anemia|sideroblastic anemia and mitochondrial myopathy OMIM:500011|MESH:C536101|Orphanet:2598|ICD10:G71.3|OMIM:600462|OMIMPS:600462|GARD:0003885|OMIM:613561|UMLS:CN220387|DOID:0080099|SCTID:724138007 owl:Class MONDO:0007413 biolink:NamedThing Cyprus facial-neuromusculoskeletal syndrome Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects. tmpte7i6ely_mondo_relaxed.owl unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects|CYPRUS facial neuromusculoskeletal syndrome MESH:C536229|SCTID:732261005|Orphanet:2674|GARD:0009487|ICD10:Q87.8|UMLS:C1852396|OMIM:123853 https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome owl:Class MONDO:0014877 biolink:NamedThing myopathy, distal, 5 Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene. tmpte7i6ely_mondo_relaxed.owl myopathy, distal, type 5|distal myopathy caused by mutation in ADSSL1|ADSSL1 distal myopathy|myopathy, distal, 5; MPD5|myopathy, distal, 5|MPD5 UMLS:C4310754|OMIM:617030 owl:Class MONDO:0012122 biolink:NamedThing moyamoya disease 3 tmpte7i6ely_mondo_relaxed.owl Moyamoya disease 3|MYMY3 OMIM:608796|MESH:C536993|UMLS:C1837418|Orphanet:2573 owl:Class MONDO:0011644 biolink:NamedThing pars planitis An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. tmpte7i6ely_mondo_relaxed.owl pars plana of ciliary bodyitis|posterior cyclitis|pars planitis|pars plana of ciliary body inflammation|peripheral retinal inflammation|familial pars planitis (subtype)|inflammation of pars plana of ciliary body OMIM:606177|GARD:0007339|EFO:1001088|DOID:12731|NCIT:C34903|MedDRA:10034052|ICD10:H30.2|ICD9:363.21|SCTID:314428001|MESH:D015868|UMLS:C0030593 owl:Class MONDO:0007882 biolink:NamedThing lattice degeneration of retina leading to retinal detachment tmpte7i6ely_mondo_relaxed.owl lattice degeneration of retina leading to retinal detachment MESH:C563633|OMIM:150500|UMLS:C1835491 owl:Class MONDO:0015430 biolink:NamedThing ring chromosome 1 Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. tmpte7i6ely_mondo_relaxed.owl chromosome 1, ring|Ring chromosome type 1|chromosome 1 ring|R1|Ring chromosome 1 syndrome|Ring 1|r(1) syndrome SCTID:47017007|ICD10:Q93.2|GARD:0001320|GTR:AN0102272|Orphanet:1437|UMLS:CN036412|MESH:C535361|NCIT:C36474 owl:Class MONDO:0002329 biolink:NamedThing testicular disorder A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. tmpte7i6ely_mondo_relaxed.owl disorder of testis|disease of testis|testis disorder|testis disease or disorder|testicular disease|disease or disorder of testis|testis disease|testicular disorder UMLS:C0039584|ICD9:608.89|MESH:D013733|NCIT:C26890|DOID:2519|SCTID:64910008 owl:Class MONDO:0008919 biolink:NamedThing systemic primary carnitine deficiency disease Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. tmpte7i6ely_mondo_relaxed.owl Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|Carnitine transporter, plasma-Membrane, deficiency of|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|Carnitine deficiency, primary|renal carnitine transport defect|Carnitine transporter defect|Carnitine plasma-membrane transporter deficiency|CARNITINE deficiency, systemic primary|primary carnitine deficiency|systemic primary carnitine deficiency|SPCD|deficiency of plasma-membrane carnitine transporter|systemic Carnitine deficiency|carnitine uptake defect|Carnitine uptake deficiency|cud|systemic primary carnitine deficiency disease|carnitine transporter deficiency|Carnitine deficiency|CDSP|Carnitine uptake defect ICD9:277.81|ICD10:E71.3|ICD10:E71.41|ICD10:E71.42|NCIT:C98864|GARD:0005104|DOID:14365|Orphanet:158|UMLS:C0342788|MESH:C536778|SCTID:21764004|ICD9:277.82|OMIM:212140 owl:Class UBERON:0009584 biolink:NamedThing 1st arch mandibular mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011835 biolink:NamedThing sensory ataxic neuropathy, dysarthria, and ophthalmoparesis A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. tmpte7i6ely_mondo_relaxed.owl PRICKLE2 progressive myoclonic epilepsy|PME type 5|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|EPM5|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|epilepsy, progressive myoclonic, 5|progressive myoclonic epilepsy caused by mutation in PRICKLE2|epilepsy, progressive myoclonic, 5, formerly|SANDO|sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|spinocerebellar ataxia with epilepsy|progressive myoclonus epilepsy type 5|epilepsy, progressive myoclonic, type 5 UMLS:C1843851|Orphanet:254881|OMIM:613832|Orphanet:402082|Orphanet:70595|DOID:0111276|GARD:0009998|ICD10:G40.3|UMLS:C1843852|ICD10:G71.3|UMLS:CN226157|OMIM:607459 owl:Class CHEBI:36344 biolink:NamedThing hadron Hadron is a subatomic particle which experiences the strong force. tmpte7i6ely_mondo_relaxed.owl hadrons owl:Class MONDO:0012039 biolink:NamedThing myocardial infarction, susceptibility to tmpte7i6ely_mondo_relaxed.owl myocardial infarction, protection against|myocardial infarction, susceptibility to|susceptibility to myocardial infarction|myocardial infarction, susceptibility to, 1 OMIM:608446 owl:Class UBERON:0002328 biolink:NamedThing notochord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003175 biolink:NamedThing salivary gland adenoid cystic carcinoma An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. tmpte7i6ely_mondo_relaxed.owl adenoid cystic carcinoma of salivary gland|salivary gland adenoid cystic cancer|saliva-secreting gland adenoid cystic carcinoma|cylindroma (morphologic abnormality)|adenoid cystic carcinoma (morphologic abnormality)|adenoid cystic carcinoma of the salivary gland|salivary gland adenoid cystic carcinoma|adenoid cystic cancer DOID:4866|SCTID:422833009|GARD:0012346|NCIT:C8026|MESH:D003528|UMLS:C0279751|UMLS:C0010606 owl:Class MONDO:0004422 biolink:NamedThing cerebral falx meningioma A meningioma that affects the falx cerebri. tmpte7i6ely_mondo_relaxed.owl meningioma of the falx cerebri|meningioma of cerebral falx|falx cerebri meningioma|falx cerebri meningioma (disease)|meningioma of the falx of the cerebrum|meningioma of the cerebral falx|Falcine meningioma|meningioma (disease) of falx cerebri|meningioma of falx of cerebrum|meningioma of falx cerebri NCIT:C5267|DOID:7986|UMLS:C1333597 owl:Class MONDO:0002997 biolink:NamedThing anterior cranial fossa meningioma A meningioma that affects the anterior cranial fossa. tmpte7i6ely_mondo_relaxed.owl meningioma of anterior fossa|anterior cranial fossa meningioma (disease)|meningioma (disease) of anterior cranial fossa|meningioma of the anterior fossa|meningioma of the anterior cranial fossa|anterior fossa meningioma|meningioma of anterior cranial fossa DOID:4436|UMLS:C1332301|NCIT:C5286 owl:Class HGNC:923 biolink:NamedThing B3GAT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015033 biolink:NamedThing ABeta amyloidosis, dutch type Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. tmpte7i6ely_mondo_relaxed.owl hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA, Dutch type|cerebral amyloid angiopathy, APP-related, Dutch variant|HCHWA-D|ABetaE22Q amyloidosis SCTID:56453003|ICD10:I68.0*|Orphanet:100006|ICD9:277.39|OMIM:605714|ICD10:E85.4+ owl:Class HGNC:9020 biolink:NamedThing PKLR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012183 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl susceptibility to cutaneous malignant melanoma 3|melanoma, cutaneous malignant, susceptibility to, 3|melanoma, cutaneous malignant, susceptibility to, type 3|CMM3 OMIM:609048|Orphanet:618 owl:Class MONDO:0004597 biolink:NamedThing pulmonary embolism and infarction Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. tmpte7i6ely_mondo_relaxed.owl lung infarction|pulmonary infarction|infarction, pulmonary ICD9:415.1|DOID:8516|ICD9:415.19|MESH:D054060|EFO:1001408|NCIT:C50714|SCTID:64662007 Editor note: add terms for pulmonary necrosis owl:Class MONDO:0004595 biolink:NamedThing acute pulmonary heart disease tmpte7i6ely_mondo_relaxed.owl DOID:8514|SCTID:67189007|UMLS:C0155671|ICD9:415 owl:Class MONDO:0007799 biolink:NamedThing hypophosphatemic bone disease tmpte7i6ely_mondo_relaxed.owl hypophosphatemic bone disease|HBD OMIM:146350|MESH:C564145|UMLS:C1840321 owl:Class MONDO:0100144 biolink:NamedThing Uner Tan Syndrome A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations. tmpte7i6ely_mondo_relaxed.owl recessive quadrupedalism owl:Class ENVO:03000033 biolink:NamedThing marine sediment Sediment which has been transported through the marine water column, settling on the seafloor. tmpte7i6ely_mondo_relaxed.owl marine sediments owl:Class MONDO:0008974 biolink:NamedThing Greenberg dysplasia A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. tmpte7i6ely_mondo_relaxed.owl hem dysplasia|hem skeletal dysplasia|Greenberg dysplasia|moth-eaten skeletal dysplasia|skeletal dysplasia, Greenberg type|hydrops, ectopic calcification, moth-eaten skeletal dysplasia|hem|GRBGD|autosomal recessive lethal chondrodystrophy with congenital hydrops|chondrodystrophy, hydropic and prenatally lethal type|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|Greenberg skeletal dysplasia|hem/Greenberg dysplasia ICD10:Q77.3|Orphanet:1426|UMLS:C2931048|SCTID:389261002|OMIM:215140|UMLS:CN199524|MESH:C535858|DOID:0111588|GARD:0008754 https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia owl:Class MONDO:0002112 biolink:NamedThing benign peritoneal mesothelioma A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent. tmpte7i6ely_mondo_relaxed.owl peritoneal adenomatoid tumor|mesothelioma of peritoneum|peritoneum benign mesothelioma DOID:1789|NCIT:C7633|NCIT:C7354 owl:Class MONDO:0000650 biolink:NamedThing peritoneal benign neoplasm A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis. tmpte7i6ely_mondo_relaxed.owl peritoneum benign neoplasm|benign peritoneal neoplasm DOID:0060117|NCIT:C8612|UMLS:C0496874 owl:Class MONDO:0004563 biolink:NamedThing physiological polycythemia Polycythemia that is not pathologic. tmpte7i6ely_mondo_relaxed.owl DOID:8431|NCIT:C27311|UMLS:C0856817 owl:Class MONDO:0005571 biolink:NamedThing polycythemia Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. tmpte7i6ely_mondo_relaxed.owl polycythemia|polycythemia (disease)|erythrocythemia polycythemia (disease) MedDRA:10036051|EFO:0005804|MESH:D011086|Orphanet:98427|DOID:8432|NCIT:C26863|HP:0001901|UMLS:C0032461|ICD10:D75.1 owl:Class MONDO:0018596 biolink:NamedThing systemic polyarteritis nodosa Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement. tmpte7i6ely_mondo_relaxed.owl systemic PAN|systemic periarteritis nodosa ICD10:M30.0|Orphanet:439762|UMLS:CN242146|UMLS:C0031036 owl:Class MONDO:0018593 biolink:NamedThing primary polyarteritis nodosa tmpte7i6ely_mondo_relaxed.owl primary PAN|primary periarteritis nodosa ICD10:M30.0|Orphanet:439737|UMLS:CN237623 owl:Class UBERON:0003432 biolink:NamedThing chest nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004480 biolink:NamedThing musculature of limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021207 biolink:NamedThing Crohn jejunitis An Crohn disease involving a pathogenic inflammatory response in the jejunum. tmpte7i6ely_mondo_relaxed.owl SCTID:91390005|UMLS:C0267379 owl:Class HGNC:9957 biolink:NamedThing RELN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018796 biolink:NamedThing isolated constitutional thrombocytopenia tmpte7i6ely_mondo_relaxed.owl non-syndromic constitutional thrombocytopenia|Cconstitutional thrombocytopenia without extra-hematopoietic manifestation Orphanet:477797 owl:Class MONDO:0006368 biolink:NamedThing phosphaturic mesenchymal tumor An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor. tmpte7i6ely_mondo_relaxed.owl phosphaturic mesenchymal tumor, mixed connective tissue type|phosphaturic mesenchymal tumor, mixed connective tissue variant|phosphaturic mesenchymal tumor UMLS:C1831619|EFO:1000473|NCIT:C67237 owl:Class MONDO:0017082 biolink:NamedThing basal encephalocele tmpte7i6ely_mondo_relaxed.owl UMLS:C4023176|Orphanet:268829|ICD10:Q01.8 owl:Class MONDO:0012645 biolink:NamedThing glaucoma 1, open angle, N tmpte7i6ely_mondo_relaxed.owl JOAG1N|GLC1N|glaucoma 1, open angle, N Orphanet:98977|MESH:C566977|UMLS:C1969812|OMIM:611274 owl:Class MONDO:0020367 biolink:NamedThing juvenile open angle glaucoma Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. tmpte7i6ely_mondo_relaxed.owl glaucoma (disease) of childhood|childhood glaucoma (disease)|pediatric glaucoma (disease)|juvenile glaucoma|JOAG|glaucoma of childhood ICD9:365.14|OMIM:608695|OMIM:137750|UMLS:C2981140|MedDRA:10064032|DOID:1068|Orphanet:98977|OMIM:611274|SCTID:71111008|OMIM:608696|OMIM:231300|OMIM:610535 owl:Class MONDO:0700020 biolink:NamedThing chromosome 13 disorder Chromosomal disorder in which chromosome 13 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0019102 biolink:NamedThing dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Orphanet:71267|UMLS:CN205609|SCTID:721089006 owl:Class MONDO:0060650 biolink:NamedThing Leber congenital amaurosis with early-onset deafness tmpte7i6ely_mondo_relaxed.owl LCAEOD|Leber congenital amaurosis with early-onset deafness OMIM:617879|UMLS:CN807950 owl:Class HGNC:18621 biolink:NamedThing COG6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:4000162 biolink:NamedThing median fin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005436 biolink:NamedThing postoperative ventricular dysfunction Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality. tmpte7i6ely_mondo_relaxed.owl EFO:0004889 owl:Class ECTO:9000404 biolink:NamedThing exposure to nitrogen An exposure to nitrogen molecular entity. tmpte7i6ely_mondo_relaxed.owl exposure to nitrogen molecular entity owl:Class CL:0002483 biolink:NamedThing hair follicle melanocyte A melanocyte that produces pigment within the hair follicle. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-12-03T03:17:09Z cell owl:Class GO:0051246 biolink:NamedThing regulation of protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpte7i6ely_mondo_relaxed.owl regulation of protein metabolism owl:Class MONDO:0020338 biolink:NamedThing adult pure red cell aplasia Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. tmpte7i6ely_mondo_relaxed.owl idiopathic pure red cell aplasia|adult pure red-cell aplasia|acquired PRCA|pure red-cell aplasia of adults|acquired pure red cell aplasia SCTID:765748009|Orphanet:98872|UMLS:C0340961|GARD:0010898|ICD10:D60.0|NCIT:C70548 owl:Class MONDO:0001705 biolink:NamedThing pure red-cell aplasia A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. tmpte7i6ely_mondo_relaxed.owl primary red cell aplasia|pure red cell aplasia|PRCA|red cell hypoplasia NCIT:C34974|UMLS:C0034902|GARD:0007504|ICD9:284.81|MESH:D012010|DOID:1340|SCTID:50715003 owl:Class MONDO:0001374 biolink:NamedThing bladder sarcoma A malignant mesenchymal cell neoplasm that affects the urinary bladder. tmpte7i6ely_mondo_relaxed.owl sarcoma of the urinary bladder|sarcoma of bladder|sarcoma of the bladder|bladder sarcoma|sarcoma of urinary bladder|urinary bladder sarcoma NCIT:C4669|DOID:11812|UMLS:C0349666|SCTID:278046008 owl:Class MONDO:0007497 biolink:NamedThing ear antitragus, tag at base of tmpte7i6ely_mondo_relaxed.owl ear antitragus, tag at base of OMIM:128290 owl:Class MONDO:0002518 biolink:NamedThing gallbladder papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present. tmpte7i6ely_mondo_relaxed.owl gall bladder papillary epithelial neoplasm|gallbladder papillary neoplasm|gallbladder papillomatosis|intracystic papillary neoplasm DOID:3120|NCIT:C7130|UMLS:C1333754 owl:Class NCIT:C19683 biolink:NamedThing Personal Behavior The observable response of a person. tmpte7i6ely_mondo_relaxed.owl Personal Conduct|Personal Behavior owl:Class NCIT:C16326 biolink:NamedThing Behavior The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. tmpte7i6ely_mondo_relaxed.owl Behavioral|Conduct|Behavior|Attitude Behavior owl:Class MONDO:0010337 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. tmpte7i6ely_mondo_relaxed.owl MRX60 (formerly)|intellectual disability, X-linked 60|X-linked intellectual disability-cerebellar hypoplasia syndrome|OPHN1- related XLID|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|mental retardation, X-linked 60|Oligophrenin-1 syndrome|intellectual disability, X-linked 60, formerly|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|OPHN1 XLMR, X-linked intellectual disability|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual Deficit with cerebellar Hypoplasia|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|mental retardation, X-linked 60, formerly|OPHN1 deficiency|intellectual disability x-linked 60 (formerly)|mental retardation x-linked 60 (formerly)|OPHN1 XLMR|OPHN1 syndrome GARD:0013093|MESH:C537456|DOID:0080311|SCTID:719136005|OMIM:300486|Orphanet:137831|GARD:0009947|ICD10:Q04.3 https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance owl:Class NCBITaxon:135625 biolink:NamedThing Pasteurellales tmpte7i6ely_mondo_relaxed.owl Pasteruellaceae group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class MONDO:0013792 biolink:NamedThing intracerebral hemorrhage Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. tmpte7i6ely_mondo_relaxed.owl hemorrhage, intracerebral, susceptibility to|ich|stroke, hemorrhagic, susceptibility to ICD9:431|MESH:D002543|OMIM:614519|SCTID:274100004|EFO:0005669 Editor note: consider separate subclass for OMIM ID owl:Class MONDO:0000892 biolink:NamedThing colon medullary carcinoma A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpte7i6ely_mondo_relaxed.owl medullary carcinoma of the colon|colon medullary carcinoma|medullary colon carcinoma NCIT:C60641|ONCOTREE:CMC|DOID:0080183|UMLS:C1880119 owl:Class MONDO:0013462 biolink:NamedThing fucosyltransferase 6 deficiency tmpte7i6ely_mondo_relaxed.owl fucosyltransferase 6 deficiency OMIM:613852|UMLS:C3151219 owl:Class MONDO:0054806 biolink:NamedThing microcephaly 23, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MCPH23|microcephaly 23, PRIMARY, autosomal recessive OMIM:617985|UMLS:CN244932 owl:Class MONDO:0014538 biolink:NamedThing fibrosis of extraocular muscles, congenital, 5 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene. tmpte7i6ely_mondo_relaxed.owl fibrosis of extraocular muscles, congenital, 5|COL25A1 congenital fibrosis of extraocular muscles|congenital fibrosis of extraocular muscles caused by mutation in COL25A1|CFEOM5|fibrosis of extraocular muscles, congenital, type 5 Orphanet:45358|UMLS:C4015552|OMIM:616219 owl:Class MONDO:0008700 biolink:NamedThing acheiropody Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. tmpte7i6ely_mondo_relaxed.owl horn-Kolb syndrome|acheiropody|acheiropodia|ACHP|acheiropody, Brazilian type GARD:0000376|DOID:0050603|Orphanet:931|SCTID:177504007|MESH:C536014|OMIM:200500|ICD10:Q74.8 owl:Class MONDO:0100082 biolink:NamedThing LEOPARD syndrome 1 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. tmpte7i6ely_mondo_relaxed.owl multiple lentigines syndrome|LEOPARD syndrome 1|LEOPARD syndrome type 1|LPRD1|lentiginosis, cardiomyopathic OMIM:151100|DOID:0080548 owl:Class MONDO:0008545 biolink:NamedThing thalassemia, beta+, silent allele tmpte7i6ely_mondo_relaxed.owl thalassemia, beta+, silent allele UMLS:C1861232|OMIM:187550|MESH:C566065 owl:Class UBERON:0001823 biolink:NamedThing nasal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011641 biolink:NamedThing baculum, congenital absence of tmpte7i6ely_mondo_relaxed.owl baculum, congenital absence of|Os penis, congenital absence of OMIM:606174 owl:Class UBERON:0003230 biolink:NamedThing epithelium of carpal region tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904170 biolink:NamedThing regulation of bleb assembly Any process that modulates the frequency, rate or extent of bleb assembly. tmpte7i6ely_mondo_relaxed.owl regulation of cell blebbing owl:Class HP:0001369 biolink:NamedThing Arthritis Inflammation of a joint. tmpte7i6ely_mondo_relaxed.owl Arthritis|Joint inflammation UMLS:C0003864|MSH:D001168|SNOMEDCT_US:3723001 human_phenotype owl:Class HP:0001367 biolink:NamedThing Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. tmpte7i6ely_mondo_relaxed.owl Abnormality of the joints|Abnormal shape of joints|Joint disease|Anomaly of the joints UMLS:C0022408|SNOMEDCT_US:399269003|MSH:D007592|UMLS:C0240083 human_phenotype owl:Class MONDO:0014263 biolink:NamedThing 8q24.3 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl Verheij syndrome|VRJS|chromosome 8Q24.3 deletion syndrome GARD:0012814|OMIM:615583|UMLS:C3810023|Orphanet:508488 owl:Class MONDO:0016447 biolink:NamedThing white fibrous papulosis of the neck White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. tmpte7i6ely_mondo_relaxed.owl Orphanet:228290|UMLS:CN226935 owl:Class UBERON:0006306 biolink:NamedThing ulna cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0055080 biolink:NamedThing cation homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:139592 biolink:NamedThing tertiary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. tmpte7i6ely_mondo_relaxed.owl tertiary alpha-hydroxyketone|tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxy ketones|tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxyketones owl:Class MONDO:0005611 biolink:NamedThing bladder transitional cell carcinoma The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. tmpte7i6ely_mondo_relaxed.owl urinary bladder transitional cell carcinoma|bladder transitional cell carcinoma|BLCA|transitional cell carcinoma of bladder|urinary bladder urothelial carcinoma|urothelial bladder carcinoma|urothelial carcinoma of the urinary bladder|transitional cell carcinoma of the urinary bladder|bladder urothelial carcinoma|bladder urothelial cancer UMLS:C0279680|EFO:0006544|NCIT:C39851|DOID:4006|SCTID:255109008|ONCOTREE:BLCA owl:Class MONDO:0021288 biolink:NamedThing carcinoma in situ of hypopharynx A in situ carcinoma that involves the hypopharynx. tmpte7i6ely_mondo_relaxed.owl carcinoma in situ of hypopharynx|hypopharyngeal carcinoma in situ|carcinoma in situ of the hypopharynx|stage 0 hypopharyngeal carcinoma in situ|stage 0 carcinoma of the hypopharynx|hypopharynx carcinoma in situ|stage 0 hypopharyngeal carcinoma aJCC v8|stage 0 hypopharyngeal carcinoma|stage 0 hypopharyngeal throat cancer|stage 0 hypopharyngeal cancer|stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|hypopharynx in situ carcinoma|stage 0 hypopharyngeal carcinoma aJCC v6|stage 0 carcinoma of hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharynx carcinoma NCIT:C9101|UMLS:C4331310|SCTID:92612007|UMLS:C0347100 owl:Class MONDO:0010521 biolink:NamedThing amelogenesis imperfecta type 1E Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta X-linked 1|AMELX amelogenesis imperfecta|enamel hypoplasia, X-linked|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|amelogenesis imperfecta, type 1E|amelogenesis imperfecta type IE|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|amelogenesis imperfecta, X-linked 1|amelogenesis imperfecta caused by mutation in AMELX|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|X-linked amelogenesis imperfecta 1|AIH1|AI1E|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|amelogenesis imperfecta, type IE|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|enamel hypoplasia X-linked|X-linked enamel hypoplasia Orphanet:100033|OMIM:301200|ICD10:K00.5|GARD:0009943|DOID:0110058 Editor note: https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1 owl:Class CL:0000072 biolink:NamedThing non-branched duct epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class CHEBI:50334 biolink:NamedThing pyridinium ion tmpte7i6ely_mondo_relaxed.owl pyridinium ions owl:Class MONDO:0009255 biolink:NamedThing galactokinase deficiency Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. tmpte7i6ely_mondo_relaxed.owl galactokinase deficiency|galactosemia 2|GALK deficiency|hereditary galactokinase deficiency|Galk deficiency|GALK-D|galactosemia II|galactosemia type 2|galactokinase deficiency galactosemia NCIT:C114767|MESH:D005693|SCTID:124302001|DOID:14695|Orphanet:352|UMLS:C0268155|GARD:0002422|Orphanet:79237|ICD10:E74.29|ICD10:E74.2|OMIM:230200 https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency owl:Class MONDO:0018116 biolink:NamedThing galactosemia Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. tmpte7i6ely_mondo_relaxed.owl galactose intolerance|galactosemia|galactosaemia ICD9:271.1|OMIM:230350|MESH:D005693|UMLS:C0016952|DOID:9870|Orphanet:352|OMIMPS:230400|MedDRA:10017604|ICD10:E74.2|GARD:0002424|OMIM:230200|SCTID:190745006|ICD10:E74.21|OMIM:230400|NCIT:C84723 owl:Class GO:0060406 biolink:NamedThing positive regulation of penile erection Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060405 biolink:NamedThing regulation of penile erection Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2560525 biolink:NamedThing Human orthorubulavirus 2 tmpte7i6ely_mondo_relaxed.owl Human parainfluenza virus type 2|Human rubulavirus 2|human parainfluenza virus|Human parainfluenza virus 2|Parainfluenza virus type 2|PIV-2|HPIV-2|Human parainfluenza 2 virus|HPIV2 GC_ID:1 NCBITaxon:1979160|NCBITaxon:11212|NCBITaxon:11199 ncbi_taxonomy owl:Class NCBITaxon:2560195 biolink:NamedThing Orthorubulavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0000764 biolink:NamedThing erythroid lineage cell A immature or mature cell in the lineage leading to and including erythrocytes. tmpte7i6ely_mondo_relaxed.owl erythropoietic cell CALOHA:TS-0290|FMA:83516|FMA:62845 Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. CL:0002156 cell owl:Class CHEBI:38925 biolink:NamedThing benzopteridine tmpte7i6ely_mondo_relaxed.owl benzopteridines owl:Class MONDO:0012284 biolink:NamedThing nephropathy, progressive, with deafness tmpte7i6ely_mondo_relaxed.owl Alport/focal segmental glomerulosclerosis-like syndrome|nephropathy, progressive, with deafness|Nede UMLS:C1836119|OMIM:609469|MESH:C563713 owl:Class MONDO:0005250 biolink:NamedThing placental villitis Inflammatory process that involves the chorionic villi (villitis) of the placenta. tmpte7i6ely_mondo_relaxed.owl SCTID:388604008|EFO:0003110|UMLS:C1270169 owl:Class GO:1900048 biolink:NamedThing positive regulation of hemostasis Any process that activates or increases the frequency, rate or extent of hemostasis. tmpte7i6ely_mondo_relaxed.owl activation of hemostasis|upregulation of hemostasis|up-regulation of hemostasis|up regulation of hemostasis owl:Class UBERON:2002067 biolink:NamedThing upper hypural set tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014298 biolink:NamedThing chromosome 5q12 deletion syndrome PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. tmpte7i6ely_mondo_relaxed.owl chromosome 5q12 deletion syndrome|PDE4D haploinsufficiency syndrome OMIM:615668|Orphanet:439822|UMLS:C3810282|DOID:0060421 owl:Class MONDO:0700003 biolink:NamedThing obstetric disorder Disorder associated with pregnancy, childbirth, and puerperium. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0012072 biolink:NamedThing familial partial lipodystrophy, Kobberling type Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. tmpte7i6ely_mondo_relaxed.owl familial partial lipodystrophy type 1|FPLD1|familial partial lipodystrophy type Köbberling|familial partial lipodystrophy, Köbberling type|lipodystrophy, familial partial, Kobberling type|lipodystrophy, familial partial, type 1 ICD10:E88.1|DOID:0070207|SCTID:725035001|GARD:0012598|Orphanet:79084|OMIM:608600 owl:Class GO:0043069 biolink:NamedThing negative regulation of programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpte7i6ely_mondo_relaxed.owl downregulation of programmed cell death|down regulation of programmed cell death|negative regulation of non-apoptotic programmed cell death|down-regulation of programmed cell death|inhibition of programmed cell death owl:Class NCBITaxon:34622 biolink:NamedThing Haemaphysalis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012406 biolink:NamedThing hyperparathyroidism 3 tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism 3|HRPT3|hyperparathyroidism, familial isolated MESH:C566450|OMIM:610071|Orphanet:99879|UMLS:C1864729 owl:Class HP:0030809 biolink:NamedThing Abnormal tongue morphology Any structural anomaly of the tongue. tmpte7i6ely_mondo_relaxed.owl UMLS:C4280755 human_phenotype owl:Class HP:0000157 biolink:NamedThing Abnormality of the tongue Any abnormality of the tongue. tmpte7i6ely_mondo_relaxed.owl Tongue abnormality|Lingual abnormality|Abnormality of the tongue|Abnormal tongue|Glossal abnormality UMLS:C0878638 human_phenotype owl:Class MONDO:0008767 biolink:NamedThing neuronal ceroid lipofuscinosis 3 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpte7i6ely_mondo_relaxed.owl Spielmeyer-Sjogren disease|ceroid lipofuscinosis, neuronal, 3|CLN3|neuronal ceroid lipofuscinosis caused by mutation in CLN3|neuronal ceroid lipofuscinosis, juvenile|Spielmeyer Sjogren disease|ceroid lipofuscinosis, neuronal, type 3|batten disease|CLN3 disease|Vogt-Spielmeyer disease|Vogt Spielmeyer disease|neuronal ceroid lipofuscinosis type 3|CLN3 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis 3|CLN3 disease, juvenile DOID:0110731|NCIT:C61258|ICD10:E75.4|GARD:0005897|Orphanet:228346|OMIM:204200|Orphanet:79264 owl:Class UBERON:0005095 biolink:NamedThing kidney rudiment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012191 biolink:NamedThing hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 1|Hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to combined oxidative phosphorylation defect type 1|combined oxidative phosphorylation deficiency 1|Hepatoencephalopathy due to COXPD1|COXPD1|combined oxidative phosphorylation deficiency caused by mutation in GFM1|GFM1 combined oxidative phosphorylation deficiency NCIT:C125663|DOID:0111474|OMIM:609060|Orphanet:137681|SCTID:764962002|UMLS:C1836797|ICD10:E88.8|MESH:C563797 owl:Class MONDO:0022646 biolink:NamedThing cardiofacial syndrome short limbs tmpte7i6ely_mondo_relaxed.owl GARD:0001097 https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs owl:Class MONDO:0011249 biolink:NamedThing torsion dystonia with onset in infancy A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. tmpte7i6ely_mondo_relaxed.owl torsion dystonia with onset in infancy MESH:C536969|UMLS:C1865205|DOID:0090058|OMIM:602554|ICD10:G24.1|Orphanet:256 owl:Class MONDO:0012998 biolink:NamedThing faciocardiomelic syndrome tmpte7i6ely_mondo_relaxed.owl faciocardiomelic syndrome UMLS:C2674798|OMIM:612731|MESH:C567176 owl:Class MONDO:0019056 biolink:NamedThing neuromuscular disease Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions tmpte7i6ely_mondo_relaxed.owl nerve and muscle disorder|neuromuscular disease DOID:440|MedDRA:10029323|EFO:1001902|ICD9:358.9|UMLS:C0027868|ICD9:358|Orphanet:68381|MESH:D009468|ICD10:G70.9 owl:Class MONDO:0000649 biolink:NamedThing sensory system cancer A malignant neoplasm involving the sensory system tmpte7i6ely_mondo_relaxed.owl malignant sensory system neoplasm|sensory system cancer|cancer of sensory system|malignant neoplasm of sensory system DOID:0060116 owl:Class MONDO:0004360 biolink:NamedThing breast extraskeletal osteosarcoma An osteosarcoma arising from the breast tissue. tmpte7i6ely_mondo_relaxed.owl osteogenic sarcoma of breast|breast osteosarcoma|osteogenic sarcoma of the breast|osteogenic breast sarcoma|breast osteosarcoma (disease)|breast extraskeletal osteosarcoma|osteosarcoma of the breast|osteosarcoma of breast DOID:7787|UMLS:C1335149|NCIT:C5189 owl:Class MONDO:0023006 biolink:NamedThing doxorubicin induced cardiomyopathy tmpte7i6ely_mondo_relaxed.owl GARD:0006285 https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy owl:Class UBERON:0005410 biolink:NamedThing cartilaginous otic capsule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0040500 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 16 tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 62|GPIBD16|glycosylphosphatidylinositol biosynthesis defect 16|mental retardation, autosomal recessive 62 OMIM:617816 owl:Class FOODON:03411201 biolink:NamedThing dairy cow A dairy cow is an adult female member of a dairy cattle breed tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032831 biolink:NamedThing pontocerebellar hypoplasia, type 13 tmpte7i6ely_mondo_relaxed.owl PONTOCEREBELLAR HYPOPLASIA, TYPE 13|PCH13 OMIM:618606 owl:Class MONDO:0036918 biolink:NamedThing punctate acrokeratoderma freckle-like pigmentation tmpte7i6ely_mondo_relaxed.owl Orphanet:99710 owl:Class MONDO:0021023 biolink:NamedThing complete androgen insensitivity syndrome Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. tmpte7i6ely_mondo_relaxed.owl CAIS|androgen insensitivity syndrome, complete|complete androgen resistance syndrome NCIT:C120191|UMLS:CN207337|Orphanet:99429|SCTID:368851000119102|OMIM:300274|ICD10:E34.51|OMIM:300068|GARD:0010597|ICD10:E34.5 https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome owl:Class MONDO:0019154 biolink:NamedThing androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). tmpte7i6ely_mondo_relaxed.owl testicular feminization syndrome (formerly)|testicular feminization syndrome|DHTR deficiency|androgen-insensitivity syndrome|androgen insensitivity syndrome|Morris syndrome|androgen resistance syndrome|AR deficiency|testicular feminization|AIS|dihydrotestosterone receptor deficiency|Goldberg-Maxwell syndrome|Goldberg - Maxwell syndrome|Feminisation - testicular|androgen receptor deficiency SCTID:12313004|Orphanet:754|ICD10:E34.50|MedDRA:10056292|GARD:0005803|ICD9:259.5|ICD9:259.8|NCIT:C27226|SCTID:368851000119102|DOID:4674|ICD9:259.51|ICD10:E34.51|OMIM:300068|UMLS:C0039585|ICD10:E34.5|MESH:D013734|NCIT:C120191 https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome owl:Class MONDO:0016122 biolink:NamedThing periodic paralysis tmpte7i6ely_mondo_relaxed.owl periodic paralysis|periodic paralysis (disease) periodic paralysis (disease) HP:0003768|UMLS:C1279412|Orphanet:206976|MedDRA:10016208|ICD10:G72.3|UMLS:CN231077 Editor note: classified as genetic in ORDO but we treat as neutral here owl:Class MONDO:0014749 biolink:NamedThing tooth agenesis, selective, 7 Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. tmpte7i6ely_mondo_relaxed.owl tooth agenesis, selective, 7; STHAG7|STHAG7|tooth agenesis caused by mutation in LRP6|LRP6 tooth agenesis|tooth agenesis, selective, 7|tooth agenesis, selective, type 7 OMIM:616724|UMLS:C4225231 owl:Class HP:0001882 biolink:NamedThing Leukopenia An abnormal decreased number of leukocytes in the blood. tmpte7i6ely_mondo_relaxed.owl Low white blood cell count|Decreased blood leukocyte number UMLS:C0023530|MSH:D007970|SNOMEDCT_US:84828003 human_phenotype owl:Class MONDO:0000338 biolink:NamedThing variola major infectious disease tmpte7i6ely_mondo_relaxed.owl variola major DOID:0050508|UMLS:C1812609|SCTID:47452006|ICD9:050.0 owl:Class MONDO:0000723 biolink:NamedThing stutter disorder A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. tmpte7i6ely_mondo_relaxed.owl stammering|stuttering|stutter|stuttering, familial persistent|familial persistent stuttering OMIM:614668|OMIMPS:184450|OMIM:609261|DOID:0060243|OMIM:614655|NCIT:C35043|OMIM:184450|ICD10:F80.81 Editor note: check this; consider subclass for familial owl:Class MONDO:0004662 biolink:NamedThing heterophyiasis An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. tmpte7i6ely_mondo_relaxed.owl Heterophyes infectious disease|infections, Heterophyes|Heterophyes infection NCIT:C128389|UMLS:C0152071|DOID:882|ICD9:121.6|SCTID:22905009|ICD10:B66.8 owl:Class OBO:CHR_9606-chrXp11.3 biolink:NamedThing Xp11.3 (Human) tmpte7i6ely_mondo_relaxed.owl 47600000 42500000 hg38 owl:Class MONDO:0043083 biolink:NamedThing coronal synostosis, syndactyly and jejunal atresia tmpte7i6ely_mondo_relaxed.owl asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia MESH:C536445|UMLS:C2931194|GARD:0001532 owl:Class HGNC:8609 biolink:NamedThing PARN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009731 biolink:NamedThing nephrosis-deafness-urinary tract-digital malformations syndrome Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. tmpte7i6ely_mondo_relaxed.owl Braun-Bayer syndrome|nephrosis deafness urinary tract digital malformation|nephrosis with deafness and urinary tract and digital malformations OMIM:256200|ICD10:Q87.8|UMLS:C1850552|Orphanet:2669|GARD:0003943|MESH:C536402 owl:Class MONDO:0000377 biolink:NamedThing malignant Leydig cell tumor A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course. tmpte7i6ely_mondo_relaxed.owl malignant interstitial cell tumor|Leydig cell tumor, malignant|malignant neoplasm of Leydig cell|cancer of Leydig cell|malignant Leydig cell neoplasm|malignant interstitial cell neoplasm|Leydig cell cancer DOID:0050616|ICDO:8650/3|NCIT:C4213|UMLS:C0334410 owl:Class MONDO:0016430 biolink:NamedThing Balo concentric sclerosis Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity. tmpte7i6ely_mondo_relaxed.owl Balo's concentric sclerosis|diffuse cerebral sclerosis of Schilder|Balo disease|Marburg variant|Balo's disease|encephalitis periaxialis concentrica|Balo concentric sclerosis|Baló concentric sclerosis|Tumefactive multiple sclerosis|concentric demyelination Orphanet:228165|SCTID:20415001|UMLS:C0004712|ICD9:341.1|SCTID:49692006|DOID:0060215|GARD:0005885|UMLS:C0205710|ICD10:G37.5|ICD10:G31.81|ICD10:G37.0|UMLS:C0007795|NCIT:C35257|SCTID:230380005|MedDRA:10010252 https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis owl:Class MONDO:0033492 biolink:NamedThing Coffin-Siris syndrome 6 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene. tmpte7i6ely_mondo_relaxed.owl Coffin-Siris syndrome 6|CSS6|COFFIN-SIRIS syndrome 6|ARID2-related BAFopathy DOID:0080297|UMLS:CN696018|OMIM:617808 owl:Class NCBITaxon:6854 biolink:NamedThing Arachnida tmpte7i6ely_mondo_relaxed.owl arachnids GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6843 biolink:NamedThing Chelicerata tmpte7i6ely_mondo_relaxed.owl chelicerates GC_ID:1 ncbi_taxonomy owl:Class HGNC:1512 biolink:NamedThing CASQ1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022296 biolink:NamedThing inferior palpebral branch of infra-orbital nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5344 biolink:NamedThing ICAM1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:372083 biolink:NamedThing Diphyllobothrium cordatum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0056815 biolink:NamedThing liver adenosquamous carcinoma A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. tmpte7i6ely_mondo_relaxed.owl liver adenosquamous carcinoma|liver adenosquamous cancer NCIT:C118630|UMLS:C3898586 owl:Class HP:0000870 biolink:NamedThing Increased circulating prolactin concentration The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. tmpte7i6ely_mondo_relaxed.owl Hyperprolactinemia|Prolactin excess|Hyperprolactinaemia MSH:D006966|UMLS:C0020514|SNOMEDCT_US:237662005 human_phenotype owl:Class UBERON:0012651 biolink:NamedThing mucosa of gastroduodenal junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004873 biolink:NamedThing splanchnopleure tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012219 biolink:NamedThing Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. tmpte7i6ely_mondo_relaxed.owl UMLS:C0014743|SNOMEDCT_US:32861005|MSH:D004893 The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. peter 2013-03-30T06:57:07Z human_phenotype owl:Class MONDO:0030973 biolink:NamedThing immunodeficiency 77 tmpte7i6ely_mondo_relaxed.owl IMD77|immunodeficiency 77 OMIM:619223 owl:Class NCBITaxon:1535325 biolink:NamedThing Candida/Lodderomyces clade tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010343 biolink:NamedThing 2nd arch mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004983 biolink:NamedThing mucosa of vagina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013140 biolink:NamedThing systemic vein tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000113 biolink:NamedThing Polycystic kidney dysplasia The presence of multiple cysts in both kidneys. tmpte7i6ely_mondo_relaxed.owl Polycystic kidney disease|Enlarged polycystic kidneys|Polycystic kidneys SNOMEDCT_US:82525005|Fyler:4508|UMLS:C0022680|MSH:D007690|UMLS:C1567435 Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. HP:0004739|HP:0004716|HP:0004740|HP:0008673|HP:0008645|HP:0008699 human_phenotype owl:Class HP:0000107 biolink:NamedThing Renal cyst A fluid filled sac in the kidney. tmpte7i6ely_mondo_relaxed.owl Kidney cyst|Cystic kidneys|Renal cysts|Cystic kidney disease UMLS:C3887499|MSH:D052177|UMLS:C0022679 HP:0000109|HP:0000088 human_phenotype owl:Class GO:0097447 biolink:NamedThing dendritic tree The entire complement of dendrites for a neuron, consisting of each primary dendrite and all its branches. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043005 biolink:NamedThing neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. tmpte7i6ely_mondo_relaxed.owl neurite|neuron process|nerve fiber|neuron protrusion|neuronal cell projection owl:Class GO:0090155 biolink:NamedThing negative regulation of sphingolipid biosynthetic process Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpte7i6ely_mondo_relaxed.owl negative regulation of sphingolipid biosynthesis involved in cellular sphingolipid homeostasis owl:Class PATO:0000387 biolink:NamedThing soft A hardness quality of giving little resistance to pressure. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000048 biolink:NamedThing hardness A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced tmpte7i6ely_mondo_relaxed.owl impenetrability|toughness owl:Class HP:0001507 biolink:NamedThing Growth abnormality tmpte7i6ely_mondo_relaxed.owl Abnormal growth|Growth abnormality|Growth issue UMLS:C0262361 HP:0008904 human_phenotype owl:Class MONDO:0018955 biolink:NamedThing recurrent respiratory papillomatosis Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. tmpte7i6ely_mondo_relaxed.owl laryngeal papilloma, recurrent|juvenile laryngeal papilloma|juvenile-onset recurrent respiratory papillomatosis (type)|RRP|adult-onset recurrent respiratory papillomatosis (type)|AORRP (type)|recurrent respiratory papillomatosis|respiratory papillomatosis, recurrent|JORRP (type) Orphanet:60032|NCIT:C128637|MedDRA:10059314|MESH:C535297|GARD:0000111|UMLS:C1168198|ICD9:078.19|SCTID:472827002 https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis owl:Class MONDO:0011469 biolink:NamedThing congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. tmpte7i6ely_mondo_relaxed.owl congenital amegakaryocytic thrombocytopenic purpura|amegakaryocytic thrombocytopenia, congenital|thrombocytopenia congenital amegakaryocytic|congenital amegakaryocytic thrombocytopenia|CAMT NCIT:C115207|ICD10:D61.0|MESH:C535982|SCTID:716336002|GARD:640|Orphanet:3319|UMLS:C1327915|GARD:0000640|DOID:0090118|OMIM:604498 https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia owl:Class MONDO:0015265 biolink:NamedThing bronchiolitis obliterans with obstructive pulmonary disease Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. tmpte7i6ely_mondo_relaxed.owl organized pneumonia|obliterative bronchiolitis|BOOP|constrictive bronchiolitis|bronchiolitis obliterans|organizing pneumonia|bronchiolitis fibrosa obliterans|bo|bronchiolitis exudativa ICD9:466.19|NCIT:C62580|GARD:0009551|HP:0011946|Orphanet:1303|SCTID:40100001|ICD9:491.8|UMLS:CN199179|EFO:0007183|DOID:2799|ICD10:J44.8 Editor note: TODO check this MONDO:0005681 owl:Class HP:0012332 biolink:NamedThing Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. tmpte7i6ely_mondo_relaxed.owl Autonomic dysfunction|Autonomic dysregulation|Dysautonomia UMLS:C4022952 peter 2013-09-13T07:53:55Z HP:0002271|HP:0007310|HP:0002459|HP:0002387 human_phenotype owl:Class MONDO:0012965 biolink:NamedThing seizures, benign familial infantile, 4 tmpte7i6ely_mondo_relaxed.owl BFIS4|seizures, benign familial infantile, 4|convulsions, benign familial infantile, 4 MESH:C567231|UMLS:C2675462|OMIM:612627|Orphanet:306 owl:Class MONDO:0017615 biolink:NamedThing benign familial infantile epilepsy Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. tmpte7i6ely_mondo_relaxed.owl benign familial infantile convulsions|seizures, benign familial infantile|benign familial infantile seizures|BFIC|BFIS|BFIE|benign familial infantile convulsion OMIM:605751|OMIM:607745|DOID:0060169|UMLS:CN203492|ICD9:V17.2|GARD:0000857|OMIMPS:601764|OMIM:612627|OMIM:617080|Orphanet:306|SCTID:230410004|OMIM:601764|ICD10:G40.3 owl:Class CL:0000864 biolink:NamedThing tissue-resident macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpte7i6ely_mondo_relaxed.owl resting histiocyte|fixed macrophage FMA:84642|FMA:84644 cell owl:Class HP:0007550 biolink:NamedThing Hypohidrosis or hyperhidrosis tmpte7i6ely_mondo_relaxed.owl Lack of sweating or excessive sweating UMLS:C4021831 human_phenotype owl:Class HP:0025276 biolink:NamedThing Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpte7i6ely_mondo_relaxed.owl 2016-12-18 14:51:16+00:00 HPO:probinson human_phenotype owl:Class MONDO:0011592 biolink:NamedThing exudative vitreoretinopathy 3 tmpte7i6ely_mondo_relaxed.owl EVR3|exudative vitreoretinopathy 3 DOID:0111409|OMIM:605750|UMLS:C1854002|Orphanet:891|MESH:C565297 owl:Class MONDO:0002478 biolink:NamedThing mixed germ cell-sex cord-stromal tumor A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. tmpte7i6ely_mondo_relaxed.owl mixed germ cell-sex cord-stromal tumor (morphologic abnormality)|mixed germ cell-Sex cord tumor|mixed germ cell-Sex cord neoplasm|mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-Sex cord-stromal tumor DOID:2996|NCIT:C5241|UMLS:C1321220 owl:Class GO:0048545 biolink:NamedThing response to steroid hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpte7i6ely_mondo_relaxed.owl response to steroid hormone stimulus owl:Class GO:0033993 biolink:NamedThing response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011937 biolink:NamedThing peeling skin syndrome 4 Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. tmpte7i6ely_mondo_relaxed.owl PSS4|peeling skin syndrome 4|CSTA peeling skin syndrome|ichthyosis, exfoliative, autosomal recessive|peeling skin syndrome caused by mutation in CSTA|peeling skin syndrome type 4|ichthyosis bullosa of Siemens-like MESH:C564309|UMLS:C1842797|OMIM:607936|UMLS:C4225407|Orphanet:289586 owl:Class MONDO:0010417 biolink:NamedThing syndromic X-linked intellectual disability Najm type Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. tmpte7i6ely_mondo_relaxed.owl syndromic X-linked intellectual disability Najm type|Micpch syndrome|mental retardation, X-linked, syndromic, Najm type|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|MICPCH|X-linked intellectual disability, Najm type|intellectual disability, X-linked, syndromic, Najm type|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749|GARD:0012669|ICD10:Q04.3|DOID:0060807|Orphanet:163937|MESH:C567466|UMLS:C2677903 owl:Class MONDO:0020450 biolink:NamedThing azygos continuation of the inferior vena cava tmpte7i6ely_mondo_relaxed.owl azygos continuation of the IVC|azygos continuation of the inferior caval vein Orphanet:99121|ICD10:Q26.8 owl:Class HGNC:6487 biolink:NamedThing LAMB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013176 biolink:NamedThing Weill-Marchesani 4 syndrome, recessive tmpte7i6ely_mondo_relaxed.owl 15q26.3 microdeletion syndrome|WMS4|Weill-Marchesani syndrome 4|Weill-Marchesani-like syndrome|ichthyosis-short stature-brachydactyly-microspherophakia syndrome UMLS:C2750787|OMIM:613195|Orphanet:363992|ICD10:Q93.5|MESH:C567710 owl:Class MONDO:0009557 biolink:NamedThing mandibuloacral dysplasia with type A lipodystrophy A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. tmpte7i6ely_mondo_relaxed.owl MANDIBULOACRAL dysplasia with type A lipodystrophy|MADA|mandibuloacral dysplasia with type A lipodystrophy|lipodystrophy, type A, associated with Mandibuloacral dysplasia|Mandibuloacral dysplasia with type a lipodystrophy, atypical|craniomandibular Dermatodysostosis UMLS:CN206381|Orphanet:90153|SCTID:109419009|Orphanet:2457|UMLS:CN236772|GARD:0003374|ICD10:Q87.5|OMIM:248370|MESH:C535705|NCIT:C123417 https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy owl:Class MONDO:0020813 biolink:NamedThing benign testicular sertoli cell tumor A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. tmpte7i6ely_mondo_relaxed.owl benign sertoli cell neoplasm of the testis|benign sertoli cell neoplasm of testis|benign testicular sertoli cell neoplasm|benign testicular sertoli cell tumor|benign sertoli cell tumor of the testis|benign sertoli cell tumor of testis NCIT:C6522 owl:Class MONDO:0020808 biolink:NamedThing testicular sertoli cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. tmpte7i6ely_mondo_relaxed.owl Sertoli Cell Tumor of the Testis|Testicular Sertoli Cell Neoplasm|Sertoli Cell Neoplasm of Testis|Testicular Sertoli Cell Tumor|Sertoli Cell Tumor of Testis|Testicular Sertoli Cell Tumor, Not Otherwise Specified|Testicular Sertoli Cell Tumor, NOS|Sertoli Cell Neoplasm of the Testis NCIT:C4672 owl:Class MONDO:0010749 biolink:NamedThing trigonocephaly-short stature-developmental delay syndrome Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. tmpte7i6ely_mondo_relaxed.owl Say Meyer syndrome|trigonocephaly, short stature, and retarded psychomotor development|trigonocephaly with short stature and developmental delay|trigonocephaly, short stature and developmental delay|Say-Meyer syndrome Orphanet:3369|OMIM:314320|ICD10:Q87.0|GARD:0000243|MESH:C536620|SCTID:733066002 owl:Class MONDO:0015552 biolink:NamedThing acral dystrophic epidermolysis bullosa Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet. tmpte7i6ely_mondo_relaxed.owl DEB-ac|DEB, acral ICD10:Q81.2|SCTID:733638006|UMLS:C4518087|Orphanet:158673|UMLS:CN199731 owl:Class MONDO:0009256 biolink:NamedThing galactorrhea Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. tmpte7i6ely_mondo_relaxed.owl galactorrhea (disease)|galactorrhea galactorrhea (disease) HP:0100829|MESH:D005687|ICD9:611.6|SCTID:78622004|OMIM:230300|NCIT:C113343 owl:Class GO:0070224 biolink:NamedThing sulfide:quinone oxidoreductase activity Catalysis of the reaction: hydrogen sulfide + a quinone = S0 + a hydroquinone. tmpte7i6ely_mondo_relaxed.owl sulfide-quinone reductase activity|sulphide:quinone oxidoreductase activity owl:Class MONDO:0012628 biolink:NamedThing coronary heart disease, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl CHDS8|coronary heart disease, susceptibility to, 8 OMIM:611139 owl:Class MONDO:0001577 biolink:NamedThing respiratory syncytial virus infectious disease Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. tmpte7i6ely_mondo_relaxed.owl Human respiratory syncytial virus infection|infections, Human respiratory syncytial virus|respiratory syncytial virus infection NCIT:C3354|UMLS:C0035235|EFO:1001413|SCTID:55735004|MESH:D018357|DOID:1273 owl:Class MONDO:0008159 biolink:NamedThing postmenopausal osteoporosis Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. tmpte7i6ely_mondo_relaxed.owl osteoporosis, postmenopausal|bone mineral density quantitative trait locus OMIM:166710|EFO:0003854|MESH:D015663|UMLS:C0029458|SCTID:102447009 owl:Class HGNC:6315 biolink:NamedThing KHK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012362 biolink:NamedThing dilated cardiomyopathy 1P Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. tmpte7i6ely_mondo_relaxed.owl CMD1P|dilated cardiomyopathy type 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|PLN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1P|cardiomyopathy, dilated, 1P UMLS:C1835928|DOID:0110439|Orphanet:154|ICD10:I42.0|MESH:C563690|OMIM:609909 owl:Class UBERON:0035825 biolink:NamedThing left adrenal gland cortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007050 biolink:NamedThing acromegaloid changes, cutis verticis gyrata, and corneal leukoma tmpte7i6ely_mondo_relaxed.owl acromegaly-cutis verticis gyrata-corneal leukoma syndrome|acromegaloid changes, cutis verticis gyrata and corneal leukoma|acromegaloid changes, cutis verticis gyrata, and corneal leukoma|Rosenthal-Kloepfer syndrome OMIM:102100|MESH:C535654|UMLS:CN225973|GARD:0000500|Orphanet:964 https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma owl:Class MONDO:0018587 biolink:NamedThing non-recovering obstetric brachial plexus lesion tmpte7i6ely_mondo_relaxed.owl chronic obstetric brachial plexus palsy|non-recovering OBPI|non-recovering OBPL|chronic obstetric brachial plexus injury Orphanet:439202|UMLS:CN237616|ICD10:P14.3 owl:Class MONDO:0019525 biolink:NamedThing tetrasomy X Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). tmpte7i6ely_mondo_relaxed.owl quadruple X|48 XXXX|tetrasomy type X|tetra X|48,XXXX syndrome|48 XXXX syndrome SCTID:10567003|GARD:0007754|UMLS:C0265496|MESH:C536502|ICD10:Q97.1|ICD9:758.81|Orphanet:9 https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x owl:Class MONDO:0017747 biolink:NamedThing disorder of fucoglycosan synthesis tmpte7i6ely_mondo_relaxed.owl UMLS:CN227193|ICD10:E77.8|Orphanet:309505 owl:Class MONDO:0018095 biolink:NamedThing Weaver-Williams syndrome Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN204431|Orphanet:3448 owl:Class MONDO:0005629 biolink:NamedThing Acanthamoeba keratitis Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. tmpte7i6ely_mondo_relaxed.owl Acanthamoeba caused keratitis|keratitis, Acanthamoeba MedDRA:10069408|GARD:0009285|EFO:0007126|UMLS:C0000880|ICD10:B60.1+|ICD9:370.8|Orphanet:67043|SCTID:231896005|NCIT:C50450|ICD10:H19.2*|MESH:D015823 https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis owl:Class GO:0001067 biolink:NamedThing transcription regulatory region nucleic acid binding Binding to a nucleic acid region that regulates a nucleic acid-based process. Such processes include transcription, DNA replication, and DNA repair. tmpte7i6ely_mondo_relaxed.owl regulatory region nucleic acid binding owl:Class HP:0002135 biolink:NamedThing Basal ganglia calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. tmpte7i6ely_mondo_relaxed.owl Basal ganglia calcifications|Calcification of the basal ganglia|Basal ganglion calcification UMLS:C1389280 HP:0002485 human_phenotype owl:Class HP:0002514 biolink:NamedThing Cerebral calcification The presence of calcium deposition within brain structures. tmpte7i6ely_mondo_relaxed.owl Intracerebral calcifications|Brain calcification|Intracranial calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain UMLS:C0270685|SNOMEDCT_US:17944005 This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. HP:0002502|HP:0006848|HP:0005806 human_phenotype owl:Class MONDO:0007819 biolink:NamedThing solitary median maxillary central incisor syndrome A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. tmpte7i6ely_mondo_relaxed.owl incisors, Fused|SMMCI syndrome|SMMCI|Fused incisors|single upper central incisor|incisors fused|single central maxillary incisor|solitary median maxillary central incisor syndrome|solitary MEDIAN maxillary central incisor OMIM:147250|ICD10:K00.2|GARD:0004877|MESH:C537342|Orphanet:2162|SCTID:707609006|Orphanet:2286|Orphanet:280200 owl:Class MONDO:0004788 biolink:NamedThing cervix squamous papilloma A papilloma that arises from the squamous epithelium of the cervix. tmpte7i6ely_mondo_relaxed.owl squamous papilloma of the cervix uteri|cervix squamous papilloma|squamous papilloma of uterine cervix|uterine cervix squamous papilloma|cervix uteri squamous papilloma|squamous papilloma of cervix uteri|squamous papilloma of the uterine cervix|squamous papilloma of cervix|squamous papilloma of the cervix|cervical squamous papilloma DOID:9445|UMLS:C1336900|NCIT:C6342 owl:Class MONDO:0019444 biolink:NamedThing Trichinellosis A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. tmpte7i6ely_mondo_relaxed.owl infection with Trichinella|trichinosis|trichiniasis|Human trichinellosis ICD10:B75|MedDRA:10044608|MESH:D014235|Orphanet:863|SCTID:709018004|GARD:0005250 owl:Class MONDO:0016128 biolink:NamedThing parasitic myositis tmpte7i6ely_mondo_relaxed.owl ICD10:M60.0|ICD9:728.2|SCTID:60970005|UMLS:C0263997|Orphanet:206997 owl:Class CHEBI:140310 biolink:NamedThing phenyl acetates An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol. tmpte7i6ely_mondo_relaxed.owl a phenyl acetate|phenyl acetate derivatives|phenyl acetate derivative owl:Class CHEBI:47622 biolink:NamedThing acetate ester Any carboxylic ester where the carboxylic acid component is acetic acid. tmpte7i6ely_mondo_relaxed.owl Acetyl ester|acetyl esters|acetate|acetates|Acetic ester|an acetyl ester|acetate esters owl:Class GO:0046467 biolink:NamedThing membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. tmpte7i6ely_mondo_relaxed.owl membrane lipid biosynthesis|membrane lipid synthesis|membrane lipid formation|membrane lipid anabolism owl:Class MONDO:0016455 biolink:NamedThing virus-associated trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. tmpte7i6ely_mondo_relaxed.owl trichodysplasia spinulosa|pilomatrix dysplasia|VATS|TS|Cyclosporine-induced folliculodystrophy UMLS:C3267126|Orphanet:228379 owl:Class UBERON:0009749 biolink:NamedThing limb mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008595 biolink:NamedThing trichoepitheliomas, multiple desmoplastic tmpte7i6ely_mondo_relaxed.owl trichoepitheliomas, multiple desmoplastic OMIM:190345|MESH:C566034|UMLS:C1860849 owl:Class MONDO:0001188 biolink:NamedThing esophagus lymphoma An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpte7i6ely_mondo_relaxed.owl esophagus lymphoma|primary esophageal lymphoma|esophageal lymphoma|lymphoma of esophagus|lymphoma of the esophagus UMLS:C1333459|DOID:1106|NCIT:C5687 owl:Class HGNC:14604 biolink:NamedThing AMN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013926 biolink:NamedThing hypogonadotropic hypogonadism 14 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene. tmpte7i6ely_mondo_relaxed.owl HH14|hypogonadotropic hypogonadism 14 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in WDR11|WDR11 hypogonadotropic hypogonadism ICD10:E23.0|DOID:0090087|UMLS:C3540450|OMIM:614858 owl:Class GO:0031099 biolink:NamedThing regeneration The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass). tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23 biolink:NamedThing ABAT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007367 biolink:NamedThing surface of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070075 biolink:NamedThing tear secretion The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000729 biolink:NamedThing Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpte7i6ely_mondo_relaxed.owl Autistic behaviours|Autism spectrum disorders|Autistic behaviors|Autistic behaviour|Pervasive developmental disorder|ASD|Autism spectrum disorder MSH:D000067877|UMLS:C1510586|UMLS:C0856975 This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. human_phenotype owl:Class GO:2000215 biolink:NamedThing negative regulation of proline metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of proline metabolism owl:Class GO:0006601 biolink:NamedThing creatine biosynthetic process The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle. tmpte7i6ely_mondo_relaxed.owl creatine biosynthesis|creatine anabolism|creatine synthesis|creatine formation owl:Class UBERON:0001713 biolink:NamedThing lower eyelid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024310 biolink:NamedThing angiodysplasia of stomach A angiodysplasia that involves the stomach. tmpte7i6ely_mondo_relaxed.owl stomach angiodysplasia|gastric vascular dysplasia|gastric angiodysplasia SCTID:424802006|UMLS:C0744273 owl:Class MONDO:0000565 biolink:NamedThing infective endocarditis Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue. tmpte7i6ely_mondo_relaxed.owl endocarditis, infective|endocarditis infective GARD:0006337|NCIT:C78265|Orphanet:570762|DOID:0060000|ICD9:136.9|SCTID:233850007 https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis owl:Class MONDO:0019637 biolink:NamedThing renal hypoplasia Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. tmpte7i6ely_mondo_relaxed.owl renal hypoplasia (disease)|renal hypoplasia renal hypoplasia (disease) ICD10:Q60.3|ICD10:Q60.4|DOID:0080204|Orphanet:93101|SCTID:32659003|ICD10:Q60.5|HP:0000089|MedDRA:10049102 owl:Class MONDO:0001260 biolink:NamedThing cercarial dermatitis An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. tmpte7i6ely_mondo_relaxed.owl lake Itch|Sea bather's eruption|swimmer's itch|duck Itch|cutaneous schistosomiasis DOID:11302|SCTID:238534006|ICD9:709.8|NCIT:C128349|GARD:0009747|UMLS:C4282208|ICD9:120.3|ICD10:B65.3|UMLS:C0546996 https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis owl:Class MONDO:0006446 biolink:NamedThing testicular embryonal carcinoma A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. tmpte7i6ely_mondo_relaxed.owl testis embryonal carcinoma|embryonal carcinoma of the testis|testicular embryonal carcinoma|embryonal testis carcinoma|embryonal carcinoma of testis DOID:5680|EFO:1000565|NCIT:C6341|UMLS:C0238448 owl:Class MONDO:0007371 biolink:NamedThing cornea guttata with anterior polar cataracts tmpte7i6ely_mondo_relaxed.owl cornea guttata with anterior polar cataracts|familial congenital cornea guttata with anterior polar cataracts (type)|cornea guttata with anterior polar cataract MESH:C535471|UMLS:C1852558|OMIM:121390|GARD:0009507 owl:Class MONDO:0011961 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|HSAN1B|hereditary sensory and autonomic neuropathy type IB|neuropathy, hereditary sensory, type 1B|neuropathy, hereditary sensory and autonomic, type 1B|HSAN with cough and gastroesophageal reflux|hereditary sensory neuropathy type 1B|hereditary sensory neuropathy type IB|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux ICD10:G60.8|DOID:0070148|PMID:16311270|OMIM:608088|SCTID:717825008|Orphanet:139564|MESH:C564296|UMLS:C4303567|PMID:12870133|UMLS:C1842586 owl:Class HP:0002143 biolink:NamedThing Abnormality of the spinal cord An abnormality of the spinal cord (myelon). tmpte7i6ely_mondo_relaxed.owl Spinal cord pathology|Spinal cord disease|Abnormality of the spinal cord MSH:D013118|SNOMEDCT_US:48522003|UMLS:C4025722|UMLS:C0037928 human_phenotype owl:Class HP:0002011 biolink:NamedThing Morphological central nervous system abnormality A structural abnormality of the central nervous system. tmpte7i6ely_mondo_relaxed.owl Morphological abnormality of the central nervous system|Abnormality of the central nervous system|Morphological abnormality of the CNS|Central nervous system disease MSH:D002493|UMLS:C0007682|SNOMEDCT_US:23853001|UMLS:C4021765 HP:0002413|HP:0002481|HP:0002405|HP:0007319 human_phenotype owl:Class HGNC:17416 biolink:NamedThing ADGRV1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023050 biolink:NamedThing ectrodactyly cardiopathy dysmorphism tmpte7i6ely_mondo_relaxed.owl Van Den Ende Brunner syndrome|ectrodactyly of lower limbs, congenital heart defect and characteristic facies MESH:C536187|GARD:0002063|UMLS:C2931127 https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism owl:Class MONDO:0001654 biolink:NamedThing spermatic cord cancer A malignant neoplasm involving the spermatic cord. tmpte7i6ely_mondo_relaxed.owl malignant spermatic cord neoplasm|malignant tumor of the spermatic cord|malignant tumor of spermatic cord|spermatic cord cancer|malignant neoplasm of spermatic cord|cancer of spermatic cord|malignant spermatic cord tumor|malignant neoplasm of the spermatic cord|spermatic cord Ca ICD10:C63.1|NCIT:C3559|DOID:13169|SCTID:363453008|UMLS:C0153603|ICD9:187.6 owl:Class MONDO:0006925 biolink:NamedThing Fusobacteriaceae infectious disease Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria. tmpte7i6ely_mondo_relaxed.owl Fusobacteriaceae disease or disorder|infection, Fusobacteriaceae|Fusobacteriaceae infection|infections, Fusobacteriaceae|Fusobacteriaceae caused disease or disorder UMLS:C1258222|MESH:D045825|EFO:1001126 owl:Class HGNC:11582 biolink:NamedThing TBCE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001689 biolink:NamedThing hypertrophy of tongue papillae tmpte7i6ely_mondo_relaxed.owl tongue papillary hypertrophy DOID:13333|ICD9:529.3|ICD10:K14.3|UMLS:C0392494|SCTID:6971002 owl:Class MONDO:0004096 biolink:NamedThing spinal cord dermoid cyst A dermoid cyst that involves the spinal cord. tmpte7i6ely_mondo_relaxed.owl dermoid cyst of spinal cord|spinal cord dermoid cyst|spinal cord dermoid|dermoid cyst of the spinal cord NCIT:C6808|DOID:7071|UMLS:C1333278 owl:Class GO:0034760 biolink:NamedThing negative regulation of iron ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl downregulation of transmembrane iron ion transport|negative regulation of transmembrane iron transport|down-regulation of transmembrane iron ion transport|inhibition of transmembrane iron ion transport|negative regulation of transmembrane iron ion transport|down regulation of transmembrane iron ion transport|negative regulation of iron ion membrane transport owl:Class MONDO:0019688 biolink:NamedThing sulfation-related bone disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227674|Orphanet:93423 owl:Class GO:0051250 biolink:NamedThing negative regulation of lymphocyte activation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. tmpte7i6ely_mondo_relaxed.owl inhibition of lymphocyte activation|down regulation of lymphocyte activation|downregulation of lymphocyte activation|down-regulation of lymphocyte activation owl:Class GO:1990613 biolink:NamedThing mitochondrial membrane fusion The joining of two lipid bilayers that surround the mitochondria. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061025 biolink:NamedThing membrane fusion The membrane organization process that joins two lipid bilayers to form a single membrane. tmpte7i6ely_mondo_relaxed.owl cellular membrane fusion|single-organism membrane fusion owl:Class MONDO:0013320 biolink:NamedThing chromosome 16p12.2-p11.2 deletion syndrome 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl 16p11.2p12.2 microdeletion syndrome|chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB|monosomy 16p11.2p12.2|monosomy 16p11.2-p12.2|16p11.2-p12.2 microdeletion syndrome|Del(16)(p11.2p12.2) SCTID:719576009|DOID:0060400|ICD10:Q93.5|UMLS:C3150858|UMLS:C4304597|Orphanet:261211|OMIM:613604 owl:Class UBERON:0001171 biolink:NamedThing portal lobule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001833 biolink:NamedThing lacrimal duct obstruction Blockage of the tear duct. tmpte7i6ely_mondo_relaxed.owl blocked lacrimal canaliculus|obstruction of lacrimal canaliculus|obstruction of lacrimal ducts DOID:13929|MESH:D007767|SCTID:416920000|NCIT:C34757 owl:Class MONDO:0014627 biolink:NamedThing dystonia 27 Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene. tmpte7i6ely_mondo_relaxed.owl DYT27|dystonia type 27|dystonia 27|primary dystonia, DYT27 type|COL6A3 dystonic disorder|dystonic disorder caused by mutation in COL6A3 Orphanet:464440|UMLS:C4225336|DOID:0090050|ICD10:G24.1|OMIM:616411 owl:Class MONDO:0000479 biolink:NamedThing segmental dystonia A dystonia that affects two or more adjacent parts of the body. tmpte7i6ely_mondo_relaxed.owl SCTID:427945008|UMLS:C1997740|ICD9:333.89|DOID:0050838 owl:Class MONDO:0002832 biolink:NamedThing endometrial transitional cell carcinoma A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells. tmpte7i6ely_mondo_relaxed.owl endometrial transitional cell carcinoma DOID:4005|NCIT:C40154|UMLS:C1516864 owl:Class HGNC:18626 biolink:NamedThing IFT27 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001224 biolink:NamedThing Angelucci syndrome Atopic conjunctivitis that is of relatively short duration and that has a rapid onset. tmpte7i6ely_mondo_relaxed.owl Angelucci syndrome|Angelucci's syndrome|acute atopic conjunctivitis ICD9:372.05|DOID:11203|ICD10:H10.1|NCIT:C34353|SCTID:67678004|UMLS:C0001309 owl:Class MONDO:0018992 biolink:NamedThing IgG4-related thyroid disease Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. tmpte7i6ely_mondo_relaxed.owl Riedel's fibrosing thyroiditis|Riedel fibrosing thyroiditis|Riedel disease|Riedel thyroiditis ICD10:E06.5|MedDRA:10039142|NCIT:C35827|UMLS:C1335787|Orphanet:64744|DOID:14351|SCTID:89024000 owl:Class MONDO:0000664 biolink:NamedThing apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. tmpte7i6ely_mondo_relaxed.owl DOID:0060134 owl:Class MONDO:0019981 biolink:NamedThing unilateral multicystic dysplastic kidney Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. tmpte7i6ely_mondo_relaxed.owl unilateral multicystic renal dysplasia|unilateral MCDK Orphanet:97363|ICD10:Q61.4|MESH:D021782 owl:Class MONDO:0000128 biolink:NamedThing giant axonal neuropathy A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. tmpte7i6ely_mondo_relaxed.owl UMLS:C5200933|OMIMPS:256850|UMLS:C1850386|ICD9:349.89|NCIT:C84728|MESH:D056768|SCTID:128207002 See genetic heterogeneity of OMIM 256850. https://github.com/monarch-initiative/mondo/issues/2532 owl:Class MONDO:0004183 biolink:NamedThing axonal neuropathy Any nerve disorder affecting the axon of a nerve. tmpte7i6ely_mondo_relaxed.owl axonal neuropathy|axon peripheral neuropathy|peripheral neuropathy of axon NCIT:C27301|UMLS:C0270921|DOID:7319|SCTID:60703000 owl:Class MONDO:0018809 biolink:NamedThing idiopathic peliosis hepatis tmpte7i6ely_mondo_relaxed.owl idiopathic peliosis hepatitis Orphanet:480524 owl:Class UBERON:0035048 biolink:NamedThing parotid gland excretory duct tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000014 biolink:NamedThing Abnormality of the bladder An abnormality of the urinary bladder. tmpte7i6ely_mondo_relaxed.owl UMLS:C0149632 human_phenotype owl:Class HGNC:6460 biolink:NamedThing KRT83 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019196 biolink:NamedThing Foix-Alajouanine syndrome Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. tmpte7i6ely_mondo_relaxed.owl Subacute necrotizing myelitis|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute angiohypertrophic myelomalacia|Subacute ascending necrotizing myelitis|angiodysgenetic necrotizing myelopathy ICD9:323.9|Orphanet:79093|SCTID:230379007|ICD10:G37.4|UMLS:CN205776 owl:Class GO:0016866 biolink:NamedThing intramolecular transferase activity Catalysis of the transfer of a functional group from one position to another within a single molecule. tmpte7i6ely_mondo_relaxed.owl intramolecular transferase activity, transferring other groups|mutase activity owl:Class MONDO:0010877 biolink:NamedThing Charcot-Marie-Tooth disease type 5 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN5|Charcot-Marie-Tooth disease-pyramidal features syndrome|peroneal muscular atrophy with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy V|CMT with pyramidal features|hereditary motor and sensory neuropathy type 5|hereditary motor and sensory neuropathy with pyramidal features|HMSN 5 GARD:0009208|OMIM:600361|DOID:0080067|ICD10:G60.0|SCTID:76043009|UMLS:CN074211|Orphanet:64751 owl:Class MONDO:0016330 biolink:NamedThing non-familial hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired hypertrophic cardiomyopathy Orphanet:217598|UMLS:CN226903 owl:Class MONDO:0013980 biolink:NamedThing palmoplantar keratoderma, punctate type ib tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma, punctate type IB|PPKP1B OMIM:614936|UMLS:C3554145|Orphanet:79501 owl:Class GO:0015837 biolink:NamedThing amine transport The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl amine/polyamine transport owl:Class CL:0002427 biolink:NamedThing resting double-positive thymocyte A double-positive, alpha-beta thymocyte that is small and not proliferating. tmpte7i6ely_mondo_relaxed.owl T.DP.sm.Th tmeehan 2010-10-21T01:59:06Z cell owl:Class MONDO:0002860 biolink:NamedThing testis rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma of the testis|testicular rhabdomyosarcoma|rhabdomyosarcoma (disease) of testis|testis rhabdomyosarcoma (disease)|rhabdomyosarcoma of testis UMLS:C1336726|DOID:4061|NCIT:C6378 owl:Class PO:0025497 biolink:NamedThing collective plant structure A plant structure (PO:0009011) that is a proper part of a whole plant (PO:0000003) and includes two or more adjacent plant organs (PO:0009008) or adjacent cardinal organ parts (PO:0025001), along with any associated portions of plant tissue (PO:0009007). tmpte7i6ely_mondo_relaxed.owl estructura vegetal colectiva (Spanish, exact)|集合的植物構造 (Japanese, exact) PO_GIT:479 This is a parent term to describe both collective organ part structure (PO:0025269) (e.g. septum), as well as collective plant organ structure (PO:0025007) (which was formerly named collective plant structure), for example shoot system (PO:0009006). Laurel_Cooper 2012-06-11T15:09:20Z plant_anatomy owl:Class MONDO:0018605 biolink:NamedThing disorders of pentose/polyol metabolism tmpte7i6ely_mondo_relaxed.owl Orphanet:440701|UMLS:CN237637 owl:Class NCBITaxon:173087 biolink:NamedThing Human papillomavirus types tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014512 biolink:NamedThing PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy. tmpte7i6ely_mondo_relaxed.owl PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation|mental retardation, autosomal dominant type 31|intellectual disability, autosomal dominant 31|autosomal dominant non-syndromic intellectual disability 31|autosomal dominant mental retardation 31|mental retardation, autosomal dominant 31|intellectual disability, autosomal dominant type 31|MRD31|autosomal dominant intellectual disability 31 UMLS:CN237609|DOID:0070061|OMIM:616158|UMLS:C4015357|Orphanet:438216|ICD10:G40.4 owl:Class MONDO:0100474 biolink:NamedThing mild ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2360 owl:Class UBERON:0007355 biolink:NamedThing bony part of pharyngotympanic tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008610 biolink:NamedThing blue color blindness Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision. tmpte7i6ely_mondo_relaxed.owl blue colour blindness|tritanopia|colorblindness, tritanopic|congenital tritanopia|tritan colour blindness|tritan defect|colorblindness, tritan|blue colorblindness SCTID:51886007|UMLS:C0155017|ICD10:H53.5|Orphanet:88629|OMIM:190900|ICD10:H53.55|DOID:11661|ICD9:368.53 owl:Class MONDO:0006948 biolink:NamedThing retinal artery occlusion An occlusion of the retinal artery. tmpte7i6ely_mondo_relaxed.owl MedDRA:10038827|UMLS:C0035302|SCTID:232035005|MESH:D015356|NCIT:C34978|EFO:1001154|DOID:8483 owl:Class CL:0000015 biolink:NamedThing male germ cell Male germ cell is a germ cell that supports male gamete production. tmpte7i6ely_mondo_relaxed.owl VHOG:0001531|ncithesaurus:Spermatogenic_Cell|FMA:72290|MA:0002765 cell owl:Class HGNC:6080 biolink:NamedThing INPPL1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051961 biolink:NamedThing negative regulation of nervous system development Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpte7i6ely_mondo_relaxed.owl inhibition of nervous system development|down-regulation of nervous system development|down regulation of nervous system development|downregulation of nervous system development owl:Class HGNC:23719 biolink:NamedThing PGAP3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11411 biolink:NamedThing CDKL5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035523 biolink:NamedThing anterior surface of prostate tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15993 biolink:NamedThing CHST8 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50683 biolink:NamedThing EC 1.5.1.3 (dihydrofolate reductase) inhibitor An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3). tmpte7i6ely_mondo_relaxed.owl folic acid reductase inhibitor|dihydrofolate reductase inhibitors|dihydrofolic acid reductase inhibitors|NADPH-dihydrofolate reductase inhibitors|DHFR inhibitor|dihydrofolate reductase (EC 1.5.1.3) inhibitors|tetrahydrofolate dehydrogenase inhibitor|EC 1.5.1.3 inhibitor|dihydrofolic acid reductase inhibitor|7,8-dihydrofolate reductase inhibitors|dihydrofolic reductase inhibitors|tetrahydrofolate dehydrogenase inhibitors|dihydrofolate reductase inhibitor|EC 1.5.1.3 inhibitors|NADPH-dihydrofolate reductase inhibitor|folic acid reductase inhibitors|EC 1.5.1.3 (dihydrofolate reductase) inhibitors|DHFR inhibitors|dihydrofolic reductase inhibitor|folic reductase inhibitor|dihydrofolate reductase (EC 1.5.1.3) inhibitor|folic reductase inhibitors|7,8-dihydrofolate reductase inhibitor owl:Class CHEBI:76863 biolink:NamedThing EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.5.1.*). tmpte7i6ely_mondo_relaxed.owl EC 1.5.1.* inhibitor|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitor|EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.5.1.* inhibitors|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitors owl:Class NCBITaxon:28901 biolink:NamedThing Salmonella enterica tmpte7i6ely_mondo_relaxed.owl Salmonella enterica ser. choleraesuis|Bacillus cholerae-suis|Salmonella cholerae-suis|Salmonella choleraesuis PMID:15653930|GC_ID:11|PMID:10939679|PMID:10319519|PMID:15653929 NCBITaxon:2364731|NCBITaxon:2483349|NCBITaxon:2516349|NCBITaxon:2364738|NCBITaxon:2364753|NCBITaxon:2364768|NCBITaxon:2364739|NCBITaxon:2305023|NCBITaxon:2516344|NCBITaxon:2486724|NCBITaxon:2364662|NCBITaxon:2516332|NCBITaxon:2485244|NCBITaxon:2303554|NCBITaxon:2516335|NCBITaxon:2419822|NCBITaxon:2364734|NCBITaxon:2485987|NCBITaxon:2419821|NCBITaxon:2483348|NCBITaxon:2364735|NCBITaxon:2364698|NCBITaxon:2364682|NCBITaxon:2364740|NCBITaxon:2364751|NCBITaxon:2364693|NCBITaxon:2478518|NCBITaxon:2303557|NCBITaxon:2516336|NCBITaxon:2364746|NCBITaxon:2364760|NCBITaxon:2305033|NCBITaxon:2478513|NCBITaxon:2305032|NCBITaxon:2364675|NCBITaxon:2305461|NCBITaxon:2485240|NCBITaxon:2485248|NCBITaxon:2306999|NCBITaxon:2419815|NCBITaxon:2419813|NCBITaxon:2485996|NCBITaxon:2364674|NCBITaxon:2364694|NCBITaxon:2305022|NCBITaxon:2485249|NCBITaxon:2305028|NCBITaxon:2315835|NCBITaxon:2306989|NCBITaxon:2485246|NCBITaxon:2485989|NCBITaxon:2485992|NCBITaxon:2364732|NCBITaxon:2516346|NCBITaxon:2419817|NCBITaxon:2485991|NCBITaxon:2364691|NCBITaxon:2364699|NCBITaxon:2478528|NCBITaxon:2516345|NCBITaxon:2516350|NCBITaxon:2419818|NCBITaxon:2364724|NCBITaxon:2364685|NCBITaxon:2364709|NCBITaxon:2303567|NCBITaxon:2364712|NCBITaxon:2478512|NCBITaxon:2364720|NCBITaxon:2306988|NCBITaxon:2305026|NCBITaxon:2486728|NCBITaxon:2485256|NCBITaxon:2419816|NCBITaxon:2306016|NCBITaxon:2305025|NCBITaxon:2364728|NCBITaxon:2339223|NCBITaxon:2485242|NCBITaxon:2419812|NCBITaxon:2364715|NCBITaxon:2339225|NCBITaxon:2478521|NCBITaxon:2305030|NCBITaxon:2483350|NCBITaxon:2364677|NCBITaxon:2516333|NCBITaxon:2516347|NCBITaxon:2364754|NCBITaxon:2364727|NCBITaxon:2485986|NCBITaxon:2447895|NCBITaxon:2478511|NCBITaxon:2478527|NCBITaxon:2478519|NCBITaxon:2303556|NCBITaxon:2364681|NCBITaxon:2303562|NCBITaxon:2485993|NCBITaxon:2339222|NCBITaxon:2485251|NCBITaxon:2516334|NCBITaxon:2516341|NCBITaxon:2516348|NCBITaxon:2305451|NCBITaxon:2364717|NCBITaxon:2478520|NCBITaxon:2303574|NCBITaxon:2364680|NCBITaxon:2340790|NCBITaxon:2303570|NCBITaxon:2364701|NCBITaxon:2305020|NCBITaxon:2364750|NCBITaxon:2320430|NCBITaxon:2364711|NCBITaxon:2478515|NCBITaxon:2485990|NCBITaxon:2516342|NCBITaxon:2364676|NCBITaxon:2303565|NCBITaxon:2340792|NCBITaxon:2419814|NCBITaxon:2339226|NCBITaxon:2419824|NCBITaxon:2516338|NCBITaxon:2303573|NCBITaxon:2419820|NCBITaxon:591|NCBITaxon:2516340|NCBITaxon:2485241|NCBITaxon:2303572|NCBITaxon:2303559|NCBITaxon:2303575|NCBITaxon:2478517|NCBITaxon:2485994|NCBITaxon:2305460|NCBITaxon:2364761|NCBITaxon:2364767|NCBITaxon:2364718|NCBITaxon:2305029|NCBITaxon:2305024|NCBITaxon:2303558|NCBITaxon:2486730|NCBITaxon:2339224|NCBITaxon:2486725|NCBITaxon:2364708|NCBITaxon:2478514|NCBITaxon:2305031|NCBITaxon:2478510|NCBITaxon:2303568|NCBITaxon:2303564|NCBITaxon:2479845|NCBITaxon:2307000|NCBITaxon:2516339|NCBITaxon:2364714|NCBITaxon:2486723|NCBITaxon:2364706|NCBITaxon:2486731|NCBITaxon:2364725|NCBITaxon:2485247|NCBITaxon:2364671|NCBITaxon:2364722|NCBITaxon:2306017|NCBITaxon:2364729|NCBITaxon:2307001|NCBITaxon:2303569|NCBITaxon:2485253|NCBITaxon:2478516|NCBITaxon:2485995|NCBITaxon:2364700|NCBITaxon:2419811|NCBITaxon:2364692|NCBITaxon:2516337|NCBITaxon:2364733|NCBITaxon:2305021|NCBITaxon:2364690|NCBITaxon:2364707|NCBITaxon:2364710|NCBITaxon:2303555|NCBITaxon:2516343|NCBITaxon:2303560|NCBITaxon:2305034|NCBITaxon:2364730|NCBITaxon:2485243|NCBITaxon:2419819|NCBITaxon:2486727|NCBITaxon:2486973|NCBITaxon:2320429|NCBITaxon:2485988|NCBITaxon:2364696|NCBITaxon:2303566|NCBITaxon:2478522|NCBITaxon:2486729|NCBITaxon:2303561|NCBITaxon:2364686|NCBITaxon:2485252|NCBITaxon:2364716|NCBITaxon:2306987|NCBITaxon:2364765|NCBITaxon:2364672|NCBITaxon:2478523|NCBITaxon:2478525|NCBITaxon:2478526|NCBITaxon:2419823|NCBITaxon:2303563|NCBITaxon:2364726|NCBITaxon:2305027|NCBITaxon:2486726 ncbi_taxonomy owl:Class NCBITaxon:590 biolink:NamedThing Salmonella tmpte7i6ely_mondo_relaxed.owl PMID:9731304|PMID:12072558|PMID:10319519|PMID:15653929|PMID:15653930|GC_ID:11|PMID:10939679|PMID:3231714 ncbi_taxonomy owl:Class MONDO:0015056 biolink:NamedThing acquired angioedema type 1 Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpte7i6ely_mondo_relaxed.owl acquired angioneurotic edema type 1 ICD10:T78.3|UMLS:CN197348|Orphanet:100056 owl:Class UBERON:0005813 biolink:NamedThing tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008663 biolink:NamedThing snowflake vitreoretinal degeneration Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. tmpte7i6ely_mondo_relaxed.owl SVD|snowflake degeneration in hereditary vitreoretinal degeneration|snowflake vitreoretinal degeneration|vitreoretinal degeneration, snowflake type UMLS:C1860405|MESH:C536677|DOID:0111570|ICD10:H35.5|GARD:0009706|OMIM:193230|Orphanet:91496 https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration owl:Class MONDO:0022018 biolink:NamedThing Borrone di Rocco Crovato syndrome tmpte7i6ely_mondo_relaxed.owl Borrone dermatocardioskeletal syndrome GARD:0000939|MESH:C536577|UMLS:C1859406 https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome owl:Class UBERON:0005764 biolink:NamedThing acellular membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007643 biolink:NamedThing gamma-A-globulin, defect in assembly of tmpte7i6ely_mondo_relaxed.owl Immunoglobulin A, defect in Assembly of|IgA, defect in Assembly of|gamma-A-globulin, defect in ASSEMBLY OF OMIM:137050|UMLS:C1850934|MESH:C564991 owl:Class MONDO:0010229 biolink:NamedThing alopecia, congenital A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common. tmpte7i6ely_mondo_relaxed.owl ALPC|alopecia, congenital|congenital alopecia OMIM:300042|NCIT:C35790|MESH:C535981|SCTID:2965006|Orphanet:700 owl:Class MONDO:0015724 biolink:NamedThing non-distal trisomy 13q Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. tmpte7i6ely_mondo_relaxed.owl non-distal duplication 13q|non-distal trisomy type 13q|non-telomeric trisomy 13q ICD10:Q92.3|SCTID:764996009|Orphanet:1702 owl:Class GO:0097060 biolink:NamedThing synaptic membrane A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043300 biolink:NamedThing actinic cheilitis tmpte7i6ely_mondo_relaxed.owl actinic cheilitis|solar keratosis of lip|actinic cheilosis UMLS:C0267026|GARD:0009619|SCTID:46795000|MESH:C535669 owl:Class GO:1903795 biolink:NamedThing regulation of inorganic anion transmembrane transport Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl regulation of inorganic anion membrane transport|regulation of transmembrane inorganic anion transport owl:Class NCBITaxon:11655 biolink:NamedThing Feline lentivirus group tmpte7i6ely_mondo_relaxed.owl Feline lentiviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:348386 biolink:NamedThing unclassified Lentivirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0034770 biolink:NamedThing bulbourethral gland epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017466 biolink:NamedThing congenital pseudoarthrosis of the ulna tmpte7i6ely_mondo_relaxed.owl congenital pseudarthrosis of the ulna Orphanet:295026|ICD10:Q74.0 owl:Class MONDO:0015525 biolink:NamedThing congenital pseudoarthrosis of the limbs tmpte7i6ely_mondo_relaxed.owl congenital pseudoarthrosis|congenital pseudarthrosis of the limbs OMIM:609143|GARD:0009722|Orphanet:157808|MESH:C535762 https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis owl:Class MONDO:0002756 biolink:NamedThing solitary plasmacytoma of chest wall A solitary plasmacytoma that arises from the chest wall. tmpte7i6ely_mondo_relaxed.owl plasmacytoma of chest wall|solitary plasmacytoma of chest wall|chest wall solitary plasmacytoma|chest wall plasmacytoma|solitary plasmacytoma of the chest wall UMLS:C1332936|DOID:3723|NCIT:C6711 owl:Class MONDO:0005615 biolink:NamedThing plasmacytoma Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. tmpte7i6ely_mondo_relaxed.owl solitary plasmacytoma|solitary myeloma|anaplastic solitary extramedullary plasmacytoma of the cecum (type)|extramedullary anaplastic plasmacytoma (type)|myeloma, solitary|anaplastic plasmacytoma|plasmacytoma|anaplastic skeletal plasmacytoma (type)|myeloma - solitary EFO:0006738|DOID:3721|MedDRA:10035484|ICDO:9731/3|ICD9:238.6|SCTID:415112005|GARD:0007404|NCIT:C9349|ICD10:C90.30|ICD10:C90.3|Orphanet:86855|MESH:D010954|UMLS:C0032131|ICD10:C90.2 alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. owl:Class MONDO:0030905 biolink:NamedThing hearing loss, autosomal recessive 117 tmpte7i6ely_mondo_relaxed.owl DFNB117|deafness, autosomal recessive 117 OMIM:619174 owl:Class GO:0070563 biolink:NamedThing negative regulation of vitamin D receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity. tmpte7i6ely_mondo_relaxed.owl negative regulation vitamin D receptor signalling pathway|down regulation of vitamin D receptor signaling pathway|downregulation of vitamin D receptor signaling pathway|inhibition of vitamin D receptor signaling pathway|down-regulation of vitamin D receptor signaling pathway|negative regulation of VDR signaling pathway|negative regulation of VDR signalling pathway owl:Class GO:0070562 biolink:NamedThing regulation of vitamin D receptor signaling pathway Any process that modulates the frequency, rate or extent of vitamin D receptor signaling pathway activity. tmpte7i6ely_mondo_relaxed.owl regulation of vitamin D receptor signalling pathway|regulation of VDR signaling pathway owl:Class MONDO:0060629 biolink:NamedThing neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive tmpte7i6ely_mondo_relaxed.owl NDHMSR|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive UMLS:CN737161|OMIM:617820 owl:Class MONDO:0025303 biolink:NamedThing anaplasmosis An disease or disorder caused by infection with Anaplasma. tmpte7i6ely_mondo_relaxed.owl Anaplasma caused disease or disorder|Anaplasma disease or disorder|Anaplasma infectious disease SCTID:13906002 owl:Class GO:2001226 biolink:NamedThing negative regulation of chloride transport Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport. tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C15492 biolink:NamedThing Estrogen Receptor Positive tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21637 biolink:NamedThing SATB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044202 biolink:NamedThing episodic kinesigenic dyskinesia Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. tmpte7i6ely_mondo_relaxed.owl paroxysmal kinesigenic choreathetosis|familial PKD|EKD|familial paroxysmal kinesigenic dyskinesia Orphanet:98809|OMIMPS:128200 owl:Class MONDO:0007118 biolink:NamedThing isolated anhidrosis with normal sweat glands Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene. tmpte7i6ely_mondo_relaxed.owl anhidrosis, isolated, with normal sweat glands|ITPR2 anhidrosis|anhidrosis caused by mutation in ITPR2|ANHD|isolated generalized anhidrosis with normal sweat glands|Dann-Epstein-Sohar syndrome Orphanet:468666|UMLS:C1862871|DOID:0060603|OMIM:106190 owl:Class GO:0009110 biolink:NamedThing vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl vitamin biosynthesis|vitamin anabolism|vitamin formation|vitamin synthesis owl:Class MONDO:0007198 biolink:NamedThing Ascher syndrome Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. tmpte7i6ely_mondo_relaxed.owl blepharochalasis and DOUBLE LIP|blepharochalasis and double lip|Ascher syndrome|blepharochalasis - double lip|blepharochalasis and Double lip|blepharochalasis and Double type lip|Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis-double lip syndrome|Ascher's syndrome ICD10:Q87.0|Orphanet:1253|ICD9:246.8|MESH:C562742|ICD9:374.89|UMLS:C0339085|OMIM:109900|GARD:0000201|SCTID:28599006 https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome owl:Class MONDO:0019944 biolink:NamedThing Eisenmenger syndrome Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. tmpte7i6ely_mondo_relaxed.owl Eisenmenger's syndrome ICD10:I27.2|MedDRA:10058554|GARD:0006323|UMLS:C0013743|SCTID:445928005|Orphanet:97214|MESH:D004541|NCIT:C84390 https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome owl:Class MONDO:0011150 biolink:NamedThing acroosteolysis-keloid-like lesions-premature aging syndrome tmpte7i6ely_mondo_relaxed.owl premature aging syndrome Penttinen type|premature aging syndrome, Penttinen type|PENTT|progeroid syndrome, Penttinen type|prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|Penttinen-aula syndrome OMIM:601812|ICD10:E34.8|GARD:0004498|Orphanet:363665|UMLS:C1866182|MESH:C536653|GARD:0004276 owl:Class MONDO:0013863 biolink:NamedThing combined immunodeficiency due to LRBA deficiency tmpte7i6ely_mondo_relaxed.owl immunodeficiency, common variable, 8, with autoimmunity|combined immunodeficiency due to LRBA deficiency|Cid due to LRBA deficiency|CVID8 Orphanet:445018|UMLS:C3553512|ICD10:D81.8|OMIM:614700|Orphanet:1572 owl:Class MONDO:0002946 biolink:NamedThing gynatresia A congenital or acquired occlusion of an opening in any part of the female genital tract. tmpte7i6ely_mondo_relaxed.owl DOID:429|UMLS:C0018414|MESH:D006175|EFO:1001335|NCIT:C84743 owl:Class HGNC:6677 biolink:NamedThing LPL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009751 biolink:NamedThing cardiac mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006692 biolink:NamedThing central pontine myelinolysis A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly. tmpte7i6ely_mondo_relaxed.owl osmotic demyelination syndrome SCTID:6807001|GARD:0008749|ICD9:341.8|MedDRA:10007968|EFO:1000857|MESH:D017590|NCIT:C84623|ICD10:G37.2|DOID:636|UMLS:C0206083 owl:Class OBO:CHR_9606-chr6q16 biolink:NamedThing 6q16 (Human) tmpte7i6ely_mondo_relaxed.owl 105000000 92500000 hg38 owl:Class MONDO:0007517 biolink:NamedThing ectrodactyly-cleft palate syndrome tmpte7i6ely_mondo_relaxed.owl Ecp syndrome|ectrodactyly-cleft palate syndrome UMLS:CN229012|Orphanet:1889|MESH:C565064|OMIM:129830|UMLS:C1851848 owl:Class UBERON:0016478 biolink:NamedThing liver stroma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003891 biolink:NamedThing stroma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018583 biolink:NamedThing human infection by orthopoxvirus tmpte7i6ely_mondo_relaxed.owl UMLS:CN237612|ICD10:B08.0|Orphanet:438279 owl:Class MONDO:0020204 biolink:NamedThing conjunctival tumor A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. tmpte7i6ely_mondo_relaxed.owl tumor of the conjunctiva|conjunctiva neoplasm|neoplasm of the conjunctiva|conjunctival neoplasms|conjunctiva tumor|conjunctival neoplasm|tumor of conjunctiva|conjunctiva neoplasm (disease)|conjunctival tumor|neoplasm of conjunctiva Orphanet:98616|NCIT:C2961 owl:Class MONDO:0003581 biolink:NamedThing ovarian embryonal carcinoma An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain. tmpte7i6ely_mondo_relaxed.owl embryonal carcinoma of the ovary|ovary embryonal carcinoma|ovarian embryonal carcinoma|embryonal carcinoma of ovary|embryonal carcinoma EFO:1000415|SCTID:254872007|ONCOTREE:OEC|DOID:5681|UMLS:C0346183|NCIT:C8108 owl:Class MONDO:0013218 biolink:NamedThing exudative vitreoretinopathy 5 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. tmpte7i6ely_mondo_relaxed.owl TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy 5|exudative vitreoretinopathy type 5|EVR5|exudative vitreoretinopathy caused by mutation in TSPAN12 Orphanet:891|UMLS:C2750079|DOID:0111408|OMIM:613310|MESH:C567648 owl:Class MONDO:0019340 biolink:NamedThing scleroderma Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). tmpte7i6ely_mondo_relaxed.owl scleroderma|Scleroderma|scleroderma (disease)|dermatosclerosis scleroderma (disease) HP:0100324|MedDRA:10039710|MESH:D012594|SCTID:89155008|DOID:419|NCIT:C26746|Orphanet:801 owl:Class MONDO:0030376 biolink:NamedThing Martsolf syndrome 2 tmpte7i6ely_mondo_relaxed.owl MARTS2 OMIM:619420 owl:Class HP:0000478 biolink:NamedThing Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. tmpte7i6ely_mondo_relaxed.owl Abnormality of the eye|Abnormal eye|Eye disease UMLS:C0015397|MSH:D005124|SNOMEDCT_US:19416009|SNOMEDCT_US:371409005|SNOMEDCT_US:371405004|MSH:D005128|UMLS:C0015393 human_phenotype owl:Class HGNC:18762 biolink:NamedThing SLC36A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017688 biolink:NamedThing disorder of glycolysis tmpte7i6ely_mondo_relaxed.owl UMLS:CN227176|Orphanet:308459 owl:Class MONDO:0017670 biolink:NamedThing autosomal dominant diffuse mutilating palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl autosomal dominant diffuse mutilating palmoplantar hyperkeratosis Orphanet:307773|UMLS:CN229100|ICD10:Q82.8 owl:Class GO:0043400 biolink:NamedThing cortisol secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. tmpte7i6ely_mondo_relaxed.owl hydrocortisone secretion owl:Class GO:0035933 biolink:NamedThing glucocorticoid secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000307 biolink:NamedThing tracheal epithelial cell An epithelial cell found in the trachea. tmpte7i6ely_mondo_relaxed.owl tracheocyte FMA:74793 This class is for the vertebrate tracheal structure. For the analagous insect cell type, see 'respiratory tube epithelial cell' CL:1000474 cell owl:Class HGNC:29298 biolink:NamedThing CEP152 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004766 biolink:NamedThing cranial bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013557 biolink:NamedThing Hermansky-Pudlak syndrome 5 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. tmpte7i6ely_mondo_relaxed.owl Hermansky-Pudlak syndrome 5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 5|Hermansky-Pudlak syndrome caused by mutation in HPS5|HPS5 DOID:0060543|Orphanet:79430|OMIM:614074|Orphanet:231512|UMLS:C3888004 owl:Class MONDO:0016502 biolink:NamedThing Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. tmpte7i6ely_mondo_relaxed.owl HPS without pulmonary fibrosis UMLS:CN201507|Orphanet:231512|OMIM:614072|OMIM:614075|ICD10:E70.3|OMIM:614074 owl:Class MONDO:0002300 biolink:NamedThing dermis tumor A benign, intermediate, or malignant neoplasm that arises from the dermis. tmpte7i6ely_mondo_relaxed.owl dermal tumor|neoplasm of dermis|neoplasm of the dermis|dermal neoplasm|dermis tumor|dermis neoplasm|tumor of dermis|dermis neoplasm (disease)|tumor of the dermis NCIT:C4475|DOID:2438|UMLS:C0346041 owl:Class NCBITaxon:6213 biolink:NamedThing Echinococcus vogeli tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012374 biolink:NamedThing brachyphalangy, polydactyly, and tibial aplasia/hypoplasia tmpte7i6ely_mondo_relaxed.owl brachyphalangy, polydactyly and absent tibiae|brachyphalangy, polydactyly, and tibial aplasia/hypoplasia GARD:0009893|OMIM:609945|UMLS:C1864965|MESH:C537100 https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia owl:Class MONDO:0004218 biolink:NamedThing childhood germ cell brain tumor A germ cell tumor arising from brain during childhood. tmpte7i6ely_mondo_relaxed.owl childhood germ cell brain neoplasm|childhood brain germ cell neoplasm|germ cell tumor of childhood brain|pediatric brain germ cell tumor|Brain germ cell tumor|germ cell neoplasm of childhood brain|germ cell tumor of pediatric brain|germ cell neoplasm of the childhood brain|childhood brain germ cell tumor|germ cell tumor of the childhood brain|germ cell neoplasm of the pediatric brain|germ cell neoplasm of pediatric brain|pediatric brain germ cell neoplasm|germ cell tumor of the pediatric brain UMLS:C1377598|DOID:7430|NCIT:C5795 owl:Class MONDO:0014534 biolink:NamedThing lissencephaly 6 with microcephaly Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene. tmpte7i6ely_mondo_relaxed.owl LIS6|Microlissencephaly caused by mutation in KATNB1|lissencephaly 6 with microcephaly|KATNB1 Microlissencephaly|microlissencephaly caused by mutation in KATNB1|KATNB1 microlissencephaly OMIM:616212 owl:Class MONDO:0015204 biolink:NamedThing microlissencephaly Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. tmpte7i6ely_mondo_relaxed.owl UMLS:C1956147|ICD10:Q04.3|OMIM:616212|Orphanet:1083|OMIM:614019 owl:Class MONDO:0018394 biolink:NamedThing male infertility with teratozoospermia due to single gene mutation Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. tmpte7i6ely_mondo_relaxed.owl Orphanet:399808|OMIM:243060|OMIM:613958|UMLS:CN252642|OMIM:615413|ICD10:N46|GARD:0012514|SCTID:764096006|OMIM:102530 owl:Class UBERON:0012360 biolink:NamedThing bone of jaw tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008467 biolink:NamedThing Czeizel-Losonci syndrome Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl split hand urinary anomalies spina bifida|split hand-urinary anomalies-spina bifida syndrome|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects|split hand with obstructive uropathy, spina bifida and diaphragmatic defects GARD:0004969|MESH:C566662|UMLS:C1866739|Orphanet:2437|ICD10:Q87.8|OMIM:183802 owl:Class MONDO:0016213 biolink:NamedThing leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy. tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.8|Orphanet:210133|UMLS:CN226881 owl:Class MONDO:0024235 biolink:NamedThing Brenner tumor A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature. tmpte7i6ely_mondo_relaxed.owl Brenner tumor ICDO:9000/0|ONCOTREE:BTOV|NCIT:C39954 owl:Class MONDO:0021508 biolink:NamedThing benign neoplasm of epicardium A benign neoplasm that involves the epicardium. tmpte7i6ely_mondo_relaxed.owl epicardium benign neoplasm|benign epicardial tumor|benign neoplasm of the epicardium|benign tumor of epicardium|benign epicardial neoplasm|benign tumor of the epicardium NCIT:C8535|SCTID:92087008|UMLS:C0685115 owl:Class MONDO:0009824 biolink:NamedThing primary hyperoxaluria type 2 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. tmpte7i6ely_mondo_relaxed.owl glyceric aciduria|GRHPR primary hyperoxaluria|primary hyperoxaluria type 2|hyperoxaluria, primary, type II|hyperoxaluria, primary, type 2|Oxalosis 2|HP2|glyoxylate reductase/hydroxypyruvate reductase deficiency|primary hyperoxaluria caused by mutation in GRHPR|primary hyperoxaluria type II|L-glyceric aciduria|D-glycerate dehydrogenase deficiency Orphanet:416|UMLS:C0268165|MESH:C536415|ICD9:271.8|GARD:0002836|DOID:0111671|OMIM:260000|ICD10:E74.8|Orphanet:93599|SCTID:40951006|NCIT:C123213 https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 owl:Class MONDO:0002474 biolink:NamedThing primary hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. tmpte7i6ely_mondo_relaxed.owl primary hyperoxaluria|hyperoxaluria, primary SCTID:17901006|MESH:D006960|OMIMPS:259900|MedDRA:10020703|ICD10:E74.8|ICD9:271.8|OMIM:613616|ICD10:E72.53|OMIM:260000|UMLS:C0020501|Orphanet:416|OMIM:259900|NCIT:C123158|DOID:2977 owl:Class MONDO:0054843 biolink:NamedThing ciliary dyskinesia, primary, 38 tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, PRIMARY, 38|ciliary dyskinesia, Primary, 38, with or without situs inversus|CILD38 OMIM:618063|UMLS:CN252651 owl:Class MONDO:0004670 biolink:NamedThing lupus erythematosus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. tmpte7i6ely_mondo_relaxed.owl lupus erythematosus|lupus NCIT:C27153|SCTID:200936003|ICD10:L93|UMLS:C0409974|ICD10:L93.0|ICD9:695.4|DOID:8857 owl:Class MONDO:0003574 biolink:NamedThing external ear cancer A malignant neoplasm involving the external ear. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the external Ear|malignant neoplasm of external ear|malignant neoplasm of the external ear|malignant external Ear neoplasm|external ear cancer|cancer of external ear|malignant neoplasm of the external Ear|malignant tumor of external Ear|malignant neoplasm of external Ear|malignant external Ear tumor|malignant external ear neoplasm UMLS:C0349576|DOID:5665|SCTID:277156006|NCIT:C4653 owl:Class MONDO:0004032 biolink:NamedThing ovarian seromucinous carcinoma A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium. tmpte7i6ely_mondo_relaxed.owl malignant ovarian mixed epithelial neoplasm|malignant ovarian mixed epithelial tumor|mixed epithelial carcinoma of ovary|ovarian mixed epithelial carcinoma|ovarian Seromucinous carcinoma|mixed epithelial carcinoma of the ovary EFO:1000358|UMLS:C1518232|DOID:6899|NCIT:C40090|ONCOTREE:OSMCA owl:Class MONDO:0007270 biolink:NamedThing cardiomyopathy, familial restrictive, 1 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial restrictive, 1|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|TNNI3 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, type 1|Rcm|RCM1 Orphanet:75249|UMLS:C1861861|OMIM:115210|DOID:0111425|MESH:C566168 owl:Class MONDO:0019150 biolink:NamedThing familial isolated restrictive cardiomyopathy Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. tmpte7i6ely_mondo_relaxed.owl familial or idiopathic restrictive cardiomyopathy OMIM:115210|OMIM:612422|ICD10:I42.5|OMIM:615248|Orphanet:75249|OMIM:609578|UMLS:CN205687|OMIM:617047 owl:Class GO:0033280 biolink:NamedThing response to vitamin D Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpte7i6ely_mondo_relaxed.owl response to cholecalciferol|response to ergocalciferol|response to calciferol owl:Class GO:0033273 biolink:NamedThing response to vitamin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007317 biolink:NamedThing chlorpropamide-alcohol flushing tmpte7i6ely_mondo_relaxed.owl CHLORPROPAMIDE-alcohol flushing|chlorpropamide-alcohol flushing|CPAF 2022-04-01 OMIM:118430|UMLS:C1861630 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0033856 biolink:NamedThing LAMA5-related multisystemic syndrome A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl Orphanet:521450 https://github.com/monarch-initiative/mondo/issues/3601 owl:Class HP:0000951 biolink:NamedThing Abnormality of the skin An abnormality of the skin. tmpte7i6ely_mondo_relaxed.owl Skin abnormality|dermatopathy|dermopathy|Abnormality of the skin UMLS:C0037268|MSH:D012868|MSH:D012871|UMLS:C0037274|SNOMEDCT_US:95320005|SNOMEDCT_US:199879009 HP:0007415|HP:0001479|HP:0007580|HP:0001478|HP:0006736|HP:0005591 human_phenotype owl:Class HGNC:6235 biolink:NamedThing KCNC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003159 biolink:NamedThing vascular hemostatic disease Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. tmpte7i6ely_mondo_relaxed.owl disorders, vascular hemostatic|vascular hemostatic disorders|hemostatic disorder, vascular|disorder, vascular hemostatic|hemostatic disorder|hemostatic disorders, vascular|vascular hemostatic disorder UMLS:C0600502|MESH:D020141|DOID:484|SCTID:21112004 owl:Class MONDO:0020167 biolink:NamedThing malposition of external canthus tmpte7i6ely_mondo_relaxed.owl ICD10:Q10.3|Orphanet:98576 owl:Class HGNC:10560 biolink:NamedThing ATXN7 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:84124 biolink:NamedThing D-tyrosine derivative A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom. tmpte7i6ely_mondo_relaxed.owl D-tyrosine derivatives owl:Class GO:0016773 biolink:NamedThing phosphotransferase activity, alcohol group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013938 biolink:NamedThing peroxisome biogenesis disorder 7A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 8|peroxisome biogenesis disorder 7A (Zellweger)|PBD7A|peroxisome biogenesis disorder, complementation group A DOID:0080482|UMLS:C3888385|OMIM:614872 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0016555 biolink:NamedThing transient congenital hypothyroidism due to maternal factor tmpte7i6ely_mondo_relaxed.owl ICD10:P72.2|Orphanet:238696 owl:Class MONDO:0020440 biolink:NamedThing persistent left superior vena cava connecting to the left-sided atrium Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated. tmpte7i6ely_mondo_relaxed.owl persistent left SVC connecting to the left-sided atrium|left superior caval vein persisting to the left-sided atrium|persistent left superior caval vein connecting to the left-sided atrium ICD10:Q26.1|Orphanet:99109 owl:Class HGNC:12633 biolink:NamedThing USP9Y tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009885 biolink:NamedThing Scott syndrome Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. tmpte7i6ely_mondo_relaxed.owl prothrombin consumption deficiency|bleeding abnormality due to deficiency of platelet biding of factor X|Platelet factor X receptor deficiency|bleeding disorder, Platelet-type, 7|familial prothrombin consumption inhibitor|SCTS|bleeding Abnormality due to deficiency of Platelet binding of Factor 10|familial prothrombin conversion defect|Scott syndrome|BDPLT7|platelet-type bleeding disorder 7|prothrombin conversion defect, familial|prothrombin consumption inhibitor, familial GARD:0004777|SCTID:128098009|ICD10:D69.8|Orphanet:806|OMIM:262890|DOID:0111052|MESH:C563120|UMLS:C0796149 https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome owl:Class MONDO:0003007 biolink:NamedThing childhood kidney cell carcinoma A renal cell carcinoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl renal cell carcinoma (disease) of childhood|pediatric renal cell carcinoma (disease)|childhood renal cell carcinoma|pediatric kidney cell carcinoma|childhood renal cell carcinoma (disease)|renal cell cancer|pediatric renal cell carcinoma|childhood kidney cell carcinoma DOID:4454|UMLS:C1333001|NCIT:C6568 owl:Class MONDO:0014015 biolink:NamedThing hereditary spastic paraplegia 56 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 56, autosomal recessive|hereditary spastic paraplegia caused by mutation in CYP2U1|hereditary spastic paraplegia type 56|autosomal recessive spastic paraplegia type 56|CYP2U1 hereditary spastic paraplegia|SPG56|autosomal recessive spastic paraplegia 56 OMIM:615030|UMLS:C3539507|Orphanet:320411|DOID:0110808|ICD10:G11.4 owl:Class MONDO:0008994 biolink:NamedThing cleidocranial dysplasia, recessive form tmpte7i6ely_mondo_relaxed.owl cleidocranial dysplasia recessive form|cleidocranial dysplasia, recessive form|autosomal recessive form of cleidocranial dysostosis UMLS:C1859080|GARD:0010623|OMIM:216330|MESH:C565843|Orphanet:1452 https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form owl:Class MONDO:0015284 biolink:NamedThing heart-hand syndrome type 2 Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). tmpte7i6ely_mondo_relaxed.owl heart-hand syndrome 2|Tabatznik syndrome|atriodigital dysplasia type 2 SCTID:721010003|UMLS:C2931323|MESH:C536784|ICD10:Q87.2|GARD:0009847|Orphanet:1350 owl:Class UBERON:0012075 biolink:NamedThing replacement bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010741 biolink:NamedThing tooth agenesis, selective, X-linked, 1 Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene. tmpte7i6ely_mondo_relaxed.owl hypodontia/oligodontia, X-linked, 1|tooth agenesis caused by mutation in EDA|tooth agenesis, selective, X-linked, type 1|STHAGX1|tooth agenesis, selective, X-linked, 1|EDA tooth agenesis OMIM:313500|Orphanet:99798|UMLS:C1970757|MESH:C567060 owl:Class MONDO:0010030 biolink:NamedThing Sjogren syndrome An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain tmpte7i6ely_mondo_relaxed.owl syndrome, Sjogren's|primary Sjögren-Gougerot syndrome|Sjögren syndrome|xerodermosteosis|sicca syndrome|Sjogren's syndrome|primary Sjögren syndrome|Sjögren-Gougerot syndrome|Sjogren syndrome|primary Sjogren-Gougerot syndrome MESH:D012859|ICD10:M35.0|SCTID:83901003|Orphanet:378|DOID:12894|Orphanet:289390|ICD10:M35.00|GARD:0010252|OMIM:270150|ICD9:710.2|NCIT:C26883|EFO:0000699 Editor note: check for differences with Mik PMID:10845583 owl:Class MONDO:0008911 biolink:NamedThing cardiac lipidosis, familial tmpte7i6ely_mondo_relaxed.owl cardiac lipidosis, familial MESH:C565884|OMIM:212080|Orphanet:137675|UMLS:C1859332 owl:Class MONDO:0017810 biolink:NamedThing variant ABeta2M amyloidosis A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. tmpte7i6ely_mondo_relaxed.owl autosomal dominant beta2-microglobulinic amyloidosis ICD10:E85.1|UMLS:C4302669|SCTID:722292000|UMLS:CN203779|Orphanet:314652 owl:Class HGNC:15894 biolink:NamedThing PANK2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:64709 biolink:NamedThing organic acid Any organic molecular entity that is acidic and contains carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl organic acids owl:Class UBERON:0018114 biolink:NamedThing right kidney interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019438 biolink:NamedThing aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. tmpte7i6ely_mondo_relaxed.owl aromatic hydrocarbon biosynthesis|aromatic hydrocarbon biosynthetic process|aromatic compound formation|aromatic compound anabolism|aromatic compound biosynthesis|aromatic compound synthesis owl:Class OBI:0002076 biolink:NamedThing collection of specimens A material entity that has two or more specimens as its parts. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016505 biolink:NamedThing peptidase activator activity involved in apoptotic process Binds to and increases the activity of a peptidase that is involved in the apoptotic process. tmpte7i6ely_mondo_relaxed.owl apoptotic protease activator activity owl:Class MONDO:0014727 biolink:NamedThing immunodeficiency 45 tmpte7i6ely_mondo_relaxed.owl immunodeficiency 45|IMD45|immunodeficiency type 45 UMLS:C4225252|OMIM:616669 owl:Class HGNC:11030 biolink:NamedThing SLC4A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009656 biolink:NamedThing Sanfilippo syndrome type B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis type IIIB|MPSIIIB|MPS 3B|mucopolysaccharidosis, type IIIB|N-acetyl-alpha-glucosaminidase deficiency|Sanfilippo B|mucopolysaccharidosis, type 3B|Sanfilippo syndrome B|MPS IIIB|NAGLU deficiency|mucopolysaccharidosis type 3B|MPS3B|N-Acetyl-Alpha-D-glucosaminidase deficiency|MPS III B|Mucopoly-saccharidosis type 3B Orphanet:581|NCIT:C84898|DOID:0111394|UMLS:C0086648|SCTID:59990008|GARD:0007072|Orphanet:79270|ICD10:E76.2|OMIM:252920 owl:Class MONDO:0018937 biolink:NamedThing mucopolysaccharidosis type 3 Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis, MPS-III-B|MPS3|Sanfilippo syndrome|mucopolysaccharidosis type IIIA|mucopolysaccharidosis III|mucopolysaccharidosis, MPS-III|MPSIII|MPS IIIB - Sanfilippo syndrome B|N-sulphoglucosamine sulphohydrolase deficiency|MPS IIIC - Sanfilippo syndrome C|mucopolysaccharidosis type IIIB|Sanfilippo disease|MPS IIID - Sanfilippo syndrome D|NAGLU deficiency|Mucopoly-saccharidosis type 3|N-acetyl-alpha-D-glucosaminidase deficiency|Sanfilippo's syndrome|Sanfilippo syndrome A|mucopolysaccharidosis type III|Sanfilippo syndrome B|heparan sulfate sulfatase deficiency|MPS IIIA - Sanfilippo syndrome A UMLS:C0086647|NCIT:C61262|ICD10:E76.2|OMIM:252920|UMLS:CN205330|SCTID:41572006|OMIM:252930|OMIM:252940|OMIM:252900|Orphanet:581|NCIT:C84897|NCIT:C84898|GARD:0003807|UMLS:C0086648|SCTID:88393000|DOID:12801|ICD10:E76.22|UMLS:C0026706|MedDRA:10056890 owl:Class CL:0008028 biolink:NamedThing visual system neuron tmpte7i6ely_mondo_relaxed.owl dos 2017-07-09 19:12:36+00:00 owl:Class MONDO:0015198 biolink:NamedThing aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl aniridia - ptosis - intellectual disability - familial obesity Orphanet:1067|SCTID:720987001|GARD:0000689|UMLS:CN226622 owl:Class MONDO:0023415 biolink:NamedThing congenital candidiasis A fungal infection by any of the Candida species that is present at birth. tmpte7i6ely_mondo_relaxed.owl congenital candidiasis|Congenital candidosis|Congenital Candidiasis|Congenital candidiasis SCTID:276672007|MEDGEN:575892|UMLS:C0343875|NCIT:C116811 owl:Class MONDO:0600008 biolink:NamedThing cytokine release syndrome A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. tmpte7i6ely_mondo_relaxed.owl cytokine-associated toxicity|CRS|cytokine storm NCIT:C78251 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0003493 biolink:NamedThing thymus squamous cell carcinoma A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of Thymus|squamous cell carcinoma of the Thymus|thymic squamous cell carcinoma|Thymus squamous cell carcinoma|epidermoid thymic carcinoma|thymus squamous cell carcinoma NCIT:C6455|DOID:5530|UMLS:C1336082|EFO:1000579 owl:Class UBERON:0003530 biolink:NamedThing pedal digit skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002376 biolink:NamedThing spleen angiosarcoma A malignant vascular neoplasm arising from the spleen. tmpte7i6ely_mondo_relaxed.owl angiosarcoma (disease) of spleen|splenic hemangiosarcoma|hemangiosarcoma of spleen|angiosarcoma of the spleen|spleen angiosarcoma (disease)|hemangiosarcoma of the spleen|splenic angiosarcoma|angiosarcoma of spleen ICD9:159.1|SCTID:187821001|NCIT:C4564|DOID:265|UMLS:C0346424 owl:Class MONDO:0006347 biolink:NamedThing pancreatic large cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. tmpte7i6ely_mondo_relaxed.owl large cell neuroendocrine carcinoma of pancreas|pancreatic large cell NEC G3|pancreatic large cell NEC|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma UMLS:C2987239|EFO:1000442|NCIT:C95582 owl:Class MONDO:0005057 biolink:NamedThing large cell neuroendocrine carcinoma A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. tmpte7i6ely_mondo_relaxed.owl large cell NEC|large-cell neuroendocrine carcinoma|LCNEC|large cell neuroendocrine carcinoma DOID:0050872|NCIT:C6875|ONCOTREE:LUNE|EFO:0000563|UMLS:C1265996|ICDO:8013/3 owl:Class MONDO:0009806 biolink:NamedThing Bruck syndrome 1 Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene. tmpte7i6ely_mondo_relaxed.owl Bruck syndrome 1|FKBP10 Bruck syndrome|Kuskokwim disease|arthrogryposis-like disorder|BRKS1|Bruck syndrome type 1|Bruck syndrome caused by mutation in FKBP10 Orphanet:2771|OMIM:259450|UMLS:C1850168|GARD:0001029 owl:Class MONDO:0017195 biolink:NamedThing Bruck syndrome Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta-congenital joint contractures syndrome|osteogenesis imperfecta with congenital joint contractures ICD10:M21.8|UMLS:C0432253|UMLS:C1850168|ICD9:733.99|MedDRA:10063718|DOID:0060231|SCTID:254113006|OMIM:259450|OMIM:609220|UMLS:C1836602|Orphanet:2771 owl:Class MONDO:0021630 biolink:NamedThing lipoma of face A lipoma that involves the face. tmpte7i6ely_mondo_relaxed.owl face lipoma SCTID:93159009|ICD9:214.0 owl:Class OBO:CHR_9606-chr3q1 biolink:NamedThing 3q1 (Human) tmpte7i6ely_mondo_relaxed.owl 122200000 90900000 hg38 owl:Class CHEBI:42485 biolink:NamedThing formyl group tmpte7i6ely_mondo_relaxed.owl FORMYL GROUP|aldehyde group|-CH(O)|-CHO|carbaldehyde|Fo|H-CO-|formyl|methanoyl owl:Class CHEBI:27207 biolink:NamedThing univalent carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. tmpte7i6ely_mondo_relaxed.owl univalent acyl group|univalent carboxylic acyl groups|univalent carboacyl groups owl:Class FOODON:03420110 biolink:NamedThing peel, core or seed tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001641 biolink:NamedThing transverse sinus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905555 biolink:NamedThing positive regulation of blood vessel branching Any process that activates or increases the frequency, rate or extent of blood vessel branching. tmpte7i6ely_mondo_relaxed.owl activation of branching involved in blood vessel morphogenesis|upregulation of branching involved in blood vessel morphogenesis|up-regulation of branching involved in blood vessel morphogenesis|upregulation of patterning of blood vessels|up regulation of branching involved in blood vessel morphogenesis|positive regulation of branching involved in blood vessel morphogenesis|up regulation of patterning of blood vessels|up-regulation of patterning of blood vessels|activation of patterning of blood vessels owl:Class GO:0001508 biolink:NamedThing action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042391 biolink:NamedThing regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007216 biolink:NamedThing brachydactyly type A2 Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. tmpte7i6ely_mondo_relaxed.owl brachydactyly, type A2|brachymesophalangy II|BDA2|brachydactyly, Mohr-Wriedt type|Mohr-Wriedt type brachydactyly|Brachymesophalangy type 2|Brachymesophalangy 2 Orphanet:93396|GARD:0000989|DOID:0110965|OMIM:112600|GARD:0000979|MESH:C537089|ICD10:Q73.8|SCTID:720569006 https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2|https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2 owl:Class GO:0045582 biolink:NamedThing positive regulation of T cell differentiation Any process that activates or increases the frequency, rate or extent of T cell differentiation. tmpte7i6ely_mondo_relaxed.owl upregulation of T cell differentiation|positive regulation of T cell development|up-regulation of T cell differentiation|positive regulation of T-cell differentiation|activation of T cell differentiation|up regulation of T cell differentiation|positive regulation of T-lymphocyte differentiation|positive regulation of T lymphocyte differentiation|stimulation of T cell differentiation owl:Class UBERON:0015145 biolink:NamedThing pes hair tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011354 biolink:NamedThing situs inversus totalis with cystic dysplasia of kidneys and pancreas tmpte7i6ely_mondo_relaxed.owl situs inversus totalis with cystic dysplasia of kidneys and pancreas|situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios GARD:0008567|OMIM:603643|UMLS:C1863647|MESH:C536666 https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas owl:Class MONDO:0017564 biolink:NamedThing macrodactyly of fingers, unilateral tmpte7i6ely_mondo_relaxed.owl macrodactyly of hand, unilateral ICD10:Q74.0|Orphanet:295239 owl:Class MONDO:0017474 biolink:NamedThing macrodactyly of fingers tmpte7i6ely_mondo_relaxed.owl Megalodactyly of the hand|macrodactyly of hand|macrodactyly of the hand|megalodactylism of the hand MESH:C537720|SCTID:297195000|HP:0100746|Orphanet:295044|GARD:0008529|ICD10:Q74.0 owl:Class UBERON:0005226 biolink:NamedThing pedal digit epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012250 biolink:NamedThing cervix glandular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002425 biolink:NamedThing rectosigmoid junction cancer A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the rectosigmoid junction|cancer of rectosigmoid junction|malignant tumor of the rectosigmoid junction|malignant neoplasm of rectosigmoid junction|rectosigmoid junction cancer|malignant rectosigmoid neoplasm|malignant neoplasm of rectosigmoid|malignant rectosigmoid tumor|malignant tumor of rectosigmoid junction|malignant rectosigmoid junction neoplasm ICD9:154.0|DOID:2782|UMLS:C0153443|NCIT:C7420|ICD10:C19|SCTID:363414004 owl:Class NCBITaxon:70426 biolink:NamedThing Oxyuridomorpha tmpte7i6ely_mondo_relaxed.owl Oxyurida GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005080 biolink:NamedThing metanephric ureteric bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015796 biolink:NamedThing liver blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100186 biolink:NamedThing GTP cyclohydrolase I deficiency with hyperphenylalaninemia tmpte7i6ely_mondo_relaxed.owl GTP cyclohydrolase I deficiency|dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|hyperphenylalaninemia, Bh4-deficient, type B|hyperphenylalaninemia, BH4-deficient, B|HPABH4B|GTP cyclohydrolase 1 deficiency|hyperphenylalaninemia due to GTP cyclohydrolase deficiency|GTPCH deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency SCTID:23447005|NCIT:C141442|Orphanet:2102|GARD:0002844|OMIM:233910|Orphanet:238583|UMLS:C0268467|UMLS:C2673535|ICD10:E70.1 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency owl:Class HGNC:1936 biolink:NamedThing CHIT1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000073 biolink:NamedThing building A permanent walled and roofed construction. tmpte7i6ely_mondo_relaxed.owl BUILDING|building owl:Class HGNC:9217 biolink:NamedThing POU3F4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021783 biolink:NamedThing streptococcal sore throat Inflammation of the throat due to Streptococcus pyogenes. tmpte7i6ely_mondo_relaxed.owl Strep throat|Streptococcal pharyngitis|strep throat|Streptococcal angina|Streptococcal Pharyngitis|streptococcal pharyngitis|Strept throat|Septic sore throat|Streptococcal sore throat ICD9:034.0|NCIT:C116003|EFO:1002024|UMLS:C0036689|SCTID:43878008 owl:Class MONDO:0021680 biolink:NamedThing streptococcal infection Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. tmpte7i6ely_mondo_relaxed.owl Streptococcus infectious disease|Streptococcus caused disease or disorder|infection, streptococcal|streptococcal infection|Streptococcus disease or disorder|infections, streptococcal EFO:1001476|UMLS:C0038395|MESH:D013290|ICD9:041.09|ICD9:041.00|NCIT:C87062|SCTID:85769006 owl:Class MONDO:0014094 biolink:NamedThing severe congenital hypochromic anemia with ringed sideroblasts STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. tmpte7i6ely_mondo_relaxed.owl anemia, hypochromic microcytic, with iron overload 2|anemia, hypochromic microcytic, with iron overload type 2|AHMIO2|severe congenital hypochromic sideroblastic anemia UMLS:C4511137|SCTID:725463007|ICD10:D64.0|UMLS:C3808920|Orphanet:300298|OMIM:615234 owl:Class NCBITaxon:147573 biolink:NamedThing Piedraia hortae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147572 biolink:NamedThing Piedraia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015350 biolink:NamedThing 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Grisart-Destree syndrome|dup(17)(q11.2)|trisomy 17q11.2|Grisart-Destrée syndrome UMLS:C4304642|Orphanet:139474|UMLS:CN199408|OMIM:613675|SCTID:719583002|ICD10:Q92.3 owl:Class MONDO:0005440 biolink:NamedThing embryonal carcinoma A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). tmpte7i6ely_mondo_relaxed.owl primary extragonadal embryonal carcinoma|embryonal carcinoma|carcinoma, embryonal, malignant MESH:D018236|ICD10:C71.9|ICD10:C22.7|EFO:0004986|ICDO:9070/3|ONCOTREE:EMBCA|NCIT:C3752|Orphanet:180226|GARD:0005140|DOID:3308|UMLS:C0206659 Editor note: TODO check classification w.r.t carcinoma https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma owl:Class MONDO:0015054 biolink:NamedThing hereditary angioedema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpte7i6ely_mondo_relaxed.owl hereditary angioneurotic edema type 2|HAE-II|HAE 2 Orphanet:100051|UMLS:C1862892|OMIM:106100|ICD10:D84.1 owl:Class MONDO:0033946 biolink:NamedThing hereditary angioedema with C1Inh deficiency Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. tmpte7i6ely_mondo_relaxed.owl angioedema, hereditary, type 1/2|angioedema, hereditary, type 1|angioedema, hereditary, type I|HAE1|angioedema, hereditary, type 2|C1 esterase inhibitor, deficiency of|angioneurotic edema, hereditary Orphanet:91378|UMLS:C0019243|Orphanet:100050|Orphanet:528623|Orphanet:100051|UMLS:C1862892|OMIM:106100 owl:Class HGNC:32700 biolink:NamedThing CCDC103 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013498 biolink:NamedThing schizophrenia 15 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33. tmpte7i6ely_mondo_relaxed.owl schizophrenia 15 with or without an affective disorder|SCZD15|schizophrenia susceptibility locus, chromosome 22Q13-related|schizophrenia type 15|schizophrenia 15 OMIM:613950|DOID:0070091|UMLS:C3151380 owl:Class HGNC:4241 biolink:NamedThing GFPT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000979 biolink:NamedThing pinta disease An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. tmpte7i6ely_mondo_relaxed.owl infection by Treponema carateum|Lota|endemic treponematosis caused by Treponema carateum|pinta|Azul|Empeines|Carate|Tina|Mal del pinto ICD9:103.1|ICD10:A67.2|EFO:1001396|ICD10:A67.1|ICD9:103.9|DOID:1022|SCTID:22064009|NCIT:C85011|MESH:D010874|ICD10:A67.9|ICD10:A67.0|ICD9:103.0|ICD9:103.3|ICD10:A67.3|GARD:0007397|ICD9:103|ICD10:A67|ICD9:103.2|UMLS:C0031946 NCBI Taxonomy appears to lack an entry for T carateum owl:Class HGNC:61 biolink:NamedThing ABCD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100355 biolink:NamedThing classic or non-classic genetic disease presentation A classic (severe) or non-classic (mild or intermediate) form of a genetic disease. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class MONDO:0015573 biolink:NamedThing subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. tmpte7i6ely_mondo_relaxed.owl Orphanet:163525|UMLS:C0024140|ICD10:L93.1|SCTID:239891002|NCIT:C117111|MedDRA:10057903 owl:Class MONDO:0005462 biolink:NamedThing primitive neuroectodermal tumor A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. tmpte7i6ely_mondo_relaxed.owl neuroectodermal neoplasm|primitive neuroectodermal tumor|PNET|neuroectodermal tumor|neuroepithelioma|primitive neuroectodermal neoplasm|primitive neuroectodermal tumor (PNET) DOID:171|ICDO:9503/3|ONCOTREE:PNET|NCIT:C3716|MESH:D017599|EFO:0005235|ICDO:9473/3 Editor note: TODO check relationship to neuroepithelioma owl:Class HGNC:3334 biolink:NamedThing EMP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002019 biolink:NamedThing accessory XI nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0120190 biolink:NamedThing negative regulation of bile acid secretion Any process that stops, prevents or reduces the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100296 biolink:NamedThing Olmsted syndrome 1 Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. tmpte7i6ely_mondo_relaxed.owl palmoplantar and periorificial keratoderma|Olmsted syndrome|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Orphanet:659|UMLS:C2609071|ICD10:Q82.8|OMIM:614594|MedDRA:10068842|OMIM:300918|GARD:0004075 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002232 biolink:NamedThing nasal cavity disorder A disease involving the nasal cavity. tmpte7i6ely_mondo_relaxed.owl nasal cavity disease or disorder|nasal cavity disorder|disorder of nasal cavity|disease or disorder of nasal cavity|nasal cavity disease|disease of nasal cavity NCIT:C27102|UMLS:C0339820|SCTID:232340005|DOID:2163 owl:Class HGNC:2180 biolink:NamedThing COCH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032705 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION|MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome|NEDMEHM OMIM:618367|Orphanet:597874 https://github.com/monarch-initiative/mondo/issues/3542 owl:Class MONDO:0016689 biolink:NamedThing gemistocytic astrocytoma A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl gemistocytic astrocytic tumor|gemistocytic astrocytoma|gemistocytic astrocytoma (morphologic abnormality)|Gemistocytoma DOID:7005|Orphanet:251604|ICD10:C71.9|ICDO:9411/3|MESH:D001254|UMLS:C0334581|NCIT:C4321 owl:Class GO:0033046 biolink:NamedThing negative regulation of sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007014 biolink:NamedThing vibrio infectious disease Infections with bacteria of the genus vibrio. tmpte7i6ely_mondo_relaxed.owl Vibrio caused disease or disorder|Vibrio disease or disorder|Vibrio infectious disease|vibrio infectious disease EFO:1001235|MESH:D014735|UMLS:C0042636 owl:Class UBERON:0015037 biolink:NamedThing pedal digit 1 metatarsal endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0106122 biolink:NamedThing negative regulation of cobalamin metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021718 biolink:NamedThing polyneuritis Inflammation of several peripheral nerves. tmpte7i6ely_mondo_relaxed.owl inflammatory polyneuropathy|Polyneuritides|Polyneuritis|Inflammatory polyneuropathy|polyneuritis|Multiple neuritis UMLS:C0032541|SCTID:76886005|GTR:AN1355640|GTR:AN1353837|NCIT:C26864|HP:0031003 owl:Class UBERON:0004215 biolink:NamedThing back nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032685 biolink:NamedThing infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development tmpte7i6ely_mondo_relaxed.owl INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT|infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development|CASGID OMIM:618339 owl:Class ECTO:7000069 biolink:NamedThing exposure to organic material A exposure event involving the interaction of an exposure receptor to organic material. tmpte7i6ely_mondo_relaxed.owl organic material exposure owl:Class MONDO:0000152 biolink:NamedThing thiamine-responsive dysfunction syndrome tmpte7i6ely_mondo_relaxed.owl thiamine-responsive dysfunction syndrome OMIMPS:249270 owl:Class MONDO:0017538 biolink:NamedThing Preaxial polydactyly of toes, bilateral tmpte7i6ely_mondo_relaxed.owl bifid great toes, bilateral|bifid hallux, bilateral|bifid halluces, bilateral ICD10:Q69.2|Orphanet:295177 owl:Class MONDO:0017457 biolink:NamedThing Preaxial polydactyly of toes tmpte7i6ely_mondo_relaxed.owl bifid halluces|bifid hallux|bifid great toes|preaxial polydactyly of foot ICD10:Q69.2|Orphanet:295006|SCTID:205132000|GARD:0012771 owl:Class HGNC:3005 biolink:NamedThing DPM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009122 biolink:NamedThing Dohle bodies and leukemia tmpte7i6ely_mondo_relaxed.owl Dohle bodies and leukemia UMLS:C1857225|OMIM:223350|MESH:C565617 owl:Class MONDO:0006839 biolink:NamedThing Lutembacher syndrome A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. tmpte7i6ely_mondo_relaxed.owl syndrome, Lutembacher's|syndrome, Lutembacher|Lutembacher's syndrome|Lutembacher syndrome|Lutembacher's anomaly|Lutembachers syndrome MESH:D008185|DOID:1998|UMLS:C0024164|EFO:1001024|SCTID:204319006 owl:Class HGNC:19041 biolink:NamedThing COQ8B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004495 biolink:NamedThing myotonic cataract A cataract occurring as a sequela of myotonic dystrophy. tmpte7i6ely_mondo_relaxed.owl NCIT:C34833|DOID:82|UMLS:C0027128|ICD9:359.29|ICD9:366.43|SCTID:64741003 owl:Class MONDO:0008973 biolink:NamedThing chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia punctata syndrome|Toriello-Higgins-Miller syndrome Orphanet:79347|MESH:C565853|SCTID:715631005|ICD10:Q77.3|OMIM:215105 owl:Class UBERON:0006862 biolink:NamedThing diaphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099170 biolink:NamedThing postsynaptic modulation of chemical synaptic transmission Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001218 biolink:NamedThing acute laryngopharyngitis An upper respiratory tract disease which involves inflammation of both larynx and pharynx. tmpte7i6ely_mondo_relaxed.owl UMLS:C0155817|SCTID:55355000|ICD9:465.0|ICD10:J06.0|DOID:11195 owl:Class UBERON:0001975 biolink:NamedThing serosa of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009774 biolink:NamedThing cloacal exstrophy A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. tmpte7i6ely_mondo_relaxed.owl omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|OEIS syndrome|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|cloacal exstrophy|cloacal exstrophy sequence|OEIS complex|cloacal exstrophy (disease)|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|omphalocele-exstrophy-imperforate anus-spinal defects cloacal exstrophy (disease) Orphanet:322|SCTID:20815007|HP:0010475|Orphanet:93929|MESH:C537748|ICD10:Q64.1|ICD9:759.89|MedDRA:10067424|DOID:0080175|NCIT:C99142|UMLS:C0345217|GARD:0004080 https://github.com/monarch-initiative/mondo/issues/3650 owl:Class MONDO:0001871 biolink:NamedThing acute diffuse glomerulonephritis An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. tmpte7i6ely_mondo_relaxed.owl diffuse glomerulonephritis, acute|acute diffuse glomerulonephritis|acute diffuse nephritis DOID:14066|NCIT:C35587|SCTID:197585004|UMLS:C0341689 owl:Class MONDO:0003137 biolink:NamedThing diffuse glomerulonephritis Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. tmpte7i6ely_mondo_relaxed.owl DOID:4781|NCIT:C35799|UMLS:C0859036 owl:Class GO:1901716 biolink:NamedThing negative regulation of gamma-aminobutyric acid catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpte7i6ely_mondo_relaxed.owl inhibition of GABA catabolic process|downregulation of 4-aminobutanoate catabolic process|down regulation of gamma-aminobutyric acid degradation|down regulation of 4-aminobutanoate catabolism|down-regulation of gamma-aminobutyric acid breakdown|negative regulation of 4-aminobutanoate catabolic process|negative regulation of GABA catabolism|negative regulation of gamma-aminobutyric acid degradation|downregulation of gamma-aminobutyric acid catabolic process|down regulation of GABA catabolic process|downregulation of gamma-aminobutyric acid degradation|down-regulation of GABA catabolism|downregulation of 4-aminobutyrate catabolism|down-regulation of 4-aminobutyrate catabolism|inhibition of gamma-aminobutyric acid breakdown|downregulation of gamma-aminobutyric acid breakdown|down regulation of gamma-aminobutyric acid catabolism|down-regulation of gamma-aminobutyric acid catabolism|inhibition of 4-aminobutanoate catabolism|negative regulation of gamma-aminobutyric acid catabolism|downregulation of GABA catabolic process|inhibition of 4-aminobutanoate catabolic process|downregulation of 4-aminobutanoate catabolism|down regulation of 4-aminobutyrate catabolic process|inhibition of GABA catabolism|down regulation of GABA catabolism|negative regulation of 4-aminobutyrate catabolism|negative regulation of gamma-aminobutyric acid breakdown|down-regulation of GABA catabolic process|down-regulation of 4-aminobutanoate catabolic process|negative regulation of 4-aminobutanoate catabolism|negative regulation of 4-aminobutyrate catabolic process|downregulation of gamma-aminobutyric acid catabolism|down-regulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutyrate catabolic process|downregulation of GABA catabolism|down regulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutyrate catabolism|inhibition of 4-aminobutyrate catabolic process|down regulation of gamma-aminobutyric acid breakdown|down regulation of 4-aminobutyrate catabolism|down regulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid catabolism|down-regulation of gamma-aminobutyric acid catabolic process|negative regulation of GABA catabolic process|down-regulation of gamma-aminobutyric acid degradation|inhibition of gamma-aminobutyric acid degradation|inhibition of gamma-aminobutyric acid catabolic process|down-regulation of 4-aminobutyrate catabolic process owl:Class MONDO:0004122 biolink:NamedThing thymus small cell carcinoma An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. tmpte7i6ely_mondo_relaxed.owl small cell carcinoma of Thymus|thymic small cell carcinoma|small cell carcinoma of the Thymus|small cell carcinoma of thymus|thymic small cell carcinoma neuroendocrine type|Thymus small cell carcinoma|thymus small cell carcinoma NCIT:C6460|EFO:1000578|DOID:7142|UMLS:C1335980 owl:Class FOODON:03510021 biolink:NamedThing animal as food consumer tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03510136 biolink:NamedThing food consumer group A food consumer group is a class of organism based on their heterotrophic requirements or preferences. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030995 biolink:NamedThing global developmental delay with speech and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl GDSBA OMIM:619243 owl:Class MONDO:0013243 biolink:NamedThing neuronopathy, distal hereditary motor, type 2C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. tmpte7i6ely_mondo_relaxed.owl neuronopathy, distal hereditary motor, type IIC|HMN 2C|neuronopathy, distal hereditary motor caused by mutation in HSPB3|HMN2C|neuropathy, distal hereditary motor, type 2C|HSPB3 neuronopathy, distal hereditary motor DOID:0111209|OMIM:613376|Orphanet:139525|UMLS:C3150619 owl:Class MONDO:0000075 biolink:NamedThing neuronopathy, distal hereditary motor tmpte7i6ely_mondo_relaxed.owl See genetic heterogeneity of OMIM 182960. owl:Class MONDO:0004894 biolink:NamedThing cyclotropia tmpte7i6ely_mondo_relaxed.owl DOID:9838|ICD9:378.33|SCTID:70486007|UMLS:C0152209|ICD10:H50.41 owl:Class MONDO:0013681 biolink:NamedThing alpha-methylacyl-CoA racemase deficiency A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. tmpte7i6ely_mondo_relaxed.owl alpha-methylacyl-CoA racemase deficiency|AMACRD|AMACR deficiency|AMACR EFO:1001980|NCIT:C119677|DOID:0060602|UMLS:C3280428|MESH:C565768|OMIM:614307|Orphanet:79095|SCTID:700463002 owl:Class GO:0120035 biolink:NamedThing regulation of plasma membrane bounded cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015073 biolink:NamedThing gallbladder neuroendocrine tumor, grade 1/2 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder. tmpte7i6ely_mondo_relaxed.owl gallbladder neuroendocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder well differentiated endocrine tumor|gallbladder NET ICD10:C23|NCIT:C96918|Orphanet:100086|UMLS:CN197366|UMLS:C3273116 owl:Class HP:0005390 biolink:NamedThing Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. tmpte7i6ely_mondo_relaxed.owl Frequent opportunistic infections UMLS:C1832324 HP:0005426 human_phenotype owl:Class MONDO:0003321 biolink:NamedThing hereditary Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) tmpte7i6ely_mondo_relaxed.owl familial Wilms tumor|hereditary kidney adenosarcoma|familial Wilms' tumor|hereditary Wilms' tumor|hereditary renal adenosarcoma|hereditary Wilms tumor|WT1|hereditary nephroblastoma OMIMPS:194070|NCIT:C8496|UMLS:C0677779|DOID:5183 owl:Class MONDO:0003875 biolink:NamedThing childhood central nervous system mature teratoma A mature teratoma that arises from the central nervous system during childhood. tmpte7i6ely_mondo_relaxed.owl central nervous system mature teratoma of childhood|pediatric central nervous system mature teratoma|childhood central nervous system mature teratoma UMLS:C1332955|NCIT:C27404|DOID:6423 owl:Class MONDO:0018360 biolink:NamedThing neonatal lupus erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. tmpte7i6ely_mondo_relaxed.owl neonatal SLE|neonatal lupus syndrome|neonatal lupus|congenital lupus|neonatal systemic lupus erythematosus|congenital lupus erythematosus UMLS:C0409979|SCTID:95609003|NCIT:C99236|GARD:0009563|ICD10:M32.8|Orphanet:398124|MESH:C536397|EFO:0004537 owl:Class MONDO:0001848 biolink:NamedThing Morgagni cataract A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag. tmpte7i6ely_mondo_relaxed.owl Morgagnian cataract|hypermature cataract ICD9:366.18|UMLS:C0152258|SCTID:264443002|DOID:13964 owl:Class MONDO:0045049 biolink:NamedThing hypermature cataract tmpte7i6ely_mondo_relaxed.owl hypermature cataract SCTID:267626000|ICD9:366.18 owl:Class MONDO:0014507 biolink:NamedThing Catel-Manzke syndrome Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. tmpte7i6ely_mondo_relaxed.owl Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|micrognathia digital syndrome|Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|CATMANS|Pierre Robin syndrome with hyperphalangy and clinodactyly|Palatodigital syndrome, Catel-Manzke type|Palatodigital syndrome Catel-Manzke type|Catel Manzke syndrome|Catel-Manzke syndrome|index finger anomaly with Pierre Robin syndrome|index finger anomaly-Pierre Robin syndrome MESH:C535347|OMIM:616145|SCTID:722383001|ICD10:Q87.8|GARD:0000028|Orphanet:1388|UMLS:C1844887 https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome owl:Class MONDO:0002363 biolink:NamedThing papilloma A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. tmpte7i6ely_mondo_relaxed.owl papilloma (except papilloma of bladder M-81201) (morphologic abnormality)|papillomatosis NOS (morphologic abnormality)|papilloma|papilloma, benign DOID:2615|UMLS:C0030354|ICDO:8050/0|NCIT:C3713|NCIT:C7440|MESH:D010212|SCTID:711329002 owl:Class NCBITaxon:42458 biolink:NamedThing Lichtheimia corymbifera tmpte7i6ely_mondo_relaxed.owl Mycocladus corymbiferus|Absidia corymbifera|Mucor corymbifer|Mycocladus corymbifer GC_ID:1|PMID:17997297 NCBITaxon:2231641 ncbi_taxonomy owl:Class NCBITaxon:688353 biolink:NamedThing Lichtheimia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:5005 biolink:NamedThing HMGCL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010462 biolink:NamedThing syndromic X-linked intellectual disability Chudley-Schwartz type A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic, Chudley-Schwartz type|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type|intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|MRXSCS DOID:0060819|UMLS:C3275471|OMIM:300861 owl:Class MONDO:0002533 biolink:NamedThing papillary adenoma An adenoma characterized by the presence of papillary epithelial patterns. tmpte7i6ely_mondo_relaxed.owl adenoma, papillary, benign|papillary adenoma|papillary adenoma NOS (morphologic abnormality)|glandular papilloma MESH:D000236|UMLS:C0205650|DOID:3172|NCIT:C79951 owl:Class MONDO:0019464 biolink:NamedThing heavy chain disease Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. tmpte7i6ely_mondo_relaxed.owl heavy chain disease|HCD ICD10:C88.3|MedDRA:10019350|SCTID:61493004|ICD10:C88.2|NCIT:C3082|SCTID:109984001|NCIT:C3083|UMLS:C0018852|ICD9:273.2|DOID:0060125|MESH:D006362|NCIT:C3892|ICDO:9762/3|Orphanet:86864|EFO:1001341|SCTID:68979007 owl:Class UBERON:0010977 biolink:NamedThing flexor pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011072 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 2 tmpte7i6ely_mondo_relaxed.owl NIDDM2|noninsulin-dependent diabetes mellitus 2|diabetes mellitus, noninsulin-dependent, 2 OMIM:601407|MESH:C563323|UMLS:C1832387 owl:Class HGNC:4367 biolink:NamedThing GM2A tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001678 biolink:NamedThing fluid layer A layer which is composed primarily of some fluid. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000265 biolink:NamedThing aspiration pneumonia A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. tmpte7i6ely_mondo_relaxed.owl aspiration pneumonia (disease)|Mendelson syndrome|syndrome, acid aspiration|acid aspiration syndromes|gastric acid aspiration syndrome|syndrome, Mendelson's|syndromes, acid aspiration|acid aspiration syndrome|inhalation pneumonia|aspiration pneumonia|Pneumonias, aspiration|Mendelsons syndrome|syndrome, Mendelson|Mendelson's syndrome|aspiration Pneumonias aspiration pneumonia (disease) UMLS:C0085740|DOID:0050152|HP:0011951|ICD10:J69.0|SCTID:422588002|UMLS:C0032290|MESH:D011015 owl:Class MONDO:0001443 biolink:NamedThing tympanosclerosis The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing. tmpte7i6ely_mondo_relaxed.owl ICD10:H74.0|DOID:1214|ICD9:385.00|ICD9:385.09|SCTID:23606001|MESH:D063371 owl:Class HGNC:43 biolink:NamedThing TAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:76731 biolink:NamedThing EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*). tmpte7i6ely_mondo_relaxed.owl EC 1.5.* inhibitor|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitors|EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitors|EC 1.5.* inhibitors|inhibitors of oxidoreductase acting on CH-NH group of donor|inhibitor of oxidoreductase acting on CH-NH group of donors|inhibitors of oxidoreductase acting on CH-NH group of donors|inhibitor of oxidoreductase acting on CH-NH group of donor|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitor owl:Class UBERON:0003478 biolink:NamedThing vein of lower lip tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013136 biolink:NamedThing vein of lip tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001677 biolink:NamedThing fluid interface layer A surface layer which separates two portions of fluid with respect to either 1) a discontinuity of some fluid property or 2) some derivative of one of these properties in a direction normal to the interface. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20859 biolink:NamedThing SLC39A13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0036591 biolink:NamedThing adrenal cortex neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) tmpte7i6ely_mondo_relaxed.owl adrenocortical tumor|tumor of adrenal cortex|adrenal cortex tumor|adrenal cortex neoplasm|neoplasm of adrenal cortex|adrenocortical neoplasm NCIT:C2858 owl:Class MONDO:0002816 biolink:NamedThing adrenal cortex disorder A disease involving the adrenal cortex. tmpte7i6ely_mondo_relaxed.owl disorder of adrenal cortex|disease of adrenal cortex|disease or disorder of adrenal cortex|adrenal cortex disease|adrenal cortex disease or disorder UMLS:C0001614|DOID:3952|MESH:D000303|SCTID:129636003 owl:Class MONDO:0009592 biolink:NamedThing metaphyseal acroscyphodysplasia Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. tmpte7i6ely_mondo_relaxed.owl wedge-Shaped epiphyses of knees|Bellini Chiumello Rimoldi syndrome|wedge-shaped epiphyses of the knees with intellectual disability and short stature|Bellini syndrome|metaphyseal acroscyphodysplasia|wedge-shaped epiphyses of the knees with mental retardation and short stature|cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|wedge-shaped epiphyses of knees GARD:0003519|MESH:C537350|ICD10:Q78.5|UMLS:C1855243|OMIM:250215|Orphanet:1240 https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia owl:Class MONDO:0000137 biolink:NamedThing leukoencephalopathy, megalencephalic tmpte7i6ely_mondo_relaxed.owl OMIMPS:604004 owl:Class NCBITaxon:69474 biolink:NamedThing Orientia tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:8590688 ncbi_taxonomy owl:Class NCBITaxon:33988 biolink:NamedThing Rickettsieae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11760958|PMID:8240958 ncbi_taxonomy owl:Class MONDO:0000486 biolink:NamedThing craniofacial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. tmpte7i6ely_mondo_relaxed.owl cranio-facial dystonia DOID:0050845|GARD:0010667|UMLS:C4023011 MONDO:0022885 https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia owl:Class MONDO:0033672 biolink:NamedThing Duane anomaly-myopathy-scoliosis syndrome Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap. tmpte7i6ely_mondo_relaxed.owl Orphanet:50817 owl:Class NCIT:C36753 biolink:NamedThing Neoplastic Epithelial Cell tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C12922 biolink:NamedThing Neoplastic Cell tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001804 biolink:NamedThing capsule of lens tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011428 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. tmpte7i6ely_mondo_relaxed.owl EEC3|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|EEC syndrome caused by mutation in TP63|EEC syndrome 3|TP63 EEC syndrome|ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3 Orphanet:1896|UMLS:C0406704|MESH:C565799|DOID:0060783|OMIM:604292|ICD10:Q82.4 owl:Class MONDO:0017485 biolink:NamedThing femoral agenesis/hypoplasia, bilateral tmpte7i6ely_mondo_relaxed.owl femoral intercalary meromelia, bilateral ICD10:Q72.4|Orphanet:295067 owl:Class MONDO:0016032 biolink:NamedThing femoral agenesis/hypoplasia Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. tmpte7i6ely_mondo_relaxed.owl congenital short femur|femoral intercalary meromelia ICD9:755.34|SCTID:93255008|ICD10:Q72.4|GARD:0001503|Orphanet:1987 owl:Class GO:0060101 biolink:NamedThing negative regulation of phagocytosis, engulfment Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060778 biolink:NamedThing adult Fanconi syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. tmpte7i6ely_mondo_relaxed.owl adult Fanconi syndrome|adult Fanconi's syndrome NCIT:C4377 owl:Class GO:0071496 biolink:NamedThing cellular response to external stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043066 biolink:NamedThing negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. tmpte7i6ely_mondo_relaxed.owl down regulation of apoptosis|apoptosis inhibitor activity|negative regulation of apoptosis|inhibition of apoptosis|down-regulation of apoptosis|anti-apoptosis|pro-survival|downregulation of apoptosis owl:Class MONDO:0032664 biolink:NamedThing ciliary dyskinesia, primary, 40 tmpte7i6ely_mondo_relaxed.owl Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus|CILD40|CILIARY DYSKINESIA, PRIMARY, 40 OMIM:618300 owl:Class MONDO:0009237 biolink:NamedThing focal epithelial hyperplasia Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. tmpte7i6ely_mondo_relaxed.owl FEH, oral|multifocal epithelial hyperplasia|heck disease|heck's disease|focal epithelial hyperplasia, oral ICD9:528.79|SCTID:6121001|OMIM:229045|DOID:5362|NCIT:C97083|UMLS:C0206067|EFO:0007275|MESH:D017573 owl:Class MONDO:0014491 biolink:NamedThing immunodeficiency 37 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. tmpte7i6ely_mondo_relaxed.owl primary immunodeficiency disease caused by mutation in BCL10|immunodeficiency type 37|IMD37|immunodeficiency 37|BCL10 primary immunodeficiency disease UMLS:C4015195|OMIM:616098 owl:Class UBERON:0003855 biolink:NamedThing gonad mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018504 biolink:NamedThing undifferentiated carcinoma of stomach A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation. tmpte7i6ely_mondo_relaxed.owl undifferentiated gastric (stomach) cancer|undifferentiated gastric carcinoma|Gastric undifferentiated carcinoma|stomach undifferentiated carcinoma|anaplastic gastric carcinoma|anaplastic carcinoma of the stomach|undifferentiated carcinoma of stomach|undifferentiated carcinoma of the stomach|undifferentiated stomach adenocarcinoma|anaplastic carcinoma of stomach SCTID:766757006|ICD10:C16.1|ICD10:C16.2|NCIT:C5476|ICD10:C16.6|UMLS:C1336858|ONCOTREE:USTAD|UMLS:CN237509|ICD10:C16.8|ICD10:C16.5|Orphanet:423786|ICD10:C16.4|ICD10:C16.3|ICD10:C16.0 owl:Class HGNC:9966 biolink:NamedThing REST tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045989 biolink:NamedThing positive regulation of striated muscle contraction Any process that activates or increases the frequency, rate or extent of striated muscle contraction. tmpte7i6ely_mondo_relaxed.owl stimulation of striated muscle contraction|activation of striated muscle contraction|upregulation of striated muscle contraction|up-regulation of striated muscle contraction|up regulation of striated muscle contraction owl:Class HP:0010527 biolink:NamedThing Astereognosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. tmpte7i6ely_mondo_relaxed.owl Astereognosis|Somatosensory agnosia SNOMEDCT_US:25094008|UMLS:C0234505|MSH:D000377 peter 2009-09-20T11:41:58Z human_phenotype owl:Class HGNC:4166 biolink:NamedThing GAS8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009448 biolink:NamedThing gamma-aminobutyric acid metabolic process The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. tmpte7i6ely_mondo_relaxed.owl GABA metabolic process|GABA metabolism|4-aminobutanoate metabolic process|4-aminobutyrate metabolism|gamma-aminobutyric acid metabolism|4-aminobutyrate metabolic process|4-aminobutanoate metabolism owl:Class MONDO:0007335 biolink:NamedThing orofacial cleft 1 Cleft lip with or without cleft palate mapped to chromosome 6p24. tmpte7i6ely_mondo_relaxed.owl orofacial cleft 1|cleft Lip/palate, nonsyndromic|OFC1|orofacial cleft, nonsyndromic|cleft lip with or without cleft palate, nonsyndromic, 1 DOID:0080395|MESH:C566121|NCIT:C124838|Orphanet:1991|UMLS:C1861537|OMIM:119530 owl:Class MONDO:0019786 biolink:NamedThing severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14. tmpte7i6ely_mondo_relaxed.owl Orphanet:94066|ICD10:Q87.8 owl:Class MONDO:0000923 biolink:NamedThing interstitial emphysema Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. tmpte7i6ely_mondo_relaxed.owl pulmonary interstitial emphysema|pie|interstitial emphysema of lung SCTID:77690003|ICD9:518.1|UMLS:C1370824|DOID:10030|ICD10:J98.2|NCIT:C34571 owl:Class MONDO:0010451 biolink:NamedThing intellectual disability, X-linked 41 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in GDI1|mental retardation, X-linked 48|mental retardation, X-linked 41|GDI1 non-syndromic X-linked intellectual disability|MRX41|mental retardation, X-linked type 41|intellectual disability, X-linked 48|intellectual disability, X-linked type 41|intellectual disability, X-linked 41 OMIM:300849|UMLS:C3887939 owl:Class MONDO:0003766 biolink:NamedThing thalamic cancer A cancer involving a dorsal plus ventral thalamus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of dorsal plus ventral thalamus|malignant tumor of thalamus|malignant neoplasm of the thalamus|malignant thalamus tumors|malignant thalamus neoplasm|malignant dorsal plus ventral thalamus neoplasm|malignant thalamic tumors|malignant thalamus tumor|dorsal plus ventral thalamus cancer|malignant thalamus neoplasms|malignant neoplasm of thalamus|thalamic neoplasm|malignant thalamic neoplasms|malignant thalamic tumor|tumor of thalamus|malignant thalamic neoplasm|cancer of dorsal plus ventral thalamus|malignant tumor of the thalamus NCIT:C4576|SCTID:188287005|UMLS:C0346902|DOID:6098 owl:Class MONDO:0006791 biolink:NamedThing hyperemesis gravidarum Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. tmpte7i6ely_mondo_relaxed.owl pregnancy pernicious vomiting|hyperemesis gravidarum (disease)|pernicious vomiting of pregnancy|hyperemesis gravidarum hyperemesis gravidarum (disease) SCTID:14094001|EFO:1000971|MESH:D006939|MedDRA:10020614|HP:0012188|NCIT:C87084 owl:Class MONDO:0018702 biolink:NamedThing Castleman-Kojima disease A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly tmpte7i6ely_mondo_relaxed.owl thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome|TAFRO syndrome Orphanet:457077|ICD10:M35.8|UMLS:CN237773 owl:Class CL:0008001 biolink:NamedThing hematopoietic precursor cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006590 biolink:NamedThing remnant of embryonic structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003479 biolink:NamedThing toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. tmpte7i6ely_mondo_relaxed.owl acute chemical fume pulmonary edema|acute chemical pulmonary edema UMLS:C3714582|SCTID:233733000|ICD9:506.9|DOID:551 owl:Class GO:0099094 biolink:NamedThing ligand-gated cation channel activity Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010690 biolink:NamedThing manual digit 1 epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013075 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl encephalopathy, acute, infection-induced, susceptibility to, 2|IIAE2|Herpes simplex encephalitis, susceptibility to, type 2|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2|herpes simplex encephalitis, susceptibility to, 2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2 Orphanet:1930|OMIM:613002 owl:Class CL:0000962 biolink:NamedThing Bm2 B cell A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells. tmpte7i6ely_mondo_relaxed.owl Bm2 B-lymphocyte|Bm2 B lymphocyte|Bm2 B-cell These cells are also CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. cell owl:Class UBERON:0004695 biolink:NamedThing arterial system smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903379 biolink:NamedThing regulation of mitotic chromosome condensation Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030524 biolink:NamedThing mucopolysaccharidosis, type 10 tmpte7i6ely_mondo_relaxed.owl MPS10 OMIM:619698 owl:Class MONDO:0019071 biolink:NamedThing pure hair and nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl hair-nail ectodermal dysplasia|HNED|PHNED Orphanet:69084|OMIM:614928|OMIM:614929|OMIM:602032|OMIM:614931|DOID:0111655 owl:Class MONDO:0034976 biolink:NamedThing iatrogenic Creutzfeldt-Jakob disease tmpte7i6ely_mondo_relaxed.owl Orphanet:576379 owl:Class MONDO:0043544 biolink:NamedThing nosocomial infection An infection acquired in a hospital or other healthcare setting. tmpte7i6ely_mondo_relaxed.owl Healthcare associated infection|hospital infection|hospital-acquired infection|associated infections, Healthcare|infection, Cross|HAI|associated infection, Healthcare|nosocomial infection|infections, Healthcare associated|nosocomial infectious disease|infections, nosocomial|infection, nosocomial|Healthcare associated infections|infection, Healthcare associated|Healthcare-associated infection|Cross infections|hospital-onset infection|health care associated infection|hospital infections|infections, hospital|infection, hospital|nosocomial infections|health care associated infections|infections, Cross UMLS:C0205721|EFO:1001299|MESH:D003428|SCTID:19168005|NCIT:C115164 owl:Class MONDO:0001076 biolink:NamedThing glucose intolerance The inability to regulate blood glucose levels resulting in hyperglycemia. tmpte7i6ely_mondo_relaxed.owl malabsorption of glucose|glucose: [intolerance] or [malabsorption]|glucose: malabsorption|glucose: intolerance DOID:10603|MESH:D018149|ICD10:R73.09|SCTID:267426009|ICD9:271.3|NCIT:C34646|UMLS:C0271650 owl:Class GO:2000871 biolink:NamedThing negative regulation of progesterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of progesterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0009121 biolink:NamedThing Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. tmpte7i6ely_mondo_relaxed.owl Abnormality of the axial skeleton UMLS:C4020785|UMLS:C4024586 peter 2008-04-05T11:16:00Z human_phenotype owl:Class GO:0048584 biolink:NamedThing positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpte7i6ely_mondo_relaxed.owl up regulation of response to stimulus|upregulation of response to stimulus|stimulation of response to stimulus|up-regulation of response to stimulus|activation of response to stimulus owl:Class MONDO:0001407 biolink:NamedThing tracheal cancer A malignant neoplasm involving the trachea tmpte7i6ely_mondo_relaxed.owl malignant tumor of trachea|malignant trachea tumor|malignant trachea neoplasm|malignant neoplasm of trachea|cancer of trachea|Ca trachea|malignant neoplasm of the trachea|malignant tumor of the trachea|malignant tracheal neoplasm|trachea cancer|malignant tracheal tumor|tracheal neoplasm ICD10:C33|UMLS:C0153489|SCTID:363432004|ICD9:162.0|DOID:11920|NCIT:C9346 owl:Class MONDO:0018052 biolink:NamedThing hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands. tmpte7i6ely_mondo_relaxed.owl Werner mesomelic syndrome DOID:0111564|UMLS:CN204341|Orphanet:3332|ICD10:Q74.8|OMIM:188740|SCTID:716741008 owl:Class UBERON:0003395 biolink:NamedThing mesentery of rectum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016013 biolink:NamedThing fetal methylmercury syndrome Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. tmpte7i6ely_mondo_relaxed.owl Methyl mercury antenatal infection|Minamata disease|Methyl mercury antenatal exposure MESH:D020262|GARD:0003575|ICD9:759.89|SCTID:62110005|ICD10:T56.1|Orphanet:1917 https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome owl:Class ECTO:0010002 biolink:NamedThing exposure to environmental process quality A exposure event involving the interaction of an exposure receptor to process quality. tmpte7i6ely_mondo_relaxed.owl process quality exposure owl:Class ECTO:0010000 biolink:NamedThing exposure to environmental quality A exposure event involving the interaction of an exposure receptor to quality. tmpte7i6ely_mondo_relaxed.owl quality exposure owl:Class MONDO:0008588 biolink:NamedThing hereditary geniospasm Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip. tmpte7i6ely_mondo_relaxed.owl hereditary chin tremor/myoclonus|hereditary chin myoclonus|GSM 1|trembling Chin|geniospasm 1|geniospasm|hereditary chin-trembling|GSM1|familial trembling of the chin MESH:C537682|ICD10:G25.3|Orphanet:53372|SCTID:718103001|GARD:0009501|UMLS:C2931589|OMIM:190100 https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm owl:Class MONDO:0000908 biolink:NamedThing arrhythmogenic right ventricular dysplasia 13 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy 13|arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|familial arrhythmogenic right ventricular dysplasia 13|ARVC13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy|ARVD13|arrhythmogenic right ventricular dysplasia type 13|arrhythmogenic right ventricular dysplasia, familial, 13|arrhythmogenic right ventricular dysplasia, familial, type 13 Orphanet:217656|ICD10:I42.8|UMLS:C3810138|OMIM:615616|DOID:0110084 owl:Class SO:0001784 biolink:NamedThing complex_structural_alteration A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints. tmpte7i6ely_mondo_relaxed.owl complex|complex_chromosomal_mutation|complex chromosomal mutation owl:Class HGNC:8522 biolink:NamedThing OTX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032909 biolink:NamedThing mitochondrial complex 3 deficiency, nuclear type 10 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10|MC3DN10 OMIM:618775 owl:Class CL:2000016 biolink:NamedThing lung microvascular endothelial cell Any lung endothelial cell that is part of a microvascular endothelium. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T16:00:56Z cell owl:Class MONDO:0012090 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 47 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 47|DFNA47|autosomal dominant nonsyndromic deafness 47|deafness, autosomal dominant 47|autosomal dominant deafness 47 DOID:0110570|UMLS:C1837609|OMIM:608652|ICD10:H90.3|Orphanet:90635|MESH:C563885 owl:Class HGNC:4799 biolink:NamedThing HADH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011854 biolink:NamedThing secretory diarrhea, myopathy, and deafness tmpte7i6ely_mondo_relaxed.owl secretory diarrhea, myopathy, and deafness MESH:C564382|OMIM:607540|UMLS:C1843757 owl:Class MONDO:0032653 biolink:NamedThing cardiac-urogenital syndrome tmpte7i6ely_mondo_relaxed.owl CARDIAC-UROGENITAL SYNDROME|CUGS OMIM:618280 owl:Class MONDO:0003777 biolink:NamedThing renal pelvis urothelial papilloma A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. tmpte7i6ely_mondo_relaxed.owl renal pelvis urothelial papilloma DOID:6119|NCIT:C4528|UMLS:C1514844 owl:Class CL:0009024 biolink:NamedThing mesothelial cell of small intestine A mesothelial cell that is part of the small intestine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012035 biolink:NamedThing craniosynostosis-intracranial calcifications syndrome Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl craniosynostosis, calcification of basal ganglia, and facial dysmorphism|Longman-Tolmie syndrome UMLS:C1842058|Orphanet:52054|SCTID:720816004|OMIM:608432|MESH:C564241|ICD10:Q87.0 owl:Class MONDO:0044207 biolink:NamedThing specific granule deficiency 1 Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. tmpte7i6ely_mondo_relaxed.owl specific granule deficiency caused by mutation in CEBPE|SGD1|neutrophil lactoferrin deficiency|CEBPE specific granule deficiency|lactoferrin-deficient neutrophils|specific granule deficiency 1 UMLS:C0398593|Orphanet:169142|OMIM:245480 owl:Class MONDO:0009506 biolink:NamedThing specific granule deficiency tmpte7i6ely_mondo_relaxed.owl recurrent infection due to specific granule deficiency|lactoferrin-deficient neutrophils|specific granule deficiency|SGD|neutrophil lactoferrin deficiency|neutrophil-specific granule deficiency UMLS:C0398593|MESH:C562873|ICD10:D71|OMIMPS:245480|SCTID:234587000|Orphanet:169142|OMIM:617475|OMIM:245480|GARD:0010778 owl:Class MONDO:0010731 biolink:NamedThing Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. tmpte7i6ely_mondo_relaxed.owl Simpson-Golabi-Behmel syndrome|SDYS|Sgbs|DGSX|dysplasia gigantism syndrome, X-linked|X-linked dysplasia gigantism syndrome|SGBS|Golabi-Rosen syndrome|Sara Angers syndrome|SGB syndrome OMIM:300209|MESH:C537340|Orphanet:373|GARD:0007649|NCIT:C131002|ICD9:759.89|ICD10:Q87.3|SCTID:439143004 https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome owl:Class GO:1902850 biolink:NamedThing microtubule cytoskeleton organization involved in mitosis Any microtubule cytoskeleton organization that is involved in mitosis. tmpte7i6ely_mondo_relaxed.owl microtubule cytoskeleton organization and biogenesis involved in mitosis|microtubule cytoskeleton organisation involved in mitosis|microtubule dynamics involved in mitosis owl:Class MONDO:0001367 biolink:NamedThing chronic congestive splenomegaly Chronic form of congestive splenomegaly. tmpte7i6ely_mondo_relaxed.owl congestive splenomegaly, chronic ICD9:289.51|DOID:11787|ICD10:D73.2|UMLS:C0398661|SCTID:191382009 owl:Class MONDO:0006410 biolink:NamedThing simple endometrial hyperplasia A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent. tmpte7i6ely_mondo_relaxed.owl UMLS:C0456483|NCIT:C35463|SCTID:198324001|EFO:1000525|ICD9:621.31 owl:Class MONDO:0041161 biolink:NamedThing endometrial hyperplasia A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). tmpte7i6ely_mondo_relaxed.owl hyperplasia of endometrium|endometrial hyperplasia|hyperplasia of the endometrium SCTID:237072009|UMLS:C0014173|HP:0040298|DOID:0080365|NCIT:C3013 Editor note: cede to HPO owl:Class MONDO:0007446 biolink:NamedThing dermatosis papulosa nigra A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. tmpte7i6ely_mondo_relaxed.owl dermatosis papulosa nigra (morphologic abnormality)|dermatosis papulosa nigra DOID:4400|MESH:C562379|ICD10:L82|SCTID:254669003|Wikipedia:Dermatosis_papulosa_nigra|ICD9:709.8|OMIM:125600|NCIT:C2984|UMLS:C0011645|EFO:1000686 owl:Class CL:0000178 biolink:NamedThing Leydig cell A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. tmpte7i6ely_mondo_relaxed.owl interstitial cell|interstitial cell of Leydig CALOHA:TS-1150|FMA:72297|BTO:0000755|EMAPA:29655 Note that the Amphibian Anatomy Ontology (AA) has a class 'leydig cells' but this is unrelated cell owl:Class CL:0000177 biolink:NamedThing testosterone secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class UBERON:0005745 biolink:NamedThing optic foramen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007899 biolink:NamedThing lichen sclerosus et atrophicus A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. tmpte7i6ely_mondo_relaxed.owl lichen sclerosus et atrophicus|LSA|lichen sclerosis et atrophicus|lichen sclerosus|lichen SCLEROSUS ET ATROPHICUS|lichen sclerosis MESH:D018459|GARD:0006905|NCIT:C26817|SCTID:25674000|Orphanet:33409|ICD10:L90.0|UMLS:C0023652|OMIM:151590 owl:Class UBERON:0005221 biolink:NamedThing liver right lobe parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011085 biolink:NamedThing Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. tmpte7i6ely_mondo_relaxed.owl hereditary motor ABD sensory neuropathy Lom type|hereditary motor and sensory neuropathy, Lom type|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|HMSN Lom type|HMSN4D|Charcot-Marie-Tooth disease type 4D|NDRG1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy type 4D|NMSL|Charcot-Marie-Tooth neuropathy, type 4D|Charcot-Marie-Tooth disease, type 4D|HMSN, Lom type|HMSN-Lom|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|CMT4D|HMSNL SCTID:715798007|MESH:C535716|Orphanet:99950|DOID:0110186|GARD:0003973|ICD10:G60.0|UMLS:C1832334|OMIM:601455 https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d owl:Class UBERON:0011364 biolink:NamedThing cleidocephalicus muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003116 biolink:NamedThing pharyngeal arch 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100071 biolink:NamedThing cardiocutaneous syndrome Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. tmpte7i6ely_mondo_relaxed.owl 2019-01-18 17:28:41+00:00 owl:Class UBERON:0011980 biolink:NamedThing crurotarsal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009545 biolink:NamedThing macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance tmpte7i6ely_mondo_relaxed.owl Macroepiphyseal dysplasia, McAlister coe type|macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance|McAlister coe Whyte syndrome MESH:C537721|UMLS:C2931597|OMIM:248010|GARD:0000173 https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance owl:Class MONDO:0003684 biolink:NamedThing clear cell chondrosarcoma A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. tmpte7i6ely_mondo_relaxed.owl clear cell chondrosarcoma (morphologic abnormality)|clear cell chondrosarcoma NCIT:C6475|UMLS:C1266167|ICDO:9242/3|DOID:5867 owl:Class CL:0000295 biolink:NamedThing somatotropin secreting cell A peptide hormone secreting cell that produces growth hormone, somatotropin. tmpte7i6ely_mondo_relaxed.owl somatotrophin secreting cell|growth hormone secreting cell CL:0000471 cell owl:Class MONDO:0018098 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1E (DES) Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. tmpte7i6ely_mondo_relaxed.owl LGMD1E|limb-girdle muscular dystrophy type 1E ICD10:G71.0|GARD:0012529|DOID:0110305|UMLS:C3148763|Orphanet:34517 Terminology notes: See comments for LGMD1D owl:Class GO:0033605 biolink:NamedThing positive regulation of catecholamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. tmpte7i6ely_mondo_relaxed.owl up regulation of catecholamine secretion|up-regulation of catecholamine secretion|upregulation of catecholamine secretion|activation of catecholamine secretion|stimulation of catecholamine secretion owl:Class MONDO:0015628 biolink:NamedThing von Willebrand disease type 2A Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. tmpte7i6ely_mondo_relaxed.owl von Willebrand disease, type 2A UMLS:C1282968|Orphanet:166084|OMIM:613554|ICD10:D68.0|NCIT:C131686|SCTID:359714009 owl:Class MONDO:0013304 biolink:NamedThing von Willebrand disease 2 Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). tmpte7i6ely_mondo_relaxed.owl Von Willebrand disease, type 2N|Von Willebrand disease, type 2B|von Willebrand's disease type 2|von Willebrand disease type II|von Willebrand disease 2|VON WILLEBRAND disease, type 2|Von Willebrand disease, type 2|VWD type 2|VWD, type 2|von Willebrand disease type 2|von willebrand's disease 2|Von Willebrand disease, type 2M|VWD2|Von Willebrand disease, type 2A UMLS:C1264040|Orphanet:166093|OMIM:613554|ICD10:D68.0|Orphanet:166081|DOID:0060574|UMLS:C1282968|UMLS:C1282971|UMLS:C1282975|MESH:D056728|Orphanet:166087|Orphanet:166090|Orphanet:903|Orphanet:166084|UMLS:C1282974|SCTID:128107007 owl:Class MONDO:0013501 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in VCP|amyotrophic lateral sclerosis, with or without frontotemporal dementia|VCP amyotrophic lateral sclerosis Orphanet:803|Orphanet:275872|DOID:0060205|UMLS:C3151403|OMIM:613954 owl:Class MONDO:0007925 biolink:NamedThing chromosome 5q deletion syndrome A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|chromosome 5q deletion syndrome|5q- syndrome, refractory macrocytic anemia due to 5q deletion|5Q- syndrome|myelodysplastic syndrome with isolated del(5q)|5q- syndrome|MAR|5Q minus syndrome|5q syndrome|myelodysplastic syndrome with 5q deletion|refractory macrocytic anemia due to 5q deletion|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|macrocytic Anemia, refractory, due to 5Q deletion|5q deletion syndrome|megakaryocytes, unilobular nucleated DOID:0090016|NCIT:C6867|GARD:0008723|SCTID:277597005|Orphanet:86841|ICD10:D46.7|MESH:C535323|UMLS:CN206233|OMIM:153550|ICDO:9986/3 owl:Class GO:0051782 biolink:NamedThing negative regulation of cell division Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. tmpte7i6ely_mondo_relaxed.owl downregulation of cell division|inhibition of cell division|down-regulation of cell division|down regulation of cell division owl:Class MONDO:0022831 biolink:NamedThing congenital heart disease ptosis hypodontia craniostosis tmpte7i6ely_mondo_relaxed.owl GARD:0001483 https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis owl:Class MONDO:0004222 biolink:NamedThing ovarian clear cell cystadenocarcinoma A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures. tmpte7i6ely_mondo_relaxed.owl ovarian clear cell cystadenocarcinoma NCIT:C7980|UMLS:C0279667|DOID:7438 owl:Class MONDO:0018666 biolink:NamedThing hepatoblastoma Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy. tmpte7i6ely_mondo_relaxed.owl pediatric embryonal hepatoma|HBL|hepatoblastoma|hepatoblastoma, malignant|pediatric hepatoblastoma Orphanet:449|ONCOTREE:LIHB|MedDRA:10062001|NCIT:C3728|DOID:687|ICDO:8970/3|OMIM:114550|EFO:1000292|GARD:0002657|MESH:D018197|ICD10:C22.2|UMLS:C0206624 owl:Class MONDO:0005861 biolink:NamedThing multidrug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs. tmpte7i6ely_mondo_relaxed.owl multidrug-resistant TB|MDR-TB SCTID:423092005|UMLS:C0206526|DOID:401|EFO:0007381|MESH:D018088|NCIT:C128415 owl:Class UBERON:0013151 biolink:NamedThing choroidal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010414 biolink:NamedThing omental fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010411 biolink:NamedThing retroperitoneal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006276 biolink:NamedThing lung inflammatory myofibroblastic tumor An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpte7i6ely_mondo_relaxed.owl lung inflammatory myofibroblastic tumor|inflammatory myofibroblastic lung tumor EFO:1000333|NCIT:C39740|ONCOTREE:IMTL|UMLS:C1518038|ICDO:8827/1 owl:Class GO:1905155 biolink:NamedThing positive regulation of membrane invagination Any process that activates or increases the frequency, rate or extent of membrane invagination. tmpte7i6ely_mondo_relaxed.owl up regulation of membrane invagination|activation of membrane invagination|upregulation of membrane invagination|up-regulation of membrane invagination owl:Class GO:0032042 biolink:NamedThing mitochondrial DNA metabolic process The chemical reactions and pathways involving mitochondrial DNA. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA metabolism|mtDNA metabolism|mtDNA metabolic process owl:Class GO:0006259 biolink:NamedThing DNA metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. tmpte7i6ely_mondo_relaxed.owl DNA metabolism|cellular DNA metabolism owl:Class NCBITaxon:138 biolink:NamedThing Borrelia tmpte7i6ely_mondo_relaxed.owl Relapsing Fever Borrelia PMID:31454394|PMID:8863409|PMID:24744012|PMID:31722850|PMID:30586413|PMID:8863416|PMID:30154058|PMID:27930271|PMID:31836459|PMID:32320380|PMID:28141502|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1643685 biolink:NamedThing Borreliaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:23908650 ncbi_taxonomy owl:Class GO:2000609 biolink:NamedThing regulation of thyroid hormone generation Any process that modulates the frequency, rate or extent of thyroid hormone generation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032350 biolink:NamedThing regulation of hormone metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpte7i6ely_mondo_relaxed.owl regulation of hormone metabolism owl:Class CL:0009004 biolink:NamedThing retinal cell Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpte7i6ely_mondo_relaxed.owl PMID:10702418 cell owl:Class MONDO:0003831 biolink:NamedThing type 2 papillary adenoma of the kidney tmpte7i6ely_mondo_relaxed.owl type 2 renal papillary adenoma|type 2 papillary adenoma of the kidney NCIT:C39810|DOID:6259|UMLS:C1519710 owl:Class UBERON:0012069 biolink:NamedThing epithelium-associated lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:91347 biolink:NamedThing Enterobacterales tmpte7i6ely_mondo_relaxed.owl Enterobacteriales|gamma-3 proteobacteria|Enterobacteriaceae and related endosymbionts|Enterobacteriaceae group PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011436 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 1 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. tmpte7i6ely_mondo_relaxed.owl HMN 6|severe infantile axonal neuropathy with respiratory failure type 1|autosomal recessive distal spinal muscular atrophy 1|SMARD1|distal-HMN type 6|neuronopathy, distal hereditary motor, type 6|neuronopathy, distal hereditary motor, type VI|diaphragmatic spinal muscular atrophy|dSMA1|spinal muscular atrophy with respiratory distress 1|spinal muscular atrophy, distal, autosomal recessive, 1|autosomal recessive distal spinal muscular atrophy type 1|IGHMBP2 spinal muscular atrophy|neuronopathy, Severe infantile axonal, with respiratory failure|dHMN6|distal hereditary motor neuropathy type 6|autosomal recessive spinal muscular atrophy with respiratory distress|Hmn6|spinal muscular atrophy, diaphragmatic|HMN VI|spinal muscular atrophy caused by mutation in IGHMBP2|DSMA1|spinal muscular atrophy with respiratory distress type 1|spinal muscular atrophy, distal, autosomal recessive, type 1|severe infantile axonal neuropathy with respiratory failure|SIANRF ICD10:G12.2|OMIM:604320|MESH:C536880|SCTID:711483003|DOID:0111064|ICD9:335.19|UMLS:C1858517|GARD:0008592|Orphanet:98920 owl:Class HP:0002619 biolink:NamedThing Varicose veins Enlarged and tortuous veins. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:12856003|MSH:D014648|SNOMEDCT_US:399989005|UMLS:C0042345|SNOMEDCT_US:128060009 human_phenotype owl:Class HP:0005293 biolink:NamedThing Venous insufficiency tmpte7i6ely_mondo_relaxed.owl Poorly functioning veins MSH:D014689|UMLS:C0042485|SNOMEDCT_US:20696009 human_phenotype owl:Class GO:0071407 biolink:NamedThing cellular response to organic cyclic compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpte7i6ely_mondo_relaxed.owl cellular response to organic cyclic substance owl:Class MONDO:0002883 biolink:NamedThing intestinal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpte7i6ely_mondo_relaxed.owl intestinal neuroendocrine neoplasm|intestine neuroendocrine neoplasm|intestine neuroendocrine tumor|neuroendocrine neoplasm of intestine|intestinal neuroendocrine benign tumor|intestine NET|neuroendocrine neoplasm of the intestine|intestine neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine tumor of intestine UMLS:C1334231|NCIT:C5695|DOID:4119 owl:Class CL:0002028 biolink:NamedThing basophil mast progenitor cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa tmpte7i6ely_mondo_relaxed.owl BMCP There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. tmeehan 2010-04-27T12:46:33Z cell owl:Class GO:0045926 biolink:NamedThing negative regulation of growth Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpte7i6ely_mondo_relaxed.owl down-regulation of growth|down regulation of growth|downregulation of growth|inhibition of growth owl:Class MONDO:0011569 biolink:NamedThing Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2B1|AR-CMT2B1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|autosomal recessive Charcot-Marie-Tooth disease type 2B1|LMNA Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|Charcot Marie Tooth disease type 2B1|CMT2B1|autosomal recessive axonal CMT4C1|Charcot-Marie-Tooth neuropathy, type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1|Charcot-Marie-Tooth disease neuronal type 2B1|CMT 2B1 DOID:0110156|GARD:0008548|Orphanet:98856|UMLS:C1854154|ICD10:G60.0|MESH:C537990|OMIM:605588|SCTID:725048002 https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1 owl:Class MONDO:0600001 biolink:NamedThing glutaminase deficiency Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene. tmpte7i6ely_mondo_relaxed.owl glutaminase deficiency http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0017352 biolink:NamedThing disorder of glutamine metabolism tmpte7i6ely_mondo_relaxed.owl SCTID:190724004|Orphanet:289841|ICD9:270.7|ICD10:E72.8|UMLS:C0342669 owl:Class HGNC:26661 biolink:NamedThing RNF168 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007059 biolink:NamedThing chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpte7i6ely_mondo_relaxed.owl chromosome division|chromosome transmission owl:Class MONDO:0007225 biolink:NamedThing fibular aplasia-ectrodactyly syndrome Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. tmpte7i6ely_mondo_relaxed.owl brachydactyly-ectrodactyly with fibular aplasia or hypoplasia|fibular aplasia ectrodactyly Orphanet:1118|ICD10:Q73.8|GARD:0002331|OMIM:113310|UMLS:C1862100|MESH:C537930 owl:Class MONDO:0012449 biolink:NamedThing spinocerebellar ataxia type 23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. tmpte7i6ely_mondo_relaxed.owl SCA23|spinocerebellar ataxia type 23|spinocerebellar ataxia 23 UMLS:C1853250|OMIM:610245|Orphanet:101108|DOID:0050973|SCTID:718772002|GARD:0009950|UMLS:C4305146|ICD10:G11.2|MESH:C537201 owl:Class MONDO:0021009 biolink:NamedThing salivary gland mucoepidermoid carcinoma A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. tmpte7i6ely_mondo_relaxed.owl saliva-secreting gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the salivary gland|salivary gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of salivary gland SCTID:423708008|UMLS:C1335903|NCIT:C5908 owl:Class HGNC:7427 biolink:NamedThing MT-CYB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904000 biolink:NamedThing positive regulation of eating behavior Any process that activates or increases the frequency, rate or extent of eating behavior. tmpte7i6ely_mondo_relaxed.owl upregulation of eating behaviour|up regulation of eating behavior|activation of eating behavior|up-regulation of eating behaviour|upregulation of eating behavior|up regulation of eating behaviour|up-regulation of eating behavior|positive regulation of eating behaviour|activation of eating behaviour owl:Class MONDO:0025263 biolink:NamedThing strongyle infections, equine Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. tmpte7i6ely_mondo_relaxed.owl Strongyloses, equine|equine strongyle infection|equine Strongylosis|equine strongyle infections|equine Strongyloses|Strongylosis, equine|strongyle infection, equine|infection, equine strongyle|infections, equine strongyle UMLS:C0038459|MESH:D013319 owl:Class GO:0016248 biolink:NamedThing channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a channel. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016247 biolink:NamedThing channel regulator activity Bonds to and modulates the activity of a channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005488 biolink:NamedThing binding The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. tmpte7i6ely_mondo_relaxed.owl ligand owl:Class GO:1903284 biolink:NamedThing positive regulation of glutathione peroxidase activity Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of non-selenium glutathione peroxidase activity|upregulation of GSH peroxidase activity|up-regulation of glutathione peroxidase activity|up-regulation of non-selenium glutathione peroxidase activity|up-regulation of GSH peroxidase activity|up-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|activation of glutathione:hydrogen-peroxide oxidoreductase activity|positive regulation of reduced glutathione peroxidase activity|up regulation of reduced glutathione peroxidase activity|up regulation of GSH peroxidase activity|upregulation of non-selenium glutathione peroxidase activity|activation of GSH peroxidase activity|activation of selenium-glutathione peroxidase activity|up regulation of glutathione:hydrogen-peroxide oxidoreductase activity|upregulation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of selenium-glutathione peroxidase activity|positive regulation of GSH peroxidase activity|up regulation of non-selenium glutathione peroxidase activity|upregulation of selenium-glutathione peroxidase activity|enhancement of GPX activity|upregulation of reduced glutathione peroxidase activity|positive regulation of glutathione:hydrogen-peroxide oxidoreductase activity|positive regulation of selenium-glutathione peroxidase activity|up-regulation of selenium-glutathione peroxidase activity|activation of glutathione peroxidase activity|activation of reduced glutathione peroxidase activity|up-regulation of reduced glutathione peroxidase activity|activation of non-selenium glutathione peroxidase activity|upregulation of glutathione peroxidase activity|up regulation of glutathione peroxidase activity owl:Class HGNC:6062 biolink:NamedThing ING1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000888 biolink:NamedThing gastrointestinal mucositis Inflammation of the mucous membranes lining the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl gastrointestinal system mucosaitis|gastrointestinal system mucosa inflammation|inflammation of gastrointestinal system mucosa|mucositis UMLS:C0521585|MESH:D052016|SCTID:95518006|ICD9:558.9|NCIT:C3853|DOID:0080178|ICD9:538 owl:Class UBERON:0010046 biolink:NamedThing entire pharyngeal arch associated mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011773 biolink:NamedThing upper jaw opening tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012199 biolink:NamedThing posterior polymorphous corneal dystrophy 2 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. tmpte7i6ely_mondo_relaxed.owl posterior polymorphous corneal dystrophy type 2|corneal dystrophy, POSTERIOR polymorphous, 2|PPCD2|Ppcd2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2|corneal dystrophy, posterior polymorphous, type 2|COL8A2 posterior polymorphous corneal dystrophy UMLS:C1852795|DOID:0110856|OMIM:609140|ICD10:H18.50|MESH:C565176|Orphanet:98973 owl:Class MONDO:0020364 biolink:NamedThing posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. tmpte7i6ely_mondo_relaxed.owl PPCD|Schlichting dystrophy|hereditary polymorphus posterior corneal dystrophy|posterior polymorphous dystrophy|corneal dystrophy, posterior polymorphous Orphanet:98973|DOID:0060457|OMIMPS:122000|UMLS:CN239252|ICD10:H18.5|OMIM:609140|OMIM:122000|OMIM:609141 owl:Class MONDO:0010974 biolink:NamedThing nephrotic syndrome, type 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 2|nephrotic syndrome, steroid-resistant, autosomal recessive|nephrotic syndrome caused by mutation in NPHS2|nephrotic syndrome, idiopathic, steroid-resistant|SRN1|NPHS2 nephrotic syndrome|NPHS2 OMIM:600995|UMLS:C1868672|DOID:0080379|GARD:0003946 owl:Class MONDO:0000951 biolink:NamedThing thymus lymphoma A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl lymphoma of Thymus|thymus lymphoma|primary thymic lymphoma|thymic lymphoma|Thymus lymphoma|lymphoma of the Thymus|lymphoma of thymus NCIT:C6451|UMLS:C1336745|EFO:1000054|DOID:10146 owl:Class MONDO:0008733 biolink:NamedThing familial glucocorticoid deficiency Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. tmpte7i6ely_mondo_relaxed.owl glucocorticoid deficiency|GCCD Orphanet:361|OMIM:607398|OMIM:202200|MESH:C565974|OMIM:614736|OMIM:202355|GARD:0002498|UMLS:CN204661|ICD10:E27.1|DOID:0080620|OMIMPS:202200|SCTID:765326001|NCIT:C120446|OMIM:609197 https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency owl:Class MONDO:0012577 biolink:NamedThing asthma-related traits, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl asthma-related traits, susceptibility to, type 4|ASRT4|asthma-related traits, susceptibility to, 4|asthma and allergic rhinitis, susceptibility to OMIM:610906 owl:Class MONDO:0013230 biolink:NamedThing epilepsy, hot water, 2 tmpte7i6ely_mondo_relaxed.owl epilepsy, hot water, 2|HWE2 OMIM:613340|Orphanet:166412|UMLS:C3150536 owl:Class MONDO:0013229 biolink:NamedThing hot water reflex epilepsy Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. tmpte7i6ely_mondo_relaxed.owl hot water epilepsy|bathing epilepsy|water immersion epilepsy|epilepsy, hot water OMIM:613339|OMIM:613340|UMLS:CN200053|SCTID:230454005|UMLS:C0393729|ICD9:345.10|ICD10:G40.8|Orphanet:166412|OMIMPS:613339 Editor note: TODO add ECTO owl:Class MONDO:0015791 biolink:NamedThing peripheral precocious puberty Precocious puberty caused by sex hormones. tmpte7i6ely_mondo_relaxed.owl gonadotropin-independent precocious puberty|gonadotropin independent precocious puberty|precocious pseudopuberty|GIPP Orphanet:178040|ICD10:E30.1|SCTID:736606009 owl:Class MONDO:0011991 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 38 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27. tmpte7i6ely_mondo_relaxed.owl DFNB38|autosomal recessive nonsyndromic deafness type 38|autosomal recessive nonsyndromic deafness 38|autosomal recessive deafness 38|deafness, autosomal recessive 38 OMIM:608219|DOID:0110496|MESH:C564273|ICD10:H90.3|UMLS:C1842381 owl:Class MONDO:0022971 biolink:NamedThing diabetes persistent mullerian ducts tmpte7i6ely_mondo_relaxed.owl GARD:0001840 https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts owl:Class MONDO:0018900 biolink:NamedThing corticosteroid-sensitive aseptic abscess syndrome Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders. tmpte7i6ely_mondo_relaxed.owl aseptic systemic abscesses|aseptic abscesses syndrome|disseminated aseptic abscesses|corticosteroid-sensitive aseptic abscesses SCTID:720751000|Orphanet:54251|UMLS:CN205271|GARD:0010946 owl:Class MONDO:0004215 biolink:NamedThing cutaneous anthrax An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center. tmpte7i6ely_mondo_relaxed.owl anthrax, skin type|skin anthrax UMLS:C0003177|ICD10:A22.0|SCTID:84980006|DOID:7426|GARD:0008158|MESH:C531621|ICD9:022.0 https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax owl:Class MONDO:0005119 biolink:NamedThing anthrax infection An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. tmpte7i6ely_mondo_relaxed.owl Bacillus anthracis disease or disorder|anthrax|Bacillus anthracis infectious disease|Bacillus anthracis caused disease or disorder|anthrax disease ICD9:022.9|ICD9:022.8|ICD10:A22.9|GARD:0008157|ICD10:A22|UMLS:C0003175|NCIT:C84565|ICD9:022|MESH:D000881|SCTID:409498004|EFO:0000778|DOID:7427 Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax owl:Class MONDO:0001508 biolink:NamedThing patulous eustachian tube A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. tmpte7i6ely_mondo_relaxed.owl ICD10:H69.00|GARD:0010812|ICD10:H69.0|UMLS:C0155434|SCTID:30280005|ICD9:381.7|DOID:12358 owl:Class MONDO:0032791 biolink:NamedThing Coffin-Siris syndrome 10 tmpte7i6ely_mondo_relaxed.owl COFFIN-SIRIS SYNDROME 10|CSS10 OMIM:618506 owl:Class MONDO:0007121 biolink:NamedThing aniridia, microcornea, and spontaneously Reabsorbed cataract tmpte7i6ely_mondo_relaxed.owl aniridia, microcornea, and spontaneously Reabsorbed cataract UMLS:C1862867|MESH:C566280|OMIM:106230 owl:Class MONDO:0009212 biolink:NamedThing congenital factor X deficiency Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. tmpte7i6ely_mondo_relaxed.owl factor 10 deficiency|hereditary Factor X deficiency|Stuart factor deficiency, congenital|congenital Stuart factor deficiency|Stuart-Prower Factor deficiency|disease, Stuart-Prower|congenital factor X deficiency|factor X deficiency|factor X deficiency, congenital|Stuart-Prower factor deficiency|F10 deficiency GARD:0006404|MESH:D005171|OMIM:227600|NCIT:C98940|DOID:2222|SCTID:37350004|ICD9:286.3|ICD10:D68.2|Orphanet:328 owl:Class MONDO:0017697 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form tmpte7i6ely_mondo_relaxed.owl GSD type 4, fatal perinatal neuromuscular form|GSDIV, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form|glycogen storage disease type IV, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form|glycogenosis type IV, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form OMIM:232500|ICD10:E74.0|UMLS:C1856303|Orphanet:308655 owl:Class CHEBI:49104 biolink:NamedThing heteroarenecarbaldehyde An aldehyde in which a formyl group is located on a heteroarene. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014572 biolink:NamedThing Lichtenstein-Knorr syndrome tmpte7i6ely_mondo_relaxed.owl SCAR19|Lichtenstein-Knorr syndrome|spinocerebellar ataxia, autosomal recessive 19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|autosomal recessive spinocerebellar ataxia 19|autosomal recessive spinocerebellar ataxia type 19|progressive autosomal recessive ataxia-deafness syndrome|LIKNS UMLS:C4225383|DOID:0080065|ICD10:G11.1|OMIM:616291|Orphanet:448251 owl:Class MONDO:0015347 biolink:NamedThing multicentric reticulohistiocytosis Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. tmpte7i6ely_mondo_relaxed.owl lipoid dermatoarthritis|multicentric reticulohistiocytosis|giant cell histiocytomatosis UMLS:C0311284|ICD10:E78.81|ICD10:D76.3|NCIT:C27896|GARD:0007103|ICD9:272.8|SCTID:84241008|Orphanet:139436|ICD9:713.0|MedDRA:10070595|DOID:11824 https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis owl:Class MONDO:0012853 biolink:NamedThing Fontaine progeroid syndrome A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. tmpte7i6ely_mondo_relaxed.owl Petty syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|Gorlin-Chaudhry-Moss syndrome|Gorlin Chaudhry Moss syndrome|Petty-Laxova-Wiedemann syndrome|progeroid syndrome, Petty type|FPS|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|Fontaine progeroid syndrome|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|progeroid syndrome congenital Petty type|progeroid syndrome, congenital, Petty type|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|progeroid syndrome Petty type|GCMS|GCM syndrome|Petty Laxova Wiedemann syndrome Orphanet:2095|SCTID:205800003|OMIM:233500|ICD10:E34.8|GARD:0000066|ICD10:Q87.0|OMIM:612289|MESH:C537290|GARD:0004497|ICD9:759.89|UMLS:C2931653 https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type owl:Class MONDO:0002670 biolink:NamedThing ampulla of vater adenocarcinoma A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla tmpte7i6ely_mondo_relaxed.owl hepatopancreatic ampulla adenocarcinoma|ampullary adenocarcinoma|ampulla of Vater adenocarcinoma|adenocarcinoma of ampulla of vater|adenocarcinoma of ampulla of Vater|invasive adenocarcinoma of the ampullary region UMLS:C1332243|DOID:3502|EFO:0008490|NCIT:C6650 owl:Class HGNC:6556 biolink:NamedThing LETM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008056 biolink:NamedThing myotonic dystrophy type 1 Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness. tmpte7i6ely_mondo_relaxed.owl Steinert disease|dystrophia myotonica type 1|Steinert syndrome|myotonic dystrophy caused by mutation in DMPK|Steinert myotonic dystrophy syndrome|dystrophia myotonica 1|myotonic dystrophy type 1|dystrophia myotonica|myotonic dystrophy 1|DM1|Steinert myotonic dystrophy|DMPK myotonic dystrophy|myotonic dystrophy of Steinert|Steinert's disease|MD1 MESH:D009223|GARD:0008310|UMLS:C0027126|ICD10:G71.11|OMIM:160900|ICD10:G71.1|ICD9:359.21|NCIT:C84679|Orphanet:273|NCIT:C84914|DOID:11722 owl:Class CL:0000210 biolink:NamedThing photoreceptor cell A cell specialized to detect and transduce light. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0868|FBbt:00004211|BTO:0001060|FMA:86740 cell owl:Class HGNC:6814 biolink:NamedThing MAGEL2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2468 biolink:NamedThing SMC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001166 biolink:NamedThing nephritis Inflammation of renal tissue. tmpte7i6ely_mondo_relaxed.owl kidney inflammation|inflammation of kidney ICD9:583.7|DOID:10952|ICD10:N08|SCTID:52845002|MESH:D009393|ICD9:583.89|ICD9:583.9|ICD10:N05|NCIT:C26833|UMLS:C0027697 owl:Class MONDO:0006634 biolink:NamedThing pituitary gland acidophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. tmpte7i6ely_mondo_relaxed.owl pituitary gland acidophil adenoma|eosinophil adenoma|acidophil adenoma UMLS:C0001433|DOID:5392|ICDO:8280/0|EFO:1000791|NCIT:C6780|MESH:D000239 owl:Class MONDO:0006801 biolink:NamedThing ileal neoplasm A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma. tmpte7i6ely_mondo_relaxed.owl tumor of the ileum|ileum tumor|ileum neoplasm (disease)|ileal tumor|ileum neoplasm|neoplasm of ileum|tumor of ileum|neoplasm of the ileum EFO:1000981|NCIT:C3130|UMLS:C0020876|SCTID:126835002|DOID:10156|MESH:D007078 MONDO:0021376 owl:Class UBERON:0004189 biolink:NamedThing glomerular endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013898 biolink:NamedThing karyomegalic interstitial nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. tmpte7i6ely_mondo_relaxed.owl KMIN|interstitial nephritis caused by mutation in FAN1|interstitial nephritis, karyomegalic|karyomegalic interstitial nephritis|FAN1 interstitial nephritis|systemic karyomegaly|kin ICD10:N11.8|GARD:0011003|Orphanet:401996|UMLS:C3553774|DOID:0060911|OMIM:614817 https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis owl:Class MONDO:0025082 biolink:NamedThing helminthiasis, animal Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. tmpte7i6ely_mondo_relaxed.owl animal Helminthiases|animal helminthiasis|Helminthiases, animal MESH:D006374|UMLS:C0018891 owl:Class MONDO:0008023 biolink:NamedThing muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus|muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus|Furukawa-Takagi-Nakao syndrome OMIM:158500|SCTID:237611007|ICD9:728.2|GARD:0002417|Orphanet:2579 https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus owl:Class MONDO:0021383 biolink:NamedThing neoplasm of floor of mouth A neoplasm (disease) that involves the mouth floor. tmpte7i6ely_mondo_relaxed.owl floor of the mouth neoplasm|tumor of the floor of the mouth|mouth floor neoplasm|floor of the mouth tumor|floor of mouth tumor|mouth floor neoplasm (disease)|tumor of mouth floor|floor of mouth neoplasm|neoplasm of mouth floor|tumor of floor of mouth|neoplasm of the floor of the mouth|mouth floor tumor UMLS:C0345538|NCIT:C4401|SCTID:126799003 owl:Class MONDO:0030019 biolink:NamedThing anauxetic dysplasia 3 tmpte7i6ely_mondo_relaxed.owl anauxetic dysplasia 3|ANAUXETIC DYSPLASIA 3|ANXD3 OMIM:618853 owl:Class MONDO:0021838 biolink:NamedThing Al Gazali Khidr Prem Chandran syndrome A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl cherubism, optic atrophy and short stature MESH:C535616|GARD:0000586|UMLS:C2930951 https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome owl:Class MONDO:0013935 biolink:NamedThing Usher syndrome type 1J Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene. tmpte7i6ely_mondo_relaxed.owl Usher syndrome caused by mutation in CIB2|USH1J|Usher syndrome type Ij|USHER syndrome, type Ij|CIB2 Usher syndrome|Usher syndrome, type 1J OMIM:614869|UMLS:C3553944|Orphanet:231169|Orphanet:886|ICD10:H35.5|DOID:0110836 owl:Class MONDO:0010168 biolink:NamedThing Usher syndrome type 1 A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. tmpte7i6ely_mondo_relaxed.owl USH1|Usher syndrome, type Ia, formerly|retinitis pigmentosa and congenital deafness|US1|Usher syndrome type 1|Usher syndrome, type I, French variety|Usher syndrome, type Ia|Usher syndrome, type 1B|USH1A|Usher syndrome, type I, French variety, formerly|Usher syndrome, type 1|Usher syndrome, type 1A|USHER syndrome, type I GARD:0005435|OMIM:602083|OMIM:614869|OMIM:276900|GARD:0005436|DOID:0110826|OMIM:606943|OMIM:602097|OMIM:614990|NCIT:C126327|OMIM:612632|OMIM:601067|Orphanet:886|Orphanet:231169|ICD10:H35.5|OMIM:276904|SCTID:232057003 owl:Class MONDO:0006209 biolink:NamedThing fibroblastic neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. tmpte7i6ely_mondo_relaxed.owl fibrous tumor|fibrocytic neoplasm|fibrogenicTumor|fibrocytic tumor|fibrous neoplasm|fibrogenic neoplasm|fibroblastic neoplasm|fibroblastic tumor EFO:1000255|NCIT:C7075 owl:Class MONDO:0020174 biolink:NamedThing precancerous lesion of palpebral epidermis A precancerous condition that involves the skin of eyelid. tmpte7i6ely_mondo_relaxed.owl skin of eyelid precancerous condition Orphanet:98583 owl:Class HP:0000572 biolink:NamedThing Visual loss Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). tmpte7i6ely_mondo_relaxed.owl Visual loss|Vision loss|Loss of vision SNOMEDCT_US:7973008|UMLS:C3665386 human_phenotype owl:Class HP:0000505 biolink:NamedThing Visual impairment Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. tmpte7i6ely_mondo_relaxed.owl Poor vision|Impaired vision|Loss of eyesight|Visual impairment SNOMEDCT_US:7973008|SNOMEDCT_US:246635007|MSH:D014786|MSH:D015354|UMLS:C3665347|SNOMEDCT_US:397540003|UMLS:C0042798 HP:0000566|HP:0007860|HP:0007758|HP:0000516|HP:0007983 human_phenotype owl:Class MONDO:0008277 biolink:NamedThing stomach polyp A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). tmpte7i6ely_mondo_relaxed.owl gastric polyp|polyps of the stomach|gastric polyposa|gastric polyposis|polyps of stomach MESH:C562464|SCTID:87252009|NCIT:C3954 Editor note: consider splitting polyposis from polyp owl:Class MONDO:0016202 biolink:NamedThing autosomal dominant rhegmatogenous retinal detachment Autosomal dominant form of rhegmatogenous retinal detachment. tmpte7i6ely_mondo_relaxed.owl rhegmatogenous retinal detachment, autosomal dominant OMIM:609508|Orphanet:209867|UMLS:C1836081|ICD10:H33.0 owl:Class NCIT:C36104 biolink:NamedThing Aggressive Clinical Course tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18085 biolink:NamedThing TMEM199 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025494 biolink:NamedThing porcine reproductive and respiratory syndrome A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048) tmpte7i6ely_mondo_relaxed.owl pig disease, blue-eared|PRRS|blue eared pig disease|mystery swine disease|swine disease, mystery|porcine epidemic abortion and respiratory syndrome|swine infertility and respiratory syndrome|blue-eared pig disease MESH:D019318|UMLS:C0376538 owl:Class MONDO:0003666 biolink:NamedThing fallopian tube endometrioid adenocarcinoma An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis. tmpte7i6ely_mondo_relaxed.owl fallopian tube endometrioid carcinoma|endometrioid adenocarcinoma of the fallopian tube|fallopian tube endometrioid neoplasm|endometrioid carcinoma of the fallopian tube|fallopian tube endometrioid cancer|endometrioid adenocarcinoma of fallopian tube|endometrioid carcinoma of fallopian tube|fallopian tube endometrioid adenocarcinoma NCIT:C6279|DOID:5831|UMLS:C1333592 owl:Class MONDO:0005026 biolink:NamedThing endometrioid adenocarcinoma An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. tmpte7i6ely_mondo_relaxed.owl endometrioid adenocarcinoma|endometrioid carcinoma of female reproductive system|endometrioid carcinoma of the female reproductive system|endometrioid carcinoma|female reproductive endometrioid carcinoma UMLS:C1569637|EFO:0000466|NCIT:C3769|ICDO:8380/3|UMLS:C0206687 owl:Class MONDO:0003136 biolink:NamedThing anti-basement membrane glomerulonephritis Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. tmpte7i6ely_mondo_relaxed.owl anti-GBM antibody disease|anti-glomerular basement Membrane antibody disease UMLS:C1332309|NCIT:C35798|DOID:4780 owl:Class MONDO:0005053 biolink:NamedThing ischemic disease Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation. tmpte7i6ely_mondo_relaxed.owl ischemia DOID:326|SCTID:52674009|MESH:D007511|NCIT:C34738|EFO:0000556 Editor note: represented as a finding in other ontologies owl:Class MONDO:0012769 biolink:NamedThing prostate cancer, hereditary, 14 tmpte7i6ely_mondo_relaxed.owl HPC14|prostate cancer, hereditary, 14 UMLS:C2677772|MESH:C567448|OMIM:611958|Orphanet:1331 owl:Class MONDO:0010578 biolink:NamedThing deafness dystonia syndrome Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. tmpte7i6ely_mondo_relaxed.owl deafness - dystonia - optic neuronopathy syndrome|deafness-Dystonia-optic atrophy syndrome|dystonia deafness syndrome|dystonia-deafness syndrome|deafness dystonia syndrome|MTS|deafness dystonia optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|deafness dystonia optic neuronopathy syndrome (DDON)|MOHR-Tranebjaerg syndrome|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic neuronopathy (DDON) syndrome|Mohr-Tranebjaerg syndrome|DDP|DDON syndrome|deafness dystonia optic neuronopathy syndrome ICD9:759.89|UMLS:C0796074|Orphanet:52368|ICD10:G31.8|SCTID:702423009|OMIM:304700|GARD:0008331|DOID:0050757|MESH:C535808 owl:Class MONDO:0014317 biolink:NamedThing pancytopenia-developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl bone marrow failure syndrome 2|bone marrow failure syndrome type 2|pancytopenia-developmental delay syndrome|Trilineage bone marrow failure-developmental delay syndrome|BMFS2 ICD10:D61.0|Orphanet:401764|OMIM:615715|UMLS:C3810350 owl:Class MONDO:0002563 biolink:NamedThing jejunal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures. tmpte7i6ely_mondo_relaxed.owl Somatosatinoma of jejunum|jejunal somatostatin producing tumor|Delta cell tumor of jejunum|jejunal somatostatin-producing NET|Somatosatinoma of the jejunum|jejunal delta cell somatostatin producing tumor|jejunal somatostatin-producing neuroendocrine tumor|Delta cell tumor of the jejunum NCIT:C5787|UMLS:C1334297|DOID:3216 owl:Class UBERON:0006255 biolink:NamedThing ischial pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019528 biolink:NamedThing IgG4-related hepatopathy Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion. tmpte7i6ely_mondo_relaxed.owl inflammatory pseudotumor of the liver Orphanet:90003|ICD10:K75.8 owl:Class MONDO:0033565 biolink:NamedThing oocyte maturation defect 9 tmpte7i6ely_mondo_relaxed.owl OOCYTE MATURATION DEFECT 9|OOMD9 OMIM:619011 owl:Class MONDO:0016101 biolink:NamedThing neurolymphomatosis A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. tmpte7i6ely_mondo_relaxed.owl Marek's disease|fowl paralyses|Marek disease|fowl paralysis Orphanet:206586|GARD:0006974|MESH:D008380|SCTID:766752000|UMLS:C0024793 owl:Class UBERON:0019261 biolink:NamedThing white matter of forebrain tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012823 biolink:NamedThing Clinical modifier This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. tmpte7i6ely_mondo_relaxed.owl Phenotypic modifier UMLS:C4021064 Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. peter 2014-06-06T06:34:24Z HP:0000004 human_phenotype owl:Class NCBITaxon:135623 biolink:NamedThing Vibrionales tmpte7i6ely_mondo_relaxed.owl 'Vibrionales'|Vibrionaceae group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009180 biolink:NamedThing junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa, generalized atrophic benign|JEB-I|epidermolysis bullosa Junctionalis, Disentis type|JEN-nH|junctional epidermolysis bullosa inversa|epidermolysis bullosa, junctional, non-Herlitz type|epidermolysis bullosa, junctional, Localisata variant|epidermolysis bullosa Junctionalis, progressive|JEB-nH|epidermolysis bullosa Junctionalis, severe Nonlethal|epidermolysis bullosa Junctionalis, non-Herlitz type Orphanet:79405|Orphanet:89840|Orphanet:79402|SCTID:33662006|ICD9:757.39|UMLS:C2673610|OMIM:226650|UMLS:C0079301|ICD10:Q81.8|Orphanet:251393|UMLS:C2673609|GARD:0002151 owl:Class MONDO:0017612 biolink:NamedThing junctional epidermolysis bullosa Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. tmpte7i6ely_mondo_relaxed.owl junctional epidermolysis bullosa|epidermolysis bullosa atrophicans|epidermolysis bullosa, junctional|congenital junctional epidermolysis bullosa|EBJ|JEB|epidermolysis bullosa hereditaria letalis SCTID:33662006|GARD:0002152|Orphanet:305|UMLS:C0079301|DOID:3209|NCIT:C90598|MESH:D016109|SCTID:79855003 https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa owl:Class GO:0033500 biolink:NamedThing carbohydrate homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017630 biolink:NamedThing X-linked complicated spastic paraplegia type 1 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. tmpte7i6ely_mondo_relaxed.owl SPG1 UMLS:CN203524|GARD:0012525|Orphanet:306617 owl:Class NCBITaxon:480117 biolink:NamedThing Cyclorrhapha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:480118 biolink:NamedThing Eremoneura tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005993 biolink:NamedThing Trichomonas vaginitis urogenital infection A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. tmpte7i6ely_mondo_relaxed.owl Trichomonas vaginalis trichomoniasis|Trichomonas vaginalis caused disease of genitourinary system|urogenital infection caused by Trichomonas vaginalis|urogenital infection by Trichomonas vaginalis|urogenital Trichomonas|Trichomonas vaginalis disease of genitourinary system|urogenital trichomoniasis|Trichomonas vaginitis MESH:D014247|ICD10:A59.00|DOID:0050269|NCIT:C35083|EFO:0007521|SCTID:35089004|ICD10:A59.0|ICD9:131.00|ICD9:131.09 owl:Class MONDO:0002154 biolink:NamedThing trichomoniasis An infection that is caused by Trichomonas. tmpte7i6ely_mondo_relaxed.owl infections, Trichomonas|Trichomonas infection DOID:1947|UMLS:C0040921|ICD9:131.9|MESH:D014245|ICD9:131.8|ICD10:A59.9|ICD10:A59|NCIT:C35720|SCTID:56335008|ICD9:131 owl:Class UBERON:0002406 biolink:NamedThing pericardial sac tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001122 biolink:NamedThing chronic maxillary sinusitis Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpte7i6ely_mondo_relaxed.owl maxillary sinusitis, chronic|chronic antritis NCIT:C34477|ICD9:473.0|ICD10:J32.0|SCTID:35923002|UMLS:C0008698|DOID:10792 owl:Class UBERON:0007182 biolink:NamedThing muscle layer of infundibulum of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7605 biolink:NamedThing MYO6 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:52206 biolink:NamedThing biochemical role A biological role played by the molecular entity or part thereof within a biochemical context. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007618 biolink:NamedThing mating The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000763 biolink:NamedThing Sensory neuropathy Peripheral neuropathy affecting the sensory nerves. tmpte7i6ely_mondo_relaxed.owl Damage to nerves that sense feeling|Peripheral sensory neuropathy UMLS:C0151313|SNOMEDCT_US:95662005 HP:0007043|HP:0003410|HP:0007142|HP:0006815 human_phenotype owl:Class GO:0032504 biolink:NamedThing multicellular organism reproduction The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005417 biolink:NamedThing wet macular degeneration A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. tmpte7i6ely_mondo_relaxed.owl wet senile macular retinal degeneration|wet ARMD|wet AMD|neovascular age-related macular degeneration|Senile macular degeneration, wet|wet age related macular degeneration|exudative senile macular degeneration of retina|Kuhnt-Junius degeneration EFO:0004683|UMLS:C2237660|SCTID:414173003|UMLS:C0271084|MESH:D057135|DOID:10873|ICD10:H35.32|ICD9:362.52 owl:Class UBERON:0006266 biolink:NamedThing nasolacrimal groove tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001524 biolink:NamedThing frozen land Land which is below the freezing point of water. tmpte7i6ely_mondo_relaxed.owl frozen ground owl:Class ENVO:01001785 biolink:NamedThing land A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016001 biolink:NamedThing 2-hydroxyglutaric aciduria 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. tmpte7i6ely_mondo_relaxed.owl 2-hydroxyglutaric aciduria|2-HGA|2-hydroxyglutaric acidemia NCIT:C128187|UMLS:C2746066|SCTID:698870008|DOID:0050573|ICD10:E72.8|ICD9:270.8|Orphanet:19|GARD:0010761|MESH:C535306 https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria owl:Class UBERON:0008435 biolink:NamedThing vertebral arch of sacral segment tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003861 biolink:NamedThing neural arch tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004528 biolink:NamedThing lymph node palisaded myofibroblastoma A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading. tmpte7i6ely_mondo_relaxed.owl palisaded lymph node myofibroblastoma|palisaded myofibroblastoma of the lymph node|palisaded myofibroblastoma of lymph node DOID:8304|NCIT:C6584|UMLS:C1335295 owl:Class MONDO:0024339 biolink:NamedThing lymph node neoplasm A neoplasm involving a lymph node. tmpte7i6ely_mondo_relaxed.owl tumor of lymph node|neoplasm of lymph node|lymph node neoplasm (disease)|lymph node neoplasm|lymph node tumor GARD:0006932|NCIT:C35497 owl:Class MONDO:0022662 biolink:NamedThing carpo tarsal osteolysis recessive tmpte7i6ely_mondo_relaxed.owl GARD:0001129 https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive owl:Class HGNC:9016 biolink:NamedThing PKHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018698 biolink:NamedThing hereditary neuroendocrine tumor of small intestine An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary small intestine neuroendocrine neoplasm|hereditary neuroendocrine tumor of small bowel|hereditary neuroendocrine tumor of the small intestine Orphanet:456333|UMLS:CN237770|UMLS:CN847586 owl:Class MONDO:0006982 biolink:NamedThing subacute thyroiditis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. tmpte7i6ely_mondo_relaxed.owl De Quervain thyroiditis|DeQuervain thyroiditis|Subacute granulomatous thyroiditis|De Quervain's thyroiditis|Subacute thyroiditis|de Quervain's thyroiditis|granulomatous thyroiditis|giant-cell thyroiditis ICD9:245.1|EFO:1001194|UMLS:C0040149|SCTID:428041004|MESH:D013968|NCIT:C35828|ICD10:E06.1|MedDRA:10042298|DOID:7165 owl:Class MONDO:0100059 biolink:NamedThing hypereosinophilia of undetermined significance Long-lasting, unexplained and asymptomatic blood hypereosinophilia. tmpte7i6ely_mondo_relaxed.owl benign eosinophilia|HEUS 2018-09-12 23:02:52+00:00 owl:Class MONDO:0030902 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 36 tmpte7i6ely_mondo_relaxed.owl MC1DN36|mitochondrial complex 1 deficiency, nuclear type 36 OMIM:619170 owl:Class MONDO:0015146 biolink:NamedThing classic lissencephaly tmpte7i6ely_mondo_relaxed.owl ILS|lissencephaly type 1|lissencephaly classic|lissencephaly sequence isolated GARD:0005049|ICD10:Q04.3|Orphanet:102009 owl:Class MONDO:0013143 biolink:NamedThing hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency tmpte7i6ely_mondo_relaxed.owl thrombophilia due to histidine-rich glycoprotein deficiency|hereditary thrombophilia due to congenital HRG deficiency|THPH11|thrombophilia due to elevated histidine-rich glycoprotein ICD10:D68.5|OMIM:613116|Orphanet:217467|MESH:C567737 owl:Class MONDO:0016929 biolink:NamedThing partial duplication of chromosome 8 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome type 8|partial trisomy of chromosome 8 Orphanet:262638|SCTID:726347008|MESH:C537941 owl:Class FOODON:03412702 biolink:NamedThing kid (goat) A young goat tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:9925 biolink:NamedThing Capra hircus tmpte7i6ely_mondo_relaxed.owl Capra aegagrus hircus|goats|Capra hircus Linnaeus, 1758|goat|domestic goat GC_ID:1 NCBITaxon:57076 ncbi_taxonomy owl:Class ENVO:01000321 biolink:NamedThing sea water environment An environmental system determined by seawater. tmpte7i6ely_mondo_relaxed.owl ocean water environment owl:Class ENVO:01000307 biolink:NamedThing saline water environment An environmental system which has its properties and dynamics determined by saline water. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009057 biolink:NamedThing cyanosis and hepatic disease tmpte7i6ely_mondo_relaxed.owl cyanosis and hepatic disease MESH:C565660|OMIM:219400|UMLS:C1857443 owl:Class NCBITaxon:6944 biolink:NamedThing Ixodes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018844 biolink:NamedThing urachal cyst Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. tmpte7i6ely_mondo_relaxed.owl urachal cyst (disease)|urachal cyst urachal cyst (disease) SCTID:17234001|MESH:D014496|ICD10:Q64.4|Orphanet:488|NCIT:C85216|HP:0012618|GARD:0005425|MedDRA:10065375 owl:Class MONDO:0018565 biolink:NamedThing congenital urachal anomaly Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. tmpte7i6ely_mondo_relaxed.owl Orphanet:435743 owl:Class MONDO:0016195 biolink:NamedThing qualitative or quantitative defects of beta-myosin heavy chain (MYH7) tmpte7i6ely_mondo_relaxed.owl Orphanet:209185 owl:Class MONDO:0016712 biolink:NamedThing classic medulloblastoma Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia. tmpte7i6ely_mondo_relaxed.owl classic medulloblastoma SCTID:699704002|UMLS:C1707400|ICD10:C71.6|OMIM:155255|NCIT:C54039|Orphanet:251867 owl:Class MONDO:0007959 biolink:NamedThing medulloblastoma A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. tmpte7i6ely_mondo_relaxed.owl cerebellum embryonal neoplasm|localized primitive neuroectodermal tumor|cerebellar medulloblastoma|medulloblastoma with extensive nodularity|CPNET|brain medulloblastoma|medulloblastoma, malignant|medulloblastomas|medulloblastoma|medulloblastoma, Desmoplastic|CNS PNET|MDB|infratentorial primitive neuroectodermal tumor EFO:0002939|DOID:0050902|DOID:0060104|UMLS:C1334970|Orphanet:251858|NCIT:C3222|SCTID:443333004|MESH:D008527|ICDO:9470/3|UMLS:C0751291|MedDRA:10027107|ONCOTREE:MBL|UMLS:C1334410|Orphanet:251867|ICD10:C71.6|OMIM:155255|GARD:0007005|Orphanet:616|Orphanet:251863|UMLS:C0025149 https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma owl:Class MONDO:0023046 biolink:NamedThing ectodermal dysplasia blindness tmpte7i6ely_mondo_relaxed.owl GARD:0002045 https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness owl:Class MONDO:0011081 biolink:NamedThing dislocation of the hip-dysmorphism syndrome Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. tmpte7i6ely_mondo_relaxed.owl hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism|Collins-Pope syndrome|dislocation of the hip dysmorphism|Collins Pope syndrome|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism OMIM:601450|UMLS:C1832353|MESH:C563315|Orphanet:2412|ICD10:Q87.2|SCTID:763755009|GARD:0001428 https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome owl:Class MONDO:0010754 biolink:NamedThing van den Bosch syndrome Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. tmpte7i6ely_mondo_relaxed.owl mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity|van den Bosch syndrome UMLS:C0796192|OMIM:314500|SCTID:733110004|MESH:C563129|GARD:0005453|Orphanet:3417 https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome owl:Class MONDO:0024648 biolink:NamedThing optic tract meningioma A meningioma that affects the visual pathway. tmpte7i6ely_mondo_relaxed.owl meningioma of optic tract|meningioma (disease) of optic tract|optic tract meningioma|meningioma of the optic tract|optic tract meningioma (disease)|meningioma of the visual pathway|visual pathway meningioma|meningioma of visual pathway UMLS:C1336972|NCIT:C5587 owl:Class MONDO:0010088 biolink:NamedThing mucosulfatidosis Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. tmpte7i6ely_mondo_relaxed.owl juvenile sulfatidosis, Austin type|sulfatidosis juvenile, Austin type|MSD|mucosulfatidosis|juvenile sulfatidosis|multiple sulfatase deficiency|multiple sulfatase deficiency disease|sulfatidosis, juvenile, Austin type ICD10:E75.2|DOID:0050441|MESH:D052517|UMLS:C0268263|OMIM:272200|NCIT:C84908|SCTID:54898003|Orphanet:585|GARD:0005061 owl:Class MONDO:0011779 biolink:NamedThing laryngeal atresia, encephalocele, and limb deformities tmpte7i6ely_mondo_relaxed.owl Lel|laryngeal atresia, encephalocele, and limb deformities UMLS:C1846721|MESH:C564620|OMIM:607132 owl:Class UBERON:0022356 biolink:NamedThing outer layer of endometrium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:27479 biolink:NamedThing Reduviidae tmpte7i6ely_mondo_relaxed.owl assassin bugs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33356 biolink:NamedThing Reduvioidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001394 biolink:NamedThing Cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. tmpte7i6ely_mondo_relaxed.owl Scar tissue replaces healthy tissue in the liver|Liver cirrhosis|Hepatic cirrhosis MSH:D008103|UMLS:C0023890|SNOMEDCT_US:19943007 Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. human_phenotype owl:Class MONDO:0021579 biolink:NamedThing neoplasm of femur A neoplasm (disease) that involves the femur. tmpte7i6ely_mondo_relaxed.owl neoplasm of femur|tumor of femur|femur neoplasm|femur neoplasm (disease)|femur tumor SCTID:126583006|ICD9:239.2 owl:Class MONDO:0012076 biolink:NamedThing midface hypoplasia, obesity, developmental delay, and neonatal hypotonia tmpte7i6ely_mondo_relaxed.owl midface hypoplasia, obesity, developmental delay, and neonatal hypotonia UMLS:C1837730|OMIM:608624|MESH:C563896 owl:Class HGNC:9066 biolink:NamedThing PLCG2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002757 biolink:NamedThing immune response-activating signal transduction The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020587 biolink:NamedThing factor XI deficiency A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. tmpte7i6ely_mondo_relaxed.owl factor XI deficiency NCIT:C131739|SCTID:767713001 owl:Class MONDO:0100023 biolink:NamedThing self-limited familial and non-familial neonatal seizures A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. tmpte7i6ely_mondo_relaxed.owl self-limited familial neonatal-infantile epilepsy 2018-06-22 23:38:16+00:00 Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy. owl:Class UBERON:0003605 biolink:NamedThing eye skin gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024323 biolink:NamedThing glomangiomyoma A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle. tmpte7i6ely_mondo_relaxed.owl glomangiomyoma ICDO:8713/0|DOID:8020|NCIT:C4223|UMLS:C0334422 owl:Class MONDO:0003886 biolink:NamedThing mucinous cystadenofibroma A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl mucinous cystadenofibroma NCIT:C8979|DOID:6468|UMLS:C1377844 owl:Class MONDO:0002398 biolink:NamedThing mucinous adenofibroma A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential. tmpte7i6ely_mondo_relaxed.owl mucinous adenofibroma UMLS:C0334499|NCIT:C8978|ICDO:9015/0|DOID:2700 owl:Class ENVO:01001176 biolink:NamedThing environment associated with an aquatic invertebrate An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001002 biolink:NamedThing animal-associated environment An environmental system determined by an animal. tmpte7i6ely_mondo_relaxed.owl Metazoan-associated environment|animal environment owl:Class UBERON:0014717 biolink:NamedThing mucous acinus tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000158 biolink:NamedThing club cell Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium. tmpte7i6ely_mondo_relaxed.owl bronchiolar non-ciliated cell|Clara cell|club cell of bronchiole BTO:0004811|FMA:14119 cell owl:Class NBO:0000011 biolink:NamedThing social behavior "A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior] tmpte7i6ely_mondo_relaxed.owl social behaviour owl:Class NBO:0000313 biolink:NamedThing behavior process "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610] tmpte7i6ely_mondo_relaxed.owl behaviour|behavior owl:Class MONDO:0015386 biolink:NamedThing epignathus Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. tmpte7i6ely_mondo_relaxed.owl epignathus (disease)|Epignathus|oropharyngeal teratoma epignathus (disease) UMLS:C0266725|SCTID:31248004|Orphanet:141077|ICD10:D37.0|HP:0030767 owl:Class UBERON:0001943 biolink:NamedThing midbrain tegmentum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010976 biolink:NamedThing epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex, autosomal recessive 1|epidermolysis bullosa simplex, autosomal recessive K14|KRT14-related autosomal recessive EBS|KRT14-related autosomal recessive epidermolysis bullosa simplex|epidermolysis bullosa simplex, autosomal recessive type 1|EBSB1|KRT14-related epidermolysis bullosa simplex|EBS, autosomal recessive K14|EBS-AR KRT14 ICD10:Q81.0|Orphanet:89838|MESH:C563408|OMIM:601001 owl:Class MONDO:0015551 biolink:NamedThing basal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes. tmpte7i6ely_mondo_relaxed.owl stratum basale of epidermis epidermolysis bullosa simplex|epidermolysis bullosa simplex of stratum basale of epidermis 2022-05-01 UMLS:C4302031|Orphanet:158665|ICD10:Q81.0|SCTID:723163000 Reason: out of scope. Term to consider: epidermolysis bullosa simplex MONDO:0030613 owl:Class UBERON:0005906 biolink:NamedThing serous sac tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000992 biolink:NamedThing viscosity A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2731341 biolink:NamedThing Duplodnaviria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018010 biolink:NamedThing juvenile idiopathic inflammatory myopathy tmpte7i6ely_mondo_relaxed.owl JIIM Orphanet:329888 owl:Class MONDO:0001928 biolink:NamedThing suppurative cholangitis Cholangitis that is characterized by pyogenic organisms. tmpte7i6ely_mondo_relaxed.owl suppurative cholangitis SCTID:69850007|DOID:14269|NCIT:C35336|ICD10:K83.0|UMLS:C0267924 owl:Class UBERON:0016531 biolink:NamedThing white matter of parietal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016527 biolink:NamedThing white matter of cerebral lobe tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003588 biolink:NamedThing forelimb connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012223 biolink:NamedThing hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate tmpte7i6ely_mondo_relaxed.owl Marie Unna-like scalp hypotrichosis|hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate OMIM:609250|UMLS:C1836521|MESH:C563765 owl:Class MONDO:0007792 biolink:NamedThing familial hypocalciuric hypercalcemia 2 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. tmpte7i6ely_mondo_relaxed.owl FHH type 2|familial hypocalciuric hypercalcemia type 2|hypocalciuric hypercalcemia type II|FBH2|familial benign hypercalcemia, type 2|hypocalciuric hypercalcemia, familial, type 2|hypocalciuric hypercalcemia, familial, type II|hypercalcemia, familial benign type 2|HHC2|hypercalcemia, familial benign, type 2 ICD10:E83.5|DOID:0060701|Orphanet:405|Orphanet:101049|MESH:C537146|GARD:0009758|OMIM:145981|UMLS:C1840347 owl:Class MONDO:0018458 biolink:NamedThing familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. tmpte7i6ely_mondo_relaxed.owl familial benign hypercalcemia|FBHH|familial benign hypocalciuric hypercalcemia|FHH|FBH|hypocalciuric hypercalcemia ICD10:E83.5|GARD:0010828|OMIM:145980|OMIMPS:145980|DOID:0060699|NCIT:C123262|Orphanet:405|OMIM:600740|SCTID:237885008|UMLS:C1809471|OMIM:145981|UMLS:C0342637 owl:Class MONDO:0000686 biolink:NamedThing alexia without agraphia Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483) tmpte7i6ely_mondo_relaxed.owl Pure alexias|verbal agnosia, visual|without Agraphias, alexia|Word blindness, Pure|blindness, Pure Word|verbal Agnosias, visual|alexia without agraphia|alexia syndrome without agraphia|Agraphias, alexia without|Agnosias, visual verbal|without agraphia, alexia|Word Blindnesses, Pure|Pure Word blindness|visual verbal agnosia|agraphia, alexia without|visual verbal Agnosias|Pure alexia|alexia without Agraphias|Pure Word Blindnesses|Blindnesses, Pure Word|alexias, Pure|agnosia, visual verbal|Pure alexia without agraphia DOID:0060156|MESH:D020237 owl:Class MONDO:0011777 biolink:NamedThing Alzheimer disease 8 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. tmpte7i6ely_mondo_relaxed.owl Ad8|Alzheimer disease, familial 8|Alzheimer disease 8|Alzheimer disease, familial, 8|AD8|Alzheimer's disease type 8|Alzheimer's disease 8|Alzheimer disease type 8 ICD10:G30|DOID:0110041|UMLS:C1846735|OMIM:607116|MESH:C564622 owl:Class MONDO:0007726 biolink:NamedThing hip dysplasia, Beukes type Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. tmpte7i6ely_mondo_relaxed.owl hip dysplasia Beukes type|hip dysplasia, Beukes type|BFHD|Beukes familial hip dysplasia|premature degenerative osteoarthropathy of the hip|Beukes hip dysplasia|BHD|Cilliers-Beighton syndrome|osteoarthropathy, premature degenerative, of hip OMIM:142669|MESH:C564185|GARD:0002690|ICD10:Q65.8|DOID:0111367|SCTID:721148005|Orphanet:2114 owl:Class PATO:0001294 biolink:NamedThing radiation reflective quality A scalar EM radiation quality which obtains by the capacity of the bearer to scatter or reflect radiation. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001292 biolink:NamedThing full-spectrum EM radiation quality An EM radiation quality that is independent of the EM wavelength range. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1245 biolink:NamedThing C1QC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000230 biolink:NamedThing Israeli tick typhus An infectious disease caused by infection with rickettsia conorii subsp. israelensis. tmpte7i6ely_mondo_relaxed.owl Israeli spotted fever DOID:0050043 owl:Class MONDO:0100008 biolink:NamedThing food protein-induced enterocolitis syndrome An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated. tmpte7i6ely_mondo_relaxed.owl FPIES|delayed food allergy 2018-06-22 21:10:26+00:00 owl:Class MONDO:0013663 biolink:NamedThing platelet-activating factor acetylhydrolase deficiency tmpte7i6ely_mondo_relaxed.owl PAFAD|platelet-activating factor acetylhydrolase deficiency|platelet-activating factor acetylhydrolase deficiency (disease) platelet-activating factor acetylhydrolase deficiency (disease) HP:0040175|MESH:C566640|OMIM:614278|UMLS:C3280315 owl:Class MONDO:0005412 biolink:NamedThing duodenal ulcer An ulcer in the duodenal wall. tmpte7i6ely_mondo_relaxed.owl duodenal ulcer|curling Ulcer|stress Ulcer|curling's ulcers|duodenal ulcer (disease) duodenal ulcer (disease) ICD9:532|MESH:D004381|EFO:0004607|ICD10:K26|NCIT:C26755|DOID:1724|SCTID:39755000|HP:0002588 owl:Class MONDO:0032923 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 28 tmpte7i6ely_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28|SCAR28 OMIM:618800 owl:Class MONDO:0008561 biolink:NamedThing thumb deformity tmpte7i6ely_mondo_relaxed.owl thumb deformity|thumb absent or hypoplastic|thumb deformity (disease)|thumb hypoplastic thumb deformity (disease) GARD:0008482|OMIM:188100|MESH:C536903|HP:0001172 owl:Class GO:0050668 biolink:NamedThing positive regulation of homocysteine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpte7i6ely_mondo_relaxed.owl activation of homocysteine metabolic process|stimulation of homocysteine metabolic process|positive regulation of Hcy metabolism|positive regulation of Hcy metabolic process|up-regulation of homocysteine metabolic process|up regulation of homocysteine metabolic process|upregulation of homocysteine metabolic process|positive regulation of homocysteine metabolism owl:Class MONDO:0021329 biolink:NamedThing carcinoma of soft palate A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl soft palate carcinoma|carcinoma of the soft palate|carcinoma of soft palate|soft palate cancer UMLS:C0345555|SCTID:254435009|NCIT:C8395 owl:Class MONDO:0004611 biolink:NamedThing soft palate cancer A primary or metastatic malignant neoplasm that affects the soft palate. tmpte7i6ely_mondo_relaxed.owl soft palate cancer|cancer of soft palate|malignant neoplasm of soft palate|malignant soft palate tumor|malignant soft palate neoplasm|malignant tumor of soft palate|malignant tumor of the soft palate|malignant neoplasm of the soft palate DOID:8578|NCIT:C3529|ICD10:C05.1|UMLS:C0153376|ICD9:145.3|SCTID:363388009 owl:Class GO:0061036 biolink:NamedThing positive regulation of cartilage development Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017561 biolink:NamedThing congenital genu flexum tmpte7i6ely_mondo_relaxed.owl ICD10:Q68.2|Orphanet:295232 owl:Class MONDO:0017470 biolink:NamedThing congenital knee dislocation tmpte7i6ely_mondo_relaxed.owl congenital knee dislocation|congenital knee dislocation (disease) congenital knee dislocation (disease) HP:0005191|Orphanet:295034|ICD9:754.41|MedDRA:10010520|SCTID:59068006|ICD10:Q68.2 owl:Class GO:0014832 biolink:NamedThing urinary bladder smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014848 biolink:NamedThing urinary tract smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010608 biolink:NamedThing posttranscriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008381 biolink:NamedThing dominant pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. tmpte7i6ely_mondo_relaxed.owl retinopathy, pericentral pigmentary, dominant UMLS:C1867261|Orphanet:791|MESH:C566713|OMIM:180210|DOID:0110420|ICD10:H35.5 owl:Class GO:0042364 biolink:NamedThing water-soluble vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in water. tmpte7i6ely_mondo_relaxed.owl water-soluble vitamin biosynthesis|water-soluble vitamin synthesis|water-soluble vitamin anabolism|water-soluble vitamin formation owl:Class CHEBI:47882 biolink:NamedThing cyclic polypyrrole tmpte7i6ely_mondo_relaxed.owl macrocyclic polypyrroles|cyclic polypyrroles|polypyrrole macrocycles owl:Class HP:0010910 biolink:NamedThing Hypervalinemia An increased concentration of valine in the blood. tmpte7i6ely_mondo_relaxed.owl High blood valine concentration UMLS:C0268573|MSH:C536524|SNOMEDCT_US:47719001 peter 2010-12-08T08:44:27Z human_phenotype owl:Class MONDO:0001533 biolink:NamedThing pes anserinus tendinitis or bursitis tmpte7i6ely_mondo_relaxed.owl ICD9:726.61|DOID:12475 owl:Class MONDO:0003477 biolink:NamedThing brain stem ependymoma An ependymoma that arises from the brain stem. tmpte7i6ely_mondo_relaxed.owl ependymoma of brain stem|ependymoma of brainstem|brain stem ependymoma|ependymoma of the brainstem|brainstem ependymoma|ependymoma of the brain stem NCIT:C5098|UMLS:C1332609|DOID:5508 owl:Class UBERON:0010025 biolink:NamedThing dorsal part of pharyngeal pouch 3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018794 biolink:NamedThing cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder tmpte7i6ely_mondo_relaxed.owl GURDP|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS|cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder|platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|Phospholipase A2, Group Iva, Deficiency of|PLA2G4A-related platelet dysfunction Orphanet:477787|OMIM:618372|UMLS:CN776897 owl:Class MONDO:0016142 biolink:NamedThing qualitative or quantitative defects of beta-sarcoglycan tmpte7i6ely_mondo_relaxed.owl beta-sarcoglycanopathy UMLS:C2930900|Orphanet:207063|GARD:0000870|HGNC:10806|MESH:C535435 owl:Class HGNC:5102 biolink:NamedThing HOXA13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012077 biolink:NamedThing amyotrophic lateral sclerosis type 8 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene. tmpte7i6ely_mondo_relaxed.owl ALS8|amyotrophic lateral sclerosis 8|amyotrophic lateral sclerosis type 8|VAPB amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in VAPB GARD:0010499|Orphanet:803|DOID:0050752|OMIM:608627|MESH:C563895 https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8 owl:Class MONDO:0009001 biolink:NamedThing macular coloboma-cleft palate-hallux valgus syndrome Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl coloboma of macula and skeletal anomalies UMLS:C1857619|MESH:C565686|OMIM:216800|ICD10:Q87.8|SCTID:722463001|Orphanet:91494 owl:Class UBERON:0001838 biolink:NamedThing sublingual duct tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11594 biolink:NamedThing TBX15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004142 biolink:NamedThing lung combined large cell neuroendocrine carcinoma A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. tmpte7i6ely_mondo_relaxed.owl combined large cell neuroendocrine carcinoma of the lung|pulmonary combined large cell neuroendocrine carcinoma|combined large cell lung neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of lung DOID:7207|UMLS:C1333122|NCIT:C7267 owl:Class CL:0000447 biolink:NamedThing carbohydrate secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:7497 biolink:NamedThing MT-TS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032645 biolink:NamedThing trichohepatoneurodevelopmental syndrome tmpte7i6ely_mondo_relaxed.owl THNS|TRICHOHEPATONEURODEVELOPMENTAL SYNDROME OMIM:618268 owl:Class MONDO:0021517 biolink:NamedThing benign neoplasm of trachea A benign neoplasm that involves the trachea. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the trachea|benign tracheal tumor|benign tumor of trachea|benign trachea neoplasm|benign tracheal neoplasm|trachea benign neoplasm|benign trachea tumor|benign tumor of the trachea ICD10:D14.2|UMLS:C0153953|NCIT:C3602|SCTID:92446002|ICD9:212.2 owl:Class NCBITaxon:10241 biolink:NamedThing Chordopoxvirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003962 biolink:NamedThing Froelich syndrome Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. tmpte7i6ely_mondo_relaxed.owl Frohlich syndrome|Froehlich syndrome|Launois-Cleret syndrome|adiposogenital syndrome|adiposogenital dystrophy|Frohlich's syndrome|Froelich's syndrome|dystrophia Adiposogenitalis|sexual infantilism|Babinski-Froelich syndrome|Froelich's adiposity|hypothalamic infantilism-obesity|Froehlich's syndrome|Frolich's syndrome|Fröhlich syndrome|Adiposodysgenesis SCTID:62999006|NCIT:C34625|ICD9:253.8|ICD10:E23.6|DOID:6676|GARD:0006463|MESH:D007027 https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome owl:Class NCBITaxon:2509494 biolink:NamedThing Merbecovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694002 biolink:NamedThing Betacoronavirus tmpte7i6ely_mondo_relaxed.owl Coronavirus group 2|Group 2 species|Coronavirus GC_ID:1 NCBITaxon:156439 ncbi_taxonomy owl:Class MONDO:0600011 biolink:NamedThing mild hypophosphatasia Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. tmpte7i6ely_mondo_relaxed.owl attenuated hypophosphatasia http://orcid.org/0000-0002-5460-8025 owl:Class ECTO:9001813 biolink:NamedThing exposure to amphiprotic solvent An exposure to amphiprotic solvent. tmpte7i6ely_mondo_relaxed.owl exposure to amphiprotic solvent owl:Class MONDO:0020707 biolink:NamedThing central hearing loss Hearing loss resulting from disorders of the central nervous system auditory pathways. tmpte7i6ely_mondo_relaxed.owl central hearing loss NCIT:C34662 owl:Class MONDO:0005746 biolink:NamedThing enterobiasis An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. tmpte7i6ely_mondo_relaxed.owl pinworm infection|Enterobius vermicularis infection|threadworm infection|oxyuriasis|Oxyuris vermicularis infection|Enterobius vermicularis disease or disorder|Enterobius vermicularis caused disease or disorder|Enterobius vermicularis infectious disease ICD10:B80|ICD9:127.4|UMLS:C0030100|UMLS:C0086227|NCIT:C128396|DOID:7457|SCTID:266162007|EFO:0007254 owl:Class MONDO:0011431 biolink:NamedThing MASS syndrome A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. tmpte7i6ely_mondo_relaxed.owl MASS syndrome|MASS phenotype|overlap connective tissue disease|OCTD|Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings MESH:C536030|Orphanet:99715|GARD:0008489|OMIM:604308|UMLS:C1858556 https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome owl:Class NCBITaxon:1437183 biolink:NamedThing Mesangiospermae tmpte7i6ely_mondo_relaxed.owl PMID:25249442|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:3398 biolink:NamedThing Magnoliopsida tmpte7i6ely_mondo_relaxed.owl angiosperms|Magnoliophyta|flowering plants|Angiospermae GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class GO:0055065 biolink:NamedThing metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043459 biolink:NamedThing radiation-induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. tmpte7i6ely_mondo_relaxed.owl radiation-induced Abnormality|radiation-induced disorder|radiation-induced abnormalities|Abnormality, radiation-induced|abnormalities, radiation induced|radiation induced abnormalities SCTID:85983004|Orphanet:521132|MESH:D000016|NCIT:C26684|UMLS:C1527225 owl:Class MONDO:0012102 biolink:NamedThing glaucoma 1, open angle, K tmpte7i6ely_mondo_relaxed.owl JOAG1K|glaucoma 1, open angle, K|GLC1K|glaucoma, primary open angle, juvenile-onset, 3 OMIM:608696|UMLS:C1837527|MESH:C563873|Orphanet:98977 owl:Class HGNC:12926 biolink:NamedThing ZNF141 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033365 biolink:NamedThing developmental and epileptic encephalopathy, 56 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 56|EIEE56|infantile epileptic encephalopathy 56|DEE56 OMIM:617665|DOID:0080282|UMLS:CN477042 owl:Class MONDO:0001505 biolink:NamedThing alcoholic hepatitis Acute hepatitis resulting from ingestion of alcohol. tmpte7i6ely_mondo_relaxed.owl acute alcoholic Hepatitis|alcoholic hepatitis|acute alcoholic liver disease|acute alcoholic hepatitis|alcoholic Hepatitis NCIT:C34684|UMLS:C0001306|ICD9:571.1|ICD10:K70.1|CSP:1754-6978|DOID:12351|MESH:D006519|SCTID:235875008 owl:Class HGNC:11161 biolink:NamedThing SNRPE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011916 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. tmpte7i6ely_mondo_relaxed.owl autosomal recessive axonal CMT4C4|Charcot-Marie-Tooth disease, autosomal dominant, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|ARCMT2K|Charcot-Marie-Tooth neuropathy axonal type 2K|CMT2K|Charcot-Marie-Tooth neuropathy, axonal, type 2K|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K DOID:0110167|UMLS:C1842984|ICD10:G60.0|OMIM:607831|SCTID:725047007|Orphanet:101097|UMLS:C1842983|Orphanet:99944|OMIM:607706 owl:Class HGNC:1857 biolink:NamedThing CENPF tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23212 biolink:NamedThing MYH14 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000559 biolink:NamedThing promonocyte A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. tmpte7i6ely_mondo_relaxed.owl FMA:83551|BTO:0004657 Morphology: Mononuclear cell, diameter 14-18 _M, fine azurophilic granules; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; Fetal: Liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0003873 biolink:NamedThing ovarian surface papilloma A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. tmpte7i6ely_mondo_relaxed.owl ovarian surface papilloma DOID:6407|NCIT:C7279|UMLS:C1335183 owl:Class MONDO:0021033 biolink:NamedThing herpes zoster dermatitis Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve. tmpte7i6ely_mondo_relaxed.owl herpes zoster dermatitis NCIT:C35619 owl:Class HGNC:37234 biolink:NamedThing TMEM231 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006303 biolink:NamedThing middle ear squamous cell carcinoma A rare squamous cell carcinoma that arises from the middle ear. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of middle Ear|epidermoid carcinoma of the middle Ear|epidermoid carcinoma of the middle ear|squamous cell carcinoma of the middle Ear|squamous cell carcinoma of middle Ear|middle Ear epidermoid carcinoma|squamous cell carcinoma of middle ear|middle ear squamous cell carcinoma DOID:5526|NCIT:C6086|UMLS:C1334762|EFO:1000378 owl:Class MONDO:0013474 biolink:NamedThing hypertrophic cardiomyopathy 17 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in JPH2|JPH2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 17|hypertrophic cardiomyopathy type 17|CMH17|cardiomyopathy familial hypertrophic 17|cardiomyopathy, familial hypertrophic, type 17 OMIM:613873|DOID:0110323|UMLS:C3151264 owl:Class HGNC:9069 biolink:NamedThing PLEC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100121 biolink:NamedThing SCN4A-related myopathy, autosomal recessive Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. tmpte7i6ely_mondo_relaxed.owl congenital myopathy with severe fetal hypokinesia|congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|SCN4A-related myopathy, autosomal recessive|myopathy with ptosis and mild dystrophic pattern https://www.clinicalgenome.org/affiliation/40061/ owl:Class MONDO:0024654 biolink:NamedThing skull disorder A non-neoplastic or neoplastic disorder that affects structures of the skull. tmpte7i6ely_mondo_relaxed.owl disorder of skull|disease or disorder of skull|skull disorder|skull disease or disorder|skull disease|disease of skull SCTID:118945008|NCIT:C27655|UMLS:C1290854 owl:Class HGNC:21144 biolink:NamedThing DSE tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016051 biolink:NamedThing carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpte7i6ely_mondo_relaxed.owl anabolic carbohydrate metabolic process|carbohydrate synthesis|anabolic carbohydrate metabolism|carbohydrate formation|carbohydrate anabolism|carbohydrate biosynthesis owl:Class UBERON:0000068 biolink:NamedThing embryo stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. tmpte7i6ely_mondo_relaxed.owl embryonic stage|embryogenesis owl:Class MONDO:0014147 biolink:NamedThing neuronal ceroid lipofuscinosis 13 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene. tmpte7i6ely_mondo_relaxed.owl neuronal ceroid lipofuscinosis caused by mutation in CTSF|ceroid lipofuscinosis, neuronal, 13, Kufs type|CLN13|neuronal ceroid lipofuscinosis 13 Kufs type|ceroid lipofuscinosis, neuronal, type 13|ceroid lipofuscinosis, neuronal, 13|CTSF neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 13|CLN13 disease DOID:0110727|Orphanet:352709|Orphanet:79262|ICD10:E75.4|OMIM:615362|UMLS:C3715049 owl:Class MONDO:0014368 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 10 tmpte7i6ely_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 10|susceptibility to cutaneous malignant melanoma 10|CMM10|melanoma, cutaneous malignant, susceptibility to, type 10 Orphanet:618|OMIM:615848 owl:Class GO:1903336 biolink:NamedThing negative regulation of vacuolar transport Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport. tmpte7i6ely_mondo_relaxed.owl down-regulation of vacuolar transport|inhibition of vacuolar transport|down regulation of vacuolar transport|downregulation of vacuolar transport owl:Class UBERON:0035403 biolink:NamedThing hypophysial artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010751 biolink:NamedThing unique green phenomenon tmpte7i6ely_mondo_relaxed.owl unique green phenomenon UMLS:C1839116|OMIM:314380 owl:Class MONDO:0019664 biolink:NamedThing short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. tmpte7i6ely_mondo_relaxed.owl SRPS type 3|short rib-polydactyly syndrome type 3|short rib-polydactyly syndrome type III|short rib polydactyly syndrome Verma Naumoff type|Verma Naumoff syndrome|polydactyly with neonatal chondrodystrophy type III UMLS:C0432197|GARD:0004835|Orphanet:93271|OMIM:615503|OMIM:613091|ICD9:759.89|SCTID:254051008|OMIM:615633|OMIM:614091|MESH:C537602|ICD10:Q77.2 owl:Class MONDO:0011420 biolink:NamedThing short stature due to partial GHR deficiency Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. tmpte7i6ely_mondo_relaxed.owl Growth hormone deficiency, isolated, partial|short stature due to partial growth hormone receptor deficiency|increased responsiveness to Growth hormone|GHIP|growth hormone insensitivity, partial|Growth hormone, insensitivity to, partial OMIM:604271|Orphanet:314802|MESH:C565805|ICD10:E34.3 owl:Class MONDO:0006909 biolink:NamedThing pituitary dwarfism Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. tmpte7i6ely_mondo_relaxed.owl NCIT:C34555|MESH:D004393|MedDRA:10035083|EFO:1001109|SCTID:367460001|ICD9:253.3|UMLS:C0013338 owl:Class CL:1001576 biolink:NamedThing oral mucosa squamous cell Squamous cell of oral epithelium. tmpte7i6ely_mondo_relaxed.owl oral cavity mucosa squamous epithelial cell|oral mucosa squamous epithelial cells|oral mucosa squamous epithelial cell|oral cavity mucosa squamous cell CALOHA:TS-1252 owl:Class UBERON:0010190 biolink:NamedThing pair of dorsal aortae tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q24.3 biolink:NamedThing 8q24.3 (Human) tmpte7i6ely_mondo_relaxed.owl 145138636 138900000 hg38 owl:Class MONDO:0012619 biolink:NamedThing intellectual disability, autosomal recessive 11 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 11|intellectual disability, autosomal recessive 11|MRT11 UMLS:C1970193|OMIM:611097|MESH:C567012|Orphanet:88616 owl:Class UBERON:0001325 biolink:NamedThing muscle of pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046943 biolink:NamedThing carboxylic acid transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001312 biolink:NamedThing acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. tmpte7i6ely_mondo_relaxed.owl acute non-suppurative otitis media - serous ICD9:381.01|DOID:11557|ICD10:H65.00|ICD10:H65.0|SCTID:194240006|UMLS:C0155415 owl:Class FOODON:03411312 biolink:NamedThing wheat plant Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat: * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world. * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat. * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance. * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use. * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002789 biolink:NamedThing hemangiopericytic tumor A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. tmpte7i6ely_mondo_relaxed.owl hemangiopericytic neoplasm EFO:1000289|NCIT:C7076|DOID:3850|UMLS:C0476144 Editor note: TODO check relationship to spindle cell tumor owl:Class MONDO:0002604 biolink:NamedThing pericytic neoplasm A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. tmpte7i6ely_mondo_relaxed.owl perivascular tumor|Pericytic tumor|malignant perivascular cancer|Pericytic neoplasm|perivascular neoplasm NCIT:C6528|UMLS:C1335392|DOID:3316 owl:Class OBO:CHR_9606-chrX biolink:NamedThing chromosome X (Human) tmpte7i6ely_mondo_relaxed.owl X 156040895 0 hg38 owl:Class MONDO:0006356 biolink:NamedThing parotid gland adenoid cystic carcinoma An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpte7i6ely_mondo_relaxed.owl parotid adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of the parotid gland|adenoid cystic carcinoma of parotid|parotid gland adenoid cystic carcinoma|adenoid cystic carcinoma of parotid gland EFO:1000459|DOID:0050931|SCTID:423615009|UMLS:C1335355|NCIT:C5937 owl:Class MONDO:0012173 biolink:NamedThing long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl long-chain 3-hydroxy acyl CoA dehydrogenase deficiency|long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase long chain deficiency|LCHADD|long-chain 3-OH acyl-CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|LCHAD deficiency|trifunctional protein deficiency type 1|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:609016|NCIT:C129929|GARD:0006867|ICD10:E71.3|UMLS:CN074230|UMLS:CN239369|UMLS:C3711645|Orphanet:5|SCTID:726021008 owl:Class NCBITaxon:11266 biolink:NamedThing Filoviridae tmpte7i6ely_mondo_relaxed.owl Filovirus GC_ID:1 NCBITaxon:11267 ncbi_taxonomy owl:Class MONDO:0009221 biolink:NamedThing femur-fibula-ulna complex Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal. tmpte7i6ely_mondo_relaxed.owl Ffu syndrome|FFU complex|femur-fibula-ulna syndrome|femur-fibula-ulna dysostosis|PFFD|femur fibula ulna syndrome ICD10:Q74.8|MESH:C537918|UMLS:C1856790|GARD:0002286|Orphanet:2019|MedDRA:10068448|OMIM:228200 owl:Class MONDO:0009224 biolink:NamedThing fetal iodine syndrome Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). tmpte7i6ely_mondo_relaxed.owl FIDD|endemic cretinism|fetal iodine deficiency disorder ICD10:P72.2|Orphanet:1910|SCTID:718228001|GARD:0002304|UMLS:C4273860|OMIM:228355 https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome owl:Class NCBITaxon:1538075 biolink:NamedThing Malasseziomycetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010293 biolink:NamedThing ectodermal dysplasia and immune deficiency tmpte7i6ely_mondo_relaxed.owl anhidrotic ectodermal dysplasia with immune deficiency|ectodermal dysplasia, hypohidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immunodeficiency|hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia with immune deficiency|Xhm-Ed|anhidrotic ectodermal dysplasia with immunodeficiency|EDA-ID|HED-ID|ectodermal dysplasia, anhidrotic, with immune deficiency Orphanet:98813|OMIM:300291|UMLS:C1846006|OMIM:612132|OMIMPS:300291|Orphanet:238468|SCTID:703525006|GARD:0009936|NCIT:C118844|ICD10:D82.8|MESH:C536181 owl:Class MONDO:0023017 biolink:NamedThing duplication of the thumb unilateral biphalangeal tmpte7i6ely_mondo_relaxed.owl GARD:0001977 https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal owl:Class MONDO:0010559 biolink:NamedThing MASA syndrome MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia 1|X-linked spastic paraplegia 1|spastic paraplegia, X-linked|Clasped thumb and mental retardation|adducted thumb with mental retardation|X-linked corpus callosum agenesis|Gareis-Mason syndrome|MASA syndrome|Clasped thumb and intellectual disability|thumb congenital clasped with intellectual disability|thumb, congenital Clasped, with mental retardation|adducted thumb with intellectual disability|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|crash syndrome|spastic paraplegia 1|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|spastic paraplegia 1, X-linked|thumb, congenital Clasped, with intellectual disability|X-linked complicated hereditary spastic paraplegia type 1|thumb congenital clasped with mental retardation|mental retardation, aphasia, shuffling Gait, and adducted thumbs|mental retardation aphasia shuffling Gait adducted thumbs (MASA) OMIM:303350|UMLS:C0795953|NCIT:C129930|Orphanet:275543|ICD10:G11.4|DOID:0060246|GARD:0006986|SCTID:716996008|Orphanet:2466 owl:Class MONDO:0020339 biolink:NamedThing X-linked complex spastic paraplegia tmpte7i6ely_mondo_relaxed.owl complicated X-linked HSP|Complex X-linked SPG|Complex X-linked HSP|X-linked complicated spastic paraplegia|complicated X-linked SPG ICD10:G11.4|Orphanet:98888 owl:Class MONDO:0010348 biolink:NamedThing dyslexia, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl dyslexia, susceptibility to, 9|DYX9 OMIM:300509 owl:Class HGNC:94 biolink:NamedThing ACAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005460 biolink:NamedThing swine influenza An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. tmpte7i6ely_mondo_relaxed.owl H1N1 Influenza|H1N1 flu|H1N1 Virus infection|Swine influenza virus caused influenza|swine flu|Swine influenza virus influenza|Influenza A (H1N1)|Influenza A (H1N1) Virus infection NCIT:C80444|SCTID:442696006|DOID:0050211|EFO:0005226 owl:Class MONDO:0031386 biolink:NamedThing cardioacrofacial dysplasia tmpte7i6ely_mondo_relaxed.owl OMIMPS:619142 owl:Class MONDO:0002423 biolink:NamedThing rectosigmoid junction neoplasm A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpte7i6ely_mondo_relaxed.owl tumor of rectosigmoid junction|neoplasm of the rectosigmoid junction|rectosigmoid tumor|rectosigmoid neoplasm|neoplasm of rectosigmoid junction|rectosigmoid junction tumor|tumor of the rectosigmoid junction|rectosigmoid junction neoplasm (disease) NCIT:C4877|UMLS:C0345873|SCTID:126848003|DOID:2780 owl:Class HGNC:469 biolink:NamedThing AMPD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015666 biolink:NamedThing familial idiopathic dilatation of the right atrium Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. tmpte7i6ely_mondo_relaxed.owl familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilatation of the right atrium (disease) Orphanet:1677|SCTID:716773002|ICD10:Q20.8|UMLS:CN200093 owl:Class MONDO:0002395 biolink:NamedThing renal adenoma An adenoma arising from the renal cortex. tmpte7i6ely_mondo_relaxed.owl renal cell adenoma|renal cell adenoma (morphologic abnormality)|adenoma, renal cell, benign|kidney adenoma|renal tubule adenoma|renal adenoma NCIT:C8383|UMLS:C0334684|DOID:2697 owl:Class MONDO:0010683 biolink:NamedThing X-linked centronuclear myopathy X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpte7i6ely_mondo_relaxed.owl centronuclear myopathy, X-linked|myotubular myopathy 1|MTM|CNMX|myotubular myopathy, X-linked|XLMTM|X-linked centronuclear myopathy|myopathy, centronuclear, X-linked|X-linked myotubular myopathy|XLCNM DOID:0111225|UMLS:C0410203|OMIM:310400|SCTID:46804001|ICD10:G71.2|Orphanet:596|GARD:0011925|NCIT:C118781 owl:Class MONDO:0011879 biolink:NamedThing neuronopathy, distal hereditary motor, type 7B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. tmpte7i6ely_mondo_relaxed.owl neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|Dhmn7B|neuropathy, distal hereditary motor, type 7B|HMN7B|neuronopathy, distal hereditary motor, type VIIB|DCTN1 neuronopathy, distal hereditary motor|HMN 7B|Lower motor neuron disease, dynactin type|neuronopathy, distal hereditary motor caused by mutation in DCTN1 UMLS:C1843315|Orphanet:139589|DOID:0111202|MESH:C564362|OMIM:607641 owl:Class MONDO:0013748 biolink:NamedThing ventricular septal defect 2 Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene. tmpte7i6ely_mondo_relaxed.owl ventricular septal defect (disease) caused by mutation in CITED2|CITED2 ventricular septal defect (disease)|VSD2|ventricular septal defect type 2|ventricular septal defect 2 OMIM:614431 owl:Class MONDO:0022863 biolink:NamedThing corneal crystals myopathy neuropathy tmpte7i6ely_mondo_relaxed.owl GARD:0001526 https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy owl:Class MONDO:0008020 biolink:NamedThing multiple exostoses with spastic tetraparesis tmpte7i6ely_mondo_relaxed.owl Hamann Zanki schimrigk syndrome|spasticity multiple exostoses|multiple exostoses with spastic tetraparesis GARD:0000291|OMIM:158345|MESH:C563566|UMLS:C1834724 owl:Class UBERON:0004995 biolink:NamedThing mucosa of body of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22160 biolink:NamedThing acetamides Compounds with the general formula RNHC(=O)CH3. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020735 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 1 tmpte7i6ely_mondo_relaxed.owl ACTH-independent macronodular adrenocortical hyperplasia|Cushing syndrome, adrenal, due to AIMAH|AIMAH1|ACTH-independent macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111623|Orphanet:189427|OMIM:219080|UMLS:C1857451 owl:Class MONDO:0007080 biolink:NamedThing glucocorticoid-remediable aldosteronism Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. tmpte7i6ely_mondo_relaxed.owl HALD1|FH 1|familial hyperaldosteronism type 1|glucocorticoid-remediable aldosteronism|dexamethasone-sensitive hypertension|glucocorticoid sensitive hypertension|dexamethasone sensitive hypertension|hyperaldosteronism, familial, type I|FH-I|aldosteronism, sensitive to dexamethasone|GRA|glucocorticoid-suppressible hyperaldosteronism|glucocorticoid-sensitive hypertension|hyperaldosteronism, familial type 1|familial hyperaldosteronism type I|FH1|ACTH-dependent hyperaldosteronism syndrome|hyperaldosteronism, familial, type 1 NCIT:C123248|DOID:14080|ICD9:255.11|MESH:C563177|ICD10:E26.02|GARD:0002790|Orphanet:403|UMLS:C1260386|ICD10:E26.0|OMIM:103900|UMLS:C3838731 https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism owl:Class MONDO:0016525 biolink:NamedThing familial hyperaldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. tmpte7i6ely_mondo_relaxed.owl genetic hyperaldosteronism|FH|hereditary hyperaldosteronism MESH:C580087|Orphanet:371861|UMLS:C3713420|ICD10:E26.0|SCTID:703231005|OMIMPS:103900|UMLS:CN229602|NCIT:C127160|Orphanet:235936 owl:Class MONDO:0013623 biolink:NamedThing platelet-type bleeding disorder 11 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. tmpte7i6ely_mondo_relaxed.owl GP6 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in GP6|glycoprotein 6 deficiency|platelet-type bleeding disorder-11|bleeding diathesis due to glycoprotein VI deficiency|bleeding disorder, platelet-type, 11|GP VI deficiency|BDPLT11|platelet-type bleeding disorder 11|GP 6 deficiency|glycoprotein VI deficiency GARD:0013293|DOID:0111057|SCTID:765977002|ICD10:D69.8|Orphanet:73271|UMLS:C3280120|Orphanet:98885|OMIM:614201 owl:Class MONDO:0001180 biolink:NamedThing bullous keratopathy Keratopathy that is characterized by the presence of epithelial bullae. tmpte7i6ely_mondo_relaxed.owl SCTID:57207003|UMLS:C0155111|DOID:11031|ICD9:371.23|NCIT:C26970|ICD10:H18.1 owl:Class MONDO:0002261 biolink:NamedThing keratopathy Any disorder of the cornea. tmpte7i6ely_mondo_relaxed.owl NCIT:C27012|DOID:2283|UMLS:C0235270 owl:Class MONDO:0010143 biolink:NamedThing lethal restrictive dermopathy Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. tmpte7i6ely_mondo_relaxed.owl restrictive dermopathy, lethal|lethal restrictive dermopathy|hyperkeratosis-contracture syndrome|fetal hypokinesia sequence due to restrictive dermopathy|tight skin contracture syndrome, lethal|restrictive dermopathy|tight skin contracture syndrome SCTID:400128006|DOID:0060762|UMLS:C0406585|OMIM:275210|Orphanet:1662|MESH:C536920|ICD10:Q82.8|GARD:0001516 owl:Class GO:0098976 biolink:NamedThing excitatory chemical synaptic transmission Synaptic transmission that results in an excitatory postsynaptic potential. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033534 biolink:NamedThing combined oxidative phosphorylation deficiency 46 tmpte7i6ely_mondo_relaxed.owl COXPD46|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 OMIM:618952 owl:Class CL:0000806 biolink:NamedThing DN2 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. tmpte7i6ely_mondo_relaxed.owl double negative 2|DN2 alpha-beta immature T-lymphocyte|TN2 cell|DN2 cell|preT.DN2.Th|DN2 immature T cell|TN2 thymocyte|DN2 alpha-beta immature T-cell|DN2 alpha-beta immature T lymphocyte Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. cell owl:Class MONDO:0012378 biolink:NamedThing fibromatosis, gingival, 3 tmpte7i6ely_mondo_relaxed.owl GINGF3|fibromatosis, gingival, hereditary, 3|gingival fibromatosis, 3|GGF3|fibromatosis, gingival, 3|hereditary gingival fibromatosis, 3|fibromatosis gingival, hereditary, 3|HGF3 OMIM:609955|MESH:C537928|Orphanet:2024|GARD:0009911 owl:Class MONDO:0016868 biolink:NamedThing partial deletion of chromosome 3 tmpte7i6ely_mondo_relaxed.owl partial deletion of chromosome type 3|partial monosomy of chromosome 3 Orphanet:261776|ICD10:Q93.5 owl:Class MONDO:0014277 biolink:NamedThing developmental dysplasia of the hip 2 tmpte7i6ely_mondo_relaxed.owl developmental dysplasia of the hip 2|DDH2 OMIM:615612|UMLS:C3715079 owl:Class MONDO:0000158 biolink:NamedThing developmental dysplasia of the hip A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. tmpte7i6ely_mondo_relaxed.owl dysplasia of acetabulum|congenital dysplasia of the hip|congenital hip dysplasia|congenital acetabular dysplasia EFO:1000648|SCTID:52781008|OMIMPS:142700|NCIT:C119752|UMLS:C1840555|ICD9:755.63|MESH:D006618 owl:Class UBERON:0003427 biolink:NamedThing abdominal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015126 biolink:NamedThing polyendocrinopathy tmpte7i6ely_mondo_relaxed.owl ICD10:E31.0|Orphanet:101956|ICD10:E31.8|ICD10:E31.1|ICD10:E31.9 owl:Class MONDO:0032787 biolink:NamedThing holoprosencephaly 12 with or without pancreatic agenesis tmpte7i6ely_mondo_relaxed.owl HPE12|HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS OMIM:618500 owl:Class MONDO:0016557 biolink:NamedThing leukonychia totalis Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. tmpte7i6ely_mondo_relaxed.owl total leukonychia|hereditary white nails GARD:0009759|ICD10:Q84.4|MESH:C535889|Orphanet:2387|SCTID:763792009|OMIM:151600 owl:Class MONDO:0008216 biolink:NamedThing pelvic lipomatosis with crossed renal ectopia tmpte7i6ely_mondo_relaxed.owl pelvic lipomatosis with crossed renal ectopia UMLS:C1868511|MESH:C566812|OMIM:169545 owl:Class MONDO:0003868 biolink:NamedThing anterior foramen magnum meningioma A meningioma that affects the anterior foramen magnum. tmpte7i6ely_mondo_relaxed.owl meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum NCIT:C5281|UMLS:C1332302|DOID:6381 owl:Class MONDO:0003109 biolink:NamedThing foramen magnum meningioma A meningioma that affects the foramen magnum. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of foramen magnum|foramen magnum meningioma (disease)|meningioma of Foramen magnum|meningioma of the Foramen magnum DOID:4708|UMLS:C1333630|NCIT:C5280 owl:Class MONDO:0017737 biolink:NamedThing intermediate severe Salla disease tmpte7i6ely_mondo_relaxed.owl Intermediate Salla disease UMLS:CN203640|GARD:0010871|Orphanet:309331|ICD10:E77.8 https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease owl:Class MONDO:0013735 biolink:NamedThing microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. tmpte7i6ely_mondo_relaxed.owl microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|Zaki-Gleeson syndrome|microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|MCHCCD Orphanet:329332|UMLS:C3280692|OMIM:614407 owl:Class MONDO:0017331 biolink:NamedThing Pilotto syndrome Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. tmpte7i6ely_mondo_relaxed.owl cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability|cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation Orphanet:2894|MESH:C537400|GARD:0004368|UMLS:C2931484 https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome owl:Class CHEBI:38196 biolink:NamedThing hydroxymethylpyridine Any member of the class of pyridines carrying a hydroxymethyl substituent at unspecified position. tmpte7i6ely_mondo_relaxed.owl hydroxymethylpyridines owl:Class MONDO:0011855 biolink:NamedThing granular corneal dystrophy type II Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. tmpte7i6ely_mondo_relaxed.owl granular corneal dystrophy type 2|CGD2|granular corneal dystrophy, type 2|GCD2|granular and lattice corneal dystrophies|CDA|GCDII|corneal dystrophy, AVELLINO type|corneal dystrophy Avellino type|avellino corneal dystrophy|granular-lattice corneal dystrophy|ACD|granular-lattice (Avellino) corneal dystrophy|combined granular-lattice corneal dystrophies|Avellino corneal dystrophy|combined granular-lattice corneal dystrophy Orphanet:98963|DOID:0060444|UMLS:C1275685|OMIM:607541|MESH:C535474|ICD10:H18.5|GARD:0009278|SCTID:397568004|ICD9:371.56 owl:Class MONDO:0010127 biolink:NamedThing thymoma, familial An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl thymic neoplasia|thymoma, familial|hereditary thymoma (disease) MESH:C564767|UMLS:C1848814|OMIM:274230|Orphanet:99867 owl:Class HGNC:870 biolink:NamedThing ATP7B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0010512 biolink:NamedThing negative regulation of phosphatidylinositol biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004039 biolink:NamedThing papillary extrahepatic bile duct adenocarcinoma tmpte7i6ely_mondo_relaxed.owl DOID:6931 owl:Class MONDO:0017325 biolink:NamedThing early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. tmpte7i6ely_mondo_relaxed.owl early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ICD10:E72.1|Orphanet:289266 owl:Class HGNC:14857 biolink:NamedThing COG5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001307 biolink:NamedThing corneal abscess An abscess of the cornea. tmpte7i6ely_mondo_relaxed.owl SCTID:64366002|ICD10:H16.31|NCIT:C26969|DOID:11543|UMLS:C0155091|ICD9:370.55 Editor note: consider placing in HPO owl:Class HGNC:8067 biolink:NamedThing NUP88 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017448 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb tmpte7i6ely_mondo_relaxed.owl digits 2-5 oligodactyly|digits 2-5 hypodactyly ICD10:Q71.3|OMIM:102650|Orphanet:294990 owl:Class MONDO:0017422 biolink:NamedThing adactyly of hand tmpte7i6ely_mondo_relaxed.owl fingers absent ICD10:Q71.3|Orphanet:294931 owl:Class UBERON:0014455 biolink:NamedThing subcutaneous abdominal adipose tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000331 biolink:NamedThing ileal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011382 biolink:NamedThing sickle cell anemia Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. tmpte7i6ely_mondo_relaxed.owl Hemoglobin S disease without crisis|drepanocytosis|sickle cell disease|sickling disorder due to Hemoglobin S|Hemoglobin S disease|Hb SC disease|Hb-S/Hb-C disease|HbS disease|sickle cell anemia|Hb-SS disease without crisis|sickle-cell/Hb-C disease without crisis|hemoglobin SC disease ICD10:D57.2|NCIT:C34383|ICD10:D57|MedDRA:10040641|OMIM:603903|MESH:D000755|ICD9:282.6|ICD10:D57.20|EFO:1001797|GARD:0008614|Orphanet:232|ICD10:D57.0|UMLS:C0002895|DOID:10923|ICD9:282.60|ICD9:282.63|ICD10:D57.1 owl:Class MONDO:0005297 biolink:NamedThing urethritis Inflammation of the urethra. tmpte7i6ely_mondo_relaxed.owl Nongonococcal urethritis|inflammation of urethra|urethritis (disease)|urethra inflammation|urethritis|non-gonococcal urethritis urethritis (disease) SCTID:84619001|DOID:1343|EFO:0003878|NCIT:C26904|HP:0500006|ICD10:N34.2|MESH:D014526|ICD9:597.80|ICD9:099.40 owl:Class MONDO:0034212 biolink:NamedThing methotrexate toxicity tmpte7i6ely_mondo_relaxed.owl Orphanet:565782 owl:Class HGNC:4612 biolink:NamedThing GSC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014750 biolink:NamedThing primary ciliary dyskinesia 33 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|ciliary dyskinesia, primary, 33, without situs inversus|primary ciliary dyskinesia caused by mutation in GAS8|ciliary dyskinesia, primary, type 33|ciliary dyskinesia, primary, 33|primary ciliary dyskinesia 33 without situs inversus|CILD33 ICD10:Q34.8|DOID:0110619|OMIM:616726|UMLS:C4225230 owl:Class MONDO:0001586 biolink:NamedThing mucopolysaccharidosis type 1 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). tmpte7i6ely_mondo_relaxed.owl MPS I|mucopolysaccharidosis type 1|Hurler syndrome (subtype)|severe MPS I (subtype, also known as Hurler syndrome)|mucopolysaccharidosis, MPS-I|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|lipochondrodystrophy|MPS 1|Alpha-L-iduronidase deficiency|iduronidase deficiency disease|mucopolysaccharidosis type I|Hurler syndrome|IDUA deficiency|MPSI|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|mucopolysaccharidosis I|mucopolysaccharidosis, type 1|MPS I - Hurler syndrome|MPS1|Hurler-Scheie syndrome (subtype) MedDRA:10056886|GARD:0010335|ICD10:E76.0|OMIM:607015|OMIM:607016|SCTID:75610003|Orphanet:579|NCIT:C85053|OMIM:607014|DOID:12802 owl:Class MONDO:0017684 biolink:NamedThing disorder of beta and omega amino acid metabolism tmpte7i6ely_mondo_relaxed.owl Orphanet:308407|ICD9:270.8|SCTID:237940008|UMLS:C0342707 owl:Class MONDO:0030061 biolink:NamedThing periventricular nodular heterotopia 9 tmpte7i6ely_mondo_relaxed.owl PERIVENTRICULAR NODULAR HETEROTOPIA 9|periventricular nodular heterotopia 9|PVNH9 OMIM:618918 owl:Class MONDO:0020341 biolink:NamedThing periventricular nodular heterotopia Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. tmpte7i6ely_mondo_relaxed.owl periventricular nodular heterotopia|periventricular heterotopia OMIM:612881|SCTID:448227009|DOID:0050454|Orphanet:98892|OMIM:615544|GARD:0012724|OMIM:608097|OMIM:608098|UMLS:C1868720|ICD10:Q04.8|MESH:D054091|MedDRA:10066854|OMIMPS:300049|OMIM:300049|OMIM:617201 owl:Class MONDO:0100265 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene. tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0044782 biolink:NamedThing cilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpte7i6ely_mondo_relaxed.owl microtubule-based flagellum organization owl:Class MONDO:0010775 biolink:NamedThing retinitis pigmentosa-deafness syndrome An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 21, formerly|retinitis pigmentosa 8|retinitis pigmentosa 8, formerly|RP21, formerly|RP8, formerly|retinitis pigmentosa-deafness syndrome|retinitis pigmentosa 21 UMLS:C0271097|OMIM:500004|SCTID:57838006|Orphanet:886|UMLS:C1568248|ICD10:H35.5|GARD:0004684|Orphanet:231183|DOID:0110829|UMLS:CN033130 Editor note: check relationship to Usher 3 from ORDO https://github.com/monarch-initiative/mondo/issues/551 owl:Class HGNC:10889 biolink:NamedThing SIX3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030809 biolink:NamedThing negative regulation of nucleotide biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpte7i6ely_mondo_relaxed.owl down regulation of nucleotide biosynthetic process|negative regulation of nucleotide synthesis|negative regulation of nucleotide anabolism|inhibition of nucleotide biosynthetic process|downregulation of nucleotide biosynthetic process|negative regulation of nucleotide formation|negative regulation of nucleotide biosynthesis|down-regulation of nucleotide biosynthetic process owl:Class CHEBI:36277 biolink:NamedThing bile acid salt A salt of a bile acid. tmpte7i6ely_mondo_relaxed.owl bile acid salts owl:Class CHEBI:24868 biolink:NamedThing organic salt tmpte7i6ely_mondo_relaxed.owl organic salts|organisches Salz owl:Class MONDO:0001262 biolink:NamedThing African histoplasmosis An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii. tmpte7i6ely_mondo_relaxed.owl infection by Histoplasma duboisii|African histoplasmosis|Histoplasma capsulatum var. duboisii infectious disease|large form histoplasmosis|Histoplasma capsulatum var. duboisii disease or disorder|Histoplasma duboisii infection|Histoplasma capsulatum var. duboisii caused disease or disorder UMLS:C0220977|SCTID:78511005|DOID:11315|ICD9:115.10 owl:Class MONDO:0014370 biolink:NamedThing pontocerebellar hypoplasia type 2E Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene. tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia type 2E|PCH2E|pontocerebellar hypoplasia, type 2E|VPS53 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53 Orphanet:247198|UMLS:C4014488|OMIM:615851|DOID:0060271 owl:Class MONDO:0016589 biolink:NamedThing progressive cerebello-cerebral atrophy tmpte7i6ely_mondo_relaxed.owl PCCA OMIM:615851|Orphanet:247198 owl:Class MONDO:0044797 biolink:NamedThing desmoplastic nevus A benign melanocytic nevus characterized by the presence of desmoplastic stroma. tmpte7i6ely_mondo_relaxed.owl Desmoplastic Nevus UMLS:C0346098|NCIT:C4497 owl:Class HGNC:3026 biolink:NamedThing DRD5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007691 biolink:NamedThing gustatory pore tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:33340 biolink:NamedThing Neoptera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7496 biolink:NamedThing Pterygota tmpte7i6ely_mondo_relaxed.owl winged insects|Pterygota GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019170 biolink:NamedThing polyarteritis nodosa Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. tmpte7i6ely_mondo_relaxed.owl classic polyarteritis nodosa|polyarteritis|periarteritis|Küssmaul-Maier disease|polyarteritis nodosa|panarteritis nodosa|PAN|classical polyarteritis nodosa|periarteritis nodosa ICD10:M30.0|ICD9:446.0|MedDRA:10036024|NCIT:C26847|GARD:0007360|Orphanet:767|UMLS:C0031036|MESH:D010488|SCTID:155441006|DOID:9810 owl:Class MONDO:0023599 biolink:NamedThing mesomelic dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). tmpte7i6ely_mondo_relaxed.owl Mesomelic Dysplasia|mesomelic dysplasia|Mesomelic dwarf|mesomelic dysplasias|Mesomelic dysplasia UMLS:C0410536|NCIT:C121156|SCTID:205473008 owl:Class MONDO:0015109 biolink:NamedThing congenital anomaly of the mitral subvalvular apparatus tmpte7i6ely_mondo_relaxed.owl Orphanet:101932|ICD10:Q23.8 owl:Class MONDO:0019817 biolink:NamedThing congenital mitral valve insufficiency and/or stenosis tmpte7i6ely_mondo_relaxed.owl ICD10:Q23|ICD10:Q23.2|ICD10:Q23.3|Orphanet:95464 owl:Class MONDO:0003948 biolink:NamedThing cerebral hemangioma A hemangioma arising from the cerebral hemisphere. tmpte7i6ely_mondo_relaxed.owl cerebral angioma|hemangioma of cerebral hemispheres|angioma of the cerebrum|hemangioma of the cerebrum|cerebral hemispheric angioma|hemangioma of telencephalon|cerebral hemispheric hemangioma|hemangioma of cerebrum|telencephalon hemangioma|angioma of the cerebral hemispheres|cerebral hemangioma|angioma of cerebral hemispheres|hemangioma of the cerebral hemispheres|angioma of cerebrum DOID:6621|UMLS:C0877388|NCIT:C5433 owl:Class NCBITaxon:12083 biolink:NamedThing Human poliovirus 2 tmpte7i6ely_mondo_relaxed.owl HPV-2|Poliovirus 2|Human Poliovirus type 2|Poliovirus type 2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000503 biolink:NamedThing lung adenocarcinoma in situ A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion. tmpte7i6ely_mondo_relaxed.owl stage 0 adenosquamous lung carcinoma aJCC v6|stage 0 adenosquamous cell carcinoma of lung|in situ pulmonary adenocarcinoma|bronchioloalveolar carcinoma|adenosquamous cell carcinoma in situ of the lung|lung adenocarcinoma In situ|stage 0 adenosquamous lung cancer|stage 0 adenosquamous cell lung carcinoma|stage 0 adenosquamous lung carcinoma aJCC v7|lung adenosquamous cell carcinoma in situ|bronchioalveolar carcinoma|stage 0 adenosquamous cell carcinoma of the lung|adenosquamous cell carcinoma in situ of lung|stage 0 adenosquamous lung carcinoma aJCC v6 and v7 ONCOTREE:LAIS|DOID:0050870|NCIT:C136486|UMLS:C0854971 Editor note: check why NCIT has two classes owl:Class CL:0002200 biolink:NamedThing oxyphil cell of thyroid An oncocyte located in the thyroid. tmpte7i6ely_mondo_relaxed.owl Hurthle cells|Askanazy cells FMA:87169 tmeehan 2010-09-02T11:33:26Z cell owl:Class CL:0002198 biolink:NamedThing oncocyte A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands. tmpte7i6ely_mondo_relaxed.owl oxyphil FMA:67606 tmeehan 2010-09-02T11:26:49Z cell owl:Class UBERON:0036375 biolink:NamedThing wall of right ureter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001000 biolink:NamedThing mixed mineral dust pneumoconiosis Pneumoconiosis caused by the inhalation of mixed mineral dust particles. tmpte7i6ely_mondo_relaxed.owl mineral duct pneumoconiosis|pneumoconiosis from mineral dust|mixed mineral dust pneumoconiosis|mineral dust pneumoconiosis UMLS:C0340184|SCTID:233759002|DOID:10319|NCIT:C27559|ICD9:503 owl:Class MONDO:0020391 biolink:NamedThing pulmonary artery coming from the aorta Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life. tmpte7i6ely_mondo_relaxed.owl hemitruncus arteriosus|abnormal origin of right or left pulmonary artery from the aorta GARD:0004586|Orphanet:99050|ICD10:Q25.7 https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta owl:Class FOODON:00001180 biolink:NamedThing prepared food product Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. tmpte7i6ely_mondo_relaxed.owl prepared owl:Class UBERON:0007128 biolink:NamedThing glomeral mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1485168 biolink:NamedThing Longamoebia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:555280 biolink:NamedThing Discosea tmpte7i6ely_mondo_relaxed.owl Flabellinea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003897 biolink:NamedThing breast epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast. tmpte7i6ely_mondo_relaxed.owl histiocytoid hemangioma of the breast|breast histiocytoid hemangioma|histiocytoid breast hemangioma|epithelioid breast hemangioma|histiocytoid hemangioma of breast|breast epithelioid hemangioma|epithelioid hemangioma of breast|epithelioid hemangioma of the breast UMLS:C1332627|DOID:6492|NCIT:C5211 owl:Class MONDO:0017771 biolink:NamedThing Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). tmpte7i6ely_mondo_relaxed.owl MRKH|MRKH syndrome|Rokitansky syndrome|Mullerian aplasia/dysgenesis|Mayer-Rokitansky-Küster-Hauser syndrome ICD10:Q51.8|OMIM:601076|MedDRA:10065148|NCIT:C124853|Orphanet:3109|OMIM:277000 owl:Class MONDO:0015830 biolink:NamedThing partial bilateral aplasia of the mullerian ducts tmpte7i6ely_mondo_relaxed.owl partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts|incomplete bilateral aplasia of the Müllerian ducts ICD10:Q51.8|Orphanet:180068 owl:Class MONDO:0009872 biolink:NamedThing Bjornstad syndrome Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome. tmpte7i6ely_mondo_relaxed.owl PTD|pili torti-sensorineural hearing loss|deafness and pili torti, Bjornstad type|PTND|deafness-pili torti-hypogonadism syndrome|pili torti and nerve deafness|Bjornstad syndrome|BJS|BJörnstad syndrome OMIM:262000|EFO:0002779|DOID:0050677|Orphanet:123|MESH:C537633|GARD:0000022|UMLS:C0266006 https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome owl:Class GO:0002714 biolink:NamedThing positive regulation of B cell mediated immunity Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl positive regulation of B-lymphocyte mediated immunity|upregulation of B cell mediated immunity|activation of B cell mediated immunity|positive regulation of B lymphocyte mediated immunity|up regulation of B cell mediated immunity|up-regulation of B cell mediated immunity|positive regulation of B-cell mediated immunity|stimulation of B cell mediated immunity owl:Class GO:0002712 biolink:NamedThing regulation of B cell mediated immunity Any process that modulates the frequency, rate, or extent of B cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl regulation of B-lymphocyte mediated immunity|regulation of B-cell mediated immunity|regulation of B lymphocyte mediated immunity owl:Class MONDO:0009836 biolink:NamedThing pancreatitis, sclerosing cholangitis, and sicca complex tmpte7i6ely_mondo_relaxed.owl pancreatitis, sclerosing cholangitis, and sicca complex UMLS:C1850080|MESH:C564906|OMIM:260480 owl:Class MONDO:0019152 biolink:NamedThing Oguchi disease Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon. tmpte7i6ely_mondo_relaxed.owl Oguchi syndrome|congenital stationary night blindness, Oguchi type|Oguchi disease|stationary night blindness, Oguchi type OMIM:258100|OMIM:613411|MESH:C537743|GARD:0010118|Orphanet:75382|ICD10:H53.6 https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease owl:Class MONDO:0009782 biolink:NamedThing ophthalmoplegia totalis with ptosis and miosis tmpte7i6ely_mondo_relaxed.owl ophthalmoplegia totalis with ptosis and miosis MESH:C564927|UMLS:C1850314|OMIM:258400 owl:Class MONDO:0020412 biolink:NamedThing congenital patent ductus arteriosus aneurysm Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. tmpte7i6ely_mondo_relaxed.owl Orphanet:99072|SCTID:763316006|ICD10:Q25.8 owl:Class GO:0046483 biolink:NamedThing heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpte7i6ely_mondo_relaxed.owl heterocycle metabolism owl:Class MONDO:0017587 biolink:NamedThing onychomatricoma A neoplasm involving a UBERON:0002283. tmpte7i6ely_mondo_relaxed.owl nail matrix tumor|neoplasm of nail matrix|tumor of nail matrix|nail matrix neoplasm Orphanet:300512|UMLS:CN203393 owl:Class NCBITaxon:7174 biolink:NamedThing Culex tmpte7i6ely_mondo_relaxed.owl Culex GC_ID:1 NCBITaxon:44555 ncbi_taxonomy owl:Class MONDO:0018577 biolink:NamedThing pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa tmpte7i6ely_mondo_relaxed.owl PXE-like syndrome with retinitis pigmentosa Orphanet:436274|ICD10:Q82.8|UMLS:CN237597 owl:Class MONDO:0008289 biolink:NamedThing brain small vessel disease 1 with or without ocular anomalies Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. tmpte7i6ely_mondo_relaxed.owl T1P|porencephaly type 1|BSVD1|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|brain small vessel disease with Axenfeld-Riegar anomaly|porencephaly caused by mutation in COL4A1|hemiplegia, infantile, with porencephaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|brain small vessel disease with or without ocular anomalies|POREN1|hemiplegia, infantile, with porencephaly porencephaly, type 1|porencephaly 1|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|leukoencephalopathy with axenfeld-rieger anomaly|COL4A1-related brain small vessel disease with hemorrhage|infantile hemiparesis|COL4A1 porencephaly|COL4A1-related familial vascular leukoencephalopathy|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|porencephaly, type 1, autosomal dominant|ADT1P|BSVD Orphanet:36383|Orphanet:2940|OMIM:607595|Orphanet:99810|MESH:C531642|UMLS:CN032791|MESH:C564372|DOID:0090125|ICD10:I67.3|OMIM:175780 owl:Class UBERON:0015485 biolink:NamedThing choledocho-duodenal junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017073 biolink:NamedThing cervical spina bifida cystica tmpte7i6ely_mondo_relaxed.owl Orphanet:268762 owl:Class MONDO:0019773 biolink:NamedThing myelomeningocele Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. tmpte7i6ely_mondo_relaxed.owl meningomyelocele EFO:1001369|SCTID:414667000|DOID:0060326|HP:0002475|Orphanet:93969|ICD10:Q05.2|ICD10:Q05|ICD10:Q05.4|ICD10:Q05.0|ICD10:Q05.5|SCTID:203994003|MESH:D008591|ICD10:Q05.3|GARD:0003475|ICD10:Q05.8|NCIT:C101201|ICD10:Q05.9|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.1 https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele owl:Class MONDO:0060550 biolink:NamedThing polydactyly, postaxial, type a7 tmpte7i6ely_mondo_relaxed.owl PAPA7|polydactyly, postaxial, type A7 OMIM:617642 owl:Class HGNC:13830 biolink:NamedThing CNTNAP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056797 biolink:NamedThing neurodevelopmental disorder with midbrain and hindbrain malformations tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with midbrain and hindbrain malformations|NEDMHM UMLS:C4479613|DOID:0080312|OMIM:617523 owl:Class MONDO:0000345 biolink:NamedThing Oropouche fever A disease caused by infection with Oropouche virus. tmpte7i6ely_mondo_relaxed.owl Oropouche virus infectious disease|Oropouche virus caused disease or disorder|Oropouche virus disease or disorder MEDGEN:547314|DOID:0050521|SCTID:72880002|UMLS:C0276386 owl:Class HGNC:30664 biolink:NamedThing CLPB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000875 biolink:NamedThing adult acute monocytic leukemia A acute monocytic leukemia that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl M5b adult acute differentiated monocytic leukemia|adult acute monocytic leukemia|M5b adult acute leukemia|acute monocytic leukemia of adults|acute monocytic leukemia|adult acute differentiated monocytic leukemia (M5b) UMLS:C0280634|DOID:0080149|NCIT:C8263 owl:Class MONDO:0001690 biolink:NamedThing parasitic conjunctivitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0155148|SCTID:13816006|DOID:13341|ICD9:372.15 owl:Class MONDO:0019916 biolink:NamedThing maternal uniparental disomy of chromosome 16 tmpte7i6ely_mondo_relaxed.owl UPD(16)mat|maternal uniparental disomy of chromosome type 16 ICD10:Q99.8|Orphanet:96185 owl:Class MONDO:0021050 biolink:NamedThing vaginal neoplasm A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. tmpte7i6ely_mondo_relaxed.owl vagina neoplasm|tumor of the vagina|vagina neoplasm (disease)|vaginal tumor|vagina tumor|neoplasm of vagina|vaginal neoplasm|neoplasm of the vagina|tumor of vagina ICD9:239.5|EFO:1001447|SCTID:126921000|NCIT:C3437|ONCOTREE:VULVA Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva owl:Class UBERON:0002008 biolink:NamedThing cardiac nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020532 biolink:NamedThing spirillary rat-bite fever Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. tmpte7i6ely_mondo_relaxed.owl sodoku disease|spirillosis|Spirillary fever|sodoku SCTID:19044004|MESH:D011906|Orphanet:99903|ICD10:A25.0|ICD9:026.0|DOID:12096 owl:Class CL:0009032 biolink:NamedThing B cell of appendix A B cell that is located in a vermiform appendix. tmpte7i6ely_mondo_relaxed.owl appendix B cell|B cell of vermiform appendix|B cell of appendix vermiformis owl:Class MONDO:0005740 biolink:NamedThing Echovirus infectious disease Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. tmpte7i6ely_mondo_relaxed.owl Echovirus caused disease or disorder|Echovirus disease or disorder|echo Virus infections|echo Virus infection|Echovirus infection|infections, echo Virus|infection, echo Virus|infections, Echovirus|infection, Echovirus UMLS:C0013533|EFO:0007247|MESH:D004457|SCTID:271532008 owl:Class MONDO:0009103 biolink:NamedThing diaphragmatic hernia 2 tmpte7i6ely_mondo_relaxed.owl DIH2|diaphragmatic hernia 2 MESH:C565629|OMIM:222400|Orphanet:2140 owl:Class MONDO:0005711 biolink:NamedThing congenital diaphragmatic hernia Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. tmpte7i6ely_mondo_relaxed.owl unilateral agenesis of diaphragm|congenital diaphragmatic defect|CDH|diaphragmatic hernia|congenital diaphragmatic hernia|agenesis of hemidiaphragm EFO:0007216|UMLS:C0235833|OMIM:222400|GARD:0001481|DOID:3827|OMIM:306950|Orphanet:2140|OMIM:142340|ICD10:Q79.0|ICD10:K44|ICD10:K44.9|NCIT:C98893|MedDRA:10010439|OMIM:610187 owl:Class MONDO:0014227 biolink:NamedThing hypopigmentation-punctate palmoplantar keratoderma syndrome tmpte7i6ely_mondo_relaxed.owl guttate hypopigmentation and punctate palmoplantar keratoderma|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification|punctate palmoplantar keratoderma with or without ectopic calcification|COLE disease|guttate hypopigmentation|COLED|hypopigmentation and punctate keratosis of the palms and soles|Cole disease ICD9:757.39|Orphanet:324561|ICD10:Q82.8|UMLS:C3809781|GARD:0012384|OMIM:615522|SCTID:711154007 owl:Class MONDO:0008983 biolink:NamedThing chromosomal instability with tissue-specific radiosensitivity tmpte7i6ely_mondo_relaxed.owl chromosomal instability with tissue-specific radiosensitivity MESH:C565848|OMIM:215510 owl:Class MONDO:0017672 biolink:NamedThing focal palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl focal keratosis palmoplantaris|focal PPK|focal palmoplantar hyperkeratosis Orphanet:307837|ICD10:Q82.8 owl:Class MONDO:0017233 biolink:NamedThing familial Alzheimer-like prion disease tmpte7i6ely_mondo_relaxed.owl ICD10:A81.8|SCTID:721219005|UMLS:C4303482|UMLS:CN202723|Orphanet:280397 owl:Class MONDO:0007839 biolink:NamedThing Aase-Smith syndrome Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. tmpte7i6ely_mondo_relaxed.owl Aase-Smith syndrome|Aase-Smith syndrome I|Aase-Smith syndrome 1|Aase-Smith syndrome type 1|Joint contractures with Other abnormalities|Aase-Smith I syndrome|hydrocephalus-cleft palate-joint contractures syndrome Orphanet:916|ICD10:Q87.8|UMLS:C0220686|MESH:C535332|GARD:0005642|SCTID:718576001|OMIM:147800|MedDRA:10063429 owl:Class MONDO:0019457 biolink:NamedThing therapy related acute myeloid leukemia and myelodysplastic syndrome An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl Secondary Acute myeloid Leukemia (AML)|Secondary Acute myelogenous Leukemia|therapy-related AML and myelodysplastic syndrome|Secondary AGL|Secondary Acute granulocytic Leukemia|Secondary Acute myelocytic Leukemia|secondary acute myeloid leukemia|Secondary Acute myeloblastic Leukemia|secondary AML SCTID:721306009|ICD10:C92.0|GARD:0012762|NCIT:C25765|Orphanet:86846|OMIM:601626 https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome owl:Class MONDO:0020848 biolink:NamedThing osteopetrosis, autosomal dominant 3 tmpte7i6ely_mondo_relaxed.owl OPTA3|OSTEOPETROSIS, autosomal dominant 3 OMIM:618107 owl:Class MONDO:0020645 biolink:NamedThing autosomal dominant osteopetrosis Autosomal dominant form of osteopetrosis (disease). tmpte7i6ely_mondo_relaxed.owl osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease)|OPTA UMLS:C4272579|OMIMPS:607634 owl:Class MONDO:0004352 biolink:NamedThing adult brain ependymoma An ependymoma of the brain occurring in adults. tmpte7i6ely_mondo_relaxed.owl brain ependymoma|adult brain ependymoma NCIT:C9372|DOID:7750|UMLS:C1332186 owl:Class MONDO:0004245 biolink:NamedThing ependymal tumor of brain A tumor arising from the ependymal lining of the ventricles. tmpte7i6ely_mondo_relaxed.owl brain ependymoma|brain ependymal tumor|ependymoma of brain|ependymal tumor of brain SCTID:254939008|UMLS:C0238029|NCIT:C3861|DOID:7497 owl:Class MONDO:0008825 biolink:NamedThing arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. tmpte7i6ely_mondo_relaxed.owl lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|arthrogryposis multiplex congenita whistling face|Illum syndrome|arthrogryposis, whistling face, and developintellectual disability|arthrogryposis, whistling face, and developmental retardation|ILLUM syndrome SCTID:720514008|MESH:C538401|Orphanet:1150|GARD:0000792|UMLS:C1859711|ICD10:Q87.8|OMIM:208155 owl:Class HGNC:775 biolink:NamedThing SERPINC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010258 biolink:NamedThing MEHMO syndrome MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic 20|mental retardation, X-linked, syndromic 25|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|syndromic X-linked intellectual disability 25|syndromic X-linked intellectual disability 20|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|intellectual disability, X-linked, syndromic 25|intellectual disability, X-linked, syndromic, Borck type|MRXSBRK|mental retardation, X-linked, syndromic, Borck type|MRXS25|X-linked MEHMO syndrome|MEHMO|MEHMO syndrome|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|syndromic X-linked mental retardation 20|intellectual disability, X-linked, syndromic 20|syndromic X-linked mental retardation 25|MRXS20 MESH:C537451|OMIM:300987|ICD10:Q87.8|DOID:0060801|SCTID:722037004|UMLS:C1846278|Orphanet:85282|OMIM:300148|UMLS:C4310813|GARD:0009178 owl:Class GO:0051153 biolink:NamedThing regulation of striated muscle cell differentiation Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900015 biolink:NamedThing regulation of cytokine production involved in inflammatory response Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. tmpte7i6ely_mondo_relaxed.owl regulation of cytokine production involved in acute inflammatory response owl:Class UBERON:0004851 biolink:NamedThing aorta endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1331 biolink:NamedThing C5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032830 biolink:NamedThing snijders blok-fisher syndrome tmpte7i6ely_mondo_relaxed.owl SNIBFIS|SNIJDERS BLOK-FISHER SYNDROME OMIM:618604 owl:Class MONDO:0008632 biolink:NamedThing urticaria, aquagenic Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. tmpte7i6ely_mondo_relaxed.owl aquagenic urticaria|urticaria, aquagenic UMLS:C0263334|ICD9:708.8|MESH:C562481|GARD:0010901|SCTID:89870006|OMIM:191850 https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria owl:Class MONDO:0043168 biolink:NamedThing panostotic fibrous dysplasia tmpte7i6ely_mondo_relaxed.owl unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia OMIM:174800|GARD:0004213|MESH:C537164|UMLS:C2931430 owl:Class MONDO:0009692 biolink:NamedThing primary myelofibrosis Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. tmpte7i6ely_mondo_relaxed.owl myelosclerosis with myeloid metaplasia|osteomyelofibrosis|Agnogenic myeloid metaplasia|CIMF|myelosclerosis|AMM|myeloid metaplasia|chronic idiopathic myelofibrosis|bone marrow fibrosis|myelofibrosis|aleukemic myelosis|idiopathic myelofibrosis|idiopathic bone marrow fibrosis|primary myelofibrosis|myelofibrosis with myeloid metaplasia|megakaryocytic myelosclerosis OMIM:254450|Orphanet:824|ONCOTREE:PMF|ICD9:289.83|ICDO:9961/3|UMLS:C0001815|NCIT:C2862|GARD:0008618|UMLS:C0948968|ICD9:238.76|ICD10:D47.4|DOID:4971|MESH:D055728|EFO:0002430|ICD10:D75.81|UMLS:C2355576 owl:Class MONDO:0005357 biolink:NamedThing Creutzfeldt Jacob disease A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. tmpte7i6ely_mondo_relaxed.owl CJD|Subacute spongiform encephalopathy|CJD (Creutzfeldt Jakob disease)|transmissible virus dementia|Creutzfeldt Jakob disease|Creutzfeldt-Jacob disease|classic Creutzfeldt-Jakob disease|Creutzfeldt Jacob syndrome|Creutzfeldt-Jakob disease|Jakob-Creutzfeldt disease GARD:0006956|ICD9:046.19|ICD10:A81.0|ICD10:A81.00|MESH:D007562|SCTID:792004|EFO:0004226|DOID:11949|NCIT:C26802|OMIM:123400|ICD9:046.1 owl:Class MONDO:0014349 biolink:NamedThing pontocerebellar hypoplasia type 10 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1|pontocerebellar hypoplasia, type 10|PCH10|CLP1 non-syndromic pontocerebellar hypoplasia|CLP1-related pontocerebellar hypoplasia ICD10:Q04.3|DOID:0060279|UMLS:C4014347|Orphanet:411493|OMIM:615803 owl:Class HP:0410043 biolink:NamedThing Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). tmpte7i6ely_mondo_relaxed.owl 2017-09-20 00:25:37+00:00 Fyler:4339 ORCID:0000-0001-5208-3432 human_phenotype owl:Class MONDO:0013759 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 8 An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. tmpte7i6ely_mondo_relaxed.owl melanoma and renal cell carcinoma, susceptibility to|susceptibility to cutaneous malignant melanoma 8|MITF-related melanoma and renal cell carcinoma predisposition syndrome|melanoma, cutaneous malignant, susceptibility to, 8|CMM8|melanoma, cutaneous malignant, susceptibility to, type 8 OMIM:614456|Orphanet:293822 owl:Class FOODON:03309823 biolink:NamedThing shrimp paste definition: Shrimp paste or shrimp sauce is a fermented condiment commonly used in Southeast Asian, Northeastern South Asian and Southern Chinese cuisines. tmpte7i6ely_mondo_relaxed.owl kapi ngapi terasi belacan belachan blachang mắm ruốc mắm tép mắm tôm bagoong alamang bagoong aramang haa1 zoeng3/haa1 gou1 hom ha/hae ko sidol|shrimp sauce SUBSET_SIREN:F9823 SIREN DB annotation: * has quality 'semisolid' (http://purl.obolibrary.org/obo/FOODON_03430144) * has quality 'not heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440003) * derives from 'whole animal or most parts used' (http://purl.obolibrary.org/obo/FOODON_03420173) * formed as a result of 'fermentation/modification process, multiple component' (http://purl.obolibrary.org/obo/FOODON_03460128) * formed as a result of 'water removal process' (http://purl.obolibrary.org/obo/FOODON_03460138) * formed as a result of 'salted' (http://purl.obolibrary.org/obo/FOODON_03460173) * formed as a result of 'preservation by fermentation' (http://purl.obolibrary.org/obo/FOODON_03470104) wikipedia:Shrimp_pastse Need to set languages of synonyms (japanese/thai ?) http://langual.org subset_siren http://orcid.org/0000-0002-1816-4260 owl:Class FOODON:00001054 biolink:NamedThing fermented fish or seafood food product tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11588 biolink:NamedThing Rift Valley fever virus tmpte7i6ely_mondo_relaxed.owl RVFV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009857 biolink:NamedThing persistent Mullerian duct syndrome Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. tmpte7i6ely_mondo_relaxed.owl persistent Müllerian derivatives|PMDS|pseudohermaphroditism, Male internal|persistent oviduct syndrome|persistent MULLERIAN duct syndrome, types I and II|female genital ducts in otherwise normal Male|hernia uteri inguinale|persistent Muellerian duct syndrome|female genital ducts in otherwise normal male|persistent Müllerian duct syndrome|persistent Mullerian duct syndrome|persistent Mullerian derivatives|persistent mullerian duct syndrome, types 1 and 2 MESH:C536665|Orphanet:2856|ICD10:Q55.8|GARD:0008435|SCTID:702358005|OMIM:261550|NCIT:C120188|UMLS:C1849930|DOID:0050791|ICD9:752.89 https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome owl:Class MONDO:0017969 biolink:NamedThing 46,XY disorder of sex development of endocrine origin tmpte7i6ely_mondo_relaxed.owl 46,XY DSD of endocrine origin Orphanet:325351|UMLS:CN227232 owl:Class GO:0032223 biolink:NamedThing negative regulation of synaptic transmission, cholinergic Any process that stops, prevents, or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpte7i6ely_mondo_relaxed.owl down regulation of synaptic transmission, cholinergic|inhibition of synaptic transmission, cholinergic|down-regulation of synaptic transmission, cholinergic|downregulation of synaptic transmission, cholinergic owl:Class MONDO:0006893 biolink:NamedThing Pasteurella hemorrhagic septicemia Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. tmpte7i6ely_mondo_relaxed.owl hemorrhagic bacteremia|septicemia, haemorrhagic|septicemia, hemorrhagic|bacteremia, hemorrhagic|bacteremia, haemorrhagic|haemorrhagic Septicaemia|hemorrhagic Septicaemia|Septicaemia, hemorrhagic|Septicaemia, haemorrhagic|haemorrhagic bacteremia|haemorrhagic septicemia SCTID:198462004|EFO:1001091|MESH:D006483 owl:Class MONDO:0001539 biolink:NamedThing retinal perforation A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. tmpte7i6ely_mondo_relaxed.owl retinal tear|retinal break|retinal dialysis MESH:D012167|DOID:12514|NCIT:C50732|SCTID:232003005|UMLS:C0035321 owl:Class MONDO:0014249 biolink:NamedThing multiple fibroadenoma of the breast Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. tmpte7i6ely_mondo_relaxed.owl mammary polyadenomatosis|MFAB|multiple fibroadenomas of the breast UMLS:C3809918|ICD10:D24|Orphanet:50920|OMIM:615554 owl:Class UBERON:0005106 biolink:NamedThing metanephric tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005108 biolink:NamedThing metanephric epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007033 biolink:NamedThing abducens nerve palsy Paralysis of the abducens nerve. tmpte7i6ely_mondo_relaxed.owl cranial mononeuropathy VI|VIth nerve disorder|6th nerve palsy|abducens nerve weakness|sixth cranial nerve disorder|sixth cranial nerve palsy|sixth nerve paralysis|abducens nerve disease|cranial nerve palsy of abducens nerve|abducens palsy|abducent nerve paralysis|lateral rectus muscle denervation paresis|VI nerve palsy|VIth nerve paralysis|disorder of abducent nerve|abducens nerve cranial nerve palsy|lateral rectus muscle innervation disorder|cranial nerve VI palsy|sixth nerve palsy|sixth or abducens nerve palsy NCIT:C27592|OMIM:100200|ICD9:378.54|GARD:0009482|DOID:10865|SCTID:398963001|ICD10:H49.2 owl:Class MONDO:0012040 biolink:NamedThing inflammatory bowel disease 9 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26. tmpte7i6ely_mondo_relaxed.owl IBD9|inflammatory bowel disease 9|inflammatory bowel disease type 9 OMIM:608448|MESH:C563926|DOID:0110886|UMLS:C1838019 owl:Class MONDO:0011368 biolink:NamedThing papillary thyroid Microcarcinoma A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population. tmpte7i6ely_mondo_relaxed.owl papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary Microcarcinoma of the thyroid gland|papillary Microcarcinoma of the thyroid|papillary thyroid gland Microcarcinoma NCIT:C46004|ICDO:8341/3|MESH:C563277|UMLS:C1709457|Orphanet:319487|OMIM:603744 owl:Class MONDO:0004160 biolink:NamedThing female stress incontinence The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. tmpte7i6ely_mondo_relaxed.owl stress incontinence - female|female urinary stress incontinence NCIT:C35042|DOID:724|UMLS:C0038437|ICD9:625.6 owl:Class MONDO:0024647 biolink:NamedThing urolithiasis Stone(s) within the urinary tract. tmpte7i6ely_mondo_relaxed.owl calculus|kidney stone|urinary stones|urolithiasis NCIT:C114688|DOID:0080653|ICD10:N21|SCTID:95566004|UMLS:C0451641 owl:Class GO:0097028 biolink:NamedThing dendritic cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017013 biolink:NamedThing trisomy 8p Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. tmpte7i6ely_mondo_relaxed.owl Duplication 8p|trisomy type 8p ICD10:Q92.2|MESH:C538019|Orphanet:264450 owl:Class MONDO:0016945 biolink:NamedThing partial duplication of the short arm of chromosome 8 Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl trisomy 8p|partial trisomy of the short arm of chromosome 8|8p trisomy|chromosome 8p duplication|partial duplication of chromosome 8p|partial trisomy 8p|Duplication 8p|partial duplication of the short arm of chromosome type 8|8p duplication|partial trisomy of chromosome 8p Orphanet:262758|GARD:0005361 owl:Class MONDO:0018446 biolink:NamedThing autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:G11.1|UMLS:CN226191|Orphanet:404481 owl:Class MONDO:0023757 biolink:NamedThing meralgia paresthetica Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms. tmpte7i6ely_mondo_relaxed.owl meralgia paraesthetica familial (type)|Bernhardt-Roth syndrome|compression of lateral cutaneous femoral nerve of thigh|bernhardt's paresthesia|lateral femoral cutaneous nerve entrapment|entrapment of lateral cutaneous nerve of thigh|bernhardt-rot syndrome|lateral cutaneous femoral nerve of thigh syndrome OMIM:156220|ICD9:355.1|GARD:0009417|SCTID:85007004|MESH:C537458|UMLS:C0152110 https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica owl:Class MONDO:0005231 biolink:NamedThing hepatitis C virus infection A viral infection caused by the hepatitis C virus. tmpte7i6ely_mondo_relaxed.owl non-A, non-B Hepatitis|Hepatitis C virus caused hepatitis|hepatitis Nona nonB|Hepatitis C virus hepatitis|hepatitis C infection|chronic hepatitis C|NANBH|hepatitis type C|viral hepatitis C SCTID:128302006|ICD10:B19.20|EFO:0003047|ICD9:070.54|ICD9:070.41|MESH:D019698|ICD9:070.7|UMLS:C0019196|NCIT:C3098|MESH:D006526|DOID:1883|ICD10:B19.2 owl:Class GO:2000272 biolink:NamedThing negative regulation of signaling receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity. tmpte7i6ely_mondo_relaxed.owl negative regulation of receptor activity|negative regulation of signalling receptor activity owl:Class GO:0010469 biolink:NamedThing regulation of signaling receptor activity Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. tmpte7i6ely_mondo_relaxed.owl regulation of signalling receptor activity|regulation of receptor activity owl:Class MONDO:0015277 biolink:NamedThing medullary thyroid gland carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. tmpte7i6ely_mondo_relaxed.owl thyroid gland medullary carcinoma|medullary carcinoma of the thyroid|medullary carcinoma of the thyroid gland|medullary thyroid gland carcinoma|MTC|thyroid gland neuroendocrine carcinoma|medullary thyroid cancer (MTC)|THME|medullary carcinoma of thyroid gland|carcinoma, C-cell, malignant|medullary carcinoma|medullary carcinoma of thyroid|ultimobranchial thyroid tumour|medullary thyroid carcinoma|parafollicular cell carcinoma|carcinoma of parafollicular cell|thyroid gland medullary cancer|C cell carcinoma|thyroid medullary carcinoma|thyroid carcinoma, medullary|ultimobranchial thyroid tumor|medullary thyroid cancer|thyroid cancer, medullary SCTID:255032005|NCIT:C3879|UMLS:C0238462|MedDRA:10027101|ICD10:C73|ONCOTREE:THME|DOID:3973|UMLS:C0206693|GARD:0007004|Orphanet:1332|HP:0002865 owl:Class MONDO:0008679 biolink:NamedThing Wilms tumor 1 tmpte7i6ely_mondo_relaxed.owl nephroblastoma|renal Wilms tumor|WT1|Wilms' tumor|Wilms tumor 1|Wilms tumor type 1 OMIM:194070|UMLS:CN033288|UMLS:C1333015|UMLS:C1332219|UMLS:C0027708|NCIT:C27730|NCIT:C3267|NCIT:C40407|MESH:D009396|NCIT:C6180|Orphanet:654 owl:Class NCBITaxon:337687 biolink:NamedThing Muroidea tmpte7i6ely_mondo_relaxed.owl PMID:15019624|PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019129 biolink:NamedThing global developmental delay-osteopenia-ectodermal defect syndrome This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. tmpte7i6ely_mondo_relaxed.owl Orphanet:73223|ICD10:Q87.8|UMLS:CN227576|SCTID:717813005 owl:Class MONDO:0017040 biolink:NamedThing exposure-related interstitial lung disease tmpte7i6ely_mondo_relaxed.owl Orphanet:264984|UMLS:CN202351 owl:Class MONDO:0700033 biolink:NamedThing complete trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0001052 biolink:NamedThing chronic fungal otitis externa Chronic form of otomycosis. tmpte7i6ely_mondo_relaxed.owl chronic mycotic otitis externa|chronic otomycosis|otomycosis, chronic UMLS:C0155396|SCTID:111898002|DOID:10519|ICD9:380.15 owl:Class MONDO:0008318 biolink:NamedThing Proteus syndrome Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. tmpte7i6ely_mondo_relaxed.owl partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Wiedemann's syndrome|Elattoproteus syndrome|hemihypertrophy and macrocephaly|Proteus syndrome|partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome Orphanet:744|NCIT:C85032|UMLS:C1867610|DOID:13482|GARD:0007475|ICD10:Q87.3|ICD9:759.89|SCTID:23150001|MESH:D016715|UMLS:C0085261|OMIM:176920 owl:Class MONDO:0017623 biolink:NamedThing PTEN hamartoma tumor syndrome A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. tmpte7i6ely_mondo_relaxed.owl PHTS|PTEN hamartoma tumor syndrome DOID:0080191|Orphanet:306498|SCTID:722859001|UMLS:C1959582|GARD:0012800 https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome owl:Class MONDO:0011821 biolink:NamedThing Meckel syndrome, type 3 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. tmpte7i6ely_mondo_relaxed.owl MKS3|Meckel-Gruber syndrome, type 3|TMEM67 Meckel syndrome|Meckel syndrome, type 3|Meckel syndrome caused by mutation in TMEM67|Meckel syndrome type 3|Meckel syndrome 3 GARD:0008744|UMLS:C1846357|MESH:C536132|Orphanet:564|OMIM:607361|DOID:0070117|ICD10:Q61.9 https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 owl:Class MONDO:0003731 biolink:NamedThing adult central nervous system teratoma A mature or immature teratoma affecting the central nervous system and occurring in adults. tmpte7i6ely_mondo_relaxed.owl teratoma of adult central nervous system|Central nervous system teratoma|teratoma of the adult CNS|central nervous system teratoma of adults|adult central nervous system teratoma|teratoma of the adult central nervous system|adult CNS teratoma|teratoma of adult CNS DOID:6015|NCIT:C5794|UMLS:C1370506 owl:Class MONDO:0003516 biolink:NamedThing adult teratoma A teratoma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl teratoma|teratoma of adults|adult teratoma UMLS:C1368898|NCIT:C9013|DOID:5565|UMLS:C1368888 owl:Class GO:0070161 biolink:NamedThing anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. tmpte7i6ely_mondo_relaxed.owl anchoring cell junction owl:Class CHEBI:25212 biolink:NamedThing metabolite Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. tmpte7i6ely_mondo_relaxed.owl metabolites|metabolite|primary metabolites|secondary metabolites owl:Class MONDO:0019753 biolink:NamedThing localized Castleman disease Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection. tmpte7i6ely_mondo_relaxed.owl localized Castleman disease|localized Angiofollicular lymphoid hyperplasia|Unicentric Castleman disease|Unicentric angiofollicular lymph hyperplasia|Unicentric angiofollicular ganglionic hyperplasia Orphanet:93685|UMLS:C3898582|ICD10:D36.0|UMLS:CN206685|GARD:0006005|NCIT:C115200 owl:Class UBERON:0004986 biolink:NamedThing mucosa of deferent duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025389 biolink:NamedThing brucellosis, bovine A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent. tmpte7i6ely_mondo_relaxed.owl disease, bang|Bangs disease|disease, bang's|bovine Brucelloses|bang disease|bovine brucellosis|Brucelloses, bovine|bang's disease MESH:D002007 owl:Class NCBITaxon:6934 biolink:NamedThing Parasitiformes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6933 biolink:NamedThing Acari tmpte7i6ely_mondo_relaxed.owl Acarina|mites & ticks|mites and ticks GC_ID:1 ncbi_taxonomy owl:Class HGNC:6944 biolink:NamedThing MCM2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903053 biolink:NamedThing regulation of extracellular matrix organization Any process that modulates the frequency, rate or extent of extracellular matrix organization. tmpte7i6ely_mondo_relaxed.owl regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis owl:Class HGNC:23143 biolink:NamedThing SYT14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008406 biolink:NamedThing autosomal recessive Emery-Dreifuss muscular dystrophy Autosomal recessive form of Emery-Dreifuss muscular dystrophy. tmpte7i6ely_mondo_relaxed.owl EDMD3|Emery-Dreifuss muscular dystrophy, autosomal recessive ICD10:G71.0|MESH:D020389|OMIM:616516|UMLS:C2750035|Orphanet:98855 owl:Class MONDO:0011818 biolink:NamedThing isolated focal cortical dysplasia type II tmpte7i6ely_mondo_relaxed.owl cortical dysplasia of Taylor without balloon cells|focal cortical dysplasia type 2|cortical dysplasia, Taylor type|CDT|FCD type II|focal cortical dysplasia, type 2|focal cortical dysplasia, type 2A|focal cortical dysplasia of Taylor, type 2A|cortical dysplasia of Taylor, dysplasia only|focal cortical dysplasia of Taylor|FCDT|focal cortical dysplasia, type 2B|FCD 2A|cortical dysplasia of Taylor with balloon cells|isolated focal cortical dysplasia type 2|FCD 2B|focal cortical dysplasia of Taylor, type 2B|cortical dysplasia of Taylor|FCORD2|Fcd2|focal cortical dysplasia, type II|focal cortical dysplasia type II Orphanet:268994|MESH:C537067|ICD10:Q04.8|Orphanet:65683|Orphanet:269001|Orphanet:269008|GARD:0010190|OMIM:607341 https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor owl:Class MONDO:0024950 biolink:NamedThing horse disease Diseases of domestic and wild horses of the species Equus caballus. tmpte7i6ely_mondo_relaxed.owl diseases, horse|equine disease|horse disease|disease, horse|disease, equine|equine diseases|diseases, equine UMLS:C0019940|MESH:D006734 owl:Class MONDO:0042971 biolink:NamedThing congenital herpes virus infection An infectious embryofetopathy caused by infection with Herpesviridae. tmpte7i6ely_mondo_relaxed.owl Herpesviridae caused infectious embryofetopathy|congenital infection caused by herpes virus|Herpesviridae infectious embryofetopathy|congenital herpes virus infection UMLS:C4275250|GARD:0002669|SCTID:715337002|GARD:0002670 owl:Class MONDO:0033204 biolink:NamedThing ciliary dyskinesia, primary, 37 tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 37, with or without situs inversus|primary ciliary dyskinesia 37|ciliary dyskinesia, primary, 37|CILD37 OMIM:617577|DOID:0080266|Orphanet:244 owl:Class UBERON:0015078 biolink:NamedThing proximal carpal endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001460 biolink:NamedThing dyshormonogenic goiter tmpte7i6ely_mondo_relaxed.owl UMLS:C0152077|ICD9:246.1|ICD10:E07.1|DOID:12175|SCTID:190304001 owl:Class MONDO:0017789 biolink:NamedThing idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. tmpte7i6ely_mondo_relaxed.owl Orphanet:314017|ICD10:H16.3 owl:Class HGNC:1149 biolink:NamedThing BUB1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001787 biolink:NamedThing hepatic infarction tmpte7i6ely_mondo_relaxed.owl infarct of liver DOID:13738|ICD10:K76.3|UMLS:C0151731|SCTID:17890003|ICD9:573.4 owl:Class MONDO:0010413 biolink:NamedThing intellectual disability, X-linked 95 tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 95|MRX95|mental retardation, X-linked 95 OMIM:300716|Orphanet:777|MESH:C567470|UMLS:C2678034 owl:Class HGNC:9343 biolink:NamedThing PRCC tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14082 biolink:NamedThing ANLN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6770 biolink:NamedThing SMAD4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905706 biolink:NamedThing regulation of mitochondrial ATP synthesis coupled proton transport Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011415 biolink:NamedThing Leber congenital amaurosis 3 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis type 3|amaurosis congenita of Leber, type 3|Leber congenital amaurosis caused by mutation in SPATA7|Leber congenital amaurosis 3|SPATA7 Leber congenital amaurosis|retinitis pigmentosa, juvenile, Spata7-related|LCA3 OMIM:604232|ICD10:H35.5|MESH:C565814|DOID:0110331|GARD:0009661 https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3 owl:Class MONDO:0022768 biolink:NamedThing chronic polyradiculoneuritis tmpte7i6ely_mondo_relaxed.owl GARD:0001355 https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis owl:Class MONDO:0017725 biolink:NamedThing Tay-Sachs disease, b variant, juvenile form tmpte7i6ely_mondo_relaxed.owl GM2 gangliosidosis, B variant, juvenile form|hexosaminidase A deficiency, juvenile form ICD10:E75.0|UMLS:CN203621|Orphanet:309185 owl:Class HGNC:8940 biolink:NamedThing PHYH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009890 biolink:NamedThing negative regulation of biosynthetic process Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. tmpte7i6ely_mondo_relaxed.owl negative regulation of formation|down-regulation of biosynthetic process|negative regulation of anabolism|negative regulation of biosynthesis|inhibition of biosynthetic process|downregulation of biosynthetic process|down regulation of biosynthetic process|negative regulation of synthesis owl:Class UBERON:0017651 biolink:NamedThing salivary gland primordium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002884 biolink:NamedThing negative regulation of hypersensitivity Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity. tmpte7i6ely_mondo_relaxed.owl inhibition of hypersensitivity|downregulation of hypersensitivity|down-regulation of hypersensitivity|down regulation of hypersensitivity owl:Class MONDO:0009436 biolink:NamedThing congenital hypothalamic hamartoma syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. tmpte7i6ely_mondo_relaxed.owl congenital hypothalamic hamartoma syndrome|hamartoma of the hypothalamus|hypothalamic hamartomas|hamartoma of hypothalamus|hypothalamic hamartoma GARD:0002934|OMIM:241800|Orphanet:2113|ICD9:759.6|SCTID:237714006|MESH:C537158|NCIT:C4385 https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas owl:Class MPATH:603 biolink:NamedThing pathological anatomical entity Anatomically located instance of pathological response or entity. tmpte7i6ely_mondo_relaxed.owl owl:Class MPATH:0 biolink:NamedThing pathological entity Pathological structure or process tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004294 biolink:NamedThing gestational ovarian choriocarcinoma A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. tmpte7i6ely_mondo_relaxed.owl gestational ovarian choriocarcinoma NCIT:C40442|DOID:7591|UMLS:C1517538 owl:Class MONDO:0001145 biolink:NamedThing total third-nerve palsy tmpte7i6ely_mondo_relaxed.owl third or oculomotor nerve palsy, total|third nerve palsy with pupil involved|total third nerve palsy UMLS:C0271371|MESH:D015840|ICD9:378.52|DOID:10866|SCTID:194119004 owl:Class UBERON:0004445 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003979 biolink:NamedThing intrahepatic bile duct cystadenoma A mucinous cystic neoplasm that arises from the intrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl intrahepatic bile duct mucinous cystic neoplasm|intrahepatic bile duct cystadenoma|cystadenoma of the intrahepatic bile duct UMLS:C1334257|DOID:6733|NCIT:C96835 owl:Class MONDO:0003444 biolink:NamedThing intrahepatic bile duct adenoma A rare adenoma that arises from the intrahepatic biliary tree. tmpte7i6ely_mondo_relaxed.owl intrahepatic bile duct adenoma|adenoma, HEPATOCHOLANGIOCELLULAR, benign|adenoma of intrahepatic bile duct|adenoma of the intrahepatic bile duct DOID:5437|NCIT:C7126|UMLS:C1331535 owl:Class MONDO:0012206 biolink:NamedThing Czech dysplasia, metatarsal type Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia with precocious osteoarthritis|Czech dysplasia|Czech dysplasia, metatarsal type|pseudorheumatoid dysplasia, progressive, with hypoplastic toes|pseudorheumatoid dysplasia progressive, with hypoplastic toes|Czech dysplasia metatarsal type SCTID:720826006|Orphanet:137678|MESH:C535766|OMIM:609162|ICD10:Q77.7|GARD:0010220 https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type owl:Class MONDO:0020696 biolink:NamedThing vitamin B12 deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. tmpte7i6ely_mondo_relaxed.owl hypocobalaminemia|cobalamin deficiency|vitamin b12 deficiency SCTID:190634004|HP:0100502|ICD9:266.2|NCIT:C131684|UMLS:C0042847|MESH:D014806 owl:Class MONDO:0011486 biolink:NamedThing congenital muscular dystrophy 1B Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. tmpte7i6ely_mondo_relaxed.owl congenital muscular dystrophy type 1B|MDC1B|CMD1B|muscular dystrophy, congenital, 1B SCTID:764944006|ICD10:G71.2|MESH:C565748|UMLS:C1858118|Orphanet:98893|OMIM:604801|DOID:0110634 owl:Class UBERON:0000398 biolink:NamedThing cartilage tissue of sternum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006778 biolink:NamedThing halo nevus A benign melanocytic nevus with a halo appearance. tmpte7i6ely_mondo_relaxed.owl halo nevi|leukoderma acquisitum Centrifugum of Sutton MESH:D055882|ICDO:8723/0|ICD9:709.09|SCTID:398028009|EFO:1000958|MedDRA:10062794|GARD:0009421|NCIT:C7602|UMLS:C0474824 https://rarediseases.info.nih.gov/diseases/9421/halo-nevi owl:Class CHEBI:52210 biolink:NamedThing pharmacological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021480 biolink:NamedThing benign neoplasm of soft palate A benign neoplasm that involves the soft palate. tmpte7i6ely_mondo_relaxed.owl benign soft palate neoplasm|benign neoplasm of the soft palate|benign soft palate tumor|benign tumor of soft palate|benign tumor of the soft palate|soft palate benign neoplasm NCIT:C4404|SCTID:92386006|UMLS:C0345557|ICD9:210.4 owl:Class CL:0000550 biolink:NamedThing polychromatophilic erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpte7i6ely_mondo_relaxed.owl polychromatic erythroblast|intermediate erythroblast|polychromatophilic normoblast|rubricyte|intermediate normoblast|polychromatic normoblast FMA:83506 cell owl:Class HGNC:8824 biolink:NamedThing SERPINF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015157 biolink:NamedThing human herpesvirus 8-related tumor tmpte7i6ely_mondo_relaxed.owl HHV-8-related disorder Orphanet:102024|UMLS:CN226610 Editor note: TODO check this owl:Class MONDO:0024663 biolink:NamedThing primary skin meningioma tmpte7i6ely_mondo_relaxed.owl primary cutaneous meningioma|primary meningioma of skin|primary meningioma of the skin|primary skin meningioma UMLS:C1335481|NCIT:C5277 owl:Class UBERON:0008982 biolink:NamedThing fascia tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9000519 biolink:NamedThing exposure to dioxygen An exposure to dioxygen. tmpte7i6ely_mondo_relaxed.owl exposure to dioxygen owl:Class MONDO:0022293 biolink:NamedThing vascular disorder of penis A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma. tmpte7i6ely_mondo_relaxed.owl penile vascular disorder|Penile vascular disorder|Penis vascular disorder|Vascular disorder of penis|Penile Vascular Disorder ICD9:607.82|MEDGEN:102349|UMLS:C0156307|SCTID:198029003|NCIT:C35218 owl:Class UBERON:0010418 biolink:NamedThing urethral opening tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011894 biolink:NamedThing lumen of vagina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030433 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, type 2FF tmpte7i6ely_mondo_relaxed.owl CMT2FF|Charcot-Marie-Tooth neuropathy OMIM:619519 owl:Class HGNC:3573 biolink:NamedThing FADD tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11102 biolink:NamedThing SMARCAL1 tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000258 biolink:NamedThing exposure to steroid hormone An exposure to steroid hormone. tmpte7i6ely_mondo_relaxed.owl exposure to steroid hormone owl:Class MONDO:0012596 biolink:NamedThing PSAT deficiency Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. tmpte7i6ely_mondo_relaxed.owl PSATD|phosphoserine aminotransferase deficiency|PSAT deficiency UMLS:C1970253|GARD:0013273|SCTID:718603002|ICD10:E72.8|OMIM:610992|DOID:0050723|Orphanet:284417|MESH:C567032 owl:Class MONDO:0012027 biolink:NamedThing autoimmune disease, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl autoimmune disease, susceptibility to, 2|vitiligo-associated multiple autoimmune disease susceptibility 3|autoimmune disease susceptibility locus, chromosome 7-related|AIS2 OMIM:608391 owl:Class MONDO:0026763 biolink:NamedThing holoprosencephaly 13, X-linked tmpte7i6ely_mondo_relaxed.owl HOLOPROSENCEPHALY 13, X-LINKED|HPE13 OMIM:301043 owl:Class MONDO:0000531 biolink:NamedThing bronchus mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the bronchus. tmpte7i6ely_mondo_relaxed.owl bronchus mucoepidermoid carcinoma DOID:0050916 owl:Class MONDO:0019908 biolink:NamedThing ring chromosome 15 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists. tmpte7i6ely_mondo_relaxed.owl Ring chromosome 15 syndrome|Ring chromosome type 15|Ring 15|R15|chromosome 15 ring ICD10:Q93.2|SCTID:763405000|GARD:0001328|Orphanet:96177|UMLS:CN035931|MESH:C538035 https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 owl:Class NCBITaxon:55746 biolink:NamedThing Panagrolaimoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:36360 biolink:NamedThing phosphorus oxoacids and derivatives tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2364 biolink:NamedThing CRLF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005466 biolink:NamedThing hypersomnia A sleep disorder characterized by excessive sleepiness. tmpte7i6ely_mondo_relaxed.owl hypersomnia (disease)|hypersomnia hypersomnia (disease) UMLS:C0917799|HP:0100786|NCIT:C78346|SCTID:77692006|EFO:0005246|ICD9:780.54 owl:Class UBERON:0007719 biolink:NamedThing bone of reproductive organ tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0007010 biolink:NamedThing preosteoblast Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. tmpte7i6ely_mondo_relaxed.owl osteoprogenitor cell haendel 2012-06-27T10:57:21Z cell owl:Class MONDO:0015275 biolink:NamedThing partial atrioventricular canal Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea. tmpte7i6ely_mondo_relaxed.owl partial atrioventricular canal defect|partial AVSD|PAVC|partial common atrioventricular canal|partial atrioventricular septal defects Orphanet:1330|MESH:C536112|SCTID:718216009|GARD:0004229|OMIM:600309|ICD10:Q21.2 https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal owl:Class UBERON:0005691 biolink:NamedThing 4th arch mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012705 biolink:NamedThing familial temporal lobe epilepsy 3 tmpte7i6ely_mondo_relaxed.owl ETL3|epilepsy, familial temporal lobe, 3|familial temporal lobe epilepsy type 3|familial mesial temporal lobe epilepsy|FMTLE|epilepsy, familial mesial temporal lobe OMIM:611630|Orphanet:163717|MESH:C566903|UMLS:C1968848|DOID:0060750 MONDO:0000823 owl:Class MONDO:0015586 biolink:NamedThing benign familial mesial temporal lobe epilepsy Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. tmpte7i6ely_mondo_relaxed.owl benign FMTLE UMLS:CN226709|OMIM:615697|OMIM:614417|Orphanet:163717|OMIM:611630 owl:Class MONDO:0010084 biolink:NamedThing sucrosuria, hiatus hernia and intellectual disability tmpte7i6ely_mondo_relaxed.owl sucrosuria, hiatus hernia and intellectual disability|sucrosuria, hiatus hernia and mental retardation UMLS:C1848963|OMIM:272000|MESH:C564792 owl:Class MONDO:0054835 biolink:NamedThing parkinsonism-dystonia, infantile, 1 tmpte7i6ely_mondo_relaxed.owl PKDYS|PKDYS1|Parkinsonism-dystonia, infantile, 1|dopamine transporter deficiency syndrome OMIM:613135 owl:Class MONDO:0013150 biolink:NamedThing parkinsonism-dystonia, infantile Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. tmpte7i6ely_mondo_relaxed.owl parkinsonism-dystonia, infantile|Parkinsonism-dystonia infantile|PKDYS|IPD|infantile Parkinsonism-dystonia|PARKINSONISM-dystonia, infantile|dopamine transporter deficiency syndrome OMIMPS:613135|GARD:0010484|Orphanet:238455|SCTID:722763000|NCIT:C129866|UMLS:C2751067|MESH:C567730 https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia owl:Class MONDO:0008288 biolink:NamedThing popliteal cyst A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. tmpte7i6ely_mondo_relaxed.owl baker cyst|popliteal cyst SCTID:82675004|MESH:D011151|OMIM:175750|ICD9:727.51 owl:Class MONDO:0011622 biolink:NamedThing nephrolithiasis, uric acid, susceptibility to tmpte7i6ely_mondo_relaxed.owl nephrolithiasis, uric acid, susceptibility to|urolithiasis, uric acid, susceptibility to|UAN|susceptibility to uric acid nephrolithiasis OMIM:605990 owl:Class MONDO:0026768 biolink:NamedThing warfarin sensitivity, X-linked tmpte7i6ely_mondo_relaxed.owl Coumarin Sensitivity, X-Linked|WARFARIN SENSITIVITY, X-LINKED 2022-04-01 OMIM:301052 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0060621 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy tmpte7i6ely_mondo_relaxed.owl NDMSCA|neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM:617802|UMLS:C4540493 owl:Class MONDO:0032776 biolink:NamedThing hearing loss, autosomal recessive 99 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 99|DFNB99 DOID:0111634|OMIM:618481 owl:Class HGNC:26929 biolink:NamedThing CDIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006806 biolink:NamedThing intermediate uveitis Inflammation of the pars plana. tmpte7i6ely_mondo_relaxed.owl peripheral uveoretinitis|intermediate uveitis (disease)|pars planitis|chronic cyclitis|intermediate uveitis|IU intermediate uveitis (disease) NCIT:C35110|Orphanet:279914|MESH:D015867|HP:0012124|MedDRA:10022557|SCTID:314429009|ICD10:H30.2|EFO:1000986|DOID:12732|UMLS:C0042166 owl:Class MONDO:0019023 biolink:NamedThing cutaneous mastocytosis Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. tmpte7i6ely_mondo_relaxed.owl cutaneous mastocytosis|cutaneous mastocytosis (disease)|cutaneous (skin) mastocytosis|CM|CMCD NCIT:C7137|Orphanet:66646|ICDO:9740/1|OMIM:154800|GARD:0007842|EFO:1000886|UMLS:C1136033|SCTID:397012002|DOID:3663|ONCOTREE:CMCD|HP:0200151|ICD10:Q82.2|MESH:D034701 owl:Class MONDO:0004956 biolink:NamedThing metastatic prostate carcinoma A carcinoma that arises from the prostate gland and has spread to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl metastatic prostate carcinoma|prostate carcinoma metastatic|prostate cancer metastatic|metastatic prostate cancer SCTID:314994000|EFO:0000196|ICD9:199.1|NCIT:C8946 owl:Class UBERON:0007214 biolink:NamedThing mesenchyme derived from trunk neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11133 biolink:NamedThing SNAP29 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003331 biolink:NamedThing positive regulation of extracellular matrix constituent secretion Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010316 biolink:NamedThing germ layer / neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011551 biolink:NamedThing TH-deficient dopa-responsive dystonia Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. tmpte7i6ely_mondo_relaxed.owl dystonia, DOPA responsive, autosomal recessive|DOPA responsive dystonia, autosomal recessive|Segawa syndrome, autosomal recessive|tyrosine hydroxylase-deficient dopa-responsive dystonia|DYT5b|autosomal recessive Segawa syndrome|Parkinsonism, infantile, autosomal recessive|dystonia, Dopa-responsive, autosomal recessive|dopa-responsive dystonia, autosomal recessive|Dopa-responsive dystonia, autosomal recessive|autosomal recessive dopa-responsive dystonia OMIM:605407|UMLS:C2673535|Orphanet:101150|GARD:0001902|ICD10:G24.1|SCTID:715827001 owl:Class MONDO:0025062 biolink:NamedThing encephalomyelitis, enzootic porcine A picornavirus infection producing symptoms similar to poliomyelitis in pigs. tmpte7i6ely_mondo_relaxed.owl Talfan disease|porcine poliomyelitis|disease, Talfan|enzootic porcine encephalomyelitis|Teschen disease|disease, Teschen|porcine encephalomyelitis, enzootic|poliomyelitis, porcine MESH:D004682 owl:Class CL:0000239 biolink:NamedThing brush border epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0001555 biolink:NamedThing neonatal thyrotoxicosis A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. tmpte7i6ely_mondo_relaxed.owl infantile hyperthyroidism ICD9:775.3|NCIT:C114906|SCTID:13795004|ICD10:P72.1|UMLS:C0158983|DOID:12573 owl:Class MONDO:0010138 biolink:NamedThing thyrotoxicosis A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. tmpte7i6ely_mondo_relaxed.owl Graves disease, susceptibility to, 1|GRD1|Grd|hyperthyroidism, autoimmune|thyrotoxicosis ICD10:E05.9|ICD9:242|DOID:7997|UMLS:C0040156|ICD9:242.90|ICD9:242.80|OMIM:275000|MESH:D013971|EFO:0009190|NCIT:C61469|SCTID:90739004 Editor note: TODO separate out predisposition owl:Class UBERON:0019262 biolink:NamedThing white matter of myelencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002436 biolink:NamedThing mature CD4 single-positive thymocyte A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpte7i6ely_mondo_relaxed.owl T.4SP24-.Th tmeehan 2010-10-21T03:31:19Z cell owl:Class CL:0000624 biolink:NamedThing CD4-positive, alpha-beta T cell A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor. tmpte7i6ely_mondo_relaxed.owl CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-lymphocyte cell owl:Class MONDO:0021925 biolink:NamedThing tracheobronchitis Inflammation of the tracheobronchial tree. tmpte7i6ely_mondo_relaxed.owl tracheobronchitis|Tracheobronchitis SCTID:13617004|NCIT:C122784|UMLS:C0040586 owl:Class HP:0005339 biolink:NamedThing Abnormality of complement system An abnormality of the complement system. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025213 The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. peter 2008-03-26T07:58:00Z HP:0025541 human_phenotype owl:Class MONDO:0013035 biolink:NamedThing orofaciodigital syndrome XI Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. tmpte7i6ely_mondo_relaxed.owl oral-facial-digital syndrome, Gabrielli type|Ofds 11|oral-facial-digital syndrome type 11|oral facial digital syndrome 11|oral-Facial-digital syndrome, type 11|Gabrielli syndrome|orofaciodigital syndrome XI|orofaciodigital syndrome type 11|orofaciodigital syndrome 11|oral-Facial-digital syndrome with skeletal anomalies|oral facial digital syndrome type 11|OFD11|OFD syndrome 11|orofaciodigital syndrome, Gabrielli type|orofaciodigital syndrome type XI DOID:0060381|SCTID:718681002|GARD:0004118|OMIM:612913|Orphanet:141000|ICD10:Q87.0|MESH:C557821 https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 owl:Class UBERON:0010564 biolink:NamedThing manual digit 1 mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23204 biolink:NamedThing KIRREL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043172 biolink:NamedThing pfeiffer rockelein syndrome tmpte7i6ely_mondo_relaxed.owl asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia UMLS:C2931656|MESH:C537890|GARD:0004306 owl:Class MONDO:0017424 biolink:NamedThing non-syndromic brachydactyly tmpte7i6ely_mondo_relaxed.owl nonsyndromic brachydactyly|isolated brachydactyly|brachydactyly SCTID:43476002|Orphanet:294937 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0011802 biolink:NamedThing hypercalciuria, absorptive, 1 tmpte7i6ely_mondo_relaxed.owl Hca1|hypercalciuria, absorptive, type 1|hypercalciuria, absorptive, 1 MESH:C564600|UMLS:C1846573|Orphanet:2197|OMIM:607258 owl:Class MONDO:0001379 biolink:NamedThing ureteric orifice cancer A malignant neoplasm involving the ureteral orifice. tmpte7i6ely_mondo_relaxed.owl ureteral orifice cancer|malignant tumor of ureteric orifice|malignant neoplasm of ureteral orifice|orifice of the ureter|cancer of ureteral orifice|malignant neoplasm of ureteric orifice of urinary bladder|malignant ureteral orifice neoplasm SCTID:188245008|ICD10:C67.6|UMLS:C0153614|DOID:11818|NCIT:C12337|ICD9:188.6 owl:Class UBERON:0006058 biolink:NamedThing multi-limb segment region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010758 biolink:NamedThing subdivision of organism along appendicular axis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034654 biolink:NamedThing nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. tmpte7i6ely_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis|nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid anabolism owl:Class HP:0011730 biolink:NamedThing Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. tmpte7i6ely_mondo_relaxed.owl Abnormality of central sensory function UMLS:C4023215 peter 2012-04-19T07:44:18Z human_phenotype owl:Class PO:0009007 biolink:NamedThing portion of plant tissue A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types. tmpte7i6ely_mondo_relaxed.owl 植物組織の一部 (Japanese, exact)|plant tissue (related)|portion of tissue (broad)|porción de un tejido vegetal (Spanish, exact)|tissue (broad) PO_GIT:59 A portion of plant tissue may contain one or several types of cells that are organized in a specific spatial arrangement into a structural unit (which includes a mass of callus) and may include an intercellular matrix. May include other types of isolated cells, such as idioblasts. plant_anatomy owl:Class MONDO:0003336 biolink:NamedThing acute necrotizing encephalitis A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) tmpte7i6ely_mondo_relaxed.owl acute necrotizing encephalopathy|ANE|acute necrotizing encephalitis NCIT:C35383|DOID:5222|UMLS:C0338418|ICD9:049.8|SCTID:111897007|GARD:0013233 owl:Class MONDO:0014911 biolink:NamedThing growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl GRIDHH|Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH EFO:0009155|OMIM:617093|UMLS:C4310720|Orphanet:541423 owl:Class UBERON:0003639 biolink:NamedThing manual digit 5 phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008923 biolink:NamedThing autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. tmpte7i6ely_mondo_relaxed.owl cataract-alopecia-sclerodactyly syndrome|cataract, alopecia, sclerodactyly|palmoplantar keratoderma and congenital alopecia 2|autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|palmoplantar keratoderma and congenital alopecia, Wallis type|PPK-CA, Wallis type|palmoplantar keratoderma and congenital alopecia type 2|PPKCA2|cataract, alopecia, sclerodactyly syndrome|cass|Ppkca, Wallis type Orphanet:1366|ICD10:Q82.8|DOID:0111245|MESH:C535336|OMIM:212360|GARD:0001139|UMLS:C1859316|ICD10:Q84.0 https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia owl:Class MONDO:0007566 biolink:NamedThing multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. tmpte7i6ely_mondo_relaxed.owl multiple self-healing squamous epithelioma, susceptibility to|ESS1 (formerly)|multiple self-healing epithelioma of Ferguson-Smith|multiple self healing squamous epithelioma|familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|MSSE|multiple keratoacanthoma, Ferguson-Smith type|Ferguson-Smith type epithelioma|ESS1|Ferguson-Smith-type epithelioma|self-healing squamous epithelioma type 1|Ferguson-Smith tumor|multiple self-healing squamous epithelioma|Ferguson-Smith disease|ESS1, formerly|multiple self healing epithelioma of Ferguson-Smith OMIM:132800|GARD:0003090|DOID:5585|MESH:C536150|ICD10:C44.3|ICD10:C44.6|Orphanet:65748|NCIT:C4461|UMLS:C0345982|ICD10:C44.7|SCTID:254659009 https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma owl:Class MONDO:0001202 biolink:NamedThing prostatic cyst tmpte7i6ely_mondo_relaxed.owl cyst of prostate ICD9:600.3|UMLS:C1443972|SCTID:409658007|ICD9:599.89|ICD10:N42.83|DOID:11133 owl:Class CL:0000169 biolink:NamedThing type B pancreatic cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. tmpte7i6ely_mondo_relaxed.owl pancreatic B-cell|pancreatic beta cell|pancreatic islet core|type B enteroendocrine cell|pancreatic B cell|B-cell of pancreatic islet|insulin-secreting cell|beta cell islet|beta cell of pancreatic islet|beta cell FMA:70586|EV:0200009|MA:0002419|BTO:0000783|ncithesaurus:Beta_Cell Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. cell owl:Class CHEBI:36683 biolink:NamedThing organochlorine compound An organochlorine compound is a compound containing at least one carbon-chlorine bond. tmpte7i6ely_mondo_relaxed.owl organochloride compounds|chlororganische Verbindungen|organochloride|organochlorine compounds|chloroorganic compounds|an organochlorine molecule|organochlorine compound|organochloride compound|organochlorides owl:Class CHEBI:17792 biolink:NamedThing organohalogen compound A compound containing at least one carbon-halogen bond (where X is a halogen atom). tmpte7i6ely_mondo_relaxed.owl RX|organohalogen compounds|organic halides|organic halide owl:Class HGNC:11850 biolink:NamedThing TLR4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014369 biolink:NamedThing postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. tmpte7i6ely_mondo_relaxed.owl Pallister-Hall syndrome 2, formerly|CJS|Pallister-Hall syndrome 2|Culler-Jones syndrome GARD:0013349|Orphanet:420584|ICD10:Q87.8|DOID:0080328|UMLS:C4014479|OMIM:615849 owl:Class MONDO:0013125 biolink:NamedThing CLAPO syndrome CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). tmpte7i6ely_mondo_relaxed.owl capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Clapo|Lopez-Gutierrez syndrome OMIM:613089|UMLS:C2751313|MESH:C567763|Orphanet:168984|SCTID:717765001|ICD10:Q87.3 owl:Class MONDO:0019190 biolink:NamedThing juvenile polyposis of infancy Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. tmpte7i6ely_mondo_relaxed.owl infantile onset juvenile polyposis syndrome|infantile juvenile polyposis syndrome|juvenile polyposis syndrome of infancy UMLS:CN205768|OMIM:612242|ICD10:D12.6|Orphanet:79076 owl:Class MONDO:0014337 biolink:NamedThing complex cortical dysplasia with other brain malformations 5 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. tmpte7i6ely_mondo_relaxed.owl CDCBM5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|cortical dysplasia, Complex, with Other brain malformations type 5|cortical dysplasia, complex, with other brain malformations 5|TUBB2A complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 5 OMIM:615763|DOID:0090135|UMLS:C3810407 owl:Class NCBITaxon:2497569 biolink:NamedThing Negarnaviricota tmpte7i6ely_mondo_relaxed.owl Negative-strand RNA viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732396 biolink:NamedThing Orthornavirae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004788 biolink:NamedThing kidney pelvis urothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011563 biolink:NamedThing fibromatosis, gingival, 2 tmpte7i6ely_mondo_relaxed.owl fibromatosis, gingival, 2|fibromatosis, gingival, hereditary, 2|HGF2|GGF2|fibromatosis gingival, hereditary, 2|GINGF2|gingival fibromatosis, 2|hereditary gingival fibromatosis, 2 GARD:0002474|OMIM:605544|MESH:C565323|Orphanet:2024 owl:Class MONDO:0007625 biolink:NamedThing focal epithelial hyperplasia of the oral mucosa tmpte7i6ely_mondo_relaxed.owl focal epithelial hyperplasia of the oral mucosa UMLS:C1851009|OMIM:136400|MESH:C565008 owl:Class MONDO:0032768 biolink:NamedThing developmental and epileptic encephalopathy, 76 tmpte7i6ely_mondo_relaxed.owl Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76|epileptic encephalopathy, early infantile, 76|EIEE76|DEE76 OMIM:618468 owl:Class GO:0045922 biolink:NamedThing negative regulation of fatty acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpte7i6ely_mondo_relaxed.owl down regulation of fatty acid metabolic process|downregulation of fatty acid metabolic process|inhibition of fatty acid metabolic process|negative regulation of fatty acid metabolism|down-regulation of fatty acid metabolic process owl:Class MONDO:0021040 biolink:NamedThing pancreatic neoplasm A benign or malignant neoplasm involving the pancreas. tmpte7i6ely_mondo_relaxed.owl pancreatic neoplasm|pancreas neoplasm|neoplasm of the pancreas|pancreas neoplasm (disease)|tumor of pancreas|pancreas tumor|tumor of the pancreas|pancreatic tumor|neoplasm of pancreas|pancreas MESH:D010190|NCIT:C3305|ONCOTREE:PANCREAS|EFO:0003860|SCTID:126859007 owl:Class GO:0060156 biolink:NamedThing milk ejection reflex A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness. tmpte7i6ely_mondo_relaxed.owl milk ejection owl:Class MONDO:0014500 biolink:NamedThing atrial conduction disease Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted. tmpte7i6ely_mondo_relaxed.owl CCDD|CARDIAC conduction disease with or without dilated cardiomyopathy|familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease Orphanet:436242|ICD10:I45.8|UMLS:C4015285|EFO:0005304|OMIM:616117 owl:Class HGNC:4193 biolink:NamedThing GCH1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21863 biolink:NamedThing RBM28 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002137 biolink:NamedThing noninfectious dermatoses of eyelid tmpte7i6ely_mondo_relaxed.owl non-infected eyelid dermatoses ICD9:373.3|ICD10:H01.1|UMLS:C0155176|DOID:1894|SCTID:111524003 owl:Class ECTO:9001640 biolink:NamedThing exposure to electron donor An exposure to electron donor. tmpte7i6ely_mondo_relaxed.owl exposure to electron donor owl:Class GO:1903523 biolink:NamedThing negative regulation of blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation. tmpte7i6ely_mondo_relaxed.owl down-regulation of hemolymph circulation|down regulation of blood circulation|down-regulation of blood circulation|downregulation of hemolymph circulation|down regulation of hemolymph circulation|downregulation of blood circulation|negative regulation of hemolymph circulation|inhibition of blood circulation|inhibition of hemolymph circulation owl:Class GO:1903522 biolink:NamedThing regulation of blood circulation Any process that modulates the frequency, rate or extent of blood circulation. tmpte7i6ely_mondo_relaxed.owl regulation of hemolymph circulation owl:Class MONDO:0006611 biolink:NamedThing skin sarcoidosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. tmpte7i6ely_mondo_relaxed.owl cutaneous sarcoidosis|zone of skin sarcoidosis|cutaneous sarcoid|sarcoidosis of zone of skin Wikipedia:Cutaneous_manifestations_of_sarcoidosis|UMLS:C0036203|EFO:1000767|DOID:13402|SCTID:55941000|NCIT:C34996|ICD10:D86.3 owl:Class HGNC:21244 biolink:NamedThing LEMD2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901137 biolink:NamedThing carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. tmpte7i6ely_mondo_relaxed.owl carbohydrate derivative formation|carbohydrate derivative biosynthesis|carbohydrate derivative anabolism|carbohydrate derivative synthesis owl:Class GO:0033008 biolink:NamedThing positive regulation of mast cell activation involved in immune response Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response. tmpte7i6ely_mondo_relaxed.owl positive regulation of mast cell activation during immune response owl:Class MONDO:0012731 biolink:NamedThing elliptocytosis 1 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene. tmpte7i6ely_mondo_relaxed.owl elliptocytosis 1|4.1-minus trait|EL1|hereditary elliptocytosis caused by mutation in EPB41|elliptocytosis type 1|Protein 4.1 of erythrocyte Membrane, defect of|elliptocytosis, Rhesus-linked type|EPB41 hereditary elliptocytosis|4.1- trait OMIM:611804|UMLS:C2678497|MESH:C567520|Orphanet:288 owl:Class MONDO:0044871 biolink:NamedThing dystonia, focal, task-specific tmpte7i6ely_mondo_relaxed.owl focal task-specific dystonia|task-specific dystonia|task-specific focal dystonia|musician's cramp|focal hand dystonia|musician's dystonia|dystonia, focal, task-specific|FTSD|occupational dystonia|occupational cramp OMIM:611284|MESH:C566973|SCTID:230330004 owl:Class MONDO:0000477 biolink:NamedThing focal dystonia A dystonia that is localized to a specific part of the body. tmpte7i6ely_mondo_relaxed.owl SCTID:445006008|UMLS:C0743332|DOID:0050836 owl:Class UBERON:0010899 biolink:NamedThing synchronous hermaphroditic organism tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007197 biolink:NamedThing hermaphroditic organism tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001153 biolink:NamedThing Septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. tmpte7i6ely_mondo_relaxed.owl Double vagina UMLS:C0266411|SNOMEDCT_US:47054003 human_phenotype owl:Class HP:0000142 biolink:NamedThing Abnormal vagina morphology Any structural abnormality of the vagina. tmpte7i6ely_mondo_relaxed.owl Vaginal malformation UMLS:C1856023 HP:0008650 human_phenotype owl:Class HGNC:1040 biolink:NamedThing BFSP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003688 biolink:NamedThing omentum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023820 biolink:NamedThing Moebius axonal neuropathy hypogonadism tmpte7i6ely_mondo_relaxed.owl Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type GARD:0003698|MESH:C535806 https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism owl:Class MONDO:0013846 biolink:NamedThing peripartum cardiomyopathy, susceptibility to tmpte7i6ely_mondo_relaxed.owl Ppcm, susceptibility to|peripartum cardiomyopathy, susceptibility to OMIM:614670 owl:Class UBERON:0001806 biolink:NamedThing sympathetic ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905332 biolink:NamedThing positive regulation of morphogenesis of an epithelium Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. tmpte7i6ely_mondo_relaxed.owl up regulation of epithelium morphogenesis|activation of epithelium morphogenesis|up-regulation of morphogenesis of an epithelium|up-regulation of epithelium morphogenesis|upregulation of epithelium morphogenesis|up regulation of morphogenesis of an epithelium|positive regulation of epithelium morphogenesis|activation of morphogenesis of an epithelium|upregulation of morphogenesis of an epithelium owl:Class MONDO:0003568 biolink:NamedThing disorder of optic chiasm A disease that involves the optic chiasma. tmpte7i6ely_mondo_relaxed.owl disease or disorder of optic chiasma|optic chiasma disease|disorder of optic chiasma|disorder of optic chiasm|chiasmal syndrome|optic chiasma disease or disorder|disease of optic chiasma|chiasma syndrome SCTID:70476006|UMLS:C0155307|ICD9:377.63|ICD10:H47.4|ICD9:377.5|DOID:5655 owl:Class MONDO:0011396 biolink:NamedThing loricrin keratoderma A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. tmpte7i6ely_mondo_relaxed.owl mutilating keratoderma with ichthyosis|keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Vohwinkel syndrome, variant form|loricrin keratoderma|Vohwinkel syndrome with ichthyosis|keratoderma hereditarium mutilans with ichthyosis|Camisa disease OMIM:604117|ICD10:Q82.8|MESH:C565826|Orphanet:79395|SCTID:717183001|UMLS:C1858805 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0007489 biolink:NamedThing dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known. tmpte7i6ely_mondo_relaxed.owl dysplasia epiphysealis hemimelica|Trevor disease OMIM:127800|MESH:C537997|Orphanet:1822|ICD10:Q74.8|SCTID:205480005|UMLS:C0432282|GARD:0002019|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica owl:Class HGNC:8621 biolink:NamedThing PAX7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011269 biolink:NamedThing psoriasis 2 Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. tmpte7i6ely_mondo_relaxed.owl CARD14 psoriasis|psoriasis type 2|PSORS2|psoriasis 2|psoriasis caused by mutation in CARD14 UMLS:C1864497|DOID:0080475|OMIM:602723 owl:Class NCBITaxon:134362 biolink:NamedThing Capnodiales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:451867 biolink:NamedThing Dothideomycetidae tmpte7i6ely_mondo_relaxed.owl PMID:17486979|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012239 biolink:NamedThing nemaline myopathy 1 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy caused by mutation in TPM3|Cap myopathy 1|TPM3 nemaline myopathy|NEM1|nemaline myopathy 1, autosomal dominant or recessive|Nem1|nemaline myopathy type 1|nemaline myopathy 1 Orphanet:607|OMIM:609284|Orphanet:171881|UMLS:C1836448|DOID:0110926|MESH:C538348 owl:Class MONDO:0100108 biolink:NamedThing TPM3-related myopathy TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation. tmpte7i6ely_mondo_relaxed.owl TPM3 myopathy|congenital myopathy related to TPM3|TPM3-related myopathy|autosomal dominant TPM3-related myopathy The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0012593 biolink:NamedThing brain-lung-thyroid syndrome Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). tmpte7i6ely_mondo_relaxed.owl choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|BLT syndrome|CAHTP|choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|choreoathetosis-hypothyroidism-neonatal respiratory distress|brain-lung-thyroid syndrome ICD10:E03.1|OMIM:610978|MESH:C567034|Orphanet:209905|SCTID:719098007|GARD:0012163 https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome owl:Class UBERON:0010162 biolink:NamedThing post-anal tail tip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030261 biolink:NamedThing pontocerebellar hypoplasia, type 1F tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia, type 1F|PCH1F OMIM:619304 owl:Class UBERON:0003845 biolink:NamedThing lower eyelid epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000463 biolink:NamedThing Ochoa syndrome Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. tmpte7i6ely_mondo_relaxed.owl urofacial syndrome|UFS|partial facial palsy with urinary abnormalities|urofacial Ochoa's syndrome|hydronephrosis-inverted smile syndrome|Ochoa syndrome|inverted smile and occult neuropathic bladder|inverted smile-neurogenic bladder syndrome|hydronephrosis with peculiar facial expression GARD:0000104|SCTID:236533008|Orphanet:2704|ICD10:N31.8|OMIM:615112|DOID:0050816|MESH:C536480|OMIM:236730|OMIMPS:236730 owl:Class MONDO:0012474 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 4 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nocturnal frontal lobe epilepsy type 4|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|seizures, benign familial infantile, 6|ENFL4|epilepsy, nocturnal frontal lobe, 4|convulsions, benign familial infantile, 6|epilepsy, nocturnal frontal lobe, type 4|epilepsy, familial, with nocturnal wandering and Ictal fear|nocturnal frontal lobe epilepsy 4|CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy Orphanet:98784|OMIM:610353|DOID:0060685|UMLS:C1835905|MESH:C563679 owl:Class MONDO:0000030 biolink:NamedThing sleep-related hypermotor epilepsy tmpte7i6ely_mondo_relaxed.owl epilepsy, nocturnal frontal lobe|sleep-related hypermotor epilepsy OMIMPS:600513 https://github.com/monarch-initiative/mondo/issues/3891 owl:Class MONDO:0007077 biolink:NamedThing Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. tmpte7i6ely_mondo_relaxed.owl Tietz albinism-deafness syndrome|TADS|hypopigmentation-deafness syndrome|hypopigmentation/deafness of Tietz|Tietz syndrome|albinism-deafness of Tietz Orphanet:42665|DOID:0090002|UMLS:C0391816|OMIM:103500|GARD:0007772|SCTID:403805009|ICD9:270.2|MESH:C536919 Editor note: consider classification under albinism https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome owl:Class NCBITaxon:2611352 biolink:NamedThing Discoba tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2759 biolink:NamedThing Eukaryota tmpte7i6ely_mondo_relaxed.owl Eucaryotae|eukaryotes|Eukaryotae|Eucarya|eucaryotes|Eukarya GC_ID:1|PMID:30257078|PMID:23020233 ncbi_taxonomy owl:Class MONDO:0008942 biolink:NamedThing cerebelloparenchymal disorder II tmpte7i6ely_mondo_relaxed.owl CPD, late-onset recessive type|CPD2|cerebelloparenchymal disorder II 2022-05-01 OMIM:213100|MESH:C565866|UMLS:C1859299 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0000114 biolink:NamedThing cerebelloparenchymal disorder tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:48705 biolink:NamedThing agonist Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. tmpte7i6ely_mondo_relaxed.owl agonist|agoniste|agonista|agonists owl:Class NCBITaxon:12730 biolink:NamedThing Human respirovirus 1 tmpte7i6ely_mondo_relaxed.owl Human parainfluenza virus type 1|human parainfluenza virus type 1 HPIV-1|HPIV-1|Parainfluenza virus type 1|HPIV1|Human parainfluenza virus 1|Human parainfluenza 1 virus|human parainfluenza virus|human parainfluenza virus type 1 hPIV1 GC_ID:1 NCBITaxon:11209 ncbi_taxonomy owl:Class NCBITaxon:186938 biolink:NamedThing Respirovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030844 biolink:NamedThing spermatogenic failure 47 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 47|SPGF47 OMIM:619102 owl:Class GO:0045117 biolink:NamedThing azole transmembrane transport The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane. tmpte7i6ely_mondo_relaxed.owl azole transport owl:Class GO:0071705 biolink:NamedThing nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002884 biolink:NamedThing nail disorder A disease involving the nail. tmpte7i6ely_mondo_relaxed.owl disorder of nail|nail disease|disease of nail|disease or disorder of nail|nail disease or disorder ICD9:703.9|MESH:D009260|SCTID:17790008|ICD10:L60.9|UMLS:C0027339|ICD9:703|ICD9:703.8|ICD10:L60|DOID:4123 owl:Class UBERON:0010425 biolink:NamedThing internal naris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009737 biolink:NamedThing galactosialidosis A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. tmpte7i6ely_mondo_relaxed.owl lysosomal protective Protein deficiency|cathepsin A deficiency of|Goldberg syndrome|PPCA deficiency|neuraminidase/Beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency|lysosomal protective protein deficiency of|cathepsin A deficiency|galactosialidosis|protective Protein/Cathepsin a deficiency|GSL OMIM:256540|Orphanet:351|ICD9:277.6|SCTID:35691006|GARD:0003953|NCIT:C129928|ICD10:E77.1|DOID:0080540|MESH:C536411|UMLS:C0268233 https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis owl:Class GO:0002638 biolink:NamedThing negative regulation of immunoglobulin production Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production. tmpte7i6ely_mondo_relaxed.owl down-regulation of immunoglobulin production|downregulation of immunoglobulin production|inhibition of immunoglobulin production|negative regulation of immunoglobulin biosynthetic process|down regulation of immunoglobulin production|negative regulation of immunoglobulin secretion owl:Class GO:0002637 biolink:NamedThing regulation of immunoglobulin production Any process that modulates the frequency, rate, or extent of immunoglobulin production. tmpte7i6ely_mondo_relaxed.owl regulation of immunoglobulin secretion|regulation of antibody production|regulation of immunoglobulin biosynthetic process owl:Class FOODON:03303918 biolink:NamedThing human milk (raw) Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child. tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F3918 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) https://en.wikipedia.org/wiki/Breast_milk http://langual.org subset_siren owl:Class MONDO:0003277 biolink:NamedThing malignant ear neoplasm A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. tmpte7i6ely_mondo_relaxed.owl malignant Ear tumor|malignant tumor of Ear|cancer of ear|malignant neoplasm of the Ear|malignant ear neoplasm|malignant tumor of ear|malignant Ear neoplasm|auricular cancer|malignant neoplasm of ear|ear cancer|malignant neoplasm of Ear|malignant tumor of the Ear SCTID:443648003|MESH:D004428|UMLS:C0751094|NCIT:C9337|DOID:5101 owl:Class MONDO:0010631 biolink:NamedThing incontinentia pigmenti Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). tmpte7i6ely_mondo_relaxed.owl Incontinentia pigmenti, familial Male-lethal type|Incontinentia pigmenti, type II|Incontinentia pigmenti syndrome|IP2 (formerly)|Incontinentia pigmenti type 2 (formerly)|Bloch-Siemens syndrome|incontinentia pigmenti|Bloch-Sulzberger syndrome|Incontinentia pigmenti, type II, formerly|IP EFO:1000672|Orphanet:464|UMLS:C0021171|NCIT:C84787|Wikipedia:Incongenita_pigmenti|DOID:12305|SCTID:367520004|MESH:D007184|GARD:0006778|ICD10:Q82.3|OMIM:308300 owl:Class MONDO:0005972 biolink:NamedThing streptococcal pneumonia A febrile disease caused by streptococcus pneumoniae. tmpte7i6ely_mondo_relaxed.owl Streptococcus pneumoniae caused pneumonia|pneumococcal pneumonia|streptococcal pneumonia|Streptococcus pneumonia|pneumonia caused by streptococcus|Streptococcus pneumoniae pneumonia|pneumonia due to streptococcus ICD9:481|ICD9:482.39|UMLS:C0155862|ICD9:482.30|ICD10:J13|SCTID:233607000|DOID:0040084|EFO:0007499|MESH:D011018 owl:Class MONDO:0018086 biolink:NamedThing ulerythema ophryogenesis Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. tmpte7i6ely_mondo_relaxed.owl type of genodermatosis|keratosis pilaris affecting the follicles of the eyebrow hairs GARD:0005395|Orphanet:3406|OMIM:604093 https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis owl:Class MONDO:0018855 biolink:NamedThing keratosis pilaris atrophicans An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair. tmpte7i6ely_mondo_relaxed.owl Atrophodermia reticulata|Atrophodermia reticulata symmetrica faciei|keratosis pilaris atrophicans facies|keratosis pilaris|KPA|keratosis pilaris atrophicans|honeycomb atrophy|burnett Schwartz Berberian syndrome|ulerythema ophryogenes with multiple congenital anomalies|folliculitis ulerythematosa|ulerythema ophryogenesis|amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|ulerythema ophryogenes|folliculitis ulerythematosa reticulata|Atrophodermia vermiculata MESH:C537412|Orphanet:498|GARD:0001042|SCTID:400059005|OMIM:604093|ICD9:757.39|ICD10:L85.8 https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome owl:Class MONDO:0001400 biolink:NamedThing schwannoma of ureter A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter. tmpte7i6ely_mondo_relaxed.owl ureter neurilemmoma|neurilemmoma of ureter|ureteral neurilemmoma|neurilemmoma of the ureter|ureter schwannoma|schwannoma of the ureter|ureteral schwannoma DOID:11888|UMLS:C1336877|NCIT:C6162 owl:Class MONDO:0008481 biolink:NamedThing spondylosis, cervical tmpte7i6ely_mondo_relaxed.owl spondylosis, cervical UMLS:C1384641|OMIM:184300|SCTID:387800004 owl:Class GO:0006487 biolink:NamedThing protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. tmpte7i6ely_mondo_relaxed.owl N-glycan biosynthesis|protein amino acid N-linked glycosylation|N-glycan metabolism owl:Class UBERON:0003611 biolink:NamedThing respiratory system elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000890 biolink:NamedThing Zika virus congenital syndrome A congenital birth syndrome that arises from materal Zika infection. tmpte7i6ely_mondo_relaxed.owl ZIKV congenital infection|congenital Zika syndrome|congenital Zika virus infection DOID:0080180 owl:Class MONDO:0016533 biolink:NamedThing apolipoprotein A-II amyloidosis tmpte7i6ely_mondo_relaxed.owl familial amyloid nephropathy due to apolipoprotein A-II variant|hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial renal amyloidosis due to apolipoprotein A-II variant|hereditary renal amyloidosis due to apolipoprotein A-II variant|AApoAII amyloidosis Orphanet:238269|UMLS:CN201610|ICD10:E85.0 owl:Class HGNC:18111 biolink:NamedThing CCDC50 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018271 biolink:NamedThing peripheral primitive neuroectodermal tumor A small round cell tumor with neural differentiation arising from the soft tissues or bone. tmpte7i6ely_mondo_relaxed.owl peripheral primitive neuroectodermal neoplasm|peripheral PNET|peripheral primitive neuroectodermal tumor|PPNET|peripheral neuroectodermal tumor|pPNET|peripheral neuroectodermal neoplasm|peripheral neuroepithelioma ICD10:C71.9|UMLS:C3489398|UMLS:C0684337|Orphanet:370348|ICDO:9364/3|NCIT:C9341 Other ontologies classify peripheral neuroepithelioma as a seprate class but NCIT treats these as synonyms and we aim to follow NCIT here. (See HP:0006717, SNOMED:254764001, the "included" disease concept on OMIM:612219, and UMLS:C3489398). https://github.com/monarch-initiative/mondo/issues/4039 owl:Class MONDO:0009582 biolink:NamedThing Mietens syndrome Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. tmpte7i6ely_mondo_relaxed.owl mental retardation syndrome, Mietens-WEBER type|Mietens-Weber syndrome|mental retardation syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability|intellectual disability syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|intellectual disability syndrome, Mietens-WEBER type|intellectual disability, Mietens-Weber type GARD:0003524|ICD9:759.89|UMLS:C0265249|SCTID:40291001|MESH:C537444|OMIM:249600|Orphanet:2557|ICD10:Q87.8 owl:Class CHEBI:76815 biolink:NamedThing EC 2.7.7.* (nucleotidyltransferase) inhibitor An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*). tmpte7i6ely_mondo_relaxed.owl inhibitor of nucleotidyltransferases|inhibitor of nucleotidyltransferases (EC 2.7.7.*)|inhibitors of nucleotidyltransferases|EC 2.7.7.* (nucleotidyltransferase) inhibitors|nucleotidyltransferase (EC 2.7.7.*) inhibitors|nucleotidyltransferase inhibitors|nucleotidyltransferase (EC 2.7.7.*) inhibitor|inhibitors of nucleotidyltransferases (EC 2.7.7.*)|nucleotidyltransferase inhibitor owl:Class CHEBI:76668 biolink:NamedThing EC 2.7.* (P-containing group transferase) inhibitor A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*). tmpte7i6ely_mondo_relaxed.owl EC 2.7.* inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitor|EC 2.7.* (P-containing group transferase) inhibitors|phosphorus-containing group transferase inhibitors|EC 2.7.* (phosphorus-containing group transferase) inhibitor|phosphorus-containing group transferase inhibitor|EC 2.7.* (phosphorus-containing group transferase) inhibitors|EC 2.7.* inhibitor owl:Class UBERON:0009550 biolink:NamedThing endoderm of foregut-midgut junction tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410030 biolink:NamedThing lymphatic vessel of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30605 biolink:NamedThing SEPSECS tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35571 biolink:NamedThing mancude organic heterocyclic parent tmpte7i6ely_mondo_relaxed.owl mancude organic heterocyclic parents|mancude-ring organic heterocyclic parents owl:Class CHEBI:35573 biolink:NamedThing organic mancude parent tmpte7i6ely_mondo_relaxed.owl organic mancude-ring parents|organic mancude parents owl:Class MONDO:0013160 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. tmpte7i6ely_mondo_relaxed.owl MDDGB2|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2|congenital muscular dystrophy-POMT2 related|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2|muscular dystrophy, congenital, Pomt2-related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2 NCIT:C126690|Orphanet:370968|UMLS:C3150416|OMIM:613156|Orphanet:370959 owl:Class MONDO:0011289 biolink:NamedThing apraxia of eyelid opening tmpte7i6ely_mondo_relaxed.owl apraxia of eyelid opening OMIM:603119 owl:Class GO:1902116 biolink:NamedThing negative regulation of organelle assembly Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. tmpte7i6ely_mondo_relaxed.owl downregulation of organelle assembly|inhibition of organelle assembly|down-regulation of organelle assembly|down regulation of organelle assembly owl:Class MONDO:0014218 biolink:NamedThing severe dermatitis-multiple allergies-metabolic wasting syndrome tmpte7i6ely_mondo_relaxed.owl EPKHE|SAM syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE|Sam syndrome|congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|severe dermatitis, multiple allergies, and metabolic wasting syndrome OMIM:615508|ICD10:Q82.8|Orphanet:369992|UMLS:C3809719 owl:Class MONDO:0032724 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 3 tmpte7i6ely_mondo_relaxed.owl SEMDJL3|SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 DOID:0112200|OMIM:618395 owl:Class UBERON:0012499 biolink:NamedThing serosa of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018371 biolink:NamedThing nebulin-related early-onset distal myopathy tmpte7i6ely_mondo_relaxed.owl distal nebulin myopathy Orphanet:399103|ICD10:G71.0 owl:Class MONDO:0016109 biolink:NamedThing autosomal recessive distal myopathy Autosomal recessive form of distal myopathy. tmpte7i6ely_mondo_relaxed.owl distal myopathy, autosomal recessive UMLS:CN229019|ICD10:G71.0|Orphanet:206653 owl:Class UBERON:0010223 biolink:NamedThing left pupil tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001771 biolink:NamedThing pupil tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33853 biolink:NamedThing phenols Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring. tmpte7i6ely_mondo_relaxed.owl phenols|Aryl alcohol|arenols|a phenol owl:Class NCBITaxon:226665 biolink:NamedThing Rickettsia heilongjiangensis tmpte7i6ely_mondo_relaxed.owl Rickettsia heilongjiangii PMID:10970415|PMID:14662925|GC_ID:11 NCBITaxon:131729 ncbi_taxonomy owl:Class MONDO:0008398 biolink:NamedThing salivary substance, Clostridium botulinum type tmpte7i6ely_mondo_relaxed.owl salivary substance, Clostridium botulinum type UMLS:C1867056|OMIM:180950 owl:Class UBERON:0006763 biolink:NamedThing epithelium of conjunctiva tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q14 biolink:NamedThing 13q14 (Human) tmpte7i6ely_mondo_relaxed.owl 54700000 39500000 hg38 owl:Class MONDO:0011043 biolink:NamedThing myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay tmpte7i6ely_mondo_relaxed.owl myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay UMLS:C1832442|OMIM:601347|MESH:C563345 owl:Class MONDO:0003445 biolink:NamedThing extrahepatic bile duct adenoma An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary. tmpte7i6ely_mondo_relaxed.owl adenoma of the extrahepatic bile duct|adenoma of extrahepatic bile duct|extrahepatic bile duct adenoma UMLS:C1331534|NCIT:C5857|DOID:5438 owl:Class MONDO:0013618 biolink:NamedThing craniofacial anomalies and anterior segment dysgenesis syndrome tmpte7i6ely_mondo_relaxed.owl CAASDS|craniofacial anomalies and anterior segment dysgenesis syndrome UMLS:C3280099|OMIM:614195 owl:Class HP:0000668 biolink:NamedThing Hypodontia The absence of five or less teeth from the normal series by a failure to develop. tmpte7i6ely_mondo_relaxed.owl Failure of development of between one and six teeth|Missing between one and six teeth SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608 Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. human_phenotype owl:Class HP:0009804 biolink:NamedThing Tooth agenesis The absence of one or more teeth from the normal series by a failure to develop tmpte7i6ely_mondo_relaxed.owl Decreased tooth count|Decreased number of teeth|Failure of development of some teeth|Fewer teeth than normal|Missing some teeth|Teeth, agenesis|Reduced number of teeth|Tooth agenesis|Dental agenesis UMLS:C4024202|UMLS:C4083050 Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. 2009-02-14T06:20:53Z human_phenotype owl:Class HGNC:29914 biolink:NamedThing NUP107 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017124 biolink:NamedThing noma Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. tmpte7i6ely_mondo_relaxed.owl cancrum oris|oral gangrene|gangrenous stomatitis|noma neonatorum|oro-facial gangrene|oro-facial noma DOID:9672|GARD:0004001|UMLS:C0028271|MedDRA:10029502|Orphanet:2700|NCIT:C34852|EFO:1001063|ICD9:528.1|SCTID:18116006|ICD10:A69.0|MESH:D009625 https://rarediseases.info.nih.gov/diseases/4001/noma owl:Class MONDO:0006536 biolink:NamedThing congenital generalized lipodystrophy An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. tmpte7i6ely_mondo_relaxed.owl congenital generalized lipodystrophy (disease)|hereditary generalized lipodystrophy|familial generalized lipodystrophy|congenital generalized lipodystrophy|lipodystrophy, congenital generalized congenital generalized lipodystrophy (disease) HP:0009059|OMIMPS:608594|EFO:1000681|SCTID:284449005|DOID:0050585 owl:Class MONDO:0005849 biolink:NamedThing milk allergic reaction Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase. tmpte7i6ely_mondo_relaxed.owl milk allergy|milk allergic reaction EFO:0007369|MESH:D016269|DOID:4376|UMLS:C0079840 owl:Class GO:0035235 biolink:NamedThing ionotropic glutamate receptor signaling pathway A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. tmpte7i6ely_mondo_relaxed.owl ionotropic glutamate receptor signalling pathway owl:Class MONDO:0004760 biolink:NamedThing urethral false passage tmpte7i6ely_mondo_relaxed.owl ICD9:599.4|DOID:9339|SCTID:74944002|ICD10:N36.5 owl:Class MONDO:0004184 biolink:NamedThing urethral disorder A disease involving the urethra. tmpte7i6ely_mondo_relaxed.owl disease or disorder of urethra|urethra disorder|disorder of urethra|urethra disease|urethra disease or disorder|disease of urethra SCTID:4985009|NCIT:C26903|UMLS:C0041969|DOID:732|MESH:D014522|ICD10:N36.9 owl:Class MONDO:0015597 biolink:NamedThing pustulosis palmaris et plantaris tmpte7i6ely_mondo_relaxed.owl PPP|LPP|acropustulosis|palmoplantar pustulosis|pustular psoriasis of the palms and/or soles|localized pustular psoriasis|pustulosis of palm and sole GARD:0012820|ICD10:L40.3|ICD9:696.1|DOID:4398|SCTID:27520001|NCIT:C34888|SCTID:81271001|Orphanet:163927|MedDRA:10050185 owl:Class HGNC:19190 biolink:NamedThing DOCK7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006523 biolink:NamedThing acrodermatitis An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected. tmpte7i6ely_mondo_relaxed.owl DOID:2722|UMLS:C0001197|NCIT:C84532|GARD:0005722|CSP:4008-0032|ICD9:686.8|SCTID:8197001|EFO:1000664|MESH:D000169 https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis owl:Class MONDO:0100310 biolink:NamedThing hereditary cerebellar ataxia Cerebellar ataxia that is transmitted from parent to child. tmpte7i6ely_mondo_relaxed.owl hereditary cerebellar ataxia|cerebellar hereditary ataxia NCIT:C140268 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000314 biolink:NamedThing milk secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0034308 biolink:NamedThing primary alcohol metabolic process The chemical reactions and pathways involving primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpte7i6ely_mondo_relaxed.owl monohydric alcohol metabolic process|primary alcohol metabolism owl:Class MONDO:0007556 biolink:NamedThing epidermolysis bullosa simplex 2F, with mottled pigmentation A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. tmpte7i6ely_mondo_relaxed.owl speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|epidermolysis bullosa simplex with mottled pigmentation|EBS with mottled pigmentation|speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|EBSMP|EBS-MP MESH:C535959|OMIM:131960|ICD10:Q81.0|SCTID:254180002|Orphanet:79397|GARD:0009737|ICD9:757.39|DOID:0111346 https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation owl:Class MONDO:0014161 biolink:NamedThing vesicoureteral reflux 7 tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux 7|VUR7 UMLS:C3809337|Orphanet:289365|OMIM:615390 owl:Class MONDO:0014096 biolink:NamedThing microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). tmpte7i6ely_mondo_relaxed.owl WOODS syndrome|Woods-Crouchman-Huson syndrome GARD:0003498|ICD10:Q87.8|UMLS:C0796203|Orphanet:137658|SCTID:719396000|OMIM:615236 https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome owl:Class MONDO:0015325 biolink:NamedThing cataract-deafness-hypogonadism syndrome Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. tmpte7i6ely_mondo_relaxed.owl Schaap-Taylor-Baraitser syndrome Orphanet:1383|ICD10:Q87.8|MESH:C536626|SCTID:722378009 owl:Class UBERON:0006658 biolink:NamedThing interphalangeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011728 biolink:NamedThing blepharospasm Involuntary twitching of the eyelid. tmpte7i6ely_mondo_relaxed.owl benign essential blepharospasm|blepharospasm, benign essential|BEB|blepharospasm, benign essential, susceptibility to UMLS:C0005747|ICD9:333.81|SCTID:59026006|NCIT:C118723|OMIM:606798|GARD:0005909|ICD10:G24.5|MESH:D001764|DOID:529 owl:Class CHEBI:33672 biolink:NamedThing heterobicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. tmpte7i6ely_mondo_relaxed.owl heterobicyclic compounds owl:Class CHEBI:5686 biolink:NamedThing heterocyclic compound A cyclic compound having as ring members atoms of at least two different elements. tmpte7i6ely_mondo_relaxed.owl compuesto heterociclico|heterocycle|compuestos heterociclicos|Heterocyclic compound|heterocyclic compounds owl:Class UBERON:0010330 biolink:NamedThing eyelid mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36059 biolink:NamedThing hydroxy monocarboxylic acid anion Any monocarboxylic acid anion carrying at least one hydroxy substituent. tmpte7i6ely_mondo_relaxed.owl hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anions|hydroxymonocarboxylic acid anion owl:Class MONDO:0044982 biolink:NamedThing drug pseudoallergy tmpte7i6ely_mondo_relaxed.owl drug pseudoallergy|drug allergy SCTID:609398007|UMLS:C3662272 owl:Class HGNC:4204 biolink:NamedThing GCNT2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009582 biolink:NamedThing detection of abiotic stimulus The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl perception of abiotic stimulus owl:Class MONDO:0010097 biolink:NamedThing Tatsumi factor deficiency tmpte7i6ely_mondo_relaxed.owl Tatsumi factor deficiency OMIM:272650|MESH:C564787|UMLS:C1848931 owl:Class UBERON:0015001 biolink:NamedThing radius endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008648 biolink:NamedThing ventricular tachycardia, familial An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl familial ventricular tachycardia|ventricular tachycardia, familial|hereditary ventricular tachycardia|ventricular tachycardia, familial polymorphic OMIM:192605|GARD:0002263|SCTID:233906007 owl:Class MONDO:0011049 biolink:NamedThing fine-Lubinsky syndrome Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. tmpte7i6ely_mondo_relaxed.owl brachycephaly, deafness, cataract and mental retardation|brachycephaly, deafness, cataract and intellectual disability|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract, microstomia, and mental retardation OMIM:601353|SCTID:720955004|GARD:0000958|MESH:C537933|ICD10:Q87.8|Orphanet:1272|UMLS:C0795941 https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome owl:Class CL:0000626 biolink:NamedThing olfactory granule cell Granule cell that is part of the olfactory bulb. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0033352 biolink:NamedThing neuropathy, congenital hypomelinating tmpte7i6ely_mondo_relaxed.owl CHN OMIMPS:605253 owl:Class UBERON:0004447 biolink:NamedThing proximal epiphysis of phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020155 biolink:NamedThing eyelid border anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98564 owl:Class MONDO:0009962 biolink:NamedThing Senior-Loken syndrome 1 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. tmpte7i6ely_mondo_relaxed.owl Senior-Loken syndrome 1|Senior-Loken syndrome|Senior-Loken syndrome type 1|NPHP1 Senior-Loken syndrome|renal dysplasia and retinal aplasia|SENIOR-Loken syndrome 1|juvenile nephronophthisis with Leber amaurosis|Loken-Senior syndrome|renal-retinal syndrome|Senior-Loken syndrome caused by mutation in NPHP1|SLSN1 OMIM:266900|Orphanet:3156|SCTID:236531005|ICD9:759.89 owl:Class UBERON:0010133 biolink:NamedThing neuroendocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002020 biolink:NamedThing protease binding Binding to a protease or a peptidase. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019899 biolink:NamedThing enzyme binding Binding to an enzyme, a protein with catalytic activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021133 biolink:NamedThing acquired factor XIII deficiency An acquired coagulation disorder due to reduced levels and activity of factor XIII. tmpte7i6ely_mondo_relaxed.owl acquired factor XIII deficiency UMLS:C0238120|NCIT:C131629 owl:Class MONDO:0013520 biolink:NamedThing dyskeratosis congenita, autosomal recessive 3 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. tmpte7i6ely_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 3|dyskeratosis congenita, autosomal recessive type 3|DKCB3|autosomal recessive dyskeratosis congenita 3 OMIM:613988|Orphanet:1775|DOID:0070019|UMLS:C3151442 owl:Class MONDO:0015111 biolink:NamedThing gastroesophageal disease tmpte7i6ely_mondo_relaxed.owl Orphanet:101936|UMLS:CN197468 https://github.com/monarch-initiative/mondo/issues/254 owl:Class ENVO:01001526 biolink:NamedThing frozen soil Soil which is below the freezing point of water. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033199 biolink:NamedThing hearing loss, autosomal recessive 107 tmpte7i6ely_mondo_relaxed.owl DFNB107|deafness, autosomal recessive 107|autosomal recessive nonsyndromic deafness 107 Orphanet:90636|DOID:0080262|OMIM:617639 owl:Class MONDO:0005950 biolink:NamedThing Salmonella gastroenteritis Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. tmpte7i6ely_mondo_relaxed.owl Salmonella caused gastroenteritis EFO:0007475|MESH:D012478|ICD9:003.0|SCTID:42338000 owl:Class MONDO:0020649 biolink:NamedThing warty carcinoma of the penis A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases. tmpte7i6ely_mondo_relaxed.owl condylomatous carcinoma of penis|warty carcinoma of penis|warty carcinoma of the penis|squamous cell carcinoma of the penis, condylomatous type|condylomatous squamous cell carcinoma of penis|warty squamous cell carcinoma of the penis|squamous cell carcinoma of penis, warty type|squamous cell carcinoma of penis, condylomatous type|warty squamous cell carcinoma of penis|warty penile squamous cell carcinoma|condylomatous penile squamous cell carcinoma|condylomatous squamous cell carcinoma of the penis|squamous cell carcinoma of the penis, warty type|condylomatous carcinoma of the penis NCIT:C6981|ONCOTREE:WPSCC owl:Class MONDO:0020656 biolink:NamedThing human papillomavirus-related penile squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma. tmpte7i6ely_mondo_relaxed.owl human papilloma virus-related penile squamous cell carcinoma|HPV-related penile squamous cell carcinoma|human papilloma virus related penile squamous cell carcinoma|human papillomavirus-related penile squamous cell carcinoma NCIT:C27682 owl:Class MONDO:0003709 biolink:NamedThing agoraphobia An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. tmpte7i6ely_mondo_relaxed.owl fear of open spaces|fear of open spaces (finding) SCTID:70691001|ICD10:F40.0|ICD10:F40.00|DOID:593|NCIT:C34362|MESH:D000379|EFO:1001872 owl:Class UBERON:0012239 biolink:NamedThing urinary bladder vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000498 biolink:NamedThing increased duration A duration quality of a process which is relatively high. tmpte7i6ely_mondo_relaxed.owl increased period|increased time|prolonged period|high time|slow time|chronic owl:Class MONDO:0013390 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. tmpte7i6ely_mondo_relaxed.owl limb-girdle muscular dystrophy type 2Q|LGMD2Q|muscular dystrophy, limb-girdle, type 2Q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency DOID:0110285|UMLS:C3150989|ICD10:G71.0|Orphanet:254361|GARD:0012542|OMIM:613723 owl:Class MONDO:0006150 biolink:NamedThing colon Burkitt lymphoma A rare Burkitt lymphoma that arises from the colon. tmpte7i6ely_mondo_relaxed.owl colon Burkitts lymphoma|colon Burkitt's lymphoma|Burkitt lymphoma of colon|primary colon Burkitt's lymphoma|colon Burkitt lymphoma|Burkitts lymphoma of colon NCIT:C27465|EFO:1000182|UMLS:C1333083 owl:Class MONDO:0020823 biolink:NamedThing infantile miliaria tmpte7i6ely_mondo_relaxed.owl SCTID:402824003 owl:Class MONDO:0032578 biolink:NamedThing cortical dysplasia, complex, with other brain malformations 9 tmpte7i6ely_mondo_relaxed.owl CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9|CDCBM9 OMIM:618174 owl:Class HGNC:854 biolink:NamedThing ATP6V1B2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002540 biolink:NamedThing mesenchymal stem cell of the bone marrow A mesenchymal stem cell that is part of the bone marrow. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T01:47:47Z cell owl:Class HGNC:13681 biolink:NamedThing DCHS1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:4006001 biolink:NamedThing fibroblast of skin of scalp A fibroblast that is part of the skin of scalp. tmpte7i6ely_mondo_relaxed.owl skin of scalp fibroblast owl:Class MONDO:0007109 biolink:NamedThing congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. tmpte7i6ely_mondo_relaxed.owl dyserythropoietic anemia, congenital type 3|CDA 3|dyserythropoietic Anemia, congenital, type 3|Erythroreticulosis, hereditary benign|CDA III|CDAN3|CDA type III|CDA type 3|congenital dyserythropoietic anemia type 3|anemia, congenital dyserythropoietic, type III|anemia with multinucleated erythroblasts Orphanet:98870|UMLS:C0271934|OMIM:105600|SCTID:26409005|ICD9:285.8|DOID:0111399|ICD10:D64.4|GARD:0002002 owl:Class MONDO:0017892 biolink:NamedThing autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. tmpte7i6ely_mondo_relaxed.owl SYNE1-related AMC|autosomal recessive myogenic AMC|SYNE1-related arthrogryposis multiplex congenita Orphanet:319332|UMLS:CN203942|SCTID:764812008|ICD10:Q74.3 owl:Class MONDO:0022991 biolink:NamedThing diploid-triploid mosaicism Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. tmpte7i6ely_mondo_relaxed.owl diploid/triploid mixoploidy|Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|diploid/triploid mosaicism|Mosaic triploidy UMLS:C0265505|SCTID:10177005|ICD9:758.89|GARD:0010715|MESH:C548012 https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism owl:Class SO:0000248 biolink:NamedThing sequence_length_alteration A kind of kind of sequence alteration where the copies of a region present varies across a population. tmpte7i6ely_mondo_relaxed.owl sequence length alteration owl:Class CHEBI:43474 biolink:NamedThing hydrogenphosphate A phosphate ion that is the conjugate base of dihydrogenphosphate. tmpte7i6ely_mondo_relaxed.owl hydrogenphosphate|hydrogen phosphate|hydrogentetraoxophosphate(V)|INORGANIC PHOSPHATE GROUP|hydrogen(tetraoxidophosphate)(2-)|phosphate|[PO3(OH)](2-)|hydrogentetraoxophosphate(2-)|[P(OH)O3](2-)|HPO4(2-)|hydroxidotrioxidophosphate(2-)|HYDROGENPHOSPHATE ION owl:Class CHEBI:35780 biolink:NamedThing phosphate ion A phosphorus oxoanion that is the conjugate base of phosphoric acid. tmpte7i6ely_mondo_relaxed.owl phosphate ions|Pi|phosphate owl:Class HP:0004360 biolink:NamedThing Abnormality of acid-base homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. tmpte7i6ely_mondo_relaxed.owl Acid base imbalance MSH:D000137|UMLS:C0001118 peter 2008-03-17T03:35:00Z human_phenotype owl:Class CL:0000642 biolink:NamedThing folliculostellate cell A supportive cell of the vertebrate pituitary that provides macromolecular transport and secretes hormones. tmpte7i6ely_mondo_relaxed.owl cell owl:Class UBERON:0003481 biolink:NamedThing tail vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015082 biolink:NamedThing alopecia antibody deficiency tmpte7i6ely_mondo_relaxed.owl IPP-Gelfand syndrome Orphanet:1006 owl:Class GO:0097190 biolink:NamedThing apoptotic signaling pathway A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. tmpte7i6ely_mondo_relaxed.owl apoptotic signalling pathway|induction of apoptosis by extracellular signals owl:Class GO:0007165 biolink:NamedThing signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. tmpte7i6ely_mondo_relaxed.owl signaling cascade|signal transduction by trans-phosphorylation|signal transduction by protein phosphorylation|signaling pathway|signal transduction by conformational transition|signal transduction by cis-phosphorylation|signalling cascade|signalling pathway owl:Class MONDO:0008677 biolink:NamedThing widow's peak tmpte7i6ely_mondo_relaxed.owl widow'S peak|widow's peak|widow's peak (disease) widow's peak (disease) 2022-04-01 HP:0000349|OMIM:194000 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0000349 HP:0000349 owl:Class UBERON:0004241 biolink:NamedThing main bronchus smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004242 biolink:NamedThing bronchus smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061626 biolink:NamedThing pharyngeal arch artery morphogenesis The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. tmpte7i6ely_mondo_relaxed.owl aortic arch artery morphogenesis owl:Class GO:0048844 biolink:NamedThing artery morphogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. tmpte7i6ely_mondo_relaxed.owl arteriogenesis|arterial morphogenesis owl:Class MONDO:0022771 biolink:NamedThing circumscribed disseminated keratosis Jadassohn lew type tmpte7i6ely_mondo_relaxed.owl GARD:0001366 https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type owl:Class MONDO:0014311 biolink:NamedThing autosomal recessive spinocerebellar ataxia 15 Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive type 15|SCAR15|autosomal recessive spinocerebellar ataxia type 15|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN|Salih ataxia|spinocerebellar ataxia, autosomal recessive 15|RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency|RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN Orphanet:404499|ICD10:G11.1|DOID:0080057|UMLS:C3810326|OMIM:615705 owl:Class NCBITaxon:45219 biolink:NamedThing Guanarito mammarenavirus tmpte7i6ely_mondo_relaxed.owl Guanarito arenavirus|GTOV|Guanarito virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008960 biolink:NamedThing Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome|Charcot-Marie-Tooth disease and deafness|Charcot-Marie-tooth disease-deafness-intellectual disability syndrome|neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|deafness with Charcot-Marie-Tooth disease Orphanet:90103|SCTID:715666007|OMIM:214370|ICD10:G60.0 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0019804 biolink:NamedThing tracheomalacia Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. tmpte7i6ely_mondo_relaxed.owl type 1 tracheomalacia|congenital major airway collapse|congenital tracheomalacia|tracheomalacia, congenital UMLS:C0948187|Orphanet:95430|GARD:0010515|SCTID:95467005|ICD10:Q32.0|MedDRA:10010654|DOID:0060313|NCIT:C98634|HP:0002779|ICD9:748.3 owl:Class MONDO:0015505 biolink:NamedThing tracheal anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:156252 owl:Class NCBITaxon:2212703 biolink:NamedThing Mucoromycetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010975 biolink:NamedThing arrhythmogenic right ventricular dysplasia 2 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene. tmpte7i6ely_mondo_relaxed.owl familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2|familial arrhythmogenic right ventricular dysplasia 2|ARVD2|arrhythmogenic right ventricular dysplasia type 2|arrhythmogenic right ventricular dysplasia, familial, 2|arrhythmogenic right ventricular dysplasia, familial, type 2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 2|ARVC2 Orphanet:217656|OMIM:600996|DOID:0110071|ICD10:I42.8|UMLS:C1832931|MESH:C563409 owl:Class CL:0000038 biolink:NamedThing erythroid progenitor cell A progenitor cell committed to the erythroid lineage. tmpte7i6ely_mondo_relaxed.owl BFU-E|erythroid stem cell|CFU-E|colony forming unit erythroid|blast forming unit erythroid|burst forming unit erythroid BTO:0004911 cell owl:Class HGNC:4331 biolink:NamedThing GLS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007721 biolink:NamedThing interphalangeal joint of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019813 biolink:NamedThing congenital tricuspid stenosis tmpte7i6ely_mondo_relaxed.owl ICD10:Q22.4|Orphanet:95459|MedDRA:10010656|SCTID:36233006 owl:Class MONDO:0021298 biolink:NamedThing carcinoma in situ of oropharynx A in situ carcinoma that involves the oropharynx. tmpte7i6ely_mondo_relaxed.owl oropharynx in situ carcinoma|stage 0 oropharyngeal throat cancer|stage 0 oropharyngeal carcinoma aJCC v6|stage 0 oropharyngeal carcinoma aJCC v7|stage 0 oropharyngeal carcinoma aJCC v6 and v7|stage 0 oropharyngeal carcinoma in situ|stage 0 carcinoma of the oropharynx|stage 0 oropharynx carcinoma|oropharynx carcinoma in situ|stage 0 oropharyngeal cancer|oropharyngeal carcinoma in situ|carcinoma in situ of oropharynx|oropharyngeal cancer stage 0|stage 0 oropharyngeal carcinoma|stage 0 carcinoma of oropharynx|carcinoma in situ of the oropharynx SCTID:92668003|UMLS:C0347099|NCIT:C4590 owl:Class MONDO:0100408 biolink:NamedThing acute myeloid leukemia, t(16;21)(q24;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(16;21)(q24;q22) NCIT:C168773 owl:Class MONDO:0019100 biolink:NamedThing neuromyelitis optica Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. tmpte7i6ely_mondo_relaxed.owl Devic's syndrome|NMO|Devic syndrome|Devic disease|Devic's neuromyelitis optica|Devic's disease Orphanet:71211|MESH:D009471|NCIT:C84934|UMLS:C0027873|ICD9:341.0|MedDRA:10029322|EFO:0004256|SCTID:25044007|GARD:0006267|DOID:8869|ICD10:G36.0 https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica owl:Class HP:0009797 biolink:NamedThing Cholesteatoma Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. tmpte7i6ely_mondo_relaxed.owl MSH:D002781|SNOMEDCT_US:363668000|UMLS:C0008373|SNOMEDCT_US:575006 peter 2009-02-11T05:20:04Z human_phenotype owl:Class HP:0008609 biolink:NamedThing Morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear. tmpte7i6ely_mondo_relaxed.owl Middle ear malformation|Morphological abnormality of the middle ear UMLS:C1857456 human_phenotype owl:Class MONDO:0007062 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb, unilateral Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia). tmpte7i6ely_mondo_relaxed.owl digits 2-5 oligodactyly, unilateral|adactylia, unilateral|terminal transverse defects of hand, unilateral|adactylia unilateral|digits 2-5 hypodactyly, unilateral|Adactyly of hand, unilateral ICD10:Q71.3|Orphanet:973|OMIM:102650|Orphanet:294990|MESH:C562417|GARD:0000377 https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral owl:Class MONDO:0017941 biolink:NamedThing chikungunya An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. tmpte7i6ely_mondo_relaxed.owl Chikungunya virus infection|Chikungunya fever|CHIKV infection|Chikungunya virus infectious disease|Chikungunya virus caused disease or disorder|arbovirus A Chikungunya type|CHIK|CK|Chikungunya virus disease or disorder NCIT:C128422|ICD10:A92.0|SCTID:111864006|MESH:D065632|GARD:0006038|DOID:0050012|UMLS:C0008055|Orphanet:324625 https://rarediseases.info.nih.gov/diseases/6038/chikungunya owl:Class MONDO:0004350 biolink:NamedThing pediatric extraocular retinoblastoma Retinoblastoma during childhood that has spread beyond the eye. tmpte7i6ely_mondo_relaxed.owl extraocular retinoblastoma of childhood|childhood metastatic retinoblastoma|pediatric extraocular retinoblastoma|childhood extraocular retinoblastoma|extraocular retinoblastoma NCIT:C9048|UMLS:C1321870|DOID:7747 owl:Class MONDO:0003078 biolink:NamedThing extraocular retinoblastoma Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow. tmpte7i6ely_mondo_relaxed.owl extraocular retinoblastoma|metastatic retinoblastoma DOID:4656|UMLS:C0278719|NCIT:C7848 owl:Class MONDO:0018573 biolink:NamedThing intrauterine growth restriction-short stature-early adult-onset diabetes syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:436144|ICD10:Q87.1|UMLS:CN237586 owl:Class MONDO:0032894 biolink:NamedThing neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY|NEDESBA OMIM:618741 owl:Class MONDO:0100233 biolink:NamedThing long COVID-19 A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction. tmpte7i6ely_mondo_relaxed.owl long-haul COVID-19|PASC|long haul COVID-19|sequelae of COVID-19|post-acute sequelae of COVID-19|post-acute sequelae of SARS-CoV-2 infection http://orcid.org/0000-0001-5208-3432 owl:Class ENVO:01001057 biolink:NamedThing environment associated with a plant part or small plant An environmental system determined by part of a living or dead plant, or a whole small plant. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013508 biolink:NamedThing thoracic vertebra pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017203 biolink:NamedThing chronic endophthalmitis Chronic form of endophthalmitis. tmpte7i6ely_mondo_relaxed.owl endophthalmitis, chronic UMLS:C0154774|ICD9:360.03|ICD10:H44.1|SCTID:13978000|MedDRA:10008864|ICD10:H44.0|DOID:10697|Orphanet:279891 owl:Class ECTO:7000073 biolink:NamedThing exposure to mineral material A exposure event involving the interaction of an exposure receptor to mineral material. tmpte7i6ely_mondo_relaxed.owl mineral material exposure owl:Class MONDO:0019951 biolink:NamedThing rigid spine syndrome Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, merosin positive with early spine rigidity|desmin-related myopathies with Mallory bodies|rigid spine muscular dystrophy-1|rigid spine congenital muscular dystrophy OMIM:602771|Orphanet:97244|MESH:C535683|ICD10:G71.2|GARD:0004723 owl:Class MONDO:0019669 biolink:NamedThing hypochondrogenesis tmpte7i6ely_mondo_relaxed.owl DOID:0080044|ICD10:Q77.0|Orphanet:93297|OMIM:200610 owl:Class MONDO:0032819 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 7 tmpte7i6ely_mondo_relaxed.owl Thyrotropin-Releasing Hormone Resistance, Generalized|hypothyroidism, congenital, nongoitrous, 7|CHNG7|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM:618573 owl:Class MONDO:0002099 biolink:NamedThing Histoplasma capsulatum infectious disease An disease or disorder caused by infection with Histoplasma capsulatum. tmpte7i6ely_mondo_relaxed.owl Histoplasma capsulatum caused disease or disorder|small form histoplasmosis|American histoplasmosis|infection caused by Histoplasma capsulatum|infection by Histoplasma capsulatum|darling's disease|classical histoplasmosis|Histoplasma capsulatum disease or disorder SCTID:76255006|ICD10:B39.4|DOID:1759|ICD9:115.0|ICD9:115.00 owl:Class MONDO:0001478 biolink:NamedThing anisometropia A condition of an inequality of refractive power of the two eyes. tmpte7i6ely_mondo_relaxed.owl anisometropia|anisometropia (disease) anisometropia (disease) HP:0012803|ICD9:367.31|DOID:12273|MESH:D015858|CSP:1116-1678|UMLS:C0003081|SCTID:3289004|ICD10:H52.31 owl:Class MONDO:0018507 biolink:NamedThing microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. tmpte7i6ely_mondo_relaxed.owl Orphanet:423894|UMLS:CN237512|ICD10:G60.0 owl:Class MONDO:0045068 biolink:NamedThing minor salivary gland adenoid cystic carcinoma An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. tmpte7i6ely_mondo_relaxed.owl minor salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of the minor salivary gland|adenoid cystic carcinoma of minor salivary gland UMLS:C1334769|NCIT:C5936 owl:Class MONDO:0001580 biolink:NamedThing lacrimal duct cancer A primary or metastatic malignant neoplasm affecting the lacrimal duct. tmpte7i6ely_mondo_relaxed.owl malignant lacrimal drainage system neoplasm|malignant lacrimal duct tumor|malignant lacrimal duct neoplasm|malignant neoplasm of the lacrimal duct|malignant neoplasm of lacrimal duct|malignant tumor of the lacrimal duct|cancer of lacrimal drainage system|malignant tumor of lacrimal duct|lacrimal drainage system cancer|malignant neoplasm of lacrimal drainage system SCTID:188274004|ICD9:190.7|DOID:12756|NCIT:C3567|UMLS:C0153631 owl:Class MONDO:0030856 biolink:NamedThing developmental and epileptic encephalopathy 89 tmpte7i6ely_mondo_relaxed.owl DEE89|developmental and epileptic encephalopathy 89 OMIM:619124 owl:Class NCBITaxon:945 biolink:NamedThing Ehrlichia chaffeensis tmpte7i6ely_mondo_relaxed.owl PMID:11760958|PMID:1757557|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:106178 biolink:NamedThing canis group tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009102 biolink:NamedThing diaminopentanuria tmpte7i6ely_mondo_relaxed.owl Diaminopentanuria|cystine-lysinuria UMLS:C1857285|OMIM:222350|MESH:C565630 owl:Class GO:0050772 biolink:NamedThing positive regulation of axonogenesis Any process that activates or increases the frequency, rate or extent of axonogenesis. tmpte7i6ely_mondo_relaxed.owl up regulation of axonogenesis|stimulation of axonogenesis|activation of axonogenesis|upregulation of axonogenesis|up-regulation of axonogenesis owl:Class MONDO:0010985 biolink:NamedThing epilepsy, familial adult myoclonic, 1 tmpte7i6ely_mondo_relaxed.owl epilepsy, familial ADULT myoclonic, 1|FAME1|benign adult familial myoclonic epilepsy 1|cortical myoclonic tremor with epilepsy, familial, 1 OMIM:601068|DOID:0111690|UMLS:C1832841|MESH:C563399|Orphanet:86814 owl:Class MONDO:0005563 biolink:NamedThing nut midline carcinoma A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. tmpte7i6ely_mondo_relaxed.owl NUT Midline carcinoma|nuclear protein in testis midline carcinoma|NMC|carcinoma with t(15;19)(q13;p13.1) translocation|NUT carcinoma|NUT midline carcinoma of the head and neck|Midline carcinoma of children and Young adults with NUT rearrangement Orphanet:443167|DOID:0060463|ONCOTREE:NMCHN|ICD10:C80.9|UMLS:CN237663|NCIT:C45716|UMLS:C1707291|Wikipedia:NUT_midline_carcinoma|EFO:0005783 owl:Class MONDO:0013180 biolink:NamedThing asthma-related traits, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl ASRT8|asthma-related traits, susceptibility to, 8|asthma-RELATED traits, susceptibility to, 8|Rhinoconjunctivitis, susceptibility to OMIM:613207 owl:Class MONDO:0010228 biolink:NamedThing hearing loss, X-linked 3 tmpte7i6ely_mondo_relaxed.owl deafness, X-linked 4, congenital sensorineural|DFNX3|deafness X-linked, DFN3|deafness, X-linked 3 OMIM:300030|DOID:0111736|GARD:0001707|Orphanet:90625|MESH:C564727 owl:Class HP:0001396 biolink:NamedThing Cholestasis Impairment of bile flow due to obstruction in bile ducts. tmpte7i6ely_mondo_relaxed.owl Slowed or blocked flow of bile from liver MSH:D002779|UMLS:C0008370|SNOMEDCT_US:30144000|SNOMEDCT_US:33688009|SNOMEDCT_US:197446008 human_phenotype owl:Class MONDO:0001299 biolink:NamedThing diabetic autonomic neuropathy Autonomic neuropathy that is caused by diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl ICD9:337.1|DOID:11503|NCIT:C27068|MESH:D003929|UMLS:C0271686|SCTID:50620007 owl:Class MONDO:0004030 biolink:NamedThing ureter transitional cell carcinoma A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria. tmpte7i6ely_mondo_relaxed.owl transitional cell carcinoma of the ureter|ureteral urothelial cell carcinoma|ureteral transitional cell carcinoma|ureter transitional cell carcinoma|transitional cell carcinoma of ureter|urothelial cell carcinoma of the ureter|ureter urothelial cancer|ureter urothelial carcinoma|urothelial cell carcinoma of ureter UMLS:C0577692|EFO:1001973|DOID:6888|NCIT:C4830|SCTID:300988009 owl:Class MONDO:0003253 biolink:NamedThing vulvar granular cell tumor A usually benign granular cell tumor that arises from the vulva. tmpte7i6ely_mondo_relaxed.owl vulvar granular cell tumor|granular cell tumor of mammalian vulva|mammalian vulva granular cell tumor DOID:5043|NCIT:C40328|UMLS:C1520083 owl:Class MONDO:0018669 biolink:NamedThing snakebite envenomation tmpte7i6ely_mondo_relaxed.owl snake venom poisoning|poisoning caused by venomous snake|snake bite poisoning|toxic effect of bite of venomous snake|snake venom causing toxic effect|poisoning by venomous snake UMLS:CN237735|Orphanet:449285|SCTID:61288004|ICD10:T63.0 owl:Class MONDO:0000568 biolink:NamedThing autoimmune disorder of central nervous system A hypersensitivity reaction type II disease that involves the central nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system hypersensitivity reaction type II disease|central nervous system autoimmune disease DOID:0060004 owl:Class HP:0003549 biolink:NamedThing Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). tmpte7i6ely_mondo_relaxed.owl UMLS:C4025596 human_phenotype owl:Class MONDO:0017126 biolink:NamedThing oculo-skeletal-renal syndrome tmpte7i6ely_mondo_relaxed.owl oculo skeletal renal syndrome UMLS:CN202523|Orphanet:2716|GARD:0004028 https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome owl:Class MONDO:0013426 biolink:NamedThing aneurysm-osteoarthritis syndrome tmpte7i6ely_mondo_relaxed.owl aneurysms-osteoarthritis syndrome|Loeys-Dietz syndrome, type 1C|aneurysm-osteoarthritis syndrome|Loeys-Dietz syndrome 3|Loeys-Dietz syndrome, type 1C (formerly)|Loeys-Dietz syndrome with osteoarthritis|aneurysm - osteoarthritis syndrome|LDS3|Loeys-Dietz syndrome, type 1C, formerly|Loeys-Dietz syndrome type 3|Loeys-Dietz syndrome, type 3 UMLS:C3151087|GARD:0010997|DOID:0070237|Orphanet:284984|OMIM:613795 owl:Class HsapDv:0000080 biolink:NamedThing immature stage Human developmental stage that covers the period from birth until 12 years old. tmpte7i6ely_mondo_relaxed.owl child|0-12 years owl:Class MONDO:0020247 biolink:NamedThing congenital vitreoretinal dysplasia tmpte7i6ely_mondo_relaxed.owl vitreoretinal dysplasia 2022-05-01 ICD9:743.56|ICD10:Q14.1|Orphanet:98669|SCTID:449866003 Reason: out of scope. Term to consider: None owl:Class UBERON:0022292 biolink:NamedThing splenic arteriole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054561 biolink:NamedThing anauxetic dysplasia 2 tmpte7i6ely_mondo_relaxed.owl ANXD2|anauxetic dysplasia 2 OMIM:617396 owl:Class FOODON:00001792 biolink:NamedThing crustacean food product tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20499 biolink:NamedThing L2HGDH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004736 biolink:NamedThing metanephric glomerulus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012150 biolink:NamedThing skeleton of digitopodium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1783257 biolink:NamedThing PVC group tmpte7i6ely_mondo_relaxed.owl PMID:16704931|PMID:23851394|GC_ID:11|PMID:24185849 NCBITaxon:51290 ncbi_taxonomy owl:Class MONDO:0000993 biolink:NamedThing prostate squamous cell carcinoma An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of prostate|prostate gland squamous cell carcinoma|PRSC|squamous cell carcinoma of the prostate|prostate squamous cell carcinoma ONCOTREE:PRSC|SCTID:399590005|UMLS:C1302530|DOID:10287|NCIT:C5536 owl:Class HGNC:19191 biolink:NamedThing DOCK8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001718 biolink:NamedThing scleritis Inflammation of the sclera. tmpte7i6ely_mondo_relaxed.owl scleritis|scleritis (disease) scleritis (disease) SCTID:78370002|HP:0100532|DOID:13452|ICD9:379.00|ICD10:H15.00|GARD:0012911|NCIT:C119046|MESH:D015423|ICD10:H15.0|UMLS:C0036416 owl:Class HGNC:1071 biolink:NamedThing BMP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004110 biolink:NamedThing refractory hairy cell leukemia Hairy cell leukemia that is resistant to treatment. tmpte7i6ely_mondo_relaxed.owl refractory hairy cell leukemia|hairy cell leukemia, refractory DOID:711|NCIT:C8030|UMLS:C0279780 Editor note: TODO refractory DP owl:Class MONDO:0018935 biolink:NamedThing hairy cell leukemia Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections. tmpte7i6ely_mondo_relaxed.owl classic hairy cell leukemia|HCL|HCL-C|hairy cell leukemia|leukemic reticuloendotheliosis MESH:D007943|MedDRA:10019053|SCTID:118613001|Orphanet:58017|ONCOTREE:HCL|NCIT:C7402|ICD10:C91.4|ICDO:9940/3|ICD9:202.4|GARD:0006560|MedDRA:10019055|EFO:1000956|UMLS:C0023443|ICD10:C91.40|DOID:285 owl:Class FOODON:03420122 biolink:NamedThing nonmeat part of animal Bone, feathers, shell, skin or trim fat. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03420127 biolink:NamedThing animal body or body part Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014401 biolink:NamedThing tall stature-scoliosis-macrodactyly of the great toes syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. tmpte7i6ely_mondo_relaxed.owl epiphyseal chondrodysplasia, MIURA type|tall stature-scoliosis-macrodactyly of the halluces syndrome|ECDM|Miura type epiphyseal chondrodysplasia OMIM:615923|UMLS:C4014690|DOID:0070316|Orphanet:329191 owl:Class UBERON:0001268 biolink:NamedThing peritoneal fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006176 biolink:NamedThing cribriform carcinoma A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. tmpte7i6ely_mondo_relaxed.owl cribriform carcinoma NCIT:C3680|UMLS:C0205643|ICDO:8201/3|EFO:1000210 owl:Class NCBITaxon:138948 biolink:NamedThing Enterovirus A tmpte7i6ely_mondo_relaxed.owl Enterovirus EV-A|Coxsackievirus A|Human coxsackievirus A|Human enterovirus A GC_ID:1 NCBITaxon:29269 ncbi_taxonomy owl:Class UBERON:0005251 biolink:NamedThing yolk sac cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012466 biolink:NamedThing extraembryonic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008801 biolink:NamedThing anosmia for isobutyric acid tmpte7i6ely_mondo_relaxed.owl anosmia for isobutyric acid OMIM:207000 owl:Class MONDO:0006228 biolink:NamedThing gastric papillary adenocarcinoma A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores. tmpte7i6ely_mondo_relaxed.owl stomach papillary adenocarcinoma|gastric papillary adenocarcinoma|papillary stomach adenocarcinoma|papillary adenocarcinoma of stomach|papillary adenocarcinoma of the stomach DOID:5593|ONCOTREE:PSTAD|UMLS:C1333785|NCIT:C5472|EFO:1000276 owl:Class MONDO:0003361 biolink:NamedThing small intestinal sarcoma A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of the small intestine|sarcoma, small intestinal|small intestinal sarcoma|sarcoma of the small bowel|sarcoma of small intestine|sarcoma of small bowel|small bowel sarcoma|small intestine sarcoma NCIT:C5335|DOID:5272|UMLS:C1336007 owl:Class UBERON:0012282 biolink:NamedThing mammary fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007452 biolink:NamedThing maturity-onset diabetes of the young type 1 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. tmpte7i6ely_mondo_relaxed.owl maturity-onset diabetes of the young, type 1|diabetes mellitus MODY type 1|maturity onset diabetes of the Young, type 1|MODY HNF4A related|MODY type 1|MODY, type 1|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes|diabetes mellitus type 2|type 1 maturity-onset diabetes of the young|MODY1|mild juvenile diabetes mellitus|HNF4A-associated monogenic diabetes GARD:0003418|MESH:C565101|Orphanet:552|NCIT:C129744|SCTID:609562003|DOID:0111099|UMLS:C1852093|OMIM:125850 https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1 owl:Class UBERON:5003631 biolink:NamedThing pedal digit 1 plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24861 biolink:NamedThing G6PC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021129 biolink:NamedThing microphthalmia Congenital or developmental anomaly in which the eyeballs are abnormally small. tmpte7i6ely_mondo_relaxed.owl simple microphthalmos|nanophthalmos|microphthalmia|microphthalmos HP:0000568|OMIM:610125|OMIM:601186|OMIM:611038|ICD9:743.11|OMIM:611040|OMIM:613094|SCTID:204108000|OMIM:614402|OMIM:309801|OMIMPS:600165|OMIM:600165|NCIT:C98989|ICD10:Q11.2|OMIM:613704|ICD9:743.1|OMIM:609549|OMIM:615972|OMIM:206900|ICD9:743.10|OMIM:607932|DOID:10629|Orphanet:35612|OMIM:610093|OMIM:611897|OMIM:300166|MESH:D008850|EFO:0005569 owl:Class NCBITaxon:178830 biolink:NamedThing Bornaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:25449305 ncbi_taxonomy owl:Class MONDO:0010699 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 5 X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy X type 5|Charcot-Marie-Tooth disease, X-linked recessive, 5|familial opticoacoustic nerve degeneration and polyneuropathy|Charcot-Marie-Tooth disease X-linked recessive type 5|Charcot-Marie-Tooth disease, X-linked recessive, type 5|CMTX5|Rosenberg-Chutorian syndrome|X-linked Charcot-Marie-Tooth disease type 5|Charcot-Marie-Tooth neuropathy X-linked recessive 5|Charcot-Marie-Tooth neuropathy, X-linked recessive, 5|optic atrophy, sensorineural hearing loss and polyneuropathy|optic atrophy, polyneuropathy, and deafness|CMT5X Orphanet:99014|GARD:0000114|UMLS:C1839566|OMIM:311070|ICD10:G60.0|DOID:0110210|SCTID:763460007 owl:Class MONDO:0002485 biolink:NamedThing breast neuroendocrine neoplasm A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare. tmpte7i6ely_mondo_relaxed.owl neuroendocrine neoplasm of the breast|breast neuroendocrine neoplasm|breast endocrine neoplasm|neuroendocrine tumor of the breast|breast neuroendocrine tumor|breast NET|breast neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of breast DOID:3009|NCIT:C5169|UMLS:C1332635 owl:Class CL:0000100 biolink:NamedThing motor neuron An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement. tmpte7i6ely_mondo_relaxed.owl motoneuron FMA:83617|WBbt:0005409|BTO:0000312 cell owl:Class MONDO:0010106 biolink:NamedThing testes, rudimentary tmpte7i6ely_mondo_relaxed.owl testes, rudimentary OMIM:273150 owl:Class CHEBI:62803 biolink:NamedThing fuel additive Any additive that enhances the efficiency of fuel. tmpte7i6ely_mondo_relaxed.owl fuel enhancer|fuel additives owl:Class MONDO:0006947 biolink:NamedThing renovascular hypertension High blood pressure secondary to renal artery stenosis. tmpte7i6ely_mondo_relaxed.owl renovascular hypertension|renovascular hypertension (disease) renovascular hypertension (disease) ICD10:I15.0|NCIT:C85044|SCTID:123799005|ICD9:405.91|HP:0100817|EFO:1001153|DOID:1591|UMLS:C0020545 owl:Class UBERON:0014716 biolink:NamedThing interlobular duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006834 biolink:NamedThing lip cancer A primary or metastatic malignant neoplasm involving the lip. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of vermilion border of lip|malignant neoplasm of lip, unspecified|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant tumor of the Lip|malignant tumor of commissure of lip|malignant lip neoplasm|malignant tumor of lower labial mucosa|malignant neoplasm of lip, unspecified, inner aspect|malignant neoplasm of lip|malignant neoplasm of lower lip, mucosa|cancer of lip|malignant tumor of labial mucosa|malignant tumour of labial commissure|malignant neoplasm of labial commissure of lip|malignant neoplasm of lip, inner aspect|malignant neoplasm of lip, unspecified, vermilion border|malignant neoplasm of lip, external|malignant Lip neoplasm|malignant tumour of lip|malignant neoplasm of lower lip, inner aspect|malignant neoplasm of external Lip, not specified as upper or lower|malignant neoplasm of lower lip, buccal aspect|malignant neoplasm of Lip|malignant neoplasm of lip, vermilion border|malignant tumor of Lip|malignant neoplasm of lower lip, oral aspect|malignant Lip tumor|lip cancer|malignant neoplasm of the Lip|malignant neoplasm of commissure of lip|malignant neoplasm of other sites of lip ICD9:140.5|ICD9:140.8|ICD10:C00.9|SCTID:187622006|DOID:8564|MESH:D008048|EFO:1001019|NCIT:C7485|ICD9:140.6|ICD9:140|MedDRA:10007089|ICD10:C00 owl:Class MONDO:0005163 biolink:NamedThing simian immunodeficiency virus infection An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus. tmpte7i6ely_mondo_relaxed.owl Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus disease or disorder|Simian immunodeficiency virus infectious disease EFO:0001675 owl:Class MONDO:0021392 biolink:NamedThing polyp of large intestine A polyp that involves the large intestine. tmpte7i6ely_mondo_relaxed.owl polyp of the large intestine|polyp of large bowel|polyp of the large bowel|large intestine polyp|large bowel polyp|colorectal polyp UMLS:C0949059|SCTID:399505005|NCIT:C5679 owl:Class MONDO:0001095 biolink:NamedThing mediastinum neuroblastoma A neuroblastoma arising from the mediastinum. tmpte7i6ely_mondo_relaxed.owl neuroblastoma of mediastinum|neuroblastoma of the mediastinum|mediastinum neuroblastoma|mediastinal neuroblastoma UMLS:C1334673|DOID:10660|EFO:1000367|NCIT:C6628 owl:Class OBO:MFOMD_0000122 biolink:NamedThing phobia A persistent, irrational fear of a specific object, activity, or situation (the phobic stimulus) that results in a compelling desire to avoid it. DSM-IV-TR (american Psychiatric Association) tmpte7i6ely_mondo_relaxed.owl This often leads either to avoidance of the phobic stimulus or to enduring it with dread. owl:Class NCBITaxon:5809 biolink:NamedThing Sarcocystidae tmpte7i6ely_mondo_relaxed.owl Sarcocystids GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012136 biolink:NamedThing carnitine palmitoyl transferase II deficiency, neonatal form The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. tmpte7i6ely_mondo_relaxed.owl Carnitine palmitoyl transferase II deficiency, lethal systemic form|carnitine palmitoyl transferase II deficiency, neonatal form|Cpt2 deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|CPT2, neonatal form|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|CPTII, neonatal form|Carnitine Palmitoyltransferase 2 deficiency, neonatal|Carnitine Palmitoyltransferase 2 deficiency, antenatal|CPT 2 deficiency, lethal neonatal|Carnitine palmitoyl transferase deficiency type 2, neonatal form|CPTII, lethal systemic form|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal|CPT2, lethal systemic form Orphanet:157|UMLS:C1833518|ICD10:E71.3|Orphanet:228308|MESH:C563463|OMIM:608836 owl:Class MONDO:0015515 biolink:NamedThing carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. tmpte7i6ely_mondo_relaxed.owl CPT II deficiency|carnitine palmitoyltransferase II deficiency|CPT-II|Carnitine palmitoyltransferase II (CPT II) deficiency|late-onset carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase deficiency type 2|CPTII|Carnitine palmitoyltransferase 2 deficiency|CPT2|infantile carnitine palmitoyltransferase II deficiency|lethal neonatal carnitine palmitoyltransferase II deficiency NCIT:C114766|OMIM:255110|MESH:C535589|OMIM:600649|ICD10:E71.3|ICD9:277.85|SCTID:238002005|OMIM:608836|GARD:0001121|UMLS:C0342790|HGNC:2330|Orphanet:157|DOID:0060235 https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency owl:Class MONDO:0000645 biolink:NamedThing fallopian tube benign neoplasm A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma. tmpte7i6ely_mondo_relaxed.owl fallopian tube neoplasm, benign|benign fallopian tube tumor|benign tumor of fallopian tube|benign neoplasm of the fallopian tube|benign fallopian tube neoplasm|benign tumor of the fallopian tube|benign neoplasm of fallopian tube|fallopian tube benign neoplasm|fallopian tube tumor, benign|benign tumor of fallopian tubes MedDRA:10053865|DOID:0060111|NCIT:C4517|SCTID:92100009|Orphanet:180237|UMLS:C0346190|ICD10:D28.2 owl:Class MONDO:0011850 biolink:NamedThing migraine with or without aura, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, 5|migraine with or without aura, susceptibility to, type 5|Mgr5 OMIM:607508 owl:Class UBERON:0004185 biolink:NamedThing endodermal part of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016522 biolink:NamedThing cavity of right atrium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031336 biolink:NamedThing negative regulation of sulfur amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpte7i6ely_mondo_relaxed.owl negative regulation of sulfur amino acid metabolism|inhibition of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|down-regulation of sulfur amino acid metabolic process owl:Class HGNC:20800 biolink:NamedThing SLC35D1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022782 biolink:NamedThing cleft lower lip cleft lateral canthi chorioretinal tmpte7i6ely_mondo_relaxed.owl GARD:0001386 https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal owl:Class GO:0009411 biolink:NamedThing response to UV Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. tmpte7i6ely_mondo_relaxed.owl response to UV light stimulus|response to ultraviolet radiation stimulus|response to ultraviolet light stimulus|response to UV radiation stimulus owl:Class GO:0080145 biolink:NamedThing cysteine homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0055081 biolink:NamedThing anion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008694 biolink:NamedThing pseudoprogeria syndrome Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. tmpte7i6ely_mondo_relaxed.owl absent eyebrows and eyelashes with intellectual disability|intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|pseudoprogeria syndrome|absent eyebrows and eyelashes-intellectual disability syndrome|absent eyebrows and eyelashes with mental retardation|eyebrows and eyelashes absence-intellectual disability syndrome|mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|Hal-Berg-Rudolph syndrome GARD:0000415|ICD10:Q87.8|Orphanet:2985|SCTID:733086003|UMLS:C0796125|MESH:C563111|OMIM:200130 https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome owl:Class GO:0048520 biolink:NamedThing positive regulation of behavior Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpte7i6ely_mondo_relaxed.owl stimulation of behavior|up regulation of behavior|up-regulation of behavior|activation of behavior|upregulation of behavior owl:Class MONDO:0009814 biolink:NamedThing osteopenia-intellectual disability-sparse hair syndrome Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl Kaler Garrity Stern syndrome|osteopenia mental retardation sparse hair|osteopenia and sparse hair|Kaler-Garrity-Stern syndrome|osteopenia intellectual disability sparse hair OMIM:259690|SCTID:732954002|Orphanet:2324|GARD:0000354|UMLS:C1850140|MESH:C537706 owl:Class GO:0010558 biolink:NamedThing negative regulation of macromolecule biosynthetic process Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001292 biolink:NamedThing distal convoluted tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008142 biolink:NamedThing Thiemann disease, familial form Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. tmpte7i6ely_mondo_relaxed.owl osteoarthropathy of fingers, familial|aseptic necrosis of phalangeal epiphyses|osteochondritis of phalangeal epiphyses|THIEMANN disease|Thiemann's disease|osteoarthropathy of fingers familial|Thiemann epiphyseal disease|Osteochondrosis of phalangeal epiphyses Orphanet:3314|OMIM:165700|ICD10:M93.2|ICD9:716.84|SCTID:55166000|MESH:C537144|GARD:0004131|UMLS:C0264081 owl:Class MONDO:0018385 biolink:NamedThing osteochondrosis of genetic origin An instance of osteochondrosis that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic osteochondrosis Orphanet:399391|ICD10:M93.9 owl:Class MONDO:0006169 biolink:NamedThing complex endometrial hyperplasia A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent. tmpte7i6ely_mondo_relaxed.owl EFO:1000202|NCIT:C35423|SCTID:198322002|UMLS:C0349578|ICD9:621.32 owl:Class MONDO:0030982 biolink:NamedThing sulfide quinone oxidoreductase deficiency tmpte7i6ely_mondo_relaxed.owl sulfide:quinone oxidoreductase deficiency|SQORD OMIM:619221 owl:Class MONDO:0014880 biolink:NamedThing Duane retraction syndrome 3 with or without deafness Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. tmpte7i6ely_mondo_relaxed.owl DURS3|Duane retraction syndrome caused by mutation in MAFB|Duane syndrome type 3|MAFB Duane retraction syndrome|Duane retraction syndrome 3|Duane retraction syndrome 3 with or without deafness UMLS:C4310752|Orphanet:233|OMIM:617041|GARD:0010691|OMIM:126800 https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3 owl:Class HGNC:3600 biolink:NamedThing FBLN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010098 biolink:NamedThing taurodontism Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome. tmpte7i6ely_mondo_relaxed.owl taurodontism (disease)|Bull teeth|taurodontism|large pulp chambers in the molars taurodontism (disease) OMIM:272700|GARD:0005119|HP:0000679|MESH:C536946|Orphanet:3289|UMLS:C0266039|SCTID:51744007|ICD10:K00.2 owl:Class GO:0006547 biolink:NamedThing histidine metabolic process The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. tmpte7i6ely_mondo_relaxed.owl histidine metabolism owl:Class UBERON:0003715 biolink:NamedThing splanchnic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043206 biolink:NamedThing trichostasis spinulosa Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown. tmpte7i6ely_mondo_relaxed.owl elevated dark spiny papules on the face or trunk|trichostasis spinulosa GARD:0005269|MESH:C536558|UMLS:C0263487|SCTID:21049007 owl:Class UBERON:0009133 biolink:NamedThing pleuroperitoneal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011367 biolink:NamedThing Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally. tmpte7i6ely_mondo_relaxed.owl acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia OMIM:603740|MESH:C538181|GARD:0010076|UMLS:C1863556 https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia owl:Class NCBITaxon:786 biolink:NamedThing Rickettsia akari tmpte7i6ely_mondo_relaxed.owl Dermacentroxenus murinus|Gamasoxenus muris|rickettsialpox|agent of rickettsialpox GC_ID:11 ncbi_taxonomy owl:Class UBERON:0000484 biolink:NamedThing simple cuboidal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015522 biolink:NamedThing situs ambiguus tmpte7i6ely_mondo_relaxed.owl partial situs inversus|situs ambiguous|incomplete situs inversus SCTID:14821001|MedDRA:10059119|Orphanet:157769|ICD10:Q89.3|GARD:0010875 owl:Class GO:0004345 biolink:NamedThing glucose-6-phosphate dehydrogenase activity Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+. tmpte7i6ely_mondo_relaxed.owl G6PD activity|6-phosphoglucose dehydrogenas|glucose 6-phosphate dehydrogenase (NADP) activity|GDH|NADP-glucose-6-phosphate dehydrogenase activity|D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity|Zwischenferment|D-glucose 6-phosphate dehydrogenase activity|Entner-doudoroff enzyme|zwischenferment|6-phosphoglucose dehydrogenase activity|G6PDH|glucose-6-phosphate 1-dehydrogenase activity|NADP-dependent glucose 6-phosphate dehydrogenase activity owl:Class GO:0016616 biolink:NamedThing oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. tmpte7i6ely_mondo_relaxed.owl glycolate reductase|NADH-dependent glyoxylate reductase|glyoxylic acid reductase owl:Class MONDO:0005623 biolink:NamedThing autoimmune thyroid disease Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. tmpte7i6ely_mondo_relaxed.owl lymphomatous thyroiditides|thyroiditides, lymphomatous|thyroiditis, lymphomatous|autoimmune thyroid gland inflammation|lymphocytic thyroiditis|lymphomatous thyroiditis|autoimmune thyroiditis|thyroiditides, lymphocytic|thyroiditis, lymphocytic|thyroiditides, autoimmune|lymphocytic thyroiditides|autoimmune thyroiditides GARD:0006945|MESH:D013967|EFO:0006812|Wikipedia:Autoimmune_thyroiditis|DOID:7188 Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) owl:Class GO:0043065 biolink:NamedThing positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. tmpte7i6ely_mondo_relaxed.owl stimulation of apoptosis|pro-apoptosis|up regulation of apoptosis|positive regulation of apoptosis|upregulation of apoptosis|activation of apoptosis|up-regulation of apoptosis owl:Class GO:0097325 biolink:NamedThing melanocyte proliferation The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050673 biolink:NamedThing epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050769 biolink:NamedThing positive regulation of neurogenesis Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpte7i6ely_mondo_relaxed.owl up regulation of neurogenesis|stimulation of neurogenesis|up-regulation of neurogenesis|activation of neurogenesis|upregulation of neurogenesis owl:Class GO:0030202 biolink:NamedThing heparin metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. tmpte7i6ely_mondo_relaxed.owl heparan sulfate metabolic process|heparin metabolism owl:Class MONDO:0013911 biolink:NamedThing hypogonadotropic hypogonadism 9 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene. tmpte7i6ely_mondo_relaxed.owl HH9|hypogonadotropic hypogonadism caused by mutation in NSMF|NSMF hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 9 with or without anosmia DOID:0090085|ICD10:E23.0|OMIM:614838|UMLS:C3553842 owl:Class MONDO:0012179 biolink:NamedThing narcolepsy 3 tmpte7i6ely_mondo_relaxed.owl narcolepsy 3|NRCLP3 UMLS:C1836907|Orphanet:2073|OMIM:609039 owl:Class MONDO:0001843 biolink:NamedThing uterus interstitial leiomyoma tmpte7i6ely_mondo_relaxed.owl intramural leiomyoma of uterus ICD9:218.1|DOID:13955|ICD10:D25.1|UMLS:C0153994|SCTID:93616000 owl:Class MONDO:0009969 biolink:NamedThing renal-genital-middle ear anomalies tmpte7i6ely_mondo_relaxed.owl renal, genital, and middle EAR anomalies|renal genital middle ear anomalies ICD10:Q87.8|Orphanet:1092|UMLS:C1849432|MESH:C564849|OMIM:267400|GARD:0004664 https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies owl:Class GO:2000181 biolink:NamedThing negative regulation of blood vessel morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015800 biolink:NamedThing acidic amino acid transport The directed movement of acidic amino acids, amino acids with a pH below 7, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009986 biolink:NamedThing retinopathy, pigmentary, and intellectual disability tmpte7i6ely_mondo_relaxed.owl retinal pigmentary degeneration, microcephaly, and severe intellectual disability|retinal pigmentary degeneration, microcephaly, and severe mental retardation|Mirhosseini-Holmes-Walton syndrome|retinopathy pigmentary intellectual disability|retinopathy pigmentary mental retardation|retinopathy, pigmentary, and intellectual disability|retinopathy, pigmentary, and mental retardation GARD:0004688|MESH:C538367|Orphanet:3084|OMIM:268050 owl:Class UBERON:0013777 biolink:NamedThing skin of palm of manus tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011514 biolink:NamedThing Abnormality of binocular vision An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023320 peter 2012-04-06T06:00:34Z human_phenotype owl:Class GO:0002580 biolink:NamedThing regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpte7i6ely_mondo_relaxed.owl regulation of peptide or polysaccharide antigen processing and presentation via MHC class II owl:Class UBERON:0003449 biolink:NamedThing tail intervertebral disc tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097734 biolink:NamedThing extracellular exosome biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. tmpte7i6ely_mondo_relaxed.owl exosome assembly or secretion|exosome production|ILV assembly|intraluminal vesicle assembly|exosome biogenesis owl:Class GO:0140112 biolink:NamedThing extracellular vesicle biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. tmpte7i6ely_mondo_relaxed.owl extracellular vesicle assembly owl:Class MONDO:0001399 biolink:NamedThing ureter leiomyoma A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of ureter|leiomyoma of the ureter|ureter leiomyoma|ureteral leiomyoma DOID:11887|NCIT:C6161|UMLS:C1336875 owl:Class MONDO:0100430 biolink:NamedThing fibrotic liver disease A liver disease characterized by the presence of excessive fibrous connective tissue in the liver. tmpte7i6ely_mondo_relaxed.owl hepatic fibrosis (disease)|liver fibrosis (disease) http://orcid.org/0000-0001-5208-3432 owl:Class GO:0006572 biolink:NamedThing tyrosine catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpte7i6ely_mondo_relaxed.owl tyrosine catabolism|tyrosine breakdown|tyrosine degradation owl:Class GO:1901606 biolink:NamedThing alpha-amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. tmpte7i6ely_mondo_relaxed.owl alpha-amino acid catabolism|alpha-amino acid breakdown|alpha-amino acid degradation owl:Class GO:0051968 biolink:NamedThing positive regulation of synaptic transmission, glutamatergic Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpte7i6ely_mondo_relaxed.owl up regulation of synaptic transmission, glutamatergic|upregulation of synaptic transmission, glutamatergic|activation of synaptic transmission, glutamatergic|stimulation of synaptic transmission, glutamatergic|up-regulation of synaptic transmission, glutamatergic owl:Class MONDO:0013817 biolink:NamedThing preeclampsia/eclampsia 5 Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. tmpte7i6ely_mondo_relaxed.owl PEE5|preeclampsia caused by mutation in CORIN|Preeclampsia/eclampsia type 5|CORIN preeclampsia|preeclampsia caused by mutation in Corin|Corin preeclampsia|PREECLAMPSIA/eclampsia 5|preeclampsia/eclampsia 5 OMIM:614595|UMLS:C3281288|Orphanet:275555 owl:Class MONDO:0043314 biolink:NamedThing aquarium granuloma A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure. tmpte7i6ely_mondo_relaxed.owl aquarium granuloma|swimming pool granuloma|Mycobacterium marinum infection|Mycobacterium marinum skin disease|fish tank granuloma|Mycobacterium marinum caused skin disease|M. marinum GARD:0009712|UMLS:C0275708|MESH:C535526|SCTID:240417004 owl:Class MONDO:0013118 biolink:NamedThing Nijmegen breakage syndrome-like disorder Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. tmpte7i6ely_mondo_relaxed.owl NBs-like disorder|RAD50 deficiency|Rad50 deficiency|Nijmegen breakage syndrome-like disorder|microcephaly and spontaneous chromosome instability without immunodeficiency|NBSLD|microcephaly and chromosomal instability without immunodeficiency SCTID:766753005|UMLS:C2751318|MESH:C567767|Orphanet:240760|OMIM:613078|NCIT:C153178 owl:Class HGNC:14540 biolink:NamedThing WNK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013886 biolink:NamedThing nonprogressive cerebellar atxia with intellectual disability Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). tmpte7i6ely_mondo_relaxed.owl nonprogressive cerebellar atxia with intellectual disability|cerebellar ataxia, nonprogressive, with intellectual disability|CANPMR|cerebellar ataxia, nonprogressive, with mental retardation|nonprogressive cerebellar ataxia with intellectual disability|nonprogressive cerebellar ataxia with mental retardation|non-progressive cerebellar ataxia with intellectual disability DOID:0050998|Orphanet:314647|UMLS:C3553661|ICD10:G11.0|OMIM:614756|SCTID:723441001 owl:Class MONDO:0000741 biolink:NamedThing angular cheilitis Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. tmpte7i6ely_mondo_relaxed.owl cheilosis|cheilitis of angle of oral opening|angular cheilosis|angular stomatitis|angle of oral opening cheilitis|perlèche|angular cheilitis|perleche|commissural cheilitis UMLS:C0007971|UMLS:C0221264|SCTID:16459000|SCTID:7847004|NCIT:C112198|ICD10:K13.0|MESH:D002613|DOID:0060312|UMLS:C0221237 owl:Class MONDO:0021191 biolink:NamedThing malignant ependymoma A malignant form of ependymoma. tmpte7i6ely_mondo_relaxed.owl ependymal tumors|ependymoma, malignant 2022-05-01 DOID:5074|UMLS_CUI:C1333407 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0000082 biolink:NamedThing pelvic organ prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence. tmpte7i6ely_mondo_relaxed.owl UMLS:C0877015|EFO:0004710|MESH:D056887|SCTID:237113009 Text of OMIM 613088 points to OMIM 176780 for disease description. owl:Class GO:0050909 biolink:NamedThing sensory perception of taste The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl sense of taste|taste perception|gustation|taste owl:Class MONDO:0006524 biolink:NamedThing acrodermatitis chronica atrophicans An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. tmpte7i6ely_mondo_relaxed.owl primary diffuse atrophy|Herxheimer disease ICD10:L90.4|SCTID:4340003|UMLS:C0263421|DERMO:0002165|DOID:0060344|EFO:1000665|ICD9:701.8 owl:Class MONDO:0013310 biolink:NamedThing congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. tmpte7i6ely_mondo_relaxed.owl POR deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency|disordered steroidogenesis due to POR deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase|congenital adrenal hyperplasia due to cytochrome POR deficiency|PORD OMIM:613571|ICD10:E25.0|SCTID:715733000|Orphanet:418|Orphanet:95699|GARD:0012664 https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency owl:Class GO:0004046 biolink:NamedThing aminoacylase activity Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid. tmpte7i6ely_mondo_relaxed.owl short acyl amidoacylase activity|hippurase activity|aminoacylase I activity|dehydropeptidase II activity|acylase I activity|alpha-N-acylaminoacid hydrolase activity|N-acyl-L-amino-acid amidohydrolase activity|amido acid deacylase activity|L-aminoacylase activity|histozyme activity|long acyl amidoacylase activity|L-amino-acid acylase activity|benzamidase activity owl:Class GO:0016811 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:15841 biolink:NamedThing polypeptide A peptide containing ten or more amino acid residues. tmpte7i6ely_mondo_relaxed.owl Polypeptide|polypeptides|polipeptido|Polypeptid owl:Class MONDO:0014884 biolink:NamedThing cholestasis, progressive familial intrahepatic, 5 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. tmpte7i6ely_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, 5|NR1H4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, 5; PFIC5|PFIC5|NR1H4 deficiency|cholestasis, progressive familial intrahepatic, type 5|progressive familial intrahepatic cholestasis caused by mutation in NR1H4 UMLS:C4310747|OMIM:617049|Orphanet:480476|UMLS:CN776839|DOID:0070225 MONDO:0018802 owl:Class UBERON:0003295 biolink:NamedThing pharyngeal gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051885 biolink:NamedThing positive regulation of timing of anagen Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpte7i6ely_mondo_relaxed.owl up-regulation of anagen|upregulation of anagen|up regulation of anagen|stimulation of anagen|positive regulation of anagen|activation of anagen owl:Class HGNC:11497 biolink:NamedThing SYNGAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003771 biolink:NamedThing jugular foramen meningioma A meningioma that affects the jugular foramen. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of jugular foramen|jugular foramen meningioma (disease)|meningioma of jugular Foramen|meningioma of the jugular Foramen DOID:6110|NCIT:C5293|UMLS:C1334298 owl:Class MONDO:0014092 biolink:NamedThing schizophrenia 18 A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2. tmpte7i6ely_mondo_relaxed.owl schizophrenia 18|chromosome 7q36.3 Duplication syndrome, 362-Kb|schizoaffective disorder|SCZD18|schizophrenia type 18|schizophrenia 18 with or without an affective disorder OMIM:615232|DOID:0070093|UMLS:C3808913 owl:Class HP:0030016 biolink:NamedThing Dyspareunia Recurrent or persistent genital pain associated with sexual intercourse. tmpte7i6ely_mondo_relaxed.owl UMLS:C1384606|MSH:D004414|SNOMEDCT_US:71315007 Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. human_phenotype owl:Class HP:0030014 biolink:NamedThing Female sexual dysfunction A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpte7i6ely_mondo_relaxed.owl UMLS:C1112442 human_phenotype owl:Class UBERON:0001607 biolink:NamedThing sphincter pupillae tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044642 biolink:NamedThing c11orf73-related autosomal recessive hypomyelinating leukodystrophy tmpte7i6ely_mondo_relaxed.owl hypomyelinating leukodystrophy due to hikeshi deficiency|C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy Orphanet:495844 owl:Class UBERON:0003314 biolink:NamedThing eye mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002703 biolink:NamedThing regulation of leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl regulation of leucocyte mediated immunity|regulation of immune cell mediated immunity owl:Class IAO:8000001 biolink:NamedThing base ontology module An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies. tmpte7i6ely_mondo_relaxed.owl base ontology module owl:Class MONDO:0008101 biolink:NamedThing familial supernumerary nipples Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. tmpte7i6ely_mondo_relaxed.owl polythelia, familial|polymastia|isolated polythelia|nipples, supernumerary|accessory nipples OMIM:163700|Orphanet:2456|ICD10:Q83.3 owl:Class MONDO:0015854 biolink:NamedThing supernumerary breasts tmpte7i6ely_mondo_relaxed.owl accessory breasts|polymastia Orphanet:180182|ICD10:Q83.1|MedDRA:10049786 owl:Class MONDO:0005503 biolink:NamedThing developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. tmpte7i6ely_mondo_relaxed.owl developmental mental disorder|developmental disorder of mental health ICD9:315.8|EFO:0005548|SCTID:129104009|DOID:0060037 MONDO:0700092 owl:Class CHEBI:59174 biolink:NamedThing hapten Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. tmpte7i6ely_mondo_relaxed.owl haptens owl:Class HP:0031058 biolink:NamedThing Impairment of activities of daily living Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. tmpte7i6ely_mondo_relaxed.owl 2017-05-28 22:14:33+00:00 peter human_phenotype owl:Class HP:0025142 biolink:NamedThing Constitutional symptom A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. tmpte7i6ely_mondo_relaxed.owl 2016-11-29 11:02:54+00:00 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. HPO:probinson human_phenotype owl:Class ENVO:09000004 biolink:NamedThing amount of carbon atom in environmental material The amount of a carbon atom when measured in environmental material. tmpte7i6ely_mondo_relaxed.owl environmental material carbon atom amount owl:Class HGNC:15455 biolink:NamedThing MBTPS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011914 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome tmpte7i6ely_mondo_relaxed.owl hypotrichosis-lymphedema-telangiectasia syndrome|HLTS DOID:0111361|OMIM:607823|MESH:C564327|UMLS:C1843004|Orphanet:69735 owl:Class MONDO:0010506 biolink:NamedThing intellectual disability, X-linked 61 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 61|RLIM non-syndromic X-linked intellectual disability|intellectual disability, X-linked 61|non-syndromic X-linked intellectual disability caused by mutation in RLIM|MRX61|intellectual disability, X-linked type 61|mental retardation, X-linked type 61 OMIM:300978|UMLS:C4283894 owl:Class NBO:0000006 biolink:NamedThing learning and/or memory behavior "Behavior related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [GO:jic] tmpte7i6ely_mondo_relaxed.owl learning and/or memory behaviour owl:Class NBO:0000607 biolink:NamedThing cognitive behavior "Behaviour related to cognitive processes." [NBO:JH] tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009817 biolink:NamedThing autosomal recessive osteopetrosis 5 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene. tmpte7i6ely_mondo_relaxed.owl OSTM1 osteopetrosis (disease)|osteopetrosis, autosomal recessive type 5|osteopetrosis infantile malignant 3|osteopetrosis, infantile malignant 3|osteopetrosis, autosomal recessive 5|autosomal recessive osteopetrosis 5|OPTB5|infantile malignant osteopetrosis 3|autosomal recessive osteopetrosis type 5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis autosomal recessive 5 GARD:0004153|OMIM:259720|MESH:C566883|DOID:0110939|Orphanet:85179 https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5 owl:Class NCBITaxon:1980476 biolink:NamedThing Laguna Negra orthohantavirus tmpte7i6ely_mondo_relaxed.owl Laguna Negra virus|Laguna Negra hantavirus GC_ID:1 NCBITaxon:61172 ncbi_taxonomy owl:Class MONDO:0019506 biolink:NamedThing obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. tmpte7i6ely_mondo_relaxed.owl UMLS:CN227640|Orphanet:88643|SCTID:722051004 owl:Class MONDO:0020373 biolink:NamedThing early-onset anterior polar cataract tmpte7i6ely_mondo_relaxed.owl early-onset anterior subcapsular cataract|cataract anterior polar ICD10:Q12.0|GARD:0001140|Orphanet:98988|UMLS:C1855179|OMIM:601202 owl:Class CHEBI:48407 biolink:NamedThing antiparkinson drug A drug used in the treatment of Parkinson's disease. tmpte7i6ely_mondo_relaxed.owl antiparkinson agent owl:Class CHEBI:66956 biolink:NamedThing antidyskinesia agent Any compound which can be used to treat or alleviate the symptoms of dyskinesia. tmpte7i6ely_mondo_relaxed.owl antidyskinetic drug|antidyskinetic agents|antidyskinetic agent|antidyskinesia drugs|antidyskinetic drugs|antidyskinesia agents|antidyskinesia drug owl:Class MONDO:0006135 biolink:NamedThing cervical clear cell adenocarcinoma A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES). tmpte7i6ely_mondo_relaxed.owl clear cell adenocarcinoma of cervix uteri|cervical clear cell carcinoma|clear cell adenocarcinoma of the cervix|clear cell adenocarcinoma of uterine cervix|clear cell carcinoma of the cervix|clear cell carcinoma of cervix uteri|cervix clear cell carcinoma|clear cell adenocarcinoma of the cervix uteri|clear cell carcinoma of uterine cervix|clear cell adenocarcinoma of cervix|clear cell carcinoma of the cervix uteri|clear cell carcinoma of the uterine cervix|cervical clear cell adenocarcinoma|uterine cervix clear cell carcinoma|clear cell adenocarcinoma of the uterine cervix|cervix uteri clear cell carcinoma|cervix uteri clear cell adenocarcinoma|cervix clear cell adenocarcinoma|uterine cervix clear cell adenocarcinoma|clear cell carcinoma of cervix EFO:1000163|DOID:5303|NCIT:C6344|UMLS:C1332912|ONCOTREE:CECC owl:Class GO:0061178 biolink:NamedThing regulation of insulin secretion involved in cellular response to glucose stimulus Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpte7i6ely_mondo_relaxed.owl regulation of insulin secretion in response to glucose owl:Class MONDO:0016854 biolink:NamedThing 49,XXXYY syndrome 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl XXXYY syndrome|49, XXXYY syndrome GARD:0010922|ICD10:Q98.8|UMLS:CN202197|Orphanet:261534 https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome owl:Class MONDO:0017006 biolink:NamedThing X and Y chromosomal anomaly tmpte7i6ely_mondo_relaxed.owl 2022-04-01 ICD10:Q98.8|Orphanet:263749 Reason: grouping class. Term to consider: none owl:Class HP:0000859 biolink:NamedThing Hyperaldosteronism Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. tmpte7i6ely_mondo_relaxed.owl Increased aldosterone|Mineralocorticoid excess|Elevated plasma aldosterone|Increased aldosterone production SNOMEDCT_US:88213004|MSH:D006929|UMLS:C0020428 HP:0004318|HP:0005975 human_phenotype owl:Class GO:0006705 biolink:NamedThing mineralocorticoid biosynthetic process The chemical reactions and pathways resulting in the formation of mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. tmpte7i6ely_mondo_relaxed.owl mineralocorticoid formation|mineralocorticoid anabolism|mineralocorticoid biosynthesis|mineralocorticoid synthesis owl:Class GO:0120178 biolink:NamedThing steroid hormone biosynthetic process The chemical reactions and pathways resulting in the formation of any steroid hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2605435 biolink:NamedThing Evosea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:554915 biolink:NamedThing Amoebozoa tmpte7i6ely_mondo_relaxed.owl PMID:30257078|PMID:23020233|GC_ID:1 ncbi_taxonomy owl:Class HP:0002693 biolink:NamedThing Abnormality of the skull base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. tmpte7i6ely_mondo_relaxed.owl Abnormality of cranial base|Abnormality of the skull base UMLS:C4025688 human_phenotype owl:Class MONDO:0020210 biolink:NamedThing syndromic hyperopia A hyperopia that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic hyperopia|syndrome associated with hyperopia UMLS:CN227820|Orphanet:98622 owl:Class MONDO:0013168 biolink:NamedThing dilated cardiomyopathy 1DD Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene. tmpte7i6ely_mondo_relaxed.owl CMD1DD|cardiomyopathy, dilated, 1DD|dilated cardiomyopathy type 1DD|cardiomyopathy, dilated, type 1Dd|familial isolated dilated cardiomyopathy caused by mutation in RBM20|RBM20 familial isolated dilated cardiomyopathy ICD10:I42.0|MESH:C567725|OMIM:613172|DOID:0110447|UMLS:C2750995 owl:Class GO:0016070 biolink:NamedThing RNA metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. tmpte7i6ely_mondo_relaxed.owl RNA metabolism owl:Class NCBITaxon:10912 biolink:NamedThing Rotavirus tmpte7i6ely_mondo_relaxed.owl Rotaviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:689832 biolink:NamedThing Sedoreovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008765 biolink:NamedThing Leber congenital amaurosis 2 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis 2|amaurosis congenita of Leber, type 2|Leber congenital amaurosis type 2|LCA2|amaurosis congenita of Leber 2|RPE65 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RPE65|amaurosis congenita of Leber II GARD:0000636|OMIM:204100|UMLS:C1859844|MESH:C536601|DOID:0110016|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2 owl:Class MONDO:0008961 biolink:NamedThing Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 4A|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|Charcot-Marie-Tooth neuropathy, type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A|Charcot-Marie-Tooth neuropathy type 4A|GDAP1 Charcot-Marie-Tooth disease type 4|Charcot Marie Tooth disease type 4A|CMT4A|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive Orphanet:99948|UMLS:C1859198|MESH:C535419|GARD:0001252|OMIM:214400|ICD10:G60.0|DOID:0110185|SCTID:715796006 https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a owl:Class FOODON:00002507 biolink:NamedThing taurine cattle Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006301 biolink:NamedThing metanephric adenoma A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. tmpte7i6ely_mondo_relaxed.owl metanephric adenoma|metanephric adenoma (morphologic abnormality) ICDO:8325/0|EFO:1000373|UMLS:C1266045|DOID:6404|ICDO:8191/0|NCIT:C27253 owl:Class MONDO:0015260 biolink:NamedThing diphyllobothriasis Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). tmpte7i6ely_mondo_relaxed.owl fish tapeworm|Bothriocephalosis|Diphyllobothrium infectious disease|Diphyllobothrium disease or disorder|Diphyllobothrium caused disease or disorder|Diphyllobothrium infection DOID:10075|Orphanet:128|SCTID:187151009|NCIT:C128391|MESH:D004169|ICD10:B70.0|GARD:0000942|MedDRA:10013029|UMLS:C0012561|EFO:0007238|ICD9:123.4 owl:Class MONDO:0004564 biolink:NamedThing thyroid malformation An anatomic abnormality of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl thyroid gland malformation NCIT:C27331|DOID:8433 owl:Class GO:1902105 biolink:NamedThing regulation of leukocyte differentiation Any process that modulates the frequency, rate or extent of leukocyte differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of immune cell differentiation|regulation of leucocyte differentiation owl:Class MONDO:0011227 biolink:NamedThing short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome tmpte7i6ely_mondo_relaxed.owl SAMS|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities|SAMS syndrome Orphanet:397623|OMIM:602471|SCTID:417081007|ICD10:Q87.1|UMLS:C1865361|MESH:C566544 owl:Class MONDO:0021101 biolink:NamedThing appendix L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpte7i6ely_mondo_relaxed.owl appendix L-cell glucagon-like peptide-producing NET|appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix|malignant appendiceal glucagonoma|malignant appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell NET UMLS:C3274138|NCIT:C27445|DOID:8151 owl:Class MONDO:0010321 biolink:NamedThing autism, susceptibility to, X-linked 1 tmpte7i6ely_mondo_relaxed.owl susceptibility to X-linked autism 1|autism, susceptibility to, X-linked type 1|autism, susceptibility to, X-linked 1|AUTSX1 OMIM:300425 owl:Class MONDO:0014925 biolink:NamedThing epilepsy, familial focal, with variable foci 3 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene. tmpte7i6ely_mondo_relaxed.owl NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 3|epilepsy, familial focal, with variable foci 3; FFEVF3|epilepsy, familial focal, with variable foci type 3|epilepsy, familial focal, with variable foci caused by mutation in NPRL3|FFEVF3 UMLS:C4310708|OMIM:617118 owl:Class HGNC:18505 biolink:NamedThing RNF43 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011503 biolink:NamedThing cortisone reductase deficiency 1 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. tmpte7i6ely_mondo_relaxed.owl cortisone reductase deficiency type 1|apparent cortisone reductase deficiency|hexose-6-phosphate dehydrogenase deficiency|cortisone reductase deficiency caused by mutation in H6PD|CORTRD1|H6PD cortisone reductase deficiency|cortisone reductase deficiency 1 OMIM:604931|DOID:0090141|UMLS:C3551716|Orphanet:168588|NCIT:C131849 owl:Class MONDO:0017002 biolink:NamedThing polysomy of X chromosome tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:263723 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class NCBITaxon:43786 biolink:NamedThing Culicomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011021 biolink:NamedThing neuronal intestinal dysplasia, type B tmpte7i6ely_mondo_relaxed.owl neuronal intestinal dysplasia, type B|NID B OMIM:601223|UMLS:C1832589|Orphanet:2978 owl:Class MONDO:0019487 biolink:NamedThing epilepsy with myoclonic absences tmpte7i6ely_mondo_relaxed.owl Orphanet:86911|ICD10:G40.4|SCTID:230422001 owl:Class HGNC:16232 biolink:NamedThing COX4I2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007327 biolink:NamedThing chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase tmpte7i6ely_mondo_relaxed.owl chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C MESH:C566126|OMIM:118830|UMLS:C1861560|DOID:0111419 owl:Class MONDO:0000111 biolink:NamedThing camptodactyly syndrome, Guadalajara tmpte7i6ely_mondo_relaxed.owl Text for OMIM 211910 includes 211920 and 611929 as other types. owl:Class HGNC:9591 biolink:NamedThing PTGDR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013895 biolink:NamedThing Adams-Oliver syndrome 3 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene. tmpte7i6ely_mondo_relaxed.owl AOS3|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome type 3|Adams-Oliver syndrome caused by mutation in RBPJ|Adams-Oliver syndrome 3 UMLS:C3553748|Orphanet:974|OMIM:614814 owl:Class HGNC:1974 biolink:NamedThing CHUK tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:644 biolink:NamedThing Aeromonas hydrophila tmpte7i6ely_mondo_relaxed.owl Aeromonas liquefaciens|Aeromonas dourgesi|Bacterium hydrophilum|Pseudomonas hydrophila|Bacillus hydrophilus fuscus|Proteus hydrophilus|Proteus ichthyosmius|Bacillus hydrophilus PMID:16560691|PMID:932684|PMID:19965992|GC_ID:11|PMID:23485124 NCBITaxon:582309|NCBITaxon:582300|NCBITaxon:582240|NCBITaxon:582322|NCBITaxon:582231|NCBITaxon:329140|NCBITaxon:582312|NCBITaxon:582314|NCBITaxon:346634|NCBITaxon:582315|NCBITaxon:582310|NCBITaxon:582251|NCBITaxon:582297|NCBITaxon:1471788|NCBITaxon:582317|NCBITaxon:582198|NCBITaxon:582286|NCBITaxon:582323|NCBITaxon:582307|NCBITaxon:582289|NCBITaxon:582266|NCBITaxon:582313|NCBITaxon:582282|NCBITaxon:582320|NCBITaxon:582290|NCBITaxon:582304|NCBITaxon:582250|NCBITaxon:582226|NCBITaxon:582302|NCBITaxon:582217|NCBITaxon:1471787|NCBITaxon:582295|NCBITaxon:582215|NCBITaxon:582222|NCBITaxon:582305|NCBITaxon:582316|NCBITaxon:98358|NCBITaxon:582267|NCBITaxon:582254|NCBITaxon:582318|NCBITaxon:582299|NCBITaxon:582214|NCBITaxon:582218|NCBITaxon:582196|NCBITaxon:346633|NCBITaxon:582308|NCBITaxon:582223|NCBITaxon:582324|NCBITaxon:329135|NCBITaxon:582219|NCBITaxon:582291|NCBITaxon:582220|NCBITaxon:582253|NCBITaxon:582303|NCBITaxon:582225|NCBITaxon:582279|NCBITaxon:582319|NCBITaxon:582292|NCBITaxon:582228|NCBITaxon:582229|NCBITaxon:582284|NCBITaxon:582224|NCBITaxon:582237|NCBITaxon:582321|NCBITaxon:582311|NCBITaxon:582221|NCBITaxon:582306|NCBITaxon:582265|NCBITaxon:582287|NCBITaxon:582236|NCBITaxon:582216 ncbi_taxonomy owl:Class NCBITaxon:642 biolink:NamedThing Aeromonas tmpte7i6ely_mondo_relaxed.owl PMID:1380289|PMID:12807216|PMID:16560691|PMID:8934910|PMID:15388703|PMID:17012583|PMID:1380286|GC_ID:11|PMID:8347521|PMID:7520733|PMID:17158971|PMID:19567585|PMID:12067377|PMID:11155981 ncbi_taxonomy owl:Class MONDO:0012368 biolink:NamedThing aminoacylase 1 deficiency Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. tmpte7i6ely_mondo_relaxed.owl ACY1 deficiency|deficiency of the aminoacylase-1 enzyme|neurological conditions associated with aminoacylase 1 deficiency|aminoacylase 1 deficiency|ACY1D|N-acyl-L-amino acid amidohydrolase deficiency OMIM:609924|SCTID:709282004|Orphanet:137754|UMLS:C1835922|ICD10:E72.8|ICD9:270.8|MESH:C538246|EFO:1001981|GARD:0009741 https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency owl:Class MONDO:0017686 biolink:NamedThing inborn aminoacylase deficiency An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity. tmpte7i6ely_mondo_relaxed.owl inborn aminoacylase activity disorder|rare inborn error of aminoacylase activity|aminoacylase deficiency|inborn error of aminoacylase activity Orphanet:308448 owl:Class MONDO:0008645 biolink:NamedThing ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. tmpte7i6ely_mondo_relaxed.owl ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence|ventricular extrasystoles perodactyly Robin sequence|Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence SCTID:719823007|OMIM:192445|GARD:0005472|Orphanet:3201|ICD10:Q87.8|MESH:C537497 owl:Class MONDO:0010353 biolink:NamedThing deafness-intellectual disability, Martin-Probst type syndrome Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl X-linked deafness-intellectual disability syndrome syndrome|Martin-Probst deafness-intellectual disability syndrome|Martin-Probst syndrome|deafness-intellectual disability syndrome, Martin-Probst type|mental retardation, X-linked, syndromic, MARTIN-Probst type|MRXSMP|Martin-Probst deafness-mental retardation syndrome|intellectual disability, X-linked, syndromic, MARTIN-Probst type|intellectual disability, X-linked, syndromic, Martin-Probst type|mental retardation, X-linked, syndromic, Martin-Probst type MESH:C564495|ICD10:Q87.8|SCTID:721087008|DOID:0060830|Orphanet:85321|OMIM:300519 owl:Class NCBITaxon:40119 biolink:NamedThing Parvovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10780 biolink:NamedThing Parvoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016697 biolink:NamedThing low grade ependymoma tmpte7i6ely_mondo_relaxed.owl ICD10:D43.2|UMLS:CN201940|Orphanet:251633 owl:Class HP:0002149 biolink:NamedThing Hyperuricemia An abnormally high level of uric acid in the blood. tmpte7i6ely_mondo_relaxed.owl High blood uric acid level|Hyperuricaemia UMLS:C0740394|SNOMEDCT_US:35885006|MSH:D033461 human_phenotype owl:Class HP:0010932 biolink:NamedThing Abnormal circulating nucleobase concentration An abnormality of a nucleobase metabolic process. tmpte7i6ely_mondo_relaxed.owl Abnormal nucleoside levels UMLS:C4023643|UMLS:C4020762 This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. peter 2011-01-06T10:46:17Z human_phenotype owl:Class MONDO:0005063 biolink:NamedThing medullary breast carcinoma An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. tmpte7i6ely_mondo_relaxed.owl medullary breast carcinoma with lymphoid Stroma|infiltrating medullary carcinoma of the breast|medullary carcinoma of breast|invasive medullary carcinoma of breast|medullary breast carcinoma|medullary breast cancer|invasive medullary breast carcinoma|medullary carcinoma of the breast|breast medullary carcinoma|invasive medullary carcinoma of the breast|infiltrating medullary carcinoma of breast NCIT:C9119|ICDO:8512/3|UMLS:C0860580|EFO:0000580|DOID:5605 owl:Class MONDO:0045036 biolink:NamedThing primary infectious A characteristic of an infectious disease in which the disease affects an immunologically normal host. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012415 biolink:NamedThing Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. tmpte7i6ely_mondo_relaxed.owl Abnormal blood gas level SNOMEDCT_US:312391003|UMLS:C0476337 peter 2013-11-10T04:59:20Z human_phenotype owl:Class MONDO:0011902 biolink:NamedThing Charcot-Marie-Tooth disease type 1F A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. tmpte7i6ely_mondo_relaxed.owl NEFL Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot Marie Tooth disease type 1F|Charcot-Marie-Tooth neuropathy type 1F|CMT1F|CMT 1F|Charcot-Marie-Tooth disease, demyelinating, type 1F|Charcot-Marie-Tooth neuropathy, type 1F OMIM:607734|GARD:0009191|SCTID:719980006|DOID:0110149|ICD10:G60.0|Orphanet:101085|MESH:C537987|UMLS:C1843164 https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f owl:Class MONDO:0013968 biolink:NamedThing PGM1-CDG tmpte7i6ely_mondo_relaxed.owl phosphoglucomutase-1 deficiency|congenital disorder of glycosylation, type It|GSD 14|glycogen storage disease due to phosphoglucomutase deficiency|GSDXIV|congenital disorder of glycosylation type 1t|CDG-It|CDG1T|CDG it|type 14 glycogenosis|PGM1-CDG|CDG syndrome type It|phosphoglucomutase 1 deficiency|glycogen storage disease 14|congenital disorder of glycosylation type It|GSD type 14|Pgm1 deficiency|phosphoglucomutase deficiency type 1 UMLS:C2752015|ICD10:E77.8|OMIM:614921|MESH:C567859|DOID:0080570|Orphanet:319646|GARD:0004329 owl:Class MONDO:0010368 biolink:NamedThing immunodeficiency without anhidrotic ectodermal dysplasia tmpte7i6ely_mondo_relaxed.owl immunodeficiency, Pure|immunodeficiency, isolated|immunodeficiency without anhidrotic ectodermal dysplasia UMLS:C1845117|GARD:0009917|MESH:C536289|OMIM:300584 https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia owl:Class MONDO:0018111 biolink:NamedThing idiopathic severe pneumococcemia tmpte7i6ely_mondo_relaxed.owl Orphanet:35065|ICD10:A40.3 owl:Class GO:0071482 biolink:NamedThing cellular response to light stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100413 biolink:NamedThing acute myeloid leukemia, biallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.) tmpte7i6ely_mondo_relaxed.owl AML, CEBPA Biallelic Gene Mutation|AML, biallelic CEBPA gene mutation|AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation|AML, C/EBP-Alpha Biallelic Gene Mutation|AML, CEBPA Biallelic Mutation|AML, biCEBPA|AML, C/EBPalpha Biallelic Gene Mutation|AML, CEBP Biallelic Gene Mutation NCIT:C157569 owl:Class UBERON:0010341 biolink:NamedThing 1st arch mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002157 biolink:NamedThing Azotemia An increased concentration of nitrogen compounds in the blood. tmpte7i6ely_mondo_relaxed.owl Azotaemia MSH:D053099|SNOMEDCT_US:445009001|UMLS:C0242528 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. human_phenotype owl:Class HP:0004364 biolink:NamedThing Abnormal circulating nitrogen compound concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025336 Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. peter 2008-03-17T04:51:00Z human_phenotype owl:Class MONDO:0002168 biolink:NamedThing rectum sarcoma A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. tmpte7i6ely_mondo_relaxed.owl rectal sarcoma|sarcoma of the rectum|sarcoma of rectum|rectum sarcoma NCIT:C5548|DOID:1995|UMLS:C1335688 owl:Class MONDO:0013321 biolink:NamedThing forsythe-wakeling syndrome tmpte7i6ely_mondo_relaxed.owl FWS|microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia|FORSYTHE-WAKELING syndrome UMLS:C3150859|OMIM:613606 owl:Class HGNC:9689 biolink:NamedThing PTS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011730 biolink:NamedThing fumaric aciduria Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. tmpte7i6ely_mondo_relaxed.owl fumarase deficiency|FMRD|fumarate hydratase deficiency|fumaric aciduria Orphanet:24|MESH:C538191|OMIM:606812|ICD10:E88.8|UMLS:C2936826|DOID:0111261|SCTID:237983002|GARD:0006476|ICD9:282.3 owl:Class NCBITaxon:10357 biolink:NamedThing Betaherpesvirinae tmpte7i6ely_mondo_relaxed.owl Betaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class GO:0002759 biolink:NamedThing regulation of antimicrobial humoral response Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017139 biolink:NamedThing oromandibular-limb hypogenesis syndrome Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). tmpte7i6ely_mondo_relaxed.owl oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome Orphanet:2749|GARD:0004116|UMLS:CN202556|ICD10:Q87.5 owl:Class MONDO:0015498 biolink:NamedThing oromandibular-limb anomalies syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN199634|Orphanet:156215 owl:Class HGNC:3668 biolink:NamedThing FGF12 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001804 biolink:NamedThing negative regulation of type III hypersensitivity Any process that stops, prevents, or reduces the rate of type III hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl inhibition of type III hypersensitivity|down regulation of type III hypersensitivity|downregulation of type III hypersensitivity|down-regulation of type III hypersensitivity owl:Class MONDO:0006187 biolink:NamedThing duodenal villous adenoma A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl duodenum villous adenoma|villous adenoma of duodenum|villous adenoma, duodenum|villous adenoma of the duodenum|duodenal villous adenoma|duodenum adenoma NCIT:C5338|DOID:0050927|EFO:1000225|UMLS:C1333322 owl:Class UBERON:0010257 biolink:NamedThing 6th arch mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010031 biolink:NamedThing 6th arch mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013995 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 3 tmpte7i6ely_mondo_relaxed.owl cholestasis, intrahepatic, of pregnancy type 3|ICP3|cholestasis, intrahepatic, of pregnancy 3 UMLS:C3554241|EFO:0009150|Orphanet:69665|DOID:0070229|OMIM:614972 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0005708 biolink:NamedThing Colorado tick fever A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. tmpte7i6ely_mondo_relaxed.owl American mountain fever|Colorado tick fever virus infectious disease|Colorado tick encephalitis|Mountain fever|Colorado tick fever virus disease or disorder|Tick fever, American mountain|Colorado tick fever virus caused disease or disorder|Colorado tick-borne disease|Mountain tick fever ICD9:066.1|SCTID:6452009|MedDRA:10010022|EFO:0007213|MESH:D003121|DOID:4885|UMLS:C0009400|ICD10:A93.2|Orphanet:83595 Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature owl:Class NCBITaxon:34487 biolink:NamedThing Conidiobolus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012386 biolink:NamedThing trichoscyphodysplasia tmpte7i6ely_mondo_relaxed.owl Trichoscyphodysplasia|cupped metaphyses and cone-Shaped epiphyses with alopecia|metaphyseal chondrodysplasia with ectodermal dysplasia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia OMIM:609990|MESH:C536557|UMLS:C1864943|GARD:0009861 https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia owl:Class MONDO:0018977 biolink:NamedThing polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. tmpte7i6ely_mondo_relaxed.owl neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein|anti-MAG neuropathy Orphanet:639|ICD10:G61.8|UMLS:C1736154 owl:Class MONDO:0007161 biolink:NamedThing spermatogenic failure 2 tmpte7i6ely_mondo_relaxed.owl Aspermiogenesis Factor|spermatogenic failure 2|SPGF2 DOID:0070164|OMIM:108420 owl:Class MONDO:0018393 biolink:NamedThing male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. tmpte7i6ely_mondo_relaxed.owl OMIM:615081|OMIM:616950|OMIM:305700|Orphanet:399805|UMLS:CN225947|OMIM:309120|OMIM:615841|OMIM:258150|OMIM:270960|ICD10:N46|OMIM:613957|OMIM:615413|OMIM:615842|OMIM:108420 owl:Class GO:0002718 biolink:NamedThing regulation of cytokine production involved in immune response Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpte7i6ely_mondo_relaxed.owl regulation of cytokine production during immune response|regulation of cytokine secretion involved in immune response|regulation of cytokine biosynthetic process involved in immune response owl:Class MONDO:0016816 biolink:NamedThing Leigh syndrome with nephrotic syndrome tmpte7i6ely_mondo_relaxed.owl infantile subacute necrotizing encephalopathy with nephrotic syndrome|Leigh disease with nephrotic syndrome UMLS:CN202084|OMIM:614652|OMIM:607426|ICD10:G31.8|Orphanet:255249 owl:Class MONDO:0019374 biolink:NamedThing CAMOS syndrome CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl SCAR5|cerebellar ataxia with mental retardation optic atrophy and skin abnormalities|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities|CAMOS|spinocerebellar ataxia autosomal recessive 5|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome UMLS:C1847114|SCTID:726031001|GARD:0009977|Orphanet:83472|ICD10:G11.1|UMLS:C4511633 owl:Class MONDO:0007964 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 2 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) tmpte7i6ely_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 2|B-K Mole syndrome|CMM2|melanoma, cutaneous malignant, susceptibility to, type 2|familial dysplastic nevi|Atypical Mole syndrome|susceptibility to cutaneous malignant melanoma 2|dysplastic nevus syndrome EFO:0004199|DOID:10041|NCIT:C7584|OMIM:155601|Orphanet:618|MESH:D004416 owl:Class GO:0045927 biolink:NamedThing positive regulation of growth Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpte7i6ely_mondo_relaxed.owl stimulation of growth|up-regulation of growth|upregulation of growth|up regulation of growth|activation of growth owl:Class HGNC:25786 biolink:NamedThing REEP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030058 biolink:NamedThing hearing loss, autosomal dominant 77 tmpte7i6ely_mondo_relaxed.owl DFNA77|deafness, autosomal dominant 77 OMIM:618915 owl:Class HGNC:9535 biolink:NamedThing PSMA6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051984 biolink:NamedThing positive regulation of chromosome segregation Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpte7i6ely_mondo_relaxed.owl up regulation of chromosome segregation|upregulation of chromosome segregation|stimulation of chromosome segregation|activation of chromosome segregation|up-regulation of chromosome segregation owl:Class HGNC:6764 biolink:NamedThing MAD2L2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10561 biolink:NamedThing ATXN8OS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019642 biolink:NamedThing vitamin D-dependent rickets, type 2 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. tmpte7i6ely_mondo_relaxed.owl VDDR2|vitamin D-dependent rickets type II|vitamin D-resistant rickets type II|hereditary vitamin D-resistant rickets|vitamin D dependent rickets 2|HVDRR|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|vitamin D-dependent rickets, type 2|vitamin D receptor deficiency|VDRR II|VDDR II|hypocalcemic vitamin D-resistant rickets SCTID:72831007|NCIT:C131077|ICD10:E83.3|Orphanet:93160|OMIM:600785|OMIM:277440 Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A owl:Class HP:0012252 biolink:NamedThing Abnormal respiratory system morphology A structural anomaly of the respiratory system. tmpte7i6ely_mondo_relaxed.owl Fyler:4235|UMLS:C4022992 peter 2013-04-07T09:11:09Z human_phenotype owl:Class MONDO:0011056 biolink:NamedThing Wilms tumor 4 tmpte7i6ely_mondo_relaxed.owl Wilms tumor 4|WT4|familial Wilms tumor 1|Wilms tumor type 4 MESH:C563336|UMLS:C1832426|OMIM:601363|Orphanet:654 owl:Class MONDO:0003604 biolink:NamedThing functioning pituitary gland neoplasm A hormone producing pituitary gland tumor, associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl secretory pituitary tumor|hormone producing pituitary neoplasm|functioning pituitary tumor|pituitary tumors, hormone producing|functioning pituitary neoplasm|somatotropinoma|functioning endocrine neoplasm of pituitary gland|pituitary gland functioning endocrine neoplasm|pituitary neoplasms, hormone producing|functioning pituitary gland neoplasm|hormone producing pituitary cancer UMLS:C3163678|DOID:5716|UMLS:C0278864|NCIT:C7911|SCTID:448148000|NCIT:C7047|ICD9:237.0|UMLS:C0851693 owl:Class MONDO:0021120 biolink:NamedThing functioning endocrine neoplasm A hormone producing endocrine neoplasm, associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl functioning endocrine neoplasm|functioning tumor UMLS:C2986655|ICDO:8158/1|NCIT:C94759 owl:Class MONDO:0015034 biolink:NamedThing lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|Orphanet:100011|UMLS:CN228900 owl:Class GO:1902495 biolink:NamedThing transmembrane transporter complex A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020857 biolink:NamedThing ovarian dysgenesis 7 tmpte7i6ely_mondo_relaxed.owl ODG7|OVARIAN DYSGENESIS 7 OMIM:618117|DOID:0080499 owl:Class MONDO:0003364 biolink:NamedThing gallbladder leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of the gallbladder|leiomyosarcoma of gall bladder|leiomyosarcoma of gallbladder|gall bladder leiomyosarcoma|gallbladder leiomyosarcoma DOID:5275|NCIT:C5841|UMLS:C1333746 owl:Class MONDO:0009823 biolink:NamedThing primary hyperoxaluria type 1 A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. tmpte7i6ely_mondo_relaxed.owl AGXT primary hyperoxaluria|serine pyruvate aminotransferase deficiency|PH1|hyperoxaluria, primary, type I|peroxisomal alanine:glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|alanine-glyoxylate aminotransferase deficiency|primary hyperoxaluria type I|HP1|hyperoxaluria, primary, type 1|peroxisomal alanine glyoxylate aminotransferase deficiency|primary hyperoxaluria type 1|glycolic aciduria|primary hyperoxaluria caused by mutation in AGXT|hepatic AGT deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|Oxalosis 1 Orphanet:416|OMIM:259900|SCTID:65520001|DOID:0111670|MESH:C536414|NCIT:C123212|Orphanet:93598|ICD10:E74.8|ICD9:271.8|UMLS:C0268164|GARD:0002835 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 owl:Class OBO:CHR_9606-chrXq26 biolink:NamedThing Xq26 (Human) tmpte7i6ely_mondo_relaxed.owl 138900000 129500000 hg38 owl:Class MONDO:0000234 biolink:NamedThing Rickettsia parkeri spotted fever A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash. tmpte7i6ely_mondo_relaxed.owl maculatum infection DOID:0050051 owl:Class GO:0034103 biolink:NamedThing regulation of tissue remodeling Any process that modulates the frequency, rate, or extent of tissue remodeling. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023197 biolink:NamedThing frontonasal dysplasia Klippel feil syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002394 https://rarediseases.info.nih.gov/diseases/2394/frontonasal-dysplasia-klippel-feil-syndrome owl:Class MONDO:0044037 biolink:NamedThing livedo reticularis A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. tmpte7i6ely_mondo_relaxed.owl livedo racemosa|livedo reticularis SCTID:238772004|MESH:D054068|UMLS:C0085642 owl:Class HP:0001733 biolink:NamedThing Pancreatitis The presence of inflammation in the pancreas. tmpte7i6ely_mondo_relaxed.owl Pancreatic inflammation SNOMEDCT_US:75694006|MSH:D010195|UMLS:C0030305 human_phenotype owl:Class HP:0012091 biolink:NamedThing Abnormality of pancreas physiology An anomaly of the function of the pancreas. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023048 peter 2012-08-20T09:17:10Z human_phenotype owl:Class MONDO:0017385 biolink:NamedThing malignant migrating partial seizures of infancy A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. tmpte7i6ely_mondo_relaxed.owl MMPEI|migrating partial epilepsy of infancy|migrating partial seizures of infancy|MPEI|malignant migrating Partial seizures in infancy|migrating Partial seizures in infancy|MPSI|MMPSI|malignant migrating partial epilepsy of infancy UMLS:CN203114|GARD:0012919|OMIM:615338|NCIT:C125387|OMIM:614959|OMIM:616645|OMIM:613722|UMLS:CN240507|Orphanet:293181 owl:Class MONDO:0013370 biolink:NamedThing long QT syndrome 6 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene. tmpte7i6ely_mondo_relaxed.owl long QT syndrome 3/6, digenic|long QT syndrome type 6|KCNE2 long QT syndrome|long QT syndrome caused by mutation in KCNE2|LQT6|long QT syndrome 6|long QT syndrome 6, acquired, susceptibility to Orphanet:101016|DOID:0110648|HGNC:6242|OMIM:613693|GARD:0010434|MESH:C566333|UMLS:C3150953|Orphanet:768|ICD10:I45.8 https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 owl:Class CL:1001433 biolink:NamedThing epithelial cell of exocrine pancreas An epithelial cell of the exocrine pancreas. tmpte7i6ely_mondo_relaxed.owl exocrine pancreas cell FMA:70986 cell owl:Class NCBITaxon:42461 biolink:NamedThing Opisthokonta incertae sedis tmpte7i6ely_mondo_relaxed.owl Fungi/Metazoa incertae sedis GC_ID:1 ncbi_taxonomy owl:Class HP:0100000 biolink:NamedThing Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. tmpte7i6ely_mondo_relaxed.owl Early onset of sexual maturation UMLS:C4022392 doelkens 2010-05-04T10:35:02Z human_phenotype owl:Class HGNC:18971 biolink:NamedThing AP1S3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031690 biolink:NamedThing Opportunistic infection An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. tmpte7i6ely_mondo_relaxed.owl 2017-12-17 22:11:49+00:00 Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. peter human_phenotype owl:Class MONDO:0010256 biolink:NamedThing intellectual disability, X-linked 21 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 34|MRX21|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|intellectual disability, X-linked 21|intellectual disability, X-linked type 21|mental retardation, X-linked 34|IL1RAPL1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 21|mental retardation, X-linked 21 OMIM:300143 owl:Class CHEBI:35190 biolink:NamedThing diterpene A C20 terpene. tmpte7i6ely_mondo_relaxed.owl diterpenos|Diterpen|diterpenes|diterpeno owl:Class MONDO:0017499 biolink:NamedThing congenital absence of both forearm and hand, bilateral Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. tmpte7i6ely_mondo_relaxed.owl radio-ulnar terminal transverse meromelia, bilateral Orphanet:295095|ICD10:Q71.23|ICD10:Q71.2 owl:Class MONDO:0017443 biolink:NamedThing congenital absence of both forearm and hand Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end. tmpte7i6ely_mondo_relaxed.owl radio-ulnar terminal transverse meromelia ICD10:Q71.2|Orphanet:294979 owl:Class HGNC:10702 biolink:NamedThing SEC23B tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35134 biolink:NamedThing metalloprotein tmpte7i6ely_mondo_relaxed.owl metalloprotein|metalloproteine|metalloproteins owl:Class UBERON:0010375 biolink:NamedThing pancreas dorsal primordium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904252 biolink:NamedThing negative regulation of bile acid metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process. tmpte7i6ely_mondo_relaxed.owl down regulation of bile acid metabolic process|inhibition of bile acid metabolic process|down-regulation of bile acid metabolic process|down-regulation of bile acid metabolism|down regulation of bile acid metabolism|inhibition of bile acid metabolism|downregulation of bile acid metabolic process|negative regulation of bile acid metabolism|downregulation of bile acid metabolism owl:Class MONDO:0006369 biolink:NamedThing pineal parenchymal tumor of intermediate differentiation A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)|pineal parenchymal tumors of intermediate differentiation|pineal parenchymal tumour of intermediate differentiation|pineal parenchymal tumor of intermediate differentiation|PPTID NCIT:C6967|GARD:0010644|UMLS:C1367859|SCTID:715904005|ONCOTREE:PPTID|EFO:1000474|DOID:5030 owl:Class CL:0019031 biolink:NamedThing intestine goblet cell Goblet cells reside throughout the length of the small and large intestine and are responsible for the production and maintenance of the protective mucus blanket by synthesizing and secreting high-molecular-weight glycoproteins known as mucins. Human intestinal goblet cells secrete the MUC2 mucin, as well as a number of typical mucus components: CLCA1, FCGBP, AGR2, ZG16, and TFF3. tmpte7i6ely_mondo_relaxed.owl intestinal goblet cell 2020-10-14 14:59:07+00:00 owl:Class MONDO:0100343 biolink:NamedThing antenatal Bartter syndrome A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome. tmpte7i6ely_mondo_relaxed.owl hyperprostaglandin E syndrome|Bartter syndrome, furosemide-amiloride type|Bartter syndrome, furosemide type Orphanet:93604 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0001018 biolink:NamedThing axon tract tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019953 biolink:NamedThing sexual reproduction A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000003 biolink:NamedThing reproduction The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. tmpte7i6ely_mondo_relaxed.owl reproductive physiological process owl:Class MONDO:0004333 biolink:NamedThing pancreatic ACTH-producing neuroendocrine tumor A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl pancreatic ACTH-producing neuroendocrine tumor|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH producing neuroendocrine tumor|pancreatic ACTH hormone producing tumor|pancreatic ACTH producing NET|pancreatic ACTH producing tumor NCIT:C27466|UMLS:C1335300|ICDO:8158/1|DOID:7697 owl:Class MONDO:0009203 biolink:NamedThing focal facial dermal dysplasia type III Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. tmpte7i6ely_mondo_relaxed.owl focal Facial dermal dysplasia, type II|focal facial dermal dysplasia type 2|focal facial dermal dysplasia 3, Setleis type|focal facial dermal dysplasia type III|facial ectodermal dysplasia|FFDD type 2|FFDD3|focal Facial dermal dysplasia, type II, formerly|FFDD type III|bitemporal forceps Marks syndrome|bitemporal forceps marks syndrome|Setleis syndrome SCTID:403771007|ICD10:Q82.8|GARD:0000121|Orphanet:398166|Orphanet:1807|OMIM:227260 owl:Class MONDO:0018363 biolink:NamedThing focal facial dermal dysplasia Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. tmpte7i6ely_mondo_relaxed.owl FFDD OMIM:227260|OMIM:136500|OMIM:614973|Orphanet:398166|OMIM:614974|ICD10:Q82.8|OMIMPS:136500 owl:Class MONDO:0004244 biolink:NamedThing proximal-type epithelioid sarcoma An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma. tmpte7i6ely_mondo_relaxed.owl proximal-type epithelioid sarcoma|central epithelioid sarcoma|PTES NCIT:C27472|DOID:7492|ONCOTREE:PTES|UMLS:C1335563 owl:Class GO:0002829 biolink:NamedThing negative regulation of type 2 immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response. tmpte7i6ely_mondo_relaxed.owl inhibition of type 2 immune response|downregulation of type 2 immune response|down-regulation of type 2 immune response|negative regulation of Th2 immune response|negative regulation of T-helper 2 type immune response|down regulation of type 2 immune response owl:Class MONDO:0045032 biolink:NamedThing congenital secretory diarrhea tmpte7i6ely_mondo_relaxed.owl congenital secretory diarrhea ICD9:579.8|SCTID:25898005|UMLS:C0267661 owl:Class MONDO:0010165 biolink:NamedThing ulna hypoplasia-intellectual disability syndrome Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. tmpte7i6ely_mondo_relaxed.owl bilateral ulnar hypoplasia and mental retardation|ulna hypoplasia with mental retardation|ulna hypoplasia with intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|bilateral ulnar hypoplasia and intellectual disability|mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation|ulnar hypoplasia with mental retardation|ulnar hypoplasia with intellectual disability ICD10:Q87.2|GARD:0005398|UMLS:C1848650|MESH:C564757|Orphanet:2249|UMLS:C2931370|OMIM:276821 owl:Class MONDO:0004845 biolink:NamedThing aphthous stomatitis A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. tmpte7i6ely_mondo_relaxed.owl oral aphthae|aphtha|canker sore|aphthous ulceration|oral ulcer|oral aphthous ulcer MESH:D013281|SCTID:427617000|ICD9:528.2|NCIT:C62546|GARD:0005834|DOID:9663 https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis owl:Class MONDO:0005509 biolink:NamedThing histiocytoma A mesenchymal tumor composed of fibroblastic and histiocytic cells. tmpte7i6ely_mondo_relaxed.owl histiocytoma SCTID_2010_1_31:302843004|SCTID_2010_1_31:72079004|SCTID_2010_1_31:189773000|UMLS:C1509147|ICDO:8831/0|EFO:0005561|OMIM:612160|MESH:D051642|SCTID_2010_1_31:154614002|NCIT:C35765|DOID:4231|SCTID_2010_1_31:128741006 owl:Class MONDO:0016604 biolink:NamedThing dysraphism-cleft lip/palate-limb reduction defects syndrome tmpte7i6ely_mondo_relaxed.owl dysraphism, cleft lip/palate, limb reduction defects|Medeira-Dennis-Donnai syndrome UMLS:CN201798|ICD10:Q00.0|Orphanet:2476|GARD:0003438 owl:Class MONDO:0017727 biolink:NamedThing fixed subaortic stenosis Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form. tmpte7i6ely_mondo_relaxed.owl Orphanet:3092|ICD10:Q24.4|OMIM:271950 owl:Class UBERON:0005275 biolink:NamedThing dorsal skin of digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018105 biolink:NamedThing Wolfram syndrome Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). tmpte7i6ely_mondo_relaxed.owl DIDMOAD syndrome|DIDMOAD|WFS|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|Wolfram syndrome|diabetes mellitus and insipidus with optic atrophy and deafness NCIT:C35133|DOID:10632|OMIM:222300|Orphanet:3463|OMIM:604928|UMLS:C0043207|GARD:0007898|ICD10:E13.8|ICD9:250.80|OMIM:598500|SCTID:70694009|UMLS:CN184630|MESH:D014929 owl:Class GO:1901999 biolink:NamedThing homogentisate metabolic process The chemical reactions and pathways involving homogentisate. tmpte7i6ely_mondo_relaxed.owl homogentisate metabolism owl:Class GO:0042537 biolink:NamedThing benzene-containing compound metabolic process The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation, or any of its derivatives. tmpte7i6ely_mondo_relaxed.owl benzene and derivative metabolism|benzene and derivative metabolic process|benzene-containing compound metabolism owl:Class MONDO:0004377 biolink:NamedThing pancreatic non-functioning delta cell tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell neoplasm|non-functional pancreatic Delta cell NET|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functioning pancreatic Delta cell tumor DOID:7840|NCIT:C28333|UMLS:C1335311 owl:Class MONDO:0000303 biolink:NamedThing conidiobolomycosis tmpte7i6ely_mondo_relaxed.owl Conidiobolus infectious disease|rhinoentomophthoromycosis|infection by Conidiobolus UMLS:C0276712|SCTID:240783007|ICD9:111.8|DOID:0050279 owl:Class UBERON:0001493 biolink:NamedThing axillary nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011995 biolink:NamedThing cataract - congenital heart disease - neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. tmpte7i6ely_mondo_relaxed.owl craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation Orphanet:314993|MESH:C564271|UMLS:C1842363|OMIM:608227 owl:Class CHEBI:84735 biolink:NamedThing algal metabolite Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. tmpte7i6ely_mondo_relaxed.owl algal metabolites owl:Class MONDO:0013789 biolink:NamedThing DDOST-CDG DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type 1r|congenital disorder of glycosylation, type Ir|CDG1R|DDOST-CDG (CDG-Ir)|DDOST-CDG|congenital disorder of glycosylation type Ir|CDG-Ir|carbohydrate deficient glycoprotein syndrome type|CDG syndrome type Ir|carbohydrate deficient glycoprotein syndrome type Ir UMLS:C3281084|DOID:0080569|SCTID:733083006|Orphanet:300536|GARD:0012398|OMIM:614507|ICD10:E77.8 owl:Class NCIT:C13018 biolink:NamedThing Organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024472 biolink:NamedThing boutonneuse fever An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. tmpte7i6ely_mondo_relaxed.owl tick typhus due to rickettsia conorii|South African tick-bite fever|Mediterranean tick fever|boutonneuse fever|Kenyan tick typhus|Kenya fever|marseilles fever|Mediterranean spotted fever|Kenya tick typhus|boutonneuse disease|Rickettsia conorii spotted fever|Conor and Bruch's disease|African tick typhus|fievre boutonneuse MESH:D001907|Orphanet:83313|ICD9:082.1|DOID:14095|EFO:0007179|Orphanet:101334|SCTID:186774005|UMLS:C0006060|ICD10:A77.1|MedDRA:10006045 owl:Class GO:0098815 biolink:NamedThing modulation of excitatory postsynaptic potential Any process that modulates the frequency, rate or extent of excitatory postsynaptic potential (EPSP). EPSP is a process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010701 biolink:NamedThing Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. tmpte7i6ely_mondo_relaxed.owl Abnormal serum immunoglobulin levels|Immunoglobulin abnormality|Abnormal serum level of immunoglobulin|Abnormal serum immunoglobulin concentration|Abnormal immunoglobulin concentration UMLS:C1855755 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) peter 2010-03-22T08:17:49Z HP:0100032 human_phenotype owl:Class MONDO:0030332 biolink:NamedThing ciliary dyskinesia, primary, 46 tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 46|CILD46 OMIM:619436 owl:Class MONDO:0016652 biolink:NamedThing 2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. tmpte7i6ely_mondo_relaxed.owl monosomy 2q31.1|Del(2)(q31.1) Orphanet:251014|ICD10:Q93.5|UMLS:C4274647|UMLS:CN201880|SCTID:716387004 owl:Class CHEBI:48360 biolink:NamedThing amphiprotic solvent Self-ionizing solvent possessing both characteristics of Bronsted acids and bases. tmpte7i6ely_mondo_relaxed.owl amphiprotic solvent owl:Class GO:1903578 biolink:NamedThing regulation of ATP metabolic process Any process that modulates the frequency, rate or extent of ATP metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of ATP metabolism owl:Class ECTO:0000515 biolink:NamedThing exposure to herbicide An exposure to herbicide. tmpte7i6ely_mondo_relaxed.owl exposure to herbicide owl:Class ECTO:0000530 biolink:NamedThing exposure to pesticide An exposure to pesticide. tmpte7i6ely_mondo_relaxed.owl exposure to pesticide owl:Class HGNC:3531 biolink:NamedThing F13A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:30501 biolink:NamedThing beryllium atom Alkaline earth metal atom with atomic number 4. tmpte7i6ely_mondo_relaxed.owl berilio|Beryllium|Be|beryllium|4Be owl:Class MONDO:0007334 biolink:NamedThing autosomal dominant popliteal pterygium syndrome Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. tmpte7i6ely_mondo_relaxed.owl popliteal pterygium syndrome, autosomal dominant|faciogenitopopliteal syndrome|facio-genito-popliteal syndrome|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies|popliteal pterygium syndrome|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies|PPS|popliteal web syndrome OMIM:119500|SCTID:718222000|ICD10:Q87.2|UMLS:CN199177|GARD:0003242|UMLS:C0265259|Orphanet:1300 Editor note: check logical definition owl:Class MONDO:0017435 biolink:NamedThing popliteal pterygium syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. tmpte7i6ely_mondo_relaxed.owl facio-genito-popliteal syndrome|PPS DOID:0060055|ICD9:756.89|UMLS:C0265259|OMIM:263650|Orphanet:1300|Orphanet:294963|NCIT:C118786|MESH:C562509|OMIM:119500|SCTID:66783006 Editor notes: DO and ordo classifies as AD, however there is an AR subclass (Bartsocas-Papas) owl:Class GO:0002275 biolink:NamedThing myeloid cell activation involved in immune response A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl myeloid cell activation during immune response owl:Class GO:0002279 biolink:NamedThing mast cell activation involved in immune response The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl mast cell activation during immune response owl:Class MONDO:0006477 biolink:NamedThing undifferentiated ovarian carcinoma An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl anaplastic carcinoma of ovary|ovarian undifferentiated carcinoma|undifferentiated ovarian carcinoma|anaplastic ovarian carcinoma|undifferentiated carcinoma of ovary|undifferentiated carcinoma of the ovary|anaplastic carcinoma of the ovary|undifferentiated ovarian cancer|ovary undifferentiated carcinoma UMLS:C0346167|EFO:1000605|SCTID:254856004|NCIT:C4509 owl:Class ENVO:01001085 biolink:NamedThing atmospheric aerosol formation An aerosol formation process which occurs in an atmosphere. tmpte7i6ely_mondo_relaxed.owl atmospheric aerosol formation owl:Class MONDO:0054725 biolink:NamedThing spermatogenic failure 21 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 21|SPGF21 OMIM:617644|DOID:0070163|UMLS:C4539991 owl:Class NCBITaxon:241475 biolink:NamedThing Dioctophymatoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004888 biolink:NamedThing partial circumpapillary choroid dystrophy tmpte7i6ely_mondo_relaxed.owl DOID:9811|ICD9:363.51|UMLS:C0154895|SCTID:193466003 owl:Class MONDO:0004883 biolink:NamedThing hereditary choroidal atrophy tmpte7i6ely_mondo_relaxed.owl ICD9:363.5|ICD9:363.50|ICD10:H31.2|SCTID:74469006|DOID:9794|ICD10:H31.20|UMLS:C0154893 owl:Class MONDO:0015346 biolink:NamedThing Jeavons syndrome Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. tmpte7i6ely_mondo_relaxed.owl eyelid myoclonia with and without absences|epilepsy with eyelid myoclonias|EMEA UMLS:CN199399|ICD10:G40.3|UMLS:C4274731|Orphanet:139431|SCTID:716278005 owl:Class MONDO:0000996 biolink:NamedThing prostate lymphoma A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland. tmpte7i6ely_mondo_relaxed.owl lymphoma of the prostate|lymphoma of prostate gland|prostate lymphoma|prostate gland lymphoma|primary prostate lymphoma|lymphoma of prostate UMLS:C1335512|DOID:10290|NCIT:C5533 owl:Class GO:0005638 biolink:NamedThing lamin filament Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C. tmpte7i6ely_mondo_relaxed.owl type V intermediate filament owl:Class UBERON:0015751 biolink:NamedThing inferior tarsal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012873 biolink:NamedThing Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. tmpte7i6ely_mondo_relaxed.owl EDSSPD3|EDS, spondylocheirodysplastic type|Ehlers-Danlos syndrome, spondylodysplastic type, 3|SCD-EDS|spondylocheirodysplasia, Ehlers-Danlos syndrome-like OMIM:612350|UMLS:C2676510|Orphanet:157965|MESH:C567340|ICD10:Q79.6 owl:Class MONDO:0023007 biolink:NamedThing Drachtman Weinblatt Sitarz syndrome A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus. tmpte7i6ely_mondo_relaxed.owl Drachtman Weinblatt Sitarz syndrome|marrow hypoplasia associated with congenital neurologic anomalies MESH:C535603|UMLS:C2930947|GARD:0001913 https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome owl:Class MONDO:0005392 biolink:NamedThing scoliosis A congenital or acquired spinal deformity characterized by lateral curvature of the spine. tmpte7i6ely_mondo_relaxed.owl ICD10:M41.9|ICD10:M41|DOID:0060249|MESH:D012600|ICD9:737.43|SCTID:298382003|HP:0002650|NCIT:C78603|EFO:0004273 owl:Class MONDO:0010473 biolink:NamedThing X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic type 32|MRXS32|intellectual disability, X-linked, syndromic 32|mental retardation, X-linked, syndromic type 32|mental retardation, X-linked, syndromic 32 DOID:0060828|Orphanet:324410|UMLS:C3550913|OMIM:300886 owl:Class MONDO:0021175 biolink:NamedThing herpetic vulvovaginitis Infection of the vulva and the vagina caused by herpes simplex virus. tmpte7i6ely_mondo_relaxed.owl herpetic vulvovaginitis|Herpetic Vulvovaginitis|Herpetic vulvovaginitis NCIT:C34697|SCTID:27420004|ICD9:054.11|UMLS:C0019386 owl:Class UBERON:0009614 biolink:NamedThing hindbrain neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009106 biolink:NamedThing diastematomyelia A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. tmpte7i6ely_mondo_relaxed.owl Pseudodiplomyelia|split cord malformation|diastematomyelia|SCM type 1|split spinal cord malformation|SSCM|diplomyelia|split cord malformation type 1|Dimyelia GARD:0001851|MedDRA:10012750|ICD10:Q06.2|Orphanet:1671|NCIT:C98913|OMIM:222500|SCTID:49351009|UMLS:C0011999|ICD9:742.51 owl:Class MONDO:0100073 biolink:NamedThing methicillin-resistant staphylococcus aureus infectious disease Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins. tmpte7i6ely_mondo_relaxed.owl MRSA http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019092 biolink:NamedThing infantile apnea Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. tmpte7i6ely_mondo_relaxed.owl apnea of infancy UMLS:CN205590|SCTID:724229002|GARD:0006779|UMLS:C0745261|Orphanet:70590 owl:Class MONDO:0014766 biolink:NamedThing leukodystrophy and acquired microcephaly with or without dystonia; tmpte7i6ely_mondo_relaxed.owl LDAMD|leukodystrophy and acquired microcephaly with or without dystonia UMLS:C4225213|OMIM:616763 owl:Class MONDO:0003923 biolink:NamedThing ethmoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpte7i6ely_mondo_relaxed.owl Schneiderian papilloma of ethmoid sinus|ethmoid sinus Schneiderian papilloma|Schneiderian papilloma of the ethmoid sinus NCIT:C6836|UMLS:C1333476|DOID:6559 owl:Class GO:2001023 biolink:NamedThing regulation of response to drug Any process that modulates the frequency, rate or extent of response to drug. tmpte7i6ely_mondo_relaxed.owl regulation of drug susceptibility/resistance|regulation of drug resistance owl:Class MONDO:0032803 biolink:NamedThing immunodeficiency 64 tmpte7i6ely_mondo_relaxed.owl IMD64|IMMUNODEFICIENCY 64 OMIM:618534 owl:Class NCBITaxon:29930 biolink:NamedThing Ixodes pacificus tmpte7i6ely_mondo_relaxed.owl California black legged tick|western blacklegged tick GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009147 biolink:NamedThing ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|ectodermal dysplasia, hypohidrotic|ECTD10B|ectodermal dysplasia, anhidrotic UMLS:C3887494|UMLS:C0406702|DOID:0111665|OMIM:224900|Orphanet:238468|Orphanet:248 owl:Class UBERON:0014615 biolink:NamedThing accessory nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005350 biolink:NamedThing abdominal aortic aneurysm Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial abdominal 1 OMIM:611891|DOID:7693|OMIM:609782|MESH:D017544|EFO:0004214|SCTID:233985008|OMIM:614375|NCIT:C27000|UMLS:C0162871|OMIM:100070 owl:Class MONDO:0014226 biolink:NamedThing idiopathic CD4 lymphocytopenia Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. tmpte7i6ely_mondo_relaxed.owl idiopathic CD4 positive T-lymphocytopenia|idiopathic Cd4 lymphopenia|immunodeficiency 13|ICL|immunodeficiency type 13|IMD13 SCTID:763713000|UMLS:C3809768|Orphanet:228000|OMIM:615518|ICD10:D72.8|GARD:0012375 owl:Class MONDO:0001998 biolink:NamedThing Foster-Kennedy syndrome Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. tmpte7i6ely_mondo_relaxed.owl ICD9:377.04|MESH:D009901|UMLS:C0152112|EFO:1001330|ICD10:H47.14|DOID:14555|SCTID:87764000 owl:Class MONDO:0004698 biolink:NamedThing intestine carcinoma in situ A carcinoma in situ involving a intestine. tmpte7i6ely_mondo_relaxed.owl stage 0 intestine carcinoma|intestine in situ carcinoma|carcinoma in situ of intestine ICD9:230.7|ICD10:D01.4|UMLS:C0685941|DOID:9024|SCTID:92617001 owl:Class GO:0006699 biolink:NamedThing bile acid biosynthetic process The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. tmpte7i6ely_mondo_relaxed.owl bile acid synthesis|bile acid formation|bile acid anabolism|bile acid biosynthesis owl:Class MONDO:0100382 biolink:NamedThing acute myeloid leukemia, t(6;9)(p23;q34.1) Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.) tmpte7i6ely_mondo_relaxed.owl AML, t(6;9)(p22.3;q34.1)|AML, t(6;9)(p22;q34)|AML, t(6;9)(p23;q34)|AML, t(6;9)(p23;q34.1) NCIT:C82423|NCIT:C36532 owl:Class UBERON:0006127 biolink:NamedThing funiculus of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005200 biolink:NamedThing thoracic mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010020 biolink:NamedThing tubotympanic recess epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010698 biolink:NamedThing optic atrophy 2 Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. tmpte7i6ely_mondo_relaxed.owl OPA2|optic atrophy, non-Leber type, with early onset|non-Leber type optic atrophy with early-onset|optic atrophy type 2|optic atrophy, X-linked|optic atrophy 2 Orphanet:98890|SCTID:721200000|DOID:0111443|MESH:C537125|UMLS:C1839576|GARD:0010199|OMIM:311050|ICD10:H47.2 owl:Class MONDO:0012064 biolink:NamedThing choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome. tmpte7i6ely_mondo_relaxed.owl bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance|Burn-McKeown syndrome|oculootofacial dysplasia|BMKS|choanal atresia deafness cardiac defects dysmorphism OMIM:616462|UMLS:C1835913|GARD:0010041|OMIM:608572|ICD10:Q87.8|MESH:C563682|Orphanet:1200 https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome owl:Class UBERON:0035508 biolink:NamedThing branch of posterior cerebral artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019790 biolink:NamedThing neuroleptic malignant syndrome Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. tmpte7i6ely_mondo_relaxed.owl NMS ICD9:333.92|MESH:D009459|EFO:1001379|NCIT:C94829|Orphanet:94093|MedDRA:10029282|DOID:14464|ICD10:G21.0|GARD:0007195|SCTID:15244003|UMLS:C0027849 https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome owl:Class HGNC:12680 biolink:NamedThing VEGFA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006123 biolink:NamedThing cardiac rhabdomyoma A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis. tmpte7i6ely_mondo_relaxed.owl rhabdomyoma of the heart|heart rhabdomyoma|cardiac rhabdomyoma|rhabdomyoma of heart|cardiac rhabdomyoma (disease) cardiac rhabdomyoma (disease) HP:0009729|EFO:1000150|NCIT:C6739|UMLS:C1332852 owl:Class MONDO:0001234 biolink:NamedThing adhesive otitis media An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. tmpte7i6ely_mondo_relaxed.owl chronic adhesive otitis media|adhesive otitis media|fibrotic adhesive otitis media|adhesive middle ear disease DOID:11235|SCTID:7699004|ICD10:H74.1|ICD9:385.1|UMLS:C0155478|ICD9:385.10 owl:Class MONDO:0002409 biolink:NamedThing auditory system disorder A disease involving the auditory system. tmpte7i6ely_mondo_relaxed.owl ear and mastoid disease|disease of auditory system|disease or disorder of auditory system|disorder of auditory system|auditory system disease or disorder|auditory disease|auditory system disease ICD9:388.9|DOID:2742|ICD10:H93.9|SCTID:362966006|EFO:1001455|ICD10:H93.90 owl:Class MONDO:0015046 biolink:NamedThing gamma-heavy chain disease Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. tmpte7i6ely_mondo_relaxed.owl Franklin disease|gamma heavy chain disease|gamma-HCD|Franklin's disease GARD:0010346|Orphanet:100026|DOID:0060127|NCIT:C3083|ICD10:C88.2|SCTID:109984001|ICD9:273.2 owl:Class MONDO:0044685 biolink:NamedThing autoimmune/inflammatory optic neuropathy tmpte7i6ely_mondo_relaxed.owl Orphanet:499047 owl:Class MONDO:0007073 biolink:NamedThing hypoglossia-hypodactyly syndrome Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl Hanhart syndrome|oromandibular limb hypoplasia|peromelia with micrognathism|aglossia-adactylia|hypoglossia-hypodactylia|peromelia with micrognathia|hypoglossia-hypodactylia syndrome|aglossia adactylia|aglossia-adactylia syndrome|Jussieu syndrome Orphanet:989|OMIM:103300|GARD:0000068|ICD9:759.89|SCTID:35031005|ICD10:Q87.2 owl:Class MONDO:0054868 biolink:NamedThing meconium ileus Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. tmpte7i6ely_mondo_relaxed.owl meconium ileus SCTID:206523001|NCIT:C98979 owl:Class MONDO:0010634 biolink:NamedThing jaundice, familial obstructive, of infancy tmpte7i6ely_mondo_relaxed.owl jaundice, familial obstructive, of infancy UMLS:C1839927|MESH:C564118|OMIM:308600 owl:Class MONDO:0006304 biolink:NamedThing minor salivary gland adenocarcinoma An adenocarcinoma that arises from the minor salivary glands. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland NCIT:C5948|EFO:1000379|UMLS:C1334768 owl:Class MONDO:0009674 biolink:NamedThing muscular dystrophy, adult-onset, with leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, adult-onset, with leukoencephalopathy UMLS:C1854646|MESH:C565361|OMIM:253590 owl:Class NCBITaxon:33345 biolink:NamedThing Heteroptera tmpte7i6ely_mondo_relaxed.owl true bugs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016014 biolink:NamedThing fetal minoxidil syndrome Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. tmpte7i6ely_mondo_relaxed.owl minoxidil antenatal infection|minoxidil antenatal exposure UMLS:C0432373|ICD10:Q86.8|ICD9:760.79|Orphanet:1918|SCTID:254251003|GARD:0002308 https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome owl:Class MONDO:0033925 biolink:NamedThing pediatric-onset Graves disease tmpte7i6ely_mondo_relaxed.owl Orphanet:525731 owl:Class MONDO:0024935 biolink:NamedThing foot rot A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed) tmpte7i6ely_mondo_relaxed.owl foot Rots|rot, foot|Rots, foot UMLS:C0016513|MESH:D005535 owl:Class MONDO:0018165 biolink:NamedThing venous thoracic outlet syndrome Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. tmpte7i6ely_mondo_relaxed.owl Venous cervical rib syndrome|Venous thoracic outlet compression syndrome|Venous TOS|VTOS|Venous costoclavicular syndrome|Venous scalenus anticus syndrome|Paget-Schrotter disease|Venous hyperabduction syndrome|effort subclavian vein thrombosis ICD10:G54.0|SCTID:25981000119102|UMLS:C1956396|Orphanet:357131 owl:Class MONDO:0100005 biolink:NamedThing primary mast cell activation syndrome Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected. tmpte7i6ely_mondo_relaxed.owl primary MACS 2018-07-17 21:43:00+00:00 owl:Class MONDO:0100004 biolink:NamedThing mast cell activation syndrome A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS). tmpte7i6ely_mondo_relaxed.owl disorder of mast cell activation|MACS|mast cell activation disease 2018-07-17 21:32:53+00:00 GARD:0012981 owl:Class HGNC:4805 biolink:NamedThing HAGH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006564 biolink:NamedThing L-serine biosynthetic process The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpte7i6ely_mondo_relaxed.owl L-serine anabolism|L-serine synthesis|L-serine formation|L-serine biosynthesis owl:Class GO:0006563 biolink:NamedThing L-serine metabolic process The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpte7i6ely_mondo_relaxed.owl L-serine metabolism owl:Class GO:0002864 biolink:NamedThing regulation of acute inflammatory response to antigenic stimulus Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011131 biolink:NamedThing intermetacarpal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024287 biolink:NamedThing congenital vascular malformation A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. tmpte7i6ely_mondo_relaxed.owl congenital vascular malformation|vascular malformation NCIT:C112117 owl:Class MONDO:0024291 biolink:NamedThing vascular malformation A non-neoplastic disorder that is the result of defects of vascular morphogenesis. tmpte7i6ely_mondo_relaxed.owl vascular malformation|malformation, vascular|malformations, vascular MESH:D054079 The majority are present at birth. Some can be acquired. owl:Class MONDO:0017481 biolink:NamedThing amelia of lower limb, bilateral tmpte7i6ely_mondo_relaxed.owl ICD10:Q72.0|Orphanet:295059 owl:Class MONDO:0017438 biolink:NamedThing amelia of lower limb A non-syndromic amelia that involves the hindlimb. tmpte7i6ely_mondo_relaxed.owl hindlimb non-syndromic amelia|non-syndromic amelia of hindlimb SCTID:265798000|HP:0009818|Orphanet:294969|ICD10:Q72.0 owl:Class MONDO:0001831 biolink:NamedThing irregular astigmatism tmpte7i6ely_mondo_relaxed.owl UMLS:C0152194|DOID:13919|SCTID:47099006|ICD10:H52.21|ICD9:367.22 owl:Class MONDO:0011284 biolink:NamedThing astigmatism Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl astigmatism (disease)|astigmatism astigmatism (disease) ICD10:H52.20|ICD9:367.20|OMIM:603047|ICD9:367.2|ICD10:H52.2|HP:0000483|DOID:11782|CSP:1116-1831|MESH:D001251|SCTID:82649003|UMLS:C0004106 owl:Class HGNC:23088 biolink:NamedThing SLC10A7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017232 biolink:NamedThing recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. tmpte7i6ely_mondo_relaxed.owl IDMDC Orphanet:280384 owl:Class HGNC:3147 biolink:NamedThing ECEL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009559 biolink:NamedThing metacarpal/tarsal-phalangeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009667 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3|Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related|muscle-eye-brain-POMGNT1 related|MDDGA3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Orphanet:899|UMLS:C3151519|Orphanet:588|DOID:0111236|NCIT:C126740|OMIM:253280 owl:Class HGNC:8032 biolink:NamedThing NTRK2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10 biolink:NamedThing chromosome 10 (Human) tmpte7i6ely_mondo_relaxed.owl 10 133797422 0 hg38 owl:Class MONDO:0012429 biolink:NamedThing Aicardi-Goutieres syndrome 2 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene. tmpte7i6ely_mondo_relaxed.owl RNASEH2B-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 2|Aicardi-Goutieres syndrome type 2|AGS2|Aicardi-Goutieres syndrome caused by mutation in RNASEH2B|RNASEH2B Aicardi-Goutieres syndrome Orphanet:51|OMIM:610181|GARD:0010894|UMLS:C3489724 owl:Class MONDO:0013509 biolink:NamedThing intellectual disability, autosomal dominant 6 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 6|intellectual disability, autosomal dominant 6|mental retardation, autosomal dominant type 6|intellectual disability, autosomal dominant 6, with or without seizures|MRD6|intellectual disability, autosomal dominant type 6|mental retardation, autosomal dominant 6|mental retardation, autosomal dominant 6, with or without seizures|autosomal dominant intellectual disability 6|autosomal dominant non-syndromic intellectual disability 6|GRIN2B autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B DOID:0070036|UMLS:C3151411|OMIM:613970 owl:Class MONDO:0002765 biolink:NamedThing plantar verrucous skin carcinoma A verrucous carcinoma that involves the plantar part of pes. tmpte7i6ely_mondo_relaxed.owl plantar verrucous carcinoma of the skin|plantar verrucous skin carcinoma|plantar verrucous carcinoma of skin|plantar part of pes verrucous carcinoma NCIT:C6811|UMLS:C1335424|DOID:3751 owl:Class MONDO:0100414 biolink:NamedThing acute myeloid leukemia, CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.) tmpte7i6ely_mondo_relaxed.owl AML, CEBPA gene mutation|AML, CEBPA Mutation|AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation|AML, C/EBPalpha Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation|AML, CEBP Gene Mutation|AML, C/EBP-Alpha Gene Mutation NCIT:C151898|NCIT:C38372 owl:Class MONDO:0100483 biolink:NamedThing totally drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin). tmpte7i6ely_mondo_relaxed.owl TDR-TB http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0010846 biolink:NamedThing radius pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042158 biolink:NamedThing lipoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpte7i6ely_mondo_relaxed.owl lipoprotein synthesis|lipoprotein formation|lipoprotein biosynthesis|lipoprotein anabolism owl:Class FOODON:03411081 biolink:NamedThing penaeid shrimp family *Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae] tmpte7i6ely_mondo_relaxed.owl Dendrobranchiata Bate, 1888|Natantia owl:Class FOODON:03411237 biolink:NamedThing shrimp tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002717 biolink:NamedThing spinal cord intramedullary teratoma tmpte7i6ely_mondo_relaxed.owl intramedullary spinal cord teratoma|intramedullary teratoma of the spinal cord|intramedullary teratoma of spinal cord|intramedullary spinal teratoma UMLS:C1334259|DOID:3639|NCIT:C5428 owl:Class NBO:0000339 biolink:NamedThing motor coordination "The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [wikipedia:Motor_coordination] tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33635 biolink:NamedThing polycyclic compound tmpte7i6ely_mondo_relaxed.owl polycyclic compounds owl:Class MONDO:0020820 biolink:NamedThing distal arthrogryposis type 2B1 tmpte7i6ely_mondo_relaxed.owl DA2B1 OMIM:601680|DOID:0111600 owl:Class MONDO:0010364 biolink:NamedThing X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. tmpte7i6ely_mondo_relaxed.owl chromosome Xp11.3 deletion syndrome|nonspecific intellectual disability associated with retinitis pigmentosa|intellectual disability, X-linked, with retinitis pigmentosa|mental retardation, X-linked, with retinitis pigmentosa|Aldred syndrome|retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|X-linked mental handicap-retinitis pigmentosa syndrome|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|nonspecific mental retardation associated with retinitis pigmentosa UMLS:C0795873|GARD:0008360|Orphanet:85332|OMIM:300578|SCTID:719808002|ICD10:H35.5 owl:Class MONDO:0006149 biolink:NamedThing clear cell papillary cystadenoma A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion. tmpte7i6ely_mondo_relaxed.owl clear cell papillary cystadenoma EFO:1000181|ICDO:8443/0|UMLS:C1880102|NCIT:C65203 owl:Class MONDO:0021091 biolink:NamedThing papillary cystadenoma A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures. tmpte7i6ely_mondo_relaxed.owl cystadenoma, papillary, benign|papillary cystadenoma NCIT:C2974|MESH:D018292|UMLS:C0010636|ICDO:8450/0 owl:Class MONDO:0032666 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4|EV4 OMIM:618307 owl:Class GO:0006707 biolink:NamedThing cholesterol catabolic process The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpte7i6ely_mondo_relaxed.owl cholesterol breakdown|cholesterol catabolism|cholesterol degradation owl:Class GO:0008203 biolink:NamedThing cholesterol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. tmpte7i6ely_mondo_relaxed.owl cholesterol metabolism owl:Class MONDO:0011692 biolink:NamedThing basal ganglia calcification, idiopathic, 2 tmpte7i6ely_mondo_relaxed.owl IBGC2|basal ganglia calcification, idiopathic, 2 2022-04-01 Orphanet:1980|MESH:C537657|UMLS:C1847731|OMIM:606656 Reason: duplicate. This will be merged with MONDO:0024538 owl:Class MONDO:0005932 biolink:NamedThing pseudorabies A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. tmpte7i6ely_mondo_relaxed.owl UMLS:C0033839|EFO:0007457|MESH:D011557 owl:Class MONDO:0700126 biolink:NamedThing trisomy 21 A chromosomal disorder consisting of the presence of an extra chromosome 21. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class GO:0006874 biolink:NamedThing cellular calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. tmpte7i6ely_mondo_relaxed.owl regulation of calcium ion concentration owl:Class UBERON:0003924 biolink:NamedThing ventral pancreatic bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009878 biolink:NamedThing pituitary hormone deficiency, combined, 2 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene. tmpte7i6ely_mondo_relaxed.owl pituitary hormone deficiency, combined, 2|pituitary dwarfism 3|Hanhart dwarfism|ateliotic dwarfism with hypogonadism|pituitary hormone deficiency, combined, type 2|panhypopituitarism|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|PROP1 combined pituitary hormone deficiencies, genetic form|CPHD2 Orphanet:95494|OMIM:262600|UMLS:C0878683|Orphanet:90695 owl:Class MONDO:0019591 biolink:NamedThing panhypopituitarism Insufficient production of all the anterior pituitary hormones. tmpte7i6ely_mondo_relaxed.owl Simmond's disease|Simmonds' disease|complete hypopituitarism UMLS:C0242343|OMIM:312000|SCTID:32390006|OMIM:262600|MedDRA:10033662|NCIT:C110940|ICD9:253.2|DOID:9410|Orphanet:90695|ICD10:E23.0 owl:Class MONDO:0000276 biolink:NamedThing Powassan encephalitis A disease caused by infection with Powassan virus. tmpte7i6ely_mondo_relaxed.owl encephalitis, powassan|powassan encephalitis virus infection|Powassan virus caused disease or disorder|Powassan virus disease or disorder|Powassan virus infectious disease ICD9:063.8|UMLS:C1563215|UMLS:C0032858|SCTID:416707008|DOID:0050179 owl:Class MONDO:0012288 biolink:NamedThing iridogoniodysgenesis and skeletal anomalies tmpte7i6ely_mondo_relaxed.owl iridogoniodysgenesis and skeletal anomalies OMIM:609515|MESH:C535534|UMLS:C1836074|GARD:0010058 https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies owl:Class HP:0001480 biolink:NamedThing Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. tmpte7i6ely_mondo_relaxed.owl Freckling SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|UMLS:C0016689|MSH:D008548 human_phenotype owl:Class MONDO:0017793 biolink:NamedThing marfanoid habitus-inguinal hernia-advanced bone age syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:314041|UMLS:CN203743 owl:Class CHEBI:33842 biolink:NamedThing aromatic annulene tmpte7i6ely_mondo_relaxed.owl aromatic annulenes owl:Class CHEBI:33429 biolink:NamedThing monoatomic monoanion tmpte7i6ely_mondo_relaxed.owl monoatomic monoanions owl:Class CHEBI:23905 biolink:NamedThing monoatomic anion tmpte7i6ely_mondo_relaxed.owl monoatomic anions owl:Class MONDO:0004990 biolink:NamedThing breast tumor luminal A or B Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. tmpte7i6ely_mondo_relaxed.owl breast tumor luminal|luminal breast carcinoma|luminal breast cancer NCIT:C53554|NCIT:C53555|EFO:0000306|DOID:0060548 owl:Class MONDO:0000744 biolink:NamedThing lung abscess A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. tmpte7i6ely_mondo_relaxed.owl lung abscess (disease)|lung abscess lung abscess (disease) ICD9:513.0|MESH:D008169|ICD10:J85.2|HP:0025044|EFO:1001362|DOID:0060317|UMLS:C0024110|NCIT:C99090|SCTID:73452002 owl:Class MONDO:0008587 biolink:NamedThing tracheobronchopathia osteochondroplastica Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi. tmpte7i6ely_mondo_relaxed.owl cartilaginous or bony projections into the tracheobronchial lumen|tracheobronchopathia osteoplastica|tracheopathia osteoplastica|tracheobronchopathia osteochondroplastica GARD:0005235|ICD10:J98.0|OMIM:189961|MESH:C536977|SCTID:54675009|Orphanet:3348|UMLS:CN204359 owl:Class NCIT:C15329 biolink:NamedThing Surgical Procedure tmpte7i6ely_mondo_relaxed.owl Surgical Procedure IMDRF:F19 owl:Class UBERON:0005699 biolink:NamedThing pedal digit 5 mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003125 biolink:NamedThing testicular sex cord-stromal neoplasm A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. tmpte7i6ely_mondo_relaxed.owl sex cord-stromal tumor of the testis|testicular sex cord-stromal tumor|sex cord-stromal neoplasm of the testis|sex cord-stromal neoplasm of testis|testis sex cord-stromal tumor|sex cord-stromal neoplasm|sex cord-stromal tumor of testis|testicular sex cord-stromal neoplasm Orphanet:363489|ICD10:C62.1|DOID:4757|UMLS:CN204701|NCIT:C6358|SCTID:702406000|UMLS:C3840076 owl:Class MONDO:0012711 biolink:NamedThing peripapillary atrophy, beta type tmpte7i6ely_mondo_relaxed.owl PPAB|peripapillary atrophy, beta type|peripapillary chorioretinal atrophy, Beta type|peripapillary atrophy, BETA type|Beta-PPA OMIM:611650|MESH:C566898|UMLS:C1968838 owl:Class UBERON:4300227 biolink:NamedThing hindlimb bud mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032715 biolink:NamedThing intellectual developmental disorder, autosomal recessive 69 tmpte7i6ely_mondo_relaxed.owl MRT69|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69|Mental Retardation, Autosomal Recessive 69 OMIM:618383 owl:Class UBERON:0008397 biolink:NamedThing tracheobronchial epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001655 biolink:NamedThing dissociated nystagmus tmpte7i6ely_mondo_relaxed.owl dissociated nystagmus UMLS:C0155380|DOID:13174|ICD10:H55.04|ICD9:379.55|MESH:D009759|SCTID:9520006 owl:Class NCBITaxon:6690 biolink:NamedThing Penaeus aztecus tmpte7i6ely_mondo_relaxed.owl Farfantepenaeus aztecus|Penaeus (Farfantepenaeus) aztecus|brown shrimp GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006012 biolink:NamedThing viral pneumonia Inflammation of the lung parenchyma that is caused by a viral infection. tmpte7i6ely_mondo_relaxed.owl Viruses pneumonia|Viruses caused pneumonia ICD9:480|DOID:10533|UMLS:C0032310|EFO:0007541|ICD10:J12.9|ICD9:480.8|SCTID:75570004|ICD9:480.9|MESH:D011024 owl:Class MONDO:0032837 biolink:NamedThing abdominal obesity-metabolic syndrome 4 tmpte7i6ely_mondo_relaxed.owl AOMS4|ABDOMINAL OBESITY-METABOLIC SYNDROME 4 OMIM:618620 owl:Class MONDO:0000816 biolink:NamedThing abdominal obesity-metabolic syndrome tmpte7i6ely_mondo_relaxed.owl DOID:0060611|OMIMPS:605552|UMLS:C2930930|MESH:C535554 owl:Class MONDO:0012646 biolink:NamedThing glaucoma 1, open angle, H tmpte7i6ely_mondo_relaxed.owl GLC1H|glaucoma 1, open angle, H OMIM:611276|MESH:C566976|UMLS:C1969811 owl:Class MONDO:0014641 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 4 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. tmpte7i6ely_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis 4|FTDALS4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4 OMIM:616439|DOID:0110069|UMLS:C4225325|Orphanet:275872 owl:Class GO:0008509 biolink:NamedThing anion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl anion transporter activity owl:Class MONDO:0009432 biolink:NamedThing hypopituitarism, congenital, with central diabetes insipidus tmpte7i6ely_mondo_relaxed.owl hypopituitarism, congenital, with central diabetes insipidus UMLS:C1855800|OMIM:241540|MESH:C565477 owl:Class MONDO:0013382 biolink:NamedThing progressive demyelinating neuropathy with bilateral striatal necrosis Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. tmpte7i6ely_mondo_relaxed.owl striatal Necrosis, bilateral, and progressive polyneuropathy|THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)|progressive polyneuropathy with bilateral striatal necrosis|bilateral striatal Degeneration and progressive polyneuropathy Orphanet:217396|UMLS:C3150973|OMIM:613710 owl:Class GO:2000253 biolink:NamedThing positive regulation of feeding behavior Any process that activates or increases the frequency, rate or extent of feeding behavior. tmpte7i6ely_mondo_relaxed.owl positive regulation of drinking|positive regulation of behavioral response to food|positive regulation of eating|positive regulation of behavioural response to food|positive regulation of feeding behaviour owl:Class MONDO:0007425 biolink:NamedThing deafness, sensorineural, with peripheral neuropathy and arterial disease tmpte7i6ely_mondo_relaxed.owl deafness, sensorineural, with peripheral neuropathy and arterial disease UMLS:C1852280|MESH:C565120|OMIM:124950 owl:Class MONDO:0013543 biolink:NamedThing trypsinogen deficiency tmpte7i6ely_mondo_relaxed.owl trypsinogen deficiency UMLS:C0268417|ICD9:277.89|SCTID:190953007|OMIM:614044 owl:Class MONDO:0015909 biolink:NamedThing aplastic anemia Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. tmpte7i6ely_mondo_relaxed.owl MESH:D000741|ICD10:D61.1|ICD10:D61.9|Orphanet:182040|NCIT:C2870|ICD9:284.8|ICD10:D61.0|SCTID:306058006|ICD10:D61.2|ICD9:284.9|DOID:12449|ICD10:D61.8|ICD10:D61.3 owl:Class MONDO:0011939 biolink:NamedThing Spondyloenchondrodysplasia with immune dysregulation tmpte7i6ely_mondo_relaxed.owl SEM|spondyloenchondrodysplasia with immune dysregulation|Roifman Immunoskeletal syndrome|SPENCD|spondylometaphyseal dysplasia with enchondromatous changes|Spondyloenchondrodysplasia with immune dysregulation|spondyloenchondrodysplasia|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|spondyloenchondromatosis|spondylometaphyseal dysplasia with combined immunodeficiency|SPENCDI OMIM:271550|ICD9:759.89|MESH:C564307|Orphanet:1855|Orphanet:50816|SCTID:703523004|EFO:0002326|GARD:0004978|ICD9:756.9|OMIM:607944|UMLS:C1842763|ICD10:Q77.7 https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia owl:Class MONDO:0017076 biolink:NamedThing posterior meningocele Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. tmpte7i6ely_mondo_relaxed.owl ICD10:Q05.7|Orphanet:268810|ICD10:Q05.6|ICD10:Q05.1|ICD10:Q05.2|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.9|ICD10:Q05.8|UMLS:CN202439 owl:Class MONDO:0017069 biolink:NamedThing spina bifida cystica A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. tmpte7i6ely_mondo_relaxed.owl spina bifida, open|spina bifida aperta|spina bifida manifesta|meningomyelocele|myelomeningocele|open spina bifida ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.1|ICD10:Q05.2|ICD10:Q05.4|ICD10:Q05.5|MedDRA:10071011|ICD10:Q05.0|ICD10:Q05.3|Orphanet:268744|ICD10:Q05.9|ICD10:Q05.8|NCIT:C101201|MESH:D016137 owl:Class MONDO:0016462 biolink:NamedThing isolated agammaglobulinemia Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. tmpte7i6ely_mondo_relaxed.owl isolated hypogammaglobulinemia|nonsyndromic agammaglobulinemia OMIM:615214|OMIM:613502|OMIM:613500|OMIM:616941|OMIM:300310|OMIM:613501|SCTID:764858009|OMIM:300755|OMIM:601495|Orphanet:229717|OMIM:613506|OMIM:612692 owl:Class MONDO:0012472 biolink:NamedThing Aicardi-Goutieres syndrome 4 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene. tmpte7i6ely_mondo_relaxed.owl Aicardi-Goutieres syndrome 4|RNASEH2A-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2A|Aicardi-Goutieres syndrome type 4|AGS4|RNASEH2A Aicardi-Goutieres syndrome Orphanet:51|MESH:C563681|OMIM:610333|GARD:0010896|UMLS:C1835912 owl:Class ENVO:09000018 biolink:NamedThing concentration of nitrogen atom in water The concentration of a nitrogen atom when measured in water. tmpte7i6ely_mondo_relaxed.owl water nitrogen atom concentration owl:Class MONDO:0004343 biolink:NamedThing pancreatic acinar cell cystadenocarcinoma A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl acinar cell cystadenocarcinoma of the pancreas|acinar cell cystadenocarcinoma|pancreatic acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of pancreas|acinar cell cystadenocarcinoma (morphologic abnormality) UMLS:C1266087|NCIT:C5727|ICDO:8551/3|NCIT:C3874|DOID:7729 owl:Class UBERON:0005808 biolink:NamedThing bone tissue of long bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043923 biolink:NamedThing lichen planus, oral A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. tmpte7i6ely_mondo_relaxed.owl olp - oral lichen planus|oral lichen planus SCTID:235049008|UMLS:C0206139|EFO:1001415|MESH:D017676|NCIT:C7406 owl:Class MONDO:0015352 biolink:NamedThing distal hereditary motor neuropathy type 2 tmpte7i6ely_mondo_relaxed.owl distal spinal muscular atrophy type 2|dHMN2|dSMA2 OMIM:158590|DOID:0111206|OMIM:608634|MESH:C580044|OMIM:613376|OMIM:615575|ICD10:G12.2|Orphanet:139525 owl:Class MONDO:0010197 biolink:NamedThing whistling face syndrome, recessive form tmpte7i6ely_mondo_relaxed.owl whistling face syndrome, recessive form MESH:C536699|UMLS:C1848470|GARD:0010024|DOID:0111606|OMIM:277720|Orphanet:2053 https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form owl:Class HGNC:2190 biolink:NamedThing COL13A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0005523 biolink:NamedThing Lymphoproliferative disorder tmpte7i6ely_mondo_relaxed.owl Lymphoproliferative disorders SNOMEDCT_US:277466009|MSH:D008232|SNOMEDCT_US:414629003|UMLS:C0024314|SNOMEDCT_US:84631004|SNOMEDCT_US:77121009 human_phenotype owl:Class MONDO:0020177 biolink:NamedThing pigmented palpebral tumor tmpte7i6ely_mondo_relaxed.owl pigmented palpebral neoplasm|pigmented eyelid tumor UMLS:CN207037|Orphanet:98586 owl:Class MONDO:0007647 biolink:NamedThing gastric volvulus, intrathoracic tmpte7i6ely_mondo_relaxed.owl gastric volvulus, intrathoracic UMLS:C1850902|MESH:C564989|OMIM:137210 owl:Class GO:0006101 biolink:NamedThing citrate metabolic process The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle. tmpte7i6ely_mondo_relaxed.owl citrate metabolism owl:Class GO:0072350 biolink:NamedThing tricarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-). tmpte7i6ely_mondo_relaxed.owl tricarboxylic acid metabolism owl:Class UBERON:0015013 biolink:NamedThing fibula endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000659 biolink:NamedThing delta-heavy chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). tmpte7i6ely_mondo_relaxed.owl IgD heavy chain disease|delta chain disease|delta heavy chain disease ICD9:203.80|UMLS:C0272253|SCTID:20224008|DOID:0060129 owl:Class MONDO:0023607 biolink:NamedThing Laurence-Prosser-Rocker syndrome tmpte7i6ely_mondo_relaxed.owl Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect|Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly MESH:C537882|GARD:0003201|UMLS:C2931651 https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome owl:Class HGNC:13433 biolink:NamedThing ROBO3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013616 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 3 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. tmpte7i6ely_mondo_relaxed.owl primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|pigmented nodular adrenocortical disease, primary, 3|PDE8B primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, type 3|PPNAD3|Cushing syndrome, adrenal, due to PPNAD3 OMIM:614190|UMLS:C3280094|Orphanet:189439 owl:Class MONDO:0044690 biolink:NamedThing optic perineuritis tmpte7i6ely_mondo_relaxed.owl OPN Orphanet:499107|UMLS:C4076165|SCTID:713417000 owl:Class HGNC:11212 biolink:NamedThing SPAG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025420 biolink:NamedThing gastroenteritis, transmissible, of swine A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. tmpte7i6ely_mondo_relaxed.owl Gastroenteritides, porcine transmissible|porcine Gastroenteritides, transmissible|transmissible porcine gastroenteritis|transmissible gastroenteritis of swine|porcine transmissible Gastroenteritides|gastroenteritis, swine transmissible|transmissible gastroenteritis, porcine|porcine transmissible gastroenteritis|Gastroenteritides, transmissible porcine|porcine gastroenteritis, transmissible|swine transmissible gastroenteritis|Gastroenteritides, swine transmissible|transmissible Gastroenteritides, swine|gastroenteritis, porcine transmissible|gastroenteritis, transmissible porcine|transmissible Gastroenteritides, porcine|transmissible porcine Gastroenteritides|swine transmissible Gastroenteritides|gastroenteritis, transmissible, porcine|transmissible gastroenteritis, swine MESH:D005761|UMLS:C0017162 owl:Class MONDO:0017447 biolink:NamedThing congenital absence/hypoplasia of thumb Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome. tmpte7i6ely_mondo_relaxed.owl thumb hypodactyly|thumb oligodactyly ICD10:Q71.3|Orphanet:294988 owl:Class NCBITaxon:2732421 biolink:NamedThing Papovaviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014405 biolink:NamedThing STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. tmpte7i6ely_mondo_relaxed.owl SAVI|STING-associated vasculopathy, infantile-onset OMIM:615934|Orphanet:425120|UMLS:C4040879|DOID:0111457|SCTID:711164003|ICD9:279.8|UMLS:C4014722|GARD:0012357|ICD10:M35.8 https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy owl:Class MONDO:0010824 biolink:NamedThing disorder of sex development-intellectual disability syndrome Verloes-Gillerot-Fryns syndrome is a rare association of malformations. tmpte7i6ely_mondo_relaxed.owl pseudohermaphroditism-intellectual disability syndrome|Male pseudohermaphroditism intellectual disability syndrome, Verloes type|Verloes Gillerot Fryns syndrome|Verloes-Gillerot-Fryns syndrome|Verloes syndrome|disorder of sex development intellectual disability|male pseudohermaphroditism/mental retardation syndrome, Verloes type|male pseudohermaphroditism/intellectual disability syndrome, Verloes type MESH:C535693|OMIM:600122|ICD10:Q56.3|SCTID:719450007|Orphanet:2983|GARD:0004550 owl:Class MONDO:0003115 biolink:NamedThing subglottic hemangioma A hemangioma arising from the subglottic area. tmpte7i6ely_mondo_relaxed.owl subglottic angioma|hemangioma of subglottis|subglottis angioma|hemangioma of the subglottis|subglottis hemangioma|subglottic hemangioma|angioma of the subglottis|angioma of subglottis DOID:472|UMLS:C1336518|NCIT:C6026 owl:Class HP:0200067 biolink:NamedThing Recurrent spontaneous abortion Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. tmpte7i6ely_mondo_relaxed.owl Spontaneous abortion, recurrent UMLS:C3279439 sebastiankohler 2013-05-31T01:33:01Z human_phenotype owl:Class HP:0005268 biolink:NamedThing Spontaneous abortion A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. tmpte7i6ely_mondo_relaxed.owl Miscarriage SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022 human_phenotype owl:Class HGNC:25964 biolink:NamedThing RETREG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010856 biolink:NamedThing autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). tmpte7i6ely_mondo_relaxed.owl tuberous sclerosis polycystic kidney disease contiguous gene syndrome|chromosome 16P13.3 deletion syndrome, distal|polycystic kidney disease, infantile severe, with tuberous sclerosis|PKDTS|polycystic kidneys, severe infantile with tuberous sclerosis|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome UMLS:C1838327|Orphanet:88924|GARD:0009481|MESH:C536328|SCTID:765331004|OMIM:600273 owl:Class HsapDv:0000126 biolink:NamedThing 32-year-old human stage Adult stage that refers to an adult who is over 32 and under 33. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013680 biolink:NamedThing cognitive impairment with or without cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl cognitive impairment with or without cerebellar ataxia|CIAT OMIM:614306|UMLS:C3280415 owl:Class MONDO:0000616 biolink:NamedThing progesterone-receptor negative breast cancer tmpte7i6ely_mondo_relaxed.owl DOID:0060078 Editor note: check why not in NCIT; note also that triple-negative should be classified here owl:Class ENVO:01001200 biolink:NamedThing anthropised terrestrial environmental zone A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005342 biolink:NamedThing IgA glomerulonephritis Inflammation of a specific segment of glomeruli within the kidney. tmpte7i6ely_mondo_relaxed.owl berger's disease|primary IgA nephropathy|segmental glomerulonephritis|IgA nephropathy|berger's IgA or IgG nephropathy|focal glomerulonephritis|IgA glomerulonephritis SCTID:68779003|DOID:2986|OMIMPS:161950|UMLS:C0017661|MESH:D005922|EFO:0004194|OMIM:161950|Orphanet:34145|NCIT:C34643|ICD9:583.9 owl:Class MONDO:0002938 biolink:NamedThing metatypical basal cell carcinoma A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl skin metatypical carcinoma|basosquamous carcinoma of skin|skin metatypical basal cell carcinoma SCTID:254702000|NCIT:C66903|ICDO:8095/3|DOID:4281 owl:Class MONDO:0014496 biolink:NamedThing mitochondrial complex III deficiency nuclear type 9 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial Complex 3 deficiency, nuclear type 9|mitochondrial complex III deficiency caused by mutation in UQCC3|mitochondrial complex III deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency|MC3DN9 UMLS:C4015253|OMIM:616111|Orphanet:1460|DOID:0080118 owl:Class MONDO:0004548 biolink:NamedThing adult type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases. tmpte7i6ely_mondo_relaxed.owl adult testicular granulosa cell tumor|adult type testicular granulosa cell tumor DOID:8394|NCIT:C39946|UMLS:C1515284 owl:Class MONDO:0003395 biolink:NamedThing testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. tmpte7i6ely_mondo_relaxed.owl granulosa cell tumor of testis|granulosa cell tumor of the testis|granulosa cell neoplasm of testis|testis granulosa cell tumor|testicular granulosa cell tumor|testicular granulosa cell neoplasm|granulosa cell neoplasm of the testis DOID:5331|NCIT:C6357|UMLS:C1336709|EFO:1000567 owl:Class HGNC:4878 biolink:NamedThing HEXA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4250 biolink:NamedThing GGT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006586 biolink:NamedThing neurotic excoriation A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin. tmpte7i6ely_mondo_relaxed.owl dermatitis ficta|dermatitis artefacta|dermatitis factitia [artefacta]|factitious skin disease|dermatitis factitia Wikipedia:Neurotic_excoriations|SCTID:402736003|ICD9:300.19|UMLS:C1274184|EFO:1000741|ICD9:698.4|DOID:9165|ICD10:L98.1 owl:Class GO:0003027 biolink:NamedThing regulation of systemic arterial blood pressure by carotid body chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpte7i6ely_mondo_relaxed.owl vagal reflex|carotid body chemoreceptor regulation of systemic arterial blood pressure|regulation of systemic arterial blood pressure by carotid body chemoreceptor signalling|carotid body chemoreceptor response to lowering of systemic arterial blood pressure owl:Class GO:0016835 biolink:NamedThing carbon-oxygen lyase activity Catalysis of the breakage of a carbon-oxygen bond. tmpte7i6ely_mondo_relaxed.owl other carbon-oxygen lyase activity owl:Class GO:0016829 biolink:NamedThing lyase activity Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. tmpte7i6ely_mondo_relaxed.owl other lyase activity owl:Class MONDO:0004551 biolink:NamedThing Meckel diverticulitis Inflammation of a congenital diverticulum of the lower intestine. tmpte7i6ely_mondo_relaxed.owl Meckel diverticulitis|Meckel's diverticulitis|inflammation of Meckel's diverticulum|Meckel's diverticulum inflammation SCTID:48241004|DOID:8408|UMLS:C0267497|NCIT:C27300 owl:Class UBERON:0018303 biolink:NamedThing adrenal tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017843 biolink:NamedThing congenital pulmonary sequestration A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. tmpte7i6ely_mondo_relaxed.owl congenital bronchopulmonary sequestration|sequestered lobe (pulmonary sequestration)|bronchopulmonary sequestration|pulmonary sequestration|congenital sequestration of lung UMLS:C4020703|NCIT:C97124|SCTID:18620009|Orphanet:3161|MESH:D001998|ICD10:Q33.2|GARD:0004593 owl:Class MONDO:0003095 biolink:NamedThing laryngeal mucoepidermoid carcinoma A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms. tmpte7i6ely_mondo_relaxed.owl larynx mucoepidermoid carcinoma|mucoepidermoid carcinoma of the larynx|laryngeal mucoepidermoid carcinoma|laryngeal throat mucoepidermoid cancer|mucoepidermoid carcinoma of larynx NCIT:C9463|DOID:4688|UMLS:C1334373 owl:Class NCBITaxon:38820 biolink:NamedThing Poales tmpte7i6ely_mondo_relaxed.owl PMID:26350789|GC_ID:1 NCBITaxon:4727|NCBITaxon:4478 ncbi_taxonomy owl:Class NCBITaxon:4734 biolink:NamedThing commelinids tmpte7i6ely_mondo_relaxed.owl Commelinidae|Commeliniflorae PMID:26350789|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022634 biolink:NamedThing camptodactyly vertebral fusion tmpte7i6ely_mondo_relaxed.owl camptodactyly and sacral vertebral fusion (subtype)|camptodactyly and sacral vertebral fusion UMLS:C2931682|MESH:C537973|GARD:0001070 https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion owl:Class UBERON:0005884 biolink:NamedThing hyoid arch skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904676 biolink:NamedThing negative regulation of somatic stem cell division Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. tmpte7i6ely_mondo_relaxed.owl down regulation of somatic stem cell division|down-regulation of somatic stem cell renewal|down-regulation of somatic stem cell division|inhibition of somatic stem cell renewal|inhibition of somatic stem cell division|negative regulation of somatic stem cell renewal|downregulation of somatic stem cell renewal|downregulation of somatic stem cell division|down regulation of somatic stem cell renewal owl:Class HGNC:195 biolink:NamedThing ADAM17 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100441 biolink:NamedThing GUCY2D-related dominant retinopathy A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene. tmpte7i6ely_mondo_relaxed.owl choroidal dystrophy, central areolar, 1|GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|central areolar choroidal dystrophy caused by mutation in GUCY2D|choroidal sclerosis|GUCY2D central areolar choroidal dystrophy|CORD6|cone-rod dystrophy 6|cone-rod dystrophy caused by mutation in GUCY2D|RCD2|CACD1|dominant GUCY2D retinopathy|cone-rod dystrophy type 6|choroidal dystrophy, central areolar owl:Class MONDO:0100454 biolink:NamedThing GUCY2D retinopathy Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpte7i6ely_mondo_relaxed.owl retinopathy caused by mutation in GUCY2D http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0007000 biolink:NamedThing Treponema infectious disease An disease caused by infection with Treponema. tmpte7i6ely_mondo_relaxed.owl Bejels|Treponema caused disease or disorder|Treponema disease or disorder|bejel|infections, Treponemal|infection, Treponemal|Treponemal infection GARD:0007798|EFO:1001217|NCIT:C85197|MESH:D014211 owl:Class MONDO:0017349 biolink:NamedThing myopericytoma A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course. tmpte7i6ely_mondo_relaxed.owl hemangiopericytoma|MPC|solitary myofibroma Orphanet:289685|NCIT:C50401|UMLS:C1302808|ONCOTREE:MPC|ICDO:8713/1 owl:Class MONDO:0015382 biolink:NamedThing lower lip fistula A cysts and fistulae of the face and oral cavity that involves the lower lip. tmpte7i6ely_mondo_relaxed.owl lower lip cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of lower lip Orphanet:141064|ICD10:Q38.0 owl:Class MONDO:0022615 biolink:NamedThing burn goodship syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001041 https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome owl:Class MONDO:0008772 biolink:NamedThing amelogenesis imperfecta type 2A1 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene. tmpte7i6ely_mondo_relaxed.owl KLK4 amelogenesis imperfecta|amelogenesis imperfecta, pigmented hypomaturation type, 1|AI2A1|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta type IIA1|amelogenesis imperfecta caused by mutation in KLK4|amelogenesis imperfecta pigmented hypomaturation type|amelogenesis imperfecta pigmented hypomaturation type 1 MESH:C538242|ICD10:K00.5|MESH:C567146|GARD:0009495|DOID:0110057|OMIM:204700|Orphanet:100033 https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type owl:Class MONDO:0001988 biolink:NamedThing external pathological resorption tmpte7i6ely_mondo_relaxed.owl DOID:14529|ICD10:K03.3|SCTID:41918006|ICD9:521.42|UMLS:C0266878 owl:Class MONDO:0004235 biolink:NamedThing diverticulitis An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. tmpte7i6ely_mondo_relaxed.owl inflammation of digestive tract diverticulum|digestive tract diverticulum inflammation EFO:1001460|DOID:7475|NCIT:C26752|UMLS:C0012813|SCTID:307496006|MESH:D004238 owl:Class MONDO:0009915 biolink:NamedThing 46,XX disorder of sex development-skeletal anomalies syndrome tmpte7i6ely_mondo_relaxed.owl female pseudohermaphroditism-skeletal anomalies syndrome|pseudohermaphroditism, female, with skeletal anomalies ICD10:Q56.2|MESH:C564869|UMLS:C1849696|Orphanet:2975|OMIM:264270 owl:Class MONDO:0017576 biolink:NamedThing 46,XX disorder of sex development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. tmpte7i6ely_mondo_relaxed.owl 46,XX disorders of Sex development|46,XX differences of Sex development|46,XX DSD|female pseudohermaphroditism MESH:D058489|UMLS:C2936403|ICD10:Q56.2|UMLS:CN776919|SCTID:8800006|Orphanet:2982|NCIT:C127169 owl:Class MONDO:0006478 biolink:NamedThing undifferentiated pancreatic carcinoma A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells. tmpte7i6ely_mondo_relaxed.owl undifferentiated pancreatic carcinoma|UCP|undifferentiated carcinoma of pancreas|undifferentiated (anaplastic) pancreatic carcinoma|pancreatic carcinosarcoma|undifferentiated carcinoma of the pancreas|pancreas undifferentiated carcinoma|sarcomatoid pancreatic carcinoma|pleomorphic large cell pancreatic carcinoma|spindle cell pancreatic carcinoma UMLS:C1336861|ONCOTREE:UCP|NCIT:C5722|EFO:1000606 owl:Class HGNC:9726 biolink:NamedThing PYGM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021482 biolink:NamedThing benign neoplasm of middle ear A benign neoplasm that involves the middle ear. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the middle Ear|benign middle Ear neoplasm|benign tumor of the middle Ear|benign middle Ear tumor|middle ear benign neoplasm|benign tumor of middle Ear SCTID:92218002|NCIT:C4602|UMLS:C0347213|ICD9:212.0 owl:Class CL:1000892 biolink:NamedThing kidney capillary endothelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001030 cell owl:Class UBERON:0004916 biolink:NamedThing anal sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019224 biolink:NamedThing inborn disorder of gamma-aminobutyric acid metabolism An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process. tmpte7i6ely_mondo_relaxed.owl rare inborn error of gamma-aminobutyric acid metabolic process|disorder of gamma-aminobutyric acid metabolism|inborn gamma-aminobutyric acid metabolic process disorder|disorder of GABA metabolism|inborn error of gamma-aminobutyric acid metabolic process ICD10:E72.8|UMLS:CN227591|Orphanet:79175 owl:Class HGNC:1492 biolink:NamedThing SHPK tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004263 biolink:NamedThing upper arm skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008673 biolink:NamedThing acrofacial dysostosis, Weyers type Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. tmpte7i6ely_mondo_relaxed.owl Weyers acrofacial dysostosis|acrodental dysostosis of Weyers|acrofacial dysostosis of Weyers|curry Hall syndrome|curry-Hall syndrome|wad|Weyers acrodental dysostosis ICD9:520.8|GARD:0000497|MESH:C536695|SCTID:277807007|OMIM:193530|ICD10:Q75.4|UMLS:C0457013|DOID:0111571|Orphanet:952 owl:Class UBERON:0013697 biolink:NamedThing exocrine pancreas epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022742 biolink:NamedThing occupational asthma Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. tmpte7i6ely_mondo_relaxed.owl Occupational asthma|Asthmas, Occupational|occupational asthma|industrial asthma|Asthma, Occupational|Industrial asthma|Occupational Asthmas|Occupational Asthma UMLS:C0264423|MESH:D059366|SCTID:57607007 owl:Class MONDO:0030036 biolink:NamedThing leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome tmpte7i6ely_mondo_relaxed.owl LEMSPAD|leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome|LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME|Lemspad Syndrome OMIM:618878 owl:Class MONDO:0006718 biolink:NamedThing cutaneous syphilis Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409) tmpte7i6ely_mondo_relaxed.owl Treponema pallidum caused skin disease caused by bacterial infection|Treponema pallidum skin disease caused by bacterial infection EFO:1000887|MESH:D013591|ICD10:A50.06 owl:Class ENVO:01000687 biolink:NamedThing coast A coast is the area where land meets the sea, ocean, or lake. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001784 biolink:NamedThing compound astronomical body part A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054739 biolink:NamedThing Fraser syndrome 3 tmpte7i6ely_mondo_relaxed.owl Fraser syndrome 3|FRASRS3 DOID:0111406|UMLS:C4540040|OMIM:617667 owl:Class MONDO:0007998 biolink:NamedThing microspherophakia-metaphyseal dysplasia syndrome Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. tmpte7i6ely_mondo_relaxed.owl microspherophakia-metaphyseal dysplasia|dominantly inherited bone dysplasia with severe eye involvement|Verloes Van Maldergem Marneffe syndrome|Verloes-Van Maldergem-de Marneffe syndrome Orphanet:2551|UMLS:C1834880|MESH:C536540|ICD10:Q87.5|OMIM:157151|GARD:0005481 owl:Class MONDO:0700125 biolink:NamedThing chromosome 18 disorder Chromosomal disorder in which chromosome 18 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HP:0009122 biolink:NamedThing Aplasia/hypoplasia affecting bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. tmpte7i6ely_mondo_relaxed.owl UMLS:C4024585 peter 2008-04-05T11:29:00Z human_phenotype owl:Class MONDO:0010278 biolink:NamedThing Christianson syndrome Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability, South African type|Angelman-like syndrome, X-linked|intellectual disability, X-linked, syndromic, Christianson type|intellectual disability microcephaly epilepsy and ataxia syndrome|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy|intellectual disability, microcephaly, epilepsy, and ataxia syndrome|Angelman-like syndrome x-linked|intellectual disability, X-linked syndromic, Christianson type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|mental retardation, X-linked syndromic, Christianson type|intellectual disability x-linked syndromic Christianson type|Christianson syndrome|mental retardation, X-linked, syndromic, Christianson type|X-linked Angelman-like syndrome|MRXS Christianson|MRXSCH ICD9:759.89|Orphanet:85278|UMLS:C2678194|MESH:C567484|SCTID:702354007|ICD10:Q87.8|OMIM:300243|GARD:0010572|DOID:0060825 https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome owl:Class GO:0016454 biolink:NamedThing C-palmitoyltransferase activity Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002149 biolink:NamedThing superior salivatory nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013874 biolink:NamedThing glucocorticoid deficiency 4 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene. tmpte7i6ely_mondo_relaxed.owl familial glucocorticoid deficiency caused by mutation in NNT|glucocorticoid deficiency type 4|GCCD4|glucocorticoid deficiency 4|NNT familial glucocorticoid deficiency|glucocorticoid deficiency 4 with or without mineralocorticoid deficiency UMLS:C3553587|Orphanet:361|NCIT:C131452|OMIM:614736 owl:Class UBERON:0004885 biolink:NamedThing hilum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020165 biolink:NamedThing syndromic epicanthus tmpte7i6ely_mondo_relaxed.owl Orphanet:98574|UMLS:CN227805 owl:Class MONDO:0008854 biolink:NamedThing Bardet-Biedl syndrome 1 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome 1|Bardet-Biedl syndrome type 1|BBS1 UMLS:C2936862|UMLS:C1859565|UMLS:C1859566|OMIM:209900|GARD:0000820|UMLS:C3714980|UMLS:C2673873|MESH:C537909|UMLS:C1859564|UMLS:C2673874|UMLS:C0752166|EFO:0009021|UMLS:C1859570|ICD10:Q87.89|UMLS:C3150127|UMLS:C1859567|DOID:0110123|Orphanet:110|UMLS:C3806174|UMLS:C1859569|UMLS:C1859568|UMLS:C1858054 owl:Class HGNC:8910 biolink:NamedThing PGR tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045915 biolink:NamedThing positive regulation of catecholamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpte7i6ely_mondo_relaxed.owl activation of catecholamine metabolic process|stimulation of catecholamine metabolic process|upregulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|up regulation of catecholamine metabolic process|up-regulation of catecholamine metabolic process owl:Class GO:0033240 biolink:NamedThing positive regulation of cellular amine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpte7i6ely_mondo_relaxed.owl positive regulation of amine metabolism owl:Class CL:1000143 biolink:NamedThing lung goblet cell tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000272 biolink:NamedThing lung secretory cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002461 biolink:NamedThing membranoproliferative glomerulonephritis Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. tmpte7i6ely_mondo_relaxed.owl chronic glomerulonephritis, lobular|membranoproliferative glomerulonephritis (disease)|membranoproliferative glomerulonephritis|lobular glomerulonephritis membranoproliferative glomerulonephritis (disease) SCTID:80321008|UMLS:C0017662|NCIT:C34644|DOID:2920|HP:0000793|MESH:D015432 owl:Class HGNC:6692 biolink:NamedThing LRP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018599 biolink:NamedThing congenital oculomotor nerve palsy tmpte7i6ely_mondo_relaxed.owl congenital third cranial nerve palsy|congenital CNIII lesion Orphanet:440221|ICD10:Q07.8 owl:Class MONDO:0001944 biolink:NamedThing mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. tmpte7i6ely_mondo_relaxed.owl malaria by more than one parasite|malaria fever by more than one parasite ICD9:084.5|SCTID:21070001|UMLS:C0153121|DOID:14325 owl:Class MONDO:0016934 biolink:NamedThing partial duplication of chromosome 16 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome type 16|partial trisomy of chromosome 16 Orphanet:262672|SCTID:726355001 owl:Class MONDO:0018123 biolink:NamedThing intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. tmpte7i6ely_mondo_relaxed.owl autosomal recessive intellectual disability due to TRAPPC9 deficiency|intellectual disability-obesity-brain malformations-facial dysmorphism syndrome UMLS:CN204496|ICD10:Q04.8|Orphanet:352530 owl:Class MONDO:0003825 biolink:NamedThing kidney oncocytoma A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. tmpte7i6ely_mondo_relaxed.owl oncocytoma kidney|kidney oncocytic neoplasm|ROCY|renal epithelial oncocytic neoplasm|oncocytoma of the kidney|oncocytoma of kidney|oncocytoma renal|renal oncocytoma|renal epithelial oncocytic tumor|kidney oncocytoma NCIT:C4526|ONCOTREE:ROCY|DOID:6245|EFO:1000315|SCTID:254922006|MESH:C537750|OMIM:553000|GARD:0008477|UMLS:C0346255 https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma owl:Class MONDO:0003200 biolink:NamedThing urethra adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urethra tmpte7i6ely_mondo_relaxed.owl urethral adenocarcinoma|UAD|urethra adenocarcinoma|adenocarcinoma of the urethra|adenocarcinoma of urethra DOID:4910|UMLS:C1336885|ONCOTREE:UAD|NCIT:C6167 owl:Class MONDO:0021327 biolink:NamedThing carcinoma of urethra A carcinoma that involves the urethra. tmpte7i6ely_mondo_relaxed.owl urethral cancer|urethral carcinoma|urethra carcinoma|carcinoma of urethra|carcinoma of the urethra NCIT:C9106|SCTID:448954003 owl:Class HP:0002577 biolink:NamedThing Abnormal stomach morphology An abnormality of the stomach. tmpte7i6ely_mondo_relaxed.owl Abnormality of the stomach UMLS:C4025699 The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. human_phenotype owl:Class MONDO:0012389 biolink:NamedThing myopia 12, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 12, autosomal dominant|MYP12 OMIM:609995|UMLS:C1864940|MESH:C566489 owl:Class MONDO:0006723 biolink:NamedThing denture stomatitis Inflammation of the mouth due to denture irritation. tmpte7i6ely_mondo_relaxed.owl denture sore mouth ICD9:528.9|DOID:11875|UMLS:C0038364|ICD10:K12.1|EFO:1000893|SCTID:69254008|MESH:D013282 owl:Class MONDO:0012796 biolink:NamedThing retinitis pigmentosa 41 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene. tmpte7i6ely_mondo_relaxed.owl PROM1 retinitis pigmentosa|retinitis pigmentosa 41|RP 41|retinitis pigmentosa caused by mutation in PROM1|retinal Degeneration, autosomal recessive, prominin-related|RP41|retinitis pigmentosa type 41 OMIM:612095|UMLS:C2677516|DOID:0110376|GARD:0010379|ICD10:H35.5|MESH:C567422 https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41 owl:Class MONDO:0005220 biolink:NamedThing collecting duct carcinoma A carcinoma that arises from epithelial cells of the collecting duct of renal tubule tmpte7i6ely_mondo_relaxed.owl collecting duct of renal tubule carcinoma|carcinoma of the collecting ducts of Bellini|collecting duct carcinoma of the kidney|renal carcinoma, collecting duct type|carcinoma of kidney collecting duct|kidney collecting duct carcinoma|carcinoma of the kidney collecting duct|carcinoma of renal collecting duct|carcinoma of collecting ducts of Bellini|Bellini carcinoma|renal medullary carcinoma|Bellini duct carcinoma|cDC|carcinoma of the renal collecting duct|BDC|carcinoma of collecting duct of renal tubule|collecting duct carcinoma|Bellini’s duct carcinoma|collecting duct renal cancer|collecting duct renal cell carcinoma|renal collecting duct carcinoma Orphanet:247203|GARD:0009573|UMLS:C1266044|ONCOTREE:CDRCC|ICD10:C64|MESH:D002292|NCIT:C6194|EFO:0003016|ICDO:8319/3|DOID:4464 owl:Class MONDO:0009845 biolink:NamedThing pelviscapular dysplasia Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl pelviscapular dysplasia|Cousin syndrome|craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|COUSIN syndrome|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia GARD:0001555|UMLS:C1850040|ICD10:Q87.5|OMIM:260660|Orphanet:93333|SCTID:719299009|MESH:C535550 owl:Class CHEBI:72813 biolink:NamedThing exopolysaccharide A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. tmpte7i6ely_mondo_relaxed.owl extracellular polymeric substances|extracellular polymeric substance|exopolysaccharides owl:Class CHEBI:33694 biolink:NamedThing biomacromolecule A macromolecule formed by a living organism. tmpte7i6ely_mondo_relaxed.owl Biopolymere|biopolymer|biopolymers|biomacromolecules owl:Class MONDO:0030043 biolink:NamedThing congenital disorder of glycosylation, type iit tmpte7i6ely_mondo_relaxed.owl Cdg Iit|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt|CDG2T OMIM:618885 owl:Class MONDO:0012496 biolink:NamedThing Koolen-de Vries syndrome A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. tmpte7i6ely_mondo_relaxed.owl Koolen-DE Vries syndrome|KdVS|Koolen de Vries syndrome|chromosome 17Q21.31 deletion syndrome|chromosome 17q21.31 microdeletion syndrome|KDVS|17q21.31 deletion syndrome|KANSL1-related intellectual disability syndrome|chromosome 17q21.31 deletion syndrome|microdeletion 17Q21.31 syndrome|microdeletion 17q21.31 syndrome|Koolen-De Vries syndrome OMIM:610443|DOID:0050880|Orphanet:96169|ICD10:Q93.5|GARD:0010727|MESH:C566476|UMLS:CN776874|UMLS:C1864871|DOID:0070076|SCTID:717338006 Editor note: DOID classifies as non-syndromic but we classify as syndromic owl:Class MONDO:0000679 biolink:NamedThing social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. tmpte7i6ely_mondo_relaxed.owl expressive agnosia DOID:0060149 owl:Class MONDO:0012964 biolink:NamedThing chromosome 15q26-qter deletion syndrome Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. tmpte7i6ely_mondo_relaxed.owl chromosome 15q26-qter deletion syndrome|telomeric 15q deletion syndrome|distal monosomy type 15q|distal 15q deletion syndrome|monosomy 15q26|15q26 deletion syndrome|Drayer syndrome|distal monosomy 15q OMIM:612626|UMLS:C2675463|SCTID:766050000|MESH:C567232|ICD10:Q93.5|DOID:0060397|Orphanet:1596 owl:Class MONDO:0009189 biolink:NamedThing multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. tmpte7i6ely_mondo_relaxed.owl rMED|Polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with clubfoot|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia with double-layered patella|epiphyseal dysplasia multiple 4|multiple epiphyseal dysplasia 4|EDM4|epiphyseal dysplasia, multiple, 4|epiphyseal dysplasia, multiple, type 4|multiple epiphyseal dysplasia, autosomal recessive|SLC26A2 multiple epiphyseal dysplasia (disease)|MED4|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2 SCTID:715672007|MESH:C535504|UMLS:C1847593|Orphanet:93307|DOID:0070300|GARD:0009793|OMIM:226900|ICD10:Q77.3 owl:Class MONDO:0009347 biolink:NamedThing familial lipochrome histiocytosis tmpte7i6ely_mondo_relaxed.owl histiocytosis, familial lipochrome MESH:C562738|OMIM:235900|SCTID:234577004|UMLS:C0334125 owl:Class UBERON:0013228 biolink:NamedThing sweat gland of eyelid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005061 biolink:NamedThing lung adenocarcinoma A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. tmpte7i6ely_mondo_relaxed.owl nonsmall cell adenocarcinoma|adenocarcinoma of lung|lung adenocarcinoma|non-small cell lung adenocarcinoma|bronchogenic lung adenocarcinoma|adenocarcinoma of the lung NCIT:C3512|OMIM:211980|DOID:3910|Orphanet:415268|EFO:0000571|MESH:C538231|UMLS:C0152013|SCTID:254626006|EFO:0005288|GARD:0005742|ONCOTREE:LUAD https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma owl:Class MONDO:0033862 biolink:NamedThing primary autoimmune enteropathy tmpte7i6ely_mondo_relaxed.owl Orphanet:522037 owl:Class UBERON:0005151 biolink:NamedThing metanephric proximal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10419 biolink:NamedThing RPS29 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014131 biolink:NamedThing hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl SHAHEEN syndrome|SHNS OMIM:615328|UMLS:C3809160|ICD10:Q82.8|Orphanet:363523 owl:Class MONDO:0013913 biolink:NamedThing hypogonadotropic hypogonadism 11 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism 11 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in TACR3|HH11|TACR3 hypogonadotropic hypogonadism DOID:0090071|ICD10:E23.0|UMLS:C3553844|OMIM:614840 owl:Class MONDO:0018146 biolink:NamedThing idiopathic macular telangiectasia type 1 Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. tmpte7i6ely_mondo_relaxed.owl visible and exudative idiopathic juxtafoveolar retinal telangiectasis|aneurysmal telangiectasia ICD10:H35.5|Orphanet:353344|UMLS:CN204544 owl:Class MONDO:0016710 biolink:NamedThing medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis. tmpte7i6ely_mondo_relaxed.owl MBEN|medulloblastoma with extensive nodularity|cerebellar neuroblastoma|medulloblastoma with extensive nodularity and advanced neuronal differentiation|nodular medulloblastoma ONCOTREE:MBEN|ICD10:C71.6|OMIM:155255|ICDO:9471/3|UMLS:C1334970|Orphanet:251858|UMLS:CN201957|NCIT:C5407 owl:Class GO:0014054 biolink:NamedThing positive regulation of gamma-aminobutyric acid secretion Any process that activates or increases the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpte7i6ely_mondo_relaxed.owl activation of gamma-aminobutyric acid secretion|upregulation of gamma-aminobutyric acid secretion|stimulation of gamma-aminobutyric acid secretion|up-regulation of gamma-aminobutyric acid secretion|up regulation of gamma-aminobutyric acid secretion|positive regulation of GABA secretion owl:Class MONDO:0021294 biolink:NamedThing carcinoma in situ of gastric cardia A in situ carcinoma that involves the cardia of stomach. tmpte7i6ely_mondo_relaxed.owl cardia of stomach carcinoma in situ|carcinoma in situ of the cardia of the stomach|carcinoma in situ of cardia of stomach|cardia of stomach in situ carcinoma|gastric cardia carcinoma in situ|carcinoma in situ of the gastric cardia|stage 0 gastric cardia carcinoma|gastric cardia carcinoma in situ aJCC v6 and v7|stage 0 cardia of stomach carcinoma NCIT:C4428|SCTID:92560002|UMLS:C0345795 owl:Class MONDO:0007587 biolink:NamedThing external auditory canal atresia-vertical talus-hypertelorism syndrome tmpte7i6ely_mondo_relaxed.owl external auditory canal, bilateral atresia of, with congenital vertical talus|Rasmussen Johnsen Thomsen syndrome|Rasmussen syndrome|Rasmussen-Johnsen-Thomsen syndrome|inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance GARD:0004638|Orphanet:3023|OMIM:133705|UMLS:C2930867|ICD10:Q87.8 owl:Class HGNC:7489 biolink:NamedThing MT-TK tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019292 biolink:NamedThing white matter of pons tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030300 biolink:NamedThing cardiomyopathy, dilated, 2D tmpte7i6ely_mondo_relaxed.owl CMD2D|cardiomyopathy, dilated, 2D OMIM:619371 owl:Class MONDO:0008799 biolink:NamedThing anophthalmia/microphthalmia-esophageal atresia syndrome Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic type 3|SOX2-related eye disorders|anophthalmia esophageal genital syndrome|syndromic microphthalmia type 3|anophthalmia, clinical, with associated anomalies|MCOPS3|anophthalmia clinical with associated anomalies|anophthalmia microphthalmia esophageal atresia|anophthalmia/microphthalmia-esophageal atresia syndrome|syndromic microphthalmia, type 3|microphthalmia and esophageal atresia syndrome|microphthalmia, syndromic 3|optic nerve hypoplasia and abnormalities of the central nervous system|Aeg syndrome|anophthalmia-esophageal-genital syndrome|SOX2 anophthalmia syndrome OMIM:206900|SCTID:698851003|Orphanet:77298|ICD10:Q87.8|ICD9:758.5|GARD:0001443 owl:Class ENVO:02500001 biolink:NamedThing desertification A type of land degradation in which terrestrial ecosystem becomes increasingly dry, typically losing its bodies of water as well as vegetation and wildlife. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:02500005 biolink:NamedThing land degradation A process which diminishes the functioning of an ecosystem located on land. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007233 biolink:NamedThing second branchial cleft anomaly A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. tmpte7i6ely_mondo_relaxed.owl second branchial cleft fistula|branchial cleft anomalies|second branchial cleft cyst|branchial cysts|branchial cleft|branchial cleft remnant NCIT:C104813|Orphanet:141022|ICD10:Q18.0|SCTID:73381000119100|OMIM:113600 owl:Class UBERON:0014394 biolink:NamedThing uterine fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018357 biolink:NamedThing neonatal antiphospholipid syndrome tmpte7i6ely_mondo_relaxed.owl neonatal antiphospholipid antibody syndrome|neonatal Hughes syndrome Orphanet:398097|ICD10:D68.6|UMLS:CN226098 owl:Class CL:0002676 biolink:NamedThing neural crest derived neuroblast A neuroblast derived from a neural crest cell. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-08-22T09:24:15Z cell owl:Class MONDO:0004475 biolink:NamedThing thymus clear cell carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm. tmpte7i6ely_mondo_relaxed.owl thymic clear cell carcinoma|Thymus clear cell carcinoma|clear cell carcinoma of the Thymus|clear cell carcinoma of Thymus|thymus clear cell carcinoma UMLS:C1333069|DOID:8137|NCIT:C6462 owl:Class MONDO:0006245 biolink:NamedThing hidradenocarcinoma A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes. tmpte7i6ely_mondo_relaxed.owl clear cell eccrine carcinoma|hidradenocarcinoma GARD:0010439|EFO:1000295|NCIT:C54664|ICDO:8402/3 owl:Class GO:0009165 biolink:NamedThing nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). tmpte7i6ely_mondo_relaxed.owl nucleotide synthesis|nucleotide biosynthesis|nucleotide anabolism|nucleotide formation owl:Class MONDO:0014532 biolink:NamedThing autosomal dominant mitochondrial myopathy with exercise intolerance tmpte7i6ely_mondo_relaxed.owl myopathy, isolated mitochondrial, autosomal dominant|IMMD OMIM:616209|Orphanet:457050|ICD10:G71.3|UMLS:C4015513 owl:Class MONDO:0012413 biolink:NamedThing syndromic microphthalmia type 5 Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. tmpte7i6ely_mondo_relaxed.owl microphthalmia syndromic 5|microphthalmia, syndromic 5|syndromic microphthalmia caused by mutation in OTX2|retinal dystrophy, early-onset, with or without pituitary dysfunction|OTX2 syndromic microphthalmia|OTX2-related eye disorders|microphthalmia, syndromic type 5|syndromic microphthalmia/anophthalmia due to OTX2 mutation|syndromic microphthalmia type 5|MCOPS5 Orphanet:178364|OMIM:610125|UMLS:C1864690|ICD10:Q11.2|SCTID:718761007|UMLS:C4305151|MESH:C566441|GARD:0003692 owl:Class MONDO:0011459 biolink:NamedThing arrhythmogenic right ventricular dysplasia 5 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene. tmpte7i6ely_mondo_relaxed.owl familial arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|ARVD5|arrhythmogenic right ventricular dysplasia type 5|arrhythmogenic right ventricular dysplasia, familial, 5|ARVC5|arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia, familial, type 5|arrhythmogenic right ventricular cardiomyopathy 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy Orphanet:217656|MESH:C565776|UMLS:C1858379|DOID:0110074|ICD10:I42.8|OMIM:604400 owl:Class MONDO:0020789 biolink:NamedThing pseudo-TORCH syndrome 1 tmpte7i6ely_mondo_relaxed.owl pseudo-TORCH syndrome type 1|PTORCH1|pseudo-TORCH syndrome|pseudo-TORCH syndrome 1 OMIM:251290 owl:Class MONDO:0019153 biolink:NamedThing brain malformation-congenital heart disease-postaxial polydactyly syndrome Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. tmpte7i6ely_mondo_relaxed.owl Goossens-Devriendt syndrome UMLS:C4303545|SCTID:717943008|Orphanet:75389|ICD10:Q87.8 owl:Class MONDO:0014063 biolink:NamedThing mitochondrial complex III deficiency nuclear type 2 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex III deficiency nuclear type 2|TTC19 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 2|MC3DN2|mitochondrial Complex 3 deficiency, nuclear type 2|mitochondrial complex III deficiency caused by mutation in TTC19 DOID:0060351|OMIM:615157|UMLS:C3554605|Orphanet:1460 owl:Class MONDO:0027462 biolink:NamedThing autosomal recessive cutis laxa type 2C An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. tmpte7i6ely_mondo_relaxed.owl cutis laxa, autosomal recessive, type IIC|ARCL2C|autosomal recessive cutis laxa type IIC|cutis laxa, autosomal recessive, type 2C Orphanet:357074|DOID:0070140|OMIM:617402|ICD10:Q82.8 owl:Class MONDO:0006555 biolink:NamedThing granulomatous dermatitis An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells. tmpte7i6ely_mondo_relaxed.owl DOID:4397|NCIT:C3505|EFO:1000705|UMLS:C0743086 owl:Class MONDO:0006468 biolink:NamedThing thyroid gland undifferentiated (anaplastic) carcinoma A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. tmpte7i6ely_mondo_relaxed.owl anaplastic thyroid gland carcinoma|thyroid gland carcinosarcoma|undifferentiated carcinoma of the thyroid|thyroid cancer, anaplastic|anaplastic thyroid carcinoma|anaplastic carcinoma of thyroid|pleomorphic thyroid gland carcinoma|undifferentiated (anaplastic) thyroid gland cancer|undifferentiated thyroid carcinoma|thyroid gland undifferentiated (anaplastic) carcinoma|undifferentiated thyroid tumor|undifferentiated (anaplastic) thyroid gland carcinoma|undifferentiated carcinoma of thyroid|undifferentiated carcinoma of the thyroid gland|anaplastic carcinoma of thyroid gland|THAP|undifferentiated carcinoma of thyroid gland|metaplastic thyroid gland carcinoma|Dedifferentiated thyroid gland carcinoma|anaplastic carcinoma of the thyroid gland|anaplastic thyroid cancer|sarcomatoid thyroid gland carcinoma|thyroid carcinoma, anaplastic|thyroid gland undifferentiated carcinoma|undifferentiated thyroid gland carcinoma|anaplastic carcinoma of the thyroid MedDRA:10002240|Orphanet:142|UMLS:C0238461|EFO:1000595|ONCOTREE:THAP|GARD:0000664|MESH:D065646|SCTID:255031003|NCIT:C3878|HP:0011779|DOID:0080522|ICD10:C73 owl:Class UBERON:0010561 biolink:NamedThing pedal digit 5 metatarsal cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100055 biolink:NamedThing intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene. tmpte7i6ely_mondo_relaxed.owl intraosseous rhabdomyosarcoma defined by FUS-TFCP2 fusion|intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion NCIT:C178236 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002581 biolink:NamedThing spindle cell rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. tmpte7i6ely_mondo_relaxed.owl spindle cell rhabdomyosarcoma (morphologic abnormality)|SCRMS ICDO:8912/3|ONCOTREE:SCRMS|NCIT:C6519|DOID:3260|SCTID:404055006|ICD9:171.9|UMLS:C1266134 owl:Class UBERON:0000457 biolink:NamedThing cavernous artery tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:51721 biolink:NamedThing alpha,beta-unsaturated ketone A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position. tmpte7i6ely_mondo_relaxed.owl alpha,beta-unsaturated ketones owl:Class MONDO:0003453 biolink:NamedThing conjunctival intraepithelial neoplasm tmpte7i6ely_mondo_relaxed.owl conjunctival intraepithelial neoplasia|intraepithelial neoplasia of the conjunctiva|conjunctiva intraepithelial neoplasia|intraepithelial neoplasia of conjunctiva NCIT:C6120|DOID:5465|UMLS:C1333148|ICD9:239.89|SCTID:418134006 owl:Class MONDO:0020716 biolink:NamedThing familial thyroid dyshormonogenesis 1 tmpte7i6ely_mondo_relaxed.owl thyroid dyshormonogenesis type 1|thyroid dyshormonogenesis 1|TDH1|thyroid hormonogenesis, genetic defect in, 1|iodine accumulation, transport, or trapping defect|hypothyroidism, congenital, due to dyshormonogenesis, 1 OMIM:274400 owl:Class MONDO:0002505 biolink:NamedThing childhood astrocytic tumor An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. tmpte7i6ely_mondo_relaxed.owl astrocytic tumor|pediatric astrocytic tumor|pediatric astrocytic neoplasm|childhood astrocytic tumour|childhood astrocytic neoplasm|childhood astrocytic tumor|juvenile astrocytoma (morphologic abnormality)|astrocytic tumors, childhood|pediatric astrocytoma|juvenile astrocytoma|astrocytic tumor of childhood UMLS:C1321865|DOID:3079|NCIT:C9022 owl:Class HGNC:1228 biolink:NamedThing SERPING1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9453 biolink:NamedThing PRODH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030029 biolink:NamedThing skeletal dysplasia, mild, with joint laxity and advanced bone age tmpte7i6ely_mondo_relaxed.owl skeletal dysplasia, mild, with joint laxity and advanced bone age|SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE|SDJLABA OMIM:618870 owl:Class MONDO:0019312 biolink:NamedThing Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. tmpte7i6ely_mondo_relaxed.owl HPS|Hermansky Pudlak syndrome|HPS (Hermansky Pudlak syndrome) ICD10:E70.331|Orphanet:79430|ICD10:E70.3|NCIT:C37261|OMIM:614171|MESH:D022861|OMIM:614074|OMIM:614076|OMIM:203300|Orphanet:280663|OMIM:608233|OMIM:614073|SCTID:9311003|DOID:3753|OMIM:614072|Orphanet:231531|MedDRA:10071775|OMIMPS:203300|OMIM:614077|GARD:0006643|ICD9:270.2|OMIM:614075|Orphanet:231537 owl:Class UBERON:0001611 biolink:NamedThing sublingual artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001386 biolink:NamedThing visual epilepsy Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.' tmpte7i6ely_mondo_relaxed.owl epilepsy, visual SCTID:39194005|UMLS:C0270824|MESH:D012640|DOID:11832|NCIT:C3980 owl:Class MONDO:0020989 biolink:NamedThing hereditary persistence of fetal hemoglobin The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. tmpte7i6ely_mondo_relaxed.owl HPFH - Hereditary persistence of fetal hemoglobin|HEMOGLOBIN F DIS|Hemoglobin F Disease|Hb F disease|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN|Hereditary persistence of fetal hemoglobin|Hereditary Persistence of Fetal Hemoglobin|Disease, Hemoglobin F|hereditary persistence of fetal hemoglobin ICD9:282.7|NCIT:C129072|UMLS:C0019025|SCTID:191201002 owl:Class ENVO:00005748 biolink:NamedThing dry soil Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016978 biolink:NamedThing poorly differentiated thymic neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN202280|Orphanet:263339|SCTID:717921000|ICD10:C37 owl:Class UBERON:0003578 biolink:NamedThing pedal digit connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29450 biolink:NamedThing GLIS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016922 biolink:NamedThing partial duplication of chromosome 2 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 2|partial duplication of chromosome type 2 Orphanet:262196|SCTID:726340005 owl:Class OBO:CHR_9606-chr9q31.1-q31.3 biolink:NamedThing 9q31.1-q31.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class HGNC:2205 biolink:NamedThing CERT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017110 biolink:NamedThing isolated Dandy-Walker malformation with hydrocephalus tmpte7i6ely_mondo_relaxed.owl Orphanet:269212|ICD10:Q03.1 owl:Class MONDO:0009072 biolink:NamedThing Dandy-Walker syndrome Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. tmpte7i6ely_mondo_relaxed.owl Dandy-Walker syndrome or malformation (type of DW complex)|Dandy-Walker syndrome|atresia of foramina of Magendie and Luschka|DWS|Dandy-Walker variant (type of DW complex)|DW complex|Dandy-Walker malformation|mega cisterna magna (type of DW complex)|Dandy-Walker complex|isolated Dandy-Walker malformation DOID:2785|ICD10:Q03.1|OMIM:220200|GARD:0006242|UMLS:C0010964|Orphanet:217|MedDRA:10048411|MESH:D003616|EFO:1000890|SCTID:14447001|NCIT:C75012 owl:Class UBERON:0003418 biolink:NamedThing mesenchyme of submandibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006213 biolink:NamedThing floor of mouth mucoepidermoid carcinoma A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth. tmpte7i6ely_mondo_relaxed.owl mucoepidermoid carcinoma of floor of mouth|mucoepidermoid carcinoma of the floor of mouth|mouth floor mucoepidermoid carcinoma EFO:1000260|NCIT:C8178|UMLS:C0280310 owl:Class MONDO:0044964 biolink:NamedThing oral cavity mucoepidermoid carcinoma A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination. tmpte7i6ely_mondo_relaxed.owl oral cavity mucoepidermoid carcinoma|mucoepidermoid carcinoma of the oral cavity|mucoepidermoid carcinoma of oral cavity|oral cavity mucoepidermoid cancer UMLS:C0280309|NCIT:C8177 owl:Class MONDO:0016960 biolink:NamedThing partial trisomy of the long arm of chromosome 9 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 9q|partial duplication of chromosome 9q|partial trisomy of the long arm of chromosome type 9|partial duplication of the long arm of chromosome 9 Orphanet:262905 owl:Class MONDO:0009927 biolink:NamedThing 3MC syndrome 2 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. tmpte7i6ely_mondo_relaxed.owl 3MC syndrome caused by mutation in COLEC11|3MC syndrome type 2|3Mc syndrome type 2|Carnevale syndrome, formerly|Osa syndrome|Carnevale syndrome|3MC syndrome 2|ptosis of eyelids with diastasis recti and hip dysplasia|3MC2|oculo-skeletal-abdominal syndrome|COLEC11 3MC syndrome DOID:0060576|Orphanet:2998|Orphanet:293843|OMIM:265050|EFO:1001977|MESH:C535586 owl:Class MONDO:0019814 biolink:NamedThing straddling or overriding tricuspid valve Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. tmpte7i6ely_mondo_relaxed.owl Orphanet:95461|ICD10:Q22.8 owl:Class MONDO:0008093 biolink:NamedThing nevus, epidermal A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed. tmpte7i6ely_mondo_relaxed.owl Nevus, Keratinocytic, nonepidermolytic|Nevus, woolly hair|Epidermal Nevus|Nevus sebaceous|nevus, epidermal|nonepidermolytic keratinocytic nevus MESH:C580062|GARD:0013025|DOID:0111162|NCIT:C4088|Orphanet:79414|OMIM:162900 owl:Class HGNC:10994 biolink:NamedThing SLC26A2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4823 biolink:NamedThing HBA1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015144 biolink:NamedThing carbohydrate transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl carbohydrate transporter activity|sugar transporter owl:Class MONDO:0015271 biolink:NamedThing idiopathic camptocormia Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. tmpte7i6ely_mondo_relaxed.owl idiopathic camptocormism|bent spine|idiopathic progressive lumbar kyphosis|bent spine syndrome|camptocormia|camptocormism GARD:0001063|Orphanet:1320|SCTID:13534001|MESH:C537968|ICD10:M43.8|MedDRA:10069646 owl:Class MONDO:0002032 biolink:NamedThing colon carcinoma A carcinoma that arises from epithelial cells of the colon tmpte7i6ely_mondo_relaxed.owl colonic carcinoma|colon cancer|carcinoma of colon|colon carcinoma|carcinoma of the colon SCTID:269533000|UMLS:C0699790|EFO:1001950|DOID:1520|NCIT:C4910 owl:Class HGNC:336 biolink:NamedThing AGTR1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051495 biolink:NamedThing positive regulation of cytoskeleton organization Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpte7i6ely_mondo_relaxed.owl positive regulation of cytoskeleton organization and biogenesis|stimulation of cytoskeleton organization|up regulation of cytoskeleton organization|up-regulation of cytoskeleton organization|positive regulation of cytoskeleton organisation|activation of cytoskeleton organization|upregulation of cytoskeleton organization owl:Class GO:0034757 biolink:NamedThing negative regulation of iron ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl down regulation of iron ion transport|down-regulation of iron ion transport|inhibition of iron ion transport|downregulation of iron ion transport|negative regulation of iron transport owl:Class CL:0011022 biolink:NamedThing fibroblast of skin of back A fibroblast that is part of skin of back. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005257 biolink:NamedThing advanced heart failure Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients. tmpte7i6ely_mondo_relaxed.owl EFO:0003149|Wikipedia:New_York_Heart_Association_Functional_Classification owl:Class MONDO:0032629 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 25 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25|MC1DN25 OMIM:618246 owl:Class MONDO:0004146 biolink:NamedThing transitional meningioma A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns. tmpte7i6ely_mondo_relaxed.owl mixed meningioma|transitional (mixed) meningioma|transitional meningioma (morphologic abnormality) UMLS:C0334611|ICDO:9537/0|EFO:1000602|MESH:D008579|DOID:7213|NCIT:C4333 owl:Class MONDO:0001863 biolink:NamedThing aorta atresia An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. tmpte7i6ely_mondo_relaxed.owl congenital atresia and stenosis of aorta|atresia and stenosis of aorta DOID:14037|ICD9:747.22|SCTID:204431007|ICD10:Q25.2 owl:Class MONDO:0014803 biolink:NamedThing spasticity-ataxia-gait anomalies syndrome tmpte7i6ely_mondo_relaxed.owl childhood-onset spasticity with hyperglycinemia|SPAHGC|childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity, childhood-onset, with hyperglycinemia OMIM:616859|UMLS:C4225178|ICD10:E88.8|Orphanet:401866 owl:Class MONDO:0007454 biolink:NamedThing type 1 diabetes mellitus 2 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene. tmpte7i6ely_mondo_relaxed.owl IDDM2|INS type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 2|type 1 diabetes mellitus caused by mutation in INS|diabetes mellitus, insulin-dependent, 2|insulin-dependent diabetes mellitus 2 UMLS:C1852092|ICD10:E10|MESH:C565100|DOID:0110741|OMIM:125852 owl:Class MONDO:0003524 biolink:NamedThing gastric gastrin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome. tmpte7i6ely_mondo_relaxed.owl gastrin-producing neuroendocrine tumor of the stomach|gastrin-producing neuroendocrine tumor of stomach|gastric gastrinoma|stomach gastrin-producing neuroendocrine tumor|gastrin producing tumor of the stomach|gastrin producing neuroendocrine tumor of the stomach|gastric gastrin producing tumor|gastric G-cell gastrin producing tumor|gastric gastrin-producing NET|gastric gastrin-producing neuroendocrine tumor DOID:5579|NCIT:C27444|UMLS:C1333767 owl:Class MONDO:0033203 biolink:NamedThing nephrotic syndrome 14 tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 14|NPHS14|nephrotic syndrome 14|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency|familial steroid-resistant nephrotic syndrome with adrenal insufficiency Orphanet:506334|UMLS:CN339707|DOID:0080265|OMIM:617575 owl:Class MONDO:0054654 biolink:NamedThing combined oxidative phosphorylation deficiency 32 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 32|COXPD32 UMLS:C4540029|DOID:0111492|OMIM:617664 owl:Class MONDO:0003917 biolink:NamedThing heart lymphoma An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. tmpte7i6ely_mondo_relaxed.owl Primary heart lymphoma|heart lymphoma|Cardiac lymphoma|lymphoma of the heart|lymphoma of heart|PCL|primary Cardiac lymphoma NCIT:C5368|DOID:6547|UMLS:C1332850 owl:Class MONDO:0001895 biolink:NamedThing acute retrobulbar neuritis Acute form of retrobulbar neuritis. tmpte7i6ely_mondo_relaxed.owl retrobulbar neuritis, acute|retrobulbar neuritis (acute) UMLS:C0155301|ICD9:377.32|SCTID:51604006|DOID:14155 owl:Class MONDO:0022999 biolink:NamedThing distichiasis heart congenital anomalies tmpte7i6ely_mondo_relaxed.owl GARD:0001890 https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies owl:Class MONDO:0008901 biolink:NamedThing Tel Hashomer camptodactyly syndrome Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. tmpte7i6ely_mondo_relaxed.owl Tel Hashomer camptodactyly syndrome|camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases UMLS:C1859356|Orphanet:3292|MESH:C536953|OMIM:211960|SCTID:719946008|ICD10:Q74.0|GARD:0005128 https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome owl:Class MONDO:0020120 biolink:NamedThing skeletal muscle disorder A disease involving the skeletal muscle tissue. tmpte7i6ely_mondo_relaxed.owl disease or disorder of skeletal muscle tissue|skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|disease of skeletal muscle tissue|skeletal muscle tissue disease UMLS:C1533847|Orphanet:98472|SCTID:75047002|MedDRA:10028641 owl:Class MONDO:0015104 biolink:NamedThing porphyria cutanea tarda Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. tmpte7i6ely_mondo_relaxed.owl porphyria cutania tarda|PCT DOID:3132|GARD:0007433|UMLS:C0162566|OMIM:176100|Orphanet:101330|MedDRA:10036183|SCTID:61860000|OMIM:176090|ONCOTREE:PCT|ICD10:E80.1|MESH:D017119|NCIT:C27725 Editor notes: ORDO classifies as inherited but in fact many forms are inherited owl:Class MONDO:0019800 biolink:NamedThing chronic hepatic porphyria Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare). tmpte7i6ely_mondo_relaxed.owl acute hepatic porphyria, chronic|chronic acute hepatic porphyria ICD10:E80.2|Orphanet:95161 owl:Class MONDO:0001910 biolink:NamedThing ochronosis disorder A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. tmpte7i6ely_mondo_relaxed.owl ochronosis NCIT:C84938|ICD10:E70.29|UMLS:C0028817|ICD9:270.2|SCTID:410042009|GARD:0007231|MESH:D009794|DOID:14223|HP:0030764 owl:Class MONDO:0020048 biolink:NamedThing internal carotid agenesis Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. tmpte7i6ely_mondo_relaxed.owl agenesis of the internal carotid artery|internal carotid artery agenesis GARD:0003012|SCTID:722004001|ICD10:Q28.1|Orphanet:981 https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis owl:Class MONDO:0032846 biolink:NamedThing osteogenesis imperfecta, type 20 tmpte7i6ely_mondo_relaxed.owl OI20|OSTEOGENESIS IMPERFECTA, TYPE XX OMIM:618644 owl:Class MONDO:0014567 biolink:NamedThing glutamate pyruvate transaminase 2 deficiency tmpte7i6ely_mondo_relaxed.owl glutamate pyruvate transaminase 2 deficiency|postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|GPT2 deficiency|mental retardation, autosomal recessive type 49|mental retardation, autosomal recessive 49|MRT49 Orphanet:477673|OMIM:616281 owl:Class MONDO:0013082 biolink:NamedThing Hirschsprung disease-ganglioneuroblastoma syndrome A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease ganglioneuroblastoma|neuroblastoma with Hirschsprung disease UMLS:C2751683|MESH:C538119|ICD10:Q43.1|GARD:0002695|Orphanet:2151 owl:Class CHEBI:33241 biolink:NamedThing oxoacid derivative tmpte7i6ely_mondo_relaxed.owl oxoacid derivatives owl:Class MONDO:0006260 biolink:NamedThing kidney medullary carcinoma A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. tmpte7i6ely_mondo_relaxed.owl carcinoma of renal medulla|renal medullary carcinoma|renal medulla carcinoma|kidney medullary carcinoma MedDRA:10064886|NCIT:C7572|EFO:1000314|ICD10:C64|GARD:0013175|Orphanet:319319|UMLS:CN203938|ONCOTREE:MRC MONDO:0017888 owl:Class MONDO:0015270 biolink:NamedThing butyrylcholinesterase deficiency Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. tmpte7i6ely_mondo_relaxed.owl butyrylcholinesterase deficiency|cholinesterase 2 deficiency|hypocholinesterasemia, fluoride-resistant, Japanese type|Suxamethonium sensitivity|BCHED|pseudocholinesterase deficiency|pseudocholinesterase E1|succinylcholine sensitivity|Acholinesterasemia|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|apnea, postanesthetic ICD9:289.89|OMIM:617936|Orphanet:132|UMLS:C1283400|GARD:0007482|MESH:C537417|SCTID:191397007 owl:Class NCBITaxon:1239 biolink:NamedThing Firmicutes tmpte7i6ely_mondo_relaxed.owl Bacillota|low G+C Gram-positive bacteria|Low G+C firmicutes|Firmacutes|clostridial firmicutes|Bacillaeota|firmicutes|Clostridium group firmicutes|low GC Gram+|Bacillus/Clostridium group PMID:15143038|GC_ID:11|PMID:26654112|PMID:29458499|PMID:25403554|PMID:10555317|PMID:11034484|PMID:11542017 NCBITaxon:31968 ncbi_taxonomy owl:Class GO:1900130 biolink:NamedThing regulation of lipid binding Any process that modulates the frequency, rate or extent of lipid binding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010529 biolink:NamedThing X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. tmpte7i6ely_mondo_relaxed.owl X-linked ataxia-deafness syndrome|ataxia-deafness syndrome X-linked|Scax3|spinocerebellar ataxia X-linked type 3|ataxia-deafness syndrome, X-linked|SCAX3|spinocerebellar ataxia, X-linked type 3|spinocerebellar ataxia, X-linked 3 MESH:C537315|GARD:0009981|SCTID:719817002|ICD10:G11.1|OMIM:301790|Orphanet:85297|UMLS:C1844936 https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3 owl:Class MONDO:0003404 biolink:NamedThing adult yolk sac tumor A yolk sac tumor that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult endodermal sinus tumor|yolk sac tumor of adults|adult yolk Sac tumor|adult yolk Sac neoplasm|adult endodermal sinus neoplasm|yolk Sac tumor NCIT:C27241|UMLS:C1332221|DOID:5348 owl:Class MONDO:0005680 biolink:NamedThing Brill-Zinsser disease A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. tmpte7i6ely_mondo_relaxed.owl recrudescent typhus|Brill Zinsser disease|sporadic typhus|Brill disease|latent typhus|Brill's disease SCTID:47761007|DOID:11254|Orphanet:99990|EFO:0007182|ICD9:081.1|UMLS:C0006181|ICD10:A75.1 owl:Class MONDO:0010912 biolink:NamedThing fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene. tmpte7i6ely_mondo_relaxed.owl congenital fibrosis of extraocular muscles caused by mutation in TUBB3|Feom3 locus|CFEOM3A|TUBB3 congenital fibrosis of extraocular muscles|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement OMIM:600638|MESH:C567572|Orphanet:45358|UMLS:C2748801 owl:Class PATO:0000947 biolink:NamedThing elliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. tmpte7i6ely_mondo_relaxed.owl oval|ellipsoid|ellipse-shaped|ovoid|elliptical owl:Class MONDO:0012592 biolink:NamedThing osteogenesis imperfecta type 11 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta caused by mutation in FKBP10|OI11|osteogenesis imperfecta, type XI|FKBP10 osteogenesis imperfecta|OI type XI|osteogenesis imperfecta type XI|OI type 11|osteogenesis imperfecta, type 11|OI, type 11 Orphanet:216812|ICD10:Q78.0|OMIM:610968|Orphanet:666|GARD:0012875|Orphanet:216820|UMLS:C3151218|DOID:0110351 owl:Class MONDO:0019429 biolink:NamedThing X-linked neurodegenerative syndrome, Hamel type X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. tmpte7i6ely_mondo_relaxed.owl Orphanet:85336|UMLS:CN206187|SCTID:718847005|ICD10:G31.8 owl:Class HGNC:9350 biolink:NamedThing PRDM6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100482 biolink:NamedThing extensively drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid. tmpte7i6ely_mondo_relaxed.owl XDR-TB http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004398 biolink:NamedThing mediastinal schwannoma A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. tmpte7i6ely_mondo_relaxed.owl benign schwannoma of mediastinum|schwannoma of mediastinum|benign mediastinal schwannoma|schwannoma of the mediastinum|neurilemmoma of mediastinum|mediastinal schwannoma|mediastinum schwannoma|mediastinal neurilemmoma|neurilemmoma of the mediastinum|benign mediastinal neurilemmoma|benign neurilemmoma of the mediastinum|benign schwannoma of the mediastinum|benign neurilemmoma of mediastinum DOID:7922|NCIT:C6625|UMLS:C1334679|DOID:6175|NCIT:C6643 owl:Class GO:0042326 biolink:NamedThing negative regulation of phosphorylation Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. tmpte7i6ely_mondo_relaxed.owl downregulation of phosphorylation|down-regulation of phosphorylation|down regulation of phosphorylation|inhibition of phosphorylation owl:Class ECTO:0000537 biolink:NamedThing exposure to toxin An exposure to toxin. tmpte7i6ely_mondo_relaxed.owl exposure to toxin owl:Class UBERON:0009695 biolink:NamedThing epithelium of laryngopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015477 biolink:NamedThing pinnae fistula or cyst Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. tmpte7i6ely_mondo_relaxed.owl ICD10:Q18.8|Orphanet:155838 owl:Class MONDO:0002943 biolink:NamedThing external ear basal cell carcinoma A basal cell carcinoma that arises from the skin of the external ear. tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma of external ear|external Ear basal cell carcinoma|basal cell carcinoma of the external Ear|basal cell external ear carcinoma|skin basal cell carcinoma of external ear|basal cell carcinoma of the external ear|basal cell carcinoma of external Ear|external ear skin basal cell carcinoma UMLS:C1333491|NCIT:C6082|DOID:4287 owl:Class MONDO:0020454 biolink:NamedThing congenital complete agenesis of pericardium Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy. tmpte7i6ely_mondo_relaxed.owl Orphanet:99129|ICD10:Q24.8 owl:Class CL:1000681 biolink:NamedThing kidney cortex interstitial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001091 cell owl:Class MONDO:0009998 biolink:NamedThing Richieri Costa-Pereira syndrome Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|Richieri-Costa-Pereira syndrome|Richieri Costa-Pereira syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|Richieri Costa Pereira syndrome|ROBIN sequence with cleft mandible and limb anomalies GARD:0004718|OMIM:268305|UMLS:C1849348|ICD10:Q87.8|SCTID:723998001|MESH:C535677|Orphanet:3102 https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome owl:Class UBERON:0010376 biolink:NamedThing pancreas ventral primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019304 biolink:NamedThing sensory organ epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025130 biolink:NamedThing swine vesicular disease An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B. tmpte7i6ely_mondo_relaxed.owl swine vesicular diseases|vesicular diseases, swine|vesicular disease, swine MESH:D013555|UMLS:C0039010 owl:Class HGNC:9446 biolink:NamedThing PRLR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019267 biolink:NamedThing gray matter of midbrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004794 biolink:NamedThing esophagus secretion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008486 biolink:NamedThing steatocystoma multiplex-natal teeth syndrome The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. tmpte7i6ely_mondo_relaxed.owl STEATOCYSTOMA multiplex with NATAL teeth|Natal teeth and steatocystoma multiplex MESH:C537487|Orphanet:3184|OMIM:184510|GARD:0005004|UMLS:C1866650|ICD10:L72.2 owl:Class MONDO:0003297 biolink:NamedThing gallbladder leiomyoma A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl gallbladder leiomyoma|leiomyoma of gallbladder|leiomyoma of the gallbladder|gall bladder leiomyoma|leiomyoma of gall bladder DOID:5140|UMLS:C1333745|NCIT:C5747 owl:Class MONDO:0021503 biolink:NamedThing benign neoplasm of gallbladder A benign neoplasm that involves the gall bladder. tmpte7i6ely_mondo_relaxed.owl gallbladder benign neoplasm|benign neoplasm of the gallbladder|benign tumor of the gallbladder|benign gallbladder neoplasm|benign gallbladder tumor|gall bladder benign neoplasm|gallbladder benign tumor|benign tumor of gallbladder SCTID:92117002|UMLS:C0345912|NCIT:C4440|DOID:0080640 owl:Class MONDO:0019466 biolink:NamedThing lymphomatoid granulomatosis Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. tmpte7i6ely_mondo_relaxed.owl LYG MESH:D008230|NCIT:C7930|UMLS:C0024307|SCTID:239940004|ICDO:9766/1|Orphanet:86869|MedDRA:10025325|GARD:0006943|ONCOTREE:LYG|ICD10:C83.8 https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis owl:Class UBERON:0007473 biolink:NamedThing lumen of epithelial sac tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008552 biolink:NamedThing platelet-type bleeding disorder 16 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. tmpte7i6ely_mondo_relaxed.owl platelet-type bleeding disorder 16|Glanzmann thrombasthenia, autosomal dominant|BDPLT16|bleeding disorder, platelet-type, 16|autosomal dominant thrombasthenia of Glanzmann and Naegeli|autosomal dominant Glanzmann thrombasthenia|thrombasthenia of Glanzmann and Naegeli, autosomal dominant OMIM:187800|UMLS:C1861195|ICD10:D69.4|DOID:0060691|MESH:C566061|Orphanet:140957 owl:Class MONDO:0003084 biolink:NamedThing uremic neuropathy Neuropathy resulting from uremia. tmpte7i6ely_mondo_relaxed.owl ICD9:357.4|DOID:4675|UMLS:C0268708|SCTID:11659006|NCIT:C27055 owl:Class MONDO:0012742 biolink:NamedThing Brugada syndrome 3 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene. tmpte7i6ely_mondo_relaxed.owl CACNA1C Brugada syndrome|Brugada syndrome caused by mutation in CACNA1C|Brugada syndrome type 3|BRGDA3|Brugada syndrome 3 DOID:0110220|ICD10:I49.8|MESH:C567509|Orphanet:130|OMIM:611875|GARD:0010361|UMLS:C2678478 https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3 owl:Class CL:0002303 biolink:NamedThing pigmented ciliary epithelial cell A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells. tmpte7i6ely_mondo_relaxed.owl PE FMA:70606 tmeehan 2010-09-13T04:09:27Z cell owl:Class CL:0005012 biolink:NamedThing multi-ciliated epithelial cell A ciliated epithelial cell with many cilium. tmpte7i6ely_mondo_relaxed.owl multiciliated cell|multiciliated epithelial cell|multi-ciliated cell|MCC cell owl:Class UBERON:0010305 biolink:NamedThing subdivision of conjunctiva tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035935 biolink:NamedThing androgen secretion The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24595 biolink:NamedThing DYNC2LI1 tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000470 biolink:NamedThing increased amount An amount which is relatively high. tmpte7i6ely_mondo_relaxed.owl present in greater numbers in organism|increased|accessory|increased number|supernumerary owl:Class PATO:0000467 biolink:NamedThing present A quality inhering in a bearer by virtue of the bearer's existence. tmpte7i6ely_mondo_relaxed.owl present in organism owl:Class UBERON:0010685 biolink:NamedThing pedal digit phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006049 biolink:NamedThing papillary lung adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. tmpte7i6ely_mondo_relaxed.owl papillary adenocarcinoma of the lung|lung papillary-adenocarcinoma|papillary adenocarcinoma of lung|papillary lung adenocarcinoma|lung papillary adenocarcinoma EFO:1000046|DOID:5588|UMLS:C1335325|SCTID:707411007|NCIT:C5650|ICD9:162.9 owl:Class MONDO:0013221 biolink:NamedThing Miyoshi muscular dystrophy 2 tmpte7i6ely_mondo_relaxed.owl MIYOSHI muscular dystrophy 2|MMD2|Miyoshi myopathy 2|Miyoshi muscular dystrophy 2 MESH:C567646|DOID:0070200|OMIM:613318|Orphanet:45448|UMLS:C2750077 owl:Class MONDO:0009685 biolink:NamedThing Miyoshi myopathy A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. tmpte7i6ely_mondo_relaxed.owl Miyoshi muscular dystrophy 1|MM|Miyoshi muscular dystrophy type 1|muscular dystrophy, distal, late onset, autosomal recessive|MMD1|Miyoshi distal myopathy|Miyoshi muscular dystrophy OMIM:613319|OMIMPS:254130|GARD:0009676|ICD10:G71.0|OMIM:613318|Orphanet:45448|OMIM:254130|MESH:C537480|NCIT:C118846|DOID:0070198 owl:Class MONDO:0020128 biolink:NamedThing motor neuron disorder A disease involving the motor neuron. tmpte7i6ely_mondo_relaxed.owl disease of motor neuron|motor neuron disease or disorder|anterior horn cell disease|disorder of motor neuron|disease or disorder of motor neuron|motor neuron disease DOID:231|ICD10:G12.20|ICD9:335.9|ICD9:335.2|EFO:0003782|MESH:D016472|ICD10:G12.2|ICD9:335.8|Orphanet:98503|SCTID:37340000|MedDRA:10028003 owl:Class CHEBI:33356 biolink:NamedThing iron group element atom tmpte7i6ely_mondo_relaxed.owl iron group element|group 8 elements|iron group elements owl:Class UBERON:0010069 biolink:NamedThing outer epithelial layer of tympanic membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042962 biolink:NamedThing Slti-Salem syndrome tmpte7i6ely_mondo_relaxed.owl Slti Salem syndrome|hypogonadotropic hypogonadism alopecia|hypogonadism and frontoparietal alopecia UMLS:C2931284|MESH:C536673|GARD:0000324|MEDGEN:419036 owl:Class UBERON:5103631 biolink:NamedThing pedal digit 1 digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001415 biolink:NamedThing atrophy of testis Loss of testicular volume. tmpte7i6ely_mondo_relaxed.owl testicular atrophy DOID:11994|ICD9:608.3|SCTID:17585008|ICD10:N50.0|NCIT:C123259|UMLS:C0156312 owl:Class MONDO:0006897 biolink:NamedThing periapical granuloma Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. tmpte7i6ely_mondo_relaxed.owl periapical granuloma|apical granuloma SCTID:81407003|MESH:D010484|DOID:4617|UMLS:C0031029|MedDRA:10060985|EFO:1001096 owl:Class MONDO:0004508 biolink:NamedThing periapical periodontitis Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess. tmpte7i6ely_mondo_relaxed.owl apical periodontitis ICD10:K04.5|DOID:823|EFO:1001391|SCTID:39273001|UMLS:C0031030|MESH:D010485 owl:Class MONDO:0017476 biolink:NamedThing upper limb hypertrophy tmpte7i6ely_mondo_relaxed.owl Orphanet:295049|ICD10:Q74.0 owl:Class MONDO:0017431 biolink:NamedThing non-syndromic limb overgrowth tmpte7i6ely_mondo_relaxed.owl limb overgrowth Orphanet:294953 owl:Class MONDO:0045035 biolink:NamedThing opportunistic infectious A characteristic of an infectious disease in which the disease affects an immunologically compromised host. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100131 biolink:NamedThing pediatric acute respiratory distress syndrome Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded. tmpte7i6ely_mondo_relaxed.owl PARDS http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002476 biolink:NamedThing anuria Absence of urine output. tmpte7i6ely_mondo_relaxed.owl suppression of urinary secretion NCIT:C114699|DOID:2983|MESH:D001002|UMLS:C0003460 owl:Class MONDO:0044326 biolink:NamedThing developmental delay and seizures with or without movement abnormalities DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}). tmpte7i6ely_mondo_relaxed.owl DEDSM|developmental delay and seizures with or without movement abnormalities DOID:0080473|UMLS:CN769090|OMIM:617836 owl:Class MONDO:0003012 biolink:NamedThing sarcomatoid renal cell carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. tmpte7i6ely_mondo_relaxed.owl SRCC|sarcomatoid renal cell cancer|RCC w/ sarcomatoid features|sarcomatoid renal cell carcinoma|renal cell carcinoma, spindle cell|renal cell carcinoma with sarcomatoid features ONCOTREE:SRCC|UMLS:C1266043|DOID:4473|ICDO:8318/3|MESH:D002292|NCIT:C27893 owl:Class MONDO:0014445 biolink:NamedThing Bardet-Biedl syndrome 17 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in LZTFL1|Bardet-Biedl syndrome 17|LZTFL1 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 17|BBS17 UMLS:C3714980|ICD10:Q87.89|OMIM:615994|DOID:0110139 owl:Class NCBITaxon:11077 biolink:NamedThing Kunjin virus tmpte7i6ely_mondo_relaxed.owl West Nile virus - Kunjin GC_ID:1 ncbi_taxonomy owl:Class UBERON:0015875 biolink:NamedThing heel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005445 biolink:NamedThing segment of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003100 biolink:NamedThing nerve plexus neoplasm A neoplasm (disease) that involves the nerve plexus. tmpte7i6ely_mondo_relaxed.owl nerve plexus tumor|nerve plexus tumors|nerve plexus neoplasm|nerve plexus neoplasm (disease)|neoplasm of the nerve plexus|nerve plexus neoplasms|tumor of the nerve plexus|neoplasm of nerve plexus|neural plexus tumors|neural plexus neoplasms|tumor of nerve plexus DOID:4693|UMLS:C1334945|NCIT:C5822 owl:Class PATO:0000404 biolink:NamedThing coiled A shape quality inhering in a bearer by virtue of the bearer's being curled or wound (especially in concentric rings or spirals). tmpte7i6ely_mondo_relaxed.owl spiral|helical|helicoid|helicoidal|helix-shaped owl:Class UBERON:0008816 biolink:NamedThing embryonic head tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020743 biolink:NamedThing mixed phenotype acute leukemia An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. tmpte7i6ely_mondo_relaxed.owl MPAL|mixed phenotype acute leukemia MedDRA:10067399|ICD10:C95.0|Orphanet:530995|NCIT:C82179 owl:Class MONDO:0019460 biolink:NamedThing acute leukemia of ambiguous lineage An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl acute leukemia of ambiguous lineage|mixed phenotype acute leukemia|mixed lineage acute leukemia|BAL|biphenotypic acute leukemia|hybrid acute leukemia|acute leukemia of indeterminate lineage|ALL with myeloid markers|AML with lymphoid markers|acute leukemia of undetermined lineage SCTID:721308005|MedDRA:10067399|Orphanet:86851|ICD10:C95.0|NCIT:C7464|GARD:0008638|UMLS:C1301357|OMIM:601626|UMLS:C0023464|MESH:D015456 owl:Class GO:0045907 biolink:NamedThing positive regulation of vasoconstriction Any process that activates or increases the frequency, rate or extent of vasoconstriction. tmpte7i6ely_mondo_relaxed.owl activation of vasoconstriction|upregulation of vasoconstriction|up regulation of vasoconstriction|stimulation of vasoconstriction|up-regulation of vasoconstriction owl:Class UBERON:0003321 biolink:NamedThing mesenchyme of knee tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011222 biolink:NamedThing glaucoma 1, open angle, D tmpte7i6ely_mondo_relaxed.owl GLC1D|glaucoma, primary open angle, adult-onset|glaucoma 1, open angle, D MESH:C566551|UMLS:C1865427|OMIM:602429 owl:Class MONDO:0024643 biolink:NamedThing myocardial disorder A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl disorder of myocardium|disease of myocardium|myocardial disorder|myocardium disease or disorder|myocardium disease|myocardial disease|disorder of heart muscle|disease or disorder of myocardium SCTID:57809008|NCIT:C35544 owl:Class MONDO:0009045 biolink:NamedThing cataract-nephropathy-encephalopathy syndrome Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. tmpte7i6ely_mondo_relaxed.owl congenital cataracts, renal tubular necrosis and encephalopathy in two sisters|crome syndrome UMLS:C0795914|OMIM:218900|Orphanet:1380|ICD10:Q87.8|MESH:C536216|GARD:0001614|SCTID:722381004 owl:Class MONDO:0054844 biolink:NamedThing pontocerebellar hypoplasia, type 1D tmpte7i6ely_mondo_relaxed.owl PCH1D|pontocerebellar hypoplasia, type 1D UMLS:CN252648|OMIM:618065 owl:Class MONDO:0000671 biolink:NamedThing finger agnosia An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers tmpte7i6ely_mondo_relaxed.owl finger agnosia|manual digit agnosia|finger agnosia (disease) finger agnosia (disease) DOID:0060141|HP:0010525 It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50. owl:Class MONDO:0005676 biolink:NamedThing borna disease An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. tmpte7i6ely_mondo_relaxed.owl enzootic encephalomyelitis UMLS:C0006023|DOID:5154|EFO:0007178|MESH:D001890 owl:Class MONDO:0007316 biolink:NamedThing Chiari malformation type I Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. tmpte7i6ely_mondo_relaxed.owl Cm1|Chiari malformation type 1 with syringomyelia|Arnold-Chiari malformation type 1|Chiari malformation type I|Chiari malformation type 1|Arnold-Chiari malformation type I|Cm1 with syringomyelia MedDRA:10056944|SCTID:253185002|ICD10:G95.0|Orphanet:268882|OMIM:118420 owl:Class MONDO:0020208 biolink:NamedThing syndromic myopia A myopia (disease) that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with myopia (disease)|syndromic myopia (disease) Orphanet:98620|UMLS:CN227818 owl:Class UBERON:0010256 biolink:NamedThing 4th arch mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033954 biolink:NamedThing monoclonal mast cell activation syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:529468 owl:Class MONDO:0001306 biolink:NamedThing recurrent corneal erosion tmpte7i6ely_mondo_relaxed.owl recurrent erosion syndrome|recurrent erosion of cornea UMLS:C0155119|ICD9:371.42|ICD10:H18.83|HP:0000495|SCTID:2055003|DOID:11541 Editor note: consider obsoleting as is a finding owl:Class ECTO:0400000 biolink:NamedThing exposure to environmental layer A exposure event involving the interaction of an exposure receptor to layer. tmpte7i6ely_mondo_relaxed.owl layer exposure owl:Class HP:0001945 biolink:NamedThing Fever Body temperature elevated above the normal range. tmpte7i6ely_mondo_relaxed.owl Fever|Hyperthermia|Pyrexia SNOMEDCT_US:50177009|UMLS:C0015967|MSH:D005334|SNOMEDCT_US:386661006 Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. human_phenotype owl:Class HP:0004370 biolink:NamedThing Abnormality of temperature regulation An abnormality of temperature homeostasis. tmpte7i6ely_mondo_relaxed.owl Body temperature changes|Poor temperature regulation|Abnormality of temperature regulation UMLS:C0005904|UMLS:C1832160|MSH:D001832 peter 2008-03-18T06:34:00Z human_phenotype owl:Class MONDO:0043110 biolink:NamedThing jones hersh yusk syndrome tmpte7i6ely_mondo_relaxed.owl ptosis, ectropion, thin skin, beaked nose|aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|aplasia cutis cleft palate epidermolysis MESH:C535885|UMLS:C2931054|GARD:0003055 owl:Class MONDO:0017245 biolink:NamedThing intralobar congenital pulmonary sequestration tmpte7i6ely_mondo_relaxed.owl congenital intrapulmonary sequestration|intralobar congenital bronchopulmonary sequestration ICD10:Q33.2|Orphanet:280802 owl:Class MONDO:0019203 biolink:NamedThing acute interstitial pneumonia Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia. tmpte7i6ely_mondo_relaxed.owl Hamman-rich syndrome|idiopathic pulmonary fibrosis, acute fatal form|AIP|acute interstitial pneumonitis|Hamman-rich disease|accelerated interstitial pneumonia MedDRA:10066728|ICD9:516.33|OMIM:178500|UMLS:C1279945|GARD:0012835|DOID:2800|NCIT:C35806|ICD10:J84.1|ICD10:J84.114|SCTID:236302005|Orphanet:79126 owl:Class UBERON:0015029 biolink:NamedThing manual digit 5 phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018663 biolink:NamedThing regressive spondylometaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl regressive spondylometaphyseal dysplasia UMLS:CN248525|ICD10:Q77.8|OMIM:618019|Orphanet:448267 owl:Class MONDO:0042968 biolink:NamedThing partial duplication of chromosome 12 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004933 biolink:NamedThing submucosa of fundus of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000413 biolink:NamedThing haploid cell A cell whose nucleus contains a single haploid genome. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002420 biolink:NamedThing immature T cell A T cell that has not completed T cell selection. tmpte7i6ely_mondo_relaxed.owl immature T-cell CALOHA:TS-1042|BTO:0001372 tmeehan 2010-10-12T01:56:17Z cell owl:Class MONDO:0011362 biolink:NamedThing myopathy, myofibrillar, 9, with early respiratory failure tmpte7i6ely_mondo_relaxed.owl ADMERF|myopathy, proximal, with early respiratory muscle involvement|HMERF|Edstrom myopathy|myofibrillar myopathy with early respiratory failure|distal myopathy with early respiratory muscle involvement|HIBM-ERF|HMERF-ERF|Edström myopathy|myopathy, distal, with early respiratory failure, autosomal dominant|hereditary proximal myopathy with early respiratory failure|hereditary inclusion body myopathy with early respiratory failure MESH:C564377|OMIM:607569|Orphanet:34521|DOID:0111188|Orphanet:178464|UMLS:C1843633|MESH:C566343|GARD:0012591|UMLS:C4518808|SCTID:702373006|OMIM:603689|UMLS:C1863599|ICD10:G71.0|SCTID:733490006 https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure owl:Class UBERON:0018234 biolink:NamedThing stroma of pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03400306 biolink:NamedThing nut or seed product (us cfr) tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0306 http://langual.org owl:Class MONDO:0100035 biolink:NamedThing structural epilepsy Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 19:24:32+00:00 owl:Class MONDO:0019585 biolink:NamedThing scleromyxedema without monoclonal gammopathy Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. tmpte7i6ely_mondo_relaxed.owl Orphanet:90400|ICD10:L98.5 owl:Class HP:0002823 biolink:NamedThing Abnormality of femur morphology Any anomaly of the structure of the femur. tmpte7i6ely_mondo_relaxed.owl Abnormality of the femora|Abnormality of the thighbone UMLS:C4021750 The femur (plural: femora) is the thigh bone. HP:0001439 human_phenotype owl:Class HP:0040069 biolink:NamedThing Abnormal lower limb bone morphology tmpte7i6ely_mondo_relaxed.owl Abnormality of lower limb bone|Abnormal morphology of bones of the lower limbs|Abnormal shape of bones of the lower limbs UMLS:C4022457|UMLS:C4022455 HPO:skoehler HP:0040066 human_phenotype owl:Class GO:0060841 biolink:NamedThing venous blood vessel development The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003129 biolink:NamedThing epithelial predominant pulmonary blastoma A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma. tmpte7i6ely_mondo_relaxed.owl epithelial predominant pulmonary blastoma DOID:4768|NCIT:C36053|UMLS:C1333420 owl:Class HGNC:20474 biolink:NamedThing TMC8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017966 biolink:NamedThing 46,XY disorder of gonadal development tmpte7i6ely_mondo_relaxed.owl Orphanet:325118|UMLS:CN227229 owl:Class MONDO:0018832 biolink:NamedThing HTRA1-related autosomal dominant cerebral small vessel disease tmpte7i6ely_mondo_relaxed.owl HTRA1-related autosomal dominant cerebral angiopathy Orphanet:482077|UMLS:CN776823 owl:Class MONDO:0013392 biolink:NamedThing autosomal recessive spinocerebellar ataxia 10 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive type 10|SCAR10|ANO10 autosomal recessive cerebellar ataxia|adult-onset autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10|autosomal recessive spinocerebellar ataxia type 10|autosomal recessive cerebellar ataxia caused by mutation in ANO10 OMIM:613728|DOID:0050999|Orphanet:284289|UMLS:C3150998|ICD10:G11.2 owl:Class MONDO:0013954 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene. tmpte7i6ely_mondo_relaxed.owl MSMD due to complete IL12B deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|immunodeficiency 29|immunodeficiency type 29|IMD29|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IL12B deficiency|MSMD due to complete interleukin 12B deficiency OMIM:614890|UMLS:C4013948|ICD10:D84.8|Orphanet:319558 owl:Class MONDO:0044323 biolink:NamedThing Rahman syndrome Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}). tmpte7i6ely_mondo_relaxed.owl Rahman syndrome|RMNS UMLS:C4479637|OMIM:617537 owl:Class HGNC:7508 biolink:NamedThing MUC1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140375 biolink:NamedThing immune receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0038023 biolink:NamedThing signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpte7i6ely_mondo_relaxed.owl signalling receptor activity|receptor activity|receptor activity involved in signal transduction owl:Class HGNC:29433 biolink:NamedThing NEXMIF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008507 biolink:NamedThing surface polypeptides, anonymous tmpte7i6ely_mondo_relaxed.owl Spa5|Spa2|surface polypeptides, anonymous OMIM:185610 owl:Class MONDO:0018449 biolink:NamedThing acquired cystic disease-associated renal cell carcinoma Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. tmpte7i6ely_mondo_relaxed.owl Orphanet:404514|ICD10:C64|UMLS:CN226194 owl:Class GO:0019855 biolink:NamedThing calcium channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a calcium channel. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018124 biolink:NamedThing Oncogenic osteomalacia Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. tmpte7i6ely_mondo_relaxed.owl OOM|TIO|Oncogenic hypophosphatemic osteomalacia|tumor-induced osteomalacia|OO MESH:C537751|SCTID:392559009|GARD:0009652|NCIT:C67235|UMLS:C1274103|Orphanet:352540|ICD10:M83.8 https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia owl:Class MONDO:0001068 biolink:NamedThing osteomalacia A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 tmpte7i6ely_mondo_relaxed.owl osteomalacia (disease)|osteomalacia osteomalacia (disease) HP:0002749|ICD9:268.2|NCIT:C26838|DOID:10573|SCTID:4598005|MESH:D010018|EFO:1002027|GARD:0007285 owl:Class MONDO:0010552 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita MESH:C538077|UMLS:C1844864|OMIM:302803 owl:Class MONDO:0014608 biolink:NamedThing mandibulofacial dysostosis with alopecia A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. tmpte7i6ely_mondo_relaxed.owl MFDA|mandibulofacial dysostosis with alopecia DOID:0060365|OMIM:616367|UMLS:C4225349|Orphanet:443995|ICD10:Q75.4 owl:Class MONDO:0003570 biolink:NamedThing lipid-rich carcinoma A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. tmpte7i6ely_mondo_relaxed.owl lipid-rich carcinoma (morphologic abnormality)|lipid-rich carcinoma UMLS:C0334318|ICDO:8314/3|DOID:5658|NCIT:C4152 owl:Class NCBITaxon:5819 biolink:NamedThing Haemosporida tmpte7i6ely_mondo_relaxed.owl Haemospororida|Haemosporina|haemosporidians GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:422676 biolink:NamedThing Aconoidasida tmpte7i6ely_mondo_relaxed.owl Hematozoa Vivier 1982 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000975 biolink:NamedThing lipoma of spermatic cord A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions. tmpte7i6ely_mondo_relaxed.owl lipoma of spermatic cord|lipoma of the spermatic cord|spermatic cord lipoma ICD9:214.4|DOID:10206|UMLS:C0153972|NCIT:C3606|SCTID:93162007 owl:Class MONDO:0004462 biolink:NamedThing extrahepatic bile duct cystadenoma A mucinous cystic neoplasm that arises from the extrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl cystadenoma of extrahepatic bile duct|extrahepatic bile duct cystadenoma|cystadenoma of the extrahepatic bile duct|extrahepatic bile duct mucinous cystic neoplasm UMLS:C1333504|NCIT:C5851|DOID:8105 owl:Class MONDO:0005584 biolink:NamedThing congenital left-sided heart lesions Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth. tmpte7i6ely_mondo_relaxed.owl EFO:0005938|OMIM:241550|OMIM:614435 owl:Class HGNC:7876 biolink:NamedThing NOS3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021761 biolink:NamedThing acral dysostosis dyserythropoiesis syndrome An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet. tmpte7i6ely_mondo_relaxed.owl GARD:0000478 https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome owl:Class MONDO:0005497 biolink:NamedThing bone development disease A disease involving the bone development. tmpte7i6ely_mondo_relaxed.owl bone development disease or disorder|bone development disease|disease of bone development|disease or disorder of bone development|disorder of bone development DOID:0080006|SCTID:371521007|EFO:0005541 owl:Class UBERON:0004809 biolink:NamedThing salivary gland epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021472 biolink:NamedThing benign neoplasm of scrotum A benign neoplasm that involves the scrotum. tmpte7i6ely_mondo_relaxed.owl benign scrotal neoplasm|benign tumor of the scrotum|benign scrotal tumor|benign tumor of scrotum|scrotum benign neoplasm|benign neoplasm of the scrotum ICD9:222.4|ICD10:D29.4|UMLS:C0154011|SCTID:92336000|NCIT:C3615 owl:Class HP:0002683 biolink:NamedThing Abnormality of the calvaria Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. tmpte7i6ely_mondo_relaxed.owl Abnormality of the skull cap|Abnormality of calvarium|Abnormality of the skullcap|Abnormality of cranial vault|Abnormality of cranium UMLS:C4025691|UMLS:C4280561 The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. human_phenotype owl:Class MONDO:0021060 biolink:NamedThing RASopathy Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. tmpte7i6ely_mondo_relaxed.owl RASopathy|disorder of Ras protein signal transduction|Ras protein signal transduction disease EFO:1001502|Orphanet:536391 owl:Class MONDO:0032755 biolink:NamedThing neurodevelopmental disorder with or without variable brain abnormalities; NEDBA tmpte7i6ely_mondo_relaxed.owl NEDBA|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES OMIM:618443 owl:Class UBERON:0002338 biolink:NamedThing lamina propria of bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011883 biolink:NamedThing Curly hair - acral keratoderma - caries syndrome Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. tmpte7i6ely_mondo_relaxed.owl Curly hair - acral keratoderma - caries syndrome|CHACS|Chac syndrome|Chacs GARD:0010163|Orphanet:307766|OMIM:607656|ICD10:Q82.8|MESH:C536220 https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome owl:Class GO:0016825 biolink:NamedThing hydrolase activity, acting on acid phosphorus-nitrogen bonds Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0025337 biolink:NamedThing Red eye A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. tmpte7i6ely_mondo_relaxed.owl Red eye|Red eyes 2017-02-12 12:27:39+00:00 HPO:probinson human_phenotype owl:Class HGNC:10892 biolink:NamedThing SIX6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001530 biolink:NamedThing secondary hyperparathyroidism of renal origin tmpte7i6ely_mondo_relaxed.owl secondary hyperparathyroidism (of renal origin)|hyperparathyroidism due to renal insufficiency DOID:12465|ICD10:N25.81|SCTID:19034001|UMLS:C0271847|ICD9:588.81 owl:Class MONDO:0006964 biolink:NamedThing secondary hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. tmpte7i6ely_mondo_relaxed.owl secondary hyperparathyroidism|secondary hyperparathyroidism (disease)|secondary hyperparathyroidism NOS secondary hyperparathyroidism (disease) EFO:1001173|MedDRA:10020708|HP:0000867|SCTID:91478007|UMLS:C0020503|NCIT:C113335|MESH:D006962|DOID:12466 owl:Class GO:0006821 biolink:NamedThing chloride transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000298 biolink:NamedThing recombination_feature A feature where there has been exchange of genetic material in the event of mitosis or meiosis tmpte7i6ely_mondo_relaxed.owl recombination feature|INSDC_qualifier:other|INSDC_feature:misc_recomb owl:Class MONDO:0016505 biolink:NamedThing aldosterone-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. tmpte7i6ely_mondo_relaxed.owl Pure aldosterone-producing adrenocortical carcinoma|aldosterone-producing adrenal cortex adenoma|adrenocortical carcinoma with pure aldosterone hypersecretion|aldosterone producing adrenal cortex adenoma|APAC|Pure aldosterone-secreting adrenocortical carcinoma|Pure APAC|aldosterone producing adrenal cortical adenoma ICD10:E26.0|MedDRA:10056950|Orphanet:231625|UMLS:CN226945|NCIT:C48451|MESH:D018246|ICD10:C74.0|UMLS:C1706762|EFO:1000015 MONDO:0006023 owl:Class MONDO:0016739 biolink:NamedThing yolk sac tumor of central nervous system A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO) tmpte7i6ely_mondo_relaxed.owl intracranial yolk sac tumor|yolk sac tumor of CNS|yolk Sac tumor of CNS|intracranial endodermal sinus tumor|yolk Sac tumor of central nervous system|endodermal sinus tumor of CNS|yolk Sac tumor of the CNS|central nervous system yolk Sac tumor|yolk Sac tumor of the central nervous system|endodermal sinus tumor of central nervous system|CNS yolk Sac tumor UMLS:CN201987|Orphanet:252006|NCIT:C7011 owl:Class GO:0030148 biolink:NamedThing sphingolipid biosynthetic process The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpte7i6ely_mondo_relaxed.owl sphingolipid synthesis|sphingolipid biosynthesis|sphingolipid anabolism|sphingolipid formation owl:Class MONDO:0003412 biolink:NamedThing retroperitoneal hemangiopericytoma A benign or malignant hemangiopericytoma arising from the retroperitoneum. tmpte7i6ely_mondo_relaxed.owl retroperitoneal space hemangiopericytoma NCIT:C5386|DOID:5373|UMLS:C1335777 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class HGNC:24624 biolink:NamedThing SIL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008123 biolink:NamedThing autosomal dominant omodysplasia Autosomal dominant form of omodysplasia. tmpte7i6ely_mondo_relaxed.owl omodysplasia 2|OMOD2|omodysplasia, autosomal dominant Orphanet:2733|Orphanet:93328|ICD10:Q78.8|MESH:C567664|GARD:0003643|SCTID:725165009|OMIM:164745 owl:Class GO:0061370 biolink:NamedThing testosterone biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017859 biolink:NamedThing colchicine poisoning A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. tmpte7i6ely_mondo_relaxed.owl UMLS:CN203894|Orphanet:31824|ICD9:974.7|ICD10:T50.4|SCTID:24354007 owl:Class MONDO:0018278 biolink:NamedThing congenital muscular dystrophy with intellectual disability tmpte7i6ely_mondo_relaxed.owl CMD with intellectual disability|CMD-MR OMIM:606612|ICD10:G71.2|Orphanet:370968|OMIM:613155|OMIM:608840|OMIM:613156|OMIM:615351 owl:Class MONDO:0023263 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl GAPDH deficiency MESH:C536837|GARD:0002510|UMLS:C1291264|HGNC:4141 https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency owl:Class MONDO:0014804 biolink:NamedThing sideroblastic anemia 3 tmpte7i6ely_mondo_relaxed.owl GLRX5-related sideroblastic anemia|SIDBA3|anemia, sideroblastic, 3, pyridoxine-refractory|adult-onset autosomal recessive sideroblastic anemia Orphanet:255132|ICD10:D64.0|DOID:0080343|SCTID:720465002|OMIM:616860 owl:Class MONDO:0016801 biolink:NamedThing mitochondrial substrate carrier disorder tmpte7i6ely_mondo_relaxed.owl Orphanet:254830|UMLS:CN227002 owl:Class MONDO:0009350 biolink:NamedThing Holzgreve-Wagner-Rehder syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. tmpte7i6ely_mondo_relaxed.owl Holzgreve Wagner Rehder syndrome|Holzgreve syndrome|Complex congenital heart defect, renal agenesis and cleft lip and palate|cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome ICD10:Q87.8|GARD:0002728|OMIM:236110|MESH:C535327|DOID:0060566|UMLS:C1856095|Orphanet:2167 owl:Class MONDO:0043071 biolink:NamedThing Zazam Sheriff Phillips syndrome tmpte7i6ely_mondo_relaxed.owl aniridia, ectopia lentis, abnormal upper incisors and intellectual disability|aniridia, lens luxation, intellectual disability|aniridia, lens luxation, mental retardation|aniridia, ectopia lentis, abnormal upper incisors and mental retardation UMLS:C2931300|GARD:0000339|MESH:C536723 owl:Class MONDO:0013542 biolink:NamedThing Moyamoya disease 5 Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene. tmpte7i6ely_mondo_relaxed.owl MYMY5|Moyamoya disease type 5|Moyamoya disease caused by mutation in ACTA2|Moyamoya disease 5|ACTA2 Moyamoya disease OMIM:614042|Orphanet:2573|UMLS:C3279690 owl:Class MONDO:0019334 biolink:NamedThing autosomal recessive hyperinsulinism due to Kir6.2 deficiency tmpte7i6ely_mondo_relaxed.owl autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Orphanet:79644|UMLS:CN206003|OMIM:601820|ICD10:E16.1 owl:Class MONDO:0015625 biolink:NamedThing diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form Orphanet:165988|ICD10:E16.1 owl:Class GO:0051985 biolink:NamedThing negative regulation of chromosome segregation Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpte7i6ely_mondo_relaxed.owl inhibition of chromosome segregation|down-regulation of chromosome segregation|downregulation of chromosome segregation|down regulation of chromosome segregation owl:Class GO:0048635 biolink:NamedThing negative regulation of muscle organ development Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. tmpte7i6ely_mondo_relaxed.owl down-regulation of muscle development|inhibition of muscle development|downregulation of muscle development|down regulation of muscle development owl:Class CHEBI:24318 biolink:NamedThing glutamine family amino acid An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class. tmpte7i6ely_mondo_relaxed.owl glutamine family amino acids owl:Class MONDO:0011330 biolink:NamedThing spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 10|spinocerebellar ataxia 10|SCA10 ICD10:G11.2|MESH:C566874|UMLS:C4275023|SCTID:715754007|GARD:0010474|Orphanet:98761|OMIM:603516|DOID:0050960|UMLS:C1963674 owl:Class MONDO:0019794 biolink:NamedThing autosomal dominant cerebellar ataxia type IV tmpte7i6ely_mondo_relaxed.owl ADCAIV|ADCA4|autosomal dominant cerebellar ataxia type 4|autosomal dominant cerebellar ataxia type IV ICD10:G11.8|Orphanet:94149|UMLS:CN229225 owl:Class UBERON:0034898 biolink:NamedThing alveolar ridge of premaxilla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014062 biolink:NamedThing mitochondrial DNA deletion syndrome with progressive myopathy tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|mtDNA deletion syndrome with progressive myopathy|PEOA6|progressive external ophthalmoplegia, autosomal dominant 6|mtDNA deletion syndrome with limb-girdle weakness|mitochondrial DNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 UMLS:C3554599|OMIM:615156|Orphanet:352470|ICD10:G71.3|DOID:0111519 owl:Class UBERON:0035127 biolink:NamedThing suture of hard palate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003685 biolink:NamedThing cranial suture tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003644 biolink:NamedThing cavernous hemangioma of colon A cavernous hemangioma arising from the colon. tmpte7i6ely_mondo_relaxed.owl colonic cavernous angioma|cavernous hemangioma of colon|cavernous angioma of the colon|cavernous hemangioma of the colon|colonic cavernous hemangioma|colon cavernous hemangioma|cavernous angioma of colon|colon cavernous angioma NCIT:C5395|DOID:5775|UMLS:C1333086 owl:Class MONDO:0024479 biolink:NamedThing epithelial tumor of colon A epithelial neoplasm that involves the colon. tmpte7i6ely_mondo_relaxed.owl colon epithelial neoplasm owl:Class NCIT:C68749 biolink:NamedThing HER2/Neu Negative tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C165233 biolink:NamedThing Expression Negative tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8727 biolink:NamedThing PCM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017786 biolink:NamedThing 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. tmpte7i6ely_mondo_relaxed.owl trisomy 2q23.1|dup(2)(q23.1) SCTID:766816008|Orphanet:313947|ICD10:Q92.3|UMLS:CN203736 owl:Class MONDO:0021325 biolink:NamedThing malignant neoplasm of thoracic esophagus A cancer that involves the thoracic part of esophagus. tmpte7i6ely_mondo_relaxed.owl thoracic part of esophagus cancer|malignant thoracic part of esophagus neoplasm|malignant neoplasm of thoracic part of esophagus|cancer of thoracic part of esophagus|malignant neoplasm of the thoracic esophagus ICD9:150.1|UMLS:C0153411|SCTID:187723009|NCIT:C3532 owl:Class HGNC:21576 biolink:NamedThing NHLRC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003071 biolink:NamedThing eye primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014637 biolink:NamedThing DOCK2 deficiency tmpte7i6ely_mondo_relaxed.owl immunodeficiency 40|immunodeficiency type 40|IMD40 Orphanet:447737|GARD:0012653|UMLS:C4225328|ICD10:D81.8|OMIM:616433 https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency owl:Class MONDO:0030899 biolink:NamedThing oculocutaneous albinism type 8 tmpte7i6ely_mondo_relaxed.owl OCA8|oculocutaneous albinism, type 8 OMIM:619165|Orphanet:597733 owl:Class NCBITaxon:6936 biolink:NamedThing Argasidae tmpte7i6ely_mondo_relaxed.owl softbacked ticks|soft ticks GC_ID:1 ncbi_taxonomy owl:Class HGNC:19349 biolink:NamedThing KIF21A tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:16998 biolink:NamedThing D-phenylalanine The D-enantiomer of phenylalanine. tmpte7i6ely_mondo_relaxed.owl D-PHENYLALANINE|D-Phenylalanine|D-alpha-Amino-beta-phenylpropionic acid|phenylalanine D-form|(2R)-2-amino-3-phenylpropanoic acid|D-phenylalanine|DPN|D-Phe owl:Class CHEBI:28044 biolink:NamedThing phenylalanine An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group. tmpte7i6ely_mondo_relaxed.owl fenilalanina|DL-Phenylalanine|Phenylalanin|2-amino-3-phenylpropanoic acid|PHE|alpha-Amino-beta-phenylpropionic acid|Phenylalanine|phenylalanine|F owl:Class UBERON:0003665 biolink:NamedThing post-anal tail muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017345 biolink:NamedThing Epstein-Barr virus-associated mesenchymal tumor tmpte7i6ely_mondo_relaxed.owl EBV-associated mesenchymal tumor Orphanet:289656|UMLS:CN203006 owl:Class MONDO:0015608 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. tmpte7i6ely_mondo_relaxed.owl AML and myelodysplastic syndromes related to radiation UMLS:CN199981|Orphanet:164726 owl:Class MONDO:0032582 biolink:NamedThing nephrotic syndrome, type 19 tmpte7i6ely_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 19|NPHS19 DOID:0080394|OMIM:618178 owl:Class MONDO:0014835 biolink:NamedThing striatal degeneration, autosomal dominant 2 Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene. tmpte7i6ely_mondo_relaxed.owl striatal Degeneration, autosomal dominant type 2|ADSD2|striatal degeneration, autosomal dominant caused by mutation in PDE10A|PDE10A striatal degeneration, autosomal dominant|striatal degeneration, autosomal dominant 2; ADSD2|striatal Degeneration, autosomal dominant 2 OMIM:616922|UMLS:C4310791 owl:Class CL:0002333 biolink:NamedThing neural crest derived fat cell A fat cell derived from a neural crest cell. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-20T02:25:25Z cell owl:Class MONDO:0006215 biolink:NamedThing gallbladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the gall bladder. tmpte7i6ely_mondo_relaxed.owl gallbladder adenocarcinoma|adenocarcinoma of gallbladder|gall bladder adenocarcinoma|adenocarcinoma of the gallbladder DOID:3500|UMLS:C0279651|NCIT:C9166|EFO:1000262 owl:Class HP:0001433 biolink:NamedThing Hepatosplenomegaly Simultaneous enlargement of the liver and spleen. tmpte7i6ely_mondo_relaxed.owl Enlarged liver and spleen UMLS:C0019214|SNOMEDCT_US:36760000 peter 2008-02-20T10:51:00Z human_phenotype owl:Class MONDO:0007307 biolink:NamedThing Charcot-Marie-Tooth disease type 1B A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. tmpte7i6ely_mondo_relaxed.owl CMT1B|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B|hereditary motor and sensory neuropathy 1B|Charcot Marie Tooth disease type 1B|hereditary motor and sensory neuropathy IB|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|hereditary motor and sensory neuropathy 1|HMSN1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|HMSN IB|HMSN1|MPZ Charcot-Marie-Tooth disease type 1|HMSN 1B|CMT 1B|Charcot-Marie-Tooth neuropathy, type 1B|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B|Charcot-Marie-Tooth disease, demyelinating, type 1B|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|Charcot-Marie-Tooth neuropathy type 1B Orphanet:101082|NCIT:C118782|ICD10:G60.0|UMLS:C0270912|GARD:0001246|UMLS:C0007959|OMIM:118200|DOID:0110152 owl:Class MONDO:0012262 biolink:NamedThing fibrosis of extraocular muscles, congenital, 3c tmpte7i6ely_mondo_relaxed.owl Feom4 locus|CFEOM3C|fibrosis of extraocular muscles, congenital, 3C Orphanet:45358|UMLS:C2750404|OMIM:609384|MESH:C567666 owl:Class OBO:CHR_9606-chrXp22.13-p22.2 biolink:NamedThing Xp22.13-p22.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0012595 biolink:NamedThing leprosy, susceptibility to, 4 Any leprosy in which the cause of the disease is a mutation in the LTA gene. tmpte7i6ely_mondo_relaxed.owl leprosy caused by mutation in LTA|susceptibility to leprosy 4|leprosy, susceptibility to, type 4|LTA leprosy|LPRS4|leprosy, early-onset, susceptibility to|leprosy, susceptibility to, 4 Orphanet:548|OMIM:610988 owl:Class UBERON:0010537 biolink:NamedThing mesonephric nephron progenitor tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006088 biolink:NamedThing appendix adenoma A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. tmpte7i6ely_mondo_relaxed.owl vermiform appendix adenoma|appendix adenoma NCIT:C43550|UMLS:C1706829|EFO:1000089 owl:Class UBERON:0005704 biolink:NamedThing secondary palatal shelf mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002475 biolink:NamedThing lacrimal gland adenocarcinoma A carcinoma that arises from glandular epithelial cells of the lacrimal gland tmpte7i6ely_mondo_relaxed.owl lacrimal gland adenocarcinoma|adenocarcinoma of the lacrimal gland|adenocarcinoma of lacrimal gland UMLS:C0346341|NCIT:C4541|DOID:298|SCTID:254988008 owl:Class MONDO:0019418 biolink:NamedThing X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN206173|Orphanet:85319 owl:Class CL:0000402 biolink:NamedThing CNS interneuron tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0004961 biolink:NamedThing stage I endometrioid carcinoma Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix. tmpte7i6ely_mondo_relaxed.owl EFO:0000205 owl:Class MONDO:0005884 biolink:NamedThing opisthorchiasis Infection with flukes of the genus Opisthorchis. tmpte7i6ely_mondo_relaxed.owl infection by Opisthorchis|infection due to cat liver fluke|infection due to Opisthorchis (felineus)(viverrini) MESH:D009889|ICD9:121.0|DOID:13768|UMLS:C0029106|SCTID:1059007|ICD10:B66.0|EFO:0007404|GARD:0009746 https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis owl:Class MONDO:0011866 biolink:NamedThing pontocerebellar hypoplasia type 1A Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia, type 1A|PCH1A|Pch1|VRK1 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia with anterior horn cell disease UMLS:C1843504|DOID:0060265|OMIM:607596|Orphanet:2254 owl:Class HGNC:3762 biolink:NamedThing FLRT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005755 biolink:NamedThing equine infectious anemia Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions. tmpte7i6ely_mondo_relaxed.owl EFO:0007263|UMLS:C0014661|MESH:D004859 owl:Class MONDO:0010782 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 3 tmpte7i6ely_mondo_relaxed.owl myopathy, lactic acidosis, and sideroblastic anemia type 3|myopathy, lactic acidosis, and sideroblastic anemia 3|MLASA3 DOID:0111184|OMIM:500011|Orphanet:2598|UMLS:C4225415 owl:Class UBERON:0012139 biolink:NamedThing segment of autopod tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011596 biolink:NamedThing future lower lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030917 biolink:NamedThing intellectual disability, autosomal dominant 51 tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 51|MRD51|intellectual disability, autosomal dominant 51|mental retardation, autosomal dominant 51|autosomal dominant intellectual disability 51 DOID:0080232|OMIM:617788|UMLS:CN671931 owl:Class HGNC:16695 biolink:NamedThing BCAP31 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004880 biolink:NamedThing chordamesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20389 biolink:NamedThing RETN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019388 biolink:NamedThing pelvis syndrome PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. tmpte7i6ely_mondo_relaxed.owl Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|lumbar syndrome|urorectal septum malformation sequence|perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome UMLS:C4510867|Orphanet:83628|UMLS:CN206083|ICD10:Q87.8|SCTID:725138002 owl:Class MONDO:0014560 biolink:NamedThing amelogenesis imperfecta type 1F Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta, type IF|AMBN amelogenesis imperfecta|amelogenesis imperfecta, type 1F|amelogenesis imperfecta caused by mutation in AMBN|amelogenesis imperfecta, hypoplastic type 1F|AI1F|amelogenesis imperfecta type IF UMLS:C4225394|Orphanet:100031|DOID:0110065|ICD10:K00.5|OMIM:616270 owl:Class ECTO:9001757 biolink:NamedThing exposure to antibacterial drug An exposure to antibacterial drug. tmpte7i6ely_mondo_relaxed.owl exposure to antibacterial drug owl:Class MONDO:0020697 biolink:NamedThing lung epithelial-myoepithelial carcinoma A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative. tmpte7i6ely_mondo_relaxed.owl lung epithelial-myoepithelial carcinoma|lung epithelial-myoepithelial cancer NCIT:C45545 owl:Class MONDO:0003389 biolink:NamedThing epithelial-myoepithelial carcinoma A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm. tmpte7i6ely_mondo_relaxed.owl epithelial-myoepithelial carcinoma|EMYOCA DOID:5309|UMLS:C0334392|GARD:0006364|NCIT:C4199|ICDO:8562/3|ONCOTREE:EMYOCA owl:Class MONDO:0014477 biolink:NamedThing developmental and epileptic encephalopathy, 26 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in KCNB1|DEE26|EIEE26|KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 26|epileptic encephalopathy, early infantile, 26|early infantile epileptic encephalopathy 26 OMIM:616056|GARD:0012391|DOID:0080461|UMLS:C4015119 https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26 owl:Class CL:1000612 biolink:NamedThing kidney corpuscule cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001021 cell owl:Class CL:0002584 biolink:NamedThing renal cortical epithelial cell An epithelial cell of the kidney cortex. tmpte7i6ely_mondo_relaxed.owl KUPO:0001016 cell owl:Class MONDO:0033479 biolink:NamedThing spinocerebellar ataxia 44 tmpte7i6ely_mondo_relaxed.owl SCA44|spinocerebellar ataxia 44 UMLS:CN492437|DOID:0080286|OMIM:617691 owl:Class CHEBI:50630 biolink:NamedThing cyclooxygenase 1 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1. tmpte7i6ely_mondo_relaxed.owl PTGS1 inhibitor|COX-1 inhibitors|cyclooxygenase-1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitors|cyclo-oxygenase 1 inhibitor|COX-1 inhibitor|prostaglandin H2 synthase 1 inhibitors|cyclooxygenase 1 inhibitors|prostaglandin H2 synthase 1 inhibitor|cyclo-oxygenase 1 inhibitors|prostaglandin G/H synthase 1 inhibitors|cyclooxygenase-1 inhibitor|prostaglandin G/H synthase 1 inhibitor|prostaglandin-endoperoxide synthase 1 inhibitor|PTGS1 inhibitors owl:Class MONDO:0017027 biolink:NamedThing primary interstitial lung disease specific to adulthood tmpte7i6ely_mondo_relaxed.owl primary ILD specific to adulthood UMLS:CN202339|Orphanet:264740 owl:Class HGNC:11110 biolink:NamedThing ARID1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001135 biolink:NamedThing voyeurism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity. tmpte7i6ely_mondo_relaxed.owl NCIT:C94360|ICD10:F65.3|ICD9:302.82|MESH:D014843|DOID:10834|SCTID:63835008 owl:Class MONDO:0021488 biolink:NamedThing benign neoplasm of lacrimal gland A benign neoplasm that involves the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl benign lacrimal gland tumor|benign tumor of lacrimal gland|benign lacrimal gland neoplasm|benign tumor of the lacrimal gland|lacrimal gland benign neoplasm|benign neoplasm of the lacrimal gland SCTID:92169007|ICD9:224.2|UMLS:C0154024|NCIT:C3621 owl:Class HGNC:26575 biolink:NamedThing PRIMPOL tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000111 biolink:NamedThing snow mass A mass of snow. tmpte7i6ely_mondo_relaxed.owl accumulation of snow|snow accumulation owl:Class ENVO:01001691 biolink:NamedThing mass of compounded environmental materials An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051704 biolink:NamedThing multi-organism process A biological process which involves another organism of the same or different species. tmpte7i6ely_mondo_relaxed.owl physiological interaction with other organism|physiological interaction between organisms|interaction between organisms owl:Class MONDO:0017167 biolink:NamedThing malignant epithelial tumor of salivary glands tmpte7i6ely_mondo_relaxed.owl malignant epithelial tumor of the salivary glands ICD10:C07|ICD10:C08.1|ICD10:C08.8|UMLS:CN202591|ICD10:C08.0|Orphanet:276145 owl:Class MONDO:0009369 biolink:NamedThing non-immune hydrops fetalis Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. tmpte7i6ely_mondo_relaxed.owl hydrops fetalis, nonimmune|NIHF|non-immune fetal hydrops|non-immune HF|non-immune fetal edema|Hemoglobin H hydrops fetalis syndrome|hydrops fetalis, Alpha-thalassemia-related ICD9:778.0|ICD10:P83.2|ICD10:P56.9|Orphanet:1041|UMLS:C0455988|OMIM:236750|EFO:0009051|Orphanet:163596|Orphanet:363999|SCTID:276509008|NCIT:C111905 owl:Class MONDO:0015193 biolink:NamedThing hydrops fetalis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). tmpte7i6ely_mondo_relaxed.owl hydrops fetalis|HF|fetal hydrops|generalized fetal edema|hydrops fetalis nonimmune|idiopathic hydrops fetalis|hydrops fetalis (disease)|fetal edema|familial non-immune hydrops fetalis|fetal anasarca hydrops fetalis (disease) Orphanet:1041|HP:0001789|MedDRA:10020529|NCIT:C84767|OMIM:236750|GARD:0002301|SCTID:276508000|UMLS:C0020305|GARD:0002783|ICD10:P56.0|ICD10:P83.2|ICD10:P56.9 owl:Class NCBITaxon:31244 biolink:NamedThing Schistosomatoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6180 biolink:NamedThing Strigeidida tmpte7i6ely_mondo_relaxed.owl Strigeida GC_ID:1 ncbi_taxonomy owl:Class HP:0008056 biolink:NamedThing Aplasia/Hypoplasia affecting the eye tmpte7i6ely_mondo_relaxed.owl Absent/small eye|Absent/underdeveloped eye UMLS:C4024745 peter 2008-04-02T03:25:00Z human_phenotype owl:Class MONDO:0004659 biolink:NamedThing eye carcinoma in situ A carcinoma in situ involving a eye. tmpte7i6ely_mondo_relaxed.owl carcinoma in situ of eye|stage 0 eyeball of camera-type eye carcinoma|carcinoma in situ of eyeball of camera-type eye|stage 0 eye carcinoma|eyeball of camera-type eye carcinoma in situ|eye in situ carcinoma ICD9:234.0|ICD10:D09.2|DOID:8792|SCTID:92590009|UMLS:C0154094 owl:Class GO:0002827 biolink:NamedThing positive regulation of T-helper 1 type immune response Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. tmpte7i6ely_mondo_relaxed.owl up-regulation of T-helper 1 type immune response|upregulation of T-helper 1 type immune response|up regulation of T-helper 1 type immune response|stimulation of T-helper 1 type immune response|activation of T-helper 1 type immune response owl:Class MONDO:0013769 biolink:NamedThing atrioventricular septal defect 5 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene. tmpte7i6ely_mondo_relaxed.owl atrioventricular septal defect caused by mutation in GATA6|atrioventricular septal defect type 5|GATA6 atrioventricular septal defect|atrioventricular septal defect 5|AVSD5 Orphanet:98722|OMIM:614474|UMLS:C3280939 owl:Class HP:0004303 biolink:NamedThing Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. tmpte7i6ely_mondo_relaxed.owl Abnormal skeletal muscle fibre morphology|Abnormality of muscle fibers|Abnormality of muscle fibres|Abnormal skeletal muscle fiber morphology|Abnormal muscle fibre morphology UMLS:C4021663 Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. peter 2008-02-20T12:04:00Z HP:0011806|HP:0003706 human_phenotype owl:Class HP:0011805 biolink:NamedThing Abnormal skeletal muscle morphology A structural abnormality of a skeletal muscle. tmpte7i6ely_mondo_relaxed.owl Abnormal muscle morphology|Abnormally shaped muscle|Abnormality of muscle morphology|Issue with muscle structure UMLS:C4023181 peter 2012-04-25T02:00:34Z HP:0003735 human_phenotype owl:Class MONDO:0014853 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 70 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 70|autosomal dominant nonsyndromic deafness caused by mutation in MCM2|autosomal dominant nonsyndromic deafness type 70|MCM2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 70|DFNA70|deafness, autosomal dominant type 70|autosomal dominant deafness 70 OMIM:616968|UMLS:C4310775|DOID:0110592|ICD10:H90.3 owl:Class UBERON:0010295 biolink:NamedThing substantia propria of sclera tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018247 biolink:NamedThing cervical thymic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003972 biolink:NamedThing gastric body carcinoma A carcinoma that arises from epithelial cells of the body of stomach. tmpte7i6ely_mondo_relaxed.owl body of stomach carcinoma|carcinoma of the gastric body|gastric body carcinoma|cancer of the gastric body|cancer of the body of the stomach|carcinoma of the body of the stomach|cancer of gastric body|carcinoma of body of stomach|gastric body (stomach) cancer|gastric body cancer|cancer of body of stomach|carcinoma of gastric body NCIT:C8399|SCTID:254557000|DOID:6705|UMLS:C0345804 owl:Class MONDO:0014020 biolink:NamedThing hereditary spastic paraplegia 55 tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia 55|SPG55|spastic paraplegia 55, autosomal recessive|autosomal recessive spastic paraplegia type 55|hereditary spastic paraplegia type 55 UMLS:C3539506|UMLS:C4510214|OMIM:615035|SCTID:723825006|DOID:0110807|ICD10:G11.4|Orphanet:320375 owl:Class MONDO:0022457 biolink:NamedThing ankyloblepharon filiforme imperforate anus tmpte7i6ely_mondo_relaxed.owl GARD:0000697 https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus owl:Class GO:0098856 biolink:NamedThing intestinal lipid absorption Any process in which lipids are taken up from the contents of the intestine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009586 biolink:NamedThing mesangial sclerosis, diffuse renal, with ocular abnormalities tmpte7i6ely_mondo_relaxed.owl mesangial sclerosis, diffuse renal, with ocular abnormalities MESH:C565405|UMLS:C1855282|OMIM:249660 owl:Class UBERON:0002409 biolink:NamedThing pericardial fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005774 biolink:NamedThing glanders A condition resulting from infection by Burkholderia mallei, which mainly affects horses. tmpte7i6ely_mondo_relaxed.owl Burkholderia mallei caused disease or disorder|infection due to Pseudomonas mallei|Burkholderia mallei infection|Burkholderia mallei|Burkholderia mallei disease or disorder|Burkholderia mallei infectious disease|farcy pipes NCIT:C34638|SCTID:4639008|DOID:13444|ICD10:A24.0|UMLS:C0017589|ICD9:024|GARD:0009536|MESH:D005896|EFO:0007286 https://rarediseases.info.nih.gov/diseases/9536/glanders owl:Class MONDO:0011997 biolink:NamedThing Hermansky-Pudlak syndrome 2 A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. tmpte7i6ely_mondo_relaxed.owl Hermansky-Pudlak syndrome 2|Hermansky-Pudlak syndrome with neutropenia|HPS2|Platelet defects and oculocutaneous albinism|AP3B1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in AP3B1|HPS-2|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome type 2 GARD:0009435|OMIM:608233|DOID:0060540|Orphanet:183678|MESH:C537709|Orphanet:79430|ICD10:E70.3|UMLS:C1842362|NCIT:C150368 https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 owl:Class MONDO:0002588 biolink:NamedThing thymoma type A A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years. tmpte7i6ely_mondo_relaxed.owl thymoma, medullary|primary thymic epithelial neoplasm type A|spindle cell thymoma|medullary thymoma|primary thymic epithelial tumor type A|thymoma type A ICDO:8581/1|ICD10:C37|NCIT:C6454|UMLS:C1266091|Orphanet:263310|DOID:3279|ICD10:D15.0 owl:Class MONDO:0004435 biolink:NamedThing liver fibrosarcoma A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl liver fibrosarcoma (disease)|fibrosarcoma of the liver|hepatic fibrosarcoma|fibrosarcoma of liver|liver fibrosarcoma DOID:8022|UMLS:C1333966|NCIT:C5832 owl:Class CL:0002267 biolink:NamedThing type D cell of stomach A type D cell found in the stomach. tmpte7i6ely_mondo_relaxed.owl delta cell of stomach|stomach delta cell|stomach D-cell FMA:83410 tmeehan 2010-09-10T01:36:03Z cell owl:Class MONDO:0600025 biolink:NamedThing hydrosalpinx Fluid accumulation and dilatation of the fallopian tube due to tubal blockage. tmpte7i6ely_mondo_relaxed.owl fallopian tube obstruction|blocked fallopian tube NCIT:C142886 http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3249 owl:Class CL:0002625 biolink:NamedThing seminiferous tubule epithelial cell A cell of the seminiferous tubule epithelium. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-15T11:59:23Z cell owl:Class GO:0006555 biolink:NamedThing methionine metabolic process The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpte7i6ely_mondo_relaxed.owl methionine and threonine metabolic process|methionine metabolism|methionine and threonine metabolism owl:Class MONDO:0005490 biolink:NamedThing large artery stroke Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain. tmpte7i6ely_mondo_relaxed.owl EFO:0005524 Editor note: check this owl:Class MONDO:0009616 biolink:NamedThing microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl microcephalic primordial dwarfism Toriello type|microcephalic primordial dwarfism, Toriello type|microcephalic primordial dwarfism and cataracts SCTID:715482004|Orphanet:2643|GARD:0003602|ICD10:Q87.1|OMIM:251190|MESH:C537321|UMLS:C1855089 https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type owl:Class MONDO:0013022 biolink:NamedThing restless legs syndrome, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl RLS7|restless legs syndrome, susceptibility to, 7 OMIM:612853 owl:Class MONDO:0005391 biolink:NamedThing restless legs syndrome A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. tmpte7i6ely_mondo_relaxed.owl Willis-Ekbom disease|restless leg syndrome|WED|RLS|Wittmaack-Ekbom syndrome MESH:D012148|OMIM:610439|OMIM:102300|OMIM:610438|OMIM:615197|ICD9:333.99|OMIM:612853|OMIM:611242|UMLS:C0035258|EFO:0004270|ICD9:333.94|GARD:0011926|ICD10:G25.81|DOID:0050425|OMIMPS:102300|OMIM:611185|SCTID:32914008|NCIT:C84501 owl:Class MONDO:0017728 biolink:NamedThing Tay-Sachs disease, B1 variant tmpte7i6ely_mondo_relaxed.owl hexosaminidase A deficiency, B1 variant|GM2 gangliosidosis, B1 variant SCTID:238024005|Orphanet:309239|ICD10:E75.0 owl:Class MONDO:0018461 biolink:NamedThing Angelman syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl UMLS:CN237441|ICD10:Q93.5|Orphanet:411511 owl:Class MONDO:0018183 biolink:NamedThing staphylococcal necrotizing pneumonia Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. tmpte7i6ely_mondo_relaxed.owl ICD10:J15.2|Orphanet:36238|SCTID:763888005 owl:Class MONDO:0018136 biolink:NamedThing minimal pigment oculocutaneous albinism type 1 Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. tmpte7i6ely_mondo_relaxed.owl OCA1-MP|MP OCA type 1 SCTID:237919007|UMLS:CN204521|ICD9:270.2|Orphanet:352734|ICD10:E70.3 owl:Class MONDO:0018135 biolink:NamedThing oculocutaneous albinism type 1 Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). tmpte7i6ely_mondo_relaxed.owl OCA1|ATN|oculocutaneous albinism, tyrosinase negative|oculocutaneous albinism type 1 GARD:0004037|OMIM:203100|Orphanet:352731|ICD10:E70.3|OMIM:606952|UMLS:CN119529|SCTID:765146000 owl:Class HGNC:13733 biolink:NamedThing CDH23 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007476 biolink:NamedThing familial Dupuytren contracture Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). tmpte7i6ely_mondo_relaxed.owl plantar fibromas|Dupuytren contracture|plantar fibromatosis, familial|Dupuytren contracture 1 SCTID:274142002|Orphanet:79142|GARD:0012165|OMIM:126900|ICD10:M72.0 owl:Class HP:0001941 biolink:NamedThing Acidosis Abnormal acid accumulation or depletion of base. tmpte7i6ely_mondo_relaxed.owl MSH:D000138|UMLS:C0001122|SNOMEDCT_US:51387008 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. HP:0001940 human_phenotype owl:Class GO:0001909 biolink:NamedThing leukocyte mediated cytotoxicity The directed killing of a target cell by a leukocyte. tmpte7i6ely_mondo_relaxed.owl immune cell mediated cytotoxicity|immune cell mediated cell death|immune cell mediated cell killing|leucocyte mediated cytotoxicity owl:Class NCBITaxon:1762 biolink:NamedThing Mycobacteriaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:29497402|PMID:19244447|PMID:30186281 ncbi_taxonomy owl:Class ECTO:9000175 biolink:NamedThing exposure to metal cation An exposure to metal cation. tmpte7i6ely_mondo_relaxed.owl exposure to metal cation owl:Class MONDO:0024711 biolink:NamedThing malignant mixed epithelial stromal tumor of the kidney A mixed epithelial stromal tumor of the kidney with malignant stromal features. tmpte7i6ely_mondo_relaxed.owl malignant mixed epithelial stromal tumor of the kidney|malignant MEST|mixed epithelial stromal tumor of the kidney, malignant UMLS:C1334602|NCIT:C37265 owl:Class ECTO:4000026 biolink:NamedThing exposure to decreased pressure A exposure event involving the interaction of an exposure receptor to decreased pressure. tmpte7i6ely_mondo_relaxed.owl decreased pressure exposure owl:Class HGNC:11020 biolink:NamedThing SLC34A2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1786 biolink:NamedThing CDKN1C tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003660 biolink:NamedThing eyelid muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033362 biolink:NamedThing developmental and epileptic encephalopathy, 53 tmpte7i6ely_mondo_relaxed.owl DEE53|EIEE53|epileptic encephalopathy, early infantile, 53 Orphanet:1934|OMIM:617389|DOID:0080464|UMLS:C4479313 owl:Class GO:0048818 biolink:NamedThing positive regulation of hair follicle maturation Any process that activates or increases the frequency, rate or extent of hair follicle maturation. tmpte7i6ely_mondo_relaxed.owl stimulation of hair follicle maturation|activation of hair follicle maturation|up regulation of hair follicle maturation|up-regulation of hair follicle maturation|upregulation of hair follicle maturation owl:Class HGNC:8860 biolink:NamedThing PEX7 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006921 biolink:NamedThing cellular component disassembly involved in execution phase of apoptosis The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. tmpte7i6ely_mondo_relaxed.owl cellular component disassembly involved in apoptotic process|disassembly of cell structures|cellular component disassembly involved in apoptosis owl:Class GO:0022411 biolink:NamedThing cellular component disassembly A cellular process that results in the breakdown of a cellular component. tmpte7i6ely_mondo_relaxed.owl cell structure disassembly|cellular component disassembly at cellular level owl:Class MONDO:0021905 biolink:NamedThing apert-like polydactyly syndrome tmpte7i6ely_mondo_relaxed.owl apert like polydactyly syndrome GARD:0000746 https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome owl:Class MONDO:0020817 biolink:NamedThing miliaria vesiculosa tmpte7i6ely_mondo_relaxed.owl SCTID:201195008 owl:Class UBERON:0001585 biolink:NamedThing anterior vena cava tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11071 biolink:NamedThing Japanese encephalitis virus group tmpte7i6ely_mondo_relaxed.owl Japanese encephalitis viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11051 biolink:NamedThing Flavivirus tmpte7i6ely_mondo_relaxed.owl arboviruses group B GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018678 biolink:NamedThing polyclonal hyperviscosity syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:450322|ICD10:D89.0|UMLS:CN237743 owl:Class UBERON:0004014 biolink:NamedThing labium minora tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021164 biolink:NamedThing posthitis An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis. tmpte7i6ely_mondo_relaxed.owl inflammation of prepuce of penis|prepuce of penis inflammation SCTID:44318002|UMLS:C0235640 owl:Class NCBITaxon:9903 biolink:NamedThing Bos tmpte7i6ely_mondo_relaxed.owl oxen, cattle GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032871 biolink:NamedThing leukodystrophy, hypomyelinating, 19, transient infantile tmpte7i6ely_mondo_relaxed.owl HLD19|LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM:618688 owl:Class HP:0002140 biolink:NamedThing Ischemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. tmpte7i6ely_mondo_relaxed.owl Ischaemic stroke SNOMEDCT_US:422504002|UMLS:C0948008 human_phenotype owl:Class HP:0001297 biolink:NamedThing Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. tmpte7i6ely_mondo_relaxed.owl Cerebrovascular accidents|Cerebral vascular events|Stroke|Cerebrovascular accident SNOMEDCT_US:230690007|MSH:D020521|UMLS:C0038454 HP:0002452 human_phenotype owl:Class MONDO:0032800 biolink:NamedThing robinow syndrome, autosomal recessive 2 tmpte7i6ely_mondo_relaxed.owl ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2|RRS2 OMIM:618529 owl:Class CHEBI:35701 biolink:NamedThing ester A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter. tmpte7i6ely_mondo_relaxed.owl Ester|esters owl:Class MONDO:0011168 biolink:NamedThing type 1 diabetes mellitus 10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene. tmpte7i6ely_mondo_relaxed.owl IDDM10|diabetes mellitus, insulin-dependent, type 10|diabetes mellitus, insulin-dependent, 10|insulin-dependent diabetes mellitus 10|type 1 diabetes mellitus caused by mutation in IL2RA|IL2RA type 1 diabetes mellitus DOID:0110749|MESH:C566602|UMLS:C1866040|ICD10:E10|OMIM:601942 owl:Class MONDO:0011109 biolink:NamedThing multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. tmpte7i6ely_mondo_relaxed.owl multiple epiphyseal dysplasia with Robin phenotype|epiphyseal dysplasia, multiple, with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype UMLS:C1832112|ICD10:Q78.8|MESH:C563291|SCTID:768935003|OMIM:601560|Orphanet:166016 owl:Class MONDO:0013648 biolink:NamedThing familial progressive hyperpigmentation Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. tmpte7i6ely_mondo_relaxed.owl melanosis diffusa congenita|universal melanosis|FPH1|melanosis universalis hereditaria|hyperpigmentation, familial progressive, 1|Fph ICD10:L81.4|Orphanet:79146|SCTID:715630006|UMLS:C1840392|OMIM:145250|UMLS:CN205811|UMLS:C1835039|OMIM:614233 owl:Class MONDO:0007408 biolink:NamedThing cryptotia, familial tmpte7i6ely_mondo_relaxed.owl cryptotia, familial UMLS:C1852455|MESH:C565140|OMIM:123557 owl:Class MONDO:0004241 biolink:NamedThing Osgood-Schlatter disease Osteochondrosis of the growth plate near the tibial tuberosity. tmpte7i6ely_mondo_relaxed.owl aseptic necrosis of the tibial tubercle|osteochondritis of the tibial tubercle|Osgood-Schlatter disease|osteochondritis of tibial tubercle|Osgood-Schlatter's disease|juvenile osteochondrosis of tibial tubercle|Osteochondrosis of proximal tibia|Osteochondrosis of the tibial tubercle ICD10:M93.2|NCIT:C34874|Orphanet:97335|ICD9:736.89|MESH:D055034|SCTID:72047008|MedDRA:10031130|SCTID:430506003|DOID:7489 owl:Class MONDO:0002614 biolink:NamedThing bone inflammation disease Inflammation of the bone. tmpte7i6ely_mondo_relaxed.owl bone inflammatory disease|inflammatory disorder of bone|osteitis DOID:3342|SCTID:274144001|MESH:D010000|UMLS:C0029400 owl:Class MONDO:0011870 biolink:NamedThing annular epidermolytic ichthyosis Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. tmpte7i6ely_mondo_relaxed.owl ichthyosis, cyclic, with epidermolytic hyperkeratosis|Ciehk|AEI|epidermolytic ichthyosis, annular ICD10:Q80.3|Orphanet:281139|MESH:C564367|OMIM:607602|Orphanet:312|SCTID:718631006|UMLS:C1843463 owl:Class MONDO:0020702 biolink:NamedThing autosomal dominant epidermolytic ichthyosis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023692 biolink:NamedThing maple syrup urine disease type 1B A maple syrup urine disease caused by mutations in BCKDHB. tmpte7i6ely_mondo_relaxed.owl maple syrup urine disease type 1B|MSUD type 3 (formerly)|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex|MSUD type IB OMIM:248600|GARD:0008597 https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b owl:Class HGNC:3239 biolink:NamedThing EGR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022636 biolink:NamedThing candida glabrata infection tmpte7i6ely_mondo_relaxed.owl candida glabrata|Torulopsis glabrata (formerly) GARD:0008171 https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata owl:Class MONDO:0023679 biolink:NamedThing hematohidrosis Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting. tmpte7i6ely_mondo_relaxed.owl Hematidrosis|Hematohidrosis GARD:0013131|UMLS:C0473554|ICD10:L74.8|SCTID:238757003|ICD9:705.89 owl:Class UBERON:0005661 biolink:NamedThing 3rd arch ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009044 biolink:NamedThing lymphocyte of small intestine lamina propria A lymphocyte that resides in the lamina propria of the small intestine. Lamina propria leukocytes and intraepithelial lymphocytes are the effector compartments of the gut mucosal immune system. Lymphocytes circulate through gut associated lymphoid tissues until recruitment by intestinal antigens. They are involved in the gut immune response. tmpte7i6ely_mondo_relaxed.owl small intestine lamina propria lymphocyte|small intestine lamina propria leukocyte|small intestine lamina propria leukocyte (LPL)|lamina propria lymphocyte of small intestine|gastrointestinal tract small intestine (lamina propria) leukocyte|gastrointestinal tract (lamina propria) lymphocyte of small intestine owl:Class HGNC:7456 biolink:NamedThing MT-ND2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006506 biolink:NamedThing congenital nonspherocytic hemolytic anemia Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. tmpte7i6ely_mondo_relaxed.owl hereditary nonspherocytic hemolytic anemia|HNSHA OMIM:206400|UMLS:C0002882|SCTID:301317008|DOID:2861|ICD9:282.3|OMIM:206300|MESH:D000746|OMIM:613470|Orphanet:712|OMIM:300908|EFO:1000641 owl:Class UBERON:0005130 biolink:NamedThing metanephric loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004859 biolink:NamedThing eye gland tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000828 biolink:NamedThing thromboblast A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates. tmpte7i6ely_mondo_relaxed.owl Note that this is a non-mammalian cell type. cell owl:Class MONDO:0010205 biolink:NamedThing Wolman disease with hypolipoproteinemia and acanthocytosis tmpte7i6ely_mondo_relaxed.owl Wolman disease with hypolipoproteinemia and acanthocytosis UMLS:C1848436|OMIM:278100|MESH:C564736 owl:Class MONDO:0019148 biolink:NamedThing Wolman disease Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. tmpte7i6ely_mondo_relaxed.owl primary familial xanthomatosis with adrenal calcification|deficiency of cholesterol esterase and triacylglycerol lipase|Wolman disease|acid lipase deficiency|primary familial xanthomatosis|lysosomal acid lipase deficiency|Wolman's or triglyceride storage type III disease|Wolman xanthomatosis|acid esterase deficiency|Wolman's disease|familial visceral xanthomatosis|liposomal acid lipase deficiency, Wolman type|xanthomatosis, familial|familial xanthomatosis GARD:0007899|OMIM:278000|UMLS:C0043208|Orphanet:75233|DOID:14497|MESH:D015223|ICD10:E75.5|SCTID:238074007|MedDRA:10053687|UMLS:CN438428|SCTID:82500001|NCIT:C61271 owl:Class NCBITaxon:129726 biolink:NamedThing Pseudocowpox virus tmpte7i6ely_mondo_relaxed.owl Pseudocowpoxvirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10257 biolink:NamedThing Parapoxvirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0002005 biolink:NamedThing concavity Surface shape that refers to the inward or outward curvature of the surface. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001404 biolink:NamedThing nucleate quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014533 biolink:NamedThing developmental and epileptic encephalopathy, 28 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 28|early infantile epileptic encephalopathy caused by mutation in WWOX|DEE28|epileptic encephalopathy, early infantile, type 28|EIEE28|WWOX-related epileptic encephalopathy|WOREE syndrome|WWOX early infantile epileptic encephalopathy OMIM:616211|UMLS:C4015519|DOID:0080452 https://github.com/monarch-initiative/mondo/issues/3829 owl:Class MONDO:0006714 biolink:NamedThing coronary aneurysm Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease. tmpte7i6ely_mondo_relaxed.owl coronary artery aneurysm|arteriovenous aneurysm of coronary vessels|aneurysmal lesion of coronary artery|aneurysm of coronary vessels HP:0030882|SCTID:50570003|UMLS:C0010051|EFO:1000881|GARD:0006200|MedDRA:10002348|ICD10:I25.41|ICD10:I25.4|DOID:3362|ICD9:414.11|MESH:D003323 owl:Class UBERON:0001902 biolink:NamedThing epithelium of small intestine tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006349 biolink:NamedThing epigastric artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042705 biolink:NamedThing prostatic malacoplakia associated with prostatic abscess tmpte7i6ely_mondo_relaxed.owl prostatic malacoplakia with prostatic and seminal vesicle abscess MESH:C537244|UMLS:C2931457|GARD:0000149 owl:Class GO:0001960 biolink:NamedThing negative regulation of cytokine-mediated signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway. tmpte7i6ely_mondo_relaxed.owl negative regulation of cytokine and chemokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|down regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signalling pathway|inhibition of cytokine mediated signaling pathway owl:Class HGNC:218 biolink:NamedThing ADAMTS2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001679 biolink:NamedThing Abnormal aortic morphology An abnormality of the aorta. tmpte7i6ely_mondo_relaxed.owl Abnormality of the aorta|Abnormal aorta morphology UMLS:C4025756|Fyler:1453 HP:0030963 human_phenotype owl:Class HP:0011004 biolink:NamedThing Abnormal systemic arterial morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. tmpte7i6ely_mondo_relaxed.owl Abnormality of the systemic arterial tree|Abnormal systemic artery morphology|Arterial abnormalities|Systemic artery abnormality UMLS:C4021205|Fyler:2600|SNOMEDCT_US:234119001|UMLS:C0151489 peter 2011-02-16T08:46:49Z HP:0002620|HP:0005114 human_phenotype owl:Class MONDO:0002303 biolink:NamedThing central retinal vein occlusion Blockage of the central retinal vein. tmpte7i6ely_mondo_relaxed.owl retinal vein occlusion of central retinal vein|central retinal Venous occlusion|central retinal vein retinal vein occlusion Orphanet:411527|NCIT:C118859|DOID:2450|SCTID:68478007|UMLS:C0154841|ICD9:362.35|ICD10:H34.81 owl:Class MONDO:0020557 biolink:NamedThing pleuropulmonary blastoma type 3 A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl type III pleuropulmonary blastoma UMLS:CN207459|ICD10:C34.1|NCIT:C45628|ICD9:162.9|Orphanet:99935|ICD10:C34.2|ICD10:C34.9|ICD10:C34.3|ICD10:C34.8|SCTID:707673006 owl:Class HP:0000520 biolink:NamedThing Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical. tmpte7i6ely_mondo_relaxed.owl Ocular proptosis|Prominent eyes|Protrusio bulbi|Protruding eyes|Prominent globes|Exophthalmos|Bulging eye|Anterior bulging of the globe of eye|Anterior bulging of the globe|Eyeballs bulging out UMLS:C0015300|MSH:D005094|UMLS:C1848490|SNOMEDCT_US:18265008|UMLS:C1837760|UMLS:C1862425 Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. HP:0000645|HP:0007711|HP:0000536|HP:0007870|HP:0000644 human_phenotype owl:Class MONDO:0007176 biolink:NamedThing helicoid peripapillary chorioretinal degeneration Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. tmpte7i6ely_mondo_relaxed.owl helicoidal peripapillary chorioretinal Degeneration|SCRA|SVEINSSON chorioretinal atrophy|Sveinsson chorioretinal atrophy|peripapillary chorioretinal Degeneration, Icelandic type|atrophia areata ICD10:H31.2|SCTID:724384008|UMLS:C1862382|Orphanet:86813|DOID:0111228|OMIM:108985|MESH:C566236 owl:Class CHEBI:33484 biolink:NamedThing chalcogen oxoacid tmpte7i6ely_mondo_relaxed.owl chalcogen oxoacids|chalcogen oxoacid owl:Class MONDO:0006061 biolink:NamedThing cervical artery dissection A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery. tmpte7i6ely_mondo_relaxed.owl EFO:1000059 owl:Class MONDO:0011845 biolink:NamedThing migraine with or without aura, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 3|migraine with or without aura, susceptibility to, 3|MGR3 OMIM:607498 owl:Class MONDO:0000495 biolink:NamedThing oppositional defiant disorder A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors. tmpte7i6ely_mondo_relaxed.owl oppositional defiant disorder (disease)|oppositional defiant disorder oppositional defiant disorder (disease) MESH:D019958|SCTID:18941000|NCIT:C92565|HP:0010865|DOID:0050856|ICD9:313.81 owl:Class GO:1901653 biolink:NamedThing cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014793 biolink:NamedThing musculature of pectoral complex tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q11 biolink:NamedThing 20q11 (Human) tmpte7i6ely_mondo_relaxed.owl 39000000 28100000 hg38 owl:Class NCBITaxon:186817 biolink:NamedThing Bacillaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012083 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 28 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 28|autosomal dominant deafness 28|GRHL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in GRHL2|DFNA28|deafness, autosomal dominant type 28|autosomal dominant nonsyndromic deafness type 28|deafness, autosomal dominant 28 ICD10:H90.3|Orphanet:90635|DOID:0110557|OMIM:608641|MESH:C563890|UMLS:C1837640 owl:Class MONDO:0016458 biolink:NamedThing 8q12 microduplication syndrome The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. tmpte7i6ely_mondo_relaxed.owl dup(8)(q12)|trisomy 8q12|chromosome 8q12 microduplication syndrome SCTID:719684000|GARD:0012816|UMLS:CN201422|UMLS:C4304504|ICD10:Q92.3|Orphanet:228399 https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome owl:Class ENVO:01000637 biolink:NamedThing outer space Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. tmpte7i6ely_mondo_relaxed.owl space owl:Class GO:1903028 biolink:NamedThing positive regulation of opsonization Any process that activates or increases the frequency, rate or extent of opsonization. tmpte7i6ely_mondo_relaxed.owl upregulation of opsonization|up-regulation of opsonization|activation of opsonization|up regulation of opsonization owl:Class GO:1903027 biolink:NamedThing regulation of opsonization Any process that modulates the frequency, rate or extent of opsonization. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011452 biolink:NamedThing hypotrichosis 7 Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene. tmpte7i6ely_mondo_relaxed.owl Mari type alopecia universalis congenita|hypotrichosis caused by mutation in LIPH|woolly hair, autosomal recessive 2, with or without hypotrichosis|alopecia universalis congenita, Mari type|Wh/Ht|hypotrichosis type 7|hypotrichosis, localized, autosomal recessive 2|HYPT7|total hypotrichosis, Mari type|hypotrichosis, total, Mari type|hypotrichosis 7|LIPH hypotrichosis|total Mari type hypotrichosis,|hypotrichosis, autosomal recessive|Lah2 MESH:C536973|OMIM:604379|DOID:0110704|GARD:0008178|Orphanet:55654|Orphanet:170|EFO:0009163 owl:Class MONDO:0045050 biolink:NamedThing nuclear cataract A cataract (disease) that involves the lens nucleus. tmpte7i6ely_mondo_relaxed.owl lens nucleus cataract (disease)|cataract (disease) of lens nucleus HP:0100018|ICD9:366.04|SCTID:53889007 owl:Class MONDO:0001365 biolink:NamedThing necrosis of ear ossicle tmpte7i6ely_mondo_relaxed.owl partial loss or necrosis of ear ossicles ICD9:385.24|DOID:11783 Editor note: TODO consider cede to HPO owl:Class NCBITaxon:41665 biolink:NamedThing Neopterygii tmpte7i6ely_mondo_relaxed.owl Neopterygi GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186623 biolink:NamedThing Actinopteri tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:11623 biolink:NamedThing TCF12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019839 biolink:NamedThing panhypophysitis tmpte7i6ely_mondo_relaxed.owl Infundibulo-panhypophysitis ICD10:E23.6|Orphanet:95513 owl:Class HGNC:27288 biolink:NamedThing ACSF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020388 biolink:NamedThing double outlet right ventricle with non-committed subpulmonary ventricular septal defect tmpte7i6ely_mondo_relaxed.owl DORV with non-committed subpulmonary VSD ICD10:Q20.1|Orphanet:99046 owl:Class MONDO:0007442 biolink:NamedThing dentinogenesis imperfecta type 3 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). tmpte7i6ely_mondo_relaxed.owl dentinogenesis imperfecta type III|dentinogenesis imperfecta, Shields type III|dentinogenesis imperfecta Shields type 3|dentinogenesis imperfecta, Shields type 3|brandywine type dentinogenesis imperfecta|DGI-III ICD9:520.5|SCTID:234970006|ICD10:K00.5|MESH:C538216|GARD:0010144|OMIM:125500|Orphanet:166265 https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 owl:Class MONDO:0018849 biolink:NamedThing dentinogenesis imperfecta Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. tmpte7i6ely_mondo_relaxed.owl opalescent teeth without osteogenesis imperfecta|DGI without OI|DGI|non-syndromic dentinogenesis imperfecta|dentinogenesis imperfecta|dentinogenesis imperfecta without osteogenesis imperfecta|dentinogenesis imperfecta (disease)|non-syndromic DGI|DI|opalescent teeth without OI dentinogenesis imperfecta (disease) UMLS:C0011436|MedDRA:10054013|ICD9:520.5|OMIM:125490|DOID:4154|NCIT:C84667|GARD:0006258|MESH:D003811|ICD10:K00.5|HP:0000703|SCTID:196286005|Orphanet:49042|OMIM:125500 owl:Class MONDO:0024309 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2A A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 tmpte7i6ely_mondo_relaxed.owl acroosteolysis, Giaccai type|neuropathy, hereditary sensory, type 2A|neuropathy, hereditary sensory and autonomic, type IIA|acroosteolysis, neurogenic|neuropathy, congenital sensory|hereditary sensory and autonomic neuropathy type 2A|hereditary sensory and autonomic neuropathy type IIA|HSN 2A|neuropathy, hereditary sensory radicular, autosomal recessive|HSAN2A|neuropathy, progressive sensory, of children|Morvan disease|HSAN 2A OMIM:201300|Orphanet:970|DOID:0070155 Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125 owl:Class MONDO:0019941 biolink:NamedThing hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. tmpte7i6ely_mondo_relaxed.owl autosomal recessive sensory radicular neuropathy|hereditary sensory radicular neuropathy, recessive form|neurogenic acroosteolysis|HSAN2|hereditary sensory and autonomic neuropathy type II|Giaccai type acroosteolysis|hereditary sensory neuropathy type 2 ICD10:G60.8|OMIM:613115|DOID:0070161|OMIM:243000|SCTID:398148000|OMIM:201300|GARD:0003976|Orphanet:970|OMIM:614213|GARD:3976|PMID:21089229 owl:Class MONDO:0013222 biolink:NamedThing Miyoshi muscular dystrophy 3 tmpte7i6ely_mondo_relaxed.owl Miyoshi muscular dystrophy 3|distal anoctaminopathy|Miyoshi muscular dystrophy type 3|MMD3|Miyoshi myopathy 3 OMIM:613319|ICD10:G71.0|Orphanet:399096|DOID:0070201|UMLS:C2750076|MESH:C567645 owl:Class UBERON:0003122 biolink:NamedThing pharyngeal arch artery 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023101 biolink:NamedThing facio digito genital syndrome recessive form tmpte7i6ely_mondo_relaxed.owl GARD:0002226 https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form owl:Class MONDO:0016682 biolink:NamedThing giant cell glioblastoma A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) tmpte7i6ely_mondo_relaxed.owl Monstrocellular sarcoma [obs]|Monstrocellular sarcoma NCIT:C4325|DOID:3074|ICD10:C71.9|Orphanet:251579|UMLS:C0334588|UMLS:C0334593|ICDO:9441/3 owl:Class MONDO:0018182 biolink:NamedThing bullous impetigo Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus. tmpte7i6ely_mondo_relaxed.owl Orphanet:36237|ICD10:L01.0|MedDRA:10006563|UMLS:C0021100|SCTID:399183005|ICD10:L01.03 owl:Class MONDO:0014869 biolink:NamedThing hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome tmpte7i6ely_mondo_relaxed.owl HLASA|hydrops, lactic acidosis, and sideroblastic anemia UMLS:C4310761|Orphanet:528091|OMIM:617021 owl:Class HGNC:6278 biolink:NamedThing KCNK3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9509 biolink:NamedThing PSEN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032811 biolink:NamedThing night blindness, congenital stationary, type1i tmpte7i6ely_mondo_relaxed.owl CSNB1I|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I OMIM:618555 owl:Class MONDO:0100453 biolink:NamedThing GUCY2D-related recessive retinopathy A retinopathy caused by biallelic variants in the GUCY2D gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis type 1|amaurosis congenita of Leber 1|retinal blindness, congenital|GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|CRB|GUCY2D Leber congenital amaurosis|RCD2|amaurosis congenita of Leber I|Leber congenital amaurosis caused by mutation in GUCY2D|CORD6|amaurosis congenita of Leber, type 1|cone-rod dystrophy 6|cone-rod dystrophy caused by mutation in GUCY2D|recessive GUCY2D retinopathy|night blindness, congenital stationary, type 1I|LCA|LCA1|cone-rod dystrophy type 6|Leber congenital amaurosis 1 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004645 biolink:NamedThing cheek mucosa cancer A malignant neoplasm involving the buccal mucosa. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the buccal mucosa|malignant neoplasm of the buccal mucosa|malignant neoplasm of buccal mucosa|malignant neoplasm of cheek, inner aspect|buccal mucosa cancer|cancer of buccal mucosa|malignant buccal mucosa neoplasm|malignant tumor of buccal mucosa|malignant buccal mucosa tumor NCIT:C9320|ICD9:145.0|SCTID:363386008|UMLS:C0153373|ICD10:C06.0|DOID:8702 owl:Class MONDO:0008526 biolink:NamedThing talonavicular coalition tmpte7i6ely_mondo_relaxed.owl talonavicular coalition MESH:C536895|OMIM:186750|GARD:0010062 https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition owl:Class NCBITaxon:43987 biolink:NamedThing Geotrichum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34353 biolink:NamedThing Dipodascaceae tmpte7i6ely_mondo_relaxed.owl anamorphic Dipodascaceae GC_ID:1 NCBITaxon:118261 ncbi_taxonomy owl:Class MONDO:0016630 biolink:NamedThing isolated delta-storage pool disease Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery. tmpte7i6ely_mondo_relaxed.owl isolated dense-storage pool disease|isolated dense-SPD|isolated delta-SPD Orphanet:248340|ICD10:D69.1|UMLS:CN201837 owl:Class HGNC:28845 biolink:NamedThing MED25 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017838 biolink:NamedThing sclerosteosis Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. tmpte7i6ely_mondo_relaxed.owl cortical hyperostosis-syndactyly syndrome|cortical hyperostosis with syndactyly ICD10:M85.2|Orphanet:3152|OMIM:269500|OMIM:614305|UMLS:C0265301|OMIMPS:269500|NCIT:C131133|GARD:0004771|ICD9:756.59|SCTID:17568006|MESH:C537525|DOID:0060251 owl:Class MONDO:0015439 biolink:NamedThing ring chromosome 4 Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. tmpte7i6ely_mondo_relaxed.owl chromosome 4 ring|r(4) syndrome|Ring chromosome 4 syndrome|R4|rose cluster 4|Ring chromosome type 4|Ring 4|syndrome r(4) NCIT:C121983|SCTID:81678004|GARD:0001339|ICD10:Q93.2|Orphanet:1447|MESH:C537636 https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4 owl:Class MONDO:0020718 biolink:NamedThing congenital short bowel syndrome 1 tmpte7i6ely_mondo_relaxed.owl CSBS|congenital short bowel syndrome|congenital short bowel syndrome 1 UMLS:C0021847|Orphanet:2301|OMIM:615237 owl:Class MONDO:0011398 biolink:NamedThing dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. tmpte7i6ely_mondo_relaxed.owl DEB, pruriginosa|epidermolysis bullosa pruriginosa|dystrophic epidermolysis bullosa pruriginosa|pruriginous dystrophic epidermolysis bullosa|Deb, pruriginosa|DEB-Pr SCTID:403810008|OMIM:604129|Orphanet:89843|MESH:C563192|UMLS:C1275114|ICD10:Q81.2|ICD9:757.39 owl:Class NCBITaxon:53551 biolink:NamedThing Sabethes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:53549 biolink:NamedThing Sabethini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003965 biolink:NamedThing Capgras syndrome A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. tmpte7i6ely_mondo_relaxed.owl Capgras delusion theory DOID:6680|MESH:D002194|NCIT:C34446 owl:Class GO:0030594 biolink:NamedThing neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032839 biolink:NamedThing dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane. tmpte7i6ely_mondo_relaxed.owl dendritic cytoplasm owl:Class UBERON:0003501 biolink:NamedThing retina blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044915 biolink:NamedThing salivary duct carcinoma An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites. tmpte7i6ely_mondo_relaxed.owl high grade salivary duct carcinoma|carcinoma of the salivary duct|carcinoma of salivary duct|carcinoma of duct of salivary gland|salivary duct carcinoma|duct of salivary gland carcinoma UMLS:C1301194|ONCOTREE:SDCA|NCIT:C5904 owl:Class MONDO:0015365 biolink:NamedThing autosomal dominant hereditary sensory and autonomic neuropathy Autosomal dominant form of hereditary sensory and autonomic neuropathy. tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy, autosomal dominant ICD10:G60.8|Orphanet:140474|UMLS:CN228932 owl:Class MONDO:0002340 biolink:NamedThing tactile epilepsy tmpte7i6ely_mondo_relaxed.owl NCIT:C4687|UMLS:C0393724|SCTID:230449001|DOID:2550 owl:Class MONDO:0005433 biolink:NamedThing alcohol withdrawal tmpte7i6ely_mondo_relaxed.owl alcohol withdrawal syndrome SCTID:191480000|EFO:0004777|ICD9:291.81|UMLS:C0236663 owl:Class MONDO:0014949 biolink:NamedThing developmental and epileptic encephalopathy, 47 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene. tmpte7i6ely_mondo_relaxed.owl FGF12 early infantile epileptic encephalopathy|DEE47|EIEE47|epileptic encephalopathy, early infantile, 47; EIEE47|epileptic encephalopathy, early infantile, 47|early infantile epileptic encephalopathy caused by mutation in FGF12|epileptic encephalopathy, early infantile, type 47 DOID:0080425|UMLS:C4310685|OMIM:617166 owl:Class MONDO:0007922 biolink:NamedThing lymphedema-distichiasis syndrome Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. tmpte7i6ely_mondo_relaxed.owl lymphedema with distichiasis|lymphedema-distichiasis syndrome|hereditary lymphedema-distichiasis syndrome (subtype)|lymphedema-distichiasis syndrome with renal disease and diabetes mellitus UMLS:C0265345|GARD:0000333|SCTID:8634009|ICD10:Q82.0|OMIM:153400|Orphanet:33001|NCIT:C128191|MESH:C537710|DOID:0111509|ICD9:743.63 https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome owl:Class MONDO:0020162 biolink:NamedThing secondary ectropion tmpte7i6ely_mondo_relaxed.owl Orphanet:98571|ICD10:H02.1 owl:Class GO:0045759 biolink:NamedThing negative regulation of action potential Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpte7i6ely_mondo_relaxed.owl inhibition of action potential|downregulation of action potential|down-regulation of action potential|down regulation of action potential owl:Class HP:0001376 biolink:NamedThing Limitation of joint mobility A reduction in the freedom of movement of one or more joints. tmpte7i6ely_mondo_relaxed.owl Limited joint motion|Decreased mobility of joints|Limitation of joint mobility|Decreased joint mobility|Limited joint mobility UMLS:C1857108 HP:0003101 human_phenotype owl:Class HP:0011729 biolink:NamedThing Abnormality of joint mobility An abnormality in the range and ease of motion of joints across their normal range. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023216 peter 2012-04-18T07:09:28Z human_phenotype owl:Class MONDO:0011885 biolink:NamedThing tubulointerstitial nephritis and uveitis syndrome An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. tmpte7i6ely_mondo_relaxed.owl acute Tubulointerstitial nephritis|Dobrin syndrome|TINU syndrome|TUBULOINTERSTITIAL nephritis with uveitis|Tubulointerstitial nephritis and uveitis|acute tubulointerstitial nephritis and uveitis syndrome|TINU MedDRA:10069034|Orphanet:91500|NCIT:C123021|OMIM:607665|MedDRA:10069039|GARD:0009252|ICD10:N10|UMLS:C1843273 owl:Class MONDO:0009148 biolink:NamedThing Rosselli-Gulienetti syndrome A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene tmpte7i6ely_mondo_relaxed.owl Rosselli-Gulienetti syndrome OMIM:225000|MESH:C563117|Orphanet:90339|UMLS:C0796139 https://github.com/monarch-initiative/mondo/issues/432 owl:Class CL:0002400 biolink:NamedThing Fraction B/C precursor B cell A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-10-05T10:11:38Z cell owl:Class GO:0030343 biolink:NamedThing vitamin D3 25-hydroxylase activity Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O. tmpte7i6ely_mondo_relaxed.owl cholecalciferol 25-hydroxylase activity owl:Class GO:0070643 biolink:NamedThing vitamin D 25-hydroxylase activity Catalysis of the hydroxylation of C-25 of any form of vitamin D. tmpte7i6ely_mondo_relaxed.owl ergocalciferol 25-hydroxylase activity|cholecalciferol 25-hydroxylase activity|calciferol 25-hydroxylase activity|vitamin D2 25-hydroxylase activity owl:Class MONDO:0018472 biolink:NamedThing familial isolated trichomegaly Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. tmpte7i6ely_mondo_relaxed.owl SCTID:764523004|DOID:0111566|OMIM:190330|Orphanet:411788 owl:Class UBERON:0001956 biolink:NamedThing cartilage of bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019206 biolink:NamedThing sparse hair-short stature-skin anomalies syndrome Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. tmpte7i6ely_mondo_relaxed.owl UMLS:CN205797|Orphanet:79132 owl:Class UBERON:0003387 biolink:NamedThing smooth muscle of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:36596 biolink:NamedThing Prunus armeniaca tmpte7i6ely_mondo_relaxed.owl Armeniaca vulgaris|Armeniaca vulgaris var. glabra|apricot|Armeniaca vulgaris var. vulgaris GC_ID:1 NCBITaxon:262400 ncbi_taxonomy owl:Class MONDO:0030508 biolink:NamedThing spermatogenic failure 62 tmpte7i6ely_mondo_relaxed.owl SPGF62 OMIM:619673 owl:Class GO:0046660 biolink:NamedThing female sex differentiation The establishment of the sex of a female organism by physical differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007548 biolink:NamedThing sex differentiation The establishment of the sex of an organism by physical differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007061 biolink:NamedThing acylase, cobalt-activated tmpte7i6ely_mondo_relaxed.owl acylase, cobalt-activated 2022-05-01 OMIM:102590 Reason: out of scope. Term to consider: none owl:Class GO:0045864 biolink:NamedThing positive regulation of pteridine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpte7i6ely_mondo_relaxed.owl stimulation of pteridine metabolic process|up regulation of pteridine metabolic process|positive regulation of pteridine metabolism|upregulation of pteridine metabolic process|activation of pteridine metabolic process|up-regulation of pteridine metabolic process owl:Class MONDO:0010769 biolink:NamedThing hairy ears, Y-linked tmpte7i6ely_mondo_relaxed.owl hypertrichosis pinnae auris, Y-linked|hairy ears, Y-linked OMIM:425500|UMLS:C1839070|MESH:C564029 owl:Class MONDO:0018129 biolink:NamedThing autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. tmpte7i6ely_mondo_relaxed.owl autosomal recessive cerebellar ataxia due to GBA2 deficiency ICD10:G11.8|SCTID:763348005|UMLS:CN204507|Orphanet:352641 owl:Class MONDO:0018617 biolink:NamedThing baroreflex failure Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques. tmpte7i6ely_mondo_relaxed.owl GARD:0010664|UMLS:CN237655|ICD10:G90.4|Orphanet:443084 https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure owl:Class MONDO:0022580 biolink:NamedThing blepharo naso facial syndrome van Maldergem type A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. tmpte7i6ely_mondo_relaxed.owl GARD:0000902 https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type owl:Class MONDO:0022919 biolink:NamedThing cytokine receptor deficiency A disease that has its basis in the disruption of cytokine receptor activity. tmpte7i6ely_mondo_relaxed.owl cytokine receptor activity disease|disorder of cytokine receptor activity GARD:0009530 Editor note: todo, align https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency owl:Class MONDO:0014206 biolink:NamedThing severe early-onset pulmonary alveolar proteinosis due to MARS deficiency tmpte7i6ely_mondo_relaxed.owl infantile liver failure syndrome 2|PAP, Reunion island type|ILLD|pulmonary alveolar proteinosis, Reunion Island|infantile liver failure syndrome 2, formerly|interstitial lung and liver disease|pulmonary alveolar proteinosis, Reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement Orphanet:370088|OMIM:615486|ICD10:J84.0|Orphanet:440427|UMLS:C4225400 https://github.com/monarch-initiative/mondo/issues/2420 owl:Class MONDO:0019029 biolink:NamedThing segmental odontomaxillary dysplasia Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. tmpte7i6ely_mondo_relaxed.owl SOD ICD10:K00.4|Orphanet:67039|ICD9:524.89|SCTID:699756005 owl:Class GO:0005759 biolink:NamedThing mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. tmpte7i6ely_mondo_relaxed.owl mitochondrial lumen|mitochondrial stroma owl:Class ENVO:01000680 biolink:NamedThing polluted lake A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033542 biolink:NamedThing immunodeficiency 70 tmpte7i6ely_mondo_relaxed.owl IMMUNODEFICIENCY 70|IMD70 OMIM:618969 owl:Class UBERON:0014775 biolink:NamedThing prosomere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020695 biolink:NamedThing hypotonic cerebral palsy A type of cerebral palsy characterized by decreased muscle tone. tmpte7i6ely_mondo_relaxed.owl hypotonic cerebral palsy NCIT:C116906|SCTID:192958009 owl:Class MONDO:0006497 biolink:NamedThing cerebral palsy A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. tmpte7i6ely_mondo_relaxed.owl infantile cerebral palsy HP:0100021|ICD10:G80.9|ICD9:343.9|GARD:0010450|ICD9:343.8|SCTID:128188000|UMLS:C0007789|NCIT:C34460|ICD10:G80|CSP:0723-4729|EFO:1000632|MESH:D002547|DOID:1969 owl:Class CL:0002067 biolink:NamedThing type A enteroendocrine cell An enteroendocrine cell that produces glucagon. tmpte7i6ely_mondo_relaxed.owl FMA:62939 tmeehan 2010-09-10T10:48:54Z cell owl:Class MONDO:0011566 biolink:NamedThing abdominal obesity-metabolic syndrome quantitative trait locus 2 tmpte7i6ely_mondo_relaxed.owl Aoms2|abdominal obesity-metabolic syndrome quantitative trait locus type 2|abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 owl:Class MONDO:0007320 biolink:NamedThing chondrocalcinosis due to apatite crystal deposition tmpte7i6ely_mondo_relaxed.owl chondrocalcinosis due to apatite crystal deposition|familial apatite disease GARD:0010139|UMLS:C1861580|MESH:C535939|OMIM:118610 https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition owl:Class MONDO:0001314 biolink:NamedThing chondrocalcinosis An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. tmpte7i6ely_mondo_relaxed.owl pseudogout|calcium pyrophosphate deposition disease HP:0000934|OMIM:118610|NCIT:C34955|MESH:D002805|DOID:1156|OMIM:118600|Orphanet:1416|SCTID:239832006|ICD9:275.49|ICD9:712.1|OMIM:600668 owl:Class MONDO:0014873 biolink:NamedThing nevus comedonicus syndrome A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood. tmpte7i6ely_mondo_relaxed.owl Nevus comedonicus|NEVUS comedonicus|pilosebaceous nevoid disorder|acneiform Nevus|NC|comedo Nevus|acne Nevus UMLS:C0265987|ICD10:Q82.5|Orphanet:64754|OMIM:617025|GARD:0013073|SCTID:35962006|NCIT:C3946 owl:Class MONDO:0010131 biolink:NamedThing thyroid hormone resistance, generalized, autosomal recessive A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. tmpte7i6ely_mondo_relaxed.owl Refetoff syndrome|thyroid hormone receptor BETA|thyroid hormone Resistance|GRTH|thyroid hormone resistance, generalized, autosomal recessive|Gthr|thyroid hormone Resistance syndrome|THRB|thyroid hormone unresponsiveness OMIM:274300|NCIT:C85191|Orphanet:3221|GARD:0000301|HGNC:11799 owl:Class MONDO:0019734 biolink:NamedThing juvenile polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. tmpte7i6ely_mondo_relaxed.owl JPM|juvenile PM SCTID:738526005|UMLS:C3826988|NCIT:C114358|EFO:1001988|GARD:0012742|ICD10:M33.2|Orphanet:93568 https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis owl:Class MONDO:0003471 biolink:NamedThing Pediculus humanus capitis infestation A infectious disease involving Pediculus humanus capitis. tmpte7i6ely_mondo_relaxed.owl head louse infestation|infections, Pediculus humanus capitis|Pediculus capitis infestation|Pediculus capitis [head louse]|Pediculus humanus capitis infection|pediculosis capitis|Pediculus capitis ICD9:132.0|UMLS:C0030757|ICD10:B85.0|SCTID:81000006|DOID:5501 owl:Class GO:0070561 biolink:NamedThing vitamin D receptor signaling pathway The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands. tmpte7i6ely_mondo_relaxed.owl calcitriol signaling pathway|vitamin D receptor signalling pathway|VDR signaling pathway owl:Class GO:0030522 biolink:NamedThing intracellular receptor signaling pathway Any series of molecular signals initiated by a ligand binding to an receptor located within a cell. tmpte7i6ely_mondo_relaxed.owl intracellular receptor-mediated signalling pathway|intracellular receptor mediated signaling pathway|intracellular receptor-mediated signaling pathway owl:Class MONDO:0019957 biolink:NamedThing PPoma PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1). tmpte7i6ely_mondo_relaxed.owl pancreatic polypeptidoma|pancreatic polypeptide tumor|pancreatic polypeptide neoplasm ICD9:239.89|SCTID:255039001|ICDO:8152/1|NCIT:C67453|ICD10:E16.8|UMLS:C1882278|UMLS:C0346407|UMLS:CN206879|Orphanet:97278 owl:Class UBERON:0003389 biolink:NamedThing mesothelium of diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6717 biolink:NamedThing LTBP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006595 biolink:NamedThing perinatal jaundice due to hepatocellular damage Jaundice in perinates due to cellular damange of liver. tmpte7i6ely_mondo_relaxed.owl UMLS:C0158976|EFO:1000750|SCTID:10877007|ICD9:774.4|DOID:11452 owl:Class UBERON:0003359 biolink:NamedThing epithelium of submandibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0033353 biolink:NamedThing Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). tmpte7i6ely_mondo_relaxed.owl 2020-12-01 11:42:14+00:00 peter human_phenotype owl:Class MONDO:0032780 biolink:NamedThing hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities tmpte7i6ely_mondo_relaxed.owl HIDEA|HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES OMIM:618493 owl:Class UBERON:0013727 biolink:NamedThing notochordal fluid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020628 biolink:NamedThing microcephaly, growth restriction, and increased sister chromatid exchange 2 tmpte7i6ely_mondo_relaxed.owl microcephaly, growth restriction, and increased sister chromatid exchange 2|MGRISCE2 Orphanet:508512|OMIM:618097 owl:Class MONDO:0017788 biolink:NamedThing contractures - webbed neck - micrognathia - hypoplastic nipples syndrome tmpte7i6ely_mondo_relaxed.owl Dinno syndrome UMLS:CN203738|Orphanet:314002 owl:Class HGNC:17057 biolink:NamedThing CARD8 tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:0000007 biolink:NamedThing action specification A directive information entity that describes an action the bearer will take.|a directive information entity that describes an action the bearer will take tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:0000033 biolink:NamedThing directive information entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019359 biolink:NamedThing nicotinamide nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. tmpte7i6ely_mondo_relaxed.owl nicotinamide nucleotide biosynthesis|nicotinamide nucleotide synthesis|nicotinamide nucleotide formation|nicotinamide nucleotide anabolism owl:Class GO:0046496 biolink:NamedThing nicotinamide nucleotide metabolic process The chemical reactions and pathways involving nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. tmpte7i6ely_mondo_relaxed.owl nicotinamide nucleotide metabolism owl:Class CHEBI:38338 biolink:NamedThing aminopyrimidine A member of the class of pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives. tmpte7i6ely_mondo_relaxed.owl aminopyrimidines owl:Class CHEBI:33860 biolink:NamedThing aromatic amine An amino compound in which the amino group is linked directly to an aromatic system. tmpte7i6ely_mondo_relaxed.owl arylamine|aromatic amines|arylamines|aryl amines|aryl amine owl:Class MONDO:0018801 biolink:NamedThing congenital bilateral absence of vas deferens Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility. tmpte7i6ely_mondo_relaxed.owl congenital bilateral aplasia of vas deferens|congenital bilateral agenesis of vas deferens OMIM:300985|MedDRA:10010670|Orphanet:48|GARD:0005461|OMIM:277180|ICD9:752.89|ICD10:Q55.4|OMIMPS:277180|SCTID:275416002 owl:Class MONDO:0001149 biolink:NamedThing microcephaly A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. tmpte7i6ely_mondo_relaxed.owl microcephalus|microcephaly (disease)|microencephaly|microcephaly microcephaly (disease) HP:0000252|OMIM:604804|NCIT:C85874|OMIM:604321|SCTID:1829003|ICD9:742.1|DOID:10907|OMIM:608716|OMIM:251200|OMIM:612703|OMIM:608393|ICD10:Q02|GARD:0003603 owl:Class HGNC:5173 biolink:NamedThing HRAS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010037 biolink:NamedThing sodium-potassium-ATPase activity of red cell tmpte7i6ely_mondo_relaxed.owl sodium-potassium-ATPase activity of red cell|sodium pump sites, number of OMIM:270425 owl:Class UBERON:0010312 biolink:NamedThing immature eye tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011740 biolink:NamedThing Carney-Stratakis syndrome Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. tmpte7i6ely_mondo_relaxed.owl Carney dyad|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|paraganglioma and gist|gist-paraganglioma dyad|Carney-Stratakis syndrome|Carney-Stratakis dyad|paraganglioma and gastric stromal sarcoma|paraganglioma and gastrointestinal stromal tumor ICD10:D44.8|DOID:0080533|OMIM:606864|Orphanet:97286|UMLS:C1847319|NCIT:C94831|SCTID:722377004|MESH:C564650|GARD:0010643 owl:Class MONDO:0023557 biolink:NamedThing infective vaginitis An infectious process affecting the vagina. Symptoms include pain and purulent discharge. tmpte7i6ely_mondo_relaxed.owl PV - Vaginal infection|vaginal infection|Vaginal Infection|Vaginal infection|Infective vaginitis SCTID:237091009|NCIT:C84353|UMLS:C0404521 owl:Class MONDO:0024283 biolink:NamedThing Demodex folliculitis A demodicidosis that involves the hair follicle. tmpte7i6ely_mondo_relaxed.owl hair follicle demodicidosis SCTID:240894003|UMLS:C0392666|ICD9:704.8|ICD9:133.8 owl:Class NCBITaxon:39744 biolink:NamedThing Rubulavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005792 biolink:NamedThing nephric ridge tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010883 biolink:NamedThing pectus excavatum-macrocephaly-dysplastic nails syndrome Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|pectus excavatum, macrocephaly and dysplastic nails|Zori-Stalker-Williams syndrome|Zori Stalker Williams syndrome|pectus excavatum, macrocephaly, short stature, and dysplastic nails MESH:C536728|GARD:0000374|UMLS:C2931302|OMIM:600399|SCTID:763863002|Orphanet:2835 owl:Class MONDO:0001978 biolink:NamedThing regional ureteric cancer Carcinoma of the ureter without spread to any other region. tmpte7i6ely_mondo_relaxed.owl regional malignant ureteral tumor|regional ureteric carcinoma|regional ureter carcinoma DOID:14491|UMLS:C0854921|NCIT:C9356 owl:Class MONDO:0017377 biolink:NamedThing preaxial polydactyly-colobomata-intellectual disability syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer-Mayer syndrome|Pfeiffer Mayer syndrome|short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities Orphanet:2921|MESH:C537888|UMLS:C2931655|SCTID:733088002|ICD10:Q87.2|GARD:0004304 owl:Class MONDO:0016670 biolink:NamedThing sickle cell-hemoglobin d disease syndrome tmpte7i6ely_mondo_relaxed.owl sickle cell - hemoglobin D disease|HbSD disease GARD:0012458|UMLS:C0272084|MedDRA:10056724|Orphanet:251370|ICD10:D57.2 owl:Class MONDO:0016667 biolink:NamedThing sickle cell disease associated with an other hemoglobin anomaly tmpte7i6ely_mondo_relaxed.owl Double heterozygotes sickling disorder Orphanet:251355|UMLS:CN201907|ICD10:D57.2|GARD:0012459 https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly owl:Class MONDO:0042604 biolink:NamedThing Sandhaus-Ben-Ami syndrome tmpte7i6ely_mondo_relaxed.owl Sandhaus Ben-Ami syndrome|patella hypoplasia skeletal malformations GARD:0000154|UMLS:C2931451|MESH:C537233 owl:Class MONDO:0010635 biolink:NamedThing hypogonadotropic hypogonadism 1 with or without anosmia The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. tmpte7i6ely_mondo_relaxed.owl KAL1|hypogonadotropic hypogonadism 1 with or without anosmia|dysplasia olfactogenitalis of de Morsier|Kallmann syndrome, type 1, X-linked|ANOS1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism and anosmia|anosmic hypogonadism|dysplasia Olfactogenitalis of De Morsier|Kallmann syndrome, X-linked|KMS|hypogonadotropic hypogonadism caused by mutation in ANOS1|HH1|Kallmann syndrome 1 Orphanet:478|OMIM:308700|NCIT:C75480|UMLS:C1563719|DOID:0090094|GARD:0003071|ICD10:E23.0 owl:Class MONDO:0001847 biolink:NamedThing nuclear senile cataract A senile cataract that involves the lens nucleus. tmpte7i6ely_mondo_relaxed.owl Senile nuclear cataract|Senile nuclear sclerosis|lens nucleus senile cataract|senile cataract of lens nucleus SCTID:193589009|ICD9:366.16|DOID:13963 owl:Class MONDO:0004729 biolink:NamedThing dyskinesia of esophagus Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). tmpte7i6ely_mondo_relaxed.owl esophageal dysmotility|oesophageal motor disorder|esophageal motility disorder|dyskinesia of oesophagus|oesophageal dysmotility DOID:9192|ICD9:530.5|EFO:1001785|UMLS:C0014858|ICD10:K22.4|MESH:D015154|SCTID:266434009 owl:Class MONDO:0025712 biolink:NamedThing angioedema, hereditary, 4 tmpte7i6ely_mondo_relaxed.owl HAE4 OMIM:619360 owl:Class MONDO:0010654 biolink:NamedThing Partington syndrome A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic 1|intellectual disability, X-linked 36|Partington X-linked intellectual disability syndrome|X-linked intellectual disability-dystonia-dysarthria syndrome|Partington X-linked mental retardation syndrome|PRTS|intellectual disability-dystonic movements-ataxia-seizures syndrome|mental retardation, X-linked 36|mental retardation, X-linked, with dystonic movements, ataxia, and seizures|Partington syndrome|Partington-Mulley syndrome|mental retardation, X-linked, syndromic 1|X-linked Russell-Silver syndrome|MRXS1|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures Orphanet:94083|GARD:0004235|DOID:14744|OMIM:309510 owl:Class MONDO:0000601 biolink:NamedThing autoimmune disorder of urogenital tract A hypersensitivity reaction type II disease that involves the genitourinary system. tmpte7i6ely_mondo_relaxed.owl autoimmune disease of genitourinary system|genitourinary system autoimmune disease|genitourinary system hypersensitivity reaction type II disease DOID:0060049 owl:Class UBERON:0016632 biolink:NamedThing isthmus of fallopian tube tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9411 biolink:NamedThing PRKCSH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003824 biolink:NamedThing hereditary kidney oncocytoma An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. tmpte7i6ely_mondo_relaxed.owl familial renal oncocytoma|hereditary kidney oncocytoma|hereditary renal oncocytoma DOID:6244|NCIT:C8960|UMLS:C0879606 owl:Class HGNC:14677 biolink:NamedThing DEAF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1552 biolink:NamedThing CBX2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006565 biolink:NamedThing female urethral meatus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012240 biolink:NamedThing urethral meatus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009920 biolink:NamedThing optic neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010007 biolink:NamedThing microbrachycephaly-ptosis-cleft lip syndrome Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Richieri Costa-Guion Almeida-Ramos syndrome|Richieri-COSTA/Guion-Almeida syndrome|microbrachycephaly ptosis cleft lip|short stature, mental retardation, eye anomalies, and cleft Lip/palate|short stature, intellectual disability, eye anomalies, and cleft Lip/palate|sao Paulo MCA/Mr syndrome UMLS:C0796142|ICD10:Q87.8|GARD:0003596|OMIM:268850|Orphanet:2511 https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip owl:Class MONDO:0018967 biolink:NamedThing short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia tmpte7i6ely_mondo_relaxed.owl OMIM:307200|ICD10:E23.0|Orphanet:632 Editor note: classified as both isolated and syndromic in ORDO owl:Class MONDO:0003135 biolink:NamedThing focal embolic glomerulonephritis Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. tmpte7i6ely_mondo_relaxed.owl UMLS:C0238143|DOID:4779|NCIT:C35707 owl:Class HGNC:3003 biolink:NamedThing DPH1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C35867 biolink:NamedThing Morphologic Finding tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C83490 biolink:NamedThing Microscopic Finding tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5478 biolink:NamedThing [Candida] glabrata tmpte7i6ely_mondo_relaxed.owl Candida glabrata|Torulopsis glabrata|Cryptococcus glabratus PMID:14654427|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:600669 biolink:NamedThing Nakaseomyces/Candida clade tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436489 biolink:NamedThing Saurischia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436486 biolink:NamedThing Dinosauria tmpte7i6ely_mondo_relaxed.owl dinosaurs|dinosaur GC_ID:1 ncbi_taxonomy owl:Class ECTO:0000979 biolink:NamedThing exposure to temperature of environmental surroundings A exposure event involving the interaction of an exposure receptor to temperature of environmental material. tmpte7i6ely_mondo_relaxed.owl temperature of environmental material exposure owl:Class MONDO:0000270 biolink:NamedThing lower respiratory tract disorder A disease involving the lower respiratory tract. tmpte7i6ely_mondo_relaxed.owl disease or disorder of lower respiratory tract|lower respiratory tract disease or disorder|disease of lower respiratory tract|lower respiratory tract disease|disorder of lower respiratory tract SCTID:128272009|DOID:0050161|ICD9:478.1|ICD9:478.19|UMLS:C1290325 owl:Class MONDO:0010260 biolink:NamedThing arthrogryposis, congenital, lower limb, X-linked tmpte7i6ely_mondo_relaxed.owl arthrogryposis, congenital, LOWER limb, X-linked|arthrogryposis, X-linked, type V|ACLLX|arthrogryposis, X-linked, type V, formerly MESH:C564574|OMIM:300158|UMLS:C1846273 owl:Class UBERON:0003327 biolink:NamedThing mesenchyme of forearm tmpte7i6ely_mondo_relaxed.owl owl:Class SO:1000182 biolink:NamedThing chromosome_number_variation A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpte7i6ely_mondo_relaxed.owl Jannovar:chromosome_number_variation|chromosome number variation owl:Class SO:0000240 biolink:NamedThing chromosome_variation A deviation in chromosome structure or number. tmpte7i6ely_mondo_relaxed.owl chromosome variation owl:Class GO:0055025 biolink:NamedThing positive regulation of cardiac muscle tissue development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. tmpte7i6ely_mondo_relaxed.owl up-regulation of cardiac muscle development|positive regulation of heart muscle development|up regulation of cardiac muscle development|activation of cardiac muscle development|upregulation of cardiac muscle development|stimulation of cardiac muscle development owl:Class GO:0003012 biolink:NamedThing muscle system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. tmpte7i6ely_mondo_relaxed.owl muscle physiological process owl:Class GO:0050747 biolink:NamedThing positive regulation of lipoprotein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpte7i6ely_mondo_relaxed.owl upregulation of lipoprotein metabolic process|positive regulation of lipoprotein metabolism|stimulation of lipoprotein metabolic process|up-regulation of lipoprotein metabolic process|up regulation of lipoprotein metabolic process|activation of lipoprotein metabolic process owl:Class HGNC:20153 biolink:NamedThing CHD8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014912 biolink:NamedThing infantile-onset periodic fever-panniculitis-dermatosis syndrome tmpte7i6ely_mondo_relaxed.owl autoinflammation, panniculitis and dermatosis syndrome|otulipenia|Autoinflammation, panniculitis, and dermatosis syndrome|ORAS|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome|otulin-related autoinflammatory syndrome|AIPDS|otulin deficiency UMLS:C4310614|GARD:0013198|SCTID:765435009|OMIM:617099|Orphanet:500062|DOID:0080163 https://rarediseases.info.nih.gov/diseases/13198/otulipenia owl:Class CHEBI:71300 biolink:NamedThing EC 2.* (transferase) inhibitor An enzyme inhibitor that inhibits the action of a transferase (EC 2.*) tmpte7i6ely_mondo_relaxed.owl transferase inhibitors|EC 2.* inhibitor|EC 2 inhibitors|EC 2 inhibitor|transferase inhibitor|EC 2.* (transferase) inhibitors|EC 2.* inhibitors owl:Class MONDO:0017871 biolink:NamedThing bilateral massive adrenal hemorrhage tmpte7i6ely_mondo_relaxed.owl BMAH|bilateral adrenal hemorrhage UMLS:CN203920|Orphanet:319205|ICD10:E27.4 owl:Class MONDO:0006139 biolink:NamedThing cervical metaplasia Metaplastic changes in the cervical glandular or squamous epithelium. tmpte7i6ely_mondo_relaxed.owl EFO:1000168|UMLS:C0281796|NCIT:C4056 owl:Class MONDO:0002256 biolink:NamedThing cervix disorder A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. tmpte7i6ely_mondo_relaxed.owl cervical disorder|disease of uterine cervix|disorder of uterine cervix|uterine cervix disease|disease or disorder of uterine cervix|uterine cervix disease or disorder UMLS:C0007867|NCIT:C40241|MESH:D002577|SCTID:63339007|DOID:2253 owl:Class MONDO:0008114 biolink:NamedThing obsessive-compulsive disorder A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. tmpte7i6ely_mondo_relaxed.owl Anancastic neurosis|obsessive-compulsive disorder|OCD|obsessive compulsive disorder ICD10:F42|NCIT:C88411|MESH:D009771|EFO:0004242|ICD9:300.3|SCTID:191736004|DOID:10933|OMIM:164230 owl:Class MONDO:0005618 biolink:NamedThing anxiety disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. tmpte7i6ely_mondo_relaxed.owl anxiety state|anxiety disorder|anxiety MESH:D001008|OMIM:607834|ICD9:300.09|DOID:2030|NCIT:C2878|ICD10:F41.9|SCTID:197480006|EFO:0006788 owl:Class HP:0002134 biolink:NamedThing Abnormality of the basal ganglia Abnormality of the basal ganglia. tmpte7i6ely_mondo_relaxed.owl Basal ganglia disease|Anomaly of the basal ganglia SNOMEDCT_US:70835005|UMLS:C0004782|MSH:D001480 The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. HP:0006952|HP:0007257 human_phenotype owl:Class MONDO:0019906 biolink:NamedThing ring chromosome 11 Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. tmpte7i6ely_mondo_relaxed.owl Ring chromosome 11 syndrome|Ring 11|chromosome 11 ring|r(11) syndrome|RC11|Ring chromosome type 11|r11 Orphanet:96175|SCTID:111310003|UMLS:C0265444|ICD10:Q93.2|ICD9:758.89|EFO:0002849|GARD:0010846 https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 owl:Class MONDO:0024422 biolink:NamedThing auditory perceptual disorders Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. tmpte7i6ely_mondo_relaxed.owl processing disorders, auditory|disorders, auditory processing|auditory inattention|Inattentions, auditory|perceptual disorder, auditory|auditory processing disorder|perceptual disorders, acoustic|acoustic perceptual disorders|comprehension disorders, auditory|acoustic perceptual disorder|disorder of sensory perception of sound|perceptual disorder, acoustic|auditory processing disorders|disorders, acoustic perceptual|perceptual disorders, auditory|Psychoacoustical disorders|processing disorder, auditory|auditory comprehension disorder|inattention, auditory|auditory perceptual disorder|disorder, acoustic perceptual|disorder, auditory comprehension|Psychoacoustical disorder|disorders, Psychoacoustical|sensory perception of sound disease|disorders, auditory comprehension|comprehension disorder, auditory|auditory Inattentions|auditory comprehension disorders|disorder, auditory processing|disorder, Psychoacoustical UMLS:C0751257|SCTID:229752008|NCIT:C84575|MESH:D001308 owl:Class UBERON:0011213 biolink:NamedThing root of vagus nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017658 biolink:NamedThing hyperekplexia A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia tmpte7i6ely_mondo_relaxed.owl Orphanet:306773|ICD10:G25.8 owl:Class UBERON:8410001 biolink:NamedThing small intestine venule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013050 biolink:NamedThing lethal polymalformative syndrome, Boissel type tmpte7i6ely_mondo_relaxed.owl growth retardation, developmental delay, and facial dysmorphism|GDFD MESH:C567856|ICD10:Q87.8|Orphanet:210144|OMIM:612938 owl:Class CL:2000017 biolink:NamedThing fibroblast of peridontal ligament Any fibroblast that is part of a periodontal ligament. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T16:50:33Z cell owl:Class ECTO:4000025 biolink:NamedThing exposure to increased pressure A exposure event involving the interaction of an exposure receptor to increased pressure. tmpte7i6ely_mondo_relaxed.owl increased pressure exposure owl:Class HGNC:9831 biolink:NamedThing RAG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043257 biolink:NamedThing pemphigus and fogo selvagem tmpte7i6ely_mondo_relaxed.owl wildfire pemphigus|endemic pemphigus foliaceus|Brazilian pemphigus foliaceus|amendola's syndrome|South American pemphigus|wild fire|Brazilian pemphigus|fogo selvagem|FS GARD:0007353|MESH:C535551|HGNC:3048|SCTID:46459009|UMLS:C0263314 owl:Class MONDO:0019324 biolink:NamedThing pemphigus foliaceus Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. tmpte7i6ely_mondo_relaxed.owl PF HGNC:3050|Orphanet:79481|ICD10:L10.2|UMLS:C0263313|MedDRA:10057069|GARD:0007354|SCTID:35154004|EFO:0008601 https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus owl:Class MONDO:0009884 biolink:NamedThing platelet prostacyclin receptor defect tmpte7i6ely_mondo_relaxed.owl platelet prostacyclin receptor defect|Vienna-Hietzing defect OMIM:262875|UMLS:C1849774|MESH:C564884 owl:Class HGNC:31948 biolink:NamedThing CEACAM16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013252 biolink:NamedThing Warsaw breakage syndrome A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. tmpte7i6ely_mondo_relaxed.owl WARSAW breakage syndrome|Warsaw breakage syndrome|WABS OMIM:613398|SCTID:702829000|UMLS:C3150658|DOID:0060535|ICD9:759.89|Orphanet:280558 owl:Class GO:2001171 biolink:NamedThing positive regulation of ATP biosynthetic process Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of ATP biosynthesis|positive regulation of ATP regeneration|positive regulation of ATP synthesis|positive regulation of ATP anabolism|positive regulation of ATP formation owl:Class MONDO:0007633 biolink:NamedThing Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness tmpte7i6ely_mondo_relaxed.owl Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness UMLS:C1850982|OMIM:136600|MESH:C564999 owl:Class UBERON:0003446 biolink:NamedThing ankle nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009877 biolink:NamedThing Laron syndrome Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. tmpte7i6ely_mondo_relaxed.owl primary GH resistance|Laron syndrome|pituitary dwarfism II|pituitary dwarfism 2|Laron-type dwarfism|primary growth hormone resistance|complete growth hormone insensitivity|primary growth hormone insensitivity|short stature due to growth hormone resistance|Growth hormone receptor deficiency|primary GH insensitivity|Laron type pituitary dwarfism I|Laron dwarfism|GH receptor deficiency|growth hormone insensitivity syndrome|Laron-type isolated somatotropin defect DOID:9521|GARD:0006859|OMIM:262500|MESH:D046150|NCIT:C130994|SCTID:38196001|Orphanet:633|UMLS:C0271568|ICD10:E34.3 owl:Class MONDO:0037105 biolink:NamedThing lung germ cell tumor A germ cell tumor that arises from the lung. tmpte7i6ely_mondo_relaxed.owl lung germ cell tumor|lung germ cell neoplasm UMLS:C1708771|NCIT:C45636 owl:Class UBERON:0010204 biolink:NamedThing tail vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004630 biolink:NamedThing substance-induced psychosis tmpte7i6ely_mondo_relaxed.owl DOID:8646|ICD9:293.89 owl:Class MONDO:0020426 biolink:NamedThing malposition of the coronary ostium Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery. tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99090 owl:Class HGNC:1632 biolink:NamedThing CD164 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009866 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, cytosolic PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). tmpte7i6ely_mondo_relaxed.owl phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency|PEPCK1 deficiency|phosphoenolpyruvate carboxykinase deficiency|phosphoenolpyruvate carboxylase deficiency|PEPCK deficiency, cytosolic|PEP carboxykinase deficiency|PEPCK 1 deficiency|PCK1 deficiency, cytosolic|PCKDC|phosphopyruvate carboxylase deficiency|phosphoenolpyruvate carboxykinase deficiency, cytosolic UMLS:C0268194|Orphanet:2880|GARD:0004278|OMIM:261680|Orphanet:79316 owl:Class GO:0033151 biolink:NamedThing V(D)J recombination The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpte7i6ely_mondo_relaxed.owl V(D)J joining|V-D-J recombination|V-J joining|V-J recombination|V-D-J joining owl:Class NCBITaxon:2038102 biolink:NamedThing Balantioides tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004879 biolink:NamedThing senile atrophy of choroid tmpte7i6ely_mondo_relaxed.owl SCTID:38513001|ICD9:363.41|DOID:9776|UMLS:C0154891 owl:Class MONDO:0044875 biolink:NamedThing coronary microvascular disorder A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom. tmpte7i6ely_mondo_relaxed.owl heart disease of microvascular endothelium|CMD|coronary microvascular disease|microvascular endothelium heart disease NCIT:C84478 owl:Class CL:0002121 biolink:NamedThing CD24-negative CD38-negative IgG-negative class switched memory B cell A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0001762 biolink:NamedThing dentine erosion A tooth erosion, non-bacterial that involves the dentine. tmpte7i6ely_mondo_relaxed.owl dentine tooth erosion, non-bacterial|tooth erosion, non-bacterial of dentine DOID:13629|ICD9:521.32 owl:Class MONDO:0014547 biolink:NamedThing combined oxidative phosphorylation defect type 24 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene. tmpte7i6ely_mondo_relaxed.owl NARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 24|combined oxidative phosphorylation deficiency caused by mutation in NARS2|combined oxidative phosphorylation deficiency 24|COXPD24 ICD10:G71.3|DOID:0111485|Orphanet:444458|OMIM:616239|EFO:0009034|UMLS:C4015643 owl:Class HGNC:11834 biolink:NamedThing TKT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018270 biolink:NamedThing extraskeletal Ewing sarcoma A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. tmpte7i6ely_mondo_relaxed.owl extraskeletal Ewing sarcoma|extraskeletal Ewing tumor|extraosseous Ewing's sarcoma|Extra-osseous Ewing's sarcoma|extraosseous Ewing sarcoma|EOE|extraskeletal Ewing's sarcoma|extraosseous Ewing tumor|extraosseous Ewing's tumor UMLS:C1333514|NCIT:C7135|UMLS:CN204849|NCIT:C27293|UMLS:C0279980|Orphanet:370334|DOID:4232|ICD10:C49.9 owl:Class MONDO:0001471 biolink:NamedThing histoplasmosis meningitis An infectious meningitis caused by infection with Histoplasma capsulatum. tmpte7i6ely_mondo_relaxed.owl Histoplasma capsulatum infectious meningitis|histoplasmosis with meningitis|Histoplasma capsulatum caused infectious meningitis ICD9:115.91|DOID:12246 owl:Class MONDO:0021250 biolink:NamedThing tonsil neoplasm A neoplasm (disease) that involves the tonsil. tmpte7i6ely_mondo_relaxed.owl tonsillar neoplasms|neoplasm of tonsil|tonsil neoplasm (disease)|tumor of tonsil|neoplasm of the tonsil|tonsillar neoplasm|tonsil tumor|tumor of the tonsil|tonsillar tumor NCIT:C3417|SCTID:127227003 owl:Class MONDO:0011647 biolink:NamedThing Alzheimer disease 7 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. tmpte7i6ely_mondo_relaxed.owl AD7|Alzheimer's disease 7|Ad7|Alzheimer disease type 7|Alzheimer disease, familial, 7|Alzheimer disease, familial 7|Alzheimer disease 7|Alzheimer's disease type 7 DOID:0110039|UMLS:C1853555|OMIM:606187|Orphanet:1020|ICD10:G30|MESH:C565251 owl:Class MONDO:0011103 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 3A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant nonsyndromic sensorineural 3|autosomal dominant nonsyndromic deafness caused by mutation in GJB2|NSRD1|deafness, autosomal dominant type 3A|DFNA3A|autosomal dominant nonsyndromic deafness 3A|autosomal dominant nonsyndromic deafness type 3A|DFNA3|deafness, autosomal dominant 3A|GJB2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 3A|neurosensory nonsyndromic dominant deafness 1 GARD:0009933|UMLS:C2675750|DOID:0110564|OMIM:601544|ICD10:H90.3|MESH:C567277 Editor note: consider adding grouping for 3A/3B owl:Class MONDO:0017393 biolink:NamedThing blepharophimosis - intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl SBBYS syndrome|blepharophimosis syndrome Ohdo type|blepharophimosis mental retardation syndromes|BMRS|Young Simpson syndrome|Say Barber Biesecker Young-Simpson syndrome|blepharophimosis intellectual disability syndromes GARD:0010892|Orphanet:293642|UMLS:CN203134 owl:Class MONDO:0002298 biolink:NamedThing cutaneous glomangioma A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells. tmpte7i6ely_mondo_relaxed.owl glomangioma of skin|glomangioma of the skin|zone of skin glomangioma|skin glomangioma|cutaneous glomangioma NCIT:C6750|SCTID:403970001|DOID:2435|UMLS:C1275226 owl:Class CL:1000437 biolink:NamedThing epithelial cell of nasolacrimal duct An epithelial cell that is part of the nasolacrimal duct. tmpte7i6ely_mondo_relaxed.owl FMA:70561 cell owl:Class UBERON:0004985 biolink:NamedThing mucosa of ejaculatory duct tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004381 biolink:NamedThing Supravalvular aortic stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:268185002|MSH:D021921|UMLS:C0003499|Fyler:1430 peter 2008-03-18T08:54:00Z human_phenotype owl:Class HP:0031652 biolink:NamedThing Abnormal aortic valve physiology tmpte7i6ely_mondo_relaxed.owl 2017-12-17 15:20:51+00:00 peter human_phenotype owl:Class MONDO:0023071 biolink:NamedThing enterovirus antenatal infection tmpte7i6ely_mondo_relaxed.owl GARD:0002130 https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection owl:Class MONDO:0024969 biolink:NamedThing parasitic disease, non-human animal Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary. tmpte7i6ely_mondo_relaxed.owl animal parasitic disease|diseases, animal parasitic|parasitic disease, animal|animal parasitic diseases|disease, animal parasitic UMLS:C0030500|MESH:D010273 owl:Class MONDO:0018671 biolink:NamedThing IgG4-related kidney disease tmpte7i6ely_mondo_relaxed.owl Orphanet:449395|ICD10:N11.8|UMLS:CN237737 owl:Class UBERON:0018673 biolink:NamedThing neck of fibula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008835 biolink:NamedThing asthma, short stature, and elevated IgA tmpte7i6ely_mondo_relaxed.owl asthma, short stature, and elevated IgA MESH:C565934|UMLS:C1859647|OMIM:208600 owl:Class MONDO:0012168 biolink:NamedThing dyslexia, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl DYX8|dyslexia, susceptibility to, 8 OMIM:608995 owl:Class MONDO:0023149 biolink:NamedThing infection due to clostridium perfringens tmpte7i6ely_mondo_relaxed.owl Clostridium perfringens Infections|Infection, Clostridium perfringens|Clostridium perfringens infection|Infections, Clostridium perfringens|C. perfringens infection|Infection due to Clostridium perfringens|Clostridium perfringens Infection|Infection caused by Clostridium perfringens GARD:0011970|UMLS:C0275619|SCTID:65154009 owl:Class MONDO:0016770 biolink:NamedThing actinic lichen planus Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions. tmpte7i6ely_mondo_relaxed.owl lichenoid melanodermatitis|lichen planus actinus|lichen planus subtropicus|actinic LP|summertime actinic lichenoid eruption|lichen planus tropicus Orphanet:254395|ICD10:L43.8|SCTID:200999007|UMLS:C0406365|GARD:0012673 https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus owl:Class MONDO:0014840 biolink:NamedThing agammaglobulinemia 8, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. tmpte7i6ely_mondo_relaxed.owl agammaglobulinemia 8, autosomal dominant; AGM8|autosomal agammaglobulinemia caused by mutation in TCF3|agammaglobulinemia 8, autosomal dominant|AGM8|agammaglobulinemia, autosomal dominant, due to TCF3 defect|TCF3 autosomal agammaglobulinemia UMLS:C4310786|OMIM:616941 owl:Class MONDO:0010221 biolink:NamedThing CHIME syndrome CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. tmpte7i6ely_mondo_relaxed.owl coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|neuroectodermal syndrome, Zunich type|congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome|neuroectodermal dysplasia, CHIME type|Zunich-Kaye syndrome|glycosylphosphatidylinositol biosynthesis defect 5|CHIME|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|PIGL-CDG|Zunich neuroectodermal syndrome GARD:0000310|Orphanet:3474|MESH:C536729|OMIM:280000|UMLS:C1848392|ICD10:Q87.8|SCTID:720639008 owl:Class GO:0045599 biolink:NamedThing negative regulation of fat cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. tmpte7i6ely_mondo_relaxed.owl inhibition of fat cell differentiation|down regulation of fat cell differentiation|downregulation of fat cell differentiation|negative regulation of adipocyte cell differentiation|negative regulation of adipocyte differentiation|down-regulation of fat cell differentiation owl:Class MONDO:0018980 biolink:NamedThing acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. tmpte7i6ely_mondo_relaxed.owl Kennedy-Teebi syndrome ICD10:Q75.4|SCTID:720427009|Orphanet:64542|UMLS:CN205418 owl:Class UBERON:0009622 biolink:NamedThing pronephric proximal straight tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005310 biolink:NamedThing pronephric nephron tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020838 biolink:NamedThing anterior nasal diphtheria Infection of the anterior nasal structures by Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl anterior nasal diphtheria|Anterior nasal diphtheria|Anterior Nasal Diphtheria UMLS:C0012553|NCIT:C34542|ICD9:032.2|SCTID:15682004 owl:Class MONDO:0005504 biolink:NamedThing diphtheria A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. tmpte7i6ely_mondo_relaxed.owl Corynebacterium infection ICD9:032.9|GARD:0001875|ICD10:A36.1|NCIT:C34541|ICD10:A36.0|Orphanet:1679|ICD10:A36.2|ICD10:A36.3|ICD10:A36.8|DOID:11405|SCTID:397428000|ICD10:A36.9|MESH:D004165|ICD9:032|EFO:0005549|UMLS:C0012546|MedDRA:10013023|ICD10:A36 https://rarediseases.info.nih.gov/diseases/1875/diphtheria owl:Class MONDO:0002065 biolink:NamedThing benign breast adenomyoepithelioma A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation. tmpte7i6ely_mondo_relaxed.owl benign adenomyoepithelioma of the breast|benign adenomyoepithelioma of breast|benign breast adenomyoepithelioma|breast adenomyoepithelioma, benign NCIT:C5144|UMLS:C1332477|DOID:1641 owl:Class MONDO:0002066 biolink:NamedThing breast adenomyoepithelioma A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases. tmpte7i6ely_mondo_relaxed.owl breast adenomyoepithelioma with malignant change|adenomyoepithelioma of the breast|malignant adenomyoepithelioma of breast|BRAME|breast adenomyoepithelioma DOID:1642|ICDO:8983/0|ONCOTREE:BRAME|NCIT:C6899|UMLS:C1510795 owl:Class MONDO:0000375 biolink:NamedThing bronchus carcinoma in situ A carcinoma in situ involving a bronchus. tmpte7i6ely_mondo_relaxed.owl bronchus in situ carcinoma|stage 0 bronchus carcinoma|carcinoma in situ of bronchus UMLS:C2939445|DOID:0050614|SCTID:92557009 owl:Class MONDO:0003655 biolink:NamedThing cerebral lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. tmpte7i6ely_mondo_relaxed.owl cerebral lymphoma|brain primary lymphoma|primary lymphoma of cerebrum|primary lymphoma, brain|primary cerebral lymphoma|primary lymphoma of the cerebrum DOID:5815|NCIT:C7611|SCTID:276836002|UMLS:C0240803 owl:Class MONDO:0005126 biolink:NamedThing tuberculoid leprosy A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. tmpte7i6ely_mondo_relaxed.owl smooth leprosy|tuberculoid leprosy [type T]|type T leprosy UMLS:C0023351|ICD10:A30.1|DOID:1025|ICD9:030.1|MESH:D015441|SCTID:70143003|EFO:0001056 owl:Class MONDO:0020304 biolink:NamedThing isochromosomy Yp Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. tmpte7i6ely_mondo_relaxed.owl ICD10:Q98.6|SCTID:766708008|Orphanet:98797 owl:Class MONDO:0019935 biolink:NamedThing isochromosome Y tmpte7i6ely_mondo_relaxed.owl Isochromosome type Y ICD10:Q98.6|Orphanet:96325 owl:Class GO:0016774 biolink:NamedThing phosphotransferase activity, carboxyl group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010801 biolink:NamedThing spondylocamptodactyly syndrome Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. tmpte7i6ely_mondo_relaxed.owl spondylocamptodactyly|spondylo camptodactyly syndrome|camptodactyly with cervical platyspondyly UMLS:C4274762|UMLS:C1838781|ICD10:Q77.8|GARD:0004972|MESH:C535779|SCTID:716231009|OMIM:600000|Orphanet:3180 owl:Class MONDO:0019694 biolink:NamedThing spondylodysplastic dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:93434 owl:Class MONDO:0017400 biolink:NamedThing hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. tmpte7i6ely_mondo_relaxed.owl diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia|hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome|Mitchell-Riley syndrome|hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|MTCHRS UMLS:C2748662|Orphanet:293864|ICD10:Q45.8|OMIM:615710 owl:Class UBERON:0007134 biolink:NamedThing trunk ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007099 biolink:NamedThing hyoid neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23824 biolink:NamedThing diol A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols. tmpte7i6ely_mondo_relaxed.owl diols owl:Class CHEBI:26191 biolink:NamedThing polyol A compound that contains two or more hydroxy groups. tmpte7i6ely_mondo_relaxed.owl polyols owl:Class CL:1000467 biolink:NamedThing chromaffin cell of left ovary A chromaffin cell that is part of the left ovary. tmpte7i6ely_mondo_relaxed.owl FMA:74321 cell owl:Class UBERON:0004482 biolink:NamedThing musculature of lower limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003607 biolink:NamedThing neuritis of upper limb A neuritis that involves the forelimb. tmpte7i6ely_mondo_relaxed.owl forelimb neuritis|neuritis of forelimb ICD9:354|DOID:572 owl:Class UBERON:0015083 biolink:NamedThing proximal tarsal bone pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011761 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 21 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 21|autosomal dominant deafness 21|autosomal dominant nonsyndromic deafness 21|DFNA21|deafness, autosomal dominant 21 ICD10:H90.3|UMLS:C1846922|MESH:C564634|OMIM:607017|DOID:0110551 owl:Class MONDO:0000481 biolink:NamedThing cervical dystonia Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery. tmpte7i6ely_mondo_relaxed.owl spasmodic torticollis Orphanet:93962|SCTID:74333002|ICD9:333.83|NCIT:C85072|DOID:0050840|GARD:0010668 https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia owl:Class GO:0060632 biolink:NamedThing regulation of microtubule-based movement Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000446 biolink:NamedThing midface dysplasia tmpte7i6ely_mondo_relaxed.owl DOID:0050767 owl:Class MONDO:0009284 biolink:NamedThing glutathione synthetase deficiency without 5-oxoprolinuria tmpte7i6ely_mondo_relaxed.owl GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Orphanet:32|MESH:C565545|ICD10:D55.1|Orphanet:289849|OMIM:231900|UMLS:C1856399 owl:Class HP:0012828 biolink:NamedThing Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. tmpte7i6ely_mondo_relaxed.owl Severe UMLS:C0205082|SNOMEDCT_US:24484000 PATO:0000396, severe. peter 2014-06-06T07:03:17Z human_phenotype owl:Class HP:0012824 biolink:NamedThing Severity The intensity or degree of a manifestation. tmpte7i6ely_mondo_relaxed.owl Intensity UMLS:C0522510|SNOMEDCT_US:103370009 Synonymous with PATO:0000049, intensity. peter 2014-06-06T06:39:22Z human_phenotype owl:Class MONDO:0002299 biolink:NamedThing glomangioma A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. tmpte7i6ely_mondo_relaxed.owl glomangioma MESH:D005918|UMLS:C0334421|NCIT:C4222|ICDO:8712/0|DOID:2436 owl:Class MONDO:0019534 biolink:NamedThing mixed-type autoimmune hemolytic anemia Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. tmpte7i6ely_mondo_relaxed.owl mixed AIHA SCTID:718716008|Orphanet:90036|ICD10:D59.1|UMLS:C4305257 owl:Class MONDO:0020108 biolink:NamedThing autoimmune hemolytic anemia Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl autoimmune haemolytic anaemia|idiopathic autoimmune hemolytic anemia|autoimmune hemolytic anemia|anemia, autoimmune hemolytic|AIHA|immuno-hemolytic anemia|anemia hemolytic autoimmune|acquired autoimmune hemolytic anemia|AHA|familial auto-immune hemolytic anemia (subtype) Orphanet:98375|MESH:D000744|ICD10:D59.1|ICD10:D59.0|EFO:1001264|SCTID:413603009|CSP:0427-1178|UMLS:C0002880|GARD:0005870|ICD9:283.0|OMIM:205700|MedDRA:10002046|NCIT:C34378|DOID:718 owl:Class HP:0100872 biolink:NamedThing Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. tmpte7i6ely_mondo_relaxed.owl Minor feet anomalies UMLS:C4020946 doelkens 2011-11-30T11:23:05Z HP:0010613 human_phenotype owl:Class HP:0011356 biolink:NamedThing Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023402 peter 2012-03-01T02:39:14Z human_phenotype owl:Class UBERON:0015031 biolink:NamedThing pedal digit 1 phalanx endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004257 biolink:NamedThing childhood central nervous system mixed germ cell tumor A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric mixed germ cell tumor of central nervous system|childhood mixed germ cell tumor of central nervous system|Central nervous system Mixed germ cell tumor|mixed germ cell tumor of central nervous system of childhood NCIT:C27403|UMLS:C1332956|DOID:7516 owl:Class MONDO:0040566 biolink:NamedThing inherited glutathione metabolism disease An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process. tmpte7i6ely_mondo_relaxed.owl glutathione metabolism disorder, inherited|inborn glutathione metabolic process disorder|inborn error of glutathione metabolism|rare inborn error of glutathione metabolic process|inborn error of glutathione metabolic process SCTID:72262000|UMLS:C0268518 owl:Class MONDO:0019241 biolink:NamedThing inborn disorder of the gamma-glutamyl cycle tmpte7i6ely_mondo_relaxed.owl disorder of the gamma-glutamyl cycle|disorder of gamma-glutamyl cycle UMLS:C0268517|Orphanet:79196|ICD10:E72.8|SCTID:9128006 Editor note: request from GO owl:Class MONDO:0008387 biolink:NamedThing ring dermoid of cornea Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. tmpte7i6ely_mondo_relaxed.owl RING dermoid of cornea|bilateral, annular limbal dermoids with corneal and conjunctival extension|ring dermoid of cornea|RDC|Ring dermoid syndrome Orphanet:91481|SCTID:723499000|ICD10:D31.1|UMLS:C1867155|DOID:0111548|OMIM:180550|MESH:C535684|GARD:0009696 https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea owl:Class MONDO:0009813 biolink:NamedThing chronic recurrent multifocal osteomyelitis Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. tmpte7i6ely_mondo_relaxed.owl osteomyelitis, chronic multifocal|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|CRMO|CNO/CRMO|chronic multifocal osteomyelitis|NBO|CMO|non-bacterial osteomyelitis|chronic recurrent multifocal osteomyelitis|multifocal osteomyelitis, chronic|chronic recurrent multifocal osteomyelitis (disease) chronic recurrent multifocal osteomyelitis (disease) ICD10:M86.3|UMLS:C0410422|HP:0002754|SCTID:240151005|NCIT:C119042|Orphanet:324964|OMIM:259680|MESH:C535456|DOID:0060645|GARD:0006108 owl:Class MONDO:0040998 biolink:NamedThing Pasteurella multocida infectious disease tmpte7i6ely_mondo_relaxed.owl infection by Pasteurella multocida|infection caused by Pasteurella multocida SCTID:197718007|GARD:0009774|UMLS:C1260911 owl:Class UBERON:0003366 biolink:NamedThing epithelium of uterine horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009166 biolink:NamedThing pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. tmpte7i6ely_mondo_relaxed.owl fatal infantile encephalopathy with olivopontocerebellar hypoplasia|encephalopathy fatal infantile with olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia|olivopontocerebellar hypoplasia|pontocerebellar hypoplasia, type 4|PCH4 OMIM:225753|Orphanet:166063|MESH:C536716|GARD:0000343|DOID:0060273|SCTID:718608006|ICD10:Q04.3|UMLS:C1856974 https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 owl:Class GO:0007613 biolink:NamedThing memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003685 biolink:NamedThing retroperitoneal germ cell neoplasm A germ cell tumor that involves the retroperitoneal space. tmpte7i6ely_mondo_relaxed.owl germ cell neoplasm of retroperitoneum|retroperitoneal germ cell tumor|germ cell tumor of retroperitoneum|germ cell tumor of the retroperitoneum|germ cell neoplasm of the retroperitoneum UMLS:C1335776|DOID:5874|NCIT:C6447 owl:Class HP:0001005 biolink:NamedThing Dermatological manifestations of systemic disorders tmpte7i6ely_mondo_relaxed.owl UMLS:C4025812 human_phenotype owl:Class MONDO:0024676 biolink:NamedThing childhood kidney Wilms tumor A Wilms tumor of the kidney which occurs in children. tmpte7i6ely_mondo_relaxed.owl kidney Wilms tumor|childhood kidney Wilms tumor|childhood Wilms tumor|childhood renal Wilms tumor|Wilms tumor|childhood renal Wilms' tumor UMLS:C1333015|NCIT:C27730 owl:Class HP:0003117 biolink:NamedThing Abnormal circulating hormone concentration An abnormal concentration of a hormone in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating hormone level|Abnormality of circulating hormone level UMLS:C4025652 human_phenotype owl:Class UBERON:0002378 biolink:NamedThing muscle of abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011155 biolink:NamedThing vacuolar Neuromyopathy tmpte7i6ely_mondo_relaxed.owl vacuolar Neuromyopathy|muscular dystrophy, autosomal dominant, with rimmed vacuoles UMLS:C1866139|MESH:C566617|OMIM:601846 owl:Class HGNC:3765 biolink:NamedThing FLT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010336 biolink:NamedThing orofaciodigital syndrome VIII Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome, Edwards type|oral-Facial-digital syndrome with hypoplastic Epiglottis|OFD syndrome 8|orofaciodigital syndrome type 8|oral facial digital syndrome 8|oral-Facial-digital syndrome, type 8|orofaciodigital syndrome 8|OFD8|oral-facial-digital syndrome type 8|Ofds 8|orofaciodigital syndrome VIII|orofaciodigital syndrome type VIII|oral-facial-digital syndrome, Edwards type|oral facial digital syndrome type 8 Orphanet:2755|MESH:C557820|DOID:0060378|GARD:0004060|SCTID:722106001|ICD10:Q87.0|OMIM:300484 owl:Class NCBITaxon:1891714 biolink:NamedThing Betapolyomavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:151341 biolink:NamedThing Polyomaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012746 biolink:NamedThing dilated cardiomyopathy 2A A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, autosomal recessive|cardiomyopathy, dilated, 2A|cardiomyopathy, congestive, autosomal recessive|CMD2A|cardiomyopathy, dilated, type 2A|dilated cardiomyopathy type 2A UMLS:C2678474|DOID:0110460|OMIM:611880|ICD10:I42.0 owl:Class MONDO:0001565 biolink:NamedThing abnormal retinal correspondence tmpte7i6ely_mondo_relaxed.owl SCTID:79195003|ICD9:368.34|DOID:12668|UMLS:C0155010|ICD10:H53.31 owl:Class HP:0006476 biolink:NamedThing Abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025043 peter 2008-03-28T04:41:00Z HP:0100567 human_phenotype owl:Class HGNC:23044 biolink:NamedThing NANOS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013615 biolink:NamedThing craniosynostosis and dental anomalies tmpte7i6ely_mondo_relaxed.owl Kreiborg-Pakistani syndrome|craniosynostosis and dental anomalies|craniosynostosis-dental anomalies|CRSDA UMLS:C3280073|OMIM:614188|ICD10:Q87.0|Orphanet:284149 owl:Class GO:0044877 biolink:NamedThing protein-containing complex binding Binding to a macromolecular complex. tmpte7i6ely_mondo_relaxed.owl macromolecular complex binding|protein complex binding owl:Class MONDO:0004727 biolink:NamedThing vestibule of mouth cancer A cancer that involves the oral opening. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of vestibule of mouth|malignant oral opening neoplasm|oral opening cancer|malignant tumor of vestibule of mouth|malignant neoplasm of oral opening|cancer of oral opening UMLS:C0153374|ICD10:C06.1|DOID:9188|ICD9:145.1|SCTID:187658004 owl:Class MONDO:0005491 biolink:NamedThing Chagas cardiomyopathy A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly. tmpte7i6ely_mondo_relaxed.owl Trypanosoma cruzi caused cardiomyopathy|Trypanosoma cruzi cardiomyopathy SCTID:998008|EFO:0005529|ICD9:086.0|MESH:D002598 owl:Class FOODON:00001257 biolink:NamedThing milk or milk based food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100345 biolink:NamedThing lactose intolerance tmpte7i6ely_mondo_relaxed.owl lactose intolerance|lactase persistence|lactose intolerance (disease)|LM - lactose malabsorption lactose intolerance (disease) ICD9:271.3|ICD10:E73|UMLS:C0022951|HP:0004789|SCTID:267425008|NCIT:C3154|ICD10:E73.9|EFO:1000062|OMIM:223100|Orphanet:319681|DOID:10604 owl:Class MONDO:0003333 biolink:NamedThing benign struma ovarii A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues. tmpte7i6ely_mondo_relaxed.owl struma ovarii, benign|benign struma ovarii UMLS:C1511104|NCIT:C40012|DOID:5209 owl:Class NBO:0000327 biolink:NamedThing somatic sensation related behavior "Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [OBP:GVG] tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:25046 biolink:NamedThing linear tetrapyrrole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013336 biolink:NamedThing chromosome 19p13.13 deletion syndrome 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). tmpte7i6ely_mondo_relaxed.owl Del(19)(p13.13)|chromosome 19p13.13 deletion syndrome|chromosome 19P13.13 Duplication syndrome|monosomy 19p13.13|19p13.13 microdeletion syndrome SCTID:764440006|OMIM:613638|DOID:0060426|UMLS:CN204595|Orphanet:357001|ICD10:Q93.5|UMLS:C3150894 owl:Class MONDO:0032615 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 9 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9|MC1DN9 OMIM:618232 owl:Class MONDO:0005216 biolink:NamedThing hypopharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx. tmpte7i6ely_mondo_relaxed.owl cancer of the hypopharynx|cancer of hypopharynx|carcinoma of hypopharynx|hypopharynx carcinoma|hypopharyngeal throat cancer|hypopharyngeal cancer|hypopharyngeal carcinoma|carcinoma of the hypopharynx NCIT:C9465|EFO:0002938 Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx owl:Class MONDO:0021742 biolink:NamedThing puerperal infection An infection occurring in puerperium, the period of 6-8 weeks after giving birth. tmpte7i6ely_mondo_relaxed.owl Puerperal Infections|Infections, Puerperal|Infection, Puerperal|Puerperal Infection MESH:D011645|UMLS:C0034041|EFO:1001407 owl:Class MONDO:0019526 biolink:NamedThing erythema elevatum diutinum Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. tmpte7i6ely_mondo_relaxed.owl Orphanet:90000|GARD:0008653|SCTID:58872001|ICD10:L95.1|DOID:0060567|UMLS:C0263398|MESH:C535509|ICD9:695.89|MedDRA:10056968 https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum owl:Class GO:0006776 biolink:NamedThing vitamin A metabolic process The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. tmpte7i6ely_mondo_relaxed.owl vitamin A metabolism owl:Class MONDO:0010946 biolink:NamedThing hypertrophic cardiomyopathy 6 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene. tmpte7i6ely_mondo_relaxed.owl CMH6|cardiomyopathy, familial hypertrophic, type 6|hypertrophic cardiomyopathy 6|PRKAG2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 6|hypertrophic cardiomyopathy caused by mutation in PRKAG2|cardiomyopathy, familial hypertrophic 6|hypertrophic cardiomyopathy type 6 DOID:0110312|OMIM:600858|UMLS:C1833236|MESH:C563436 owl:Class MONDO:0006917 biolink:NamedThing posterior cerebral artery infarction Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia). tmpte7i6ely_mondo_relaxed.owl UMLS:C0752132|MESH:D020762|DOID:3821|EFO:1001118 owl:Class MONDO:0022025 biolink:NamedThing boylan dew greco syndrome tmpte7i6ely_mondo_relaxed.owl congenital hypomyelination neuropathy with arthrogryposis multiplex congenita GARD:0000954|UMLS:C2931419|MESH:C537083 https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome owl:Class HP:0003496 biolink:NamedThing Increased circulating IgM level An abnormally increased level of immunoglobulin M in blood. tmpte7i6ely_mondo_relaxed.owl Increased IgM levels|Increased levels of IgM UMLS:C1839972 HP:0002962 human_phenotype owl:Class MONDO:0003064 biolink:NamedThing inverted transitional cell papilloma A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. tmpte7i6ely_mondo_relaxed.owl inverted transitional cell papilloma|inverted transitional papilloma|transitional papilloma, inverted NCIT:C4118|DOID:4630|UMLS:C0334269|ICDO:8121/1 owl:Class CL:0002111 biolink:NamedThing CD38-negative unswitched memory B cell An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl CD38- unswitched memory B-cell|CD38- unswitched memory B-lymphocyte|CD38-negative unswitched memory B-cell|CD38-negative unswitched memory B-lymphocyte|CD38- unswitched memory B cell|CD38-negative unswitched memory B lymphocyte|CD38- unswitched memory B lymphocyte cell owl:Class CL:0000970 biolink:NamedThing unswitched memory B cell An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative. tmpte7i6ely_mondo_relaxed.owl IgD+ memory B cell|unswitched memory B-cell|unswitched memory B lymphocyte|unswitched memory B-lymphocyte|non-class-switched memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD+ memory B cell'. Per DSD: Unswitched memory B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class MONDO:0005323 biolink:NamedThing bacterial sexually transmitted disease Bacterial diseases that are potentially transmitted or propagated by sexual conduct. tmpte7i6ely_mondo_relaxed.owl MESH:D015231|UMLS:C0036917|EFO:0003955 owl:Class MONDO:0018662 biolink:NamedThing autosomal recessive brachyolmia Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. tmpte7i6ely_mondo_relaxed.owl brachyolmia, autosomal recessive|brachyolmia, Hobaek/Toledo type OMIM:271530|ICD10:Q76.3|UMLS:CN237725|Orphanet:448242|OMIM:271630 owl:Class MONDO:0018626 biolink:NamedThing paratyphoid fever A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. tmpte7i6ely_mondo_relaxed.owl paratyphoid a|paratyphoid fever B|paratyphoid c|paratyphoid C fever|paratyphoid b|paratyphoid|paratyphoid A fever|paratyphoid fever C|paratyphoid fever A|paratyphoid B fever UMLS:C0030528|NCIT:C34897|MESH:D010284|ICD10:A01.3|ICD9:002.2|ICD10:A01.1|EFO:0007420|ICD9:002.1|UMLS:C0343377|UMLS:C0343375|UMLS:C0343376|Orphanet:443227|ICD9:002.3|ICD9:002.9|ICD10:A01.2|SCTID:51254007|ICD10:A01.4|DOID:3055 owl:Class PATO:0002072 biolink:NamedThing decreased affinity An affinity which is relatively low. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000213 biolink:NamedThing autoimmune disease, multisystem, infantile-onset tmpte7i6ely_mondo_relaxed.owl UMLS:CN238808|OMIMPS:615952 owl:Class UBERON:0006213 biolink:NamedThing carpus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003319 biolink:NamedThing mesenchyme of carpal region tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11083 biolink:NamedThing Powassan virus tmpte7i6ely_mondo_relaxed.owl Flavivirus powassan GC_ID:1 ncbi_taxonomy owl:Class CHEBI:51958 biolink:NamedThing organic polycyclic compound tmpte7i6ely_mondo_relaxed.owl organic polycyclic compounds owl:Class MONDO:0009923 biolink:NamedThing 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. tmpte7i6ely_mondo_relaxed.owl Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|PPSH|familial incomplete Male pseudohermaphroditism, type 2|pseudovaginal perineoscrotal hypospadias|micropenis|46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency|46,XY DSD due to 5-alpha-reductase 2 deficiency|3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|5-alpha reductase deficiency|5 Alpha steroid reductase 2 deficiency|steroid 5-alpha-reductase deficiency SCTID:57514000|OMIM:264600|NCIT:C98699|GARD:0005680|MedDRA:10000029|ICD10:Q56.1|MESH:C535830|Orphanet:753 owl:Class UBERON:0004409 biolink:NamedThing distal epiphysis of phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001514 biolink:NamedThing prolapse of urethra Prolapse of the urethral mucosa from the exterior urethral opening. tmpte7i6ely_mondo_relaxed.owl urethrocele SCTID:12068006|ICD9:599.5|ICD9:618.03|UMLS:C0238502|NCIT:C123256|DOID:12369|ICD10:N81.0 owl:Class MONDO:0001592 biolink:NamedThing prolapse of female genital organ tmpte7i6ely_mondo_relaxed.owl DOID:1284|ICD9:618.89|ICD9:618.8|ICD10:N81|UMLS:C0156349|SCTID:73998008 Editor note: requires review owl:Class MONDO:0015445 biolink:NamedThing autosomal dominant coarctation of aorta Autosomal dominant form of aorta coarctation. tmpte7i6ely_mondo_relaxed.owl autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant ICD10:Q25.1|Orphanet:1455 owl:Class MONDO:0007345 biolink:NamedThing aorta coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. tmpte7i6ely_mondo_relaxed.owl aortic coarctation|coarctation of aorta|coarctation of the aorta OMIM:120000|EFO:1001267|UMLS:C0003492|ICD9:747.10|Orphanet:1457|GARD:0005828|NCIT:C84567|MESH:D001017|ICD10:Q25.1|SCTID:7305005|MedDRA:10009807 owl:Class MONDO:0002031 biolink:NamedThing cecal disorder Pathological developments in the cecum. tmpte7i6ely_mondo_relaxed.owl disorder of caecum|disease of caecum|disease or disorder of caecum|caecum disease or disorder|caecum disease UMLS:C0007527|DOID:1518|MESH:D002429|SCTID:128525008 owl:Class MONDO:0033198 biolink:NamedThing hearing loss, autosomal recessive 106 tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 106|deafness, autosomal recessive 106|DFNB106 Orphanet:90636|DOID:0080261|OMIM:617637 owl:Class UBERON:0003644 biolink:NamedThing kidney arterial blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030049 biolink:NamedThing 46,xx sex reversal 5 tmpte7i6ely_mondo_relaxed.owl SRXX5|46,XX SEX REVERSAL 5|46,xx sex reversal 5 OMIM:618901 owl:Class MONDO:0007471 biolink:NamedThing Doyne honeycomb retinal dystrophy Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. tmpte7i6ely_mondo_relaxed.owl Malattia leventinese|Doyne honeycomb retinal dystrophy|familial drusen|dominant drusen|DHRD|Doyne honeycomb degeneration of retina|DHD|dominant radial drusen|drusen, radial, autosomal dominant OMIM:126600|UMLS:C1852020|ICD10:H35.5|Orphanet:75376|DOID:0060745|GARD:0001912|UMLS:C1832174|SCTID:193411004|OMIM:126700|UMLS:CN205694 https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy owl:Class MONDO:0006949 biolink:NamedThing retinal drusen Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. tmpte7i6ely_mondo_relaxed.owl SCTID:247153005|UMLS:C0035312|ICD9:362.57|MedDRA:10062776|DOID:2569|MESH:D015593|EFO:1001155 owl:Class MONDO:0005710 biolink:NamedThing composite lymphoma Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site. tmpte7i6ely_mondo_relaxed.owl composite Hodgkin and non-Hodgkin lymphoma|composite lymphoma Orphanet:168966|EFO:0007215|DOID:5820|UMLS:C1266191|ICDO:9596/3|NCIT:C38661|UMLS:C0545080|MESH:D058617 owl:Class MONDO:0009130 biolink:NamedThing Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. tmpte7i6ely_mondo_relaxed.owl DMC disease|pseudo-Morquio disease type I|Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome|DMC|DMC syndrome OMIM:304950|SCTID:82699004|DOID:0111167|ICD10:Q77.7|Orphanet:239|NCIT:C124844|UMLS:C0265286|GARD:0006295|OMIM:223800 owl:Class CHEBI:35992 biolink:NamedThing penams Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified. tmpte7i6ely_mondo_relaxed.owl penams owl:Class MONDO:0018141 biolink:NamedThing pyruvate carboxylase deficiency, infantile form Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. tmpte7i6ely_mondo_relaxed.owl pyruvate carboxylase deficiency, infantile type|pyruvate carboxylase deficiency type A OMIM:266150|Orphanet:353308|UMLS:CN204538|ICD10:E74.4 owl:Class MONDO:0009949 biolink:NamedThing pyruvate carboxylase deficiency disease Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. tmpte7i6ely_mondo_relaxed.owl ataxia with lactic acidosis type II|deficiency of pyruvic carboxylase|Pc deficiency|ataxia with lactic acidosis 2|pyruvate carboxylase deficiency|Leigh syndrome due to PC deficiency|pyruvate carboxylase deficiency disease|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis type 2|Leigh syndrome due to pyruvate carboxylase deficiency SCTID:87694001|DOID:3651|GARD:0007512|UMLS:C0034341|MESH:D015324|ICD10:E74.4|UMLS:C2931141|Orphanet:3008|EFO:1001142|OMIM:266150|UMLS:CN203409|ICD9:277.89|NCIT:C85040 owl:Class GO:0001956 biolink:NamedThing positive regulation of neurotransmitter secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter. tmpte7i6ely_mondo_relaxed.owl upregulation of neurotransmitter secretion|stimulation of neurotransmitter secretion|activation of neurotransmitter secretion|up regulation of neurotransmitter secretion|up-regulation of neurotransmitter secretion owl:Class GO:0051590 biolink:NamedThing positive regulation of neurotransmitter transport Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl upregulation of neurotransmitter transport|up regulation of neurotransmitter transport|stimulation of neurotransmitter transport|up-regulation of neurotransmitter transport|activation of neurotransmitter transport owl:Class MONDO:0002551 biolink:NamedThing c-P angle neurinoma tmpte7i6ely_mondo_relaxed.owl cerebellopontine angle neurinoma|cerebellopontine angle schwannoma|cerebellar Pontine angle neurinoma NCIT:C5413|UMLS:C1332905|DOID:3199 owl:Class HP:0000750 biolink:NamedThing Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age. tmpte7i6ely_mondo_relaxed.owl Deficiency of speech development|Delayed language development|Delayed speech development|Speech and language difficulties|Poor language development|Poor speech development|Impaired speech and language development|Delayed speech|Delayed speech and language development|Speech delay|Speech and language delay|Language delay|Impaired speech development|Poor speech acquisition|Speech difficulties|Late-onset speech development|Delayed speech acquisition|Language delayed|Language development deficit SNOMEDCT_US:229721007|UMLS:C0023012|SNOMEDCT_US:29164008|UMLS:C0233715|SNOMEDCT_US:62415009|MSH:D007805|UMLS:C0241210|SNOMEDCT_US:162294008|UMLS:C0454644 Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. HP:0002399|HP:0007170|HP:0002336|HP:0002117|HP:0002498|HP:0006936|HP:0007127|HP:0007172|HP:0007004|HP:0002116 human_phenotype owl:Class MONDO:0009721 biolink:NamedThing Nathalie syndrome Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. tmpte7i6ely_mondo_relaxed.owl deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|deafness-cataracts-skeletal anomalies syndrome|deafness-cataract-skeletal anomalies syndrome|Nathalie syndrome|sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome GARD:0003929|UMLS:C1850626|OMIM:255990|SCTID:716170005|ICD10:Q87.8|MESH:C538342|Orphanet:2663 https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome owl:Class GO:0032689 biolink:NamedThing negative regulation of interferon-gamma production Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpte7i6ely_mondo_relaxed.owl inhibition of interferon-gamma production|downregulation of interferon-gamma production|down regulation of interferon-gamma production|negative regulation of type II interferon production|negative regulation of interferon-gamma biosynthetic process|down-regulation of interferon-gamma production|negative regulation of interferon-gamma secretion owl:Class MONDO:0002401 biolink:NamedThing malignant tenosynovial giant cell tumor An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well. tmpte7i6ely_mondo_relaxed.owl giant cell tumour of tendon sheath, malignant|tenosynovial giant cell tumor, malignant|malignant giant cell neoplasm of the tendon sheath|malignant tendon sheath giant cell tumor|malignant tendon sheath giant cell neoplasm|malignant tenosynovial giant cell tumor|malignant giant cell neoplasm of tendon sheath|malignant giant cell tumor of tendon sheath|malignant giant cell tumor of the tendon sheath ICDO:9252/3|NCIT:C6535|UMLS:C1266168|DOID:2704 owl:Class MONDO:0002403 biolink:NamedThing synovium cancer A cancer that involves the layer of synovial tissue. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the synovium|layer of synovial tissue cancer|malignant synovial neoplasm|malignant neoplasm of synovium|malignant tumor of the synovium|cancer of layer of synovial tissue|malignant neoplasm of synovial membrane of synovial joint|malignant synovial membrane of synovial joint neoplasm|malignant neoplasm of layer of synovial tissue|malignant layer of synovial tissue neoplasm|synovial membrane of synovial joint cancer|cancer of synovial membrane of synovial joint|malignant synovial tumor|malignant tumor of synovium UMLS:C1334624|DOID:2706|NCIT:C6531 owl:Class GO:0043433 biolink:NamedThing negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpte7i6ely_mondo_relaxed.owl negative regulation of transcription factor activity|down regulation of transcription factor activity|inhibition of transcription factor activity|downregulation of transcription factor activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of thyroid hormone receptor activity|down-regulation of transcription factor activity|negative regulation of androgen receptor activity|negative regulation of DNA binding transcription factor activity owl:Class MONDO:0013860 biolink:NamedThing idiopathic membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. tmpte7i6ely_mondo_relaxed.owl glomerulonephritis, membranous|membranous nephropathy, susceptibility to|membranous GN|Idiopathic membranous glomerulopathy|Extramembranous glomerulonephritis|MGN|MBNP|membranous nephropathy - Idiopathic|idiopathic membranous nephropathy OMIM:614692|Orphanet:97560|ICD10:N04.2|SCTID:722119002|NCIT:C123060|UMLS:C0086445|GARD:0009180 owl:Class GO:0010907 biolink:NamedThing positive regulation of glucose metabolic process Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpte7i6ely_mondo_relaxed.owl positive regulation of glucose metabolism owl:Class MONDO:0011949 biolink:NamedThing Thai symphalangism syndrome tmpte7i6ely_mondo_relaxed.owl Thai symphalangism syndrome OMIM:608028|GARD:0003557|UMLS:C1842679|MESH:C564303 https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome owl:Class MONDO:0100354 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 1 tmpte7i6ely_mondo_relaxed.owl megacystis microcolon intestinal hypoperistalsis syndrome|megacystis, microcolon, hypoperistalsis syndrome|megacystis, microcolon, intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|Berdon syndrome|MMIH syndrome|MMIHS|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome UMLS:C1608393|GARD:0003442|UMLS:C1835084|ICD10:Q43.8|NCIT:C98982|MESH:C536138|SCTID:253781004|Orphanet:2241|Orphanet:2604|UMLS:C0266833|DOID:0060610|OMIM:249210 http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:33543 biolink:NamedThing sulfonate The sulfur oxoanion formed by deprotonation of sulfonic acid. tmpte7i6ely_mondo_relaxed.owl hydridotrioxidosulfate(1-)|SHO3(-)|sulfonates|[SHO3](-) owl:Class MONDO:0012448 biolink:NamedThing hereditary spastic paraplegia 33 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene. tmpte7i6ely_mondo_relaxed.owl ZFYVE27 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 33|hereditary spastic paraplegia caused by mutation in ZFYVE27|SPG33|spastic paraplegia 33, autosomal dominant|hereditary spastic paraplegia type 33 DOID:0110784|OMIM:610244|MESH:C565214|UMLS:C1853251 owl:Class MONDO:0008773 biolink:NamedThing amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis tmpte7i6ely_mondo_relaxed.owl amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis UMLS:C1859818|GARD:0000763|OMIM:204730|MESH:C565960 https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis owl:Class MONDO:0008254 biolink:NamedThing platelet disorder, undefined tmpte7i6ely_mondo_relaxed.owl platelet disorder, undefined OMIM:173420|MESH:C566799|UMLS:C1868258 owl:Class MONDO:0002370 biolink:NamedThing ovarian Brenner tumor A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature. tmpte7i6ely_mondo_relaxed.owl benign ovarian Brenner tumor|ovarian Brenner tumor|ovary Brenner tumor|Brenner tumor of the ovary|Brenner neoplasm of ovary|Brenner neoplasm of the ovary|Brenner tumor of ovary|Brenner tumor|ovarian Brenner neoplasm DOID:2636|NCIT:C3872|GARD:0009397|NCIT:C39954|EFO:1000112|MESH:D001948|SCTID:254859006 owl:Class MONDO:0003272 biolink:NamedThing mixed epithelial stromal tumor tmpte7i6ely_mondo_relaxed.owl mixed epithelial stromal tumour DOID:5088 owl:Class MONDO:0016239 biolink:NamedThing cystinosis Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. tmpte7i6ely_mondo_relaxed.owl cystine disease|Cystinoses|cystine storage disease|cystinosis|cystine diathesis|Protein defect of cystin transport ICD10:E72.04|OMIM:219750|UMLS:CN035091|OMIM:219800|MESH:D003554|SCTID:190681003|NCIT:C2976|MedDRA:10011777|UMLS:C0010690|DOID:1064|ICD10:E72.0|OMIM:219900|GARD:0006236|Orphanet:213 https://rarediseases.info.nih.gov/diseases/6236/cystinosis owl:Class MONDO:0012609 biolink:NamedThing Alzheimer disease 12 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. tmpte7i6ely_mondo_relaxed.owl Alzheimer's disease type 12|Alzheimer disease, familial, 12|Alzheimer disease familial 12|Ad12|Alzheimer disease type 12|AD12|Alzheimer's disease 12|Alzheimer disease 12 Orphanet:1020|ICD10:G30|OMIM:611073|DOID:0110045|MESH:C567022|UMLS:C1970209 owl:Class MONDO:0011672 biolink:NamedThing persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. tmpte7i6ely_mondo_relaxed.owl persistent polyclonal B-cell lymphocytosis|persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|PPBL SCTID:763864008|Orphanet:300324|MESH:C564707|UMLS:C1847973|ICD10:I72.8|OMIM:606445 owl:Class MONDO:0015731 biolink:NamedThing high anorectal malformation High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence. tmpte7i6ely_mondo_relaxed.owl ICD10:Q42.0|Orphanet:171201|ICD9:751.5|ICD10:Q42.1|SCTID:253771003 owl:Class MONDO:0018916 biolink:NamedThing isolated anorectal malformation Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls. tmpte7i6ely_mondo_relaxed.owl nonsyndromic anorectal malformation OMIM:301800|OMIM:207500|MESH:C537771|ICD10:Q42.0|OMIM:107100|ICD10:Q42.3|ICD10:Q42.1|Orphanet:557|ICD10:Q42.2 owl:Class MONDO:0003310 biolink:NamedThing Monckeberg arteriosclerosis A type of arteriosclerosis in which calcification of the tunica media is the predominant feature. tmpte7i6ely_mondo_relaxed.owl Mönckeberg arteriosclerosis UMLS:C0887866|NCIT:C35770|DOID:5161 owl:Class MONDO:0000282 biolink:NamedThing Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations. tmpte7i6ely_mondo_relaxed.owl DOID:0050199 owl:Class MONDO:0003067 biolink:NamedThing cervical lymphadenitis Inflammation of the cervical lymph nodes. tmpte7i6ely_mondo_relaxed.owl lymphadenitis (disease) of neck|cervical adenitis|neck lymphadenitis (disease) SCTID:3502005|DOID:4637|UMLS:C0149642|NCIT:C26937 owl:Class MONDO:0019541 biolink:NamedThing non-infectious posterior uveitis tmpte7i6ely_mondo_relaxed.owl non-infectious choroiditis Orphanet:90061|ICD10:H30.0|ICD10:H30.1 owl:Class ECTO:9001822 biolink:NamedThing exposure to antagonist An exposure to antagonist. tmpte7i6ely_mondo_relaxed.owl exposure to antagonist owl:Class MONDO:0017569 biolink:NamedThing de Barsy syndrome A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. tmpte7i6ely_mondo_relaxed.owl De Barsy syndrome|progeroid syndrome, De Barsy type|cutis laxa growth deficiency syndrome|corneal clouding, cutis laxa and mental retardation|progeroid syndrome, de Barsy type|corneal clouding, cutis laxa and intellectual disability|progeroid syndrome of de Barsy|autosomal recessive cutis laxa type III|cutis laxa-corneal clouding-intellectual disability syndrome OMIM:219150|GARD:0000049|GARD:49|Orphanet:2962|SCTID:238826008|OMIM:614438|ICD10:Q87.8|DOID:0070143|MESH:C535990|PMID:18388779|SCTID:59252009 owl:Class MONDO:0002469 biolink:NamedThing lacrimal gland carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl lacrimal gland malignant mixed neoplasm|carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed tumor of lacrimal gland|lacrimal gland malignant mixed tumor|malignant mixed neoplasm of lacrimal gland|mixed lacrimal gland cancer|carcinoma ex pleomorphic adenoma of lacrimal gland|malignant mixed tumor of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|malignant mixed neoplasm of the lacrimal gland|carcinoma ex pleomorphic adenoma of the lacrimal gland DOID:296|NCIT:C6804|UMLS:C0346342|SCTID:254989000 MONDO:0021278 owl:Class MONDO:0002413 biolink:NamedThing glycogen storage disease I Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. tmpte7i6ely_mondo_relaxed.owl GSD due to G6P deficiency|hepatorenal glycogenosis|GSD1|glycogenosis type 1|glycogen storage disease I|GSD type 1|GSD type I|glycogen storage disease due to glucose-6-phosphatase deficiency|von Gierke's disease|deficiency of glucose-6-phosphatase|glycogen storage disease due to G6P deficiency|glycogenosis type I|G6P deficiency|von Gierke disease|glycogen storage disease type 1|glycogen storage disease, type I|glycogen storage disease type I DOID:2749|OMIM:232240|NCIT:C84733|OMIM:232200|UMLS:C2919796|ICD10:E74.0|MESH:D005953|MedDRA:10018464|SCTID:7265005|OMIM:232220|Orphanet:364|ICD10:E74.01 MONDO:0018220 owl:Class HGNC:22947 biolink:NamedThing NLRP7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015131 biolink:NamedThing combined immunodeficiency A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. tmpte7i6ely_mondo_relaxed.owl X-linked combined immunodeficiency|congenital combined immunodeficiency|combined T cell and B cell immunodeficiency|CID|combined immunodeficiency|combined T and B cell immunodeficiency OMIM:312863|Orphanet:101972|ICD10:D81.1|ICD9:279.2|ICD10:D81.3|ICD10:D81.0|ICD10:D81|ICD10:D81.7|ICD10:D81.6|ICD10:D81.2|ICD10:D81.8|ICD10:D81.5|NCIT:C27871|ICD10:D81.4|UMLS:C0494261|DOID:628|ICD10:D81.9 owl:Class MONDO:0014918 biolink:NamedThing tall stature-intellectual disability-renal anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Thauvin-robinet-Faivre syndrome|TROFAS|THAUVIN-robinet-Faivre syndrome OMIM:617107|Orphanet:500095|UMLS:C4310715 owl:Class MONDO:0032849 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies tmpte7i6ely_mondo_relaxed.owl NEDSOSB|NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES OMIM:618651 owl:Class MONDO:0040675 biolink:NamedThing myofibroblastoma A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. tmpte7i6ely_mondo_relaxed.owl myofibroblastoma NCIT:C49012|ICDO:8825/0 owl:Class MONDO:0000946 biolink:NamedThing psychologic vaginismus Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. tmpte7i6ely_mondo_relaxed.owl functional vaginismus|psychogenic vaginismus|non-organic vaginismus ICD9:306.51|DOID:10131|NCIT:C35113|ICD10:F52.5|SCTID:71787009 owl:Class MONDO:0020682 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type, 1 tmpte7i6ely_mondo_relaxed.owl proteodermatan sulfate, defective biosynthesis of|PDS, defective biosynthesis of|galactosyltransferase 1 deficiency|Ehlers-Danlos syndrome with Short stature and Limb anomalies|Ehlers-Danlos syndrome, progeroid type, 1, formerly|EDSSPD1|Ehlers-Danlos syndrome, spondylodysplastic type, 1|XGPT deficiency|xylosylprotein 4-Beta-galactosyltransferase deficiency|Ehlers-Danlos syndrome, progeroid type 1|Ehlers-Danlos syndrome, progeroid type, 1|dermatan sulfate proteoglycan OMIM:130070 https://github.com/monarch-initiative/mondo/issues/4025 owl:Class MONDO:0009229 biolink:NamedThing hyaline fibromatosis syndrome tmpte7i6ely_mondo_relaxed.owl hyalinosis, systemic|infantile systemic hyalinosis (former subtype)|juvenile hyaline fibromatosis (former subtype)|inherited systemic hyalinosis|HFS|hyaline fibromatosis syndrome OMIM:228600|UMLS:C2745948|Orphanet:498474|GARD:0006807|DOID:0111669|Orphanet:2028 owl:Class MONDO:0037254 biolink:NamedThing transitional cell neoplasm tmpte7i6ely_mondo_relaxed.owl transitional cell tumor|transitional cell neoplasm UMLS:C0334265|NCIT:C6783 owl:Class MONDO:0014010 biolink:NamedThing autosomal recessive congenital ichthyosis 9 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene. tmpte7i6ely_mondo_relaxed.owl ARCI9|autosomal recessive congenital ichthyosis type 9|ichthyosis, congenital, autosomal recessive 9|autosomal recessive congenital ichthyosis 9|ichthyosis, congenital, autosomal recessive type 9 Orphanet:79394|UMLS:C3554349|DOID:0060718|ICD10:Q80.2|OMIM:615023 owl:Class MONDO:0032742 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9|IIAE9 OMIM:618426 owl:Class NCBITaxon:10379 biolink:NamedThing Rhadinovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004830 biolink:NamedThing fasciitis Inflammation process in fascia. tmpte7i6ely_mondo_relaxed.owl fasciitis|inflammation of fascia|fasciitis (disease)|fascia inflammation|Fascitis fasciitis (disease) ICD10:M72.9|SCTID:36948007|MESH:D005208|HP:0100537|NCIT:C50559|DOID:9598|UMLS:C0015645|ICD9:729.4 owl:Class MONDO:0000510 biolink:NamedThing synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] tmpte7i6ely_mondo_relaxed.owl alpha synucleinopathies|synucleinopathies UMLS:C5191670|DOID:0050890|MESH:D000080874 owl:Class HP:0100511 biolink:NamedThing Abnormality of vitamin D metabolism tmpte7i6ely_mondo_relaxed.owl Abnormality of vitamin D metabolism UMLS:C4022035 doelkens 2010-12-17T06:19:15Z human_phenotype owl:Class MONDO:0007079 biolink:NamedThing alcohol dependence Physical and psychological dependence on alcohol. tmpte7i6ely_mondo_relaxed.owl alcoholism|alcohol dependence|Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|alcohol dependence, protection against KEGG:05034|SCTID:66590003|ICD9:305.0|ICD9:303.90|DOID:0050741|EFO:0003829|NCIT:C93040|OMIM:103780 owl:Class MONDO:0006509 biolink:NamedThing papillary carcinoma A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. tmpte7i6ely_mondo_relaxed.owl papillary carcinoma (morphologic abnormality)|papillary carcinoma|papillary carcinoma NOS (morphologic abnormality) ICDO:8050/3|MESH:D002291|EFO:1000646|UMLS:C0007133|DOID:3113|NCIT:C2927 owl:Class MONDO:0000766 biolink:NamedThing corneal endothelial dystrophy A corneal dystrophy (disease) that involves the corneal epithelium. tmpte7i6ely_mondo_relaxed.owl corneal epithelium corneal dystrophy (disease)|corneal dystrophy (disease) of corneal epithelium|endothelial dystrophy ICD9:371.57|SCTID:416960004|DOID:0060443 owl:Class MONDO:0010177 biolink:NamedThing vascular hyalinosis A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage. tmpte7i6ely_mondo_relaxed.owl vascular hyalinosis|Rambaud-Gallian-Touchard syndrome|retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome|Rambaud-Gallian syndrome|digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a ICD10:E78.8|GARD:0004635|MESH:C564750|OMIM:277175|Orphanet:3018 https://github.com/monarch-initiative/mondo/issues/3607 owl:Class HGNC:11776 biolink:NamedThing TGIF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001249 biolink:NamedThing trachoma A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. tmpte7i6ely_mondo_relaxed.owl active stage trachoma|trachoma dubium GARD:0010374|SCTID:2576002|ICD9:076.9|ICD10:A71.1|ICD9:076.0|DOID:11265|ICD9:076|ICD9:076.1|ICD10:A71.0|UMLS:C0040592|MESH:D014141|ICD10:A71.9|ICD10:A71 https://rarediseases.info.nih.gov/diseases/10374/trachoma owl:Class MONDO:0022965 biolink:NamedThing desmoplastic infantile ganglioglioma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl Desmoplastic infantile ganglioglioma|DIG UMLS:C1321878|NCIT:C4738|ONCOTREE:DIG|GARD:0008648 https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma owl:Class UBERON:0004148 biolink:NamedThing cardiac vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012782 biolink:NamedThing celiac disease, susceptibility to, 13 tmpte7i6ely_mondo_relaxed.owl CELIAC13|gluten-sensitive enteropathy, susceptibility to, 13|celiac disease, susceptibility to, 13 OMIM:612011 owl:Class MONDO:0006288 biolink:NamedThing malignant adrenal gland pheochromocytoma A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl malignant adrenal gland pheochromocytoma|pheochromoblastoma|malignant adrenal gland chromaffin paraganglioma|malignant adrenal pheochromocytoma|malignant adrenal medullary pheochromocytoma|adrenal gland pheochromocytoma, malignant|malignant adrenal gland chromaffin neoplasm|malignant adrenal gland paraganglioma|malignant adrenal medullary paraganglioma|malignant adrenal gland Chromaffinoma|pheochromocytoma, malignant|malignant pheochromocytoma|malignant adrenal gland chromaffin tumor UMLS:C0334419|NCIT:C4220|DOID:0080347|EFO:1000348|SCTID:21851000119103|ICDO:8700/3 owl:Class HGNC:24872 biolink:NamedThing GNAS-AS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016141 biolink:NamedThing qualitative or quantitative defects of alpha-sarcoglycan tmpte7i6ely_mondo_relaxed.owl alpha-sarcoglycanopathy Orphanet:207060 owl:Class GO:1904171 biolink:NamedThing negative regulation of bleb assembly Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. tmpte7i6ely_mondo_relaxed.owl down-regulation of bleb assembly|negative regulation of cell blebbing|downregulation of cell blebbing|down regulation of cell blebbing|inhibition of bleb assembly|down-regulation of cell blebbing|down regulation of bleb assembly|downregulation of bleb assembly|inhibition of cell blebbing owl:Class MONDO:0043193 biolink:NamedThing richieri-costa guion-almeida cohen syndrome tmpte7i6ely_mondo_relaxed.owl acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri Costa Guion-Almeida dwarfism|overgrowth - craniosynostosis - arthrogryposis|Richieri-costa Guion-Almeida Cohen syndrome GARD:0004712|MESH:C535676|UMLS:C2930979 owl:Class MONDO:0015090 biolink:NamedThing autosomal recessive pure spastic paraplegia Autosomal recessive form of pure hereditary spastic paraplegia. tmpte7i6ely_mondo_relaxed.owl autosomal recessive uncomplicated HSP|autosomal recessive pure HSP|pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive pure hereditary spastic paraplegia|autosomal recessive uncomplicated SPG|autosomal recessive pure SPG|autosomal recessive uncomplicated spastic paraplegia Orphanet:100982|UMLS:CN228910|ICD10:G11.4 owl:Class NCBITaxon:28845 biolink:NamedThing Dibothriocephalus dendriticus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013407 biolink:NamedThing retinitis pigmentosa 47 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 47|SAG retinitis pigmentosa|retinitis pigmentosa caused by mutation in SAG|RP47|retinitis pigmentosa type 47 OMIM:613758|DOID:0110369|UMLS:C3151061|ICD10:H35.5 owl:Class MONDO:0030705 biolink:NamedThing Trichomonas prostatitis Infection of the prostate gland caused by Trichomonas vaginalis. tmpte7i6ely_mondo_relaxed.owl Trichomonas vaginalis caused prostatitis (disease)|trichomonal prostatitis|Trichomonas prostatitis|Trichomonas vaginalis prostatitis (disease) UMLS:C0153315|SCTID:71590000|NCIT:C35176|ICD9:131.03 owl:Class MONDO:0003417 biolink:NamedThing internuclear ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl ICD9:378.86|DOID:538|UMLS:C0152134|ICD10:H51.2|SCTID:49823009 owl:Class MONDO:0007296 biolink:NamedThing spinocerebellar ataxia type 31 Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 16q22-linked|SCA31|spinocerebellar ataxia, 16Q22-linked|spinocerebellar ataxia type 31|spinocerebellar ataxia 31 ICD10:G11.8|GARD:0009975|UMLS:C1861736|UMLS:C4274986|DOID:0050980|SCTID:715826005|Orphanet:217012|OMIM:117210|MESH:C566146 owl:Class MONDO:0060662 biolink:NamedThing Diamond-Blackfan anemia-like tmpte7i6ely_mondo_relaxed.owl DBAL|Diamond-Blackfan anemia-like OMIM:617911|UMLS:CN873436 owl:Class MONDO:0020545 biolink:NamedThing staphylococcal toxic-shock syndrome Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection. tmpte7i6ely_mondo_relaxed.owl Staphylococcus caused toxic shock syndrome|Staphylococcus toxic shock syndrome|staphylococcal TSS SCTID:240450004|ICD9:040.89|MedDRA:10044250|ICD10:A48.3|Orphanet:99919 owl:Class HP:0005832 biolink:NamedThing Dysharmonic delayed bone age A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. tmpte7i6ely_mondo_relaxed.owl UMLS:C1859444 HP:0005840 human_phenotype owl:Class HP:0002750 biolink:NamedThing Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. tmpte7i6ely_mondo_relaxed.owl Delayed bone age|Delayed bone age before puberty|Delayed bone maturation|Retarded bone age|Retarded ossification|Skeletal maturation retardation|Delayed skeletal development SNOMEDCT_US:123983008|UMLS:C0541764 HP:0002806|HP:0000928 human_phenotype owl:Class UBERON:0004701 biolink:NamedThing venous system endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014907 biolink:NamedThing short-rib thoracic dysplasia 15 with polydactyly tmpte7i6ely_mondo_relaxed.owl short-rib thoracic dysplasia 15 with polydactyly; SRTD15|SRTD15|short-rib thoracic dysplasia 15 with polydactyly OMIM:617088|UMLS:C4310724 owl:Class MONDO:0007793 biolink:NamedThing hypochondroplasia Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. tmpte7i6ely_mondo_relaxed.owl HCH|hypochondroplasia ICD10:Q77.4|ICD9:756.9|DOID:0080041|GARD:0006724|OMIM:146000|SCTID:205468002|UMLS:C0410529|MedDRA:10020967|NCIT:C118697|Orphanet:429|MESH:C562937 https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia owl:Class MONDO:0007400 biolink:NamedThing Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. tmpte7i6ely_mondo_relaxed.owl JWS|craniosynostosis, midfacial hypoplasia, and foot abnormalities|craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|Jackson-Weiss syndrome ICD9:759.89|Orphanet:1540|DOID:0111337|GARD:0006796|UMLS:C0795998|OMIM:123150|MESH:C537559|SCTID:709105005|ICD10:Q87.8|NCIT:C123814 https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome owl:Class MONDO:0011202 biolink:NamedThing RHYNS syndrome RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. tmpte7i6ely_mondo_relaxed.owl RHYNS syndrome|retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|retinitis pigmentosa syndrome|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome SCTID:723999009|UMLS:C1865794|MESH:C537612|GARD:0009681|Orphanet:140976|OMIM:602152 owl:Class PATO:0001689 biolink:NamedThing decreased elevation An elevation which is relatively low. tmpte7i6ely_mondo_relaxed.owl low elevation owl:Class PATO:0001476 biolink:NamedThing decreased position A positional which is relatively low. tmpte7i6ely_mondo_relaxed.owl low position owl:Class MONDO:0007832 biolink:NamedThing interferon antiviral depressor tmpte7i6ely_mondo_relaxed.owl interferon antiviral depressor OMIM:147560 owl:Class MONDO:0022716 biolink:NamedThing Chiari malformation type 4 tmpte7i6ely_mondo_relaxed.owl Arnold Chiari malformation type IV|Chiari malformation type IV|Chiari type IV malformation SCTID:253187005|OMIM:118420|GARD:0009234 https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4 owl:Class UBERON:0036072 biolink:NamedThing respiratory primordium epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013857 biolink:NamedThing alar cleft, isolated tmpte7i6ely_mondo_relaxed.owl alar cleft, isolated OMIM:614687|UMLS:C3553476 owl:Class NCBITaxon:286 biolink:NamedThing Pseudomonas tmpte7i6ely_mondo_relaxed.owl Loefflerella|Liquidomonas|RNA similarity group I|"Chlorobacterium" Guillebeau 1890, nom. rejic. Opin. 6 (not "Chlorobacterium" Lauterborn 1916) PMID:7727274|PMID:10939664|PMID:18048745|PMID:10758879|PMID:15950132|PMID:23918787|GC_ID:11|PMID:9103607 NCBITaxon:212745 ncbi_taxonomy owl:Class MONDO:0011024 biolink:NamedThing dermatitis herpetiformis, familial Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone. tmpte7i6ely_mondo_relaxed.owl DH|Duhring Brocq disease|dermatitis herpetiformis, familial|Duhring's disease|Brocq-Duhring disease|hereditary dermatitis herpetiformis GARD:0001917|OMIM:601230|UMLS:C1832586|Orphanet:1656|UMLS:C0011608|MESH:C538218 https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis owl:Class MONDO:0015614 biolink:NamedThing dermatitis herpetiformis Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. tmpte7i6ely_mondo_relaxed.owl dermatitis herpetiformis|Durhing-Brocq disease|Duhring's disease|dermatosis herpetiformis NCIT:C26742|MedDRA:10012468|SCTID:111196000|ICD10:L13.0|OMIM:601230|Wikipedia:Dermatitis_herpetiformis|ICD9:694.0|Orphanet:1656|UMLS:C0011608|MESH:D003874|EFO:1000684|DOID:8505 owl:Class MONDO:0700031 biolink:NamedThing mosaic trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0032745 biolink:NamedThing developmental delay with variable intellectual impairment and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl DDVIBA|DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|developmental delay with variable intellectual impairment and behavioral abnormalities OMIM:618430 owl:Class UBERON:0011141 biolink:NamedThing appendicular ossicle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4912 biolink:NamedThing HINT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002124 biolink:NamedThing secondary lacrimal atrophy tmpte7i6ely_mondo_relaxed.owl secondary lacrimal atrophy|consecutive atrophy of lacrimal gland|secondary atrophy of lacrimal gland ICD9:375.14|ICD10:H04.15|DOID:1822|SCTID:75068001 owl:Class HGNC:11851 biolink:NamedThing TLR5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009539 biolink:NamedThing mesenchyme of submandibular gland primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013747 biolink:NamedThing atrioventricular septal defect 4 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpte7i6ely_mondo_relaxed.owl GATA4 atrioventricular septal defect|atrioventricular septal defect type 4|AVSD4|atrioventricular septal defect caused by mutation in GATA4|atrioventricular septal defect 4 Orphanet:98722|UMLS:C3280781|OMIM:614430 owl:Class MONDO:0001666 biolink:NamedThing retinal dystrophies primarily involving Bruch's membrane A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation. tmpte7i6ely_mondo_relaxed.owl Bruch's membrane inherited retinal dystrophy|inherited retinal dystrophy of Bruch's membrane|retinal dystrophies primarily involving Bruch membrane DOID:13227|ICD9:362.77 Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping owl:Class GO:0051148 biolink:NamedThing negative regulation of muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of muscle cell differentiation|inhibition of muscle cell differentiation|down-regulation of muscle cell differentiation|downregulation of muscle cell differentiation owl:Class HP:0000549 biolink:NamedThing Abnormal conjugate eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. tmpte7i6ely_mondo_relaxed.owl Disconjugate eye movements UMLS:C1845274 human_phenotype owl:Class HP:0000496 biolink:NamedThing Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control. tmpte7i6ely_mondo_relaxed.owl Eye movement abnormalities|Abnormal movement of the globe of the eye|Abnormality of eye movement|Abnormal ocular movements|Abnormal eye movement|Abnormal motility of the globe of the eye|Eye movement issue|Abnormal eye motility|Ocular movement abnormalities|Abnormal extraocular movements|Abnormal eye movements|Oculomotor abnormalities|Abnormal extraocular movement UMLS:C0497202|SNOMEDCT_US:103252009 HP:0006860 human_phenotype owl:Class GO:0090030 biolink:NamedThing regulation of steroid hormone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007373 biolink:NamedThing inferior surface of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001009 biolink:NamedThing solitary cyst of breast A single, fluid-filled cyst in the breast parenchyma. tmpte7i6ely_mondo_relaxed.owl solitary cyst of breast|solitary cyst of the breast ICD9:610.0|ICD10:N60.09|NCIT:C3378|ICD10:N60.0|DOID:10349|SCTID:266578003 owl:Class MONDO:0001011 biolink:NamedThing breast cyst A cystic lesion located in breast tissue. tmpte7i6ely_mondo_relaxed.owl cyst of the breast ICD10:N60.0|EFO:1000848|SCTID:399294002|MESH:D047688|NCIT:C5315|DOID:10350 owl:Class HP:0011297 biolink:NamedThing Abnormal digit morphology A morphological abnormality of a digit, i.e., of a finger or toe. tmpte7i6ely_mondo_relaxed.owl Abnormality of fingers or toes|Digital anomalies|Abnormality of digit UMLS:C3550704 peter 2012-02-11T07:16:22Z human_phenotype owl:Class HGNC:6174 biolink:NamedThing ITM2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016582 biolink:NamedThing congenital mitral malformation tmpte7i6ely_mondo_relaxed.owl GARD:0001495|Orphanet:2447 https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation owl:Class PATO:0001543 biolink:NamedThing flexibility A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018302 biolink:NamedThing acquired kinky hair syndrome Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected. tmpte7i6ely_mondo_relaxed.owl ICD10:L67.8|Orphanet:37559|UMLS:CN204889 owl:Class HGNC:20407 biolink:NamedThing CALR3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010992 biolink:NamedThing Ayme-Gripp syndrome tmpte7i6ely_mondo_relaxed.owl cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation|AYGRP|Ayme-Gripp syndrome|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability|AYME-Gripp syndrome|Aymé-Gripp syndrome UMLS:C1832812|Orphanet:477668|OMIM:601088|DOID:0111688|MESH:C563390|EFO:0009020 owl:Class GO:0099111 biolink:NamedThing microtubule-based transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014932 biolink:NamedThing orofaciodigital syndrome XV tmpte7i6ely_mondo_relaxed.owl Ofds 15|orofaciodigital syndrome type XV|orofaciodigital syndrome XV|orofaciodigital syndrome 15|OFD15|oral-Facial-digital syndrome, type 15 OMIM:617127|UMLS:C4310701 owl:Class NCBITaxon:59140 biolink:NamedThing Myzomyia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:132153 biolink:NamedThing hyaluronate A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl hyaluronan|hyaluronate polyanion owl:Class MONDO:0054867 biolink:NamedThing paraomphalocele tmpte7i6ely_mondo_relaxed.owl Paraomphalocele, hypogastric|Paraomphalocele, epigastric MESH:C537170 owl:Class MONDO:0009264 biolink:NamedThing gastroschisis Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated. tmpte7i6ely_mondo_relaxed.owl eventration|gastroschisis|abdominal wall defects|laparoschisis|congenital fissure of the abdominal cavity OMIM:230750|MESH:D020139|DOID:11044|ICD9:756.73|ICD10:Q79.3|SCTID:72951007|EFO:1000949|GARD:0008661|UMLS:C0265706|NCIT:C84725|Orphanet:2368|MedDRA:10018046 https://rarediseases.info.nih.gov/diseases/8661/gastroschisis owl:Class MONDO:0015837 biolink:NamedThing Unicervical bicornuate uterus tmpte7i6ely_mondo_relaxed.owl ICD10:Q51.3|Orphanet:180114 owl:Class HP:0001911 biolink:NamedThing Abnormal granulocyte morphology Any structural abnormality or abnormal count of granulocytes. tmpte7i6ely_mondo_relaxed.owl Abnormality of granulocytes UMLS:C0427515|SNOMEDCT_US:250274006 HP:0005438 human_phenotype owl:Class MONDO:0044921 biolink:NamedThing atypical lymphoproliferative disorder tmpte7i6ely_mondo_relaxed.owl atypical lymphoid hyperplasia|atypical lymphoproliferative disorder NCIT:C7764|UMLS:C0272217|SCTID:20991001 owl:Class NCBITaxon:33259 biolink:NamedThing Toxocaridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001510 biolink:NamedThing skin of knee tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001511 biolink:NamedThing skin of leg tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004043 biolink:NamedThing ureter inverted papilloma A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. tmpte7i6ely_mondo_relaxed.owl ureteral inverted papilloma|inverted papilloma of ureter|ureter inverted papilloma|inverted papilloma of the ureter UMLS:C1336874|DOID:6935|NCIT:C6174 owl:Class MONDO:0006186 biolink:NamedThing duodenal adenocarcinoma A carcinoma that arises from glandular epithelial cells of the duodenum. tmpte7i6ely_mondo_relaxed.owl duodenal adenocarcinoma|adenocarcinoma of the duodenum|duodenum adenocarcinoma|adenocarcinoma of duodenum SCTID:408644002|UMLS:C0278804|ONCOTREE:DA|EFO:1000223|NCIT:C7889|DOID:10816 owl:Class MONDO:0003198 biolink:NamedThing small intestine adenocarcinoma An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. tmpte7i6ely_mondo_relaxed.owl small intestine adenocarcinoma|small intestinal adenocarcinoma|adenocarcinoma of the small intestine|adenocarcinoma of the small instestine|adenocarcinoma - small intest.|adenocarcinoma of the small bowel|adenocarcinoma of small instestine|adenocarcinoma of small bowel|small bowel adenocarcinoma|adenocarcinoma of small intestine Orphanet:104075|SCTID:424440001|DOID:4906|NCIT:C7888|ICD10:D01.4|EFO:1000532|UMLS:C0278803|GARD:0013090 owl:Class MONDO:0005160 biolink:NamedThing aortic aneurysm A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. tmpte7i6ely_mondo_relaxed.owl ruptured thoracoabdominal aortic aneurysm|aortic aneurysm|aortic aneurysm (disease)|aortic aneurysm of unspecified site, ruptured|thoracic aortic aneurysm, ruptured|ruptured thoracic aortic aneurysm|ruptured abdominal aortic aneurysm|thoracoabdominal aortic aneurysm, ruptured|ruptured aortic aneurysm|ruptured thoracic aneurysm|thoracic aortic aneurysm which HAS ruptured|abdominal aortic aneurysm, ruptured aortic aneurysm (disease) UMLS:C0741160|UMLS:C0265012|ICD10:I71.3|ICD9:441.6|NCIT:C27198|UMLS:C0265010|ICD9:441.5|EFO:0001666|MP:0006278|SCTID:73067008|ICD10:I71.9|OMIM:607086|DOID:3627|NCIT:C27299|UMLS:C0003486|NCIT:C27046|HP:0004942|ICD10:I71.1|NCIT:C26697|ICD9:441.3|ICD10:I71.5|ICD10:I71.8|UMLS:C1305122|ICD9:441.1 owl:Class MONDO:0007120 biolink:NamedThing aniridia-absent patella syndrome Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. tmpte7i6ely_mondo_relaxed.owl aniridia absent patella|familial syndrome of aniridia and absence of the patella|aniridia and absent patella UMLS:C1862868|ICD10:Q87.8|MESH:C566281|Orphanet:1069|GARD:0000685|OMIM:106220 https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella owl:Class MONDO:0010410 biolink:NamedThing alopecia, androgenetic, 2 tmpte7i6ely_mondo_relaxed.owl alopecia, androgenetic, 2|AGA2 OMIM:300710|MESH:C567473|UMLS:C2678038 owl:Class GO:0004347 biolink:NamedThing glucose-6-phosphate isomerase activity Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate. tmpte7i6ely_mondo_relaxed.owl phosphohexose isomerase activity|phosphoglucoisomerase activity|phosphohexoisomerase activity|phosphohexomutase activity|oxoisomerase activity|hexosephosphate isomerase activity|phosphoglucose isomerase activity|D-glucose-6-phosphate aldose-ketose-isomerase activity|hexose phosphate isomerase activity|hexose monophosphate isomerase activity|phosphosaccharomutase activity|D-glucose-6-phosphate ketol-isomerase activity|glucose phosphate isomerase activity owl:Class GO:0016861 biolink:NamedThing intramolecular oxidoreductase activity, interconverting aldoses and ketoses Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears. tmpte7i6ely_mondo_relaxed.owl intramolecular isomerase activity, interconverting aldoses and ketoses owl:Class MONDO:0003040 biolink:NamedThing retrograde amnesia The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected. tmpte7i6ely_mondo_relaxed.owl MESH:D000648|ICD10:R41.2|DOID:4543|NCIT:C34372 owl:Class MONDO:0020830 biolink:NamedThing diaphragmitis tmpte7i6ely_mondo_relaxed.owl diaphragmatitis|diaphragmitis EFO:0000937|SCTID:73160007|UMLS:C0011985 owl:Class MONDO:0017379 biolink:NamedThing polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. tmpte7i6ely_mondo_relaxed.owl polyneuropathy intellectual disability acromicria premature menopause|polyneuropathy mental retardation acromicria premature menopause|Lundberg syndrome|polyneuropathy - intellectual deficit - acromicria - premature menopause GARD:0004424|ICD10:Q87.8|Orphanet:2928|UMLS:CN203094 Editor note: awaiting HPO owl:Class CHEBI:76206 biolink:NamedThing xenobiotic metabolite Any metabolite produced by metabolism of a xenobiotic compound. tmpte7i6ely_mondo_relaxed.owl xenobiotic metabolites owl:Class GO:1903509 biolink:NamedThing liposaccharide metabolic process The chemical reactions and pathways involving liposaccharide. tmpte7i6ely_mondo_relaxed.owl liposaccharide metabolism owl:Class UBERON:0011252 biolink:NamedThing scent gland tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3337 biolink:NamedThing ADGRE2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003356 biolink:NamedThing epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpte7i6ely_mondo_relaxed.owl epithelioid leiomyosarcoma MESH:D007890|UMLS:C0205815|ICDO:8891/3|NCIT:C3700|DOID:5264 owl:Class HGNC:10031 biolink:NamedThing RMRP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014128 biolink:NamedThing TCF12-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene. tmpte7i6ely_mondo_relaxed.owl TCF12-related craniosynostosis|CRS3|craniosynostosis type 3|TCF12 craniosynostosis|craniosynostosis 3|craniosynostosis caused by mutation in TCF12 UMLS:C3715051|OMIM:615314|Orphanet:35099|Orphanet:35098 https://github.com/monarch-initiative/mondo/issues/2657 owl:Class HGNC:6562 biolink:NamedThing LGALS2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006812 biolink:NamedThing cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl trivalent inorganic cation transport|di-, tri-valent inorganic cation transport owl:Class MONDO:0000257 biolink:NamedThing acute diarrhea Acute form of diarrhea. tmpte7i6ely_mondo_relaxed.owl diarrhea (disease), acute|diarrhea, acute|diarrheal disease, acute|acute diarrheal disease DOID:0050140|SCTID:409966000|UMLS:C0740441 owl:Class NCBITaxon:1789 biolink:NamedThing Mycobacterium xenopi tmpte7i6ely_mondo_relaxed.owl Mycobacterium xenopei|Mycobacterium xenopi Schwabacher 1959 (Approved Lists) emend. Nouioui et al. 2018 PMID:30186281|GC_ID:11|PMID:13641655 ncbi_taxonomy owl:Class MONDO:0000748 biolink:NamedThing mastoiditis Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. tmpte7i6ely_mondo_relaxed.owl mastoiditis|mastoid process of temporal boneitis|inflammation of mastoid process of temporal bone|mastoid process of temporal bone inflammation|mastoiditis (disease) mastoiditis (disease) ICD9:383.9|SCTID:52404001|UMLS:C0024904|DOID:0060322|ICD10:H70.90|NCIT:C128368|HP:0000265|ICD10:H70.9|MESH:D008417 owl:Class UBERON:0001996 biolink:NamedThing elastic cartilage tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006056 biolink:NamedThing posterior surface of head tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014578 biolink:NamedThing congenital myasthenic syndrome 17 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. tmpte7i6ely_mondo_relaxed.owl LRP4 congenital myasthenic syndrome|congenital myasthenic syndrome type 17|myasthenic syndrome, congenital, type 17|myasthenic syndrome, congenital, 17|congenital myasthenic syndrome caused by mutation in LRP4|CMS17 UMLS:C4225377|Orphanet:590|OMIM:616304|DOID:0110674 owl:Class MONDO:0008295 biolink:NamedThing sporadic porphyria cutanea tarda An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl porphyria cutanea tarda, type I|PCT, type 1|porphyria cutanea tarda type I|PCT, 'sporadic' type|porphyria cutanea tarda, type 1|acquired porphyria cutanea tarda SCTID:402479002|UMLS:C1867968|Orphanet:443057|Orphanet:101330|UMLS:C1276127|OMIM:176090|MESH:C566768|ICD10:E80.1 Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial owl:Class ENVO:01001276 biolink:NamedThing water ice layer A solid layer which is primarily composed of some water-based ice. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900132 biolink:NamedThing positive regulation of lipid binding Any process that activates or increases the frequency, rate or extent of lipid binding. tmpte7i6ely_mondo_relaxed.owl up-regulation of lipid binding|up regulation of lipid binding|activation of lipid binding|upregulation of lipid binding owl:Class MONDO:0011299 biolink:NamedThing Huntington disease-like 1 Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene. tmpte7i6ely_mondo_relaxed.owl early-onset prion disease with prominent psychiatric features|neurodegenerative disease with chorea caused by mutation in PRNP|Huntington disease-like type 1|autosomal dominant Huntington-like neurodegenerative disorder|Huntington disease-like 1|PRNP neurodegenerative disease with chorea|Huntington's disease-like 1|HDL1|Huntington-like neurodegenerative disorder, autosomal dominant|prion disease, early-onset, with prominent psychiatric features|HLN1|Huntington-like neurodegenerative disorder 1 OMIM:603218|Orphanet:157941|DOID:0090103|UMLS:C1864112|ICD10:G10|MESH:C566398 owl:Class HGNC:9449 biolink:NamedThing PRNP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010059 biolink:NamedThing hypoglossal cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018674 biolink:NamedThing IgG4-related submandibular gland disease A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones. tmpte7i6ely_mondo_relaxed.owl Küttner tumor|IgG4-related sialadenitis|Kuttner's tumor|Kuttner tumor|chronic sclerosing sialadenitis SCTID:448131008|ICD10:K11.2|Orphanet:449432|NCIT:C82887 Editor note: check this. Unification based on Kuttner tumor synonym owl:Class GO:0071971 biolink:NamedThing extracellular exosome assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. tmpte7i6ely_mondo_relaxed.owl extracellular vesicular exosome assembly owl:Class HP:0000405 biolink:NamedThing Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. tmpte7i6ely_mondo_relaxed.owl Conduction deafness|Hearing loss, conductive|Conductive hearing loss|Conductive deafness MSH:D006314|SNOMEDCT_US:44057004|UMLS:C0018777 A conductive hearing impariment with greater than 90 dB loss. HP:0008581|HP:0000367 human_phenotype owl:Class UBERON:0000382 biolink:NamedThing apocrine sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014996 biolink:NamedThing intellectual disability, autosomal recessive 58 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene. tmpte7i6ely_mondo_relaxed.owl ELP2-related disorder|mental retardation, autosomal recessive type 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|mental retardation, autosomal recessive 58|autosomal recessive intellectual disability 58|MRT58|ELP2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 58|intellectual disability, autosomal recessive type 58 UMLS:C4310641|OMIM:617270|GARD:0013361 owl:Class HGNC:18248 biolink:NamedThing ELP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014262 biolink:NamedThing Rienhoff syndrome Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection. tmpte7i6ely_mondo_relaxed.owl Loeys-Dietz syndrome 5|Rienhoff syndrome|Loeys-Dietz syndrome type 5|LDS5 DOID:0070236|EFO:1000012|GARD:0012356|UMLS:C3810012|OMIM:615582 https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome owl:Class MONDO:0003792 biolink:NamedThing ovarian carcinosarcoma A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. tmpte7i6ely_mondo_relaxed.owl ovarian malignant mixed Mullerian neoplasm|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mixed epithelial mesenchymal tumor|ovarian malignant mixed mesodermal Müllerian tumor|ovarian malignant mesodermal (Mullerian) mixed tumor|ovarian malignant mixed mesodermal Müllerian neoplasm|ovarian MMMT|malignant mixed mesodermal Mullerian tumor of the ovary|carcinosarcoma of the ovary|ovarian malignant mixed Mullerian tumor|carcinosarcoma of ovary|malignant mixed mesodermal Mullerian neoplasm of the ovary|malignant mixed mesodermal Müllerian tumor of the ovary|malignant mixed mesodermal Müllerian tumor of ovary|malignant mixed Müllerian tumor of the ovary|ovarian malignant mesodermal (mullerian) mixed tumor|malignant mixed mesodermal Mullerian neoplasm of ovary|ovarian malignant mixed Müllerian neoplasm|ovarian carcinosarcoma/malignant mixed mesodermal tumor|ovary carcinosarcoma|ovarian malignant mixed mesodermal Mullerian neoplasm|MMMT of the ovary|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian malignant mesodermal (Müllerian) mixed tumor|ovarian malignant mixed Müllerian tumor|malignant mixed mesodermal Müllerian neoplasm of ovary|ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian carcinosarcoma|malignant mixed mesodermal Mullerian tumor of ovary|ovarian malignant mixed mesodermal (Müllerian) tumor Orphanet:213512|ONCOTREE:OCS|UMLS:C0392998|ICD10:C56|SCTID:702368000|GARD:0007296|DOID:6170|NCIT:C9192|EFO:1000412 MONDO:0016247 owl:Class OBO:CHR_9606-chr2p16 biolink:NamedThing 2p16 (Human) tmpte7i6ely_mondo_relaxed.owl 61000000 47500000 hg38 owl:Class MONDO:0012719 biolink:NamedThing encephalopathy due to prosaposin deficiency Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. tmpte7i6ely_mondo_relaxed.owl PSAPD|combined prosaposin deficiency|combined SAP deficiency|combined saposin deficiency|combined Sap deficiency|prosaposin deficiency Orphanet:139406|GARD:0012505|UMLS:C2673635|OMIM:611721|SCTID:720864008|MESH:C567125|ICD10:E75.2|DOID:0111330|UMLS:C4303785 https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency owl:Class MONDO:0013405 biolink:NamedThing retinitis pigmentosa 49 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene. tmpte7i6ely_mondo_relaxed.owl RP49|CNGA1 retinitis pigmentosa|retinitis pigmentosa 49|retinitis pigmentosa caused by mutation in CNGA1|retinitis pigmentosa type 49 DOID:0110377|ICD10:H35.5|UMLS:C3151059|OMIM:613756 owl:Class HGNC:2148 biolink:NamedThing CNGA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000983 biolink:NamedThing metatarsus region tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:57977 biolink:NamedThing bilirubin(2-) A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl bilirubin IXalpha|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoate|bilirubin dianion owl:Class HGNC:8772 biolink:NamedThing PDE10A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11021 biolink:NamedThing SLC35A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000808 biolink:NamedThing DN4 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. tmpte7i6ely_mondo_relaxed.owl T.DN4.th|early cortical thymocyte|double negative 4|DN4 immature T cell|DN4 alpha-beta immature T-lymphocyte|DN4 cell|DN4 immature T-cell|DN4 alpha-beta immature T lymphocyte Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. cell owl:Class GO:0043384 biolink:NamedThing pre-T cell receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. tmpte7i6ely_mondo_relaxed.owl pre-T-cell receptor complex|pre-T-lymphocyte receptor complex|pre-TCR complex|pre-T lymphocyte receptor complex owl:Class MONDO:0014242 biolink:NamedThing van Maldergem syndrome 2 Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene. tmpte7i6ely_mondo_relaxed.owl VMLDS2|FAT4 van Maldergem syndrome|van Maldergem syndrome caused by mutation in FAT4|Van Maldergem syndrome type 2|van Maldergem syndrome 2|VAN Maldergem syndrome 2 Orphanet:314679|UMLS:C3809875|DOID:0080586|OMIM:615546 owl:Class HGNC:10820 biolink:NamedThing SH2D1A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001775 biolink:NamedThing cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006807 biolink:NamedThing intestinal perforation A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. tmpte7i6ely_mondo_relaxed.owl perforation of intestine|bowel perforation NCIT:C39611|UMLS:C0021845|ICD10:P78.0|DOID:2074|MESH:D007416|ICD9:777.6|ICD9:569.83|EFO:1000987|MedDRA:10022694|SCTID:56905009 owl:Class GO:0022410 biolink:NamedThing circadian sleep/wake cycle process A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002721 biolink:NamedThing Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. tmpte7i6ely_mondo_relaxed.owl Decreased immune function|Immune deficiency UMLS:C0021051|MSH:D007153|SNOMEDCT_US:234532001 HP:0005362|HP:0005371 human_phenotype owl:Class UBERON:0002343 biolink:NamedThing abdomen musculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011684 biolink:NamedThing vitiligo-associated multiple autoimmune disease susceptibility 1 tmpte7i6ely_mondo_relaxed.owl vitiligo|VAMAS1|vitiligo-associated multiple autoimmune disease susceptibility 1|vitiligo-associated multiple autoimmune disease susceptibility type 1|systemic lupus erythematosus, vitiligo-related OMIM:606579|UMLS:C1847835 owl:Class HGNC:14374 biolink:NamedThing NLRP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014319 biolink:NamedThing renal hypodysplasia/aplasia 2 Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. tmpte7i6ely_mondo_relaxed.owl renal hypodysplasia/aplasia 2|renal hypodysplasia/aplasia type 2|FGF20 renal agenesis (disease)|renal agenesis (disease) caused by mutation in FGF20|RHDA2 OMIM:615721|Orphanet:411709|UMLS:C3810359 owl:Class MONDO:0022538 biolink:NamedThing leukoplakia of gingiva A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis. tmpte7i6ely_mondo_relaxed.owl Leukoplakia of Gingiva|gingival leukoplakia|leukoplakia of gingiva|Gingival Leukoplakia|Leukoplakia of gingiva NCIT:C3881|SCTID:32236000|UMLS:C0239737|ICD9:528.6 owl:Class MONDO:0006394 biolink:NamedThing rectal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl rectal tubular adenoma UMLS:C3272804|EFO:1000504|NCIT:C96477 owl:Class UBERON:0004465 biolink:NamedThing musculature of neck tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009479 biolink:NamedThing ectoderm of buccopharyngeal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006211 biolink:NamedThing buccopharyngeal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:57077 biolink:NamedThing Dicrocoelium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0019315 biolink:NamedThing meibum tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:63248 biolink:NamedThing oxidising agent A substance that removes electrons from another reactant in a redox reaction. tmpte7i6ely_mondo_relaxed.owl oxidants|oxidizer|oxidizing agent|oxidizers|oxidisers|oxidizing agents|oxidiser|oxidising agents|oxidant owl:Class OBO:CHR_9606-chr15q11.2 biolink:NamedThing 15q11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 25500000 20500000 hg38 owl:Class MONDO:0006355 biolink:NamedThing parotid gland acinic cell carcinoma An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area. tmpte7i6ely_mondo_relaxed.owl acinic cell carcinoma of parotid|acinic cell carcinoma of the parotid gland|acinic cell carcinoma of the parotid|acinic cell carcinoma of parotid gland|parotid gland acinar cell carcinoma|parotid gland acinic cell carcinoma|parotid acinic cell carcinoma NCIT:C5933|UMLS:C1335353|EFO:1000458 owl:Class MONDO:0100348 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems. tmpte7i6ely_mondo_relaxed.owl NEDMILG OMIM:619091 owl:Class MONDO:0014356 biolink:NamedThing mitochondrial complex III deficiency nuclear type 7 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in UQCC2|mitochondrial complex III deficiency, nuclear type 7|MC3DN7|mitochondrial Complex 3 deficiency, nuclear type 7|UQCC2 mitochondrial complex III deficiency Orphanet:1460|DOID:0080116|OMIM:615824|UMLS:C4014408 owl:Class HGNC:21237 biolink:NamedThing UQCC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003761 biolink:NamedThing leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes. tmpte7i6ely_mondo_relaxed.owl leptomeningeal melanoma|meningeal melanoma|leptomeninx melanoma|leptomeninx melanoma (disease)|melanoma (disease) of leptomeninx|melanoma of the leptomeninges|malignant melanoma of meninges|melanoma of leptomeninges DOID:6085|NCIT:C5317|SCTID:277530005|UMLS:C1334386 Editor note: TODO check meninx vs leptomeninges owl:Class UBERON:0000391 biolink:NamedThing leptomeninx tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5820 biolink:NamedThing Plasmodium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0045003 biolink:NamedThing scrotal disorder A disease or disorder that involves the scrotum. tmpte7i6ely_mondo_relaxed.owl scrotum disease or disorder|disease or disorder of scrotum|disease of scrotum|disorder of scrotum|scrotum disease UMLS:C0268919|SCTID:49701002 owl:Class GO:0097194 biolink:NamedThing execution phase of apoptosis A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpte7i6ely_mondo_relaxed.owl apoptosis|execution phase of apoptotic process owl:Class MONDO:0010340 biolink:NamedThing Asperger syndrome, X-linked, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl ASPGX1|susceptibility to X-linked asperger syndrome 1|ASPERGER syndrome, X-linked, susceptibility to, 1|Asperger syndrome, X-linked, susceptibility to, 1|Asperger syndrome, X-linked, susceptibility to, type 1 OMIM:300494|UMLS:C1845341 owl:Class GO:0005577 biolink:NamedThing fibrinogen complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. tmpte7i6ely_mondo_relaxed.owl fibrinogen beta chain|fibrinogen gamma chain|fibrinogen|fibrinogen alpha chain owl:Class MONDO:0006594 biolink:NamedThing pemphigus Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus tmpte7i6ely_mondo_relaxed.owl ICD9:694.4|ICD10:L10.9|DOID:9182|GARD:0007352|UMLS:C0030807|EFO:1000749|Wikipedia:Pemphigus|SCTID:65172003|ICD10:L10|NCIT:C34909|MESH:D010392 https://rarediseases.info.nih.gov/diseases/7352/pemphigus owl:Class GO:0030057 biolink:NamedThing desmosome A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. tmpte7i6ely_mondo_relaxed.owl spot desmosome|macula adherens owl:Class MONDO:0014989 biolink:NamedThing uncombable hair syndrome 2 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene. tmpte7i6ely_mondo_relaxed.owl uncombable hair syndrome 2|uncombable hair syndrome caused by mutation in TGM3|UHS2|uncombable hair syndrome type 2|uncombable hair syndrome 2; UHS2|TGM3 uncombable hair syndrome UMLS:C4310649|OMIM:617251 owl:Class HGNC:11779 biolink:NamedThing TGM3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013756 biolink:NamedThing venous blood tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100442 biolink:NamedThing RP2-related retinopathy A retinopathy caused by variants in the X-linked gene, RP2. tmpte7i6ely_mondo_relaxed.owl RP2|RP2 retinopathy|RP2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in RP2|retinitis pigmentosa type 2|retinitis pigmentosa 2 owl:Class UBERON:0009712 biolink:NamedThing endocardium of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018178 biolink:NamedThing intestinal lymphangiectasia Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies. tmpte7i6ely_mondo_relaxed.owl intestinal lymphangiectasia|intestinal lymphangiectasia (disease) intestinal lymphangiectasia (disease) Orphanet:36204|ICD10:I89.0|MedDRA:10025213|SCTID:197260007|HP:0002593|ICD9:457.1|GARD:0012331 owl:Class MONDO:0001217 biolink:NamedThing pseudomembranous conjunctivitis Conjunctivitis that is characterized by formation of a pseudomembrane. tmpte7i6ely_mondo_relaxed.owl conjunctivitis with pseudomembrane ICD10:H10.22|UMLS:C0155144|SCTID:72115001|NCIT:C35196|DOID:11190|GARD:0008446|ICD9:372.04 MONDO:0022856 https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane owl:Class MONDO:0012523 biolink:NamedThing retinitis pigmentosa 36 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 36|PRCD retinitis pigmentosa|RP 36|retinitis pigmentosa caused by mutation in PRCD|retinitis pigmentosa type 36|RP36 OMIM:610599|MESH:C566431|UMLS:C1864621|DOID:0110405|GARD:0010403|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36 owl:Class HGNC:32528 biolink:NamedThing PRCD tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008987 biolink:NamedThing renal parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002007 biolink:NamedThing convex 3-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016517 biolink:NamedThing lumen of jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012477 biolink:NamedThing retinitis pigmentosa 33 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene. tmpte7i6ely_mondo_relaxed.owl RP33|retinitis pigmentosa caused by mutation in SNRNP200|RP 33|retinitis pigmentosa type 33|SNRNP200 retinitis pigmentosa|retinitis pigmentosa 33 MESH:C563676|OMIM:610359|DOID:0110366|GARD:0010400|ICD10:H35.5|UMLS:C1835895 https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33 owl:Class HGNC:30859 biolink:NamedThing SNRNP200 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000516 biolink:NamedThing phalanx chondroma A chondroma that involves the phalanx. tmpte7i6ely_mondo_relaxed.owl phalanx chondroma DOID:0050898 owl:Class UBERON:0004889 biolink:NamedThing lobar bronchus vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002473 biolink:NamedThing intercerebral commissure tmpte7i6ely_mondo_relaxed.owl owl:Class N15e96f8ffcc148a698ca0e253d2ee1c3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:1257 biolink:NamedThing Peptostreptococcus tmpte7i6ely_mondo_relaxed.owl PMID:11491354|GC_ID:11 ncbi_taxonomy owl:Class CHEBI:27177 biolink:NamedThing L-tyrosine derivative A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom. tmpte7i6ely_mondo_relaxed.owl L-tyrosine derivatives owl:Class NCBITaxon:1980456 biolink:NamedThing Andes orthohantavirus tmpte7i6ely_mondo_relaxed.owl Andes hantavirus|Andes virus GC_ID:1 NCBITaxon:46607 ncbi_taxonomy owl:Class MONDO:0012703 biolink:NamedThing lissencephaly due to TUBA1A mutation Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. tmpte7i6ely_mondo_relaxed.owl LIS3|lissencephaly type 3|lissencephaly 3 ICD10:Q04.3|OMIM:611603|UMLS:CN200289|MESH:C566908|NCIT:C148461|Orphanet:171680 owl:Class HGNC:20766 biolink:NamedThing TUBA1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000935 biolink:NamedThing larynx squamous papilloma A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare. tmpte7i6ely_mondo_relaxed.owl squamous papilloma of larynx|larynx squamous papilloma|papilloma of larynx|laryngeal papilloma|squamous papilloma of the larynx|larynx papilloma|papilloma of the larynx NCIT:C7742|DOID:10071|UMLS:C0240164 owl:Class UBERON:0003332 biolink:NamedThing submucosa of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008030 biolink:NamedThing facioscapulohumeral muscular dystrophy 1 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene. tmpte7i6ely_mondo_relaxed.owl facioscapulohumeral muscular dystrophy 1A|muscular dystrophy, facioscapulohumeral, type 1A|FSHMD1A|muscular dystrophy, facioscapulohumeral, type 1|FSHD|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|FSHD1|FRG1 facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|FSHD1A|FMD|facioscapulohumeral muscular dystrophy, infantile|muscular dystrophy, facioscapulohumeral|facioscapulohumeral muscular dystrophy type 1|facioscapulohumeral muscular dystrophy 1|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles|facioscapulohumeral muscular dystrophy DOID:0111192|GARD:0009941|MESH:C536391|OMIM:158900|Orphanet:269 https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy owl:Class HGNC:3954 biolink:NamedThing FRG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001332 biolink:NamedThing palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms. tmpte7i6ely_mondo_relaxed.owl Hench-Rosenberg syndrome|Hench's syndrome ICD9:719.38|MESH:C538103|ICD9:719.32|ICD9:719.36|ICD9:719.3|ICD10:M12.30|ICD10:M12.3|SCTID:50442003|GARD:0007304|DOID:1166|ICD9:719.31|ICD9:719.33|UMLS:C0085574|ICD9:719.30 owl:Class CHEBI:63551 biolink:NamedThing carbohydrate acid derivative anion A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. tmpte7i6ely_mondo_relaxed.owl carbohydrate acid anion derivative|carbohydrate acid anion derivatives|carbohydrate acid derivative anions owl:Class CHEBI:63436 biolink:NamedThing carbohydrate acid derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. tmpte7i6ely_mondo_relaxed.owl carbohydrate acid derivatives owl:Class UBERON:0005662 biolink:NamedThing 4th arch ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016990 biolink:NamedThing acquired prothrombin deficiency An instance of prothrombin deficiency that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired factor II deficiency|hypoprothrombinemia, acquired|acquired prothrombin deficiency|acquired hypoprothrombinemia GARD:0000475|UMLS:C0392610|MESH:C538174|SCTID:4152002|NCIT:C131622|ICD10:D68.4|Orphanet:26348 owl:Class OBO:CHR_9606-chr3q29 biolink:NamedThing 3q29 (Human) tmpte7i6ely_mondo_relaxed.owl 198295559 192600000 hg38 owl:Class MONDO:0014737 biolink:NamedThing dehydrated hereditary stomatocytosis 2 Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene. tmpte7i6ely_mondo_relaxed.owl xerocytosis Gardos|Dehydrated hereditary stomatocytosis type 2|KCNN4 dehydrated hereditary stomatocytosis|Dehydrated hereditary stomatocytosis 2|dehydrated hereditary stomatocytosis caused by mutation in KCNN4|Desiccytosis Gardos|DHS2|dehydrated hereditary stomatocytosis 2; DHS2 UMLS:C4225242|OMIM:616689|DOID:0111577 owl:Class HGNC:6293 biolink:NamedThing KCNN4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004700 biolink:NamedThing parotid gland cancer A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl cancer of parotid gland|malignant tumor of parotid|malignant tumor of the parotid|malignant parotid gland tumor|malignant neoplasm of the parotid gland|cancer of the parotid gland|malignant parotid neoplasm|cancer of parotid|malignant tumor of parotid gland|cancer of the parotid|malignant parotid tumor|malignant tumor of the parotid gland|malignant neoplasm of the parotid|parotid cancer|malignant neoplasm of parotid gland|malignant neoplasm of parotid|malignant parotid gland neoplasm|parotid gland cancer SCTID:363379000|UMLS:C0747273|NCIT:C3525|DOID:9036|ICD9:142.0|ICD10:C07|MESH:D010307 owl:Class FOODON:03411213 biolink:NamedThing nut producing plant tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004294 biolink:NamedThing glomerular capillary endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004212 biolink:NamedThing glomerular capillary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007606 biolink:NamedThing fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. tmpte7i6ely_mondo_relaxed.owl progressive myositis ossificans|Stone Man syndrome|progressive ossifying myositis|Stone man syndrome|myositis ossificans progressiva|fop|fibrodysplasia ossificans progressiva UMLS:C0016037|DOID:13374|ICD10:M61.1|ICD10:M61.10|ICD9:728.11|SCTID:82725007|GARD:0006445|MedDRA:10068715|OMIM:135100|NCIT:C3040|Orphanet:337 owl:Class UBERON:0001165 biolink:NamedThing pyloric antrum tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002551 biolink:NamedThing fibroblast of dermis tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:05:33Z cell owl:Class MONDO:0017774 biolink:NamedThing hypobetalipoproteinemia A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. tmpte7i6ely_mondo_relaxed.owl hypo-beta-lipoproteinemia Orphanet:31154|UMLS:C0020597|DOID:1390|Orphanet:426|ICD10:E78.6|MESH:D006995|SCTID:190786004 owl:Class MONDO:0013752 biolink:NamedThing hypoplastic left heart syndrome 2 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene. tmpte7i6ely_mondo_relaxed.owl hypoplastic left heart syndrome type 2|HLHS2|hypoplastic left heart syndrome 2|NKX2-5 hypoplastic left heart syndrome|hypoplastic left heart syndrome caused by mutation in NKX2-5 ICD10:Q23.4|OMIM:614435|UMLS:C3280795|Orphanet:2248|MedDRA:10021076|MESH:D018636 owl:Class MONDO:0019851 biolink:NamedThing acquired primary ovarian failure An instance of primary ovarian failure that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired primary ovarian failure|acquired premature ovarian failure Orphanet:95709|UMLS:C4303540|SCTID:717954003|ICD10:E28.8 owl:Class HGNC:25070 biolink:NamedThing ACD tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001568 biolink:NamedThing pulmonary artery endothelial cell tmpte7i6ely_mondo_relaxed.owl PAEC cell BTO:0001141 cl owl:Class MONDO:0001237 biolink:NamedThing appendix lymphoma A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. tmpte7i6ely_mondo_relaxed.owl primary appendix lymphoma|lymphoma of appendix|appendiceal lymphoma|lymphoma of the appendix|vermiform appendix lymphoma|lymphoma of vermiform appendix|appendix lymphoma NCIT:C5513|UMLS:C1332328|DOID:11241 owl:Class GO:0007142 biolink:NamedThing male meiosis II A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline. tmpte7i6ely_mondo_relaxed.owl male meiosis II nuclear division owl:Class MONDO:0013887 biolink:NamedThing heterotaxy, visceral, 6, autosomal tmpte7i6ely_mondo_relaxed.owl heterotaxy, visceral, 6, autosomal|HTX6 OMIM:614779|UMLS:C3553676|Orphanet:450 owl:Class HGNC:26530 biolink:NamedThing CFAP53 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq28 biolink:NamedThing Xq28 (Human) tmpte7i6ely_mondo_relaxed.owl 156040895 148000000 hg38 owl:Class HGNC:3327 biolink:NamedThing ELN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0037191 biolink:NamedThing wall of membranous labyrinth tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001849 biolink:NamedThing membranous labyrinth tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002570 biolink:NamedThing mesenchymal stem cell of adipose A mesenchymal stem cell of adipose tissue. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-01T09:57:17Z cell owl:Class UBERON:0004259 biolink:NamedThing lower arm blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041535 biolink:NamedThing mesenteric lymphadenitis due to Yersinia infection An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis. tmpte7i6ely_mondo_relaxed.owl Yersinia pseudotuberculosis mesenteric lymphadenitis|Masshoff's syndrome|lymphadenitis mesenterialis Masshoff|Yersinia pseudotuberculosis caused mesenteric lymphadenitis|mesenteric lymphadenitis due to Yersinia pseudotuberculosis UMLS:C0275758|SCTID:13272007 owl:Class NCBITaxon:633 biolink:NamedThing Yersinia pseudotuberculosis tmpte7i6ely_mondo_relaxed.owl Shigella pseudotuberculosis|Pasteurella pseudotuberculosis|Bacillus pseudotuberkulosis|Pasteurella lymphangitidis|Bacterium pseudotuberculosis PMID:23919959|GC_ID:11|PMID:2223608 NCBITaxon:1161941 ncbi_taxonomy owl:Class UBERON:0001549 biolink:NamedThing dorsal metatarsal vein tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0015022 biolink:NamedThing increased combustibility An increase in combustibility. tmpte7i6ely_mondo_relaxed.owl combustible owl:Class MONDO:0011461 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 2 Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene. tmpte7i6ely_mondo_relaxed.owl GEFSP2|febrile seizures, familial caused by mutation in SCN1A|febrile seizures, familial, 3A|generalized epilepsy with febrile seizures plus, type 2|SCN1A febrile seizures, familial|Gefs+, type 2 MESH:C565810|UMLS:C1858673|Orphanet:36387|OMIM:604403|DOID:0111294 owl:Class HGNC:10585 biolink:NamedThing SCN1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015725 biolink:NamedThing mosaic trisomy 14 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. tmpte7i6ely_mondo_relaxed.owl trisomy 14 mosaicism|Mosaic trisomy chromosome 14|Mosaic trisomy type 14 ICD10:Q92.1|Orphanet:1703|UMLS:C2930917|MESH:C535489|GARD:0001327|NCIT:C116319|SCTID:764466009 https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14 owl:Class UBERON:0006922 biolink:NamedThing cervix squamous epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011270 biolink:NamedThing dorsal trunk tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001189 biolink:NamedThing left testicular artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001223 biolink:NamedThing left ureter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010429 biolink:NamedThing intellectual disability, X-linked 96 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 96|MRX96|mental retardation, X-linked 96|SYP non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 96|mental retardation, X-linked type 96|non-syndromic X-linked intellectual disability caused by mutation in SYP OMIM:300802|UMLS:C3275408 owl:Class HGNC:11506 biolink:NamedThing SYP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013283 biolink:NamedThing immunodeficiency, common variable, 3 tmpte7i6ely_mondo_relaxed.owl CVID3|antibody deficiency due to CD19 defect|immunodeficiency, common variable, 3|immunodeficiency, common variable, type 3 Orphanet:1572|UMLS:C3150738|OMIM:613493 owl:Class HGNC:1633 biolink:NamedThing CD19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011797 biolink:NamedThing infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. tmpte7i6ely_mondo_relaxed.owl IAHSP|spastic paralysis, infantile-onset ascending|spastic paralysis, infantile onset ascending GARD:0004914|ICD10:G12.2|ICD9:343.8|Orphanet:293168|UMLS:C2931441|SCTID:703543005|MESH:C537217|OMIM:607225 https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis owl:Class HGNC:443 biolink:NamedThing ALS2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:57934 biolink:NamedThing psychosine(1+) The ammonium ion resulting from the protonation of the amino group of psychosine. tmpte7i6ely_mondo_relaxed.owl beta-D-galactosyl-(1<->1)-sphing-4-enine|(2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium|(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium owl:Class UBERON:0007728 biolink:NamedThing interphalangeal joint of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007201 biolink:NamedThing blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). tmpte7i6ely_mondo_relaxed.owl BPES with Duane retraction syndrome|blepharophimosis syndrome type 1|blepharophimosis, ptosis, and epicanthus inversus syndrome|blepharophimosis types 1 and 2|BPES type 1|blepharophimosis, ptosis, epicanthus inversus with ovarian failure|blepharophimosis-epicanthus inversus-ptosis syndrome|blepharophimosis, ptosis, and epicanthus inversus|BPES without ovarian failure|BPES, type I, autosomal recessive|BPES|BPES with premature ovarian failure|blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|BPES, type 2|blepharophimosis, ptosis, epicanthus inversus syndrome|BPES, type 1|BPES with ovarian failure DOID:14778|Orphanet:126|MESH:C562419|ICD10:Q10.3|OMIM:110100|GARD:0000023|SCTID:715391004|UMLS:C0220663 owl:Class HGNC:1092 biolink:NamedThing FOXL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010075 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures|SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures|spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|SEMDJL|B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity OMIM:271640|Orphanet:93359|DOID:0112198 owl:Class MONDO:0013896 biolink:NamedThing Joubert syndrome 18 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene. tmpte7i6ely_mondo_relaxed.owl JBTS18|Joubert syndrome 18|Joubert syndrome caused by mutation in TCTN3|TCTN3 Joubert syndrome|Joubert syndrome type 18 UMLS:C3553758|Orphanet:2754|DOID:0110987|OMIM:614815 owl:Class HGNC:24519 biolink:NamedThing TCTN3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11848 biolink:NamedThing TLR2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003439 biolink:NamedThing nerve of trunk region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045004 biolink:NamedThing skeletal ligament disorder A disease or disorder that involves the skeletal ligament. tmpte7i6ely_mondo_relaxed.owl disease or disorder of skeletal ligament|skeletal ligament disease or disorder|disease of skeletal ligament|disorder of skeletal ligament owl:Class UBERON:0003869 biolink:NamedThing presumptive ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012320 biolink:NamedThing migraine, familial hemiplegic, 3 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene. tmpte7i6ely_mondo_relaxed.owl migraine, familial hemiplegic, 3|familial or sporadic hemiplegic migraine caused by mutation in SCN1A|migraine, familial hemiplegic, type 3|FHM3|SCN1A familial or sporadic hemiplegic migraine DOID:0111183|MESH:C566500|UMLS:C1864987|GARD:0010974|Orphanet:569|OMIM:609634 owl:Class UBERON:0000959 biolink:NamedThing optic chiasma tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28929 biolink:NamedThing KRT74 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014479 biolink:NamedThing porokeratosis 8, disseminated superficial actinic type tmpte7i6ely_mondo_relaxed.owl POROK8|porokeratosis 8, disseminated superficial actinic type Orphanet:79152|UMLS:C4015128|OMIM:616063 owl:Class HGNC:16192 biolink:NamedThing SLC17A9 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005388 biolink:NamedThing photoreceptor array tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007100 biolink:NamedThing primary circulatory organ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004222 biolink:NamedThing stomach smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009153 biolink:NamedThing ectopia lentis et pupillae tmpte7i6ely_mondo_relaxed.owl ectopia lentis with ectopia of pupil|ectopia lentis et pupillae OMIM:225200|Orphanet:1885|UMLS:C1644196|MESH:C563268|SCTID:419237004|DOID:0111648 owl:Class HGNC:19706 biolink:NamedThing ADAMTSL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013183 biolink:NamedThing congenital stationary night blindness 1C Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene. tmpte7i6ely_mondo_relaxed.owl CSNB, complete, autosomal recessive|TRPM1 congenital stationary night blindness|congenital stationary night blindness type 1C|congenital stationary night blindness 1C autosomal recessive|congenital stationary night blindness 1C|CSNB1C|night blindness, congenital stationary, type 1C|congenital stationary night blindness caused by mutation in TRPM1 OMIM:613216|DOID:0110867|UMLS:C2750747|MESH:C567704 owl:Class HGNC:7146 biolink:NamedThing TRPM1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002138 biolink:NamedThing endothelial cell of lymphatic vessel A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions. tmpte7i6ely_mondo_relaxed.owl lymphatic endothelial cell|LEC FMA:68458|BTO:0004167 tmeehan 2010-08-24T02:05:28Z CL:1000421 cell owl:Class CL:0005022 biolink:NamedThing vascular lymphangioblast Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells. tmpte7i6ely_mondo_relaxed.owl parachordal lymphangioblast Ceri 2012-01-12T05:21:09Z cell owl:Class MONDO:0013765 biolink:NamedThing coronary heart disease, susceptibility to, 6 Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene. tmpte7i6ely_mondo_relaxed.owl coronary heart disease, susceptibility to, type 6|MMP3 coronary artery disease|CHDS6|coronary artery disease caused by mutation in MMP3|coronary heart disease, susceptibility to, 6|susceptibility to coronary heart disease 6 OMIM:614466 owl:Class HGNC:7173 biolink:NamedThing MMP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014047 biolink:NamedThing Cowden syndrome 5 Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene. tmpte7i6ely_mondo_relaxed.owl Cowden syndrome 5|CWS5|Cowden disease caused by mutation in PIK3CA|PIK3CA Cowden disease|Cowden syndrome type 5 Orphanet:201|OMIM:615108|UMLS:C3554518 owl:Class HGNC:8975 biolink:NamedThing PIK3CA tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000031 biolink:NamedThing generically dependent continuant b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])|A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. tmpte7i6ely_mondo_relaxed.owl GenericallyDependentContinuant gdc the pdf file on your laptop, the pdf file that is a copy thereof on my laptop|The entries in your database are patterns instantiated as quality instances in your hard drive. The database itself is an aggregate of such patterns. When you create the database you create a particular instance of the generically dependent continuant type database. Each entry in the database is an instance of the generically dependent continuant type IAO: information content entity.|the sequence of this protein molecule; the sequence that is a copy thereof in that protein molecule. (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001] owl:Class MONDO:0042605 biolink:NamedThing Y chromosome infertility due to DAZ1 deletion tmpte7i6ely_mondo_relaxed.owl deleted in azoospermia|Y chromosome microdeletions|DAZ|Y chromosome infertility|male sterility due to Y-chromosome deletions HGNC:2682|GARD:0000185 owl:Class HGNC:930 biolink:NamedThing B4GALT7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014861 biolink:NamedThing autoimmune disease, multisystem, infantile-onset, 2 Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene. tmpte7i6ely_mondo_relaxed.owl autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|autoimmune disease, multisystem, infantile-onset, type 2|ADMIO2|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2|autoimmune disease, multisystem, infantile-onset, 2|ZAP70 autoimmune disease, multisystem, infantile-onset UMLS:C4310768|OMIM:617006 owl:Class HGNC:12858 biolink:NamedThing ZAP70 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012590 biolink:NamedThing XFE progeroid syndrome A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. tmpte7i6ely_mondo_relaxed.owl XFEPS|XPF-ERCC1 progeroid syndrome|XFE progeroid syndrome UMLS:C1970416|MESH:C567043|OMIM:610965|GARD:0010628|DOID:0060590 https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome owl:Class HGNC:3436 biolink:NamedThing ERCC4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006527 biolink:NamedThing anhidrosis Lack of sweating or the ability to sweat when provoked by the appropriate stimulus. tmpte7i6ely_mondo_relaxed.owl absence of sweating|adiaphoresis ICD10:L74.4|NCIT:C34385|ICD9:705.0|MESH:D007007|EFO:1000670|DOID:11156|OMIM:206600|SCTID:39659002 owl:Class HP:0000970 biolink:NamedThing Anhidrosis Inability to sweat. tmpte7i6ely_mondo_relaxed.owl Sudomotor dysfunction|Lack of sweating|Anhydrosis|Sweating dysfunction SNOMEDCT_US:39659002|MSH:D007007|MEDDRA:10002512|UMLS:C0003028|SNOMEDCT_US:14662005 human_phenotype owl:Class UBERON:0010996 biolink:NamedThing articular cartilage of joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014981 biolink:NamedThing immunodeficiency 49 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. tmpte7i6ely_mondo_relaxed.owl IMD49|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|immunodeficiency 49|immunodeficiency type 49|BCL11B primary immunodeficiency disease|immunodeficiency 49; IMD49|primary immunodeficiency disease caused by mutation in BCL11B|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities UMLS:C4310656|OMIM:617237 owl:Class HGNC:13222 biolink:NamedThing BCL11B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010503 biolink:NamedThing Bartter disease type 5 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. tmpte7i6ely_mondo_relaxed.owl MAGED2 Bartter syndrome|BARTS5|Bartter syndrome, type 5, antenatal, transient|Bartter syndrome caused by mutation in MAGED2 OMIM:300971|DOID:0110147|UMLS:C4310820|ICD10:E26.8 owl:Class CL:1000600 biolink:NamedThing lower urinary tract cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001115 cell owl:Class MONDO:0001699 biolink:NamedThing tinea manuum A dermatophytosis that involves the hands. tmpte7i6ely_mondo_relaxed.owl manus dermatophytosis|Tinea manus|dermatophytosis of manus|dermatophytosis of hand DOID:13369|ICD9:110.2|UMLS:C0153246|ICD10:B35.2|SCTID:48971001 owl:Class HGNC:21555 biolink:NamedThing EYS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018408 biolink:NamedThing infra-orbital nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018503 biolink:NamedThing carcinoma of stomach, salivary gland type tmpte7i6ely_mondo_relaxed.owl gastric carcinoma, salivary gland type ICD10:C16.0|UMLS:CN237508|ICD10:C16.1|ICD10:C16.2|ICD10:C16.6|ICD10:C16.5|ICD10:C16.4|ICD10:C16.8|Orphanet:423781|ICD10:C16.3 owl:Class PO:0009009 biolink:NamedThing plant embryo A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631). tmpte7i6ely_mondo_relaxed.owl germ (related)|embryo (broad)|embrión (Spanish, exact)|植物胚 (Japanese, exact) PO_GIT:92 A plant embryo is generally formed after the first division of a plant zygote (PO:0000423), but in the case of a nucellar (adventitious) plant embryo (PO:0004537), somatic plant embryo (PO:0025302), microspore-derived cultured plant embryo (PO:0025305), and other embryos that arise through apogamy, it begins after the division of a single cell that is not a zygote. The end of the embryo stage varies among taxa; the beginning of a seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010). plant_anatomy owl:Class MONDO:0012760 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, 5|EIG5|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 DOID:0111320|OMIM:611934 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class CL:1001599 biolink:NamedThing pancreas exocrine glandular cell Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts. tmpte7i6ely_mondo_relaxed.owl exocrine pancreas glandular cell|pancreas exocrine glandular cells CALOHA:TS-1242|BTO:0000028 owl:Class UBERON:0004907 biolink:NamedThing lower digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000587 biolink:NamedThing decreased size A size quality which is relatively low. tmpte7i6ely_mondo_relaxed.owl small|tiny|reduced|underdeveloped|hypoplasia owl:Class UBERON:0035805 biolink:NamedThing muscle layer of sigmoid colon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010143 biolink:NamedThing seminal vesicle fluid tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007286 biolink:NamedThing spermatid development The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl spermiogenesis|spermatid cell development owl:Class UBERON:0004214 biolink:NamedThing upper leg nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013756 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene. tmpte7i6ely_mondo_relaxed.owl PDP, autosomal recessive|PHOAR2|hypertrophic osteoarthropathy, primary, autosomal recessive, 2|primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1|pachydermoperiostosis, autosomal recessive|hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|SLCO2A1 primary hypertrophic osteoarthropathy Orphanet:2796|UMLS:C3280800|OMIM:614441 owl:Class HGNC:10955 biolink:NamedThing SLCO2A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12801 biolink:NamedThing XBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000962 biolink:NamedThing Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:26996000|SNOMEDCT_US:399955009|SNOMEDCT_US:396228006|MEDDRA:10020649|UMLS:C0870082 HP:0007523 human_phenotype owl:Class MONDO:0007533 biolink:NamedThing elliptocytosis 2 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene. tmpte7i6ely_mondo_relaxed.owl hereditary elliptocytosis caused by mutation in SPTA1|EL2|elliptocytosis, Rhesus-unlinked type|elliptocytosis type 2|elliptocytosis 2|SPTA1 hereditary elliptocytosis UMLS:C1851741|OMIM:130600|Orphanet:288|MESH:C565058 owl:Class UBERON:0003689 biolink:NamedThing sella turcica tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0086019 biolink:NamedThing cell-cell signaling involved in cardiac conduction Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium. tmpte7i6ely_mondo_relaxed.owl cell-cell signalling involved in cardiac conduction owl:Class MONDO:0011828 biolink:NamedThing intellectual disability, autosomal recessive 2 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 2A|intellectual disability, autosomal recessive 2A|CRBN autosomal recessive non-syndromic intellectual disability|MRT2|intellectual disability, autosomal recessive type 2|intellectual disability, autosomal recessive 2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN|mental retardation, autosomal recessive type 2|mental retardation, autosomal recessive 2 MESH:C564404|UMLS:C1843942|OMIM:607417 owl:Class HGNC:30185 biolink:NamedThing CRBN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056813 biolink:NamedThing hormone-resistant breast carcinoma Breast carcinoma that does not respond to hormone therapy. tmpte7i6ely_mondo_relaxed.owl hormone-refractory breast cancer|hormone-resistant breast carcinoma|hormone-resistant breast cancer NCIT:C114932 owl:Class MONDO:0013201 biolink:NamedThing Waardenburg syndrome type 4B A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome caused by mutation in EDN3|Waardenburg syndrome type 4B|Waardenburg syndrome, type 4B|WS4B|Waardenburg syndrome type IVB|Waardenburg syndrome, type 4B, with Hirschsprung disease|EDN3 Waardenburg syndrome|Waardenburg syndrome with Hirschsprung disease type 4B Orphanet:897|DOID:0110954|MESH:C567680|UMLS:C2750457|OMIM:613265 owl:Class HsapDv:0000088 biolink:NamedThing human early adulthood stage Adult stage that refers to an adult who is under 45. tmpte7i6ely_mondo_relaxed.owl 19-44 years owl:Class GO:0007041 biolink:NamedThing lysosomal transport The directed movement of substances into, out of or within a lysosome. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000331 biolink:NamedThing serous cell of epithelium of bronchus A serous secreting cell that is part of the epithelium of bronchus. tmpte7i6ely_mondo_relaxed.owl FMA:263080 cell owl:Class MONDO:0012394 biolink:NamedThing multiple synostoses syndrome 2 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. tmpte7i6ely_mondo_relaxed.owl multiple synostoses syndrome caused by mutation in GDF5|multiple synostoses syndrome 2|multiple synostoses syndrome type 2|SYNS2|GDF5 multiple synostoses syndrome GARD:0009916|Orphanet:3237|UMLS:C1832708|MESH:C537380|OMIM:610017 https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2 owl:Class PO:0020003 biolink:NamedThing plant ovule A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006). tmpte7i6ely_mondo_relaxed.owl óvulo vegetal (Spanish, exact)|Zea ovule (narrow)|Poaceae ovule (narrow)|胚珠 (Japanese, exact) PO_GIT:70|PO_GIT:464 A seed (PO:0009010) develops from a plant ovule. In angiosperms, a plant ovule is part of a plant ovary (PO:0009072). In conifers, a plant ovule is part of an ovuliferous scale (add term). If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352). PO:0006491|PO:0006457 plant_anatomy owl:Class MONDO:0014426 biolink:NamedThing nanophthalmos 4 Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene. tmpte7i6ely_mondo_relaxed.owl nanophthalmia caused by mutation in TMEM98|nanophthalmos type 4|TMEM98 nanophthalmia|NNO4|Nanophthalmia 4|nanophthalmos 4 Orphanet:35612|OMIM:615972|UMLS:C4014848 owl:Class HGNC:24529 biolink:NamedThing TMEM98 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002318 biolink:NamedThing white matter of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009097 biolink:NamedThing gravid organism tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:1000011 biolink:NamedThing labial commissure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016072 biolink:NamedThing anomaly of puberty or/and menstrual cycle of genetic origin An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic anomaly of puberty or/and menstrual cycle Orphanet:202940 owl:Class HGNC:15888 biolink:NamedThing RTEL1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050817 biolink:NamedThing coagulation The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpte7i6ely_mondo_relaxed.owl clotting owl:Class UBERON:0007306 biolink:NamedThing pronephric glomerular capillary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023013 biolink:NamedThing Duker-Weiss-Siber syndrome tmpte7i6ely_mondo_relaxed.owl Duker Weiss Siber syndrome|microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism|microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism UMLS:C2930993|MESH:C535719|GARD:0001918 https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome owl:Class MONDO:0009022 biolink:NamedThing corpus callosum, agenesis of A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. tmpte7i6ely_mondo_relaxed.owl agenesis of the corpus callosum|isolated corpus callosum agenesis|ACC|corpus callosum agenesis|agenesis of corpus callosum|corpus callosum, agenesis of NCIT:C98905|GARD:0001535|OMIM:217990|SCTID:5102002|MESH:D061085 owl:Class HGNC:13156 biolink:NamedThing ZNF81 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1990497 biolink:NamedThing regulation of cytoplasmic translation in response to stress Modulation of the frequency, rate or extent of cytoplasmic translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002181 biolink:NamedThing cytoplasmic translation The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007733 biolink:NamedThing holoprosencephaly 3 Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. tmpte7i6ely_mondo_relaxed.owl Shh holoprosencephaly|HLP3|Hlp3|holoprosencephaly type 3|holoprosencephaly 3|HPE3|holoprosencephaly caused by mutation in Shh|SHH holoprosencephaly|holoprosencephaly caused by mutation in SHH OMIM:142945|DOID:0110875|Orphanet:2162|UMLS:C1840529|MESH:C564181 owl:Class CL:0000020 biolink:NamedThing spermatogonium An euploid male germ cell of an early stage of spermatogenesis. tmpte7i6ely_mondo_relaxed.owl spermatogonial cell EMAPA:31482|FMA:72291|BTO:0000958|CALOHA:TS-2193|FBbt:00004935 cell owl:Class PATO:0001394 biolink:NamedThing diploid A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006442 biolink:NamedThing tendon sheath fibroma A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation. tmpte7i6ely_mondo_relaxed.owl fibroma of the tendon sheath|tendon sheath fibroma|fibroma of tendon sheath UMLS:C1275236|NCIT:C6485|EFO:1000561|ICD9:215.9|SCTID:403992002 owl:Class MONDO:0033821 biolink:NamedThing fungal keratitis tmpte7i6ely_mondo_relaxed.owl Orphanet:519930 owl:Class OBO:CHR_9606-chr5q31.3 biolink:NamedThing 5q31.3 (Human) tmpte7i6ely_mondo_relaxed.owl 145100000 140100000 hg38 owl:Class MONDO:0025512 biolink:NamedThing type II hypersensitivity reaction disease A disease that has its basis in the disruption of type II hypersensitivity. tmpte7i6ely_mondo_relaxed.owl type II hypersensitivity disease|disorder of type II hypersensitivity DOID:417|EFO:0005809 Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22) owl:Class UBERON:0012292 biolink:NamedThing embryonic cloacal fold tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014391 biolink:NamedThing severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. tmpte7i6ely_mondo_relaxed.owl immunodeficiency type 24|SCID due to CTPS1 deficiency|IMD24|immunodeficiency 24 SCTID:763623001|OMIM:615897|Orphanet:420573|ICD10:D81.2|UMLS:C4014617 owl:Class HGNC:2519 biolink:NamedThing CTPS1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:04000003 biolink:NamedThing concentration of carbon dioxide in soil The concentration of carbon dioxide when measured in soil. tmpte7i6ely_mondo_relaxed.owl owl:Class N0c395bcdfdc8463e8c0a1559bd1d34d3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0004581 biolink:NamedThing systemic venous system tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030263 biolink:NamedThing apoptotic chromosome condensation The compaction of chromatin during apoptosis. tmpte7i6ely_mondo_relaxed.owl pyknosis owl:Class GO:0030262 biolink:NamedThing apoptotic nuclear changes Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. tmpte7i6ely_mondo_relaxed.owl apoptotic nuclear change owl:Class GO:0150075 biolink:NamedThing negative regulation of protein-glutamine gamma-glutamyltransferase activity Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003854 biolink:NamedThing spinal cord neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011587 biolink:NamedThing pre-dentine tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000060 biolink:NamedThing odontoblast Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0696|FMA:62999|BTO:0001769 legacy def: One of the cells forming the outer surface of dental pulp that produces tooth dentin. cell owl:Class HGNC:7225 biolink:NamedThing MPZ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003247 biolink:NamedThing epithelium of forearm tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000627 biolink:NamedThing localized A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location. tmpte7i6ely_mondo_relaxed.owl focal|localised owl:Class UBERON:0010854 biolink:NamedThing skin of front of neck tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011154 biolink:NamedThing gular region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020602 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 1 Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. tmpte7i6ely_mondo_relaxed.owl Golabi-Rosen syndrome|Simpson-Golabi-Behmel syndrome, type 1|DGSX Golabi-Rosen syndrome|SGBS1|Sgbs|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|dysplasia gigantism syndrome, X-linked|bulldog syndrome|Simpson-Golabi-Behmel syndrome type 1|GPC3 Simpson-Golabi-Behmel syndrome|Simpson dysmorphia syndrome OMIM:312870|DOID:0060248 owl:Class HGNC:4451 biolink:NamedThing GPC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000681 biolink:NamedThing tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. tmpte7i6ely_mondo_relaxed.owl DOID:0060151 owl:Class GO:0050975 biolink:NamedThing sensory perception of touch The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach). tmpte7i6ely_mondo_relaxed.owl perception of touch|tactile sense|tactition|taction owl:Class MONDO:0012575 biolink:NamedThing branchiootorenal syndrome 2 Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. tmpte7i6ely_mondo_relaxed.owl branchiootorenal syndrome 2|branchio-oto-renal syndrome caused by mutation in SIX5|SIX5 branchio-oto-renal syndrome|BOR2|branchiootorenal syndrome type 2 Orphanet:107|OMIM:610896|DOID:0111424|UMLS:C1970479 owl:Class HGNC:10891 biolink:NamedThing SIX5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0036477 biolink:NamedThing somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014945 biolink:NamedThing myopathy, distal, with rimmed vacuoles tmpte7i6ely_mondo_relaxed.owl DMRV|myopathy, distal, with rimmed vacuoles|myopathy, distal, with rimmed vacuoles; DMRV OMIM:617158|UMLS:CN239822 owl:Class HGNC:11280 biolink:NamedThing SQSTM1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006525 biolink:NamedThing left lung alveolar system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004022 biolink:NamedThing germinal neuroepithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014660 biolink:NamedThing microcephaly 15, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl microcephaly 15, primary, autosomal recessive|MCPH15 DOID:0070277|Orphanet:2512|OMIM:616486|UMLS:C4225310 owl:Class HGNC:17245 biolink:NamedThing CPA6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014467 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate D Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene. tmpte7i6ely_mondo_relaxed.owl COX6A1 Charcot-Marie-Tooth disease|CMTRID|Charcot-Marie-Tooth disease caused by mutation in COX6A1|Charcot-Marie-Tooth disease, recessive Intermediate type D|RI-CMT type D|Charcot-Marie-Tooth disease recessive intermediate type D|autosomal recessive intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, recessive intermediate D ICD10:G60.0|Orphanet:435998|OMIM:616039|UMLS:C4015029|DOID:0110203 owl:Class HGNC:2277 biolink:NamedThing COX6A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032631 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 27 tmpte7i6ely_mondo_relaxed.owl MC1DN27|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 OMIM:618248 owl:Class HGNC:29666 biolink:NamedThing MTFMT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060663 biolink:NamedThing congenital heart defects, multiple types, 5 tmpte7i6ely_mondo_relaxed.owl CHTD5|CONGENITAL heart defects, multiple types, 5 UMLS:CN873437|OMIM:617912 owl:Class OBO:CHR_9606-chr10p biolink:NamedThing 10p (Human) tmpte7i6ely_mondo_relaxed.owl 39800000 0 hg38 owl:Class HGNC:28018 biolink:NamedThing NIPAL4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007779 biolink:NamedThing transudate tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2226 biolink:NamedThing COLQ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014938 biolink:NamedThing aniridia 3 Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene. tmpte7i6ely_mondo_relaxed.owl TRIM44 isolated aniridia|aniridia 3|isolated aniridia caused by mutation in TRIM44|aniridia 3; AN3|aniridia type 3|AN3 OMIM:617142 owl:Class HGNC:19016 biolink:NamedThing TRIM44 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005690 biolink:NamedThing Caplan syndrome A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray. tmpte7i6ely_mondo_relaxed.owl Caplans syndrome|rheumatoid pneumoconiosis|Caplan's disease|Caplan syndrome|Caplan's syndrome SCTID:398640008|DOID:10326|EFO:0007192|UMLS:C0006915|MESH:D002205 owl:Class HP:0001370 biolink:NamedThing Rheumatoid arthritis Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. tmpte7i6ely_mondo_relaxed.owl Rheumatoid arthritis|RA MSH:D001172|UMLS:C0003873|SNOMEDCT_US:69896004 human_phenotype owl:Class UBERON:0009914 biolink:NamedThing renal lobule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010863 biolink:NamedThing type 1 diabetes mellitus 5 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene. tmpte7i6ely_mondo_relaxed.owl SUMO4 type 1 diabetes mellitus|IDDM5|diabetes mellitus, insulin-dependent, type 5|diabetes mellitus, insulin-dependent, 5|insulin-dependent diabetes mellitus 5|type 1 diabetes mellitus caused by mutation in SUMO4 ICD10:E10|OMIM:600320|UMLS:C1838260|DOID:0110744|MESH:C563958 owl:Class HGNC:21181 biolink:NamedThing SUMO4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004928 biolink:NamedThing submucosa of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q biolink:NamedThing 9q (Human) tmpte7i6ely_mondo_relaxed.owl 138394717 43000000 hg38 owl:Class GO:0006310 biolink:NamedThing DNA recombination Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001421 biolink:NamedThing pectoral girdle region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011950 biolink:NamedThing infantile-onset autosomal recessive nonprogressive cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, infantile nonprogressive, autosomal recessive|spinocerebellar ataxia autosomal recessive 6|Norwegian infantile onset ataxia|autosomal recessive spinocerebellar ataxia type 6|spinocerebellar ataxia, autosomal recessive 6|SCAR6|cerebellar ataxia infantile nonprogressive autosomal recessive UMLS:C1842676|Orphanet:284332|GARD:0004954|MESH:C537312|DOID:0111617|OMIM:608029|ICD10:G11.0 owl:Class UBERON:0007277 biolink:NamedThing presumptive hindbrain tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006238 biolink:NamedThing future brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013041 biolink:NamedThing atypical hemolytic-uremic syndrome with I factor anomaly tmpte7i6ely_mondo_relaxed.owl hemolytic-uremic syndrome without diarrhea with I factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 3|atypical HUS with I factor anomaly|aHUS, susceptibility to, 3|aHUS3|hemolytic uremic syndrome, atypical, susceptibility to, 3|AHUS3|aHUS with I factor anomaly|D-HUS with I factor anomaly|susceptibility to atypical hemolytic uremic syndrome 3 ICD10:D58.8|Orphanet:2134|Orphanet:93580|OMIM:612923 owl:Class MONDO:0019866 biolink:NamedThing mosaic trisomy 5 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. tmpte7i6ely_mondo_relaxed.owl trisomy 5 mosaicism|Mosaic trisomy chromosome 5|Mosaic trisomy type 5 MESH:C537762|ICD10:Q92.1|SCTID:764629008|Orphanet:96060 owl:Class MONDO:0002766 biolink:NamedThing larynx verrucous carcinoma A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction. tmpte7i6ely_mondo_relaxed.owl larynx verrucous carcinoma|laryngeal throat verrucous cancer|verrucous carcinoma of the larynx|laryngeal verrucous carcinoma|verrucous carcinoma of larynx UMLS:C0280328|SCTID:707427000|NCIT:C8188|DOID:3752 owl:Class MONDO:0016985 biolink:NamedThing nevus of Ito Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter. tmpte7i6ely_mondo_relaxed.owl nevus fuscocaeruleus acromiodeltoideus|hypomelanosis of Ito|nevi of Ito|Ito's Nevus UMLS:CN202288|Orphanet:263432|GARD:0010830|NCIT:C7582|EFO:1000395|UMLS:C0022283|ICD10:D22.6 owl:Class MONDO:0019599 biolink:NamedThing primary lipodystrophy Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy). tmpte7i6ely_mondo_relaxed.owl Orphanet:90970|ICD10:E88.1 owl:Class UBERON:0014777 biolink:NamedThing spinal neuromere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002856 biolink:NamedThing gallbladder rhabdomyosarcoma A rhabdomyosarcoma that is located in the gallbladder. tmpte7i6ely_mondo_relaxed.owl gallbladder rhabdomyosarcoma|rhabdomyosarcoma of the gallbladder|rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma|rhabdomyosarcoma of gallbladder|gall bladder rhabdomyosarcoma (disease) NCIT:C5839|UMLS:C1333756|DOID:4057 owl:Class GO:0035773 biolink:NamedThing insulin secretion involved in cellular response to glucose stimulus The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. tmpte7i6ely_mondo_relaxed.owl insulin secretion involved in cellular response to glucose owl:Class UBERON:0003059 biolink:NamedThing presomitic mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001570 biolink:NamedThing vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. tmpte7i6ely_mondo_relaxed.owl vascular morphogenesis owl:Class MONDO:0005875 biolink:NamedThing Newcastle disease A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea. tmpte7i6ely_mondo_relaxed.owl pseudo-fowlpest|Newcastle's disease UMLS:C0027983|DOID:2929|NCIT:C34849|EFO:0007395|MESH:D009521 owl:Class HP:0000509 biolink:NamedThing Conjunctivitis Inflammation of the conjunctiva. tmpte7i6ely_mondo_relaxed.owl Pink eye|Conjunctivitis, recurrent SNOMEDCT_US:9826008|MSH:D003231|UMLS:C1864156|UMLS:C0009763 human_phenotype owl:Class MONDO:0019783 biolink:NamedThing neovascular glaucoma Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. tmpte7i6ely_mondo_relaxed.owl secondary angle-closure glaucoma with rubeosis MedDRA:10062891|MESH:D015355|DOID:1687|UMLS:C0017609|EFO:1001060|SCTID:232086000|Orphanet:94058 owl:Class GO:0061547 biolink:NamedThing glycogen synthase activity, transferring glucose-1-phosphate Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4601 biolink:NamedThing GRN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011631 biolink:NamedThing hemochromatosis type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpte7i6ely_mondo_relaxed.owl HFE4|hereditary hemochromatosis caused by mutation in SLC40A1|SLC40A1 hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|hemochromatosis, type 4|ferroportin disease|autosomal dominant hereditary hemochromatosis Orphanet:139491|ICD10:E83.1|GARD:0010094|DOID:0111028|MESH:C537249|UMLS:C1853733|OMIM:606069|SCTID:719975002 https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 owl:Class HGNC:10909 biolink:NamedThing SLC40A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2942 biolink:NamedThing DNAH11 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000835 biolink:NamedThing myeloblast The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow. tmpte7i6ely_mondo_relaxed.owl FMA:83524|BTO:0000187 cell owl:Class MONDO:0010504 biolink:NamedThing immunodeficiency 47 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. tmpte7i6ely_mondo_relaxed.owl primary immunodeficiency disease caused by mutation in ATP6AP1|ATP6AP1 primary immunodeficiency disease|immunodeficiency 47|immunodeficiency 47; IMD47|immunodeficiency type 47|immunodeficiency and hepatopathy with or without neurologic features|IMD47 UMLS:C4310819|OMIM:300972 owl:Class HGNC:868 biolink:NamedThing ATP6AP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009663 biolink:NamedThing telencephalic nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23752 biolink:NamedThing CERS3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000618 biolink:NamedThing Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. tmpte7i6ely_mondo_relaxed.owl Total vision loss|Legal blindness|Blindness MSH:D001766|UMLS:C0456909|Fyler:4866|SNOMEDCT_US:65956007|UMLS:C0271215 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. HP:0007839 human_phenotype owl:Class MONDO:0015069 biolink:NamedThing neuroendocrine tumor of the anal canal A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal. tmpte7i6ely_mondo_relaxed.owl NET of anal canal|anal canal neuroendocrine neoplasm|anal NET|neuroendocrine neoplasm of the anal canal|neuroendocrine tumor of anal canal|anal canal NET|anal canal neuroendocrine tumor|anal canal well differentiated tumor/carcinoma|anal canal well differentiated tumor|anal Neuroendocrine tumor|NET of the anal canal Orphanet:100082|UMLS:CN197362|NCIT:C96540 Editor note: TODO apply G1/G2 pattern owl:Class MONDO:0014982 biolink:NamedThing myopia 25, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene. tmpte7i6ely_mondo_relaxed.owl myopia 25, autosomal dominant; MYP25|MYP25|myopia (disease) caused by mutation in P4HA2|P4HA2 myopia (disease)|myopia 25, autosomal dominant OMIM:617238|UMLS:C4310655 owl:Class MONDO:0010356 biolink:NamedThing nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. tmpte7i6ely_mondo_relaxed.owl NSIAD|nephrogenic syndrome of inappropriate antidiuresis UMLS:C1845202|Orphanet:93606|ICD10:E22.2|MESH:C564491|OMIM:300539|SCTID:723440000 owl:Class FOODON:00001093 biolink:NamedThing cereal grain food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011411 biolink:NamedThing Chudley-McCullough syndrome tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 82, formerly|deafness, autosomal recessive 82|Chudley-McCullough syndrome|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction|CMCS MESH:C535459|Orphanet:314597|UMLS:C1858695|GARD:0000086|OMIM:604213 owl:Class HGNC:29501 biolink:NamedThing GPSM2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005424 biolink:NamedThing presumptive retinal pigmented epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008476 biolink:NamedThing spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Strudwick type|Strudwick syndrome|spondyloepimetaphyseal dysplasia congenita, Strudwick type|SMED type 1|spondylometaepiphyseal dysplasia congenita, Strudwick type|spondyloepimetaphyseal dysplasia Strudwick type|Smed, Strudwick type|dappled metaphysis syndrome|SEMD, Strudwick type|Smed, type 1|SmD|SMED Strudwick type|Semdc|SEMDSTWK|spondylometaphyseal dysplasia DOID:0080028|Orphanet:93346|GARD:0000134|SCTID:702350003|ICD10:Q77.7|OMIM:184250|ICD9:758.89 https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type owl:Class HP:0001762 biolink:NamedThing Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. tmpte7i6ely_mondo_relaxed.owl Clubfoot|Pes equinus|Pes equinovarus|Club foot|Talipes varus|Foot, talipes equinovarus|Club feet|Equinovarus|Clubfeet|Clubbing of feet MEDDRA:10043106|UMLS:C0009081|Fyler:4171|SNOMEDCT_US:397932003|MSH:D003025|SNOMEDCT_US:249808002 Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. human_phenotype owl:Class NCBITaxon:1891762 biolink:NamedThing Human polyomavirus 1 tmpte7i6ely_mondo_relaxed.owl Papovavirus BKV|Human polyomavirus BK|Human polyomavirus (type BK)|Polyomavirus hominis 1|BK polyomavirus|BK virus|human polyomavirus type BK BKV|BKV|BK virus BKV|Human polyomavirus BKV|polyomavirus BK GC_ID:1 NCBITaxon:10629|NCBITaxon:38015|NCBITaxon:10575 ncbi_taxonomy owl:Class GO:0030103 biolink:NamedThing vasopressin secretion The regulated release of vasopressin from secretory granules into the blood. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016303 biolink:NamedThing congenitally uncorrected transposition of the great arteries with cardiac malformation tmpte7i6ely_mondo_relaxed.owl TGA with cardiac malformation|congenitally uncorrected transposition of the great vessels with cardiac malformation Orphanet:216729|ICD10:Q20.3 owl:Class MONDO:0100124 biolink:NamedThing NAA10-related syndrome NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl NAA10 X-linked syndromic intellectual disability|X-linked syndromic intellectual disability caused by mutation in NAA10|NAA10-related syndrome http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013659 biolink:NamedThing microcephaly-capillary malformation syndrome tmpte7i6ely_mondo_relaxed.owl MIC-CM syndrome|microcephaly-capillary malformation syndrome|MIC-CAP syndrome|microcephaly-cutaneous capillary malformation syndrome|MICCAP ICD10:Q87.8|OMIM:614261|ICD9:759.89|SCTID:703369003|UMLS:C3280296|Orphanet:294016 owl:Class HGNC:16950 biolink:NamedThing STAMBP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004528 biolink:NamedThing alveolar ridge of mandible tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001684 biolink:NamedThing mandible tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004822 biolink:NamedThing extrahepatic bile duct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q13.31 biolink:NamedThing 3q13.31 (Human) tmpte7i6ely_mondo_relaxed.owl 117600000 113700000 hg38 owl:Class CL:2000013 biolink:NamedThing fibroblast of skin of abdomen Any skin fibroblast that is part of a skin of abdomen. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:18:16Z cell owl:Class CL:0009019 biolink:NamedThing nephrogenic zone cell A kidney cortical cell that is part of the nephrogenic zone. tmpte7i6ely_mondo_relaxed.owl cortical nephrogenic niche cell|cortical nephrogenic zone cell owl:Class UBERON:0009871 biolink:NamedThing nephrogenic zone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1067 biolink:NamedThing BMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:0000015 biolink:NamedThing information carrier A quality of an information bearer that imparts the information content tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016823 biolink:NamedThing mycetoma Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. tmpte7i6ely_mondo_relaxed.owl Madura foot ICD10:B47.0|ICD10:B47.9|MESH:D008271|NCIT:C85505|ICD10:B47|MedDRA:10028427|ICD10:B47.1|Orphanet:2583|GARD:0003862|SCTID:410039003|UMLS:C0024449 owl:Class MONDO:0001888 biolink:NamedThing anus lymphoma A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men. tmpte7i6ely_mondo_relaxed.owl lymphoma of anus|primary anal lymphoma|anus lymphoma|anal lymphoma|lymphoma of the anus DOID:14139|UMLS:C1332268|NCIT:C5601 owl:Class UBERON:0003231 biolink:NamedThing epithelium of hip tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007376 biolink:NamedThing outer epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3527 biolink:NamedThing EZH2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001274 biolink:NamedThing Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. tmpte7i6ely_mondo_relaxed.owl Corpus callosum agenesis|Callosal agenesis|Absence of corpus callosum|Agenesis of the corpus callosum|Dysplastic or absent corpus callosum|Absent corpus callosum UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085|Fyler:4321 HP:0006800 human_phenotype owl:Class MONDO:0009895 biolink:NamedThing postaxial polydactyly-dental and vertebral anomalies syndrome Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. tmpte7i6ely_mondo_relaxed.owl polydactyly, postaxial, with dental and vertebral anomalies UMLS:C1849732|OMIM:263540|ICD10:Q87.2|Orphanet:2916|MESH:C564880 owl:Class MONDO:0002192 biolink:NamedThing vulvar angiokeratoma An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis. tmpte7i6ely_mondo_relaxed.owl mammalian vulva angiokeratoma|angiokeratoma of mammalian vulva|angiokeratoma of Fordyce of mammalian vulva|mammalian vulva angiokeratoma of Fordyce SCTID:402841001|DOID:2066|UMLS:C1274281|NCIT:C8596 owl:Class CL:0000255 biolink:NamedThing eukaryotic cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:1903727 biolink:NamedThing positive regulation of phospholipid metabolic process Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process. tmpte7i6ely_mondo_relaxed.owl up-regulation of phospholipid metabolic process|up-regulation of phospholipid metabolism|upregulation of phospholipid metabolism|activation of phospholipid metabolic process|up regulation of phospholipid metabolic process|upregulation of phospholipid metabolic process|activation of phospholipid metabolism|positive regulation of phospholipid metabolism|up regulation of phospholipid metabolism owl:Class MONDO:0010953 biolink:NamedThing Fanconi anemia complementation group E Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. tmpte7i6ely_mondo_relaxed.owl face|Fanconi anemia caused by mutation in FANCE|Fanconi Anemia, complementation group type E|Fanconi anemia, complementation group E|FANCE|Fanconi anemia complementation group E|FANCE Fanconi anemia|Fanconi anemia complementation group type E OMIM:600901|NCIT:C125709|DOID:0111084|UMLS:C3160739 owl:Class GO:0062023 biolink:NamedThing collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001707 biolink:NamedThing nasal cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008118 biolink:NamedThing odontomatosis-aortae esophagus stenosis syndrome Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. tmpte7i6ely_mondo_relaxed.owl boder syndrome|odontoma-dysphagia syndrome|odontoma dysphagia syndrome|Odontomatosis (multiple odontomas) with dysphagia MESH:C537740|SCTID:716180009|GARD:0000238|Orphanet:2724|OMIM:164330|UMLS:C1834013 owl:Class UBERON:0009200 biolink:NamedThing limb epidermis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005160 biolink:NamedThing vestigial structure tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30829 biolink:NamedThing TUBB2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011196 biolink:NamedThing amyotrophic lateral sclerosis type 5 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis 5, juvenile|amyotrophic lateral sclerosis caused by mutation in SPG11|amyotrophic lateral sclerosis 5|ALS5|SPG11 amyotrophic lateral sclerosis DOID:0060197|Orphanet:300605|MESH:C566576|UMLS:C1865864|OMIM:602099|GARD:0010503 https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5 owl:Class GO:2001257 biolink:NamedThing regulation of cation channel activity Any process that modulates the frequency, rate or extent of cation channel activity. tmpte7i6ely_mondo_relaxed.owl regulation of nonselective cation channel activity|regulation of cation diffusion facilitator activity owl:Class GO:0007265 biolink:NamedThing Ras protein signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. tmpte7i6ely_mondo_relaxed.owl Ras mediated signal transduction owl:Class HGNC:25815 biolink:NamedThing CEP63 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002246 biolink:NamedThing wound healing involved in inflammatory response The series of events that restore integrity to damaged tissue that contribute to an inflammatory response. tmpte7i6ely_mondo_relaxed.owl inflammatory response wound healing|healing during inflammatory response owl:Class GO:0030854 biolink:NamedThing positive regulation of granulocyte differentiation Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. tmpte7i6ely_mondo_relaxed.owl activation of granulocyte differentiation|upregulation of granulocyte differentiation|up-regulation of granulocyte differentiation|up regulation of granulocyte differentiation|stimulation of granulocyte differentiation owl:Class HGNC:4221 biolink:NamedThing GDF6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016534 biolink:NamedThing white matter of temporal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011067 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. tmpte7i6ely_mondo_relaxed.owl DFNB12|autosomal recessive nonsyndromic deafness 12|deafness, autosomal recessive type 12|autosomal recessive nonsyndromic deafness type 12|deafness, autosomal recessive 12|autosomal recessive deafness 12 DOID:0110467|ICD10:H90.3|UMLS:C1832394|OMIM:601386|MESH:C563327 owl:Class MONDO:0014078 biolink:NamedThing platelet-type bleeding disorder 15 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene. tmpte7i6ely_mondo_relaxed.owl macrothrombocytopenia, autosomal dominant, ACTN1-related|BDPLT15|inherited bleeding disorder, platelet-type caused by mutation in ACTN1|ACTN1 inherited bleeding disorder, platelet-type|platelet-type bleeding disorder 15|autosomal dominant macrothrombocytopenia ACTN1-related|bleeding disorder, platelet-type, 15 Orphanet:140957|DOID:0111053|UMLS:C3554663|OMIM:615193 owl:Class MONDO:0014920 biolink:NamedThing patterned macular dystrophy 3 Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene. tmpte7i6ely_mondo_relaxed.owl patterned macular dystrophy type 3|MAPKAPK3 patterned macular dystrophy|patterned macular dystrophy caused by mutation in MAPKAPK3|macular dystrophy, patterned, 3|MDPT3|MCRPE|macular dystrophy, patterned, type 3|Martinique crinkled retinal pigment epitheliopathy OMIM:617111|DOID:0060865|Orphanet:466718|UMLS:C4310713|ICD10:H35.5 owl:Class MONDO:0009666 biolink:NamedThing holocarboxylase synthetase deficiency A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. tmpte7i6ely_mondo_relaxed.owl multiple carboxylase deficiency - neonatal onset|multiple carboxylase deficiency, neonatal form|HLCS deficiency|holocarboxylase synthetase deficiency|early-onset multiple carboxylase deficiency|holocarboxylase synthase deficiency|biotin-(propionyl-CoA-carboxylase) ligase deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|multiple carboxylase deficiency OMIM:253270|ICD10:E53.8|GARD:0002721|ICD9:270.8|UMLS:C0268581|MESH:D028922|ICD10:D81.818|SCTID:360369003|Orphanet:79242|DOID:859|NCIT:C98842|SCTID:15307001 May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency owl:Class HGNC:6637 biolink:NamedThing LMNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003298 biolink:NamedThing vulvar leiomyoma A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl vulvar leiomyoma|leiomyoma of mammalian vulva|mammalian vulva leiomyoma UMLS:C1520087|NCIT:C40326|DOID:5142 owl:Class MONDO:0017940 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. tmpte7i6ely_mondo_relaxed.owl CMT2 due to KIF5A mutation SCTID:764730007|ICD10:G60.0|UMLS:CN204086|Orphanet:324611 owl:Class MONDO:0013074 biolink:NamedThing encephalocraniocutaneous lipomatosis A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. tmpte7i6ely_mondo_relaxed.owl ECCL|Haberland syndrome|Fishman syndrome|encephalocraniocutaneous lipomatosis ICD9:757.8|MESH:C535736|ICD10:E88.2|OMIM:613001|UMLS:C0406612|Orphanet:2396|NCIT:C4701|GARD:0002108|SCTID:238905009 https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis owl:Class HGNC:3688 biolink:NamedThing FGFR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12373 biolink:NamedThing TSHR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003083 biolink:NamedThing trunk neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019668 biolink:NamedThing adenoma of pancreas tmpte7i6ely_mondo_relaxed.owl adenoma of the pancreas|pancreatic adenoma UMLS:C4076724|SCTID:208061000119101|ICD10:D13.6|MESH:C538110|GARD:0004204|UMLS:C1142432|MedDRA:10058902|Orphanet:93292 owl:Class MONDO:0020971 biolink:NamedThing gonococcal urethritis Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. tmpte7i6ely_mondo_relaxed.owl gc urethritis|gonococcal urethritis|Gonococcal urethritis SCTID:236682002|NCIT:C26787|UMLS:C0018078 owl:Class UBERON:0003253 biolink:NamedThing neck of rib tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010388 biolink:NamedThing proximal segment of rib tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024536 biolink:NamedThing glucocorticoid deficiency 1 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene. tmpte7i6ely_mondo_relaxed.owl glucocorticoid deficiency 1|MC2R familial glucocorticoid deficiency|familial glucocorticoid deficiency caused by mutation in MC2R|adrenal unresponsiveness to ACTH|ACTH resistance|familial glucocorticoid deficiency 1|GCCD1 UMLS:C1859974|OMIM:202200|DOID:0080621|Orphanet:361 owl:Class HGNC:6930 biolink:NamedThing MC2R tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904540 biolink:NamedThing positive regulation of glycolytic process through fructose-6-phosphate Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpte7i6ely_mondo_relaxed.owl upregulation of glycolysis through fructose-6-phosphate|up regulation of glycolysis through fructose-6-phosphate|activation of glycolysis through fructose-6-phosphate|positive regulation of glycolysis through fructose-6-phosphate|up regulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolysis through fructose-6-phosphate|upregulation of glycolytic process through fructose-6-phosphate|activation of glycolytic process through fructose-6-phosphate|up-regulation of glycolytic process through fructose-6-phosphate owl:Class MONDO:0005787 biolink:NamedThing hepatic tuberculosis Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. tmpte7i6ely_mondo_relaxed.owl tuberculosis of liver EFO:0007302|MESH:D014386|ICD9:017.90|SCTID:186273003|DOID:407|UMLS:C0041313 owl:Class HGNC:4979 biolink:NamedThing MNX1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013399 biolink:NamedThing blood vessel layer of choroid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000390 biolink:NamedThing lens nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032352 biolink:NamedThing positive regulation of hormone metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpte7i6ely_mondo_relaxed.owl positive regulation of hormone metabolism|up regulation of hormone metabolic process|up-regulation of hormone metabolic process|upregulation of hormone metabolic process|stimulation of hormone metabolic process|activation of hormone metabolic process owl:Class GO:1990266 biolink:NamedThing neutrophil migration The movement of a neutrophil within or between different tissues and organs of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:2679 biolink:NamedThing amphetamine A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine. tmpte7i6ely_mondo_relaxed.owl amphetaminium|anfetamina|Amfetamine|desoxynorephedrine|1-phenyl-2-aminopropane|rac-(2R)-1-phenylpropan-2-amine|Amphetamin|amfetamina|1-Phenylpropan-2-amin|alpha-methylbenzeneethaneamine|beta-Phenylisopropylamin|Amphetamine|Benzedrine|alpha-methylphenylethylamine|rac-amphetamine|beta-phenylisopropylamine|amfetamine|amfetaminum|beta-aminopropylbenzene|amphetamine owl:Class MONDO:0014990 biolink:NamedThing uncombable hair syndrome 3 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene. tmpte7i6ely_mondo_relaxed.owl UHS3|uncombable hair syndrome caused by mutation in TCHH|TCHH uncombable hair syndrome|uncombable hair syndrome type 3|uncombable hair syndrome 3; UHS3|uncombable hair syndrome 3 UMLS:C4310648|OMIM:617252 owl:Class MONDO:0040503 biolink:NamedThing blepharocheilodontic syndrome 2 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene. tmpte7i6ely_mondo_relaxed.owl blepharo-cheilo-odontic syndrome caused by mutation in CTNND1|BLEPHAROCHEILODONTIC syndrome 2|BCDS2|CTNND1 blepharo-cheilo-odontic syndrome DOID:0080346|UMLS:C4540127|OMIM:617681 owl:Class OBO:CHR_9606-chr5q31 biolink:NamedThing 5q31 (Human) tmpte7i6ely_mondo_relaxed.owl 145100000 131200000 hg38 owl:Class HGNC:13398 biolink:NamedThing NSDHL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012900 biolink:NamedThing cardiomyopathy, familial restrictive, 3 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpte7i6ely_mondo_relaxed.owl TNNT2 familial isolated restrictive cardiomyopathy|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, familial restrictive, type 3|cardiomyopathy, familial restrictive, 3|RCM3 OMIM:612422|UMLS:C2676271|MESH:C567316|DOID:0111427|Orphanet:75249 owl:Class GO:0010976 biolink:NamedThing positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpte7i6ely_mondo_relaxed.owl positive regulation of neurite formation|positive regulation of neurite growth|positive regulation of neurite biosynthesis|positive regulation of neurite development owl:Class GO:0031175 biolink:NamedThing neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpte7i6ely_mondo_relaxed.owl neurite outgrowth|neurite development|neurite growth|neurite formation|neurite biosynthesis owl:Class UBERON:0009565 biolink:NamedThing nail of manual digit tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11019 biolink:NamedThing SLC34A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5961 biolink:NamedThing IKBKG tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005854 biolink:NamedThing cervical spinal cord ventral column tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013506 biolink:NamedThing cervical vertebra pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051462 biolink:NamedThing regulation of cortisol secretion Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004936 biolink:NamedThing submucosa of pyloric antrum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012498 biolink:NamedThing congenital stationary night blindness autosomal dominant 1 Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. tmpte7i6ely_mondo_relaxed.owl night blindness, congenital stationary, autosomal dominant type 1|RHO congenital stationary night blindness|rhodopsin-related congenital stationary night blindness|night blindness, congenital stationary, rhodopsin-related|CSNBAD1|congenital stationary night blindness autosomal dominant type 1|night blindness, congenital stationary, autosomal dominant 1|congenital stationary night blindness caused by mutation in RHO UMLS:C1864869|DOID:0110862|OMIM:610445|MESH:C566474 owl:Class HGNC:10012 biolink:NamedThing RHO tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4p biolink:NamedThing 4p (Human) tmpte7i6ely_mondo_relaxed.owl 50000000 0 hg38 owl:Class MONDO:0100058 biolink:NamedThing hypervalinemia and hyperleucine-isoleucinemia Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids. tmpte7i6ely_mondo_relaxed.owl branched-chain aminotransferase deficiency|HVLI|hypervalinemia and hyperleucine-isoleucinemia 2018-08-31 20:51:10+00:00 OMIM:618850 MONDO:0030016 owl:Class HP:0010911 biolink:NamedThing Hyperleucinemia An increased concentration of leucine in the blood. tmpte7i6ely_mondo_relaxed.owl High blood leucine concentration UMLS:C0268576|SNOMEDCT_US:24013007 Normal leucine blood levels are around 120-160 micromole per liter. peter 2010-12-08T08:45:56Z human_phenotype owl:Class HGNC:3806 biolink:NamedThing FOXE1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031947 biolink:NamedThing negative regulation of glucocorticoid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpte7i6ely_mondo_relaxed.owl down-regulation of glucocorticoid biosynthetic process|down regulation of glucocorticoid biosynthetic process|downregulation of glucocorticoid biosynthetic process|inhibition of glucocorticoid biosynthetic process owl:Class MONDO:0018325 biolink:NamedThing juvenile myasthenia gravis Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. tmpte7i6ely_mondo_relaxed.owl juvenile acquired myasthenia|childhood myasthenia gravis|myasthenia gravis of childhood|juvenile autoimmune myasthenia gravis|pediatric myasthenia gravis ICD10:G70.0|Orphanet:391497 owl:Class HGNC:12469 biolink:NamedThing UBA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013950 biolink:NamedThing peroxisome biogenesis disorder 11B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 11B|PBD11B|peroxisome biogenesis disorder type 11B Orphanet:772|Orphanet:44|UMLS:C3554001|OMIM:614885 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100357 biolink:NamedThing non-classic presentation A mild or intermediate form of a genetic disease. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class UBERON:0010172 biolink:NamedThing bulb of aorta tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001496 biolink:NamedThing ascending aorta tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012089 biolink:NamedThing ichthyosis prematurity syndrome Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. tmpte7i6ely_mondo_relaxed.owl ichthyosis-prematurity syndrome|ichthyosis congenita 4|IPS|idiopathic pneumonia syndrome|ichthyosis prematurity syndrome|congenital ichthyosis type 4|ichthyosis congenita IV Orphanet:88621|SCTID:12381000132107|OMIM:608649|GARD:0009886|MESH:C536271|UMLS:C1504431|NCIT:C62590|UMLS:C1837610 https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome owl:Class HGNC:30760 biolink:NamedThing TMEM165 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022103 biolink:NamedThing chronic prostatitis An infectious or non-infectious chronic inflammatory process that affects the prostate gland. tmpte7i6ely_mondo_relaxed.owl Chronic Prostatitis|Chronic prostatitis|chronic prostatitis SCTID:19905009|ICD9:601.1|UMLS:C0085696|NCIT:C26930 owl:Class MONDO:0008039 biolink:NamedThing tropical spastic paraparesis Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. tmpte7i6ely_mondo_relaxed.owl HTLV-associated myelopathy|Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|TSP|ham|HTLV-1 associated myelopathy/tropical spastic paraparesis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis|tropical spastic paralysis|tropical spastic paraplegia|HTLV-1-associated myelopathy/tropical spastic paraparesis|ham/TSP|myelopathy, HTLV-1-associated|tropical spastic paraparesis (formerly)|familial spastic paraparesis, HTLV-1-associated|Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis MedDRA:10044696|GARD:0008208|ICD10:G04.1|SCTID:714279000|OMIM:159580|ICD9:323.01|UMLS:C0030481|DOID:321|Orphanet:289326|MESH:D015493|EFO:0007527 owl:Class MONDO:0012762 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 2 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene. tmpte7i6ely_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 2|CASQ2 catecholaminergic polymorphic ventricular tachycardia|CVPT2|ventricular tachycardia, stress-induced polymorphic|catecholaminergic polymorphic ventricular tachycardia type 2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|CPVT2|catecholaminergic polymorphic ventricular tachycardia 2|ventricular tachycardia, catecholaminergic polymorphic, type 2 DOID:0060676|Orphanet:3286|ICD10:I47.2|OMIM:611938|NCIT:C148368|UMLS:C2677794 owl:Class HGNC:1513 biolink:NamedThing CASQ2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:678 biolink:NamedThing ARHGDIA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051674 biolink:NamedThing localization of cell Any process in which a cell is transported to, and/or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl localisation of cell|establishment and maintenance of localization of cell|cell localization|establishment and maintenance of cell localization owl:Class MONDO:0014935 biolink:NamedThing frontometaphyseal dysplasia 2 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene. tmpte7i6ely_mondo_relaxed.owl frontometaphyseal dysplasia 2; FMD2|MAP3K7 frontometaphyseal dysplasia|Frontometaphyseal dysplasia 2|frontometaphyseal dysplasia caused by mutation in MAP3K7|Frontometaphyseal dysplasia type 2|FMD2 DOID:0111787|UMLS:C4310697|OMIM:617137 owl:Class HGNC:6859 biolink:NamedThing MAP3K7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010285 biolink:NamedThing midbrain basal plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010286 biolink:NamedThing midbrain neural tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014081 biolink:NamedThing severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. tmpte7i6ely_mondo_relaxed.owl CARD11 immunodeficiency|IMD11|immunodeficiency type 11|IMD11A|immunodeficiency 11|SCID due to CARD11 deficiency Orphanet:357237|ICD10:D81.2|OMIM:615206|UMLS:C3554686 owl:Class HGNC:16393 biolink:NamedThing CARD11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019345 biolink:NamedThing shigellosis Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. tmpte7i6ely_mondo_relaxed.owl shigellosis|flexner's dysentery|Shigella boydii infectious disease|Shigella gastroenteritis|bacillary dysentery|japanese dysentery|Shigella dysentery|Shigella sonnei infectious disease|Shigella flexneri infectious disease EFO:0005585|MedDRA:10017915|ICD9:004.2|ICD10:A03|Orphanet:810|ICD9:004|ICD9:004.1|MedDRA:10054178|DOID:12385|ICD10:A03.1|ICD9:004.9|ICD10:A03.2|ICD10:A03.3|SCTID:36188001|MESH:D004405|ICD9:004.0|ICD10:A03.0|GARD:0004818|ICD10:A03.9|KEGG:05131|ICD10:A03.8|ICD9:004.3 https://rarediseases.info.nih.gov/diseases/4818/shigellosis owl:Class NCBITaxon:620 biolink:NamedThing Shigella tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:26834722 ncbi_taxonomy owl:Class MONDO:0001353 biolink:NamedThing Bordetella parapertussis infectious disease Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough. tmpte7i6ely_mondo_relaxed.owl infection caused by Bordetella parapertussis|Bordetella parapertussis disease or disorder|infection due to Bordetella parapertussis|Bordetella parapertussis whooping cough|Bordetella parapertussis caused disease or disorder|Bordetella parapertussis infection ICD9:033.1|UMLS:C0275742|ICD10:A37.1|DOID:11750|SCTID:77116006 owl:Class NCBITaxon:519 biolink:NamedThing Bordetella parapertussis tmpte7i6ely_mondo_relaxed.owl Acinetobacter parapertussis|Bacillus parapertussis|Haemophilus parapertussis GC_ID:11|PMID:8240949|PMID:8782670 ncbi_taxonomy owl:Class GO:0051928 biolink:NamedThing positive regulation of calcium ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl up regulation of calcium ion transport|positive regulation of calcium transport|activation of calcium ion transport|up-regulation of calcium ion transport|upregulation of calcium ion transport|stimulation of calcium ion transport owl:Class GO:0006816 biolink:NamedThing calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl calcium transport|mitochondrial sodium/calcium ion exchange|sodium:calcium exchange owl:Class MONDO:0013484 biolink:NamedThing cataract 36 Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. tmpte7i6ely_mondo_relaxed.owl CATC4|autosomal recessive congenital cataract 4|cataract type 36|CTRCT36|cataract 36|cataract, autosomal recessive congenital 4|TDRD7 cataract (disease)|cataract (disease) caused by mutation in TDRD7 DOID:0110247|UMLS:C3151304|OMIM:613887 owl:Class HGNC:30831 biolink:NamedThing TDRD7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002685 biolink:NamedThing childhood choroid plexus carcinoma A choroid plexus carcinoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl choroid plexus carcinoma of childhood|childhood choroid plexus carcinoma|childhood choroid plexus cancer|pediatric choroid plexus carcinoma|childhood choroid plexus neoplasm NCIT:C42080|DOID:3545|NCIT:C124292|UMLS:C0280623 owl:Class NCBITaxon:5811 biolink:NamedThing Toxoplasma gondii tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003114 biolink:NamedThing pharyngeal arch 3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9940 biolink:NamedThing RDH5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060097 biolink:NamedThing cytoskeletal rearrangement involved in phagocytosis, engulfment The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010011 biolink:NamedThing collection of basal ganglia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010130 biolink:NamedThing embryonic autopod plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008717 biolink:NamedThing acromesomelic dysplasia 2C, Hunter-Thompson type Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. tmpte7i6ely_mondo_relaxed.owl AMDH|acromesomelic dysplasia Hunter Thompson type|acromesomelic dwarfism|acromesomelic dysplasia, Hunter-Thompson type GARD:0000506|OMIM:201250|DOID:0080051|Orphanet:968|ICD10:Q78.8 owl:Class UBERON:0004088 biolink:NamedThing orbital region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014478 biolink:NamedThing mirror movements 3 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene. tmpte7i6ely_mondo_relaxed.owl mirror movements type 3|DNAL4 familial congenital mirror movements|mirror movements 3|MRMV3|familial congenital mirror movements caused by mutation in DNAL4 Orphanet:238722|OMIM:616059|UMLS:C4015124 owl:Class HGNC:2955 biolink:NamedThing DNAL4 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001606 biolink:NamedThing foreskin keratinocyte Keratinocyte from foreskin. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0385 owl:Class UBERON:0035240 biolink:NamedThing posterior wall of oropharynx tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000494 biolink:NamedThing nephron tubule epithelial cell An epithelial cell that is part of a nephron tubule. tmpte7i6ely_mondo_relaxed.owl kidney tubule epithelial cell FMA:86785|KUPO:0001022 This needs to be further defined as a juxtamedullary nephron. Will request the juxtamedullary nephron tubule class from UBERON. cell owl:Class HGNC:3416 biolink:NamedThing EPOR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001517 biolink:NamedThing skin of elbow tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0090368 biolink:NamedThing regulation of ornithine metabolic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006591 biolink:NamedThing ornithine metabolic process The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpte7i6ely_mondo_relaxed.owl ornithine metabolism owl:Class UBERON:0010913 biolink:NamedThing vertebral element tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12403 biolink:NamedThing TTN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002168 biolink:NamedThing left lung tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000803 biolink:NamedThing kidney inner medulla interstitial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001093 cell owl:Class MONDO:0010915 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 4A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 4|deafness, autosomal dominant 4A|DFNA4A|autosomal dominant nonsyndromic deafness caused by mutation in MYH14|autosomal dominant nonsyndromic deafness 4A|autosomal dominant deafness 4A|deafness, autosomal dominant type 4A|autosomal dominant nonsyndromic deafness type 4A|MYH14 autosomal dominant nonsyndromic deafness DOID:0110573|ICD10:H90.3|OMIM:600652|MESH:C563460|UMLS:C1833503 owl:Class UBERON:0001735 biolink:NamedThing tonsillar ring tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:32523 biolink:NamedThing Tetrapoda tmpte7i6ely_mondo_relaxed.owl tetrapods GC_ID:1 ncbi_taxonomy owl:Class CL:0007004 biolink:NamedThing premigratory neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. tmpte7i6ely_mondo_relaxed.owl haendel 2012-06-27T08:27:35Z cell owl:Class HGNC:29168 biolink:NamedThing RPGRIP1L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001154 biolink:NamedThing Siberian tick typhus A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash. tmpte7i6ely_mondo_relaxed.owl Rickettsia sibirica spotted fever|North Asian tick fever|North Asian tick typhus|North Asian tick fever (disorder) [ambiguous]|Manchurian typhus ICD10:A77.2|ICD9:082.2|DOID:10921|UMLS:C0549160|SCTID:186781003 owl:Class HGNC:19048 biolink:NamedThing ASPM tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002722 biolink:NamedThing trochlear nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000316 biolink:NamedThing cervical mucus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001136 biolink:NamedThing chylocele of tunica vaginalis tmpte7i6ely_mondo_relaxed.owl ICD9:608.84|SCTID:7864001|DOID:10835|UMLS:C0156315 owl:Class UBERON:0002215 biolink:NamedThing synchondrosis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001994 biolink:NamedThing hyaline cartilage tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010362 biolink:NamedThing glycogen storage disease IXd A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. tmpte7i6ely_mondo_relaxed.owl muscular phosphorylase kinase deficiency|glycogenosis type 9D|glycogenosis type IXd|GSD type IXd|muscle phosphorylase kinase deficiency|GSD Vb|glycogen storage disease type 9D|GSD IXd|PHKA1 glycogen storage disease|glycogen storage disease type IXd|glycogen storage disease caused by mutation in PHKA1|glycogen storage disease due to muscle phosphorylase kinase deficiency|muscle glycogenosis, X-linked|glycogen storage disease, type IXd|GSD type 9D|GSD9D|GSD due to muscle phosphorylase kinase deficiency|PHKA1-related glycogen storage disease type IX|glycogenosis due to muscle phosphorylase kinase deficiency OMIM:300559|MESH:C564485|DOID:0111040|Orphanet:715|GARD:0003858|ICD10:E74.0 https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency owl:Class HGNC:8925 biolink:NamedThing PHKA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011162 biolink:NamedThing cataract 14 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene. tmpte7i6ely_mondo_relaxed.owl zonular pulverulent cataract 3|GJA3 early-onset non-syndromic cataract|Cae3|cataract, zonular pulverulent 3|cataract 14, multiple types|CTRCT14|early-onset non-syndromic cataract caused by mutation in GJA3|CZP3|CAE3 MESH:C566608|OMIM:601885|Orphanet:98984|Orphanet:98991|DOID:0110253|Orphanet:98993|Orphanet:91492|ICD10:Q12.0|UMLS:C1866078 owl:Class MONDO:0008306 biolink:NamedThing ABri amyloidosis A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. tmpte7i6ely_mondo_relaxed.owl Bri amyloidosis|familial British dementia|FBD|cerebral amyloid angiopathy, ITM2B-related, type 1|dementia, familial British|dementia familial British|cerebral amyloid angiopathy, ITM2B-RELATED, 1|presenile dementia with spastic ataxia|ABri amyloidosis|ITM2B-related cerebral amyloid angiopathy 1|cerebral amyloid angiopathy, British type|familial dementia, British type GARD:0008344|OMIM:176500|MESH:C538208|ICD10:I68.0*|UMLS:C1867773|ICD10:E85.4+|Orphanet:97345|DOID:0070029 https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british owl:Class UBERON:0001488 biolink:NamedThing ankle joint tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004229 biolink:NamedThing urinary bladder trigone smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011203 biolink:NamedThing Pierre Robin sequence with pectus excavatum and rib and scapular anomalies tmpte7i6ely_mondo_relaxed.owl skeletal dysplasia related to campomelic dysplasia|Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|campomelic dysplasia, mild MESH:C535775|Orphanet:140|UMLS:C1865783|GARD:0010090|OMIM:602196 https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies owl:Class HP:0000201 biolink:NamedThing Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. tmpte7i6ely_mondo_relaxed.owl Robin sequence|Pierre-robin malformation|Pierre-robin anomaly|Pierre-robin deformity|Pierre Robin sequence UMLS:C0031900|MSH:D010855|SNOMEDCT_US:4602007 human_phenotype owl:Class MONDO:0014906 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B|CMT2A2B|Charcot-Marie-Tooth disease type 2A2B DOID:0111557|OMIM:617087|UMLS:C4310725|NCIT:C150647 owl:Class CL:1001592 biolink:NamedThing gall bladder glandular cell Glandular cell of gall bladder epithelium. tmpte7i6ely_mondo_relaxed.owl gall bladder glandular cells|gallbladder glandular cell|gallbladder glandular cells CALOHA:TS-1278 owl:Class MONDO:0044212 biolink:NamedThing chronic idiopathic urticaria Chronic form of idiopathic urticaria. tmpte7i6ely_mondo_relaxed.owl chronic idiopathic urticaria|idiopathic urticaria, chronic UMLS:C0578870|SCTID:302162004 owl:Class UBERON:0005754 biolink:NamedThing rostral part of nephrogenic cord tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001553 biolink:NamedThing luteinization The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. tmpte7i6ely_mondo_relaxed.owl luteal phase owl:Class MONDO:0100093 biolink:NamedThing myoclonus, familial, 1 Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. tmpte7i6ely_mondo_relaxed.owl myoclonus, familial cortical|MYOCL1|FCM OMIM:614937 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010816 biolink:NamedThing Qazi Markouizos syndrome Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. tmpte7i6ely_mondo_relaxed.owl hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|Dysharmonic skeletal maturation - muscular fibre disproportion|Puertorican infant hypotonia syndrome|PUERTO RICAN infant hypotonia syndrome|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|Qazi-Markouizos syndrome|Dysharmonic skeletal maturation muscular fibre disproportion Orphanet:3010|ICD10:Q87.8|SCTID:721887007|OMIM:600096|DOID:0050740|UMLS:C2931142|GARD:0000371|MESH:C536259 https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome owl:Class OBO:CHR_9606-chr8p biolink:NamedThing 8p (Human) tmpte7i6ely_mondo_relaxed.owl 45200000 0 hg38 owl:Class GO:0071621 biolink:NamedThing granulocyte chemotaxis The movement of a granulocyte in response to an external stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7678 biolink:NamedThing NDP tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1659 biolink:NamedThing Actinomyces israelii tmpte7i6ely_mondo_relaxed.owl Actinobacterium israeli|Cohnistreptothrix israeli|Corynebacterium israeli|Discomyces israeli|Proactinomyces israeli|Oospora israeli|Nocardia israeli|Brevistreptothrix israeli|Streptothrix israeli PMID:30186281|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011151 biolink:NamedThing exudative vitreoretinopathy 4 tmpte7i6ely_mondo_relaxed.owl exudative vitreoretinopathy type 4|EVR4|exudative vitreoretinopathy 4 UMLS:C1866176|DOID:0111411|OMIM:601813|Orphanet:891|MESH:C566619 owl:Class HGNC:4284 biolink:NamedThing GJB2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26147 biolink:NamedThing AGBL5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001252 biolink:NamedThing adventitia of ureter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000278 biolink:NamedThing mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. tmpte7i6ely_mondo_relaxed.owl mitosis owl:Class GO:0005773 biolink:NamedThing vacuole A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. tmpte7i6ely_mondo_relaxed.owl vacuolar carboxypeptidase Y owl:Class OBO:CHR_9606-chr16p11 biolink:NamedThing 16p11 (Human) tmpte7i6ely_mondo_relaxed.owl 36800000 28500000 hg38 owl:Class ENVO:01001299 biolink:NamedThing atmospheric zone An environmental zone which is part of an atmosphere. tmpte7i6ely_mondo_relaxed.owl atmospheric area owl:Class MONDO:0100475 biolink:NamedThing severe ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2360 owl:Class MONDO:0006207 biolink:NamedThing fallopian tube carcinosarcoma A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl fallopian tube malignant mixed mesodermal (Müllerian) tumor|fallopian tube malignant mixed mesodermal (mullerian) tumor|fallopian tube carcinosarcoma|fallopian tube malignant mixed Mullerian tumor NCIT:C40124|EFO:1000252|DOID:1970|UMLS:C1517117 owl:Class HGNC:1987 biolink:NamedThing CITED2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CP_0000028 biolink:NamedThing basophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. tmpte7i6ely_mondo_relaxed.owl tmeehan 2009-12-22T04:24:54Z cell owl:Class ENVO:00000100 biolink:NamedThing valley A depression which has been formed as a result of erosion by water or ice and which is low-lying, bordered by higher ground, and especially elongate. tmpte7i6ely_mondo_relaxed.owl dale|graben|moat|vale|glacial trough|coulee|glacial gorge|shelf valley|strath|goe|seachannel|trench|gulch|gorge|re-entrant|median valley|lavaka|ravine|chasm|hollow|water gap|gully|glen owl:Class ENVO:02500028 biolink:NamedThing planetary erosion An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015803 biolink:NamedThing wound botulism Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. tmpte7i6ely_mondo_relaxed.owl cutaneous infectious botulism|skin infectious botulism|inoculation botulism|cutaneous toxin-mediated botulism|skin toxin-mediated botulism SCTID:398530003|ICD10:A48.52|UMLS:C1306794|Orphanet:178475|DOID:0050353|NCIT:C128342|ICD9:040.42|ICD10:A05.1 owl:Class NCBITaxon:36831 biolink:NamedThing Clostridium botulinum F tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:8863443 ncbi_taxonomy owl:Class MONDO:0015001 biolink:NamedThing atrial fibrillation, familial, 18 Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, 18|familial atrial fibrillation caused by mutation in MYL4|atrial fibrillation, familial, 18; ATFB18|atrial fibrillation, familial, type 18|ATFB18|MYL4 familial atrial fibrillation OMIM:617280|UMLS:C4310636 owl:Class HGNC:7585 biolink:NamedThing MYL4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045765 biolink:NamedThing regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045917 biolink:NamedThing positive regulation of complement activation Any process that activates or increases the frequency, rate or extent of complement activation. tmpte7i6ely_mondo_relaxed.owl positive regulation of complement cascade|up regulation of complement activation|activation of complement activation|stimulation of complement activation|upregulation of complement activation|up-regulation of complement activation owl:Class MONDO:0008759 biolink:NamedThing oxoglutaricaciduria Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. tmpte7i6ely_mondo_relaxed.owl ALPHA-ketoglutarate dehydrogenase deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency|Alpha KGD deficiency|Alpha-ketoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency|Oxoglutaric aciduria SCTID:733630004|MESH:C536582|UMLS:C2752074|OMIM:203740|ICD10:E88.8|Orphanet:31|GARD:0000617 owl:Class MONDO:0009161 biolink:NamedThing Ehlers-Danlos syndrome, dermatosparaxis type A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome type 7C (formerly)|dEDS|EDS VIIC|dermatosparaxis Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VII, autosomal recessive|Ehlers-Danlos syndrome type 7C|dermatosparaxis|EDS7C|dermatosparaxis EDS|EDS 7C|Ehlers-Danlos syndrome, dermatosparaxis type|EDSDERMS GARD:0002089|SCTID:55711009|ICD10:Q79.6|Orphanet:1901|OMIM:225410|MESH:C567527 owl:Class MONDO:0044211 biolink:NamedThing idiopathic urticaria tmpte7i6ely_mondo_relaxed.owl idiopathic angioedema-urticaria UMLS:C0157741|ICD10:L50.1|ICD9:708.1|SCTID:42265009 owl:Class MONDO:0700005 biolink:NamedThing idiopathic A disease characteristic in which the disease has an uncertain or unknown cause. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:8950 biolink:NamedThing SERPINB6 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001581 biolink:NamedThing sea surface layer A surface layer which is part of an ocean or sea. tmpte7i6ely_mondo_relaxed.owl owl:Class N09a1fad7301749659e40abdb19483c0c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0054813 biolink:NamedThing Ehlers-Danlos syndrome, classic-like, 2 tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, classic-like, 2|EDSCLL2 Orphanet:536532|UMLS:CN248508|OMIM:618000 owl:Class OBO:CP_0000037 biolink:NamedThing increased nucleus size A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. tmpte7i6ely_mondo_relaxed.owl tmeehan 2009-12-23T10:53:24Z cell owl:Class MONDO:0032625 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 21 tmpte7i6ely_mondo_relaxed.owl MC1DN21|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 OMIM:618242 owl:Class HGNC:20278 biolink:NamedThing NUBPL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003858 biolink:NamedThing lower eyelid mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004332 biolink:NamedThing fructose-bisphosphate aldolase activity Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate. tmpte7i6ely_mondo_relaxed.owl fructose 1-monophosphate aldolase activity|fructose 1,6-diphosphate aldolase activity|aldolase activity|1,6-diphosphofructose aldolase activity|fructose diphosphate aldolase activity|SMALDO|ketose 1-phosphate aldolase activity|phosphofructoaldolase activity|diphosphofructose aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming)|zymohexase activity|fructoaldolase activity|fructose-1,6-bisphosphate triosephosphate-lyase activity|fructose 1-phosphate aldolase activity owl:Class MONDO:0014531 biolink:NamedThing amyotrophic lateral sclerosis type 22 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene. tmpte7i6ely_mondo_relaxed.owl ALS 22|amyotrophic lateral sclerosis 22|amyotrophic lateral sclerosis type 22|TUBA4A amyotrophic lateral sclerosis|ALS22|amyotrophic lateral sclerosis caused by mutation in TUBA4A|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia DOID:0060355|Orphanet:803|UMLS:C4015512|OMIM:616208 owl:Class HGNC:12407 biolink:NamedThing TUBA4A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000933 biolink:NamedThing subglottis neoplasm A benign or malignant neoplasm that affects the subglottic area of the larynx. tmpte7i6ely_mondo_relaxed.owl neoplasm of subglottis|neoplasm of the subglottis|tumor of the subglottis|tumor of subglottis|subglottic tumor|subglottis tumor|subglottis neoplasm|subglottis neoplasm (disease)|subglottic neoplasm UMLS:C0345746|NCIT:C4426|DOID:10069|SCTID:126696001 owl:Class NCBITaxon:172148 biolink:NamedThing Alkhumra hemorrhagic fever virus tmpte7i6ely_mondo_relaxed.owl AHFV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001099 biolink:NamedThing lactocele Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice. tmpte7i6ely_mondo_relaxed.owl galactocele|lacteal cyst|Galactocoele ICD10:N64.89|MESH:C535998|DOID:10686|SCTID:42385006|NCIT:C3515|ICD9:611.5|GARD:0008401 owl:Class UBERON:0011818 biolink:NamedThing superficial fascia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003205 biolink:NamedThing renal pelvis adenocarcinoma A carcinoma that arises from glandular epithelial cells of the renal pelvis tmpte7i6ely_mondo_relaxed.owl renal pelvis adenocarcinoma|adenocarcinoma of the renal pelvis|adenocarcinoma of the kidney pelvis|adenocarcinoma of renal pelvis|kidney renal pelvis adenocarcinoma|kidney pelvis adenocarcinoma|adenocarcinoma of kidney pelvis NCIT:C6143|DOID:4918|UMLS:C1335748 owl:Class UBERON:0018691 biolink:NamedThing ventral side of post-anal tail tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012918 biolink:NamedThing primary ciliary dyskinesia 10 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene. tmpte7i6ely_mondo_relaxed.owl CILD10|primary ciliary dyskinesia caused by mutation in DNAAF2|ciliary dyskinesia, primary, 10, with or without situs inversus|ciliary dyskinesia, primary, type 10|DNAAF2 primary ciliary dyskinesia|primary ciliary dyskinesia 10 with or without situs inversus|primary ciliary dyskinesia type 10|ciliary dyskinesia, primary, 10 DOID:0110612|MESH:C567287|OMIM:612518|UMLS:C2675867|ICD10:Q34.8 owl:Class HGNC:26944 biolink:NamedThing TMEM138 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010299 biolink:NamedThing scleral mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp2 biolink:NamedThing Xp2 (Human) tmpte7i6ely_mondo_relaxed.owl 37800000 0 hg38 owl:Class MONDO:0016196 biolink:NamedThing qualitative or quantitative defects of emerin tmpte7i6ely_mondo_relaxed.owl Orphanet:209188 owl:Class HGNC:3331 biolink:NamedThing EMD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019544 biolink:NamedThing cocaine intoxication tmpte7i6ely_mondo_relaxed.owl Orphanet:90068|SCTID:27956007|ICD10:T40.5|ICD9:292.89 owl:Class CHEBI:22586 biolink:NamedThing antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. tmpte7i6ely_mondo_relaxed.owl antioxydant|antoxidant|antioxidants owl:Class UBERON:0005034 biolink:NamedThing mucosa of right main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002177 biolink:NamedThing right main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001152 biolink:NamedThing cystic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002605 biolink:NamedThing hepatic angiomyolipoma An angiomyolipoma arising from the liver. tmpte7i6ely_mondo_relaxed.owl liver angiomyolipoma|liver PEComa UMLS:C1333962|NCIT:C27485|DOID:3317 owl:Class UBERON:0001844 biolink:NamedThing cochlea tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005980 biolink:NamedThing glycogen catabolic process The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. tmpte7i6ely_mondo_relaxed.owl glycogen degradation|glycogenolysis|glycogen catabolism|glycogen breakdown owl:Class UBERON:0006648 biolink:NamedThing adventitia of seminal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006965 biolink:NamedThing vascular cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021242 biolink:NamedThing sublingual gland neoplasm A neoplasm (disease) that involves the sublingual gland. tmpte7i6ely_mondo_relaxed.owl neoplasm of the sublingual gland|tumor of the sublingual gland|neoplasm of sublingual gland|sublingual gland tumor|sublingual gland neoplasm (disease)|tumor of sublingual gland NCIT:C3392|SCTID:126790004|EFO:1001430|MESH:D013362|UMLS:C0038554 owl:Class MONDO:0005178 biolink:NamedThing osteoarthritis A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. tmpte7i6ely_mondo_relaxed.owl degenerative joint disease|osteoarthrosis|degenerative arthritis|hypertrophic arthritis|osteoarthrosis and allied disorder UMLS:C0029408|SCTID:396275006|OMIM:165720|EFO:0002506|ICD10:M19|GARD:0011929|OMIM:612400|OMIM:612401|ICD9:715.3|OMIM:140600|OMIM:607850|DOID:8398|MESH:D010003|HP:0002758|OMIM:610839|NCIT:C3293 https://github.com/monarch-initiative/mondo/issues/1395 owl:Class MONDO:0000492 biolink:NamedThing chronic venous insufficiency Chronic form of venous insufficiency (disease). tmpte7i6ely_mondo_relaxed.owl chronic venous insufficiency (disease)|venous insufficiency (disease), chronic UMLS:C1306557|DOID:0050853|EFO:0007940 owl:Class GO:0097690 biolink:NamedThing iron ion transmembrane transporter inhibitor activity Binds to and stops, prevents, or reduces the activity of an iron ion transmembrane transporter. tmpte7i6ely_mondo_relaxed.owl iron channel inhibitor activity owl:Class FOODON:03420294 biolink:NamedThing fruit peel (anatomical part) The rind or skin of fruit tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010129 biolink:NamedThing femur cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014225 biolink:NamedThing hemochromatosis type 5 Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene. tmpte7i6ely_mondo_relaxed.owl iron overload, autosomal dominant|hereditary hemochromatosis caused by mutation in FTH1|FTH1 hereditary hemochromatosis|FTH1-related iron overload|FTH1-associated iron overload|HFE5|hemochromatosis, type 5 DOID:0111031|Orphanet:447792|UMLS:CN181217|OMIM:615517|MESH:C565020|UMLS:C1851316|ICD10:E83.1|Orphanet:247790|UMLS:CN237708 Editor notes: ORDO treats this as two diseases owl:Class HGNC:3976 biolink:NamedThing FTH1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2988 biolink:NamedThing DOCK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011413 biolink:NamedThing cataract 9 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene. tmpte7i6ely_mondo_relaxed.owl cataract, autosomal dominant|cataract 9 multiple types with or without microcornea|cataract (disease) caused by mutation in CRYAA|cataract 9, multiple types|cataract 9, multiple types, with or without microcornea|CRYAA cataract (disease)|cataract, autosomal recessive congenital 1|CATC1|CTRCT9|autosomal recessive congenital cataract 1 DOID:0110266|UMLS:C1858679|Orphanet:91492|ICD10:Q12.0|Orphanet:98995|OMIM:604219|Orphanet:98991|Orphanet:1377 owl:Class HGNC:2388 biolink:NamedThing CRYAA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008380 biolink:NamedThing RNA splicing The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. tmpte7i6ely_mondo_relaxed.owl pre-mRNA splicing factor activity owl:Class UBERON:0001096 biolink:NamedThing wall of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014836 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2CC Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2Cc|Charcot-Marie-Tooth disease, axonal, type 2CC|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy type 2CC|CMT2CC|Charcot-Marie-Tooth disease, axonal, type 2cc|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth disease axonal type 2CC DOID:0110180|UMLS:C4310790|OMIM:616924 owl:Class UBERON:0009778 biolink:NamedThing pleural sac tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2032 biolink:NamedThing CLDN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013570 biolink:NamedThing combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, hypertrophic mitochondrial, fatal infantile|combined oxidative phosphorylation deficiency 8|COXPD8|combined oxidative phosphorylation deficiency type 8|AARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in AARS2 ICD10:I42.2|DOID:0111479|UMLS:C3279793|Orphanet:319504|OMIM:614096|SCTID:733600007|UMLS:C4518839 owl:Class MONDO:0011805 biolink:NamedThing asthma-related traits, susceptibility to, 1 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene. tmpte7i6ely_mondo_relaxed.owl inherited susceptibility to asthma caused by mutation in PTGDR|asthma-related traits, susceptibility to, 1|AS1|asthma-related traits, susceptibility to, type 1|ASRT1|PTGDR inherited susceptibility to asthma UMLS:C1846534|OMIM:607277 owl:Class UBERON:0013748 biolink:NamedThing ulnar metaphysis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007425 biolink:NamedThing decussation of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002414 biolink:NamedThing lumbar vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014165 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 3 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. tmpte7i6ely_mondo_relaxed.owl MCAHS3|multiple congenital anomalies-hypotonia-seizures syndrome type 3|PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|glycosylphosphatidylinositol biosynthesis defect 7|multiple congenital anomalies-hypotonia-seizures syndrome 3|congenital disorder of glycosylation due to PIGT deficiency|PIGT-CDG|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|MCAHS type 3 OMIM:615398|DOID:0080140|UMLS:C3809356|ICD10:Q87.8|Orphanet:369837 owl:Class HGNC:14938 biolink:NamedThing PIGT tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:29745 biolink:NamedThing barbiturate Conjugate base of barbituric acid. tmpte7i6ely_mondo_relaxed.owl barbiturate anion|2,4,6-trioxotetrahydro-2H-pyrimidin-1-ide owl:Class CHEBI:16294 biolink:NamedThing barbituric acid A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups. Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active. tmpte7i6ely_mondo_relaxed.owl 2,4,6(1H,3H,5H)-pyrimidinetrione|Malonylharnstoff|pyrimidine-2,4,6(1H,3H,5H)-trione|Barbituric acid|Malonylurea|Barbitursaeure owl:Class HGNC:1318 biolink:NamedThing C3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006183 biolink:NamedThing mesonephric glomerular capillary tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032058 biolink:NamedThing positive regulation of translational initiation in response to stress Any process that activates or increases the frequency, rate or extent of translation initiation as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl upregulation of translation initiation in response to stress|activation of translation initiation in response to stress|up regulation of translation initiation in response to stress|up-regulation of translation initiation in response to stress|stimulation of translation initiation in response to stress owl:Class GO:0006413 biolink:NamedThing translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpte7i6ely_mondo_relaxed.owl translation initiation|protein synthesis initiation|biopolymerization|biopolymerisation owl:Class Nc9bed9cae2694f6588b7ad9a3ea8720f biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0007735 biolink:NamedThing metacarpophalangeal joint of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010574 biolink:NamedThing manual digit 5 metacarpus cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009036 biolink:NamedThing appendix macrophage A macrophage located in the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl macrophage of vermiform appendix|macrophage of appendix|macrophage of appendix vermiformis owl:Class UBERON:0005956 biolink:NamedThing outflow part of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002534 biolink:NamedThing cytokine production involved in inflammatory response The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl cytokine production involved in acute inflammatory response owl:Class MONDO:0014383 biolink:NamedThing myopathy, tubular aggregate, 2 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. tmpte7i6ely_mondo_relaxed.owl tubular aggregate myopathy caused by mutation in ORAI1|TAM2|ORAI1 tubular aggregate myopathy|myopathy, tubular aggregate, 2|myopathy, tubular aggregate, type 2 OMIM:615883|Orphanet:2593|UMLS:C4014557 owl:Class MONDO:0013401 biolink:NamedThing hereditary spastic paraplegia 51 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene. tmpte7i6ely_mondo_relaxed.owl CPSQ4|cerebral palsy, spastic quadriplegic, 4, formerly|hereditary spastic paraplegia caused by mutation in AP4E1|spastic paraplegia 51, autosomal recessive|cerebral palsy, spastic quadriplegic, 4|AP4E1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 51|hereditary spastic paraplegia type 51|spastic quadriplegic cerebral palsy 4|SPG51 Orphanet:280763|OMIM:613744|DOID:0110803|GARD:0010999|UMLS:C3151056 owl:Class HGNC:573 biolink:NamedThing AP4E1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005020 biolink:NamedThing mucosa of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013491 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability tmpte7i6ely_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability|MLC2B DOID:0080317|Orphanet:2478|OMIM:613926|UMLS:C3151356 owl:Class HGNC:26361 biolink:NamedThing HEPACAM tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000199 biolink:NamedThing mechanoreceptor cell A cell specialized to transduce mechanical stimuli and relay that information centrally in the nervous system. tmpte7i6ely_mondo_relaxed.owl mechanoreceptor cell owl:Class MONDO:0008408 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal dominant tmpte7i6ely_mondo_relaxed.owl SPSMA|scapuloperoneal spinal muscular atrophy|scapuloperoneal neuronopathy|amyotrophy, neurogenic scapuloperoneal, New England type|neurogenic scapuloperoneal amyotrophy, New England type GARD:0010314|ICD9:335.19|EFO:1001992|Orphanet:431255|ICD10:G12.1|OMIM:181405|SCTID:230248006|DOID:0111552 owl:Class MONDO:0011984 biolink:NamedThing synpolydactyly type 2 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene. tmpte7i6ely_mondo_relaxed.owl synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|SD2b|non-syndromic synpolydactyly caused by mutation in FBLN1|SD2, Debeer type|synpolydactyly, Debeer type|SPD2|synpolydactyly type 2|SPD, Debeer type|FBLN1 non-syndromic synpolydactyly|synpolydactyly 2 Orphanet:93403|ICD10:Q70.0|MESH:C564278|UMLS:C1842422|Orphanet:295197|OMIM:608180|ICD10:Q70.2 owl:Class MONDO:0100101 biolink:NamedThing fetal akinesia deformation sequence 1 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene. tmpte7i6ely_mondo_relaxed.owl Pena-Shokeir syndrome type 1|FADS1|Pena-Shokeir syndrome, type 1 Orphanet:994|DOID:0111377|OMIM:208150 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:7525 biolink:NamedThing MUSK tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003684 biolink:NamedThing abdominal cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035819 biolink:NamedThing abdominopelvic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013411 biolink:NamedThing cranial cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004058 biolink:NamedThing biliary ductule tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000216 biolink:NamedThing Sertoli cell A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. tmpte7i6ely_mondo_relaxed.owl VHOG:0001348|BTO:0001238|FMA:72298|CALOHA:TS-0922 cell owl:Class MONDO:0013489 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 89 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in KARS|deafness, autosomal recessive 89|autosomal recessive nonsyndromic deafness type 89|deafness, autosomal recessive type 89|KARS autosomal recessive nonsyndromic deafness|DFNB89|autosomal recessive nonsyndromic deafness 89|autosomal recessive deafness 89 DOID:0110534|UMLS:C3151351|Orphanet:90636|ICD10:H90.3|OMIM:613916 owl:Class HGNC:6215 biolink:NamedThing KARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003360 biolink:NamedThing epithelium of parotid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019975 biolink:NamedThing pellagra Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. tmpte7i6ely_mondo_relaxed.owl niacin-tryptophan deficiency|pellagra|niacin deficiency UMLS:C0030783|SCTID:418279001|MedDRA:10029400|GARD:0010014|UMLS:C4317126|EFO:0008570|Orphanet:97352|ICD9:265.2|ICD10:E52|DOID:8457|MESH:D010383 https://rarediseases.info.nih.gov/diseases/10014/pellagra owl:Class HP:0100497 biolink:NamedThing Vitamin B3 deficiency tmpte7i6ely_mondo_relaxed.owl Vitamin B3 deficiency UMLS:C0030783|SNOMEDCT_US:418186002|MSH:D010383|SNOMEDCT_US:418279001 doelkens 2010-12-17T04:14:51Z human_phenotype owl:Class NCBITaxon:6248 biolink:NamedThing Strongyloides stercoralis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chrXp22.3 biolink:NamedThing Xp22.3 (Human) tmpte7i6ely_mondo_relaxed.owl 9600000 0 hg38 owl:Class MONDO:0004624 biolink:NamedThing uvula cancer A malignant neoplasm involving the palatine uvula. tmpte7i6ely_mondo_relaxed.owl malignant uvular neoplasm|malignant uvula tumour|malignant palatine uvula neoplasm|malignant tumor of uvula|malignant uvula neoplasm|palatine uvula cancer|cancer of palatine uvula|malignant neoplasm of palatine uvula|malignant uvular tumor|malignant uvula tumor|malignant uvular tumour SCTID:363389001|DOID:8635|ICD10:C05.2|ICD9:145.4|NCIT:C35177|UMLS:C0153377 owl:Class GO:0045058 biolink:NamedThing T cell selection The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. tmpte7i6ely_mondo_relaxed.owl T lymphocyte selection|T-cell selection|T-lymphocyte selection owl:Class MONDO:0014910 biolink:NamedThing primary ciliary dyskinesia 35 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene. tmpte7i6ely_mondo_relaxed.owl CILD35|ciliary dyskinesia, primary, 35|primary ciliary dyskinesia 35 with or without situs inversus|ciliary dyskinesia, primary, 35, with or without situs inversus|TTC25 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 35|primary ciliary dyskinesia caused by mutation in TTC25|primary ciliary dyskinesia type 35 UMLS:C4310721|OMIM:617092|DOID:0110620 owl:Class HGNC:25280 biolink:NamedThing ODAD4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013196 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 8 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. tmpte7i6ely_mondo_relaxed.owl EPCAM hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in EPCAM|colorectal cancer, hereditary nonpolyposis, type 8|HNPCC8 OMIM:613244|MESH:C567685|DOID:0070270|UMLS:C2750471|Orphanet:144 owl:Class NCBITaxon:6183 biolink:NamedThing Schistosoma mansoni tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014780 biolink:NamedThing palatine aponeurosis tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3p biolink:NamedThing 3p (Human) tmpte7i6ely_mondo_relaxed.owl 90900000 0 hg38 owl:Class UBERON:0004016 biolink:NamedThing dermatome tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7720 biolink:NamedThing NEB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015871 biolink:NamedThing facial lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012763 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 6 An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene. tmpte7i6ely_mondo_relaxed.owl childhood absence epilepsy caused by mutation in CACNA1H|susceptibility to childhood absence epilepsy 6|epilepsy, childhood absence, susceptibility to, 6|ECA6|epilepsy, idiopathic generalized, susceptibility to, 6|epilepsy, childhood absence, susceptibility to, type 6|CACNA1H childhood absence epilepsy Orphanet:64280|OMIM:611942 owl:Class HGNC:1395 biolink:NamedThing CACNA1H tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12731 biolink:NamedThing WAS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013267 biolink:NamedThing distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. tmpte7i6ely_mondo_relaxed.owl distal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome, type 220kb|distal 16p11.2 microdeletion syndrome|body Mass index quantitative trait locus 16|chromosome 16p11.2 deletion syndrome, 220-KB|obesity, susceptibility to|distal monosomy 16p11.2|chromosome 16p11.2 deletion syndrome, 220kb DOID:0060398|SCTID:733521003|UMLS:C4518824|Orphanet:261222|OMIM:613444|UMLS:C3150701|ICD10:Q93.5 owl:Class MONDO:0013200 biolink:NamedThing hypertrophic cardiomyopathy 15 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 15|cardiomyopathy, familial hypertrophic, type 15|hypertrophic cardiomyopathy caused by mutation in VCL|cardiomyopathy familial hypertrophic 15|hypertrophic cardiomyopathy type 15|VCL hypertrophic cardiomyopathy|CMH15 OMIM:613255|UMLS:C2750459|MESH:C567681|DOID:0110321 owl:Class MONDO:0014400 biolink:NamedThing retinitis pigmentosa 70 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 70|retinitis pigmentosa caused by mutation in PRPF4|PRPF4 retinitis pigmentosa|RP70|retinitis pigmentosa type 70 DOID:0110392|ICD10:H35.5|OMIM:615922|UMLS:C4014681 owl:Class HGNC:17349 biolink:NamedThing PRPF4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044149 biolink:NamedThing positive regulation of formation of structure involved in a symbiotic process Any process that activates or increases the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpte7i6ely_mondo_relaxed.owl positive regulation of development of symbiont during interaction with host|positive regulation of development of symbiont involved in interaction with host owl:Class GO:0044111 biolink:NamedThing formation of structure involved in a symbiotic process The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction. tmpte7i6ely_mondo_relaxed.owl development of symbiont involved in interaction with host|development of symbiont during interaction with host|development on or near surface of other organism during symbiotic interaction|development involved in symbiotic interaction|development during symbiotic interaction|development on or near surface of other organism involved in symbiotic interaction owl:Class MONDO:0021018 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3. tmpte7i6ely_mondo_relaxed.owl autosomal dominant limb-girdle muscular dystrophy type 1E|muscular dystrophy, limb-girdle, type 1D, formerly|muscular dystrophy limb-girdle type 1D|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|LGMD1D (DNAJB6)|muscular dystrophy limb-girdle type 1E|muscular dystrophy, limb-girdle, type 1D|limb-girdle muscular dystrophy type 1D|muscular dystrophy, limb-girdle, type 1E|autosomal dominant limb-girdle muscular dystrophy type 1D|LGMD1E|LGMD1E (Bushby and Beckmann, 2003)|LGMD1D|autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6 UMLS:C3148763|GARD:0012528|Orphanet:34516|UMLS:C3501858|OMIM:603511|ICD10:G71.0|DOID:0110305|MESH:C566370 Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 owl:Class HGNC:14888 biolink:NamedThing DNAJB6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013146 biolink:NamedThing Brugada syndrome 7 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene. tmpte7i6ely_mondo_relaxed.owl BRGDA7|SCN3B Brugada syndrome|Brugada syndrome type 7|Brugada syndrome 7|atrial fibrillation, familial, 16|Brugada syndrome caused by mutation in SCN3B UMLS:C2751088|MESH:C567734|DOID:0110224|OMIM:613120|Orphanet:334|ICD10:I49.8|Orphanet:130 owl:Class HGNC:24725 biolink:NamedThing FAM111A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004468 biolink:NamedThing set of muscles of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012555 biolink:NamedThing Cornelia de Lange syndrome 3 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. tmpte7i6ely_mondo_relaxed.owl Cornelia de Lange syndrome 3|Cornelia de Lange syndrome caused by mutation in SMC3|Smc3 Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3|CDLS3|SMC3 Cornelia de Lange syndrome|Cornelia De Lange syndrome type 3 UMLS:C1853099|OMIM:610759|DOID:0080507|Orphanet:199 owl:Class MONDO:0010986 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 9 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene. tmpte7i6ely_mondo_relaxed.owl NRSD9|deafness, autosomal recessive 9|DFNB9|autosomal recessive nonsyndromic deafness 9|deafness, autosomal recessive type 9|auditory neuropathy, nonsyndromic recessive|autosomal recessive deafness 9|autosomal recessive nonsyndromic deafness type 9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF|OTOF autosomal recessive nonsyndromic deafness|neurosensory nonsyndromic recessive deafness 9|auditory neuropathy, autosomal recessive, 1 OMIM:601071|ICD10:H90.3|DOID:0110535 owl:Class HGNC:8515 biolink:NamedThing OTOF tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003038 biolink:NamedThing thoracic spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000362 biolink:NamedThing epidermal cell An epithelial cell of the integument (the outer layer of an organism). tmpte7i6ely_mondo_relaxed.owl cell of epidermis|epithelial cell of skin FMA:62411|CALOHA:TS-0283|BTO:0001470 CL:1000396 cell owl:Class UBERON:0001172 biolink:NamedThing hepatic acinus tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11232 biolink:NamedThing Canine morbillivirus tmpte7i6ely_mondo_relaxed.owl Canine distemper virus|CDV|canine distemper virus CDV GC_ID:1 ncbi_taxonomy owl:Class GO:0052856 biolink:NamedThing NADHX epimerase activity Catalysis of the reaction: (R)-NADHX = (S)-NADHX. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013242 biolink:NamedThing maturity-onset diabetes of the young type 11 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene. tmpte7i6ely_mondo_relaxed.owl maturity-onset diabetes of the young, type 11|BLK maturity-onset diabetes of the young (disease)|MODY11|maturity-onset diabetes of the young (disease) caused by mutation in BLK SCTID:609578001|UMLS:C3150618|DOID:0111109|OMIM:613375|Orphanet:552 owl:Class HGNC:1057 biolink:NamedThing BLK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016835 biolink:NamedThing 14q11.2 microduplication syndrome 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. tmpte7i6ely_mondo_relaxed.owl dup(14)(q11.2)|trisomy 14q11.2 Orphanet:261229|UMLS:CN202171|ICD10:Q92.3 owl:Class OBO:CHR_9606-chr14q11.2 biolink:NamedThing 14q11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 24100000 18200000 hg38 owl:Class MONDO:0003300 biolink:NamedThing appendix leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl appendix leiomyoma|leiomyoma of the appendix|leiomyoma of appendix|leiomyoma of vermiform appendix|vermiform appendix leiomyoma|appendiceal leiomyoma UMLS:C1332327|DOID:5146|NCIT:C5514 owl:Class MONDO:0100456 biolink:NamedThing neonatal encephalopathy with non-epileptic myoclonus A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4059 owl:Class HGNC:15868 biolink:NamedThing ABHD12 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005518 biolink:NamedThing collagen binding Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007157 biolink:NamedThing arthrogryposis, distal, type 1A tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, type 1|arthrogryposis multiplex congenita|arthrogryposis, distal, type 1A|DA1A|AMC|arthrogryposis multiplex congenita, distal, type 1 SCTID:715314008|UMLS:C0220662|Orphanet:1146|DOID:0111597|OMIM:108120 owl:Class OBO:CHR_9606-chrXp11.23-p11.22 biolink:NamedThing Xp11.23-p11.22 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class GO:0098900 biolink:NamedThing regulation of action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007281 biolink:NamedThing presumptive midbrain hindbrain boundary tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003052 biolink:NamedThing midbrain-hindbrain boundary tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29077 biolink:NamedThing IFT140 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009482 biolink:NamedThing hypogonadotropic hypogonadism 3 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in PROKR2|hypogonadotropic hypogonadism 3 with or without anosmia|Kallmann syndrome 3|HH3|PROKR2 hypogonadotropic hypogonadism|KAL3 DOID:0090092|Orphanet:478|GARD:0003073|ICD10:E23.0|UMLS:C3550478|OMIM:244200 owl:Class MONDO:0014339 biolink:NamedThing autosomal recessive spinocerebellar ataxia 16 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia type 16|autosomal recessive spinocerebellar ataxia 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|spinocerebellar ataxia, autosomal recessive 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia autosomal recessive type 16|SCAR16|autosomal recessive cerebellar ataxia caused by mutation in STUB1|spinocerebellar ataxia, autosomal recessive type 16 ICD10:G11.1|OMIM:615768|DOID:0080029|Orphanet:412057|UMLS:C4014261 owl:Class HGNC:11427 biolink:NamedThing STUB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005769 biolink:NamedThing geniculate herpes zoster A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. tmpte7i6ely_mondo_relaxed.owl Herpes zoster auricularis|Ramsay Hunt syndrome type 2|herpetic geniculate ganglionitis|geniculate neuralgia|nervus intermedius neuralgia|Ramsey Hunt syndrome|Ramsay Hunt syndrome type II|Herpes Zoster Oticus UMLS:C0017409|UMLS:C0458220|ICD9:351.8|NCIT:C84763|EFO:0007281|DOID:9210|ICD10:B02.21|ICD9:053.11|SCTID:95670000 owl:Class MONDO:0042433 biolink:NamedThing mycotic endocarditis An endocarditis (disease) caused by infection with Fungi. tmpte7i6ely_mondo_relaxed.owl Fungi endocarditis (disease)|Fungi caused endocarditis (disease)|mycotic endocarditis|fungal endocarditis SCTID:86348002|UMLS:C0276648 owl:Class MONDO:0008842 biolink:NamedThing ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. tmpte7i6ely_mondo_relaxed.owl ataxia, adult-onset, with oculomotor apraxia|early-onset ataxia with oculomotor apraxia and hypoalbuminemia|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|AOA1|ataxia-telangiectasia-like syndrome|EAOH|APTX oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia 1|oculomotor apraxia or related oculomotor disease caused by mutation in APTX|ataxia with oculomotor apraxia type 1|ataxia-oculomotor apraxia syndrome|early-onset cerebellar ataxia with hypoalbuminemia|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-oculomotor apraxia type 1|EOCA-HA ICD10:G11.3|DOID:0050754|GARD:0009283|UMLS:C1859598|Orphanet:1168|MESH:C538013|OMIM:208920 Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, owl:Class HGNC:15984 biolink:NamedThing APTX tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001273 biolink:NamedThing liquid layer A layer which is primarily composed of some liquid material. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26790 biolink:NamedThing WDR72 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005753 biolink:NamedThing caudal part of nephrogenic cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004711 biolink:NamedThing jugular vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21307 biolink:NamedThing DSG4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030547 biolink:NamedThing signaling receptor inhibitor activity Binds to and modulates the activity of a signaling receptor. tmpte7i6ely_mondo_relaxed.owl receptor inhibitor activity owl:Class MONDO:0010973 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 5 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 5|autosomal dominant nonsyndromic deafness caused by mutation in GSDME|autosomal dominant nonsyndromic deafness type 5|GSDME autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 5|DFNA5|deafness, autosomal dominant 5|autosomal dominant nonsyndromic deafness 5 UMLS:C1832932|ICD10:H90.3|OMIM:600994|MESH:C563410|DOID:0110575 owl:Class HGNC:2810 biolink:NamedThing GSDME tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001881 biolink:NamedThing toxic shock syndrome A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. tmpte7i6ely_mondo_relaxed.owl TSS, toxic shock syndrome|toxic shock|syndrome (TSS), toxic shock|bacterial toxic-shock syndrome|toxic shock syndrome, (TSS)|toxic shock syndrome|shock syndrome (TSS), toxic|bacterial TSS|staphylococcal toxic shock syndrome|TSS UMLS:C0600327|DOID:14115|GARD:0009560|SCTID:18504008|UMLS:CN204669|ICD9:040.82|MESH:D012772|Orphanet:36234|NCIT:C35498|ICD10:A48.3 owl:Class HP:0002615 biolink:NamedThing Hypotension Low Blood Pressure, vascular hypotension. tmpte7i6ely_mondo_relaxed.owl Arterial hypotension|Low blood pressure SNOMEDCT_US:45007003|MSH:D007022|UMLS:C0020649 HP:0006701|HP:0005127 human_phenotype owl:Class MONDO:0020458 biolink:NamedThing hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. tmpte7i6ely_mondo_relaxed.owl adenosine deaminase, elevated, hemolytic anemia due to UMLS:CN207319|UMLS:C1863235|ICD10:D55.3|OMIM:102730|MESH:C566314|Orphanet:99138 owl:Class GO:0004000 biolink:NamedThing adenosine deaminase activity Catalysis of the reaction: adenosine + H2O = inosine + NH3. tmpte7i6ely_mondo_relaxed.owl adenosine aminohydrolase activity|adenosine deaminase reaction owl:Class UBERON:0005366 biolink:NamedThing olfactory lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012605 biolink:NamedThing isolated microphthalmia 5 Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia type 5|MCOP5|isolated microphthalmia 5|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|microphthalmia, isolated type 5|MFRP isolated microphthalmia|microphthalmia, isolated 5|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia caused by mutation in MFRP UMLS:C1970236|MESH:C567024|DOID:0060837|ICD10:Q15.8|Orphanet:251279|OMIM:611040 owl:Class CL:2000059 biolink:NamedThing prostate gland microvascular endothelial cell Any microvascular endothelial cell that is part of a prostate gland. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=4400 TermGenie 2014-10-07T17:46:27Z cell owl:Class UBERON:0003679 biolink:NamedThing mouth floor tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17296 biolink:NamedThing RRM2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014457 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 5 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene. tmpte7i6ely_mondo_relaxed.owl hyperphosphatasia with mental retardation syndrome 5|HPMRS5|hyperphosphatasia with intellectual disability syndrome 5|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|glycosylphosphatidylinositol biosynthesis defect 11|hyperphosphatasia with intellectual disability syndrome type 5|hyperphosphatasia with mental retardation syndrome type 5|GPIBD11|PIGW hyperphosphatasia-intellectual disability syndrome UMLS:C4014958|OMIM:616025|Orphanet:247262 owl:Class HGNC:18667 biolink:NamedThing PMPCA tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17p13 biolink:NamedThing 17p13 (Human) tmpte7i6ely_mondo_relaxed.owl 10800000 0 hg38 owl:Class MONDO:0024454 biolink:NamedThing sacral nerve plexus disorder A disease that involves the sacral nerve plexus. tmpte7i6ely_mondo_relaxed.owl sacral nerve plexus disease or disorder|disease or disorder of sacral nerve plexus|sacral plexopathy|sacral nerve plexus disorder|disease of sacral nerve plexus|disorder of sacral nerve plexus MESH:C537224|GARD:0007597|UMLS:C2931445 owl:Class UBERON:0034986 biolink:NamedThing sacral nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000743 biolink:NamedThing land consumption process A process in which natural ecosystems present over an expanse of land are removed and replaced with anthropogenic ecosystems. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003579 biolink:NamedThing shoulder connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003322 biolink:NamedThing mesenchyme of shoulder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008133 biolink:NamedThing optic atrophy 3 tmpte7i6ely_mondo_relaxed.owl optic atrophy, cataract, and neurologic disorder|optic atrophy 3 with cataract|optic atrophy 3|OPA3, autosomal dominant|autosomal dominant optic atrophy type 3|optic atrophy and cataract, autosomal dominant|optic atrophy 3, autosomal dominant|OPA3 OMIM:165300|GARD:0010203|MESH:C537128|DOID:0111433|UMLS:C1833809|Orphanet:67036|SCTID:719517009|ICD10:H47.2 https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract owl:Class ECTO:9002021 biolink:NamedThing exposure to astringent An exposure to astringent. tmpte7i6ely_mondo_relaxed.owl exposure to astringent owl:Class CHEBI:74783 biolink:NamedThing astringent A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions. tmpte7i6ely_mondo_relaxed.owl adstringent|adstringents|astringents owl:Class UBERON:0015477 biolink:NamedThing axillary fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001308 biolink:NamedThing hydroform A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019524 biolink:NamedThing infantile Bartter syndrome with sensorineural deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. tmpte7i6ely_mondo_relaxed.owl Bartter syndrome type 4|Bartter syndrome type IV|Bartter syndrome with sensorineural deafness SCTID:700112007|OMIM:602522|OMIM:613090|ICD10:E26.8|Orphanet:89938|UMLS:C3838860|GARD:0010508|UMLS:CN206343 owl:Class MONDO:0014694 biolink:NamedThing spondylocostal dysostosis 6, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2|spondylocostal dysostosis 6|RIPPLY2 autosomal recessive spondylocostal dysostosis|SCDO6|spondylocostal dysostosis 6, autosomal recessive Orphanet:2311|OMIM:616566|UMLS:C4225279|GARD:0012807 owl:Class HGNC:21390 biolink:NamedThing RIPPLY2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017199 biolink:NamedThing osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. tmpte7i6ely_mondo_relaxed.owl Heide syndrome Orphanet:2787|UMLS:CN202651|SCTID:716189005|UMLS:C4274786 owl:Class MONDO:0013971 biolink:NamedThing leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 12|leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|COXPD12|combined oxidative phosphorylation deficiency caused by mutation in EARS2|LTBL|combined oxidative phosphorylation deficiency 12|EARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation defect type 12|leukoencephalopathy with thalamus and brainstem involvement and high lactate SCTID:763366000|OMIM:614924|DOID:0111493|Orphanet:314051|GARD:0013381|UMLS:C3554079 owl:Class HGNC:29419 biolink:NamedThing EARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005296 biolink:NamedThing ovary sex cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010233 biolink:NamedThing stroma of thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005867 biolink:NamedThing mandibular prominence tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046545 biolink:NamedThing development of primary female sexual characteristics The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003522 biolink:NamedThing male orgasm disorder Persistent delay or absence in orgasm not accounted for by a medical reason. tmpte7i6ely_mondo_relaxed.owl male orgasmic disorder|inhibited male orgasm NCIT:C34959|ICD10:F52.32|SCTID:81903006|DOID:5576 owl:Class UBERON:0010982 biolink:NamedThing latissimus dorsi pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0019002 biolink:NamedThing tracheobronchial chondrocyte Any chondrocyte that is part of the tracheobronchial tree. tmpte7i6ely_mondo_relaxed.owl chondrocyte of tracheobronchial tree 2020-05-07 17:29:51+00:00 owl:Class UBERON:0034925 biolink:NamedThing anatomical collection tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9905 biolink:NamedThing RBM8A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018168 biolink:NamedThing primary non-essential cutis verticis gyrata tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.8|Orphanet:357225|UMLS:CN204616 owl:Class GO:0071738 biolink:NamedThing IgD immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005326 biolink:NamedThing mesonephric glomerulus vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000088 biolink:NamedThing Ammon's horn basket cell Any basket cell that is part of a Ammon's horn. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-24T00:37:30Z cell owl:Class UBERON:0006135 biolink:NamedThing myelinated nerve fiber tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005029 biolink:NamedThing mucosa of lacrimal canaliculus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905951 biolink:NamedThing mitochondrion DNA recombination Any DNA recombination that takes place in mitochondrion. tmpte7i6ely_mondo_relaxed.owl DNA recombination in mitochondria owl:Class MONDO:0002162 biolink:NamedThing fallopian tube adenosarcoma An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component. tmpte7i6ely_mondo_relaxed.owl fallopian tube Mullerian adenosarcoma|adenosarcoma of fallopian tube|fallopian tube adenosarcoma|fallopian tube Müllerian adenosarcoma|fallopian tube mullerian adenosarcoma NCIT:C40125|DOID:1973|UMLS:C1517121 owl:Class MONDO:0007696 biolink:NamedThing Emery-Nelson syndrome tmpte7i6ely_mondo_relaxed.owl hand and foot deformity - flat facies|hand and foot deformity with flat facies|hand and foot deformity-flat facies syndrome|familial syndrome of short stature, deformities of the hands and feet, and unusual facies UMLS:C1841693|ICD10:Q87.8|OMIM:139750|MESH:C535626|Orphanet:1927|GARD:0002593 owl:Class CL:0002004 biolink:NamedThing CD34-negative, GlyA-negative proerythroblast A proerythoblast that is CD34-negative and GlyA-negative. tmpte7i6ely_mondo_relaxed.owl Cell surface markers are associated with human cells. tmeehan 2010-04-26T10:31:50Z cell owl:Class CL:0002003 biolink:NamedThing CD34-positive, GlyA-negative erythroid progenitor cell An erythroid progenitor cell that is CD34-positive and is GlyA-negative. tmpte7i6ely_mondo_relaxed.owl FMA:83517 Cell markers associated with human cells. tmeehan 2010-04-26T10:14:30Z cell owl:Class MONDO:0024183 biolink:NamedThing wet beriberi tmpte7i6ely_mondo_relaxed.owl ICD10CM:E51.12|DOID:0070317 owl:Class MONDO:0011986 biolink:NamedThing tropical pancreatitis Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. tmpte7i6ely_mondo_relaxed.owl tropical calcific chronic pancreatitis|TCP|tropical calcific pancreatitis UMLS:C1842402|ICD10:K86.1|OMIM:608189|MESH:C564276|SCTID:724540009|UMLS:C4510860|Orphanet:103918 owl:Class HGNC:11244 biolink:NamedThing SPINK1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11772 biolink:NamedThing TGFBR1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:13719 biolink:NamedThing acetylsalicylate A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group. tmpte7i6ely_mondo_relaxed.owl 2-(acetyloxy)benzoate|acetylsalicylate owl:Class MONDO:0000397 biolink:NamedThing ataxic cerebral palsy A form of cerebral palsy caused by damage to cerebellar structures. tmpte7i6ely_mondo_relaxed.owl UMLS:C0394005|NCIT:C97168|ICD9:343.8|SCTID:278512001|DOID:0050670 owl:Class HGNC:26690 biolink:NamedThing CEP120 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9607 biolink:NamedThing PTHLH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002831 biolink:NamedThing regulation of response to biotic stimulus Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009082 biolink:NamedThing high myopia-sensorineural deafness syndrome High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. tmpte7i6ely_mondo_relaxed.owl deafness and myopia|high myopia-sensorineural deafness syndrome|DFNMYP|deafness and myopia syndrome Orphanet:363396|GARD:0012844|OMIM:221200|UMLS:CN204687|ICD10:H90.5|SCTID:720506002|DOID:0111628 owl:Class MONDO:0024638 biolink:NamedThing pancreatic gastrinoma A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption. tmpte7i6ely_mondo_relaxed.owl pancreatic gastrinoma NCIT:C95596|UMLS:C1368066 owl:Class GO:0048242 biolink:NamedThing epinephrine secretion The regulated release of epinephrine by a cell. Epinephrine is a catecholamine hormone secreted by the adrenal medulla and a neurotransmitter, released by certain neurons and active in the central nervous system. tmpte7i6ely_mondo_relaxed.owl adrenaline secretion owl:Class HGNC:11103 biolink:NamedThing SMARCB1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12266 biolink:NamedThing TREH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014875 biolink:NamedThing hyperaldosteronism, familial, type IV tmpte7i6ely_mondo_relaxed.owl aldosteronism, primary, and hypertension|FH 4|hyperaldosteronism, familial, type IV|HALD4|hyperaldosteronism, familial, type 4|hyperaldosteronism, familial, type IV; HALD4 UMLS:C4310756|OMIM:617027 owl:Class MONDO:0013674 biolink:NamedThing neurodegeneration with brain iron accumulation 4 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. tmpte7i6ely_mondo_relaxed.owl mitochondrial Protein-associated neurodegeneration|neurodegeneration with brain iron accumulation 4|NBIA4|NBIA due to C19orf12 mutation|neurodegeneration with brain iron accumulation due to C19orf12 mutation|C19orf12 neurodegeneration with brain iron accumulation|MPAN|neurodegeneration with brain iron accumulation caused by mutation in C19orf12|mitochondrial membrane protein-associated neurodegeneration|neurodegeneration with brain iron accumulation type 4 OMIM:614298|SCTID:709415008|ICD9:333.0|DOID:0110738|GARD:0012569|Orphanet:289560|UMLS:C3280371|ICD10:G23.0 owl:Class CL:2000073 biolink:NamedThing migratory cardiac neural crest cell Any migratory neural crest cell that is part of a cardiac neural crest. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-11-05T01:18:43Z cell owl:Class HGNC:1476 biolink:NamedThing CAPN1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24526 biolink:NamedThing ATL3 tmpte7i6ely_mondo_relaxed.owl owl:Class N4134bc5579954860ba17c711484ef5da biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007609 biolink:NamedThing fibromatosis, gingival, 1 Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. tmpte7i6ely_mondo_relaxed.owl hereditary gingival fibromatosis, 1|gingival fibromatosis, 1|GINGF|fibromatosis, gingival, hereditary|hereditary gingival fibromatosis caused by mutation in SOS1|gingival fibromatosis caused by mutation in SOS1|GINGF1|SOS1 gingival fibromatosis|fibromatosis, gingival, type 1|fibromatosis gingival, hereditary, 1|fibromatosis, gingival, 1|GGF1|SOS1 hereditary gingival fibromatosis|HGF1 Orphanet:2024|UMLS:C0399440|UMLS:CN030594|OMIM:135300|GARD:0006509 https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1 owl:Class MONDO:0012203 biolink:NamedThing familial hyperthyroidism due to mutations in TSH receptor Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. tmpte7i6ely_mondo_relaxed.owl hyperthyroidism, congenital Nonautoimmune|familial non-immune hyperthyroidism|hyperthyroidism, NONAUTOIMMUNE|Nonautoimmune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant|hyperthyroidism, Nonautoimmune, autosomal dominant|resistance to thyroid stimulating hormone Orphanet:424|MESH:C563786|ICD10:E05.8|GARD:0002858|OMIM:609152|UMLS:C1836706 owl:Class GO:1904255 biolink:NamedThing negative regulation of iron ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of an iron transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl down-regulation of iron channel activity|negative regulation of iron cation channel activity|inhibition of iron-specific channel activity|down regulation of iron-specific channel activity|down regulation of iron cation channel activity|down-regulation of iron cation channel activity|inhibition of iron cation channel activity|downregulation of iron-specific channel activity|negative regulation of iron-specific channel activity|down regulation of iron channel activity|downregulation of iron cation channel activity|negative regulation of iron channel activity|down-regulation of iron-specific channel activity|inhibition of iron channel activity|downregulation of iron channel activity owl:Class HGNC:9251 biolink:NamedThing CTSA tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012730 biolink:NamedThing Aglossia Absence of the tongue owing to a developmental abnormality. tmpte7i6ely_mondo_relaxed.owl Absence of tongue|Missing tongue|Failure of development of tongue SNOMEDCT_US:74788000|UMLS:C0158663 peter 2014-03-23T02:30:53Z human_phenotype owl:Class UBERON:0000121 biolink:NamedThing perineurium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005894 biolink:NamedThing paracoccidioidomycosis A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. tmpte7i6ely_mondo_relaxed.owl PCM|Paracoccidioidal granuloma|lobo disease|South American blastomycosis|mucocutaneous-lymphangitic paracoccidioidomycosis|Lutz-Splendore-Almeida disease|paracoccidioidal mycosis ICD10:B41.7|MedDRA:10061906|GARD:0007323|Orphanet:73260|UMLS:C0030409|ICD10:B41.0|ICD9:116.1|ICD10:B41.9|MESH:D010229|SCTID:36866003|EFO:0007417|ICD10:B41|DOID:12662|NCIT:C34891|ICD10:B41.8 https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis owl:Class NCBITaxon:121759 biolink:NamedThing Paracoccidioides brasiliensis tmpte7i6ely_mondo_relaxed.owl Loboa loboi GC_ID:1 NCBITaxon:71432|NCBITaxon:70254 ncbi_taxonomy owl:Class MONDO:0012132 biolink:NamedThing colorectal cancer, susceptibility to, 1 Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to colorectal cancer 1|colorectal cancer, susceptibility to, 1|colorectal cancer, susceptibility to, type 1|colorectal cancer, susceptibility to, on chromosome 9|CRCS1|colorectal adenoma and cancer, susceptibility to|colorectal cancer caused by mutation in GALNT12|GALNT12 colorectal cancer OMIM:608812 owl:Class HGNC:19877 biolink:NamedThing GALNT12 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002321 biolink:NamedThing Vertigo An abnormal sensation of spinning while the body is actually stationary. tmpte7i6ely_mondo_relaxed.owl Dizziness|Dizzy spell UMLS:C0012833|SNOMEDCT_US:404640003|SNOMEDCT_US:399090003|SNOMEDCT_US:399153001|MSH:D004244|UMLS:C0042571|MSH:D014717|SNOMEDCT_US:271789005 human_phenotype owl:Class MONDO:0014443 biolink:NamedThing Bardet-Biedl syndrome 15 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in WDPCP|BBS15|Bardet-Biedl syndrome type 15|WDPCP Bardet-Biedl syndrome|Bardet-Biedl syndrome 15 UMLS:C3150127|DOID:0110137|ICD10:Q87.89|Orphanet:110|OMIM:615992 owl:Class HGNC:28027 biolink:NamedThing WDPCP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012313 biolink:NamedThing 1st arch maxillary ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003521 biolink:NamedThing Disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. tmpte7i6ely_mondo_relaxed.owl Disproportionate short-trunked short stature|Disproportionate short-trunked dwarfism|Short-trunked dwarfism UMLS:C1846435 HP:0001524|HP:0003500|HP:0008923 human_phenotype owl:Class MONDO:0013373 biolink:NamedThing dilated cardiomyopathy 1V Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1V|PSEN2 familial isolated dilated cardiomyopathy|CMD1V|cardiomyopathy, dilated, type 1V|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|dilated cardiomyopathy type 1V OMIM:613697|UMLS:C3150958|ICD10:I42.0|DOID:0110427|MESH:C566856 owl:Class HP:0000975 biolink:NamedThing Hyperhidrosis Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. tmpte7i6ely_mondo_relaxed.owl Diaphoresis|Excessive sweating|Profuse sweating|Sweating|Increased sweating|Sweating, increased|Sweating profusely SNOMEDCT_US:161857006|SNOMEDCT_US:415691001|UMLS:C0038990|SNOMEDCT_US:364538006|MSH:D013546|SNOMEDCT_US:312230002|UMLS:C0020458|SNOMEDCT_US:52613005|MEDDRA:10020642|UMLS:C0700590|MSH:D006945|SNOMEDCT_US:415690000 The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. HP:0007424|HP:0001064|HP:0001011 human_phenotype owl:Class ENVO:01000845 biolink:NamedThing crystal A solid material whose constituents, such as atoms, molecules or ions, are arranged in a highly ordered microscopic structure, forming a crystal lattice that extends in all directions. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002569 biolink:NamedThing mesenchymal stem cell of umbilical cord A mesenchymal stem cell of the umbilical cord. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-01T09:55:12Z cell owl:Class MONDO:0002282 biolink:NamedThing West Nile fever A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) tmpte7i6ely_mondo_relaxed.owl West Nile virus disease or disorder|West Nile virus caused disease or disorder|West Nile virus infectious disease ICD9:066.40|ICD9:066.4|DOID:2366|SCTID:417093003|MESH:D014901|ICD10:A92.30|ICD10:A92.3 owl:Class MONDO:0014260 biolink:NamedThing immunodeficiency, common variable, 10 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. tmpte7i6ely_mondo_relaxed.owl CVID10|immunodeficiency, common variable, 10|NFKB2 common variable immunodeficiency|Deficit in anterior pituitary function and variable immunodeficiency|common variable immunodeficiency caused by mutation in NFKB2|immunodeficiency, common variable, with central adrenal insufficiency|immunodeficiency, common variable, type 10 Orphanet:1572|OMIM:615577|Orphanet:293978|UMLS:C3809991 owl:Class HGNC:7795 biolink:NamedThing NFKB2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq2 biolink:NamedThing Xq2 (Human) tmpte7i6ely_mondo_relaxed.owl 156040895 76800000 hg38 owl:Class UBERON:0007195 biolink:NamedThing stroma of bone marrow tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000332 biolink:NamedThing yellow bone marrow tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001484 biolink:NamedThing articular capsule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005648 biolink:NamedThing aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure. tmpte7i6ely_mondo_relaxed.owl Corrigan's disease|aortic regurgitation|rheumatic aortic regurgitation|aortic insufficiency|rheumatic aortic valve insufficiency|rheumatic aortic valve regurgitation|aortic incompetence|rheumatic aortic insufficiency SCTID:78031003|MESH:D001022|NCIT:C51223|UMLS:C0003504|ICD9:395.1|DOID:57|UMLS:C0155568|ICD9:396.3|EFO:0007148|ICD10:I06.1 owl:Class MONDO:0005200 biolink:NamedThing viral dilated cardiomyopathy An dilated cardiomyopathy caused by infection with Viruses. tmpte7i6ely_mondo_relaxed.owl Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy Wikipedia:Viral_cardiomyopathy|UMLS:C0264797|EFO:0002629|SCTID:30496006 owl:Class MONDO:0014580 biolink:NamedThing intellectual disability, autosomal dominant 33 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene. tmpte7i6ely_mondo_relaxed.owl DPP6 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 33|MRD33|mental retardation, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability 33|intellectual disability, autosomal dominant 33|autosomal dominant intellectual disability 33|autosomal dominant mental retardation 33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|mental retardation, autosomal dominant 33 OMIM:616311|Orphanet:2514|DOID:0070063 owl:Class HGNC:3010 biolink:NamedThing DPP6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013544 biolink:NamedThing atrial fibrillation, familial, 11 Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, type 11|familial atrial fibrillation caused by mutation in GJA5|ATFB11|atrial fibrillation, familial, 11|GJA5 familial atrial fibrillation UMLS:C3279693|OMIM:614049|Orphanet:334 owl:Class HGNC:4279 biolink:NamedThing GJA5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008344 biolink:NamedThing intestinal villus of ileum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006338 biolink:NamedThing lateral ventricle choroid plexus stroma tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001173 biolink:NamedThing plant seed food product tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006868 biolink:NamedThing seminal fluid secreting gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007223 biolink:NamedThing osseus cochlea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004697 biolink:NamedThing esophageal leukoplakia A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma. tmpte7i6ely_mondo_relaxed.owl leukoplakia of esophagus|esophageal epidermoid metaplasia|esophageal leukoplakia|esophageal leukoplakia (disease)|leukoplakia of the esophagus|esophagus leukoplakia esophageal leukoplakia (disease) HP:0012859|DOID:9021|SCTID:89057003|UMLS:C0267095|ICD9:530.83|NCIT:C3953 owl:Class UBERON:0006256 biolink:NamedThing knee joint primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011159 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 13 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 13|autosomal dominant deafness 13|DFNA13|COL11A2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 13|autosomal dominant nonsyndromic deafness caused by mutation in COL11A2|deafness, autosomal dominant type 13|autosomal dominant nonsyndromic deafness type 13 DOID:0110545|ICD10:H90.3|OMIM:601868|UMLS:C1866095|MESH:C566612 owl:Class GO:0042476 biolink:NamedThing odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpte7i6ely_mondo_relaxed.owl tooth development|tooth morphogenesis|odontogenesis of calcareous or chitinous tooth|odontosis|odontogeny owl:Class UBERON:0004015 biolink:NamedThing embryonic-extraembryonic boundary tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008544 biolink:NamedThing epidermis development The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. tmpte7i6ely_mondo_relaxed.owl hypodermis development owl:Class HGNC:11122 biolink:NamedThing SMPX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012584 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 9 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene. tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, type 9|CR2 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 9|systemic lupus erythematosus, susceptibility to, 9|SLEB9|systemic lupus erythematosus (disease) caused by mutation in CR2 OMIM:610927 owl:Class MONDO:0011718 biolink:NamedThing primary ciliary dyskinesia 2 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, type 2|primary ciliary dyskinesia caused by mutation in DNAAF3|primary ciliary dyskinesia type 2|DNAAF3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 2|CILD2|ciliary dyskinesia, primary, 2, with or without situs inversus|primary ciliary dyskinesia 2 with or without situs inversus Orphanet:244|DOID:0110626|UMLS:C1847554|MESH:C535277|OMIM:606763|ICD10:Q34.8 owl:Class HGNC:30492 biolink:NamedThing DNAAF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014654 biolink:NamedThing Ullrich congenital muscular dystrophy 2 Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene. tmpte7i6ely_mondo_relaxed.owl UCMD2|Ullrich congenital muscular dystrophy caused by mutation in COL12A1|Ullrich congenital muscular dystrophy 2|Ullrich congenital muscular dystrophy type 2|COL12A1 Ullrich congenital muscular dystrophy UMLS:C4225314|OMIM:616470 owl:Class MONDO:0022607 biolink:NamedThing extraovarian Brenner tumor of the vagina A Brenner tumor that involves the vagina. tmpte7i6ely_mondo_relaxed.owl Brenner tumor of the vagina|extraovarian Brenner tumor of the vagina|vagina Brenner tumor GARD:0010006 https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina owl:Class UBERON:0003821 biolink:NamedThing metapodium bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005719 biolink:NamedThing Coronavinae infectious disease Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). tmpte7i6ely_mondo_relaxed.owl EFO:0007224|MESH:D018352 owl:Class NCBITaxon:693995 biolink:NamedThing Coronavirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014930 biolink:NamedThing perivascular space tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020733 biolink:NamedThing proximal symphalangism 1A tmpte7i6ely_mondo_relaxed.owl SYM1A|Sym1|symphalangism, proximal, type 1A|Cushing symphalangism|symphalangism, proximal, 1A|hereditary absence of the proximal interphalangeal joints UMLS:C3714899|OMIM:185800|Orphanet:3250 owl:Class UBERON:0007647 biolink:NamedThing ectomeninx tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004134 biolink:NamedThing proximal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24539 biolink:NamedThing NECAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700000 biolink:NamedThing ALG9-associated autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene. tmpte7i6ely_mondo_relaxed.owl ALG9-associated autosomal dominant polycystic kidney disease|ALG9-associated ADPKD|autosomal dominant polycystic kidney disease caused by mutation in ALG9|ALG9 autosomal dominant polycystic kidney disease|ALG9 related autosomal dominant polycystic kidney disease http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:15672 biolink:NamedThing ALG9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009014 biolink:NamedThing cornea plana 2 Any cornea plana in which the cause of the disease is a mutation in the KERA gene. tmpte7i6ely_mondo_relaxed.owl CNA2|cornea plana 2, autosomal recessive|cornea plana type 2|cornea plana caused by mutation in KERA|KERA cornea plana|cornea plana 2 OMIM:217300|MESH:C565677|UMLS:C1857574|Orphanet:53691 owl:Class HGNC:6309 biolink:NamedThing KERA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012084 biolink:NamedThing aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction. tmpte7i6ely_mondo_relaxed.owl aromatic amino acid decarboxylase deficiency|Aadc deficiency|DDC deficiency|Dopa decarboxylase deficiency|AADC deficiency|aromatic L-amino acid decarboxylase deficiency|aromatic L-amino-acid decarboxylase deficiency ICD9:270.8|MESH:C537437|ICD10:G24.8|DOID:0090123|SCTID:237922009|OMIM:608643|Orphanet:35708|GARD:0000770|NCIT:C142085|GARD:770 https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency owl:Class HGNC:2719 biolink:NamedThing DDC tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012476 biolink:NamedThing skeleton of pelvic complex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10942 biolink:NamedThing SLC1A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005318 biolink:NamedThing canker sore A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology. tmpte7i6ely_mondo_relaxed.owl aphthous stomatitis|canker sore|aphthous ulcer DOID:9663|EFO:0003938|HP:0032154|MESH:D013281|NCIT:C62546|SCTID:427617000 owl:Class UBERON:0003343 biolink:NamedThing mucosa of oral region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018170 biolink:NamedThing idiopathic nephrotic syndrome Nephrotic syndrome for which no cause has been identified. tmpte7i6ely_mondo_relaxed.owl UMLS:C3496337|NCIT:C122796|Orphanet:357502 owl:Class UBERON:0004089 biolink:NamedThing midface tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001252 biolink:NamedThing Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. tmpte7i6ely_mondo_relaxed.owl Muscular hypotonia|Low or weak muscle tone|Low muscle tone|Peripheral hypotonia|Muscle hypotonia|Central hypotonia UMLS:C0026827|SNOMEDCT_US:398151007|SNOMEDCT_US:398152000|MSH:D009123 Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. HP:0011398 human_phenotype owl:Class MONDO:0045058 biolink:NamedThing ACTH-producing pituitary gland neoplasm An adenoma or carcinoma of the pituitary gland that produces corticotropin. tmpte7i6ely_mondo_relaxed.owl corticotropin secreting pituitary gland neoplasm|ACTH-producing pituitary neoplasm|adrenocorticotropin secreting tumor of the pituitary|adrenocorticotropin secreting neoplasm of the pituitary|ACTH-producing pituitary gland neoplasm|ACTH-secreting tumor of the pituitary|adrenocorticotropin producing pituitary gland tumor|ACTH producing pituitary gland neoplasm|adrenocorticotropin secreting neoplasm of pituitary|pituitary corticotropin secreting tumor|pituitary corticotropin secreting neoplasm|adrenocorticotropin secreting pituitary gland tumor|ACTH-secreting tumor of pituitary|adrenocorticotropin secreting tumor of pituitary|ACTH-producing pituitary tumor NCIT:C7909|UMLS:C0278862 owl:Class UBERON:0013772 biolink:NamedThing left nipple tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013702 biolink:NamedThing body proper tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007623 biolink:NamedThing circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours. tmpte7i6ely_mondo_relaxed.owl circadian process|response to circadian rhythm|circadian response owl:Class MONDO:0014847 biolink:NamedThing spermatogenic failure 15 Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 15; SPGF15|azoospermia caused by mutation in SYCE1|SPGF15|spermatogenic failure 15|SYCE1 azoospermia|spermatogenic failure type 15 DOID:0070172|UMLS:C4310779|OMIM:616950 owl:Class MONDO:0012338 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl EIG4|epilepsy, idiopathic generalized, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 DOID:0111319|OMIM:609750 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0016656 biolink:NamedThing 7q31 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl monosomy 7q31|Del(7)(q31) Orphanet:251061|ICD10:Q93.5|UMLS:CN201886 owl:Class OBO:CHR_9606-chr7q31 biolink:NamedThing 7q31 (Human) tmpte7i6ely_mondo_relaxed.owl 127500000 107800000 hg38 owl:Class MONDO:0014937 biolink:NamedThing aniridia 2 tmpte7i6ely_mondo_relaxed.owl AN2|aniridia type 2|aniridia 2|aniridia 2; AN2 SCTID:253232000|MESH:C536372|OMIM:617141 owl:Class HGNC:1171 biolink:NamedThing ELP4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004176 biolink:NamedThing external genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003574 biolink:NamedThing elbow connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018254 biolink:NamedThing skeletal musculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011133 biolink:NamedThing intermetatarsal joint tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5248 biolink:NamedThing HSPB3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002546 biolink:NamedThing embryonic blood vessel endothelial progenitor cell An endothelial progenitor cell that participates in angiogenesis during development. tmpte7i6ely_mondo_relaxed.owl See CL:0002619. tmeehan 2011-02-28T04:20:39Z cell owl:Class HGNC:11285 biolink:NamedThing SRD5A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012639 biolink:NamedThing hereditary spastic paraplegia 18 A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia type 18|autosomal recessive spastic paraplegia 18|spastic paraplegia 18|intellectual disability, motor dysfunction and joint contractures|ERLIN2 autosomal recessive complex spastic paraplegia|spastic paraplegia 18, autosomal recessive|SPG18|intellectual disability, motor dysfunction, and Joint contractures|autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|hereditary spastic paraplegia type 18 OMIM:611225|MESH:C567628|DOID:0110771|ICD10:G11.4|SCTID:732932004|GARD:0004922|Orphanet:209951 owl:Class HGNC:1356 biolink:NamedThing ERLIN2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005062 biolink:NamedThing neural fold tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005061 biolink:NamedThing neural groove tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:813 biolink:NamedThing Chlamydia trachomatis tmpte7i6ely_mondo_relaxed.owl Rickettsia trachomatis|Rickettsia trachomae|Chlamydozoon trachomatis GC_ID:11|PMID:10192388|PMID:8347519|PMID:10319462|PMID:8102247 ncbi_taxonomy owl:Class UBERON:0010038 biolink:NamedThing fundic gastric gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001160 biolink:NamedThing fundus of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002850 biolink:NamedThing central nervous system rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system rhabdomyosarcoma (disease)|central nervous system rhabdomyosarcoma|CNS rhabdomyosarcoma|rhabdomyosarcoma of the central nervous system|rhabdomyosarcoma (disease) of central nervous system|rhabdomyosarcoma of central nervous system|rhabdomyosarcoma of the CNS|rhabdomyosarcoma of CNS NCIT:C5464|UMLS:C1332891|DOID:4048 owl:Class MONDO:0043555 biolink:NamedThing infantile diarrhea Diarrhea occurring in infants from newborn to 24-months old. tmpte7i6ely_mondo_relaxed.owl infantile Diarrheas|Diarrheas, infantile|infantile diarrheal disease|toddler diarrhea|diarrheal disease of infancy|infantile onset diarrheal disease|infantile diarrhea SCTID:39963006|MESH:D003968|UMLS:C0473132 owl:Class MONDO:0014469 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 103 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene. tmpte7i6ely_mondo_relaxed.owl DFNB103|autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive deafness 103|autosomal recessive nonsyndromic deafness type 103|CLIC5 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 103|deafness, autosomal recessive 103|deafness, autosomal recessive type 103 UMLS:C4015050|OMIM:616042|ICD10:H90.3|DOID:0110464 owl:Class MONDO:0021546 biolink:NamedThing ependymal tumor of spinal cord An ependymal tumor that arises from the spinal cord. tmpte7i6ely_mondo_relaxed.owl spinal cord ependymal tumor|ependymal tumor of spinal cord UMLS:C4318747|NCIT:C131526 owl:Class UBERON:0005333 biolink:NamedThing mammary bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0040699 biolink:NamedThing necrotizing scleritis A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern. tmpte7i6ely_mondo_relaxed.owl SCTID:95797003|ICD9:379.09 owl:Class PATO:0000647 biolink:NamedThing necrotic A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003878 biolink:NamedThing malignant choroid melanoma A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of choroid|melanoma of choroid|choroid melanoma|choroidal melanoma|optic choroid melanoma|optic choroid melanoma (disease)|melanoma of the choroid|choroid malignant melanoma|melanoma (disease) of optic choroid|malignant melanoma of the choroid DOID:6438|UMLS:C0346388|NCIT:C4561|SCTID:255021005 MONDO:0021436 owl:Class MONDO:0003908 biolink:NamedThing clivus meningioma A meningioma that affects the clivus. tmpte7i6ely_mondo_relaxed.owl meningioma of the clivus|meningioma of clivus|meningioma (disease) of clivus of occipital bone|clivus of occipital bone meningioma (disease) DOID:6517|NCIT:C5289|UMLS:C1333073 owl:Class UBERON:0003353 biolink:NamedThing epithelium of hindgut tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009530 biolink:NamedThing lipoid proteinosis Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. tmpte7i6ely_mondo_relaxed.owl lipid proteinosis|lipoproteinosis|hyalinosis cutis et mucosae|Urbach Wiethe disease|lipoid proteinosis|hyalinosis cutis Et mucosae|lipoid proteinosis of Urbach and Wiethe|Urbach-Wiethe disease ICD10:E78.8|Orphanet:530|OMIM:247100|DOID:14498|UMLS:C0023795|ICD9:272.8|GARD:0003268|SCTID:38692000|MESH:D008065|NCIT:C84829 owl:Class HGNC:3153 biolink:NamedThing ECM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011725 biolink:NamedThing Crigler-Najjar syndrome type 2 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1. tmpte7i6ely_mondo_relaxed.owl bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|Crigler-Najjar syndrome, type 2|Crigler Najjar syndrome, type 2|UGT deficiency type 2|bilirubin-UGT deficiency type 2|Crigler-Najjar syndrome, type II|hereditary unconjugated hyperbilirubinemia type 2|hyperbilirubinemia, Crigler-Najjar type 2|Arias syndrome OMIM:606785|MESH:C536213|MedDRA:10011387|SCTID:68067009|Orphanet:79235|ICD10:E80.5|Orphanet:205|GARD:0008683|UMLS:C2931132 https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2 owl:Class MONDO:0007850 biolink:NamedThing autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal dominant form of KID syndrome. tmpte7i6ely_mondo_relaxed.owl keratitis-ichthyosis-deafness syndrome, autosomal dominant|autosomal dominant KID syndrome|KID syndrome, autosomal dominant|autosomal dominant keratitis-ichthyosis-deafness syndrome UMLS:C0265336|ICD10:Q80.8|DOID:0060871|OMIM:148210|Orphanet:477 https://github.com/monarch-initiative/mondo/issues/551 owl:Class GO:0002520 biolink:NamedThing immune system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010817 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 2A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 2A|autosomal dominant nonsyndromic deafness 2A|autosomal dominant nonsyndromic deafness type 2A|deafness, autosomal dominant type 2A|autosomal dominant deafness 2A|DFNA2A|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4|KCNQ4 autosomal dominant nonsyndromic deafness DOID:0110558|UMLS:C2677637|ICD10:H90.3|OMIM:600101|MESH:C567441 owl:Class GO:0033005 biolink:NamedThing positive regulation of mast cell activation Any process that activates or increases the frequency, rate, or extent of mast cell activation. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046579 biolink:NamedThing positive regulation of Ras protein signal transduction Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. tmpte7i6ely_mondo_relaxed.owl activation of Ras protein signal transduction|stimulation of Ras protein signal transduction|up-regulation of Ras protein signal transduction|upregulation of Ras protein signal transduction|up regulation of Ras protein signal transduction owl:Class UBERON:0009624 biolink:NamedThing lumbar nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002792 biolink:NamedThing lumbar spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011275 biolink:NamedThing acromesomelic dysplasia 1, Maroteaux type A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. tmpte7i6ely_mondo_relaxed.owl acromesomelic dysplasia, Maroteaux type|acromesomelic dwarfism Maroteux type|acromesomelic dysplasia Maroteaux type|AMDM|St. Helena dysplasia DOID:0080050|SCTID:718559000|OMIM:602875|MESH:C535661|Orphanet:40|GARD:0000507|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type owl:Class HGNC:7944 biolink:NamedThing NPR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013916 biolink:NamedThing nephronophthisis 14 Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 19|nephronophthisis type 14|ZNF423 nephronophthisis (disease)|nephronophthisis 14|nephronophthisis (disease) caused by mutation in ZNF423|NPHP14 Orphanet:2318|UMLS:C3539071|OMIM:614844|DOID:0111122 owl:Class MONDO:0010140 biolink:NamedThing isolated thyrotropin-releasing hormone deficiency Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. tmpte7i6ely_mondo_relaxed.owl isolated thyroliberin deficiency|hypothalamic hypothyroidism|isolated TSH-releasing factor deficiency|isolated TRF deficiency|thyrotropin-releasing hormone deficiency|TRH deficiency|isolated prothyroliberin deficiency|isolated thyrotropin-releasing factor deficiency|isolated TRH deficiency|tertiary hypothyroidism|isolated protirelin deficiency NCIT:C121741|SCTID:10736002|ICD10:E03.1|OMIM:275120|ICD9:253.4|Orphanet:238670 owl:Class HGNC:12298 biolink:NamedThing TRH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003475 biolink:NamedThing ureteric vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012437 biolink:NamedThing epithelial-mesenchymal boundary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011351 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 21 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. tmpte7i6ely_mondo_relaxed.owl tecta autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|autosomal recessive nonsyndromic deafness 21|autosomal recessive nonsyndromic deafness caused by mutation in tecta|autosomal recessive deafness 21|autosomal recessive nonsyndromic deafness type 21|deafness, autosomal recessive type 21|deafness, autosomal recessive 21|TECTA autosomal recessive nonsyndromic deafness|DFNB21 ICD10:H90.3|MESH:C566353|OMIM:603629|DOID:0110479|Orphanet:90636|UMLS:C1863655 owl:Class HGNC:11720 biolink:NamedThing TECTA tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000555 biolink:NamedThing neuronal brush cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0014787 biolink:NamedThing severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome tmpte7i6ely_mondo_relaxed.owl corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia|CCAFCA|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia|Birk-Flusser syndrome UMLS:C4225193|OMIM:616819|Orphanet:466688 owl:Class HGNC:25491 biolink:NamedThing FRMD4A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6769 biolink:NamedThing SMAD3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014060 biolink:NamedThing regulation of epinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of epinephrine. tmpte7i6ely_mondo_relaxed.owl regulation of adrenaline secretion owl:Class CL:0000954 biolink:NamedThing small pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. tmpte7i6ely_mondo_relaxed.owl small pre-BII cell Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. cell owl:Class UBERON:0001665 biolink:NamedThing triceps surae tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904746 biolink:NamedThing negative regulation of apoptotic process involved in development Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. tmpte7i6ely_mondo_relaxed.owl down-regulation of type I programmed cell death involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptosis signaling involved in anatomical structure development|down regulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic cell death involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of apoptosis involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|down regulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic program involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of activation of apoptosis involved in development of an anatomical structure|down regulation of activation of apoptosis involved in anatomical structure development|negative regulation of apoptotic program involved in anatomical structure development|down regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|downregulation of apoptotic cell death involved in development of an anatomical structure|down regulation of apoptosis involved in development of an anatomical structure|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of commitment to apoptosis involved in anatomical structure development|inhibition of activation of apoptosis involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|negative regulation of type I programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptosis involved in anatomical structure development|negative regulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic process involved in anatomical structure development|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of type I programmed cell death involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|downregulation of type I programmed cell death involved in development of an anatomical structure|down regulation of apoptotic program involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic process involved in anatomical structure development|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptosis activator activity involved in anatomical structure development|inhibition of apoptotic process involved in development|downregulation of apoptosis signaling involved in anatomical structure development|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of induction of apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptotic program involved in anatomical structure development|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|inhibition of apoptotic cell death involved in development of an anatomical structure|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|inhibition of apoptotic cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in anatomical structure development|negative regulation of commitment to apoptosis involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down regulation of apoptotic process involved in development|down-regulation of type I programmed cell death involved in anatomical structure development|down-regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptosis signaling involved in development of an anatomical structure|down regulation of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|negative regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|down-regulation of activation of apoptosis involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|downregulation of induction of apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptosis activator activity involved in development of an anatomical structure|downregulation of apoptotic cell death involved in anatomical structure development|negative regulation of apoptosis signaling involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of type I programmed cell death involved in anatomical structure development|inhibition of apoptosis signaling involved in anatomical structure development|negative regulation of apoptotic cell death involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptosis involved in anatomical structure development|inhibition of apoptosis involved in development of an anatomical structure|down-regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in development of an anatomical structure|down-regulation of apoptotic cell death involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of induction of apoptosis involved in anatomical structure development|down regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis signaling involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|inhibition of activation of apoptosis involved in development of an anatomical structure|inhibition of apoptotic process involved in anatomical structure development|down regulation of type I programmed cell death involved in anatomical structure development|downregulation of apoptotic process involved in development|down regulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of apoptotic process involved in development of an anatomical structure|down regulation of commitment to apoptosis involved in anatomical structure development|down regulation of induction of apoptosis by p53 involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|downregulation of apoptosis activator activity involved in anatomical structure development|inhibition of apoptotic process involved in development of an anatomical structure|downregulation of activation of apoptosis involved in anatomical structure development|downregulation of commitment to apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|downregulation of apoptotic process involved in anatomical structure development|downregulation of type I programmed cell death involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|inhibition of type I programmed cell death involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptosis activator activity involved in anatomical structure development owl:Class HsapDv:0000115 biolink:NamedThing 21-year-old human stage Young adult stage that refers to an adult who is over 21 and under 22. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:162997 biolink:NamedThing Culex annulirostris tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0006858 biolink:NamedThing extracellular transport The transport of substances that occurs outside cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012369 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl SLEB6|systemic lupus erythematosus, susceptibility to, 6 OMIM:609939 owl:Class MONDO:0021443 biolink:NamedThing benign neoplasm of lymph node A benign neoplasm that involves the lymph node. tmpte7i6ely_mondo_relaxed.owl benign lymph node tumor|benign neoplasm of the lymph node|lymph node benign neoplasm|benign tumor of lymph node|benign lymph node neoplasm|benign tumor of the lymph node UMLS:C0154054|NCIT:C3636|DOID:0080617|SCTID:92197001|ICD9:229.0 owl:Class MONDO:0012890 biolink:NamedThing pontocerebellar hypoplasia type 2B Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene. tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia, type 2B|TSEN2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2|PCH2B|pontocerebellar hypoplasia type 2B OMIM:612389|DOID:0060268|UMLS:C2676466|Orphanet:2524|MESH:C567325 owl:Class HGNC:28422 biolink:NamedThing TSEN2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009895 biolink:NamedThing negative regulation of catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpte7i6ely_mondo_relaxed.owl negative regulation of catabolism|inhibition of catabolic process|negative regulation of breakdown|down-regulation of catabolic process|downregulation of catabolic process|down regulation of catabolic process|negative regulation of degradation owl:Class MONDO:0010438 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 1 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. tmpte7i6ely_mondo_relaxed.owl paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|PNH1|paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|PIGA paroxysmal nocturnal hemoglobinuria|pIgA paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria 1|paroxysmal nocturnal hemoglobinuria type 1 Orphanet:447|OMIM:300818|UMLS:C3806670 owl:Class HGNC:8957 biolink:NamedThing PIGA tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:186540 biolink:NamedThing Sudan ebolavirus tmpte7i6ely_mondo_relaxed.owl Sudan Ebola virus|Ebolavirus Sudan|SUDV|SEBOV GC_ID:1 ncbi_taxonomy owl:Class CL:1000284 biolink:NamedThing smooth muscle fiber of descending colon A smooth muscle cell that is part of the descending colon. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of descending colon FMA:17520 cell owl:Class MONDO:0003030 biolink:NamedThing endometrioid stromal sarcoma of the cervix A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. tmpte7i6ely_mondo_relaxed.owl endometrioid stromal sarcoma of uterine cervix|endometrioid stromal sarcoma of the cervix|cervical endometrial stromal sarcoma|uterine cervix endometrioid stromal sarcoma|endometrial stromal sarcoma of the cervix NCIT:C40220|DOID:4520|UMLS:C3642326 owl:Class MONDO:0007478 biolink:NamedThing autosomal dominant Kenny-Caffey syndrome An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. tmpte7i6ely_mondo_relaxed.owl Kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia|Kenny-Caffey syndrome type 2|Kenny-Caffey syndrome, autosomal dominant|KCS2|Kenny-Caffey syndrome, type 2|dwarfism, cortical thickening of tubular bones and transient hypocalcemia OMIM:127000|Orphanet:93325|GARD:0000083|Orphanet:2333|UMLS:CN031291|NCIT:C130993|UMLS:C0265291|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 owl:Class UBERON:0015716 biolink:NamedThing anal canal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28510 biolink:NamedThing GLIS3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0014032 biolink:NamedThing neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0056798 biolink:NamedThing disorder of appendix A disease or disorder that involves the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl vermiform appendix disease or disorder|disease of vermiform appendix|disorder of vermiform appendix|vermiform appendix disease|appendix disease|disorder of appendix|disease or disorder of vermiform appendix|appendiceal disease|disease of appendix DOID:60000|ICD9:543.9|SCTID:18526009|UMLS:C0267613 owl:Class UBERON:0004128 biolink:NamedThing optic vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004359 biolink:NamedThing delusional disorder A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s). tmpte7i6ely_mondo_relaxed.owl ICD9:297.1|NCIT:C94379|ICD10:F22|DOID:778|ICD10:F22.0|SCTID:48500005 owl:Class OBO:MFOMD_0000101 biolink:NamedThing delusion Erroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose). DSM-IV-TR (american Psychiatric Association) tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035416 biolink:NamedThing diaphragma sellae tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005834 biolink:NamedThing lymphogranuloma venereum Infection with the organism Mycobacterium. tmpte7i6ely_mondo_relaxed.owl lymph granuloma inguinale|strumous bubo|climatic or tropical bubo|lymphogranuloma inguinale|Poradenitis inguinale|Durand-Nicolas-Favre disease|LGV UMLS:C0024286|ICD9:099.1|EFO:0007353|NCIT:C26822|DOID:13819|MESH:D008219|GARD:0009545|SCTID:186946009|ICD10:A55 https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum owl:Class UBERON:0002391 biolink:NamedThing lymph tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005868 biolink:NamedThing maxillary prominence tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009844 biolink:NamedThing urogenital sinus lumen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013773 biolink:NamedThing right nipple tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12565 biolink:NamedThing UNC119 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018851 biolink:NamedThing familial keratoacanthoma Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl multiple keratoacanthoma|hereditary keratoacanthoma UMLS:CN227546|SCTID:716774008|Orphanet:493|ICD10:L85.8 Editor note: consider adding subtypes owl:Class MONDO:0013416 biolink:NamedThing age related macular degeneration 8 Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene. tmpte7i6ely_mondo_relaxed.owl macular Degeneration, age-related, type 8|ARMS2 age-related macular degeneration|ARMD8|age-related macular degeneration caused by mutation in ARMS2|age related macular degeneration type 8|macular degeneration, age-related, 8 UMLS:C3151070|OMIM:613778|DOID:0110020 owl:Class HGNC:32685 biolink:NamedThing ARMS2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2218 biolink:NamedThing COL9A2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002007 biolink:NamedThing detection of hypoxic conditions in blood by chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies. tmpte7i6ely_mondo_relaxed.owl detection of hypoxic conditions in blood by chemoreceptor signalling owl:Class HGNC:2186 biolink:NamedThing COL11A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009367 biolink:NamedThing McKusick-Kaufman syndrome McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. tmpte7i6ely_mondo_relaxed.owl MCKUSICK-Kaufman syndrome|Kaufman McKusick syndrome|hydrometrocolpos syndrome|McKusick Kaufman syndrome|McKusick-Kaufman syndrome|MKKS|Kaufman-Mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|HMCS SCTID:702407009|ICD10:Q87.8|UMLS:C0948368|MESH:C538159|ICD9:758.89|OMIM:236700|Orphanet:2473|DOID:0111255|GARD:0003427|MedDRA:10052312 https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome owl:Class HGNC:7108 biolink:NamedThing MKKS tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30078 biolink:NamedThing REEP6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048332 biolink:NamedThing mesoderm morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7450 biolink:NamedThing MTMR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011547 biolink:NamedThing cataract 31 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene. tmpte7i6ely_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in CHMP4B|CTRCT31|cataract, posterior polar, 3|cataract 31, multiple types|CHMP4B early-onset non-syndromic cataract|posterior polar cataract 3|CPP3|CTPP3 GARD:0010227|Orphanet:98993|ICD10:Q12.0|DOID:0110265|MESH:C535343|OMIM:605387|Orphanet:91492 owl:Class UBERON:0001678 biolink:NamedThing temporal bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25223 biolink:NamedThing COQ2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13p biolink:NamedThing 13p (Human) tmpte7i6ely_mondo_relaxed.owl 17700000 0 hg38 owl:Class MONDO:0009206 biolink:NamedThing factor V and factor VIII, combined deficiency of, type 1 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. tmpte7i6ely_mondo_relaxed.owl factor V and factor VIII, combined deficiency of, type 1|factor V and factor VIII, combined deficiency of, 1|familial multiple coagulation Factor deficiency 1|LMAN1 combined deficiency of factor V and factor VIII|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|F5F8D1|FMFD 1|factor 5 and Factor VIII, combined deficiency of, 1|multiple coagulation Factor deficiency 1 UMLS:C1856883|SCTID:84048006|OMIM:227300|Orphanet:35909 owl:Class HGNC:6631 biolink:NamedThing LMAN1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001843 biolink:NamedThing neural tube closure The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002549 biolink:NamedThing fibroblast of choroid plexus A fibroblast that is part of the choroid plexus. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:01:39Z cell owl:Class MONDO:0024873 biolink:NamedThing clitoral carcinoma A carcinoma that arises from the clitoris. tmpte7i6ely_mondo_relaxed.owl clitoris carcinoma|carcinoma of clitoris|clitoral cancer|carcinoma of the clitoris|clitoral carcinoma UMLS:C1333070|NCIT:C9362 owl:Class UBERON:0002411 biolink:NamedThing clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009522 biolink:NamedThing lateral lingual swelling epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006170 biolink:NamedThing mesonephric capsule tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20134 biolink:NamedThing GLRX5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045766 biolink:NamedThing positive regulation of angiogenesis Any process that activates or increases angiogenesis. tmpte7i6ely_mondo_relaxed.owl up-regulation of angiogenesis|activation of angiogenesis|stimulation of angiogenesis|up regulation of angiogenesis|upregulation of angiogenesis owl:Class HsapDv:0000001 biolink:NamedThing human life cycle Temporal interval that defines human life from the prenatal stage until late adulthood. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4116 biolink:NamedThing GALE tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005421 biolink:NamedThing pectoral appendage apical ectodermal ridge tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030682 biolink:NamedThing Left ventricular noncompaction Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. tmpte7i6ely_mondo_relaxed.owl UMLS:C1960469 human_phenotype owl:Class CHEBI:17137 biolink:NamedThing hydrogensulfite tmpte7i6ely_mondo_relaxed.owl hydrogentrioxosulfate(1-)|hydroxidodioxidosulfate(1-)|hydrogen(trioxidosulfate)(1-)|Hydrogen sulfite|hydrosulfite anion|hydrogensulfite(1-)|monohydrogentrioxosulfate|[SO2(OH)](-)|Bisulfite|bisulphite|HSO3(-)|bisulfite|hydrogentrioxosulfate(IV)|hydrogen sulfite(1-)|HSO3- owl:Class MONDO:0013278 biolink:NamedThing lymphatic malformation 3 Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene. tmpte7i6ely_mondo_relaxed.owl lymphedema, hereditary, IC|GJC2 hereditary lymphedema|hereditary lymphedema caused by mutation in GJC2|LMPH1C|lymphedema, hereditary, 1C|lymphedema, hereditary, type 1C Orphanet:79452|UMLS:C3150732|DOID:0070208|OMIM:613480 owl:Class UBERON:0014871 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070293 biolink:NamedThing renal absorption A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). tmpte7i6ely_mondo_relaxed.owl renal reabsorption|nephron absorption owl:Class HGNC:1366 biolink:NamedThing ADAMTS13 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q31.1 biolink:NamedThing 2q31.1 (Human) tmpte7i6ely_mondo_relaxed.owl 177100000 168900000 hg38 owl:Class GO:0048667 biolink:NamedThing cell morphogenesis involved in neuron differentiation The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. tmpte7i6ely_mondo_relaxed.owl neuron morphogenesis involved in differentiation owl:Class GO:0030182 biolink:NamedThing neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010391 biolink:NamedThing parametrium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005075 biolink:NamedThing forebrain-midbrain boundary tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000015 biolink:NamedThing geographic basin A depression which is part of a planetary crust, is of geographic scale, and is partially or completely enclosed. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014126 biolink:NamedThing Perrault syndrome 4 Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene. tmpte7i6ely_mondo_relaxed.owl Perrault syndrome 4|LARS2 Perrault syndrome|Perrault syndrome type 4|Perrault syndrome caused by mutation in LARS2|PRLTS4 Orphanet:2855|UMLS:C3809105|OMIM:615300 owl:Class HGNC:17095 biolink:NamedThing LARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11084 biolink:NamedThing Tick-borne encephalitis virus tmpte7i6ely_mondo_relaxed.owl TBEV|tick-borne encephalitis virus TBEV|FSME virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013160 biolink:NamedThing epithalamus ventricular layer tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25557 biolink:NamedThing PRMT7 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26836 biolink:NamedThing sulfuric acid A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom. tmpte7i6ely_mondo_relaxed.owl tetraoxosulfuric acid|sulfuric acid|hydrogen tetraoxosulfate(2-)|hydrogen tetraoxosulfate(VI)|H2SO4|sulphuric acid|[S(OH)2O2]|dihydroxidodioxidosulfur|Schwefelsaeureloesungen|Acidum sulfuricum|Acido sulfurico|[SO2(OH)2]|Acide sulfurique|dihydrogen tetraoxosulfate|Sulfuric acid owl:Class CHEBI:35223 biolink:NamedThing catalyst A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction. tmpte7i6ely_mondo_relaxed.owl catalizador|catalyst|Katalysator|catalyseur owl:Class UBERON:0002122 biolink:NamedThing capsule of thymus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014926 biolink:NamedThing Bardet-Biedl syndrome 22 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome type 20|BBS20|Bardet-Biedl syndrome 20; BBS20|IFT74 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in IFT74 UMLS:C4310707|OMIM:617119 owl:Class MONDO:0009901 biolink:NamedThing Bartsocas-Papas syndrome Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. tmpte7i6ely_mondo_relaxed.owl autosomal recessive popliteal pterygium syndrome|lethal popliteal pterygium syndrome|popliteal pterygium syndrome, Bartsocas-Papas type|popliteal pterygium syndrome, lethal type|Bartsocas Papas syndrome|pterygium, popliteal, lethal type|BPS|popliteal pterygium syndrome lethal type|pterygium popliteal lethal type|Bartsocas-Papas syndrome|multiple pterygium syndrome, Aslan type MESH:C564874|GARD:0004436|OMIM:263650|Orphanet:1234|UMLS:C1849718|SCTID:722376008|ICD10:Q87.2 owl:Class UBERON:0010390 biolink:NamedThing lumen of urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035289 biolink:NamedThing axillary tail of breast tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015540 biolink:NamedThing hemophagocytic syndrome Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). tmpte7i6ely_mondo_relaxed.owl hemophagocytic lymphohistiocytosis|HLH|haemophagocytic syndrome|familial histiocytic reticulosis|familial hemophagocytic lymphohistiocytosis|FHL|hemophagocytic syndrome|hemophagocytic disorder|familial erythrophagocytic lymphohistiocytosis MedDRA:10058125|UMLS:C0024291|OMIM:267700|OMIM:608898|SCTID:234437005|GARD:0006589|ICD10:D76.1|NCIT:C35439|Orphanet:158032|OMIM:603552|OMIM:613101|NCIT:C34792|DOID:0050120|Orphanet:540|ICD9:288.8|OMIM:603553|UMLS:C3887558 Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis owl:Class N057f637e5de94625a18365c7cf18d777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:809 biolink:NamedThing Chlamydiaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11211265|PMID:10319506|PMID:11211261|PMID:10319462|PMID:25618261 ncbi_taxonomy owl:Class PATO:0001400 biolink:NamedThing unipotent A cellular potency that is the capacity to produce only one differentiated cell type. tmpte7i6ely_mondo_relaxed.owl owl:Class MAXO:0000058 biolink:NamedThing pharmacotherapy Use of a substance introduced into a living organism with therapeutic or diagnostic purpose. tmpte7i6ely_mondo_relaxed.owl drug therapy|pharmacological treatment|medication therapy|pharmaceutical drug|pharmaceutical treatment|drug treatment|treatment with drug owl:Class N566a54f9060a449c867071062071999c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl CL:0000221 biolink:NamedThing ectodermal cell A cell of the outer of the three germ layers of the embryo. tmpte7i6ely_mondo_relaxed.owl ectoderm cell FMA:72549 cell owl:Class MONDO:0005507 biolink:NamedThing gingival cancer A primary or metastatic malignant neoplasm that affects the gums. tmpte7i6ely_mondo_relaxed.owl malignant tumor of gum|malignant tumour of gingiva|cancer of gingiva|malignant gum tumor|malignant neoplasm of gum|malignant gingival tumor|malignant gingiva neoplasm|malignant gingival neoplasm|malignant tumor of gingiva|malignant neoplasm of the gum|gum cancer|malignant tumor of the gingiva|malignant neoplasm of the gingiva|malignant neoplasm of gingiva|malignant gum neoplasm|gingiva cancer|malignant neoplasm of other sites of gum|malignant tumor of the gum EFO:0005557|ICD10:C03.9|DOID:8602|MedDRA:10067807|UMLS:C0153364|ICD9:143.8|ICD10:C03|ICD9:143|NCIT:C9317|SCTID:363382005|ICD9:143.9 owl:Class MONDO:0012571 biolink:NamedThing primary ciliary dyskinesia 6 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in NME8|CILD6|ciliary dyskinesia, primary, type 6|NME8 primary ciliary dyskinesia|primary ciliary dyskinesia type 6|ciliary dyskinesia, primary, 6 ICD10:Q34.8|MESH:C567057|UMLS:C1970506|OMIM:610852|DOID:0110606 owl:Class GO:1905707 biolink:NamedThing negative regulation of mitochondrial ATP synthesis coupled proton transport Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043025 biolink:NamedThing neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. tmpte7i6ely_mondo_relaxed.owl neuron cell body|neuronal cell soma owl:Class CL:1000457 biolink:NamedThing mesothelial cell of visceral peritoneum A mesothelial cell that is part of the visceral peritoneum. tmpte7i6ely_mondo_relaxed.owl FMA:72143 cell owl:Class UBERON:0012650 biolink:NamedThing gastroduodenal junction tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002105 biolink:NamedThing Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. tmpte7i6ely_mondo_relaxed.owl Haemoptysis|Coughing up blood|Coughing up blood or blood-stained mucus MSH:D006469|UMLS:C0019079|SNOMEDCT_US:66857006|SNOMEDCT_US:6686005 human_phenotype owl:Class UBERON:0000021 biolink:NamedThing cutaneous appendage tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0038064 biolink:NamedThing collagen receptor activity Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpte7i6ely_mondo_relaxed.owl transmembrane collagen receptor activity owl:Class UBERON:0007806 biolink:NamedThing connecting stalk tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036242 biolink:NamedThing post-embryonic notochord tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2418 biolink:NamedThing CRYM tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006603 biolink:NamedThing presumptive mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005991 biolink:NamedThing trench fever An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. tmpte7i6ely_mondo_relaxed.owl fever, trench|Bartonella quintana infectious disease|bartonellosis due to Bartonella quintana infection|tibialgic fever|fevers, trench|trench fevers|quintan fever|shin bone fever|Wolhynian fever|Bartonella quintana caused disease or disorder|trench fever|His-Werner disease|Bartonella quintana disease or disorder ICD10:A79.0|MESH:D014205|EFO:0007519|Orphanet:64694|UMLS:C0040830|DOID:11101|ICD9:083.1|MedDRA:10044582|SCTID:82214002 owl:Class MONDO:0009484 biolink:NamedThing primary ciliary dyskinesia 1 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 1, with or without situs inversus|primary ciliary dyskinesia type 1|immotile cilia syndrome|primary ciliary dyskinesia 1 with or without situs inversus|ciliary dyskinesia, primary, 1|PCD|ciliary dyskinesia, primary, type 1|Siewert syndrome|dextrocardia, bronchiectasis, and sinusitis|primary ciliary dyskinesia caused by mutation in DNAI1|Polynesian bronchiectasis|DNAI1 primary ciliary dyskinesia|Kartagener syndrome|CILD1|primary ciliary dyskinesia 1 DOID:0110594|Orphanet:98861|ICD10:Q34.8|OMIM:244400 owl:Class HGNC:2954 biolink:NamedThing DNAI1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000072 biolink:NamedThing adipose microvascular endothelial cell Any microvascular endothelial cell that is part of a adipose tissue. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7200 TermGenie 2014-10-07T22:13:45Z cell owl:Class GO:0044458 biolink:NamedThing motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a motile cilium. tmpte7i6ely_mondo_relaxed.owl motile primary cilium assembly|nodal cilium formation|motile primary cilium formation|motile primary cilia assembly|motile primary cilia formation|nodal cilium assembly owl:Class MONDO:0003639 biolink:NamedThing lung hilum neoplasm A benign or malignant neoplasm that arises from the hilar region of the lung. tmpte7i6ely_mondo_relaxed.owl lung hilum tumor|neoplasm of hilus of lung|lung hilus tumor|hilar lung neoplasm|lung hilum neoplasm|tumor of lung hilus|neoplasm of lung hilus|hilar lung tumor|lung hilus neoplasm|lung hilus neoplasm (disease) UMLS:C1290358|SCTID:126707007|NCIT:C5671|DOID:5767 owl:Class MONDO:0002595 biolink:NamedThing vaccinia The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. tmpte7i6ely_mondo_relaxed.owl MESH:D014615|UMLS:C0042214|SCTID:111852003|ICD9:999.0|DOID:3298 owl:Class NCBITaxon:552467 biolink:NamedThing Cryptococcus gattii VGIII tmpte7i6ely_mondo_relaxed.owl Cryptococcus bacillisporus VGIII|Cryptococcus bacillisporus|Filobasidiella neoformans var. bacillispora|Filobasidiella bacillispora GC_ID:1 NCBITaxon:1450542 ncbi_taxonomy owl:Class MONDO:0002764 biolink:NamedThing urethra squamous cell carcinoma A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra. tmpte7i6ely_mondo_relaxed.owl urethra epidermoid carcinoma|urethral epidermoid carcinoma|squamous cell carcinoma of the urethra|USCC|squamous cell carcinoma of urethra|epidermoid carcinoma of the urethra|urethral squamous cell cancer|urethra squamous cell carcinoma|urethral squamous cell carcinoma|epidermoid carcinoma of urethra NCIT:C6165|DOID:3750|UMLS:C1336890|ONCOTREE:USCC owl:Class UBERON:0001272 biolink:NamedThing innominate bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014252 biolink:NamedThing familial hypobetalipoproteinemia 1 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. tmpte7i6ely_mondo_relaxed.owl FHBL1|APOB hypobetalipoproteinemia|familial hypobetalipoproteinemia type 1|FHBL|hypobetalipoproteinemia, Normotriglyceridemic|hypobetalipoproteinemia, familial, 1|hypobetalipoproteinemia, familial, type 1|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|familial hypobetalipoproteinemia 1|hypobetalipoproteinemia caused by mutation in APOB DOID:0111062|SCTID:60193003|MESH:C566267|GARD:0002876|OMIM:615558|UMLS:CN182502 owl:Class UBERON:0006657 biolink:NamedThing glenoid fossa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004753 biolink:NamedThing scapulocoracoid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004099 biolink:NamedThing joint space of elbow tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015020 biolink:NamedThing intellectual disability, autosomal recessive 59 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive type 59|intellectual disability, autosomal recessive 59|IMPA1 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1|intellectual disability, autosomal recessive type 59|MRT59|mental retardation, autosomal recessive 59 UMLS:C4310619|OMIM:617323 owl:Class HGNC:6050 biolink:NamedThing IMPA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003074 biolink:NamedThing mesonephric duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020176 biolink:NamedThing palpebral sebaceous gland tumor A neoplasm (disease) that involves the sebaceous gland of eyelid. tmpte7i6ely_mondo_relaxed.owl sebaceous gland of eyelid tumor|tumor of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm|neoplasm of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm (disease) Orphanet:98585|UMLS:CN207036 owl:Class GO:0035229 biolink:NamedThing positive regulation of glutamate-cysteine ligase activity Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate. tmpte7i6ely_mondo_relaxed.owl up regulation of glutamate-cysteine ligase activity|upregulation of glutamate-cysteine ligase activity|stimulation of glutamate-cysteine ligase activity|activation of glutamate-cysteine ligase activity|up-regulation of glutamate-cysteine ligase activity owl:Class GO:0004357 biolink:NamedThing glutamate-cysteine ligase activity Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate. tmpte7i6ely_mondo_relaxed.owl gamma-glutamyl-L-cysteine synthetase activity|gamma-glutamylcysteine synthetase activity|L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity|gamma-glutamylcysteinyl synthetase activity owl:Class HGNC:6155 biolink:NamedThing ITGB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002683 biolink:NamedThing adult choroid plexus neoplasm A choroid plexus neoplasm that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl tumor of adult choroid plexus|adult choroid plexus tumor|tumor of the adult choroid plexus|choroid plexus neoplasm|choroid plexus neoplasm of adults|neoplasm of adult choroid plexus|adult choroid plexus cancer|neoplasm of the adult choroid plexus|adult choroid plexus neoplasm UMLS:C0796430|NCIT:C8568|DOID:3542 owl:Class HGNC:6709 biolink:NamedThing LTA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4174 biolink:NamedThing GATA6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011826 biolink:NamedThing glucocorticoid deficiency 2 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene. tmpte7i6ely_mondo_relaxed.owl GCCD2|MRAP familial glucocorticoid deficiency|glucocorticoid deficiency 2|familial glucocorticoid deficiency 2|familial glucocorticoid deficiency caused by mutation in MRAP|glucocorticoid deficiency type 2 Orphanet:361|OMIM:607398|NCIT:C123728|UMLS:C1846284 owl:Class OBO:CHR_9606-chr4p16.3 biolink:NamedThing 4p16.3 (Human) tmpte7i6ely_mondo_relaxed.owl 4500000 0 hg38 owl:Class OBO:CHR_9606-chr4p16 biolink:NamedThing 4p16 (Human) tmpte7i6ely_mondo_relaxed.owl 11300000 0 hg38 owl:Class MONDO:0004877 biolink:NamedThing transient neonatal thrombocytopenia tmpte7i6ely_mondo_relaxed.owl SCTID:23205009|ICD9:776.1|UMLS:C0158991|DOID:9771|ICD10:P61.0 owl:Class MONDO:0007863 biolink:NamedThing Kleine-Levin syndrome Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. tmpte7i6ely_mondo_relaxed.owl Kleine-LEVIN hibernation syndrome|Kleine Levin syndrome|familial hibernation syndrome|Kleine-Levin syndrome|familial Kleine-Levin syndrome MESH:D017593|Orphanet:33543|OMIM:148840|DOID:0060165|GARD:0003117|MedDRA:10053712|ICD10:G47.8|SCTID:111488004|UMLS:C0206085|EFO:1001354|NCIT:C84800 https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome owl:Class MONDO:0021950 biolink:NamedThing autoimmune oophoritis Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions. tmpte7i6ely_mondo_relaxed.owl UMLS:C0878654|GARD:0009461|MESH:C538274 https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis owl:Class MONDO:0013987 biolink:NamedThing combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 15|combined oxidative phosphorylation deficiency type 15|MTFMT combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MTFMT|combined oxidative phosphorylation defect type 15|COXPD15 UMLS:C3554182|SCTID:763203009|DOID:0111491|ICD10:G31.8|Orphanet:319524|OMIM:614947 owl:Class HGNC:25018 biolink:NamedThing TMEM216 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018837 biolink:NamedThing postinfectious vasculitis Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. tmpte7i6ely_mondo_relaxed.owl SCTID:724063005|Orphanet:48435|ICD10:I77.6|UMLS:C4510302 owl:Class HP:0001618 biolink:NamedThing Dysphonia An impairment in the ability to produce voice sounds. tmpte7i6ely_mondo_relaxed.owl Voice change|Inability to produce voice sounds MSH:D055154|SNOMEDCT_US:47004009|UMLS:C1527344 human_phenotype owl:Class MONDO:0014357 biolink:NamedThing intellectual disability, autosomal dominant 24 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 24|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1|autosomal dominant non-syndromic intellectual disability 24|autosomal dominant intellectual disability 24|MRD24|intellectual disability, autosomal dominant 24|intellectual disability, autosomal dominant type 24|autosomal dominant mental retardation 24|DEAF1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 24 UMLS:C4014414|DOID:0070054|OMIM:615828 owl:Class MONDO:0014814 biolink:NamedThing advanced sleep phase syndrome 3 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene. tmpte7i6ely_mondo_relaxed.owl PER3 advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 3|advanced sleep phase syndrome, familial, type 3|advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome type 3|FASPS3|familial advanced sleep phase syndrome 3 OMIM:616882|DOID:0110013|UMLS:C4225169 owl:Class HGNC:8847 biolink:NamedThing PER3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010614 biolink:NamedThing X-linked congenital generalized hypertrichosis X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. tmpte7i6ely_mondo_relaxed.owl chromosome Xq27.1 interchromosomal insertion syndrome|chromosome Xq27.1 Interchromosomal insertion syndrome|hypertrichosis congenital generalized X-linked|Cgh|hCG|HTC2|Macias Flores-Garcia Cruz-Rivera syndrome|Macias-Flores Garcia-Cruz Rivera syndrome|congenital generalized hypertrichosis, Macias-Flores type|hypertrichosis, congenital generalized ICD10:Q84.2|OMIM:307150|Orphanet:2222|Orphanet:79495|GARD:0002863|MESH:C538388 https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis owl:Class UBERON:0011925 biolink:NamedThing preganglionic autonomic fiber tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050911 biolink:NamedThing detection of chemical stimulus involved in sensory perception of smell The series of events involved in the perception of smell in which an olfactory chemical stimulus is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl sensory transduction of smell|sensory detection of smell|perception of smell, sensory detection of chemical stimulus|sensory detection of scent|sensory transduction of chemical stimulus during perception of smell|perception of smell, detection of chemical stimulus|sensory detection of chemical stimulus during perception of smell|perception of smell, sensory transduction of chemical stimulus|sensory transduction of scent owl:Class NCBITaxon:157541 biolink:NamedThing Zygodontomys brevicauda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014280 biolink:NamedThing immunodeficiency 19 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene. tmpte7i6ely_mondo_relaxed.owl CD3delta deficiency|CD3D severe combined immunodeficiency (disease)|CD3-Delta deficiency|severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency type 19|SCID, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency 19|severe combined immunodeficiency (disease) caused by mutation in CD3D|CD3D|IMD19 DOID:0060016|OMIM:615617|UMLS:C3810147|Orphanet:169160 owl:Class MONDO:0014581 biolink:NamedThing congenital myasthenic syndrome 2A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, slow-channel|congenital myasthenic syndrome 2A slow-channel|CMS IIa|myasthenic syndrome, congenital, postsynaptic slow-channel|myasthenic syndrome, congenital, type IIa|myasthenic syndrome, congenital, 2A, slow-channel|congenital myasthenic syndrome type 2A|slow channel congenital myasthenic syndrome|CMS2A|SCCMS OMIM:616313|GARD:0009895|UMLS:C4225374|DOID:0110681|Orphanet:590 owl:Class HGNC:1961 biolink:NamedThing CHRNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004743 biolink:NamedThing hyperhomocysteinemia A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. tmpte7i6ely_mondo_relaxed.owl hyperhomocysteinemia|homocysteinemia OMIM:603174|SCTID:419503008|UMLS:C0598608|DOID:9279|NCIT:C84770|GARD:0008230|MESH:D020138|UMLS:C3495426 https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia|https://github.com/monarch-initiative/mondo/issues/3247 owl:Class HP:0002160 biolink:NamedThing Hyperhomocystinemia An increased concentration of homocystine in the blood. tmpte7i6ely_mondo_relaxed.owl Homocystinemia|Elevated blood homocystine UMLS:C3806347 Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. human_phenotype owl:Class GO:0006568 biolink:NamedThing tryptophan metabolic process The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpte7i6ely_mondo_relaxed.owl tryptophan metabolism owl:Class UBERON:0004040 biolink:NamedThing cortical intermediate zone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008045 biolink:NamedThing spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. tmpte7i6ely_mondo_relaxed.owl hereditary myoclonus and progressive distal muscular atrophy|myoclonus hereditary progressive distal muscular atrophy|hereditary myoclonus-progressive distal muscular atrophy syndrome|Jankovic Rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy|spinal muscular atrophy with progressive myoclonic epilepsy|SMAPME|Jankovic-Rivera syndrome SCTID:703524005|OMIM:159950|GARD:0003044|MESH:C537563|GARD:0003875|DOID:0111527|ICD10:G25.3|ICD9:345.10|Orphanet:2590|UMLS:C1834569 owl:Class HGNC:9040 biolink:NamedThing PLA2G7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003726 biolink:NamedThing thoracic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:138103 biolink:NamedThing inorganic acid A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water. tmpte7i6ely_mondo_relaxed.owl mineral acids|mineral acid|inorganic acids owl:Class UBERON:0004862 biolink:NamedThing left lung alveolus tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35493 biolink:NamedThing antipyretic A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever. tmpte7i6ely_mondo_relaxed.owl anti-pyretic owl:Class HGNC:12811 biolink:NamedThing XK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018484 biolink:NamedThing semicircular canal dehiscence syndrome Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. tmpte7i6ely_mondo_relaxed.owl SCD syndrome|superior canal syndrome|Minor's syndrome|Minorbs syndrome|third mobile window syndrome|superior canal dehiscence|superior semicircular canal dehiscence|canal dehiscence syndrome|superior semicircular canal dehiscence syndrome ICD10:H83.8|GARD:0010993|DOID:0080193|Orphanet:420402|SCTID:717799003 owl:Class UBERON:0003244 biolink:NamedThing epithelium of mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007845 biolink:NamedThing Kaposi sarcoma, susceptibility to tmpte7i6ely_mondo_relaxed.owl multicentric Castleman disease, susceptibility to|Kaposi sarcoma, susceptibility to|multiple idiopathic pigmented hemangiosarcoma, susceptibility to|susceptibility to Kaposi sarcoma Orphanet:33276|OMIM:148000|Orphanet:160 owl:Class MONDO:0005055 biolink:NamedThing Kaposi's sarcoma A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). tmpte7i6ely_mondo_relaxed.owl Kaposi's sarcoma of cornea|Kaposi's sarcoma of anus|Kaposi's sarcoma, skin|KS|Kaposi's sarcoma of the prostate|prostate Kaposi's sarcoma|Kaposi's sarcoma of esophagus|anal Kaposi's sarcoma|Kaposi's sarcoma (disease)|esophageal Kaposi's sarcoma|Kaposi's sarcoma of skin|Kaposi's sarcoma of soft tissues|Kaposi's sarcoma, lung|HHV8|conjunctival Kaposi's sarcoma|Kaposi's sarcoma of central nervous system|gallbladder Kaposi's sarcoma|Kaposi's sarcoma of heart|intestinal Kaposi's sarcoma|Kaposi's sarcoma of soft tissue|pulmonary Kaposi's sarcoma|soft tissue Kaposi's sarcoma|Kaposi sarcoma|Kaposi's sarcoma of penis|Kaposi's sarcoma of the CNS|palate Kaposi's sarcoma|human herpesvirus 8|non AIDS related Kaposi sarcoma|cutaneous Kaposi's sarcoma|corneal Kaposi's sarcoma|Mediterranean Kaposi sarcoma|cardiac Kaposi's sarcoma|Kaposi's sarcoma of lung|Kaposi's sarcoma of the gallbladder|lymph node Kaposi's sarcoma|Kaposi's sarcoma of conjunctiva|lymphadenopathic Kaposi's sarcoma|Kaposi's sarcoma of palate|KSHV|African lymphadenopathic Kaposi's sarcoma|Kaposi's sarcoma-associated herpesvirus (KSHV)|Kaposi's sarcoma of gastrointestinal sites|multiple hemorrhagic sarcoma|Kaposi's sarcoma of lymph nodes|central nervous system Kaposi's sarcoma|gastric Kaposi's sarcoma|Kaposi's sarcoma|Kaposi sarcoma herpesvirus|penis Kaposi's sarcoma Kaposi's sarcoma (disease) SCTID:109385007|ICD10:C46.3|HP:0100726|DOID:8632|ICD10:C46.0|ICD9:176.9|EFO:0000558|Orphanet:33276|OMIM:148000|ICD10:C46.9|ICDO:9140/3|GARD:0006814|MedDRA:10023284|ICD9:176|MESH:D012514|ICD9:176.8|ICD10:C46.7|NCIT:C9087|ICD10:C46.8|ICD10:C46.1|ICD10:C46.2 owl:Class MONDO:0001121 biolink:NamedThing frontal sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. tmpte7i6ely_mondo_relaxed.owl MESH:D015522|NCIT:C34626|UMLS:C0016735|DOID:10791|SCTID:78737005|ICD10:J32.1 owl:Class NCBITaxon:621 biolink:NamedThing Shigella boydii tmpte7i6ely_mondo_relaxed.owl PMID:16561743|GC_ID:11 ncbi_taxonomy owl:Class HGNC:18037 biolink:NamedThing ARID2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5218 biolink:NamedThing HSD3B2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013794 biolink:NamedThing thrombocythemia 3 Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene. tmpte7i6ely_mondo_relaxed.owl THCYT3|JAK2 familial thrombocytosis|thrombocythemia 3|thrombocytosis 3|thrombocythemia type 3|familial thrombocytosis caused by mutation in JAK2 Orphanet:3318|UMLS:C3281125|Orphanet:71493|OMIM:614521 https://github.com/monarch-initiative/mondo/issues/230 owl:Class HGNC:6192 biolink:NamedThing JAK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011311 biolink:NamedThing glaucoma 1, open angle, F tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, type F|GLC1F|glaucoma, primary open angle, adult-onset|glaucoma 1, open angle, F OMIM:603383|MESH:C566383 owl:Class HGNC:17185 biolink:NamedThing ASB10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012170 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 36 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 36|autosomal recessive nonsyndromic deafness caused by mutation in ESPN|ESPN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 36, with or without vestibular involvement|autosomal recessive deafness 36|DFNB36|deafness, autosomal dominant, without vestibular involvement|autosomal recessive nonsyndromic deafness 36 DOID:0110494|MESH:C563815|ICD10:H90.3|OMIM:609006 owl:Class HGNC:13281 biolink:NamedThing ESPN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010169 biolink:NamedThing Usher syndrome type 2A Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene. tmpte7i6ely_mondo_relaxed.owl Usher syndrome, type 2A|USH2A Usher syndrome|USH2A|Usher syndrome caused by mutation in USH2A|USHER syndrome, type IIA|Usher syndrome type IIA|Usher syndrome type 2A|US2 GARD:0005440|DOID:0110838|OMIM:276901|Orphanet:231178|UMLS:C1848634|MESH:C536490|Orphanet:886|ICD10:H35.5 owl:Class CHEBI:78675 biolink:NamedThing fundamental metabolite Any metabolite produced by all living cells. tmpte7i6ely_mondo_relaxed.owl fundamental metabolites|essential metabolites|essential metabolite owl:Class OBO:CHR_9606-chr7p11.2-p13 biolink:NamedThing 7p11.2-p13 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class OBO:CHR_9606-chr7p biolink:NamedThing 7p (Human) tmpte7i6ely_mondo_relaxed.owl 60100000 0 hg38 owl:Class GO:0001677 biolink:NamedThing formation of translation initiation ternary complex Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). tmpte7i6ely_mondo_relaxed.owl translation initiation ternary complex assembly owl:Class MONDO:0018153 biolink:NamedThing Erdheim-Chester disease Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. tmpte7i6ely_mondo_relaxed.owl lipogranulomatosis|Erdheim-Chester disease|polyostotic sclerosing histiocytosis|ECD|Erdheim Chester disease|lipoid granulomatosis ICD10:D76.3|MESH:D031249|ONCOTREE:ECD|GARD:0006369|EFO:1000926|SCTID:699537002|NCIT:C53972|MedDRA:10060801|DOID:4329|ICD9:277.89|Orphanet:35687|UMLS:C0878675 owl:Class UBERON:0006272 biolink:NamedThing oronasal cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012134 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl EJM3|myoclonic epilepsy, juvenile, susceptibility to, 3 DOID:0111326|OMIM:608816|UMLS:C1837308|Orphanet:307 owl:Class MONDO:0013994 biolink:NamedThing Joubert syndrome 20 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome caused by mutation in TMEM231|Joubert syndrome type 20|Joubert syndrome 20|JBTS20|TMEM231 Joubert syndrome Orphanet:220493|Orphanet:475|OMIM:614970|DOID:0110989|UMLS:C3554235 owl:Class UBERON:0001457 biolink:NamedThing skin of eyelid tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009572 biolink:NamedThing lumen of central canal of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003842 biolink:NamedThing neural tube lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015019 biolink:NamedThing susceptibility to Yao syndrome tmpte7i6ely_mondo_relaxed.owl Yao syndrome|YAOS UMLS:C4310620|SCTID:768667002|OMIM:617321 owl:Class UBERON:0016542 biolink:NamedThing limbic cortex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6715 biolink:NamedThing LTBP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003282 biolink:NamedThing mesentery of heart tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020722 biolink:NamedThing nephrolithiasis susceptibility caused by SLC26A1 tmpte7i6ely_mondo_relaxed.owl urolithiasis, calcium oxalate|CAON|nephrolithiasis, calcium oxalate UMLS:C1833683|OMIM:167030 owl:Class HGNC:19073 biolink:NamedThing THOC2 tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0020144 biolink:NamedThing apical meristem A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025). tmpte7i6ely_mondo_relaxed.owl 頂端分裂組織 (Japanese, exact)|promeristem (broad)|meristema apical (Spanish, exact)|primary meristem (related)|AM (exact) PO_GIT:579 plant_anatomy owl:Class PO:0006210 biolink:NamedThing protoderm A portion of meristem tissue (PO:0009013) that is the outer layer of an apical meristem (PO:0020144), or the outer layer of a plant embryo proper (PO:0000001), and gives rise to a portion of epidermis (PO:0005679). tmpte7i6ely_mondo_relaxed.owl portion of protoderm tissue (exact)|dermatogen cell (related)|protodermis (Spanish, exact)|前表皮、原表皮 (Japanese, exact) PO_GIT:125 A protoderm may or may not arise from independent initial cells (PO:0004011). Some researchers also refer to it as an epidermis in a meristematic state. plant_anatomy owl:Class MONDO:0018676 biolink:NamedThing eosinophilic angiocentric fibrosis tmpte7i6ely_mondo_relaxed.owl Sinonasal eosinophilic angiocentric fibrosis|eosinophilic angiocentric fibrosis|EAF|IgG4-related eosinophilic angiocentric fibrosis ICD10:J39.8|GARD:0002032|Orphanet:449566 https://rarediseases.info.nih.gov/diseases/2032/eaf owl:Class MONDO:0013179 biolink:NamedThing hereditary spastic paraplegia 44 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. tmpte7i6ely_mondo_relaxed.owl SPG44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|spastic paraplegia 44, autosomal recessive|GJC2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 44|autosomal recessive spastic paraplegia type 44|hereditary spastic paraplegia type 44 Orphanet:320401|MESH:C567707|UMLS:C2750784|SCTID:723821002|ICD10:G11.4|OMIM:613206|DOID:0110796 owl:Class HP:0010985 biolink:NamedThing Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023613 peter 2011-02-08T10:16:28Z human_phenotype owl:Class MONDO:0014539 biolink:NamedThing focal segmental glomerulosclerosis 9 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. tmpte7i6ely_mondo_relaxed.owl focal segmental glomerulosclerosis caused by mutation in CRB2|FSGS9|focal segmental glomerulosclerosis 9|glomerulosclerosis, focal segmental, 9|CRB2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis type 9 ICD10:N04.1|UMLS:C4015555|OMIM:616220|DOID:0111134 owl:Class HGNC:18688 biolink:NamedThing CRB2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045911 biolink:NamedThing positive regulation of DNA recombination Any process that activates or increases the frequency, rate or extent of DNA recombination. tmpte7i6ely_mondo_relaxed.owl activation of DNA recombination|up regulation of DNA recombination|upregulation of DNA recombination|up-regulation of DNA recombination|stimulation of DNA recombination owl:Class UBERON:0007699 biolink:NamedThing tract of spinal cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000667 biolink:NamedThing auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. tmpte7i6ely_mondo_relaxed.owl DOID:0060137 owl:Class GO:0007605 biolink:NamedThing sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. tmpte7i6ely_mondo_relaxed.owl hearing|perception of sound owl:Class MONDO:0032634 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 31 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31|MC1DN31 OMIM:618251 owl:Class HGNC:1321 biolink:NamedThing TIMMDC1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:29793 biolink:NamedThing hydridodioxygen(1+) tmpte7i6ely_mondo_relaxed.owl dioxidenium|HOO(+)|HO2(+)|[HO2](+)|hydridodioxygen(1+) owl:Class MONDO:0004522 biolink:NamedThing peritonitis Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. tmpte7i6ely_mondo_relaxed.owl inflammation of peritoneum|primary bacterial peritonitis|peritoneum inflammation|acute generalized peritonitis|retractile mesenteritis NCIT:C26849|EFO:0008588|DOID:8283|ICD9:567.8|SCTID:86422009|ICD9:567.82|ICD9:567.89 owl:Class MONDO:0009424 biolink:NamedThing Bartter disease type 2 Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. tmpte7i6ely_mondo_relaxed.owl hypokalemic alkalosis with hypercalciuria 2 antenatal|Bartter syndrome type 2|KCNJ1 Bartter syndrome|Bartter disease type 2|Bartter syndrome antenatal type 2|hypokalemic alkalosis with hypercalciuria, antenatal, 2|Bartter syndrome caused by mutation in KCNJ1|Bartter syndrome type 2 antenatal|Bartter syndrome, antenatal, type 2|hypokalemic alkalosis with hypercalciuria antenatal 2|Bartter syndrome, type 2, antenatal|hypokalemic alkalosis with hypercalciuria 2, antenatal|BARTS2|hyperprostaglandin E syndrome 2 GARD:0009658|DOID:0110143|SCTID:700109009|Orphanet:93604|Orphanet:112|OMIM:241200|MESH:C537651|ICD10:E26.8 owl:Class HGNC:6255 biolink:NamedThing KCNJ1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001830 biolink:NamedThing minor salivary gland tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:60924 biolink:NamedThing keratan sulfate A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide [3)-beta-Gal-(1->4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions. tmpte7i6ely_mondo_relaxed.owl keratan sulfates|keratosulfate owl:Class CHEBI:29057 biolink:NamedThing keratan tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011668 biolink:NamedThing maturity-onset diabetes of the young type 6 Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. tmpte7i6ely_mondo_relaxed.owl MODY6|MODY, type 6|maturity-onset diabetes of the young, type 6|neurogenic differentiation Factor 1-associated monogenic diabetes|MODY NEUROD1 related|maturity onset diabetes of the Young, type 6|NEUROD1-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1|diabetes mellitus MODY type 6|NEUROD1 maturity-onset diabetes of the young (disease)|type 6 maturity-onset diabetes of the young|MODY type 6 NCIT:C129745|SCTID:609573005|GARD:0010660|UMLS:C1853371|MESH:C565231|Orphanet:552|OMIM:606394|DOID:0111104 https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6 owl:Class HGNC:7762 biolink:NamedThing NEUROD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011093 biolink:NamedThing left pelvic girdle region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14432 biolink:NamedThing TMEM237 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013652 biolink:NamedThing narcolepsy 7 Any narcolepsy in which the cause of the disease is a mutation in the MOG gene. tmpte7i6ely_mondo_relaxed.owl NRCLP7|narcolepsy 7|narcolepsy caused by mutation in MOG|MOG narcolepsy|narcolepsy type 7 Orphanet:2073|UMLS:C3280266|OMIM:614250 owl:Class UBERON:0010366 biolink:NamedThing conjunctival vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19q13.1 biolink:NamedThing 19q13.1 (Human) tmpte7i6ely_mondo_relaxed.owl 38200000 31900000 hg38 owl:Class UBERON:0010547 biolink:NamedThing pedal digit 1 metatarsal pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015647 biolink:NamedThing thinking seizures Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. tmpte7i6ely_mondo_relaxed.owl ICD10:G40.8|Orphanet:166424|UMLS:CN200057|SCTID:763622006 owl:Class OBO:MF_0000013 biolink:NamedThing thinking a mental process that involves the manipulation of mental language and/or mental images tmpte7i6ely_mondo_relaxed.owl act of thinking owl:Class UBERON:0010580 biolink:NamedThing pedal digit 1 phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002326 biolink:NamedThing lamina propria of urethra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003070 biolink:NamedThing axillary lymphadenitis An infection of the lymph nodes in the axilla. tmpte7i6ely_mondo_relaxed.owl lymphadenitis (disease) of axilla|axillary lymphadenitis|axilla lymphadenitis (disease)|axillary adenitis UMLS:C0919797|NCIT:C27333|DOID:4640 owl:Class HGNC:6694 biolink:NamedThing LRP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034681 biolink:NamedThing vocal organ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031347 biolink:NamedThing regulation of defense response Any process that modulates the frequency, rate or extent of a defense response. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022361 biolink:NamedThing lung field tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020124 biolink:NamedThing neuromuscular junction disease Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. tmpte7i6ely_mondo_relaxed.owl ICD10:G70.8|ICD10:G70.0|MESH:D020511|ICD10:G70.1|ICD10:G70.2|ICD10:G70.9|Orphanet:98491|DOID:439|SCTID:128213006|UMLS:C0751950 owl:Class GO:0031594 biolink:NamedThing neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. tmpte7i6ely_mondo_relaxed.owl NMJ|motor endplate owl:Class MONDO:0016858 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. tmpte7i6ely_mondo_relaxed.owl blepharophimosis types 1 and 2 due to a point mutation UMLS:CN202201|Orphanet:261572|ICD10:Q10.3|OMIM:110100 owl:Class HGNC:3705 biolink:NamedThing FIBP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8931 biolink:NamedThing PHKG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007607 biolink:NamedThing Birt-Hogg-Dube syndrome Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. tmpte7i6ely_mondo_relaxed.owl Birt-Hogg-Dube syndrome|Birt-Hogg-Dubé syndrome|BHD syndrome|BHD|Birt Hogg Dube syndrome|fibrofolliculomas with trichodiscomas and acrochordons|Hornstein-Knickenberg syndrome DOID:0050676|UMLS:C0346010|Orphanet:122|ICD9:704.8|EFO:1001273|MESH:D058249|SCTID:110985001|NCIT:C28244|MedDRA:10067736|OMIM:135150|GARD:0002322 owl:Class MONDO:0016735 biolink:NamedThing papillary glioneuronal tumor A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present. tmpte7i6ely_mondo_relaxed.owl pseudopapillary ganglioglioneurocytoma|pseudopapillary neurocytoma with glial differentiation|PGNT|papillary glioneuronal tumor (WHO grade I) NCIT:C92554|UMLS:C2985174|ICDO:9509/1|ONCOTREE:PGNT|Orphanet:251962 owl:Class UBERON:0008886 biolink:NamedThing pulmonary vascular system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018738 biolink:NamedThing benign metanephric tumour A benign neoplasm that involves the metanephros. tmpte7i6ely_mondo_relaxed.owl ICD10:D30.0|Orphanet:464359|UMLS:CN242075 owl:Class MONDO:0021081 biolink:NamedThing anti-NMDA receptor encephalitis An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor. tmpte7i6ely_mondo_relaxed.owl anti-NMDA receptor encephalitis NCIT:C94853|MESH:D060426 owl:Class MONDO:0013696 biolink:NamedThing chromosome 2P16.3 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 2P16.3 deletion syndrome|schizophrenia 17 UMLS:C3808494|OMIM:614332 owl:Class MONDO:0007422 biolink:NamedThing keratoderma hereditarium mutilans tmpte7i6ely_mondo_relaxed.owl mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|PPK mutilans and deafness|VOWNKL|Vohwinkel syndrome|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes|mutilating keratoderma|mutilating keratoderma of Vohwinkel|KHM SCTID:24559001|DOID:0111339|MESH:C536457|GARD:0003092|Orphanet:494|OMIM:124500|ICD9:757.39|ICD10:Q82.8 owl:Class MONDO:0019191 biolink:NamedThing IgG4-related dacryoadenitis and sialadenitis IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. tmpte7i6ely_mondo_relaxed.owl Mikulicz's disease|Mikulicz's disease (former)|Mikulicz disease (former)|chronic dacryoadenitis and sialadenitis|Mikulicz disease|Mikulicz syndrome (former) Orphanet:79078|ICD10:K11.8|NCIT:C34819|UMLS:C0026103|MedDRA:10051457|DOID:12900|MedDRA:10052317|GARD:0007043|SCTID:7826003|MESH:D008882 https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis owl:Class MONDO:0011560 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl SLEB3|systemic lupus erythematosus, susceptibility to, 3 OMIM:605480 owl:Class GO:0070126 biolink:NamedThing mitochondrial translational termination The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). tmpte7i6ely_mondo_relaxed.owl mitochondrial translation termination owl:Class MONDO:0008443 biolink:NamedThing spastic paraplegia-precocious puberty syndrome Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. tmpte7i6ely_mondo_relaxed.owl familial spastic paraplegia, intellectual disability, and precocious puberty|spastic paraplegia with precocious puberty|familial spastic paraplegia, mental retardation, and precocious puberty|precocious puberty with spastic paraplegia Orphanet:2826|OMIM:182820|GARD:0004918|MESH:C536874|UMLS:C1866850 owl:Class MONDO:0100104 biolink:NamedThing fetal akinesia deformation sequence 4 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene. tmpte7i6ely_mondo_relaxed.owl FADS4 DOID:0111379|OMIM:618393 owl:Class MONDO:0008722 biolink:NamedThing short chain acyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. tmpte7i6ely_mondo_relaxed.owl ACADSD|short-chain acyl-coenzyme A dehydrogenase deficiency|SCAD deficiency|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|acyl-CoA dehydrogenase, short-chain, deficiency OF|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency|short chain acyl-CoA dehydrogenase deficiency|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|acyl-CoA dehydrogenase, short-chain deficiency|Scad deficiency|Acads deficiency|Scadh deficiency|short-chain acyl-CoA dehydrogenase deficiency|SCAD|ACADS deficiency|SCADD ICD10:E71.312|Orphanet:26792|GARD:0004822|NCIT:C84539|MESH:C537596|ICD10:E71.3|OMIM:201470|DOID:0080154 https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency owl:Class UBERON:0036285 biolink:NamedThing wall of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005171 biolink:NamedThing hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014325 biolink:NamedThing pachyonychia congenita 4 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. tmpte7i6ely_mondo_relaxed.owl pachyonychia congenita 4|PC4|pachyonychia congenita caused by mutation in KRT6B|KRT6B pachyonychia congenita|pachyonychia congenita type 4 OMIM:615728|Orphanet:2309|UMLS:C3714949 owl:Class HGNC:6444 biolink:NamedThing KRT6B tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000081 biolink:NamedThing melanocyte of skin of face Any melanocyte of skin that is part of a skin of face. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T19:10:40Z cell owl:Class MONDO:0017690 biolink:NamedThing disorder of galactose metabolism tmpte7i6ely_mondo_relaxed.owl ICD10:E74.2|SCTID:237963003|UMLS:C0342745|Orphanet:308467 owl:Class GO:0006012 biolink:NamedThing galactose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. tmpte7i6ely_mondo_relaxed.owl galactose metabolism owl:Class MONDO:0005949 biolink:NamedThing roseolovirus infectious disease Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children. tmpte7i6ely_mondo_relaxed.owl Roseolovirus infectious disease|Roseolovirus disease or disorder|Roseolovirus caused disease or disorder EFO:0007474|UMLS:C0376549|MESH:D019349 owl:Class HGNC:25240 biolink:NamedThing ANO6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016956 biolink:NamedThing partial trisomy of the long arm of chromosome 5 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial duplication of the long arm of chromosome 5|5q trisomy|partial trisomy 5q|partial trisomy of chromosome 5q|partial trisomy of the long arm of chromosome type 5|chromosome 5q duplication|partial duplication of chromosome 5q|5q duplication|Duplication 5q|trisomy 5q GARD:0005351|Orphanet:262869|MESH:C537650|UMLS:C1802398 owl:Class OBO:CHR_9606-chr5q biolink:NamedThing 5q (Human) tmpte7i6ely_mondo_relaxed.owl 181538259 48800000 hg38 owl:Class UBERON:0004935 biolink:NamedThing submucosa of cardia of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000636 biolink:NamedThing Mueller cell Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer. tmpte7i6ely_mondo_relaxed.owl Muller glia|Müller cell BTO:0003064 cell owl:Class NCBITaxon:12092 biolink:NamedThing Hepatovirus A tmpte7i6ely_mondo_relaxed.owl Hepatitis A virus|HAV GC_ID:1 ncbi_taxonomy owl:Class PATO:0000963 biolink:NamedThing opaque A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. tmpte7i6ely_mondo_relaxed.owl cloudy|non-transparent|clouding owl:Class MONDO:0022760 biolink:NamedThing chromosome 22q deletion tmpte7i6ely_mondo_relaxed.owl partial deletion of the long arm of chromosome 22|partial deletion of chromosome 22q|deletion 22q|22q monosomy|partial deletion of the long arm of chromosome type 22|monosomy 22q|22q deletion|partial monosomy 22q|partial monosomy of chromosome 22q|partial monosomy of the long arm of chromosome 22 GARD:0008668|Orphanet:262182|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion owl:Class MONDO:0700067 biolink:NamedThing myopathy caused by variation in FKTN Any myopathy in which the cause of the disease is a variation in the FKTN gene. tmpte7i6ely_mondo_relaxed.owl FKTN-related myopathy|FKTN myopathy|myopathy caused by mutation in FKTN http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0000153 biolink:NamedThing anterior region of body tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030431 biolink:NamedThing sleep Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. tmpte7i6ely_mondo_relaxed.owl lethargus|diapause|dormancy owl:Class UBERON:0004490 biolink:NamedThing cardiac muscle tissue of atrium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002302 biolink:NamedThing myocardium of atrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005662 biolink:NamedThing balantidiasis Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. tmpte7i6ely_mondo_relaxed.owl Human balantidiasis|B coli infection|ciliary dysentery|Balantidium coli infection|large-intestinal infection with Balantidium coli|balantidiosis|Balantidiases DOID:12386|MedDRA:10004080|UMLS:C0004692|Orphanet:1223|MESH:D001447|NCIT:C84583|GARD:0000809|ICD9:007.0|EFO:0007163|SCTID:57725006|ICD10:A07.0 https://rarediseases.info.nih.gov/diseases/809/balantidiasis owl:Class HGNC:7414 biolink:NamedThing MT-ATP6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:22197 biolink:NamedThing AP5Z1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28908 biolink:NamedThing DNAJC12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014191 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 5 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene. tmpte7i6ely_mondo_relaxed.owl catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN|CVPT5|catecholaminergic polymorphic ventricular tachycardia type 5|CPVT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|TRDN catecholaminergic polymorphic ventricular tachycardia UMLS:C3809536|Orphanet:3286|ICD10:I47.2|OMIM:615441|DOID:0060679 owl:Class HGNC:12261 biolink:NamedThing TRDN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15520 biolink:NamedThing LPAR6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004566 biolink:NamedThing beta-glucuronidase activity Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate. tmpte7i6ely_mondo_relaxed.owl ketodase activity|beta-D-glucuronoside glucuronosohydrolase activity|exo-beta-D-glucuronidase activity|beta-glucuronide glucuronohydrolase activity|glucuronidase activity owl:Class MONDO:0014167 biolink:NamedThing epilepsy, familial adult myoclonic, 5 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, familial adult myoclonic caused by mutation in CNTN2|cortical myoclonic tremor with epilepsy, familial, 5|epilepsy, familial ADULT myoclonic, 5|epilepsy, familial adult myoclonic, 5|epilepsy, familial adult myoclonic, type 5|FAME5|CNTN2 epilepsy, familial adult myoclonic DOID:0111691|OMIM:615400|Orphanet:86814|UMLS:C3809374 owl:Class UBERON:0005908 biolink:NamedThing conjunctival sac tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010680 biolink:NamedThing pedal digit 1 phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23505 biolink:NamedThing BMS1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006267 biolink:NamedThing notochordal plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006268 biolink:NamedThing notochordal process tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005903 biolink:NamedThing pericardial tuberculosis Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. tmpte7i6ely_mondo_relaxed.owl tuberculous pericarditis ICD9:017.90|EFO:0007426|SCTID:67256000|ICD10:A18.84|DOID:4962|UMLS:C0031049|MESH:D010495 owl:Class MONDO:0019511 biolink:NamedThing autosomal dominant medullary cystic kidney disease with hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. tmpte7i6ely_mondo_relaxed.owl UMOD-related ADTKD|ADTKD-UMOD|autosomal dominant medullary cystic kidney disease with hyperuricemia|UMOD-related autosomal dominant tubulointerstitial kidney disease|ADMCKD2|autosomal dominant medullary cystic kidney disease type 2|autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD 2022-05-01 GARD:0010679|Orphanet:88950|ICD10:Q61.5|UMLS:CN206322 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class HGNC:12559 biolink:NamedThing UMOD tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26022 biolink:NamedThing TRMT10C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013015 biolink:NamedThing Brugada syndrome 5 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene. tmpte7i6ely_mondo_relaxed.owl SCN1B Brugada syndrome|Brugada syndrome type 5|BRGDA5|Brugada syndrome 5|Brugada syndrome caused by mutation in SCN1B|Cardiac conduction defect, nonspecific ICD10:I49.8|UMLS:C2748541|DOID:0110222|Orphanet:130|OMIM:612838|Orphanet:871 owl:Class HGNC:10586 biolink:NamedThing SCN1B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003261 biolink:NamedThing thyroid primordium endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18801 biolink:NamedThing POGZ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001817 biolink:NamedThing acute closed-angle glaucoma Acute form of angle-closure glaucoma. tmpte7i6ely_mondo_relaxed.owl acute angle-closure glaucoma|angle-closure glaucoma, acute DOID:13862|ICD9:365.22|UMLS:C0154946|SCTID:30041005|ICD10:H40.21 owl:Class MONDO:0015018 biolink:NamedThing ichthyosis, congenital, autosomal recessive 12 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene. tmpte7i6ely_mondo_relaxed.owl ARCI12|ichthyosis, congenital, autosomal recessive type 12|ichthyosis, congenital, autosomal recessive 12; ARCI12|ichthyosis, congenital, autosomal recessive 12 UMLS:C4310621|OMIM:617320 owl:Class UBERON:0000092 biolink:NamedThing post-embryonic stage stage succeeding embryo, including mature structure tmpte7i6ely_mondo_relaxed.owl post-hatching stage|postembryonic|postembryonic stage owl:Class GO:0009791 biolink:NamedThing post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010427 biolink:NamedThing ciliary processes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019630 biolink:NamedThing congenital ectropion uveae Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl ICD10:Q10.1|Orphanet:91491 owl:Class MONDO:0012941 biolink:NamedThing inflammatory bowel disease 25 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. tmpte7i6ely_mondo_relaxed.owl IBD25|inflammatory bowel disease type 25|IL10RB inflammatory bowel disease|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease caused by mutation in IL10RB|inflammatory bowel disease 25, autosomal recessive|early onset autosomal recessive inflammatory bowel disease 25 DOID:0110909|MESH:C567251|Orphanet:238569|UMLS:C2675508|OMIM:612567 owl:Class HGNC:5965 biolink:NamedThing IL10RB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013032 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 8 Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene. tmpte7i6ely_mondo_relaxed.owl EIG8|susceptibility to idiopathic generalized epilepsy 8|generalised epilepsy caused by mutation in CASR|CASR generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, 8|epilepsy, idiopathic generalized, susceptibility to, type 8 OMIM:612899|DOID:0111322 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0013423 biolink:NamedThing immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. tmpte7i6ely_mondo_relaxed.owl lectin complement activation pathway, defect in, 2|MASP2 deficiency|immunodeficiency due to MASP-2 deficiency UMLS:C3151085|OMIM:613791|Orphanet:331187|ICD10:D84.1|MESH:C565360 owl:Class OBO:CHR_9606-chr4q biolink:NamedThing 4q (Human) tmpte7i6ely_mondo_relaxed.owl 190214555 50000000 hg38 owl:Class MONDO:0009929 biolink:NamedThing neonatal acute respiratory distress due to SP-B deficiency tmpte7i6ely_mondo_relaxed.owl interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1|pulmonary surfactant protein B, deficiency of|neonatal acute respiratory distress due to surfactant protein B deficiency|surfactant metabolism dysfunction, pulmonary, type 1|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant Protein B deficiency|SMDP1 MESH:C566882|Orphanet:217563|UMLS:C1968602|OMIM:265120|ICD10:P28.0|GARD:0004595|Orphanet:264675 owl:Class HGNC:10801 biolink:NamedThing SFTPB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010338 biolink:NamedThing 1st arch maxillary mesenchyme from head mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005847 biolink:NamedThing middle lobe syndrome Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl UMLS:C0026069|DOID:2810|EFO:0007367|MESH:D008878|SCTID:28295001 owl:Class HGNC:5433 biolink:NamedThing IFNAR2 tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000964 biolink:NamedThing transparent A optical quality inhering in a bearer by virtue of the bearer's lacking opacity. tmpte7i6ely_mondo_relaxed.owl hyaline|clear owl:Class CL:0010007 biolink:NamedThing His-Purkinje system cell tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004146 biolink:NamedThing His-Purkinje system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017746 biolink:NamedThing atypical Rett syndrome Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT). tmpte7i6ely_mondo_relaxed.owl atypical RTT|Rett syndrome variant|Rett like syndrome SCTID:718393002|UMLS:C2748910|OMIM:312750|ICD10:F84.2|GARD:0004694|Orphanet:3095|OMIM:613454|OMIM:300672 owl:Class MONDO:0010108 biolink:NamedThing testicular germ cell tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl endodermal sinus tumor|testicular germ cell cancer|germ cell tumor of testis|germ cell neoplasm of testis|Male germ cell tumor|germ cell neoplasm of the testis|testis germ cell tumor|seminoma|embryonal cell carcinoma|testicular germ cell neoplasms|teratoma, testicular|germ cell tumor of the testis|nonseminomatous germ cell tumors|testicular germ cell neoplasm|spermatocytic seminoma|testicular germ cell tumor|TGCT Orphanet:842|ICD9:239.5|EFO:1000566|UMLS:C0014145|OMIM:273300|Orphanet:363494|DOID:5557|SCTID:713577007|NCIT:C8591|MESH:C563236|Orphanet:363483|GARD:0013047|Orphanet:363504|Orphanet:876|UMLS:C0334517|ICD10:C62.1|Orphanet:99865|UMLS:C1336708|OMIM:300228 owl:Class HGNC:4689 biolink:NamedThing GUCY2D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009303 biolink:NamedThing anti-glomerular basement membrane disease An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. tmpte7i6ely_mondo_relaxed.owl anti-glomerular basement membrane disease|Goodpasture syndrome|pulmonary renal syndrome|rapidly progressive glomerulonephritis with pulmonary hemorrhage|anti-GBM syndrome|anti-glomerular basement membrane antibody disease|glomerulonephritis - pulmonary hemorrhage MESH:D019867|ICD10:M31.0|GARD:0002551|ICD10:M31.0+|DOID:9808|ICD10:N08.5*|MedDRA:10018620|UMLS:C0403529|OMIM:233450|SCTID:236432001|EFO:0007290|Orphanet:375|NCIT:C84566|ICD9:446.21 https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome owl:Class MONDO:0044641 biolink:NamedThing 9q33.3q34.11 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl monosomy 9q33.3-q34.11|9q33.3-q34.11 microdeletion syndrome|Del(9)(q33.3q34.11)|deletion 9q33.3q34.11|monosomy 9q33.3q34.11 Orphanet:495818 owl:Class OBO:CHR_9606-chr9q33.3-q34.11 biolink:NamedThing 9q33.3-q34.11 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class UBERON:0014477 biolink:NamedThing thoracic skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013535 biolink:NamedThing hydroxyacyl glutathione hydrolase deficiency tmpte7i6ely_mondo_relaxed.owl hydroxyacyl glutathione hydrolase deficiency|glyoxalase 2 deficiency UMLS:C3279657|OMIM:614033|MESH:C564215 owl:Class CHEBI:33284 biolink:NamedThing nutrient A nutrient is a food component that an organism uses to survive and grow. tmpte7i6ely_mondo_relaxed.owl nutrients owl:Class UBERON:0001800 biolink:NamedThing sensory ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001027 biolink:NamedThing sensory nerve tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q12.1-q21.2 biolink:NamedThing 8q12.1-q21.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0016089 biolink:NamedThing infantile Krabbe disease tmpte7i6ely_mondo_relaxed.owl Krabbe disease, early-onset|Krabbe disease, classic form SCTID:238030005|Orphanet:206436|ICD10:E75.2 owl:Class GO:0016525 biolink:NamedThing negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. tmpte7i6ely_mondo_relaxed.owl down-regulation of angiogenesis|inhibition of angiogenesis|down regulation of angiogenesis|downregulation of angiogenesis owl:Class GO:0048770 biolink:NamedThing pigment granule A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001251 biolink:NamedThing chronic apical periodontitis Chronic form of periapical periodontitis. tmpte7i6ely_mondo_relaxed.owl chronic periapical periodontitis|periapical periodontitis, chronic ICD10:K04.5|SCTID:718052004|UMLS:C0392492|ICD9:522.6|DOID:11269 owl:Class HsapDv:0000132 biolink:NamedThing 38-year-old human stage Adult stage that refers to an adult who is over 38 and under 39. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11142 biolink:NamedThing SIK1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:04000010 biolink:NamedThing soil surface layer A surface layer which is composed primarily of soil. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005357 biolink:NamedThing brain ependyma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013784 biolink:NamedThing lethal neonatal spasticity-epileptic encephalopathy syndrome tmpte7i6ely_mondo_relaxed.owl RMFSL|rigidity and multifocal seizure syndrome, lethal neonatal|lethal neonatal rigidity-multifocal seizure syndrome|lethal neonatal spasticity-epileptic encephalopathy syndrome ICD10:G40.4|Orphanet:435845|EFO:0009144|OMIM:614498|UMLS:C3281029 owl:Class MONDO:0013076 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl attention deficit-hyperactivity disorder, susceptibility to, 7|Adhd7|attention Deficit-hyperactivity disorder, susceptibility to, type 7|susceptibility to attention deficit-hyperactivity disorder 7 OMIM:613003 owl:Class HGNC:20692 biolink:NamedThing TPH2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6945 biolink:NamedThing Ixodes scapularis tmpte7i6ely_mondo_relaxed.owl deer tick|blacklegged tick|Ixodes dammini|shoulder tick|black-legged tick GC_ID:1 NCBITaxon:29929|NCBITaxon:2528633 ncbi_taxonomy owl:Class MONDO:0006195 biolink:NamedThing endometrial polyp A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported. tmpte7i6ely_mondo_relaxed.owl polyp, endometrial stromal, benign|polyp of the endometrium|endometrium polyp|polyp of endometrium|endometrial stromal polyp|endometrial polyp EFO:1000237|NCIT:C6433 owl:Class UBERON:0006242 biolink:NamedThing gall bladder primordium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:404 biolink:NamedThing ALDH2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007151 biolink:NamedThing mitral valve leaflet tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037747 biolink:NamedThing spinal injury A injury that involves the vertebral column. tmpte7i6ely_mondo_relaxed.owl injury of vertebral column|vertebral column injury SCTID:262521009|MESH:D013124 owl:Class OBO:CHR_9606-chr16p13.3 biolink:NamedThing 16p13.3 (Human) tmpte7i6ely_mondo_relaxed.owl 7800000 0 hg38 owl:Class OBO:CHR_9606-chr16p13 biolink:NamedThing 16p13 (Human) tmpte7i6ely_mondo_relaxed.owl 16700000 0 hg38 owl:Class CL:0007003 biolink:NamedThing preodontoblast Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell. tmpte7i6ely_mondo_relaxed.owl haendel 2012-06-15T05:15:11Z cell owl:Class MONDO:0100211 biolink:NamedThing growth hormone insensitivity with immune dysregulation 1, autosomal recessive tmpte7i6ely_mondo_relaxed.owl Laron-like syndrome|Laron syndrome due to postreceptor defect|growth hormone insensitivity with immunodeficiency|growth hormone insensitivity due to postreceptor defect|Laron syndrome with immunodeficiency|short stature due to STAT5b deficiency Orphanet:220465|UMLS:C4510411|UMLS:C1855548|MESH:C537871|ICD10:D82.8|SCTID:724179008|OMIM:245590|ICD10:E34.3 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:11367 biolink:NamedThing STAT5B tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009006 biolink:NamedThing enteroendocrine cell of small intestine An enteroendocrine cell that is located in the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestine enteroendocrine cell owl:Class ENVO:01000319 biolink:NamedThing rocky slope A rocky slope is a slope which has a surface primarily composed of rock. tmpte7i6ely_mondo_relaxed.owl owl:Class N4bcb4434584e4c88aeff5a3e5a6c10c8 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002833 biolink:NamedThing fallopian tube transitional cell carcinoma A rare transitional cell carcinoma that arises from the fallopian tube. tmpte7i6ely_mondo_relaxed.owl fallopian tube transitional cell carcinoma|fallopian tube transitional cell cancer DOID:4008|UMLS:C1517128|NCIT:C40104 owl:Class MONDO:0018006 biolink:NamedThing adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. tmpte7i6ely_mondo_relaxed.owl UMLS:CN204218|Orphanet:329478|ICD10:G71.0 owl:Class OBO:CHR_9606-chr16p12 biolink:NamedThing 16p12 (Human) tmpte7i6ely_mondo_relaxed.owl 28500000 16700000 hg38 owl:Class NCBITaxon:12939 biolink:NamedThing Anemia tmpte7i6ely_mondo_relaxed.owl Anemia, the fern with tired blood|Mohria GC_ID:1 NCBITaxon:148571 ncbi_taxonomy owl:Class UBERON:0004348 biolink:NamedThing optic eminence tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011529 biolink:NamedThing spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, autosomal dominant with intellectual disability|cerebellar ataxia, autosomal dominant with mental retardation|spinocerebellar ataxia 13|spinocerebellar ataxia type 13|autosomal dominant cerebellar ataxia with intellectual disability|SCA13|autosomal dominant cerebellar ataxia with mental retardation UMLS:C1854488|OMIM:605259|MESH:C537195|UMLS:C4304884|Orphanet:98768|ICD10:G11.2|DOID:0050963|GARD:0009611|SCTID:719209002 owl:Class MONDO:0006004 biolink:NamedThing vasomotor rhinitis Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. tmpte7i6ely_mondo_relaxed.owl ICD10:J30.0|DOID:4730|NCIT:C34988|UMLS:C0035460|MESH:D012223|SCTID:8229003|EFO:0007533 owl:Class GO:0043229 biolink:NamedThing intracellular organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2183 biolink:NamedThing VPS13B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001686 biolink:NamedThing auditory ossicle bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014773 biolink:NamedThing cardiac anomalies - developmental delay - facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability and distinctive FACIAL features with or without CARDIAC defects|mental retardation and distinctive Facial features with or without Cardiac defects|cardiac anomalies - developmental delay - facial dysmorphism syndrome|MED13L haploinsufficiency syndrome|mental retardation and distinctive FACIAL features with or without CARDIAC defects|intellectual disability and distinctive Facial features with or without Cardiac defects|MRFACD|intellectual disability and distinctive facial features with or without cardiac defects|MED13L syndrome HGNC:22962|UMLS:C4225208|ICD10:Q87.8|OMIM:616789|GARD:0012999|Orphanet:369891 owl:Class HGNC:22962 biolink:NamedThing MED13L tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5464 biolink:NamedThing IGF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004658 biolink:NamedThing breast carcinoma in situ A in situ carcinoma that involves the breast. tmpte7i6ely_mondo_relaxed.owl carcinoma in situ of the breast|breast cancer in situ|stage 0 breast cancer aJCC v6|carcinoma in situ of breast|stage 0 breast carcinoma in situ|stage 0 breast cancer|stage 0 breast cancer aJCC v7|breast in situ carcinoma|non-infiltrating carcinoma of the breast|stage 0 carcinoma of the breast|non-infiltrating breast carcinoma|non-invasive breast carcinoma|stage 0 breast carcinoma|stage 0 breast cancer aJCC v6 and v7|non-infiltrating carcinoma of breast|breast cancer stage 0|in situ breast cancer|non-invasive carcinoma of the breast|stage 0 carcinoma of breast|non-invasive carcinoma of breast|breast carcinoma in situ SCTID:189336000|ICD10:D05|DOID:8791|ICD9:233.0|ICD10:D05.9|NCIT:C3641|UMLS:C0154084 owl:Class MONDO:0013554 biolink:NamedThing psoriasis 13, susceptibility to Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. tmpte7i6ely_mondo_relaxed.owl psoriasis caused by mutation in TRAF3IP2|susceptibility to psoriasis 13|psoriasis 13, susceptibility to|TRAF3IP2 psoriasis|PSORS13 OMIM:614070|DOID:0111287 owl:Class MONDO:0012200 biolink:NamedThing posterior polymorphous corneal dystrophy 3 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, POSTERIOR polymorphous, 3|Ppcd3|ZEB1 posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy type 3|corneal dystrophy, posterior polymorphous, type 3|PPCD3|posterior polymorphous corneal dystrophy caused by mutation in ZEB1 OMIM:609141|DOID:0110857|Orphanet:98973|ICD10:H18.50|UMLS:C1836724|MESH:C563788 owl:Class HGNC:11642 biolink:NamedThing ZEB1 tmpte7i6ely_mondo_relaxed.owl owl:Class Nc55f45a433224e74b37d5efc721c37ea biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014066 biolink:NamedThing mitochondrial complex III deficiency nuclear type 5 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene. tmpte7i6ely_mondo_relaxed.owl UQCRC2 mitochondrial complex III deficiency|MC3DN5|mitochondrial Complex 3 deficiency, nuclear type 5|mitochondrial complex III deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2 UMLS:C3554608|Orphanet:1460|OMIM:615160|DOID:0080114 owl:Class HGNC:12586 biolink:NamedThing UQCRC2 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000303 biolink:NamedThing endolithic environment An endolithic environment is an environment that exists within solid rock. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015730 biolink:NamedThing mosaic trisomy 17 Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. tmpte7i6ely_mondo_relaxed.owl trisomy 17|chromosome 17 trisomy|chromosome 17 duplication|chromosome 17, trisomy mosaicism|Mosaic trisomy type 17|chromosome 17, trisomy|Mosaic trisomy chromosome 17|trisomy 17 mosaicism SCTID:764622004|UMLS:C1096168|ICD10:Q92.1|GARD:0005317|MESH:C538044|Orphanet:1711|NCIT:C37865 owl:Class UBERON:0005725 biolink:NamedThing olfactory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044988 biolink:NamedThing hip region disorder A disease or disorder that involves the hip. tmpte7i6ely_mondo_relaxed.owl hip disease or disorder|disorder of hip region|disease or disorder of hip|hip disease|disorder of hip|disease of hip 2022-04-01 SCTID:118935006|UMLS:C1290862 Reason: grouping class. Term to consider: none owl:Class GO:0005587 biolink:NamedThing collagen type IV trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1247 biolink:NamedThing C1S tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007285 biolink:NamedThing cataract 1 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene. tmpte7i6ely_mondo_relaxed.owl CZP1|CTRCT1|CAE1|GJA8 cataract (disease)|cataract 1, multiple types, with or without microcornea|Duffy linked cataract|cataract 1, multiple types|cataract (disease) caused by mutation in GJA8|cataract, zonular pulverulent, 1|zonular pulverulent cataract 1|cataract, Duffy-linked Orphanet:98984|Orphanet:1377|UMLS:C1861828|MESH:C566158|OMIM:116200|DOID:0110231|Orphanet:91492|ICD10:Q12.0 owl:Class HGNC:4281 biolink:NamedThing GJA8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010778 biolink:NamedThing cyclic vomiting syndrome A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. tmpte7i6ely_mondo_relaxed.owl CVS|cyclic vomiting syndrome-plus|Cvs-plus|cyclic vomiting syndrome|cyclic vomiting syndrome with neuromuscular disease GARD:0006230|OMIM:500007 owl:Class HP:0002017 biolink:NamedThing Nausea and vomiting Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. tmpte7i6ely_mondo_relaxed.owl Nausea and vomiting UMLS:C0027498|SNOMEDCT_US:16932000 human_phenotype owl:Class MONDO:0007222 biolink:NamedThing brachydactyly type D A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1. tmpte7i6ely_mondo_relaxed.owl brachydactyly, type D|BDD|stub thumb MESH:C562420|OMIM:113200|Orphanet:93385|DOID:0110971 Editor note: OMIM xrefs Orphanet ID that does not appear to exist owl:Class MONDO:0014807 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 2 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene. tmpte7i6ely_mondo_relaxed.owl prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1|SMABF2|spinal muscular atrophy with congenital bone fractures 2|ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures|spinal muscular atrophy with congenital bone fractures type 2 OMIM:616867|UMLS:C4225176 owl:Class HGNC:24268 biolink:NamedThing ASCC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007005 biolink:NamedThing cardiogenic splanchnic mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009881 biolink:NamedThing anterior lateral plate mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009678 biolink:NamedThing tooth row tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002444 biolink:NamedThing mineralized A composition quality inhering in a bearer by virtue of the bearer's being composed of or possessing inorganic material. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410000 biolink:NamedThing duodeno-jejunal junction tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013589 biolink:NamedThing focal segmental glomerulosclerosis 6 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. tmpte7i6ely_mondo_relaxed.owl focal segmental glomerulosclerosis type 6|FSGS6|focal segmental glomerulosclerosis 6|MYO1E focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in MYO1E|glomerulosclerosis, focal segmental, 6 OMIM:614131|DOID:0111131|ICD10:N04.1|UMLS:C3279905|Orphanet:656 owl:Class HGNC:7599 biolink:NamedThing MYO1E tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010431 biolink:NamedThing Joubert syndrome 10 Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome type 10|Joubert syndrome caused by mutation in OFD1|Joubert syndrome 10|OFD1 Joubert syndrome|JBTS10 Orphanet:2754|DOID:0110981|OMIM:300804|UMLS:C2749019|MESH:C567582 owl:Class HGNC:2567 biolink:NamedThing OFD1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8616 biolink:NamedThing PAX2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004273 biolink:NamedThing cartilaginous joint suture tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1787 biolink:NamedThing CDKN2A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14388 biolink:NamedThing GP6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011925 biolink:NamedThing congenital merosin-deficient muscular dystrophy 1A Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, merosin-deficient|muscular dystrophy, congenital merosin-deficient|muscular dystrophy, congenital, due to partial LAMA2 deficiency|congenital merosin-deficient muscular dystrophy type 1A|congenital muscular dystrophy due to laminin alpha2 deficiency|muscular dystrophy, congenital merosin-deficient, 1A|LAMA2-related muscular dystrophy|MDC1A|CMD1A|merosin-deficient congenital muscular dystrophy type 1A|merosin-negative congenital muscular dystrophy|LAMA2 congenital muscular dystrophy|muscular dystrophy, congenital merosin-deficient, type 1A|congenital muscular dystrophy type 1A|merosin-deficient congenital muscular dystrophy|congenital muscular dystrophy caused by mutation in LAMA2|laminin alpha-2 deficiency ICD10:G71.2|OMIM:607855|EFO:0009138|DOID:0110636|UMLS:C1263858|GARD:0003843|Orphanet:258|NCIT:C118783|SCTID:111503008 owl:Class HGNC:6482 biolink:NamedThing LAMA2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6773 biolink:NamedThing SMAD7 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1980459 biolink:NamedThing Bayou orthohantavirus tmpte7i6ely_mondo_relaxed.owl Bayou virus|Bayou hantavirus GC_ID:1 NCBITaxon:37962 ncbi_taxonomy owl:Class CL:0000171 biolink:NamedThing pancreatic A cell A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon. tmpte7i6ely_mondo_relaxed.owl alpha cell of islet of Langerhans|pancreatic alpha cell BTO:0000990|FMA:70585 cell owl:Class HGNC:4393 biolink:NamedThing GNAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034978 biolink:NamedThing paraganglion (generic) tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p12.1-p12.3 biolink:NamedThing 16p12.1-p12.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0011091 biolink:NamedThing Charcot-Marie-Tooth disease type 2D Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. tmpte7i6ely_mondo_relaxed.owl GARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2D|Charcot Marie Tooth disease type 2D|Charcot-Marie-Tooth disease, axonal, type 2D|CMT2D|autosomal dominant Charcot-Marie-Tooth disease type 2D|CMT 2D|Charcot-Marie-Tooth disease neuronal type 2D|Charcot-Marie-Tooth neuropathy, type 2D|Charcot-Marie-Tooth disease, neuronal, type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS UMLS:C4274109|ICD10:G60.0|DOID:0110164|GARD:0001251|Orphanet:99938|UMLS:C1832274|NCIT:C122659|MESH:C537993|SCTID:717011006|OMIM:601472 https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d owl:Class UBERON:0034929 biolink:NamedThing external soft tissue zone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002004 biolink:NamedThing atheroembolism of kidney A cholesterol embolism that involves the kidney. tmpte7i6ely_mondo_relaxed.owl cholesterol embolism of kidney|kidney cholesterol embolism ICD10:I75.81|DOID:1460 owl:Class OBO:CHR_9606-chr20q13.33 biolink:NamedThing 20q13.33 (Human) tmpte7i6ely_mondo_relaxed.owl 64444167 59700000 hg38 owl:Class HGNC:30611 biolink:NamedThing STT3B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014794 biolink:NamedThing Meier-Gorlin syndrome 6 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene. tmpte7i6ely_mondo_relaxed.owl Meier-Gorlin syndrome 6|GMNN Meier-Gorlin syndrome|Meier-GORLIN syndrome 6|Meier-Gorlin syndrome type 6|Meier-Gorlin syndrome caused by mutation in GMNN|MGORS6 UMLS:C4225188|OMIM:616835|DOID:0080517 owl:Class HGNC:17493 biolink:NamedThing GMNN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3801 biolink:NamedThing FOXC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012540 biolink:NamedThing age related macular degeneration 4 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. tmpte7i6ely_mondo_relaxed.owl macular Degeneration, age-related, type 4|CFH age-related macular degeneration|macular degeneration, age-related, 4|age related macular degeneration type 4|age-related macular degeneration caused by mutation in CFH|ARMD4 OMIM:610698|MESH:C565196|DOID:0110017|UMLS:C1853147 owl:Class HGNC:4883 biolink:NamedThing CFH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010378 biolink:NamedThing X-linked hereditary sensory and autonomic neuropathy with hearing loss This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. tmpte7i6ely_mondo_relaxed.owl X-linked HSAN with deafness|deafness, X-linked 5|X-linked auditory neuropathy with peripheral sensory neuropathy type 1|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy|X-linked hereditary sensory and autonomic neuropathy with deafness|DFNX5 Orphanet:139583|UMLS:C4304400|UMLS:C1845095|GARD:0012731|MESH:C564472|SCTID:719838008|OMIM:300614|ICD10:G60.8 https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness owl:Class HGNC:8768 biolink:NamedThing AIFM1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009883 biolink:NamedThing medullary ray tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013549 biolink:NamedThing N-acetylaspartate deficiency tmpte7i6ely_mondo_relaxed.owl N-acetylaspartate deficiency|naa deficiency|hypoacetylaspartia|NACED UMLS:C3279716|OMIM:614063 owl:Class HGNC:26742 biolink:NamedThing NAT8L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011146 biolink:NamedThing tetrasomy 12p Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. tmpte7i6ely_mondo_relaxed.owl Pallister Killian syndrome|tetrasomy 12P, Mosaic|Pallister-Killian mosaic syndrome|Killian syndrome|Isochromosome 12p mosaicism|Isochromosome 12p syndrome|Hexasomy 12P, Mosaic|tetrasomy type 12p|PKS|Pallister mosaic syndrome|Pallister-Killian syndrome|chromosome 12, Isochromosome 12p syndrome|Killian Teschler-Nicola syndrome|Isochromosome 12P syndrome|Teschler-Nicola Killian syndrome ICD10:Q99.8|Orphanet:884|UMLS:C0265449|ICD9:758.81|MESH:C538105|NCIT:C75458|SCTID:9527009|OMIM:601803|GARD:0008421 owl:Class CHEBI:25213 biolink:NamedThing metal cation tmpte7i6ely_mondo_relaxed.owl a metal cation|metal cations owl:Class UBERON:0015228 biolink:NamedThing circulatory organ tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008480 biolink:NamedThing sarcosine dehydrogenase activity Catalysis of the reaction: sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein. tmpte7i6ely_mondo_relaxed.owl sarcosine:(acceptor) oxidoreductase (demethylating)|sarcosine N-demethylase activity|monomethylglycine dehydrogenase activity|sarcosine:acceptor oxidoreductase (demethylating) owl:Class MONDO:0012029 biolink:NamedThing microcephaly 6, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene. tmpte7i6ely_mondo_relaxed.owl MCPH6|CENPJ autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CENPJ|microcephaly 6, primary, autosomal recessive MESH:C564247|DOID:0070290|OMIM:608393|UMLS:C1842109 owl:Class HGNC:17272 biolink:NamedThing CENPJ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034768 biolink:NamedThing morphological feature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014287 biolink:NamedThing short-rib thoracic dysplasia 11 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. tmpte7i6ely_mondo_relaxed.owl SRTD11|short-rib thoracic dysplasia 11 with or without polydactyly DOID:0110095|Orphanet:93271|Orphanet:474|OMIM:615633|UMLS:C3810200|ICD10:Q77.2 owl:Class HGNC:28296 biolink:NamedThing DYNC2I2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034101 biolink:NamedThing erythrocyte homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. tmpte7i6ely_mondo_relaxed.owl red blood cell homeostasis|RBC homeostasis owl:Class ENVO:02000108 biolink:NamedThing cotton dust tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005944 biolink:NamedThing axial skeleton plus cranial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013307 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 2 Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene. tmpte7i6ely_mondo_relaxed.owl MLASA2|YARS2 mitochondrial myopathy and sideroblastic anemia|myopathy, lactic acidosis, and sideroblastic Anemia type 2|myopathy, lactic acidosis, and sideroblastic anemia 2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2 Orphanet:2598|DOID:0111186|OMIM:613561|UMLS:C3150802 owl:Class HGNC:24249 biolink:NamedThing YARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043137 biolink:NamedThing isolated microcephaly tmpte7i6ely_mondo_relaxed.owl nonsyndromic microcephaly|Nonsyndromal microcephaly|microcephaly, non-syndromic MESH:C537542|GARD:0003630 owl:Class MONDO:0011335 biolink:NamedThing spondyloepimetaphyseal dysplasia with multiple dislocations A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with JOINT laxity, type 2|SEMD-MD|spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|SEMDJL2|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type NCIT:C125419|GARD:0009866|DOID:0112199|ICD10:Q77.7|SCTID:766820007|Orphanet:93360|OMIM:603546|UMLS:C1863732|MESH:C535784 https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations owl:Class CHEBI:29340 biolink:NamedThing hydridonitrate(2-) A divalent inorganic anion resulting from the removal of two protons from ammonia. tmpte7i6ely_mondo_relaxed.owl azanediide|NH(2-)|hydridonitrate(2-)|imide owl:Class UBERON:0005330 biolink:NamedThing mesonephric nephron epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005322 biolink:NamedThing mesonephric nephron tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9891 biolink:NamedThing RBBP8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045617 biolink:NamedThing negative regulation of keratinocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation|downregulation of keratinocyte differentiation|down-regulation of keratinocyte differentiation owl:Class UBERON:0003640 biolink:NamedThing pedal digit 1 phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014898 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. tmpte7i6ely_mondo_relaxed.owl TK2 autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal recessive 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|PEOB3|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2 DOID:0111523|OMIM:617069|UMLS:C4310734 owl:Class HGNC:11831 biolink:NamedThing TK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012520 biolink:NamedThing insulin-resistance syndrome type A Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. tmpte7i6ely_mondo_relaxed.owl type A insulin resistance syndrome|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|diabetes mellitus, insulin-resistant, with acanthosis nigricans|Iran, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|insulin-resistant acanthosis nigricans, type A|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism GARD:0003008|OMIM:610549|NCIT:C131836|EFO:1001503|ICD10:E13|Orphanet:2297|MESH:C562710 owl:Class HGNC:6091 biolink:NamedThing INSR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010250 biolink:NamedThing intellectual disability, X-linked 49 tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 49|intellectual disability, X-linked 15|mental retardation, X-linked 15|MRX49|mental retardation, X-linked 49 OMIM:300114 owl:Class HGNC:2022 biolink:NamedThing CLCN4 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001585 biolink:NamedThing appendix glandular cell Glandular cell of appendix epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. tmpte7i6ely_mondo_relaxed.owl appendix glandular cells|caecal appendix glandular cell|vermiform appendix glandular cell|cecal appendix glandular cell CALOHA:TS-1271 owl:Class HGNC:22788 biolink:NamedThing FEZF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018996 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. tmpte7i6ely_mondo_relaxed.owl ataxia-ocular apraxia 2|ataxia-oculomotor apraxia type 2|spinocerebellar ataxia with axonal neuropathy type 2|AOA2|autosomal recessive spinocerebellar ataxia-1|ataxia-oculomotor apraxia 2|SCAR1|SCAN2|SCAN 2|spinocerebellar ataxia, autosomal recessive 1|spinocerebellar ataxia, autosomal recessive type 1|ataxia with oculomotor apraxia type 2 UMLS:C1853761|GARD:0012860|OMIM:606002|DOID:0050755|MESH:C537308|UMLS:CN205441|SCTID:725408001|ICD10:G60.2|Orphanet:64753 See https://github.com/Orphanet/ORDO/issues/11 owl:Class HGNC:445 biolink:NamedThing SETX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015292 biolink:NamedThing endotheliitis An inflammatory disease involving a pathogenic inflammatory response in the endothelium. tmpte7i6ely_mondo_relaxed.owl endothelium inflammation|inflammation of endothelium Orphanet:137602 owl:Class HGNC:1101 biolink:NamedThing BRCA2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004228 biolink:NamedThing urinary bladder smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004413 biolink:NamedThing proximal epiphysis of radius tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11947 biolink:NamedThing TNNI3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004800 biolink:NamedThing chronic dacryoadenitis Chronic form of dacryoadenitis. tmpte7i6ely_mondo_relaxed.owl dacryoadenitis, chronic ICD10:H04.02|SCTID:4760008|DOID:949|ICD9:375.02|UMLS:C0155224 owl:Class MONDO:0045038 biolink:NamedThing cutaneous basidiobolomycosis tmpte7i6ely_mondo_relaxed.owl UMLS:C0343966|SCTID:240786004 owl:Class UBERON:0001308 biolink:NamedThing external iliac artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001191 biolink:NamedThing common iliac artery tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:169952 biolink:NamedThing 13-cis-retinoate tmpte7i6ely_mondo_relaxed.owl 13-cis-retinoate|(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate owl:Class CHEBI:6067 biolink:NamedThing isotretinoin A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases. tmpte7i6ely_mondo_relaxed.owl isotretinoinum|isotretinoina|isotretinoine|(7E,9E,11E,13Z)-retinoic acid|Amnesteem|Accutane|13-cis-retinoic acid|cis-RA|Neovitamin A acid|isotretinoino|(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid|Claravis|isotretinoin|13-cis-Vitamin A acid|13-RA owl:Class MONDO:0011037 biolink:NamedThing renal dysplasia, cystic, susceptibility to tmpte7i6ely_mondo_relaxed.owl renal dysplasia, cystic, susceptibility to|renal dysplasia diffuse cystic|CYSRD|diffuse cystic renal dysplasia GARD:0004658|OMIM:601331|DOID:0111682|MESH:C537755 owl:Class HGNC:19351 biolink:NamedThing BICC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001063 biolink:NamedThing cardia cancer A malignant neoplasm involving the cardia of stomach. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of cardia of stomach|malignant cardia of stomach neoplasm|cancer of cardia of stomach|Ca cardia - stomach|cardia of stomach cancer DOID:10548|ICD9:151.0|ICD10:C16.0|UMLS:C0153417|SCTID:187732006 owl:Class UBERON:0001361 biolink:NamedThing femoral vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005405 biolink:NamedThing childhood onset asthma Asthma that starts in childhood. tmpte7i6ely_mondo_relaxed.owl pediatric asthma|childhood asthma|asthma of childhood EFO:0004591|UMLS:C0264408|SCTID:233678006 owl:Class OBO:CHR_9606-chr13q3 biolink:NamedThing 13q3 (Human) tmpte7i6ely_mondo_relaxed.owl 114364328 78500000 hg38 owl:Class UBERON:0002808 biolink:NamedThing left temporal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000554 biolink:NamedThing hydrocarbon gas A gas that is primarily composed of hydrocarbon molecules. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001547 biolink:NamedThing quality of a gas A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. tmpte7i6ely_mondo_relaxed.owl gaseous owl:Class HGNC:3530 biolink:NamedThing F12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012128 biolink:NamedThing dextro-looped transposition of the great arteries 1 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. tmpte7i6ely_mondo_relaxed.owl MED13L dextro-looped transposition of the great arteries|dextro-looped transposition of the great arteries type 1|D-TGA|DTGA1|transposition of the great arteries, dextro-looped 1|transposition of the great arteries, dextro-looped type 1|dextro-looped transposition of the great arteries caused by mutation in MED13L Orphanet:860|GARD:0007795|DOID:0060771|MESH:C563853|UMLS:C1837341|ICD10:Q20.3|OMIM:608808 owl:Class MONDO:0017215 biolink:NamedThing calciphylaxis Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. tmpte7i6ely_mondo_relaxed.owl idiopathic calciphylaxis GARD:0005980|ICD10:E83.5|DOID:4734|UMLS:C0006666|ICD9:275.49|MedDRA:10051714|SCTID:237900002|Orphanet:280062|NCIT:C84607|MESH:D002115 https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis owl:Class MONDO:0012682 biolink:NamedThing immunodeficiency 35 Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene. tmpte7i6ely_mondo_relaxed.owl TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive|TYK2 deficiency|tyrosine kinase 2 deficiency|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency|immunodeficiency type 35|IMD35|susceptibility to infection due to TYK2 deficiency|immunodeficiency 35|HIES with atypical Mycobacteriosis, autosomal recessive OMIM:611521|Orphanet:331226|MESH:C566928|UMLS:C1969086|ICD10:D82.4 OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE. owl:Class HGNC:12440 biolink:NamedThing TYK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020082 biolink:NamedThing dendritic cell tumor A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy. tmpte7i6ely_mondo_relaxed.owl Dendritic cell tumor, NOS|Dendritic cell sarcoma, NOS|Dendritic cell tumor, Not otherwise specified|Dendritic cell neoplasm|Dendritic cell sarcoma, Not otherwise specified Orphanet:98289|GARD:0008317|SCTID:737223000|UMLS:C1260325|ICD10:C96.4|NCIT:C27260|UMLS:CN206984 https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor owl:Class HGNC:16876 biolink:NamedThing ARNT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002967 biolink:NamedThing dermatophytosis of scalp or beard Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. tmpte7i6ely_mondo_relaxed.owl Trichophyton rubrum tinea capitis|dermatophytosis of scalp and beard|scalp dermatophytosis|scalp ringworm|dermatophytosis of scalp|tinea capitis|tinea capitis due to Trichophyton rubrum DOID:4337|SCTID:266148000|UMLS:C1274426|UMLS:C0011640|ICD9:110.0|NCIT:C34536 owl:Class GO:0042754 biolink:NamedThing negative regulation of circadian rhythm Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. tmpte7i6ely_mondo_relaxed.owl down regulation of circadian rhythm|inhibition of circadian rhythm|down-regulation of circadian rhythm|downregulation of circadian rhythm owl:Class UBERON:0000026 biolink:NamedThing appendage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011803 biolink:NamedThing hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. tmpte7i6ely_mondo_relaxed.owl SPG7 hereditary spastic paraplegia|SPG7|hereditary spastic paraplegia caused by mutation in SPG7|spastic paraplegia type 7|spastic paraplegia 7, autosomal recessive|autosomal recessive spastic paraplegia 7|hereditary spastic paraplegia type 7|spastic paraplegia 7|hereditary spastic paraplegia paraplegin type|hereditary spastic paraplegia 7 ICD10:G11.4|GARD:0004927|UMLS:C1846564|Orphanet:99013|OMIM:607259|DOID:0110816|MESH:C564599|SCTID:715776003|UMLS:C3711370 owl:Class HGNC:11237 biolink:NamedThing SPG7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013962 biolink:NamedThing hereditary spastic paraplegia 53 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia type 53|VPS37A autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia 53|autosomal recessive spastic paraplegia type 53|autosomal recessive spastic paraplegia 53|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A|SPG53|spastic paraplegia 53, autosomal recessive DOID:0110805|SCTID:723823004|UMLS:C4510082|ICD10:G11.4|UMLS:C3539494|OMIM:614898|Orphanet:319199 owl:Class HGNC:24928 biolink:NamedThing VPS37A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044817 biolink:NamedThing acquired idiopathic torsion dystonia An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired idiopathic torsion dystonia|idiopathic non-familial dystonia|non-Familial Idiopathic dystonia NCIT:C35438|SCTID:230321007 owl:Class UBERON:0004204 biolink:NamedThing outer medullary collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001896 biolink:NamedThing medulla oblongata tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100344 biolink:NamedThing Bartter disease type 1 tmpte7i6ely_mondo_relaxed.owl Bartter disease type 1|BARTS1|SLC12A1 Bartter syndrome|Bartter syndrome type 1 antenatal|hyperprostaglandin E syndrome 1|Bartter syndrome antenatal type 1|Bartter syndrome type 1|antenatal Bartter syndrome|hyperprostaglandin E syndrome|antenatal Bartter syndrome type 1|Bartter syndrome, type 1, antenatal|Bartter syndrome, furosemide-amiloride type|hypokalemic alkalosis with hypercalciuria antenatal 1|Bartter syndrome, furosemide type|hypokalemic alkalosis with hypercalciuria 1 antenatal|Bartter syndrome, antenatal, type 1|hypokalemic alkalosis with hypercalciuria, antenatal, 1|Bartter syndrome caused by mutation in SLC12A1|hypokalemic alkalosis with hypercalciuria 1, antenatal Orphanet:93604|Orphanet:112|OMIM:241200|GARD:0000830|ICD10:E26.8|SCTID:700107006|MESH:C537652|OMIM:300971|OMIM:601678|DOID:0110142 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:10910 biolink:NamedThing SLC12A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005913 biolink:NamedThing phlebotomus fever Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. tmpte7i6ely_mondo_relaxed.owl Sandfly fever|Sandfly-borne arboviral fever|pappataci fever|Sandfly-borne Bunyavirus fever|Sandfly-borne phleboviral disease MESH:D010217|SCTID:407476002|ICD10:A93.1|UMLS:C0030372|EFO:0007437|DOID:11360|ICD9:066.0 owl:Class NCBITaxon:29031 biolink:NamedThing Phlebotomus papatasi tmpte7i6ely_mondo_relaxed.owl Phlebotomus (Phlebotomus) papatasi|Phlebotomus papatasii GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010455 biolink:NamedThing X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. tmpte7i6ely_mondo_relaxed.owl XMEN|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia|Cid due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia|combined immunodeficiency due to MAGT1 deficiency Orphanet:317476|UMLS:C3275445|OMIM:300853|GARD:0010907|DOID:0080319|SCTID:711481001|ICD10:D81.8 owl:Class HGNC:28880 biolink:NamedThing MAGT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2033 biolink:NamedThing CLDN10 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022618 biolink:NamedThing ribonucleoprotein complex assembly The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. tmpte7i6ely_mondo_relaxed.owl protein-RNA complex assembly|RNP complex assembly|RNA-protein complex assembly owl:Class GO:0022613 biolink:NamedThing ribonucleoprotein complex biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. tmpte7i6ely_mondo_relaxed.owl ribonucleoprotein complex biogenesis and assembly|RNA-protein complex biogenesis owl:Class GO:0007507 biolink:NamedThing heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpte7i6ely_mondo_relaxed.owl dorsal vessel development|cardiac development owl:Class MONDO:0044778 biolink:NamedThing nodular lymphocyte predominant Hodgkin lymphoma A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008) tmpte7i6ely_mondo_relaxed.owl nodular lymphocyte predominant Hodgkin lymphoma|nodular lymphocyte predominant Hodgkin's lymphoma|NLPHL|Hodgkin lymphoma nodular lymphocyte predominant type, NOS|nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular LP, NOS UMLS:C1334968|ICD10:C81.0|NCIT:C7258|MEDGEN:233758|Orphanet:86893|ONCOTREE:NLPHL owl:Class ENVO:01001865 biolink:NamedThing concentration of carbon dioxide in an atmosphere The concentration of carbon dioxide when measured in air that is part of an atmosphere. tmpte7i6ely_mondo_relaxed.owl owl:Class Nb59234ef60d046f2a7f2ec72c166afbe biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:20041 biolink:NamedThing ZNF408 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013658 biolink:NamedThing intellectual disability, autosomal dominant 11 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene. tmpte7i6ely_mondo_relaxed.owl MRD11|intellectual disability, autosomal dominant type 11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|autosomal dominant intellectual disability 11|mental retardation, autosomal dominant type 11|EPB41L1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 11|intellectual disability, autosomal dominant 11|autosomal dominant non-syndromic intellectual disability 11|autosomal dominant mental retardation 11 UMLS:C3280285|DOID:0070041|OMIM:614257 owl:Class HGNC:3378 biolink:NamedThing EPB41L1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000962 biolink:NamedThing spindle cell lipoma A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. tmpte7i6ely_mondo_relaxed.owl spindle cell lipoma (morphologic abnormality)|spindle cell lipoma UMLS:C0334474|DOID:10184|NCIT:C4254|SCTID:404058008|ICDO:8857/0 owl:Class MONDO:0009087 biolink:NamedThing deafness, neural, congenital moderate tmpte7i6ely_mondo_relaxed.owl deafness, neural, congenital moderate OMIM:221500|MESH:C565640|UMLS:C1857337 owl:Class PATO:0001402 biolink:NamedThing multipotent A cellular potency that is the capacity to form multiple differentiated cell types. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001673 biolink:NamedThing fluid surface layer A surface layer which is composed primarily of some liquid or gas. tmpte7i6ely_mondo_relaxed.owl owl:Class Ne3bbb9e120c8425683c514cc8733f720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012717 biolink:NamedThing renal hypomagnesemia 4 Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. tmpte7i6ely_mondo_relaxed.owl renal hypomagnesemia type 4|familial primary hypomagnesemia caused by mutation in EGF|primary hypomagnesemia caused by mutation in EGF|hypomagnesemia, renal, Normocalciuric|EGF primary hypomagnesemia|hypomagnesemia 4, renal|EGF familial primary hypomagnesemia|HOMG4 DOID:0060882|OMIM:611718|Orphanet:34527|MESH:C567127|ICD10:E83.4|UMLS:C2673648 owl:Class HGNC:3229 biolink:NamedThing EGF tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010071 biolink:NamedThing layer of tympanic membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011138 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 1 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene. tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus (disease) caused by mutation in TLR5|systemic lupus erythematosus, resistance to, 1|TLR5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, 1|systemic lupus erythematosus, susceptibility to, type 1|susceptibility to systemic lupus erythematosus 1|SLEB1 OMIM:601744 owl:Class CHEBI:23117 biolink:NamedThing chlorine molecular entity A halogen molecular entity containing one or more atoms of chlorine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013113 biolink:NamedThing metaphyseal anadysplasia 2 Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. tmpte7i6ely_mondo_relaxed.owl metaphyseal anadysplasia type 2|metaphyseal anadysplasia caused by mutation in MMP9|metaphyseal anadysplasia 2|MMP9 metaphyseal anadysplasia|MANDP2 MESH:C567771|Orphanet:1040|OMIM:613073|UMLS:C2751322 owl:Class HGNC:7176 biolink:NamedThing MMP9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014018 biolink:NamedThing hereditary spastic paraplegia 54 A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. tmpte7i6ely_mondo_relaxed.owl DDHD2 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 54|SPG54|autosomal recessive spastic paraplegia 54|autosomal recessive spastic paraplegia type 54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|spastic paraplegia 54, autosomal recessive UMLS:C3539495|OMIM:615033|Orphanet:320380|SCTID:723824005|DOID:0110806|ICD10:G11.4|UMLS:C4510083 owl:Class HGNC:29106 biolink:NamedThing DDHD2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015080 biolink:NamedThing proximal carpal bone pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6772 biolink:NamedThing SMAD6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014245 biolink:NamedThing Diamond-Blackfan anemia 12 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene. tmpte7i6ely_mondo_relaxed.owl DBA12|Diamond-Blackfan anemia 12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL15|Diamond-Blackfan Anemia type 12 Orphanet:124|UMLS:C3809888|OMIM:615550 owl:Class HGNC:10306 biolink:NamedThing RPL15 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7708 biolink:NamedThing NDUFS2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:566 biolink:NamedThing AP3B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009758 biolink:NamedThing congenital stationary night blindness 1B Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene. tmpte7i6ely_mondo_relaxed.owl CSNB, complete, autosomal recessive|autosomal recessive complete congenital stationary night blindness|night blindness, congenital stationary, type 1B|congenital stationary night blindness type 1B|congenital stationary night blindness 1B|congenital stationary night blindness 1B autosomal recessive|congenital stationary night blindness caused by mutation in GRM6|CSNB1B|GRM6 congenital stationary night blindness|night blindness, congenital stationary, complete, autosomal recessive DOID:0110865|UMLS:C1850362|OMIM:257270 owl:Class HGNC:4598 biolink:NamedThing GRM6 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:39733 biolink:NamedThing Astroviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0030828 biolink:NamedThing Wheezing A high-pitched whistling sound associated with labored breathing. tmpte7i6ely_mondo_relaxed.owl Wheezing SNOMEDCT_US:56018004|UMLS:C0043144|MSH:D012135 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less human_phenotype owl:Class MONDO:0013468 biolink:NamedThing retinitis pigmentosa 59 Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene. tmpte7i6ely_mondo_relaxed.owl DHDDS retinitis pigmentosa|retinitis pigmentosa caused by mutation in DHDDS|RP59|retinitis pigmentosa 59|congenital disorder of glycosylation, type Ibb|retinitis pigmentosa type 59 UMLS:C3151227|DOID:0110352|ICD10:H35.5|OMIM:613861 owl:Class HGNC:20603 biolink:NamedThing DHDDS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014929 biolink:NamedThing retinitis pigmentosa 76 Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 76|POMGNT1 retinitis pigmentosa|retinitis pigmentosa 76; RP76|retinitis pigmentosa caused by mutation in POMGNT1|retinitis pigmentosa 76|RP76 UMLS:C4310704|OMIM:617123 owl:Class HGNC:19139 biolink:NamedThing POMGNT1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003029 biolink:NamedThing detection of hypoxic conditions in blood by carotid body chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies. tmpte7i6ely_mondo_relaxed.owl detection of hypoxic conditions in blood by carotid body chemoreceptor signalling owl:Class MONDO:0009805 biolink:NamedThing osteogenesis imperfecta type 9 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta sillence type II/III without abnormality of type I collagen|PPIB osteogenesis imperfecta|OI type IX|OI, type 9|OI9|osteogenesis imperfecta caused by mutation in PPIB|OI 9|osteogenesis imperfecta type 9|osteogenesis imperfecta, type IX|osteogenesis imperfecta, type 9|osteogenesis imperfecta type IX Orphanet:216804|GARD:0010619|MESH:C564921|OMIM:259440|DOID:0110349|Orphanet:216812|ICD10:Q78.0|Orphanet:216820 owl:Class HGNC:9255 biolink:NamedThing PPIB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004827 biolink:NamedThing thyroid gland medulla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011336 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 4 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. tmpte7i6ely_mondo_relaxed.owl genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|hemophagocytic lymphohistiocytosis, familial, 4|HLH4|Hlh4|HPLH4|hemophagocytic lymphohistiocytosis, familial, type 4|Hplh4|FHL4|familial hemophagocytic lymphohistiocytosis 4|familial hemophagocytic lymphohistiocytosis type 4|STX11 genetic hemophagocytic lymphohistiocytosis Orphanet:540|MESH:C537252|GARD:0009929|DOID:0110924|OMIM:603552 https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4 owl:Class MONDO:0011455 biolink:NamedThing lissencephaly, familial, with cleft palate and cerebellar hypoplasia tmpte7i6ely_mondo_relaxed.owl lissencephaly, familial, with cleft palate and cerebellar hypoplasia MESH:C565781|UMLS:C1858419|OMIM:604382 owl:Class UBERON:0013751 biolink:NamedThing metaphysis of radius tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16429 biolink:NamedThing LIAS tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031247 biolink:NamedThing Whooping cough A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. tmpte7i6ely_mondo_relaxed.owl 2017-08-12 13:22:51+00:00 The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease. peter human_phenotype owl:Class ECTO:0001659 biolink:NamedThing exposure to chloroacetic acid An exposure to chloroacetic acid. tmpte7i6ely_mondo_relaxed.owl exposure to chloroacetic acid owl:Class ENVO:01001285 biolink:NamedThing talc dust Dust which is primarily composed of hydrated magnesium silicate (talc) particles. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015155 biolink:NamedThing conjunctival space tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013922 biolink:NamedThing Seckel syndrome 7 Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. tmpte7i6ely_mondo_relaxed.owl Seckel syndrome type 7|NIN Seckel syndrome|microcephalic primordial dwarfism, Dauber type|Seckel syndrome 7|SCKL7|Seckel syndrome caused by mutation in NIN UMLS:C3553870|DOID:0070011|Orphanet:319675|ICD10:Q87.1|OMIM:614851 ORDO calls this microcephalic primordial dwarfism, Dauber type owl:Class HGNC:14906 biolink:NamedThing NIN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10964 biolink:NamedThing SLC22A18 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000604 biolink:NamedThing retinal rod cell One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0870|FMA:67747|BTO:0001024 cell owl:Class UBERON:0006807 biolink:NamedThing ectepicondyle of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004404 biolink:NamedThing distal epiphysis of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1020 biolink:NamedThing BCS1L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002184 biolink:NamedThing drug-induced hepatitis Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. tmpte7i6ely_mondo_relaxed.owl drug-induced chronic hepatitis EFO:1000905|SCTID:235889003|DOID:2044 owl:Class MONDO:0013326 biolink:NamedThing Senior-Loken syndrome 7 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. tmpte7i6ely_mondo_relaxed.owl Senior-Loken syndrome 7|SENIOR-Loken syndrome 7|Senior-Loken syndrome caused by mutation in SDCCAG8|SLSN7|SDCCAG8 Senior-Loken syndrome|Senior-Loken syndrome type 7 Orphanet:3156|OMIM:613615|UMLS:C3150877 owl:Class GO:0071944 biolink:NamedThing cell periphery The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002534 biolink:NamedThing fallopian tube papilloma A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells. tmpte7i6ely_mondo_relaxed.owl fallopian tube papilloma|fallopian tube serous papilloma NCIT:C40112|DOID:3173|UMLS:C1517123 owl:Class MONDO:0005764 biolink:NamedThing follicular dendritic cell sarcoma A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases. tmpte7i6ely_mondo_relaxed.owl follicular dendritic cell tumour|follicular Dendritic cell sarcoma/tumor|follicular dendritic cell sarcoma|follicular Dendritic cell sarcoma|sarcoma of follicular dendritic cell DOID:6262|MESH:D054740|NCIT:C9281|ICDO:9758/1|ICDO:9758/3|UMLS:C1260325|ICD10:C96.4|ONCOTREE:FDCS|EFO:0007276|Orphanet:86902 owl:Class CL:0000442 biolink:NamedThing follicular dendritic cell A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. tmpte7i6ely_mondo_relaxed.owl FMA:83037|BTO:0004267 Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451. cell owl:Class UBERON:0013703 biolink:NamedThing integumentary projection tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013444 biolink:NamedThing nephronophthisis 9 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. tmpte7i6ely_mondo_relaxed.owl NPHP9|nephronophthisis type 9|nephronophthisis (disease) caused by mutation in NEK8|nephronophthisis 9|NEK8 nephronophthisis (disease) DOID:0111120|Orphanet:655|OMIM:613824|UMLS:C3151188 owl:Class HGNC:13387 biolink:NamedThing NEK8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014359 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 4 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene. tmpte7i6ely_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary, type 4|PPNAD4|chromosome 19P13 Duplication syndrome|PRKACA primary pigmented nodular adrenocortical disease|ACTH-independent adrenal Cushing syndrome, somatic|pigmented nodular adrenocortical disease, primary, 4|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA|Cushing syndrome, adrenal, due to Ppnad4 UMLS:C4014425|OMIM:615830 owl:Class HGNC:9380 biolink:NamedThing PRKACA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011772 biolink:NamedThing B4GALT1-CDG B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. tmpte7i6ely_mondo_relaxed.owl CDG2D|CDG IId|B4GALT1-CDG (CDG-IId)|carbohydrate deficient glycoprotein syndrome type IId|congenital disorder of glycosylation type 2d|Beta-1,4-galactosyltransferase deficiency|CDG 2D|congenital disorder of glycosylation, type IId|CDG-IId|congenital disorder of glycosylation type IId|CDG syndrome type IId|B4GALT1-CDG GARD:0009841|Orphanet:79332|MESH:C535753|OMIM:607091|SCTID:725587007|ICD10:E77.8|DOID:0070256|UMLS:C2931009 owl:Class OBO:CHR_9606-chr22q11.2 biolink:NamedThing 22q11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 25500000 17400000 hg38 owl:Class MONDO:0014411 biolink:NamedThing myopia 24, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MYP24|myopia 24, autosomal dominant OMIM:615946|UMLS:C4014762 owl:Class HGNC:20502 biolink:NamedThing SLC39A5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005148 biolink:NamedThing metanephric S-shaped body tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0011001 biolink:NamedThing spinal cord motor neuron A motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006668 biolink:NamedThing carotid canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003285 biolink:NamedThing fallopian tube leiomyoma A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of fallopian tube|fallopian tube leiomyoma DOID:5124|NCIT:C40127|UMLS:C1517115 owl:Class HGNC:15865 biolink:NamedThing KIZ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009568 biolink:NamedThing trunk region of vertebral column tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20376 biolink:NamedThing SUMF1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000377 biolink:NamedThing tracheoblast tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0006158 biolink:NamedThing colorectal diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the colon or rectum. tmpte7i6ely_mondo_relaxed.owl colorectal DLBCL|colorectum diffuse large B-cell lymphoma|colorectal diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of colorectum UMLS:C3272827|EFO:1000191|NCIT:C96503 owl:Class MONDO:0023133 biolink:NamedThing Faye-Petersen-Ward-Carey syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:C2931417|MESH:C537076 owl:Class UBERON:0010679 biolink:NamedThing manual digit 5 phalanx cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011948 biolink:NamedThing pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. tmpte7i6ely_mondo_relaxed.owl PCH3|PCH with optic atrophy|clam|cerebellar atrophy with progressive microcephaly|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|PCLO non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 3|PCH without dyskinesia|Pch with optic atrophy OMIM:608027|UMLS:C1842687|Orphanet:97249|DOID:0060272|SCTID:718609003|MESH:C548072|ICD10:Q04.3|GARD:0010708 https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 owl:Class HGNC:13406 biolink:NamedThing PCLO tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008345 biolink:NamedThing ileal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019431 biolink:NamedThing primitive portal vein thrombosis Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. tmpte7i6ely_mondo_relaxed.owl non-cirrhotic portal vein thrombosis Orphanet:854|ICD10:I81|MedDRA:10036206 owl:Class MONDO:0042233 biolink:NamedThing disseminated candidiasis Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes. tmpte7i6ely_mondo_relaxed.owl invasive candidiasis|disseminated candida|systemic candida infections|systemic candidiasis|disseminated candidiasis|disseminated candidosis NCIT:C116812|GARD:0001076|SCTID:70572005 owl:Class NCBITaxon:12455 biolink:NamedThing Borna disease virus tmpte7i6ely_mondo_relaxed.owl BDV|Borna disease virus BDV PMID:25449305|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006837 biolink:NamedThing low tension glaucoma A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. tmpte7i6ely_mondo_relaxed.owl glaucoma, normal tension|low tension Glaucomas|tension glaucoma, Low|tension Glaucomas, normal|Glaucomas, Low tension|tension glaucoma, normal|tension Glaucomas, Low|Glaucomas, normal tension|normal tension glaucoma|normal tension Glaucomas|glaucoma, Low tension UMLS:C0152136|DOID:13544|SCTID:50485007|MESH:D057066|MedDRA:10024931|ICD10:H40.12|ICD9:365.12|EFO:1001022 owl:Class MONDO:0014155 biolink:NamedThing atrial fibrillation, familial, 13 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, type 13|ATFB13|atrial fibrillation, familial, 13|SCN1B familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN1B UMLS:C3809311|OMIM:615377|Orphanet:334 owl:Class HGNC:16068 biolink:NamedThing PCNT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021276 biolink:NamedThing papilloma of buccal mucosa A papilloma that involves the buccal mucosa. tmpte7i6ely_mondo_relaxed.owl papilloma of the buccal mucosa|buccal mucosa papilloma UMLS:C1332641|NCIT:C5819|ICD9:210.4|SCTID:448147005 owl:Class HP:0001894 biolink:NamedThing Thrombocytosis Increased numbers of platelets in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl Thrombocythemia|Thrombocythaemia|Increased platelet count|Increased number of platelets in blood SNOMEDCT_US:6631009|UMLS:C0836924|UMLS:C0857460|SNOMEDCT_US:415115007|MSH:D013922 Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. human_phenotype owl:Class HGNC:10600 biolink:NamedThing SCNN1B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004833 biolink:NamedThing lip skeletal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11216 biolink:NamedThing Human respirovirus 3 tmpte7i6ely_mondo_relaxed.owl human parainfluenza virus|human parainfluenza virus 3 HPIV3|Human parainfluenza virus type 3|Parainfluenza virus type 3|HPIV-3|human parainfluenza virus type 3 PIV3|parainfluenza virus type 3 PIV-3|HPIV3|Human parainfluenza 3 virus|Human parainfluenza virus 3 GC_ID:1 NCBITaxon:11202 ncbi_taxonomy owl:Class MONDO:0013876 biolink:NamedThing basal cell carcinoma, susceptibility to, 7 Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene. tmpte7i6ely_mondo_relaxed.owl skin basal cell carcinoma caused by mutation in TP53|basal cell carcinoma, susceptibility to, type 7|basal cell carcinoma, susceptibility to, 7|susceptibility to basal cell carcinoma 7|TP53 skin basal cell carcinoma|BCC7 OMIM:614740 owl:Class HGNC:15924 biolink:NamedThing SALL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021511 biolink:NamedThing benign neoplasm of adrenal gland A benign neoplasm that involves the adrenal gland. tmpte7i6ely_mondo_relaxed.owl benign adrenal gland neoplasm|benign neoplasm of the adrenal gland|benign adrenal gland tumor|benign tumor of the adrenal gland|benign adrenal neoplasm|benign tumor of adrenal gland|adrenal gland benign neoplasm|benign adrenal tumor ICD9:227.0|NCIT:C3629|SCTID:91967007|UMLS:C0154040 owl:Class HGNC:2861 biolink:NamedThing DHFR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002165 biolink:NamedThing rectal neoplasm A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpte7i6ely_mondo_relaxed.owl tumor of the rectum|rectal tumor|neoplasm of rectum|rectum neoplasm|rectum tumor|rectal neoplasm|neoplasm of the rectum|tumor of rectum|rectum neoplasm (disease) SCTID:126847008|NCIT:C3350|MESH:D012004|UMLS:C0034885|DOID:1984 owl:Class MONDO:0013872 biolink:NamedThing prostate cancer, hereditary, 2 Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene. tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, 2|prostate cancer, hereditary, type 2|HPC2|ELAC2 familial prostate cancer|familial prostate cancer caused by mutation in ELAC2 UMLS:C3539120|OMIM:614731 owl:Class HGNC:14198 biolink:NamedThing ELAC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042451 biolink:NamedThing endomyometritis An inflammation of the endometrium and the myometrium. tmpte7i6ely_mondo_relaxed.owl endomyometritis SCTID:88027004 owl:Class GO:0030521 biolink:NamedThing androgen receptor signaling pathway Any series of molecular signals generated as a consequence of an androgen binding to its receptor. tmpte7i6ely_mondo_relaxed.owl androgen receptor signalling pathway owl:Class UBERON:0007118 biolink:NamedThing umbilicus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002331 biolink:NamedThing umbilical cord tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32505 biolink:NamedThing phenylalaninium An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group. tmpte7i6ely_mondo_relaxed.owl phenylalaninium|phenylalanine cation|1-carboxy-2-phenylethanaminium owl:Class MONDO:0004324 biolink:NamedThing testicular fibroma A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization. tmpte7i6ely_mondo_relaxed.owl NCIT:C39951|UMLS:C1515282|DOID:7675 owl:Class MONDO:0007333 biolink:NamedThing van der Woude syndrome 1 Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene. tmpte7i6ely_mondo_relaxed.owl Van Der Woude syndrome type 1|cleft lip and/or palate with mucous cysts of Lower lip|VAN DER Woude syndrome 1|IRF6 van der Woude syndrome|lip-pit syndrome|VWS1|van der Woude syndrome caused by mutation in IRF6|van der Woude syndrome 1|Vdws OMIM:119300|UMLS:C0175697|Orphanet:888 owl:Class GO:0031410 biolink:NamedThing cytoplasmic vesicle A vesicle found in the cytoplasm of a cell. tmpte7i6ely_mondo_relaxed.owl cytoplasmic membrane-enclosed vesicle|cytoplasmic membrane bounded vesicle|cytoplasmic, membrane-bounded vesicle owl:Class HP:0000219 biolink:NamedThing Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). tmpte7i6ely_mondo_relaxed.owl Thin vermilion border of upper lip|Thin upper lips|Thin upper lip|Decreased volume of upper lip vermilion|Decreased height of upper lip vermilion|Decreased volume of upper lip|Thin red part of the upper lip UMLS:C1865017 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. HP:0200086|HP:0200062 human_phenotype owl:Class NCBITaxon:37296 biolink:NamedThing Human gammaherpesvirus 8 tmpte7i6ely_mondo_relaxed.owl Kaposi's sarcoma herpesvirus|HHV8|KSHV|Kaposi's sarcoma-associated herpes-like virus|Human herpesvirus 8|Kaposi's sarcoma-associated herpesvirus|Human herpesvirus 8 type P|Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8 GC_ID:1 NCBITaxon:435896 ncbi_taxonomy owl:Class MONDO:0011198 biolink:NamedThing spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. tmpte7i6ely_mondo_relaxed.owl SEMD, Missouri type|Missouri type of spondyloepimetaphyseal dysplasia|spondyloepimetaphyseal dysplasia Missouri type|spondyloepimetaphyseal dysplasia type 2|SEMD type 2|metaphyseal anadysplasia 1|SEMD Missouri type|spondyloepimetaphyseal dysplasia, Missouri type ICD10:Q77.7|OMIM:602111|GARD:0010618|Orphanet:1040|DOID:0080030|Orphanet:93356|SCTID:719171005 https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type owl:Class HP:0004566 biolink:NamedThing Pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. tmpte7i6ely_mondo_relaxed.owl Pear-shaped vertebral bodies UMLS:C1866731 human_phenotype owl:Class NCBITaxon:12637 biolink:NamedThing Dengue virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022916 biolink:NamedThing cystic hygroma lethal cleft palate tmpte7i6ely_mondo_relaxed.owl Cowchock Wapner Kurtz syndrome 2022-05-01 GARD:0001653 Reason: out of scope. Term to consider: https://rarediseases.info.nih.gov/diseases/1653/cystic-hygroma-lethal-cleft-palate owl:Class MONDO:0009761 biolink:NamedThing cystic hygroma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl cystic lymphangioma|macrocystic lymphatic malformation|hygroma|cystic hygroma, fetal|cystic hygroma|nuchal bleb, familial DOID:3081|Orphanet:79486|MedDRA:10058949|EFO:1000888|MESH:D018191|SCTID:399882002|ICD10:D18.1|ICDO:9173/0|OMIM:257350|NCIT:C3724|GARD:0006234 owl:Class UBERON:0018146 biolink:NamedThing transverse process of lumbar vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011340 biolink:NamedThing congenital tracheal stenosis tmpte7i6ely_mondo_relaxed.owl tracheobronchial stenosis, congenital SCTID:9660004|GARD:0012008|ICD9:748.3|ICD10:Q32.1|Orphanet:141127|OMIM:603569|MESH:C566362 https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis owl:Class MONDO:0014805 biolink:NamedThing Hao-Fountain syndrome A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene. tmpte7i6ely_mondo_relaxed.owl Del(16)(p13.2)|USP7-related neurodevelopmental disorder|16p13.2 microdeletion syndrome|monosomy 16p13.2|chromosome 16p13.2 deletion syndrome|Hao-Fountain syndrome|HAFOUS|chromosome 16P13.2 deletion syndrome OMIM:616863|UMLS:C4225667|Orphanet:500055 owl:Class HGNC:12630 biolink:NamedThing USP7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014956 biolink:NamedThing Chitayat syndrome tmpte7i6ely_mondo_relaxed.owl Chitayat syndrome; CHYTS|CHYTS|Chitayat syndrome OMIM:617180|UMLS:C4310679 owl:Class HGNC:3444 biolink:NamedThing ERF tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001254 biolink:NamedThing urothelium of ureter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010361 biolink:NamedThing intellectual disability, X-linked 30 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in PAK3|PAK3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 30|intellectual disability, X-linked 47|mental retardation, X-linked 47|intellectual disability, X-linked 30|MRX30|mental retardation, X-linked 30|mental retardation, X-linked type 30 OMIM:300558|UMLS:C0796237|Orphanet:777 owl:Class HGNC:8592 biolink:NamedThing PAK3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18025 biolink:NamedThing COA6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003723 biolink:NamedThing RNA binding Binding to an RNA molecule or a portion thereof. tmpte7i6ely_mondo_relaxed.owl poly(A)-RNA binding|poly(A) RNA binding|poly-A RNA binding|base pairing with RNA owl:Class MONDO:0013220 biolink:NamedThing hemochromatosis type 2B Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene. tmpte7i6ely_mondo_relaxed.owl hemochromatosis type 2 caused by mutation in HAMP|hemochromatosis, type 2B|HAMP hemochromatosis type 2|HFE2B OMIM:613313|Orphanet:79230|UMLS:C1865616|MESH:C566557|DOID:0111032 owl:Class MONDO:0013686 biolink:NamedThing distal myopathy, Tateyama type Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. tmpte7i6ely_mondo_relaxed.owl MPDT|myopathy, distal, Tateyama type Orphanet:488650|SCTID:711265009|DOID:0111191|OMIM:614321|UMLS:C3280443 owl:Class CL:0002220 biolink:NamedThing interstitial cell of pineal gland A cell located between the pinealocytes. tmpte7i6ely_mondo_relaxed.owl FMA:86575 tmeehan 2010-09-02T04:28:41Z cell owl:Class OBO:CHR_9606-chr17q21 biolink:NamedThing 17q21 (Human) tmpte7i6ely_mondo_relaxed.owl 52100000 39800000 hg38 owl:Class OBO:CHR_9606-chr17q2 biolink:NamedThing 17q2 (Human) tmpte7i6ely_mondo_relaxed.owl 83257441 39800000 hg38 owl:Class MONDO:0024476 biolink:NamedThing epithelial neoplasm of rectum A epithelial neoplasm that involves the rectum. tmpte7i6ely_mondo_relaxed.owl rectum epithelial neoplasm|rectal epithelial tumor|rectal epithelial neoplasm owl:Class MONDO:0005952 biolink:NamedThing scarlet fever A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. tmpte7i6ely_mondo_relaxed.owl scarlatina ICD9:034|UMLS:C0036285|NCIT:C94575|MESH:D012541|ICD10:A38|EFO:0007477|SCTID:30242009|ICD9:034.1|ICD10:A38.9|DOID:8596 owl:Class MONDO:0006093 biolink:NamedThing ascending colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl ascending colon NET G1|ascending colon carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of ascending colon|ascending colon carcinoid tumor|carcinoid tumor of the ascending colon|carcinoid tumor of ascending colon|ascending colon neuroendocrine neoplasm G1|ascending colon neuroendocrine tumor, well differentiated, low grade|ascending colon neuroendocrine tumor G1 EFO:1000094|UMLS:C1332340|NCIT:C6427 owl:Class HGNC:22965 biolink:NamedThing PEX26 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002866 biolink:NamedThing positive regulation of acute inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpte7i6ely_mondo_relaxed.owl activation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus|up-regulation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus|up regulation of acute inflammatory response to antigenic stimulus owl:Class UBERON:0002514 biolink:NamedThing intramembranous bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004774 biolink:NamedThing inferior eyelid tarsus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18040 biolink:NamedThing ARID1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013386 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 74 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. tmpte7i6ely_mondo_relaxed.owl MSRB3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 74|autosomal recessive deafness 74|deafness, autosomal recessive 74|autosomal recessive nonsyndromic deafness 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3|DFNB74|autosomal recessive nonsyndromic deafness type 74 UMLS:C2239351|OMIM:613718|DOID:0110523|Orphanet:90636|ICD10:H90.3 owl:Class HGNC:27375 biolink:NamedThing MSRB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002923 biolink:NamedThing uterine corpus endometrial stromal sarcoma A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl endometrioid stromal sarcoma of body of uterus|body of uterus endometrioid stromal sarcoma|uterine corpus endometrial stromal sarcoma|uterine corpus ess|uterine corpus endometrial stromal tumor|body of uterus endometrial stromal sarcoma DOID:4227|UMLS:C1519849|NCIT:C40219 owl:Class MONDO:0013539 biolink:NamedThing hypotonia-failure to thrive-microcephaly syndrome Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. tmpte7i6ely_mondo_relaxed.owl LTC4 synthase deficiency|leukotriene C4 synthase deficiency UMLS:C3279662|Orphanet:79507|OMIM:614037|MESH:C565439|SCTID:717185008 owl:Class HGNC:6719 biolink:NamedThing LTC4S tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002410 biolink:NamedThing Aqueductal stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. tmpte7i6ely_mondo_relaxed.owl Aqueduct of Sylvius stenosis|Narrowing of aqueduct of Sylvius|Aqueduct stenosis UMLS:C2936786|MSH:D006849 human_phenotype owl:Class UBERON:0004952 biolink:NamedThing submucosa of bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17877 biolink:NamedThing NMNAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010046 biolink:NamedThing hereditary spastic paraplegia 23 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. tmpte7i6ely_mondo_relaxed.owl DSTYK autosomal recessive complex spastic paraplegia|spastic paraplegia vitiligo premature graying and characteristic facies|spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|SPG 23|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|autosomal recessive spastic paraplegia type 23|spastic paraplegia and pigmentary abnormalities|spastic paraplegia 23|spastic paraplegia with pigmentary abnormalities|hereditary spastic paraplegia type 23|Lison syndrome|SPG23|spastic paraparesis, vitiligo, premature graying, characteristic facies GARD:0000336|Orphanet:101003|ICD10:G11.4|SCTID:726608002|DOID:0110774|UMLS:C0796019|OMIM:270750|MESH:C536859 owl:Class MONDO:0043797 biolink:NamedThing spinal cord injury Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). tmpte7i6ely_mondo_relaxed.owl cord injury, spinal|Contusions, spinal cord|trauma, spinal cord|cord Injuries, spinal|spinal cord Lacerations|post traumatic myelopathy|contusion, spinal cord|Myelopathies, post-traumatic|cord Lacerations, spinal|cord laceration, spinal|cord Transections, spinal|spinal cord laceration|traumatic Myelopathies|spinal cord Traumas|myelopathy, traumatic|injury of spinal cord|cord Traumas, spinal|cord transection, spinal|Myelopathies, traumatic|spinal cord injury|post-traumatic Myelopathies|spinal cord Contusions|spinal cord trauma|injury, spinal cord|spinal cord contusion|spinal cord transection|cord Contusions, spinal|myelopathy, post-traumatic|transection, spinal cord|laceration, spinal cord|cord contusion, spinal|traumatic myelopathy|spinal cord Transections|cord trauma, spinal|Traumas, spinal cord|Lacerations, spinal cord|post-traumatic myelopathy|Injuries, spinal cord|Transections, spinal cord MESH:D013119|Orphanet:90058|EFO:1001919|SCTID:90584004 owl:Class HGNC:11515 biolink:NamedThing TBXT tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50733 biolink:NamedThing nutraceutical A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. tmpte7i6ely_mondo_relaxed.owl Food Supplementation|Nutritional supplement|Dietary Supplement owl:Class UBERON:0006858 biolink:NamedThing adrenal/interrenal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012166 biolink:NamedThing autosomal dominant sensory ataxia 1 Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene. tmpte7i6ely_mondo_relaxed.owl Adsa|ADSA|hereditary ataxia caused by mutation in RNF170|SNAX1|RNF170 hereditary ataxia|ataxia, sensory, 1, autosomal dominant UMLS:C1837015|OMIM:608984|DOID:0111170 owl:Class HGNC:25358 biolink:NamedThing RNF170 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001112 biolink:NamedThing latissimus dorsi muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005137 biolink:NamedThing metanephric capsule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014908 biolink:NamedThing cerebellopontine angle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008192 biolink:NamedThing tendon of triceps brachii tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000134 biolink:NamedThing 40-year-old human stage Adult stage that refers to an adult who is over 40 and under 41. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000117 biolink:NamedThing respiratory tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004258 biolink:NamedThing female orgasmic disorder A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. tmpte7i6ely_mondo_relaxed.owl female orgasmic disorder|inhibited female orgasm ICD9:302.73|ICD10:F52.31|SCTID:60103007|NCIT:C34958|DOID:7518 owl:Class NCBITaxon:272561 biolink:NamedThing Chlamydia trachomatis D/UW-3/CX tmpte7i6ely_mondo_relaxed.owl Chlamydia trachomatis strain D/UW-3/CX|Chlamydia trachomatis str. D/UW-3/CX GC_ID:11 ncbi_taxonomy owl:Class UBERON:0006742 biolink:NamedThing canthus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012849 biolink:NamedThing Joubert syndrome 9 Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome caused by mutation in CC2D2A|Joubert syndrome 9/15, digenic|Joubert syndrome type 9|JBTS9|CC2D2A Joubert syndrome|Joubert syndrome 9 MESH:C567364|DOID:0111004|UMLS:C2676788|OMIM:612285|Orphanet:2318 owl:Class MONDO:0014236 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 2 Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, musculocontractural type, 2|DSE Ehlers-Danlos syndrome, musculocontractural type|EDSMC2|Ehlers-Danlos syndrome, musculocontractural type 2|Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE UMLS:C3809845|Orphanet:2953|OMIM:615539 owl:Class GO:0044085 biolink:NamedThing cellular component biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. tmpte7i6ely_mondo_relaxed.owl cellular component biogenesis at cellular level owl:Class NCBITaxon:1639 biolink:NamedThing Listeria monocytogenes tmpte7i6ely_mondo_relaxed.owl Corynebacterium infantisepticum|Corynebacterium parvulum|Bacterium monocytogenes|Listerella hepatolytica|Erysipelothrix monocytogenes|Bacterium monocytogenes hominis GC_ID:11|PMID:1906732|PMID:17773427|PMID:8782698 NCBITaxon:2485085|NCBITaxon:2364652|NCBITaxon:2485084|NCBITaxon:2364657|NCBITaxon:2482747|NCBITaxon:2485096|NCBITaxon:2486734|NCBITaxon:2482742|NCBITaxon:2293539|NCBITaxon:2485090|NCBITaxon:2293541|NCBITaxon:2482746|NCBITaxon:2482733|NCBITaxon:2364659|NCBITaxon:2486735|NCBITaxon:1634566|NCBITaxon:2293540|NCBITaxon:2482738|NCBITaxon:2293543|NCBITaxon:2482744|NCBITaxon:2364651|NCBITaxon:2486740|NCBITaxon:2485089|NCBITaxon:2485086|NCBITaxon:2486736|NCBITaxon:2486739|NCBITaxon:2482740|NCBITaxon:2364655|NCBITaxon:2486738|NCBITaxon:2485093|NCBITaxon:2364653|NCBITaxon:2485088|NCBITaxon:2482737|NCBITaxon:2482736|NCBITaxon:2364658|NCBITaxon:2482734|NCBITaxon:2482748|NCBITaxon:2484858|NCBITaxon:2293542|NCBITaxon:2364656|NCBITaxon:2293545|NCBITaxon:2485095|NCBITaxon:2482741|NCBITaxon:2364660|NCBITaxon:2293546|NCBITaxon:2293544|NCBITaxon:2486733|NCBITaxon:2482749|NCBITaxon:2485087|NCBITaxon:2485091|NCBITaxon:2482739|NCBITaxon:2482735|NCBITaxon:2486732|NCBITaxon:2484857|NCBITaxon:2485094|NCBITaxon:2485082|NCBITaxon:2486741|NCBITaxon:2486737|NCBITaxon:2482743|NCBITaxon:2485083|NCBITaxon:2364654|NCBITaxon:2293547|NCBITaxon:2482745|NCBITaxon:2485092 ncbi_taxonomy owl:Class MONDO:0009714 biolink:NamedThing myosclerosis Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. tmpte7i6ely_mondo_relaxed.owl myosclerosis, autosomal recessive|congenital myosclerosis, Löwenthal type|myopathy, myosclerotic|congenital myosclerosis, LC6wenthal type|myosclerosis, congenital, of Lowenthal ICD10:G71.8|Orphanet:289380|OMIM:255600|MedDRA:10064584|MESH:C564968|SCTID:763895001 owl:Class MONDO:0032633 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 29 tmpte7i6ely_mondo_relaxed.owl MC1DN29|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 OMIM:618250 owl:Class GO:0002384 biolink:NamedThing hepatic immune response An immune response taking place in the liver. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002606 biolink:NamedThing astrocyte of the spinal cord An astrocyte of the spinal cord. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T07:11:26Z cell owl:Class MONDO:0014644 biolink:NamedThing hereditary spastic paraplegia 74 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. tmpte7i6ely_mondo_relaxed.owl IBA57 hereditary spastic paraplegia|spastic paraplegia 74, autosomal recessive|hereditary spastic paraplegia type 74|autosomal recessive spastic paraplegia type 74|autosomal recessive spastic paraplegia 74|hereditary spastic paraplegia caused by mutation in IBA57|SPG74 OMIM:616451|UMLS:C4225322|Orphanet:468661|DOID:0110819 owl:Class HGNC:27302 biolink:NamedThing IBA57 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035927 biolink:NamedThing sulcus of parietal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009567 biolink:NamedThing Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. tmpte7i6ely_mondo_relaxed.owl Marinesco-Garland syndrome|Marinesco-Sjögren syndrome|MSS|Marinesco-Sjogren-Garland syndrome|oligophrenic cerebellolenticular degeneration|Marinesco-Sjogren syndrome|Garland-Moorhouse syndrome|Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|Marinesco-Sjogren syndrome-myopathy|hereditary oligophrenic cerebello-lental degeneration OMIM:248800|GARD:0008341|ICD9:742.4|DOID:0080195|Orphanet:559|ICD10:G11.1|UMLS:C0024814|SCTID:80734006 owl:Class UBERON:0003886 biolink:NamedThing future coelemic cavity lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014499 biolink:NamedThing intellectual disability, autosomal recessive 46 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive type 46|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|intellectual disability, autosomal recessive type 46|intellectual disability, autosomal recessive 46|mental retardation, autosomal recessive 46|MRT46|NDST1 autosomal recessive non-syndromic intellectual disability OMIM:616116|UMLS:C4015283 owl:Class HGNC:7680 biolink:NamedThing NDST1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045071 biolink:NamedThing mycosis fungoides variant tmpte7i6ely_mondo_relaxed.owl mycosis fungoides variant UMLS:C1513782|NCIT:C39644 owl:Class MONDO:0013117 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene. tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|PEOA5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B|progressive external ophthalmoplegia, autosomal dominant 5 MESH:C567768|DOID:0111518|Orphanet:254892|UMLS:C2751319|OMIM:613077 owl:Class NCBITaxon:263 biolink:NamedThing Francisella tularensis tmpte7i6ely_mondo_relaxed.owl Francisella tularense|Brucella tularensis|Pasteurella tularensis|Bacterium tularense GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003420 biolink:NamedThing bile duct cystadenoma An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. tmpte7i6ely_mondo_relaxed.owl bile duct cystadenoma|bile duct mucinous cystic neoplasm|cystadenoma of bile duct|cystadenoma of the bile duct|bile duct cystadenoma (morphologic abnormality) DOID:5384|UMLS:C0334285|ICDO:8161/0|NCIT:C4129 owl:Class CHEBI:63473 biolink:NamedThing aromatic amino-acid anion An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated). tmpte7i6ely_mondo_relaxed.owl aromatic amino-acid anions owl:Class GO:0048193 biolink:NamedThing Golgi vesicle transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. tmpte7i6ely_mondo_relaxed.owl Golgi-derived vesicle transport owl:Class GO:0007620 biolink:NamedThing copulation The act of sexual union between male and female, involving the transfer of sperm. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006539 biolink:NamedThing mammary gland fluid/secretion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012080 biolink:NamedThing neuronopathy, distal hereditary motor, type 2B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene. tmpte7i6ely_mondo_relaxed.owl HMN2B|HSPB1 neuronopathy, distal hereditary motor|HMN 2B|neuronopathy, distal hereditary motor caused by mutation in HSPB1|neuronopathy, distal hereditary motor, type IIB|neuropathy, distal hereditary motor, type 2B UMLS:C2608087|OMIM:608634|DOID:0111207|MESH:C567084|Orphanet:139525 owl:Class HGNC:5246 biolink:NamedThing HSPB1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0140416 biolink:NamedThing transcription regulator inhibitor activity A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. tmpte7i6ely_mondo_relaxed.owl DNA-binding transcription factor inhibitor activity owl:Class OBO:CHR_9606-chr17p biolink:NamedThing 17p (Human) tmpte7i6ely_mondo_relaxed.owl 25100000 0 hg38 owl:Class GO:1901522 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus. tmpte7i6ely_mondo_relaxed.owl upregulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of transcription from Pol II promoter involved in cellular response to chemical stimulus|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of global transcription from Pol II promoter involved in cellular response to chemical stimulus|upregulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus owl:Class MONDO:0002810 biolink:NamedThing pancreatic serous cystic neoplasm A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma. tmpte7i6ely_mondo_relaxed.owl pancreatic serous neoplasm|pancreatic serous cystic neoplasm DOID:3919|NCIT:C41248|UMLS:C1518875 owl:Class OBO:MF_0000017 biolink:NamedThing consciousness Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. tmpte7i6ely_mondo_relaxed.owl Note that while there are different modes of consciousness corresponding to the different senses, the whole of conscious experience at any one time is largely experienced as a unity, that is, as a fused whole. Mental processes which are simultaneously ongoing are separable only in fiat, not in essence. owl:Class MONDO:0011442 biolink:NamedThing advanced sleep phase syndrome 1 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene. tmpte7i6ely_mondo_relaxed.owl advanced sleep phase syndrome caused by mutation in PER2|familial advanced sleep phase syndrome 1|advanced sleep phase syndrome type 1|PER2 advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 1|advanced sleep phase syndrome, familial, type 1|FASPS1 UMLS:C3807327|OMIM:604348|DOID:0110011|Orphanet:164736 owl:Class HGNC:8846 biolink:NamedThing PER2 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000125 biolink:NamedThing 31-year-old human stage Adult stage that refers to an adult who is over 31 and under 32. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:103 biolink:NamedThing CNNM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004598 biolink:NamedThing acute cor pulmonale Acute form of cor pulmonale. tmpte7i6ely_mondo_relaxed.owl cor pulmonale, acute DOID:8517|UMLS:C0155672|ICD9:415.0|SCTID:49584005|ICD10:I26.09 owl:Class UBERON:0009880 biolink:NamedThing carpal skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004395 biolink:NamedThing epiphysis of first metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024550 biolink:NamedThing frontometaphyseal dysplasia 1 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene. tmpte7i6ely_mondo_relaxed.owl FLNA frontometaphyseal dysplasia|Fmd|FMD1|frontometaphyseal dysplasia caused by mutation in FLNA|FRONTOMETAPHYSEAL dysplasia 1 DOID:0111786|OMIM:305620|Orphanet:1826 owl:Class HGNC:5967 biolink:NamedThing IL11RA tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:168 biolink:NamedThing Treponema pallidum subsp. pertenue tmpte7i6ely_mondo_relaxed.owl yaws treponeme|Treponema pallidum pertenue|Treponema pertenue GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013142 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2B Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene. tmpte7i6ely_mondo_relaxed.owl hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|HSAN2B|hereditary sensory and autonomic neuropathy type 2B|hereditary sensory and autonomic neuropathy type IIB|neuropathy, hereditary sensory and autonomic, type 2B|neuropathy, hereditary sensory and autonomic, type IIB|RETREG1 hereditary sensory and autonomic neuropathy type 2 Orphanet:970|DOID:0070150|UMLS:C2751092|OMIM:613115 owl:Class UBERON:0011110 biolink:NamedThing humeroulnar joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012845 biolink:NamedThing inflammatory bowel disease 19 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 19|inflammatory bowel disease caused by mutation in IRGM|IRGM inflammatory bowel disease|inflammatory bowel disease 19|inflammatory bowel disease (Crohn disease) 19|IBD19 OMIM:612278|DOID:0110890|MESH:C567372|UMLS:C2677079 owl:Class HGNC:29597 biolink:NamedThing IRGM tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18576 biolink:NamedThing CCNO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008210 biolink:NamedThing patterned macular dystrophy 1 Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpte7i6ely_mondo_relaxed.owl MDPT1|PRPH2 patterned macular dystrophy|macular dystrophy, butterfly-shaped pigmentary|butterfly dystrophy of retinal pigment epithelium|macular dystrophy, patterned, type 1|patterned macular dystrophy type 1|patterned dystrophy of retinal pigment epithelium|butterfly-shaped pigmentary maculary dystrophy 1|macular dystrophy, patterned, 1|butterfly-shaped pigment dystrophy of the fovea|patterned macular dystrophy caused by mutation in PRPH2|macular dystrophy, butterfly-Shaped pigmentary DOID:0060866|UMLS:C1868569|OMIM:169150|Orphanet:99001 owl:Class MONDO:0006233 biolink:NamedThing gonadal teratoma A teratoma that arises from the testis or ovary. tmpte7i6ely_mondo_relaxed.owl teratoma, gonads|gonadal teratoma EFO:1000282|NCIT:C98291|UMLS:C3273942 owl:Class CL:0002243 biolink:NamedThing smooth muscle cell of sphincter of pupil A circular smooth muscle cell of the iris, innervated by the ciliary nerves (parasympathetic), and acting to contract the pupil. This muscle cell derives from neuroectoderm. This smooth muscle cell results from transformation of epithelial cells to smooth muscle cells. tmpte7i6ely_mondo_relaxed.owl smooth muscle fiber of sphincter of pupil|smooth muscle fibre of sphincter of pupil FMA:70611 tmeehan 2010-09-08T08:53:42Z cell owl:Class MONDO:0009288 biolink:NamedThing glycogen storage disease Ib A type of glycogenosis due to G6P deficiency. tmpte7i6ely_mondo_relaxed.owl GSD type 1 non a|glycogen storage disease Id|GSDIb|GSD due to G6PT deficiency|Gsd1C|GSD1C|GSD Ic|glycogen storage disease Ic|GSD type IB|G6P translocase deficiency|G6PT deficiency|glycogen storage disease type 1b|GSD1B|glycogen storage disease type IB|glucose-6-phosphate transport defect|GSD Ib|glycogenosis due to glucose-6-phosphatase deficiency type 1B|glycogenosis type 1b|GSD due to G6P deficiency type IB|G6P deficiency type IB|glycogen storage disease type I non-a|glycogenosis due to glucose-6-phosphatase transport defect type IB|glycogen storage disease Ib|glycogen storage disease due to G6P deficiency type IB|GSD type 1b|glycogen storage disease type Ic|glycogenosis type IB Orphanet:79259|SCTID:237965005|NCIT:C122661|OMIM:232240|MESH:C562594|UMLS:C0342749|OMIM:232220|ICD10:E74.0|Orphanet:364|SCTID:30102006|GARD:0002515 Editor note: TODO decide whether to merge Ic owl:Class MONDO:0003953 biolink:NamedThing pediatric CNS choriocarcinoma A choriocarcinoma that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood choriocarcinoma of the central nervous system|choriocarcinoma of the pediatric CNS|choriocarcinoma of childhood central nervous system|choriocarcinoma of pediatric CNS|childhood CNS choriocarcinoma|childhood central nervous system choriocarcinoma|choriocarcinoma of childhood CNS|choriocarcinoma of the childhood central nervous system|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of the pediatric central nervous system|choriocarcinoma of the central nervous system of childhood|Central nervous system choriocarcinoma|pediatric central nervous system choriocarcinoma|choriocarcinoma of pediatric central nervous system|choriocarcinoma of the childhood CNS DOID:6639|NCIT:C6206|UMLS:C1377604 owl:Class HGNC:20997 biolink:NamedThing ZMYND15 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004943 biolink:NamedThing submucosa of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033280 biolink:NamedThing nephrotic syndrome 16 tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 16|NPHS16|nephrotic syndrome 16 OMIM:617783|UMLS:CN651336|DOID:0080272 owl:Class HGNC:29300 biolink:NamedThing KANK2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901402 biolink:NamedThing negative regulation of tetrapyrrole metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process. tmpte7i6ely_mondo_relaxed.owl down regulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolic process|negative regulation of tetrapyrrole metabolism|inhibition of tetrapyrrole metabolic process|down regulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process owl:Class CHEBI:33290 biolink:NamedThing food A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life.|Any material that can be ingested by an organism. tmpte7i6ely_mondo_relaxed.owl food materials|food material|foodstuffs|food role|foods|foodstuff owl:Class Ne06ffda146454df1991333a24c393931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010148 biolink:NamedThing Mounier-Kuhn syndrome Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. tmpte7i6ely_mondo_relaxed.owl Mounier-Kuhn syndrome|idiopathic tracheobronchomegaly|Mounier-Kühn syndrome|tracheobronchomegaly|Mounier Kuhn syndrome|congenital tracheobronchomegaly SCTID:57451009|Orphanet:3347|GARD:0005234|ICD10:J98.0|UMLS:C0040587|MedDRA:10044316|OMIM:275300|UMLS:C2713583|GARD:0003793|ICD9:748.3|MESH:D014137|NCIT:C85196 owl:Class GO:0019889 biolink:NamedThing pteridine metabolic process The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group. tmpte7i6ely_mondo_relaxed.owl pteridine metabolism owl:Class MONDO:0009168 biolink:NamedThing Fowler syndrome tmpte7i6ely_mondo_relaxed.owl Encephaloclastic proliferative vasculopathy|hydranencephaly, fowler type|Fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydrocephaly/hydranencephaly due to cerebral vasculopathy|PVHH|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|cerebral proliferative glomeruloid vasculopathy Orphanet:221126|ICD9:596.59|MESH:C565593|OMIM:225790|MedDRA:10071718|SCTID:700242002|DOID:0111666 owl:Class HGNC:20105 biolink:NamedThing FLVCR2 tmpte7i6ely_mondo_relaxed.owl owl:Class N3b1a0b0979fe45bda64c3affb3e4f77b biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0003705 biolink:NamedThing Meckel's diverticulum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010139 biolink:NamedThing isolated thyroid-stimulating hormone deficiency Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. tmpte7i6ely_mondo_relaxed.owl congenital nongoitrous hypothryoidism 4|hypothyroidism, congenital, nongoitrous, 4|isolated TSH deficiency|CHNG4|TSH deficiency|thyroid-stimulating hormone, deficiency of|hypothyroidism, congenital, nongoitrous, type 4|thyrotropin deficiency, isolated|pituitary cretinism|thyroid-stimulating hormone deficiency|congenital nongoitrous hypothyroidism 4|isolated thyrotropin deficiency|thyrotropin, biologically inactive UMLS:C4082174|DOID:0070123|Orphanet:90674|GARD:0010129|UMLS:C0271789|OMIM:275100|ICD10:E03.1 owl:Class HGNC:12372 biolink:NamedThing TSHB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001696 biolink:NamedThing gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpte7i6ely_mondo_relaxed.owl hydrochloric acid secretion owl:Class MONDO:0011520 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 2|susceptibility to systemic lupus erythematosus 2|SLEB2|systemic lupus erythematosus, susceptibility to, type 2 OMIM:605218|UMLS:C1854577 owl:Class HGNC:3033 biolink:NamedThing ATN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004361 biolink:NamedThing adult spinal cord ependymoma An ependymoma of the spinal cord occurring in adults. tmpte7i6ely_mondo_relaxed.owl spinal cord ependymoma of adults|adult spinal cord ependymoma|spinal cord ependymoma UMLS:C1332215|NCIT:C27399|DOID:7788 owl:Class CL:2000015 biolink:NamedThing fibroblast of arm Any skin fibroblast that is part of a arm. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:29:06Z cell owl:Class MONDO:0012248 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. tmpte7i6ely_mondo_relaxed.owl LGMD-POMT1 related|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|muscular dystrophy limb-girdle type 2K|POMT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|limb-girdle muscular dystrophy-intellectual disability syndrome|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|LGMD2K|MDDGC1|limb-girdle muscular dystrophy - intellectual disability|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|muscular dystrophy, limb-girdle, type 2K|limb-girdle muscular dystrophy type 2K ICD10:G71.0|NCIT:C133730|SCTID:720523006|Orphanet:86812|GARD:0012535|EFO:0009145|OMIM:609308|DOID:0110297 owl:Class HGNC:9202 biolink:NamedThing POMT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014596 biolink:NamedThing lissencephaly 7 with cerebellar hypoplasia tmpte7i6ely_mondo_relaxed.owl LIS7|lissencephaly 7 with cerebellar hypoplasia UMLS:C4225359|OMIM:616342 owl:Class HGNC:1774 biolink:NamedThing CDK5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005359 biolink:NamedThing spinal cord ependyma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002089 biolink:NamedThing thoracodorsal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041284 biolink:NamedThing primary motor cortex epilepsy A epilepsy that involves the primary motor cortex. tmpte7i6ely_mondo_relaxed.owl motor cortex epilepsy|epilepsy of primary motor cortex|Jacksonian epilepsy|primary motor cortex epilepsy UMLS:C0234978|SCTID:267592003 Editor note: TODO. Request Jacksonian seizures from HP? owl:Class CL:0002019 biolink:NamedThing Ly-76 high reticulocyte A reticulocyte that is Ly76-high and is Kit-negative. tmpte7i6ely_mondo_relaxed.owl Marker associated with mouse cells. tmeehan 2010-04-26T11:37:00Z cell owl:Class CL:0002017 biolink:NamedThing Kit-negative, Ly-76 high orthochromatophilic erythroblasts An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative. tmpte7i6ely_mondo_relaxed.owl Cell surface markers associated with mouse cells. tmeehan 2010-04-26T11:04:15Z cell owl:Class MONDO:0013621 biolink:NamedThing LAMB2-related infantile-onset nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 5, with or without ocular abnormalities|NPHS5 ICD10:N04.8|UMLS:C3280113|Orphanet:306507|OMIM:614199 owl:Class MONDO:0019134 biolink:NamedThing central neurocytoma Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. tmpte7i6ely_mondo_relaxed.owl CNC|central neurocytoma (WHO grade II)|Neurolipocytoma Orphanet:73256|ICDO:9506/1|EFO:1000856|DOID:14174|GARD:0010641|NCIT:C3791|UMLS:C0206719|MESH:D018306|ONCOTREE:CNC https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma owl:Class MONDO:0007343 biolink:NamedThing isolated congenital digital clubbing Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. tmpte7i6ely_mondo_relaxed.owl clubbing of digits|isolated congenital acropachy|isolated congenital nail clubbing|digital clubbing, isolated congenital|acropachy, hereditary OMIM:119900|ICD10:Q68.1|Orphanet:217059 owl:Class HGNC:5154 biolink:NamedThing HPGD tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060100 biolink:NamedThing positive regulation of phagocytosis, engulfment Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009552 biolink:NamedThing distal segment of manual digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006091 biolink:NamedThing appendix neuroendocrine tumor G1 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl appendix NET G1 (carcinoid)|vermiform appendix NET G1|vermiform appendix neuroendocrine neoplasm G1|vermiform appendix carcinoid tumor (disease)|appendix carcinoid endocrine tumour|appendix neuroendocrine tumor G1 (carcinoid)|appendix NET G1|vermiform appendix carcinoid tumor|appendix carcinoid tumor|vermiform appendix neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of appendix|carcinoid tumor of the appendix|grade 1 neuroendocrine neoplasm of vermiform appendix|appendiceal carcinoid tumor DOID:0050911|EFO:1000092|ICD9:209.11|ICDO:8240/1|SCTID:253002004|UMLS:C0334298|NCIT:C4138 owl:Class MONDO:0010495 biolink:NamedThing trichothiodystrophy 5, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene. tmpte7i6ely_mondo_relaxed.owl nonphotosensitive trichothiodystrophy caused by mutation in RNF113A|TTD5|RNF113A nonphotosensitive trichothiodystrophy|trichothiodystrophy 5, nonphotosensitive OMIM:300953|UMLS:C4225420 owl:Class HGNC:12974 biolink:NamedThing RNF113A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020483 biolink:NamedThing acetazolamide-responsive myotonia Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). tmpte7i6ely_mondo_relaxed.owl Acetazolamide-responsive congenital myotonia|ACZ-responsive congenital myotonia|myotonia-painful contractions syndrome|painful myotonia|ACZ-responsive myotonia|painful congenital myotonia ICD10:G71.1|Orphanet:99736|OMIM:608390|SCTID:715793003 owl:Class HGNC:10982 biolink:NamedThing SLC25A12 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0007608 biolink:NamedThing sensory perception of smell The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl smell perception|scent perception|sense of smell|olfaction owl:Class GO:0032057 biolink:NamedThing negative regulation of translational initiation in response to stress Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl inhibition of translation initiation in response to stress|down-regulation of translation initiation in response to stress|downregulation of translation initiation in response to stress|down regulation of translation initiation in response to stress owl:Class MONDO:0013417 biolink:NamedThing complement component 3 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. tmpte7i6ely_mondo_relaxed.owl C3 deficiency, autosomal recessive|C3 classic complement early component deficiency|C3 deficiency|complement component 3 deficiency, autosomal recessive|C3d|classic complement early component deficiency caused by mutation in C3 UMLS:C1332655|ICD10:D84.1|DOID:8354|MESH:C565169|UMLS:C3151071|OMIM:613779|NCIT:C9468|Orphanet:280133 owl:Class CL:0000745 biolink:NamedThing retina horizontal cell A neuron that laterally connects other neurons in the inner nuclear layer of the retina. tmpte7i6ely_mondo_relaxed.owl horizontal cell BTO:0004120 cell owl:Class UBERON:0009553 biolink:NamedThing distal segment of pedal digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001235 biolink:NamedThing appendix cancer A malignant neoplasm involving the vermiform appendix tmpte7i6ely_mondo_relaxed.owl cancer of vermiform appendix|malignant neoplasm of the appendix|cancer of the appendix|malignant appendix neoplasm|malignant neoplasm of appendix vermiformis|malignant vermiform appendix neoplasm|malignant appendix tumor|malignant tumor of the appendix|vermiform appendix cancer|malignant neoplasm of appendix|malignant neoplasm of vermiform appendix|malignant tumor of appendix ICD9:153.5|NCIT:C9333|MESH:D001063|UMLS:C0496779|ICD10:C18.1|SCTID:363411007|DOID:11239 owl:Class MONDO:0024650 biolink:NamedThing drug-induced osteoporosis tmpte7i6ely_mondo_relaxed.owl drug-induced osteoporosis SCTID:14651005|ICD9:733.09 owl:Class CHEBI:25367 biolink:NamedThing molecule Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. tmpte7i6ely_mondo_relaxed.owl molecules|neutral molecular compounds|Molekuel|molecula|molecule owl:Class MONDO:0013739 biolink:NamedThing chilblain lupus 2 Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene. tmpte7i6ely_mondo_relaxed.owl Chilblain lupus type 2|chilblain lupus caused by mutation in SAMHD1|CHBL2|chilblain lupus 2|SAMHD1 chilblain lupus Orphanet:90280|UMLS:C3280721|OMIM:614415 owl:Class HGNC:15925 biolink:NamedThing SAMHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015474 biolink:NamedThing axilla skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003957 biolink:NamedThing adult pineoblastoma A pineoblastoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult pineoblastoma|pineoblastoma|pineoblastoma of adults NCIT:C8292|DOID:6648|UMLS:C0281332 owl:Class UBERON:3000982 biolink:NamedThing tail external integument structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014346 biolink:NamedThing white sponge nevus 2 tmpte7i6ely_mondo_relaxed.owl WSN2|White sponge Nevus type 2|WHITE sponge NEVUS 2|white sponge nevus 2 UMLS:C4014321|OMIM:615785|Orphanet:171723 owl:Class MONDO:0011258 biolink:NamedThing branchiootic syndrome 1 Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene. tmpte7i6ely_mondo_relaxed.owl anterior segment anomalies with or without cataract|branchiootic syndrome 1|bo syndrome 1|branchiootic syndrome caused by mutation in EYA1|branchiootic dysplasia|BOS1|EYA1 branchiootic syndrome|branchiootic syndrome type 1 UMLS:C1865143|OMIM:602588|Orphanet:52429 owl:Class HGNC:3519 biolink:NamedThing EYA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014409 biolink:NamedThing intellectual disability, autosomal recessive 44 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 44|mental retardation, autosomal recessive type 44|intellectual disability, autosomal recessive 44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|METTL23 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 44|MRT44 UMLS:C4014745|OMIM:615942 owl:Class HGNC:26988 biolink:NamedThing METTL23 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8p1 biolink:NamedThing 8p1 (Human) tmpte7i6ely_mondo_relaxed.owl 45200000 29000000 hg38 owl:Class MONDO:0010508 biolink:NamedThing intellectual disability, X-linked 103 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked type 103|mental retardation, X-linked 103|intellectual disability, X-linked 103|MRX103|KLHL15 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in KLHL15|mental retardation, X-linked type 103 UMLS:C4310818|OMIM:300982 owl:Class HGNC:29347 biolink:NamedThing KLHL15 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005009 biolink:NamedThing mucosa of trigone of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017388 biolink:NamedThing celiac trunk compression syndrome tmpte7i6ely_mondo_relaxed.owl Dunbar syndrome ICD10:I77.4|Orphanet:293208|UMLS:CN203119 owl:Class UBERON:0004408 biolink:NamedThing distal epiphysis of ulna tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3582 biolink:NamedThing FANCA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010370 biolink:NamedThing Cornelia de Lange syndrome 2 An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. tmpte7i6ely_mondo_relaxed.owl Cornelia De Lange syndrome, X-linked|Cornelia de Lange syndrome caused by mutation in SMC1A|CDLS2|Cornelia De Lange syndrome type 2|X-linked Cornelia De Lange syndrome|SMC1A Cornelia de Lange syndrome|Cornelia de Lange syndrome 2|Cdls, X-linked|Cornelia DE Lange syndrome 2 Orphanet:199|NCIT:C75485|OMIM:300590|DOID:0080506|UMLS:C1802395 owl:Class MONDO:0013193 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 2 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. tmpte7i6ely_mondo_relaxed.owl thyrotoxic periodic paralysis, susceptibility to, 2|thyrotoxic periodic paralysis, susceptibility to, type 2|TTPP2|thyrotoxic periodic paralysis caused by mutation in KCNJ18|KCNJ18 thyrotoxic periodic paralysis OMIM:613239|Orphanet:79102 owl:Class HGNC:39080 biolink:NamedThing KCNJ18 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013559 biolink:NamedThing Hermansky-Pudlak syndrome 7 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. tmpte7i6ely_mondo_relaxed.owl Hermansky-Pudlak syndrome caused by mutation in DTNBP1|Hermansky-Pudlak syndrome type 7|Hermansky-Pudlak syndrome 7|DTNBP1 Hermansky-Pudlak syndrome|HPS7 Orphanet:231531|DOID:0060545|UMLS:C3279756|Orphanet:79430|ICD10:E70.3|OMIM:614076 owl:Class MONDO:0009934 biolink:NamedThing alveolar capillary dysplasia with misalignment of pulmonary veins A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. tmpte7i6ely_mondo_relaxed.owl congenital alveolar capillary dysplasia|alveolar capillary dysplasia with pulmonary venous misalignment|persistent fetal circulation|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies|alveolar capillary dysplasia with misalignment of pulmonary veins|congenital alveolar capillary dysplasia with misalignment of pulmonary veins|fetal circulation|persistent pulmonary hypertension of the newborn|pulmonary hypertension, familial persistent of the newborn|ACDMPV|familial persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary vessels|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|alveolar capillary dysplasia MESH:D010547|Orphanet:210122|OMIM:265380|ICD9:747.49|ICD9:747.83|DOID:13042|UMLS:C0031190|NCIT:C98809|GARD:0008644|ICD10:P29.3|SCTID:447275002|MedDRA:10054726|EFO:1001103|MESH:C536590 Editor note: MESH and NCIT split this, see NCIT:C98809 https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia owl:Class HGNC:3809 biolink:NamedThing FOXF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17869 biolink:NamedThing AFF4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001601 biolink:NamedThing extra-ocular muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002262 biolink:NamedThing capillary lymphangioma A lymphangioma that involves the capillary. tmpte7i6ely_mondo_relaxed.owl cutaneous lymphangioma|capillary lymphangioma NCIT:C27509|SCTID:445492005|DOID:2286|UMLS:C1333176 owl:Class UBERON:0013757 biolink:NamedThing capillary blood tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:37826 biolink:NamedThing sulfuric acid derivative tmpte7i6ely_mondo_relaxed.owl sulfuric acid derivatives|sulfuric acid derivative owl:Class HGNC:21862 biolink:NamedThing DYNC2I1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003072 biolink:NamedThing optic cup tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016220 biolink:NamedThing congenital temporomandibular joint ankylosis Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. tmpte7i6ely_mondo_relaxed.owl congenital trismus Orphanet:210576|ICD10:K07.6|SCTID:763215008 owl:Class HGNC:26404 biolink:NamedThing NADK2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009679 biolink:NamedThing set of lower jaw teeth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005748 biolink:NamedThing enzootic pneumonia of calves Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species. tmpte7i6ely_mondo_relaxed.owl EFO:0007256|MESH:D048089|UMLS:C0276046 owl:Class NCBITaxon:9895 biolink:NamedThing Bovidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008338 biolink:NamedThing contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A tmpte7i6ely_mondo_relaxed.owl multiple pterygium syndrome, autosomal dominant|DA8|arthrogryposis, distal, type 8|distal arthrogryposis type 8|pterygium syndrome, multiple, autosomal dominant OMIM:178110|UMLS:C1867440|MESH:C566739|ICD10:Q79.8|GARD:0013058|Orphanet:65743 https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome owl:Class HGNC:7573 biolink:NamedThing MYH3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012824 biolink:NamedThing hypomyelinating leukodystrophy 4 Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. tmpte7i6ely_mondo_relaxed.owl MitCHAP60 disease|Mitchap60 disease|mitochondrial Hsp60 chaperonopathy|mitochondrial HSP60 chaperonopathy|leukodystrophy caused by mutation in HSPD1|HSPD1 leukodystrophy|hypomyelinating leukodystrophy type 4|HLD4|leukodystrophy, hypomyelinating, 4|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation|leukodystrophy, hypomyelinating, type 4 DOID:0060789|MESH:C567390|ICD10:E75.2|Orphanet:280270|UMLS:C2677109|OMIM:612233|Orphanet:280288 owl:Class HGNC:5261 biolink:NamedThing HSPD1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30668 biolink:NamedThing SRPX2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004879 biolink:NamedThing nuclear receptor activity A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. tmpte7i6ely_mondo_relaxed.owl 9-cis retinoic acid receptor activity|ligand-dependent transcription factor activity|vitamin D receptor activity|estrogen nuclear receptor activity|vitamin D3 receptor activity|RXR|androgen receptor activity|1,25-(OH)2D3 receptor activity|glucocorticoid receptor activity|ligand-dependent nuclear receptor activity|juvenile hormone receptor activity|nuclear hormone receptor|RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity|ecdysteroid hormone receptor activity|vitamin A receptor activity|nuclear receptor activity|thyroid hormone receptor activity|RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|retinoic acid receptor activity|RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding|calcitriol receptor activity|retinoid-X receptor activity owl:Class NCBITaxon:35793 biolink:NamedThing Rickettsia sibirica tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:17114787 ncbi_taxonomy owl:Class UBERON:0000349 biolink:NamedThing limbic system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002914 biolink:NamedThing childhood brain stem neoplasm A neoplasm that affects the brain stem and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood tumor of the brain stem|pediatric neoplasm of the brain stem|pediatric brainstem tumor|childhood tumor of brain stem|pediatric brainstem neoplasm|pediatric tumor of the brainstem|pediatric tumor of the brain stem|pediatric brain stem tumor|pediatric neoplasm of the brainstem|childhood neoplasm of brain stem|pediatric tumor of brainstem|childhood brainstem tumor|childhood neoplasm of the brainstem|childhood neoplasm of brainstem|pediatric tumor of brain stem|childhood brain stem tumor|childhood brain stem neoplasm|childhood brainstem cancer|pediatric brainstem cancer|brainstem cancer of childhood|pediatric brain stem neoplasm|childhood brainstem neoplasm|childhood tumor of brainstem|childhood neoplasm of the brain stem|pediatric neoplasm of brain stem|childhood tumor of the brainstem|pediatric neoplasm of brainstem|brain stem neoplasm UMLS:C1332951|NCIT:C5969|DOID:4206|EFO:1001767 owl:Class CL:0002656 biolink:NamedThing glandular cell of endometrium A glandular epithelial cell of the endometrium. tmpte7i6ely_mondo_relaxed.owl FMA:86489 tmeehan 2011-07-08T03:54:08Z cell owl:Class MONDO:0005912 biolink:NamedThing phencyclidine abuse The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. tmpte7i6ely_mondo_relaxed.owl phencyclidine abuse|PCP abuse SCTID:7071007|MESH:D010623|EFO:0007436|DOID:5062|ICD9:305.90 owl:Class MONDO:0100147 biolink:NamedThing SATB2 associated disorder A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. tmpte7i6ely_mondo_relaxed.owl SATB2 associated disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0012415 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene. tmpte7i6ely_mondo_relaxed.owl PEOA4|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|progressive external ophthalmoplegia, autosomal dominant 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions OMIM:610131|Orphanet:254892|DOID:0111525|UMLS:C1864668|MESH:C566437 owl:Class HGNC:9180 biolink:NamedThing POLG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014673 biolink:NamedThing cataract 44 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. tmpte7i6ely_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in LSS|cataract type 44|CTRCT44|cataract 44|total early-onset cataract|LSS early-onset non-syndromic cataract UMLS:C4225300|OMIM:616509|Orphanet:98994|ICD10:Q12.0|DOID:0110267|Orphanet:91492 owl:Class HGNC:6708 biolink:NamedThing LSS tmpte7i6ely_mondo_relaxed.owl owl:Class N42f0c6a219224b2594b53f365732cbf9 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024455 biolink:NamedThing autosomal dominant Robinow syndrome 1 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Robinow syndrome caused by mutation in WNT5A|acral dysostosis with Facial and genital abnormalities|Robinow syndrome, autosomal dominant 1|fetal face syndrome|DRS1|WNT5A autosomal dominant Robinow syndrome|Robinow dwarfism|dysostosis acral with facial and genital abnormalities Orphanet:97360|Orphanet:3107|UMLS:C0265205|OMIM:180700|GARD:0002013|DOID:0060766 https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities owl:Class HGNC:12784 biolink:NamedThing WNT5A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7713 biolink:NamedThing NDUFS6 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q32.2 biolink:NamedThing 14q32.2 (Human) tmpte7i6ely_mondo_relaxed.owl 100900000 95800000 hg38 owl:Class MONDO:0013511 biolink:NamedThing cyanosis, transient neonatal tmpte7i6ely_mondo_relaxed.owl cyanosis, transient neonatal|TNCY UMLS:C3151421|OMIM:613977|Orphanet:280615 owl:Class HGNC:4832 biolink:NamedThing HBG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000775 biolink:NamedThing drug allergy Immunologically mediated adverse reactions to medicinal substances used legally or illegally. tmpte7i6ely_mondo_relaxed.owl exposure to drug allergic disease|allergy of exposure to drug MESH:D004342|DOID:0060500 owl:Class MONDO:0007800 biolink:NamedThing chromosome 18p deletion syndrome Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. tmpte7i6ely_mondo_relaxed.owl monosomy 18p|partial monosomy of the short arm of chromosome 18|De Grouchy syndrome|partial monosomy of chromosome 18p|deletion 18p syndrome|partial deletion of the short arm of chromosome type 18|partial deletion of the short arm of chromosome 18|18p-|partial deletion of chromosome 18p|monosomy type 18p|chromosome 18p deletion|18p syndrome|chromosome 18p deletion syndrome GARD:0008631|ICD9:758.39|OMIM:146390|UMLS:C0432442|ICD10:Q93.5|Orphanet:1598|DOID:0060406|Orphanet:261974|NCIT:C84521|MESH:C538309|SCTID:270890001 owl:Class HGNC:1390 biolink:NamedThing CACNA1C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007087 biolink:NamedThing alternating hemiplegia of childhood 1 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene. tmpte7i6ely_mondo_relaxed.owl alternating hemiplegia of childhood caused by mutation in ATP1A2|alternating hemiplegia of childhood type 1|alternating hemiplegia of childhood 1|ATP1A2 alternating hemiplegia of childhood|AHC1 OMIM:104290|UMLS:C3549447|Orphanet:2131 owl:Class HGNC:800 biolink:NamedThing ATP1A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012522 biolink:NamedThing diabetes mellitus, transient neonatal, 3 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. tmpte7i6ely_mondo_relaxed.owl KCNJ11 transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal, type 3|diabetes mellitus, type II, autosomal dominant|diabetes mellitus, transient neonatal, 3|transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|Tndm3 SCTID:609581006|OMIM:610582|Orphanet:99886 owl:Class HGNC:6257 biolink:NamedThing KCNJ11 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000456 biolink:NamedThing mineralocorticoid secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:16187 biolink:NamedThing SLC52A3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000152 biolink:NamedThing exocrine cell A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct. tmpte7i6ely_mondo_relaxed.owl FMA:16014 cell owl:Class MONDO:0013293 biolink:NamedThing isolated microphthalmia 6 Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. tmpte7i6ely_mondo_relaxed.owl PRSS56 isolated microphthalmia|isolated microphthalmia type 6|microphthalmia, isolated 6|microphthalmia, isolated type 6|isolated microphthalmia caused by mutation in PRSS56|microphthalmia, posterior nonsyndromic|posterior nonsyndromic microphthalmia|MCOP6 UMLS:C3150757|Orphanet:2542|ICD10:Q11.0|OMIM:613517|DOID:0060835 owl:Class HGNC:39433 biolink:NamedThing PRSS56 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014818 biolink:NamedThing nephrotic syndrome, type 13 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. tmpte7i6ely_mondo_relaxed.owl familial nephrotic syndrome caused by mutation in NUP205|NUP205 familial nephrotic syndrome|NPHS13|nephrotic syndrome, type 13; NPHS13|nephrotic syndrome, type 13 UMLS:C4225165|DOID:0080381|OMIM:616893 owl:Class HGNC:18658 biolink:NamedThing NUP205 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003118 biolink:NamedThing pharyngeal arch artery 1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000223 biolink:NamedThing endodermal cell A cell of the inner of the three germ layers of the embryo. tmpte7i6ely_mondo_relaxed.owl endoderm cell FMA:72555 cell owl:Class CL:0002236 biolink:NamedThing basal epithelial cell of prostatic duct A cell that constitutes the basal layer of epithelium in the prostatic duct. tmpte7i6ely_mondo_relaxed.owl FMA:74226 tmeehan 2010-09-07T01:59:12Z CL:1000463 cell owl:Class UBERON:0018119 biolink:NamedThing left renal medulla interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045638 biolink:NamedThing negative regulation of myeloid cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of myeloid cell differentiation|inhibition of myeloid cell differentiation|down-regulation of myeloid cell differentiation|downregulation of myeloid cell differentiation owl:Class MONDO:0017299 biolink:NamedThing acute annular outer retinopathy tmpte7i6ely_mondo_relaxed.owl AAOR Orphanet:284460 owl:Class MONDO:0016205 biolink:NamedThing IRVAN syndrome tmpte7i6ely_mondo_relaxed.owl idiopathic retinal-aneurysms-neuroretinitis syndrome|idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome Orphanet:209943|GARD:0012868|UMLS:C3665812|ICD10:H35.0 owl:Class CHEBI:48873 biolink:NamedThing cholinergic antagonist Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. tmpte7i6ely_mondo_relaxed.owl acetylcholine receptor antagonist|Anticholinergikum|anticolinergicos|Anticholinergika|cholinergic-blocking agents|anticholinergiques|anticholinergics|agent anticholinergique|acetylcholine antagonists|anticholinergic agents|agente anticolinergico|agentes anticolinergicos owl:Class HGNC:16001 biolink:NamedThing SUGCT tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001428 biolink:NamedThing bladder urothelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001121 cell owl:Class UBERON:0005328 biolink:NamedThing mesonephric comma-shaped body tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006257 biolink:NamedThing jejunal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl jejunal carcinoid tumor|jejunum neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of jejunum|carcinoid tumor of jejunum|jejunum NET G1|carcinoid tumor of the jejunum|jejunal NET G1|jejunum carcinoid tumor (disease)|jejunum carcinoid tumor|jejunum neuroendocrine tumor, well differentiated, low grade EFO:1000308|NCIT:C6429|UMLS:C1334296 owl:Class MONDO:0019068 biolink:NamedThing congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. tmpte7i6ely_mondo_relaxed.owl fetomaternal alloimmunization with antenatal glomerulopathies|FMAIG|neonatal glomerulopathy due to Neprilysin alloimmunization|neonatal glomerulopathy due to neprilysin alloimmunization|neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency UMLS:C4511239|ICD10:P96.0|SCTID:725592009|Orphanet:69063 owl:Class MONDO:0001962 biolink:NamedThing abnormality of glucagon secretion tmpte7i6ely_mondo_relaxed.owl glucagon secretion abnormality UMLS:C0154191|ICD9:251.4|DOID:14427|SCTID:11178005 owl:Class HGNC:23015 biolink:NamedThing FAM20A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011944 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus with nephritis, susceptibility to, 3|SLEN3 OMIM:607967 owl:Class MONDO:0100337 biolink:NamedThing SEC61A1 deficiency Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia. tmpte7i6ely_mondo_relaxed.owl SEC61A1 deficiency The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy. http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:18276 biolink:NamedThing SEC61A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:6121 biolink:NamedThing ketamine A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group. tmpte7i6ely_mondo_relaxed.owl 2-(methylamino)-2-(2-chlorophenyl)cyclohexanone|(+-)-ketamine|2-(2-chlorophenyl)-2-(methylamino)cyclohexanone|special K|NMDA|2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone|2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone|KETAMINE|ketaminum|dl-ketamine|DL-ketamine|Ketamine|ketamine|ketamina owl:Class CHEBI:38877 biolink:NamedThing intravenous anaesthetic tmpte7i6ely_mondo_relaxed.owl i.v.-Anaesthetika|intravenous anesthetics|i.v.-Anaesthetikum owl:Class HGNC:17104 biolink:NamedThing CDON tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013715 biolink:NamedThing amyotrophic lateral sclerosis type 16 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene. tmpte7i6ely_mondo_relaxed.owl ALS16|amyotrophic lateral sclerosis 16|amyotrophic lateral sclerosis caused by mutation in SIGMAR1|SIGMAR1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 16, juvenile Orphanet:300605|UMLS:C3280587|DOID:0060207|OMIM:614373 owl:Class HGNC:8157 biolink:NamedThing SIGMAR1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006233 biolink:NamedThing female genital tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:16541 biolink:NamedThing protein polypeptide chain A naturally occurring polypeptide synthesized at the ribosome. tmpte7i6ely_mondo_relaxed.owl protein polypeptide chains|Protein|polypeptide chain owl:Class CHEBI:33700 biolink:NamedThing proteinogenic amino-acid residue tmpte7i6ely_mondo_relaxed.owl proteinogenic amino-acid residues|standard amino acid residues|canonical amino-acid residue|canonical amino-acid residues|common amino acid residues|standard amino-acid residues owl:Class GO:0016887 biolink:NamedThing ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. tmpte7i6ely_mondo_relaxed.owl ATPase|ATP monophosphatase activity|adenosine triphosphatase activity|ATP phosphohydrolase activity|adenosine 5'-triphosphatase activity|ATP hydrolase activity|adenosinetriphosphatase activity owl:Class MONDO:0011143 biolink:NamedThing cone-rod dystrophy 6 Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpte7i6ely_mondo_relaxed.owl GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|CORD6|cone-rod dystrophy 6|cone-rod dystrophy caused by mutation in GUCY2D|RCD2|cone-rod dystrophy type 6 GARD:0010656|DOID:0111011|UMLS:C1866293|MESH:C538363|OMIM:601777 owl:Class HGNC:12593 biolink:NamedThing USF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9083 biolink:NamedThing PLOD3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003661 biolink:NamedThing limb muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21645 biolink:NamedThing CHCHD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012123 biolink:NamedThing congenital disorder of glycosylation type 1E The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. tmpte7i6ely_mondo_relaxed.owl carbohydrate-deficient glycoprotein syndrome type 1E|congenital disorder of glycosylation, type Ie|congenital disorder of glycosylation caused by mutation in DPM1|CDG syndrome type Ie|DPM1-CDG (CDG-Ie)|Dol-P-mannosyltransferase deficiency|CDG1E|congenital disorder of glycosylation type Ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type Ie|CDGIe|CDG-Ie|DPM1 congenital disorder of glycosylation|CDG 1E|congenital disorder of glycosylation type 1E|CDG Ie|DPM1-CDG ICD10:E77.8|MESH:C535743|DOID:0080557|Orphanet:79322|GARD:0009831|SCTID:725078006|NCIT:C126871|OMIM:608799 owl:Class MONDO:0013058 biolink:NamedThing cystic leukoencephalopathy without megalencephaly Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy, cystic, without megalencephaly|CLWM|RNAse T2-deficient leukoencephalopathy GARD:0013199|ICD10:E75.2|Orphanet:85136|OMIM:612951|SCTID:720825005|MESH:C567845|UMLS:C2751843 owl:Class MONDO:0001168 biolink:NamedThing spastic hemiplegia A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. tmpte7i6ely_mondo_relaxed.owl spastic hemiplegic cerebral palsy|hemiplegic cerebral palsy|congenital hemiplegia|hemiplegic infantile cerebral palsy NCIT:C116905|DOID:10967|SCTID:79633009|ICD9:343.1|ICD9:342.10|UMLS:C0270805 owl:Class MONDO:0013773 biolink:NamedThing porencephaly 2 Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene. tmpte7i6ely_mondo_relaxed.owl porencephaly type 2|porencephaly 2|COL4A2 porencephaly|porencephaly caused by mutation in COL4A2|POREN2 Orphanet:2940|Orphanet:99810|OMIM:614483|UMLS:C3280970 owl:Class HGNC:2203 biolink:NamedThing COL4A2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003303 biolink:NamedThing roof plate of medulla oblongata tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001218 biolink:NamedThing middle colic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001138 biolink:NamedThing superior mesenteric vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012667 biolink:NamedThing dilated cardiomyopathy 1W Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. tmpte7i6ely_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in VCL|CMD1W|cardiomyopathy, dilated, type 1W|dilated cardiomyopathy type 1W|VCL familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1W UMLS:C1969639|MESH:C566954|OMIM:611407|DOID:0110446|ICD10:I42.0 owl:Class HGNC:20858 biolink:NamedThing SLC39A14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014057 biolink:NamedThing maple syrup urine disease, mild variant tmpte7i6ely_mondo_relaxed.owl maple syrup urine disease, mild variant|MSUDMV OMIM:615135|Orphanet:511|Orphanet:268162|UMLS:C3554575 owl:Class HGNC:25415 biolink:NamedThing PPM1K tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010818 biolink:NamedThing retinitis pigmentosa 12 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 12|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|retinitis pigmentosa type 12|RP with or without preserved Paraarteriole retinal pigment epithelium|RP with or without Pprpe|RP12|RP 12|retinitis pigmentosa caused by mutation in CRB1|CRB1 retinitis pigmentosa GARD:0010376|DOID:0110358|MESH:C563999|ICD10:H35.5|UMLS:C1838647|OMIM:600105 https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12 owl:Class MONDO:0003251 biolink:NamedThing esophageal granular cell tumor A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003 tmpte7i6ely_mondo_relaxed.owl esophagus granular cell tumor|esophageal granular cell tumor|granular cell tumor of the esophagus|granular cell esophagus tumor|granular cell neoplasm of the esophagus|granular cell esophageal tumor|granular cell tumor of esophagus|esophageal granular cell neoplasm|granular cell myoblastoma of the esophagus|granular cell neoplasm of esophagus|granular cell esophagus neoplasm|granular cell myoblastoma of esophagus|esophageal granular cell myoblastoma|malignant granular cell esophageal tumor|granular cell esophagus myoblastoma DOID:5040|UMLS:C1333448|NCIT:C5700 owl:Class CHEBI:35703 biolink:NamedThing xenobiotic A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. tmpte7i6ely_mondo_relaxed.owl xenobiotic compounds|xenobiotic|xenobiotics|Xenobiotic owl:Class MONDO:0020740 biolink:NamedThing ectodermal dysplasia and immunodeficiency 1 tmpte7i6ely_mondo_relaxed.owl EDAID1|EDA-Id|ectodermal dysplasia, anhidrotic, with immune deficiency 1|HED-Id|ectodermal dysplasia, hypohidrotic, with immune deficiency 1 UMLS:C1846006|Orphanet:238468|OMIM:300291|Orphanet:98813 owl:Class MONDO:0013679 biolink:NamedThing sclerosteosis 2 Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene. tmpte7i6ely_mondo_relaxed.owl LRP4 sclerosteosis|sclerosteosis 2|SOST2|sclerosteosis type 2|sclerosteosis caused by mutation in LRP4 DOID:0060757|ICD10:M85.2|Orphanet:3152|OMIM:614305|UMLS:C3280402 owl:Class UBERON:0001606 biolink:NamedThing muscle of iris tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001479 biolink:NamedThing fluid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes. tmpte7i6ely_mondo_relaxed.owl owl:Class Nb13193d5ceff47ae875364b70c7c686d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0011742 biolink:NamedThing aortic valve leaflet tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014082 biolink:NamedThing cryptosporidiosis-chronic cholangitis-liver disease syndrome tmpte7i6ely_mondo_relaxed.owl IMD56|cryptosporidiosis-chronic cholangitis-liver disease syndrome|immunodeficiency 56|IL21R immunodeficiency OMIM:615207|Orphanet:357329|ICD10:D81.8|UMLS:C3554687 owl:Class HGNC:6006 biolink:NamedThing IL21R tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045211 biolink:NamedThing postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. tmpte7i6ely_mondo_relaxed.owl post-synaptic membrane owl:Class CHEBI:28938 biolink:NamedThing ammonium An onium cation obtained by protonation of ammonia. tmpte7i6ely_mondo_relaxed.owl [NH4](+)|Ammonium(1+)|ammonium|azanium|ammonium cation|NH4+|ammonium ion|NH4(+) owl:Class HGNC:29170 biolink:NamedThing FAN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017782 biolink:NamedThing developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). tmpte7i6ely_mondo_relaxed.owl OMIM:616803|Orphanet:313892 owl:Class MONDO:0013803 biolink:NamedThing leukoencephalopathy with calcifications and cysts tmpte7i6ely_mondo_relaxed.owl LCC|leukoencephalopathy, brain calcifications, and cysts|Labrune syndrome Orphanet:542310|UMLS:C3281200|OMIM:614561|MESH:C000598644 owl:Class HGNC:32952 biolink:NamedThing SNORD118 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001653 biolink:NamedThing facial vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014922 biolink:NamedThing myofibrillar myopathy 7 Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene. tmpte7i6ely_mondo_relaxed.owl myofibrillar myopathy (disease) caused by mutation in KY|MFM7|myopathy, myofibrillar, 7|KY myofibrillar myopathy (disease)|alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, type 7 OMIM:617114|DOID:0080098|UMLS:C4310711 owl:Class HGNC:26576 biolink:NamedThing KY tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700089 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 1 Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene. tmpte7i6ely_mondo_relaxed.owl PxMD-PNKD|PNKD paroxysmal dyskinesia|choreoathetosis, nonkinesigenic|paroxysmal dystonic choreoathetosis|paroxysmal nonkinesigenic dyskinesia type 1|PNKD1|mount-reback syndrome|paroxysmal nonkinesigenic dyskinesia 1|choreoathetosis, familial paroxysmal|paroxysmal dyskinesia caused by mutation in PNKD|dystonia 8 OMIM:611147|DOID:0090049|MedDRA:10065658|OMIM:118800|Orphanet:98810|ICD10:G24.8|MedDRA:10065657|GARD:0008722 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0013145 biolink:NamedThing Brugada syndrome 6 Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene. tmpte7i6ely_mondo_relaxed.owl Brugada syndrome 6|BRGDA6|Brugada syndrome type 6|Brugada syndrome caused by mutation in KCNE3|KCNE3 Brugada syndrome DOID:0110223|OMIM:613119|MESH:C567735|ICD10:I49.8|UMLS:C2751089|Orphanet:130 owl:Class HGNC:6243 biolink:NamedThing KCNE3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001458 biolink:NamedThing ulnar nerve lesion A peripheral nerve lesion that involves the ulnar nerve. tmpte7i6ely_mondo_relaxed.owl lesion of ulnar nerve|peripheral nerve lesion of ulnar nerve|ulnar nerve peripheral nerve lesion ICD10:G56.20|ICD10:G56.2|DOID:12168|SCTID:367475009|UMLS:C1288279|ICD9:354.2 Editor note: todo DP for lesions owl:Class UBERON:0001494 biolink:NamedThing ulnar nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004586 biolink:NamedThing rheumatoid lung disease Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis. tmpte7i6ely_mondo_relaxed.owl rheumatoid lung ICD9:714.81|SCTID:398726004|DOID:849|UMLS:C0994344 owl:Class MONDO:0017330 biolink:NamedThing malignancy diagnosed during pregnancy tmpte7i6ely_mondo_relaxed.owl cancer diagnosed during pregnancy UMLS:CN227116|Orphanet:289385 owl:Class MONDO:0014832 biolink:NamedThing intellectual disability, autosomal recessive 53 tmpte7i6ely_mondo_relaxed.owl MRT53|intellectual disability, autosomal recessive 53|PIGG-CDG|GPIBD13|early-onset epilepsy-intellectual disability-brain anomalies syndrome|mental retardation, autosomal recessive type 53|intellectual disability, autosomal recessive type 53|congenital disorder of glycosylation due to PIGG deficiency|mental retardation, autosomal recessive 53|glycosylphosphatidylinositol biosynthesis defect 13 UMLS:C4310794|OMIM:616917|Orphanet:488635 MONDO:0024253 owl:Class HGNC:25985 biolink:NamedThing PIGG tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004376 biolink:NamedThing fin bone tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000342 biolink:NamedThing montane An altitudinal condition which inheres in a bearer by virtue of the bearer being located at an altitude between mid-altitude forests and the tree line. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5181 biolink:NamedThing HRG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018931 biolink:NamedThing mucolipidosis type III Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. tmpte7i6ely_mondo_relaxed.owl ML 3 A|mucolipidosis 3 Alpha/Beta|mucolipidosis type 3 alpha/beta|ML III alpha/beta|ML3|MLIII|ML 3|ML 3 alpha/beta|mucolipidosis type III alpha/beta|pseudo-Hurler polydystrophy|mucolipidosis 3A|mucolipidosis III ALPHA/BETA|mucolipidosis type 3A|mucolipidosis 3|ML 3 Alpha/Beta|mucolipidosis III|mucolipidosis 3 Alpha/Beta, atypical OMIM:252600|UMLS:CN237499|OMIM:252605|ICD10:E77.0|Orphanet:577|Orphanet:423461|SCTID:65764006|GARD:0003806|DOID:0080071 https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta owl:Class HGNC:29670 biolink:NamedThing GNPTAB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043032 biolink:NamedThing positive regulation of macrophage activation Any process that stimulates, induces or increases the rate of macrophage activation. tmpte7i6ely_mondo_relaxed.owl upregulation of macrophage activation|positive regulation of macrophage polarization|up regulation of macrophage activation|stimulation of macrophage activation|up-regulation of macrophage activation|activation of macrophage activation owl:Class MONDO:0003764 biolink:NamedThing pediatric leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. tmpte7i6ely_mondo_relaxed.owl childhood meningeal melanoma|childhood leptomeningeal melanoma|pediatric meningeal melanoma DOID:6089|UMLS:C1332976|NCIT:C5318 owl:Class MONDO:0010967 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 7 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 7|autosomal recessive deafness 7|DFNB11|DFNB7|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal recessive 7|deafness, autosomal recessive type 7|autosomal recessive nonsyndromic deafness type 7|deafness, autosomal recessive 11|TMC1 autosomal recessive nonsyndromic deafness UMLS:C1832978|MESH:C563417|ICD10:H90.3|DOID:0110520|OMIM:600974 owl:Class MONDO:0014412 biolink:NamedThing hyperlipoproteinemia, type 1D Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene. tmpte7i6ely_mondo_relaxed.owl hyperlipoproteinemia, type 1D|hyperlipoproteinemia, type ID|GPIHBP1 familial hyperlipidemia|familial hyperlipidemia caused by mutation in GPIHBP1 DOID:0111420|OMIM:615947|UMLS:C4014767|Orphanet:535458 owl:Class HGNC:24945 biolink:NamedThing GPIHBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009959 biolink:NamedThing lumen of oropharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004249 biolink:NamedThing pediatric supratentorial ependymoma An ependymoma that arises from the supratentorial region of the brain and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric supratentorial ependymoblastoma|pediatric cerebral ependymoma|childhood supratentorial ependymoma|supratentorial ependymoma DOID:7502|UMLS:C0278650|EFO:0008495|NCIT:C9043 owl:Class MONDO:0013403 biolink:NamedThing heterotaxy, visceral, 4, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene. tmpte7i6ely_mondo_relaxed.owl HTX4|ACVR2B visceral heterotaxy|heterotaxy, visceral, 4, autosomal|visceral heterotaxy caused by mutation in ACVR2B Orphanet:450|UMLS:C3151057|OMIM:613751 owl:Class HGNC:174 biolink:NamedThing ACVR2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013465 biolink:NamedThing achromatopsia 4 Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene. tmpte7i6ely_mondo_relaxed.owl achromatopsia 4|achromatopsia caused by mutation in GNAT2|achromatopsia type 4|ACHM4|GNAT2 achromatopsia OMIM:613856|UMLS:C1841721|MESH:C564206|Orphanet:49382|DOID:0110010 owl:Class HGNC:4394 biolink:NamedThing GNAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:34905 biolink:NamedThing paraquat An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions. tmpte7i6ely_mondo_relaxed.owl 1,1'-dimethyl-4,4'-bipyridyldiylium|1,1'-Dimethyl-4,4'-bipyridinium|Paraquat|paraquat ion|N,N'-dimethyl-4,4'-bipyridinium dication|1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium|N,N'-dimethyl-4,4'-bipyridinium|paraquat dication|dimethyl viologen|methyl viologen ion(2+) owl:Class HGNC:4171 biolink:NamedThing GATA2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7820 biolink:NamedThing NHS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005726 biolink:NamedThing chemosensory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014394 biolink:NamedThing Diamond-Blackfan anemia 13 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene. tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan Anemia type 13|Diamond-Blackfan anemia caused by mutation in RPS29|Diamond-Blackfan anemia 13|DBA13|RPS29 Diamond-Blackfan anemia UMLS:C4014641|OMIM:615909|Orphanet:124 owl:Class MONDO:0014844 biolink:NamedThing premature ovarian failure 12 Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene. tmpte7i6ely_mondo_relaxed.owl premature ovarian failure 12; POF12|POF12|premature ovarian failure 12|primary ovarian failure caused by mutation in SYCE1|SYCE1 primary ovarian failure|premature ovarian failure type 12 OMIM:616947|UMLS:C4310782 owl:Class MONDO:0016282 biolink:NamedThing rhabdomyosarcoma of the cervix uteri A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix. tmpte7i6ely_mondo_relaxed.owl cervical rhabdomyosarcoma|uterine cervix rhabdomyosarcoma (disease)|uterine cervix rhabdomyosarcoma|CERMS|rhabdomyosarcoma (disease) of uterine cervix UMLS:CN201072|ICD10:C53.0|Orphanet:213802|ICD10:C53.1|NCIT:C128048|ONCOTREE:CERMS|ICD10:C53.8|UMLS:C4289809|SCTID:763408003 owl:Class MONDO:0001917 biolink:NamedThing chronic perichondritis of pinna Chronic form of perichondritis of auricle. tmpte7i6ely_mondo_relaxed.owl chronic pinna perichondritis|chronic perichondritis of auricle|perichondritis of auricle, chronic ICD9:380.02|SCTID:45431004|UMLS:C0155391|DOID:14243 owl:Class NCBITaxon:36087 biolink:NamedThing Trichuris trichiura tmpte7i6ely_mondo_relaxed.owl human whipworm GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022394 biolink:NamedThing cervical intraepithelial neoplasia tmpte7i6ely_mondo_relaxed.owl Cervical Intraepithelial Neoplasia|Cervical intraepithelial neoplasia|Intraepithelial Neoplasia of Cervix Uteri|Intraepithelial Neoplasia of the Uterine Cervix|Intraepithelial Neoplasia of Cervix|Cervical Intraepithelial Neoplasms|Intraepithelial Neoplasia of the Cervix Uteri|Cervix Uteri Intraepithelial Neoplasia|Intraepithelial Neoplasia of the Cervix|Intraepithelial Neoplasia of Uterine Cervix|Neoplasms, Cervical Intraepithelial|Cervical Intraepithelial Neoplasm|Neoplasm, Cervical Intraepithelial|Uterine Cervix Intraepithelial Neoplasia|Cervix Intraepithelial Neoplasia|Cervical Dysplasia|Intraepithelial Neoplasia, Cervical|NEOPL CERVICAL INTRAEPITHELIAL|Neoplasia, Cervical Intraepithelial|Intraepithelial Neoplasms, Cervical|Intraepithelial Neoplasm, Cervical UMLS:C0206708|GARD:0009244|MEDGEN:60214|SCTID:285636001 owl:Class HP:0030159 biolink:NamedThing Cervical polyp Abnormal growth of tissue projecting from a mucous membrane of the endocervix. tmpte7i6ely_mondo_relaxed.owl Cervical tumor|Cervical tumour SNOMEDCT_US:123841004|MSH:D002583|UMLS:C0007873|SNOMEDCT_US:65576009|UMLS:C0007855 human_phenotype owl:Class MONDO:0012113 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, 3|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9|EIG3 DOID:0111318|OMIM:608762 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class HGNC:2867 biolink:NamedThing DHODH tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:815 biolink:NamedThing ATP2B2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007930 biolink:NamedThing Bernard-Soulier syndrome, type A2, autosomal dominant A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. tmpte7i6ely_mondo_relaxed.owl BSSA2|Bernard-Soulier syndrome, type A2, autosomal dominant|Bernard-Soulier syndrome type A2 OMIM:153670|UMLS:C3277076|DOID:0111059|Orphanet:274 MONDO:0000915 owl:Class HGNC:4439 biolink:NamedThing GP1BA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007496 biolink:NamedThing dystonia 12 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. tmpte7i6ely_mondo_relaxed.owl RDP|rapid-onset dystonia-parkinsonism|DYT12|dystonic disorder caused by mutation in ATP1A3|dystonia-Parkinsonism, rapid-onset|dystonia type 12|DYT-ATP1A3|dystonia 12|ATP1A3 dystonic disorder MESH:C538001|SCTID:702323008|UMLS:C1868681|ICD10:G24.1|GARD:0009628|Orphanet:71517|OMIM:128235|DOID:0090056 owl:Class HGNC:801 biolink:NamedThing ATP1A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018527 biolink:NamedThing osteoclastic giant cell tumor of pancreas tmpte7i6ely_mondo_relaxed.owl pancreatic undifferentiated carcinoma with osteoclast-like giant cells|pancreatic osteoclastic giant cell tumor|undifferentiated carcinoma of pancreas with osteoclast-like giant cells|OGCT of pancreas UMLS:CN237530|Orphanet:424080|ICD10:C25.8|ICD10:C25.7|ICD10:C25.0|ICD10:C25.2|ICD10:C25.1 Editor note: consider merging with MONDO:0006479 owl:Class MONDO:0003287 biolink:NamedThing central nervous system leiomyoma A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity. tmpte7i6ely_mondo_relaxed.owl leiomyoma of CNS|leiomyoma of central nervous system|leiomyoma of the CNS|leiomyoma of the central nervous system|central nervous system leiomyoma NCIT:C6998|UMLS:C1334382|DOID:5126 owl:Class MONDO:0015379 biolink:NamedThing cervical dermoid cyst Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. tmpte7i6ely_mondo_relaxed.owl dermoid cyst of the neck ICD10:Q18.8|SCTID:763129001|Orphanet:141046 owl:Class MONDO:0056817 biolink:NamedThing rectal adenosquamous carcinoma An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpte7i6ely_mondo_relaxed.owl rectal adenosquamous carcinoma|rectal adenosquamous cancer NCIT:C43594|UMLS:C1709865 owl:Class HGNC:25481 biolink:NamedThing TRMU tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11080 biolink:NamedThing Saint Louis encephalitis virus tmpte7i6ely_mondo_relaxed.owl St. Louis encephalitis virus GC_ID:1 NCBITaxon:64321 ncbi_taxonomy owl:Class OBO:CHR_9606-chr3q23 biolink:NamedThing 3q23 (Human) tmpte7i6ely_mondo_relaxed.owl 143100000 139000000 hg38 owl:Class MONDO:0014398 biolink:NamedThing combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. tmpte7i6ely_mondo_relaxed.owl TARS2 combined oxidative phosphorylation deficiency|COXPD21|combined oxidative phosphorylation deficiency type 21|combined oxidative phosphorylation deficiency caused by mutation in TARS2|combined oxidative phosphorylation deficiency 21 DOID:0111465|OMIM:615918|ICD10:E88.8|SCTID:763211004|Orphanet:420733|UMLS:C4014668|EFO:0009032 owl:Class HGNC:30740 biolink:NamedThing TARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004495 biolink:NamedThing skeletal muscle tissue of diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006749 biolink:NamedThing glutathione metabolic process The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. tmpte7i6ely_mondo_relaxed.owl glutathione metabolism|oxidized glutathione reduction owl:Class CHEBI:33747 biolink:NamedThing nickel group molecular entity tmpte7i6ely_mondo_relaxed.owl nickel group molecular entity|nickel group molecular entities owl:Class HGNC:7989 biolink:NamedThing NRAS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006190 biolink:NamedThing mesonephric distal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014374 biolink:NamedThing nephronophthisis 18 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis type 18|NPHP18|nephronophthisis 18|nephronophthisis (disease) caused by mutation in CEP83|CEP83 nephronophthisis (disease) DOID:0111125|OMIM:615862|Orphanet:655|UMLS:C3890591 owl:Class UBERON:0012175 biolink:NamedThing acoustico-facial VII-VIII ganglion complex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003616 biolink:NamedThing bronchus elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2528 biolink:NamedThing CTSC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014364 biolink:NamedThing mitochondrial complex III deficiency nuclear type 8 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial Complex 3 deficiency, nuclear type 8|mitochondrial complex III deficiency nuclear type 8|LYRM7 mitochondrial complex III deficiency|mitochondrial complex III deficiency caused by mutation in LYRM7|mitochondrial complex III deficiency, nuclear type 8|MC3DN8 OMIM:615838|UMLS:C4014440|Orphanet:1460|DOID:0080117 owl:Class HGNC:28072 biolink:NamedThing LYRM7 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030731 biolink:NamedThing guanidinoacetate N-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+). tmpte7i6ely_mondo_relaxed.owl guanidinoacetate transmethylase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity|guanidoacetate methyltransferase activity|methionine-guanidinoacetic transmethylase activity|guanidinoacetate methyltransferase activity|GA methylpherase activity owl:Class MONDO:0005098 biolink:NamedThing stroke disorder A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. tmpte7i6ely_mondo_relaxed.owl CVA|undetermined stroke|stroke syndrome|cerebral infarction|cerebrovascular accident|CVA, cerebrovascular accident|stroke|cerebrovascular accident, (CVA)|syndrome, stroke HP:0001297|OMIM:601367|MESH:D020521|SCTID:230690007|EFO:0000712|NCIT:C3390|NIFSTD:birnlex_12783 Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. owl:Class MONDO:0000777 biolink:NamedThing gastrointestinal allergy A allergic disease that involves the digestive tract. tmpte7i6ely_mondo_relaxed.owl allergic disease of digestive tract|digestive tract allergic disease DOID:0060502 owl:Class MONDO:0012464 biolink:NamedThing cone-rod dystrophy 10 Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy 10|cone-rod dystrophy caused by mutation in SEMA4A|cone-rod dystrophy type 10|SEMA4A cone-rod dystrophy|CORD10 Orphanet:1872|MESH:C564597|UMLS:C1846529|OMIM:610283|DOID:0111017 owl:Class MONDO:0014517 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 9 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene. tmpte7i6ely_mondo_relaxed.owl generalized epilepsy with febrile seizures plus caused by mutation in STX1B|STX1b generalized epilepsy with febrile seizures plus|Gefs+, type 9|STX1B generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus, type 9|GEFSP9|generalized epilepsy with febrile seizures plus caused by mutation in STX1b Orphanet:36387|UMLS:C4015395|OMIM:616172|DOID:0111301 owl:Class HGNC:18539 biolink:NamedThing STX1B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1932 biolink:NamedThing CHI3L1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6485 biolink:NamedThing LAMA5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043209 biolink:NamedThing myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. tmpte7i6ely_mondo_relaxed.owl astrocyte sheath|Schwann cell myelin sheath|oligodendrocyte myelin sheath owl:Class UBERON:0003568 biolink:NamedThing neck connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001445 biolink:NamedThing skeleton of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013212 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2N Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. tmpte7i6ely_mondo_relaxed.owl CMT2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|AARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|Charcot-Marie-Tooth disease, axonal, type 2N|Charcot-Marie-Tooth neuropathy axonal type 2N|autosomal dominant Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease type 2N UMLS:C2750090|Orphanet:228174|ICD10:G60.0|SCTID:719515001|GARD:0012429|OMIM:613287|MESH:C567653|UMLS:C4304671|DOID:0110177 owl:Class UBERON:0015423 biolink:NamedThing hilar portion of hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005604 biolink:NamedThing extrahepatic part of hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099160 biolink:NamedThing postsynaptic intermediate filament cytoskeleton The intermediate filament cytoskeleton that is part of a postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0011115 biolink:NamedThing precursor cell A cell that, by division or terminal differentiation, can give rise to other cell types. tmpte7i6ely_mondo_relaxed.owl Work is needed on GO 'cell differentiation' before it is clear whether the equivalent class definition 'native cell' that capable_of some 'cell differentiation' works. Also, may want to consider merging this with non-terminally differentiated cell. owl:Class MONDO:0019875 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microduplication tmpte7i6ely_mondo_relaxed.owl UMLS:CN206810|Orphanet:96076|ICD10:Q87.3 owl:Class GO:0048137 biolink:NamedThing spermatocyte division The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids. tmpte7i6ely_mondo_relaxed.owl spermatocyte cell division owl:Class MONDO:0013917 biolink:NamedThing nephronophthisis 15 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. tmpte7i6ely_mondo_relaxed.owl NPHP15|nephronophthisis 15|nephronophthisis (disease) caused by mutation in CEP164|nephronophthisis type 15|CEP164 nephronophthisis (disease) DOID:0111123|OMIM:614845|UMLS:C3541853|Orphanet:3156 owl:Class HGNC:29182 biolink:NamedThing CEP164 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005802 biolink:NamedThing hymenolepiasis A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. tmpte7i6ely_mondo_relaxed.owl hymenolepiasis|Hymenolepsis infection|Hymenolepis infectious disease|dwarf tapeworm infection MESH:D006925|GARD:0002787|MedDRA:10020546|ICD10:B71.0|NCIT:C84768|EFO:0007317|UMLS:C0277045|DOID:10074|ICD9:123.6|Orphanet:401|SCTID:44917000|UMLS:C0020413 https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis owl:Class MONDO:0013063 biolink:NamedThing ventricular fibrillation, paroxysmal familial, 2 Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene. tmpte7i6ely_mondo_relaxed.owl VF2|ventricular fibrillation (disease) caused by mutation in DPP6|DPP6 ventricular fibrillation (disease)|ventricular fibrillation, paroxysmal familial, 2|ventricular fibrillation, paroxysmal familial, type 2 MESH:C567841|OMIM:612956|UMLS:C2751829|Orphanet:228140 owl:Class GO:0006906 biolink:NamedThing vesicle fusion Fusion of the membrane of a transport vesicle with its target membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000617 biolink:NamedThing kidney inner medulla cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001026 cell owl:Class MONDO:0033543 biolink:NamedThing cone-rod synaptic disorder syndrome, congenital nonprogressive tmpte7i6ely_mondo_relaxed.owl CRSDS|CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE OMIM:618970 owl:Class MONDO:0009876 biolink:NamedThing isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3. tmpte7i6ely_mondo_relaxed.owl congenital isolated GH deficiency|ILLIG type growth hormone deficiency|Growth hormone deficiency, isolated, autosomal recessive|congenital IGHD|isolated growth hormone deficiency type IA|autosomal recessive isolated growth hormone deficiency|congenital isolated GH deficiency type IA|IGHD 1A|Growth hormone deficiency, isolated autosomal recessive|Illig-type growth hormone deficiency|congenital isolated growth hormone deficiency|pituitary dwarfism 1|congenital IGHD type IA|primordial dwarfism|isolated Growth hormone deficiency, type 1A|congenital isolated growth hormone deficiency type IA|pituitary dwarfism I|non-acquired isolated growth hormone deficiency|isolated growth hormone deficiency, type IA|IGHD IA|IGHD1A|sexual ateleiotic dwarfism|isolated growth hormone deficiency type 1A|Illig-type Growth hormone deficiency OMIM:262400|Orphanet:631|ICD9:259.4|ICD10:E23.0|SCTID:237837007|GARD:0007399|Orphanet:231662|DOID:0060873|MESH:C537404 https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a owl:Class HGNC:4261 biolink:NamedThing GH1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003582 biolink:NamedThing nasopharynx connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14253 biolink:NamedThing CERS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018971 biolink:NamedThing isolated oxycephaly Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull. tmpte7i6ely_mondo_relaxed.owl acrocephaly|hypsocephaly|pyrgocephaly|hypsicephaly|turricephaly OMIM:616602|Orphanet:63440|OMIM:123100|ICD10:Q75.0|SCTID:48069004 owl:Class MONDO:0014138 biolink:NamedThing nemaline myopathy 8 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. tmpte7i6ely_mondo_relaxed.owl nemaline myopathy 8|NEM8|KLHL40 nemaline myopathy|nemaline myopathy type 8|nemaline myopathy 8, autosomal recessive|nemaline myopathy caused by mutation in KLHL40 OMIM:615348|UMLS:C3809209|DOID:0110930|NCIT:C129871|Orphanet:607 owl:Class HGNC:30372 biolink:NamedThing KLHL40 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008918 biolink:NamedThing carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. tmpte7i6ely_mondo_relaxed.owl carnitine-acylcarnitine translocase deficiency|Cact deficiency|CARNITINE-acylcarnitine translocase deficiency|CACT deficiency|CACTD NCIT:C133086|GARD:0001123|OMIM:212138|MESH:C562812|SCTID:238003000|Orphanet:159|UMLS:C0342791|DOID:0111585|ICD10:E71.3 https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency owl:Class HGNC:1421 biolink:NamedThing SLC25A20 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002440 biolink:NamedThing production of molecular mediator of immune response The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl production of cellular mediator of immune response owl:Class UBERON:0013156 biolink:NamedThing 1st arch mandibular endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:766 biolink:NamedThing Rickettsiales tmpte7i6ely_mondo_relaxed.owl alpha-1 proteobacteria|rickettsias GC_ID:11|PMID:11760958|PMID:8240958 ncbi_taxonomy owl:Class UBERON:0011820 biolink:NamedThing atrioventricular region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005939 biolink:NamedThing Reoviridae infectious disease Infections produced by reoviruses, general or unspecified. tmpte7i6ely_mondo_relaxed.owl Reovirus infections|infections, Reoviridae|infection, Reoviridae|Reoviridae infection|Reovirus infection|infections, Reovirus|infection, Reovirus EFO:0007464|UMLS:C0035112|MESH:D012088 owl:Class UBERON:0001307 biolink:NamedThing capsule of ovary tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q11-q13 biolink:NamedThing 15q11-q13 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0000598 biolink:NamedThing aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. tmpte7i6ely_mondo_relaxed.owl DOID:0060046|ICD10:R47.01 owl:Class HP:0002300 biolink:NamedThing Mutism tmpte7i6ely_mondo_relaxed.owl Inability to speak|Muteness UMLS:C0026884|MSH:D009155|SNOMEDCT_US:88052002 human_phenotype owl:Class ENVO:02000099 biolink:NamedThing coal dust Dust which is derived from coal. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010152 biolink:NamedThing trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. tmpte7i6ely_mondo_relaxed.owl eyelashes, long, with intellectual disability|trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|eyelashes, long, with mental retardation|Oliver McFarlane syndrome|OMCS|trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina|Oliver-McFarlane syndrome|long eyelashes-intellectual disability syndrome|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|eyelashes, long with intellectual disability SCTID:719944006|UMLS:C1848745|DOID:0111271|MESH:C536554|OMIM:275400|GARD:0005266|Orphanet:3363 owl:Class HGNC:10387 biolink:NamedThing RPS14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003034 biolink:NamedThing mediastinum angiosarcoma A malignant vascular neoplasm arising from the mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinal angiosarcoma|angiosarcoma of the mediastinum|hemangiosarcoma of the mediastinum|mediastinum angiosarcoma (disease)|hemangiosarcoma of mediastinum|mediastinal hemangiosarcoma|angiosarcoma of mediastinum|angiosarcoma (disease) of mediastinum UMLS:C1334649|DOID:4525|NCIT:C6613 owl:Class GO:0051038 biolink:NamedThing negative regulation of transcription involved in meiotic cell cycle Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl meiotic repression of transcription|down regulation of transcription during meiosis|negative regulation of transcription, meiotic|downregulation of transcription during meiosis|inhibition of transcription during meiosis|down-regulation of transcription during meiosis|negative regulation of meiotic transcription owl:Class HGNC:9936 biolink:NamedThing OPN1LW tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007257 biolink:NamedThing intervertebral disk of sacral vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005797 biolink:NamedThing HIV wasting syndrome Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). tmpte7i6ely_mondo_relaxed.owl UMLS:C0343755|MESH:D019247|EFO:0007312|Orphanet:90081 owl:Class HP:0004326 biolink:NamedThing Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. tmpte7i6ely_mondo_relaxed.owl Wasting syndrome SNOMEDCT_US:285384003|UMLS:C0006625|SNOMEDCT_US:238108007|MSH:D002100 peter 2008-02-27T03:23:00Z human_phenotype owl:Class ENVO:01000798 biolink:NamedThing plasma A material entity which is composed of a volume of unbound positive and negative particles in roughly equal numbers, conducts electricity, and possesses internal magnetic fields. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033363 biolink:NamedThing secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. tmpte7i6ely_mondo_relaxed.owl secretory granule organization and biogenesis|secretory granule organisation owl:Class MONDO:0012930 biolink:NamedThing autosomal recessive severe congenital neutropenia due to G6PC3 deficiency tmpte7i6ely_mondo_relaxed.owl neutropenia, severe congenital, 4, autosomal recessive|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|SCN4|autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|severe congenital neutropenia type 4|pulmonary arterial hypertension, leukopenia, and atrial septal defect|Dursun syndrome Orphanet:331176|OMIM:612541|ICD10:D70|UMLS:C2675526 owl:Class CL:0000896 biolink:NamedThing activated CD4-positive, alpha-beta T cell A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive. tmpte7i6ely_mondo_relaxed.owl activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T-lymphocyte|activated CD4-positive, alpha-beta T lymphocyte cell owl:Class CL:0000895 biolink:NamedThing naive thymus-derived CD4-positive, alpha-beta T cell An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low. tmpte7i6ely_mondo_relaxed.owl naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|Th0|naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive CD4+ T cell|T.4Nve.Sp|naive thymus-derived CD4-positive, alpha-beta T-cell These cells have not been exposed to antigen following thymic T-cell selection; found in blood and secondary lymphoid organs. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD4+ T cell', but includes additional markers known to be expressed on naive CD4+ T cells. cell owl:Class MONDO:0003458 biolink:NamedThing uterine corpus adenofibroma A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core. tmpte7i6ely_mondo_relaxed.owl adenofibroma of the body of uterus|body of uterus adenofibroma|adenofibroma of uterine body|adenofibroma of the corpus uteri|adenofibroma of the uterine corpus|adenofibroma of uterine corpus|adenofibroma of body of uterus|corpus uteri adenofibroma|uterine body adenofibroma|adenofibroma of the uterine body|adenofibroma of corpus uteri NCIT:C6337|DOID:5475|UMLS:C1336901 owl:Class MONDO:0006751 biolink:NamedThing Erysipelothrix infectious disease Infections with bacteria of the genus erysipelothrix. tmpte7i6ely_mondo_relaxed.owl infections, Erysipelothrix|Erysipelothrix infection|Erysipelothrix disease or disorder|infection, Erysipelothrix|Erysipelothrix caused disease or disorder UMLS:C0014736|SCTID:367434002|MESH:D004889|EFO:1000927 owl:Class MONDO:0004582 biolink:NamedThing rheumatic myocarditis Inflammation of the myocardium in acute rheumatic heart disease. tmpte7i6ely_mondo_relaxed.owl rheumatic degeneration of myocardium|acute rheumatic carditis|acute rheumatic myocarditis|rheumatic fever with myocarditis|acute rheumatic myocarditis (disorder) [ambiguous]|rheumatic myocarditis|active rheumatic fever with myocarditis|rheumatoid myocarditis ICD9:398.0|ICD10:M05.3|SCTID:195136004|ICD10:I01.9|ICD10:I09.0|UMLS:C0155557|ICD9:391.9|NCIT:C35202|DOID:8481 owl:Class UBERON:0001217 biolink:NamedThing ileal vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26193 biolink:NamedThing CSPP1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003856 biolink:NamedThing uncondensed odontogenic mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004699 biolink:NamedThing outflow tract endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030885 biolink:NamedThing regulation of myeloid dendritic cell activation Any process that modulates the frequency or rate of myeloid dendritic cell activation. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004406 biolink:NamedThing distal epiphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007983 biolink:NamedThing Schmid metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. tmpte7i6ely_mondo_relaxed.owl metaphyseal chondrodysplasia Schmid type|MCDS|spondylometaphyseal dysplasia, Japanese type|Schmid type metaphyseal dysplasia|metaphyseal chondrodysplasia, Schmid type|Japanese type spondylometaphyseal dysplasia ICD10:Q78.5|GARD:0007029|MESH:C537352|OMIM:156500|SCTID:29248006|DOID:0080021|Orphanet:174 owl:Class MONDO:0006417 biolink:NamedThing small intestinal diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestinal diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine|small intestine diffuse large B-cell lymphoma EFO:1000534|NCIT:C96055|UMLS:C3272522 owl:Class MONDO:0011781 biolink:NamedThing spinocerebellar ataxia type 17 A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. tmpte7i6ely_mondo_relaxed.owl SCA 17|olivopontocerebellar atrophy type 5|olivopontocerebellar atrophy 5|spinocerebellar ataxia 17|OPCA V|SCA17|spinocerebellar ataxia type 17|OPCA with dementia and extrapyramidal signs|Huntington disease-like 4|olivopontocerebellar atrophy V|HDL4 OMIM:607136|MESH:C563505|MESH:C564616|SCTID:719249005|Orphanet:98759|UMLS:C1846707|ICD10:G11.8|OMIM:164700|UMLS:C1833995|GARD:0010469|DOID:0050967 owl:Class NCBITaxon:12080 biolink:NamedThing Human poliovirus 1 tmpte7i6ely_mondo_relaxed.owl Poliovirus type 1|PV1|HPV-1|Poliovirus 1|Polio virus 1|Human poliovirus type 1|poliovirus type 1 PV1 GC_ID:1 ncbi_taxonomy owl:Class HGNC:21157 biolink:NamedThing GTF2H5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006950 biolink:NamedThing response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl response to biotic stress|response to abiotic stress owl:Class MONDO:0006598 biolink:NamedThing phototoxic dermatitis Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. tmpte7i6ely_mondo_relaxed.owl Photosensitisation reaction|photosensitiveness|photosensitivity reaction|photosensitive dermatitis|Photodermatitis EFO:1000753|NCIT:C4816|MESH:D017484|Wikipedia:Photodermatitis|SCTID:53597009|UMLS:C0162830|DOID:4407 owl:Class ECTO:0000006 biolink:NamedThing exposure to ultraviolet radiation A exposure event involving the interaction of an exposure receptor to ultraviolet radiation. tmpte7i6ely_mondo_relaxed.owl ultraviolet radiation exposure owl:Class MONDO:0005927 biolink:NamedThing polyomavirus infectious disease Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). tmpte7i6ely_mondo_relaxed.owl MESH:D027601|EFO:0007451|UMLS:C0949804 owl:Class NCBITaxon:36362 biolink:NamedThing Polyomavirus sp. tmpte7i6ely_mondo_relaxed.owl Polyomavirus|Polyomaviruses GC_ID:1 NCBITaxon:10624 ncbi_taxonomy owl:Class Nb008eb0daa474cf6a56cf8d298f4ac2d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0001584 biolink:NamedThing left subclavian artery tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003027 biolink:NamedThing Mesomelia Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. tmpte7i6ely_mondo_relaxed.owl Mesomelic limb shortening|Mesomelic shortening of limbs|Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb UMLS:C0549306 Shortening of the limbs where the predominant shortness is in the middle bones. human_phenotype owl:Class MONDO:0003899 biolink:NamedThing adult myxoid chondrosarcoma A myxoid chondrosarcoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult myxoid chondrosarcoma|myxoid chondrosarcoma of adults NCIT:C27378|UMLS:C1332209|DOID:6495 owl:Class GO:0002659 biolink:NamedThing negative regulation of peripheral tolerance induction Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction. tmpte7i6ely_mondo_relaxed.owl downregulation of peripheral tolerance induction|inhibition of peripheral tolerance induction|down regulation of peripheral tolerance induction|down-regulation of peripheral tolerance induction owl:Class GO:0002465 biolink:NamedThing peripheral tolerance induction Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410035 biolink:NamedThing medullary arteriole of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410034 biolink:NamedThing lymph node artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001838 biolink:NamedThing embryonic epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014371 biolink:NamedThing future telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014563 biolink:NamedThing mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency tmpte7i6ely_mondo_relaxed.owl mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|short-chain enoyl-CoA hydratase deficiency|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency|ECHS1D Orphanet:506|GARD:0013019|OMIM:616277|UMLS:C4225391 owl:Class HGNC:3151 biolink:NamedThing ECHS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2073 biolink:NamedThing TPP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002761 biolink:NamedThing cervical verrucous carcinoma A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. tmpte7i6ely_mondo_relaxed.owl cervical verrucous carcinoma|uterine cervix verrucous carcinoma DOID:3743|UMLS:C1516435|NCIT:C40190 owl:Class UBERON:0007602 biolink:NamedThing stratified columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015645 biolink:NamedThing eating seizures tmpte7i6ely_mondo_relaxed.owl eating reflex epilepsy|eating epilepsy Orphanet:166418|SCTID:230450001|ICD10:G40.8|UMLS:C0393725 owl:Class GO:0004749 biolink:NamedThing ribose phosphate diphosphokinase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). tmpte7i6ely_mondo_relaxed.owl PPRibP synthetase activity|phosphoribosylpyrophosphate synthetase activity|phosphoribosyl pyrophosphate synthetase activity|5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity|phosphoribosyl diphosphate synthetase activity|ribose-phosphate diphosphokinase activity|ribophosphate pyrophosphokinase activity|5-phosphoribosyl-1-pyrophosphate synthetase activity|ATP:D-ribose-5-phosphate diphosphotransferase activity|5-phosphoribose pyrophosphorylase activity|ribose-phosphate pyrophosphokinase activity|PP-ribose P synthetase activity|PRPP synthetase activity|phosphoribosyl-diphosphate synthetase activity|pyrophosphoribosylphosphate synthetase activity|ribose-5-phosphate pyrophosphokinase activity|phosphoribosylpyrophosphate synthase activity owl:Class MONDO:0014193 biolink:NamedThing primary ciliary dyskinesia 23 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. tmpte7i6ely_mondo_relaxed.owl CILD23|ARMC4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 23|primary ciliary dyskinesia type 23|ciliary dyskinesia, primary, 23, with or without situs inversus|primary ciliary dyskinesia caused by mutation in ARMC4|primary ciliary dyskinesia 23 with or without situs inversus|ciliary dyskinesia, primary, 23 UMLS:C3809548|ICD10:Q34.8|Orphanet:244|DOID:0110609|OMIM:615451 owl:Class HGNC:25583 biolink:NamedThing ODAD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012960 biolink:NamedThing intellectual disability, autosomal dominant 5 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 5|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism|intellectual disability, autosomal dominant 5|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|autosomal dominant non-syndromic intellectual disability 5|SYNGAP1-related non-syndromic intellectual disability|SYNGAP1-related NSID|MRD5|mental retardation, autosomal dominant 5|intellectual disability, autosomal dominant type 5|autosomal dominant intellectual disability 5|SYNGAP1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 5|SYNGAP1 syndrome OMIM:612621|UMLS:C2675473|MESH:C567234|GARD:0012558|DOID:0070035 owl:Class HGNC:3602 biolink:NamedThing FBLN5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13666 biolink:NamedThing AAAS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014875 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004319 biolink:NamedThing distal phalanx of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011390 biolink:NamedThing focal segmental glomerulosclerosis 2 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. tmpte7i6ely_mondo_relaxed.owl focal segmental glomerulosclerosis 2|FSGS2|glomerulosclerosis, focal segmental, 2|TRPC6 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in TRPC6|focal segmental glomerulosclerosis type 2 ICD10:N04.1|UMLS:C1858915|OMIM:603965|DOID:0111129|MESH:C565831 owl:Class HGNC:12338 biolink:NamedThing TRPC6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000933 biolink:NamedThing pharyngeal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009372 biolink:NamedThing encephalopathy due to hydroxykynureninuria Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. tmpte7i6ely_mondo_relaxed.owl kynureninase deficiency, partial|kynureninase deficiency|Xanthurenic aciduria|hydroxykynureninuria Orphanet:79155|MESH:C536081|UMLS:C0268474|ICD10:E70.8|OMIM:236800|SCTID:72945002|ICD9:270.2|GARD:0010039 owl:Class HGNC:6469 biolink:NamedThing KYNU tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051464 biolink:NamedThing positive regulation of cortisol secretion Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell. tmpte7i6ely_mondo_relaxed.owl upregulation of cortisol secretion|up-regulation of cortisol secretion|up regulation of cortisol secretion|stimulation of cortisol secretion|activation of cortisol secretion owl:Class MONDO:0011915 biolink:NamedThing mitral valve prolapse, myxomatous 2 tmpte7i6ely_mondo_relaxed.owl MMVP2|mitral valve prolapse, myxomatous 2|mitral valve prolapse 2|myxomatous mitral valve prolapse 2|MVP2 UMLS:C1843003|MESH:C564326|OMIM:607829 owl:Class HGNC:9451 biolink:NamedThing PROC tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000908 biolink:NamedThing CD8-positive, alpha-beta cytokine secreting effector T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines. tmpte7i6ely_mondo_relaxed.owl CD8-positive, alpha-beta cytokine secreting effector T lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T-cell|CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte cell owl:Class MONDO:0011614 biolink:NamedThing 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. tmpte7i6ely_mondo_relaxed.owl 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency|3-hydroxy-3-methylglutaryl-CoA synthase deficiency|HMGCS2D|HMG-CoA synthase deficiency|Hmgcs2 deficiency|HMG CoA synthetase deficiency|mitochondrial HMG-Coa synthase deficiency GARD:0002712|ICD10:E71.3|Orphanet:35701|OMIM:605911|SCTID:725286002|UMLS:C2751532|MESH:C567784 owl:Class HGNC:5008 biolink:NamedThing HMGCS2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008882 biolink:NamedThing spinal cord commissure tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003552 biolink:NamedThing Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. tmpte7i6ely_mondo_relaxed.owl UMLS:C0221170|SNOMEDCT_US:16046003 HP:0009014 human_phenotype owl:Class UBERON:0000975 biolink:NamedThing sternum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003252 biolink:NamedThing thoracic rib cage tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031987 biolink:NamedThing locomotion involved in locomotory behavior Self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpte7i6ely_mondo_relaxed.owl locomotion during locomotory behaviour owl:Class UBERON:0004142 biolink:NamedThing outflow tract septum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005764 biolink:NamedThing lysosome A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012848 biolink:NamedThing Meckel syndrome, type 6 Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. tmpte7i6ely_mondo_relaxed.owl CC2D2A Meckel syndrome|Meckel syndrome caused by mutation in CC2D2A|Meckel-Gruber syndrome, type 6|Meckel syndrome 6|MKS6|Meckel syndrome, type 6 DOID:0070120|UMLS:C2676790|Orphanet:564|ICD10:Q61.9|OMIM:612284|MESH:C567365 owl:Class UBERON:0001289 biolink:NamedThing descending limb of loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17582 biolink:NamedThing KAT6B tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:73263 biolink:NamedThing cyclooxygenase 3 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3. tmpte7i6ely_mondo_relaxed.owl COX-3 inhibitors|cyclo-oxygenase 3 inhibitor|COX-3 inhibitor|cyclooxygenase-3 inhibitors|cyclo-oxygenase 3 inhibitors|cyclooxygenase-3 inhibitor|cyclooxygenase 3 inhibitors owl:Class GO:0045947 biolink:NamedThing negative regulation of translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. tmpte7i6ely_mondo_relaxed.owl downregulation of translational initiation|down regulation of translational initiation|down-regulation of translational initiation|inhibition of translational initiation owl:Class UBERON:0026246 biolink:NamedThing sacral spinal cord white matter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010905 biolink:NamedThing clavicle bone primordium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013750 biolink:NamedThing atrial septal defect 8 Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene. tmpte7i6ely_mondo_relaxed.owl atrial heart septal defect caused by mutation in CITED2|atrial septal defect 8|atrial heart septal defect type 8|atrial septal defect type 8|ASD8|CITED2 atrial heart septal defect OMIM:614433|DOID:0110113|ICD10:Q21.1|Orphanet:1478 owl:Class HGNC:886 biolink:NamedThing ATRX tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9910 biolink:NamedThing RBMX tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050892 biolink:NamedThing intestinal absorption Any process in which nutrients are taken up from the contents of the intestine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018261 biolink:NamedThing Nevada syndrome NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. tmpte7i6ely_mondo_relaxed.owl Nevus epidermicus verrucosus with angiodysplasia and aneurysms Orphanet:370059|UMLS:CN204836|ICD10:Q84.8 owl:Class UBERON:0014478 biolink:NamedThing rib skeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004534 biolink:NamedThing microglandular adenosis of breast A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia. tmpte7i6ely_mondo_relaxed.owl breast microglandular adenosis|microglandular adenosis of the breast NCIT:C5199|UMLS:C1334753|DOID:8335 owl:Class MONDO:0017874 biolink:NamedThing Argentine hemorrhagic fever Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. tmpte7i6ely_mondo_relaxed.owl Argentinian hemorrhagic fever|Junin hemorrhagic fever Orphanet:319223|DOID:0050194|UMLS:C0019097|SCTID:58868000|ICD10:A96.0 owl:Class MONDO:0009515 biolink:NamedThing Norum disease Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. tmpte7i6ely_mondo_relaxed.owl FLD|familial LCAT deficiency|complete LCAT deficiency|lecithin:cholesterol acyltransferase deficiency|lecithin acyltransferase deficiency|Norum disease|LCAT deficiency OMIM:245900|NCIT:C84813|DOID:1391|SCTID:49227001|SCTID:238091006|Orphanet:79293|ICD10:E78.6|UMLS:CN205883|GARD:0004011|Orphanet:650 owl:Class HGNC:6522 biolink:NamedThing LCAT tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11231 biolink:NamedThing ATL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001498 biolink:NamedThing varicocele A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. tmpte7i6ely_mondo_relaxed.owl scrotal varices|scrotum varicose disease|varicose disease of scrotum DOID:12337|ICD9:456.4|UMLS:C0042341|ICD10:I86.1|SCTID:46871008|MESH:D014646 owl:Class MONDO:0012662 biolink:NamedThing Usher syndrome type 2D Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. tmpte7i6ely_mondo_relaxed.owl Usher syndrome, type 2D|WHRN Usher syndrome|USH2D|Usher syndrome type 2D|Usher syndrome type IID|Usher syndrome caused by mutation in WHRN|USHER syndrome, type IID DOID:0110840|Orphanet:231178|OMIM:611383|Orphanet:886|ICD10:H35.5 owl:Class HGNC:16361 biolink:NamedThing WHRN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003654 biolink:NamedThing metatarsal bone of digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013355 biolink:NamedThing congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. tmpte7i6ely_mondo_relaxed.owl congenital dyserythropoietic anemia due to KLF1 mutation|CDA due to KLF1 mutation|CDA type 4|anemia, congenital dyserythropoietic, type IV|CDA, type 4|CDA IV|congenital dyserythropoietic anemia type 4|CDAN4|CDA type IV|anemia, congenital dyserythropoietic, type 4 SCTID:719453009|OMIM:613673|UMLS:C3150926|DOID:0111400|ICD10:D64.4|Orphanet:293825 owl:Class HGNC:6345 biolink:NamedThing KLF1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:48854 biolink:NamedThing sulfurous acid tmpte7i6ely_mondo_relaxed.owl trioxosulfuric acid|[SO(OH)2]|H2SO3|acide sulfureux|Sulfite|acido sulfuroso|schweflige Saeure|S(O)(OH)2|Sulfurous acid|dihydroxidooxidosulfur|dihydrogen trioxosulfate|sulphurous acid|sulfurous acid owl:Class ENVO:01000313 biolink:NamedThing anthropogenic environment An anthropogenic environment is an environmental system which is the product of human activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014093 biolink:NamedThing retinitis pigmentosa 66 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in RBP3|retinitis pigmentosa type 66|RBP3 retinitis pigmentosa|retinitis pigmentosa 66|RP66 Orphanet:791|DOID:0110393|UMLS:C3715216|OMIM:615233|ICD10:H35.5 owl:Class HGNC:9921 biolink:NamedThing RBP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008226 biolink:NamedThing periodontitis, aggressive 1 A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. tmpte7i6ely_mondo_relaxed.owl periodontitis, prepubertal|periodontitis, aggressive, type 1|periodontitis, aggressive, 1|juvenile periodontitis|periodontitis, juvenile OMIM:170650|ICD9:523.5|ICD10:K05.2|MESH:D010520|DOID:1474|UMLS:C0031106|EFO:0006342|OMIM:608526 owl:Class UBERON:0035177 biolink:NamedThing abdominal part of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006196 biolink:NamedThing endometrial serous adenocarcinoma A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl endometrial serous adenocarcinoma|uterine serous carcinoma|uterine serous adenocarcinoma|uterine papillary serous carcinoma|uterine serous papillary adenocarcinoma|serous endometrial adenocarcinoma|uterine corpus serous adenocarcinoma NCIT:C27838|EFO:1000238 owl:Class MONDO:0014586 biolink:NamedThing congenital myasthenic syndrome 4B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. tmpte7i6ely_mondo_relaxed.owl CMS4B|myasthenic syndrome, congenital, 4B, FAST-channel|congenital myasthenic syndrome type 4B|congenital myasthenic syndrome 4B fast-channel OMIM:616324|DOID:0110677|UMLS:C4225369|Orphanet:590 owl:Class MONDO:0008783 biolink:NamedThing Tangier disease Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. tmpte7i6ely_mondo_relaxed.owl Analphalipoproteinemia|Alpha high density lipoprotein deficiency disease|high density lipoprotein deficiency, type 1|A-alphalipoprotein neuropathy|familial high density lipoprotein deficiency|ATP-binding cassette transporter A1 deficiency|defective adenosine triphosphate-binding cassette transporter A1|Tangier disease|high density lipoprotein deficiency, Tangier type|familial alpha-lipoprotein deficiency|cholesterol thesaurismosis|tgd|HDLDT1|Analphalipo-proteinemia|familial high density lipoprotein deficiency disease|familial Hypoalphalipo-proteinemia|HDL lipoprotein deficiency disease SCTID:723579009|OMIM:205400|Orphanet:31150|DOID:1388|UMLS:C0039292|ICD10:E78.6|MedDRA:10051875|GARD:0007731|MESH:D013631|NCIT:C85182 owl:Class HGNC:29 biolink:NamedThing ABCA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016525 biolink:NamedThing frontal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024651 biolink:NamedThing corticosteroid-induced osteoporosis tmpte7i6ely_mondo_relaxed.owl osteoporosis caused by corticosteroid|osteoporosis due to corticosteroid ICD9:733.09|UMLS:C1272167|SCTID:390833005 owl:Class GO:0022602 biolink:NamedThing ovulation cycle process A process involved in the sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. tmpte7i6ely_mondo_relaxed.owl estrous cycle process|menstrual cycle process owl:Class MONDO:0034103 biolink:NamedThing infection-related hemolytic uremic syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:544482 owl:Class MONDO:0012157 biolink:NamedThing congenital myasthenic syndrome 4C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, type Id|CMS4C|CMS Id|Cms Id|congenital myasthenic syndrome type Id|CMS1D|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency|myasthenia, familial infantile, 1, formerly|congenital myasthenic syndrome type 4C|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|familial infantile myasthenia 1|FIM1|myasthenia, familial infantile, 1|Cms Id, formerly OMIM:608931|DOID:0110679|GARD:0010108|Orphanet:590 owl:Class GO:0009081 biolink:NamedThing branched-chain amino acid metabolic process The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. tmpte7i6ely_mondo_relaxed.owl branched chain family amino acid metabolism owl:Class MONDO:0013985 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 18B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 18B|OTOG autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 18B|autosomal recessive nonsyndromic deafness type 18B|autosomal recessive nonsyndromic deafness caused by mutation in OTOG|deafness, autosomal recessive 18B|autosomal recessive deafness 18B|DFNB18B DOID:0110474|OMIM:614945|ICD10:H90.3|UMLS:C3554163 owl:Class HGNC:8516 biolink:NamedThing OTOG tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1955 biolink:NamedThing CHRNA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010282 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, X-linked tmpte7i6ely_mondo_relaxed.owl mycobacterium tuberculosis, susceptibility to, X-linked|MTBSX OMIM:300259 owl:Class HGNC:613 biolink:NamedThing APOE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001673 biolink:NamedThing diarrheal disease The condition of having at least three loose or liquid bowel movements each day. tmpte7i6ely_mondo_relaxed.owl diarrhoea|loose stools|diarrheal disease|frequent stools|diarrheal disorder|diarrhea of presumed infectious origin|diarrhea HP:0002014|NCIT:C2987|ICD9:009.2|DOID:13250|SCTID:128333008|MESH:D003967 owl:Class UBERON:0011588 biolink:NamedThing pre-enamel tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000059 biolink:NamedThing ameloblast Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell. tmpte7i6ely_mondo_relaxed.owl enamel secreting cell|amelocyte FMA:70576|BTO:0001663 non-encoded relationship from VSAO produces VSAO:0000066 CL:0000139|CL:0000053 cell owl:Class MONDO:0010222 biolink:NamedThing X-linked Opitz G/BBB syndrome X-linked form of Opitz G/BBB syndrome. tmpte7i6ely_mondo_relaxed.owl Opitz GBBB syndrome, type I|hypertelorism-hypospadias syndrome|Opitz G/BBB syndrome, X-linked|X-linked Opitz syndrome|hypertelorism with esophageal Abnormality and hypospadias|XLOS|Opitz syndrome, X-linked|Opitz GBBB syndrome, type 1|Opitz syndrome|X-linked Opitz G/BBB syndrome|GBBB1|Opitz GBBB syndrome, X-linked|telecanthus-hypospadias syndrome|X-linked Opitz BBB/G syndrome|Opitz-G syndrome, type 1|Opitz Bbbg syndrome, type 1 OMIM:300000|ICD10:Q87.8|Orphanet:306597|Orphanet:2745 owl:Class MONDO:0009738 biolink:NamedThing sialidosis type 2 A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. tmpte7i6ely_mondo_relaxed.owl glycoproteinosis|dysmorphic sialidosis|Neu deficiency|sialidosis type II|ML1|dysmorphic sialidosis with renal involvement|Neu1 deficiency|Neug deficiency|sialidosis caused by mutation in NEU1|sialidosis, type II|sialidosis|mucolipidosis type I|mucolipidosis 1|sialidosis, type 2|ML 1|NEU 1 deficiency|sialidosis, type 1|myoclonus--cherry Red spot syndrome|neuraminidase 1 deficiency|lipomucopolysaccharidosis|nephrosialidosis|mucolipidosis type 1|mucolipidosis I|glycoprotein neuraminidase deficiency|neuraminidase deficiency|sialidase deficiency|cherry Red spot--myoclonus syndrome|NEU1 sialidosis|infantile dysmorphic sialidosis MESH:C562606|SCTID:81896006|OMIM:256550|OMIM:256150|UMLS:CN206285|NCIT:C125596|SCTID:52186006|DOID:3343|UMLS:C0023806|NCIT:C61267|UMLS:C0268232|ICD10:E77.1|Orphanet:812|SCTID:70528007|UMLS:C3888317|Orphanet:87876|GARD:0007183|UMLS:C0026697 https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 owl:Class MONDO:0002331 biolink:NamedThing nephrosis Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. tmpte7i6ely_mondo_relaxed.owl Nephroses MESH:D009401|UMLS:C0027720|DOID:2527|SCTID:90708001 owl:Class MONDO:0021969 biolink:NamedThing Banti syndrome A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages. tmpte7i6ely_mondo_relaxed.owl idiopathic congestive splenomegaly|Banti's syndrome|Banti's disease|idiopathic portal hypertension GARD:0005888|MESH:C537903 https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome owl:Class MONDO:0001529 biolink:NamedThing pancytopenia A finding of low numbers of red and white blood cells and platelets in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl ICD9:284.1|ICD9:284.89|UMLS:C0030312|MESH:D010198|DOID:12450|NCIT:C34889|ICD10:D61.81|SCTID:127034005 owl:Class MONDO:0005005 biolink:NamedThing clear cell renal carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. tmpte7i6ely_mondo_relaxed.owl clear cell carcinoma of kidney|kidney clear cell carcinoma|renal clear cell carcinoma|clear cell adenocarcinoma of kidney|clear cell kidney carcinoma|conventional (clear cell) renal cell adenocarcinoma|clear cell renal cell carcinoma|clear-cell metastatic renal cell carcinoma|RCC, clear cell adenocarcinoma|hypernephroma|clear cell adenocarcinoma, kidney|clear cell carcinoma of the kidney|clear cell adenocarcinoma of the kidney|conventional (clear cell) renal cell carcinoma|renal clear cell adenocarcinoma|renal cell carcinoma, clear cell adenocarcinoma|conventional renal cell carcinoma|Grawitz tumor|clear cell renal cell cancer|kidney clear cell adenocarcinoma NCIT:C4033|GARD:0009574|EFO:0000349|MESH:D002292|ICD9:189.0|DOID:4467|Orphanet:319276|OMIM:144700|SCTID:254915003|ONCOTREE:CCRCC owl:Class MONDO:0020705 biolink:NamedThing neural tube defects, susceptibility to tmpte7i6ely_mondo_relaxed.owl spina bifida|neural tube defects, SUSCEPTIBILITY to|NTD OMIM:182940 owl:Class UBERON:0000101 biolink:NamedThing lobe of lung tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016658 biolink:NamedThing 8p23.1 microdeletion syndrome 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. tmpte7i6ely_mondo_relaxed.owl deletion 8p23.1|Del(8)(p23.1)|8p23.1 deletion|monosomy 8p23.1|chromosome 8p23.1 deletion SCTID:716381003|ICD10:Q93.5|UMLS:CN201888|GARD:0003769|Orphanet:251071|MESH:C537827 owl:Class MONDO:0010494 biolink:NamedThing linear skin defects with multiple congenital anomalies 3 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11|linear skin defects with multiple congenital anomalies 3|NDUFB11 microphthalmia with linear skin defects syndrome|LSDMCA3|linear skin defects with multiple congenital anomalies type 3|linear skin defects with cardiomyopathy and Other congenital anomalies Orphanet:2556|OMIM:300952|UMLS:C4225421 owl:Class HGNC:20372 biolink:NamedThing NDUFB11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005779 biolink:NamedThing hand, foot and mouth disease A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. tmpte7i6ely_mondo_relaxed.owl hand foot and mouth disease|hand, foot, and mouth disease|HFMD|vesicular stomatitis and exanthem MESH:D006232|UMLS:C0018572|DOID:10881|SCTID:266108008|EFO:0007294|ICD9:074.3|ICD10:B08.4|NCIT:C128439 owl:Class CL:0000348 biolink:NamedThing choroidal cell of the eye A cell of the choroid of the eye. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0000008 biolink:NamedThing migratory cranial neural crest cell Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0014459 biolink:NamedThing Adams-Oliver syndrome 5 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. tmpte7i6ely_mondo_relaxed.owl Adams-Oliver syndrome caused by mutation in NOTCH1|AOS5|Adams-Oliver syndrome caused by mutation in Notch1|Notch1 Adams-Oliver syndrome|Adams-Oliver syndrome 5|NOTCH1 Adams-Oliver syndrome|Adams-Oliver syndrome type 5 OMIM:616028|Orphanet:974|UMLS:C4014970 owl:Class HGNC:7881 biolink:NamedThing NOTCH1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:30099 biolink:NamedThing diazynediium tmpte7i6ely_mondo_relaxed.owl HNNH(2+)|[HNNH](2+)|diazynediium owl:Class CHEBI:30102 biolink:NamedThing diazynium tmpte7i6ely_mondo_relaxed.owl HN2+|N#NH(+)|diazynium owl:Class MONDO:0010265 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. tmpte7i6ely_mondo_relaxed.owl lethal variant of Simpson-Golabi-Behmel syndrome|OFD1 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1|Simpson-Golabi-Behmel syndrome, type 2|SGBS2|Sgbs2 UMLS:C1846175|MESH:C564567|ICD10:Q87.3|Orphanet:79022|DOID:0080342|OMIM:300209 owl:Class UBERON:8410015 biolink:NamedThing arteriole of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021420 biolink:NamedThing polyp of vocal cord A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. tmpte7i6ely_mondo_relaxed.owl vocal cord polyp|laryngeal vocal fold polyp|polyp of the vocal cord NCIT:C3440|UMLS:C0042929|SCTID:9078005 owl:Class MONDO:0009503 biolink:NamedThing pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. tmpte7i6ely_mondo_relaxed.owl pyruvate dehydrogenase E3-binding PROTEIN deficiency|pyruvate dehydrogenase E3-binding protein deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex|lipoamide dehydrogenase deficiency|dihydrolipoyl dehydrogenase deficiency|pyruvate dehydrogenase protein X component deficiency|pyruvate dehydrogenase complex component E3 deficiency|diaphorase deficiency|2-oxoglutarate complex deficiency|Glycine cleavage system L protein deficiency|PDHXD UMLS:C1855553|ICD10:E74.4|Orphanet:765|Orphanet:255182|OMIM:245349 owl:Class HGNC:21350 biolink:NamedThing PDHX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013692 biolink:NamedThing BAP1-related tumor predisposition syndrome BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. tmpte7i6ely_mondo_relaxed.owl tumor predisposition syndrome|BAP1 tumor predisposition syndrome|BAP1-related tumor predisposition syndrome|TPDS|tumor susceptibility linked to germline BAP1 mutations OMIM:614327|SCTID:765057007|UMLS:C3280492|GARD:0013219|Orphanet:289539 owl:Class GO:0010256 biolink:NamedThing endomembrane system organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. tmpte7i6ely_mondo_relaxed.owl endomembrane system organisation|endomembrane organization owl:Class ENVO:01001053 biolink:NamedThing saline aerosol environment An environmental system which has its properties and dynamics determined by a saline aerosol. tmpte7i6ely_mondo_relaxed.owl owl:Class Nc1921623e0d14734bd4753ad2162330b biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014112 biolink:NamedThing cardiofaciocutaneous syndrome 2 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene. tmpte7i6ely_mondo_relaxed.owl cardiofaciocutaneous syndrome caused by mutation in kras|kras cardiofaciocutaneous syndrome|KRAS cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome type 2|CFC2|cardiofaciocutaneous syndrome 2|cardiofaciocutaneous syndrome caused by mutation in KRAS OMIM:615278|Orphanet:1340|UMLS:C3809005|DOID:0111461 owl:Class HGNC:26558 biolink:NamedThing HYLS1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000231 biolink:NamedThing lava Lava is a mixture of molten or semi-molten rock, volatiles, and solids which has extruded beyond a planetary crust. tmpte7i6ely_mondo_relaxed.owl owl:Class Nc44ea83e410e43f88aaab7c825217dd8 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0035881 biolink:NamedThing ethmoidomaxillary suture tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020666 biolink:NamedThing Löfgren syndrome A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain. tmpte7i6ely_mondo_relaxed.owl Löfgrens syndrome|Loefgrens syndrome SCTID:238676008 owl:Class MONDO:0007937 biolink:NamedThing renal hypomagnesemia 2 Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. tmpte7i6ely_mondo_relaxed.owl magnesium loss, isolated renal|isolated renal magnesium wasting|autosomal dominant primary hypomagnesemia with hypocalciuria|renal hypomagnesemia type 2|FXYD2 familial primary hypomagnesemia|isolated autosomal dominant hypomagnesemia|familial primary hypomagnesemia caused by mutation in FXYD2|magnesium wasting, renal|primary hypomagnesemia caused by mutation in FXYD2|FXYD2 primary hypomagnesemia|hypomagnesemia 2, renal|HOMG2 DOID:0060885|OMIM:154020|UMLS:C1835171|UMLS:C4511005|GARD:0003350|ICD10:E83.4|Orphanet:34528|SCTID:725393000|MESH:C537152 https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 owl:Class HGNC:4026 biolink:NamedThing FXYD2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015888 biolink:NamedThing thiamine transport The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. tmpte7i6ely_mondo_relaxed.owl thiamin transport|vitamin B1 transport owl:Class GO:2000767 biolink:NamedThing positive regulation of cytoplasmic translation Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001260 biolink:NamedThing Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. tmpte7i6ely_mondo_relaxed.owl Dysarthric speech|Difficulty articulating speech MSH:D004401|UMLS:C0013362|SNOMEDCT_US:8011004 HP:0002327 human_phenotype owl:Class CL:0002103 biolink:NamedThing IgG-positive double negative memory B cell An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative. tmpte7i6ely_mondo_relaxed.owl IgG-positive double negative memory B-cell|IgG-positive dn memory B-lymphocyte|IgG-positive dn memory B-cell|IgG+ dn memory B-cell|IgG-positive double negative memory B lymphocyte|IgG+ dn memory B lymphocyte|IgG+ double negative memory B lymphocyte|IgG+ double negative memory B-cell|IgG+ dn memory B cell|IgG+ double negative memory B-lymphocyte|IgG-positive dn memory B lymphocyte|IgG+ double negative memory B cell|IgG-positive double negative memory B-lymphocyte|IgG-positive dn memory B cell|IgG+ dn memory B-lymphocyte cell owl:Class MONDO:0006227 biolink:NamedThing gastric neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic. tmpte7i6ely_mondo_relaxed.owl gastric carcinoid tumor|stomach carcinoid tumor|stomach neuroendocrine neoplasm G1|gastric ECL-cell carcinoid tumor|stomach neuroendocrine tumor, well differentiated, low grade|gastric enterochromaffin-like cell carcinoid tumor|gastric ECL cell, histamine-producing NET|gastric ECL cell NET|gastric ECL cell NET G1|gastric enterochromaffin-like cell neuroendocrine tumor|grade 1 neuroendocrine neoplasm of stomach|gastric NET G1|stomach NET G1 NCIT:C4635|EFO:1000275|UMLS:C0349529 owl:Class MONDO:0007514 biolink:NamedThing ectopia lentis 1, isolated, autosomal dominant Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene. tmpte7i6ely_mondo_relaxed.owl ectopia lentis 1, isolated, autosomal dominant|autosomal dominant isolated ectopia lentis 1|isolated ectopia lentis caused by mutation in FBN1|ECTOL1|FBN1 isolated ectopia lentis UMLS:C3541518|Orphanet:1885|url:https://www.ncbi.nlm.nih.gov/pubmed/15054843|OMIM:129600|DOID:0111150 owl:Class HGNC:3603 biolink:NamedThing FBN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010476 biolink:NamedThing neurodegeneration with brain iron accumulation 5 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. tmpte7i6ely_mondo_relaxed.owl neurodegeneration with brain iron accumulation caused by mutation in WDR45|SENDA|WDR45 neurodegeneration with brain iron accumulation|beta-propeller protein-associated neurodegeneration|static encephalopathy of childhood with neurdegeneration in adulthood|neurodegeneration with brain iron accumulation 5|static encephalopathy Of childhood with neurodegeneration In adulthood|static encephalopathy of childhood with neurodegeneration in adulthood|neurodegeneration with brain iron accululation 5|neurodegeneration with brain iron accumulation type 5|NBIA5|BPAN UMLS:CN168656|SCTID:732959007|GARD:0012570|Orphanet:329284|UMLS:C3550973|ICD10:G23.0|DOID:0110739|OMIM:300894 owl:Class HGNC:28912 biolink:NamedThing WDR45 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004988 biolink:NamedThing mucosa of cystic duct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001228 biolink:NamedThing renal papilla tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6029 biolink:NamedThing Microsporidia tmpte7i6ely_mondo_relaxed.owl Microspora|Microsporea|Microsporida|microsporidians PMID:17051209|PMID:12684019|PMID:10563021|PMID:28808018|PMID:12142484|GC_ID:1|PMID:9892676 NCBITaxon:6031|NCBITaxon:6030 ncbi_taxonomy owl:Class MONDO:0021183 biolink:NamedThing HTLV-2 infection tmpte7i6ely_mondo_relaxed.owl Human T lymphotropic Virus 2 Infection|HTLV-II Infection|Infections, HTLV-II|Human T lymphotropic Virus 2 Infections|HTLV-II Infections|Human T-lymphotropic virus 2 infection|HTLV-II infection|Human T-lymphotropic Virus 2 Infection|Infection, HTLV-II|INFECT HTLV II|HTLV II INFECT|Human T-lymphotropic Virus 2 Infections|Infections, HTLV II|HTLV-2 infection UMLS:C0020102|EFO:1001349|MESH:D015491|SCTID:425740005|GARD:0009783 owl:Class HP:0001650 biolink:NamedThing Aortic valve stenosis The presence of a stenosis (narrowing) of the aortic valve. tmpte7i6ely_mondo_relaxed.owl Valvular aortic stenosis|Aortic stenosis|Narrowing of aortic valve Fyler:1411|SNOMEDCT_US:60573004|MSH:D001024|UMLS:C0003507 Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. HP:0005140 human_phenotype owl:Class CL:1000409 biolink:NamedThing myocyte of sinoatrial node A muscle cell that is part of the sinoatrial node. tmpte7i6ely_mondo_relaxed.owl sinoatrial node cell|SA node cardiac muscle cell|sinuatrial node myocyte|myocyte of sinoatrial node|SA nodal myocyte|sinoatrial node myocyte FMA:67102 cell owl:Class UBERON:0001592 biolink:NamedThing bronchial vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014537 biolink:NamedThing nephronophthisis 19 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis type 19|DCDC2 nephronophthisis (disease)|nephronophthisis 19|nephronophthisis (disease) caused by mutation in DCDC2|NPHP19 DOID:0111126|OMIM:616217|UMLS:C4015542 owl:Class CL:2000041 biolink:NamedThing dermis microvascular lymphatic vessel endothelial cell Any dermis lymphatic vessel endothelial cell that is part of a microvascular endothelium. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-07-09T00:09:54Z cell owl:Class MONDO:0037847 biolink:NamedThing vertebral joint disorder A disease that involves the intervertebral joint. tmpte7i6ely_mondo_relaxed.owl intervertebral joint disease or disorder|disorder of intervertebral joint|intervertebral joint disease|disorder of joint of spine|disease or disorder of intervertebral joint|spondyloarthropathy|disease of intervertebral joint SCTID:372109003 owl:Class UBERON:0001468 biolink:NamedThing intervertebral joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017860 biolink:NamedThing methanol poisoning Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). tmpte7i6ely_mondo_relaxed.owl ICD10:T51.1|Orphanet:31825|UMLS:CN203895 owl:Class HGNC:186 biolink:NamedThing ADA tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36970 biolink:NamedThing vitamin B6 phosphate tmpte7i6ely_mondo_relaxed.owl vitamin B6 phosphates|vitamin B-6 phosphates owl:Class MONDO:0008995 biolink:NamedThing Yunis-Varon syndrome Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl YVS|Yunis-Varón syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varon syndrome|Yunis Varon syndrome UMLS:C1857663|OMIM:216340|GARD:0000331|DOID:0060589|Orphanet:3472|MESH:C536719|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome owl:Class HGNC:16873 biolink:NamedThing FIG4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010155 biolink:NamedThing Dorfman-Chanarin disease tmpte7i6ely_mondo_relaxed.owl ichthyosiform erythroderma with leukocyte vacuolation|Dorfman Chanarin syndrome|NLSDI|disorder of cornification 12 (neutral lipid storage type)|DCs|neutral Lipid storage disease with ichthyosis|ichthyotic neutral Lipid storage disease|neutral lipid storage disease with ichthyotic|CDS|neutral lipid storage disease with ichthyosis|Chanarin-Dorfman disease|triglyceride storage disease with impaired long-chain fatty acid oxidation|Dorfman-Chanarin syndrome|Chanarin-Dorfman syndrome OMIM:275630|SCTID:19604005|GARD:0003979|Orphanet:98907|ICD10:E75.5 owl:Class HGNC:21396 biolink:NamedThing ABHD5 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3 biolink:NamedThing chromosome 3 (Human) tmpte7i6ely_mondo_relaxed.owl 3 198295559 0 hg38 owl:Class MONDO:0008682 biolink:NamedThing Denys-Drash syndrome Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. tmpte7i6ely_mondo_relaxed.owl Wilms tumor and pseudo- or true hermaphroditism|Wilms tumor and pseudohermaphroditism|Denys Drash syndrome|DDS|nephrotic syndrome type 4|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|nephropathy, Wilms tumor, and genital anomalies|pseudohermaphroditism, nephron disorder and Wilms' tumor|Drash syndrome|Denys-Drash syndrome NCIT:C84668|SCTID:236385009|OMIM:194080|GARD:0005576|Orphanet:220|UMLS:C3151568|ICD9:189.0|MedDRA:10070179|ICD10:N04.1|MESH:D030321|DOID:3764|UMLS:C0950121 owl:Class HGNC:18249 biolink:NamedThing KCTD1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005891 biolink:NamedThing coelomic epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002312 biolink:NamedThing somatotroph An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin. tmpte7i6ely_mondo_relaxed.owl somatrophic cell|somatotropic cell|somatotrope FMA:83095 tmeehan 2010-09-14T02:33:09Z cell owl:Class MONDO:0003617 biolink:NamedThing chronic salpingitis Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack. tmpte7i6ely_mondo_relaxed.owl salpingitis, chronic NCIT:C40118|DOID:5731|UMLS:C0269041|SCTID:55551005|ICD10:N70.11 owl:Class UBERON:8300000 biolink:NamedThing skin of scalp tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903055 biolink:NamedThing positive regulation of extracellular matrix organization Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. tmpte7i6ely_mondo_relaxed.owl activation of extracellular matrix organisation|up-regulation of extracellular matrix organization|up regulation of extracellular matrix organisation|upregulation of extracellular matrix organisation|positive regulation of extracellular matrix organisation|up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organisation|activation of extracellular matrix organization|up regulation of extracellular matrix organization|upregulation of extracellular matrix organization|positive regulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organization and biogenesis owl:Class UBERON:0036244 biolink:NamedThing secretion of serous membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015003 biolink:NamedThing ulna endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004786 biolink:NamedThing gastrointestinal system mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030252 biolink:NamedThing growth hormone secretion The regulated release of growth hormone from secretory granules into the blood. tmpte7i6ely_mondo_relaxed.owl somatotropin secretion owl:Class GO:0098655 biolink:NamedThing cation transmembrane transport The process in which a cation is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl ATP hydrolysis coupled cation transmembrane transport owl:Class HGNC:7704 biolink:NamedThing NDUFB9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011577 biolink:NamedThing myopathy, proximal, and ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|inclusion body myopathy 3, autosomal dominant, formerly|MYOPATHY, proximal, and ophthalmoplegia|MYPOP|inclusion body myopathy 3, autosomal dominant|myopathy, proximal, and ophthalmoplegia UMLS:C1854106|MESH:C565311|OMIM:605637|Orphanet:79091 owl:Class HGNC:7572 biolink:NamedThing MYH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003784 biolink:NamedThing nasal cavity carcinoma in situ A in situ carcinoma that involves the nasal cavity. tmpte7i6ely_mondo_relaxed.owl stage 0 nasal cavity carcinoma|nasal cavity carcinoma in situ|stage 0 nasal cavity carcinoma aJCC v6|stage 0 nasal cavity cancer|carcinoma in situ of nasal cavity|carcinoma in situ of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v7|stage 0 nasal cavity cancer aJCC v6, v7, and v8|stage 0 carcinoma of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v8|stage 0 carcinoma of nasal cavity|nasal cavity in situ carcinoma|carcinoma in situ of nasal cavities NCIT:C4589|UMLS:C0347095|ICD9:231.8|SCTID:92663007|ICD10:D02.3|DOID:6148 owl:Class GO:1900078 biolink:NamedThing positive regulation of cellular response to insulin stimulus Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus. tmpte7i6ely_mondo_relaxed.owl activation of cellular response to insulin stimulus|up-regulation of cellular response to insulin stimulus|up regulation of cellular response to insulin stimulus|upregulation of cellular response to insulin stimulus owl:Class MONDO:0005919 biolink:NamedThing placental insufficiency Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. tmpte7i6ely_mondo_relaxed.owl uteroplacental vascular insufficiency|insufficiency, placental Orphanet:439167|EFO:0007443|SCTID:237292005|ICD10:O36.5|UMLS:C0032051|DOID:3891|ICD9:762.2|MESH:D010927 owl:Class GO:0042088 biolink:NamedThing T-helper 1 type immune response An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin. tmpte7i6ely_mondo_relaxed.owl Th1 immune response owl:Class UBERON:0005795 biolink:NamedThing embryonic uterus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004383 biolink:NamedThing adult central nervous system germinoma A central nervous system germinoma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl central nervous system germinoma of adults|adult central nervous system germinoma|germinoma of the adult CNS|central nervous system germinoma|germinoma of the adult central nervous system|adult CNS germinoma|germinoma of adult CNS|germinoma of adult central nervous system DOID:7867|UMLS:C1370504|NCIT:C5792 owl:Class UBERON:0008836 biolink:NamedThing liver bud tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000788 biolink:NamedThing naive B cell A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery. tmpte7i6ely_mondo_relaxed.owl naive B-cell|naive B-lymphocyte|naive B lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'naive B cell'. Per DSD: Naive B cells are also reportedly CD10-negative, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD25-negative, CD27-negative, CD34-negative, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD80-negative, CD81-positive, CD84-positive, CD86-negative, CD95-negative, CD138-negative, CD150-positive, CD184/CXCR4-positive, CD185/CXCR5-positive, CD196/CCR6-positive, CD200-positive, CD229-positive, CD243-positive, CD289-positive, CD290-positive, CD352-positive, MHCII/HLA-DR-positive, cadherin 9-positive, and sIgH-positive, Transcription factors: Pax5-positive, ETS1-positive, FOXO1A-positive, KLF4-positive, KLF9-positive, MiTF-positive, OBF1-positive, PLZF-positive, and SpiB-positive. cell owl:Class MONDO:0004713 biolink:NamedThing lower gum cancer A cancer involving a gingiva of lower jaw. tmpte7i6ely_mondo_relaxed.owl cancer of gingiva of lower jaw|malignant neoplasm of gingiva of lower jaw|malignant tumor of lower gingiva|malignant tumour of lower gum|malignant gingiva of lower jaw neoplasm|gingiva of lower jaw cancer ICD10:C03.1|UMLS:C0432581|ICD9:143.1|DOID:9125|SCTID:363384006 owl:Class UBERON:0011602 biolink:NamedThing gingiva of lower jaw tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16q24.3 biolink:NamedThing 16q24.3 (Human) tmpte7i6ely_mondo_relaxed.owl 90338345 88700000 hg38 owl:Class MONDO:0007856 biolink:NamedThing palmoplantar keratoderma-esophageal carcinoma syndrome Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma-esophageal carcinoma syndrome|keratosis palmaris Et plantaris with esophageal cancer|keratosis palmoplantaris with esophageal cancer|Howell-Evans syndrome|tylosis-oesophageal carcinoma syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar keratoderma with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|tylosis - oesophageal carcinoma|tylosis with esophageal cancer|Toc|howel-Evans syndrome|Bennion-Patterson syndrome|keratosis palmoplantaris-esophageal carcinoma syndrome SCTID:111030006|DOID:0111506|Orphanet:2198|OMIM:148500|GARD:0003102|MESH:C536164 https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer owl:Class HGNC:20788 biolink:NamedThing RHBDF2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050746 biolink:NamedThing regulation of lipoprotein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpte7i6ely_mondo_relaxed.owl regulation of lipoprotein metabolism owl:Class UBERON:0036074 biolink:NamedThing vein of vestibular aqueduct tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007160 biolink:NamedThing inferior petrosal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0021915 biolink:NamedThing neural tube development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012690 biolink:NamedThing Noonan syndrome 5 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. tmpte7i6ely_mondo_relaxed.owl Noonan syndrome type 5|RAF1 gene related Noonan syndrome|NS5|Noonan syndrome 5|RAF1 Noonan syndrome|Noonan syndrome caused by mutation in RAF1 OMIM:611553|MESH:C548083|Orphanet:648|DOID:0060583|GARD:0010700|UMLS:C1969057 https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5 owl:Class HGNC:9829 biolink:NamedThing RAF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008981 biolink:NamedThing infantile choroidocerebral calcification syndrome This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. tmpte7i6ely_mondo_relaxed.owl choroid plexus calcification and mental retardation|choroid plexus calcification with intellectual disability|choroid plexus calcification and intellectual disability|choroid plexus calcification with mental retardation|Choroido-cerebral calcification syndrome with retardation SCTID:724228005|GARD:0001313|ICD10:G93.8|MESH:C535357|UMLS:C1859092|OMIM:215480|Orphanet:1313 owl:Class CL:2000018 biolink:NamedThing endothelial cell of coronary artery Any endothelial cell of artery that is part of a coronary artery. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T17:08:47Z cell owl:Class MONDO:0010210 biolink:NamedThing xeroderma pigmentosum group A Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum, complementation group A|xeroderma pigmentosum, complementation group type a|xeroderma pigmentosum caused by mutation in XPA|XPA|xeroderma pigmentosum group A|XP group A|XP1|XP, group A|XPA xeroderma pigmentosum|XP-A|xeroderma pigmentosum complementation group A|xeroderma pigmentosum group type A|xeroderma pigmentosum, type 1|xeroderma pigmentosum 1 GARD:0005624|ICD10:Q82.1|SCTID:43477006|DOID:0110843|Orphanet:910|UMLS:C0268135|NCIT:C3965|Orphanet:276249|OMIM:278700 owl:Class MONDO:0009973 biolink:NamedThing reticular dysgenesis Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. tmpte7i6ely_mondo_relaxed.owl DeVaal disease|severe combined immunodeficiency with leukopenia|aleukocytosis|hematopoietic hypoplasia, generalized|reticular dysgenesis|SCID with leukopenia|congenital aleukocytosis|RD|generalized hematopoietic hypoplasia|reticular Dysgenesia|De Vaal disease|AK2 deficiency|congenital Aleukia Orphanet:33355|NCIT:C27070|OMIM:267500|GARD:0008625|MESH:C538361|SCTID:111584000|UMLS:C0272167|ICD10:D81.0|DOID:0060020 https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis owl:Class GO:0042113 biolink:NamedThing B cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpte7i6ely_mondo_relaxed.owl B-lymphocyte activation|B lymphocyte activation|B-cell activation owl:Class MONDO:0003585 biolink:NamedThing adult liposarcoma A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. tmpte7i6ely_mondo_relaxed.owl adult liposarcoma|liposarcoma of adults|liposarcoma UMLS:C0278608|DOID:5693|NCIT:C7811 owl:Class MONDO:0021441 biolink:NamedThing benign neoplasm of exocrine pancreas A benign neoplasm that involves the exocrine pancreas. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the exocrine pancreas|benign tumor of exocrine pancreas|benign exocrine pancreas neoplasm|benign tumor of the exocrine pancreas|exocrine pancreas benign neoplasm|benign exocrine pancreas tumor|benign exocrine pancreatic neoplasm NCIT:C4613|SCTID:271956003|UMLS:C0347285 owl:Class MONDO:0014303 biolink:NamedThing hereditary spastic paraplegia 64 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. tmpte7i6ely_mondo_relaxed.owl SPG64|autosomal recessive spastic paraplegia 64|hereditary spastic paraplegia type 64|spastic paraplegia 64, autosomal recessive|autosomal recessive spastic paraplegia type 64|ENTPD1 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1 SCTID:726609005|ICD10:G11.4|OMIM:615683|UMLS:C4511960|UMLS:C3810289|Orphanet:401810|DOID:0110815 owl:Class MONDO:0016236 biolink:NamedThing kaposiform hemangioendothelioma Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. tmpte7i6ely_mondo_relaxed.owl Kaposiform hemangioendothelioma|congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangio-endothelioma|KHE|KH SCTID:403983000|NCIT:C27510|Orphanet:2122|ICD10:D18.0|UMLS:C1367420|GARD:0003077|MESH:C537007 https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma owl:Class CL:0000973 biolink:NamedThing IgA memory B cell A class switched memory B cell that expresses IgA. tmpte7i6ely_mondo_relaxed.owl memory IgA B-lymphocyte|memory IgA B cell|IgA memory B-lymphocyte|memory IgA B lymphocyte|IgA memory B lymphocyte|memory IgA B-cell|IgA memory B-cell IgA memory B cell are also reportedly RORalpha-positive. cell owl:Class UBERON:0002030 biolink:NamedThing nipple tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001546 biolink:NamedThing quality of a solid A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. tmpte7i6ely_mondo_relaxed.owl solidity owl:Class UBERON:0016612 biolink:NamedThing auditory hillocks, pharyngeal arch 2 derived tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006208 biolink:NamedThing auditory hillocks tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010995 biolink:NamedThing Charcot-Marie-Tooth disease type 1C Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene. tmpte7i6ely_mondo_relaxed.owl HMSN IC|CMT slow nerve conduction type C|HMSN1C|CMT 1C|Charcot Marie Tooth disease type 1C|neuropathy, hereditary motor and sensory, type 1C|Charcot-Marie-Tooth disease, demyelinating, type 1C|CMT1C|Charcot-Marie-Tooth neuropathy, type 1C|Charcot-Marie-Tooth neuropathy type 1C|neuropathy hereditary motor and sensory type 1C|LITAF Charcot-Marie-Tooth disease type 1|CMT, slow nerve conduction type C|Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|HMSN 1C Orphanet:101083|UMLS:C0270913|DOID:0110151|MESH:C537984|GARD:0001247|ICD10:G60.0|OMIM:601098 https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c owl:Class HGNC:16841 biolink:NamedThing LITAF tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009034 biolink:NamedThing dendritic cell of appendix A dendritic cell that is located in a vermiform appendix. tmpte7i6ely_mondo_relaxed.owl appendix dendritic cell|dendritic cell of appendix vermiformis|dendritic cell of vermiform appendix owl:Class MONDO:0004509 biolink:NamedThing intrahepatic biliary papillomatosis A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl intrahepatic biliary papillomatosis|intrahepatic bile duct papillary neoplasm|intrahepatic bile duct papillomatosis DOID:8230|UMLS:C1334258|NCIT:C7125 owl:Class MONDO:0013435 biolink:NamedThing primary ciliary dyskinesia 15 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 15|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia caused by mutation in CCDC40|ciliary dyskinesia, primary, 15, with or without situs inversus|CILD15|primary ciliary dyskinesia 15 with or without situs inversus|primary ciliary dyskinesia type 15|CCDC40 primary ciliary dyskinesia|primary ciliary dyskinesia 15 ICD10:Q34.8|OMIM:613808|UMLS:C3151137|DOID:0110623|Orphanet:244 owl:Class HGNC:26090 biolink:NamedThing CCDC40 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009783 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia with cerebellar ataxia infantile|PEOB1|arPEO|POLG autosomal recessive progressive external ophthalmoplegia|cerebellar ataxia infantile with progressive external ophthalmoplegia|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|progressive external ophthalmoplegia, autosomal recessive 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG Orphanet:254886|GARD:0001191|DOID:0111522|OMIM:258450|UMLS:C4225153 https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1 owl:Class UBERON:2002098 biolink:NamedThing hemal spine series tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2001364 biolink:NamedThing hemal spine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013821 biolink:NamedThing intellectual disability, autosomal dominant 16 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 16|intellectual disability, autosomal dominant type 16|SMARCA4 Coffin-Siris syndrome|SMARCA4-related BAFopathy|autosomal dominant intellectual disability 16|MRD16|COFFIN-SIRIS syndrome 4|CSS4|mental retardation, autosomal dominant 16|mental retardation, autosomal dominant type 16|intellectual disability, autosomal dominant 16|Coffin-Siris syndrome caused by mutation in SMARCA4 Orphanet:1465|UMLS:C3553249|OMIM:614609|DOID:0070046 owl:Class HGNC:11100 biolink:NamedThing SMARCA4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004834 biolink:NamedThing hepatic duct smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013133 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl susceptibility to cutaneous malignant melanoma 5|CMM5|melanoma, cutaneous malignant, susceptibility to, type 5|melanoma, cutaneous malignant, susceptibility to, 5 Orphanet:618|OMIM:613099 owl:Class GO:0042069 biolink:NamedThing regulation of catecholamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. tmpte7i6ely_mondo_relaxed.owl regulation of catecholamine metabolism owl:Class GO:0006584 biolink:NamedThing catecholamine metabolic process The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpte7i6ely_mondo_relaxed.owl catecholamine metabolism owl:Class MONDO:0011953 biolink:NamedThing familial acute necrotizing encephalopathy Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. tmpte7i6ely_mondo_relaxed.owl acute necrotizing encephalopathy type 1|ADANE|encephalopathy, acute, infection-induced, susceptibility to, type 3|IIAE3|autosomal dominant acute necrotizing encephalopathy|encephalopathy, acute necrotizing, susceptibility to|susceptibility to infection-induced acute encephalopathy 3|ANE1|recurrent acute necrotizing encephalopathy|infection-induced acute encephalopathy 3|encephalopathy, acute, infection-induced, susceptibility to, 3|susceptibility to acute necrotizing encephalopathy|Postinfectious acute necrotizing hemorrhagic encephalopathy|susceptibility to acute infection-induced encephalopathy-3 SCTID:723359002|UMLS:C4509836|GARD:0013232|OMIM:608033|Orphanet:88619 owl:Class HGNC:9848 biolink:NamedThing RANBP2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008896 biolink:NamedThing post-hyoid pharyngeal arch tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012085 biolink:NamedThing lumen of tertiary bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021459 biolink:NamedThing benign neoplasm of esophagus A benign neoplasm that involves the esophagus. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the esophagus|benign esophagus neoplasm|benign esophageal tumor|benign esophageal neoplasm|benign tumor of the esophagus|esophagus benign neoplasm|benign esophagus tumor|benign tumor of esophagus NCIT:C3598|UMLS:C0153942|SCTID:92091003|ICD10:D13.0|ICD9:211.0 owl:Class MONDO:0013751 biolink:NamedThing cutis laxa, autosomal dominant 2 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant cutis laxa caused by mutation in FBLN5|autosomal dominant cutis laxa 2|ADCL2|cutis laxa, autosomal dominant 2|cutis laxa, autosomal dominant type 2|FBLN5 autosomal dominant cutis laxa Orphanet:90348|OMIM:614434|UMLS:C3280794 owl:Class GO:1903489 biolink:NamedThing positive regulation of lactation Any process that activates or increases the frequency, rate or extent of lactation. tmpte7i6ely_mondo_relaxed.owl upregulation of lactation|up-regulation of lactation|activation of lactation|up regulation of lactation owl:Class MONDO:0004808 biolink:NamedThing benign mammary dysplasia tmpte7i6ely_mondo_relaxed.owl benign mammary dysplasia|benign dysplasia of breast DOID:9504|SCTID:57993004|ICD9:610.8|ICD9:610.9 Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia owl:Class GO:0045843 biolink:NamedThing negative regulation of striated muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. tmpte7i6ely_mondo_relaxed.owl down-regulation of striated muscle development|inhibition of striated muscle development|downregulation of striated muscle development|down regulation of striated muscle development owl:Class N125bc19c48a94706b49ce8aa2199f267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0008713 biolink:NamedThing pectoral girdle and thoracic body wall skeletal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:3100011 biolink:NamedThing concentration of dioxygen in liquid water The concentration of dioxygen when measured in liquid water. tmpte7i6ely_mondo_relaxed.owl liquid water dioxygen concentration owl:Class N324cda99dc3d4d11ad09bd04bc118d8c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0005997 biolink:NamedThing tricuspid valve anulus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008652 biolink:NamedThing cellular amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. tmpte7i6ely_mondo_relaxed.owl amino acid biosynthetic process|cellular amino acid formation|cellular amino acid anabolism|cellular amino acid synthesis|cellular amino acid biosynthesis owl:Class MONDO:0000233 biolink:NamedThing Japanese spotted fever A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities. tmpte7i6ely_mondo_relaxed.owl Japanese spotted fevers|oriental spotted fever|Rickettsia japonica spotted fever|fevers, Japanese spotted|fever, Japanese spotted|Japanese spotted fever|spotted fever, Japanese UMLS:C2108396|DOID:0050050 owl:Class NCBITaxon:35790 biolink:NamedThing Rickettsia japonica tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:1581190|PMID:2516664 ncbi_taxonomy owl:Class UBERON:0014903 biolink:NamedThing primordial vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008792 biolink:NamedThing familial angiolipomatosis Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. tmpte7i6ely_mondo_relaxed.owl angiolipoma Microthromboticum|angiolipomatosis, familial Orphanet:199279|OMIM:206550|ICD10:D17.9|UMLS:C1859784|MESH:C565951 owl:Class HGNC:3393 biolink:NamedThing EPHB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010520 biolink:NamedThing X-linked Alport syndrome X-linked form of Alport syndrome. tmpte7i6ely_mondo_relaxed.owl hemorrhagic familial nephritis|X-linked Alport syndrome|Alport syndrome, X-linked|congenital hereditary hematuria|ATS|nephropathy and deafness, X-linked|hemorrhagic hereditary nephritis SCTID:717768004|OMIM:301050|GARD:0005785|Orphanet:63|ICD10:Q87.8|MedDRA:10001843|DOID:0110034|Orphanet:88917 owl:Class HGNC:16783 biolink:NamedThing CDC73 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000252 biolink:NamedThing negative regulation of feeding behavior Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior. tmpte7i6ely_mondo_relaxed.owl negative regulation of drinking|negative regulation of behavioural response to food|negative regulation of behavioral response to food|negative regulation of feeding behaviour|negative regulation of eating owl:Class GO:0032113 biolink:NamedThing regulation of carbohydrate phosphatase activity Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011068 biolink:NamedThing type 1 diabetes mellitus 12 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene. tmpte7i6ely_mondo_relaxed.owl CTLA4 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CTLA4|diabetes mellitus, insulin-dependent, type 12|insulin-dependent diabetes mellitus 12|diabetes mellitus, insulin-dependent, 12|IDDM12 UMLS:C1832392|DOID:0110751|OMIM:601388|ICD10:E10|MESH:C563326 owl:Class OBO:CHR_9606-chr5q22 biolink:NamedThing 5q22 (Human) tmpte7i6ely_mondo_relaxed.owl 115900000 110200000 hg38 owl:Class UBERON:0034928 biolink:NamedThing dorsal surface of penis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003722 biolink:NamedThing middle cranial fossa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011466 biolink:NamedThing distal myopathy, Welander type Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. tmpte7i6ely_mondo_relaxed.owl Welander distal myopathy|Welander distal myopathy, Swedish type|distal myopathy, Swedish type|WDM|myopathy, distal, Swedish|muscular dystrophy, distal, late-onset, autosomal dominant Orphanet:603|GARD:0005552|UMLS:CN205368|ICD10:G71.0|OMIM:604454 owl:Class HGNC:11802 biolink:NamedThing TIA1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0044381 biolink:NamedThing glucose import in response to insulin stimulus The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. tmpte7i6ely_mondo_relaxed.owl cellular glucose import in response to insulin stimulus owl:Class MONDO:0014215 biolink:NamedThing primary ciliary dyskinesia 27 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia type 27|ciliary dyskinesia, primary, 27, without situs inversus|CILD27|ciliary dyskinesia, primary, type 27|primary ciliary dyskinesia 27 without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC65|CCDC65 primary ciliary dyskinesia|ciliary dyskinesia, primary, 27 ICD10:Q34.8|OMIM:615504|DOID:0110611|UMLS:C3809701 owl:Class HGNC:29937 biolink:NamedThing CCDC65 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008503 biolink:NamedThing Worster-Drought syndrome Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. tmpte7i6ely_mondo_relaxed.owl suprabulbar paresis, congenital|Worster-Drought syndrome|suprabulbar paresis congenital|Worster Drought syndrome|congenital suprabulbar paresis Orphanet:3465|MESH:C536747|OMIM:185480|UMLS:C0796204|GARD:0005598|ICD10:G80.8|SCTID:716335003 https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome owl:Class MONDO:0001071 biolink:NamedThing intellectual disability A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. tmpte7i6ely_mondo_relaxed.owl intellectual disability|intellectual disabilities|mental retardation SCTID:91138005|MESH:D008607|ICD10:F70.F79|ICD9:319|EFO:0003847|NCIT:C97250|GARD:0011963|DOID:1059|Orphanet:319658 owl:Class MONDO:0060677 biolink:NamedThing chromosome 1p35 deletion syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 1p35 deletion syndrome OMIM:617930|UMLS:CN244562 owl:Class OBO:CHR_9606-chr14q3 biolink:NamedThing 14q3 (Human) tmpte7i6ely_mondo_relaxed.owl 107043718 78800000 hg38 owl:Class GO:0007409 biolink:NamedThing axonogenesis De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. tmpte7i6ely_mondo_relaxed.owl axon growth|neuron long process generation|axon morphogenesis owl:Class GO:0061564 biolink:NamedThing axon development The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011111 biolink:NamedThing humeroradial joint tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11p biolink:NamedThing 11p (Human) tmpte7i6ely_mondo_relaxed.owl 53400000 0 hg38 owl:Class CL:0002033 biolink:NamedThing short term hematopoietic stem cell A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative. tmpte7i6ely_mondo_relaxed.owl ST stem cell|ST-HSC Markers are associated with mouse cells. These cells are also reportedly CD11b-low and CD90-low. tmeehan 2010-01-08T09:19:25Z cell owl:Class MONDO:0011395 biolink:NamedThing cone-rod dystrophy 3 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 3|cone-rod dystrophy 3|ABCA4 cone-rod dystrophy|cone-rod dystrophy caused by mutation in ABCA4|CORD3 MESH:C565827|OMIM:604116|UMLS:C1858806|GARD:0010653|DOID:0111013 https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3 owl:Class MONDO:0021456 biolink:NamedThing benign neoplasm of sternum A benign neoplasm that involves the sternum. tmpte7i6ely_mondo_relaxed.owl benign sternal neoplasm|benign neoplasm of the sternum|benign tumor of sternum|benign tumor of the sternum|benign sternal tumor|sternum benign neoplasm SCTID:92410006|NCIT:C8416|UMLS:C0347312 owl:Class PATO:0002287 biolink:NamedThing increased elasticity An elasticity which is relatively high. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013504 biolink:NamedThing caudal vertebra pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9001687 biolink:NamedThing exposure to micronutrient An exposure to micronutrient. tmpte7i6ely_mondo_relaxed.owl exposure to micronutrient owl:Class MONDO:0013062 biolink:NamedThing long QT syndrome 12 Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene. tmpte7i6ely_mondo_relaxed.owl SNTA1 long QT syndrome|long QT syndrome 12|long QT syndrome type 12|LQT12|long QT syndrome caused by mutation in SNTA1 UMLS:C2751830|OMIM:612955|DOID:0110653|ICD10:I45.8|MESH:C567842|Orphanet:768|Orphanet:101016 owl:Class HGNC:11167 biolink:NamedThing SNTA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013259 biolink:NamedThing Oguchi disease-2 Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene. tmpte7i6ely_mondo_relaxed.owl CSNBO2|congenital stationary night blindness Oguchi type 2|night blindness, congenital stationary, Oguchi type 2|Oguchi disease caused by mutation in GRK1|Oguchi disease type 2|Oguchi disease 2|GRK1 Oguchi disease UMLS:C3150678|DOID:0110713|OMIM:613411|Orphanet:75382 owl:Class HGNC:10013 biolink:NamedThing GRK1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q3 biolink:NamedThing 9q3 (Human) tmpte7i6ely_mondo_relaxed.owl 138394717 99800000 hg38 owl:Class HGNC:3776 biolink:NamedThing AFF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014202 biolink:NamedThing primary ciliary dyskinesia 24 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 24|ciliary dyskinesia, primary, 24|RSPH1 primary ciliary dyskinesia|CILD24|ciliary dyskinesia, primary, 24, without situs inversus|primary ciliary dyskinesia 24 without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH1|primary ciliary dyskinesia type 24|ciliary dyskinesia, primary, type 24 UMLS:C3809634|OMIM:615481|DOID:0110628|ICD10:Q34.8 owl:Class HGNC:12371 biolink:NamedThing RSPH1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1742 biolink:NamedThing LRBA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:124 biolink:NamedThing ACP5 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00005800 biolink:NamedThing desert sand Sand which is part of a desert. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001357 biolink:NamedThing desert A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29086 biolink:NamedThing CEP135 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021021 biolink:NamedThing craniodiaphyseal dysplasia, autosomal dominant tmpte7i6ely_mondo_relaxed.owl dominantly inherited craniodiaphyseal dysplasia|CDD|Schaefer Stein Oshman syndrome|craniodiaphyseal dysplasia, autosomal dominant|craniodiaphyseal dysplasia, dominant GARD:0000249|OMIM:122860|MESH:C567275 owl:Class MONDO:0010421 biolink:NamedThing Bruton-type agammaglobulinemia X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy. tmpte7i6ely_mondo_relaxed.owl Bruton agammaglobulinemia tyrosine kinase deficiency|X-linked agammaglobulinemia|agammaglobulinemia, Bruton tyrosine kinase|agammaglobulinemia, BTK|Bruton's type agammaglobulinemia|Bruton's agammaglobulinaemia|immunodeficiency 1|Bruton's X-linked agammaglobulinemia|BTK-deficiency|XLA|hypogammaglobulinemia, X-linked|Bruton's agammaglobulinemia|Bruton's Sex-linked agammaglobulinemia|BTK deficiency|agammaglobulinemia, X-linked, type 1|Bruton type agammaglobulinemia|Bruton-type agammaglobulinemia|agammaglobulinemia, X-linked DOID:14179|MedDRA:10060360|GARD:0001033|Orphanet:47|SCTID:65880007|OMIM:300310|ICD10:D80.0|OMIM:300755|MESH:C537409|UMLS:C0221026|Orphanet:229717|NCIT:C3822 owl:Class GO:0045646 biolink:NamedThing regulation of erythrocyte differentiation Any process that modulates the frequency, rate or extent of erythrocyte differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of RBC differentiation|regulation of red blood cell differentiation owl:Class CHEBI:57718 biolink:NamedThing barbiturate(2-) Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions. tmpte7i6ely_mondo_relaxed.owl barbiturate dianion|2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide|2,4,6-trioxo-1,3-diazinane-1,5-diide owl:Class HGNC:6055 biolink:NamedThing IMPG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007281 biolink:NamedThing cataract 4 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene. tmpte7i6ely_mondo_relaxed.owl cataract, congenital, cerulean type, 3|cataract 4 multiple types with or without microcornea|cataract 4, multiple types|cataract, crystalline aculeiform|CCA3|cataract 4, multiple types, with or without microcornea|congenital cataract cerulean type 3|cataract, Nonnuclear polymorphic congenital|CTRCT4|cataract (disease) caused by mutation in CRYGD|CRYGD cataract (disease)|cataract, punctate, progressive juvenile-onset Orphanet:98990|ICD10:Q12.0|Orphanet:91492|DOID:0110234|Orphanet:98989|Orphanet:98995|OMIM:115700|Orphanet:98991 owl:Class HGNC:2411 biolink:NamedThing CRYGD tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7765 biolink:NamedThing NF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006941 biolink:NamedThing rat-bite fever An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. tmpte7i6ely_mondo_relaxed.owl Streptobacillosis|rat bite fever|spirillosis MESH:D011906|ICD10:A25.9|MedDRA:10037904|Orphanet:31205|ICD9:026.9|ICD10:A25.0|SCTID:1685005|NCIT:C34971|ICD10:A25.1|EFO:1001144|GARD:0009557|UMLS:C0034686 https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever owl:Class NCBITaxon:10114 biolink:NamedThing Rattus tmpte7i6ely_mondo_relaxed.owl rats|rat GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006286 biolink:NamedThing radius cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034875 biolink:NamedThing future pituitary gland tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001153 biolink:NamedThing positive regulation of renal water transport Any process that activates or increases the frequency, rate or extent of renal water transport. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004951 biolink:NamedThing susceptibility to HIV infection The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte. tmpte7i6ely_mondo_relaxed.owl HIV-1, resistance to|HIV-1, susceptibility to|human immunodeficiency virus type 1, resistance to|human immunodeficiency virus type 1, susceptibility to|AIDS, progression to|acquired immunodeficiency syndrome, progression to OMIM:609423|UMLS:CN282826|NCIT:C14220 owl:Class UBERON:0009638 biolink:NamedThing orbitosphenoid ossification center tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014845 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 22 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene. tmpte7i6ely_mondo_relaxed.owl VWA3B autosomal recessive cerebellar ataxia|SCAR22|spinocerebellar ataxia, autosomal recessive 22; SCAR22|spinocerebellar ataxia, autosomal recessive 22|spinocerebellar ataxia, autosomal recessive type 22|autosomal recessive cerebellar ataxia caused by mutation in VWA3B DOID:0111614|UMLS:C4310781|OMIM:616948 owl:Class HGNC:28385 biolink:NamedThing VWA3B tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001004 biolink:NamedThing Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. tmpte7i6ely_mondo_relaxed.owl Lymphoedema|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Onset of lymphedema around puberty SNOMEDCT_US:30213001|SNOMEDCT_US:234097001|UMLS:C0024236|UMLS:C0240278|MSH:D008209|UMLS:C1835229 HP:0003605 human_phenotype owl:Class GO:0007009 biolink:NamedThing plasma membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. tmpte7i6ely_mondo_relaxed.owl plasma membrane organization and biogenesis|plasma membrane organisation owl:Class HGNC:8148 biolink:NamedThing OPHN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000721 biolink:NamedThing xanthinuria A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. tmpte7i6ely_mondo_relaxed.owl ICD9:277.2|SCTID:190919008 owl:Class GO:0046110 biolink:NamedThing xanthine metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. tmpte7i6ely_mondo_relaxed.owl xanthine metabolism owl:Class MONDO:0007049 biolink:NamedThing acroleukopathy, symmetric tmpte7i6ely_mondo_relaxed.owl acroleukopathy, symmetric MESH:C566322|UMLS:C1863342|OMIM:102000 owl:Class HGNC:358 biolink:NamedThing AIP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009629 biolink:NamedThing Desbuquois dysplasia 1 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene. tmpte7i6ely_mondo_relaxed.owl DBQD1|Desbuquois dysplasia, Kim variant|Desbuquois dysplasia 1|Desbuquois dysplasia type 1|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|desbuquois syndrome|CANT1 Desbuquois dysplasia|Desbuquois dysplasia caused by mutation in CANT1 UMLS:C4012146|OMIM:251450|Orphanet:1425|UMLS:C0432242 owl:Class HGNC:19721 biolink:NamedThing CANT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014108 biolink:NamedThing Fanconi anemia complementation group Q Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia complementation group type Q|Fanconi Anemia, complementation group type Q|Fanconi anemia, complementation group Q|FANCQ|Fanconi anemia caused by mutation in ERCC4|ERCC4 Fanconi anemia DOID:0111093|OMIM:615272|UMLS:C3808988 owl:Class MONDO:0014104 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|dysequilibrium syndrome caused by mutation in ATP8A2|CAMRQ4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4|ATP8A2 dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 UMLS:C3808977|OMIM:615268|Orphanet:1766 owl:Class HGNC:13533 biolink:NamedThing ATP8A2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9477 biolink:NamedThing PRSS12 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410045 biolink:NamedThing artery of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002813 biolink:NamedThing right cerebral hemisphere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023579 biolink:NamedThing Kuster Majewski Hammerstein syndrome tmpte7i6ely_mondo_relaxed.owl alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation GARD:0003151|MESH:C538125|UMLS:C2931740 Editor note: consider merging with MONDO:0021849 https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome owl:Class UBERON:0013279 biolink:NamedThing diaphysis of fibula tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000789 biolink:NamedThing Infertility tmpte7i6ely_mondo_relaxed.owl Infertility SNOMEDCT_US:15296000|UMLS:C0021359|SNOMEDCT_US:8619003|MSH:D007246 human_phenotype owl:Class CL:0002052 biolink:NamedThing Fraction D precursor B cell A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive. tmpte7i6ely_mondo_relaxed.owl Fr. D|Fraction D pre-B cell Fraction D precursor B cells are also reportedly CD24-positive and sIgD-negative. tmeehan 2010-04-28T02:55:16Z cell owl:Class GO:0035369 biolink:NamedThing pre-B cell receptor complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. tmpte7i6ely_mondo_relaxed.owl pre-BCR owl:Class HP:0001423 biolink:NamedThing X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. tmpte7i6ely_mondo_relaxed.owl X-linked dominant UMLS:C1847879 human_phenotype owl:Class MONDO:0010457 biolink:NamedThing Ogden syndrome Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. tmpte7i6ely_mondo_relaxed.owl OGDNS|N-alpha-acetyltransferase|X-linked malformation and infantile lethality syndrome|N acetyltransferase deficiency|N-terminal acetyltransferase deficiency|NAT1 deficiency|N acetyltransferase 1 deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|Acetyl-CoA:arylamine n-acetyltransferase|Ogden syndrome|arylamine n-acetyltransferase 1 GARD:0000188|MESH:C536107|Orphanet:276432|UMLS:C3275447|HGNC:7645|DOID:0050781|OMIM:300855 Editor note: check GARD owl:Class GO:0008080 biolink:NamedThing N-acetyltransferase activity Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:33778 biolink:NamedThing MYMK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012581 biolink:NamedThing osteogenesis imperfecta type 8 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, type VIII|OI8|osteogenesis imperfecta type 8|OI, type 8|osteogenesis imperfecta, type 8|P3H1 osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in P3H1|osteogenesis imperfecta type VIII|OI type VIII Orphanet:216804|GARD:0010152|Orphanet:216812|MESH:C536049|ICD10:Q78.0|Orphanet:666|OMIM:610915|DOID:0110336 owl:Class HGNC:19316 biolink:NamedThing P3H1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2579 biolink:NamedThing CYC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410049 biolink:NamedThing serosal nerve fiber of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014973 biolink:NamedThing sudden cardiac failure, infantile tmpte7i6ely_mondo_relaxed.owl sudden Cardiac failure, infantile|SCFI|sudden cardiac failure, infantile; SCFI OMIM:617222|UMLS:C4310664 owl:Class HGNC:28883 biolink:NamedThing PPA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012241 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene. tmpte7i6ely_mondo_relaxed.owl TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal dominant 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|PEOA3|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK DOID:0111520|UMLS:C1836439|OMIM:609286|Orphanet:254892|MESH:C563747 owl:Class MONDO:0012602 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 24 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 24|autosomal recessive nonsyndromic deafness 24|autosomal recessive nonsyndromic deafness type 24|DFNB24|RDX autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in RDX|deafness, autosomal recessive 24|autosomal recessive deafness 24 UMLS:C1970239|DOID:0110482|MESH:C567027|OMIM:611022|ICD10:H90.3 owl:Class HGNC:9944 biolink:NamedThing RDX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014187 biolink:NamedThing aortic aneurysm, familial thoracic 8 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene. tmpte7i6ely_mondo_relaxed.owl PRKG1 familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, familial thoracic type 8|familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|aortic aneurysm, familial thoracic 8|AAT8 Orphanet:91387|OMIM:615436|UMLS:C3809513 owl:Class HGNC:21071 biolink:NamedThing IYD tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2602 biolink:NamedThing CYP24A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010579 biolink:NamedThing manual digit 5 phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009101 biolink:NamedThing Wolfram syndrome 1 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. tmpte7i6ely_mondo_relaxed.owl WOLFRAM syndrome 1|Wolfram syndrome 1|diabetes insipidus and mellitus with optic atrophy and deafness|Wolfram syndrome caused by mutation in WFS1|Wfs|WFS1|WFS1 Wolfram syndrome|Wolfram syndrome type 1 Orphanet:3463|UMLS:C0043207|ICD10:E13.8|DOID:0110629|OMIM:222300 owl:Class FOODON:03420178 biolink:NamedThing seed part tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9644 biolink:NamedThing PTPN11 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:666 biolink:NamedThing Vibrio cholerae tmpte7i6ely_mondo_relaxed.owl Spirillum cholerae|Vibrio cholerae biovar albensis|Bacillus cholerae-asiaticae|Vibrio albensis|Bacillo virgola del Koch|Microspira comma|Liquidivibrio cholerae|Bacillus cholerae|Vibrio comma|Pacinia cholerae-asiaticae|Vibrio cholerae-asiaticae|Vibrio cholera|Vibrio cholerae bv. albensis|Kommabacillus|Spirillum cholerae-asiaticae PMID:1015934|PMID:9272984|GC_ID:11 NCBITaxon:140100|NCBITaxon:376726 ncbi_taxonomy owl:Class MONDO:0014941 biolink:NamedThing arthrogryposis, distal, with impaired proprioception and touch tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, with impaired proprioception and touch|arthrogryposis, distal, with impaired proprioception and touch; DAIPT|DAIPT OMIM:617146|UMLS:C4310692 owl:Class MONDO:0018903 biolink:NamedThing sarcocystosis Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. tmpte7i6ely_mondo_relaxed.owl sarcosporidiosis ICD9:136.5|MedDRA:10039483|Orphanet:54368|UMLS:C0036231|ICD10:A07.8|SCTID:88905005|MESH:D012523|DOID:9640|EFO:0007476 owl:Class HGNC:10457 biolink:NamedThing RS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014340 biolink:NamedThing atrial fibrillation, familial, 15 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene. tmpte7i6ely_mondo_relaxed.owl ATFB15|NUP155 familial atrial fibrillation|atrial fibrillation, familial, type 15|familial atrial fibrillation caused by mutation in NUP155|atrial fibrillation, familial, 15 UMLS:C4014269|OMIM:615770|Orphanet:334 owl:Class HGNC:8063 biolink:NamedThing NUP155 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023541 biolink:NamedThing Kasznica-Carlson-Coppedge syndrome tmpte7i6ely_mondo_relaxed.owl ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery|ectrodactyly spina bifida cardiopathy|Kasznica Carlson Coppedge syndrome UMLS:C2931393|MESH:C537011|GARD:0003080 https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome owl:Class MONDO:0007637 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 1 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. tmpte7i6ely_mondo_relaxed.owl Fuchs' endothelial dystrophy caused by mutation in COL8A2|FECD1|corneal dystrophy, Fuchs endothelial, type 1|corneal dystrophy, Fuchs endothelial, early-onset|corneal dystrophy, Fuchs endothelial, 1|COL8A2 Fuchs' endothelial dystrophy UMLS:C1850959|Orphanet:98974|OMIM:136800|MESH:C535478 owl:Class HGNC:2216 biolink:NamedThing COL8A2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36856 biolink:NamedThing hydrogen isocyanide tmpte7i6ely_mondo_relaxed.owl HNC|CNH|nitriliomethanide|HN(+)#C(-)|hydroisocyanic acid|hydrogen isocyanide owl:Class GO:0030857 biolink:NamedThing negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. tmpte7i6ely_mondo_relaxed.owl down regulation of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation|inhibition of epithelial cell differentiation owl:Class UBERON:0009117 biolink:NamedThing indifferent gonad tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035735 biolink:NamedThing intraciliary transport involved in cilium assembly The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. tmpte7i6ely_mondo_relaxed.owl intraflagellar transport involved in cilium morphogenesis|intraciliary transport involved in cilium morphogenesis|intraflagellar transport owl:Class CL:1000223 biolink:NamedThing lung neuroendocrine cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005870 biolink:NamedThing necatoriasis A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. tmpte7i6ely_mondo_relaxed.owl ICD10:B76.1|MESH:D009332|SCTID:36667009|NCIT:C34838|ICD9:126.9|UMLS:C0027528|EFO:0007390|DOID:2790 owl:Class UBERON:3000977 biolink:NamedThing body external integument structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003551 biolink:NamedThing thymic adenosquamous carcinoma A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components. tmpte7i6ely_mondo_relaxed.owl adenosquamous carcinoma of the Thymus|Thymus adenosquamous carcinoma|thymic adenosquamous carcinoma|thymus adenosquamous carcinoma|adenosquamous carcinoma of Thymus NCIT:C6458|UMLS:C1332171|DOID:5626 owl:Class MONDO:0011456 biolink:NamedThing nephronophthisis 3 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. tmpte7i6ely_mondo_relaxed.owl NPHP3|nephronophthisis 3|nephronophthisis (disease) caused by mutation in NPHP3|Nph3|nephronophthisis type 3|NPHP3 nephronophthisis (disease)|NPH3 MESH:C565780|OMIM:604387|UMLS:C1858392|DOID:0111114|Orphanet:655 owl:Class MONDO:0007308 biolink:NamedThing Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. tmpte7i6ely_mondo_relaxed.owl HMSN2A1|CMT 2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|HMSN IIA|CMT2A|Charcot-Marie-Tooth disease neuronal type 2A1|CMT2A1|Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease type 2A|Charcot-Marie-Tooth disease, neuronal, type 2A1|hereditary motor and sensory neuropathy 2 A|KIF1B Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, type 2A1|HMSN IIA1|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B|autosomal dominant Charcot-Marie-Tooth disease type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A|hereditary motor and sensory neuropathy IIA1|Charcot Marie Tooth disease type 2A|Charcot-Marie-Tooth disease type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A1|HMSN IIa1|hereditary motor and sensory neuropathy IIa1|Charcot-Marie-Tooth disease, neuronal, type 2A Orphanet:99946|NCIT:C134952|GARD:0001248|SCTID:717016001|ICD10:G60.0|DOID:0110154|OMIM:118210|MESH:C566138 https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a owl:Class HGNC:16636 biolink:NamedThing KIF1B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16400 biolink:NamedThing NLRP3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28625 biolink:NamedThing NDUFAF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004259 biolink:NamedThing endocervical carcinoma A carcinoma that arises from epithelial cells of the endocervix. tmpte7i6ely_mondo_relaxed.owl endocervical adenocarcinoma|carcinoma of endocervix|carcinoma of the endocervix|endocervical carcinoma|endocervical cancer|endocervix carcinoma NCIT:C28327|UMLS:C1299237|SCTID:372098004|DOID:7519 owl:Class UBERON:0000458 biolink:NamedThing endocervix tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3775 biolink:NamedThing FMR1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007143 biolink:NamedThing right internal carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001531 biolink:NamedThing right common carotid artery plus branches tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014514 biolink:NamedThing aortic aneurysm, familial thoracic 9 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. tmpte7i6ely_mondo_relaxed.owl MFAP5 familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, familial thoracic type 9|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5|aortic aneurysm, familial thoracic 9|aortic aneurysm, thoracic, with or without aortic dissection|AAT9 OMIM:616166|Orphanet:91387|UMLS:C4015368 owl:Class HGNC:29673 biolink:NamedThing MFAP5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009226 biolink:NamedThing fibrochondrogenesis 1 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene. tmpte7i6ely_mondo_relaxed.owl FBCG1|fibrochondrogenesis 1|COL11A1 fibrochondrogenesis|fibrochondrogenesis type 1|fibrochondrogenesis caused by mutation in COL11A1 OMIM:228520|UMLS:C3278138|Orphanet:2021 owl:Class CHEBI:4551 biolink:NamedThing digoxin A cardenolide glycoside that is digitoxin beta-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, Digitalis lanata, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small. tmpte7i6ely_mondo_relaxed.owl digoxin|(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide|12beta-hydroxydigitoxin owl:Class CHEBI:63510 biolink:NamedThing EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of Na(+)/K(+)-transporting ATPase (EC 3.6.3.9). tmpte7i6ely_mondo_relaxed.owl Na(+)/K(+)-pump inhibitor|sodium pump inhibitors|EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitors|sodium-potassium adenosine triphosphatase inhibitor|sodium-potassium pump inhibitor|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitors|sodium pump inhibitor|Na(+)/K(+)-ATPase inhibitors|EC 3.6.3.9 inhibitor|Na(+)/K(+)-transporting ATPase inhibitors|EC 3.6.3.9 inhibitors|Na(+)/K(+)-transporting ATPase inhibitor|Na(+)/K(+)-ATPase inhibitor|sodium-potassium adenosine triphosphatase inhibitors|sodium-potassium pump inhibitors|Na(+)/K(+)-pump inhibitors|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitor owl:Class CHEBI:77938 biolink:NamedThing barbiturate(1-) An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). tmpte7i6ely_mondo_relaxed.owl barbiturate|2,4,6-trioxohexahydropyrimidin-5-ide owl:Class HGNC:29256 biolink:NamedThing SOBP tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15 biolink:NamedThing chromosome 15 (Human) tmpte7i6ely_mondo_relaxed.owl 15 101991189 0 hg38 owl:Class MONDO:0016391 biolink:NamedThing neonatal diabetes mellitus Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. tmpte7i6ely_mondo_relaxed.owl NDM|congenital diabetes mellitus|diabetes mellitus syndrome in newborn infant DOID:11717|ICD9:775.1|NCIT:C99248|ICD10:P70.2|MedDRA:10028933|UMLS:C0158981|SCTID:49817004|Orphanet:224 owl:Class GO:2000155 biolink:NamedThing positive regulation of cilium-dependent cell motility Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility. tmpte7i6ely_mondo_relaxed.owl positive regulation of ciliary cell motility owl:Class GO:0030808 biolink:NamedThing regulation of nucleotide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpte7i6ely_mondo_relaxed.owl regulation of nucleotide anabolism|regulation of nucleotide biosynthesis|regulation of nucleotide synthesis|regulation of nucleotide formation owl:Class MONDO:0009387 biolink:NamedThing familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. tmpte7i6ely_mondo_relaxed.owl familial lipoprotein lipase deficiency with type I phenotype|Fredrickson type I hyperlipoproteinemia|mixed hyperglyceridemia|familial LPL deficiency|familial hyperlipoproteinemia type I|familial lipoprotein lipase deficiency (disorder) [ambiguous]|hyperchylomicronemia, familial|familial fat-induced hypertriglyceridemia|hyperlipoproteinemia, type I|LPL deficiency|Burger-Grutz syndrome|hypercholesterinaemic xanthomatosis|lipoprotein lipase deficiency, familial|hyperlipoproteinemia, type 1|familial hyperchylomicronemia|lipoprotein lipase deficiency|hyperlipoproteinemia type I|chylomicronemia, familial|endogenous hypertriglyceridaemia|hyperlipoproteinemia, type 1A|hyperlipemia, idiopathic, Burger-Grutz type|familial chylomiconemia syndrome|lipd deficiency|lipase D deficiency|Fredrickson type I lipaemia|hyperlipemia, essential familial|hyperchylomicronemia|type I hyperlipoproteinemia DOID:14118|MESH:D008072|NCIT:C84771|SCTID:275598004|Orphanet:309015|OMIM:238600|ICD10:E78.3|GARD:0012241|ICD9:272.3 https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency owl:Class CL:0002241 biolink:NamedThing pulmonary interstitial fibroblast A fibroblasts found in interstitial spaces in the pulmonary tract. Greater numbers of these cells are found in idiopathic pulmonary fibrosis. tmpte7i6ely_mondo_relaxed.owl pulmonary septal cell|pulmonary myofibroblast FMA:84467 tmeehan 2010-09-07T02:29:38Z cell owl:Class GO:1901859 biolink:NamedThing negative regulation of mitochondrial DNA metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolism|inhibition of mtDNA metabolic process|inhibition of mitochondrial DNA metabolism|down regulation of mtDNA metabolic process|negative regulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolism|inhibition of mitochondrial DNA metabolic process|down-regulation of mitochondrial DNA metabolic process|down-regulation of mtDNA metabolic process|down regulation of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolism|downregulation of mtDNA metabolic process|downregulation of mtDNA metabolism|down regulation of mitochondrial DNA metabolism|downregulation of mitochondrial DNA metabolic process|inhibition of mtDNA metabolism|down-regulation of mtDNA metabolism|negative regulation of mtDNA metabolism owl:Class HGNC:3482 biolink:NamedThing ETFB tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38070 biolink:NamedThing anti-arrhythmia drug A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres. tmpte7i6ely_mondo_relaxed.owl antiarrhythmic agent|anti-arrhythmia agent owl:Class UBERON:0011132 biolink:NamedThing intercarpal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024564 biolink:NamedThing cerebroretinal microangiopathy with calcifications and cysts 1 Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene. tmpte7i6ely_mondo_relaxed.owl CTC1 Coats plus syndrome|Crmcc|cerebroretinal microangiopathy with calcifications and cysts 1|Coats plus syndrome|CRMCC1|Coats plus syndrome caused by mutation in CTC1 OMIM:612199|Orphanet:313838 owl:Class HGNC:26169 biolink:NamedThing CTC1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022604 biolink:NamedThing regulation of cell morphogenesis Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. tmpte7i6ely_mondo_relaxed.owl positive regulation of cell shape and cell size|regulation of cell shape and cell size|negative regulation of cell shape and cell size owl:Class NCBITaxon:5501 biolink:NamedThing Coccidioides immitis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013546 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 2 A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. tmpte7i6ely_mondo_relaxed.owl TMEM70 defect|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency|MC5DN2|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|3-MGCA type IV (3-MGCA-4) (formerly)|TMEM70-related mitochondrial encephalo-cardio-myopathy|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency OMIM:614052|DOID:0060331|MESH:C567528|SCTID:718212006|ICD10:G71.3|Orphanet:1194|GARD:0012965 owl:Class HGNC:26050 biolink:NamedThing TMEM70 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12718 biolink:NamedThing VRK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015873 biolink:NamedThing Paget disease of the nipple Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. tmpte7i6ely_mondo_relaxed.owl mammary Paget disease|Paget's disease of the nipple|Paget's disease of nipple|nipple Paget's disease|Paget's disease, mammary|PD|Paget disease of the nipple|Paget disease of the breast NCIT:C3301|MedDRA:10033367|ONCOTREE:PD|SCTID:403946000|ICD10:C50.0|GARD:0007303|Orphanet:180275|UMLS:C1704323 owl:Class HP:0001710 biolink:NamedThing Conotruncal defect A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. tmpte7i6ely_mondo_relaxed.owl Conotruncal heart defects UMLS:C1853238 human_phenotype owl:Class MONDO:0021539 biolink:NamedThing hamartoma of skin appendage A hamartoma (disease) that involves the cutaneous appendage. tmpte7i6ely_mondo_relaxed.owl skin appendage hamartoma|cutaneous appendage hamartoma (disease) SCTID:399906000|UMLS:C1302712|NCIT:C5562|ICD9:759.6 owl:Class GO:0048636 biolink:NamedThing positive regulation of muscle organ development Any process that activates, maintains or increases the rate of muscle development. tmpte7i6ely_mondo_relaxed.owl up-regulation of muscle development|activation of muscle development|upregulation of muscle development|stimulation of muscle development|up regulation of muscle development owl:Class MONDO:0009346 biolink:NamedThing histidinuria due to a renal tubular defect tmpte7i6ely_mondo_relaxed.owl histidinuria-renal tubular defect syndrome|histidinuria due to a renal tubular defect MESH:C538321|UMLS:C0268642|ICD10:E70.8|OMIM:235830|Orphanet:2158|GARD:0002708 owl:Class MONDO:0023696 biolink:NamedThing Marinesco-Sjogren-like syndrome A disease with similar features to Marinesco-Sjogren syndrome. tmpte7i6ely_mondo_relaxed.owl Marinesco-Sjogren-like syndrome (MSLS)|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy|juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy MESH:C535913|UMLS:C0796036|GARD:0008745 https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls owl:Class HGNC:11281 biolink:NamedThing SRA1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30539 biolink:NamedThing DNAAF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010217 biolink:NamedThing de Sanctis-Cacchione syndrome A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. tmpte7i6ely_mondo_relaxed.owl xerodermic idiocy|de Sanctis-Cacchione syndrome Orphanet:1569|SCTID:414673004|OMIM:278800|UMLS:CN199649|ICD9:759.89|MESH:C535992|UMLS:C0265201|GARD:0008276|NCIT:C84666 https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome owl:Class GO:1905082 biolink:NamedThing regulation of mitochondrial translational elongation Any process that modulates the frequency, rate or extent of mitochondrial translational elongation. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrial translation elongation owl:Class UBERON:0006756 biolink:NamedThing median lingual swelling tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005544 biolink:NamedThing hippocampal sclerosis of aging Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus tmpte7i6ely_mondo_relaxed.owl EFO:0005678 owl:Class CL:0000959 biolink:NamedThing T2 B cell A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive. tmpte7i6ely_mondo_relaxed.owl T2 B lymphocyte|transitional stage 2 B cell|T2 B-cell|T2 B-lymphocyte T2 B cells are also reportedly CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. cell owl:Class HGNC:18340 biolink:NamedThing WDR19 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002333 biolink:NamedThing pulmonary trunk tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003452 biolink:NamedThing cochlear disorder Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). tmpte7i6ely_mondo_relaxed.owl disorder of cochlea|cochlea disease|disease or disorder of cochlea|disease of cochlea|cochlea disease or disorder MESH:D015834|DOID:5463|UMLS:C0009197 owl:Class CHEBI:33303 biolink:NamedThing chalcogen Any p-block element belonging to the group 16 family of the periodic table. tmpte7i6ely_mondo_relaxed.owl group 16 elements|Chalkogene|chalcogen|calcogenos|chalcogens|anfigeno|anfigenos|Chalkogen|chalcogene|group VI elements|calcogeno|chalcogenes owl:Class MONDO:0014696 biolink:NamedThing cerebrooculofacioskeletal syndrome 3 tmpte7i6ely_mondo_relaxed.owl cerebrooculofacioskeletal syndrome 3|cerebrooculofacioskeletal syndrome type 3|COFS3 UMLS:C1851443|Orphanet:191|MESH:C565035|Orphanet:1466|OMIM:616570 owl:Class UBERON:0013150 biolink:NamedThing future brain vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003232 biolink:NamedThing epithelium of knee tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12q15-q21.1 biolink:NamedThing 12q15-q21.1 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0007700 biolink:NamedThing hawkinsinuria Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. tmpte7i6ely_mondo_relaxed.owl 4-hydroxyphenylpyruvic acid dioxygenase deficiency|4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|4-HPPD deficiency|hawkinsinuria OMIM:140350|GARD:0005668|UMLS:C2931042|DOID:0111362|ICD10:E70.2|MESH:C535845|Orphanet:2118|SCTID:414380008 https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria owl:Class HGNC:5147 biolink:NamedThing HPD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014693 biolink:NamedThing Noonan syndrome 10 Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. tmpte7i6ely_mondo_relaxed.owl LZTR1 Noonan syndrome|Noonan syndrome 10|NS10|Noonan syndrome type 10|Noonan syndrome caused by mutation in LZTR1 UMLS:C4225280|OMIM:616564|DOID:0060588|Orphanet:648 owl:Class HGNC:6742 biolink:NamedThing LZTR1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001288 biolink:NamedThing kaolin dust Dust which is primarily composed of kaolinite particles. tmpte7i6ely_mondo_relaxed.owl kaolinite dust owl:Class CL:0000972 biolink:NamedThing class switched memory B cell A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface. tmpte7i6ely_mondo_relaxed.owl class switched memory B-lymphocyte|class switched memory B lymphocyte|class switched memory B-cell Per DSD: Class switched memory B cells are also reportedly CD48-positive, CD229-positive, and CD352-positive. cell owl:Class MONDO:8000006 biolink:NamedThing WHIM syndrome 1 A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). tmpte7i6ely_mondo_relaxed.owl WHIM syndrome|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|WILM|Warts, hypogammaglobulinemia, infections, and myelokathexis|Warts-infections-leukopenia-myelokatexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|WHIMS OMIM:193670|Orphanet:51636|UMLS:C0472817|ICD10:D81.8|SCTID:234571003|DOID:0060591|GARD:0009297|MESH:C536697 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome owl:Class MONDO:0001499 biolink:NamedThing retroperitoneal lymphoma A lymphoma that involves the retroperitoneal space. tmpte7i6ely_mondo_relaxed.owl retroperitoneal space lymphoma|primary retroperitoneal lymphoma|retroperitoneal lymphoma|lymphoma of retroperitoneal space DOID:12339|SCTID:422853008|NCIT:C7353|UMLS:C1335779 owl:Class HGNC:2916 biolink:NamedThing DLX3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001420 biolink:NamedThing trigeminal nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure. tmpte7i6ely_mondo_relaxed.owl trigeminal nerve tumors|trigeminal nerve neoplasms|cranial nerve V neoplasms|trigeminal nerve tumor|neoplasm of the trigeminal nerve|cranial nerve V tumors|tumor of fifth cranial nerve|tumor of the trigeminal nerve|fifth cranial nerve neoplasm|neoplasm of the fifth cranial nerve|tumors, cranial nerve V|tumor of the fifth cranial nerve|trigeminal nerve neoplasm (disease)|trigeminal nerve neoplasm|neoplasms, cranial nerve V|neoplasm of trigeminal nerve|fifth cranial nerve tumor|neoplasm of fifth cranial nerve|tumor of trigeminal nerve UMLS:C1263897|DOID:1201|ICD9:239.7|NCIT:C5122|SCTID:126971002 owl:Class UBERON:0002811 biolink:NamedThing left frontal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007967 biolink:NamedThing melanoma and neural system tumor syndrome Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). tmpte7i6ely_mondo_relaxed.owl melanoma astrocytoma syndrome|melanoma-astrocytoma syndrome|melanoma and neural system tumor syndrome SCTID:717968005|DOID:0111511|GARD:0008468|OMIM:155755|UMLS:C1835042|MESH:C536149|Orphanet:252206 owl:Class GO:0045786 biolink:NamedThing negative regulation of cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. tmpte7i6ely_mondo_relaxed.owl down-regulation of progression through cell cycle|downregulation of progression through cell cycle|negative regulation of cell cycle progression|negative regulation of progression through cell cycle|inhibition of progression through cell cycle|down regulation of progression through cell cycle owl:Class NCBITaxon:188544 biolink:NamedThing Demodex tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0002681 biolink:NamedThing kidney cortical cell tmpte7i6ely_mondo_relaxed.owl terryh 2011-10-25T03:49:41Z cell owl:Class MONDO:0033622 biolink:NamedThing spermatogenic failure 44 tmpte7i6ely_mondo_relaxed.owl SPGF44 OMIM:619044 owl:Class HGNC:28514 biolink:NamedThing CEP112 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018173 biolink:NamedThing acute opioid poisoning Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. tmpte7i6ely_mondo_relaxed.owl ICD10:T40.0|ICD10:T40.1|ICD10:T40.2|Orphanet:35889|UMLS:CN227277 owl:Class HGNC:9585 biolink:NamedThing PTCH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014618 biolink:NamedThing retinitis pigmentosa 71 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 71|retinitis pigmentosa caused by mutation in IFT172|retinitis pigmentosa 71|IFT172 retinitis pigmentosa|RP71 UMLS:C4225342|ICD10:H35.5|DOID:0110363|OMIM:616394 owl:Class HGNC:30391 biolink:NamedThing IFT172 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014488 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 5 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. tmpte7i6ely_mondo_relaxed.owl NIDDM5|diabetes mellitus, noninsulin-dependent, 5|diabetes mellitus, noninsulin-dependent, type 5|TBC1D4 type 2 diabetes mellitus|type 2 diabetes mellitus caused by mutation in TBC1D4 UMLS:C4015183|OMIM:616087 owl:Class HGNC:19165 biolink:NamedThing TBC1D4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7549 biolink:NamedThing MYBPC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008211 biolink:NamedThing pseudoleprechaunism syndrome, Patterson type Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. tmpte7i6ely_mondo_relaxed.owl Patterson's leprechaunoid syndrome|Patterson syndrome|Patterson pseudoleprechaunism syndrome MESH:C536310|GARD:0004259|ICD10:E34.8|Orphanet:2976|UMLS:C1868546|OMIM:169170 owl:Class MONDO:0032617 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 11 tmpte7i6ely_mondo_relaxed.owl MC1DN11|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 OMIM:618234 owl:Class HGNC:18828 biolink:NamedThing NDUFAF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022859 biolink:NamedThing cor biloculare A congenital anatomic anomaly in which the heart has only two chambers. tmpte7i6ely_mondo_relaxed.owl absence of atrial and ventricular septa|Cor Biloculare|cor biloculare|TWO-chambered heart UMLS:C0152238|ICD9:745.7|NCIT:C124591|SCTID:81990004|GARD:0006193 https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare owl:Class MONDO:0013619 biolink:NamedThing nephrotic syndrome, type 6 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 6|NPHS6|nephrotic syndrome caused by mutation in PTPRO|PTPRO nephrotic syndrome OMIM:614196|UMLS:C3280100|DOID:0080384 owl:Class HGNC:9678 biolink:NamedThing PTPRO tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009632 biolink:NamedThing root of cervical nerve tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000022 biolink:NamedThing cardiac septum cell Any native cell that is part of a cardiac septum. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-24T23:17:07Z cell owl:Class MONDO:0054833 biolink:NamedThing charcot-marie-tooth disease, axonal, type 2DD tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD|Charcot-Marie-tooth disease, axonal, type 2DD OMIM:618036|Orphanet:521414|DOID:0111558|UMLS:CN248781 owl:Class HGNC:799 biolink:NamedThing ATP1A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:32495 biolink:NamedThing D-phenylalaninium An optically active form of phenylalaninium having D-configuration. tmpte7i6ely_mondo_relaxed.owl (1R)-1-carboxy-2-phenylethanaminium|D-phenylalaninium|D-phenylalanine cation owl:Class MONDO:0032620 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 15 tmpte7i6ely_mondo_relaxed.owl MC1DN15|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 OMIM:618237 owl:Class HGNC:21034 biolink:NamedThing NDUFAF4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005564 biolink:NamedThing gonad primordium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002618 biolink:NamedThing root of trochlear nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008162 biolink:NamedThing otitis media, susceptibility to tmpte7i6ely_mondo_relaxed.owl otitis media, susceptibility to|come/Rom|otitis Media, chronic/recurrent|OMS OMIM:166760 owl:Class UBERON:0018144 biolink:NamedThing cervical rib tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004203 biolink:NamedThing cortical collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003427 biolink:NamedThing bronchus adenoma A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. tmpte7i6ely_mondo_relaxed.owl adenoma of bronchus|papillary adenoma of type II pneumocytes|type II pneumocyte adenoma|peripheral papillary tumor of type II pneumocytes|bronchial adenoma NOS (morphologic abnormality)|lung papillary adenoma|bronchus adenoma|adenoma, bronchial, benign|bronchial adenoma|adenoma of the bronchus ICDO:8260/0|UMLS:C0149845|NCIT:C3494|DOID:5391 owl:Class UBERON:0004184 biolink:NamedThing prostate gland stroma tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000708 biolink:NamedThing ureter adventitial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001119 cell owl:Class OBO:CHR_9606-chr18q biolink:NamedThing 18q (Human) tmpte7i6ely_mondo_relaxed.owl 80373285 18500000 hg38 owl:Class UBERON:0009548 biolink:NamedThing hepatic sinusoid of left of lobe of liver tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2396 biolink:NamedThing CRYBA4 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:77956 biolink:NamedThing L-erythro-sphingosine(1+) A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl (2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|L-erythro-sphing-4-enine|L-erythro-sphing-4-enine(1+) owl:Class CHEBI:57756 biolink:NamedThing sphingosine(1+) The cationic sphingoid resulting from the protonation of the amino group of sphingosine. tmpte7i6ely_mondo_relaxed.owl (2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|sphing-4-enine owl:Class OBO:CHR_9606-chr11p15-p14 biolink:NamedThing 11p15-p14 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0002858 biolink:NamedThing ovary rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma of the ovary|rhabdomyosarcoma (disease) of ovary|rhabdomyosarcoma of ovary|ovary rhabdomyosarcoma (disease)|ovarian rhabdomyosarcoma UMLS:C1335176|DOID:4059|NCIT:C5236 owl:Class CHEBI:63332 biolink:NamedThing EC 3.1.3.1 (alkaline phosphatase) inhibitor An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1). tmpte7i6ely_mondo_relaxed.owl alkaline phosphohydrolase inhibitor|alkaline phosphatase inhibitors|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitor|glycerophosphatase inhibitor|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitors|alkaline phosphohydrolase inhibitors|EC 3.1.3.1 inhibitor|alkaline phosphatase (EC 3.1.3.1) inhibitor|alkaline phenyl phosphatase inhibitor|alkaline phosphatase inhibitor|glycerophosphatase inhibitors|alkaline phosphomonoesterase inhibitor|EC 3.1.3.1 (alkaline phosphatase) inhibitors|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitor|alkaline phosphomonoesterase inhibitors|EC 3.1.3.1 inhibitors|alkaline phosphatase (EC 3.1.3.1) inhibitors|phosphomonoesterase inhibitors|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitors|alkaline phenyl phosphatase inhibitors|phosphomonoesterase inhibitor owl:Class MONDO:0022454 biolink:NamedThing angiosarcoma of the scalp Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy. tmpte7i6ely_mondo_relaxed.owl scalp angiosarcoma (disease)|angiosarcoma (disease) of scalp GARD:0005814 https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp owl:Class HGNC:15517 biolink:NamedThing XYLT2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0022293 biolink:NamedThing reproductive gland secretion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012336 biolink:NamedThing cataract 22 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene. tmpte7i6ely_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in CRYBB3|CTRCT22|cataract 22, multiple types|autosomal recessive congenital nuclear cataract 2|CATCN2|cataract, congenital nuclear, autosomal recessive 2|CRYBB3 early-onset non-syndromic cataract Orphanet:98991|MESH:C565725|DOID:0110268|Orphanet:91492|OMIM:609741|ICD10:Q12.0|Orphanet:98988|UMLS:C1857853 owl:Class HGNC:2400 biolink:NamedThing CRYBB3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7703 biolink:NamedThing NDUFB8 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0008321 biolink:NamedThing Reduced factor X activity Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). tmpte7i6ely_mondo_relaxed.owl Decreased factor x activity|Factor X deficiency UMLS:C4024702|UMLS:C0015519|MSH:D005171|SNOMEDCT_US:76642003 human_phenotype owl:Class GO:0002183 biolink:NamedThing cytoplasmic translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016357 biolink:NamedThing dysplastic cortical hyperostosis tmpte7i6ely_mondo_relaxed.owl Kozlowski-Tsuruta syndrome GARD:0002022|ICD10:M89.8|UMLS:CN201209|Orphanet:2204 https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis owl:Class MONDO:0004984 biolink:NamedThing basal-like breast carcinoma A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. tmpte7i6ely_mondo_relaxed.owl basal-like breast cancer|basal-like breast carcinoma|basal-like subtype of breast carcinoma UMLS:C3642347|EFO:0000281|NCIT:C53558 owl:Class NCBITaxon:747 biolink:NamedThing Pasteurella multocida tmpte7i6ely_mondo_relaxed.owl Pasteurella gallicida|Pasteurella cholerae-gallinarum|Micrococcus gallicidus|Bacterium multocidum GC_ID:11|PMID:15184562 ncbi_taxonomy owl:Class MONDO:0032606 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 2 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2|MC1DN2 OMIM:618222 owl:Class MONDO:0014678 biolink:NamedThing intellectual disability, autosomal dominant 39 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 39|mental retardation, autosomal dominant type 39|MYT1L autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 39|chromosome 2P25.3 Duplication syndrome|chromosome 2P25.3 deletion syndrome|autosomal dominant intellectual disability 39|intellectual disability, autosomal dominant 39|autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L|MRD39|mental retardation, autosomal dominant 39|autosomal dominant non-syndromic intellectual disability 39 UMLS:C4225296|DOID:0070069|Orphanet:178469|OMIM:616521 owl:Class MONDO:0015649 biolink:NamedThing micturation-induced seizures Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200059|ICD10:G40.8|Orphanet:166430 owl:Class GO:0060073 biolink:NamedThing micturition The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. tmpte7i6ely_mondo_relaxed.owl urine voiding|urination owl:Class MONDO:0018109 biolink:NamedThing fulminant viral hepatitis Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV. tmpte7i6ely_mondo_relaxed.owl Orphanet:35063|ICD10:K72 owl:Class HGNC:1546 biolink:NamedThing SERPINH1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009578 biolink:NamedThing myelencephalon sulcus limitans tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024539 biolink:NamedThing choroidal dystrophy, central areolar, 1 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpte7i6ely_mondo_relaxed.owl choroidal dystrophy, central areolar|central areolar choroidal dystrophy caused by mutation in GUCY2D|choroidal dystrophy, central areolar, 1|choroidal sclerosis|GUCY2D central areolar choroidal dystrophy|CACD1 Orphanet:75377|OMIM:215500 owl:Class MONDO:0011326 biolink:NamedThing citrullinemia, type II, adult-onset Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. tmpte7i6ely_mondo_relaxed.owl CTLN2|citrullinemia, type II, adult-onset|citrullinemia type II|adult-onset citrullinemia type II|citrin deficiency|citrullinemia, type II, ADULT-onset|citrullinemia type 2|adult-onset citrullinemia type 2 OMIM:603471|GARD:0010215|DOID:0070342|Orphanet:247585 TODO - merge into parent https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii owl:Class HGNC:10983 biolink:NamedThing SLC25A13 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014453 biolink:NamedThing gustatory epithelium of palate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014597 biolink:NamedThing immunodeficiency 39 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency 39|IRF7 primary immunodeficiency disease|primary immunodeficiency disease caused by mutation in IRF7|IMD39|immunodeficiency type 39 UMLS:C4225358|OMIM:616345 owl:Class HGNC:6122 biolink:NamedThing IRF7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012962 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 2 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene. tmpte7i6ely_mondo_relaxed.owl MVCD2|EPO microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 2|microvascular complications of diabetes, susceptibility caused by mutation in EPO|proliferative retinopathy, diabetic, susceptibility to|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 owl:Class MONDO:0010233 biolink:NamedThing heterotopia, periventricular, X-linked dominant tmpte7i6ely_mondo_relaxed.owl periventricular nodular heterotopia 1|heterotopia, periventricular, X-linked dominant|X-linked periventricular heterotopia|heterotopia, periventricular, Ehlers-Danlos variant|periventricular nodular heterotopia 4, formerly|bilateral periventricular nodular heterotopia|periventricular nodular heterotopia 4|NHBP|heterotopia, familial nodular|heterotopia periventricular X-linked dominant|BPNH|nodular heterotopia, bilateral periventricular|nodular heterotopia bilateral periventricular|heterotopia, periventricular nodular, with Frontometaphyseal dysplasia|heterotopia familial nodular|PVNH1 SCTID:448227009|Orphanet:98892|GARD:0007371|ICD9:742.4|Orphanet:2149|OMIM:300049 owl:Class MONDO:0005911 biolink:NamedThing pharyngoconjunctival fever A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. tmpte7i6ely_mondo_relaxed.owl pharyngo-conjunctival fever|pharyngoconjunctival fever|Adenoviral pharyngoconjunctivitis NCIT:C34924|SCTID:70385007|DOID:13801|UMLS:C0031351|MESH:D000258|EFO:0007434|ICD9:077.2 owl:Class MONDO:0011480 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 20 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 20|DFNA26|DFNA20|autosomal dominant deafness 20|ACTG1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|autosomal dominant nonsyndromic deafness type 20|deafness, autosomal dominant 20|deafness, autosomal dominant type 20 OMIM:604717|DOID:0110550|ICD10:H90.3|Orphanet:90635|MESH:C565754|UMLS:C1858172 owl:Class UBERON:0011278 biolink:NamedThing nail of pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class N66d1cd1e1d1a4046bef9254b9a4f9021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003882 biolink:NamedThing central nervous system fibrosarcoma A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl CNS fibrosarcoma|fibrosarcoma of the central nervous system|fibrosarcoma of central nervous system|central nervous system fibrosarcoma (disease)|fibrosarcoma of CNS|central nervous system fibrosarcoma|fibrosarcoma of the CNS UMLS:C1332879|NCIT:C5465|DOID:6451 owl:Class UBERON:0011756 biolink:NamedThing male genital swelling tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001944 biolink:NamedThing vasculature development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. tmpte7i6ely_mondo_relaxed.owl vascular system development owl:Class MONDO:0018736 biolink:NamedThing kaposiform lymphangiomatosis A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells. tmpte7i6ely_mondo_relaxed.owl KLA Orphanet:464329|ICD10:D18.1 Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784] owl:Class CL:1000510 biolink:NamedThing kidney glomerular epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001023 cell owl:Class UBERON:0004188 biolink:NamedThing glomerular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002429 biolink:NamedThing CD69-positive double-positive thymocyte A double-positive thymocyte that is CD69-positive and has begun positive selection. tmpte7i6ely_mondo_relaxed.owl T.DP69+.Th tmeehan 2010-10-21T02:11:52Z cell owl:Class GO:0043368 biolink:NamedThing positive T cell selection The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death. tmpte7i6ely_mondo_relaxed.owl positive T-lymphocyte selection|positive T lymphocyte selection|positive T-cell selection owl:Class CL:1000718 biolink:NamedThing kidney inner medulla collecting duct principal cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001134 cell owl:Class MONDO:0012349 biolink:NamedThing spondylocostal dysostosis 3, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene. tmpte7i6ely_mondo_relaxed.owl spondylocostal dysostosis 3|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCDO3|LFNG autosomal recessive spondylocostal dysostosis|SCOD3|spondylocostal dysostosis 3, autosomal recessive Orphanet:2311|GARD:0004973|UMLS:C1853296|OMIM:609813 owl:Class HGNC:6560 biolink:NamedThing LFNG tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034763 biolink:NamedThing hindbrain commissure tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002083 biolink:NamedThing type I cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces norepinephrine. tmpte7i6ely_mondo_relaxed.owl noradrenergic chromaffin cell FMA:69321 tmeehan 2010-07-14T10:12:24Z cell owl:Class MONDO:0005012 biolink:NamedThing cutaneous melanoma A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of skin stage unspecified|malignant ear melanoma|malignant scalp melanoma|cutaneous (skin) melanoma|melanoma of skin|skin, melanoma|malignant cutaneous melanoma|malignant melanoma of skin of lower limb|cutaneous melanoma|zone of skin melanoma|melanoma of the skin|malignant trunk melanoma|malignant lip melanoma|malignant upper limb melanoma|melanoma (disease) of zone of skin|malignant melanoma of skin of trunk except scrotum|zone of skin melanoma (disease)|malignant melanoma of skin of upper limb|cutaneous melanoma (disease)|malignant melanoma of ear and/or external auricular canal|malignant neck melanoma|malignant melanoma of skin|malignant lower limb melanoma|malignant melanoma (of skin), stage unspecified|skin melanoma cutaneous melanoma (disease) UMLS:C0153536|ICD9:172.8|OMIM:615134|OMIM:613099|OMIM:613972|OMIM:615848|NCIT:C3510|OMIM:155600|ICD9:172.3|UMLS:C0151779|ICD10:C43.2|SCTID:93655004|ICD10:C43.4|ICD9:172.0|OMIM:609048|ICD9:172.4|ICD9:172.2|OMIM:614456|OMIM:608035|ICD10:C43.0|ONCOTREE:SKCM|ICD10:C43.9|ICD9:172|HP:0012056|ICD9:172.5|UMLS:C0153535|DOID:8923|EFO:0000389|ICD9:172.9|OMIM:612263|ICD10:C43 owl:Class UBERON:0039228 biolink:NamedThing sigmoid vein tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001646 biolink:NamedThing amorphous solid A solid material which does not have a regularly organised internal structure. tmpte7i6ely_mondo_relaxed.owl owl:Class Ndaa1815b145f46359b7da6a5f2a0daa3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004099 biolink:NamedThing adult cystic teratoma A cystic teratoma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult cystic teratoma|cystic teratoma of adults DOID:7079|NCIT:C9012|UMLS:C1368888 owl:Class MONDO:0014269 biolink:NamedThing combined oxidative phosphorylation deficiency 19 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 19|COXPD19|LYRM4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|combined oxidative phosphorylation deficiency type 19 DOID:0111476|OMIM:615595|UMLS:C3810055|Orphanet:397593 owl:Class HGNC:21365 biolink:NamedThing LYRM4 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36908 biolink:NamedThing argon molecular entity tmpte7i6ely_mondo_relaxed.owl argon compounds|argon molecular entity|argon molecular entities owl:Class GO:0099571 biolink:NamedThing postsynaptic cytoskeleton The portion of the cytoskeleton contained within the postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014433 biolink:NamedThing Bardet-Biedl syndrome 4 tmpte7i6ely_mondo_relaxed.owl BBS4|Bardet-Biedl syndrome type 4|Bardet-Biedl syndrome 4 OMIM:209900|EFO:0009024|OMIM:615982|DOID:0110126|ICD10:Q87.89|MESH:C537912|UMLS:C2936864|Orphanet:110|GARD:0000823 https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 owl:Class HGNC:969 biolink:NamedThing BBS4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008281 biolink:NamedThing tooth bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002996 biolink:NamedThing cavernous sinus meningioma A meningioma that affects the cavernous sinus. tmpte7i6ely_mondo_relaxed.owl cavernous sinus meningioma (disease)|meningioma of the cavernous sinus|meningioma (disease) of cavernous sinus|meningioma of cavernous sinus DOID:4435|NCIT:C5268|UMLS:C1332865 owl:Class MONDO:0026721 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 30 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30|MC1DN30 OMIM:301021 owl:Class UBERON:0012480 biolink:NamedThing cloacal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4237 biolink:NamedThing GFI1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014701 biolink:NamedThing extraembryonic vascular system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13394 biolink:NamedThing NPHS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032627 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 23 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23|MC1DN23 OMIM:618244 owl:Class MONDO:0011632 biolink:NamedThing amyotrophic lateral sclerosis type 21 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis type 21|amyotrophic lateral sclerosis 21|amyotrophic lateral sclerosis caused by mutation in MATR3|myopathy, distal, 2|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|ALS21|MATR3 amyotrophic lateral sclerosis|vocal cord and pharyngeal dysfunction with distal myopathy|myopathy, distal, 2, formerly NCIT:C168755|Orphanet:600|DOID:0060212|OMIM:606070|Orphanet:803 owl:Class HGNC:6912 biolink:NamedThing MATR3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022560 biolink:NamedThing benign metastasizing leiomyoma A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord. tmpte7i6ely_mondo_relaxed.owl GARD:0010776 owl:Class UBERON:5103625 biolink:NamedThing manual digit 5 digitopodial skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017803 biolink:NamedThing primary progressive apraxia of speech tmpte7i6ely_mondo_relaxed.owl PPAOS Orphanet:314566|UMLS:CN203766 owl:Class HP:0002072 biolink:NamedThing Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. tmpte7i6ely_mondo_relaxed.owl Choreatic disease|Choreic movements|Choreiform movements UMLS:C0008489|SNOMEDCT_US:271700006|MSH:D002819|UMLS:C4020858 HP:0002397 human_phenotype owl:Class MONDO:0013731 biolink:NamedThing MEGF10-Related Myopathy tmpte7i6ely_mondo_relaxed.owl MEGF10 Myopathy|A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.|EMARDD|early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|MEGF10-Related Myopathy|early-onset myopathy, areflexia, respiratory distress and dysphagia|myopathy, areflexia, respiratory distress, and dysphagia, early-onset|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:614399|GARD:0012199|ICD10:G71.2|DOID:0111333|UMLS:C3280679|Orphanet:439212|Orphanet:98920 owl:Class HGNC:26114 biolink:NamedThing EDC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022755 biolink:NamedThing chromosome 18 mosaic monosomy tmpte7i6ely_mondo_relaxed.owl Mosaic monosomy 18|Mosaic monosomy chromosome 18|monosomy 18 mosaicism MESH:C536581|GARD:0003726|UMLS:CN036727 owl:Class MONDO:0018784 biolink:NamedThing pediatric multiple sclerosis Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. tmpte7i6ely_mondo_relaxed.owl MS pediatric|multiple sclerosis, pediatric|pediatric MS Orphanet:477738|GARD:0010443|UMLS:CN037005 https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis owl:Class ENVO:00000106 biolink:NamedThing grassland area An area in which grasses (Graminae) are a significant component of the vegetation. tmpte7i6ely_mondo_relaxed.owl grazing area|herbaceous area owl:Class ENVO:01001206 biolink:NamedThing grassland ecosystem An ecosystem in which grasses (Graminae) are the dominant form of vegetation and determine the system's structure and dynamics. tmpte7i6ely_mondo_relaxed.owl Grassland|down|grazing area|herbaceous area|downland|GRASSLAND|downs|grassland|glade owl:Class HGNC:5293 biolink:NamedThing HTR2A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4392 biolink:NamedThing GNAS tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000001 biolink:NamedThing peripheral blood mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-02-11T17:29:04Z cell owl:Class MONDO:0030859 biolink:NamedThing COACH syndrome 2 tmpte7i6ely_mondo_relaxed.owl COACH2 OMIM:619111 owl:Class HGNC:2711 biolink:NamedThing DCTN1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008883 biolink:NamedThing osteoid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021208 biolink:NamedThing endocrine alopecia tmpte7i6ely_mondo_relaxed.owl UMLS:C0002176|ICD9:704.09|SCTID:54539003 owl:Class ENVO:01000993 biolink:NamedThing manufacturing process A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1637 biolink:NamedThing Listeria tmpte7i6ely_mondo_relaxed.owl Listerella PMID:10408878|GC_ID:11|PMID:9226919|PMID:9542083|PMID:1899799|PMID:15709360|PMID:8782674|PMID:8427807|PMID:1713054 ncbi_taxonomy owl:Class GO:0060561 biolink:NamedThing apoptotic process involved in morphogenesis Any apoptotic process that contributes to the shaping of an anatomical structure. tmpte7i6ely_mondo_relaxed.owl apoptosis involved in development|apoptosis involved in morphogenesis|morphogenetic apoptosis owl:Class UBERON:0005033 biolink:NamedThing mucosa of gallbladder tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:12542 biolink:NamedThing Omsk hemorrhagic fever virus tmpte7i6ely_mondo_relaxed.owl Omsk haemorrhagic fever virus|Omsk haemorrhagic fever virus OHF GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007158 biolink:NamedThing lumen of anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001548 biolink:NamedThing quality of a liquid A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. tmpte7i6ely_mondo_relaxed.owl liquidity owl:Class MONDO:0014408 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene. tmpte7i6ely_mondo_relaxed.owl megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|MPPH3|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2 UMLS:C4014742|OMIM:615938|Orphanet:83473 owl:Class UBERON:0003529 biolink:NamedThing respiratory system lymphatic vessel endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0001786 biolink:NamedThing regulation of behavior "Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795] tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007524 biolink:NamedThing autosomal dominant Ehlers-Danlos syndrome, vascular type The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. tmpte7i6ely_mondo_relaxed.owl EDSVASC|autosomal dominant Ehlers-Danlos syndrome, vascular type|autosomal dominant type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, type IV, autosomal dominant|Ehlers-Danlos syndrome, Ecchymotic type|Ehlers-Danlos syndrome, sack-Barabas type|EDS 4|Ehlers-Danlos syndrome, arterial type DOID:14756|Orphanet:286|OMIM:130050 owl:Class MONDO:0013774 biolink:NamedThing trigonocephaly 2 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene. tmpte7i6ely_mondo_relaxed.owl trigonocephaly type 2|isolated trigonocephaly caused by mutation in FREM1|FREM1 isolated trigonocephaly|trigonocephaly 2|craniosynostosis, metopic|TRIGNO2 OMIM:614485|Orphanet:3366 owl:Class CHEBI:59517 biolink:NamedThing DNA synthesis inhibitor Any substance that inhibits the synthesis of DNA. tmpte7i6ely_mondo_relaxed.owl DNA synthesis inhibitors owl:Class HGNC:4651 biolink:NamedThing GTF2E2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002763 biolink:NamedThing urethral verrucous carcinoma A verrucous carcinoma that involves the urethra. tmpte7i6ely_mondo_relaxed.owl urethral verrucous carcinoma|urethra verrucous carcinoma NCIT:C39874|UMLS:C1519827|DOID:3749 owl:Class CL:0000179 biolink:NamedThing progesterone secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class CHEBI:42724 biolink:NamedThing (R)-amphetamine A 1-phenylpropan-2-amine that has R configuration. tmpte7i6ely_mondo_relaxed.owl (2R)-1-phenylpropan-2-amine|(-)-amphetamine|levamfetamine|(R)-alpha-methylphenethylamine|(R)-amphetamine|(R)-alpha-methylbenzeneethanamine|levamphetamine|(-)-phenylisopropylamine owl:Class MONDO:0018756 biolink:NamedThing euthyroid Graves orbitopathy tmpte7i6ely_mondo_relaxed.owl euthyroid Graves ophthalmopathy ICD10:H05.2|Orphanet:466682 Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970 owl:Class GO:1903726 biolink:NamedThing negative regulation of phospholipid metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process. tmpte7i6ely_mondo_relaxed.owl inhibition of phospholipid metabolic process|negative regulation of phospholipid metabolism|down regulation of phospholipid metabolism|downregulation of phospholipid metabolic process|inhibition of phospholipid metabolism|down-regulation of phospholipid metabolism|downregulation of phospholipid metabolism|down regulation of phospholipid metabolic process|down-regulation of phospholipid metabolic process owl:Class MONDO:0012313 biolink:NamedThing short QT syndrome type 2 Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpte7i6ely_mondo_relaxed.owl short QT syndrome 2|KCNQ1 short QT syndrome|short QT syndrome caused by mutation in KCNQ1|SQT2|short QT syndrome type 2 OMIM:609621|MESH:C566505|UMLS:C1865019 owl:Class N528f02b35b4e47a1bd1b9eb2c4576a24 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0004308 biolink:NamedThing Ventricular arrhythmia tmpte7i6ely_mondo_relaxed.owl Ventricular arrhythmias UMLS:C0085612|SNOMEDCT_US:44103008 peter 2008-02-20T01:28:00Z human_phenotype owl:Class UBERON:0013238 biolink:NamedThing future glans tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013910 biolink:NamedThing hypogonadotropic hypogonadism 8 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene. tmpte7i6ely_mondo_relaxed.owl KISS1R hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in KISS1R|hypogonadotropic hypogonadism 8 with or without anosmia|HH8 UMLS:C3553841|OMIM:614837|Orphanet:478|DOID:0090074|ICD10:E23.0 owl:Class HGNC:4510 biolink:NamedThing KISS1R tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008858 biolink:NamedThing pyloric canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005641 biolink:NamedThing aleutian mink disease A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. tmpte7i6ely_mondo_relaxed.owl Aleutian disease|Aleutian mink disease virus caused disease or disorder|Aleutian mink disease virus infectious disease|Aleutian mink disease virus disease or disorder MESH:D000453|UMLS:C0002016|EFO:0007139|DOID:2934|SCTID:62251004|ICD9:079.89 owl:Class UBERON:0010334 biolink:NamedThing maxillary process mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000946 biolink:NamedThing cardial valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001678 biolink:NamedThing intestinal tuberculosis A tuberculosis that involves the intestine. tmpte7i6ely_mondo_relaxed.owl tuberculosis of intestine|intestine tuberculosis ICD9:014.8|SCTID:60136008|DOID:13282|ICD9:014.80|UMLS:C0275911 owl:Class UBERON:0009617 biolink:NamedThing head paraxial mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035898 biolink:NamedThing parathyroid hormone secretion The regulated release of parathyroid hormone into the circulatory system. tmpte7i6ely_mondo_relaxed.owl PTH secretion|parathormone secretion|parathyrin secretion owl:Class MONDO:0000586 biolink:NamedThing autoimmune disorder of exocrine system A hypersensitivity reaction type II disease that involves the exocrine system. tmpte7i6ely_mondo_relaxed.owl exocrine system autoimmune disease|exocrine system hypersensitivity reaction type II disease DOID:0060029 owl:Class MONDO:0008316 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal dominant tmpte7i6ely_mondo_relaxed.owl Protein C deficiency, acquired|Proc deficiency, autosomal dominant|THPH3|Protein C deficiency, autosomal dominant|thrombophilia due to protein C deficiency, autosomal dominant|thrombophilia due to PROTEIN C deficiency, autosomal dominant OMIM:176860|Orphanet:745 owl:Class HGNC:6949 biolink:NamedThing MCM6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006011 biolink:NamedThing hyaloid vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011191 biolink:NamedThing ophthalmic vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023682 biolink:NamedThing tympanic paraganglioma A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss. tmpte7i6ely_mondo_relaxed.owl Glomus tympanicum tumor|tympanic paraganglioma|Tympanic Paraganglioma|Glomus Tympanicum Tumors|Tympanic paraganglioma|Tumors, Glomus Tympanicum|Glomus Tympanicum Tumor|Glomus tympanicum paraganglioma|Tumor, Glomus Tympanicum SCTID:253031000|MESH:D043604|NCIT:C8428|GTR:AN0102048|GTR:AN0102047|UMLS:C0474820 owl:Class HP:0010566 biolink:NamedThing Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:51398009|MSH:D006222|SNOMEDCT_US:400006008|UMLS:C0018552 sandra1 2009-10-16T02:51:16Z human_phenotype owl:Class MONDO:0018092 biolink:NamedThing Vogt-Koyanagi-Harada disease A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. tmpte7i6ely_mondo_relaxed.owl Vogt-Koyanagi-Harada syndrome|VKH syndrome|Vogt-Koyanagi syndrome|Harada's disease|uveomeningoencephalitic syndrome|VKH disease|Uveomenigitic syndrome DOID:12297|ICD10:H20.82|ICD10:H30.81|ICD10:H20.8|UMLS:C0042170|SCTID:193497004|Orphanet:3437|GARD:0007862|ICD10:H30.8|NCIT:C85218|MESH:D014607|ICD9:364.24|ICD9:363.22 https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease owl:Class MONDO:0006694 biolink:NamedThing cerebral atherosclerosis Atherosclerosis of the cerebral vasculature. tmpte7i6ely_mondo_relaxed.owl cerebral atherosclerosis MedDRA:1008095|EFO:1000860|DOID:12720|UMLS:C0007775|ICD10:I67.2|ICD9:437.0|SCTID:55382008|NCIT:C34459 owl:Class NCIT:C16152 biolink:NamedThing HER2/Neu Status tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003527 biolink:NamedThing kidney capillary tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005158 biolink:NamedThing parenchyma of central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031653 biolink:NamedThing Abnormal heart valve physiology Any functional abnormality of a cardiac valve. tmpte7i6ely_mondo_relaxed.owl 2017-12-17 15:21:49+00:00 peter human_phenotype owl:Class MONDO:0004853 biolink:NamedThing gonococcal endophthalmia tmpte7i6ely_mondo_relaxed.owl ICD9:098.42|ICD10:A54.39|SCTID:111807001|DOID:9698|UMLS:C0153213 owl:Class NCBITaxon:1980418 biolink:NamedThing Phenuiviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010399 biolink:NamedThing spleen trabecular artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009759 biolink:NamedThing mosaic variegated aneuploidy syndrome 1 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. tmpte7i6ely_mondo_relaxed.owl MOSAIC variegated aneuploidy syndrome 1|BUB1B mosaic variegated aneuploidy syndrome|mosaic variegated aneuploidy syndrome type 1|MVA syndrome|MVA1|Mosaic variegated aneuploidy syndrome type 1|mosaic variegated aneuploidy syndrome 1|mosaic variegated aneuploidy syndrome caused by mutation in BUB1B OMIM:257300|DOID:0080141|UMLS:CN031748 owl:Class MONDO:0018920 biolink:NamedThing peripartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. tmpte7i6ely_mondo_relaxed.owl antepartum peripartum cardiomyopathy|postpartum peripartum cardiomyopathy|peripartum cardiomyopathy|Meadows' syndrome|postpartum cardiomyopathy UMLS:C0269972|DOID:9997|ICD10:O90.3|ICD9:674.5|GARD:0000220|EFO:0002628|ICD9:674.54|MedDRA:10049430|SCTID:62377009|Orphanet:563 owl:Class MONDO:0016338 biolink:NamedThing non-familial dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:217629|UMLS:CN226906 owl:Class MONDO:0042495 biolink:NamedThing arteriosclerotic retinopathy A arteriosclerosis disorder that involves the retina. tmpte7i6ely_mondo_relaxed.owl retina arteriosclerosis disorder|retinal arteriosclerosis|retinopathy, arteriosclerotic|arteriosclerosis, retina|arteriosclerotic retinopathy|arteriosclerosis disorder of retina ICD9:440.8|UMLS:C0339478|GARD:0000113|SCTID:95691008 owl:Class MONDO:0000022 biolink:NamedThing nocturnal enuresis Urination during sleep. tmpte7i6ely_mondo_relaxed.owl bedwetting|sleep enuresis|enuresis, nocturnal MESH:D053206|NCIT:C118172 See genetic heterogeneity of OMIM 600631. owl:Class UBERON:0006948 biolink:NamedThing efferent duct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016162 biolink:NamedThing bilateral frontal polymicrogyria Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl Orphanet:208444|OMIM:610031|ICD10:Q04.3|GARD:0010783 https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria owl:Class MONDO:0018051 biolink:NamedThing Jessner lymphocytic infiltration of the skin Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. tmpte7i6ely_mondo_relaxed.owl lymphocytic infiltrate of Jessner|benign lymphocytic infiltration|Jessner disease|Jessner-Kanof lymphocytic infiltration of the skin|benign chronic T-cell infiltrative disorder|Jessner-Kanof syndrome Orphanet:33314|GARD:0006940|UMLS:C0580181|ICD10:L98.6 https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner owl:Class NCBITaxon:4827 biolink:NamedThing Mucorales tmpte7i6ely_mondo_relaxed.owl pin molds PMID:12684019|PMID:17051209|PMID:17486964|PMID:14715234|PMID:17572334|GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr9q22.3 biolink:NamedThing 9q22.3 (Human) tmpte7i6ely_mondo_relaxed.owl 99800000 91200000 hg38 owl:Class MONDO:0013495 biolink:NamedThing autosomal recessive congenital ichthyosis 8 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene. tmpte7i6ely_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive type 8|late-onset lamellar ichthyosis|lamellar ichthyosis, late-onset|ichthyosis, congenital, autosomal recessive 8|ichthyosis, lamellar, 4|ARCI8|ichthyosis, lamellar, 4, formerly|autosomal recessive congenital ichthyosis type 8|lamellar ichthyosis 4 DOID:0060717|OMIM:613943|ICD10:Q80.2|Orphanet:313 owl:Class MONDO:0035122 biolink:NamedThing GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder tmpte7i6ely_mondo_relaxed.owl Orphanet:589547 owl:Class UBERON:0010911 biolink:NamedThing ossicle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26738 biolink:NamedThing sphingenine A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration. tmpte7i6ely_mondo_relaxed.owl sphingenines owl:Class NCIT:C101267 biolink:NamedThing Estrogen Receptor and/or Progesterone Receptor Positive tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C94299 biolink:NamedThing Receptor Status tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006067 biolink:NamedThing acinar prostate mucinous adenocarcinoma A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin. tmpte7i6ely_mondo_relaxed.owl colloid adenocarcinoma of prostate|colloidal adenocarcinoma of the prostate|mucinous adenocarcinoma of the prostate|colloidal prostate adenocarcinoma|acinar colloid prostate adenocarcinoma|colloid adenocarcinoma of the prostate|prostate colloid adenocarcinoma|mucinous adenocarcinoma of prostate|colloidal adenocarcinoma of prostate UMLS:C1335513|EFO:1000065|DOID:3703|NCIT:C5537 owl:Class HGNC:6486 biolink:NamedThing LAMB1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022898 biolink:NamedThing regulation of transmembrane transporter activity Any process that modulates the frequency, rate or extent of transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005669 biolink:NamedThing peritoneal cavity mesothelium tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03460225 biolink:NamedThing food component addition process tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0225 LanguaL curation note: A food product is characterized by its main ingredient (food source and part); the addition of secondary ingredients is considered a treatment applied to the product. Secondary ingredients are indexed according to rules that are based on the order of predominance by weight (not counting water) as seen from the label statement, formulation or recipe and/or from the amount of the ingredient as percentage of total product weight. The general rule is: an ingredient is always indexed if it is the second ingredient in order of predominance, if it is used as a filling, or if it is part of the product name(e.g., raisin bread). Specific rules are given in the scope note for the individual ingredient added; these rules specify more exhaustive indexing. For example, *MUSHROOM ADDED* is indexed regardless of ingredient position. another specific rule is given in the scope note for *SALTED*: Use if the level of salt is more than 4%. Such a rule is used only when the percentage level can be inferred from the list of ingredients. Damion Dooley owl:Class FOODON:03460111 biolink:NamedThing food treatment process Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0111 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. owl:Class CHEBI:33719 biolink:NamedThing alpha-amino-acid cation tmpte7i6ely_mondo_relaxed.owl alpha-amino-acid cation|alpha-amino-acid cations|alpha-amino acid cations owl:Class CHEBI:33703 biolink:NamedThing amino-acid cation tmpte7i6ely_mondo_relaxed.owl amino acid cation|amino-acid cation|amino-acid cations owl:Class MONDO:0013777 biolink:NamedThing pseudohypoaldosteronism type 2B Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. tmpte7i6ely_mondo_relaxed.owl PHA2B|pseudohypoaldosteronism, type 2B|WNK4 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIB|pseudohypoaldosteronism type 2 caused by mutation in WNK4 Orphanet:757|OMIM:614491|ICD10:I15.1|UMLS:C1840390|Orphanet:88939|MESH:C564161 owl:Class MONDO:0000507 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. tmpte7i6ely_mondo_relaxed.owl pagetoid neuroskeletal syndrome|IBMPFD|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|inclusion body myopathy/Paget disease/frontotemporal dementia|pagetoid amyotrophic lateral sclerosis|limb-girdle muscular dystrophy with Paget disease of bone Orphanet:52430|OMIM:167320|UMLS:C1833662|SCTID:703544004|OMIM:615424|OMIM:615422|GARD:0010899|DOID:0050881|OMIMPS:167320|ICD10:G71.8 owl:Class GO:0042127 biolink:NamedThing regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation. tmpte7i6ely_mondo_relaxed.owl regulation of cell proliferation owl:Class GO:1903729 biolink:NamedThing regulation of plasma membrane organization Any process that modulates the frequency, rate or extent of plasma membrane organization. tmpte7i6ely_mondo_relaxed.owl regulation of plasma membrane organization and biogenesis|regulation of plasma membrane organisation owl:Class MONDO:0043185 biolink:NamedThing pointer syndrome tmpte7i6ely_mondo_relaxed.owl skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties MESH:C536323|UMLS:C0796118|GARD:0004395 owl:Class MONDO:0018079 biolink:NamedThing thymic epithelial neoplasm An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. tmpte7i6ely_mondo_relaxed.owl thymus epithelial neoplasm|thymoma, adult|epithelial tumor of Thymus|Thymus epithelial neoplasm|epithelial tumor of the Thymus|TEN|thymic epithelial tumor|Thymus epithelial tumor|Tet|thymic epithelium neoplasm|epithelial neoplasm of the Thymus|epithelial neoplasm of Thymus GARD:0005201|UMLS:C1266101|ICD10:C37|Orphanet:3398|ONCOTREE:TET|NCIT:C6450|MESH:C536905|ICD10:D15.0 owl:Class MONDO:0009202 biolink:NamedThing Thakker-Donnai syndrome tmpte7i6ely_mondo_relaxed.owl dysmorphic facial features and multiple structural abnormalities|facial dysmorphism with multiple malformations|Dysmorphism-multiple structural anomalies syndrome|Dysmorphism multiple structural anomalies ICD10:Q87.8|GARD:0005158|UMLS:C2931219|OMIM:227255|Orphanet:1780 https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome owl:Class MONDO:0024286 biolink:NamedThing benign blood vessel neoplasm A benign neoplasm arising from arteries or veins. tmpte7i6ely_mondo_relaxed.owl benign blood vessel neoplasm|benign blood vessel tumor NCIT:C8537|UMLS:C0685121 owl:Class MONDO:0015571 biolink:NamedThing deletion 5q35 Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. tmpte7i6ely_mondo_relaxed.owl Del (5)(q35)|telomeric deletion 5q|distal 5q deletion|Del (5)(qter)|deletion type 5q35|monosomy 5q35 SCTID:721158009|Orphanet:1627|MESH:C537647|ICD10:Q93.5 owl:Class GO:2000765 biolink:NamedThing regulation of cytoplasmic translation Any process that modulates the frequency, rate or extent of cytoplasmic translation. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38164 biolink:NamedThing organic heteropentacyclic compound tmpte7i6ely_mondo_relaxed.owl organic heteropentacyclic compounds owl:Class GO:0044272 biolink:NamedThing sulfur compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpte7i6ely_mondo_relaxed.owl sulfur compound anabolism|sulfur biosynthetic process|sulfur compound synthesis|sulfur compound formation|sulfur biosynthesis|sulfur compound biosynthesis owl:Class MONDO:0033717 biolink:NamedThing congenital cerebellar ataxia due to RNU12 mutation A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. tmpte7i6ely_mondo_relaxed.owl Orphanet:512260 owl:Class HGNC:11786 biolink:NamedThing THBS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015546 biolink:NamedThing non-distal monosomy 10q Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. tmpte7i6ely_mondo_relaxed.owl non-distal monosomy type 10q|non-telomeric monosomy 10q|non-distal deletion 10q Orphanet:1581|ICD10:Q93.5 owl:Class MONDO:0006874 biolink:NamedThing obstructive jaundice A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. tmpte7i6ely_mondo_relaxed.owl cholestatic jaundice syndrome|cholestatic jaundice|obstructive hyperbilirubinemia NCIT:C34742|MedDRA:10029982|MESH:D041781|SCTID:44018007|DOID:13603|EFO:1001068|UMLS:C0022354 owl:Class HP:0033479 biolink:NamedThing Abnormal circulating bilirubin concentration tmpte7i6ely_mondo_relaxed.owl 2021-01-09 23:02:44+00:00 peter human_phenotype owl:Class MONDO:0014044 biolink:NamedThing dysmorphism-conductive hearing loss-heart defect syndrome A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears. tmpte7i6ely_mondo_relaxed.owl TYSHCHENKO syndrome ICD10:Q87.8|Orphanet:289553|SCTID:763279007|OMIM:615102|UMLS:C3554774 owl:Class MONDO:0021745 biolink:NamedThing psychosocial short stature A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. tmpte7i6ely_mondo_relaxed.owl child abuse dwarfism|Kaspar Hauser syndrome|psychosocial dwarfism|abuse dwarfism syndrome GARD:0009440|MESH:C535569|UMLS:C1455735|SCTID:39465007 https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature owl:Class MONDO:0007243 biolink:NamedThing Burkitt lymphoma Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl malignant lymphoma, Burkitt's type|small non-cleaved cell lymphoma, Burkitt's type|Burkitt's tumor or lymphoma|small non-cleaved cell lymphoma|Burkitt's lymphoma|BL|Burkitt's tumor|Burkitt lymphoma/leukaemia|Burkitt lymphoma ICD10:C83.7|ICD10:C83.70|EFO:0000309|MESH:D002051|UMLS:C0006413|OMIM:113970|DOID:8584|Orphanet:543|MedDRA:10053518|SCTID:118617000|ICDO:9687/3|ICD9:200.2|NCIT:C2912|GARD:0005973|MESH:D008228|MedDRA:10067184|ONCOTREE:BL|MedDRA:10006595 owl:Class MONDO:0005995 biolink:NamedThing trichostrongylosis Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. tmpte7i6ely_mondo_relaxed.owl Trichostrongylus disease or disorder|Trichostrongylus caused disease or disorder|infection by Trichostrongylus|infection by Trichostrongylus species|Trichostrongylus infectious disease|Trichostrongyliasis EFO:0007523|DOID:1254|SCTID:33710003|UMLS:C0040948|MESH:D014253|ICD10:B81.2|ICD9:127.6 owl:Class MONDO:0006847 biolink:NamedThing malignant lymphatic vessel tumor Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl EFO:1001032 Editor note: do not axiomatize as cancer of lymphatic vessel owl:Class PATO:0015021 biolink:NamedThing combustibility The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002971 biolink:NamedThing amelanotic melanoma A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. tmpte7i6ely_mondo_relaxed.owl amelanotic melanoma (morphologic abnormality)|melanoma, amelanotic, malignant|amelanotic melanomas|amelanotic melanoma|melanomas, amelanotic EFO:1001937|UMLS:C0206735|ICDO:8730/3|DOID:4359|NCIT:C3802|MESH:D018328 owl:Class MONDO:0009573 biolink:NamedThing megaepiphyseal dwarfism tmpte7i6ely_mondo_relaxed.owl megaepiphyseal dwarfism GARD:0003444|OMIM:249230 https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism owl:Class MONDO:0015479 biolink:NamedThing submucosal cleft palate tmpte7i6ely_mondo_relaxed.owl Orphanet:155878|ICD10:Q35.9 owl:Class HGNC:4888 biolink:NamedThing CFHR1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060124 biolink:NamedThing positive regulation of growth hormone secretion Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013354 biolink:NamedThing spastic ataxia 4 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic ataxia caused by mutation in MTPAP|autosomal recessive spastic ataxia - optic atrophy - dysarthria|autosomal recessive spastic ataxia 4|autosomal recessive spastic ataxia type 4|autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome|spastic ataxia type 4|spastic ataxia 4, autosomal recessive|SPAX4|MTPAP autosomal recessive spastic ataxia ICD10:G11.4|DOID:0050943|Orphanet:254343|UMLS:C3150925|UMLS:CN230090|GARD:0010992|OMIM:613672 owl:Class MONDO:0022765 biolink:NamedThing chronic demyelinizing neuropathy with IgM monoclonal tmpte7i6ely_mondo_relaxed.owl GARD:0001352 https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal owl:Class CL:1000042 biolink:NamedThing forebrain neuroblast tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000055 biolink:NamedThing desublimation of water vapour into ice A desublimation process during which water vapour is frozen into water ice. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019893 biolink:NamedThing distal monosomy 19p13.3 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). tmpte7i6ely_mondo_relaxed.owl distal deletion 19p|telomeric deletion 19p Orphanet:96129|ICD10:Q93.5 owl:Class UBERON:0000174 biolink:NamedThing excreta A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity tmpte7i6ely_mondo_relaxed.owl waste substance|portion of excreted substance|excreted substance|excretion owl:Class MONDO:0005210 biolink:NamedThing uterine corpus sarcoma A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. tmpte7i6ely_mondo_relaxed.owl sarcoma of the uterus|uterine body sarcoma|sarcoma of uterus|sarcoma of the uterine corpus|sarcoma of corpus uteri|uterus sarcoma|sarcoma of the body of uterus|corpus uteri sarcoma|uterine sarcoma/mesenchymal|sarcoma of the corpus uteri|sarcoma of uterine body|uterine sarcoma|body of uterus sarcoma|sarcoma of body of uterus|sarcoma of uterine corpus|sarcoma of the uterine body SCTID:254877001|ICD10:C54.2|ONCOTREE:USARC|NCIT:C6339|UMLS:C0338113|Orphanet:213620|MedDRA:10039497|EFO:0002914|GARD:0009383|DOID:5165 MONDO:0021422 https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma owl:Class MONDO:0001582 biolink:NamedThing cicatricial ectropion tmpte7i6ely_mondo_relaxed.owl ICD9:374.14|DOID:12782|UMLS:C0155196|SCTID:28914006 owl:Class MONDO:0002043 biolink:NamedThing ectropion The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl ectropion (disease)|ectropion|everted margin|ectropion of eyelid ectropion (disease) ICD9:374.1|DOID:1570|ICD10:H02.109|ICD10:H02.1|ICD9:374.10|UMLS:C0013592|ICD10:H02.10|HP:0000656|MESH:D004483|SCTID:62909004 owl:Class MONDO:0013684 biolink:NamedThing vesicoureteral reflux 6 tmpte7i6ely_mondo_relaxed.owl VUR6|vesicoureteral reflux 6 OMIM:614319|UMLS:C3280441|Orphanet:289365 owl:Class MONDO:0001566 biolink:NamedThing hypercalcemia disease Abnormally high concentration of calcium in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl hypercalcemia DOID:12678|ICD9:275.42|ICD10:E83.52|UMLS:C0020437|MESH:D006934|HP:0003072|NCIT:C3112|SCTID:66931009 owl:Class MONDO:0016471 biolink:NamedThing pachyonychia congenita Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. tmpte7i6ely_mondo_relaxed.owl PC|congenital pachyonychia|Jadassohn-Lewandowsky syndrome|pachyonychia congenita, Jadassohn-Lewandowsky type|pachyonychia congenita type 1|pachyonychia congenita syndrome|Jackson-Lawler type pachyonychia congenita OMIM:167200|OMIM:167210|OMIM:615726|Orphanet:2309|NCIT:C84986|GARD:0010753|OMIM:260130|ICD10:Q84.5|OMIMPS:167200|OMIM:615728|UMLS:C0265334|DOID:0050449|MESH:D053549|SCTID:39427000 https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita owl:Class MONDO:0006823 biolink:NamedThing Klinefelter syndrome A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. tmpte7i6ely_mondo_relaxed.owl XXY syndrome (Klinefelter syndrome)|Klinefelter syndrome|Klinefelter's syndrome|hypogonadotropic hypogonadism|47,XXY syndrome|XXY trisomy|Klinefelter's syndrome, XXY|XXY syndrome MESH:D007713|NCIT:C34752|ICD10:Q98.4|SCTID:405769009|UMLS:C0022735|EFO:1001006|MedDRA:10023463|ICD10:Q98.0|ICD9:758.7|DOID:1921 owl:Class MONDO:0010562 biolink:NamedThing colonic atresia Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. tmpte7i6ely_mondo_relaxed.owl congenital atresia of colon|colonic atresia|colon atresia|colonic atresia (disease)|atresia of colon colonic atresia (disease) OMIM:303650|ICD10:Q42.9|GARD:0001446|Orphanet:1198|HP:0010448|SCTID:37054000|NCIT:C101024|MESH:C562562 owl:Class MONDO:0010167 biolink:NamedThing urocanic aciduria Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. tmpte7i6ely_mondo_relaxed.owl encephalopathy due to urocanase deficiency|urocanic aciduria (disease)|urocanase deficiency|UROCD|urocanic aciduria urocanic aciduria (disease) GARD:0008539|SCTID:60952007|Orphanet:210128|UMLS:C0268514|OMIM:276880|ICD10:E70.8|HP:0012237|MESH:C536479 owl:Class HP:0001397 biolink:NamedThing Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes. tmpte7i6ely_mondo_relaxed.owl Steatosis|Fatty infiltration of liver|Liver steatosis|Fatty liver UMLS:C2711227|SNOMEDCT_US:442191002|SNOMEDCT_US:197321007|MSH:D005234 Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. HP:0002252|HP:0200121 human_phenotype owl:Class HP:0006561 biolink:NamedThing Lipid accumulation in hepatocytes tmpte7i6ely_mondo_relaxed.owl UMLS:C1837257 human_phenotype owl:Class MONDO:0013760 biolink:NamedThing congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome tmpte7i6ely_mondo_relaxed.owl ISQMR|ichthyosis, spastic quadriplegia, and mental retardation|ichthyosis, spastic quadriplegia, and intellectual disability|congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome OMIM:614457|Orphanet:352333|ICD10:Q80.8|UMLS:C3280856 owl:Class MONDO:0005510 biolink:NamedThing hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. tmpte7i6ely_mondo_relaxed.owl ICD10:N13.30|DOID:11111|SCTID:43064006|MESH:D006869|ICD9:591|NCIT:C26796|UMLS:C0020295|EFO:0005562 owl:Class MONDO:0004332 biolink:NamedThing lung hilum cancer A malignant neoplasm involving the lung hilus. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the lung hilum|malignant neoplasm of the lung hilum|malignant lung hilus neoplasm|malignant neoplasm of lung hilus|lung hilus cancer|primary malignant neoplasm of hilus of lung|malignant neoplasm of lung hilum|cancer of lung hilus|malignant hilar lung tumor|malignant tumor of lung hilum|malignant lung hilum neoplasm|malignant lung hilum tumor|malignant hilar lung neoplasm SCTID:93827000|DOID:7696|UMLS:C2607931|UMLS:C0346601|NCIT:C4566 owl:Class UBERON:0005144 biolink:NamedThing metanephric glomerular capillary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0029134 biolink:NamedThing severe combined immunodeficiency due to CARMIL2 deficiency tmpte7i6ely_mondo_relaxed.owl IMD58|immunodeficiency 58 OMIM:618131|Orphanet:542301 owl:Class MONDO:0008149 biolink:NamedThing osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures An osteogenesis imperfecta found in a single South African family. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures UMLS:C1833748|DOID:0110335|ICD10:Q78.0|OMIM:166230|MESH:C563487|Orphanet:216796 owl:Class MONDO:0008146 biolink:NamedThing osteogenesis imperfecta type 1 Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta type I|OI, type 1|osteogenesis imperfecta tarda|osteogenesis imperfecta type 1|Adair-Dighton syndrome|OI1|osteogenesis imperfecta with blue sclerae|Van der Hoeve syndrome|osteogenesis imperfecta, type I|mild osteogenesis imperfecta|classic non-deforming OI with blue sclerae|OI type 1|osteogenesis imperfecta, type 1|non-deforming osteogenesis imperfecta ICD10:Q78.0|DOID:0110334|OMIM:166230|Orphanet:216796|OMIM:166200|UMLS:CN536249|SCTID:385482004|UMLS:CN201103|GARD:0008694|NCIT:C99003 Editor note: we follow ordo and place van der hoeve as exact synonym owl:Class HGNC:10549 biolink:NamedThing ATXN10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011287 biolink:NamedThing craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). tmpte7i6ely_mondo_relaxed.owl craniosynostosis, anal anomalies, and porokeratosis|Cap syndrome|CDAGS syndrome|craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations|CAP syndrome ICD10:Q87.8|Orphanet:85199|SCTID:720812002|GARD:0009506|MESH:C536789|OMIM:603116 owl:Class HP:0002121 biolink:NamedThing Generalized non-motor (absence) seizure A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. tmpte7i6ely_mondo_relaxed.owl Generalised non-motor (absence) seizure|Brief seizures with staring spells|Absence seizures|Generalised non-motor seizure|Petit mal seizure|Absence seizure|Petit mal seizures|Petit mal UMLS:C0014553|SNOMEDCT_US:79631006|MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:50866000|SNOMEDCT_US:432241000124101 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. HP:0007143|HP:0011148 human_phenotype owl:Class HP:0011146 biolink:NamedThing Dialeptic seizure A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. tmpte7i6ely_mondo_relaxed.owl Unknown onset behavioral arrest seizure with impairment of awareness|Behavioural arrest seizure with impairment of awareness irrespective of onset|Behavioral arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioural arrest seizure with impairment of awareness The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. 2011-10-18T01:47:30Z human_phenotype owl:Class GO:0006082 biolink:NamedThing organic acid metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl organic acid metabolism owl:Class MONDO:0011099 biolink:NamedThing human HOXA1 syndromes Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Bosley Salih Alorainy syndrome|Bosley-Salih-Alorainy syndrome|ABDS|Athabaskan brainstem dysgenesis syndrome|Human HOXA1 syndromes|ABSD|Athabaskan brainstem dysgenesis|Athabascan brainstem dysgenesis syndrome|Navajo brainstem syndrome|BSAS OMIM:601536|Orphanet:69737|UMLS:C1832215|Orphanet:69739|DOID:0050682|GARD:0008333|SCTID:720518006 https://github.com/monarch-initiative/mondo/issues/1377 owl:Class MONDO:0017903 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpte7i6ely_mondo_relaxed.owl autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant MSMD due to partial IFNgammaR2 deficiency|IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319589|UMLS:CN203963|ICD10:D84.8 owl:Class MONDO:0020767 biolink:NamedThing cauda equina syndrome with neurogenic bladder A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted. tmpte7i6ely_mondo_relaxed.owl cauda equina syndrome with neurogenic bladder|Cauda equina syndrome with neurogenic bladder|Cauda Equina Syndrome with Neurogenic Bladder ICD9:344.61|SCTID:12454008|NCIT:C34453|UMLS:C0007459 owl:Class MONDO:0023238 biolink:NamedThing giant mammary hamartoma tmpte7i6ely_mondo_relaxed.owl giant hamartoma of the breast UMLS:C2931343|GARD:0000208|MESH:C536818 https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma owl:Class MONDO:0003469 biolink:NamedThing epithelioid cell synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures. tmpte7i6ely_mondo_relaxed.owl epithelial sarcoma of the synovium|epithelial synovial sarcoma|synovial sarcoma, epithelioid cell|epithelioid cell sarcoma of synovium|synovial sarcoma, epithelioid cell (morphologic abnormality)|epithelioid synovial sarcoma|epithelial sarcoma of synovium|epithelioid cell sarcoma of the synovium ICDO:9042/3|UMLS:C0334506|DOID:5494|NCIT:C4278 owl:Class MONDO:0005067 biolink:NamedThing monophasic synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. tmpte7i6ely_mondo_relaxed.owl monophasic sarcoma of synovium|monophasic sarcoma of the synovium|monophasic synovial sarcoma EFO:0000595|NCIT:C6534|DOID:5495|UMLS:C1334801 owl:Class MONDO:0011054 biolink:NamedThing autosomal recessive amelia Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. tmpte7i6ely_mondo_relaxed.owl amelia, autosomal recessive UMLS:C1832432|Orphanet:1027|OMIM:601360|MESH:C563338|ICD10:Q73.0|SCTID:726735000 owl:Class MONDO:0009381 biolink:NamedThing hyperbilirubinemia, conjugated, type 3 tmpte7i6ely_mondo_relaxed.owl hyperbilirubinemia, conjugated, type III OMIM:237550|SCTID:235906009|MESH:C562885|UMLS:C0400964 owl:Class CL:0002102 biolink:NamedThing CD38-negative naive B cell A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. tmpte7i6ely_mondo_relaxed.owl CD38-negative naive B-lymphocyte|CD38- naive B-cell|CD38- naive B lymphocyte|CD38-negative naive B-cell|CD38- naive B cell|CD38-negative naive B lymphocyte|CD38- naive B-lymphocyte cell owl:Class GO:0002713 biolink:NamedThing negative regulation of B cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl inhibition of B cell mediated immunity|negative regulation of B-cell mediated immunity|negative regulation of B-lymphocyte mediated immunity|downregulation of B cell mediated immunity|down-regulation of B cell mediated immunity|down regulation of B cell mediated immunity|negative regulation of B lymphocyte mediated immunity owl:Class CHEBI:25340 biolink:NamedThing methylpyridines Any member of the class of pyridines that carries at least one methyl substituent. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011200 biolink:NamedThing torsion dystonia 7 A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p. tmpte7i6ely_mondo_relaxed.owl DYT7|dystonia 7, torsion|torsion dystonia type 7|torsion dystonia, focal adult-onset|cervical dystonia, primary MESH:C566572|Orphanet:93963|DOID:0090040|OMIM:602124 owl:Class HGNC:18831 biolink:NamedThing CTHRC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019198 biolink:NamedThing sympathetic ophthalmia Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. tmpte7i6ely_mondo_relaxed.owl sympathetic uveitis|sympathetic ophthalmia MESH:D009879|ICD10:H44.1|EFO:1001205|ICD10:H44.13|ICD9:360.11|MedDRA:10042742|Orphanet:79098|DOID:12029|UMLS:C0029077|SCTID:75315001 owl:Class MONDO:0001687 biolink:NamedThing diabetic cataract tmpte7i6ely_mondo_relaxed.owl cataract - diabetic SCTID:43959009|DOID:13328|ICD10:H28.0|ICD9:366.41|UMLS:C0011876 owl:Class HP:0000366 biolink:NamedThing Abnormality of the nose An abnormality of the nose. tmpte7i6ely_mondo_relaxed.owl Anomaly of the nose|Nasal anomaly|Nasal abnormality|Abnormality of the nose|Deformity of the nose|Malformation of the nose|Nasal malformation|Nasal deformity UMLS:C0240547|UMLS:C0265736|UMLS:C2235909|SNOMEDCT_US:72089000|SNOMEDCT_US:128274005 human_phenotype owl:Class MONDO:0006460 biolink:NamedThing thyroglossal duct cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. tmpte7i6ely_mondo_relaxed.owl thyroglossal tract cyst EFO:1000585|NCIT:C85189|Orphanet:489|MESH:D013955|SCTID:39462005|ICD9:759.2 owl:Class CHEBI:84143 biolink:NamedThing D-phenylalanine derivative A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom. tmpte7i6ely_mondo_relaxed.owl D-phenylalanine derivatives owl:Class UBERON:0001972 biolink:NamedThing submucosa of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001866 biolink:NamedThing sebum tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23734 biolink:NamedThing PTF1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017216 biolink:NamedThing calciphylaxis cutis Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. tmpte7i6ely_mondo_relaxed.owl Orphanet:280065|ICD10:E83.5|SCTID:717043006|UMLS:C4274083 owl:Class HGNC:11926 biolink:NamedThing TNFSF11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010157 biolink:NamedThing Tryptophanuria with dwarfism tmpte7i6ely_mondo_relaxed.owl Tryptophanuria with dwarfism UMLS:C0268473|SCTID:12045002|ICD9:259.4|MESH:C562658|OMIM:276100|GARD:0004268 https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism owl:Class MONDO:0004969 biolink:NamedThing acute quadriplegic myopathy Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM. tmpte7i6ely_mondo_relaxed.owl EFO:0000225 owl:Class MONDO:0002012 biolink:NamedThing methylmalonic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. tmpte7i6ely_mondo_relaxed.owl methylmalonic acidemia, cblA type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic aciduria type cblB|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B|methylmalonic aciduria cblB type|methylmalonic aciduria mut type|methylmalonic acidemia, cblB type|methylmalonic aciduria|methylmalonic aciduria type cblA|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, mut type GARD:0007033|SCTID:42393006|ICD9:270.7|DOID:14749|UMLS:C1855119|NCIT:C98986|ICD10:E71.120|UMLS:C0268583 owl:Class MONDO:0013604 biolink:NamedThing myopia 21, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene. tmpte7i6ely_mondo_relaxed.owl MYP21|myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant|ZNF644 myopia (disease) OMIM:614167|UMLS:C3279997 owl:Class MONDO:0003564 biolink:NamedThing localized pulmonary fibrosis Replacement of the lung tissue by connective tissue in a specific area of the lung. tmpte7i6ely_mondo_relaxed.owl NCIT:C27103|DOID:5642|UMLS:C0340127|SCTID:233726000 owl:Class MONDO:0002771 biolink:NamedThing pulmonary fibrosis Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). tmpte7i6ely_mondo_relaxed.owl fibrosis of lung|pulmonary interstitial fibrosis MESH:D011658|SCTID:51615001|DOID:3770|NCIT:C26869|UMLS:C0034069 owl:Class MONDO:0008466 biolink:NamedThing Karsch-Neugebauer syndrome Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. tmpte7i6ely_mondo_relaxed.owl split hand nystagmus syndrome|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts|split hand split foot nystagmus|split hand/split foot-nystagmus syndrome|Karsch-Neugebauer syndrome|KNS|Nystagmus-split hand syndrome ICD10:Q87.2|Orphanet:2329|UMLS:C1866740|GARD:0004967|OMIM:183800|MESH:C537319|SCTID:722032005 owl:Class MONDO:0011955 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 4 tmpte7i6ely_mondo_relaxed.owl noninsulin-dependent diabetes mellitus 4|diabetes mellitus, noninsulin-dependent, type 4|diabetes mellitus, noninsulin-dependent, 4|Niddm4 OMIM:608036|UMLS:C1842642|MESH:C564299 owl:Class MONDO:0004531 biolink:NamedThing sclerosing adenosis of breast Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. tmpte7i6ely_mondo_relaxed.owl breast sclerosing adenosis|sclerosing adenosis|sclerosing breast adenosis|sclerosing adenosis of the breast UMLS:C1335931|SCTID:105261000119101|DOID:8310|NCIT:C5205 owl:Class MONDO:0008357 biolink:NamedThing radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema|Schmitt-Gillenwater-Kelly syndrome|radial hypoplasia, triphalangeal thumbs and hypospadias SCTID:716092007|OMIM:179250|MESH:C536262|GARD:0004626|ICD10:Q87.2|Orphanet:2252 owl:Class MONDO:0019013 biolink:NamedThing non-histaminic angioedema Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. tmpte7i6ely_mondo_relaxed.owl angioneurotic edema|non histamine-induced angioedema|bradykinine-induced angioedema UMLS:CN227560|Orphanet:658|SCTID:41291007|ICD9:995.1 owl:Class MONDO:0018107 biolink:NamedThing idiopathic recurrent and disabling cutaneous herpes tmpte7i6ely_mondo_relaxed.owl UMLS:CN204468|ICD10:B00.1|Orphanet:35061 owl:Class ENVO:01001690 biolink:NamedThing mass of liquid An object which is composed primarily of a liquid. tmpte7i6ely_mondo_relaxed.owl liquid mass owl:Class MONDO:0008514 biolink:NamedThing syndactyly type 3 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. tmpte7i6ely_mondo_relaxed.owl GJA1 non-syndromic syndactyly|syndactyly of the ring and little finger|Ring and Little finger syndactyly|syndactyly of fingers four and five|SD3|syndactyly, type 3|syndactyly of fingers 4 and 5|non-syndromic syndactyly caused by mutation in GJA1|Sdty3|syndactyly, type III UMLS:C1861366|SCTID:715725001|MESH:C538154|Orphanet:93404|ICD10:Q70.1|GARD:0005088|OMIM:186100 https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 owl:Class MONDO:0011086 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. tmpte7i6ely_mondo_relaxed.owl SCID due to complete RAG1-2 deficiency|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID due to complete RAG1/2 deficiency|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1-2 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive ICD10:D81.1|OMIM:601457|GARD:0010339|UMLS:C1832322|MESH:C563311|DOID:0090013|Orphanet:331206 owl:Class MONDO:0013467 biolink:NamedThing immunodeficiency due to ficolin3 deficiency tmpte7i6ely_mondo_relaxed.owl lectin complement activation pathway, defect in, 3|Fcn3 deficiency|immunodeficiency due to ficolin 3 deficiency|ficolin 3 deficiency Orphanet:331190|ICD10:D84.1|SCTID:766705006|UMLS:C3151226|OMIM:613860 owl:Class MONDO:0044209 biolink:NamedThing disorder of lectin complement activation pathway A disease that has its basis in the disruption of complement activation, lectin pathway. tmpte7i6ely_mondo_relaxed.owl complement activation, lectin pathway disease|disorder of complement activation, lectin pathway OMIMPS:614372 owl:Class MONDO:0019192 biolink:NamedThing AKT2-related familial partial lipodystrophy tmpte7i6ely_mondo_relaxed.owl familial partial lipodystrophy due to AKT2 mutations|AKT2-related FPLD UMLS:CN205772|ICD10:E88.1|UMLS:CN536246|Orphanet:79085|GARD:0012599 owl:Class MONDO:0013036 biolink:NamedThing Zechi-Ceide syndrome tmpte7i6ely_mondo_relaxed.owl occipital atretic cephalocele, unusual facies, and large feet|occipital atretic cephalocele-unusual facies-large feet syndrome|Zechi Ceide syndrome|Zechi-Ceide syndrome|occipital atretic cephalocele, unusual facies and large feet GARD:0010582|Orphanet:217017|MESH:C567865|OMIM:612916|UMLS:C2752047|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome owl:Class HP:0031263 biolink:NamedThing Abnormal renal corpuscle morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. tmpte7i6ely_mondo_relaxed.owl 2017-08-12 18:30:25+00:00 peter human_phenotype owl:Class HP:0012575 biolink:NamedThing Abnormal nephron morphology A structural anomaly of the nephron. tmpte7i6ely_mondo_relaxed.owl Abnormality of the nephron UMLS:C4022838 peter 2014-01-16T12:49:04Z human_phenotype owl:Class MONDO:0016742 biolink:NamedThing mixed germ cell tumor of central nervous system A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia. tmpte7i6ely_mondo_relaxed.owl mixed germ cell tumor of the CNS|CNS mixed germ cell tumor|mixed germ cell tumor of CNS|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of the central nervous system|central nervous system mixed germ cell tumor Orphanet:252021|UMLS:C1334785|UMLS:CN201989|NCIT:C7016 owl:Class MONDO:0010943 biolink:NamedThing schizophrenia 4 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21. tmpte7i6ely_mondo_relaxed.owl SCZD4|schizophrenia susceptibility locus, chromosome 22Q11-related|schizophrenia type 4|schizophrenia 4 OMIM:600850|UMLS:C1833247|DOID:0070080 owl:Class MONDO:0020567 biolink:NamedThing apnea of prematurity Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases. tmpte7i6ely_mondo_relaxed.owl NCIT:C98823|ICD10:P28.4|SCTID:276544005|Orphanet:99981 owl:Class HGNC:4138 biolink:NamedThing GANAB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001963 biolink:NamedThing bronchial-associated lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4286 biolink:NamedThing GJB4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0020358 biolink:NamedThing accessory XI nerve nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2280 biolink:NamedThing COX6B1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35294 biolink:NamedThing carbopolycyclic compound A polyclic compound in which all of the ring members are carbon atoms. tmpte7i6ely_mondo_relaxed.owl carbopolycyclic compounds owl:Class MONDO:0009999 biolink:NamedThing autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. tmpte7i6ely_mondo_relaxed.owl Robinow syndrome, autosomal recessive|costovertebral segmentation defect-mesomelia syndrome|COVESDEM syndrome|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|Covesdem syndrome, formerly|RRS|Covesdem syndrome|costovertebral segmentation defect with mesomelia, formerly|costovertebral segmentation defect with mesomelia UMLS:C1849334|DOID:0060764|OMIM:268310|Orphanet:97360|MESH:C535863|Orphanet:1507|ICD10:Q87.1 owl:Class MONDO:0018904 biolink:NamedThing primary membranoproliferative glomerulonephritis A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded. tmpte7i6ely_mondo_relaxed.owl Mesangiocapillary glomerulonephritis|MPGN|membranoproliferative glomerulonephritis ICD10:N00.5|Orphanet:54370|OMIM:615008|GARD:0011982|ICD9:583.2|OMIM:305800|MedDRA:10018370|OMIM:614809|OMIM:609814 owl:Class GO:0042762 biolink:NamedThing regulation of sulfur metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. tmpte7i6ely_mondo_relaxed.owl regulation of sulfur metabolism|regulation of sulphur metabolic process|regulation of sulphur metabolism owl:Class MONDO:0010392 biolink:NamedThing glycogen storage disease due to phosphoglycerate kinase 1 deficiency Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. tmpte7i6ely_mondo_relaxed.owl PGK1 glycogen storage disease|Phosphoglycerate kinase deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|glycogen storage disease due to phosphoglycerate kinase 1 deficiency|PGK deficiency|Pgk1 deficiency|GSD due to phosphoglycerate kinase 1 deficiency|glycogen storage disease caused by mutation in PGK1|PHOSPHOGLYCERATE KINASE 1 deficiency MESH:C567067|OMIM:300653|NCIT:C126738|ICD10:E74.0|Orphanet:713|GARD:0007389|UMLS:C1970848 owl:Class MONDO:0014788 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2W Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. tmpte7i6ely_mondo_relaxed.owl LIMS2 autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|LGMD2W|muscular dystrophy, limb-girdle, type 2w|muscular dystrophy, limb-girdle, type 2W Orphanet:466801|UMLS:C4225192|DOID:0110288|OMIM:616827 owl:Class MONDO:0020771 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy tmpte7i6ely_mondo_relaxed.owl SCAN OMIMPS:607250 owl:Class GO:0008066 biolink:NamedThing glutamate receptor activity Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014013 biolink:NamedThing maternal riboflavin deficiency tmpte7i6ely_mondo_relaxed.owl riboflavin deficiency|maternal riboflavin deficiency|RBFVD Orphanet:411712|ICD10:P00.4|OMIM:615026 owl:Class CHEBI:41609 biolink:NamedThing carbonate tmpte7i6ely_mondo_relaxed.owl CO3(2-)|trioxidocarbonate(2-)|CARBONATE ION|Karbonat|[CO3](2-)|carbonate owl:Class CHEBI:35604 biolink:NamedThing carbon oxoanion A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. tmpte7i6ely_mondo_relaxed.owl oxocarbon anions|carbon oxoanions|oxocarbon anion|carbon oxoanion owl:Class MONDO:0007379 biolink:NamedThing Meesmann corneal dystrophy Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, Meesmann epithelial|Meesmann corneal epithelial dystrophy|corneal dystrophy, juvenile epithelial, of Meesmann|juvenile hereditary epithelial dystrophy|stocker-Holt dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|corneal dystrophy, Meesmann|juvenile epithelial of Meesmann corneal dystrophy|Meesman dystrophy|corneal dystrophy, juvenile epithelial of Meesmann|Meesmann corneal dystrophy|MECD ICD10:H18.52|DOID:0060451|Orphanet:98954|NCIT:C84795|UMLS:C0339277|ICD9:371.51|SCTID:1674008|ICD10:H18.5|GARD:0009688|OMIMPS:122100|MESH:D053559 https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy owl:Class MONDO:0006680 biolink:NamedThing blue nevus An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. tmpte7i6ely_mondo_relaxed.owl Jadassohn-TiC(che syndrome|blue neuronevus|Jadassohn-TiC(che nevus|Jadassohn-Tièche nevus|blue skin Nevus|blue nevus|blue Nevus of the skin|benign mesenchymal melanoma|Tièche-Jadassohn nevus|Jadassohn-Tièche syndrome|blue Nevus of skin NCIT:C3803|ICDO:8780/0|SCTID:254806009|MESH:D018329|MedDRA:10062788|EFO:1000841|GARD:0008452 owl:Class GO:0022853 biolink:NamedThing active ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2859 biolink:NamedThing DHCR24 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001810 biolink:NamedThing regulation of type I hypersensitivity Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007734 biolink:NamedThing holoprosencephaly 4 A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. tmpte7i6ely_mondo_relaxed.owl TGIF1 holoprosencephaly|holoprosencephaly caused by mutation in TGIF1|holoprosencephaly 4|HPE4|holoprosencephaly type 4 OMIM:142946|Orphanet:2162|NCIT:C75475|DOID:0110880|UMLS:C1840528|MESH:C564180 owl:Class HGNC:8653 biolink:NamedThing PCCA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020490 biolink:NamedThing mosaic trisomy 9 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy type 9|trisomy 9 mosaicism|Mosaic trisomy chromosome 9 ICD10:Q92.1|Orphanet:99776|UMLS:CN035918|GARD:0000043|SCTID:764989007|MESH:C535454 https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 owl:Class MONDO:0009599 biolink:NamedThing metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl metaphyseal dysostosis, conductive hearing loss and intellectual disability|metaphyseal dysostosis, intellectual disability, and conductive deafness|metaphyseal dysostosis intellectual disability conductive deafness|metaphyseal dysostosis mental retardation conductive deafness|metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis, mental retardation, and conductive deafness OMIM:250420|MESH:C565396|Orphanet:2502|GARD:0003566|UMLS:C1855175|ICD10:Q78.5 https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness owl:Class MONDO:0020375 biolink:NamedThing coralliform cataract tmpte7i6ely_mondo_relaxed.owl Orphanet:98990|UMLS:CN207246|ICD10:Q12.0|OMIM:115800 owl:Class MONDO:0014379 biolink:NamedThing ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. tmpte7i6ely_mondo_relaxed.owl Helsmoortel-VAN DER AA syndrome|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|MRD28|autosomal dominant mental retardation 28|intellectual disability, autosomal dominant 28|mental retardation, autosomal dominant 28|ADNP syndrome|HVDAS|autosomal dominant intellectual disability 28 GARD:0012931|DOID:0070058|ICD10:Q87.0|Orphanet:404448|UMLS:C4014538|OMIM:615873|SCTID:766824003 owl:Class FOODON:03400267 biolink:NamedThing seafood or seafood product (us cfr) Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0267 http://langual.org owl:Class FOODON:03400217 biolink:NamedThing meat, poultry, seafood or related product (us cfr) Products of the flesh of animals. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0217 http://langual.org owl:Class MONDO:0023726 biolink:NamedThing mediastinal yolk sac tumor An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome. tmpte7i6ely_mondo_relaxed.owl yolk Sac tumor of mediastinum|endodermal sinus tumor of mediastinum|yolk Sac tumor of the mediastinum|endodermal sinus tumor of the mediastinum|endodermal sinus neoplasm of mediastinum|endodermal sinus neoplasm of the mediastinum|yolk Sac neoplasm of the mediastinum|mediastinal yolk Sac neoplasm|mediastinal endodermal sinus tumors|mediastinal endodermal sinus tumor|mediastinal endodermal sinus neoplasm|EST|mediastinum yolk sac tumor|yolk Sac neoplasm of mediastinum|mediastinal yolk Sac tumor UMLS:C1334683|GARD:0008258|NCIT:C6443 owl:Class MONDO:0008418 biolink:NamedThing scleroderma, familial progressive tmpte7i6ely_mondo_relaxed.owl systemic sclerosis, susceptibility to|Crest syndrome|scleroderma, familial progressive UMLS:C1866983|OMIM:181750|Orphanet:90291|Orphanet:90290|UMLS:C0206138 owl:Class MONDO:0011965 biolink:NamedThing familial temporal lobe epilepsy 2 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3. tmpte7i6ely_mondo_relaxed.owl Ftle|familial temporal lobe epilepsy type 2|epilepsy, familial temporal lobe|epilepsy, familial temporal lobe, 2|ETL2|temporal epilepsy, familial|familial temporal lobe epilepsy Orphanet:98819|ICD10:G40.2|OMIM:608096|OMIM:611631|MESH:C536956|DOID:0060755|GARD:0005135 owl:Class MONDO:0009469 biolink:NamedThing benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. tmpte7i6ely_mondo_relaxed.owl mild ATP8B1 deficiency|recurrent familial intrahepatic cholestasis 1|benign recurrent intrahepatic cholestasis 1|Bric type 1|ATP8B1 benign recurrent intrahepatic cholestasis|cholestasis, benign recurrent intrahepatic 1|benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1|Summerskill syndrome|cholestasis, benign recurrent intrahepatic, 1|BRIC1|cholestasis, benign recurrent intrahepatic, type 1 Orphanet:65682|ICD10:K83.1|OMIM:243300|UMLS:C0268312|DOID:0070231|GARD:0010028|Orphanet:99960 https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 owl:Class MONDO:0018339 biolink:NamedThing PrP systemic amyloidosis Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. tmpte7i6ely_mondo_relaxed.owl prion protein systemic amyloidosis|chronic diarrhea with hereditary sensory and autonomic neuropathy|chronic diarrhea with HSAN UMLS:C4518776|Orphanet:397606|SCTID:733422008|ICD10:G60.8 owl:Class GO:0018130 biolink:NamedThing heterocycle biosynthetic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpte7i6ely_mondo_relaxed.owl heterocycle biosynthesis|heterocycle formation|heterocycle anabolism|heterocycle synthesis owl:Class MONDO:0011059 biolink:NamedThing holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. tmpte7i6ely_mondo_relaxed.owl Genoa syndrome|Semilobar holoprosencephaly and primary craniosynostosis|holoprosencephaly, SEMILOBAR, with craniosynostosis|Camero-Lituania-Cohen syndrome|camera Lituania Cohen syndrome|holoprosencephaly craniosynostosis OMIM:601370|ICD10:Q04.2|MESH:C537684|Orphanet:2163|SCTID:715434005|UMLS:C1832424|GARD:0002454 owl:Class GO:0045981 biolink:NamedThing positive regulation of nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpte7i6ely_mondo_relaxed.owl positive regulation of nucleotide metabolism|activation of nucleotide metabolic process|upregulation of nucleotide metabolic process|up regulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|stimulation of nucleotide metabolic process owl:Class MONDO:0009795 biolink:NamedThing orofaciodigital syndrome IX Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). tmpte7i6ely_mondo_relaxed.owl OFD syndrome 9|orofaciodigital syndrome 9|oral facial digital syndrome 9|oral-facial-digital syndrome type 9|oral-facial-digital syndrome with retinal abnormalities|oral-Facial-digital syndrome with retinal abnormalities|orofaciodigital syndrome with retinal abnormalities|Ofds 9|oral facial digital syndrome type 9|OFD9|orofaciodigital syndrome IX|orofaciodigital syndrome type 9|oral-Facial-digital syndrome, type 9|orofaciodigital syndrome type IX GARD:0010520|DOID:0060382|UMLS:C0796102|Orphanet:141007|SCTID:718680001|MESH:C557818|ICD10:Q87.0|OMIM:258865 https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 owl:Class ENVO:01001483 biolink:NamedThing surface of an astronomical body A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020703 biolink:NamedThing erythroid neoplasm tmpte7i6ely_mondo_relaxed.owl erythroid tumor|erythroid neoplasm NCIT:C7064 owl:Class MONDO:0018490 biolink:NamedThing cono-spondylar dysplasia Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. tmpte7i6ely_mondo_relaxed.owl short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome Orphanet:420794|SCTID:766874001|UMLS:CN237491|ICD10:Q77.7 owl:Class MONDO:0021283 biolink:NamedThing malignant teratoma of mediastinum A malignant teratoma that involves the mediastinum. tmpte7i6ely_mondo_relaxed.owl immature malignant teratoma of mediastinum|immature malignant teratoma of the mediastinum|malignant teratoma of the mediastinum|mediastinum malignant teratoma|mediastinal immature malignant teratoma|malignant mediastinal teratoma SCTID:278042005|NCIT:C4668|UMLS:C0349663 owl:Class UBERON:0010557 biolink:NamedThing pedal digit 1 metatarsal cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014341 biolink:NamedThing complex cortical dysplasia with other brain malformations 6 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. tmpte7i6ely_mondo_relaxed.owl cortical dysplasia, Complex, with Other brain malformations type 6|cortical dysplasia, complex, with other brain malformations 6|complex cortical dysplasia with other brain malformations caused by mutation in TUBB|TUBB complex cortical dysplasia with other brain malformations|CDCBM56|complex cortical dysplasia with other brain malformations type 6|CDCBM6 DOID:0090136|OMIM:615771|UMLS:C4014283 owl:Class HGNC:5440 biolink:NamedThing IFNGR2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:559 biolink:NamedThing AP1S1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003371 biolink:NamedThing breast leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of the breast|leiomyosarcoma of breast|breast leiomyosarcoma DOID:5285|UMLS:C1332631|NCIT:C5186 owl:Class MONDO:0015519 biolink:NamedThing congenital or early infantile CACH syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:603896|Orphanet:157713|ICD10:E75.2 owl:Class GO:0005911 biolink:NamedThing cell-cell junction A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. tmpte7i6ely_mondo_relaxed.owl intercellular junction owl:Class MONDO:0027749 biolink:NamedThing serpinopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:250805 owl:Class NCBITaxon:6199 biolink:NamedThing Cestoda tmpte7i6ely_mondo_relaxed.owl tapeworms GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004240 biolink:NamedThing gall bladder smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002123 biolink:NamedThing calcinosis Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. tmpte7i6ely_mondo_relaxed.owl calcium deposit(s)|pathologically calcified structure|deposit(s), calcium|pathologic calcification|calcification|macrocalcification NCIT:C3672|ICD9:275.49|DOID:182|HP:0003761|EFO:0003837|MESH:D002114|SCTID:6595006 owl:Class MONDO:0021070 biolink:NamedThing sublingual gland carcinoma A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma. tmpte7i6ely_mondo_relaxed.owl sublingual gland cancer|carcinoma of sublingual gland|sublingual gland carcinoma|carcinoma of the sublingual gland SCTID:254466003|UMLS:C0345611|NCIT:C8397 owl:Class MONDO:0012938 biolink:NamedThing Diamond-Blackfan anemia 7 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene. tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan Anemia type 7|Diamond-Blackfan anemia 7|Diamond-Blackfan anemia caused by mutation in RPL11|RPL11 Diamond-Blackfan anemia|DBA7 OMIM:612562|MESH:C567254|UMLS:C2675512 owl:Class CHEBI:35545 biolink:NamedThing bipyridine tmpte7i6ely_mondo_relaxed.owl bipyridine|Bipyridin|bipyridyl owl:Class MONDO:0054752 biolink:NamedThing multiple synostoses syndrome 4 tmpte7i6ely_mondo_relaxed.owl multiple synostoses syndrome 4|SYNS4 OMIM:617898|UMLS:CN842246 owl:Class HGNC:19042 biolink:NamedThing MASTL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024307 biolink:NamedThing prothrombin deficiency tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011120 biolink:NamedThing neural tube defects, folate-sensitive tmpte7i6ely_mondo_relaxed.owl NTD, folate-sensitive|neural tube defects, folate-sensitive|spina bifida, folate-sensitive|NTDFS Orphanet:268357|UMLS:C1866558|Orphanet:823|OMIM:601634 owl:Class MONDO:0002919 biolink:NamedThing posterior cranial fossa meningioma A meningioma that affects the posterior cranial fossa. tmpte7i6ely_mondo_relaxed.owl meningioma of the posterior cranial fossa|meningioma of posterior cranial fossa|posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa DOID:4211|UMLS:C1335448|NCIT:C6775 owl:Class MONDO:0013605 biolink:NamedThing brittle cornea syndrome 2 Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene. tmpte7i6ely_mondo_relaxed.owl brittle cornea syndrome type 2|brittle cornea syndrome 2|brittle cornea syndrome caused by mutation in PRDM5|PRDM5 brittle cornea syndrome|BCS2 OMIM:614170|Orphanet:90354|UMLS:C3280011 owl:Class MONDO:0010287 biolink:NamedThing hereditary spastic paraplegia 16 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 16|SPG16|X-linked spastic paraplegia type 16|hereditary spastic paraplegia type 16|X-linked spastic paraplegia 16|spastic paraplegia 16, X-linked OMIM:300266|UMLS:C1846046|ICD10:G11.4|GARD:0009585|Orphanet:100997|DOID:0110769|MESH:C536643 owl:Class MONDO:0010245 biolink:NamedThing X-linked cone-rod dystrophy 2 tmpte7i6ely_mondo_relaxed.owl CORDX2|cone dystrophy X-linked 2|COD2|cone-rod dystrophy, X-linked, 2|cone-rod dystrophy X-linked 2|X-linked cone dystrophy 2|cone dystrophy 2, X-linked|X-linked cone-rod dystrophy type 2 GARD:0001462|OMIM:300085|DOID:0111006|MESH:C564717 https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2 owl:Class CHEBI:38560 biolink:NamedThing simple protein tmpte7i6ely_mondo_relaxed.owl simple proteins owl:Class CHEBI:35406 biolink:NamedThing oxoanion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. tmpte7i6ely_mondo_relaxed.owl oxoacid anions|oxoanions|oxoanion owl:Class MONDO:0020446 biolink:NamedThing coronary sinus stenosis tmpte7i6ely_mondo_relaxed.owl Orphanet:99117|ICD10:Q21.1 owl:Class NCBITaxon:36826 biolink:NamedThing Clostridium botulinum A tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:8863443 ncbi_taxonomy owl:Class PATO:0001396 biolink:NamedThing cellular quality A monadic quality of continuant that exists at the cellular level of organisation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017160 biolink:NamedThing behavioral variant of frontotemporal dementia Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. tmpte7i6ely_mondo_relaxed.owl bv-FTD SCTID:716994006|ICD10:G31.0|OMIM:600274|OMIM:600795|Orphanet:275864|OMIM:616437|UMLS:C4011788 owl:Class GO:1901698 biolink:NamedThing response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpte7i6ely_mondo_relaxed.owl response to nitrogen molecular entity owl:Class NCBITaxon:262 biolink:NamedThing Francisella tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:8123561|PMID:19783615 ncbi_taxonomy owl:Class MONDO:0015828 biolink:NamedThing uterovaginal malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:180062 owl:Class MONDO:0003554 biolink:NamedThing adenosquamous colon carcinoma An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpte7i6ely_mondo_relaxed.owl colonic adenosquamous carcinoma|adenosquamous carcinoma of colon|colon adenosquamous carcinoma|colon adenosquamous cancer|adenosquamous carcinoma of the colon|adenosquamous colon carcinoma DOID:5629|UMLS:C1333082|NCIT:C5491 owl:Class MONDO:0011748 biolink:NamedThing Usher syndrome type 1G Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene. tmpte7i6ely_mondo_relaxed.owl Usher syndrome type 1G|Usher syndrome, type 1G|USH1G Usher syndrome|Usher syndrome type Ig|USHER syndrome, type Ig|USH1G|Usher syndrome caused by mutation in USH1G Orphanet:231169|Orphanet:886|ICD10:H35.5|UMLS:C1847089|DOID:0110834|MESH:C564643|OMIM:606943 owl:Class ECTO:0000931 biolink:NamedThing exposure to environmental contaminant An exposure to environmental contaminant. tmpte7i6ely_mondo_relaxed.owl exposure to environmental contaminant owl:Class MONDO:0054636 biolink:NamedThing Skraban-Deardorff syndrome tmpte7i6ely_mondo_relaxed.owl intellectual disability with seizures, abnormal Gait, and distinctive Facial features|Skraban-Deardorff syndrome|SKDEAS UMLS:C4539927|OMIM:617616|Orphanet:513456 owl:Class CL:0001012 biolink:NamedThing CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor tmpte7i6ely_mondo_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). cell owl:Class MONDO:0016551 biolink:NamedThing congenital primary megaureter, refluxing form tmpte7i6ely_mondo_relaxed.owl Orphanet:238650|ICD10:Q62.2 owl:Class MONDO:0000950 biolink:NamedThing asthenopia Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches. tmpte7i6ely_mondo_relaxed.owl accommodative strain ICD10:H53.14|MESH:D001248|DOID:10141|UMLS:C0004095 owl:Class MONDO:0010051 biolink:NamedThing spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents. tmpte7i6ely_mondo_relaxed.owl spastic quadriplegia retinitis pigmentosa intellectual disability|spastic quadriplegia, retinitis pigmentosa, and intellectual disability|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss|spastic quadriplegia, retinitis pigmentosa, and mental retardation|spastic quadriplegia retinitis pigmentosa mental retardation|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss OMIM:270950|MESH:C564808|Orphanet:3011|UMLS:C1849112|GARD:0004932 owl:Class MONDO:0008447 biolink:NamedThing hereditary spherocytosis type 1 Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene. tmpte7i6ely_mondo_relaxed.owl Sph|hereditary spherocytosis caused by mutation in ANK1|spherocytosis, type 1|HS1|spherocytosis, hereditary, 1|ANK1 hereditary spherocytosis|hereditary spherocytosis 1|SPH1 OMIM:182900|UMLS:C2674218|Orphanet:822|DOID:0110916 owl:Class MONDO:0019350 biolink:NamedThing hereditary spherocytosis Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. tmpte7i6ely_mondo_relaxed.owl spherocytic anemia|hereditary spherocytosis|Minkowski Chauffard syndrome|congenital spherocytosis|Minkowski-Chauffard disease|congenital spherocytic hemolytic anemia ICD10:D58.0|MESH:D013103|OMIM:612653|MedDRA:10019904|OMIM:270970|OMIM:612690|OMIM:182900|DOID:12971|SCTID:55995005|UMLS:CN206031|ICD9:282.0|NCIT:C97074|Orphanet:822|OMIM:616649|UMLS:C0037889|GARD:0006639 https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis owl:Class UBERON:2001073 biolink:NamedThing axial vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015181 biolink:NamedThing neck of tooth tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8743 biolink:NamedThing PCSK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011579 biolink:NamedThing late-onset retinal degeneration Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. tmpte7i6ely_mondo_relaxed.owl late-onset retinal degeneration|LORD|autosomal dominant late-onset retinal degeneration|pigmentary retinopathy|retinal Degeneration, late-onset, autosomal dominant Orphanet:67042|SCTID:719431007|UMLS:C1854065|MESH:C565309|GARD:0004357|DOID:0060869|OMIM:605670 owl:Class MONDO:0015826 biolink:NamedThing autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. tmpte7i6ely_mondo_relaxed.owl spondylocostal dysostosis, autosomal dominant|autosomal dominant spondylocostal dysplasia SCTID:716232002|ICD10:Q76.4|Orphanet:1797|UMLS:CN200437|UMLS:C4274761|OMIM:122600 owl:Class GO:0071214 biolink:NamedThing cellular response to abiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. tmpte7i6ely_mondo_relaxed.owl cellular response to abiotic stress owl:Class GO:0104004 biolink:NamedThing cellular response to environmental stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003615 biolink:NamedThing lung elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032639 biolink:NamedThing hearing loss, autosomal recessive 112 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 112|DFNB112 OMIM:618257|DOID:0111637 owl:Class HGNC:6913 biolink:NamedThing MAX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008576 biolink:NamedThing toe, fifth, number of phalanges 1N tmpte7i6ely_mondo_relaxed.owl toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN OMIM:189000 owl:Class OBO:CHR_9606-chr16q24.1 biolink:NamedThing 16q24.1 (Human) tmpte7i6ely_mondo_relaxed.owl 87000000 84100000 hg38 owl:Class MONDO:0043164 biolink:NamedThing palmer pagon syndrome tmpte7i6ely_mondo_relaxed.owl hydrocephaly - low insertion umbilicus|familial hydrocephalus with a low-insertion umbilicus MESH:C538107|Orphanet:2184|GARD:0004199|UMLS:C2931734 owl:Class MONDO:0009724 biolink:NamedThing nail-patella-like renal disease Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. tmpte7i6ely_mondo_relaxed.owl glomerular basement Membrane disease, nail-patella syndrome type|nail patella like renal disease|nail-patella-like renal disease|Salcedo syndrome UMLS:C0403548|ICD9:756.89|MESH:C537228|OMIM:256020|GARD:0000321|Orphanet:2613|SCTID:236527004 owl:Class NCBITaxon:41283 biolink:NamedThing Chrysosporium parvum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40411 biolink:NamedThing Chrysosporium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012732 biolink:NamedThing tremor, hereditary essential, and idiopathic normal pressure hydrocephalus tmpte7i6ely_mondo_relaxed.owl ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus MESH:C567519|UMLS:C2678494|OMIM:611808 owl:Class UBERON:0010336 biolink:NamedThing mandibular process mesenchyme from neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001662 biolink:NamedThing Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute). tmpte7i6ely_mondo_relaxed.owl Brachycardia|Slow heartbeats SNOMEDCT_US:48867003|MSH:D001919|UMLS:C0428977 human_phenotype owl:Class CL:0002308 biolink:NamedThing epithelial cell of skin gland An epithelial cell of a skin gland. tmpte7i6ely_mondo_relaxed.owl epithelial cell of gland of skin FMA:70657 tmeehan 2010-09-14T12:00:07Z cell owl:Class MONDO:0015604 biolink:NamedThing middle ear anomaly tmpte7i6ely_mondo_relaxed.owl MedDRA:10060957|Orphanet:164004|ICD10:Q16.4|ICD10:Q16.3 owl:Class CHEBI:83813 biolink:NamedThing proteinogenic amino acid Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration. tmpte7i6ely_mondo_relaxed.owl canonical amino acid|canonical amino acids|proteinogenic amino acids owl:Class MONDO:0005788 biolink:NamedThing hepatitis E virus infection Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. tmpte7i6ely_mondo_relaxed.owl Hepatitis E virus hepatitis|Hepatitis E virus caused hepatitis|hepatitis type E EFO:0007303|MESH:D016751|SCTID:7111000119109|DOID:4411|UMLS:C0085293|GARD:0009541 https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e owl:Class MONDO:0008962 biolink:NamedThing Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. tmpte7i6ely_mondo_relaxed.owl pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli disease type 1|GS1|partial albinism and primary neurologic disease without hemophagocytic syndrome|Griscelli syndrome, type 1|hypopigmentation-neurologic impairment syndrome|Griscelli syndrome, cutaneous and neurologic type|Griscelli syndrome type 1|Griscelli-Pruniéras syndrome type 1|Griscelli-PruniC)ras syndrome type 1|Griscelli syndrome with neurologic impairment|Griscelli syndrome, cutaneous and neurological type|Griscelli syndrome with neurological impairment GARD:0002566|DOID:0060832|ICD10:E70.3|Orphanet:79476|Orphanet:381|UMLS:C1859194|MESH:C537301|OMIM:214450 https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 owl:Class MONDO:0015144 biolink:NamedThing brain inflammatory disease An inflammatory disease involving a pathogenic inflammatory response in the brain. tmpte7i6ely_mondo_relaxed.owl inflammation of brain|brain inflammation Orphanet:102005|UMLS:CN197488 owl:Class HGNC:26560 biolink:NamedThing ODAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001575 biolink:NamedThing decreased pressure A pressure which is relatively low. tmpte7i6ely_mondo_relaxed.owl low pressure owl:Class MONDO:0014111 biolink:NamedThing cataract 19 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene. tmpte7i6ely_mondo_relaxed.owl LIM2 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in LIM2|CTRCT19|cataract type 19|cataract 19|cataract 19, multiple types DOID:0110263|Orphanet:91492|UMLS:C3809004|ICD10:Q12.0|OMIM:615277|Orphanet:98984 owl:Class HGNC:20305 biolink:NamedThing SLC34A3 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:0010003 biolink:NamedThing agricultural environmental material tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009634 biolink:NamedThing microtia with meatal atresia and conductive deafness tmpte7i6ely_mondo_relaxed.owl familial microtia and meatal atresia|familial microtia with meatal atresia and conductive deafness|Gupta Patton syndrome|microtia with meatal atresia and conductive deafness|microtia, meatal atresia and conductive deafness|microtia meatal atresia deafness dominant OMIM:251800|UMLS:C2931502|GARD:0000357|MESH:C537469|GARD:0003657 owl:Class UBERON:0005135 biolink:NamedThing metanephric glomerular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007082 biolink:NamedThing alopecia areata 1 tmpte7i6ely_mondo_relaxed.owl AA1|alopecia areata 1|alopecia universalis UMLS:C1863094|OMIM:104000|Orphanet:700|Orphanet:701|UMLS:C0263505 owl:Class MONDO:0005340 biolink:NamedThing alopecia areata Loss of scalp and body hair involving microscopically inflammatory patchy areas. tmpte7i6ely_mondo_relaxed.owl alopecia circumscripta|alopecia Circumscripta|circumscribed alopecia|patchy loss of hair|alopecia areata ICD9:704.01|MESH:D000506|OMIM:610753|EFO:0004192|GARD:0005782|ICD10:L63|UMLS:C0002171|DOID:986|OMIM:104000|SCTID:68225006|ICD10:L63.9 owl:Class MONDO:0011540 biolink:NamedThing spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 14|SCA14|spinocerebellar ataxia type 14 UMLS:C4304883|OMIM:605361|UMLS:C1854369|DOID:0050964|GARD:0009867|MESH:C537196|SCTID:719210007|Orphanet:98763|ICD10:G11.2 owl:Class MONDO:0004538 biolink:NamedThing endocervical type cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. tmpte7i6ely_mondo_relaxed.owl cervical mucinous adenocarcinoma, endocervical type|cervical adenocarcinoma, endocervical type NCIT:C40202|DOID:8340|UMLS:C1516421 owl:Class MONDO:0044657 biolink:NamedThing MME-related autosomal dominant Charcot Marie Tooth disease type 2 tmpte7i6ely_mondo_relaxed.owl MME-related autosomal dominant hereditary motor and sensory neuropathy type 2|MME-related autosomal dominant CMT2 Orphanet:497757|OMIM:617017 owl:Class MONDO:0015809 biolink:NamedThing localized pagetoid reticulosis A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported. tmpte7i6ely_mondo_relaxed.owl pagetoid reticulosis|pagetoid reticulosis, Woringer-Kolopp type|localised reticulosis|localized reticulosis Orphanet:178517|ICD10:C84.0|ICD9:202.70|MESH:D056267|UMLS:C1276140|NCIT:C35794|SCTID:404120006 owl:Class MONDO:0100462 biolink:NamedThing short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. tmpte7i6ely_mondo_relaxed.owl OD|osteochondritis dissecans and short stature|osteochondritis dissecans, short stature, and early-onset osteoarthritis|SSOAOD Orphanet:251262|OMIM:165800 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4167 owl:Class MONDO:0018239 biolink:NamedThing aggrecan-related bone disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227289|Orphanet:364817 owl:Class CHEBI:35107 biolink:NamedThing azane Saturated acyclic nitrogen hydrides having the general formula NnHn+2. tmpte7i6ely_mondo_relaxed.owl azanes owl:Class MONDO:0002861 biolink:NamedThing testis sarcoma A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. tmpte7i6ely_mondo_relaxed.owl testis sarcoma|testicular sarcoma|sarcoma of the testis|sarcoma of testis NCIT:C6359|UMLS:C1336727|DOID:4062 owl:Class GO:0030278 biolink:NamedThing regulation of ossification Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpte7i6ely_mondo_relaxed.owl regulation of bone formation|regulation of bone biosynthesis owl:Class MONDO:0044656 biolink:NamedThing epidermolytic nevus tmpte7i6ely_mondo_relaxed.owl epidermolytic epidermal nevus|Epidermal nevus with epidermolytic hyperkeratosis|epidermolytic verrucous epidermal nevus Orphanet:497737|SCTID:400142003|UMLS:C1302848 owl:Class MONDO:0100151 biolink:NamedThing nephropathic cystinosis An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. tmpte7i6ely_mondo_relaxed.owl Abderhalden-Kaufmann-Lignac syndrome|Abderhalden Lignac Kaufmann disease|CTNS|Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease|cystinosis, nephropathic OMIM:219800|MESH:C535335|NCIT:C129932|UMLS:C2930877 owl:Class ENVO:01000203 biolink:NamedThing environmental condition An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005638 biolink:NamedThing anterior chamber epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003758 biolink:NamedThing childhood testicular germ cell tumor A germ cell tumor that arises from the testis during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric testicular germ cell tumor|childhood testicular germ cell tumor|testicular germ cell tumor of childhood|pediatric testicular germ cell neoplasm|testicular germ cell tumor|childhood testicular germ cell neoplasm NCIT:C6552|UMLS:C0796663|DOID:6082 owl:Class MONDO:0037250 biolink:NamedThing childhood testicular neoplasm A neoplasm that arises from the testis during childhood. tmpte7i6ely_mondo_relaxed.owl childhood neoplasm of the testis|childhood neoplasm of testis|pediatric testicular neoplasm|pediatric neoplasm of the testis|childhood testicular neoplasm|neoplasm of testis of childhood|pediatric neoplasm of testis|testicular tumor, childhood NCIT:C5053 owl:Class HGNC:2993 biolink:NamedThing DONSON tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018902 biolink:NamedThing hepatocellular adenoma A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. tmpte7i6ely_mondo_relaxed.owl adenoma of the liver cells|liver cell adenoma|HCA|adenoma of liver cells|LIAD|hepatocellular adenoma|adenoma, hepatocellular, benign EFO:0000762|ICDO:8170/0|DOID:0050868|MESH:D018248|ICD10:D13.4|UMLS:C0206669|ONCOTREE:LIAD|OMIM:142330|Orphanet:54272|OMIM:114550|NCIT:C3758|MedDRA:10019827 owl:Class MONDO:0007253 biolink:NamedThing cancer, familial, with in vitro Radioresistance tmpte7i6ely_mondo_relaxed.owl cancer, familial, with in vitro RADIORESISTANCE MESH:C566179|UMLS:C1861915|OMIM:114450 owl:Class GO:1904318 biolink:NamedThing regulation of smooth muscle contraction involved in micturition Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpte7i6ely_mondo_relaxed.owl regulation of smooth muscle contraction involved in urination|regulation of urinary bladder smooth muscle contraction involved in micturition owl:Class UBERON:0005047 biolink:NamedThing mucosa of vocal fold tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012263 biolink:NamedThing autoimmune disease, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl autoimmune disease, susceptibility to, 4|autoimmune disease susceptibility locus, chromosome 4-related|vitiligo-associated multiple autoimmune disease susceptibility 5|AIS4 OMIM:609400 owl:Class MONDO:0015921 biolink:NamedThing ARX-related epileptic encephalopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:182079 owl:Class MONDO:0004782 biolink:NamedThing diabetes insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. tmpte7i6ely_mondo_relaxed.owl UMLS:C0011848|ICD9:253.5|GARD:0011934|NCIT:C43263|SCTID:15771004|DOID:9409|ICD10:E23.2|MESH:D003919 owl:Class MONDO:0044079 biolink:NamedThing cardio-renal syndrome A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. tmpte7i6ely_mondo_relaxed.owl cardiorenal syndromes|Renocardiac syndromes|syndrome, cardio-renal|Renocardiac syndrome|syndrome, Reno-Cardiac|cardio renal syndrome|syndrome, cardiorenal|Reno-Cardiac syndrome|syndrome, Renocardiac|Reno Cardiac syndrome|Reno-Cardiac syndromes|cardio-renal syndromes|cardiorenal syndrome|syndromes, cardiorenal|syndromes, Reno-Cardiac|syndromes, cardio-renal|syndromes, Renocardiac EFO:1001262|NCIT:C123225|SCTID:445236007|MESH:D059347|UMLS:C2242703 owl:Class MONDO:0013848 biolink:NamedThing dilated cardiomyopathy 2B Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene. tmpte7i6ely_mondo_relaxed.owl GATAD1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in GATAD1|dilated cardiomyopathy 2B|cardiomyopathy, dilated, type 2B|cardiomyopathy, dilated, 2B|CMD2B|dilated cardiomyopathy type 2B ICD10:I42.0|Orphanet:154|OMIM:614672|DOID:0110441|UMLS:C3553409 owl:Class HP:0010535 biolink:NamedThing Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. tmpte7i6ely_mondo_relaxed.owl Sleep apnoea|Pauses in breathing while sleeping SNOMEDCT_US:73430006|UMLS:C0037315|MSH:D012891 peter 2009-09-21T08:53:35Z human_phenotype owl:Class MONDO:0007195 biolink:NamedThing bifid nose, autosomal dominant tmpte7i6ely_mondo_relaxed.owl bifid nose, autosomal dominant Orphanet:2695|OMIM:109740|UMLS:C2751431 owl:Class MONDO:0000110 biolink:NamedThing bifid nose Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. tmpte7i6ely_mondo_relaxed.owl GARD:0000884|Orphanet:2695|OMIM:210400|ICD10:Q30.2|UMLS:CN227089|OMIM:109740|MESH:C535441 owl:Class MONDO:0003732 biolink:NamedThing adult central nervous system mature teratoma A central nervous system mature teratoma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult central nervous system mature teratoma|central nervous system mature teratoma of adults UMLS:C1332194|DOID:6016|NCIT:C27400 owl:Class MONDO:0003733 biolink:NamedThing central nervous system mature teratoma A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl mature teratoma of the CNS|mature teratoma of central nervous system|mature teratoma of the central nervous system|mature teratoma of CNS|central nervous system mature teratoma|mature teratoma|CNS mature teratoma UMLS:C1332886|NCIT:C7013|DOID:6017|ONCOTREE:BMT owl:Class MONDO:0012144 biolink:NamedThing Waardenburg syndrome type 2D Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome type IID|Waardenburg syndrome type 2 caused by mutation in SNAI2|WS2D|SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome, type 2D UMLS:C1837203|OMIM:608890|DOID:0110952|Orphanet:895|MESH:C563839|Orphanet:3440 owl:Class MONDO:0008054 biolink:NamedThing juvenile dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. tmpte7i6ely_mondo_relaxed.owl JPM|childhood dermatomyositis|juvenile dermatomyositis|JDM|myositis|myoseptum inflammation|inflammation of myoseptum|juvenile myositis|myoseptumitis|myopathy, familial idiopathic inflammatory|childhood type dermatomyositis|juvenile DM EFO:0000557|SCTID:1212005|MedDRA:10008521|Orphanet:93672|NCIT:C27576|UMLS:C2931785|DOID:14203|MESH:C000598745|GARD:0006805|ICD10:M33.0|MESH:C538250|MESH:D003882 https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis owl:Class MONDO:0001855 biolink:NamedThing rubeosis iridis tmpte7i6ely_mondo_relaxed.owl ICD10:H21.1|DOID:14000|ICD9:364.42|SCTID:51995000|UMLS:C0154916 owl:Class MONDO:0018436 biolink:NamedThing megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. tmpte7i6ely_mondo_relaxed.owl megakaryoblastic AML with t(1;22)(p13;q13) SCTID:763796007|Orphanet:402023|ICD10:C94.2 owl:Class MONDO:0021516 biolink:NamedThing benign neoplasm of glottis A benign neoplasm that involves the glottis. tmpte7i6ely_mondo_relaxed.owl benign tumor of glottis|benign tumor of the glottis|glottis benign neoplasm|benign glottis tumor|benign glottis neoplasm|benign neoplasm of the glottis SCTID:92123007|NCIT:C4605|UMLS:C0347234 owl:Class MONDO:0024559 biolink:NamedThing AAT1 tmpte7i6ely_mondo_relaxed.owl AAT1|aortic aneurysm, familial thoracic 1|FAA1|annuloaortic ectasia|aortic dissection, familial|aortic aneurysm, familial thoracic|Erdheim cystic medial necrosis of aorta|aneurysm, thoracic aortic Orphanet:91387|UMLS:C0392775|Orphanet:229|OMIM:607086 owl:Class ECTO:7000012 biolink:NamedThing exposure to soil A exposure event involving the interaction of an exposure receptor to soil. tmpte7i6ely_mondo_relaxed.owl soil exposure owl:Class MONDO:0013854 biolink:NamedThing primary ciliary dyskinesia 17 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 17 with or without situs inversus|CILD17|primary ciliary dyskinesia type 17|CCDC103 primary ciliary dyskinesia|ciliary dyskinesia, primary, 17|ciliary dyskinesia, primary, 17, with or without situs inversus|ciliary dyskinesia, primary, type 17|primary ciliary dyskinesia caused by mutation in CCDC103|primary ciliary dyskinesia 17 ICD10:Q34.8|OMIM:614679|DOID:0110621|UMLS:C3542550 owl:Class UBERON:0011004 biolink:NamedThing pharyngeal arch cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013622 biolink:NamedThing platelet-type bleeding disorder 9 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene. tmpte7i6ely_mondo_relaxed.owl collagen platelet receptor deficiency|ITGA2 inherited bleeding disorder, platelet-type|GP Ia deficiency|bleeding disorder, platelet-type, 9|BDPLT9|inherited bleeding disorder, platelet-type caused by mutation in ITGA2|glycoprotein Ia deficiency|bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886|Orphanet:73271|ICD10:D69.8|OMIM:614200|DOID:0111045|MESH:C566000 owl:Class MONDO:0019138 biolink:NamedThing bleeding diathesis due to a collagen receptor defect tmpte7i6ely_mondo_relaxed.owl Orphanet:73271|ICD10:D69.8|OMIM:614200|OMIM:614201 owl:Class GO:0045276 biolink:NamedThing plasma membrane respiratory chain complex III A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species. tmpte7i6ely_mondo_relaxed.owl plasma membrane coenzyme Q-cytochrome c oxidoreductase complex|plasma membrane coenzyme Q-cytochrome c reductase complex|plasma membrane ubiquinol-cytochrome-c reductase complex|plasma membrane cytochrome bc1 complex|ubiquinol-cytochrome-c reductase complex|respiratory chain complex III|ubiquinol-cytochrome c oxidoreductase complex owl:Class MONDO:0014746 biolink:NamedThing SLC39A8-CDG tmpte7i6ely_mondo_relaxed.owl CDG2N|congenital disorder of glycosylation type IIn|SLC39A8 deficiency|carbohydrate deficient glycoprotein syndrome type IIn|congenital disorder of glycosylation, type IIn|CDG-IIn|congenital disorder of glycosylation type 2n|CDG IIn|CDG syndrome type IIn Orphanet:468699|UMLS:C4225234|DOID:0070266|OMIM:616721|UMLS:CN234734 owl:Class UBERON:0001202 biolink:NamedThing pyloric sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000754 biolink:NamedThing anal fistula A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. tmpte7i6ely_mondo_relaxed.owl anorectal fistula|anal fistula|anal fistula (disease) anal fistula (disease) DOID:0060328|NCIT:C60785|ICD10:K60.3|SCTID:72779005|HP:0010447|MESH:D012003|Orphanet:228113 owl:Class MONDO:0020110 biolink:NamedThing pulmonary agenesis An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. tmpte7i6ely_mondo_relaxed.owl congenital lung agenesis|unilateral lung agenesis|congenital absence of lung|unilateral lobar pulmonary agenesis UMLS:C0265780|ICD10:Q33.3|NCIT:C99028|GARD:0009119|MedDRA:10037322|SCTID:66489009|Orphanet:984|ICD9:748.5 owl:Class MONDO:0014528 biolink:NamedThing chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). tmpte7i6ely_mondo_relaxed.owl chronic atrial and intestinal dysrhythmia|chronic atrial and intestinal dysrhythmia syndrome|caid syndrome|chronic atrial intestinal dysrhythmia syndrome|chronic atrial dysrhythmia-intestinal motility disorder|Cohesinopathy affecting heart and gut rhythm|caid GARD:0012281|OMIM:616201|ICD10:K59.8|Orphanet:435988|SCTID:720507006|DOID:0060339|UMLS:C4015474 owl:Class MONDO:0000466 biolink:NamedThing first-degree atrioventricular block A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. tmpte7i6ely_mondo_relaxed.owl first degree AV block|atrioventricular block, first degree|atrioventricular block first degree|first degree atrioventricular block|AV block first degree SCTID:270492004|ICD9:426.11|UMLS:C0085614|DOID:0050821|NCIT:C62015 owl:Class MONDO:0016750 biolink:NamedThing microcephaly-cleft palate syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl microcephaly-cleft palate-abnormal retinal pigmentation syndrome|Halal syndrome|microcephaly cleft palate autosomal dominant SCTID:719394002|UMLS:C2930954|Orphanet:2521|GARD:0008623|MESH:C535622|ICD10:Q87.8 owl:Class MONDO:0003401 biolink:NamedThing central nervous system endodermal sinus tumor A yolk sac tumor that arises from the central nervous system and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood central nervous system endodermal sinus neoplasm|central nervous system yolk Sac tumor|pediatric central nervous system endodermal sinus neoplasm|childhood central nervous system yolk Sac tumor|central nervous system yolk sac tumor|pediatric central nervous system yolk Sac tumor|childhood central nervous system endodermal sinus tumor|pediatric central nervous system yolk Sac neoplasm|central nervous system endodermal sinus tumor|childhood central nervous system yolk Sac neoplasm|yolk Sac tumor of the CNS NCIT:C6209|DOID:5343|NCIT:C7011 owl:Class HGNC:4942 biolink:NamedThing HLA-DQA1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099024 biolink:NamedThing plasma membrane invagination An infolding of the plasma membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009955 biolink:NamedThing rapadilino syndrome RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. tmpte7i6ely_mondo_relaxed.owl rapadilino syndrome|radial and patellar aplasia|radial and patellar hypoplasia|absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate OMIM:266280|DOID:0050774|GARD:0004637|MESH:C535288|ICD10:Q87.1|SCTID:702413000|ICD9:759.89|UMLS:C1849453|Orphanet:3021 https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome owl:Class MONDO:0009514 biolink:NamedThing Laurence-Moon syndrome A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. tmpte7i6ely_mondo_relaxed.owl LMS|Laurence-MOON syndrome|LNMS|Laurence-Moon-Biedl syndrome|Laurence-Moon syndrome NCIT:C34760|SCTID:232059000|ICD10:Q87.8|Orphanet:2377|OMIM:245800|MedDRA:10056710|MESH:D007849|SCTID:5619004|DOID:1930|ICD9:253.4|GARD:0012635|UMLS:C0023138 https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome owl:Class FOODON:00001262 biolink:NamedThing botanical fruit food product Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001621 biolink:NamedThing tick-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. tmpte7i6ely_mondo_relaxed.owl Relapsing fever, tick-borne DOID:13036|UMLS:C0035022|ICD9:087.1|ICD10:A68.1|SCTID:10301003|NCIT:C34976 owl:Class MONDO:0012337 biolink:NamedThing glaucoma 1, open angle, I tmpte7i6ely_mondo_relaxed.owl GLC1I|glaucoma 1, open angle, I MESH:C565724|UMLS:C1857852|OMIM:609745 owl:Class MONDO:0011722 biolink:NamedThing intellectual disability-obesity-prognathism-eye and skin anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Momes syndrome|intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies|MOMES syndrome|mental retardation, obesity, mandibular prognathism, and eye and skin anomalies ICD10:Q87.8|MESH:C564660|UMLS:C1847522|OMIM:606772|Orphanet:397973 owl:Class GO:0015748 biolink:NamedThing organophosphate ester transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006192 biolink:NamedThing mesonephric proximal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034092 biolink:NamedThing optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:543470 owl:Class NCBITaxon:6210 biolink:NamedThing Echinococcus granulosus tmpte7i6ely_mondo_relaxed.owl Echinococcus granulosus sensu stricto|Echinococcus granulosus buffalo strain|Echinococcus granulosus G3 strain|Echinococcus granulosus Tasmanian sheep strain|Echinococcus granulosus G2 strain|Echinococcus granulosus sheep strain|Echinococcus granulosus G1 strain|Echinococcus granulosus s. s. PMID:17156584|PMID:18180956|PMID:16352465|PMID:18338180|PMID:12964823|GC_ID:1|PMID:12377596 ncbi_taxonomy owl:Class NCBITaxon:2212966 biolink:NamedThing Echinococcus granulosus group tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010811 biolink:NamedThing benign prostatic hyperplasia A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. tmpte7i6ely_mondo_relaxed.owl prostatic hypertrophy|benign prostatic hyperplasia|benign prostate hyperplasia|benign hyperplasia of the prostate|benign prostatic hyperplasia (disease)|benign prostatic Hypertrophy|benign hyperplasia of prostate|prostate hypertrophy|BPH|benign prostatic hypertrophy|benign prostatic hyperplasia - BPH|prostatic hyperplasia, benign benign prostatic hyperplasia (disease) UMLS:C1704272|ICD9:600.20|NCIT:C2897|MESH:D011470|OMIM:600082|ICD9:600|SCTID:266569009|HP:0008711|DOID:11132|EFO:0000284|ICD9:600.0|DOID:2883 MONDO:0001201 owl:Class HGNC:17022 biolink:NamedThing HPS5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010094 biolink:NamedThing spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl congenital scoliosis with unilateral unsegmented bar|scoliosis, congenital with unilateral unsegmented bar|congenital synspondylism|scoliosis, congenital, with unilateral unsegmented Bar|Synspondylism, congenital|Synspondylism|spondylocarpotarsal syndrome|SCT|Synspondylism congenital|vertebral fusion with carpal coalition|spondylocarpotarsal synostosis|spondylocarpotarsal synostosis syndrome Orphanet:3275|GARD:4974|GARD:0004974|OMIM:272460|ICD10:Q76.4|SCTID:702351004|UMLS:C1848934|ICD9:758.89|DOID:0090116|MESH:C535780 https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome owl:Class MONDO:0003653 biolink:NamedThing stork bite tmpte7i6ely_mondo_relaxed.owl Unna's nevus|Salmon patch nevus SCTID:254211001|DOID:5806 owl:Class MONDO:0012997 biolink:NamedThing cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. tmpte7i6ely_mondo_relaxed.owl Hardikar syndrome|HARDIKAR syndrome UMLS:C0795969|OMIM:612726|MESH:C535632|GARD:0009280|Orphanet:1415|SCTID:720636001 owl:Class UBERON:0004790 biolink:NamedThing skin mucous gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001006 biolink:NamedThing glaucomatous atrophy of optic disc tmpte7i6ely_mondo_relaxed.owl glaucomatous atrophy [cupping] of optic disc UMLS:C0271342|DOID:10337|ICD10:H47.23|SCTID:1207009|ICD9:377.14 owl:Class MONDO:0007771 biolink:NamedThing hyperpigmentation with or without hypopigmentation, familial progressive tmpte7i6ely_mondo_relaxed.owl hyperpigmentation, familial progressive, 2|FPHH|macules, hereditary congenital hypopigmented and hyperpigmented|melanosis, universal|melanosis universalis hereditaria|hyperpigmentation with or without hypopigmentation, familial progressive|hyperpigmentation, familial progressive, 2, formerly UMLS:C1840392|OMIM:145250|UMLS:C1835039|DOID:0111373|Orphanet:280628|Orphanet:79146 owl:Class MONDO:0014839 biolink:NamedThing chorea, childhood-onset, with psychomotor retardation tmpte7i6ely_mondo_relaxed.owl chorea, childhood-onset, with psychomotor retardation; COCPMR|chorea, childhood-onset, with psychomotor retardation|COCPMR UMLS:C4310787|OMIM:616939 owl:Class NCBITaxon:39724 biolink:NamedThing Circoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732536 biolink:NamedThing Cirlivirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022572 biolink:NamedThing bilateral renal agenesis dominant type tmpte7i6ely_mondo_relaxed.owl GARD:0000885 https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type owl:Class MONDO:0015986 biolink:NamedThing bilateral renal agenesis Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. tmpte7i6ely_mondo_relaxed.owl bilateral renal aplasia|renal agenesis, bilateral ICD10:Q60.1|Orphanet:1848|DOID:0080200|NCIT:C101219 owl:Class MONDO:0017668 biolink:NamedThing intellectual disability-short stature-hypertelorism syndrome Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. tmpte7i6ely_mondo_relaxed.owl mental retardation short stature hypertelorism|intellectual disability short stature hypertelorism|intellectual deficit - short stature - hypertelorism|Stoll-GC)raudel-Chauvin syndrome|Stoll-Géraudel-Chauvin syndrome GARD:0003514|UMLS:CN203552|ICD10:Q87.8|Orphanet:3074 https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism owl:Class MONDO:0015610 biolink:NamedThing acquired aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl rare acquired aplastic anemia|acquired aplastic anemia Orphanet:164823|ICD10:D61.1|SCTID:55907008|EFO:0006926|ICD10:D61.2|UMLS:C0271907 owl:Class HP:0000027 biolink:NamedThing Azoospermia Absence of any measurable level of sperm in his semen. tmpte7i6ely_mondo_relaxed.owl Absent sperm in semen SNOMEDCT_US:48188009|SNOMEDCT_US:425558002|UMLS:C0004509|MSH:D053713 human_phenotype owl:Class HP:0008669 biolink:NamedThing Abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes. tmpte7i6ely_mondo_relaxed.owl Abnormal sperm development|Impaired spermatogenesis SNOMEDCT_US:4529005|UMLS:C4020789|UMLS:C0520933 human_phenotype owl:Class GO:0009206 biolink:NamedThing purine ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleoside triphosphate anabolism|purine ribonucleoside triphosphate formation|purine ribonucleoside triphosphate synthesis|purine ribonucleoside triphosphate biosynthesis owl:Class GO:0009145 biolink:NamedThing purine nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleoside triphosphate formation|purine nucleoside triphosphate synthesis|purine nucleoside triphosphate biosynthesis|purine nucleoside triphosphate anabolism owl:Class MONDO:0002435 biolink:NamedThing oculomotor nerve neoplasm A neoplasm involving a oculomotor nerve. tmpte7i6ely_mondo_relaxed.owl oculomotor nerve neoplasm|tumor of oculomotor nerve|IIIrd cranial nerve tumor|oculomotor nerve neoplasm (disease)|oculomotor nerve tumor|cranial nerve III tumor|neoplasm of oculomotor nerve UMLS:C1263895|NCIT:C6994|DOID:2817|ICD9:239.7|SCTID:126969002 owl:Class MONDO:0011135 biolink:NamedThing superior transverse scapular ligament, calcification of, familial tmpte7i6ely_mondo_relaxed.owl superior transverse scapular ligament, calcification of, familial OMIM:601708|UMLS:C1866424|MESH:C566638 owl:Class MONDO:0003320 biolink:NamedThing blastema predominant kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the blastema component. tmpte7i6ely_mondo_relaxed.owl blastema predominant renal Wilms tumor|blastema predominant kidney Wilms' tumor|blastema predominant renal adenosarcoma|blastema predominant renal Wilm's tumor|blastema predominant kidney adenosarcoma|blastema predominant renal Wilms' tumor|blastema predominant kidney Wilms tumor|blastema predominant Wilms tumor|blastema predominant nephroblastoma DOID:5182|NCIT:C9147|UMLS:C0279609 owl:Class CL:0002140 biolink:NamedThing acinar cell of sebaceous gland A sebum secreting cell of the skin that secretes sebum into the hair follicles. tmpte7i6ely_mondo_relaxed.owl sebocyte FMA:70953|BTO:0004613 tmeehan 2010-08-24T09:27:52Z CL:0002587 cell owl:Class GO:0090324 biolink:NamedThing negative regulation of oxidative phosphorylation Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008200 biolink:NamedThing ion channel inhibitor activity Binds to and stops, prevents, or reduces the activity of an ion channel. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901019 biolink:NamedThing regulation of calcium ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008538 biolink:NamedThing temporal arteritis Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. tmpte7i6ely_mondo_relaxed.owl cranial arteritis|GCA|polymyalgia rheumatica|temporal artery inflammation|Horton's giant cell arteritis|inflammation of temporal artery|giant cell arteritis|Horton's temporal arteritis|Horton's disease|Horton disease|arteritis cranialis|Horton’s syndrome|arteritis temporalis|Horton's arteritis|Horton’s disease|temporal arteritis EFO:1001209|SCTID:400130008|ICD9:446.5|UMLS:C1956391|MedDRA:10043207|GARD:0009615|Orphanet:397|MedDRA:10018250|OMIM:187360|ICD10:M31.6|DOID:13375|NCIT:C35065 owl:Class MONDO:0016516 biolink:NamedThing Kenny-Caffey syndrome A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. tmpte7i6ely_mondo_relaxed.owl Kenny syndrome OMIM:127000|OMIM:244460|Orphanet:2333|SCTID:82837002|UMLS:C0265291|ICD10:Q87.1|NCIT:C130991|MESH:C537020|ICD9:759.89|OMIMPS:127000 owl:Class UBERON:0005287 biolink:NamedThing tela choroidea of fourth ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005293 biolink:NamedThing flatfoot An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. tmpte7i6ely_mondo_relaxed.owl fallen Arch|flat Foot NCIT:C34616|ICD9:734|EFO:0003874|MESH:D005413|SCTID:53226007 owl:Class GO:0004561 biolink:NamedThing alpha-N-acetylglucosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. tmpte7i6ely_mondo_relaxed.owl NAG activity|alpha-D-2-acetamido-2-deoxyglucosidase activity|N-acetyl-alpha-glucosaminidase activity|alpha-acetylglucosaminidase activity|alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity|N-acetyl-alpha-D-glucosaminidase activity owl:Class UBERON:0004257 biolink:NamedThing upper leg blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009013 biolink:NamedThing convulsive disorder, familial, with prenatal or early onset tmpte7i6ely_mondo_relaxed.owl convulsive disorder, familial, with prenatal or early onset MESH:C565678|UMLS:C1857575|OMIM:217200 owl:Class MONDO:0018093 biolink:NamedThing arbovirus fever Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. tmpte7i6ely_mondo_relaxed.owl arbovirus fever|Arbovirosis Orphanet:344|UMLS:CN227261|GARD:0000432 https://rarediseases.info.nih.gov/diseases/432/arbovirosis owl:Class FOODON:00001911 biolink:NamedThing goat dairy food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022612 biolink:NamedThing Brunsting-Perry syndrome tmpte7i6ely_mondo_relaxed.owl localized cicatricial pemphigoid|cicatricial pemphigoid of the Brunsting-Perry type|Brunsting Perry syndrome EFO:0008611|UMLS:C1304226|GARD:0010454 https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome owl:Class MONDO:0010023 biolink:NamedThing combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. tmpte7i6ely_mondo_relaxed.owl zeta-associated-protein 70 deficiency|ZAP-70 deficiency|selective T-cell defect|severe combined immunodeficiency due to ZAP70 deficiency|STCD|IMD48|immunodeficiency 48 MESH:C536722|OMIM:269840|Orphanet:911|ICD10:D81.8|SCTID:716378008|GARD:0000387 owl:Class MONDO:0060732 biolink:NamedThing tetraamelia syndrome 2 tmpte7i6ely_mondo_relaxed.owl tetraamelia syndrome 2 with pulmonary agenesis|tetraamelia syndrome 2|TETAMS2 OMIM:618021 owl:Class GO:0045640 biolink:NamedThing regulation of basophil differentiation Any process that modulates the frequency, rate or extent of basophil differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011716 biolink:NamedThing acute hemorrhagic leukoencephalitis Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. tmpte7i6ely_mondo_relaxed.owl AHLE|acute hemorrhagic leukoencephalitis|acute hemorrhagic encephalomyelitis|Ahl|acute necrotizing hemorrhagic leukoencephalitis|Weston-Hurst syndrome|AHL|acute haemorrhagic leucoencephalitis of Weston Hurst EFO:0007132|OMIM:606752|GARD:0008629|DOID:10992|SCTID:72986009|ICD9:136.9|NCIT:C84535|MESH:D004684|UMLS:C0014077 https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis owl:Class MONDO:0019383 biolink:NamedThing acute disseminated encephalomyelitis Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. tmpte7i6ely_mondo_relaxed.owl acute disseminated encephalomyelitis|acute disseminated encephalitis|ADE|ADEM ICD9:136.9|SCTID:83942000|MESH:D004673|UMLS:C0014059|Orphanet:83597|GARD:0008639|DOID:639|ICD10:G04.0|NCIT:C34578|EFO:0007130 https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis owl:Class CHEBI:59740 biolink:NamedThing nucleophilic reagent A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. tmpte7i6ely_mondo_relaxed.owl nucleophilic reagents|nucleophiles|nucleophile owl:Class GO:0022834 biolink:NamedThing ligand-gated channel activity Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022836 biolink:NamedThing gated channel activity Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017887 biolink:NamedThing renal cell carcinoma associated with neuroblastoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. tmpte7i6ely_mondo_relaxed.owl renal cell cancer associated with neuroblastoma|renal cell carcinoma associated with neuroblastoma|renal cell carcinoma after neuroblastoma Orphanet:319314|UMLS:C3272295|NCIT:C100051|ICD10:C64 owl:Class CHEBI:37527 biolink:NamedThing acid An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). tmpte7i6ely_mondo_relaxed.owl Saeure|acido|acids|Saeuren|Acid|acid|acide owl:Class MONDO:0013809 biolink:NamedThing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS UMLS:C3281223|OMIM:614575 owl:Class MONDO:0023558 biolink:NamedThing Kocher-debre-Semelaigne syndrome tmpte7i6ely_mondo_relaxed.owl Kocher debre Semelaigne disease|association of muscular pseudohypertrophy and hypothyroidism in children GARD:0008270|MESH:C537211 https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome owl:Class MONDO:0004275 biolink:NamedThing osteosarcoma arising in bone Paget disease A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. tmpte7i6ely_mondo_relaxed.owl osteosarcoma arising in bone Paget's disease|Paget's osteosarcoma|osteosarcoma arising in osseous Paget's disease|osteosarcoma arising in osteitis deformans|osteosarcoma arising in Paget disease of bone|osteosarcoma arising in bone Paget disease|osteosarcoma arising in Paget's disease of bone|Paget osteosarcoma UMLS:C1335148|ICDO:9184/3|DOID:7542|NCIT:C6469 owl:Class MONDO:0002076 biolink:NamedThing pneumothorax Abnormal presence of air in the pleural cavity. tmpte7i6ely_mondo_relaxed.owl pneumothorax (disease)|pneumothorax pneumothorax (disease) HP:0002107|ICD10:J93.1|NCIT:C38006|DOID:1673|ICD9:512.8|MESH:D011030|SCTID:36118008 owl:Class MONDO:0004514 biolink:NamedThing chronic rhinitis Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough. tmpte7i6ely_mondo_relaxed.owl rhinitis, chronic|rhinitis - chronic ICD10:J31.0|UMLS:C0008711|ICD9:472.0|NCIT:C34479|DOID:8252|SCTID:86094006 owl:Class CL:0000936 biolink:NamedThing early lymphoid progenitor A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative. tmpte7i6ely_mondo_relaxed.owl ELP|lymphoid-primed multipotent progenitor|GMLP|LMPP Markers are associated with mouse cells. ELP transcription factors include E2A-positive, Ikaros-positive, EBF-negative, Pax5-negative, PU.1-negative. cell owl:Class GO:0055076 biolink:NamedThing transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:3749 biolink:NamedThing Malus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020591 biolink:NamedThing disorder of peritoneum A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. tmpte7i6ely_mondo_relaxed.owl peritoneal disorder|disorder of peritoneum|peritoneal disease|peritoneum disease or disorder|peritoneum disease|disease of peritoneum|disease or disorder of peritoneum SCTID:66579008|NCIT:C26848|MESH:D010532|UMLS:C0031142 owl:Class MONDO:0018582 biolink:NamedThing GCGR-related hyperglucagonemia tmpte7i6ely_mondo_relaxed.owl Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor|Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor GARD:0010460|ICD10:E16.3|Orphanet:438274|UMLS:CN237611 owl:Class UBERON:0036303 biolink:NamedThing vasculature of central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036302 biolink:NamedThing vasculature of central nervous system plus retina tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001374 biolink:NamedThing ploidy A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010560 biolink:NamedThing cleft palate with or without ankyloglossia, X-linked X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. tmpte7i6ely_mondo_relaxed.owl cleft palate, X-linked|cleft palate with or without ankyloglossia, X-linked|cleft palate X-linked|CPX|X-linked cleft palate|X-linked cleft palate and ankyloglossia ICD10:Q35.9|GARD:0001394|Orphanet:324601|SCTID:766761000|MESH:C536426|DOID:0060613|OMIM:303400 https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked owl:Class MONDO:0003147 biolink:NamedThing space motion sickness Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) tmpte7i6ely_mondo_relaxed.owl Space adaptation syndrome|adaptation syndrome, Space|motion sickness, Space|syndrome, Space adaptation DOID:4796|UMLS:C0242700|EFO:1001188|MESH:D018489 owl:Class MONDO:0002864 biolink:NamedThing anus rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus. tmpte7i6ely_mondo_relaxed.owl anus rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of the anus|anal rhabdomyosarcoma|rhabdomyosarcoma of anus UMLS:C1332276|NCIT:C5610|DOID:4066 owl:Class MONDO:0020685 biolink:NamedThing infratentorial ependymal tumor An ependymal tumor arising from the infratentorial region of the brain. tmpte7i6ely_mondo_relaxed.owl infratentorial ependymal tumor NCIT:C131612 owl:Class UBERON:0004815 biolink:NamedThing lower respiratory tract epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012732 biolink:NamedThing Anorectal anomaly An abnormality of the anus or rectum. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:33225004|UMLS:C3495676|MSH:D000071056 peter 2014-03-23T02:48:00Z human_phenotype owl:Class MONDO:0012289 biolink:NamedThing myofibrillar myopathy 5 Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. tmpte7i6ely_mondo_relaxed.owl filaminopathy|FLNC myofibrillar myopathy (disease)|filaminopathy, autosomal dominant|myofibrillar myopathy type 5|myofibrillar myopathy 5|myopathy, myofibrillar, type 5|myopathy, myofibrillar, 5|muscle filaminopathy|myopathy, myofibrillar, filamin C-related|myofibrillar myopathy (disease) caused by mutation in FLNC|MFM5 Orphanet:171445|DOID:0080096|OMIM:609524|ICD10:G71.8|MESH:C537932 owl:Class MONDO:0016189 biolink:NamedThing qualitative or quantitative defects of filamin C tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of filamin type C Orphanet:209047 owl:Class GO:0003333 biolink:NamedThing amino acid transmembrane transport The process in which an amino acid is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl amino acid membrane transport owl:Class MONDO:0008502 biolink:NamedThing sulfhemoglobinemia, congenital tmpte7i6ely_mondo_relaxed.owl sulfhemoglobinemia, congenital OMIM:185460|MESH:C566102|UMLS:C1861437 owl:Class MONDO:0006988 biolink:NamedThing sulfhemoglobinemia A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) tmpte7i6ely_mondo_relaxed.owl Sulfemoglobinemia UMLS:C0038732|MedDRA:10042481|SCTID:32117000|MESH:D013436|DOID:12451|EFO:1001200 owl:Class MONDO:0044737 biolink:NamedThing autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction tmpte7i6ely_mondo_relaxed.owl autosomal recessive complex SPG due to Kennedy pathway dysfunction Orphanet:506353 owl:Class GO:0046321 biolink:NamedThing positive regulation of fatty acid oxidation Any process that activates or increases the frequency, rate or extent of fatty acid oxidation. tmpte7i6ely_mondo_relaxed.owl up-regulation of fatty acid oxidation|stimulation of fatty acid oxidation|activation of fatty acid oxidation|upregulation of fatty acid oxidation|up regulation of fatty acid oxidation owl:Class MONDO:0007560 biolink:NamedThing reading seizures tmpte7i6ely_mondo_relaxed.owl epilepsy, reading OMIM:132300|UMLS:C0278193|Orphanet:166433|ICD10:G40.8 owl:Class NCBITaxon:4891 biolink:NamedThing Saccharomycetes tmpte7i6ely_mondo_relaxed.owl Hemiascomycetes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147537 biolink:NamedThing Saccharomycotina tmpte7i6ely_mondo_relaxed.owl true yeasts GC_ID:1 ncbi_taxonomy owl:Class GO:2000083 biolink:NamedThing negative regulation of L-ascorbic acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of vitamin C biosynthesis|negative regulation of L-ascorbic acid formation|negative regulation of L-ascorbic acid synthesis|negative regulation of ascorbate biosynthetic process|negative regulation of L-ascorbic acid biosynthesis|negative regulation of ascorbate biosynthesis|negative regulation of L-ascorbic acid anabolism|negative regulation of vitamin C biosynthetic process owl:Class MONDO:0017058 biolink:NamedThing autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. tmpte7i6ely_mondo_relaxed.owl autosomal recessive intermediate Charcot-Marie-Tooth disease|RI-CMT|intermediate Charcot-Marie-Tooth disease, autosomal recessive ICD10:G60.0|UMLS:CN202416|GARD:0012452|Orphanet:268337 https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease owl:Class MONDO:0001230 biolink:NamedThing acute orbital inflammation tmpte7i6ely_mondo_relaxed.owl acute inflammation of orbit DOID:11230|ICD10:H05.0|ICD10:H05.00|SCTID:20551005|ICD9:376.0|ICD9:376.00 owl:Class CL:0000287 biolink:NamedThing eye photoreceptor cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0021527 biolink:NamedThing benign neoplasm of meninges A benign neoplasm that involves the meningeal cluster. tmpte7i6ely_mondo_relaxed.owl benign meningeal tumors|meningeal cluster benign neoplasm|benign meningeal neoplasm|benign meninges tumor|benign neoplasm of the meninges|benign neoplasms of meninges|benign meningeal neoplasms|benign neoplasms of the meninges|benign meninges neoplasm|meningeal tumors, benign|benign tumor of the meninges|benign meningeal tumor|benign tumor of meninges SCTID:109913001|ICD10:D32|UMLS:C0348426|NCIT:C4957 owl:Class MONDO:0016743 biolink:NamedThing tumor of meninges A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. tmpte7i6ely_mondo_relaxed.owl tumor of meninges|meningeal neoplasms|meningeal cluster rare nervous system tumor|meningeal cluster neoplasm|meningeal cluster tumor|neoplasm of meninges|neoplasm of meningeal cluster|neoplasm of the meninges|meningeal cluster neoplasm (disease)|meningeal tumor|tumor of meningeal cluster|meningeal neoplasm|meninges tumor|tumor of the meninges|meninges neoplasm|meningothelial tumor NCIT:C3229|Orphanet:252025|MedDRA:10061282|ICD9:239.7|SCTID:126965008|ONCOTREE:MNGT|UMLS:C0025284 owl:Class GO:0015267 biolink:NamedThing channel activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. tmpte7i6ely_mondo_relaxed.owl nonselective channel activity|channel-forming toxin activity|pore activity|alpha-type channel activity|pore class transporter activity|substrate-specific channel activity|channel/pore class transporter activity owl:Class HGNC:129 biolink:NamedThing ACTA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005694 biolink:NamedThing cecal neoplasm A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpte7i6ely_mondo_relaxed.owl neoplasm of cecum|caecum neoplasm|caecum neoplasm (disease)|tumor of cecum|caecum tumor|tumor of caecum|neoplasm of the cecum|cecum tumor|cecum neoplasm|neoplasm of caecum|tumor of the cecum|cecal benign neoplasm MESH:D002430|EFO:0007197|UMLS:C0007528|NCIT:C4433|DOID:1517|SCTID:126839008 owl:Class MONDO:0007311 biolink:NamedThing Charcot-Marie-Tooth disease type 1E A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease demyelinating type 1E|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot Marie Tooth disease type 1E|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot-Marie-Tooth disease, demyelinating, type 1E|Charcot-Marie-Tooth disease and deafness|Charcot-Marie-Tooth disease-deafness|CMT 1E|Charcot-Marie-Tooth disease-deafness syndrome|CMT1E DOID:0110153|ICD10:G60.0|OMIM:118300|UMLS:C2931686|Orphanet:90658|GARD:0009190|MESH:C537986 owl:Class MONDO:0010130 biolink:NamedThing dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl DPD deficiency|5-fluorouracil toxicity|dihydrouracil dehydrogenase deficiency|dihydropyrimidine dehydrogenase deficiency|familial pyrimidinaemia|hereditary thymine-uraciluria|Dpyd deficiency|familial pyrimidinemia|thymine-Uraciluria, hereditary|pyrimidinemia, familial|DYPD deficiency|thymine-uracilurea ICD9:277.2|ICD10:E79.8|GARD:0000019|SCTID:77365006|UMLS:C1959620|MESH:D054067|NCIT:C84672|MedDRA:10052622|OMIM:274270|Orphanet:1675|DOID:14218 https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency owl:Class MONDO:0009060 biolink:NamedThing cystic disease of lung tmpte7i6ely_mondo_relaxed.owl cystic disease of lung OMIM:219600|UMLS:C1384901|MESH:C563237 owl:Class MONDO:0014785 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 2 Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene. tmpte7i6ely_mondo_relaxed.owl microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2|microcephaly, short stature, and impaired glucose metabolism 2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|PPP1R15B microcephaly, short stature, and impaired glucose metabolism|MSSGM2|microcephaly, short stature, and impaired glucose metabolism type 2 UMLS:C4225195|OMIM:616817 owl:Class MONDO:0021805 biolink:NamedThing acromesomelic dysplasia, Campailla Martinelli type tmpte7i6ely_mondo_relaxed.owl mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type GARD:0000505|UMLS:C2930969|MESH:C535659 https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type owl:Class MONDO:0032566 biolink:NamedThing squalene synthase deficiency tmpte7i6ely_mondo_relaxed.owl Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids|SQSD|SQUALENE SYNTHASE DEFICIENCY OMIM:618156 owl:Class UBERON:0001813 biolink:NamedThing spinal nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013167 biolink:NamedThing parkinson disease 16 tmpte7i6ely_mondo_relaxed.owl Parkinson disease 16|PARK16 UMLS:C2751012|OMIM:613164|MESH:C567726 owl:Class MONDO:0003700 biolink:NamedThing brachial plexus neoplasm A neoplasm (disease) that involves the brachial nerve plexus. tmpte7i6ely_mondo_relaxed.owl neoplasm of brachial plexus|brachial nerve plexus neoplasm (disease)|neoplasm of brachial nerve plexus|brachial plexus tumor|brachial nerve plexus tumor|brachial plexus neoplasm|neoplasm of the brachial plexus|tumor of brachial nerve plexus|brachial nerve plexus neoplasm|brachial plexus neoplasms|tumor of brachial plexus|tumor of the brachial plexus NCIT:C5823|UMLS:C1332602|DOID:5913 owl:Class MONDO:0010173 biolink:NamedThing Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. tmpte7i6ely_mondo_relaxed.owl urogenital adysplasia|MRKH syndrome type 1|Müllerian agenesis|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Mayer-Rokitansky-Küster-Hauser syndrome type 1|Mayer-Rokitansky-KUSTER-Hauser syndrome|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)|congenital absence of the uterus and vagina (CAUV)|Von Mayer-Rokitansky-Kuster anomaly|genital renal ear syndrome|Mrk anomaly|MRKH anomaly|Rokitansky sequence|Rokitansky syndrome|Mullerian aplasia/dysgenesis|MRKH syndrome|congenital absence of uterus and vagina|Mullerian dysgenesis Orphanet:247775|Orphanet:3109|GARD:0007100|ICD9:752.49|ICD10:Q51.8|OMIM:277000|SCTID:8793008 https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia owl:Class GO:0050884 biolink:NamedThing neuromuscular process controlling posture Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. tmpte7i6ely_mondo_relaxed.owl regulation of posture owl:Class CL:0009029 biolink:NamedThing mesothelial cell of appendix A mesothelial cell that is located in a vermiform appendix. tmpte7i6ely_mondo_relaxed.owl mesothelial cell of appendix vermiformis|appendix mesothelial cell|mesothelial cell of vermiform appendix owl:Class MONDO:0019571 biolink:NamedThing autosomal dominant cutis laxa Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. tmpte7i6ely_mondo_relaxed.owl cutis laxa, autosomal dominant|ADCL OMIM:123700|GARD:0001639|MESH:C562627|OMIM:614434|UMLS:C0268350|OMIM:616603|SCTID:111388003|ICD10:Q82.8|DOID:0070142|Orphanet:90348 https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant owl:Class MONDO:0002432 biolink:NamedThing malignant neoplasm of acoustic nerve A malignant neoplasm involving the vestibulocochlear nerve. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the vestibulocochlear nerve|malignant tumor of acoustic nerve|malignant neoplasm of the vestibulocochlear nerve|malignant vestibulocochlear nerve tumor|vestibulocochlear nerve cancer|malignant tumor of vestibulocochlear nerve|malignant eighth cranial nerve neoplasm|malignant neoplasm of the eighth cranial nerve|malignant neoplasm of the acoustic nerve|malignant tumor of acoustic vestibular nerve|cancer of the vestibulocochlear nerve|malignant tumor of the acoustic nerve|malignant eighth cranial nerve tumor|malignant tumor of eighth cranial nerve|malignant acoustic nerve tumor|malignant neoplasm of eighth cranial nerve|malignant vestibulocochlear nerve neoplasm|malignant acoustic nerve neoplasm|malignant neoplasm of vestibulocochlear nerve|malignant tumour of acoustic vestibular nerve|cancer of vestibulocochlear nerve|malignant tumor of the eighth cranial nerve ICD10:C72.4|UMLS:C0346331|SCTID:254980001|NCIT:C4539|DOID:2814 owl:Class MONDO:0001424 biolink:NamedThing sarcoid meningitis Meningitis that arises from sarcoidosis. tmpte7i6ely_mondo_relaxed.owl meningitis in sarcoidosis ICD10:D86.81|ICD9:321.4|UMLS:C0154648|SCTID:192673008|DOID:12055 Editor note: consider obsoleting as represents a finding not a disease owl:Class MONDO:0024891 biolink:NamedThing non-infectious meningitis tmpte7i6ely_mondo_relaxed.owl non-infective meningitis UMLS:C0393442|SCTID:230155003 owl:Class MONDO:0002528 biolink:NamedThing synovium neoplasm A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath. tmpte7i6ely_mondo_relaxed.owl neoplasm of the synovium|synovial membrane of synovial joint neoplasm (disease)|tumor of synovial membrane of synovial joint|synovial neoplasm (morphologic abnormality)|synovial membrane of synovial joint tumor|tumor of the synovium|neoplasm of synovial membrane of synovial joint|synovial membrane of synovial joint neoplasm|tumor of synovium|synovial tumor|synovial neoplasm NOS (morphologic abnormality)|neoplasm of synovium|synovial neoplasm UMLS:C0476203|NCIT:C8964|DOID:315 owl:Class HP:0000745 biolink:NamedThing Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. tmpte7i6ely_mondo_relaxed.owl Lack of initiative|Lack of motivation|Lacking in initiative|Diminished motivation|Lacks initiative UMLS:C0456814|SNOMEDCT_US:277521002 human_phenotype owl:Class HGNC:28086 biolink:NamedThing NDUFAF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018475 biolink:NamedThing PRKAR1B-related neurodegenerative dementia with intermediate filaments tmpte7i6ely_mondo_relaxed.owl UMLS:CN237461|ICD10:G31.8|Orphanet:412066 owl:Class HP:0041051 biolink:NamedThing Ageusia A rare condition that is characterized by a complete loss of taste function of the tongue. tmpte7i6ely_mondo_relaxed.owl Absent sense of taste|Lost taste|Impaired taste sensation http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class MONDO:0015232 biolink:NamedThing radial deficiency-tibial hypoplasia syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:1121|ICD10:Q73.8|UMLS:CN226642 owl:Class MONDO:0006412 biolink:NamedThing sinus histiocytosis with massive lymphadenopathy A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously. tmpte7i6ely_mondo_relaxed.owl Rosai-Dorfman disease|RDD SCTID:34287003|GARD:0007588|MESH:D015618|EFO:1000528|ICD9:277.89|NCIT:C36075 owl:Class MONDO:0002372 biolink:NamedThing ovarian monodermal and highly specialized teratoma A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue. tmpte7i6ely_mondo_relaxed.owl ovarian monodermal and highly specialized teratoma|ovarian germ cell monodermal and highly specialized teratoma UMLS:C0280134|NCIT:C8113|DOID:2641 owl:Class NCIT:C25444 biolink:NamedThing Body Cavity tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C12219 biolink:NamedThing Anatomic Structure, System, or Substance tmpte7i6ely_mondo_relaxed.owl Anatomic Structure, System, or Substance owl:Class MONDO:0002695 biolink:NamedThing sagittal sinus thrombosis Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma. tmpte7i6ely_mondo_relaxed.owl thrombosis of superior sagittal sinus|thrombosis of superior longitudinal sinus MESH:D020225|UMLS:C0338575|DOID:3576|SCTID:192760003 owl:Class UBERON:0003041 biolink:NamedThing trigeminal nerve fibers tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010862 biolink:NamedThing type 1 diabetes mellitus 4 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 4|insulin-dependent diabetes mellitus 4|IDDM4 DOID:0110743|MESH:C563959|ICD10:E10|OMIM:600319|UMLS:C1838261 owl:Class MONDO:0015544 biolink:NamedThing acquired hemophagocytic lymphohistiocytosis associated with malignant disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN199702|Orphanet:158057 owl:Class MONDO:0013758 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate E Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease-nephropathy syndrome|Charcot-Marie-Tooth disease, dominant Intermediate type E|CMTDIE|Charcot-Marie-Tooth disease dominant intermediate type E|autosomal dominant intermediate Charcot-Marie-Tooth disease type E OMIM:614455|SCTID:722294004|ICD10:G60.0|UMLS:C4302667|GARD:0012011|UMLS:C3280845|Orphanet:93114|DOID:0110205 Not in the OMIM series. owl:Class UBERON:0004548 biolink:NamedThing left eye tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008331 biolink:NamedThing clitoral smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16446 biolink:NamedThing CARD14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012274 biolink:NamedThing acromesomelic dysplasia 3 tmpte7i6ely_mondo_relaxed.owl chondrodysplasia, acromesomelic, with or without genital anomalies|AMDD|chondrodysplasia acromesomelic with genital anomalies|acromesomelic dysplasia, Demirhan type OMIM:609441|GARD:0010077|MESH:C537913 https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies owl:Class CL:0002589 biolink:NamedThing smooth muscle cell of the brachiocephalic vasculature A smooth muscle cell of the bachiocephalic vasculature. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:00:58Z cell owl:Class HGNC:4620 biolink:NamedThing GSN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014257 biolink:NamedThing nephrotic syndrome, type 9 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. tmpte7i6ely_mondo_relaxed.owl NPHS9|nephrotic syndrome, type 9|nephrotic syndrome caused by mutation in COQ8B|COQ8B nephrotic syndrome Orphanet:656|OMIM:615573|UMLS:C3809965|DOID:0080391 owl:Class MONDO:0009678 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. tmpte7i6ely_mondo_relaxed.owl congenital muscular dystrophy, Fukuyama type|MDDGA4|FCMD|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related|Fukuyama congenital muscular dystrophy|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|muscle-eye-brain-FKTN related|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4 Orphanet:272|Orphanet:899|DOID:0050559|SCTID:111502003|UMLS:C0410174|Orphanet:588|ICD10:G71.0|OMIM:253800|NCIT:C126741 owl:Class HP:0000964 biolink:NamedThing Eczema Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. tmpte7i6ely_mondo_relaxed.owl Eczema UMLS:C0013595|MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000 Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. HP:0001481 human_phenotype owl:Class HGNC:2678 biolink:NamedThing DARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35552 biolink:NamedThing heterocyclic organic fundamental parent tmpte7i6ely_mondo_relaxed.owl heterocyclic parent hydrides|heterocyclic fundamental parent|organic heterocyclic fundamental parents|heterocyclic organic fundamental parents owl:Class NCBITaxon:186626 biolink:NamedThing Otophysi tmpte7i6ely_mondo_relaxed.owl Otophysa GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007106 biolink:NamedThing anal sphincter dysplasia tmpte7i6ely_mondo_relaxed.owl anal sphincter dysplasia|ASDP UMLS:C1862936|GARD:0009822|MESH:C538254|OMIM:105563 https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia owl:Class MONDO:0044721 biolink:NamedThing severe combined immunodeficiency due to LAT deficiency tmpte7i6ely_mondo_relaxed.owl immunodeficiency 52|SCID due to LAT deficiency|IMD52 Orphanet:504523|UMLS:C4479588|OMIM:617514 owl:Class MONDO:0004198 biolink:NamedThing testicular yolk sac tumor, solid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl testicular yolk sac tumor, solid pattern|solid pattern testicular yolk sac tumor UMLS:C1515312|NCIT:C39925|DOID:7360 owl:Class UBERON:0012377 biolink:NamedThing muscle layer of jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015712 biolink:NamedThing hexose phosphate transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044748 biolink:NamedThing anaplasmosis in cattle A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. tmpte7i6ely_mondo_relaxed.owl Anaplasmoses MESH:D000712 owl:Class MONDO:0020425 biolink:NamedThing abnormal number of coronary ostia tmpte7i6ely_mondo_relaxed.owl Orphanet:99089|ICD10:Q24.5 owl:Class MONDO:0003539 biolink:NamedThing T-cell adult acute lymphocytic leukemia An acute T-lymphoblastic leukemia occurring in adults. tmpte7i6ely_mondo_relaxed.owl T-cell adult ALL|adult precursor T-lymphoblastic leukemia|T cell adult acute lymphocytic leukemia|T Acute Lymphoblastic Leukemia|adult acute lymphoblastic leukemia of T cell|T cell adult ALL|acute Adult T-cell Leukemia-lymphoma|T cell adult acute lymphoblastic leukemia|adult T-cell acute lymphoblastic leukemia|adult precursor T lymphoblastic leukemia|adult T acute lymphoblastic leukemia DOID:5602|EFO:1001936|NCIT:C9142|UMLS:C0279592 owl:Class MONDO:0014181 biolink:NamedThing amyotrophic lateral sclerosis type 20 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene. tmpte7i6ely_mondo_relaxed.owl ALS20|amyotrophic lateral sclerosis caused by mutation in HNRNPA1|HNRNPA1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 20|amyotrophic lateral sclerosis type 20 Orphanet:803|OMIM:615426|UMLS:C3715156|DOID:0060211 owl:Class MONDO:0019567 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 1 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type I|EDS I|Ehlers-Danlos syndrome, type 1|EDSCL1|Ehlers-Danlos syndrome, classic type, 1|type I Ehlers-Danlos syndrome OMIM:130000|DOID:14720|SCTID:83470009|MESH:C536194|UMLS:C0268335|NCIT:C125696|Orphanet:90309|ICD10:Q79.6 owl:Class MONDO:0021478 biolink:NamedThing benign neoplasm of nasopharynx A benign neoplasm that involves the nasopharynx. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the nasopharynx|nasopharynx benign neoplasm|benign nasopharyngeal neoplasm|benign nasopharyngeal tumor|benign tumor of the nasopharynx|benign tumor of nasopharynx|nasopharyngeal neoplasm, benign UMLS:C0153938|ICD10:D10.6|NCIT:C3595|ICD9:210.7|SCTID:188800003 owl:Class HGNC:28769 biolink:NamedThing DRAM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011131 biolink:NamedThing tricho-oculo-dermo-vertebral syndrome tmpte7i6ely_mondo_relaxed.owl Trichooculodermovertebral syndrome|Alves-dos Santos-Castelo syndrome|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|Todv syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|Alves syndrome|arthrogryposis and ectodermal dysplasia Orphanet:3354|OMIM:601701|GARD:0001553|MESH:C537441 owl:Class GO:0002822 biolink:NamedThing regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008530 biolink:NamedThing teeth, odd shapes of tmpte7i6ely_mondo_relaxed.owl conical teeth, multiple|teeth, odd shapes of|Lobodontia MESH:C566076|UMLS:C1861274|OMIM:187000 owl:Class CHEBI:35366 biolink:NamedThing fatty acid Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. tmpte7i6ely_mondo_relaxed.owl acides gras|Fatty acid|Fettsaeure|fatty acids|acide gras|Fettsaeuren|acido graso|acidos grasos owl:Class MONDO:0032721 biolink:NamedThing spondyloepiphyseal dysplasia, kondo-fu type tmpte7i6ely_mondo_relaxed.owl SEDKF|Sed With Elevated Blood Lysosomal Enzymes|SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE OMIM:618392 owl:Class MONDO:0019387 biolink:NamedThing macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.0|Orphanet:83619|UMLS:CN206081 owl:Class MONDO:0600003 biolink:NamedThing bacterial hemorrhagic fever A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus. tmpte7i6ely_mondo_relaxed.owl haemorrhagic fever, bacterial|bacterial haemorrhagic fever owl:Class MONDO:0600002 biolink:NamedThing hemorrhagic fever An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness. tmpte7i6ely_mondo_relaxed.owl haemorrhagic fever NCIT:C36169 http://orcid.org/0000-0002-5460-8025 owl:Class CHEBI:83812 biolink:NamedThing non-proteinogenic amino acid derivative Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom. tmpte7i6ely_mondo_relaxed.owl non-proteinogenic amino-acid derivatives|non-canonical amino-acid derivatives|non-canonical amino acid derivative owl:Class CL:0019018 biolink:NamedThing blood vessel smooth muscle cell A smooth muscle cell that is part of any blood vessel. tmpte7i6ely_mondo_relaxed.owl smooth muscle cell of blood vessel 2020-07-21 12:42:48+00:00 owl:Class MONDO:0016878 biolink:NamedThing partial deletion of chromosome 16 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 16|partial deletion of chromosome type 16 Orphanet:261826|ICD10:Q93.5 owl:Class MONDO:0008313 biolink:NamedThing pelvic organ prolapse, susceptibility to tmpte7i6ely_mondo_relaxed.owl prolapse of vagina and rectum|rectal prolapse|vaginal prolapse|pelvic organ prolapse, susceptibility to|pelvic organ prolapse, susceptibility to, 1 OMIM:176780 owl:Class HP:0001438 biolink:NamedThing Abnormal abdomen morphology A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. tmpte7i6ely_mondo_relaxed.owl Abnormality of the abdomen|Abnormality of abdomen structure|Abnormality of abdomen morphology|Abdomen abnormality UMLS:C4020869 human_phenotype owl:Class MONDO:0016123 biolink:NamedThing muscular tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:206982 Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. owl:Class MONDO:0003419 biolink:NamedThing Bartholin gland adenoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells. tmpte7i6ely_mondo_relaxed.owl major vestibular gland adenoma|Bartholin gland adenoma|Bartholin's gland adenoma DOID:5382|NCIT:C40299|UMLS:C1511048 owl:Class MONDO:0018639 biolink:NamedThing caudal regression-sirenomelia spectrum Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. tmpte7i6ely_mondo_relaxed.owl Orphanet:444941 owl:Class HGNC:8885 biolink:NamedThing PGA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030088 biolink:NamedThing diabetes mellitus, permanent neonatal 3 tmpte7i6ely_mondo_relaxed.owl DIABETES MELLITUS, PERMANENT NEONATAL 3|PNDM3|diabetes mellitus, permanent neonatal 3|Developmental Delay, Epilepsy, and Neonatal Diabetes 2 OMIM:618857 owl:Class HGNC:9713 biolink:NamedThing PEX19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004510 biolink:NamedThing inflammatory liposarcoma A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates. tmpte7i6ely_mondo_relaxed.owl inflammatory liposarcoma DOID:8233|UMLS:C1370890|NCIT:C6508 owl:Class MONDO:0011795 biolink:NamedThing anonychia-microcephaly syndrome Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. tmpte7i6ely_mondo_relaxed.owl anonychia, total, with microcephaly|total anonychia with microcephaly|anonychia total with microcephaly|total anonychia congenita and microcephaly|Teebi-Kaurah syndrome GARD:0000709|SCTID:720494009|Orphanet:1094|ICD10:Q87.8|OMIM:607214 https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly owl:Class MONDO:0003197 biolink:NamedThing granular cell carcinoma An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm. tmpte7i6ely_mondo_relaxed.owl granular cell adenocarcinoma|granular cell carcinoma|granular cell carcinoma (morphologic abnormality) DOID:4903|ICDO:8320/3|NCIT:C3681|UMLS:C0205644|MESH:D000230 owl:Class MONDO:0020154 biolink:NamedThing microblepharon-ablephara syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q10.3|Orphanet:98563|UMLS:CN237783 owl:Class HGNC:11588 biolink:NamedThing TBP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003721 biolink:NamedThing kidney osteogenic sarcoma An osteosarcoma arising from the kidney. tmpte7i6ely_mondo_relaxed.owl renal osteogenic sarcoma|renal extraskeletal osteosarcoma|renal osteosarcoma|kidney osteogenic sarcoma|osteogenic sarcoma of kidney|kidney extraskeletal osteosarcoma|kidney osteosarcoma|kidney osteosarcoma (disease)|osteosarcoma of kidney|osteogenic sarcoma of the kidney|osteosarcoma of the kidney DOID:5983|UMLS:C1335747|NCIT:C6181 owl:Class UBERON:0009670 biolink:NamedThing rectal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000450 biolink:NamedThing secondary progressive multiple sclerosis A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase. tmpte7i6ely_mondo_relaxed.owl SPMS|secondary-progressive MS EFO:0008522|SCTID:425500002|MESH:D020528|DOID:0050783|UMLS:C0751965 owl:Class MONDO:0008230 biolink:NamedThing peroxidase, salivary tmpte7i6ely_mondo_relaxed.owl SAPX|peroxidase, salivary OMIM:170990 owl:Class MONDO:0001553 biolink:NamedThing phacolytic glaucoma An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens. tmpte7i6ely_mondo_relaxed.owl endophthalmitis phacoanaphylactica SCTID:32893002|DOID:12570|UMLS:C0152137|ICD9:365.51 owl:Class MONDO:0001554 biolink:NamedThing phacogenic glaucoma Secondary glaucoma caused by either excessive size or spheric shape of the lens. tmpte7i6ely_mondo_relaxed.owl lens induced angle closure glaucoma|lens swelling glaucoma|phacomorphic glaucoma UMLS:C0339590|ICD9:365.59|SCTID:392300000|DOID:12571 owl:Class MONDO:0004035 biolink:NamedThing glomangiomatosis A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. tmpte7i6ely_mondo_relaxed.owl DOID:6906|NCIT:C27496|UMLS:C1333824 owl:Class MONDO:0014548 biolink:NamedThing long QT syndrome 14 Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene. tmpte7i6ely_mondo_relaxed.owl CALM1 long QT syndrome|long QT syndrome 14|LQT14|long QT syndrome type 14|long QT syndrome caused by mutation in CALM1 OMIM:616247|UMLS:C4015671|Orphanet:101016|ICD10:I45.8|Orphanet:768|DOID:0110655 owl:Class MONDO:0007093 biolink:NamedThing hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, type 4|amelogenesis imperfecta type 4|amelogenesis imperfecta caused by mutation in DLX3|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, type IV|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|AI4|AIHHT Orphanet:100034|DOID:0110053|OMIM:104510|ICD10:K00.5|MESH:C566293|UMLS:C1863012 owl:Class GO:0070469 biolink:NamedThing respirasome The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpte7i6ely_mondo_relaxed.owl membrane electron transport chain|respiratory chain owl:Class GO:1905505 biolink:NamedThing positive regulation of motile cilium assembly Any process that activates or increases the frequency, rate or extent of motile cilium assembly. tmpte7i6ely_mondo_relaxed.owl activation of nodal cilium assembly|up-regulation of motile primary cilium assembly|up regulation of motile primary cilia assembly|up regulation of motile primary cilium assembly|activation of motile primary cilia formation|up-regulation of motile primary cilium formation|up regulation of motile primary cilia formation|up-regulation of nodal cilium assembly|activation of motile primary cilia assembly|up regulation of nodal cilium formation|upregulation of motile primary cilium assembly|up-regulation of nodal cilium formation|up-regulation of motile primary cilia assembly|positive regulation of nodal cilium formation|positive regulation of motile primary cilium assembly|upregulation of nodal cilium assembly|positive regulation of nodal cilium assembly|up regulation of nodal cilium assembly|positive regulation of motile primary cilia assembly|upregulation of motile primary cilium formation|activation of nodal cilium formation|positive regulation of motile primary cilium formation|up-regulation of motile primary cilia formation|up regulation of motile primary cilium formation|upregulation of motile primary cilia assembly|activation of motile primary cilium formation|upregulation of nodal cilium formation|upregulation of motile primary cilia formation|positive regulation of motile primary cilia formation|activation of motile primary cilium assembly owl:Class GO:0045722 biolink:NamedThing positive regulation of gluconeogenesis Any process that activates or increases the frequency, rate or extent of gluconeogenesis. tmpte7i6ely_mondo_relaxed.owl stimulation of gluconeogenesis|up regulation of gluconeogenesis|activation of gluconeogenesis|upregulation of gluconeogenesis|up-regulation of gluconeogenesis owl:Class MONDO:0019570 biolink:NamedThing Cockayne syndrome type 2 Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. tmpte7i6ely_mondo_relaxed.owl Cockayne syndrome type 2|Cockayne syndrome B|Cockayne syndrome type II|Cockayne syndrome type B|CSB Orphanet:90321|Orphanet:90324|Orphanet:191|GARD:0001420|OMIM:133540|ICD10:Q87.8|OMIM:216400|Orphanet:90322|UMLS:C0751038|NCIT:C135726 owl:Class MONDO:0010540 biolink:NamedThing bullous dystrophy, macular type Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. tmpte7i6ely_mondo_relaxed.owl bullous dystrophy, hereditary macular type|bullous dystrophy hereditary macular type|EBM|epidermolysis bullosa macular type|epidermolysis bullosa, macular type Orphanet:1867|OMIM:302000|MESH:C563065|ICD10:Q81.8|UMLS:C0795974|GARD:0001038 https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type owl:Class UBERON:0018150 biolink:NamedThing skin of lower lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016437 biolink:NamedThing late-onset focal dermal elastosis Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. tmpte7i6ely_mondo_relaxed.owl PXE-like late-onset focal dermal elastosis|pseudoxanthoma-like late-onset focal dermal elastosis Orphanet:228227 owl:Class GO:0007568 biolink:NamedThing aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). tmpte7i6ely_mondo_relaxed.owl ageing owl:Class MONDO:0019260 biolink:NamedThing adult neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. tmpte7i6ely_mondo_relaxed.owl adult NCL|neuronal ceroid lipofuscinosis of adults|adult neuronal ceroid lipofuscinosis|CLN4 disease, adult autosomal dominant|neuronal ceroid lipofuscinosis 4|Kufs disease|Kuf's disease|ANCL OMIM:615362|GARD:0010973|OMIM:601780|OMIM:614706|OMIM:204300|OMIM:162350|SCTID:62009002|Orphanet:79262|ICD10:E75.4|UMLS:C0022797|UMLS:CN205864|OMIM:610127|OMIM:256730 https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis owl:Class GO:0006743 biolink:NamedThing ubiquinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpte7i6ely_mondo_relaxed.owl coenzyme Q metabolic process|coenzyme Q metabolism|ubiquinone metabolism owl:Class UBERON:0008843 biolink:NamedThing gubernaculum testis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016366 biolink:NamedThing maternal phenylketonuria Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. tmpte7i6ely_mondo_relaxed.owl maternal PKU|hyperphenylalaninemic embryopathy|phenylketonuric embryopathy|maternal hyperphenylalaninemia Orphanet:2209|OMIM:261600|ICD10:E70.1|GARD:0003413 owl:Class UBERON:0004946 biolink:NamedThing submucosa of ileum tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010988 biolink:NamedThing Abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023611 The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. peter 2011-02-08T01:59:22Z human_phenotype owl:Class HP:0003256 biolink:NamedThing Abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. tmpte7i6ely_mondo_relaxed.owl Coagulopathy SNOMEDCT_US:362970003|UMLS:C0005779|SNOMEDCT_US:64779008|MSH:D001778 HP:0001925 human_phenotype owl:Class MONDO:0013932 biolink:NamedThing peroxisome biogenesis disorder 5A (Zellweger) tmpte7i6ely_mondo_relaxed.owl PBD5A|peroxisome biogenesis disorder, complementation group 5|peroxisome biogenesis disorder, complementation group 10|peroxisome biogenesis disorder, complementation group F|peroxisome biogenesis disorder 5A (Zellweger) UMLS:C3553940|OMIM:614866|DOID:0080480|NCIT:C155756 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100260 biolink:NamedThing peroxisome biogenesis disorder due to PEX2 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene. tmpte7i6ely_mondo_relaxed.owl PEX2 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX2 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class PO:0009013 biolink:NamedThing portion of meristem tissue A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth. tmpte7i6ely_mondo_relaxed.owl meristema (Spanish, exact)|meristematic tissue (exact)|meristem (exact)|分裂組織 (Japanese, exact) PO_GIT:472 plant_anatomy owl:Class MONDO:0054741 biolink:NamedThing combined oxidative phosphorylation deficiency 34 tmpte7i6ely_mondo_relaxed.owl COXPD34|combined oxidative phosphorylation deficiency 34 OMIM:617872|DOID:0111497 owl:Class UBERON:0008424 biolink:NamedThing inguinal mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000672 biolink:NamedThing form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. tmpte7i6ely_mondo_relaxed.owl DOID:0060142 owl:Class MONDO:0041879 biolink:NamedThing staphylococcus aureus pneumonia An pneumonia caused by infection with Staphylococcus aureus. tmpte7i6ely_mondo_relaxed.owl pneumonia due to staphylococcus aureus|Staphylococcus aureus caused pneumonia|Staphylococcus aureus pneumonia|pneumonia caused by staphylococcus aureus|staphylococcus aureus pneumonia SCTID:441658007 owl:Class MONDO:0005970 biolink:NamedThing staphylococcal pneumonia Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. tmpte7i6ely_mondo_relaxed.owl Staphylococcus pneumonia|Staphylococcus caused pneumonia ICD9:482.49|ICD9:482.4|ICD9:482.40|MESH:D011023|EFO:0007496|SCTID:22754005 owl:Class MONDO:0006913 biolink:NamedThing pneumococcal meningitis An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) tmpte7i6ely_mondo_relaxed.owl Streptococcus pneumoniae infectious meningitis|Streptococcus pneumoniae caused infectious meningitis Orphanet:55655|ICD10:G00.1|MedDRA:10027253|MESH:D008586|UMLS:C0025295|EFO:1001114|ICD9:320.1|MedDRA:10035645|SCTID:51169003 owl:Class MONDO:0007495 biolink:NamedThing dystonia 5 Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. tmpte7i6ely_mondo_relaxed.owl DRD|DYT5a|GTPCH1-deficient DRD|HPD with marked diurnal fluctuation|dystonia, progressive, with diurnal variation|autosomal dominant Segawa syndrome|GTPCH1-deficient dopa-responsive dystonia|hereditary progressive dystonia with marked diurnal fluctuation|GTP cyclohydrolase 1-deficient dopa-responsive dystonia|dystonia, DOPA-responsive|Dopa-responsive dystonia; Segawa syndrome AD|Dopa-responsive dystonia, autosomal dominant|dystonia type 5|dystonia-Parkinsonism with diurnal fluctuation|autosomal dominant dopa-responsive dystonia|DYT-GCH1|Segawa syndrome, autosomal dominant|dystonia 5|dystonia, Dopa-responsive, autosomal dominant ICD10:G24.1|UMLS:CN207122|UMLS:C1851920|SCTID:715768000|DOID:0090043|GARD:0012144|Orphanet:98808|OMIM:128230 owl:Class MONDO:0009526 biolink:NamedThing fibular aplasia, tibial campomelia, and oligosyndactyly syndrome tmpte7i6ely_mondo_relaxed.owl fibular aplasia, tibial campomelia, and oligosyndactyly syndrome|fibular aplasia-tibial campomelia-oligosyndactyly syndrome|terminal transverse defects of the limbs associated with congenital heart malformations|FATCO syndrome|limb deficiency-heart malformation syndrome OMIM:246570|GARD:0002622|UMLS:C1855499|Orphanet:480773|UMLS:CN776928 owl:Class HP:0000163 biolink:NamedThing Abnormal oral cavity morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. tmpte7i6ely_mondo_relaxed.owl Abnormality of the oral cavity UMLS:C4025887 human_phenotype owl:Class HP:0031816 biolink:NamedThing Abnormal oral morphology Any structural anomaly of the mouth, which is also known as the oral cavity. tmpte7i6ely_mondo_relaxed.owl 2018-04-29 14:55:47+00:00 peter human_phenotype owl:Class UBERON:0007385 biolink:NamedThing pectoral appendage lymph vessel tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4922 biolink:NamedThing HK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004715 biolink:NamedThing liver carcinoma in situ A carcinoma in situ involving a liver. tmpte7i6ely_mondo_relaxed.owl carcinoma in situ of liver, gallbladder and bile ducts|stage 0 liver carcinoma|carcinoma in situ of liver|carcinoma in situ of liver and biliary system|liver in situ carcinoma DOID:9132|UMLS:C0345908|ICD9:230.8|SCTID:92644006|ICD10:D01.5 owl:Class MONDO:0030361 biolink:NamedThing Aicardi-Goutieres syndrome 8 tmpte7i6ely_mondo_relaxed.owl AGS8|Aicardi-Goutieres syndrome 8 OMIM:619486 owl:Class UBERON:0034996 biolink:NamedThing outer renal medulla loop of Henle tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000739 biolink:NamedThing habitat An environmental system which can sustain and allow the growth of an ecological population. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071692 biolink:NamedThing protein localization to extracellular region Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. tmpte7i6ely_mondo_relaxed.owl protein localisation in extracellular region|protein localization in extracellular region owl:Class HGNC:18374 biolink:NamedThing HPSE2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006835 biolink:NamedThing dicarboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl sodium:dicarboxylate transport owl:Class HGNC:8941 biolink:NamedThing SERPINA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010742 biolink:NamedThing pentalogy of Cantrell Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. tmpte7i6ely_mondo_relaxed.owl thoraco-abdominal syndrome|Cantrell deformity|pentalogy of Cantrell|Cantrell pentalogy|Cantrell Haller Ravitsch syndrome|THAS|thoracoabdominal syndrome|Tas|Midline defects, X-linked|Cantrell syndrome MESH:D058502|GARD:0007359|UMLS:C0559483|NCIT:C99011|ICD10:Q89.7|ICD9:759.89|Orphanet:1335|SCTID:281587000|OMIM:313850 https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell owl:Class CHEBI:35724 biolink:NamedThing carbohydrate sulfate tmpte7i6ely_mondo_relaxed.owl carbohydrate sulfates|carbohydrate sulphates owl:Class CHEBI:26819 biolink:NamedThing sulfuric ester An ester of an alcohol and sulfuric acid. tmpte7i6ely_mondo_relaxed.owl sulfuric acid ester|sulfate ester|sulfuric acid esters owl:Class MONDO:0021092 biolink:NamedThing fallopian tube neoplasm A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. tmpte7i6ely_mondo_relaxed.owl fallopian tube neoplasm (disease)|tumor of the fallopian tube|neoplasm of the fallopian tube|fallopian tube neoplasm|neoplasm of fallopian tube|fallopian tube tumor|tumor of fallopian tube NCIT:C3032|SCTID:126916003|UMLS:C0015558|ICD9:239.5 owl:Class MONDO:0007399 biolink:NamedThing TWIST1-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. tmpte7i6ely_mondo_relaxed.owl CRS1|craniostenosis|TWIST1-related craniosynostosis|CRS|craniosynostosis 1|craniosynostosis type 1 SCTID:57219006|Orphanet:35099|Orphanet:63440|UMLS:C0010278|OMIM:123100|Orphanet:35093|UMLS:CN029978 https://github.com/monarch-initiative/mondo/issues/2659 owl:Class MONDO:0012591 biolink:NamedThing osteogenesis imperfecta type 5 Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI). tmpte7i6ely_mondo_relaxed.owl OI with calcification in interosseous membranes|type V OI|OI type V|OI type 5|OI5|IFITM5 osteogenesis imperfecta|osteogenesis imperfecta type V|osteogenesis imperfecta caused by mutation in IFITM5|OI, type 5|osteogenesis imperfecta, type 5|osteogenesis imperfecta, type V ICD10:Q78.0|UMLS:C1970414|OMIM:610967|GARD:0008699|MESH:C567042|DOID:0110344|Orphanet:216828 owl:Class MONDO:0018932 biolink:NamedThing cirrhotic cardiomyopathy Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. tmpte7i6ely_mondo_relaxed.owl Orphanet:57777|ICD10:I42.8|UMLS:C4511053|SCTID:725416005 owl:Class CHEBI:59814 biolink:NamedThing L-alpha-amino acid anion Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpte7i6ely_mondo_relaxed.owl L-alpha-amino carboxylate owl:Class HGNC:713 biolink:NamedThing ARSA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013018 biolink:NamedThing keratosis follicularis spinulosa decalvans, autosomal dominant tmpte7i6ely_mondo_relaxed.owl keratosis follicularis SPINULOSA decalvans, autosomal dominant|keratosis follicularis spinulosa decalvans, autosomal dominant|KFSD Orphanet:2340|UMLS:C2748527|MESH:C567553|OMIM:612843 owl:Class MONDO:0000136 biolink:NamedThing keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. tmpte7i6ely_mondo_relaxed.owl keratosis pilaris decalvans SCTID:238626006|OMIM:612843|ICD9:757.39|ICD10:Q82.8|Orphanet:2340|OMIM:308800|MESH:C536159|GARD:0006829|OMIM:604093 owl:Class MONDO:0018330 biolink:NamedThing mucinous adenocarcinoma of the appendix Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present. tmpte7i6ely_mondo_relaxed.owl appendiceal mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma|appendix mucinous adenocarcinoma UMLS:C1706832|ICD10:C18.1|ONCOTREE:MAAP|NCIT:C43558|Orphanet:391723 owl:Class MONDO:0006087 biolink:NamedThing appendix adenocarcinoma A carcinoma that arises from glandular epithelial cells of the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl appendix adenocarcinoma|appendiceal adenocarcinoma|adenocarcinoma of appendix|APAD|vermiform appendix adenocarcinoma|adenocarcinoma of the appendix SCTID:413445002|DOID:3608|NCIT:C7718|UMLS:C0238003|ONCOTREE:APAD|GARD:0010564|EFO:1000088 owl:Class MONDO:0021126 biolink:NamedThing syndromic or isolated An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009222 biolink:NamedThing Gollop-Wolfgang complex Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur. tmpte7i6ely_mondo_relaxed.owl Gollop-Wolfgang complex|femur, unilateral bifid, with monodactylous ectrodactyly|femur bifid with monodactylous ectrodactyly|GWC|bifid femur-monodactylous ectrodactyly syndrome SCTID:716006003|UMLS:C1856789|Orphanet:1986|GARD:0002285|ICD10:Q74.8|MESH:C537917|OMIM:228250 owl:Class MONDO:0010750 biolink:NamedThing ulnar hypoplasia-split foot syndrome Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. tmpte7i6ely_mondo_relaxed.owl ulnar hypoplasia lobster claw deformity of feet|Van De Berghe Dequeker syndrome|ulnar hypoplasia-lobster-claw deformity of feet syndrome|familial ulnar aplasia and lobster claw syndrome|complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|Van den Berghe-Dequecker syndrome|severe ulnar aplasia and lobster claw feet|ulnar hypoplasia with lobster-claw deformity of feet ICD10:Q73.8|OMIM:314360|GARD:0005400|Orphanet:1122|MESH:C536936|UMLS:C1839123 owl:Class UBERON:0010213 biolink:NamedThing laryngeal pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045616 biolink:NamedThing regulation of keratinocyte differentiation Any process that modulates the frequency, rate or extent of keratinocyte differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018684 biolink:NamedThing idiopathic neonatal atrial flutter Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops. tmpte7i6ely_mondo_relaxed.owl neonatal cardiac dysrhythmia UMLS:CN205105|Orphanet:45452|SCTID:715560009|ICD10:P29.1 owl:Class MONDO:0013576 biolink:NamedThing recurrent infections associated with rare immunoglobulin isotypes deficiency Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. tmpte7i6ely_mondo_relaxed.owl kappa chain deficiency|kappa-chain deficiency|IgG subclass deficiency with IgA subclass deficiency|IGKCD|selective IgG subclass deficiency|isolated IgG subclass deficiency|IMMUNOGLOBULIN kappa LIGHT chain deficiency|recurrent infections associated with rare immunoglobulin isotypes deficiency Orphanet:183675|OMIM:614102|MESH:C564131|UMLS:C3279824 owl:Class MONDO:0032916 biolink:NamedThing Imagawa-Matsumoto syndrome tmpte7i6ely_mondo_relaxed.owl IMAGAWA-MATSUMOTO SYNDROME|IMMAS OMIM:618786 owl:Class UBERON:0004401 biolink:NamedThing bone tissue of distal epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015169 biolink:NamedThing chronic diarrhea due to glucoamylase deficiency This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. tmpte7i6ely_mondo_relaxed.owl chronic diarrhea due to glucoamylase deficiency|maltase glucoamylase deficiency|maltase-glucoamylase deficiency SCTID:716277000|UMLS:C4275068|ICD10:E74.3|Orphanet:103907 owl:Class NCBITaxon:2157 biolink:NamedThing Archaea tmpte7i6ely_mondo_relaxed.owl Monera|Procaryotae|Metabacteria|archaea|Mendosicutes|Archaebacteria|Prokaryotae|prokaryote|Prokaryota|prokaryotes PMID:11321113|PMID:10939673|PMID:10490293|GC_ID:11|PMID:2112744|PMID:11760965|PMID:10939651|PMID:11542064|PMID:9336922|PMID:11542149|PMID:8123559|PMID:11540071|PMID:10843050|PMID:270744|PMID:10425796|PMID:10425795|PMID:8590690|PMID:11411719|PMID:9103655|PMID:10939677|PMID:11211268|PMID:25527841|PMID:10425797|PMID:11541975|PMID:12054223|PMID:11321083 ncbi_taxonomy owl:Class MONDO:0043475 biolink:NamedThing Adams-Stokes syndrome An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. tmpte7i6ely_mondo_relaxed.owl Stokes Adams syndrome|Adam Stokes attacks|Adam-Stokes attacks|syndrome, Stokes-Adams|syndrome, Adams-Stokes|Stokes-Adams attacks|Stokes-Adams-morgagni syndrome|Stokes Adams attacks|Adams Stokes syndrome|Stokes-Adams syndrome|attacks, Stokes-Adams|attacks, Adam-Stokes SCTID:46935006|UMLS:C0001396|EFO:1001259|NCIT:C79765|MESH:D000219 owl:Class UBERON:0013510 biolink:NamedThing lumbar vertebra pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008245 biolink:NamedThing piebald trait-neurologic defects syndrome Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. tmpte7i6ely_mondo_relaxed.owl piebald trait with neurologic defects|White forelock and leukoderma with neurological impairment|piebald trait neurologic defects|telfer-Sugar-Jaeger syndrome|telfer Sugar Jaeger syndrome MESH:C536955|OMIM:172850|GARD:0005133|UMLS:C1868311|Orphanet:2885 owl:Class CL:0000637 biolink:NamedThing chromophil cell of anterior pituitary gland A cell that stains readily in the anterior pituitary gland. tmpte7i6ely_mondo_relaxed.owl FMA:83089 cell owl:Class MONDO:0002281 biolink:NamedThing macrocytic anemia Anemia that is characterized by increased red blood cell volume. tmpte7i6ely_mondo_relaxed.owl macrocytic anaemia|macrocytic anemia (disease)|macrocytic anemia|macrocytic anaemia of unspecified cause|D22S676|macrocytic Anemia|anemia macrocytic|D22S750 macrocytic anemia (disease) DOID:2361|UMLS:C0002886|MESH:D000748|NCIT:C34381|HP:0001972|SCTID:83414005 owl:Class CL:1000405 biolink:NamedThing epithelial cell of appendix An epithelial cell that is part of the appendix. tmpte7i6ely_mondo_relaxed.owl epithelial cell of vermiform appendix|columnar epitheliocyte of appendix FMA:63602 cell owl:Class MONDO:0008097 biolink:NamedThing linear nevus sebaceous syndrome Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). tmpte7i6ely_mondo_relaxed.owl Nevus sebaceus syndrome|sebaceous Nevus syndrome, linear|Jadassohn nevus phakomatosis|Nevus sebaceous of Jadassohn|Nevus sebaceus of Jadassohn|Schimmelpenning Feuerstein Mims syndrome|organoid Nevus|organoid Nevus phakomatosis|organoid nevus syndrome|organoid nevus phakomatosis|linear sebaceous Nevus|SFM|SFM syndrome|Sfm syndrome|Epidermal Nevus syndrome, formerly|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|Solomon syndrome|sebaceous nevus syndrome linear|linear sebaceous Nevus syndrome|epidermal nevus syndrome|JNP|Schimmelpenning syndrome|Jadassohn Nevus phakomatosis Orphanet:2612|GARD:0010291|DOID:0111530|NCIT:C4678|ICD10:Q85.8|OMIM:163200 https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome owl:Class HGNC:685 biolink:NamedThing ARHGEF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017618 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch intolerance tmpte7i6ely_mondo_relaxed.owl congenital sucrose intolerance with starch intolerance|congenital sucrase-isomaltose malabsorption with starch intolerance|disaccharide intolerance with starch intolerance|CSID with starch intolerance Orphanet:306436|ICD10:E74.3 owl:Class NCBITaxon:1824 biolink:NamedThing Nocardia asteroides tmpte7i6ely_mondo_relaxed.owl Actinomyces eppinger|Actinomyces asteroides|Cladothrix asteroides|Asteroides asteroides|Proactinomyces asteroides|Streptotrix asteroides|Streptothrix eppingerii|Actinomyces eppingeri|Discomyces asteroides|Oospora asteroides GC_ID:11 ncbi_taxonomy owl:Class CL:1000486 biolink:NamedThing basal cell of urothelium A basal cell that is part of the urothelium. tmpte7i6ely_mondo_relaxed.owl FMA:84150 cell owl:Class MONDO:0012009 biolink:NamedThing coronary heart disease, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl coronary heart disease, susceptibility to, 2|Chds2|coronary heart disease, susceptibility to, type 2 UMLS:C1842260|OMIM:608316 owl:Class MONDO:0020580 biolink:NamedThing germinomatous germ cell tumor A term that refers to germinoma, seminoma, or dysgerminoma. tmpte7i6ely_mondo_relaxed.owl germinomatous germ cell tumor NCIT:C121618|UMLS:C4054897 owl:Class MONDO:0007973 biolink:NamedThing mental and growth retardation with amblyopia tmpte7i6ely_mondo_relaxed.owl mental and growth retardation with amblyopia MESH:C563591|UMLS:C1835028|OMIM:156190 owl:Class HGNC:12592 biolink:NamedThing UROS tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043217 biolink:NamedThing myelin maintenance The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009911 biolink:NamedThing prolactin deficiency, isolated tmpte7i6ely_mondo_relaxed.owl prolactin deficiency, isolated OMIM:264110|SCTID:67873006|ICD9:253.4|MESH:C562708 owl:Class MONDO:0011400 biolink:NamedThing dilated cardiomyopathy 1G Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. tmpte7i6ely_mondo_relaxed.owl TTN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1G|CMD1G|familial isolated dilated cardiomyopathy caused by mutation in TTN|dilated cardiomyopathy type 1G|cardiomyopathy, dilated, 1G MESH:C565824|DOID:0110430|OMIM:604145|ICD10:I42.0|UMLS:C1858763 owl:Class GO:0010186 biolink:NamedThing positive regulation of cellular defense response Any process that activates or increases the frequency, rate or extent of cellular defense response. tmpte7i6ely_mondo_relaxed.owl up-regulation of cellular defense response|stimulation of cellular defense response|positive regulation of cellular defence response|upregulation of cellular defense response|up regulation of cellular defense response|activation of cellular defense response owl:Class MONDO:0005182 biolink:NamedThing serous cystadenofibroma A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well. tmpte7i6ely_mondo_relaxed.owl EFO:0002510|DOID:7320 owl:Class MONDO:0032598 biolink:NamedThing developmental and epileptic encephalopathy, 68 tmpte7i6ely_mondo_relaxed.owl EIEE68|DEE68|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68|epileptic encephalopathy, early infantile, 68 OMIM:618201 owl:Class MONDO:0010785 biolink:NamedThing maternally-inherited diabetes and deafness Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, type II, with deafness|diabetes and deafness, maternally inherited|diabetes-deafness syndrome, maternally Transmitted|Ballinger Wallace syndrome|diabetes mellitus type II with deafness|Niddm with deafness|mitochondrial diabetes|MIDD|maternally inherited diabetes and deafness|noninsulin-dependent diabetes mellitus with deafness|Ballinger-Wallace syndrome SCTID:237619009|Orphanet:225|GARD:0004003|UMLS:C4330695|NCIT:C131859|MESH:C536246|UMLS:C0342289|ICD10:E13.8|ICD9:250.80|OMIM:520000 https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness owl:Class PATO:0001297 biolink:NamedThing reflectivity A radiation reflective quality inhering in a bearer by virtue of the ratio of the energy of a wave reflected from its surface to the energy possessed by the wave striking the bearer's surface. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35191 biolink:NamedThing triterpene A C30 terpene. tmpte7i6ely_mondo_relaxed.owl triterpeno|triterpenes|Triterpen|triterpenos owl:Class NCBITaxon:6032 biolink:NamedThing Apansporoblastina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0025033 biolink:NamedThing Abnormality of digestive system morphology A structural anomaly of the digestive system. tmpte7i6ely_mondo_relaxed.owl 2016-08-27 13:58:23+00:00 HPO:probinson human_phenotype owl:Class UBERON:0009758 biolink:NamedThing abdominal ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000208 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 1 tmpte7i6ely_mondo_relaxed.owl microcephaly, short stature, and impaired glucose metabolism|MSSGM|microcephaly, short stature, and impaired glucose metabolism 1|MSSGM1 OMIM:616033|UMLS:C4014997 owl:Class MONDO:0006540 biolink:NamedThing dyshidrosis A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl DYSHYDROTIC eczema|dyshidrosis|pompholyx|cheiropompholyx|vesicular eczema of hands and/or feet EFO:1000688|SCTID:402567004|Wikipedia:Dyshidrosis|MESH:D011146|ICD9:692.9|ICD9:705.81|UMLS:C0032633|DOID:9230 owl:Class MONDO:0006615 biolink:NamedThing sweat gland disorder A disease involving the sweat gland. tmpte7i6ely_mondo_relaxed.owl sweat gland disease or disorder|disease of sweat gland|disease or disorder of sweat gland|disorder of sweat gland|sweat gland disease|disorder of sweat glands|disease of sweat glands EFO:1000772|ICD10:L74.9|SCTID:88232005|UMLS:C0038986|MESH:D013543|ICD10:L74|ICD9:705.89|DOID:1383|ICD9:705.9|ICD9:705 owl:Class CL:0000775 biolink:NamedThing neutrophil Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. tmpte7i6ely_mondo_relaxed.owl polymorphonuclear neutrophil|neutrophilic leukocyte|neutrocyte|polymorphonuclear leucocyte|polymorphonuclear leukocyte|neutrophilic leucocyte|poly|polynuclear neutrophilic leucocyte|polynuclear neutrophilic leukocyte|neutrophil leukocyte|PMN|neutrophil leucocyte CALOHA:TS-0688|BTO:0000130|FMA:62860 cell owl:Class MONDO:0012611 biolink:NamedThing polyhydramnios, megalencephaly, and symptomatic epilepsy tmpte7i6ely_mondo_relaxed.owl PMSE syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy|polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome|PMSE|pretzel syndrome|polyhydramnios-megalencephaly-symptomatic epilepsy syndrome GARD:0012913|OMIM:611087|MESH:C567020|Orphanet:500533|UMLS:C1970203 owl:Class MONDO:0006234 biolink:NamedThing grade III prostatic intraepithelial neoplasia High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities. tmpte7i6ely_mondo_relaxed.owl prostate gland carcinoma in situ|adenocarcinoma in situ of prostate|pin III|grade 3 pin|prostate carcinoma in situ|grade III pin|adenocarcinoma in situ of the prostate|carcinoma in situ of prostate gland|grade 3 prostatic intraepithelial neoplasia|prostate adenocarcinoma in situ|carcinoma in situ of prostate|prostate gland in situ carcinoma|stage 0 prostate gland carcinoma UMLS:C0154088|EFO:1000283|SCTID:92691004|ICD9:233.4|DOID:8634|ICD10:D07.5|NCIT:C3642 owl:Class MONDO:0013693 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 1 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. tmpte7i6ely_mondo_relaxed.owl inflammatory skin and bowel disease, neonatal, 1|inflammatory skin and bowel disease, neonatal, type 1|NISBD1|neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|ADAM17 neonatal inflammatory skin and bowel disease OMIM:614328|Orphanet:294023|UMLS:C3280501 owl:Class GO:1903054 biolink:NamedThing negative regulation of extracellular matrix organization Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. tmpte7i6ely_mondo_relaxed.owl down-regulation of extracellular matrix organization|negative regulation of extracellular matrix organisation|inhibition of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|down regulation of extracellular matrix organization|negative regulation of extracellular matrix organization and biogenesis|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organisation|down-regulation of extracellular matrix organisation|down-regulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organisation|inhibition of extracellular matrix organization owl:Class SO:0000233 biolink:NamedThing mature_transcript A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified. tmpte7i6ely_mondo_relaxed.owl mature transcript owl:Class SO:0000673 biolink:NamedThing transcript An RNA synthesized on a DNA or RNA template by an RNA polymerase. tmpte7i6ely_mondo_relaxed.owl INSDC_feature:misc_RNA owl:Class MONDO:0003786 biolink:NamedThing childhood testicular choriocarcinoma A choriocarcinoma that arises from the testis during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric choriocarcinoma of the testis|choriocarcinoma of testis of childhood|childhood choriocarcinoma of testis|pediatric choriocarcinoma of testis|pediatric testicular choriocarcinoma|childhood testicular choriocarcinoma|childhood choriocarcinoma of the testis UMLS:C1333006|NCIT:C6544|DOID:6160 owl:Class MONDO:0004512 biolink:NamedThing meningeal melanomatosis A meningeal melanoma with secondary diffuse meningeal spread. (WHO) tmpte7i6ely_mondo_relaxed.owl meningeal cluster melanomatosis|melanomatosis of meningeal cluster|leptomeningeal melanomatosis|meningeal melanomatosis (morphologic abnormality)|meningeal melanomatosis ICDO:8728/3|NCIT:C6891|DOID:8243|UMLS:C1266114 owl:Class MONDO:0016747 biolink:NamedThing primary melanoma of the central nervous system A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl melanoma (disease) of central nervous system|primary CNS melanoma|melanoma of the Central nervous system|malignant melanoma of meninges|CNS melanoma|primary melanoma of the CNS|central nervous system melanoma (disease)|melanoma of the CNS|melanoma of central nervous system|Central nervous system melanoma|primary meningeal melanoma|melanoma of CNS|central nervous system melanoma UMLS:C0349626|ONCOTREE:PCNSM|UMLS:CN201994|Orphanet:252050|GARD:0012016|NCIT:C5505 https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system owl:Class MONDO:0023041 biolink:NamedThing ectodermal dysplasia Berlin type tmpte7i6ely_mondo_relaxed.owl GARD:0002044 https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type owl:Class HP:0007370 biolink:NamedThing Aplasia/Hypoplasia of the corpus callosum Absence or underdevelopment of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl Absent/hypoplastic corpus callosum|Hypoplasia or absence of the corpus callosum|Hypoplastic or absent corpus callosum|Agenesis/hypoplastic corpus callosum|Complete or partial absence of the corpus callosum UMLS:C1861866 peter 2008-04-01T10:35:00Z HP:0007060|HP:0007061|HP:0007137|HP:0007003 human_phenotype owl:Class HP:0033725 biolink:NamedThing Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). tmpte7i6ely_mondo_relaxed.owl Thinning of the corpus callosum|Small corpus callosum 2021-04-07 16:39:13+00:00 peter human_phenotype owl:Class MONDO:0004819 biolink:NamedThing indolent plasma cell myeloma tmpte7i6ely_mondo_relaxed.owl indolent myeloma|indolent plasma cell myeloma|indolent multiple myeloma SCTID:441313008|UMLS:C2049069|NCIT:C7150|DOID:9550 owl:Class MONDO:0005235 biolink:NamedThing smoldering plasma cell myeloma A plasma cell myeloma lacking clinical manifestations and organ impairment. tmpte7i6ely_mondo_relaxed.owl smoldering Multiple myeloma/plasma cell myeloma|asymptomatic myeloma|smoldering plasma cell myeloma|smoldering multiple myeloma|asymptomatic plasma cell myeloma|smoldering myeloma EFO:0003073|DOID:9551|SCTID:440422002|NCIT:C7149 owl:Class MONDO:0045008 biolink:NamedThing cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of cholesterol metabolism|cholesterol metabolism disease|cholesterol metabolic process disease|disorder of cholesterol metabolic process UMLS:C0342877|SCTID:123963007 Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) owl:Class UBERON:0005853 biolink:NamedThing sacral spinal cord ventral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030027 biolink:NamedThing tremor, hereditary essential, 6 tmpte7i6ely_mondo_relaxed.owl tremor, hereditary essential, 6|TREMOR, HEREDITARY ESSENTIAL, 6|ETM6 OMIM:618866 owl:Class MONDO:0002786 biolink:NamedThing diencephalic cancer A cancer involving a diencephalon. tmpte7i6ely_mondo_relaxed.owl malignant diencephalic neoplasms|malignant diencephalic tumor|cancer of diencephalon|tumor of diencephalon|malignant neoplasm of diencephalon|malignant diencephalic neoplasm|diencephalon cancer|diencephalic neoplasm|malignant diencephalon neoplasm DOID:3843|NCIT:C5126|UMLS:C1334576 owl:Class MONDO:0006498 biolink:NamedThing adenomatous colon polyp A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous. tmpte7i6ely_mondo_relaxed.owl adenomatous polyp of the colon|colon adenomatous polyp|colonic adenomatous polyp|adenomatous polyp of colon SCTID:428054006|HP:0005227|NCIT:C96479|EFO:1000633 owl:Class MONDO:0003056 biolink:NamedThing lymphoplasmacyte-rich meningioma A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells. tmpte7i6ely_mondo_relaxed.owl lymphoplasmocyte-rich meningioma (morphologic abnormality)|lymphoplasmacyte-rich meningioma|lymphoplasmocyte-rich meningioma EFO:1000342|UMLS:C0431119|DOID:4591|NCIT:C4720 owl:Class NCBITaxon:506 biolink:NamedThing Alcaligenaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:12370 biolink:NamedThing CEP41 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020860 biolink:NamedThing faucial diphtheria Infection of the fauces by Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl Diphtheritic membranous angina|diphtheritic membranous angina|diphtheritic membrane|Faucial diphtheria|Diphtheritic membrane|faucial diphtheria|Faucial Diphtheria NCIT:C34545|UMLS:C0012556|SCTID:3419005|ICD9:032.0 owl:Class MONDO:0008477 biolink:NamedThing spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. tmpte7i6ely_mondo_relaxed.owl Jequier-Kozlowski syndrome|SmD, Kozlowski type|Dysmorphism arthrogryposis skeletal maturation advanced|SmD Kozlowski type|spondylometaphyseal dysplasia, Kozlowski type|skeletal dysplasia Jequier-Kozlowski type|SMDK|Jequier Kozlowski skeletal dysplasia ICD10:Q77.8|Orphanet:93314|DOID:0111554|OMIM:184252|MESH:C535797|GARD:0003047 https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type owl:Class MONDO:0001773 biolink:NamedThing post-vaccinal encephalitis An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) tmpte7i6ely_mondo_relaxed.owl postvaccinal encephalomyelitis|encephalitis following immunization procedures SCTID:31367003|DOID:13664|ICD10:G04.02|UMLS:C0751101|ICD9:323.51 owl:Class MONDO:0032572 biolink:NamedThing cardiac, facial, and digital anomalies with developmental delay tmpte7i6ely_mondo_relaxed.owl CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY|CAFDADD OMIM:618164 owl:Class HGNC:24160 biolink:NamedThing BEAN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006878 biolink:NamedThing Moraxellaceae infectious disease Infections with bacteria of the family moraxellaceae. tmpte7i6ely_mondo_relaxed.owl infections, Psychobacter|infections, Moraxella|Psychobacter infections|Moraxella infections|Moraxella infection|Psychobacter infection|Moraxellaceae disease or disorder|infections, Moraxellaceae|infection, Psychobacter|Moraxellaceae infection|infection, Moraxella|Moraxellaceae caused disease or disorder|infection, Moraxellaceae EFO:1001072|MESH:D045828 owl:Class HGNC:4115 biolink:NamedThing GALC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012143 biolink:NamedThing hereditary cryohydrocytosis with reduced stomatin tmpte7i6ely_mondo_relaxed.owl stomatin-deficient cryohydrocytosis with neurologic defects|cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|SDCHCN|stomatin-deficient cryohydrocytosis|sdCHC|cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|ChC type 2 Orphanet:168577|ICD10:D58.8|MESH:C563840|UMLS:C1837206|OMIM:608885 owl:Class HGNC:23168 biolink:NamedThing FANCM tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1990731 biolink:NamedThing UV-damage excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA immediately 5' of a UV-induced damage site, and is the first part of a DNA repair process that acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). tmpte7i6ely_mondo_relaxed.owl alternative excision repair, DNA incision|UV-damaged DNA endonuclease-dependent excision repair, DNA incision|DNA incision involved in UV-damaged DNA endonuclease-dependent excision repair|DNA incision involved in alternative excision repair|DNA incision involved in UVDE-dependent excision repair|DNA incision involved in UV-damage excision repair|DNA incision involved in UVER|DNA incision involved in AER|UVDE-dependent excision repair, DNA incision|nucleic acid cleavage involved in UV-damage excision repair owl:Class GO:0090305 biolink:NamedThing nucleic acid phosphodiester bond hydrolysis The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis. tmpte7i6ely_mondo_relaxed.owl nucleic acid cleavage owl:Class HGNC:1069 biolink:NamedThing BMP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017730 biolink:NamedThing metachromatic leukodystrophy, adult form tmpte7i6ely_mondo_relaxed.owl MLD, adult form|arylsulfatase A deficiency, adult form Orphanet:309271|ICD10:E75.2 owl:Class MONDO:0009591 biolink:NamedThing metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. tmpte7i6ely_mondo_relaxed.owl ARSA deficiency|pseudoarylsulfatase A deficiency|sulfatide lipidosis|metachromatic leukodystrophy|Mld|MLD, juvenile form|leukodystrophy metachromatic|metachromatic leukoencephalopathy|cerebral sclerosis diffuse metachromatic form|cerebral sclerosis, diffuse, metachromatic form|arylsulfatase A deficiency, juvenile form|metachromatic leukodystrophy, juvenile|cerebroside sulfatase deficiency|metachromatic leukodystrophy, late infantile|metachromatic leukodystrophy, adult|metachromatic leukodystrophy, juvenile form|arylsulfatase A deficiency|MLD Orphanet:309263|OMIM:250100|SCTID:238031009|Orphanet:512|GARD:0004545|ICD10:E75.2|UMLS:C0023522|GARD:0003230 owl:Class UBERON:0001319 biolink:NamedThing vaginal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015779 biolink:NamedThing 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. tmpte7i6ely_mondo_relaxed.owl Mixed gonadal dysgenesis|45,X0/46,XY MGD|45,X/46,XY disorder of Sex development|45,X/46,XY gonadal dysgenesis|XY/X0|45,X/46,XY MGD|45,X0/46,XY mixed gonadal dysgenesis Orphanet:1772|NCIT:C120199|ICD10:Q98.7|DOID:0080656 owl:Class MONDO:0001920 biolink:NamedThing chronic purulent otitis media Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. tmpte7i6ely_mondo_relaxed.owl CSOM|chronic suppurative otitis Media|suppurative otitis media, chronic|chronic suppurative otitis media ICD10:H66.3|ICD9:382.3|NCIT:C128386|UMLS:C0271454|SCTID:38394007|DOID:14247 owl:Class MONDO:0017221 biolink:NamedThing Pelizaeus-Merzbacher disease, connatal form The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD. tmpte7i6ely_mondo_relaxed.owl severe PMD|Pelizaeus-Merzbacher disease type II|connatal PMD ICD10:E75.2|UMLS:CN202703|Orphanet:280210 owl:Class MONDO:0018685 biolink:NamedThing incessant infant ventricular tachycardia Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure. tmpte7i6ely_mondo_relaxed.owl SCTID:233908008|ICD10:I47.2|UMLS:C0340487|Orphanet:45453 owl:Class HGNC:812 biolink:NamedThing ATP2A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014261 biolink:NamedThing growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 18|combined oxidative phosphorylation deficiency caused by mutation in SFXN4|COXPD18|combined oxidative phosphorylation deficiency type 18|SFXN4 combined oxidative phosphorylation deficiency Orphanet:391348|ICD10:E88.8|DOID:0111484|OMIM:615578|UMLS:C3810001 owl:Class MONDO:0004997 biolink:NamedThing chondroblastoma A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. tmpte7i6ely_mondo_relaxed.owl chondroblastoma (disease)|CHBL|chondroblastoma of bone|chondroblastoma chondroblastoma (disease) UMLS:C0008441|ICDO:9230/0|MESH:D002804|EFO:0000331|HP:0030432|GARD:0006047|ONCOTREE:CHBL|NCIT:C2945|DOID:2649 owl:Class HGNC:10298 biolink:NamedThing RPL10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008021 biolink:NamedThing Cowden syndrome 1 Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. tmpte7i6ely_mondo_relaxed.owl Cowden syndrome 1|CS|Cowden syndrome type 1|cerebelloparenchymal disorder 6|dysplastic gangliocytoma of the cerebellum|CWS1|Cowden disease caused by mutation in PTEN|PTEN Cowden disease|Lhermitte-Duclos disease|cerebellar granule cell Hypertrophy and megalencephaly|multiple hamartoma syndrome|Proteus-like syndrome UMLS:CN072330|Orphanet:65285|Orphanet:2969|UMLS:C0018553|Orphanet:201|OMIM:158350 owl:Class MONDO:0013172 biolink:NamedThing polymicrogyria with optic nerve hypoplasia A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. tmpte7i6ely_mondo_relaxed.owl polymicrogyria with optic nerve hypoplasia|cortical dysplasia, complex, with other brain malformations 8|CDCBM8|cortical dysplasia, Complex, with Other brain malformations 8 OMIM:613180|UMLS:C2750798|MESH:C567715|Orphanet:250972 owl:Class GO:1900005 biolink:NamedThing positive regulation of serine-type endopeptidase activity Any process that activates or increases the frequency, rate or extent of serine-type endopeptidase activity. tmpte7i6ely_mondo_relaxed.owl positive regulation of blood coagulation factor activity|up regulation of serine-type endopeptidase activity|up regulation of blood coagulation factor activity owl:Class NCBITaxon:555864 biolink:NamedThing unclassified Bornaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044640 biolink:NamedThing charcot-marie-tooth disease type 2T tmpte7i6ely_mondo_relaxed.owl autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|CMT2T|AR-CMT2T Orphanet:495274|UMLS:CN237675|OMIM:617017 owl:Class MONDO:0016378 biolink:NamedThing maternal hyperthermia induced birth defects Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. tmpte7i6ely_mondo_relaxed.owl hyperthermia induced defects Orphanet:2216|SCTID:765138001|GARD:0002856|ICD10:Q86.8|UMLS:C0265377 https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects owl:Class MONDO:0032764 biolink:NamedThing Khan-Khan-Katsanis syndrome tmpte7i6ely_mondo_relaxed.owl 3KS|KHAN-KHAN-KATSANIS SYNDROME|3K Syndrome OMIM:618460 owl:Class MONDO:0040925 biolink:NamedThing latent yaws tmpte7i6ely_mondo_relaxed.owl latent yaws SCTID:186973005|UMLS:C0153240 owl:Class MONDO:0014708 biolink:NamedThing ring chromosome 14 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. tmpte7i6ely_mondo_relaxed.owl Ring 14|RING chromosome 14 syndrome|chromosome 14 ring|Ring chromosome type 14 UMLS:CN233170|GARD:0006072|ICD10:Q93.2|Orphanet:1440|ICD9:758.89|OMIM:616606|MESH:C535487|SCTID:702345009 https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14 owl:Class MONDO:0032738 biolink:NamedThing gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy tmpte7i6ely_mondo_relaxed.owl GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY|GDRM OMIM:618419 owl:Class MONDO:0004557 biolink:NamedThing congenital fibrosarcoma A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. tmpte7i6ely_mondo_relaxed.owl infantile fibrosarcoma (morphologic abnormality)|IFS|congenital fibrosarcoma|infantile fibrosarcoma|infantile fibrosarcoma (congenital fibrosarcoma) ICDO:8814/3|UMLS:C0334459|SCTID:403996004|ONCOTREE:IFS|NCIT:C4244|DOID:8418|ICD9:171.9 owl:Class MONDO:0006157 biolink:NamedThing colorectal adenosquamous carcinoma An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpte7i6ely_mondo_relaxed.owl colorectal adenosquamous cancer|colorectal (colon or rectal) adenosquamous cancer|colorectum adenosquamous carcinoma|colorectal adenosquamous carcinoma EFO:1000190|UMLS:C1707437|NCIT:C43589 owl:Class UBERON:0026386 biolink:NamedThing lumbar spinal cord white matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024327 biolink:NamedThing chronic renal failure syndrome Impairment of the renal function due to chronic kidney damage. tmpte7i6ely_mondo_relaxed.owl chronic kidney failure|kidney failure, chronic|chronic renal failure|Chronic renal disease|chronic renal failure disease|CRF - chronic renal failure MESH:D051436|NCIT:C9438|ICD9:585.9|UMLS:C0022661|SCTID:90688005 owl:Class MONDO:0018361 biolink:NamedThing neonatal scleroderma tmpte7i6ely_mondo_relaxed.owl ICD10:P83.8|Orphanet:398127 owl:Class MONDO:0004320 biolink:NamedThing adult infiltrating astrocytic neoplasm tmpte7i6ely_mondo_relaxed.owl adult infiltrating astrocytic tumor|adult infiltrating astrocytic neoplasm|adult infiltrating astrocytoma NCIT:C8289|UMLS:C0281329|DOID:7656 owl:Class MONDO:0002503 biolink:NamedThing adult astrocytic tumour An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma. tmpte7i6ely_mondo_relaxed.owl adult astrocytic tumor|astrocytic tumor|adult astrocytoma|adult astrocytic neoplasm DOID:3076|UMLS:C1332183|NCIT:C7049 owl:Class HP:0003808 biolink:NamedThing Abnormal muscle tone tmpte7i6ely_mondo_relaxed.owl Abnormal muscle tone UMLS:C0852413 human_phenotype owl:Class MONDO:0009570 biolink:NamedThing McDonough syndrome A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. tmpte7i6ely_mondo_relaxed.owl mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|McDonough syndrome MESH:C538158|SCTID:715441004|GARD:0003424|ICD10:Q87.8|Orphanet:2471|UMLS:C0796038|OMIM:248950 https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome owl:Class ENVO:01000340 biolink:NamedThing alpine An altitudinal condition which inheres in a bearer by virtue of the bearer having a monthly mean temperature is less than 10 degrees Celsius and being located at altitudes above the tree line and below the snowline. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000343 biolink:NamedThing altitudinal condition An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004508 biolink:NamedThing skeletal muscle tissue of levator palpebrae superioris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003269 biolink:NamedThing skeletal muscle tissue of eye tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004299 biolink:NamedThing infiltrating bladder lymphoepithelioma-like carcinoma tmpte7i6ely_mondo_relaxed.owl infiltrating bladder lymphoepithelioma-like carcinoma DOID:7600|EFO:1000302|NCIT:C39821|UMLS:C1512736 owl:Class MONDO:0003572 biolink:NamedThing nasopharyngeal type undifferentiated carcinoma A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. tmpte7i6ely_mondo_relaxed.owl lymphoepithelioma|Schmincke tumor|lymphoepithelial carcinoma|nasopharyngeal type undifferentiated carcinoma|lymphoepithelioma-like carcinoma|Schminke tumor DOID:5660|UMLS:C0334254|ICDO:8082/3|NCIT:C4107 owl:Class MONDO:0020077 biolink:NamedThing myelodysplastic/myeloproliferative disease Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. tmpte7i6ely_mondo_relaxed.owl Orphanet:98275|GARD:0009351|MESH:D054437 owl:Class MONDO:0012906 biolink:NamedThing primary ciliary dyskinesia 9 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia type 9|ciliary dyskinesia, primary, 9|DNAI2 primary ciliary dyskinesia|primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9, with or without situs inversus|primary ciliary dyskinesia 9|CILD9|primary ciliary dyskinesia caused by mutation in DNAI2|ciliary dyskinesia, primary, type 9 ICD10:Q34.8|DOID:0110622|UMLS:C2676235|OMIM:612444|MESH:C567310 owl:Class MONDO:0022772 biolink:NamedThing classic Kaposi sarcoma A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation. tmpte7i6ely_mondo_relaxed.owl Kaposi's sarcoma, classical type|classic Kaposi's sarcoma|classic Kaposi sarcoma|Kaposi sarcoma, classic|Kaposi sarcoma classical type NCIT:C9112|UMLS:C0279084 owl:Class MONDO:0021320 biolink:NamedThing malignant tumor of floor of mouth A cancer that involves the mouth floor. tmpte7i6ely_mondo_relaxed.owl malignant mouth floor neoplasm|malignant neoplasm of mouth floor|malignant floor of the mouth tumor|malignant floor of mouth neoplasm|malignant neoplasm of the floor of the mouth|malignant floor of mouth tumor|malignant neoplasm of floor of mouth|mouth floor cancer|cancer of mouth floor|malignant tumor of the floor of the mouth|malignant floor of the mouth neoplasm NCIT:C9318|ICD9:144.9|SCTID:363385007|ICD9:144.8 owl:Class NCBITaxon:1781 biolink:NamedThing Mycobacterium marinum tmpte7i6ely_mondo_relaxed.owl Mycobacterium balnei|Mycobacterium platypoecilus GC_ID:11|PMID:12089250 ncbi_taxonomy owl:Class MONDO:0004469 biolink:NamedThing pseudovascular skin squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl pseudovascular skin squamous cell carcinoma|skin pseudovascular squamous cell carcinoma DOID:8122|UMLS:C1335974|NCIT:C27542 owl:Class MONDO:0006840 biolink:NamedThing lymphangiectasis Dilatation of the lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl lymphangiectasia EFO:1001025|MESH:D008200|UMLS:C0024214|GARD:0006933|NCIT:C97087 https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis owl:Class CHEBI:16733 biolink:NamedThing D-alpha-amino acid tmpte7i6ely_mondo_relaxed.owl D-alpha-amino acids|D-Amino acid|D-alpha-amino acid owl:Class MONDO:0700029 biolink:NamedThing partial duplication of chromosome 13 tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007028 biolink:NamedThing rotator cuff syndrome Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder. tmpte7i6ely_mondo_relaxed.owl rotator cuff tear ICD10:M75.1|UMLS:C0263912|SCTID:4106009|ICD9:726.10|EFO:1001250|https://en.wikipedia.org/wiki/Rotator_cuff_tear owl:Class MONDO:0008449 biolink:NamedThing spina bifida A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. tmpte7i6ely_mondo_relaxed.owl spinal myelocele|rachischisis|NTD|spinal meningocele|neural tube defects, susceptibility to|spinal myelomeningocele|spina bifida (disease)|spina bifida spina bifida (disease) SCTID:67531005|Orphanet:268357|HP:0002414|EFO:0003105|Orphanet:823|MESH:D016135|DOID:0080016|NCIT:C101214|ICD9:741 owl:Class MONDO:0016277 biolink:NamedThing malignant mixed epithelial and mesenchymal tumor of cervix uteri tmpte7i6ely_mondo_relaxed.owl cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri Orphanet:213782|ICD10:C53.0|ICD10:C53.1|UMLS:CN201067|ICD10:C53.8 owl:Class NCBITaxon:135624 biolink:NamedThing Aeromonadales tmpte7i6ely_mondo_relaxed.owl Aeromonadaceae/Succinivibrionaceae group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class MONDO:0004596 biolink:NamedThing cor pulmonale Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. tmpte7i6ely_mondo_relaxed.owl pulmonary heart diseases|heart disease, pulmonary|diseases, pulmonary heart|pulmonary heart disease|cardiopulmonary disease|heart diseases, pulmonary|disease, pulmonary heart|cor pulmonale MESH:D011660|UMLS:C0034072|ICD10:I27.81|DOID:8515|ICD10:I27.9|SCTID:274096000 owl:Class CHEBI:33693 biolink:NamedThing oxygen hydride tmpte7i6ely_mondo_relaxed.owl oxygen hydride|hydrides of oxygen|oxygen hydrides owl:Class MONDO:0017068 biolink:NamedThing upper thoracic spina bifida aperta tmpte7i6ely_mondo_relaxed.owl UMLS:CN202428|Orphanet:268740 owl:Class MONDO:0019841 biolink:NamedThing pituitary hormone defiency from vascular origin tmpte7i6ely_mondo_relaxed.owl Orphanet:95611|ICD10:E23.0 owl:Class MONDO:0012279 biolink:NamedThing congenital muscular dystrophy merosin-positive The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, merosin-POSITIVE OMIM:609456|GARD:0003855|UMLS:C1836133|MESH:C563716|DOID:0110638 https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive owl:Class MONDO:0011536 biolink:NamedThing optic atrophy 4 tmpte7i6ely_mondo_relaxed.owl optic atrophy 4|OPA4 DOID:0111440|UMLS:C1854430|MESH:C565343|Orphanet:98673|OMIM:605293 owl:Class MONDO:0020790 biolink:NamedThing gaze palsy, familial horizontal, with progressive scoliosis 1 tmpte7i6ely_mondo_relaxed.owl Ophthalmoplegia, Progressive External, and Scoliosis|gaze palsy, familial horizontal, with progressive scoliosis 1|HGPPS|HGPPS1 OMIM:607313 owl:Class MONDO:0011810 biolink:NamedThing horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. tmpte7i6ely_mondo_relaxed.owl ophthalmoplegia, progressive external, and scoliosis|gaze palsy, horizontal, with progressive scoliosis|progressive external ophthalmoplegia and scoliosis|gaze palsy, familial horizontal, with progressive scoliosis|HGPPS MESH:C564593|GARD:0012682|ICD10:H49.4|Orphanet:2744|ICD9:737.43|OMIMPS:607313|UMLS:C1846496|SCTID:702381007 https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis owl:Class NCBITaxon:5073 biolink:NamedThing Penicillium tmpte7i6ely_mondo_relaxed.owl Eupenicillium GC_ID:1 NCBITaxon:28577 ncbi_taxonomy owl:Class MONDO:0004378 biolink:NamedThing pediatric cerebral ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children. tmpte7i6ely_mondo_relaxed.owl childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered|childhood cerebral ependymoblastoma UMLS:C1332962|NCIT:C6957|DOID:7841 owl:Class MONDO:0024568 biolink:NamedThing infantile liver failure syndrome 1 Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene. tmpte7i6ely_mondo_relaxed.owl LARS infantile liver failure|infantile liver failure syndrome 1|ILFS1|infantile liver failure syndrome type 1|infantile liver failure caused by mutation in Lars|Lars infantile liver failure|acute infantile liver failure - multisystemic involvement syndrome|infantile liver failure caused by mutation in LARS ICD10:K72.0|OMIM:615438|UMLS:C3809522|GARD:0013114|Orphanet:370088 MONDO:0014188 owl:Class MONDO:0017784 biolink:NamedThing Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis. tmpte7i6ely_mondo_relaxed.owl EBVaGC|EBV-associated gastric carcinoma UMLS:CN203734|SCTID:716586009|ICD10:C16.2|Orphanet:313920|ICD10:C16.0 owl:Class MONDO:0017344 biolink:NamedThing Epstein-Barr virus-associated carcinoma tmpte7i6ely_mondo_relaxed.owl EBV-associated carcinoma Orphanet:289651 owl:Class HGNC:1838 biolink:NamedThing CECR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008048 biolink:NamedThing autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpte7i6ely_mondo_relaxed.owl myopathy, centronuclear, autosomal dominant|autosomal dominant centronuclear myopathy|myopathy, centronuclear, 1|CNM1|AD-CNM|myopathy, centronuclear, type 1|DNM2-related centronuclear myopathy|myotubular myopathy, autosomal dominant|centronuclear myopathy, autosomal dominant|centronuclear myopathy 1 SCTID:716696006|OMIM:160150|NCIT:C126689|DOID:0111217|GARD:0012719|OMIM:614408|ICD10:G71.2|UMLS:C1834558|Orphanet:169189 https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy owl:Class MONDO:0018600 biolink:NamedThing congenital abducens nerve palsy tmpte7i6ely_mondo_relaxed.owl benign congenital sixth cranial nerve palsy|congenital CNVI palsy ICD10:Q07.8|Orphanet:440233 owl:Class MONDO:0019888 biolink:NamedThing distal trisomy 20q Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. tmpte7i6ely_mondo_relaxed.owl distal trisomy type 20q|distal duplication 20q|telomeric duplication 20q|trisomy 20qter SCTID:764500002|Orphanet:96107|ICD10:Q92.3 owl:Class MONDO:0003062 biolink:NamedThing intestinal benign neoplasm A benign neoplasm that involves the intestine. tmpte7i6ely_mondo_relaxed.owl benign intestine neoplasm|benign neoplasms of large and/or small intestine|benign intestinal neoplasms|benign neoplasm of the intestines|benign intestine tumor|benign intestinal neoplasm|intestinal tumors, benign|benign tumor of intestines|benign neoplasms of the large and/or small intestine|intestine benign neoplasm|benign intestinal tumors|benign intestinal tumor|benign tumor of the intestines|intestinal neoplasms, benign|benign neoplasm of intestines NCIT:C4609|UMLS:C0347269|SCTID:92151003 owl:Class MONDO:0010261 biolink:NamedThing microphthalmia, syndromic 2 tmpte7i6ely_mondo_relaxed.owl oculofaciocardiodental syndrome|MCOPS2|syndromic microphthalmia type 2|microphthalmia, syndromic 2|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia cataracts radiculomegaly and septal heart defects|microphthalmia syndromic 2|microphthalmia, cataracts, radiculomegaly, and septal heart defects|microphthalmia, syndromic type 2|MAA2 (formerly)|ANOP2 (formerly)|OFCD syndrome ICD10:Q87.8|OMIM:300166|ICD9:759.89|Orphanet:568|SCTID:699300009|Orphanet:2712|GARD:0004628 https://github.com/monarch-initiative/mondo/issues/2999 owl:Class MONDO:0021431 biolink:NamedThing squamous cell carcinoma of buccal mucosa A squamous cell carcinoma that involves the buccal mucosa. tmpte7i6ely_mondo_relaxed.owl scc of the buccal mucosa|scc of buccal mucosa|squamous cell carcinoma of the buccal mucosa|buccal mucosa squamous cell carcinoma UMLS:C0280299|NCIT:C4040|SCTID:254437001 owl:Class MONDO:0005467 biolink:NamedThing occupation-related stress disorder The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope. tmpte7i6ely_mondo_relaxed.owl SCTID:10586006|EFO:0005250|Wikipedia:Occupational_stress https://github.com/monarch-initiative/mondo/issues/3061 owl:Class MONDO:0012989 biolink:NamedThing microcephaly 7, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene. tmpte7i6ely_mondo_relaxed.owl STIL autosomal recessive primary microcephaly|microcephaly 7, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in STIL|MCPH7 UMLS:C2675187|OMIM:612703|MESH:C567198|DOID:0070278|Orphanet:2512 owl:Class MONDO:0011105 biolink:NamedThing alacrima, congenital, autosomal recessive tmpte7i6ely_mondo_relaxed.owl alacrima, congenital, autosomal recessive OMIM:601549|Orphanet:91416|UMLS:C4012597 owl:Class MONDO:0008290 biolink:NamedThing porokeratosis 1, Mibelli type tmpte7i6ely_mondo_relaxed.owl porokeratosis of Mibelli|POROK1|porokeratosis 1, multiple types|porokeratosis 1, MIBELLI type Orphanet:735|UMLS:C0949506|OMIM:175800 owl:Class GO:0045184 biolink:NamedThing establishment of protein localization The directed movement of a protein to a specific location. tmpte7i6ely_mondo_relaxed.owl establishment of protein localisation|protein recruitment|protein positioning owl:Class NCBITaxon:81852 biolink:NamedThing Enterococcaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:186826 biolink:NamedThing Lactobacillales tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0030457 biolink:NamedThing immunodeficiency 87 and autoimmunity tmpte7i6ely_mondo_relaxed.owl IMD87 OMIM:619573 owl:Class MONDO:0018747 biolink:NamedThing acquired epidermolysis bullosa Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB. tmpte7i6ely_mondo_relaxed.owl EBA|epidermolysis bullosa Aquisita|EB acquisita|acquired epidermolysis bullosa|epidermolysis bullosa acquisita Orphanet:46487|DOID:4313|MESH:D016107|GARD:0006360|EFO:1000691|ICD9:695.19|NCIT:C84690|ICD10:L12.30|MedDRA:10056508|ICD10:L12.3|SCTID:2772003|UMLS:C0079293 https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita owl:Class MONDO:0004214 biolink:NamedThing ovarian endometrioid cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl ovarian endometrioid cystadenofibroma UMLS:C1335158|DOID:7411|NCIT:C27288 owl:Class MONDO:0011751 biolink:NamedThing COPD, severe early onset tmpte7i6ely_mondo_relaxed.owl pulmonary disease, chronic obstructive, rate of decline of lung function 1N|COPD|pulmonary disease, chronic obstructive|pulmonary disease, chronic obstructive, Severe early-onset|Copd, Severe early-onset OMIM:606963 Editor note: consider merging to parent owl:Class CHEBI:25216 biolink:NamedThing metalloporphyrin tmpte7i6ely_mondo_relaxed.owl metalloporphyrins|metaloporphyrins owl:Class MONDO:0018259 biolink:NamedThing didymosis aplasticosebacea tmpte7i6ely_mondo_relaxed.owl aplasia cutis congenita-nevus sebaceus syndrome UMLS:CN204834|ICD10:Q84.8|Orphanet:370046 owl:Class GO:0009179 biolink:NamedThing purine ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleoside diphosphate metabolism owl:Class MONDO:0010483 biolink:NamedThing X-linked intellectual disability, Cantagrel type X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 98|MRX98|mental retardation, X-linked type 98|mental retardation, X-linked 98|intellectual disability, X-linked type 98 UMLS:C3806730|OMIM:300912|SCTID:719016007|Orphanet:85277|ICD10:Q87.8 owl:Class MONDO:0012192 biolink:NamedThing permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. tmpte7i6ely_mondo_relaxed.owl pancreatic and cerebellar agenesis|paca|diabetes mellitus, permanent neonatal, with cerebellar agenesis MESH:C563796|OMIM:609069|UMLS:C1836780|Orphanet:65288 owl:Class UBERON:0014706 biolink:NamedThing primitive renal collecting duct system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007501 biolink:NamedThing arborizing epithelial duct system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019771 biolink:NamedThing oromandibular dystonia Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles. tmpte7i6ely_mondo_relaxed.owl UMLS:C0393607|ICD10:G24.4|Orphanet:93958|DOID:0050843 owl:Class MONDO:0008320 biolink:NamedThing Protrusio acetabuli tmpte7i6ely_mondo_relaxed.owl PROTRUSIO acetabuli|Protrusio acetabuli|Protrusio acetabuli (disease) Protrusio acetabuli (disease) SCTID:59606006|OMIM:177050|HP:0003179 owl:Class MONDO:0100486 biolink:NamedThing adult acne Acne that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl acne, adult MESH:C565791|OMIM:604324 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4090 owl:Class MONDO:0017402 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, biventricular form tmpte7i6ely_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form OMIM:610193|ICD10:I42.8|Orphanet:293899|UMLS:CN203146|OMIM:107970 owl:Class HGNC:6502 biolink:NamedThing RPSA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012942 biolink:NamedThing lung cancer susceptibility 3 tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of lung, susceptibility to|LNCR3|lung cancer susceptibility 3 UMLS:C2675497|OMIM:612571 owl:Class GO:0019439 biolink:NamedThing aromatic compound catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. tmpte7i6ely_mondo_relaxed.owl aromatic hydrocarbon catabolism|aromatic compound degradation|aromatic compound breakdown|aromatic hydrocarbon catabolic process|aromatic compound catabolism owl:Class MONDO:0002645 biolink:NamedThing cerebritis Inflammation of the cerebrum. tmpte7i6ely_mondo_relaxed.owl cerebral hemisphere inflammation|inflammation of cerebral hemisphere DOID:3431|NCIT:C27199|UMLS:C0742115 owl:Class MONDO:0012903 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 45 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 45|autosomal recessive deafness 45|autosomal recessive nonsyndromic deafness type 45|autosomal recessive nonsyndromic deafness 45|DFNB45 ICD10:H90.3|DOID:0110502|OMIM:612433 owl:Class MONDO:0021158 biolink:NamedThing gonococcal epididymo-orchitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0341782|SCTID:236772009 owl:Class CHEBI:78505 biolink:NamedThing venom A toxin used by animals and injected into their victims by a bite or sting. tmpte7i6ely_mondo_relaxed.owl venoms owl:Class MONDO:0019615 biolink:NamedThing pituitary dermoid and epidermoid cysts tmpte7i6ely_mondo_relaxed.owl Orphanet:91351 owl:Class MONDO:0017286 biolink:NamedThing tempi syndrome TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. tmpte7i6ely_mondo_relaxed.owl telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting|telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome GARD:0010962|SCTID:718614004|UMLS:C3854394|Orphanet:284227|NCIT:C121656 https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome owl:Class MONDO:0060659 biolink:NamedThing neurodevelopmental disorder with poor language and loss of hand skills tmpte7i6ely_mondo_relaxed.owl NDPLHS|neurodevelopmental disorder with poor language and loss of hand skills OMIM:617903 owl:Class MONDO:0023540 biolink:NamedThing Kashani-Strom-Utley syndrome tmpte7i6ely_mondo_relaxed.owl hypoplastic pulmonary arteries and aorta with obstructive uropathy|Kashani Strom Utley syndrome|pulmonary aortic stenosis obstructive uropathy GARD:0000191|MESH:C537010|Orphanet:1137|UMLS:C2931392 MONDO:0023539 owl:Class UBERON:0006863 biolink:NamedThing proximal metaphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006865 biolink:NamedThing metaphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013581 biolink:NamedThing intellectual disability, autosomal dominant 2 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 2|autosomal dominant non-syndromic intellectual disability 2|mental retardation, autosomal dominant type 2|intellectual disability, autosomal dominant 2|autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|mental retardation, autosomal dominant 2|autosomal dominant intellectual disability 2|DOCK8 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 2|MRD2 OMIM:614113|UMLS:C3279842|DOID:0070032 owl:Class FOODON:03412115 biolink:NamedThing echinoderm Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm] tmpte7i6ely_mondo_relaxed.owl Echinodermata|Echinodermata Klein, 1734 owl:Class FOODON:03411142 biolink:NamedThing aquatic invertebrate animal (excluding shellfish) Aquatic animals other than fish and shellfish tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005887 biolink:NamedThing oral tuberculosis Tuberculosis of the mouth, tongue, and salivary glands. tmpte7i6ely_mondo_relaxed.owl ICD9:528.9|EFO:0007407|DOID:402|ICD9:017.90|UMLS:C0041323|MESH:D014393|SCTID:235067001 owl:Class PATO:0070002 biolink:NamedThing basket cell morphology A cell morphology that inheres in multipolar neurons with densely branched terminal axonal arborizations that form basket-like structures surrounding and synapsing to the somas of target cells. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0070026 biolink:NamedThing multipolar neuron morphology A cell morphology that inheres in neurons which possess a single axon and many dendrites and dendritic branches. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007880 biolink:NamedThing congenital laryngeal web Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. tmpte7i6ely_mondo_relaxed.owl glottic web, congenital anterior|Laryngeal web|subglottic Bar|subglottic bar, congenital heart disease and low stature|gay Feinmesser Cohen syndrome|laryngeal web, familial|subglottic web|laryngeal web, congenital heart disease and low stature MESH:C563636|OMIM:150360|NCIT:C98970|GARD:0002446|MESH:C537676|ICD10:Q31.0|MedDRA:10023871|SCTID:444921008|Orphanet:2374 https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome owl:Class GO:0046164 biolink:NamedThing alcohol catabolic process The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpte7i6ely_mondo_relaxed.owl alcohol degradation|alcohol breakdown|alcohol catabolism owl:Class GO:1901616 biolink:NamedThing organic hydroxy compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound. tmpte7i6ely_mondo_relaxed.owl organic hydroxy compound breakdown|organic hydroxy compound degradation|organic hydroxy compound catabolism owl:Class MONDO:0016842 biolink:NamedThing paternal 20q13.2q13.3 microdeletion syndrome Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl paternal 20q13.2-q13.3 microdeletion syndrome|paternal monosomy 20q13.2-q13.3|paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2q13.3 SCTID:724070005|Orphanet:261304|ICD10:Q93.5|UMLS:C4510306|UMLS:CN202182 owl:Class MONDO:0008384 biolink:NamedThing rheumatoid nodulosis A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules. tmpte7i6ely_mondo_relaxed.owl rheumatoid nodulosis|accelerated rheumatoid nodulosis SCTID:402426007|SCTID:402427003|OMIM:180350|MESH:D012218|GARD:0009625|UMLS:C1304215 https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis owl:Class MONDO:0008212 biolink:NamedThing Pechet factor deficiency tmpte7i6ely_mondo_relaxed.owl Pechet factor deficiency|Dynia factor deficiency MESH:C566814|UMLS:C1868545|OMIM:169200 owl:Class MONDO:0009839 biolink:NamedThing progressive supranuclear palsy-parkinsonism syndrome PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpte7i6ely_mondo_relaxed.owl PSP-p|Parkinson-dementia syndrome|Steele-Richardson-Olszewski syndrome, atypical|atypical PSP|supranuclear palsy, progressive, 1, atypical|progressive supranuclear palsy atypical|PSP-parkinsonism Orphanet:683|UMLS:CN201680|GARD:0004507|Orphanet:240085|ICD10:G23.1|MESH:C537240|Orphanet:99750|OMIM:260540 owl:Class NCBITaxon:11632 biolink:NamedThing Retroviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2169561 biolink:NamedThing Ortervirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009549 biolink:NamedThing hepatic sinusoid of right of lobe of liver tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009865 biolink:NamedThing glycogen storage disease due to phosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. tmpte7i6ely_mondo_relaxed.owl PGAM2 glycogen storage disease|Phosphoglycerate mutase, muscle, deficiency of|GSD 10|glycogenosis due to phosphoglycerate mutase deficiency|GSD10|GSD type 10|GSD due to phosphoglycerate mutase deficiency|myopathy due to phosphoglycerate mutase deficiency|glycogen storage disease type 10|glycogen storage disease X|PGAMM deficiency|PGAM deficiency|GSDX|muscle phosphoglycerate mutase deficiency|glycogen storage disease 10|myopathy due to Phosphoglycerate mutase deficiency|Phosphoglycerate mutase deficiency|glycogen storage disease caused by mutation in PGAM2 NCIT:C131647|OMIM:261670|SCTID:61772003|ICD10:E74.0|Orphanet:97234|GARD:0009964|MESH:C536176 owl:Class MONDO:0024661 biolink:NamedThing tubulovillous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. tmpte7i6ely_mondo_relaxed.owl tubulovillous adenoma UMLS:C0334307|ICDO:8263/0|NCIT:C4143 owl:Class MONDO:0002783 biolink:NamedThing Shwartzman phenomenon Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. tmpte7i6ely_mondo_relaxed.owl Shwartzman reaction (function)|Shwartzman reaction DOID:3825|UMLS:C0037018|GARD:0007636|MESH:D012790 https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon owl:Class MONDO:0009053 biolink:NamedThing ALDH18A1-related de Barsy syndrome ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. tmpte7i6ely_mondo_relaxed.owl cutis laxa, autosomal recessive, type 3A|De Barsy syndrome A|cutis laxa, corneal clouding, and intellectual disability|cutis laxa, autosomal recessive, type IIIA|neurocutaneous syndrome, Bicknell type|Delta-1-pyrroline 5-carboxylate synthetase deficiency|cutis laxa, corneal clouding, and mental retardation|De Barsy syndrome a|P5CS deficiency|progeroid syndrome of De Barsy|autosomal recessive cutis laxa type IIIA|ARCL3A ICD9:371.89|OMIM:219150|ICD10:Q82.8|Orphanet:2962|ICD10:Q87.8|DOID:0070132|Orphanet:35664|SCTID:59252009 owl:Class CHEBI:36054 biolink:NamedThing benzoate ester Esters of benzoic acid or substituted benzoic acids. tmpte7i6ely_mondo_relaxed.owl benzoate esters|benzoic acid esters|benzoate ester owl:Class MONDO:0008465 biolink:NamedThing Patterson-Stevenson-Fontaine syndrome Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. tmpte7i6ely_mondo_relaxed.owl split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome|split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Patterson Stevenson Fontaine syndrome|split foot deformity-mandibulofacial dysostosis syndrome|Patterson-Stevenson-Fontaine syndrome Orphanet:2439|UMLS:C1866741|GARD:0004260|OMIM:183700|SCTID:724069009|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome owl:Class MONDO:0030869 biolink:NamedThing spermatogenic failures 50 tmpte7i6ely_mondo_relaxed.owl SPGF50|spermatogenic failures 50 OMIM:619145 owl:Class MONDO:0011729 biolink:NamedThing stroke, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl stroke, susceptibility to, type 1|stroke, susceptibility to, 1|Strk1 OMIM:606799 owl:Class MONDO:0012751 biolink:NamedThing aortic aneurysm, familial abdominal, 3 tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial abdominal, 3|AAA3 MESH:C567501|Orphanet:86|UMLS:C2678470|OMIM:611891 owl:Class HGNC:18194 biolink:NamedThing ZNF365 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901021 biolink:NamedThing positive regulation of calcium ion transmembrane transporter activity Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpte7i6ely_mondo_relaxed.owl activation of calcium ion transmembrane transporter activity|upregulation of calcium ion transmembrane transporter activity|up-regulation of calcium ion transmembrane transporter activity|up regulation of calcium ion transmembrane transporter activity owl:Class GO:1903108 biolink:NamedThing regulation of mitochondrial transcription Any process that modulates the frequency, rate or extent of transcription occuring in the mitochondrion. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrial transcription|regulation of transcription from mitochondrial promoter owl:Class ECTO:0000730 biolink:NamedThing exposure to neurotoxin An exposure to neurotoxin. tmpte7i6ely_mondo_relaxed.owl exposure to neurotoxin owl:Class MONDO:0017512 biolink:NamedThing split hand, bilateral Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpte7i6ely_mondo_relaxed.owl ICD10:Q71.6|Orphanet:295122 owl:Class MONDO:0017449 biolink:NamedThing split hand Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpte7i6ely_mondo_relaxed.owl split hand|split hand (disease)|ectrodactyly of hand split hand (disease) ICD10:Q71.6|HP:0001171|Orphanet:294992 owl:Class MONDO:0009628 biolink:NamedThing microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. tmpte7i6ely_mondo_relaxed.owl microcolon (disease)|microcolon microcolon (disease) NCIT:C98987|MESH:C562563|HP:0004388|ICD9:751.5|OMIM:251400|SCTID:18389004 owl:Class MONDO:0025163 biolink:NamedThing white heifer disease A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. tmpte7i6ely_mondo_relaxed.owl disease, White heifer MESH:D050072|SCTID:82642007|UMLS:C0043152 owl:Class GO:0002526 biolink:NamedThing acute inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008011 biolink:NamedThing antigen defined by monoclonal antibody T87 tmpte7i6ely_mondo_relaxed.owl Msk2|antigen defined by monoclonal antibody T87 OMIM:158040 owl:Class MONDO:0006848 biolink:NamedThing marasmus The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. tmpte7i6ely_mondo_relaxed.owl nutritional marasmus|nutritional atrophy MedDRA:10026820|ICD10:E41|SCTID:29740003|UMLS:C0086588|DOID:12328|MESH:D011502|EFO:1001033|ICD9:261 owl:Class MONDO:0001371 biolink:NamedThing protein-energy malnutrition A nutritional deficit that is caused by inadequate protein or calorie intake. tmpte7i6ely_mondo_relaxed.owl Protein energy malnutrition ICD9:269.8|MESH:D011502|ICD9:263.9|ICD10:E46|NCIT:C34952|DOID:11801|ICD9:263.8|SCTID:238107002 owl:Class UBERON:0016553 biolink:NamedThing respiratory system mucus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3261 biolink:NamedThing EIF2B5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013867 biolink:NamedThing brown-Vialetto-van Laere syndrome 2 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene. tmpte7i6ely_mondo_relaxed.owl Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2|BROWN-Vialetto-VAN Laere syndrome 2|BVVLS2|SLC52A2 Brown-Vialetto-van Laere syndrome|Brown-Vialetto-Van Laere syndrome type 2|brown-Vialetto-van Laere syndrome 2 OMIM:614707|Orphanet:97229|HGNC:30224|UMLS:C3553538|GARD:0012861 https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2 owl:Class MONDO:0019258 biolink:NamedThing mild phenylketonuria Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. tmpte7i6ely_mondo_relaxed.owl variant PKU|mild PKU|mPKU|variant phenylketonuria GARD:0010324|ICD10:E70.1|Orphanet:79253 https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria owl:Class MONDO:0005960 biolink:NamedThing silicosis Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. tmpte7i6ely_mondo_relaxed.owl silica pneumoconiosis|silicosis|pneumoconiosis due to silicates|acute silicosis|silicotic fibrosis of lung|experimental silicosis|chronic silicosis|pneumoconiosis due to silica|pneumoconiosis caused by silica|silicotuberculosis|nodular silicosis|silicatosis|accelerated silicosis EFO:0007485|MESH:D012829|NCIT:C3369|ICD9:502|GARD:0007647|DOID:10325|UMLS:C0037116|ICD10:J62|ICD10:J62.8|SCTID:805002 https://rarediseases.info.nih.gov/diseases/7647/silicosis owl:Class GO:0071073 biolink:NamedThing positive regulation of phospholipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpte7i6ely_mondo_relaxed.owl positive regulation of phospholipid biosynthesis|positive regulation of phospholipid synthesis|activation of phospholipid biosynthetic process|positive regulation of phospholipid formation|upregulation of phospholipid biosynthetic process|stimulation of phospholipid biosynthetic process|up regulation of phospholipid biosynthetic process|up-regulation of phospholipid biosynthetic process|positive regulation of phospholipid anabolism owl:Class HGNC:3148 biolink:NamedThing TYMP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18601 biolink:NamedThing RTN4R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023188 biolink:NamedThing Freiberg disease Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. tmpte7i6ely_mondo_relaxed.owl Freiberg-Kohler syndrome|Osteochondrosis of the metatarsal head, usually the second|Freiberg's disease|Freiberg's infraction|second metatarsal osteochondrosis|Kohler's second disease MESH:C535636|SCTID:28466007|UMLS:C0264099|GARD:0002380 https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease owl:Class MONDO:0005907 biolink:NamedThing persian gulf syndrome Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) tmpte7i6ely_mondo_relaxed.owl Gulf war syndrome UMLS:C0282550|DOID:4491|SCTID:95877004|MESH:D018923|EFO:0007430|ICD9:300.89 owl:Class CL:0002043 biolink:NamedThing CD34-positive, CD38-negative multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. tmpte7i6ely_mondo_relaxed.owl Cell markers are associated with human hematopoietic multipotent progenitor cells. tmeehan 2010-01-12T11:14:15Z cell owl:Class CHEBI:76932 biolink:NamedThing pathway inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. tmpte7i6ely_mondo_relaxed.owl metabolic pathway inhibitor|pathway inhibitors|metabolic pathway inhibitors owl:Class MONDO:0030604 biolink:NamedThing cystic partially differentiated nephroblastoma A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. tmpte7i6ely_mondo_relaxed.owl cystic partially differentiated nephroblastoma|malignant cystic nephroma|malignant multilocular cystic nephroma NCIT:C6897|ICDO:8959/1|UMLS:C1266139|DOID:7571|ICDO:8959/3 owl:Class MONDO:0019248 biolink:NamedThing mucolipidosis A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. tmpte7i6ely_mondo_relaxed.owl Orphanet:79212|NCIT:C61267|SCTID:70528007|UMLS:C0026697|MESH:D009081|DOID:0080488 owl:Class MONDO:0004834 biolink:NamedThing ischemic fasciitis A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. tmpte7i6ely_mondo_relaxed.owl atypical decubital fibroplasia SCTID:403990005|DOID:9601|NCIT:C6483|UMLS:C1304514 owl:Class MONDO:0032693 biolink:NamedThing Galloway-Mowat syndrome 8 tmpte7i6ely_mondo_relaxed.owl GALLOWAY-MOWAT SYNDROME 8|GAMOS8 OMIM:618349 owl:Class MONDO:0008877 biolink:NamedThing blue diaper syndrome Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. tmpte7i6ely_mondo_relaxed.owl Drummond syndrome|familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria|blue diaper syndrome UMLS:C0268478|Orphanet:94086|OMIM:211000|SCTID:59531002|MESH:C536239|GARD:0005939|ICD10:E70.8 https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome owl:Class NCBITaxon:11079 biolink:NamedThing Murray Valley encephalitis virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100380 biolink:NamedThing acute myeloid leukemia, t(4;11)(q21;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.) tmpte7i6ely_mondo_relaxed.owl AML, t(4;11)(q21;q23.3)|AML, t(4;11)(q21;q23) NCIT:C36365 owl:Class CHEBI:35350 biolink:NamedThing hydroxy steroid tmpte7i6ely_mondo_relaxed.owl Hydroxysteroid|hydroxysteroids|hydroxy steroids owl:Class MONDO:0015994 biolink:NamedThing muscular dystrophy-white matter spongiosis syndrome tmpte7i6ely_mondo_relaxed.owl Atrophie blanche|muscular dystrophy white matter spongiosis UMLS:CN200619|GARD:0003854|Orphanet:1877|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis owl:Class MONDO:0014995 biolink:NamedThing neurodevelopmental disorder with hypotonia, seizures, and absent language tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, seizures, and absent language|neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL|NDHSAL UMLS:C4310643|OMIM:617268 owl:Class MONDO:0002940 biolink:NamedThing anal margin basal cell carcinoma A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare. tmpte7i6ely_mondo_relaxed.owl perianal skin skin basal cell carcinoma|basal cell carcinoma of the anal margin|skin basal cell carcinoma of perianal skin|anal margin basal cell carcinoma|basal cell carcinoma of the perianal skin|basal cell carcinoma of anal margin|basal cell carcinoma of perianal skin|perianal skin basal cell carcinoma UMLS:C1332269|NCIT:C7473|DOID:4283|ICD10:C44.510 owl:Class MONDO:0016609 biolink:NamedThing inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. tmpte7i6ely_mondo_relaxed.owl imam Orphanet:247718|ICD10:G72.4|SCTID:766706007|UMLS:CN201809 owl:Class HGNC:11023 biolink:NamedThing SLC35A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008542 biolink:NamedThing tetralogy of fallot Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. tmpte7i6ely_mondo_relaxed.owl Fallot tetralogy|TOF|tetralogy of FALLOT|tetralogy of fallot|ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle ICD9:745.2|ICD10:Q21.3|OMIM:187500|Orphanet:3303|GARD:0002245|MedDRA:10016193|DOID:6419|MESH:D013771|UMLS:C0039685|NCIT:C84505|SCTID:86299006 https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot owl:Class HP:0045014 biolink:NamedThing Hypolipidemia tmpte7i6ely_mondo_relaxed.owl UMLS:C0342892|SNOMEDCT_US:238090007 HPO:skoehler human_phenotype owl:Class MONDO:0007259 biolink:NamedThing craniofaciofrontodigital syndrome Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). tmpte7i6ely_mondo_relaxed.owl craniofaciofrontodigital syndrome|Cantu craniofaciofrontodigital syndrome UMLS:C2676032|OMIM:114620|ICD10:Q87.0|SCTID:763320005|Orphanet:363705|MESH:C567298 owl:Class MONDO:0002590 biolink:NamedThing combined thymoma tmpte7i6ely_mondo_relaxed.owl DOID:3281 owl:Class UBERON:0005502 biolink:NamedThing rhombomere roof plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003529 biolink:NamedThing acute pyelonephritis Sudden onset pyelonephritis. tmpte7i6ely_mondo_relaxed.owl pyelonephritis, acute SCTID:36689008|ICD9:590.1|DOID:559|UMLS:C0520575|ICD10:N10|NCIT:C123215 owl:Class HP:0010307 biolink:NamedThing Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. tmpte7i6ely_mondo_relaxed.owl Noisy breathing SNOMEDCT_US:248573009|MSH:D012135|SNOMEDCT_US:70407001|UMLS:C0237304|UMLS:C0038450 Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. peter 2009-07-12T02:16:48Z human_phenotype owl:Class GO:0016614 biolink:NamedThing oxidoreductase activity, acting on CH-OH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on the CH-OH group of donors, other acceptors owl:Class MONDO:0002096 biolink:NamedThing malignant conjunctival melanoma A malignant melanoma within the conjunctiva of the eye. tmpte7i6ely_mondo_relaxed.owl malignant conjunctival melanoma|conjunctiva melanoma|melanoma of the conjunctiva|conjunctival melanoma|conjunctiva melanoma (disease)|malignant conjunctiva melanoma|malignant melanoma of the conjunctiva|malignant melanoma of conjunctiva|melanoma of conjunctiva|melanoma (disease) of conjunctiva|CM DOID:1751|EFO:1000204|UMLS:C0346360|SCTID:255004001|ONCOTREE:CM|NCIT:C4550|GARD:0010744 owl:Class UBERON:0009581 biolink:NamedThing midbrain mantle layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010658 biolink:NamedThing syndromic X-linked intellectual disability 12 X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic 12|MRXS12|mental retardation, X-linked, syndromic 12|syndromic X-linked intellectual disability type 12|X-linked intellectual disability, Wilson type OMIM:309545|ICD10:Q87.8|UMLS:C1839792|MESH:C564106|SCTID:719009006|DOID:0060804|Orphanet:85290 owl:Class MONDO:0013582 biolink:NamedThing mosaic variegated aneuploidy syndrome 2 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene. tmpte7i6ely_mondo_relaxed.owl CEP57 mosaic variegated aneuploidy syndrome|mosaic variegated aneuploidy syndrome type 2|Mosaic variegated aneuploidy syndrome type 2|MVA2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|MOSAIC variegated aneuploidy syndrome 2|mosaic variegated aneuploidy syndrome 2 DOID:0080142|OMIM:614114|Orphanet:1052|UMLS:C3279843 owl:Class MONDO:0010732 biolink:NamedThing spastic paraparesis-deafness syndrome Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. tmpte7i6ely_mondo_relaxed.owl spastic paraparesis - deafness|Wells-Jankovic syndrome|spastic paraparesis and deafness|familial spastic paraparesis and deafness GARD:0005555|Orphanet:2815|ICD10:G11.4|OMIM:312910|MESH:C536692|UMLS:C2931291|SCTID:715504003 owl:Class MONDO:0000757 biolink:NamedThing glucocorticoid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. tmpte7i6ely_mondo_relaxed.owl steroid-induced osteoporosis DOID:0060343 owl:Class HP:0002373 biolink:NamedThing Febrile seizure (within the age range of 3 months to 6 years) A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. tmpte7i6ely_mondo_relaxed.owl Febrile seizures|Febrile convulsion|Seizures, generalized, associated with fever|Fever induced seizures|Seizures, febrile, in early childhood MSH:D003294|UMLS:C0009952|SNOMEDCT_US:41497008 Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. HP:0007102|HP:0002175 human_phenotype owl:Class HP:0032894 biolink:NamedThing Seizure precipitated by febrile infection Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. tmpte7i6ely_mondo_relaxed.owl Fever induced seizure Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. peter human_phenotype owl:Class MONDO:0000119 biolink:NamedThing congenital heart defects, multiple types tmpte7i6ely_mondo_relaxed.owl CHTD Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. owl:Class MONDO:0004567 biolink:NamedThing ileus Decrease in peristalsis in the absence of a mechanical bowel obstruction. tmpte7i6ely_mondo_relaxed.owl ileus of intestine SCTID:710572000|UMLS:C1258215|SCTID:81060008|MESH:D045823|DOID:8440|NCIT:C37979 owl:Class HP:0000774 biolink:NamedThing Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. tmpte7i6ely_mondo_relaxed.owl Narrow shoulders|Low chest circumference|Narrow chest|Narrow thorax|Reduced anterior-posterior chest diameter SNOMEDCT_US:249671009|UMLS:C0426790 HP:0005252|HP:0006588|HP:0000909 human_phenotype owl:Class MONDO:0042724 biolink:NamedThing macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations tmpte7i6ely_mondo_relaxed.owl Volcke Soekarman syndrome GARD:0000172 owl:Class MONDO:0012638 biolink:NamedThing microphthalmia-brain atrophy syndrome Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. tmpte7i6ely_mondo_relaxed.owl MOBA|microphthalmia and brain atrophy|syndromic microphthalmia type 10|microphthalmia syndromic 10|MOBA syndrome|microphthalmia, syndromic 10|MCOPS10 MESH:C566985|GARD:0009292|Orphanet:77299|OMIM:611222|SCTID:720010009|ICD10:Q11.2 https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 owl:Class HGNC:28213 biolink:NamedThing PIGY tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046486 biolink:NamedThing glycerolipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. tmpte7i6ely_mondo_relaxed.owl glycerolipid metabolism owl:Class HGNC:4268 biolink:NamedThing CBLIF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013699 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 4 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. tmpte7i6ely_mondo_relaxed.owl colorectal cancer, hereditary nonpolyposis, type 4|PMS2 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in PMS2|HNPCC4 Orphanet:144|DOID:0070275|OMIM:614337|UMLS:C1838333|MESH:C563971 owl:Class MONDO:0000866 biolink:NamedThing myoglobinuria tmpte7i6ely_mondo_relaxed.owl myoglobinurias OMIM:160010|OMIM:550500|HP:0002913|NCIT:C114705|OMIM:268200|ICD10:R82.1|MESH:D009212|DOID:0080108 TODO: cede to HPO owl:Class GO:0016445 biolink:NamedThing somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins. tmpte7i6ely_mondo_relaxed.owl somatic diversification of antibodies owl:Class MONDO:0013614 biolink:NamedThing hypertelorism-preauricular sinus-punctual pits-deafness syndrome tmpte7i6ely_mondo_relaxed.owl hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome|hypertelorism, preauricular sinus, punctal pits, and deafness|HPPD UMLS:C3280065|Orphanet:293958|OMIM:614187 owl:Class MONDO:0011660 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 22 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. tmpte7i6ely_mondo_relaxed.owl DFNA22|deafness, autosomal dominant nonsyndromic sensorineural 22|MYO6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 22|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|deafness, autosomal dominant type 22|autosomal dominant nonsyndromic deafness caused by mutation in MYO6|deafness, autosomal dominant 22|autosomal dominant deafness 22|autosomal dominant nonsyndromic deafness type 22|DFNA 22 Orphanet:90635|ICD10:H90.3|MESH:C538197|GARD:0009167|OMIM:606346|DOID:0110552 owl:Class HGNC:18187 biolink:NamedThing SIAE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014300 biolink:NamedThing proximal myopathy with extrapyramidal signs Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. tmpte7i6ely_mondo_relaxed.owl myopathy with extrapyramidal signs|MPXPS OMIM:615673|ICD10:G71.3|Orphanet:401768|DOID:0111335|GARD:0012978|UMLS:C3810285 owl:Class UBERON:0022298 biolink:NamedThing lower eyelid nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001509 biolink:NamedThing endocrine exophthalmos tmpte7i6ely_mondo_relaxed.owl SCTID:276177000|ICD9:376.2|UMLS:C0155264|DOID:12359 owl:Class MONDO:0006603 biolink:NamedThing reactive cutaneous fibrous lesion A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. tmpte7i6ely_mondo_relaxed.owl DOID:2053|NCIT:C27549|UMLS:C1335666|EFO:1000759 owl:Class MONDO:0008837 biolink:NamedThing ataxia, deafness, and cardiomyopathy tmpte7i6ely_mondo_relaxed.owl ataxia, deafness, and cardiomyopathy UMLS:C1859645|OMIM:208750|MESH:C565932 owl:Class MONDO:0016080 biolink:NamedThing congenital bronchobiliary fistula Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. tmpte7i6ely_mondo_relaxed.owl ICD10:Q32.4|SCTID:719452004|GARD:0001475|Orphanet:2040 https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula owl:Class MONDO:0032648 biolink:NamedThing mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations tmpte7i6ely_mondo_relaxed.owl MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS|MCCCHCM DOID:0111403|OMIM:618273 owl:Class MONDO:0006479 biolink:NamedThing undifferentiated pancreatic carcinoma with osteoclast-like giant cells A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells. tmpte7i6ely_mondo_relaxed.owl osteoclast-like giant cell neoplasm of pancreas|osteoclast-like giant cell neoplasm of the pancreas|undifferentiated pancreatic carcinoma with osteoclast-like giant cells|pancreatic osteoclast-like giant cell carcinoma DOID:7718|UMLS:C2007059|NCIT:C5723|EFO:1000607 owl:Class ENVO:09200000 biolink:NamedThing temperature of environmental material The temperature of some environmental material. tmpte7i6ely_mondo_relaxed.owl environmental material temperature owl:Class MONDO:0019178 biolink:NamedThing auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.0|UMLS:CN205748|Orphanet:77300 owl:Class MONDO:0007953 biolink:NamedThing Binder syndrome A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. tmpte7i6ely_mondo_relaxed.owl Maxillonasal dysostosis|maxillonasal dysplasia|MAXILLONASAL dysplasia, BINDER type|Binder syndrome|binder type maxillonasal dysplasia|binder syndrome OMIM:155050|ICD10:Q75.8|SCTID:715985008|MESH:C536036|DOID:14683|GARD:0006992|UMLS:C0220692|Orphanet:1248 owl:Class CHEBI:17997 biolink:NamedThing dinitrogen An elemental molecule consisting of two trivalently-bonded nitrogen atoms. tmpte7i6ely_mondo_relaxed.owl Nitrogen|N#N|N2|dinitrogen|molecular nitrogen owl:Class CHEBI:25362 biolink:NamedThing elemental molecule A molecule all atoms of which have the same atomic number. tmpte7i6ely_mondo_relaxed.owl homoatomic molecule|homoatomic molecules owl:Class MONDO:0021523 biolink:NamedThing benign neoplasm of pharynx A benign neoplasm that involves the pharynx. tmpte7i6ely_mondo_relaxed.owl pharynx benign neoplasm|benign neoplasm of the pharynx|benign pharyngeal tumor|benign pharyngeal neoplasm|benign pharynx tumor|benign pharynx neoplasm|pharyngeal neoplasm benign|benign tumor of pharynx|benign tumor of the pharynx ICD9:210.9|UMLS:C0153940|NCIT:C3597|SCTID:92293007 owl:Class MONDO:0007315 biolink:NamedThing cherubism Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. tmpte7i6ely_mondo_relaxed.owl familial fibrous dysplasia of the jaws|CRBM|Crbm|familial multilocular cystic disease of the jaws|cherubism ICD10:M27.8|MedDRA:10070535|OMIM:118400|SCTID:76098004|NCIT:C84630|ICD10:K10.8|Orphanet:184|DOID:1856|MESH:D002636|UMLS:C0008029|ICD9:526.89|GARD:0006036 https://rarediseases.info.nih.gov/diseases/6036/cherubism owl:Class CHEBI:16336 biolink:NamedThing hyaluronic acid A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. tmpte7i6ely_mondo_relaxed.owl Hyaluronic acid|Hyaluronsaeure|hyaluronan|acide hyaluronique|acido hialuronico|[beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n|[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n owl:Class CHEBI:37395 biolink:NamedThing mucopolysaccharide Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. tmpte7i6ely_mondo_relaxed.owl mucopolisacarido|Mucopolysaccharid|mucopolisacaridos|mucopolysaccharides|Mukopolysaccharid|Mucopolysaccharide owl:Class MONDO:0004136 biolink:NamedThing ovarian endometrioid cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. tmpte7i6ely_mondo_relaxed.owl ovarian endometrioid cystadenoma DOID:7191|NCIT:C40075|UMLS:C1518713 owl:Class HGNC:9603 biolink:NamedThing PTGIS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032810 biolink:NamedThing oocyte maturation defect 7 tmpte7i6ely_mondo_relaxed.owl OOMD7|OOCYTE MATURATION DEFECT 7 OMIM:618550 owl:Class GO:0050910 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of sound The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. tmpte7i6ely_mondo_relaxed.owl sensory transduction of sound|hearing, sensory transduction of sound|detection of sound|perception of sound, sensory transduction of mechanical stimulus|sensory detection of mechanical stimulus during perception of sound|perception of sound, sensory detection of mechanical stimulus|perception of sound, detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of sound owl:Class GO:0014057 biolink:NamedThing positive regulation of acetylcholine secretion, neurotransmission Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine. tmpte7i6ely_mondo_relaxed.owl stimulation of acetylcholine secretion|activation of acetylcholine secretion|up regulation of acetylcholine secretion|upregulation of acetylcholine secretion|up-regulation of acetylcholine secretion owl:Class GO:1904479 biolink:NamedThing negative regulation of intestinal absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption. tmpte7i6ely_mondo_relaxed.owl down regulation of intestinal absorption|down-regulation of intestinal absorption|inhibition of intestinal absorption|downregulation of intestinal absorption owl:Class MONDO:0019091 biolink:NamedThing bronchopulmonary dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. tmpte7i6ely_mondo_relaxed.owl BPD UMLS:C0006287|GARD:0005962|SCTID:67569000|MESH:D001997|NCIT:C90599|ICD10:P27.1|MedDRA:10006475|Orphanet:70589 https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia owl:Class CHEBI:50949 biolink:NamedThing serotonin uptake inhibitor A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent. tmpte7i6ely_mondo_relaxed.owl SSRI|serotonin reuptake inhibitor owl:Class CHEBI:48278 biolink:NamedThing serotonergic drug tmpte7i6ely_mondo_relaxed.owl serotonergic drugs|serotonergic agents|serotonin drugs owl:Class MONDO:0004638 biolink:NamedThing lymphosarcoma An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes. tmpte7i6ely_mondo_relaxed.owl lymphosarcoma|malignant lymphoma (category)|diffuse lymphoma SCTID:118601006|ICD9:200.1|SCTID:373168002|DOID:8675|MESH:D008228|NCIT:C3211|SCTID:188498009|ICD9:200.7|GARD:0006946|ICD10:C85.9|UMLS:C0024305|NCIT:C26919|ICD9:200.0|ICD9:200.10|NCIT:C27824|ICD10:C85.0 https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma owl:Class MONDO:0009904 biolink:NamedThing Gitelman syndrome Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. tmpte7i6ely_mondo_relaxed.owl Potassium and magnesium depletion|Gitelman syndrome|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|Gitelman's syndrome|GTLMNS|hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|familial hypokalemia-hypomagnesemia MedDRA:10062906|UMLS:C0268450|MESH:D053579|DOID:0050450|GARD:0008547|SCTID:707756004|Orphanet:358|NCIT:C84730|ICD10:N15.8|OMIM:263800|ICD9:275.49 https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome owl:Class ENVO:01001856 biolink:NamedThing liquid accumulation process A material accumulation process during which the volume of liquid entity increases. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004104 biolink:NamedThing splenic manifestation of hairy cell leukemia A hairy cell leukemia that involves the spleen. tmpte7i6ely_mondo_relaxed.owl hairy cell leukemia of spleen|spleen hairy cell leukemia|splenic manifestation of hairy cell leukemia ICD9:202.47|DOID:709|NCIT:C7301|SCTID:93151007|UMLS:C1336064 owl:Class UBERON:0012084 biolink:NamedThing lumen of secondary bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000240 biolink:NamedThing invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. tmpte7i6ely_mondo_relaxed.owl DOID:0050073|UMLS:C0238013|SCTID:721798004 owl:Class CHEBI:48376 biolink:NamedThing carbamimidic acid tmpte7i6ely_mondo_relaxed.owl H2N-C(OH)=NH|isourea|carbamimidic acid|H2N-C(=NH)-OH|carbamimic acid|HO-C(=NH)-NH2|Isoharnstoff|pseudourea|carbonamidimidic acid owl:Class CHEBI:48379 biolink:NamedThing isourea A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives. tmpte7i6ely_mondo_relaxed.owl isoureas owl:Class MONDO:0017427 biolink:NamedThing congenital deformities of limbs tmpte7i6ely_mondo_relaxed.owl Orphanet:294944|MedDRA:10024500 owl:Class MONDO:0017880 biolink:NamedThing Rift valley fever Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. tmpte7i6ely_mondo_relaxed.owl RVF UMLS:C0035613|NCIT:C128419|SCTID:402917003|Orphanet:319251|MedDRA:10039143|MESH:D012295|ICD10:A92.4|DOID:1328 owl:Class HGNC:12404 biolink:NamedThing TTPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014056 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, type 9|susceptibility to cutaneous malignant melanoma 9|melanoma, cutaneous malignant, susceptibility to, 9|CMM9 Orphanet:618|OMIM:615134 owl:Class HGNC:26230 biolink:NamedThing TM4SF20 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12303 biolink:NamedThing TRIO tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000069 biolink:NamedThing gallbladder fibroblast Any fibroblast that is part of a gallbladder. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=5430 TermGenie 2014-10-07T18:41:43Z cell owl:Class MONDO:0012014 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate A Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, recessive intermediate A|RI-CMTA|Charcot-Marie-Tooth neuropathy, recessive Intermediate a|Ri-Cmta|Charcot-Marie-Tooth disease, recessive Intermediate type a|RI-CMT type A|autosomal recessive intermediate Charcot-Marie-Tooth disease type A|CMTRIA|Charcot-Marie-Tooth neuropathy recessive intermediate A|Charcot-Marie-Tooth disease caused by mutation in GDAP1|GDAP1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate type A|Charcot-Marie-Tooth disease, recessive intermediate, A Orphanet:217055|DOID:0110201|GARD:0012453|OMIM:608340|UMLS:C1842197|ICD10:G60.0|MESH:C564256 owl:Class MONDO:0024246 biolink:NamedThing syringofibroadenoma A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma. tmpte7i6ely_mondo_relaxed.owl eccrine syringofibroadenoma of skin|eccrine syringofibroadenoma|acrosyringeal nevus|eccrine syringofibroadenomatous hyperplasia|acrosyringeal adenomatosis|syringofibroadenoma ICDO:8392/0|NCIT:C43356|UMLS:C0473578|UMLS:C1266060|HP:0031018|SCTID:403936002 owl:Class PATO:0001410 biolink:NamedThing striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017722 biolink:NamedThing Sandhoff disease, juvenile form tmpte7i6ely_mondo_relaxed.owl juvenile GM2 gangliosidosis 0 variant|Hexosaminidases A and B deficiency, juvenile form ICD10:E75.0|Orphanet:309162|UMLS:CN203618|OMIM:268800 owl:Class HP:0011339 biolink:NamedThing Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. tmpte7i6ely_mondo_relaxed.owl Anomaly of the upper lip vermillion|Malformation of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion UMLS:C4023406 peter 2012-02-26T01:32:28Z human_phenotype owl:Class HGNC:20653 biolink:NamedThing SLC9A9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000750 biolink:NamedThing dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. tmpte7i6ely_mondo_relaxed.owl ICD10:K04.6|SCTID:299709002|UMLS:C0518988|DOID:0060324 owl:Class GO:0071840 biolink:NamedThing cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpte7i6ely_mondo_relaxed.owl cellular component organisation or biogenesis at cellular level|cellular component organization or biogenesis at cellular level|cellular component organisation or biogenesis owl:Class MONDO:0005835 biolink:NamedThing Lynch syndrome An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. tmpte7i6ely_mondo_relaxed.owl Hereditary colorectal endometrial cancer syndrome|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary non-polyposis colon cancer type 1|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary defective mismatch repair syndrome|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|HNPCC - hereditary nonpolyposis colon cancer|Lynch syndrome|hereditary nonpolyposis colorectal neoplasm|hereditary nonpolyposis colorectal cancer OMIM:613244|OMIM:614350|DOID:3883|OMIM:614337|MedDRA:10051981|OMIM:614385|NCIT:C120083|OMIM:120435|NCIT:C8494|OMIM:609310|Orphanet:144|EFO:0007354|OMIM:614331|ICD10:D48.9|SCTID:716318002 Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. https://github.com/monarch-initiative/mondo/issues/1673|https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc|https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria owl:Class MONDO:0000525 biolink:NamedThing cecum villous adenoma A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl villous adenoma of the cecum|caecum villous adenoma|villous adenoma of cecum|cecum adenoma|cecum villous adenoma|caecum adenoma|cecal villous adenoma EFO:1000155|DOID:0050910|UMLS:C1332869|NCIT:C5520 owl:Class MONDO:0017046 biolink:NamedThing neuroepithelioma Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation. tmpte7i6ely_mondo_relaxed.owl ICD10:C71.9|OMIM:612219|Orphanet:2677|GARD:0003963 Editor note: see also MONDO:0005462 and MONDO:0021193 https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma owl:Class MONDO:0009893 biolink:NamedThing polydactyly, postaxial, type A5 tmpte7i6ely_mondo_relaxed.owl polydactyly, postaxial, type A5|PAPA5 UMLS:C3550661|OMIM:263450|Orphanet:93334 owl:Class MONDO:0003745 biolink:NamedThing choroid spindle cell melanoma A spindle cell melanoma that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl spindle cell melanoma of optic choroid|optic choroid spindle cell melanoma|spindle cell melanoma of the choroid|spindle cell melanoma of choroid DOID:6041|UMLS:C1333027|NCIT:C6099 owl:Class MONDO:0030897 biolink:NamedThing Lessel-Kreienkamp syndrome tmpte7i6ely_mondo_relaxed.owl LESKRES OMIM:619149 owl:Class FOODON:00002196 biolink:NamedThing refined or partially-refined food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0040653 biolink:NamedThing autosomal recessive ocular albinism Autosomal recessive form of ocular albinism (disease). tmpte7i6ely_mondo_relaxed.owl ocular albinism (disease), autosomal recessive|autosomal recessive ocular albinism|autosomal recessive ocular albinism (disease)|AROA SCTID:78921008 owl:Class MONDO:0017304 biolink:NamedThing ocular albinism Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. tmpte7i6ely_mondo_relaxed.owl ocular albinism (disease)|XLOA|ocular albinism ocular albinism (disease) SCTID:26399002|MedDRA:10065276|Orphanet:284804|ICD9:270.2|DOID:0050633|ICD10:E70.3|HP:0001107|MESH:D016117 owl:Class MONDO:0005886 biolink:NamedThing oral candidiasis Infection of the mucosal lining of the mouth with the fungus Candida albicans. tmpte7i6ely_mondo_relaxed.owl thrush|candidiasis of mouth|mouth candidiasis|oral moniliasis|thrush, oral NCIT:C28137|MESH:D002180|ICD10:B37.0|UMLS:C0006849|DOID:14262|ICD10:B37.9|SCTID:79740000|EFO:0007406|ICD9:112.0|SCTID:78048006 owl:Class MONDO:0002227 biolink:NamedThing ovarian lymphoma A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. tmpte7i6ely_mondo_relaxed.owl primary ovarian lymphoma|lymphoma of ovary|ovarian lymphoma|ovary lymphoma UMLS:C1518720|NCIT:C40021|DOID:2150 owl:Class MONDO:0013974 biolink:NamedThing ectodermal dysplasia 6, hair/nail type tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia 6, hair/nail type|ECTD6 UMLS:C3554111|DOID:0111659|Orphanet:69084|OMIM:614928 owl:Class HGNC:17194 biolink:NamedThing NDUFA13 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11278 biolink:NamedThing SPTLC2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034255 biolink:NamedThing regulation of urea metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea. tmpte7i6ely_mondo_relaxed.owl regulation of urea metabolism owl:Class MONDO:0009788 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive tmpte7i6ely_mondo_relaxed.owl optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive OMIM:258650 owl:Class MONDO:0006673 biolink:NamedThing pituitary gland basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. tmpte7i6ely_mondo_relaxed.owl pituitary gland basophilic adenoma|mucoid cell adenoma|basophilic pituitary gland adenoma|basophilic adenoma|basophil adenoma|pituitary basophilic adenoma ICDO:8300/0|EFO:1000834|UMLS:C0001431|DOID:4542|MESH:D000237|NCIT:C2856 owl:Class MONDO:0018775 biolink:NamedThing axonal hereditary motor and sensory neuropathy tmpte7i6ely_mondo_relaxed.owl axonal HMSN Orphanet:476109 owl:Class MONDO:0018720 biolink:NamedThing common cystic lymphatic malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:458833 owl:Class MONDO:0009400 biolink:NamedThing hyperprolinemia type 1 Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). tmpte7i6ely_mondo_relaxed.owl HPI|HYRPRO1|hyperprolinemia caused by mutation in PRODH|hyperprolinemia type 1|proline oxidase deficiency|PRODH hyperprolinemia|hyperprolinemia, type 1|hyperprolinemia, type I ICD9:270.8|Orphanet:419|OMIM:239500|SCTID:61071003|DOID:0080542|MedDRA:10058513|ICD10:E72.5 owl:Class MONDO:0018590 biolink:NamedThing ABeta2M amyloidosis tmpte7i6ely_mondo_relaxed.owl Beta2-microglobulinic amyloidosis Orphanet:439246 owl:Class CL:0000484 biolink:NamedThing connective tissue type mast cell Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent. tmpte7i6ely_mondo_relaxed.owl MC(TC)|TC mast cells|MCTC They are CD88-positive. The cytoplasmic granules contain high levels of histamine and heparin (mouse) or major neutral proteases, tryptase, chymase, carboxypeptidase A, and cathepsin G (humans). Reportedly, they cannot produce leukotrienes (LTC4) and IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. cell owl:Class NCBITaxon:7198 biolink:NamedThing Phlebotominae tmpte7i6ely_mondo_relaxed.owl sand flies|sandflies GC_ID:1|PMID:9835021 ncbi_taxonomy owl:Class MONDO:0018467 biolink:NamedThing nephropathic infantile cystinosis Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. tmpte7i6ely_mondo_relaxed.owl cystinosin, defect of|nephropathic infantile cystinosis|lysosomal cystine transport protein, defect of|cystinosis, infantile nephropathic|CTNS|cystinosis, atypical nephropathic UMLS:C0010690|ICD10:E72.0+|Orphanet:213|ICD10:N16.3*|Orphanet:411629|OMIM:219800 owl:Class GO:0046878 biolink:NamedThing positive regulation of saliva secretion Any process that activates or increases the frequency, rate or extent of the regulated release of saliva. tmpte7i6ely_mondo_relaxed.owl activation of saliva secretion|upregulation of saliva secretion|stimulation of saliva secretion|up regulation of saliva secretion|up-regulation of saliva secretion owl:Class MONDO:0009584 biolink:NamedThing intellectual disability, Buenos-Aires type Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. tmpte7i6ely_mondo_relaxed.owl intellectual disability Buenos Aires type|Mutchinick syndrome|mental retardation Buenos Aires type|intellectual disability, Buenos Aires type|mental retardation, Buenos Aires type|intellectual deficit Buenos-Aires type ICD10:Q87.8|MESH:C563095|OMIM:249630|SCTID:725906006|UMLS:C0796080|GARD:0003485|Orphanet:3079 https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type owl:Class MONDO:0009715 biolink:NamedThing myotonia congenita, autosomal recessive Autosomal recessive form of myotonia congenita. tmpte7i6ely_mondo_relaxed.owl myotonia congenita, autosomal recessive|Becker disease|myotonia, generalized|autosomal recessive myotonia congenita UMLS:C0751360|Orphanet:614|OMIM:255700 owl:Class MONDO:0008235 biolink:NamedThing pheochromocytoma-islet cell tumor syndrome tmpte7i6ely_mondo_relaxed.owl pheochromocytoma-islet cell tumor syndrome|pheochromocytoma--islet cell tumor syndrome|pheochromocytoma and islet cell tumor of the pancreas UMLS:C1868392|GARD:0004321|MESH:C566807|OMIM:171420 https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome owl:Class MONDO:0100373 biolink:NamedThing acute myeloid leukemia, inv(16)(p13.1;q22) Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) tmpte7i6ely_mondo_relaxed.owl AML, inv(16)(p13.1q22.1)|AML, inv(16)(p13.1q22)|AML, inv(16)(p13;q22)|AML, inv(16)(p13.1;q22.1)|AML, inv(16)(p13q22)|AML, inv(16)(p13.1;q22) NCIT:C36373|NCIT:C9018 owl:Class MONDO:0002877 biolink:NamedThing cervical carcinosarcoma A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma. tmpte7i6ely_mondo_relaxed.owl malignant Mullerian mixed tumor of the cervix uteri|cervical mixed epithelial and mesenchymal neoplasm|cervical malignant mixed mesodermal (Müllerian) tumor|cervical malignant mixed mesodermal mullerian tumor|carcinosarcoma of the cervix uteri|cervical malignant Mullerian mixed tumor|malignant Müllerian mixed tumor of the cervix uteri|cervical malignant mixed Mullerian tumor|cervical malignant Müllerian mixed tumor|uterine cervix carcinosarcoma|cervical malignant mixed mesodermal (Mullerian) tumor|cervical carcinosarcoma UMLS:CN201068|UMLS:C1332917|ICD10:C53|DOID:4112|Orphanet:213787|NCIT:C36097|SCTID:764951002|UMLS:C1516420 owl:Class MONDO:0007551 biolink:NamedThing epidermolysis bullosa simplex 1C, localized A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. tmpte7i6ely_mondo_relaxed.owl EBS-loc|epidermolysis bullosa simplex, localized|EBS, acral form|epidermolysis bullosa simplex, Weber-Cockayne type|epidermolysis bullosa simplex of palms and soles|Weber-Cockayne syndrome|localized epidermolysis bullosa simplex|epidermolysis bullosa of hands and feet|Weber-Cockayne type epidermolysis bullosa simplex OMIM:131800|ICD10:Q81.0|ICD9:757.39|DOID:0080510|Orphanet:79400|SCTID:294705005|GARD:0002146 https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized owl:Class GO:2000259 biolink:NamedThing positive regulation of protein activation cascade Any process that activates or increases the frequency, rate or extent of protein activation cascade. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein activitory cascade|positive regulation of protein activation pathway owl:Class MONDO:0008680 biolink:NamedThing Wilms tumor 2 tmpte7i6ely_mondo_relaxed.owl Wilms tumor type 2|Wilms tumor 2|FWT2|familial Wilms tumor 2|WT2 Orphanet:654|MESH:C536853|OMIM:194071|GARD:0008559 https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2 owl:Class UBERON:0015873 biolink:NamedThing heel skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002388 biolink:NamedThing intracystic papillary adenoma A papillary epithelial neoplasm arising in a cystically dilated breast duct. tmpte7i6ely_mondo_relaxed.owl intracystic papillary adenoma|intracystic papilloma|intracystic papillary adenoma (morphologic abnormality) DOID:2682|UMLS:C0334374|NCIT:C4191|ICDO:8504/0 owl:Class NCBITaxon:33183 biolink:NamedThing Onygenales tmpte7i6ely_mondo_relaxed.owl Arachnomycetales|Ascosphaerales|Gymnoascales PMID:17486980|GC_ID:1 NCBITaxon:259362|NCBITaxon:36053|NCBITaxon:5102 ncbi_taxonomy owl:Class MONDO:0016299 biolink:NamedThing holoprosencephaly-caudal dysgenesis syndrome A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). tmpte7i6ely_mondo_relaxed.owl UMLS:CN201097|ICD10:Q04.2|Orphanet:2165 owl:Class HGNC:18858 biolink:NamedThing PIGM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016321 biolink:NamedThing pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD). tmpte7i6ely_mondo_relaxed.owl infantile cellular interstitial pneumonitis|pig Orphanet:217557|UMLS:C3161106|ICD10:J84.842|SCTID:707551007|ICD10:P22.8 owl:Class HGNC:10471 biolink:NamedThing RUNX1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:203491 biolink:NamedThing Fusobacteriales tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:203490 biolink:NamedThing Fusobacteriia tmpte7i6ely_mondo_relaxed.owl Fusobacteria GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017995 biolink:NamedThing spondylocostal dysostosis-hypospadias-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:329252|UMLS:CN204201 owl:Class MONDO:0015247 biolink:NamedThing opsoclonus-myoclonus syndrome Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. tmpte7i6ely_mondo_relaxed.owl opsoclonus-myoclonus-ataxia syndrome|Kinsbourne syndrome|paraneoplastic opsoclonus-myoclonus|opsoclonus myoclonus syndrome|oma syndrome|POMA syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|OMS|dancing eye syndrome|Ataxo-opso-myoclonus syndrome|dancing eye-dancing feet syndrome ICD9:379.59|GARD:0010009|ICD10:G25.3|EFO:1001383|UMLS:C0393626|SCTID:230350000|Orphanet:1183|NCIT:C4686|MESH:D053578|MedDRA:10053854 owl:Class MONDO:0014003 biolink:NamedThing developmental and epileptic encephalopathy, 15 tmpte7i6ely_mondo_relaxed.owl EIEE15|DEE15|epileptic encephalopathy, early infantile, type 15|epileptic encephalopathy, early infantile, 15 UMLS:C3554316|OMIM:615006|Orphanet:3451|DOID:0080414 owl:Class MONDO:0017101 biolink:NamedThing isolated focal cortical dysplasia type IIa tmpte7i6ely_mondo_relaxed.owl FCD type IIa ICD10:Q04.8|Orphanet:269001|OMIM:607341 owl:Class CHEBI:50996 biolink:NamedThing tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. tmpte7i6ely_mondo_relaxed.owl tertiary amino compounds owl:Class MONDO:0002739 biolink:NamedThing extrahepatic bile duct mucinous adenocarcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct mucinous adenocarcinoma|colloid adenocarcinoma of extrahepatic bile duct|bile duct colloid carcinoma|colloidal carcinoma of bile duct|mucinous adenocarcinoma of extrahepatic bile duct|colloidal bile duct adenocarcinoma|bile duct mucinous adenocarcinoma|colloid bile duct carcinoma|mucinous extrahepatic bile duct adenocarcinoma|mucinous adenocarcinoma of bile duct|colloid carcinoma of bile duct|colloidal extrahepatic bile duct adenocarcinoma|bile duct colloidal carcinoma|colloid adenocarcinoma of bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|colloidal adenocarcinoma of the bile duct|colloidal adenocarcinoma of bile duct|colloid adenocarcinoma of the extrahepatic bile duct|colloid extrahepatic bile duct adenocarcinoma|colloid bile duct adenocarcinoma|mucinous carcinoma of bile duct|mucinous bile duct adenocarcinoma|colloidal adenocarcinoma of extrahepatic bile duct|colloid adenocarcinoma of the bile duct|mucinous adenocarcinoma of the bile duct|colloidal adenocarcinoma of the extrahepatic bile duct|colloidal bile duct carcinoma|colloidal carcinoma of the bile duct|mucinous carcinoma of the bile duct|colloid carcinoma of the bile duct UMLS:C0861856|DOID:3698|NCIT:C5846 owl:Class MONDO:0020764 biolink:NamedThing Brown-Pearce carcinoma tmpte7i6ely_mondo_relaxed.owl epithelioma, Brown Pearce|Brown-Pearce carcinoma|Brown-Pearce tumor|carcinoma, Brown Pearce|Brown-Pearce epithelioma|carcinoma, Brown-Pearce|epithelioma, Brown-Pearce EFO:1001278|MESH:D002284|UMLS:C0007122 owl:Class HP:0000978 biolink:NamedThing Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. tmpte7i6ely_mondo_relaxed.owl Bruising susceptibility|Bruise easily|Easy bruising|Easy bruisability|Bruisability SNOMEDCT_US:425075004|UMLS:C0423798|MSH:D004438|SNOMEDCT_US:77643000|SNOMEDCT_US:424131007|SNOMEDCT_US:302227002|UMLS:C0013491 An ecchymosis is defined as being larger than 1 cm in size. HP:0007472|HP:0007433|HP:0000959 human_phenotype owl:Class MONDO:0033838 biolink:NamedThing radiation-induced plexopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:521123 owl:Class MONDO:0018314 biolink:NamedThing infantile-onset mesial temporal lobe epilepsy with severe cognitive regression A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. tmpte7i6ely_mondo_relaxed.owl Orphanet:391316|UMLS:CN204956|ICD10:G40.2 owl:Class UBERON:0005730 biolink:NamedThing pelvic appendage field tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002594 biolink:NamedThing smooth muscle cell of the umbilical artery A smooth muscle cell of the umbilical artery. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:01:48Z cell owl:Class UBERON:0011648 biolink:NamedThing jaw muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002376 biolink:NamedThing cranial muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021333 biolink:NamedThing carcinoma of lip A carcinoma that involves the lip. tmpte7i6ely_mondo_relaxed.owl carcinoma of the Lip|lip cancer|carcinoma of lip|lip carcinoma NCIT:C3490|UMLS:C0149637|SCTID:269515006 owl:Class GO:0001704 biolink:NamedThing formation of primary germ layer The formation of the ectoderm, mesoderm and endoderm during gastrulation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004737 biolink:NamedThing homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. tmpte7i6ely_mondo_relaxed.owl homocystinuria (disease)|homocystinuria|cystathionine beta synthase deficiency|CBS deficiency|cystathionine synthase deficiency homocystinuria (disease) NCIT:C84765|UMLS:C0019880|GARD:0010770|Orphanet:394|DOID:9263|SCTID:11282001|OMIM:236200|HP:0002156|OMIM:236250|ICD10:E72.11 owl:Class MONDO:0008087 biolink:NamedThing hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. tmpte7i6ely_mondo_relaxed.owl potato-grubbing palsy|heterozygous microdeletion 17p11.2p12|hereditary neuropathy with liability to pressure palsies|tulip-bulb digger's palsy|familial recurrent polyneuropathy|polyneuropathy, familial recurrent|Tomaculous neuropathy|HNPP|tomaculous neuropathy|hereditary neuropathy with liability to pressure palsy|current pressure-sensitive neuropathy|neuropathy, hereditary, with liability to pressure palsies OMIM:162500|MedDRA:10069382|Orphanet:640|ICD10:G60.0|GARD:0005221|SCTID:230558006|DOID:0060843|MESH:C536965 owl:Class MONDO:0022798 biolink:NamedThing Cohen lockood wyborney syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001423 https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome owl:Class MONDO:0024279 biolink:NamedThing chronic endometritis A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding. tmpte7i6ely_mondo_relaxed.owl endometritis, chronic|chronic endometritis UMLS:C0238104|SCTID:63922003|NCIT:C102820 owl:Class NCBITaxon:6308 biolink:NamedThing Strongylida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017114 biolink:NamedThing global cerebellar malformation tmpte7i6ely_mondo_relaxed.owl diffuse cerebellar malformation ICD10:Q04.3|Orphanet:269224 owl:Class MONDO:0006741 biolink:NamedThing encephalomalacia Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. tmpte7i6ely_mondo_relaxed.owl MedDRA:10051818|EFO:1000915|DOID:2034|SCTID:58762006|UMLS:C0014068|MESH:D004678|NCIT:C98920 owl:Class MONDO:0019208 biolink:NamedThing Bickerstaff brainstem encephalitis Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). tmpte7i6ely_mondo_relaxed.owl UMLS:C1960543|SCTID:427086003|ICD9:323.81|Orphanet:79138|ICD10:G61.0 owl:Class MONDO:0060591 biolink:NamedThing immunodeficiency, developmental delay, and hypohomocysteinemia tmpte7i6ely_mondo_relaxed.owl immunodeficiency, developmental delay, and hypohomocysteinemia|IMDDHH OMIM:617744|UMLS:C4540293 owl:Class UBERON:0010064 biolink:NamedThing open anatomical space tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4851 biolink:NamedThing HTT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011117 biolink:NamedThing iris pigment epithelium anomalies tmpte7i6ely_mondo_relaxed.owl ruffles and cysts of iris pigment epithelium|cysts of iris pigment epithelium|iris pigment epithelium anomalies OMIM:601616|UMLS:C1866608|MESH:C566651 owl:Class GO:0090206 biolink:NamedThing negative regulation of cholesterol metabolic process Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10069 biolink:NamedThing RNF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013136 biolink:NamedThing hereditary hypotrichosis with recurrent skin vesicles Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. tmpte7i6ely_mondo_relaxed.owl hypotrichosis and recurrent skin vesicles|hereditary hypotrichosis with recurrent skin vesicles Orphanet:217407|SCTID:724350009|UMLS:C2751292|OMIM:613102|MESH:C567751 owl:Class MONDO:0015951 biolink:NamedThing hereditary photodermatosis Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. tmpte7i6ely_mondo_relaxed.owl genetic photosensitivity|genetic skin photosensitivity|photogenodermatosis|photogénodermatose Orphanet:183490 owl:Class MONDO:0000930 biolink:NamedThing nodular malignant melanoma An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance. tmpte7i6ely_mondo_relaxed.owl nodular malignant skin melanoma|nodular cutaneous (skin) melanoma|nodular melanoma (morphologic abnormality)|nodular malignant melanoma of skin|nodular malignant melanoma of the skin|nodular melanoma SCTID:254731001|NCIT:C4225|EFO:0008515|DOID:10047|ICDO:8721/3|GARD:0009961|UMLS:C0334424 owl:Class CL:1000490 biolink:NamedThing mesothelial cell of peritoneum A mesothelial cell that is part of the peritoneum. tmpte7i6ely_mondo_relaxed.owl peritoneal mesothelial cell FMA:86736 cell owl:Class MONDO:0009349 biolink:NamedThing holoprosencephaly 1 The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. tmpte7i6ely_mondo_relaxed.owl cyclopia|holoprosencephaly type 1|isolated arhinencephaly|holoprosencephaly 1|HPE1|Hpe, familial|arhinencephaly|holoprosencephaly, familial Alobar|Demyer sequence OMIM:236100|Orphanet:2162|Orphanet:268936|ICD10:Q04.1|DOID:0110881|UMLS:C0079541|NCIT:C75476 owl:Class MONDO:0011164 biolink:NamedThing malignant hyperthermia, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl MHS6|malignant hyperthermia, susceptibility to, type 6|malignant hyperthermia susceptibility type 6|malignant hyperthermia, susceptibility to, 6|Mhs6|malignant hyperpyrexia susceptibility type 6 GARD:0003368|MESH:C535699|Orphanet:423|OMIM:601888 https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 owl:Class GO:0045132 biolink:NamedThing meiotic chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009412 biolink:NamedThing scurvy Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. tmpte7i6ely_mondo_relaxed.owl scurvy|vitamin C, inability to synthesize|L-gulonolactone oxidase, nonfunctional|L-gulonolactone oxidase pseudogene|Gulo, nonfunctional|scorbutus|vitamin C deficiency|deficiency of vitamin C|hypoascorbemia OMIM:240400|EFO:1001169|MedDRA:10039768|GARD:0010406|UMLS:C0036474|DOID:13724|MESH:D012614|NCIT:C35010|ICD10:E54|SCTID:76169001 An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. https://rarediseases.info.nih.gov/diseases/10406/scurvy owl:Class UBERON:0000000 biolink:NamedThing processual entity An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11247 biolink:NamedThing SPINT2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002350 biolink:NamedThing endocardial cell An endothelial cell that lines the intracavitary lumen of the heart, separating the circulating blood from the underlying myocardium. This cell type releases a number of vasoactive substances including prostacyclin, nitrous oxide and endothelin. tmpte7i6ely_mondo_relaxed.owl endocardial endothelial cell|endothelial cell of endocardium FMA:75621 tmeehan 2010-09-21T04:33:05Z CL:1000475 cell owl:Class MONDO:0010752 biolink:NamedThing VACTERL association, X-linked, with or without hydrocephalus tmpte7i6ely_mondo_relaxed.owl VACTERL association with hydrocephaly, X-linked|X-linked VACTERL-H syndrome|VACTERL-H, X-linked|VACTERL association, X-linked, with or without hydrocephalus|VACTERLX Orphanet:3412|UMLS:C2931228|OMIM:314390|DOID:0111766|GARD:0008498 owl:Class MONDO:0013866 biolink:NamedThing neuronal ceroid lipofuscinosis 11 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene. tmpte7i6ely_mondo_relaxed.owl GRN neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 11|ceroid lipofuscinosis, neuronal, 11|CLN11 disease|neuronal ceroid lipofuscinosis caused by mutation in GRN|ceroid lipofuscinosis, neuronal, type 11|CLN11|neuronal ceroid lipofuscinosis caused by mutation in Grn|Grn neuronal ceroid lipofuscinosis UMLS:C3539123|OMIM:614706|DOID:0110732|Orphanet:79262|ICD10:E75.4|Orphanet:314629 owl:Class MONDO:0007694 biolink:NamedThing hairy nose tip tmpte7i6ely_mondo_relaxed.owl hairy nose tip|HNT MESH:C535619|OMIM:139630|GARD:0008465 https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip owl:Class MONDO:0019924 biolink:NamedThing paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. tmpte7i6ely_mondo_relaxed.owl paternal UPD20|UPD(20)pat|paternal uniparental disomy of chromosome type 20|paternal UPD(20) ICD10:Q99.8|SCTID:715736008|Orphanet:96194|UMLS:C4275028 owl:Class MONDO:0700025 biolink:NamedThing chromosome 20 disorder Chromosomal disorder in which chromosome 20 is affected. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HP:0100034 biolink:NamedThing Motor tics Movement-based tics affecting discrete muscle groups. tmpte7i6ely_mondo_relaxed.owl UMLS:C0751900|MSH:D020323 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class HP:0011603 biolink:NamedThing Congenital malformation of the great arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries. tmpte7i6ely_mondo_relaxed.owl UMLS:C0478012 peter 2012-04-08T02:51:09Z human_phenotype owl:Class MONDO:0007134 biolink:NamedThing Cooks syndrome Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. tmpte7i6ely_mondo_relaxed.owl anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|Cooks syndrome|ODP|anonychia and absence/hypoplasia of distal phalanges OMIM:106995|MESH:C537766|Orphanet:1487|ICD10:Q84.6|GARD:0004083|SCTID:720747002|UMLS:C1862841 owl:Class UBERON:0009205 biolink:NamedThing lateral nasal process mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:147387 biolink:NamedThing Poeae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016988 biolink:NamedThing hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1). tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455|ICD10:E16.1|UMLS:C4274078|SCTID:717048002 owl:Class ENVO:01001026 biolink:NamedThing electromagnetic radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. tmpte7i6ely_mondo_relaxed.owl EM radiation owl:Class MONDO:0022983 biolink:NamedThing Dieterich disease tmpte7i6ely_mondo_relaxed.owl Dieterich's disease|avascular necrosis of the metacarpal head|Dieterich disease GARD:0000204|UMLS:C2931124|MESH:C536172 https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease owl:Class HGNC:388 biolink:NamedThing AKR1D1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025149 biolink:NamedThing encephalopathy, bovine spongiform A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5) tmpte7i6ely_mondo_relaxed.owl bovine spongiform encephalopathy|BSE (bovine spongiform encephalopathy)|bovine spongiform encephalitis|BSEs (bovine spongiform encephalopathy)|spongiform encephalopathy, bovine|Mad cow diseases|Mad cow disease|encephalitis, bovine spongiform MESH:D016643 owl:Class NCBITaxon:46580 biolink:NamedThing Spirometra tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001702 biolink:NamedThing Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. tmpte7i6ely_mondo_relaxed.owl Abnormality of the tricuspid valve UMLS:C4025753|EPCC:06.01.00 HP:0031440 human_phenotype owl:Class HP:0006705 biolink:NamedThing Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. tmpte7i6ely_mondo_relaxed.owl Abnormality of the atrioventricular valves UMLS:C4024995 peter 2008-03-29T03:34:00Z HP:0006675 human_phenotype owl:Class MONDO:0008969 biolink:NamedThing cholesterol pneumonia tmpte7i6ely_mondo_relaxed.owl cholesterol pneumonia|familiaere cholesterin-Pneumonie UMLS:C0549472|GARD:0008500|MESH:C535937|ICD9:516.8|OMIM:215030|SCTID:233728004 https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia owl:Class MONDO:0033658 biolink:NamedThing neurodevelopmental disorder with seizures and brain atrophy tmpte7i6ely_mondo_relaxed.owl NEDSEBA OMIM:619072 owl:Class MONDO:0006950 biolink:NamedThing retinal vasculitis Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. tmpte7i6ely_mondo_relaxed.owl retinal vasculitis EFO:1001156|MESH:D031300|MedDRA:10038905|SCTID:77628002|DOID:11563|ICD10:H35.06|ICD9:362.18|UMLS:C0152026 owl:Class HGNC:7583 biolink:NamedThing MYL2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015085 biolink:NamedThing calcium ion transmembrane transporter activity Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023066 biolink:NamedThing enchondromatosis dwarfism deafness tmpte7i6ely_mondo_relaxed.owl Wallis cremin Beighton syndrome GARD:0000294 https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness owl:Class MONDO:0021102 biolink:NamedThing prostate phyllodes tumor An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma. tmpte7i6ely_mondo_relaxed.owl prostate phyllodes neoplasm|prostate gland phyllodes tumor|phyllodes neoplasm of the prostate|prostate phyllodes tumor|cystosarcoma phyllodes of the prostate|phyllodes tumor of the prostate|phyllodes neoplasm of prostate|malignant phyllodes tumor of prostate (subtype)|cystosarcoma phyllodes of prostate|prostate cystosarcoma phyllodes|phyllodes tumor of prostate UMLS:C1335409|Orphanet:498228|NCIT:C7574|GARD:0009404 owl:Class MONDO:0012364 biolink:NamedThing dilated cardiomyopathy 1Q A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy type 1Q|CMD1Q|cardiomyopathy, dilated, 1Q UMLS:C1835926|OMIM:609915|ICD10:I42.0|DOID:0110442|MESH:C563688 owl:Class HP:0004431 biolink:NamedThing Complement deficiency An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:24743004|UMLS:C0272242 peter 2008-03-18T09:51:00Z human_phenotype owl:Class MONDO:0025457 biolink:NamedThing pulmonary adenomatosis, ovine A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus. tmpte7i6ely_mondo_relaxed.owl Ovine pulmonary adenomatosis|pulmonary Ovine Adenomatoses|Ovine pulmonary carcinoma|Ovine pulmonary Adenomatoses|adenomatosis, Ovine pulmonary|pulmonary carcinoma, Ovine|pulmonary Ovine adenomatosis|adenomatosis, pulmonary, Ovine|Adenomatoses, Ovine pulmonary|Ovine adenomatosis, pulmonary|Jaagsiekte|pulmonary Adenomatoses, Ovine|Ovine pulmonary carcinomas|carcinoma, Ovine pulmonary|carcinomas, Ovine pulmonary|pulmonary carcinomas, Ovine|Adenomatoses, pulmonary Ovine|adenomatosis, pulmonary Ovine|Ovine Adenomatoses, pulmonary MESH:D011648|UMLS:C0034049 owl:Class MONDO:0017471 biolink:NamedThing congenital patella dislocation tmpte7i6ely_mondo_relaxed.owl congenital patellar dislocation|congenital dislocation of the patella Orphanet:295036|ICD10:Q74.1|SCTID:205067002|GARD:0009692|MESH:C538081 https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella owl:Class CHEBI:52396 biolink:NamedThing alpha-oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. tmpte7i6ely_mondo_relaxed.owl alpha-oxyketones owl:Class NCBITaxon:715962 biolink:NamedThing dothideomyceta tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class IAO:8000006 biolink:NamedThing subset ontology module An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms. tmpte7i6ely_mondo_relaxed.owl ontology slim|subset ontology subset ontology module owl:Class MONDO:0012125 biolink:NamedThing hypomyelinating leukodystrophy 2 Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. tmpte7i6ely_mondo_relaxed.owl Pelizaeus-Merzbacher-like disease due to GJC2 mutation|HLD2|hypomyelinating leukodystrophy type 2|leukodystrophy, hypomyelinating, type 2|leukodystrophy, hypomyelinating, 2|Pelizaeus-Merzbacher-like disease 1|leukodystrophy caused by mutation in GJC2|GJC2 leukodystrophy|Pelizaeus-Merzbacher-like disease, 1|PMLD1 ICD10:E75.2|DOID:0060787|UMLS:C1837355|Orphanet:280270|OMIM:608804|MESH:C563855|Orphanet:280282 owl:Class MONDO:0021764 biolink:NamedThing acrofacial dysostosis preis type Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl GARD:0000495 https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type owl:Class HGNC:2518 biolink:NamedThing CTNS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001513 biolink:NamedThing pulsating exophthalmos tmpte7i6ely_mondo_relaxed.owl ICD10:H05.26|ICD9:376.35|SCTID:2284002|DOID:12364|UMLS:C0155271 owl:Class NCBITaxon:1783272 biolink:NamedThing Terrabacteria group tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:18988685|PMID:23851394 ncbi_taxonomy owl:Class MONDO:0019398 biolink:NamedThing desmin-related myopathy with Mallory body-like inclusions tmpte7i6ely_mondo_relaxed.owl early-onset desmin-related myopathy Orphanet:84132|ICD10:G71.8|OMIM:602771 owl:Class MONDO:0020974 biolink:NamedThing laryngeal granuloma A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX. tmpte7i6ely_mondo_relaxed.owl Laryngeal granuloma|Granulomas, Laryngeal|Laryngeal Granulomas|Granuloma, Laryngeal|Larynx Granulomas|Granuloma of Larynx|Laryngeal Granuloma|Larynx Granuloma|laryngeal granuloma UMLS:C0018196|ICD9:478.79|MESH:D006102|SCTID:72211003 owl:Class MONDO:0019016 biolink:NamedThing maternally-inherited progressive external ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl maternally-inherited CPEO|maternally-inherited chronic progressive external ophthalmoplegia ICD10:H49.4|Orphanet:663|UMLS:CN924917 owl:Class MONDO:0700066 biolink:NamedThing myopathy caused by variation in FKRP Any myopathy in which the cause of the disease is a variation in the FKRP gene. tmpte7i6ely_mondo_relaxed.owl myopathy caused by mutation in FKRP|FKRP-related myopathy|FKRP myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016157 biolink:NamedThing qualitative or quantitative defects of fukutin tmpte7i6ely_mondo_relaxed.owl Orphanet:207122 owl:Class MONDO:0006237 biolink:NamedThing granulocytic sarcoma A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl granulocytic sarcoma|sarcoma, granulocytic, malignant NCIT:C35815|EFO:1000286 owl:Class GO:0043231 biolink:NamedThing intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl intracellular membrane-enclosed organelle owl:Class HGNC:28570 biolink:NamedThing DNAAF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019127 biolink:NamedThing polymyositis Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. tmpte7i6ely_mondo_relaxed.owl PM|polymyositis SCTID:31384009|EFO:0003063|ICD10:M33.2|Orphanet:732|GARD:0007425|ICD9:710.4|Wikipedia:Polymyositis|MedDRA:10036102|UMLS:C0085655|MESH:D017285|NCIT:C26925 owl:Class MONDO:0015316 biolink:NamedThing congenital laryngeal palsy Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. tmpte7i6ely_mondo_relaxed.owl congenital vocal cord paralysis UMLS:C0396058|Orphanet:137932|GARD:0012713|ICD10:J38.0 https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy owl:Class MONDO:0017399 biolink:NamedThing frontotemporal dementia, right temporal atrophy variant Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. tmpte7i6ely_mondo_relaxed.owl rvFTD|RTLA SCTID:716667005|Orphanet:293848|UMLS:CN203142|ICD10:G31.0|OMIM:600274 owl:Class MONDO:0020424 biolink:NamedThing intramural coronary arterial course Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death. tmpte7i6ely_mondo_relaxed.owl Orphanet:99088|ICD10:Q24.5 owl:Class MONDO:0033091 biolink:NamedThing ichthyosis, congenital, autosomal recessive 14 tmpte7i6ely_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 14|ARCI14|autosomal recessive congenital ichthyosis 14 DOID:0080258|OMIM:617571|UMLS:CN317536 owl:Class MONDO:0100359 biolink:NamedThing herpes simplex type 1 infectious disease A disease caused by infection with herpes simplex type 1. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0016840 biolink:NamedThing trisomy 17p Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. tmpte7i6ely_mondo_relaxed.owl trisomy type 17p|chromosome 17p duplication|dup(17p)|partial trisomy 17p|17p duplication|17p trisomy|Duplication 17p GARD:0005318|Orphanet:261290|ICD10:Q92.2|UMLS:C0795865|MESH:C538048|SCTID:717049005 owl:Class CHEBI:33247 biolink:NamedThing organic group Any substituent group or skeleton containing carbon. tmpte7i6ely_mondo_relaxed.owl organic groups owl:Class MONDO:0016752 biolink:NamedThing benign peripheral nerve sheath tumor tmpte7i6ely_mondo_relaxed.owl BPNST UMLS:CN202000|Orphanet:252131 Editor note: consider relationship to granular cell tumor owl:Class UBERON:0012278 biolink:NamedThing gland of nasal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019443 biolink:NamedThing dextro-looped transposition of the great arteries Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. tmpte7i6ely_mondo_relaxed.owl congenitally uncorrected transposition of the great arteries|isolated ventriculoarterial discordance|ventriculoarterial discordance with atrioventricular concordance|D-TGA|DTGA|congenitally uncorrected transposition of the great vessels ICD10:Q20.3|OMIM:608808|OMIM:613854|Orphanet:860|OMIMPS:608808|DOID:0060770 owl:Class MONDO:0003723 biolink:NamedThing blunt duct adenosis of breast Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia. tmpte7i6ely_mondo_relaxed.owl breast blunt duct adenosis|blunt duct adenosis of the breast DOID:5996|UMLS:C1332573|NCIT:C6941 owl:Class MONDO:0002814 biolink:NamedThing adrenal carcinoma A carcinoma involving a adrenal gland. tmpte7i6ely_mondo_relaxed.owl carcinoma of the adrenal gland|carcinoma of adrenal gland|adrenal gland carcinoma DOID:3950 owl:Class MONDO:0002878 biolink:NamedThing uterine corpus adenosarcoma A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection. tmpte7i6ely_mondo_relaxed.owl adenosarcoma of the body of uterus|adenosarcoma of uterine body|uterine corpus Mullerian adenosarcoma|adenosarcoma of the uterine corpus|Mullerian adenosarcoma of the uterus|adenosarcoma of the corpus uteri|uterine body adenosarcoma|adenosarcoma of body of uterus|body of uterus adenosarcoma|uterine adenosarcoma|uterine corpus Müllerian adenosarcoma|adenosarcoma of uterine corpus|adenosarcoma of the uterus|uterine corpus adenosarcoma|adenosarcoma of the uterine body|uterine corpus mullerian adenosarcoma UMLS:C1336917|ONCOTREE:UAS|MESH:C538232|GARD:0009636|Orphanet:213600|ICD10:C54.2|DOID:4113|NCIT:C6336|UMLS:CN201046 Editor note: check ONCOTREE mapping https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus owl:Class UBERON:0004444 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:451870 biolink:NamedThing Chaetothyriomycetidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147545 biolink:NamedThing Eurotiomycetes tmpte7i6ely_mondo_relaxed.owl Loculoascomycetes|bitunicate ascomycetes|Plectomycetes GC_ID:1 NCBITaxon:147540 ncbi_taxonomy owl:Class MONDO:0032820 biolink:NamedThing neurodevelopmental disorder with structural brain anomalies and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES|NEDBAF OMIM:618577 owl:Class MONDO:0012264 biolink:NamedThing preeclampsia/eclampsia 2 tmpte7i6ely_mondo_relaxed.owl PEE2|PREECLAMPSIA/eclampsia 2 OMIM:609402|UMLS:C1836257|Orphanet:275555 owl:Class GO:1900118 biolink:NamedThing negative regulation of execution phase of apoptosis Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. tmpte7i6ely_mondo_relaxed.owl down regulation of execution phase of apoptosis|downregulation of execution phase of apoptosis|inhibition of execution phase of apoptosis|down-regulation of execution phase of apoptosis owl:Class MONDO:0006607 biolink:NamedThing sebaceous gland disorder A disease involving the sebaceous gland. tmpte7i6ely_mondo_relaxed.owl disorder of sebaceous gland|disease of sebaceous glands|disease or disorder of sebaceous gland|disease of sebaceous gland|sebaceous gland disease|sebaceous gland disease or disorder MESH:D012625|ICD9:706.1|SCTID:3441005|UMLS:C0036502|ICD10:L70.8|DOID:9098|EFO:1000763 owl:Class MONDO:0008655 biolink:NamedThing vestibulocochlear dysfunction, progressive tmpte7i6ely_mondo_relaxed.owl vestibulocochlear dysfunction, progressive|familial progressive vestibulocochlear dysfunction MESH:C536346|OMIM:193005|UMLS:C2931176|GARD:0005489 https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive owl:Class MONDO:0003935 biolink:NamedThing oncocytic breast carcinoma A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. tmpte7i6ely_mondo_relaxed.owl oncocytic breast carcinoma NCIT:C40366|DOID:6585|UMLS:C1518574 owl:Class HP:0011389 biolink:NamedThing Functional abnormality of the inner ear An abnormality of the function of the inner ear. tmpte7i6ely_mondo_relaxed.owl Functional abnormality of the inner ear UMLS:C4023382 The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. hecht 2012-03-09T04:58:30Z human_phenotype owl:Class MONDO:0021739 biolink:NamedThing prurigo A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl Itchy skin eruption|pruritic rash|Prurigo|Pruritic rash|itchy skin eruption|prurigo MESH:D011536|ICD9:698.8|UMLS:C0033771|ICD9:698.2|SCTID:64144002 owl:Class UBERON:8300001 biolink:NamedThing right forelimb tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:25699 biolink:NamedThing organic ion tmpte7i6ely_mondo_relaxed.owl organic ions owl:Class UBERON:0003076 biolink:NamedThing posterior neural tube tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24415 biolink:NamedThing BOLA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007805 biolink:NamedThing hypotrichosis 2 Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene. tmpte7i6ely_mondo_relaxed.owl hypotrichosis, Spanish type|hypotrichosis caused by mutation in CDSN|CDSN hypotrichosis|hypotrichosis type 2|hypotrichosis 2|Htss|Spanish type hypotrichosis|HYPT2|hypt2|hypotrichosis simplex of the scalp 1 DOID:0110699|MESH:C564143|Orphanet:90368|OMIM:146520 owl:Class MONDO:0024387 biolink:NamedThing benign ovarian sex cord-stromal tumor A sex cord-stromal tumor arising from the ovary, without metastatic potential. tmpte7i6ely_mondo_relaxed.owl benign Sex cord-stromal tumor of the ovary|benign Sex cord-stromal neoplasm of ovary|Sex cord stromal tumor, benign|benign ovarian Sex cord-stromal neoplasm|benign ovarian Sex cord-stromal tumor|benign Sex cord-stromal neoplasm of the ovary|ovarian sex cord-stromal tumor, benign|benign Sex cord-stromal tumor of ovary|ovarian SEX cord-stromal tumor, benign NCIT:C6803|UMLS:C1332528|DOID:0080370 owl:Class MONDO:0013527 biolink:NamedThing lissencephaly 4 Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene. tmpte7i6ely_mondo_relaxed.owl NDE1 lissencephaly (disease)|lissencephaly 4, with microcephaly|lissencephaly type 4|lissencephaly 4 with microcephaly|lissencephaly 4|lissencephaly (disease) caused by mutation in NDE1|LIS4 UMLS:C3151461|Orphanet:1083|OMIM:614019 owl:Class MONDO:0060641 biolink:NamedThing neurodevelopmental disorder with or without seizures and gait abnormalities tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with or without seizures and gait abnormalities|NEDSGA UMLS:CN800195|OMIM:617864 owl:Class MONDO:0004364 biolink:NamedThing choroid necrotic melanoma tmpte7i6ely_mondo_relaxed.owl necrotic melanoma of the choroid|necrotic choroid melanoma|necrotic melanoma of choroid|choroid necrotic melanoma UMLS:C1333026|DOID:7807|NCIT:C6865 owl:Class MONDO:0016243 biolink:NamedThing hemoglobin E disease Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. tmpte7i6ely_mondo_relaxed.owl Hb-E disease|hemoglobin E disease Orphanet:2133|ICD10:D58.2|GARD:0002641|NCIT:C35287|SCTID:25065001|ICD9:282.7|MedDRA:10053215|DOID:5379|UMLS:C0238159 https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease owl:Class GO:0010884 biolink:NamedThing positive regulation of lipid storage Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpte7i6ely_mondo_relaxed.owl positive regulation of lipid sequestration owl:Class MONDO:0015579 biolink:NamedThing Hb Bart's hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. tmpte7i6ely_mondo_relaxed.owl Hemoglobin Bart's hydrops fetalis|Alpha-thalassemia major|Alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia ICD9:282.49|SCTID:5300004|ICD10:D56.0|OMIM:236750|Orphanet:163596 owl:Class MONDO:0018878 biolink:NamedThing branchiootic syndrome Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). tmpte7i6ely_mondo_relaxed.owl branchiootic dysplasia|bo syndrome|bor DOID:0060232|OMIM:608389|GARD:0010148|UMLS:CN205225|Orphanet:52429|SCTID:764810000|OMIM:120502|OMIM:602588|ICD10:Q87.0 owl:Class MONDO:0006797 biolink:NamedThing hypertensive retinopathy Retinopathy due to hypertension. tmpte7i6ely_mondo_relaxed.owl MedDRA:10020839|MESH:D058437|DOID:11561|UMLS:C0152132|EFO:1000977|NCIT:C3514|ICD10:H35.03|ICD9:362.11|SCTID:6962006 owl:Class GO:0120254 biolink:NamedThing olefinic compound metabolic process The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). tmpte7i6ely_mondo_relaxed.owl alkene substituted compound metabolic process|alkene substituted compound metabolism owl:Class CL:0002572 biolink:NamedThing vertebral mesenchymal stem cell A mesenchymal stem cell of the vertebrae. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-01T10:40:27Z cell owl:Class MONDO:0018496 biolink:NamedThing ARX-related encephalopathy-brain malformation spectrum tmpte7i6ely_mondo_relaxed.owl Orphanet:423655 owl:Class MONDO:0012626 biolink:NamedThing Meckel syndrome, type 4 Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpte7i6ely_mondo_relaxed.owl MKS4|Meckel syndrome 4|Meckel syndrome, type 4|Meckel-Gruber syndrome, type 4|Meckel-like Cerebrorenodigital syndrome|Meckel syndrome caused by mutation in CEP290|CEP290 Meckel syndrome UMLS:C1970161|ICD10:Q61.9|DOID:0070118|Orphanet:564|OMIM:611134 owl:Class CHEBI:48359 biolink:NamedThing protophilic solvent Solvent that is capable of acting as a hydron (proton) acceptor. tmpte7i6ely_mondo_relaxed.owl HBA solvent|hydrogen bond acceptor solvent|protophilic solvent owl:Class CHEBI:48354 biolink:NamedThing polar solvent A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds. tmpte7i6ely_mondo_relaxed.owl polar solvents|polar solvent owl:Class CL:0001082 biolink:NamedThing immature innate lymphoid cell An innate lyphoid cell with an immature phenotype. tmpte7i6ely_mondo_relaxed.owl immature ILC owl:Class UBERON:0005870 biolink:NamedThing olfactory pit tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:63048 biolink:NamedThing 1,3-thiazolium cation An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole. tmpte7i6ely_mondo_relaxed.owl 1,3-thiazolium cations owl:Class CHEBI:35479 biolink:NamedThing alkali metal salt tmpte7i6ely_mondo_relaxed.owl alkali metal salts owl:Class MONDO:0100060 biolink:NamedThing congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes. tmpte7i6ely_mondo_relaxed.owl NCIT:C178232 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016696 biolink:NamedThing anaplastic oligodendroglioma A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). tmpte7i6ely_mondo_relaxed.owl WHO grade III oligodendroglial neoplasm|oligodendroglioma, anaplastic, malignant|malignant oligodendroglioma|oligodendroglioma, malignant|WHO grade III oligodendroglial tumor|anaplastic oligodendroglioma|undifferentiated oligodendroglioma ONCOTREE:AODG|OMIM:137800|ICD10:C71.9|UMLS:C0334590|MedDRA:10026659|EFO:0002501|GARD:0009472|Orphanet:251630|NCIT:C4326|ICD10:C79.1|OMIM:616568|ICDO:9451/3 https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma owl:Class MONDO:0005347 biolink:NamedThing hypertriglyceridemia A laboratory test result indicating elevated triglyceride concentration in the blood. tmpte7i6ely_mondo_relaxed.owl hypertriglyceridemia|hypertriglyceridemia (disease) hypertriglyceridemia (disease) EFO:0004211|NCIT:C37971|UMLS:C0020557|MESH:D015228|HP:0002155|SCTID:302870006 owl:Class MONDO:0010842 biolink:NamedThing multiple cutaneous and mucosal venous malformations Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. tmpte7i6ely_mondo_relaxed.owl cutaneous and mucosal venous malformation|VMCM|VENOUS malformations, multiple cutaneous and mucosal|mucocutaneous venous malformations|Vmcm1 Orphanet:2451|SCTID:699301008|DOID:0050792|ICD10:Q27.8|OMIM:600195|MESH:C563977 owl:Class MONDO:0019955 biolink:NamedThing GRFoma 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1). tmpte7i6ely_mondo_relaxed.owl Growth hormone releasing factor tumor|GRF tumor UMLS:CN206877|Orphanet:97261|ICD10:E16.8 owl:Class HGNC:10706 biolink:NamedThing SEC24D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024555 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 1 tmpte7i6ely_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts 1|Van Der Knaap disease|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|leukoencephalopathy with swelling and cysts|VL|MLC1|Lvm Orphanet:2478|DOID:0080316|OMIM:604004 owl:Class MONDO:0011391 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. tmpte7i6ely_mondo_relaxed.owl megalencephaly-cystic leukodystrophy syndrome|Van der Knaap syndrome|megalencephaly-cystic leukodystrophy|megalencephalic leukodystrophy|megalencephalic leukoencephalopathy with subcortical cysts type 1|megalencephalic leukoencephalopathy with subcortical cysts 1|MLC1|MLC|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts GARD:0003445|SCTID:703536004|MESH:C536141|UMLS:CN176898|DOID:0080315|OMIM:613925|OMIM:613926|OMIM:604004|Orphanet:2478|ICD10:E75.2 https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts owl:Class CHEBI:26677 biolink:NamedThing silicon molecular entity tmpte7i6ely_mondo_relaxed.owl silicon molecular entities|silicon compounds|silicon molecular entity owl:Class ENVO:09000015 biolink:NamedThing amount of nitrogen atom in water The amount of a nitrogen atom when measured in water. tmpte7i6ely_mondo_relaxed.owl water nitrogen atom amount owl:Class ENVO:09000013 biolink:NamedThing amount of nitrogen atom in environmental material The amount of a nitrogen atom when measured in environmental material. tmpte7i6ely_mondo_relaxed.owl environmental material nitrogen atom amount owl:Class MONDO:0011260 biolink:NamedThing pancreatic lymphoma, familial An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary pancreas lymphoma|pancreatic lymphoma, familial OMIM:602596|MESH:C566516|UMLS:C1865139 owl:Class MONDO:0011798 biolink:NamedThing hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration tmpte7i6ely_mondo_relaxed.owl harp syndrome|hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration UMLS:C1846582|MESH:C564603|OMIM:607236|Orphanet:157855 owl:Class MONDO:0054770 biolink:NamedThing orofaciodigital syndrome 18 tmpte7i6ely_mondo_relaxed.owl OFD18|Ofds 18|orofaciodigital syndrome XVIII|oral-Facial-digital syndrome, type 18 UMLS:CN244546|OMIM:617927 owl:Class CHEBI:64996 biolink:NamedThing EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33). tmpte7i6ely_mondo_relaxed.owl 15-lipoxygenase inhibitors|linoleic acid omega(6)-lipoxygenase inhibitors|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitors|15-LOX inhibitors|EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitors|EC 1.13.11.33 inhibitor|arachidonate 15-lipoxygenase inhibitor|arachidonate:oxygen 15-oxidoreductase inhibitor|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitor|linoleic acid omega(6)-lipoxygenase inhibitor|EC 1.13.11.33 inhibitors|omega(6) lipoxygenase inhibitors|arachidonate:oxygen 15-oxidoreductase inhibitors|omega(6) lipoxygenase inhibitor|arachidonate 15-lipoxygenase inhibitors|15-lipoxygenase inhibitor|15-LOX inhibitor owl:Class CHEBI:35856 biolink:NamedThing lipoxygenase inhibitor A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes. tmpte7i6ely_mondo_relaxed.owl lipoxygenase inhibitors|lipooxygenase inhibitor owl:Class CL:0002605 biolink:NamedThing astrocyte of the cerebral cortex An astrocyte of the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T06:57:36Z cell owl:Class CL:1001579 biolink:NamedThing cerebral cortex glial cell Glial cell of cerebral cortex. tmpte7i6ely_mondo_relaxed.owl brain cortex glial cell|cerebrum cortex glial cell|cerebral cortex glial cells CALOHA:TS-1256 owl:Class MONDO:0002640 biolink:NamedThing optic nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas. tmpte7i6ely_mondo_relaxed.owl tumor of cranial nerve II|tumour of optic nerve|cranial nerve II neoplasm|neoplasms, second cranial nerve|neoplasm of second cranial nerve|cranial nerve II tumor|neoplasm of the second cranial nerve|second cranial nerve neoplasms|tumor of optic nerve|neoplasm of the optic nerve|tumor of the second cranial nerve|second cranial nerve neoplasm|cranial nerve II neoplasms|optic nerve neoplasms|tumor of the optic nerve|neoplasms, optic nerve|second cranial nerve tumor|optic nerve tumor|optic nerve neoplasm|neoplasm of optic nerve|tumor of second cranial nerve|neoplasm of cranial nerve II|cranial nerve II neoplasm (disease) DOID:3419|NCIT:C4801|UMLS:C0524802|ICD9:239.7|SCTID:395505000|MESH:D019574|EFO:1001073 owl:Class MONDO:0008213 biolink:NamedThing pectus excavatum A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. tmpte7i6ely_mondo_relaxed.owl pectus excavatum (disease)|funnel chest|pectus excavatum pectus excavatum (disease) MESH:D005660|HP:0000767|OMIM:169300|SCTID:391987005|ICD9:754.81 owl:Class UBERON:0013699 biolink:NamedThing strand of axillary hair tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015389 biolink:NamedThing supernumerary nostril Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. tmpte7i6ely_mondo_relaxed.owl accessory nostril|supernumerary naris HP:0009934|SCTID:719163006|Orphanet:141096|ICD10:Q30.8|UMLS:CN226671 owl:Class HGNC:5201 biolink:NamedThing HS6ST1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:10232 biolink:NamedThing Acanthocephala tmpte7i6ely_mondo_relaxed.owl thorny-headed worms|spiny-headed worms|Acanthocephala|acanthocephalans GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1206795 biolink:NamedThing Lophotrochozoa tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015351 biolink:NamedThing neuropathy with hearing impairment This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl UMLS:CN199414|SCTID:723497003|ICD10:G60.8|Orphanet:139512 owl:Class NCBITaxon:27871 biolink:NamedThing Plagiorchiida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6179 biolink:NamedThing Digenea tmpte7i6ely_mondo_relaxed.owl Digenea|flukes GC_ID:1 ncbi_taxonomy owl:Class PATO:0001987 biolink:NamedThing saccular A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. tmpte7i6ely_mondo_relaxed.owl sacular owl:Class MONDO:0019513 biolink:NamedThing esophageal malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:88993 owl:Class MONDO:0020019 biolink:NamedThing digestive tract malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98039 owl:Class MONDO:0001867 biolink:NamedThing phaeohyphomycosis An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions. tmpte7i6ely_mondo_relaxed.owl phaehyphomycosis|infection by dematiacious fungi [Phaehyphomycosis]|infection by dematiacious fungi SCTID:47158003|GARD:0012803|MESH:D060446|DOID:14049|ICD9:117.8 https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis owl:Class MONDO:0012010 biolink:NamedThing coronary heart disease, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl Chds4|coronary heart disease, susceptibility to, type 4|coronary heart disease, susceptibility to, 4 UMLS:C1842258|OMIM:608318 owl:Class MONDO:0020431 biolink:NamedThing juxtaposition of the atrial appendages Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases. tmpte7i6ely_mondo_relaxed.owl juxtaposition of the atrial auricles ICD10:Q20.8|Orphanet:99100 owl:Class GO:0045905 biolink:NamedThing positive regulation of translational termination Any process that activates or increases the frequency, rate or extent of translational termination. tmpte7i6ely_mondo_relaxed.owl upregulation of translational termination|up-regulation of translational termination|up regulation of translational termination|stimulation of translational termination|activation of translational termination owl:Class HGNC:8790 biolink:NamedThing PDE6H tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016499 biolink:NamedThing acute pandysautonomia Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. tmpte7i6ely_mondo_relaxed.owl acute panautonomic neuropathy|acute panautonomic Guillain-Barré syndrome|acute panautonomic GBS|acute panautonomic Guillain-BarrC) syndrome UMLS:C2315246|SCTID:430042004|ICD10:G61.0|Orphanet:231457 owl:Class MONDO:0016495 biolink:NamedThing functional variant of Guillain-Barre syndrome tmpte7i6ely_mondo_relaxed.owl functional variant of GBS|functional variant of Guillain-Barré syndrome ICD10:G61.0|UMLS:CN201497|Orphanet:231419 owl:Class UBERON:0013069 biolink:NamedThing popliteal area tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8527 biolink:NamedThing OXCT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021476 biolink:NamedThing benign neoplasm of tongue A benign neoplasm that involves the tongue. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the tongue|benign tongue tumor|tongue neoplasm, benign|tongue benign neoplasm|benign tumor of tongue|benign tongue neoplasm|benign tumor of the tongue ICD9:210.1|UMLS:C0153933|NCIT:C3592|SCTID:92443005|ICD10:D10.1 owl:Class MONDO:0017462 biolink:NamedThing congenital pseudoarthrosis of the tibia A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1. tmpte7i6ely_mondo_relaxed.owl congenital pseudarthrosis of the tibia|congenital pseudarthrosis of tibia Orphanet:295018|NCIT:C132080|ICD10:Q74.2|UMLS:C0265661|SCTID:55379003 owl:Class HGNC:10872 biolink:NamedThing ST3GAL5 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010847 biolink:NamedThing ulna pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003351 biolink:NamedThing Decreased circulating renin level An decreased level of renin in the blood. tmpte7i6ely_mondo_relaxed.owl Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity UMLS:C1845206 HP:0003263 human_phenotype owl:Class HP:0040084 biolink:NamedThing Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating renin|Abnormal plasma renin UMLS:C4021038 HPO:skoehler human_phenotype owl:Class MONDO:0007360 biolink:NamedThing branchiootic syndrome 2 tmpte7i6ely_mondo_relaxed.owl branchiootic syndrome 2|branchiootic syndrome type 2|bo syndrome 2 Orphanet:52429|OMIM:120502|UMLS:C1852718|MESH:C565171 owl:Class MONDO:0018224 biolink:NamedThing hydroa vacciniforme-like lymphoma A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. tmpte7i6ely_mondo_relaxed.owl HVLL|angiocentric cutaneous T-cell lymphoma of childhood|hydroa vacciniforme-like lymphoma|hydroa vacciniforme-like lymphoproliferative disorder|hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma|hV-like lymphoma UMLS:C1708397|ICDO:9725/3|Orphanet:364039|SCTID:763719001|NCIT:C45327|ICD10:C84.5 owl:Class MONDO:0009856 biolink:NamedThing Peters plus syndrome An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. tmpte7i6ely_mondo_relaxed.owl Peters anomaly-short limb dwarfism syndrome|Krause-Kivlin syndrome|Krause-van Schooneveld-Kivlin syndrome|Peters anomaly with short limb dwarfism|Peters-plus syndrome|Peters anomaly with short-limb dwarfism ICD9:743.44|OMIM:261540|MESH:C537617|ICD10:Q13.4|SCTID:449817000|DOID:0070312|UMLS:C0796012|GARD:0008422|NCIT:C123436|Orphanet:709|DOID:0080201 https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome owl:Class MONDO:0018254 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor type tmpte7i6ely_mondo_relaxed.owl Orphanet:370015|ICD10:Q77.8 owl:Class HGNC:26034 biolink:NamedThing SDHAF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021285 biolink:NamedThing carcinoma in situ of urethra A in situ carcinoma that involves the urethra. tmpte7i6ely_mondo_relaxed.owl urethra carcinoma in situ|stage 0is carcinoma of urethra|urethra in situ carcinoma|stage 0is urethral carcinoma|stage 0is carcinoma of the urethra|carcinoma in situ of urethra|urethral carcinoma in situ|stage 0is urethra carcinoma|carcinoma in situ of the urethra|stage 0is urethral cancer|stage 0 urethra carcinoma|stage 0is urethral cancer aJCC v7 ICD9:233.9|NCIT:C4531|SCTID:92784007|UMLS:C0346280 owl:Class MONDO:0018143 biolink:NamedThing pyruvate carboxylase deficiency, benign type Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. tmpte7i6ely_mondo_relaxed.owl pyruvate carboxylase deficiency type C UMLS:CN204540|ICD10:E74.4|Orphanet:353320|OMIM:266150 owl:Class MONDO:0054771 biolink:NamedThing keratoconus 9 tmpte7i6ely_mondo_relaxed.owl keratoconus 9|KTCN9 OMIM:617928|UMLS:CN244547 owl:Class MONDO:0022899 biolink:NamedThing crawfurd syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001607 https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome owl:Class MONDO:0009362 biolink:NamedThing growth delay-hydrocephaly-lung hypoplasia syndrome Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. tmpte7i6ely_mondo_relaxed.owl game Friedman Paradice syndrome|hydrocephalus with associated malformations|game-Friedman-Paradice syndrome|retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities MESH:C535406|ICD10:Q87.8|OMIM:236640|GARD:0002427|UMLS:C1856052|Orphanet:3035|SCTID:716198008 owl:Class GO:0050953 biolink:NamedThing sensory perception of light stimulus The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000149 biolink:NamedThing visual pigment cell tmpte7i6ely_mondo_relaxed.owl pigment cell cell owl:Class MONDO:0006458 biolink:NamedThing thymoma type B3 Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases. tmpte7i6ely_mondo_relaxed.owl thymoma type B3|epithelial malignant thymoma|atypical thymoma|malignant thymoma type B3|well-differentiated thymic carcinoma|squamoid thymoma|epithelial thymoma|thymoma, epithelial|well differentiated thymic carcinoma ICDO:8585/3|ICDO:8585/1|UMLS:C0279705|DOID:7926|NCIT:C7997|EFO:1000583 owl:Class MONDO:0016974 biolink:NamedThing thymoma type B An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma. tmpte7i6ely_mondo_relaxed.owl dendritic cell thymoma|epithelioid thymoma|dendritic cell thymoma (disease)|primary thymic epithelial neoplasm type B|Dendritic cell thymoma|primary thymic epithelial tumor type B|plump cell thymoma|thymoma type B ICD10:D15.0|UMLS:C1328042|Orphanet:263317|UMLS:CN202276|ICD10:C37|NCIT:C7114|DOID:3282 owl:Class HP:0000864 biolink:NamedThing Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025819 HP:0000838|HP:0000844 human_phenotype owl:Class MONDO:0004671 biolink:NamedThing penis carcinoma in situ A in situ carcinoma that involves the penis. tmpte7i6ely_mondo_relaxed.owl Bowen's disease of the penis|penile carcinoma in situ|grade III penile intraepithelial neoplasia|stage 0 penis carcinoma|carcinoma in situ of the penis|Bowen disease of the penis|erythroplasia of Queyrat|penis in situ carcinoma|stage 0 penile carcinoma in situ|penile intraepithelial neoplasia grade III|grade III squamous intraepithelial lesion of penis|penile carcinoma in situ aJCC v7|Bowen's disease of penis|grade III squamous intraepithelial lesion of the penis|carcinoma in situ of penis|Queyrat erythroplasia|Queyrat's erythroplasia ICD9:233.5|ICDO:8080/2|UMLS:C0154089|NCIT:C27790|SCTID:398831006|ICD10:D00-D09|ICD10:D07.4|DOID:8872 owl:Class MONDO:0016684 biolink:NamedThing anaplastic astrocytoma Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord. tmpte7i6ely_mondo_relaxed.owl grade III astrocytic neoplasm|grade III astrocytoma|grade III astrocytic tumor|malignant astrocytoma|astrocytoma, anaplastic, malignant|anaplastic astrocytoma UMLS:C0334579|ONCOTREE:AASTR|Orphanet:251589|EFO:0002499|ICD10:C71.9|MedDRA:10060971|MESH:D001254|DOID:3078|ICDO:9401/3|MedDRA:10002224|GARD:0005860|NCIT:C9477 owl:Class GO:0032107 biolink:NamedThing regulation of response to nutrient levels Any process that modulates the frequency, rate or extent of a response to nutrient levels. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002216 biolink:NamedThing brain sarcoma A sarcoma arising from the brain. tmpte7i6ely_mondo_relaxed.owl sarcoma of the brain|primary brain sarcoma|brain sarcoma|sarcoma of brain UMLS:C1332607|NCIT:C5154|DOID:2132 owl:Class MONDO:0018595 biolink:NamedThing single-organ polyarteritis nodosa Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common. tmpte7i6ely_mondo_relaxed.owl single-organ PAN|single-organ periarteritis nodosa ICD10:M30.0|Orphanet:439755|UMLS:CN242112 owl:Class GO:0002522 biolink:NamedThing leukocyte migration involved in immune response The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. tmpte7i6ely_mondo_relaxed.owl immune cell trafficking during immune response|immune cell migration during immune response|leukocyte trafficking during immune response|leucocyte migration during immune response|leucocyte trafficking during immune response owl:Class MONDO:0020586 biolink:NamedThing factor V deficiency A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. tmpte7i6ely_mondo_relaxed.owl factor V deficiency NCIT:C131738|SCTID:4320005 owl:Class GO:0044108 biolink:NamedThing cellular alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004936 biolink:NamedThing uterine inversion A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage. tmpte7i6ely_mondo_relaxed.owl ICD10:N85.5|DOID:997|MESH:D019687|SCTID:27215002|EFO:1001446|ICD9:665.2 owl:Class ENVO:01001282 biolink:NamedThing silica dust Dust which is composed primarily of slicon dioxide. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011028 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|delta-sarcoglycanopathy|SGCD autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|limb-girdle muscular dystrophy type 2F|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|LGMD2F|muscular dystrophy, limb-girdle, type 2F GARD:0008573|ICD10:G71.0|DOID:0110280|SCTID:718177001|OMIM:601287|Orphanet:219|MESH:C535896 https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f owl:Class CL:2000071 biolink:NamedThing mammary microvascular endothelial cell Any microvascular endothelial cell that is part of a breast. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7600 TermGenie 2014-10-07T19:55:30Z cell owl:Class MONDO:0003461 biolink:NamedThing fallopian tube serous adenofibroma A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium. tmpte7i6ely_mondo_relaxed.owl fallopian tube adenofibroma|fallopian tube serous adenofibroma|serous adenofibroma of fallopian tube UMLS:C1517109|DOID:5478|NCIT:C40113 owl:Class MONDO:0024886 biolink:NamedThing serous adenofibroma A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential. tmpte7i6ely_mondo_relaxed.owl serous adenofibroma UMLS:C0334498|NCIT:C67090|ICDO:9014/0 owl:Class NCBITaxon:32443 biolink:NamedThing Teleostei tmpte7i6ely_mondo_relaxed.owl teleost fishes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008584 biolink:NamedThing torus palatinus and torus mandibularis tmpte7i6ely_mondo_relaxed.owl torus palatinus and torus mandibularis MESH:C566043|UMLS:C1861044|OMIM:189700 owl:Class MONDO:0000611 biolink:NamedThing pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. tmpte7i6ely_mondo_relaxed.owl DOID:0060071 owl:Class MONDO:0007750 biolink:NamedThing hypercholesterolemia, familial, 1 tmpte7i6ely_mondo_relaxed.owl hypercholesterolemic xanthomatosis, familial|hyperlipoproteinemia, type 2A|hypercholesterolemia, familial, 1|hyper-low-density-lipoproteinemia|hyperlipoproteinemia, type 2|hypercholesterolemia, familial|FHCL1|LDL receptor disorder|FHC|low density lipoprotein cholesterol level quantitative trait locus 2 OMIM:143890|SCTID:398036000|Orphanet:391665 owl:Class MONDO:0013877 biolink:NamedThing mitochondrial pyruvate carrier deficiency An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation. tmpte7i6ely_mondo_relaxed.owl MPYCD|mitochondrial pyruvate carrier deficiency Orphanet:447784|OMIM:614741|DOID:0080363|ICD10:E74.4|UMLS:C3553607 owl:Class GO:0012501 biolink:NamedThing programmed cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. tmpte7i6ely_mondo_relaxed.owl regulated cell death|non-apoptotic programmed cell death|caspase-independent cell death|PCD|caspase-independent apoptosis|nonapoptotic programmed cell death|RCD owl:Class MONDO:0018885 biolink:NamedThing orbital leiomyoma Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:D31.6|UMLS:C4305000|UMLS:CN205236|Orphanet:52994|SCTID:719045009 owl:Class MONDO:0018918 biolink:NamedThing carcinoma of gallbladder and extrahepatic biliary tract Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. tmpte7i6ely_mondo_relaxed.owl carcinoma of gallbladder and EBT UMLS:CN205299|MedDRA:10007426|Orphanet:56044 owl:Class GO:0015872 biolink:NamedThing dopamine transport The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004794 biolink:NamedThing exposure keratitis tmpte7i6ely_mondo_relaxed.owl lagophthalmic keratitis|exposure keratoconjunctivitis ICD10:H16.21|ICD9:370.34|DOID:9461|SCTID:14366000|UMLS:C0339295 owl:Class PATO:0001655 biolink:NamedThing osmolarity A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019521 biolink:NamedThing centripetalis recessive dystrophic epidermolysis bullosa Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk. tmpte7i6ely_mondo_relaxed.owl RDEB-Ce|centripetal recessive dystrophic epidermolysis bullosa|RDEB, centripetalis|centripetal dystrophic epidermolysis bullosa ICD10:Q81.2|SCTID:725419003|Orphanet:89841|UMLS:C4511056 owl:Class GO:0042713 biolink:NamedThing sperm ejaculation The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020470 biolink:NamedThing 49,XYYYY syndrome 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. tmpte7i6ely_mondo_relaxed.owl SCTID:734028007|ICD10:Q98.8|UMLS:CN207332|Orphanet:99330|UMLS:C4518342 owl:Class MONDO:0017005 biolink:NamedThing Y chromosome number anomaly tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Orphanet:263746 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class MONDO:0013303 biolink:NamedThing autoimmune disease, susceptibility to, 6 Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene. tmpte7i6ely_mondo_relaxed.owl autoimmune disease, susceptibility to, 6|autoimmune disease caused by mutation in SIAE|autoimmune disease, susceptibility to, type 6|susceptibility to autoimmune disease 6|AIS6|SIAE autoimmune disease OMIM:613551 owl:Class NCBITaxon:39725 biolink:NamedThing Circovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012059 biolink:NamedThing polydactyly, postaxial, type A4 tmpte7i6ely_mondo_relaxed.owl Papa4|polydactyly, postaxial, type A4|postaxial polydactyly, type A4 OMIM:608562|Orphanet:93334|UMLS:C1837868|MESH:C563909 owl:Class MONDO:0011691 biolink:NamedThing amyotrophic lateral sclerosis type 3 tmpte7i6ely_mondo_relaxed.owl ALS3|amyotrophic lateral sclerosis 3 Orphanet:803|OMIM:606640|DOID:0060195|MESH:C564688|GARD:0010501 https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3 owl:Class ECTO:0001055 biolink:NamedThing exposure to decreased air temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air. tmpte7i6ely_mondo_relaxed.owl exposure to decreased amount in temperature of air owl:Class GO:0035150 biolink:NamedThing regulation of tube size Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0090066 biolink:NamedThing regulation of anatomical structure size Any process that modulates the size of an anatomical structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017103 biolink:NamedThing encephaloclastic disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227080|Orphanet:269190 owl:Class MONDO:0022849 biolink:NamedThing congenital stenosis of cervical medullary canal tmpte7i6ely_mondo_relaxed.owl GARD:0001504 https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal owl:Class MONDO:0003987 biolink:NamedThing lung lymphoma A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. tmpte7i6ely_mondo_relaxed.owl primary lung lymphoma|pulmonary lymphoma|lung lymphoma|lymphoma of lung|lymphoma of the lung UMLS:C1704383|DOID:6760|NCIT:C4794 owl:Class NCBITaxon:6157 biolink:NamedThing Platyhelminthes tmpte7i6ely_mondo_relaxed.owl flatworm|flatworms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019417 biolink:NamedThing X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl Orphanet:85318|UMLS:CN227629|ICD10:Q87.8 owl:Class MONDO:0014140 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 tmpte7i6ely_mondo_relaxed.owl muscle-eye-brain-GMPPB related|MDDGA14|Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Orphanet:588|DOID:0111233|UMLS:C3809216|OMIM:615350 owl:Class MONDO:0002010 biolink:NamedThing FG syndrome FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. tmpte7i6ely_mondo_relaxed.owl Keller syndrome|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FGS|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FGS1|Opitz-Kaveggia syndrome UMLS:C0220769|SCTID:49984004|OMIM:300406|GARD:0002317|OMIM:300321|Orphanet:323|ICD9:759.89|OMIM:305450|OMIM:300422|DOID:14711|OMIMPS:305400|OMIM:300581 https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome owl:Class NCBITaxon:314295 biolink:NamedThing Hominoidea tmpte7i6ely_mondo_relaxed.owl ape|apes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9526 biolink:NamedThing Catarrhini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012773 biolink:NamedThing Hunter-Macdonald syndrome tmpte7i6ely_mondo_relaxed.owl Hunter-Macdonald syndrome OMIM:611962|MESH:C567445|UMLS:C2677745 owl:Class MONDO:0006990 biolink:NamedThing suppurative uveitis Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. tmpte7i6ely_mondo_relaxed.owl MESH:D015829|EFO:1001203|DOID:13140|UMLS:C0042168 owl:Class HGNC:17928 biolink:NamedThing PSMC3IP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015668 biolink:NamedThing hereditary dentin defect The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. tmpte7i6ely_mondo_relaxed.owl Orphanet:167759|ICD10:K00.5 owl:Class MONDO:0000250 biolink:NamedThing osmotic diarrheal disease A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. tmpte7i6ely_mondo_relaxed.owl permeability diarrhea|osmotic diarrhea MEDGEN:540779|DOID:0050130|UMLS:C0267556|SCTID:2946003 owl:Class MONDO:0045030 biolink:NamedThing non-infectious diarrheal disease tmpte7i6ely_mondo_relaxed.owl presumed non-infectious diarrhea|non-infective diarrhea UMLS:C0267436|SCTID:69980003 owl:Class MONDO:0001610 biolink:NamedThing acute dacryocystitis Acute form of dacryocystitis. tmpte7i6ely_mondo_relaxed.owl dacryocystitis, acute|dacryocystitis - acute ICD10:H04.32|ICD9:375.32|UMLS:C0155237|DOID:12996|SCTID:25470000 owl:Class HGNC:2689 biolink:NamedThing DBH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045913 biolink:NamedThing positive regulation of carbohydrate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpte7i6ely_mondo_relaxed.owl up-regulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|upregulation of carbohydrate metabolic process|activation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism owl:Class UBERON:0004448 biolink:NamedThing distal epiphysis of phalanx tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000509 biolink:NamedThing gastrin secreting cell A peptide hormone secreting cell that secretes gastrin. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HP:0045058 biolink:NamedThing Abnormality of the testis size An anomaly of the size of the testicle (the male gonad). tmpte7i6ely_mondo_relaxed.owl UMLS:C4073180 human_phenotype owl:Class HP:0000035 biolink:NamedThing Abnormal testis morphology An anomaly of the testicle (the male gonad). tmpte7i6ely_mondo_relaxed.owl Anomaly of the testes|Abnormality of the testis UMLS:C0266423|SNOMEDCT_US:55631001 human_phenotype owl:Class MONDO:0006345 biolink:NamedThing palmar fibromatosis A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. tmpte7i6ely_mondo_relaxed.owl Dupuytren's contracture|palmar part of manus fibromatosis|Dupuytren contracture|Dupuytren contracture (disease)|palmar fibromatosis HP:0005679|EFO:0004229|NCIT:C3469|SCTID:203045001|SCTID:274142002|EFO:1000438|MESH:D004387 owl:Class MONDO:0005307 biolink:NamedThing contracture Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. tmpte7i6ely_mondo_relaxed.owl muscle contracture MESH:D003286|EFO:0003899 owl:Class MONDO:0012919 biolink:NamedThing type 1 diabetes mellitus 20 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. tmpte7i6ely_mondo_relaxed.owl IDDM20|type 1 diabetes mellitus caused by mutation in HNF1A|diabetes mellitus, insulin-dependent, type 20|insulin-dependent diabetes mellitus 20|diabetes mellitus, insulin-dependent, 20|HNF1A type 1 diabetes mellitus UMLS:C2675866|DOID:0110757|ICD10:E10|MESH:C567286|OMIM:612520 owl:Class HGNC:6484 biolink:NamedThing LAMA4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000944 biolink:NamedThing cerebral artery occlusion tmpte7i6ely_mondo_relaxed.owl SCTID:20059004|ICD9:434.90|DOID:10127|ICD9:434.9|ICD9:434.91|ICD9:434 owl:Class MONDO:0024864 biolink:NamedThing medium/large size posterior uveal melanoma tmpte7i6ely_mondo_relaxed.owl medium/large size posterior uveal melanoma NCIT:C9090|UMLS:C0278868 owl:Class MONDO:0003927 biolink:NamedThing posterior uveal melanoma tmpte7i6ely_mondo_relaxed.owl small size posterior uveal melanoma|medium/large size posterior uveal melanoma NCIT:C9090|NCIT:C9089|DOID:6566|UMLS:C0278867|UMLS:C0278868 owl:Class GO:1905349 biolink:NamedThing ciliary transition zone assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. tmpte7i6ely_mondo_relaxed.owl cilial transition zone assembly|cilium transition zone formation|ciliary transition zone formation|cilial transition zone formation|cilium transition zone assembly owl:Class GO:0022607 biolink:NamedThing cellular component assembly The aggregation, arrangement and bonding together of a cellular component. tmpte7i6ely_mondo_relaxed.owl cellular component assembly at cellular level|cell structure assembly owl:Class MONDO:0003946 biolink:NamedThing vaginal villous adenoma An adenoma that arises from the vagina and is characterized by a villous architectural pattern. tmpte7i6ely_mondo_relaxed.owl vagina villous adenoma|vaginal villous adenoma DOID:6613|NCIT:C40259|UMLS:C1519936 owl:Class HGNC:14258 biolink:NamedThing CD2AP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054677 biolink:NamedThing combined oxidative phosphorylation deficiency 33 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 33|COXPD33 DOID:0111495|OMIM:617713|UMLS:C4540209|EFO:0009159 owl:Class MONDO:0011990 biolink:NamedThing seizures, benign familial neonatal, 3 tmpte7i6ely_mondo_relaxed.owl convulsions, benign familial neonatal, 3|BFNS3|seizures, benign familial neonatal, 3 MESH:C564274|OMIM:608217|Orphanet:1949|UMLS:C1842382 owl:Class MONDO:0016027 biolink:NamedThing benign neonatal seizures A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. tmpte7i6ely_mondo_relaxed.owl seizures, benign familial neonatal|benign familal neonatal seizures|BFNS|benign familial convulsions|benign familial convulsion|benign neonatal convulsions|benign familial neonatal convulsions|benign familial neonatal seizures UMLS:C1852581|OMIM:121201|SCTID:38281008|Orphanet:1949|OMIMPS:121200|ICD10:G40.3|OMIM:269720|MedDRA:10067866|NCIT:C117307|OMIM:608217|DOID:14264|OMIM:121200 owl:Class MONDO:0019017 biolink:NamedThing short fifth metacarpals-insulin resistance syndrome Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl UMLS:CN205478|ICD10:E13|Orphanet:66518 owl:Class MONDO:0001350 biolink:NamedThing parametrium malignant neoplasm A malignant neoplasm involving the parametrium. tmpte7i6ely_mondo_relaxed.owl parametrium cancer|malignant neoplasm of parametrium|cancer of parametrium|malignant parametrium neoplasm ICD9:183.4|ICD10:C57.3|UMLS:C0153581|SCTID:448674007|DOID:11746 owl:Class MONDO:0024466 biolink:NamedThing facial paresis, hereditary congenital, 1 tmpte7i6ely_mondo_relaxed.owl Moebius syndrome 2|Moebius syndrome 2, formerly|HCFP1|facial paresis, hereditary congenital, 1|facial palsy, congenital, unilateral or bilateral|Mobius syndrome 2|Mobius syndrome 2, formerly Orphanet:306527|OMIM:601471|UMLS:C1832284 owl:Class MONDO:0011090 biolink:NamedThing isolated hereditary congenital facial paralysis Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. tmpte7i6ely_mondo_relaxed.owl Moebius syndrome 2 (formerly)|MBS2 (formerly)|HCFP|Mobius syndrome 2 (formerly)|hereditary congenital facial paresis|facial palsy, congenital, unilateral or bilateral|facial paresis hereditary congenital|facial paresis, hereditary congenital GARD:0008583|Orphanet:306527|UMLS:C4518577|ICD10:Q87.0|MESH:C563309|OMIMPS:601471|OMIM:601471|SCTID:733091002 https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis owl:Class UBERON:0014393 biolink:NamedThing sweat of axilla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002754 biolink:NamedThing extramedullary plasmacytoma A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients. tmpte7i6ely_mondo_relaxed.owl extramedullary plasmacytoma|EP|extraosseous plasmacytoma|extramedullary plasmacytoma (clinical)|plasmacytoma, extramedullary (not occurring in bone)|plasmacytoma, extramedullary ICD10:C90.2|ICD9:203.80|DOID:3720|ONCOTREE:EP|ICD10:C90.20|NCIT:C4002|SCTID:188718006|ICDO:9734/3|UMLS:C0278619 owl:Class MONDO:0001720 biolink:NamedThing gonococcal synovitis An synovitis (disease) caused by infection with Neisseria gonorrhoeae. tmpte7i6ely_mondo_relaxed.owl gonococcal synovitis or tenosynovitis|gonococcal synovitis &/or tenosynovitis|gonococcal synovitis and tenosynovitis UMLS:C0275662|UMLS:C0343714|SCTID:266138002|DOID:13454|ICD9:098.51 owl:Class GO:0071826 biolink:NamedThing ribonucleoprotein complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. tmpte7i6ely_mondo_relaxed.owl protein-RNA complex subunit organization|RNA-protein complex subunit organization|ribonucleoprotein complex subunit organisation owl:Class ENVO:00002149 biolink:NamedThing sea water Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean. tmpte7i6ely_mondo_relaxed.owl ocean water|seawater owl:Class ENVO:00002010 biolink:NamedThing saline water Water which contains a significant concentration of dissolved salts. tmpte7i6ely_mondo_relaxed.owl salt water owl:Class MONDO:0019553 biolink:NamedThing drug-induced localized lipodystrophy Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. tmpte7i6ely_mondo_relaxed.owl lipoatrophy caused by injected drug UMLS:CN227649|Orphanet:90157|ICD10:E88.1|SCTID:403661001 owl:Class MONDO:0054804 biolink:NamedThing microcephaly 21, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl microcephaly 21, PRIMARY, autosomal recessive|MCPH21 UMLS:CN244930|OMIM:617983 owl:Class MONDO:0022800 biolink:NamedThing type 2 collagenopathy Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. tmpte7i6ely_mondo_relaxed.owl disease or disorder caused by mutation in COL2A1|COL2A1|cartilage collagen|COL2A1 disease or disorder|collagenopathy type 2 alpha 1|collagen II MESH:C535964|GARD:0009246|UMLS:CN227672|Orphanet:93421|UMLS:C2931073|HGNC:2200 https://github.com/monarch-initiative/mondo/issues/3574|https://github.com/monarch-initiative/mondo/issues/3698|https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 owl:Class HP:0000315 biolink:NamedThing Abnormality of the orbital region tmpte7i6ely_mondo_relaxed.owl Abnormality of the eye region|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Anomaly of the orbital region of the face|Abnormality of the region around the eyes UMLS:C4025863 HP:0000284 human_phenotype owl:Class MONDO:0025356 biolink:NamedThing azoospermia, obstructive, with nephrolithiasis tmpte7i6ely_mondo_relaxed.owl OAZON OMIM:301060 owl:Class MONDO:0019971 biolink:NamedThing melanoma of soft tissue tmpte7i6ely_mondo_relaxed.owl clear cell sarcoma of the tendons and aponeuroses Orphanet:97338 owl:Class ENVO:01000617 biolink:NamedThing lentic water body A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006908 biolink:NamedThing pituitary apoplexy A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. tmpte7i6ely_mondo_relaxed.owl pituitary gland apoplexy SCTID:237701005|ICD10:E23.6|NCIT:C26853|Orphanet:95613|EFO:1001108|UMLS:C0032001|MESH:D010899|DOID:1129|ICD9:253.8|MedDRA:10056447 owl:Class MONDO:0000496 biolink:NamedThing hemorrhagic cystitis Inflammation of the bladder resulting in bloody urine. tmpte7i6ely_mondo_relaxed.owl SCTID:87696004|UMLS:C0085692|NCIT:C114666|DOID:0050859 owl:Class MONDO:0009871 biolink:NamedThing pili torti-developmental delay-neurological abnormalities syndrome Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. tmpte7i6ely_mondo_relaxed.owl pili torti developmental delay neurological abnormalities|pili torti and developmental delay Orphanet:2891|UMLS:C1849811|MESH:C537398|OMIM:261990|GARD:0004362 owl:Class MONDO:0010755 biolink:NamedThing vesicoureteral reflux, X-linked tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux, X-linked|VURX OMIM:314550|MESH:C564042|UMLS:C1839114 owl:Class MONDO:0021879 biolink:NamedThing small cell variant anaplastic large cell lymphoma A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei. tmpte7i6ely_mondo_relaxed.owl small cell variant of anaplastic large cell lymphoma|anaplastic small cell lymphoma|small cell variant anaplastic large cell lymphoma UMLS:C1335983|GARD:0009477|MESH:C538255|NCIT:C7208 https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma owl:Class MONDO:0016789 biolink:NamedThing pyruvate metabolism disorder An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn pyruvate metabolic process disorder|rare inborn error of pyruvate metabolic process|inborn error of pyruvate metabolic process Orphanet:254746|UMLS:CN226999|ICD10:E74.4 owl:Class MONDO:0001711 biolink:NamedThing hepatic encephalopathy Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis. tmpte7i6ely_mondo_relaxed.owl Hepatoencephalopathy|encephalopathy, hepatic|portal-systemic encephalopathy ICD10:K72|DOID:13413|MESH:D006501|GARD:0010452|SCTID:13920009|NCIT:C79596|ICD9:572.2|UMLS:C0019151 https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy owl:Class MONDO:0010556 biolink:NamedThing X-linked chondrodysplasia punctata X-linked form of chondrodysplasia punctata. tmpte7i6ely_mondo_relaxed.owl X-linked dominant chondrodysplasia punctata|chondrodystrophia calcificans congenita|chondrodysplasia punctata, X-linked|CPXD|chondrodysplasia punctata, X-linked dominant UMLS:C0263627|ICD10:Q77.3|DOID:0060292|OMIM:302950|OMIM:302960 owl:Class MONDO:0100388 biolink:NamedThing acute myeloid leukemia, Monosomy 5 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.) tmpte7i6ely_mondo_relaxed.owl AML, Monosomy 5 NCIT:C36523 owl:Class MONDO:0014212 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type C A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23. tmpte7i6ely_mondo_relaxed.owl molybdenum cofactor deficiency, complementation group C|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|molybdenum cofactor deficiency, complementation group type C|MOCODC|molybdenum cofactor deficiency type C|MOCOD type C|molybdenum cofactor deficiency complementation group C DOID:0111166|PMID:11095995|OMIM:615501|Orphanet:308400|Orphanet:833|UMLS:C1854990|MESH:C565374|ICD10:E72.1|Orphanet:99732 owl:Class MONDO:0011482 biolink:NamedThing dilated cardiomyopathy 1I Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy type 1I|cardiomyopathy, dilated, 1I|cardiomyopathy, dilated, type 1I|DES familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in DES|CMD1I DOID:0110431|ICD10:I42.0|UMLS:C1858154|MESH:C565752|OMIM:604765 owl:Class MONDO:0007588 biolink:NamedThing extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. tmpte7i6ely_mondo_relaxed.owl Char-Douglas-Dungan syndrome|extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly OMIM:133750|MESH:C565032|UMLS:C1851412|Orphanet:1964 owl:Class GO:0030031 biolink:NamedThing cell projection assembly Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpte7i6ely_mondo_relaxed.owl formation of a cell surface projection|cell projection biogenesis owl:Class MONDO:0024325 biolink:NamedThing cutaneous glomangiomyoma A glomangiomyoma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl zone of skin glomangiomyoma|glomangiomyoma of skin UMLS:C1275227|ICD9:227.6|SCTID:403971002 owl:Class MONDO:0019073 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia-renal defect syndrome tmpte7i6ely_mondo_relaxed.owl telangiectatic membranoproliferative glomerulonephritis|HLTRS|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|glomerulonephritis with sparse hair and telangiectases MESH:C536825|DOID:0111360|GARD:0002492|UMLS:CN205563|OMIM:137940 owl:Class MONDO:0010232 biolink:NamedThing intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms. tmpte7i6ely_mondo_relaxed.owl intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|intestinal pseudoobstruction neuronal chronic idiopathic X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|congenital short bowel syndrome, X-linked|Ciip, X-linked|CIIP|congenital idiopathic intestinal pseudoobstruction|Ipox|CIIPX|CIIP X-linked OMIM:300048|Orphanet:2978|GARD:0003017|MESH:C535532|Orphanet:2301 https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked owl:Class UBERON:0012344 biolink:NamedThing holocrine gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006660 biolink:NamedThing arthus reaction A localized vasculitis resulting from deposition of antibody-antigen complexes. tmpte7i6ely_mondo_relaxed.owl arthus reaction (function)|arthus type urticaria|arthus reaction|arthus phenomenon MedDRA:10003420|ICD10:T78.41|EFO:1000821|ICD9:995.21|NCIT:C34400|DOID:1556|ICD9:708.8|SCTID:402413008|UMLS:C0003907|MESH:D001183 Editor note: DO classifies as type III, NCIT as type I owl:Class MONDO:0024418 biolink:NamedThing muscular fibrosis multifocal obstructed vessels tmpte7i6ely_mondo_relaxed.owl Orphanet:2033|GARD:0003857 Editor note: not in ORDO as of Apr 29 2018 owl:Class MONDO:0013695 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 6 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. tmpte7i6ely_mondo_relaxed.owl TGFBR2 hereditary nonpolyposis colon cancer|HNPCC6|hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|colorectal cancer, hereditary nonpolyposis, type 6|colon cancer, hereditary nonpolyposis, type 6 OMIM:614331|MESH:C566039|UMLS:C1860896|DOID:0070273|Orphanet:144 owl:Class MONDO:0044739 biolink:NamedThing Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome tmpte7i6ely_mondo_relaxed.owl Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome ICD10:L51.8|Orphanet:506784 owl:Class MONDO:0054680 biolink:NamedThing epiphyseal dysplasia, multiple, 7 tmpte7i6ely_mondo_relaxed.owl EDM7|epiphyseal dysplasia, multiple, 7|multiple epiphyseal dysplasia 7 DOID:0070302|OMIM:617719 owl:Class GO:0042579 biolink:NamedThing microbody Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017049 biolink:NamedThing hypomyelination neuropathy-arthrogryposis syndrome Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. tmpte7i6ely_mondo_relaxed.owl Boylan-dew syndrome Orphanet:2680|OMIM:616287|OMIM:616286|UMLS:CN202399 owl:Class MONDO:0007791 biolink:NamedThing familial hypocalciuric hypercalcemia 1 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene. tmpte7i6ely_mondo_relaxed.owl hypocalciuric hypercalcemia, familial, type 1|FBH1|FHH type 1|familial hypocalciuric hypercalcemia caused by mutation in CASR|CASR familial hypocalciuric hypercalcemia|hypercalcemia, familial benign|hypocalciuric hypercalcemia, familial, type I|familial hypocalciuric hypercalcemia type I|familial benign hypercalcemia 1|familial hypocalciuric hypercalcemia type 1|HHC1|hypercalcemia, familial benign type 1|familial benign hypercalcemia type 1|hypocalciuric hypercalcemia, acquired|hypocalciuric hypercalcemia type I|Fhh1 ICD10:E83.5|MedDRA:10068704|OMIM:145980|Orphanet:405|SCTID:704166007|UMLS:C1809471|DOID:0060700|Orphanet:93372|MESH:C537145|GARD:0002796|UMLS:C0342637 owl:Class MONDO:0024612 biolink:NamedThing manic bipolar affective disorder The manic phase of bipolar disorder. tmpte7i6ely_mondo_relaxed.owl bipolar affective disorder, current episode manic|manic-depressive - now manic|manic bipolar affective disorder NCIT:C34805|SCTID:191618007 owl:Class MONDO:0009679 biolink:NamedThing arthrogryposis due to muscular dystrophy tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, producing arthrogryposis|congenital muscular dystrophy producing arthrogryposis GARD:0000779|UMLS:C1850865|DOID:0110631|ICD10:M62.8|OMIM:253900|MESH:C564985|Orphanet:1155 https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy owl:Class MONDO:0008259 biolink:NamedThing familial spontaneous pneumothorax Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. tmpte7i6ely_mondo_relaxed.owl spontaneous pneumothorax|Psp|pneumothorax, primary spontaneous|primary spontaneous pneumothorax Orphanet:2903|UMLS:C1868193|SCTID:715219001|DOID:0080218|MESH:C566795|ICD10:J93.1|OMIM:173600|GARD:0004997|UMLS:C4275252 owl:Class MONDO:0016025 biolink:NamedThing myoclonic-astastic epilepsy Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. tmpte7i6ely_mondo_relaxed.owl myoclonic atonic epilepsy|epilepsy with myoclono-astatic crisis|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-astatic seizures|Doose syndrome|mae|myoclonic astatic epilepsy|EMAS|epilepsy with myoclonic-atonic seizures ICD10:G40.4|OMIM:616421|SCTID:230421008|OMIM:615369|GARD:0002169|ICD9:345.10|Orphanet:1942 https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy owl:Class MONDO:0018754 biolink:NamedThing cyanide poisoning tmpte7i6ely_mondo_relaxed.owl ICD9:989.0|ICD10:T65.0|SCTID:66207005|UMLS:CN242145|Orphanet:466670 owl:Class MONDO:0004356 biolink:NamedThing childhood multilocular cystic kidney neoplasm A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. tmpte7i6ely_mondo_relaxed.owl benign multilocular cystic renal tumor|pediatric multilocular cystic renal tumor|childhood multilocular cystic kidney neoplasm|childhood multilocular cystic renal tumor|pediatric multilocular cystic kidney tumor|childhood multilocular cystic kidney tumor|childhood multilocular cystic renal neoplasm|pediatric multilocular cystic renal neoplasm|pediatric multilocular cystic kidney neoplasm UMLS:C1332983|NCIT:C6566|DOID:7762 owl:Class GO:1903829 biolink:NamedThing positive regulation of cellular protein localization Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpte7i6ely_mondo_relaxed.owl up-regulation of cellular protein localisation|positive regulation of cellular protein localisation|up-regulation of cellular protein localization|activation of cellular protein localization|upregulation of channel localizer activity|up regulation of channel localizer activity|upregulation of cellular protein localisation|up regulation of cellular protein localization|up regulation of cellular protein localisation|upregulation of cellular protein localization|positive regulation of channel localizer activity|up-regulation of channel localizer activity|activation of channel localizer activity|activation of cellular protein localisation owl:Class MONDO:0021235 biolink:NamedThing external ear neoplasm A neoplasm (disease) that involves the external ear. tmpte7i6ely_mondo_relaxed.owl external ear neoplasm (disease)|tumor of the external Ear|tumor of external Ear|neoplasm of external ear|tumor of external ear|neoplasm of the external Ear|external Ear tumor|neoplasm of external Ear|external ear tumor NCIT:C4652|SCTID:277155005|UMLS:C0349575 owl:Class MONDO:0007429 biolink:NamedThing optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy tmpte7i6ely_mondo_relaxed.owl optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|optic atrophy 1 and deafness|dominant optic atrophy plus syndrome GARD:0009897|Orphanet:1215|UMLS:C1852267|OMIM:125250|UMLS:C3276549 owl:Class MONDO:0021343 biolink:NamedThing carcinoma of floor of mouth A carcinoma that involves the mouth floor. tmpte7i6ely_mondo_relaxed.owl carcinoma of mouth floor|floor of the mouth carcinoma|mouth floor cancer|floor of mouth carcinoma|carcinoma of the floor of the mouth|mouth floor carcinoma SCTID:449156009|NCIT:C9319 owl:Class GO:0005761 biolink:NamedThing mitochondrial ribosome A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes. tmpte7i6ely_mondo_relaxed.owl 55S ribosome, mitochondrial owl:Class MONDO:0023267 biolink:NamedThing goldstein hutt syndrome tmpte7i6ely_mondo_relaxed.owl trichomegaly, cataract, and hereditary spherocytosis|long eyelashes, cataract, and hereditary spherocytosis UMLS:C2931465|MESH:C537282 owl:Class MONDO:0000783 biolink:NamedThing orange allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. tmpte7i6ely_mondo_relaxed.owl orange allergy|Citrus sinensis fruit allergy DOID:0060508 owl:Class MONDO:0007363 biolink:NamedThing congenital contractural arachnodactyly Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. tmpte7i6ely_mondo_relaxed.owl DA9|CCA syndrome|distal arthrogryposis type 9|Beals-Hecht syndrome|Beals syndrome|arthrogryposis, distal, type 9|contractures, multiple with arachnodactyly|CCA|contractural arachnodactyly, congenital|arachnodactyly, contractural Beals type|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis NCIT:C129865|ICD10:Q68.8|GARD:0005899|ICD9:759.89|OMIM:121050|Orphanet:115|DOID:0111595|MESH:C536211|UMLS:C0220668|SCTID:205821003 owl:Class MONDO:0031009 biolink:NamedThing Glanzmann thrombasthenia 2 tmpte7i6ely_mondo_relaxed.owl bleeding disorder, platelet-type, 23|GT2|Glanzmann thrombasthenia 2 OMIM:619267 owl:Class CHEBI:33263 biolink:NamedThing diatomic oxygen tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33262 biolink:NamedThing elemental oxygen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001798 biolink:NamedThing hypermobility syndrome tmpte7i6ely_mondo_relaxed.owl benign joint hypermobility UMLS:C0152093|ICD10:M35.7|DOID:13781|ICD9:728.5|SCTID:85551004 owl:Class MONDO:0045059 biolink:NamedThing cribriform carcinoma of breast tmpte7i6ely_mondo_relaxed.owl cribriform carcinoma|ductal carcinoma, cribriform type DOID:5675 owl:Class CL:0000325 biolink:NamedThing stuff accumulating cell A cell that is specialised to accumulate a particular substance(s). tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0000253 biolink:NamedThing piedra Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. tmpte7i6ely_mondo_relaxed.owl steroid-modified tinea infection|White Piedras|Piedras|hair shaft fungal infectious disease|black piedra|black Piedras|Piedras, White|White piedra|piedra, black|Piedras, black|piedra, White MESH:D010854|UMLS:C0031898|SCTID:402135006 owl:Class MONDO:0044885 biolink:NamedThing tonsillar lipoma A benign adipose tissue neoplasm of the tonsils. tmpte7i6ely_mondo_relaxed.owl lipoma of tonsil|tonsillar lipoma|tonsil lipoma|lipoma of the tonsil NCIT:C5989|UMLS:C1336764 owl:Class MONDO:0043836 biolink:NamedThing tuberculosis, spinal Tuberculosis of the vertebrae. tmpte7i6ely_mondo_relaxed.owl disease, pott's|tuberculous spondylitis|pott's disease|tuberculosis of spine (pott's)|Tuberculoses, spinal|disease, pott|spinal tuberculosis|tuberculosis of vertebral column|spinal Tuberculoses|tuberculosis of vertebral column - pott's|pott's paraplegia|Potts disease|pott disease MESH:D014399|SCTID:35984006|NCIT:C35087 owl:Class MONDO:0023240 biolink:NamedThing gigantism advanced bone age hoarse cry tmpte7i6ely_mondo_relaxed.owl GARD:0002471 https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry owl:Class FOODON:00001248 biolink:NamedThing fish food product A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins). tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class OBO:CHR_9606-chr2q3 biolink:NamedThing 2q3 (Human) tmpte7i6ely_mondo_relaxed.owl 242193529 168900000 hg38 owl:Class MONDO:0004423 biolink:NamedThing central nervous system extraskeletal osteosarcoma An osteosarcoma arising from the brain or spinal cord. tmpte7i6ely_mondo_relaxed.owl central nervous system osteosarcoma (disease)|central nervous system extraskeletal osteosarcoma|osteosarcoma of the central nervous system|osteosarcoma of central nervous system|central nervous system osteosarcoma NCIT:C7002|UMLS:C1335150|DOID:7994 owl:Class MONDO:0006814 biolink:NamedThing iritis Inflammation of the iris. tmpte7i6ely_mondo_relaxed.owl inflammation of iris|iritis (disease)|iritis|iris inflammation iritis (disease) DOID:1406|HP:0001101|EFO:1000997|MedDRA:10022955|MESH:D007500|UMLS:C0022081|NCIT:C50621|SCTID:65074000 owl:Class CHEBI:22693 biolink:NamedThing barbiturates Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1H,3H,5H)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure. tmpte7i6ely_mondo_relaxed.owl barbiturates|barbituric acids owl:Class MONDO:0011782 biolink:NamedThing angioid streaks Small breaks in the elastin-filled tissue of the retina. tmpte7i6ely_mondo_relaxed.owl angioid streaks UMLS:C0002982|DOID:13401|SCTID:86103006|EFO:1000805|MESH:D000793|MedDRA:10066191|OMIM:607140 owl:Class MONDO:0013425 biolink:NamedThing retinitis pigmentosa 20 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 20|RP20|RP 20|RPE65 retinitis pigmentosa|retinitis pigmentosa 20|retinitis pigmentosa caused by mutation in RPE65 DOID:0110353|GARD:0010404|MESH:C566718|HGNC:10294|UMLS:C3151086|ICD10:H35.5|OMIM:613794 https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20 owl:Class MONDO:0004955 biolink:NamedThing metabolic syndrome A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose. tmpte7i6ely_mondo_relaxed.owl metabolic syndrome|metabolic syndrome X ICD9:277.7|MESH:D024821|ICD10:E88.81|EFO:0000195|Orphanet:411969|OMIM:615812|SCTID:237602007|DOID:14221|OMIM:605552|NCIT:C84442|UMLS:C0524620 owl:Class MONDO:0013187 biolink:NamedThing factor XIII, A subunit, deficiency of tmpte7i6ely_mondo_relaxed.owl hereditary factor XIII type II deficiency|factor XIII, A subunit, deficiency of|hereditary factor XIII alpha subunit deficiency|hereditary factor XIII A subunit deficiency Orphanet:331|SCTID:439455002|OMIM:613225|UMLS:C2584877|MESH:C567691 owl:Class MONDO:0016068 biolink:NamedThing fibrochondrogenesis Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. tmpte7i6ely_mondo_relaxed.owl OMIM:228520|OMIMPS:228520|OMIM:614524|GARD:0002321|Orphanet:2021|SCTID:17144009|ICD10:Q77.7|DOID:0060465|MESH:C562524 https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis owl:Class CL:0002601 biolink:NamedThing uterine smooth muscle cell A smooth muscle cell of the uterus. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:53:28Z cell owl:Class MONDO:0015752 biolink:NamedThing intellectual disability-cataracts-kyphosis syndrome This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. tmpte7i6ely_mondo_relaxed.owl Orphanet:171860|UMLS:CN226733 owl:Class MONDO:0026723 biolink:NamedThing intellectual developmental disorder, X-linked 108 tmpte7i6ely_mondo_relaxed.owl MRX108|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108|Mental Retardation, X-Linked 108 OMIM:301024 owl:Class UBERON:0001528 biolink:NamedThing radio-ulnar joint tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:51025 biolink:NamedThing Oxyuroidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0046655 biolink:NamedThing folic acid metabolic process The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. tmpte7i6ely_mondo_relaxed.owl folate metabolic process|vitamin M metabolic process|vitamin B9 metabolism|folate metabolism|vitamin M metabolism|vitamin B9 metabolic process|folic acid metabolism owl:Class MONDO:0030362 biolink:NamedThing Aicardi-Goutieres syndrome 9 tmpte7i6ely_mondo_relaxed.owl AGS9|Aicardi-Goutieres syndrome 9 OMIM:619487 owl:Class MONDO:0001683 biolink:NamedThing pancreatic mucinous ductal ectasia tmpte7i6ely_mondo_relaxed.owl DOID:13313|NCIT:C5717|UMLS:C1335310 owl:Class MONDO:0005776 biolink:NamedThing gnathomiasis An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). tmpte7i6ely_mondo_relaxed.owl infectious disease by Gnathostoma|Gnathostoma infection|Gnathostomiasis GARD:0009286|MESH:D058429|SCTID:44086001|EFO:0007289|DOID:11379|UMLS:C0018013|ICD9:128.1|ICD10:B83.1|NCIT:C128395 owl:Class HGNC:14262 biolink:NamedThing AUTS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008939 biolink:NamedThing isolated cerebellar hypoplasia/agenesis Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. tmpte7i6ely_mondo_relaxed.owl Chiari 4 malformation|near total absence of cerebellum|cerebellar hypoplasia|congenital cerebellar Hypoplasia|Chiari IV malformation|subtotal absence of cerebellum|isolated cerebellar agenesis GARD:0001194|Orphanet:1398|SCTID:16026008|MedDRA:10008033|MESH:C562568|OMIM:213000|DOID:0070338|Orphanet:2246|ICD10:Q04.3|NCIT:C98890 owl:Class MONDO:0043094 biolink:NamedThing ichthyosis, follicular tmpte7i6ely_mondo_relaxed.owl follicular ichthyosis SCTID:238627002|GARD:0002355 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0019269 biolink:NamedThing ichthyosis Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. tmpte7i6ely_mondo_relaxed.owl non-syndromic ichthyosis|disorder of cornification|fish skin disease|ichthyosis|DOC|ichthyosis (disease)|ichthyoses|fish scale disease ichthyosis (disease) MedDRA:10021198|Orphanet:79354|MESH:D007057|NCIT:C84776|DOID:1697|UMLS:C0020757|HP:0008064 Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. https://github.com/monarch-initiative/mondo/issues/2114|https://github.com/monarch-initiative/mondo/pull/2110 owl:Class MONDO:0014867 biolink:NamedThing spinocerebellar ataxia 43 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. tmpte7i6ely_mondo_relaxed.owl SCA43|MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43|spinocerebellar ataxia 43; SCA43|spinocerebellar ataxia type 43|autosomal dominant cerebellar ataxia caused by mutation in MME EFO:0009060|DOID:0111745|Orphanet:497764|UMLS:C4310763|OMIM:617018 owl:Class HP:0001760 biolink:NamedThing Abnormal foot morphology An abnormality of the skeleton of foot. tmpte7i6ely_mondo_relaxed.owl Abnormal feet structure|Abnormality of the foot|Foot deformity|Foot deformities|Abnormality of the feet MSH:D005530|UMLS:C0016506|SNOMEDCT_US:229844004 A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. HP:0010216|HP:0010611 human_phenotype owl:Class MONDO:0006270 biolink:NamedThing lobular breast carcinoma in situ A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl lobular carcinoma in situ of breast|non-invasive lobular breast carcinoma|lobular carcinoma in situ (LCIS)|lobular Ca in situ of the breast|lobular carcinoma in situ of the breast (LCIS)|lobular breast carcinoma in situ|lobular carcinoma in situ|lobular carcinoma in situ of the breast|non-invasive lobular carcinoma of the breast|non-infiltrating lobular carcinoma|non-infiltrating lobular carcinoma of breast|lobular Ca in situ of breast|LCIS|non-infiltrating lobular carcinoma of the breast|non-invasive lobular carcinoma of breast|breast lobular carcinoma in situ|non-infiltrating lobular breast carcinoma NCIT:C4018|ICDO:8520/2|SCTID:109888004|ONCOTREE:LCIS|EFO:1000326|UMLS:C0334381|UMLS:C0279563 owl:Class MONDO:0700006 biolink:NamedThing non-idiopathic A disease characteristic in which the disease has a known cause. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0005518 biolink:NamedThing pseudohermaphroditism A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. tmpte7i6ely_mondo_relaxed.owl indeterminate sex and pseudohermaphroditism DOID:3765|ICD9:752.7|SCTID:268229003|Wikipedia:Pseudohermaphroditism|ICD10:Q56.3|SCTID:75164001|EFO:0005579|MESH:D012734|NCIT:C124575|ICD10:Q56 owl:Class MONDO:0001954 biolink:NamedThing thrombophlebitis migrans A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. tmpte7i6ely_mondo_relaxed.owl UMLS:C0152250|ICD9:453.1|SCTID:31268005|ICD10:I82.1|DOID:14392 owl:Class MONDO:0014320 biolink:NamedThing optic atrophy-intellectual disability syndrome Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. tmpte7i6ely_mondo_relaxed.owl BOSCH-Boonstra-Schaaf optic atrophy syndrome|optic atrophy-intellectual disability syndrome|BBSOAS ICD10:H47.2|Orphanet:401777|UMLS:C3810363|OMIM:615722 owl:Class MONDO:0010172 biolink:NamedThing VACTERL with hydrocephalus VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. tmpte7i6ely_mondo_relaxed.owl VACTERL-H|Vater association with macrocephaly and ventriculomegaly|VACTERL association with hydrocephalus|Sujansky-Leonard syndrome|VACTERL association with hydrocephaly|Vater association with hydrocephalus|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|VACTERL hydrocephaly GARD:0000272|UMLS:C1848599|OMIM:314390|ICD10:Q87.8|Orphanet:3412|OMIM:276950 owl:Class UBERON:0003593 biolink:NamedThing thoracic cavity connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2252 biolink:NamedThing CORO1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020843 biolink:NamedThing pseudomembranous diphtheritic conjunctivitis Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl conjunctival diphtheria|pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria NCIT:C34543|ICD9:032.81|SCTID:7773002|UMLS:C0012554 owl:Class UBERON:0016398 biolink:NamedThing lymph node of lower limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001906 biolink:NamedThing posterior dislocation of lens tmpte7i6ely_mondo_relaxed.owl ICD10:H27.13|ICD9:379.34|DOID:14199|UMLS:C0155373|SCTID:14169000 May be obsoleted as it represents a finding; TODO add HPO class owl:Class MONDO:0001774 biolink:NamedThing posterior scleritis tmpte7i6ely_mondo_relaxed.owl SCTID:267660007|DOID:13676|ICD10:H15.03|UMLS:C0155357|ICD9:379.07 owl:Class MONDO:0023571 biolink:NamedThing Kozlowski Rafinski Klicharska syndrome tmpte7i6ely_mondo_relaxed.owl metaphyseal and epiphyseal dysplasia with unusual facies and cataract MESH:C537509|GARD:0003140|UMLS:C2931513 https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome owl:Class MONDO:0006421 biolink:NamedThing small intestinal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl UMLS:C1710112|EFO:1000538|NCIT:C43552 owl:Class MONDO:0017719 biolink:NamedThing gangliosidosis A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. tmpte7i6ely_mondo_relaxed.owl ICD10:E75.0|DOID:2368|Orphanet:309144|UMLS:C0017083|ICD10:E75.1|SCTID:50967008|ICD10:E75.10|GARD:0012510 owl:Class MONDO:0024607 biolink:NamedThing congenital muscular dystrophy with cataracts and intellectual disability A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, with cataracts and intellectual disability|MDCCAID EFO:0009149|OMIM:617404|UMLS:C4479410|DOID:0080197 owl:Class OBO:CHR_9606-chr21q22.13-q22.2 biolink:NamedThing 21q22.13-q22.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0010709 biolink:NamedThing early-onset parkinsonism-intellectual disability syndrome Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. tmpte7i6ely_mondo_relaxed.owl Parkinsonism, early onset with intellectual disability|WAISMAN syndrome|Laxova Brown hogan syndrome|Waisman syndrome|Wsn|Parkinsonism, early onset with mental retardation|BGMR|WSMN|Parkinsonism, early-onset, with intellectual disability|early-onset parkinsonism-intellectual disability syndrome|basal ganglion disorder with mental retardation|basal ganglion disorder with intellectual disability|X-linked recessive basal ganglia disorder with mental retardation|X-linked recessive basal ganglia disorder with intellectual disability|Laxova-Opitz syndrome|basal ganglia disorder with mental retardation|basal ganglia disorder with intellectual disability|Parkinsonism, early-onset, with mental retardation ICD10:G20|SCTID:716107009|UMLS:C0796195|OMIM:311510|GARD:0003203|DOID:0111781|MESH:C537179|Orphanet:2379 owl:Class NCBITaxon:31245 biolink:NamedThing Schistosomatidae tmpte7i6ely_mondo_relaxed.owl blood flukes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100436 biolink:NamedThing cataract 2, multiple types Any cataract in which the cause of the disease is a mutation in the CRYGC gene. tmpte7i6ely_mondo_relaxed.owl cataract, Coppock-like|CTRCT2|cataract 2 multiple types with or without microcornea|cataract 2, multiple types, with or without microcornea|cataract 2 multiple types DOID:0110235|OMIM:604307 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3904 owl:Class UBERON:0003857 biolink:NamedThing upper eyelid mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2578 biolink:NamedThing CYBB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008506 biolink:NamedThing symphalangism of toes tmpte7i6ely_mondo_relaxed.owl symphalangism of toes UMLS:C1861418|OMIM:185600|MESH:C566101 owl:Class MONDO:0000151 biolink:NamedThing symphalangism tmpte7i6ely_mondo_relaxed.owl SCTID:253975004 owl:Class HGNC:28358 biolink:NamedThing D2HGDH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030529 biolink:NamedThing agammaglobulinemia 10, autosomal dominant tmpte7i6ely_mondo_relaxed.owl AGM10 OMIM:619707 owl:Class NCBITaxon:88770 biolink:NamedThing Panarthropoda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1206794 biolink:NamedThing Ecdysozoa tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000957 biolink:NamedThing lamina tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018145 biolink:NamedThing lumbar rib tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11920 biolink:NamedThing FAS tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001023 biolink:NamedThing Kit-positive, CD34-positive common myeloid progenitor A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low. tmpte7i6ely_mondo_relaxed.owl CD117-positive common myeloid precursor Markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000034)(PMID:19243617). cell owl:Class GO:1901342 biolink:NamedThing regulation of vasculature development Any process that modulates the frequency, rate or extent of vasculature development. tmpte7i6ely_mondo_relaxed.owl regulation of vascular system development owl:Class CL:0010020 biolink:NamedThing cardiac glial cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012049 biolink:NamedThing orofaciodigital syndrome VII tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome type VII|Whelan syndrome|Ofds 7|orofaciodigital syndrome VII|OFD7|orofaciodigital syndrome type 7|oral-Facial-digital syndrome, type 7|orofaciodigital syndrome 7 UMLS:CN206429|MESH:C563104|OMIM:608518|DOID:0060377|UMLS:C0796100|Orphanet:90649 owl:Class ENVO:01001684 biolink:NamedThing interface layer A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000363 biolink:NamedThing gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. tmpte7i6ely_mondo_relaxed.owl DOID:0050584 owl:Class MONDO:0013884 biolink:NamedThing neuronopathy, distal hereditary motor, type 5B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene. tmpte7i6ely_mondo_relaxed.owl REEP1 neuronopathy, distal hereditary motor|dHMN 5B|HMN 5B|neuronopathy, distal hereditary motor, type VB|spinal muscular atrophy, distal, type 5B|neuropathy, distal hereditary motor, type 5B|neuronopathy, distal hereditary motor caused by mutation in REEP1|HMN5B UMLS:C3553656|Orphanet:139536|OMIM:614751|DOID:0111205 owl:Class CHEBI:35942 biolink:NamedThing neurotransmitter agent A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. tmpte7i6ely_mondo_relaxed.owl neurotransmitter agents owl:Class UBERON:0007245 biolink:NamedThing nuclear complex of neuraxis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007418 biolink:NamedThing neural decussation tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4266 biolink:NamedThing GHRHR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100116 biolink:NamedThing Middle East respiratory syndrome A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. tmpte7i6ely_mondo_relaxed.owl camel flu|MERS Orphanet:576074|UMLS:C3694279|DOID:0080642|NCIT:C128424 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0021513 biolink:NamedThing benign neoplasm of tonsil A benign neoplasm that involves the tonsil. tmpte7i6ely_mondo_relaxed.owl benign tumor of tonsil|benign tumor of the tonsil|benign tonsillar tumor|tonsil benign neoplasm|benign tonsillar neoplasm|benign neoplasm of the tonsil|benign tonsil neoplasm|tonsillar neoplasm, benign|benign tonsil tumor SCTID:92263001|NCIT:C3594|UMLS:C0153936|ICD9:210.5|ICD10:D10.4 owl:Class MONDO:0044299 biolink:NamedThing myasthenic syndrome, congenital, 22 tmpte7i6ely_mondo_relaxed.owl CMS22|Prepl deficiency|myasthenic syndrome, congenital, 22 OMIM:616224|Orphanet:590|DOID:0080587|UMLS:C4479088 owl:Class MONDO:0001887 biolink:NamedThing Allen-Masters syndrome A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix. tmpte7i6ely_mondo_relaxed.owl Masters-Allen syndrome|Broad ligament laceration syndrome ICD9:620.6|UMLS:C0152079|DOID:14133|SCTID:69186005 owl:Class MONDO:0010010 biolink:NamedThing Schinzel-Giedion syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. tmpte7i6ely_mondo_relaxed.owl Sgs|Schinzel-Giedion midface retraction syndrome|Schinzel Giedion syndrome|Schinzel-Giedion midface-retraction syndrome|Schinzel-Giedion syndrome|SGS|Schinzel Giedion midface-retraction syndrome Orphanet:798|MESH:C536632|MedDRA:10063540|SCTID:18899000|ICD10:Q87.0|UMLS:C0265227|NCIT:C129308|OMIM:269150|GARD:0000117|ICD9:759.89 owl:Class MONDO:0011418 biolink:NamedThing dyslexia, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl dyslexia, susceptibility to, 3|DYX3 OMIM:604254 owl:Class UBERON:0003459 biolink:NamedThing chest bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006287 biolink:NamedThing malignancy in giant cell tumor of bone A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). tmpte7i6ely_mondo_relaxed.owl giant cell sarcoma of the bone|malignancy in giant cell tumor of the bone|bone giant cell sarcoma|giant cell sarcoma of bone|OSTEOCLASTOMA, malignant|giant cell tumor of bone, malignant|giant cell bone sarcoma|giant cell tumor of bone, malignant (morphologic abnormality)|Dedifferentiated giant cell tumor|malignancy in giant cell tumor of bone|malignant giant cell tumor of bone ICDO:9250/3|DOID:4719|UMLS:C0334552|EFO:1000347|NCIT:C4304 owl:Class MONDO:0009439 biolink:NamedThing autosomal recessive congenital ichthyosis 2 An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin. tmpte7i6ely_mondo_relaxed.owl ichthyosiform erythroderma, nonbullous congenital, 1, formerly|ichthyosiform erythroderma, congenital, nonbullous, 1|autosomal recessive congenital ichthyosis type 2|ichthyosiform erythroderma, nonbullous congenital, 1|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly|ichthyosiform erythroderma, Brocq congenital, nonbullous form|ichthyosis, congenital, autosomal recessive type 2|Brocq congenital ichthyosiform erythroderma nonbullous form|NCIE1|ichthyosis, congenital, autosomal recessive 2|nonbullous congenital ichthyosiform erythroderma 1|collodion baby, self-healing|NBCIE|NCIE|ARCI2 DOID:0060710|UMLS:C1855789|ICD10:Q80.2|OMIM:242100|GARD:0009736|Orphanet:281122|Orphanet:79394|NCIT:C132827 owl:Class MONDO:0017267 biolink:NamedThing self-healing collodion baby Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. tmpte7i6ely_mondo_relaxed.owl self-improving congenital ichthyosis|SHCB|SICI|self-improving collodion baby UMLS:C1855789|OMIM:242300|ICD10:Q80.2|OMIM:606545|OMIM:242100|Orphanet:281122|SCTID:718632004 owl:Class MONDO:0006282 biolink:NamedThing lymphangiosarcoma A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl Stewart-Treves syndrome|malignant lymphangioendothelioma|lymphangioendothelial sarcoma|lymphangiosarcoma, malignant|lymphangiosarcoma|lymphangiosarcoma of Stewart and Treves ICDO:9170/3|DOID:2689|EFO:1000339|ICD9:171.9|SCTID:62497000|SCTID:403986008|MESH:D008204|UMLS:C0024224|NCIT:C3205|UMLS:C0346082 owl:Class MONDO:0021202 biolink:NamedThing allergic otitis media A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction. tmpte7i6ely_mondo_relaxed.owl allergic form of otitis media (disease)|allergic otitis media (disease) SCTID:26169004|UMLS:C0271447 owl:Class MONDO:0011358 biolink:NamedThing blue nevi, familial multiple tmpte7i6ely_mondo_relaxed.owl blue nevi, familial multiple OMIM:603670|UMLS:C1863617|MESH:C566346 owl:Class NCBITaxon:157 biolink:NamedThing Treponema tmpte7i6ely_mondo_relaxed.owl Microspironema|"Spironema" Vuillemin 1905 PMID:9019153|PMID:9734025|GC_ID:11|PMID:23961314 ncbi_taxonomy owl:Class NCBITaxon:2845253 biolink:NamedThing Treponemataceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004702 biolink:NamedThing uterine cervix leukoplakia The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present. tmpte7i6ely_mondo_relaxed.owl cervix uteri leukoplakia|cervix leukoplakia|leukoplakia of cervix (uteri)|leukoplakia of uterine cervix|leukoplakia of cervix uteri|leukoplakia of cervix|leukoplakia of the cervix|leukoplakia of the uterine cervix|leukoplakia of the cervix uteri|cervical leukoplakia UMLS:C0269194|ICD9:622.2|NCIT:C3976|ICD10:N88.0|SCTID:50923006|DOID:9043 owl:Class MONDO:0004191 biolink:NamedThing nephrogenic adenoma So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. tmpte7i6ely_mondo_relaxed.owl nephrogenic adenoma NCIT:C7413|DOID:7334|UMLS:C0334039|NCIT:C97097 owl:Class MONDO:0007921 biolink:NamedThing yellow nail syndrome Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. tmpte7i6ely_mondo_relaxed.owl YNS|Yns|lymphedema with yellow nails|lymphedema and Yellow nails|yellow nail syndrome ICD9:757.0|EFO:1001452|DOID:0050468|GARD:0000184|Orphanet:662|MedDRA:10048244|OMIM:153300|ICD10:L60.5|SCTID:400211001|ICD9:703.8|NCIT:C85238|MESH:D056684|UMLS:C0221348 https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome owl:Class MONDO:0007936 biolink:NamedThing macular dystrophy, fenestrated sheen type tmpte7i6ely_mondo_relaxed.owl macular dystrophy, fenestrated sheen type MESH:C563607|UMLS:C1835173|OMIM:153890 owl:Class MONDO:0013840 biolink:NamedThing encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. tmpte7i6ely_mondo_relaxed.owl coenzyme Q10 deficiency, primary, type 5|coenzyme Q10 deficiency, primary, 5|COQ10D5 ICD10:E88.8|OMIM:614654|DOID:0070242|Orphanet:319678|UMLS:C3553374 owl:Class MONDO:8000019 biolink:NamedThing vertigo, benign recurrent, 1 tmpte7i6ely_mondo_relaxed.owl vertigo, benign recurrent, 1 owl:Class GO:0042552 biolink:NamedThing myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. tmpte7i6ely_mondo_relaxed.owl myelinogenesis owl:Class MONDO:0018944 biolink:NamedThing gestational trophoblastic neoplasm A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor. tmpte7i6ely_mondo_relaxed.owl GTT|gestational trophoblastic tumor|molar pregnancy|GTN|hydatidiform mole|gestational trophoblastic neoplasia|gestational trophoblastic disease Orphanet:59305|OMIM:231090|UMLS:C1135868|ICD10:O01|SCTID:44782008|DOID:3590|ICD9:630|NCIT:C3110|MESH:D006828|GARD:0006498|UMLS:C0020217|MedDRA:10061988|ICD10:O01.9|SCTID:609519004|NCIT:C4699|ICD10:O01.0 owl:Class MONDO:0019636 biolink:NamedThing renal agenesis, unilateral Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. tmpte7i6ely_mondo_relaxed.owl congenital single kidney|unilateral renal agenesis|congenital solitary kidney NCIT:C101220|ICD10:Q60.0|MedDRA:10053624|UMLS:C0266294|Orphanet:93100 owl:Class MONDO:0018470 biolink:NamedThing renal agenesis Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). tmpte7i6ely_mondo_relaxed.owl renal hypodysplasia/aplasia|hereditary renal aplasia|absent/small kidney|renal aplasia|hereditary urogenital adysplasia|renal agenesis/hypoplasia|renal agenesis|renal adysplasia|absent/underdeveloped kidney|renal agenesis (disease) renal agenesis (disease) OMIM:191830|OMIMPS:191830|OMIM:615721|SCTID:204942005|ICD10:Q60.2|HP:0008678|Orphanet:411709|NCIT:C99041|GARD:0009228|HP:0000104|DOID:14766|ICD10:Q60.1|ICD10:Q60.0 owl:Class GO:0006518 biolink:NamedThing peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. tmpte7i6ely_mondo_relaxed.owl peptide metabolism owl:Class MONDO:0001123 biolink:NamedThing chronic sphenoidal sinusitis Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpte7i6ely_mondo_relaxed.owl sphenoid sinusitis, chronic|chronic sphenoid sinusitis|sphenoidal sinus-chr. UMLS:C0008712|ICD9:473.3|ICD10:J32.3|DOID:10793|NCIT:C34480|SCTID:38961000 owl:Class MONDO:0008339 biolink:NamedThing antecubital pterygium syndrome tmpte7i6ely_mondo_relaxed.owl antecubital pterygium syndrome|pterygium, antecubital|antecubital pterygium|pterygium antecubital MESH:C566738|Orphanet:2987|GARD:0004570|OMIM:178200|UMLS:C1867439 owl:Class MONDO:0019151 biolink:NamedThing oligocone trichromacy Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision. tmpte7i6ely_mondo_relaxed.owl Oligocone syndrome UMLS:CN205696|UMLS:C4302876|Orphanet:75378|SCTID:722066001 owl:Class PO:0025530 biolink:NamedThing reproductive shoot system development stage A shoot system development stage (PO:0025527) that has as primary participant a reproductive shoot system (PO:0025082). tmpte7i6ely_mondo_relaxed.owl PO_GIT:517 Laurel_Cooper 2012-12-13T19:01:14Z plant_structure_development_stage owl:Class PO:0025527 biolink:NamedThing shoot system development stage A collective plant organ structure development stage (PO:0025338) that begins with the onset of the plant organ development stage (PO:0025339) and ends with either gametophyte senescent stage (PO:0025343) or sporophyte senescent stage (PO:0007017) or death. tmpte7i6ely_mondo_relaxed.owl PO_GIT:517 The shoot system (PO:0009006) develops fron the shoot apical meristem (PO:0020148) in the plant embryo (PO:0009009) in vascular plants. In lower plants the gametophore (PO:0030018) arises from a gametophore meristematic apical cell (PO:0030019) in the protonema (PO:0030003). Laurel_Cooper 2012-12-13T18:21:19Z plant_structure_development_stage owl:Class HP:0005599 biolink:NamedThing Hypopigmentation of hair tmpte7i6ely_mondo_relaxed.owl Hair hypopigmentation|Loss of hair colour|Loss of hair color UMLS:C3278401 human_phenotype owl:Class MONDO:0011525 biolink:NamedThing Carney complex type 2 tmpte7i6ely_mondo_relaxed.owl Carney complex, type 2|CNC2|Carney Myxoma-endocrine Complex, type 2 Orphanet:1359|OMIM:605244 owl:Class UBERON:0004160 biolink:NamedThing proepicardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006804 biolink:NamedThing inflammatory breast carcinoma An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma. tmpte7i6ely_mondo_relaxed.owl inflammatory carcinoma of breast|mastitis carcinomatosa|breast cancer, inflammatory|inflammatory breast carcinoma|inflammatory carcinoma of the breast|mastitis Carcinomatosa|inflammatory breast cancer|IBC ONCOTREE:IBC|SCTID:254840009|UMLS:C0278601|MESH:D058922|DOID:6263|GARD:0006784|NCIT:C4001|MedDRA:10006205|ICDO:8530/3|EFO:1000984 owl:Class MONDO:0034150 biolink:NamedThing idiopathic gastroparesis tmpte7i6ely_mondo_relaxed.owl Orphanet:558411 owl:Class NCBITaxon:85006 biolink:NamedThing Micrococcales tmpte7i6ely_mondo_relaxed.owl Micrococcineae GC_ID:11|PMID:19542112|PMID:19244447|PMID:11837321|PMID:20190019|PMID:30186281 ncbi_taxonomy owl:Class MONDO:0021520 biolink:NamedThing benign neoplasm of floor of mouth A benign neoplasm that involves the mouth floor. tmpte7i6ely_mondo_relaxed.owl benign floor of mouth tumor|benign tumor of the floor of the mouth|benign floor of the mouth tumor|benign floor of mouth neoplasm|mouth floor benign neoplasm|benign floor of the mouth neoplasm|benign neoplasm of the floor of the mouth|benign tumor of floor of mouth UMLS:C0153934|ICD10:D10.2|NCIT:C3593|ICD9:210.3|SCTID:92109005 owl:Class MONDO:0006185 biolink:NamedThing ductal or ductular proliferation A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver. tmpte7i6ely_mondo_relaxed.owl NCIT:C111786|EFO:1000222 Editor note: consider obsoleting owl:Class MONDO:0008442 biolink:NamedThing spastic paraplegia-neuropathy-poikiloderma syndrome Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia with neuropathy and poikiloderma|familial spastic paraplegia with neuropathy and poikiloderma|Antinolo-Nieto-Borrego syndrome|spastic paraplegia neuropathy poikiloderma GARD:0004921|MESH:C536870|UMLS:C1866851|OMIM:182815|Orphanet:2821 owl:Class MONDO:0031001 biolink:NamedThing vitreoretinopathy with phalangeal epiphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl VPED OMIM:619248 owl:Class MONDO:0002824 biolink:NamedThing extrinsic cardiomyopathy A cardiomyopathy that is not due to abnormalities in heart muscle cells. tmpte7i6ely_mondo_relaxed.owl secondary cardiomyopathy DOID:3978|SCTID:195029002|ICD9:425.8 owl:Class HP:0003111 biolink:NamedThing Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. tmpte7i6ely_mondo_relaxed.owl Electrolyte disorders|Abnormality of ion homeostasis UMLS:C4025654|UMLS:C1704431|SNOMEDCT_US:237840007 HP:0003253 human_phenotype owl:Class MONDO:0020737 biolink:NamedThing optic atrophy 10 with or without ataxia, intellectual disability, and seizures tmpte7i6ely_mondo_relaxed.owl optic atrophy 10 with or without ataxia, intellectual disability, and seizures|optic atrophy 10 with or without ataxia, mental retardation, and seizures|OPA10 OMIM:616732|DOID:0111434 owl:Class MONDO:0023019 biolink:NamedThing dwarfism bluish sclerae tmpte7i6ely_mondo_relaxed.owl GARD:0001984 https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae owl:Class MONDO:0000871 biolink:NamedThing T-cell childhood acute lymphocytic leukemia An acute lymphoblastic leukemia of T-cell origin occurring in children. tmpte7i6ely_mondo_relaxed.owl childhood precursor T-lymphoblastic leukemia|T-cell childhood acute lymphocytic leukemia|T-cell pediatric ALL|T-cell pediatric acute lymphocytic leukemia|T-cell pediatric acute lymphoblastic leukemia|childhood T acute lymphoblastic leukemia|T-cell childhood ALL|childhood T-ALL|childhood T-cell acute lymphoblastic leukemia|T acute lymphoblastic leukemia|T-cell childhood acute lymphoblastic leukemia EFO:1001947|NCIT:C7953|DOID:0080145|UMLS:C0279583 owl:Class MONDO:0032942 biolink:NamedThing neurodevelopmental disorder with microcephaly and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl NEDMIDF|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES OMIM:618828 owl:Class UBERON:0014637 biolink:NamedThing thoracic spinal cord white matter tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000176 biolink:NamedThing shrubland biome A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100322 biolink:NamedThing non-Zellweger spectrum disorder A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7. tmpte7i6ely_mondo_relaxed.owl non-Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:4200172 biolink:NamedThing neck of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015689 biolink:NamedThing myeloid neoplasm associated with PDGFRA rearrangement A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl myeloid and lymphoid neoplasms associated with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement|myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasm associated with PDGFRA rearrangement NCIT:C84275|Orphanet:168947|ONCOTREE:MLNPDGFRA|UMLS:C2827360|SCTID:738527001|DOID:0080165|ICD10:D47.1|UMLS:C4545381|ICDO:9965/3 owl:Class MONDO:0700038 biolink:NamedThing TDP-43 proteinopathy Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. tmpte7i6ely_mondo_relaxed.owl MESH:D057177|UMLS:C2718017 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0012922 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 5 tmpte7i6ely_mondo_relaxed.owl IHPS5|infantile hypertrophic pyloric stenosis type 5|pyloric stenosis, infantile hypertrophic, 5 MESH:C567283|UMLS:C2675862|OMIM:612525 owl:Class MONDO:0012446 biolink:NamedThing seborrhea-like dermatitis with psoriasiform elements tmpte7i6ely_mondo_relaxed.owl seborrhea-like dermatitis with psoriasiform elements Orphanet:168606|MESH:C565217|UMLS:C1853258|OMIM:610227 owl:Class MONDO:0003500 biolink:NamedThing squamous cell bile duct carcinoma A squamous cell carcinoma that involves the bile duct. tmpte7i6ely_mondo_relaxed.owl bile duct squamous cell carcinoma NCIT:C5777|UMLS:C0861861|DOID:5537 owl:Class MONDO:0007846 biolink:NamedThing KBG syndrome KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. tmpte7i6ely_mondo_relaxed.owl short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies|KBG syndrome|KBGS|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies ICD10:Q87.8|Orphanet:2332|ICD9:759.89|GARD:0000082|SCTID:711156009|DOID:14780|MESH:C537015|UMLS:C0220687|OMIM:148050 https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome owl:Class HGNC:25455 biolink:NamedThing TSR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013580 biolink:NamedThing pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. tmpte7i6ely_mondo_relaxed.owl PDHBD|pyruvate dehydrogenase E1-beta deficiency|pyruvate dehydrogenase complex E1 component subunit beta deficiency|pyruvate dehydrogenase E1-BETA deficiency MESH:C566729|Orphanet:765|Orphanet:255138|UMLS:C3279841|ICD10:E74.4|OMIM:614111 owl:Class MONDO:0030038 biolink:NamedThing glaucoma, primary closed-angle tmpte7i6ely_mondo_relaxed.owl GLCC|glaucoma, primary closed-angle|GLAUCOMA, PRIMARY CLOSED-ANGLE OMIM:618880 owl:Class MONDO:0003237 biolink:NamedThing adenomyoma of uterine corpus A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue. tmpte7i6ely_mondo_relaxed.owl adenomyoma of uterine body|adenomyoma of the uterine corpus|body of uterus adenomyoma|adenomyoma of the uterine body|adenomyoma of uterine corpus|adenomyoma of the corpus uteri|uterine corpus adenomyoma|adenomyoma of corpus uteri|adenomyoma of body of uterus|uterine body adenomyoma|adenomyoma of the body of uterus|corpus uteri adenomyoma UMLS:C1336903|DOID:4994|NCIT:C6338 owl:Class UBERON:0003540 biolink:NamedThing right lung terminal bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002187 biolink:NamedThing terminal bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006154 biolink:NamedThing colon mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon. tmpte7i6ely_mondo_relaxed.owl colonic mucosa-associated lymphoid tissue lymphoma|colon MALToma|colon MALT lymphoma|MALToma of colon|MALToma of the colon|MALT lymphoma of colon|MALT lymphoma of the colon|colonic MALT lymphoma|colonic MALToma EFO:1000186|NCIT:C5498|UMLS:C1333096 owl:Class UBERON:0010718 biolink:NamedThing pubic cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022639 biolink:NamedThing Cantu sanchez-corona Garcia-Cruz syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001082 https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome owl:Class MONDO:0026731 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 8 tmpte7i6ely_mondo_relaxed.owl CHNG8|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM:301033 owl:Class MONDO:0100064 biolink:NamedThing tyrosine hydroxylase deficiency Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa). tmpte7i6ely_mondo_relaxed.owl tyrosine 3-monooxygenase deficiency|tyrosine hydroxylase deficiency|tyrosine Hydroxylase deficiency|TH deficiency 2018-11-09 23:43:34+00:00 owl:Class MONDO:0016284 biolink:NamedThing primitive neuroectodermal tumor of the cervix uteri Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. tmpte7i6ely_mondo_relaxed.owl cervical peripheral neuroectodermal cancer|peripheral neuroectodermal cancer of cervix uteri|cervical malignant peripheral neuroectodermal tumor|malignant peripheral neuroectodermal tumor of the cervix uteri UMLS:CN201074|ICD10:C53.0|ICD10:C53.1|ICD10:C53.8|Orphanet:213812 owl:Class UBERON:0007616 biolink:NamedThing layer of synovial tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009316 biolink:NamedThing hair defect-photosensitivity-intellectual disability syndrome Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. tmpte7i6ely_mondo_relaxed.owl hair defect with photosensitivity and mental retardation|Calderon Gonzalez-Cantu syndrome|Calderón-González-Cantu syndrome|hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation 2022-05-01 GARD:0002582|MESH:C537628|Orphanet:1408|OMIM:234030 Reason: duplicate. This will be merged with MONDO:0022316 owl:Class MONDO:0018625 biolink:NamedThing classic stiff person syndrome tmpte7i6ely_mondo_relaxed.owl classic SPS Orphanet:443192|OMIM:184850|ICD10:G25.8|UMLS:CN237666 owl:Class MONDO:0003039 biolink:NamedThing nominal aphasia Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. tmpte7i6ely_mondo_relaxed.owl anomic aphasia|anomic aphasia (finding)|anomia MESH:D000849|NCIT:C34386|DOID:4541 owl:Class MONDO:0021231 biolink:NamedThing retina neoplasm A neoplasm (disease) that involves the retina. tmpte7i6ely_mondo_relaxed.owl neoplasm of retina|retina neoplasm (disease)|retinal neoplasm|neoplasm of the retina|retinal tumor|retina tumor|tumor of the retina|tumor of retina EFO:1000509|NCIT:C4800 owl:Class MONDO:0022884 biolink:NamedThing craniofacial dysostosis arthrogryposis progeroid appearence tmpte7i6ely_mondo_relaxed.owl Van Biervliet Hendrickx Van Ertbruggen syndrome GARD:0001573 https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence owl:Class MONDO:0018871 biolink:NamedThing acute myelomonocytic leukemia M4 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl AMMoL|acute M4 myeloid leukemia|AML-M4|AMML|AML M4|acute myelomonocytic leukemia|acute myelomonocytic leukemia (FAB type M4)|acute myeloblastic leukemia type 4 UMLS:C0023479|GARD:0000529|EFO:0000223|Orphanet:517|ICD10:C92.5|SCTID:110005000|ONCOTREE:AMML|NCIT:C7463|ICDO:9867/3|MedDRA:10000890 https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia owl:Class MONDO:0009054 biolink:NamedThing autosomal recessive cutis laxa type 2, classic type tmpte7i6ely_mondo_relaxed.owl autosomal recessive cutis laxa type 2, Debre type|ADCL2|ARCL2, classic type|autosomal recessive cutis laxa type 2, Debré type|Arcl2|autosomal recessive cutis laxa type II classic type|ARCL2, Debré type|ARCL2A|ARCL2, debre type|ARCL2, Debre type ICD10:Q82.8|OMIM:617402|SCTID:73856006|UMLS:CN204606|OMIM:219200|OMIM:617403|Orphanet:357074|DOID:0070136|MESH:C562632|OMIM:614434|Orphanet:357058 owl:Class MONDO:0010533 biolink:NamedThing Arts syndrome Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. tmpte7i6ely_mondo_relaxed.owl MRXS18|lethal ataxia with deafness and optic atrophy|lethal ataxia-deafness-optic atrophy|Arts|syndromic X-linked intellectual disability 18|intellectual disability, X-linked, syndromic 18|fatal X-linked ataxia with deafness and loss of vision|syndromic X-linked mental retardation Arts type|Arts syndrome|intellectual disability, X-linked, syndromic, Arts type|MRXSARTS|mental retardation, X-linked, syndromic 18|syndromic X-linked intellectual disability Arts type|ataxia, fatal X-linked, with deafness and loss of vision|syndromic X-linked mental retardation 18|X-linked fatal ataxia with deafness and loss of vision|mental retardation, X-linked, syndromic, Arts type UMLS:C0796028|ICD9:277.2|ICD10:E79.8|OMIM:301835|SCTID:702441001|Orphanet:1187|GARD:0008756|DOID:0050647|MESH:C535388 https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome owl:Class NCBITaxon:10358 biolink:NamedThing Cytomegalovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010523 biolink:NamedThing X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. tmpte7i6ely_mondo_relaxed.owl pigmentary disorder, reticulate, with systemic manifestations, X-linked|pigmentary disorder, reticulate, with systemic manifestations|familial cutaneous amyloidosis|XLPDR|PDR|X-linked cutaneous amyloidosis|amyloidosis, familial cutaneous|Partington disease ICD10:L99.0*|OMIM:301220|Orphanet:85453|ICD10:E85.0+|MESH:C564461|SCTID:717224002 owl:Class MONDO:0011675 biolink:NamedThing Charcot-Marie-Tooth Disease, axonal, type 2GG Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy dominant intermediate A|CMT2GG|Charcot-Marie-Tooth neuropathy, dominant Intermediate a|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|Charcot-Marie-Tooth disease dominant intermediate type A|CMTDIA|DI-CMTA|Charcot-Marie-Tooth disease dominant intermediate A|Di-Cmta|Charcot-Marie-Tooth disease, dominant intermediate A GARD:0012437|MESH:C564702|DOID:0110202|OMIM:606483|Orphanet:100043|UMLS:C1847896|ICD10:G60.0|SCTID:765744006 owl:Class HGNC:11005 biolink:NamedThing SLC2A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1352 biolink:NamedThing C8A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14074 biolink:NamedThing FMN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017239 biolink:NamedThing familial progressive hyper- and hypopigmentation Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. tmpte7i6ely_mondo_relaxed.owl FPHH Orphanet:280628|ICD10:L81.8|UMLS:C1840392|OMIM:145250 owl:Class MONDO:0020058 biolink:NamedThing gonosome anomaly tmpte7i6ely_mondo_relaxed.owl Sex-chromosome anomaly SCTID:95462004|ICD9:758.8|ICD9:758.81|Orphanet:98155 owl:Class OBO:CHR_9606-chr12q1 biolink:NamedThing 12q1 (Human) tmpte7i6ely_mondo_relaxed.owl 71100000 35500000 hg38 owl:Class MONDO:0006444 biolink:NamedThing teratoma with malignant transformation A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous. tmpte7i6ely_mondo_relaxed.owl dermoid cyst with malignant transformation|teratoma with malignant transformation|TMT ONCOTREE:TMT|ICDO:9084/3|GARD:0010646|UMLS:C0334523|EFO:1000563|NCIT:C4289 https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation owl:Class HGNC:2295 biolink:NamedThing CP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2621 biolink:NamedThing CYP2C19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018378 biolink:NamedThing osteonecrosis of the jaw An area of necrotic bone in the mandible or maxilla. tmpte7i6ely_mondo_relaxed.owl jaw osteonecrosis|osteonecrosis of jaw|ONJ Orphanet:399293|UMLS:C2711248|ICD10:K10.2|SCTID:441809006|NCIT:C63924|ICD9:733.45 owl:Class MONDO:0016049 biolink:NamedThing congenital myopathy, Paradas type Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. tmpte7i6ely_mondo_relaxed.owl ICD10:G71.2|Orphanet:199329 owl:Class UBERON:3000981 biolink:NamedThing limb external integument structure tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0015023 biolink:NamedThing decreased combustibility An decrease in combustibility. tmpte7i6ely_mondo_relaxed.owl noncombustible owl:Class MONDO:0006013 biolink:NamedThing visna disease Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie. tmpte7i6ely_mondo_relaxed.owl Visna/maedi virus caused disease or disorder|Visna/maedi virus infectious disease|Visna/maedi virus disease or disorder MESH:D016182|UMLS:C0080323|EFO:0007542 owl:Class MONDO:0018373 biolink:NamedThing avascular necrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. tmpte7i6ely_mondo_relaxed.owl AVN|avascular necrosis of bone ICD10:M87.9|ICD10:M87.0|ICD10:M87.1|Orphanet:399164|NCIT:C34841|ICD10:M87.2|ICD10:M87.8|SCTID:397758007|ICD10:M87.3 owl:Class MONDO:0002136 biolink:NamedThing eczematous dermatitis of eyelid tmpte7i6ely_mondo_relaxed.owl UMLS:C0155177|ICD9:373.31|SCTID:36259009|ICD10:H01.13|DOID:1893 owl:Class GO:0009068 biolink:NamedThing aspartate family amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpte7i6ely_mondo_relaxed.owl aspartate family amino acid catabolism|aspartate family amino acid degradation|aspartate family amino acid breakdown owl:Class GO:1903780 biolink:NamedThing negative regulation of cardiac conduction Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction. tmpte7i6ely_mondo_relaxed.owl inhibition of cardiac conduction|down-regulation of cardiac conduction|downregulation of cardiac conduction|down regulation of cardiac conduction owl:Class GO:1903779 biolink:NamedThing regulation of cardiac conduction Any process that modulates the frequency, rate or extent of cardiac conduction. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000402 biolink:NamedThing nasal vestibule tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15446 biolink:NamedThing PRPF31 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7982 biolink:NamedThing NR4A3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013704 biolink:NamedThing notochordal canal tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016515 biolink:NamedThing muscular layer of prostatic urethra tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006694 biolink:NamedThing cerebellum vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9141 biolink:NamedThing PMVK tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0017649 biolink:NamedThing dorsal body wall tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:482 biolink:NamedThing Neisseria tmpte7i6ely_mondo_relaxed.owl Gonococcus|"Merismopedia" Zopf 1885 PMID:7520730|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0016292 biolink:NamedThing nodular neuronal heterotopia tmpte7i6ely_mondo_relaxed.owl hereditary nodular heterotopia|nodular heterotopia|genetic nodular heterotopia OMIM:617201|OMIM:612881|GARD:0002661|OMIM:608097|SCTID:253151003|OMIM:608098|ICD10:Q04.8|OMIM:615544|Orphanet:2149|OMIM:300049 https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia owl:Class MONDO:0021011 biolink:NamedThing hereditary progressive chorea without dementia tmpte7i6ely_mondo_relaxed.owl hereditary progressive chorea without dementia|BHC|chorea, benign hereditary|BCH OMIM:118700|Orphanet:1429 owl:Class MONDO:0009781 biolink:NamedThing Onychotrichodysplasia and neutropenia tmpte7i6ely_mondo_relaxed.owl onycho-tricho-dysplasia-neutropenia syndrome|Onychotrichodysplasia and neutropenia OMIM:258360|Orphanet:2739|MESH:C537752|UMLS:C1850316|GARD:0010161 https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia owl:Class MONDO:0000239 biolink:NamedThing adiaspiromycosis Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens). tmpte7i6ely_mondo_relaxed.owl adiaspiromycosis|adiaspirosis|pulmonary adiaspiromycosis|haplosporangiosis ICD9:117.9|DOID:0050072|UMLS:C0259737|SCTID:23892008|MEDGEN:537148 owl:Class HP:0009810 biolink:NamedThing Abnormality of upper limb joint tmpte7i6ely_mondo_relaxed.owl Abnormality of the joints of the upper limbs|Abnormality of upper limb joint UMLS:C4021387 doelkens 2009-02-23T04:57:56Z human_phenotype owl:Class HP:0002817 biolink:NamedThing Abnormality of the upper limb An abnormality of the arm. tmpte7i6ely_mondo_relaxed.owl Abnormality of the upper limb|Abnormality of the arm UMLS:C4020900 HP:0003838 human_phenotype owl:Class MONDO:0018660 biolink:NamedThing hemophilia Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. tmpte7i6ely_mondo_relaxed.owl hemophilia MedDRA:10061992|NCIT:C3093|UMLS:C0684275|GARD:0010418|SCTID:90935002|Orphanet:448 owl:Class GO:2001222 biolink:NamedThing regulation of neuron migration Any process that modulates the frequency, rate or extent of neuron migration. tmpte7i6ely_mondo_relaxed.owl regulation of neuron guidance|regulation of neuronal migration|regulation of neuron chemotaxis owl:Class MONDO:0021653 biolink:NamedThing cutaneous focal mucinosis tmpte7i6ely_mondo_relaxed.owl focal mucinoses|focal mucinosis SCTID:110981005|UMLS:C0406659|ICD9:701.8 owl:Class CHEBI:36389 biolink:NamedThing saturated organic heteromonocyclic parent tmpte7i6ely_mondo_relaxed.owl saturated heteromonocyclic parent hydrides|saturated heteromonocyclic parent hydride|saturated organic heteromonocyclic parents owl:Class CHEBI:36388 biolink:NamedThing saturated organic heterocyclic parent tmpte7i6ely_mondo_relaxed.owl saturated organic heterocyclic parents|saturated heterocyclic parent hydride|saturated heterocyclic parent hydrides owl:Class MONDO:0022311 biolink:NamedThing cote katsantoni syndrome tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia osteosclerosis UMLS:C2931195|GARD:0001554|MESH:C536449 https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome owl:Class MONDO:0021758 biolink:NamedThing acquired agranulocytosis Agranulocytosis that is autoimmune in origin. tmpte7i6ely_mondo_relaxed.owl granulocytopenia, primary|neutropenia, malignant|agranulocytosis, acquired|agranulocytic angina MESH:C538171|SCTID:72050006|GARD:0005717 https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis owl:Class MONDO:0001609 biolink:NamedThing agranulocytosis A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl Granulopenia|Granulocytopenic disorder|granulocytopenia NCIT:C2863|UMLS:C0001824|ICD10:D70|MESH:D000380|SCTID:417672002|ICD9:288.8|DOID:12987|GARD:0006545 owl:Class HGNC:2568 biolink:NamedThing MAMLD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005188 biolink:NamedThing iatrogenic Kaposi's sarcoma A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment. tmpte7i6ely_mondo_relaxed.owl iatrogenic Kaposi's sarcoma|iatrogenic Kaposi sarcoma UMLS:C1334149|EFO:0002613|NCIT:C35873 owl:Class UBERON:0002749 biolink:NamedThing regional part of cerebellar cortex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8490 biolink:NamedThing ORC4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012807 biolink:NamedThing epidermolysis bullosa simplex 5C, with pyloric atresia A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. tmpte7i6ely_mondo_relaxed.owl EBS with pyloric atresia|epidermolysis bullosa simplex with pyloric atresia|EBS-PA|EBSPA SCTID:716701004|OMIM:612138|ICD10:Q81.0|MESH:C567408|Orphanet:158684|UMLS:C2677349 owl:Class MONDO:0004852 biolink:NamedThing gonococcal keratitis tmpte7i6ely_mondo_relaxed.owl SCTID:40149008|ICD9:098.43|UMLS:C0153214|ICD10:A54.33|DOID:9697 owl:Class MONDO:0016143 biolink:NamedThing qualitative or quantitative defects of gamma-sarcoglycan tmpte7i6ely_mondo_relaxed.owl gamma-sarcoglycanopathy Orphanet:207067 owl:Class MONDO:0000668 biolink:NamedThing autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. tmpte7i6ely_mondo_relaxed.owl DOID:0060138 owl:Class HP:0012384 biolink:NamedThing Rhinitis Inflammation of the nasal mucosa with nasal congestion. tmpte7i6ely_mondo_relaxed.owl Nasal inflammation UMLS:C0035455|UMLS:C2718128|MSH:D012220|SNOMEDCT_US:70076002 hecht 2013-10-19T05:37:08Z human_phenotype owl:Class HGNC:7121 biolink:NamedThing MKS1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045600 biolink:NamedThing positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. tmpte7i6ely_mondo_relaxed.owl activation of fat cell differentiation|stimulation of fat cell differentiation|up regulation of fat cell differentiation|positive regulation of adipocyte differentiation|upregulation of fat cell differentiation|positive regulation of adipocyte cell differentiation|up-regulation of fat cell differentiation owl:Class GO:0045598 biolink:NamedThing regulation of fat cell differentiation Any process that modulates the frequency, rate or extent of adipocyte differentiation. tmpte7i6ely_mondo_relaxed.owl regulation of adipocyte differentiation|regulation of adipocyte cell differentiation owl:Class GO:0001523 biolink:NamedThing retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. tmpte7i6ely_mondo_relaxed.owl retinoid metabolism owl:Class MONDO:0003248 biolink:NamedThing adult pineal parenchymal tumor A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult pineal parenchymal neoplasm|parenchymal tumor of the adult pineal gland|adult pineal gland neoplasm|parenchymal neoplasm of the adult pineal gland|pineal parenchymal cell neoplasm of adults|adult pineal gland tumor|adult pineal parenchymal cell tumor|parenchymal tumor of adult pineal gland|pineal parenchymal cell tumor|parenchymal neoplasm of adult pineal gland|adult pineal parenchymal cell neoplasm|adult pineal parenchymal tumor DOID:5031|NCIT:C8273|UMLS:C0280794 owl:Class MONDO:0002642 biolink:NamedThing trochlear nerve neoplasm A neoplasm involving a trochlear nerve. tmpte7i6ely_mondo_relaxed.owl neoplasm of the trochlear nerve|tumor of the trochlear nerve|IVth cranial nerve neoplasms|tumor of trochlear nerve|tumor of the fourth cranial nerve|fourth cranial nerve tumor|neoplasm of trochlear nerve|trochlear nerve tumors|fourth cranial nerve neoplasms|fourth cranial nerve tumors|fourth cranial nerve neoplasm|trochlear nerve neoplasm (disease)|trochlear nerve tumor|trochlear nerve neoplasms|IVth cranial nerve tumors|neoplasm of the fourth cranial nerve|neoplasm of fourth cranial nerve|tumor of fourth cranial nerve NCIT:C5825|SCTID:126970001|UMLS:C1263896|ICD9:239.7|DOID:3421 owl:Class NCBITaxon:6657 biolink:NamedThing Crustacea tmpte7i6ely_mondo_relaxed.owl crustaceans GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:197562 biolink:NamedThing Pancrustacea tmpte7i6ely_mondo_relaxed.owl PMID:11557979|PMID:10874751|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009577 biolink:NamedThing megalocornea-intellectual disability syndrome Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. tmpte7i6ely_mondo_relaxed.owl megalocornea-mental retardation syndrome|Neuhauser syndrome|megalocornea intellectual disability syndrome|NeuhC$user syndrome|Neuhäuser syndrome|megalocornea mental retardation syndrome|MMR syndrome|megalocornea-intellectual disability syndrome OMIM:249310|MESH:C536143|UMLS:C0796086|GARD:0003448|ICD10:Q87.8|Orphanet:2479|SCTID:733522005 https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome owl:Class MONDO:0010528 biolink:NamedThing anosmia Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions. tmpte7i6ely_mondo_relaxed.owl anosmia|anosmia (disease) anosmia (disease) HP:0000458|MESH:D000857|SCTID:44169009|OMIM:301700|UMLS:C0003126 https://github.com/monarch-initiative/mondo/issues/3834 owl:Class MONDO:0019311 biolink:NamedThing woolly hair nevus Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. tmpte7i6ely_mondo_relaxed.owl wooly hair nevus UMLS:C0343114|Orphanet:79414|SCTID:239124001|ICD10:D23.4|OMIM:162900 owl:Class GO:0002027 biolink:NamedThing regulation of heart rate Any process that modulates the frequency or rate of heart contraction. tmpte7i6ely_mondo_relaxed.owl regulation of rate of heart contraction|regulation of heart contraction rate|cardiac chronotropy owl:Class UBERON:0004277 biolink:NamedThing eye muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023171 biolink:NamedThing foix chavany Marie syndrome Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. tmpte7i6ely_mondo_relaxed.owl opercular syndrome, anterior|congenital Foix-Chavany-Marie syndrome|foix chavany Marie syndrome|anterior opercular syndrome|bilateral anterior opercular syndrome|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|pseudobulbar paralysis, cortical type|facio-pharyngo-glosso-masticatory diplegia|congenital Foix-Chavany-Marie syndrome (subtype)|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis GARD:0002351|MESH:C537069|Orphanet:2048|SCTID:720956003|UMLS:C2931412 https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome owl:Class GO:2001141 biolink:NamedThing regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. tmpte7i6ely_mondo_relaxed.owl regulation of RNA biosynthesis|regulation of RNA synthesis|regulation of RNA formation|regulation of RNA anabolism owl:Class MONDO:0015682 biolink:NamedThing primary peritoneal tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:168803|UMLS:CN200180 owl:Class MONDO:0010639 biolink:NamedThing laryngeal abductor paralysis-intellectual disability syndrome Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely. tmpte7i6ely_mondo_relaxed.owl laryngeal abductor paralysis|Plott syndrome|vocal cord dysfunction, familial ICD10:J38.0|SCTID:724178000|Orphanet:2375|OMIM:308850|UMLS:CN201604 X linked version based on information from Joanna. owl:Class CHEBI:25944 biolink:NamedThing pesticide Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests. tmpte7i6ely_mondo_relaxed.owl Pestizid|pesticides|pesticide|Pestizide owl:Class MONDO:0015259 biolink:NamedThing brachydactyly-mesomelia-intellectual disability-heart defects syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). tmpte7i6ely_mondo_relaxed.owl brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face|brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face|Stratton-Garcia-Young syndrome UMLS:CN199165|Orphanet:1277|GARD:0005036|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome owl:Class MONDO:0000680 biolink:NamedThing astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. tmpte7i6ely_mondo_relaxed.owl somatosensory agnosia|astereognosia|astereognosia (disease) astereognosia (disease) HP:0010527|DOID:0060150 owl:Class MONDO:0006267 biolink:NamedThing liver cavernous hemangioma A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females. tmpte7i6ely_mondo_relaxed.owl cavernous hemangioma of liver|liver cavernous hemangioma NCIT:C96839|EFO:1000322|UMLS:C3282904 owl:Class GO:0045939 biolink:NamedThing negative regulation of steroid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpte7i6ely_mondo_relaxed.owl downregulation of steroid metabolic process|inhibition of steroid metabolic process|down-regulation of steroid metabolic process|down regulation of steroid metabolic process|negative regulation of steroid metabolism owl:Class MONDO:0011934 biolink:NamedThing dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). tmpte7i6ely_mondo_relaxed.owl familial dermatofibrosarcoma protuberans (subtype)|DFSP|metastatic dermatofibrosarcoma protuberans (subtype)|dermatofibrosarcoma protuberans|dermatofibrosarcoma|giant cell fibroblastoma OMIM:607907|SCTID:276799004|NCIT:C4683|ICDO:8832/3|MedDRA:10057070|UMLS:C0392784|DOID:3507|GARD:0009569|ONCOTREE:DFSP|MESH:D018223|Orphanet:31112|ICD10:C49.9 https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans owl:Class UBERON:0006652 biolink:NamedThing muscular layer of vagina tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000045 biolink:NamedThing foreskin melanocyte Any melanocyte that is part of a prepuce of penis. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-07-09T00:45:07Z cell owl:Class NCBITaxon:2732416 biolink:NamedThing Cressdnaviricota tmpte7i6ely_mondo_relaxed.owl eukaryotic Rep-encoding ssDNA viruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:2593 biolink:NamedThing CYP17A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014768 biolink:NamedThing superior palpebral vein tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001141 biolink:NamedThing wheat food product tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003599 biolink:NamedThing tail connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018198 biolink:NamedThing acute encephalopathy with biphasic seizures and late reduced diffusion Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. tmpte7i6ely_mondo_relaxed.owl AESD|acute infantile encephalopathy predominantly affecting the frontal lobes|AIEF ICD10:G40.4|SCTID:766044005|Orphanet:363549 owl:Class GO:0050432 biolink:NamedThing catecholamine secretion The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008177 biolink:NamedThing extramammary Paget disease A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. tmpte7i6ely_mondo_relaxed.owl EMPD|Paget disease, EXTRAMAMMARY|Paget's disease of the skin|Paget's skin disease|extramammary Paget disease|Paget's disease of skin|Extramammary Paget's disease|Paget disease Extramammary|cutaneous Paget's disease GARD:0004192|EFO:1000249|MedDRA:10068223|OMIM:167300|MESH:D010145|NCIT:C3302|UMLS:C0030186|MedDRA:10033366|ICDO:8542/3|Orphanet:2800|ONCOTREE:EMPD|ICD10:C44.5 owl:Class MONDO:0011474 biolink:NamedThing progressive familial heart block type IB Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene. tmpte7i6ely_mondo_relaxed.owl heart block progressive familial type 1B|TRPM4 progressive familial heart block|progressive familial heart block, type IB|progressive familial heart block caused by mutation in TRPM4|Pfhbib|progressive familial heart block, type 1B|PFHB1B|progressive familial heart block type 1B SCTID:698250005|DOID:0111076|GARD:0002610|MESH:C567037|OMIM:604559|ICD9:426.6|Orphanet:871 owl:Class MONDO:0016937 biolink:NamedThing partial duplication of chromosome 19 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome type 19|partial trisomy of chromosome 19 SCTID:726358004|Orphanet:262687 owl:Class HGNC:3588 biolink:NamedThing FANCG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003379 biolink:NamedThing rectum leiomyosarcoma An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl rectum leiomyosarcoma|rectal leiomyosarcoma|leiomyosarcoma of the rectum|leiomyosarcoma of rectum DOID:5297|UMLS:C1335683|NCIT:C5549 owl:Class MONDO:0001938 biolink:NamedThing vulvar dystrophy A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. tmpte7i6ely_mondo_relaxed.owl dystrophy of vulva UMLS:C0013426|DOID:14292|ICD10:N90.4|ICD9:624.09|NCIT:C34565|SCTID:51689003|ICD9:624.0 owl:Class MONDO:8000018 biolink:NamedThing benign paroxysmal positional vertigo Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. tmpte7i6ely_mondo_relaxed.owl vertigo, benign recurrent|benign paroxysmal positional nystagmus|BPPV|vertigo, benign paroxysmal positional|familial vestibulopathy|benign paroxysmal positional vertigo|vestibulopathy, familial|familial benign recurrent vertigo|BRV OMIM:193007|ICD9:386.11|GARD:0005915|UMLS:C0155502|SCTID:111541001|DOID:13941 owl:Class MONDO:0002323 biolink:NamedThing cherry hemangioma A capillary hemangioma of the skin, presenting as a red papular lesion. tmpte7i6ely_mondo_relaxed.owl Senile naevus of skin|Senile hemangioma|cherry angioma|Senile angioma|cherry hemangioma NCIT:C4390|UMLS:C0343082|DOID:2495|SCTID:5050001 owl:Class MONDO:0004641 biolink:NamedThing skin carcinoma in situ A in situ carcinoma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl zone of skin in situ carcinoma|skin carcinoma in situ|stage 0 nonmelanoma skin carcinoma in situ|carcinoma in situ of zone of skin|stage 0 skin cancer aJCC v7|skin carcinoma stage 0|stage 0 zone of skin carcinoma|carcinoma in situ of skin|carcinoma in situ of the skin|stage 0 skin carcinoma|carcinoma of skin stage 0|skin cancer stage 0|nonmelanoma carcinoma in situ|cutaneous carcinoma in situ|carcinoma of the skin stage 0|stage 0 skin cancer|zone of skin carcinoma in situ|stage 0 skin cancer aJCC v6 NCIT:C3640|ICD10:D04.4|SCTID:92749008|ICD9:232.6|ICD10:D04.3|ICD9:232.7|ICD9:232.3|ICD9:232.8|ICD9:232.9|ICD10:D04.9|DOID:8687|ICD10:D04.0|ICD9:232.0|ICD9:232.5|ICD10:D04.7|ICD10:D04.2|ICD9:232.4|ICD9:232|ICD9:232.2|ICD10:D04|UMLS:C0154073|ICD10:D04.6 owl:Class GO:0050818 biolink:NamedThing regulation of coagulation Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpte7i6ely_mondo_relaxed.owl regulation of clotting owl:Class MONDO:0004147 biolink:NamedThing noninvasive malignant thymoma A morphologically malignant thymoma that is entirely confined within the capsule. tmpte7i6ely_mondo_relaxed.owl malignant thymoma, noninvasive|thymoma malignant noninvasive DOID:7214|NCIT:C9080|UMLS:C0278847 owl:Class MONDO:0001744 biolink:NamedThing angle-closure glaucoma The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. tmpte7i6ely_mondo_relaxed.owl Narrow cleft glaucoma|ACG - angle-closure glaucoma|angle closure glaucoma|primary open-angle glaucoma with narrow angles SCTID:33647009|MESH:D015812|NCIT:C34639|SCTID:392291006|UMLS:C0017605|DOID:13550 owl:Class NCBITaxon:439488 biolink:NamedThing ssRNA viruses tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2585030 biolink:NamedThing unclassified Riboviria tmpte7i6ely_mondo_relaxed.owl unclassified RNA viruses GC_ID:1 NCBITaxon:1922347 ncbi_taxonomy owl:Class MONDO:0008432 biolink:NamedThing ketone compounds, ability to smell tmpte7i6ely_mondo_relaxed.owl ketone compounds, ability to smell 2022-04-01 OMIM:182270 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HP:0003679 biolink:NamedThing Pace of progression tmpte7i6ely_mondo_relaxed.owl UMLS:C4025580 human_phenotype owl:Class HP:0031797 biolink:NamedThing Clinical course The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. tmpte7i6ely_mondo_relaxed.owl Natural history of disease 2018-02-25 14:55:46+00:00 peter human_phenotype owl:Class GO:0032222 biolink:NamedThing regulation of synaptic transmission, cholinergic Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017048 biolink:NamedThing pseudomyxoma peritonei Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. tmpte7i6ely_mondo_relaxed.owl pseudomyxoma peritonei (morphologic abnormality)|well differentiated peritoneal mucinous adenocarcinoma|gelatinous ascites|PMP|Adenomucinosis|mucinous ascites|syndrome of pseudomyxoma peritonei|Myxoma peritonei|peritoneal cavity pseudomyxoma peritonei|pseudomyxoma peritonei GARD:0007488|ICD10:C78.6|ICDO:8480/6|MESH:D011553|SCTID:307601000|GARD:0002448|EFO:0007456|UMLS:C0033822|MedDRA:10037138|NCIT:C3345|Orphanet:26790|DOID:3559 owl:Class MONDO:0007901 biolink:NamedThing levator-medial rectus synkinesis tmpte7i6ely_mondo_relaxed.owl oculomotor-levator synkinesis|levator-medial rectus synkinesis OMIM:151610|MESH:C563625|UMLS:C1835403 owl:Class UBERON:0010744 biolink:NamedThing sacral vertebra pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011095 biolink:NamedThing vertebra pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003573 biolink:NamedThing pleomorphic carcinoma A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism. tmpte7i6ely_mondo_relaxed.owl pleomorphic carcinoma|pleomorphic carcinoma (morphologic abnormality) UMLS:C0334233|NCIT:C4094|ICDO:8022/3|DOID:5662 owl:Class NCBITaxon:12091 biolink:NamedThing Hepatovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:12058 biolink:NamedThing Picornaviridae tmpte7i6ely_mondo_relaxed.owl Picornavirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019900 biolink:NamedThing non-distal monosomy 12q tmpte7i6ely_mondo_relaxed.owl non-distal deletion 12q|non-distal monosomy type 12q|non-telomeric monosomy 12q Orphanet:96160|ICD10:Q93.5 owl:Class MONDO:0010199 biolink:NamedThing white forelock with malformations White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. tmpte7i6ely_mondo_relaxed.owl white forelock with malformations Orphanet:2475|ICD10:Q87.8|UMLS:C1848463|SCTID:763619009|OMIM:277740|GARD:0010081|MESH:C536700 https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations owl:Class MONDO:0003556 biolink:NamedThing endometrial adenosquamous carcinoma A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components. tmpte7i6ely_mondo_relaxed.owl endometrial adenosquamous carcinoma|adenosquamous carcinoma of endometrium|endometrial adenosquamous cancer|adenosquamous carcinoma of the endometrium|endometrium adenosquamous carcinoma DOID:5631|GARD:0013107|UMLS:C3896969|NCIT:C114656|EFO:1001952 owl:Class MONDO:0013836 biolink:NamedThing familial steroid-resistant nephrotic syndrome with sensorineural deafness tmpte7i6ely_mondo_relaxed.owl coenzyme Q10 deficiency, primary, type 6|coenzyme Q10 deficiency, primary, 6|COQ10D6 Orphanet:280406|ICD10:N04.8|DOID:0070243|UMLS:C3553349|OMIM:614650 owl:Class HP:0000078 biolink:NamedThing Abnormality of the genital system An abnormality of the genital system. tmpte7i6ely_mondo_relaxed.owl Genital anomalies|Genital abnormality|Genital defects|Genital abnormalities|Abnormality of the reproductive system UMLS:C0281966|UMLS:C0744356 human_phenotype owl:Class HP:0000119 biolink:NamedThing Abnormality of the genitourinary system The presence of any abnormality of the genitourinary system. tmpte7i6ely_mondo_relaxed.owl Urogenital abnormalities|Genitourinary abnormality|Abnormality of the GU system|Genitourinary dysplasia|Urogenital anomalies|Genitourinary tract anomalies|Genitourinary disease|Genitourinary tract malformation SNOMEDCT_US:287085006|UMLS:C0080276|UMLS:C0042063|SNOMEDCT_US:42030000|MSH:D014564|UMLS:C4020895 HP:0008658|HP:0008713|HP:0008688|HP:0008704 human_phenotype owl:Class UBERON:0009580 biolink:NamedThing diencephalon mantle layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013282 biolink:NamedThing alpha 1-antitrypsin deficiency Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. tmpte7i6ely_mondo_relaxed.owl AATD|Alpha 1 antitrypsin deficiency|alpha-1-antitrypsin deficiency|AAT deficiency|alpha 1-antitrypsin deficiency|deficiency in Alpa-1-proteinase inhibitor|A1ATD|ALPHA-1-antitrypsin deficiency|A-1ATD|Alpha-1 antitrypsin deficiency|A1AD|A1AT deficiency DOID:13372|NCIT:C84397|SCTID:30188007|MedDRA:10001806|MESH:D019896|Orphanet:60|OMIM:613490|GARD:0005784|UMLS:C0221757|ICD9:273.4|ICD10:E88.0|ICD10:E88.01 https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency owl:Class MONDO:0008567 biolink:NamedThing thyroid cancer, nonmedullary, 1 tmpte7i6ely_mondo_relaxed.owl papillary carcinoma of thyroid|thyroid cancer, nonmedullary, type 1|NMTC1|familial nonmedullary thyroid cancer, papillary|nonmedullary thyroid carcinoma, papillary|thyroid cancer, nonmedullary, 1 UMLS:C0238463|Orphanet:146|OMIM:188550|Orphanet:319487 owl:Class MONDO:0019994 biolink:NamedThing maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpte7i6ely_mondo_relaxed.owl UPD(13)mat|maternal uniparental disomy of chromosome type 13 UMLS:CN036719|ICD10:Q99.8|Orphanet:97678 owl:Class MONDO:0100412 biolink:NamedThing acute myeloid leukemia, monoallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.) tmpte7i6ely_mondo_relaxed.owl AML, monoallelic CEBPA gene mutation|AML, C/EBPalpha Monoallelic Gene Mutation|AML, CEBPA Monoallelic Mutation|AML, CEBP Monoallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, moCEBPA|AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation|AML, CEBPA Monoallelic Gene Mutation|AML, C/EBP-Alpha Monoallelic Gene Mutation NCIT:C168774 owl:Class CHEBI:36841 biolink:NamedThing 11-hydroxy steroid tmpte7i6ely_mondo_relaxed.owl 11-hydroxy steroids owl:Class MONDO:0016459 biolink:NamedThing 2q23.1 microdeletion syndrome The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. tmpte7i6ely_mondo_relaxed.owl Del(2)(q23.1)|monosomy 2q23.1|chromosome 2q23.1 microdeletion syndrome|pseudo-Angelman syndrome ICD10:Q93.5|OMIM:156200|GARD:0010998|SCTID:719657001|Orphanet:228402 Editor note: TODO check ORDO xref to OMIM https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome owl:Class MONDO:0019205 biolink:NamedThing trichodysplasia-amelogenesis imperfecta syndrome The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl UMLS:CN205796|Orphanet:79129 owl:Class MONDO:0008217 biolink:NamedThing pelvis-shoulder dysplasia Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. tmpte7i6ely_mondo_relaxed.owl Scapuloiliac dysostosis|pelvis-shoulder dysplasia|Kosenow syndrome UMLS:C1868508|SCTID:719298001|OMIM:169550|ICD10:Q87.5|MESH:C566811|Orphanet:2839 owl:Class HP:0000939 biolink:NamedThing Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:64859006|UMLS:C0029456|MSH:D010024 Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. HP:0002774 human_phenotype owl:Class MONDO:0012716 biolink:NamedThing spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome|fantasy Island syndrome|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech|SED-BDS|tattoo dysplasia|Tatoo dysplasia|Sed-BDS GARD:0010629|UMLS:C2673649|SCTID:718765003|OMIM:611717|MESH:C567128|ICD10:Q77.7|Orphanet:163654 owl:Class GO:0070330 biolink:NamedThing aromatase activity Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. tmpte7i6ely_mondo_relaxed.owl estrogen synthetase activity owl:Class GO:0016712 biolink:NamedThing oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor. tmpte7i6ely_mondo_relaxed.owl microsomal p450 activity|cytochrome p450 activity|unspecific monooxygenase activity|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidizing)|flavoprotein monooxygenase activity|cytochrome P450 CYP19|microsomal monooxygenase activity|aryl-4-monooxygenase activity|aryl hydrocarbon hydroxylase activity|flavoprotein-linked monooxygenase activity|microsomal P-450|xenobiotic monooxygenase activity owl:Class MONDO:0011771 biolink:NamedThing distal spinal muscular atrophy type 3 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. tmpte7i6ely_mondo_relaxed.owl distal hereditary motor neuropathy type 3 and type 4|neuronopathy, distal hereditary motor, type 3|dHMN4|dSMA3|HMN 4|dHMN3|spinal muscular atrophy, distal, autosomal recessive, 3|neuropathy, distal hereditary motor, type 4|HMN 3|autosomal recessive distal spinal muscular atrophy type 3|dHMN3 and dHMN4|neuronopathy, distal hereditary motor, type 4 UMLS:C1846823|MESH:C564626|ICD10:G12.2|OMIM:607088|Orphanet:139547|DOID:0111211 owl:Class HGNC:13829 biolink:NamedThing WNT10A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16700 biolink:NamedThing ZFPM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0027091 biolink:NamedThing xanthogranulomatous sialadenitis tmpte7i6ely_mondo_relaxed.owl xanthogranulomatous salivary gland disease|sialadenitis, xanthogranulomatous GARD:0009739 owl:Class MONDO:0010406 biolink:NamedThing chromosome Xp11.22 duplication syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 31|mental retardation, X-linked 17|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17|intellectual disability, X-linked 31 Orphanet:777|OMIM:300705 owl:Class HGNC:10933 biolink:NamedThing SLC17A5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024674 biolink:NamedThing Pancoast syndrome A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. tmpte7i6ely_mondo_relaxed.owl syndrome, Pancoast|Pancoast syndrome|Pancoast's syndrome|tumor, Pancoast|Pancoast tumor|syndrome, Pancoast's|Pancoasts syndrome|superior pulmonary sulcus syndrome MESH:D010178|UMLS:C0030271|NCIT:C55815|SCTID:278065000 owl:Class NCBITaxon:28450 biolink:NamedThing Burkholderia pseudomallei tmpte7i6ely_mondo_relaxed.owl Bacterium whitmori|Malleomyces pseudomallei|Bacillus pseudomallei|Pseudomonas pseudomallei|Loefflerella pseudomallei GC_ID:11|PMID:1283774|PMID:12734250 NCBITaxon:1435366|NCBITaxon:1487955|NCBITaxon:1487954|NCBITaxon:1439853|NCBITaxon:1435988|NCBITaxon:1435368 ncbi_taxonomy owl:Class NCBITaxon:111527 biolink:NamedThing pseudomallei group tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007777 biolink:NamedThing hypertaurinuric cardiomyopathy tmpte7i6ely_mondo_relaxed.owl hypertaurinuric cardiomyopathy OMIM:145350|MESH:C564157|UMLS:C1840385 owl:Class GO:0016840 biolink:NamedThing carbon-nitrogen lyase activity Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99). tmpte7i6ely_mondo_relaxed.owl other carbon-nitrogen lyase activity owl:Class NCBITaxon:2732533 biolink:NamedThing Zurhausenvirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017716 biolink:NamedThing disorder of carnitine cycle and carnitine transport tmpte7i6ely_mondo_relaxed.owl UMLS:CN227184|ICD10:E71.3|Orphanet:309130 owl:Class MONDO:0011522 biolink:NamedThing hereditary spastic paraplegia 14 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 14, autosomal recessive|hereditary spastic paraplegia type 14|autosomal recessive spastic paraplegia 14|spastic paraplegia 14|SPG14|autosomal recessive spastic paraplegia type 14 GARD:0009589|DOID:0110767|OMIM:605229|MESH:C537486|Orphanet:100995|ICD10:G11.4|UMLS:C1854568 owl:Class UBERON:0013630 biolink:NamedThing short bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024797 biolink:NamedThing adult brain stem neoplasm A brainstem neoplasm that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl tumor of the adult brain stem|neoplasm of adult brainstem|brainstem neoplasm of adults|neoplasm of the adult brainstem|neoplasm of adult brain stem|adult brain stem neoplasm|adult brainstem tumor|neoplasm of the adult brain stem|tumor of the adult brainstem|tumor of adult brain stem|adult brain stem tumor|adult brainstem neoplasm|tumor of adult brainstem NCIT:C5967|UMLS:C1332192 owl:Class MONDO:0007406 biolink:NamedThing cryofibrinogenemia, familial primary tmpte7i6ely_mondo_relaxed.owl cryofibrinogenemia, familial primary OMIM:123540|MESH:C565142|UMLS:C1852457 owl:Class MONDO:0022904 biolink:NamedThing cryofibrinogenemia tmpte7i6ely_mondo_relaxed.owl cryofibrinogenemia ICD9:286.9|MESH:C536218|SCTID:10934005|UMLS:C0272263|GARD:0009908 https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia owl:Class NCBITaxon:222544 biolink:NamedThing Sordariomycetidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147550 biolink:NamedThing Sordariomycetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:1260 biolink:NamedThing CFAP410 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035201 biolink:NamedThing gastrocolic ligament tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034696 biolink:NamedThing fold of peritoneum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015465 biolink:NamedThing craniometaphyseal dysplasia Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. tmpte7i6ely_mondo_relaxed.owl OMIM:218300|OMIM:218400|ICD9:756.89|SCTID:36601008|OMIM:122860|OMIMPS:123000|ICD10:Q78.8|DOID:0080033|OMIM:614099|OMIM:614378|OMIM:123000|Orphanet:1522 owl:Class MONDO:0009789 biolink:NamedThing nonarteritic anterior ischemic optic neuropathy, susceptibility to tmpte7i6ely_mondo_relaxed.owl susceptibility to nonarteritic anterior ischemic optic neuropathy|optic neuropathy, anterior ischemic, susceptibility to|Naion, susceptibility to|nonarteritic anterior ischemic optic neuropathy, susceptibility to OMIM:258660 owl:Class MONDO:0024881 biolink:NamedThing secondary malignant neoplasm A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. tmpte7i6ely_mondo_relaxed.owl secondary cancer|secondary malignancy|secondary malignant neoplasm ICD9:199.1|NCIT:C4968|ICD9:198.89|SCTID:128462008 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0005355 biolink:NamedThing coronary restenosis Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. tmpte7i6ely_mondo_relaxed.owl EFO:0004224|UMLS:C0948480|MESH:D023903|DOID:4247 owl:Class MONDO:0006715 biolink:NamedThing coronary stenosis Narrowing of the coronary artery lumen diameter. tmpte7i6ely_mondo_relaxed.owl coronary artery stenosis EFO:1000882|SCTID:233970002|MESH:D023921|DOID:4248|MedDRA:10011089|UMLS:C0242231|NCIT:C80427 owl:Class MONDO:0019468 biolink:NamedThing T-cell prolymphocytic leukemia A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. tmpte7i6ely_mondo_relaxed.owl T cell chronic lymphocytic leukemia|T cell CLL|T-cell prolymphocytic leukemia|chronic T-cell leukemia|CLL, T-cell|T-cell chronic lymphocytic leukemia|TPLL|T-cell CLL|T cell prolymphocytic leukemia|chronic T-cell lymphocytic leukemia|T prolymphocytic leukemia|T-PLL|leukemia, T-cell, chronic NCIT:C4752|SCTID:277567002|EFO:1000560|ICDO:9834/3|Orphanet:86871|SCTID:277545003|MedDRA:10042985|MESH:D015461|GARD:0008224|ICD10:C91.6|UMLS:C0023494|NCIT:C70649|UMLS:C2363142|ONCOTREE:TPLL owl:Class MONDO:0001821 biolink:NamedThing hypoactive sexual desire disorder A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition. tmpte7i6ely_mondo_relaxed.owl lack or loss of sexual desire SCTID:270903007|DOID:13868|ICD9:302.71|ICD10:F52.0|NCIT:C94337 owl:Class MONDO:0008537 biolink:NamedThing telecanthus tmpte7i6ely_mondo_relaxed.owl telecanthus ICD10:Q10.3|MESH:C562941|Orphanet:98575|OMIM:187350 owl:Class MONDO:0010671 biolink:NamedThing microphthalmia, syndromic 1 tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic 1|microphthalmia syndromic 4|ANOP1, formerly|MCOPS4, formerly|Lenz dysplasia|MCOPS4|Lenz microphthalmia syndrome|syndromic microphthalmia type 4|MAA, formerly|MCOPS1|microphthalmia with ankyloblepharon and intellectual disability|microphthalmia, syndromic 4, formerly|microphthalmia, syndromic type 1|microphthalmia with ankyloblepharon and mental retardation Orphanet:85275|ICD10:Q11.2|SCTID:438504004|SCTID:717222003|MESH:C564457|MESH:C537464|OMIM:309800|GARD:0005066|ICD9:759.89|Orphanet:568 https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 owl:Class MONDO:0008810 biolink:NamedThing familial apolipoprotein C-II deficiency tmpte7i6ely_mondo_relaxed.owl Apoc2 deficiency|apolipoprotein C-II deficiency|familial apoC-II deficiency|hyperlipoproteinemia, type IB|hyperlipoproteinemia, type 1B|C-II Anapolipoproteinemia|familial apolipoprotein C-II deficiency UMLS:C1720779|UMLS:C0268199|OMIM:207750|ICD10:E78.3|Orphanet:309020|SCTID:33513003|DOID:0111418 owl:Class MONDO:0009376 biolink:NamedThing carbamoyl phosphate synthetase I deficiency disease Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. tmpte7i6ely_mondo_relaxed.owl CPS1 deficiency|carbamyl phosphate synthetase (CPS) deficiency|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|carbamoyl-phosphate synthetase deficiency|carbamoyl-phosphate synthase|carbamoyl phosphate synthetase 1 deficiency|CPS 1 deficiency|carbamoyl-phosphate synthetase I deficiency|CPS I deficiency|CPS1D|carbamoyl-phosphate synthetase 1 deficiency|carbamoyl phosphate synthetase deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|carbamoyl phosphate synthetase I deficiency disease|deficiency disease ICD10:E72.2|OMIM:237300|NCIT:C84612|MedDRA:10058297|MESH:D020165|SCTID:62522004|Orphanet:147|DOID:9280|GARD:0007269|EFO:0007193 owl:Class UBERON:0005006 biolink:NamedThing mucosa of renal pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8966 biolink:NamedThing PIGL tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22q11 biolink:NamedThing 22q11 (Human) tmpte7i6ely_mondo_relaxed.owl 25500000 15000000 hg38 owl:Class MONDO:0018255 biolink:NamedThing spondylometaphyseal dysplasia, Czarny-Ratajczak type tmpte7i6ely_mondo_relaxed.owl Orphanet:370019|ICD10:Q77.8 owl:Class GO:0008484 biolink:NamedThing sulfuric ester hydrolase activity Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of a sulfuric ester bond, an ester formed from sulfuric acid, O=SO(OH)2. tmpte7i6ely_mondo_relaxed.owl sulphuric ester hydrolase activity|sulfatase activity owl:Class MONDO:0014594 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 67 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene. tmpte7i6ely_mondo_relaxed.owl DFNA67|OSBPL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 67|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|autosomal dominant deafness 67|autosomal dominant nonsyndromic deafness 67|deafness, autosomal dominant 67|deafness, autosomal dominant type 67 DOID:0110588|ICD10:H90.3|OMIM:616340|UMLS:C4084712 owl:Class NCBITaxon:1678143 biolink:NamedThing Orthohepevirus A tmpte7i6ely_mondo_relaxed.owl HEV|Hepatitis E virus HEV|Hepatitis E virus GC_ID:1 NCBITaxon:12461 ncbi_taxonomy owl:Class NCBITaxon:1678141 biolink:NamedThing Orthohepevirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr2q37 biolink:NamedThing 2q37 (Human) tmpte7i6ely_mondo_relaxed.owl 242193529 230100000 hg38 owl:Class MONDO:0017247 biolink:NamedThing communicating congenital bronchopulmonary-foregut malformation tmpte7i6ely_mondo_relaxed.owl ICD10:Q33.2|Orphanet:280821 owl:Class MONDO:0100099 biolink:NamedThing retrograde cricopharyngeus dysfunction A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD. tmpte7i6ely_mondo_relaxed.owl R-CPD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3712 owl:Class MONDO:0024496 biolink:NamedThing tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. tmpte7i6ely_mondo_relaxed.owl grade 2/3 NCIT:C94678 owl:Class MONDO:0006518 biolink:NamedThing sporadic Creutzfeld Jacob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years. tmpte7i6ely_mondo_relaxed.owl EFO:1000656 owl:Class MONDO:0018552 biolink:NamedThing urachal sinus Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. tmpte7i6ely_mondo_relaxed.owl ICD10:Q64.4|Orphanet:431344|UMLS:CN237553|SCTID:451030007 owl:Class HP:0001883 biolink:NamedThing Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. tmpte7i6ely_mondo_relaxed.owl Talipes foot deformities MSH:D000070558|UMLS:C1301937|UMLS:C3552713|SNOMEDCT_US:398309008 Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down. human_phenotype owl:Class HP:0005656 biolink:NamedThing Positional foot deformity A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025161 human_phenotype owl:Class MONDO:0004354 biolink:NamedThing neonatal leukemia Leukemia that occurs during the neonatal period. tmpte7i6ely_mondo_relaxed.owl neonatal leukemia NCIT:C3845|UMLS:C0235813|DOID:7756 owl:Class MONDO:0006590 biolink:NamedThing palmoplantar keratosis A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis. tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma|keratoderma, palmoplantar|keratosis palmaris et plantaris ICD10:L85.2|EFO:1000745|SCTID:706885006|ICD9:757.39|NCIT:C34748|DOID:3390|GARD:0008167 owl:Class MONDO:0020511 biolink:NamedThing precursor B-cell acute lymphoblastic leukemia The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl precursor B-cell acute lymphocytic leukemia|acute B-cell lymphocytic leukemia|B-cell lymphoblastic leukemia|B cell precursor type acute leukemia|acute B cell lymphocytic leukemia|B-cell precursor type acute leukemia|precursor B-lymphoblastic leukemia|precursor B-lymphoblastic leukemia (B-precursor ALL)|B-precursor ALL|B-cell Acute Lymphoblastic Leukemia|B-ALL|B acute lymphoblastic leukemia|B-cell acute lymphoblastic leukemia|B-cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|precursor B-cell acute lymphoblastic leukemia/lymphoma|B-cell type acute leukemia|B cell acute lymphocytic leukemia NCIT:C8644|ICDO:9836/3|UMLS:C0006413|ICD10:C91.0|OMIM:615545|ICD10:C83.5|Orphanet:99860 owl:Class MONDO:0009186 biolink:NamedThing epilepsy, photogenic, with spastic diplegia and intellectual disability tmpte7i6ely_mondo_relaxed.owl epilepsy, photogenic, with spastic diplegia and mental retardation|epilepsy, photogenic, with spastic diplegia and intellectual disability OMIM:226800|UMLS:C1856931|MESH:C565587 owl:Class MONDO:0007591 biolink:NamedThing facial hypertrichosis tmpte7i6ely_mondo_relaxed.owl facial hypertrichosis|facial hypertrichosis (disease) facial hypertrichosis (disease) 2022-04-01 HP:0002219|MESH:C565029|OMIM:134000 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0002219 HP:0002219 owl:Class CHEBI:17478 biolink:NamedThing aldehyde A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group. tmpte7i6ely_mondo_relaxed.owl aldehydes|aldehido|an aldehyde|RCHO|aldehidos|RC(=O)H|Aldehyd|Aldehyde|aldehydum|aldehyde owl:Class NCBITaxon:11041 biolink:NamedThing Rubella virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11040 biolink:NamedThing Rubivirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008198 biolink:NamedThing parietal foramina with cleidocranial dysplasia Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. tmpte7i6ely_mondo_relaxed.owl PFMCCD|parietal foramina with cleidocranial dysostosis|cleidocranial dysplasia with parietal foramina|parietal foramina with clavicular hypoplasia|parietal foramina with cleidocranial dysplasia UMLS:C1868597|MESH:C566825|OMIM:168550|Orphanet:251290|ICD10:Q74.0 owl:Class MONDO:0012094 biolink:NamedThing prostate cancer, hereditary, 4 tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, on chromosome 7|prostate cancer, hereditary, type 4|HPC4|prostate cancer, hereditary, 4 UMLS:C1837593|MESH:C563882|OMIM:608658 owl:Class MONDO:0013939 biolink:NamedThing peroxisome biogenesis disorder 7B tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder type 7B|PBD7B|peroxisome biogenesis disorder 7B Orphanet:772|Orphanet:44|OMIM:614873|UMLS:C3553951 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0016670 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor owl:Class MONDO:0009613 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblA An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. tmpte7i6ely_mondo_relaxed.owl MMA Cbl A type|cobalamin locus A variant|methylmalonic acidemia, cblA type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria, cblA type|cobalamin B disease|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type|cblB - cobalamin locus b|cblA methylmalonic acidemia|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type|cobalamin locus B variant|cobalamin A disease|methylmalonic aciduria cblA type|cblB methylmalonic acidemia|methylmalonic acidemia cblA type|vitamin B12-responsive methylmalonic acidemia type cblA|cblA - cobalamin locus a|vitamin B12-responsive methylmalonic aciduria type cblA SCTID:73843004|OMIM:251100|UMLS:C0342721|DOID:0060742|UMLS:C0342722|SCTID:82245003|ICD10:E71.1|Orphanet:28|GARD:0005500|Orphanet:79310|NCIT:C142171|UMLS:C1855109 owl:Class MONDO:0007349 biolink:NamedThing familial cold autoinflammatory syndrome 1 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. tmpte7i6ely_mondo_relaxed.owl cold-induced autoinflammatory syndrome, familial|Cryopyrin-associated periodic syndrome 1|NLRP3 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome type 1|Fcas|FCAS1|familial cold autoinflammatory syndrome 1|familial cold autoinflammatory syndrome caused by mutation in NLRP3|cold hypersensitivity|cold urticaria, familial ICD10:L50.2|DOID:0090062|SCTID:238687000|Orphanet:47045|UMLS:C0343068|OMIM:120100 owl:Class MONDO:0018356 biolink:NamedThing secondary neonatal autoimmune disease tmpte7i6ely_mondo_relaxed.owl Transplacentally acquired neonatal autoimmune disease UMLS:CN226097|Orphanet:398091 owl:Class MONDO:0009156 biolink:NamedThing ectrodactyly-polydactyly syndrome A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl ectrodactyly polydactyly|ectrodactyly-polydactyly GARD:0002068|MESH:C565601|UMLS:C1857040|ICD10:Q74.8|OMIM:225290|Orphanet:1892 https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly owl:Class MONDO:0009709 biolink:NamedThing myopathy, centronuclear, 2 Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene. tmpte7i6ely_mondo_relaxed.owl myopathy, centronuclear, type 2|centronuclear myopathy caused by mutation in BIN1|myopathy, centronuclear, autosomal recessive|myopathy, centronuclear, 2|BIN1 centronuclear myopathy|CNM2|myotubular myopathy, autosomal recessive MESH:C562934|OMIM:255200|DOID:0111220|Orphanet:169186 owl:Class MONDO:0023084 biolink:NamedThing epiphyseal dysplasia dysmorphism camptodactyly tmpte7i6ely_mondo_relaxed.owl GARD:0002177 https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly owl:Class MONDO:0003624 biolink:NamedThing acinic cell breast carcinoma A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation. tmpte7i6ely_mondo_relaxed.owl acinic cell breast carcinoma|acinar cell breast carcinoma|breast carcinoma of acinar cell UMLS:C1515868|NCIT:C40367|DOID:5743 owl:Class GO:0002865 biolink:NamedThing negative regulation of acute inflammatory response to antigenic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpte7i6ely_mondo_relaxed.owl inhibition of acute inflammatory response to antigenic stimulus|downregulation of acute inflammatory response to antigenic stimulus|down regulation of acute inflammatory response to antigenic stimulus|down-regulation of acute inflammatory response to antigenic stimulus owl:Class MONDO:0044811 biolink:NamedThing idiopathic torsion dystonia Torsion dystonia for which no underlying cause has been identified. tmpte7i6ely_mondo_relaxed.owl primary torsion dystonia|Ziehen-oppenheim disease|dystonia deformans progressiva|Idiopathic torsion dystonia|dystonia musculorum deformans|Schwalbe disease|idiopathic torsion dystonia NCIT:C34564|ICD9:333.6|SCTID:22451001 owl:Class MONDO:0001129 biolink:NamedThing nasal cavity olfactory neuroblastoma An olfactory neuroblastoma arising in the nasal cavity. tmpte7i6ely_mondo_relaxed.owl nasal cavity olfactory neuroblastoma|olfactory neuroblastoma of the nasal cavity|olfactory neuroblastoma of nasal cavity UMLS:C1334923|NCIT:C7604|DOID:10812 owl:Class HP:0008071 biolink:NamedThing Maternal hypertension Increased blood pressure during a pregnancy. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:288250001|UMLS:C0565599 human_phenotype owl:Class HP:0100603 biolink:NamedThing Toxemia of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. tmpte7i6ely_mondo_relaxed.owl Hypertensive disorder of pregnancy|Toxaemia of pregnancy SNOMEDCT_US:398254007|MSH:D011225|UMLS:C0032914|SNOMEDCT_US:15394000 doelkens 2010-12-27T05:27:41Z human_phenotype owl:Class MONDO:0008763 biolink:NamedThing Alstrom syndrome A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. tmpte7i6ely_mondo_relaxed.owl Alström syndrome|Alstrom's syndrome|ALSS|ALMS|Alstrom syndrome MESH:D056769|UMLS:C0268425|SCTID:63702009|ICD10:Q87.8|NCIT:C84549|Orphanet:64|ICD9:759.89|GARD:0005787|OMIM:203800|MedDRA:10068783|DOID:0050473 https://github.com/monarch-initiative/mondo/issues/324 owl:Class UBERON:0015281 biolink:NamedThing pancreas right lobe tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019239 biolink:NamedThing deaminase activity Catalysis of the removal of an amino group from a substrate, producing a substituted or nonsubstituted ammonia (NH3/NH2R). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000926 biolink:NamedThing eye accommodation disease Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. tmpte7i6ely_mondo_relaxed.owl disorder of accommodation ICD10:H52.5|DOID:10034|SCTID:54552008|ICD9:367.5|UMLS:C0152198 owl:Class MONDO:0006642 biolink:NamedThing alcohol withdrawal delirium An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) tmpte7i6ely_mondo_relaxed.owl delirium Tremens, alcohol withdrawal induced|alcohol withdrawal induced delirium Tremens|delirium Tremens|autonomic hyperactivity, alcohol withdrawal associated|alcohol withdrawal associated autonomic hyperactivity|delirium, alcohol withdrawal|alcohol withdrawal-induced delirium Tremens|hallucinosis, alcohol withdrawal|alcohol withdrawal hallucinosis EFO:1000800|ICD9:291.0|MESH:D000430|MedDRA:10001610|SCTID:8635005 owl:Class MONDO:0054831 biolink:NamedThing Coffin-Siris syndrome 7 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene. tmpte7i6ely_mondo_relaxed.owl COFFIN-SIRIS syndrome 7|CSS7 OMIM:618027|UMLS:CN248780 owl:Class CL:1001434 biolink:NamedThing olfactory bulb interneuron A neuron residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons tmpte7i6ely_mondo_relaxed.owl cl owl:Class MONDO:0008857 biolink:NamedThing Beemer-Ertbruggen syndrome Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. tmpte7i6ely_mondo_relaxed.owl lethal hydrocephalus-cardiac malformation-dense bones syndrome|Beemer Ertbruggen syndrome|hydrocephalus, cardiac malformation, dense bones, etc|Beemer lethal malformation syndrome|hydrocephalus, Cardiac malformation, dense bones, etc.|peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome UMLS:C1859526|SCTID:717859007|MESH:C537668|GARD:0000846|Orphanet:1237|ICD10:Q87.8|OMIM:209970 https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome owl:Class MONDO:0003437 biolink:NamedThing occult small cell lung carcinoma A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpte7i6ely_mondo_relaxed.owl occult small cell carcinoma of lung|lung occult small cell carcinoma|occult small cell lung carcinoma|occult small cell carcinoma of the lung NCIT:C6683|DOID:5414|UMLS:C1335099 owl:Class MONDO:0018946 biolink:NamedThing rhombencephalosynapsis Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres. tmpte7i6ely_mondo_relaxed.owl Orphanet:59315|ICD10:Q04.3|SCTID:442300000|UMLS:C1866130|ICD9:742.4 owl:Class MONDO:0036990 biolink:NamedThing benign Leydig cell tumor A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion. tmpte7i6ely_mondo_relaxed.owl benign Leydig cell neoplasm|Leydig cell tumor, benign|benign interstitial cell tumor|adenoma, interstitial|benign interstitial cell neoplasm|benign Leydig cell tumor ICDO:8650/0|NCIT:C4212|UMLS:C0334409 owl:Class MONDO:0006266 biolink:NamedThing Leydig cell tumor A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. tmpte7i6ely_mondo_relaxed.owl interstitial cell tumor|Leydig cell tumor|Leydig cell tumor, undetermined|Leydig cell neoplasm|interstitial cell neoplasm DOID:2696|EFO:1000321|ICDO:8650/1|NCIT:C3188|MESH:D007984|UMLS:C0023601 Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor owl:Class MONDO:0010174 biolink:NamedThing Valinemia Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal. tmpte7i6ely_mondo_relaxed.owl valine transaminase deficiency|Valinemia|hypervalinemia GARD:0007845|MESH:C536524|OMIM:277100|UMLS:C0268573|SCTID:47719001 https://rarediseases.info.nih.gov/diseases/7845/valinemia owl:Class CL:1000330 biolink:NamedThing serous cell of epithelium of trachea A serous secreting cell that is part of the epithelium of trachea. tmpte7i6ely_mondo_relaxed.owl FMA:263078 cell owl:Class MONDO:0023577 biolink:NamedThing Krieble Bixler syndrome tmpte7i6ely_mondo_relaxed.owl autosomal dominant blepharophimosis with multiple congenital anomalies GARD:0003144|UMLS:C2931550|MESH:C537619 https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome owl:Class MONDO:0001008 biolink:NamedThing blepharophimosis The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl blepharophimosis|blepharophimosis (disease) blepharophimosis (disease) GARD:0005932|ICD10:H02.52|MESH:D016569|HP:0000581|ICD9:374.46|DOID:10348 owl:Class FOODON:03420164 biolink:NamedThing part of animal Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03420116 biolink:NamedThing part of organism Anatomical part of the plant or animal from which a food product or its major ingredient is derived. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001949 biolink:NamedThing acute thyroiditis Acute form of thyroiditis (disease). tmpte7i6ely_mondo_relaxed.owl thyroiditis (disease), acute|acute thyroiditis (disease) DOID:14353|ICD9:245.0|SCTID:190293001|ICD10:E06.0|UMLS:C0001360 owl:Class MONDO:0030484 biolink:NamedThing immunodeficiency 89 and autoimmunity tmpte7i6ely_mondo_relaxed.owl IMD89 OMIM:619632 owl:Class MONDO:0045060 biolink:NamedThing intraductal cribriform breast adenocarcinoma A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern. tmpte7i6ely_mondo_relaxed.owl non-infiltrating cribriform ductal breast carcinoma|ductal carcinoma in situ of breast with cribriform pattern|non-invasive cribriform ductal breast carcinoma|cribriform ductal breast carcinoma in situ|cribriform DCIS of breast|cribriform ductal carcinoma in situ of breast|ductal carcinoma in situ of the breast with cribriform pattern|cribriform DCIS of the breast|intraductal cribriform breast adenocarcinoma|cribriform ductal carcinoma in situ of the breast|DCIS of the breast with cribriform pattern|DCIS of breast with cribriform pattern NCIT:C5138|UMLS:C1334248|ICDO:8201/2 owl:Class MONDO:0007554 biolink:NamedThing epidermolysis bullosa simplex 1B, generalized intermediate Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. tmpte7i6ely_mondo_relaxed.owl generalized epidermolysis bullosa simplex, non-Dowling-Meara type|EBS-K|epidermolysis bullosa simplex, Kobner type|generalized EBS, non-Dowling-Meara type|epidermolysis bullosa simplex, generalized intermediate|epidermolysis bullosa simplex, Köbner type|generalized EBS|EBS, generalized intermediate|EBS, generalized|epidermolysis bullosa simplex, Koebner type|epidermolysis bullosa simplex, generalized|epidermolysis bullosa simplex, generalized non-Dowling-Meara SCTID:90496008|ICD10:Q81.0|Orphanet:79399|OMIM:131900|GARD:0002147|ICD9:757.39 owl:Class HGNC:6783 biolink:NamedThing MAG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011471 biolink:NamedThing inflammatory bowel disease 3 An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 3|IBD3|inflammatory bowel disease 3 UMLS:C1858303|MESH:C565764|DOID:0110891|OMIM:604519 owl:Class MONDO:0012761 biolink:NamedThing chromosome 3q29 microduplication syndrome 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly. tmpte7i6ely_mondo_relaxed.owl trisomy 3q29|chromosome 3q29 DUPLICATION syndrome|3q29 microduplication|3q29 microduplication syndrome|microduplication 3Q29 syndrome Orphanet:251038|DOID:0060459|SCTID:717973004|MESH:C567626|OMIM:611936|UMLS:C2749873|ICD10:Q92.3|GARD:0010360 https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome owl:Class MONDO:0018380 biolink:NamedThing idiopathic avascular necrosis tmpte7i6ely_mondo_relaxed.owl idiopathic AVN Orphanet:399307|ICD10:M87.0 owl:Class MONDO:0018379 biolink:NamedThing primary avascular necrosis tmpte7i6ely_mondo_relaxed.owl primary AVN ICD10:M87.8|Orphanet:399302 owl:Class PO:0025004 biolink:NamedThing plant axis An axial plant organ (PO:0009008). tmpte7i6ely_mondo_relaxed.owl 植物軸（軸柱） (Japanese, exact)|eje de la planta (Spanish, exact)|plant axes (exact, plural) Includes roots and shoots. rwalls 2010-07-01T03:44:41Z plant_anatomy owl:Class PO:0009008 biolink:NamedThing plant organ A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path. tmpte7i6ely_mondo_relaxed.owl organ (broad)|órgano vegetal (Spanish, exact)|植物 器官 (Japanese, exact)|compound plant organ (related)|simple plant organ (related) PO_GIT:55 Examples include stem (PO:0009047), leaf (PO:0025034), and root (PO:0009005). May include individual plant cells (PO:0009002) that are not part of a portion of plant tissue (e.g., idioblasts, PO:0000283). A plant organ may have one or more different plant organs as parts, such as a sporophyll (PO:0009026) that may have as part a sporangium (PO:0025094) or a carpel (PO:0009030) that may have as part a plant ovule (PO:0020003). plant_anatomy owl:Class MONDO:0100338 biolink:NamedThing urinary tract infection tmpte7i6ely_mondo_relaxed.owl urinary tract infection (disease) urinary tract infection (disease) owl:Class MONDO:0003850 biolink:NamedThing clivus chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage. tmpte7i6ely_mondo_relaxed.owl chondroid chordoma of clivus of occipital bone|chondroid chordoma of clivus|chondroid chordoma of the clivus|clivus of occipital bone chondroid chordoma UMLS:C1333072|NCIT:C5426|DOID:6313 owl:Class MONDO:0022568 biolink:NamedThing bidirectional tachycardia tmpte7i6ely_mondo_relaxed.owl bidirectional ventricular tachycardia GARD:0000878|MESH:C535438|UMLS:C2930902 https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia owl:Class MONDO:0032736 biolink:NamedThing metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression tmpte7i6ely_mondo_relaxed.owl METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION|MECREN OMIM:618416 owl:Class MONDO:0001622 biolink:NamedThing mechanical lagophthalmos tmpte7i6ely_mondo_relaxed.owl ICD10:H02.22|UMLS:C0155198|ICD9:374.22|DOID:13037|SCTID:21783006 owl:Class MONDO:0020756 biolink:NamedThing migraine, familial hemiplegic, 1 tmpte7i6ely_mondo_relaxed.owl FHM1|MHP1|familial hemiplegic migraine type 1|migraine, familial hemiplegic, 1|migraine, familial hemiplegic, type 1|migraine, sporadic hemiplegic|hemiplegic migraine, familial type 1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia OMIM:141500|GARD:0002638|DOID:0111181 owl:Class HGNC:8996 biolink:NamedThing PIP5K1C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0041086 biolink:NamedThing mixed anxiety and depressive disorder tmpte7i6ely_mondo_relaxed.owl anxiety depression|mixed anxiety and depressive disorder SCTID:231504006 owl:Class CHEBI:22492 biolink:NamedThing amino aldehyde Any aldehyde which contains an amino group. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016371 biolink:NamedThing combined hyperactive dysfunction syndrome of the cranial nerves tmpte7i6ely_mondo_relaxed.owl UMLS:CN201241|Orphanet:221078 owl:Class MONDO:0008698 biolink:NamedThing achalasia A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food. tmpte7i6ely_mondo_relaxed.owl hypertensive lower esophageal sphincter|cardiospasm|esophageal achalasia|achalasia (disease)|lack of reflex relaxation of lower oesophageal sphincter|achalasia of cardia|achalasia|achalasia of esophagus achalasia (disease) Orphanet:930|UMLS:C0014848|HP:0002571|NCIT:C84699|DOID:9164|ICD10:K22.0|OMIM:200400|ICD9:530.0|UMLS:C1860213|SCTID:235630008|UMLS:C1321756 https://github.com/monarch-initiative/mondo/issues/4055 owl:Class MONDO:0002487 biolink:NamedThing breast granular cell tumor A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm. tmpte7i6ely_mondo_relaxed.owl breast granular cell tumor|granular cell tumor of breast NCIT:C40400|DOID:3011|UMLS:C1511312 owl:Class MONDO:0007094 biolink:NamedThing amelogenesis imperfecta type 1A Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. tmpte7i6ely_mondo_relaxed.owl LAMB3 amelogenesis imperfecta|amelogenesis imperfecta, type IA|AI1A|amelogenesis imperfecta type IA|local hypoplastic amelogenesis imperfecta|amelogenesis imperfecta local hypoplastic|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta, type 1A|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta hypoplastic type IA ICD10:K00.5|Orphanet:88661|OMIM:104530|DOID:0110054|MESH:C538240|Orphanet:100031|GARD:0000645 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic owl:Class GO:0050954 biolink:NamedThing sensory perception of mechanical stimulus The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpte7i6ely_mondo_relaxed.owl chemi-mechanical coupling|mechanosensory perception|perception of mechanical stimulus owl:Class NCBITaxon:3750 biolink:NamedThing Malus domestica tmpte7i6ely_mondo_relaxed.owl Pyrus malus|Malus sylvestris var. domestica|Malus pumila auct.|cultivated apple|Malus pumila var. domestica|apple tree|Malus communis|apple|Malus x domestica GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017475 biolink:NamedThing macrodactyly of toes tmpte7i6ely_mondo_relaxed.owl Megalodactyly of the foot|macrodactyly of the foot|macrodactyly of foot|megalodactylism of the foot ICD10:Q74.2|GARD:0006951|HP:0100747|Orphanet:295047|MESH:C537719 owl:Class MONDO:0014568 biolink:NamedThing hereditary spastic paraplegia 73 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 73, autosomal dominant|SPG73|CPT1C autosomal dominant pure spastic paraplegia|hereditary spastic paraplegia type 73|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C|autosomal dominant spastic paraplegia 73|autosomal dominant spastic paraplegia type 73 UMLS:C4225387|OMIM:616282|Orphanet:444099|ICD10:G11.4|DOID:0110818 owl:Class MONDO:0020422 biolink:NamedThing aortopulmonary coronary arterial course Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise. tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99086 owl:Class MONDO:0006983 biolink:NamedThing subclavian steal syndrome An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. tmpte7i6ely_mondo_relaxed.owl subclavian artery stenosis|subclavian steal steno-occlusive disease|subclavian steal phenomenon UMLS:C0038531|NCIT:C35044|MESH:D013349|EFO:1001195|SCTID:15258001|ICD9:435.2|DOID:13002|MedDRA:10042335 owl:Class HGNC:1706 biolink:NamedThing CD8A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0080144 biolink:NamedThing amino acid homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007891 biolink:NamedThing familial generalized lentiginosis Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. tmpte7i6ely_mondo_relaxed.owl lentiginosis, inherited patterned|lentiginosis profusa|lentiginosis, generalized|familial multiple lentigines syndrome without systemic involvement|familial lentigines profusa|lentiginosis, diffuse ICD10:L81.4|MESH:C573023|UMLS:CN201466|Orphanet:231040|UMLS:C3492944|SCTID:765195000|OMIM:151001 owl:Class HGNC:26219 biolink:NamedThing FUZ tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7462 biolink:NamedThing MT-ND6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019469 biolink:NamedThing T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. tmpte7i6ely_mondo_relaxed.owl large cell granular lymphoid leukemia|T-cell large granular lymphocyte leukemia|proliferation of large granular lymphocytes|T-cell large gran. lymph. leuk.|large granular lymphocyte leukemia|large granular lymphocytic leukemia|T-gamma lymphoproliferative disorder|T-cell large granular lymphocytic leukemia|Tgamma large granular lymphocyte leukemia|TLGL|LGLL|LGL leukemia|T-LGL leukemia|T-cell LGL leukemia|leukemia, large granular LYMPHOCYTIC, malignant|large granular lymphocytosis|large cell granular lymphogenous leukemia|T-LGL|T gamma lymphoproliferative disorder DOID:0050751|NCIT:C4664|GARD:0009812|UMLS:C1522378|ICDO:9831/1|MedDRA:10065862|ICDO:9831/3|Orphanet:86872|ICDO:9768/1|ONCOTREE:TLGL|SCTID:277569004|UMLS:C1955861|ICD9:204.80 owl:Class MONDO:0017326 biolink:NamedThing infective dermatitis associated with HTLV-1 A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. tmpte7i6ely_mondo_relaxed.owl infective dermatitis associated with human T-lymphotropic virus type 1|IDH|IDH Gene family|infective dermatitis associated with human T-lymphotropic virus type I|isocitrate dehydrogenase Gene family NCIT:C129260|UMLS:CN202966|Orphanet:289347|ICD10:L30.3 owl:Class HGNC:6740 biolink:NamedThing LYZ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010636 biolink:NamedThing Kallmann syndrome with spastic paraplegia tmpte7i6ely_mondo_relaxed.owl spastic paraplegia-Kallmann syndrome|Kallmann syndrome with spastic paraplegia MESH:C536873|UMLS:C1839911|OMIM:308750 owl:Class MONDO:0003860 biolink:NamedThing cerebellopontine angle meningioma A meningioma that affects the cerebellopontine angle. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of cerebellopontine angle|meningioma of the cerebellar Pontine angle|meningioma of cerebellopontine angle|cerebellar Pontine angle meningioma|meningioma of the cerebellopontine angle|meningioma of cerebellar Pontine angle|C-P angle meningioma|meningioma of the C-P angle|meningioma of C-P angle|cerebellopontine angle meningioma (disease) UMLS:C1263882|DOID:6337|NCIT:C5300|SCTID:126948004 owl:Class UBERON:0001335 biolink:NamedThing prostatic urethra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700069 biolink:NamedThing myopathy caused by variation in POMGNT2 Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene. tmpte7i6ely_mondo_relaxed.owl myopathy caused by mutation in POMGNT2|POMGNT2 myopathy|POMGNT2-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0045023 biolink:NamedThing acquired adrenogenital syndrome An instance of adrenogenital syndrome that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired adrenogenital syndrome UMLS:C0237971|SCTID:190512008 owl:Class MONDO:0009201 biolink:NamedThing facial abnormalities, kyphoscoliosis, and intellectual disability tmpte7i6ely_mondo_relaxed.owl facial abnormalities, kyphoscoliosis, and mental retardation|facial abnormalities, kyphoscoliosis, and intellectual disability OMIM:227250|UMLS:C1856893|MESH:C565580 owl:Class MONDO:0044329 biolink:NamedThing osteogenesis imperfecta, type 18 Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}). tmpte7i6ely_mondo_relaxed.owl OI18|osteogenesis imperfecta, type XVIII OMIM:617952|UMLS:CN244563 owl:Class MONDO:0025445 biolink:NamedThing Wieacker-Wolff syndrome (spectrum) tmpte7i6ely_mondo_relaxed.owl OMIMPS:314580 Grouping for the X-linked form seen mostly in males and female-restricted owl:Class HGNC:1515 biolink:NamedThing CAST tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011544 biolink:NamedThing paragangliomas 3 Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. tmpte7i6ely_mondo_relaxed.owl paragangliomas 3|PGL3|glomus tumors, familial, 3|SDHC paraganglioma|paragangliomas type 3|paraganglioma caused by mutation in SDHC|SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3) Orphanet:29072|OMIM:605373|GARD:0010545|UMLS:C1854336 https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3 owl:Class MONDO:0043123 biolink:NamedThing massa casaer ceulemans syndrome tmpte7i6ely_mondo_relaxed.owl arthrogryposis multiplex congenita associated with lissencephaly MESH:C536031|UMLS:C2931090|GARD:0003407 owl:Class ENVO:01000665 biolink:NamedThing waste role A role that is realized in some process wherein the bearer is discarded or not utilized further. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019629 biolink:NamedThing sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. tmpte7i6ely_mondo_relaxed.owl isolated congenital sclerocornea|sclerocornea|sclerocornea (disease) sclerocornea (disease) DOID:0060252|Orphanet:91490|ICD10:Q13.3|HP:0000647|MESH:C565209|OMIM:181700 owl:Class NCBITaxon:6448 biolink:NamedThing Gastropoda tmpte7i6ely_mondo_relaxed.owl gastropods GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6447 biolink:NamedThing Mollusca tmpte7i6ely_mondo_relaxed.owl molluscs|mollusks GC_ID:1 ncbi_taxonomy owl:Class HP:0030681 biolink:NamedThing Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). tmpte7i6ely_mondo_relaxed.owl UMLS:C4073289 human_phenotype owl:Class UBERON:0000031 biolink:NamedThing lamina propria of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030024 biolink:NamedThing neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES|neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities|NEDASB OMIM:618859 owl:Class MONDO:0011034 biolink:NamedThing odontomicronychial dysplasia Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. tmpte7i6ely_mondo_relaxed.owl odontomicronychial dysplasia|ectodermal dysplasia, nail/Tooth type|odonto-micronychial dysplasia UMLS:C1832473|Orphanet:1811|OMIM:601319|MESH:C537741|GARD:0004053 https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia owl:Class MONDO:0017238 biolink:NamedThing hemoglobinopathy Toms River tmpte7i6ely_mondo_relaxed.owl transient neonatal cyanosis and anemia due to Toms River Hemoglobin ICD10:D58.2|OMIM:613977|Orphanet:280615 owl:Class GO:0043624 biolink:NamedThing cellular protein complex disassembly The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018495 biolink:NamedThing X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. tmpte7i6ely_mondo_relaxed.owl Orphanet:423479|UMLS:CN237501|ICD10:E79.8 owl:Class CL:0002174 biolink:NamedThing follicular cell of ovary A cell within the follicle of an ovary. tmpte7i6ely_mondo_relaxed.owl FMA:70589|EMAPA:31247 tmeehan 2010-08-25T03:01:27Z cell owl:Class MONDO:0006140 biolink:NamedThing cervical mucinous adenocarcinoma, minimal deviation variant A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands. tmpte7i6ely_mondo_relaxed.owl cervical mucinous adenocarcinoma, minimal deviation type|cervical adenoma malignum|cervical mucinous adenocarcinoma, minimal deviation variant UMLS:C1516423|EFO:1000169|NCIT:C40206|DOID:6627 owl:Class MONDO:0032696 biolink:NamedThing oocyte maturation defect 6 tmpte7i6ely_mondo_relaxed.owl OOCYTE MATURATION DEFECT 6|OOMD6 OMIM:618353 owl:Class GO:1990748 biolink:NamedThing cellular detoxification Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019682 biolink:NamedThing congenital sialidosis type 2 tmpte7i6ely_mondo_relaxed.owl Orphanet:93400|ICD10:E77.1 owl:Class MONDO:0013199 biolink:NamedThing tuberous sclerosis 2 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). tmpte7i6ely_mondo_relaxed.owl tuberous sclerosis, type 2|TSC2|tuberous sclerosis type 2|tuberous sclerosis 2|TSC2 Angiomyolipomas, renal, modifier of Orphanet:805|DOID:0080325|OMIM:191100|GARD:0005381|NCIT:C75331|OMIM:613254 owl:Class MONDO:0003403 biolink:NamedThing testicular non-seminomatous germ cell cancer A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. tmpte7i6ely_mondo_relaxed.owl malignant non-seminomatous germ cell neoplasm of testis|malignant non-seminomatous germ cell neoplasm of the testis|malignant non-seminomatous germ cell tumor of testis|malignant testicular non-seminomatous germ cell tumor|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell cancer of the testis|malignant testicular non-seminomatous germ cell neoplasm|testicular non-seminomatous germ cell cancer|malignant non-seminomatous germ cell cancer of testis|malignant non-seminomatous germ cell tumor of the testis|testicular non-seminomatous germ cell tumor, malignant|testicular germ cell tumor non-seminomatous, malignant DOID:5345|UMLS:C1334625|NCIT:C5027 Editor note: TODO owldef owl:Class UBERON:0018151 biolink:NamedThing skin of upper lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020196 biolink:NamedThing anomaly of the secretory and excretory apparatus of the lacrimal system tmpte7i6ely_mondo_relaxed.owl Orphanet:98608 owl:Class MONDO:0012795 biolink:NamedThing hypophosphatemic rickets and hyperparathyroidism tmpte7i6ely_mondo_relaxed.owl hypophosphatemic rickets and hyperparathyroidism UMLS:C2677524|MESH:C567423|OMIM:612089 owl:Class HGNC:30224 biolink:NamedThing SLC52A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002237 biolink:NamedThing carbuncle An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration. tmpte7i6ely_mondo_relaxed.owl carbuncle and furuncle of hand|carbuncle and furuncle of face|carbuncle and furuncle of leg except foot|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of trunk|carbuncle and furuncle of neck|carbuncle and furuncle of buttock|carbuncle and furuncle of gluteal region|carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of foot ICD9:680.8|MESH:D002270|EFO:1000674|DOID:2176|SCTID:416893007|UMLS:C0007078|ICD9:680.9 owl:Class MONDO:0018028 biolink:NamedThing tetrasomy 5p Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). tmpte7i6ely_mondo_relaxed.owl tetrasomy type 5p|Isochromosome 5p ICD10:Q99.8|Orphanet:3309|SCTID:766755003 owl:Class UBERON:0011289 biolink:NamedThing pharyngobasilar fascia tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014543 biolink:NamedThing lumbar division of spinal cord central canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008484 biolink:NamedThing stapes ankylosis with broad thumbs and toes Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. tmpte7i6ely_mondo_relaxed.owl Teunissen-Cremers syndrome|stapes ankylosis with BROAD thumb and toes|stapes ankylosis syndrome without symphalangism|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly UMLS:C1866656|Orphanet:140917|OMIM:184460|ICD10:Q87.8|SCTID:719305006 owl:Class MONDO:0004861 biolink:NamedThing ophthalmia nodosa tmpte7i6ely_mondo_relaxed.owl SCTID:12371008|UMLS:C0154775|ICD9:360.14|ICD10:H16.24|DOID:9722 owl:Class MONDO:0014776 biolink:NamedThing spinocerebellar ataxia type 42 tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 42|spinocerebellar ataxia 42|SCA42 NCIT:C171269|Orphanet:458803|UMLS:C4225205|DOID:0111742|OMIM:616795|EFO:0009059|ICD10:G11.8 owl:Class MONDO:0007940 biolink:NamedThing malignant hyperthermia, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl malignant hyperpyrexia susceptibility type 3|malignant hyperthermia, susceptibility to, 3|MHS3|Mhs3|malignant hyperthermia, susceptibility to, type 3|malignant hyperthermia susceptibility type 3 GARD:0003365|OMIM:154276|Orphanet:423|MESH:C535696 https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 owl:Class CL:0000439 biolink:NamedThing prolactin secreting cell A peptide hormone cell that secretes prolactin. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0019373 biolink:NamedThing desmoplastic small round cell tumor Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. tmpte7i6ely_mondo_relaxed.owl Desmoplastic small round cell tumor|Desmoplastic small round-cell neoplasm|Desmoplastic small round-cell tumor|Desmoplas. small round cell tumor|desmoplastic small-round-cell tumor|desmoplastic small round cell tumor|DSRCT|Polyphenotypic small round cell tumor MedDRA:10064581|NCIT:C8300|UMLS:C0281508|ICD10:C48.2|ICDO:8806/3|Orphanet:83469|MedDRA:10064587|HGNC:12796|ONCOTREE:DSRCT|GARD:0006265|MESH:D058405|EFO:1000895 https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor owl:Class UBERON:0017751 biolink:NamedThing proximal mesopodial cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C16956 biolink:NamedThing Pathologic Process tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C17828 biolink:NamedThing Biological Process tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008692 biolink:NamedThing abetalipoproteinemia Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. tmpte7i6ely_mondo_relaxed.owl microsomal triglyceride transfer protein deficiency disease|abetalipoproteinemia neuropathy|apolipoprotein B deficiency|Betalipoprotein deficiency disease|homozygous familial hypobetalipoproteinemia|familial hypobetalipoproteinemia|Bassen Kornzweig syndrome|microsomal triglyceride transfer Protein deficiency|ABL|abetalipoproteinemia|acanthocytosis|congenital betalipoprotein deficiency syndrome|MTP deficiency|Bassen-Kornzweig syndrome|Bassen-Kornzweig disease UMLS:C0000744|SCTID:190787008|GARD:0000005|ICD10:E78.6|DOID:1386|OMIM:200100|NCIT:C84525|MESH:D000012|Orphanet:14 owl:Class UBERON:0015148 biolink:NamedThing tail hair tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033604 biolink:NamedThing negative regulation of catecholamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. tmpte7i6ely_mondo_relaxed.owl downregulation of catecholamine secretion|down regulation of catecholamine secretion|down-regulation of catecholamine secretion|inhibition of catecholamine secretion owl:Class MONDO:0011584 biolink:NamedThing Fanconi anemia complementation group D1 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia complementation group D1|Fad1|FANCD1|Fanconi anemia, complementation group D1|inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations|FAD1 DOID:0111089|OMIM:605724|NCIT:C125705|Orphanet:319462|UMLS:C1838457|SCTID:766707003|MESH:C563980 owl:Class MONDO:0022559 biolink:NamedThing benign angiitis of the central nervous system A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event. tmpte7i6ely_mondo_relaxed.owl BACNS GARD:0008704 https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system owl:Class MONDO:0003346 biolink:NamedThing central nervous system vasculitis Vasculitis affecting the blood vessels of the brain and/or spinal cord. tmpte7i6ely_mondo_relaxed.owl central nervous system vasculitis|vasculitis of central nervous system UMLS:C0751878|MESH:D020293|NCIT:C84622|DOID:525 owl:Class CHEBI:32600 biolink:NamedThing tetracene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. tmpte7i6ely_mondo_relaxed.owl 2,3-benzanthracene|tetracene|benz[b]anthracene|naphthacene owl:Class MONDO:0043267 biolink:NamedThing rheumatoid vasculitis Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. tmpte7i6ely_mondo_relaxed.owl rheumatoid Vasculitides|vasculitis, rheumatoid|rheumatoid vasculitis|Vasculitides, rheumatoid MESH:D056653|GARD:0007577|UMLS:C0240903|SCTID:400054000 owl:Class MONDO:0008541 biolink:NamedThing spermatic cord torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. tmpte7i6ely_mondo_relaxed.owl testicular torsion|torsion of testicle|torsion of testis|torsion of testicular cord ICD10:N44.0|MESH:D013086|ICD9:608.2|DOID:11996|SCTID:81996005|ICD10:N44.02|UMLS:C0037856|ICD10:N44.00|ICD9:608.20|OMIM:187400|NCIT:C26885 owl:Class GO:0051053 biolink:NamedThing negative regulation of DNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpte7i6ely_mondo_relaxed.owl downregulation of DNA metabolic process|down regulation of DNA metabolic process|negative regulation of DNA metabolism|inhibition of DNA metabolic process|down-regulation of DNA metabolic process owl:Class MONDO:0030430 biolink:NamedThing spermatogenic failure 56 tmpte7i6ely_mondo_relaxed.owl SPGF56 OMIM:619515 owl:Class MONDO:0006220 biolink:NamedThing gallbladder squamous cell carcinoma A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl gallbladder squamous cell cancer|epidermoid carcinoma of the gallbladder|epidermoid gallbladder carcinoma|squamous cell carcinoma of the gallbladder|epidermoid carcinoma of gallbladder|squamous cell carcinoma of gallbladder|gall bladder squamous cell carcinoma|squamous cell gallbladder carcinoma|gallbladder squamous cell carcinoma DOID:5535|NCIT:C9170|EFO:1000267|UMLS:C0279658 owl:Class MONDO:0026762 biolink:NamedThing Wieacker-Wolff syndrome, female-restricted tmpte7i6ely_mondo_relaxed.owl WRWFFR|WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED OMIM:301041 owl:Class MONDO:0005850 biolink:NamedThing milker's nodule Virus diseases caused by the poxviridae. tmpte7i6ely_mondo_relaxed.owl milker nodule|Paravaccinia|Pseudocowpox|milkers' node UMLS:C0026143|ICD9:051.1|ICD10:B08.04|MESH:D011213|EFO:0007370|ICD9:051.9|SCTID:27240009|DOID:8729 owl:Class MONDO:0017868 biolink:NamedThing diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.8|Orphanet:319192 owl:Class MONDO:0010867 biolink:NamedThing PARC syndrome PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. tmpte7i6ely_mondo_relaxed.owl poikiloderma-alopecia-retrognathism-cleft palate syndrome|poikiloderma, alopecia, retrognathism, and cleft palate|PARC syndrome Orphanet:2825|GARD:0004223|MESH:C537174|UMLS:C1838256|OMIM:600331|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome owl:Class MONDO:0009958 biolink:NamedThing adult Refsum disease A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. tmpte7i6ely_mondo_relaxed.owl heredopathia atactica polyneuritiformis|HMSN type IV|Refsum's disease|hypertrophic neuropathy of Refsum|Refsum disease with increased pipecolic acidemia|disorder of cornification 11 (phytanic acid type)|classic Refsum disease|RDPA|adult Refsum disease|HMSN 4|Refsum disease|HSMN IV|hereditary motor and sensory neuropathy 4|phytanic-CoA hydroxylase deficiency|adult Refsum disease due to PHYH|hereditary motor and sensory neuropathy type 4|Refsum disease, classic|Refsum disease, adult, 1|DOC 11 (phytanic acid type)|phytanic acid oxidase deficiency|hereditary sensory and motor neuropathy type 4 GARD:0005691|MESH:D012035|OMIM:266510|OMIM:266500|ICD10:G60.1|ICD9:272.8|ICD9CM:356.3|GARD:0004371|MESH:C535517|OMIM:600964|SCTID:25362006|UMLS:C1833022|DOID:10582|NCIT:C85043|Orphanet:773|MedDRA:10038275 Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 https://rarediseases.info.nih.gov/diseases/5691/refsum-disease owl:Class MONDO:0012541 biolink:NamedThing deafness with labyrinthine aplasia, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. tmpte7i6ely_mondo_relaxed.owl deafness with labyrinthine aplasia microtia and microdontia (LAMM)|LAMM syndrome|deafness congenital with inner ear agenesis microtia and microdontia|deafness, congenital, with inner EAR agenesis, microtia, and microdontia|deafness with labyrinthine aplasia, microtia, and microdontia|congenital deafness with inner ear agenesis microtia and microdontia|microdontia-type I microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with Lamm ICD9:759.89|UMLS:C1853144|Orphanet:90024|ICD10:Q16.5|SCTID:702360007|OMIM:610706|GARD:0010707|MESH:C565195 owl:Class HGNC:3431 biolink:NamedThing ERBB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020485 biolink:NamedThing King-Denborough syndrome King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. tmpte7i6ely_mondo_relaxed.owl King Denborough syndrome|Noonan like contracture myopathy hyperpyrexia|anesthetic-induced malignant hyperpyrexia in children|Kousseff Nichols syndrome|Koussef-Nichols syndrome GARD:0008433|GARD:0008561|ICD10:G71.2|Orphanet:99741|MESH:C536883|MESH:C537504|SCTID:764957003|OMIM:145600 https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome owl:Class CL:0002253 biolink:NamedThing epithelial cell of large intestine An epithelial cell of the large intestine. tmpte7i6ely_mondo_relaxed.owl epithelial cell of colon BTO:0004297|FMA:256157 tmeehan 2010-09-08T09:28:22Z CL:1000292 cell owl:Class HGNC:2531 biolink:NamedThing CTSF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009771 biolink:NamedThing oculotrichodysplasia Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl oculotrichodysplasia|Cecato de Lima-Pinheiro syndrome|OTD Orphanet:2718|SCTID:722062004|OMIM:257960|UMLS:C1850332|MESH:C564934 owl:Class MONDO:0009334 biolink:NamedThing hemolytic anemia with thermal sensitivity of red cells tmpte7i6ely_mondo_relaxed.owl hemolytic anemia with thermal sensitivity of red cells OMIM:235370|Orphanet:288|MESH:C565522|UMLS:C1856158 owl:Class HP:0001010 biolink:NamedThing Hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition. tmpte7i6ely_mondo_relaxed.owl Patchy lightened skin|Hypopigmentation|Hypopigmented skin|Skin hypopigmentation SNOMEDCT_US:89031001|UMLS:C0162835|MSH:D017496|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000|SNOMEDCT_US:18655006 HP:0007622|HP:0007604|HP:0005589 human_phenotype owl:Class MONDO:0016815 biolink:NamedThing Leigh syndrome with leukodystrophy tmpte7i6ely_mondo_relaxed.owl infantile subacute necrotizing encephalopathy with leukodystrophy|Leigh disease with leukodystrophy OMIM:256000|UMLS:CN202083|ICD10:G31.8|OMIM:616277|Orphanet:255241 owl:Class MONDO:0001983 biolink:NamedThing peripheral degeneration of cornea tmpte7i6ely_mondo_relaxed.owl peripheral degenerations of cornea ICD9:371.48|DOID:14507|SCTID:89182000|ICD10:H18.46|UMLS:C0155123 owl:Class ECTO:9000021 biolink:NamedThing exposure to alkali metal salt An exposure to alkali metal salt. tmpte7i6ely_mondo_relaxed.owl exposure to alkali metal salt owl:Class MONDO:0011754 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 2 tmpte7i6ely_mondo_relaxed.owl FHHA2|hyperreninemic hypoaldosteronism, familial, 2|hyperreninemic hypoaldosteronism, familial, type 2|aldosterone synthase deficiency unrelated to CYP11B2|Fhha2|aldosterone synthase deficiency unrelated to the aldosterone synthase gene UMLS:C1846990|Orphanet:99764|ICD10:E27.4|OMIM:606984|MESH:C564638|Orphanet:427 owl:Class MONDO:0018541 biolink:NamedThing familial hypoaldosteronism Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). tmpte7i6ely_mondo_relaxed.owl UMLS:C4275180|Orphanet:427|OMIM:203400|SCTID:715343000|UMLS:CN205074|ICD10:E27.4|OMIM:610600|OMIM:606984 owl:Class NCBITaxon:1809 biolink:NamedThing Mycobacterium ulcerans tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:12089250 ncbi_taxonomy owl:Class MONDO:0022535 biolink:NamedThing autonomic facial cephalgia tmpte7i6ely_mondo_relaxed.owl carotidynia|Carotidynia|Autonomic facial cephalgia|Carotodynia SCTID:230482003|ICD9:337.09|GARD:0010369|UMLS:C0238902 owl:Class UBERON:0006284 biolink:NamedThing early prosencephalic vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007689 biolink:NamedThing guanylate kinase 3 tmpte7i6ely_mondo_relaxed.owl GUK3|guanylate kinase 3|guanylate kinase type 3|guanylate KINASE 3 OMIM:139290 owl:Class MONDO:0023224 biolink:NamedThing inherited reflex epilepsy An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary reflex epilepsy GARD:0002455 owl:Class MONDO:0015781 biolink:NamedThing facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Seaver-Cassidy syndrome|facial dysmorphism shawl scrotum joint laxity|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies|Seaver Cassidy syndrome MESH:C537529|UMLS:C2931522|GARD:0004778|Orphanet:1778|ICD10:Q87.8|SCTID:716337006 owl:Class MONDO:0008148 biolink:NamedThing osteogenesis imperfecta type 4 Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). tmpte7i6ely_mondo_relaxed.owl OI4|osteogenesis imperfecta with normal sclerae|osteogenesis imperfecta with normal sclera|osteogenesis imperfecta, type IV|osteogenesis imperfecta, type 4|osteogenesis imperfecta type IV|common variable OI with normal sclerae|OI, type 4|OI type IV|OI type 4 MESH:C536045|OMIM:613849|OMIM:615220|OMIM:613982|GARD:0008696|NCIT:C98576|UMLS:C0268363|OMIM:259440|OMIM:166220|OMIM:615066|ICD10:Q78.0|SCTID:205497004|OMIM:610968|OMIM:616507|Orphanet:216820|OMIM:610682|DOID:0110340 owl:Class MONDO:0007639 biolink:NamedThing fundus albipunctatus Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. tmpte7i6ely_mondo_relaxed.owl pigmentary retinal dystrophy|fundus albipunctatus|retinitis punctata albescens SCTID:68222009|ICD9:362.76|ICD10:H35.5|ICD9:362.74|MESH:C562733|OMIM:136880|Orphanet:52427|Orphanet:227796|DOID:11105|ICD10:H35.52 owl:Class MONDO:0010427 biolink:NamedThing syndromic X-linked intellectual disability Raymond type A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1. tmpte7i6ely_mondo_relaxed.owl syndromic X-linked intellectual disability Raymond type|mental retardation, X-linked, syndromic, Raymond type|MRXSR|mental retardation, X-linked syndromic, Raymond type|intellectual disability, X-linked, syndromic, Raymond type|intellectual disability, X-linked syndromic, Raymond type OMIM:300799|UMLS:C3275406|DOID:0060824|ICD10:Q87.8 owl:Class NCBITaxon:42862 biolink:NamedThing Rickettsia felis tmpte7i6ely_mondo_relaxed.owl Rickettsia azadi GC_ID:11|PMID:11321078|PMID:8904435|PMID:12508865 NCBITaxon:147578|NCBITaxon:135271 ncbi_taxonomy owl:Class MONDO:0000758 biolink:NamedThing bacillary angiomatosis A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. tmpte7i6ely_mondo_relaxed.owl Bartonella angiomatosis|angiomatosis, bacillary epithelioid|epithelioid angiomatosis, bacillary|bacillary epithelioid angiomatosis|bacillary Angiomatoses|epithelioid angiomatosis|bacillary angiomatosis|angiomatoses, bacillary|angiomatoses, epithelioid|epithelioid Angiomatoses|bacillary epithelioid Angiomatoses|Bartonella caused angiomatosis|angiomatosis, epithelioid|angiomatoses, bacillary epithelioid|epithelioid Angiomatoses, bacillary DOID:0060345|NCIT:C3477|ICD9:083.8|MESH:D016917|SCTID:58213005|UMLS:C0085434 owl:Class NCBITaxon:5794 biolink:NamedThing Apicomplexa tmpte7i6ely_mondo_relaxed.owl apicomplexans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024461 biolink:NamedThing angiomatosis A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. tmpte7i6ely_mondo_relaxed.owl angiomatosis|multiple hemangiomas|diffuse angiomatosis|angiomatoses|diffuse hemangioma NCIT:C27503|SCTID:205562004|UMLS:C0002992|MESH:D000798 Editor note: check this owl:Class NCBITaxon:32519 biolink:NamedThing Ostariophysi tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186634 biolink:NamedThing Otomorpha tmpte7i6ely_mondo_relaxed.owl Ostarioclupeomorpha|Otocephala GC_ID:1 ncbi_taxonomy owl:Class GO:0016937 biolink:NamedThing short-branched-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010827 biolink:NamedThing retinitis pigmentosa 14 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 14|retinitis pigmentosa 14|retinitis pigmentosa caused by mutation in TULP1|TULP1 retinitis pigmentosa|RP 14|RP14 GARD:0010385|OMIM:600132|UMLS:C1838603|DOID:0110381|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14 owl:Class MONDO:0015007 biolink:NamedThing spastic paraplegia, intellectual disability, nystagmus, and obesity; tmpte7i6ely_mondo_relaxed.owl SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296|Orphanet:521390|UMLS:C4284592 owl:Class MONDO:0016416 biolink:NamedThing diphallia tmpte7i6ely_mondo_relaxed.owl Diphallus ICD10:Q55.6|ICD9:752.69|Orphanet:227|GARD:0001872|SCTID:253851000 https://rarediseases.info.nih.gov/diseases/1872/diphallia owl:Class MONDO:0012823 biolink:NamedThing colorectal cancer, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl CRCS7|colorectal cancer, susceptibility to, 7|colorectal cancer, susceptibility to, on chromosome 11 OMIM:612232 owl:Class HGNC:7376 biolink:NamedThing MSR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011562 biolink:NamedThing autosomal dominant Parkinson disease 4 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Parkinson disease type 4|PARK4|autosomal dominant Parkinson disease 4|Parkinson disease 4, autosomal dominant|autosomal dominant Lewy body Parkinson disease 4|autosomal dominant Parkinson's disease 4|Parkinson disease 4, autosomal dominant Lewy body ICD10:G20|Orphanet:411602|OMIM:605543|UMLS:C1854182|DOID:0060895|MESH:C565324 owl:Class MONDO:0001641 biolink:NamedThing severe pre-eclampsia Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. tmpte7i6ely_mondo_relaxed.owl severe preeclampsia|Preeclampsia with severe features|postpartum severe pre-eclampsia|antepartum severe pre-eclampsia|severe pre-eclampsia, with delivery ICD9:642.50|DOID:13129|NCIT:C112843 owl:Class MONDO:0010220 biolink:NamedThing Young syndrome Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. tmpte7i6ely_mondo_relaxed.owl azoospermia obstructive and chronic sinopulmonary infections|Barry-Perkins-Young syndrome|azoospermia-sinopulmonary infections syndrome|young syndrome|sinusitis-infertility syndrome|azoospermia, obstructive, and chronic sinopulmonary infections|Barry Perkins Young syndrome MedDRA:10063689|UMLS:C0340037|ICD9:759.89|OMIM:279000|Orphanet:3471|GARD:0000341|MESH:C536718|SCTID:233666007|ICD10:N46 https://rarediseases.info.nih.gov/diseases/341/young-syndrome owl:Class MONDO:0043199 biolink:NamedThing short limb dwarf lethal colavita kozlowski type tmpte7i6ely_mondo_relaxed.owl Colavita Kozlowski syndrome UMLS:C2931544|MESH:C537597|GARD:0004823 owl:Class MONDO:0032930 biolink:NamedThing intellectual developmental disorder with poor growth and with or without seizures or ataxia tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA|IDPOGSA OMIM:618808 owl:Class MONDO:0008344 biolink:NamedThing pulmonary edema of mountaineers, susceptibility to tmpte7i6ely_mondo_relaxed.owl pulmonary edema of mountaineers|pulmonary edema of mountaineers, susceptibility to|HAPH|high altitude pulmonary hypertension ICD9:416.8|MESH:C535833|GARD:0008348|OMIM:178400|ICD9:993.2|SCTID:233954004 owl:Class ENVO:01000314 biolink:NamedThing high osmolarity environment A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009612 biolink:NamedThing response to mechanical stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. tmpte7i6ely_mondo_relaxed.owl chemi-mechanical coupling|mechanical stimulus response owl:Class CHEBI:52395 biolink:NamedThing oxyketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. tmpte7i6ely_mondo_relaxed.owl oxyketones owl:Class HP:0008496 biolink:NamedThing Multiple rows of eyelashes tmpte7i6ely_mondo_relaxed.owl Two rows of eyelashes|Double row of eyelashes|Extra rows of eyelashes|Multiple rows of eyelashes SNOMEDCT_US:95339000|UMLS:C3550336|UMLS:C0423848 human_phenotype owl:Class HP:0000499 biolink:NamedThing Abnormal eyelash morphology An abnormality of the eyelashes. tmpte7i6ely_mondo_relaxed.owl Abnormal eyelashes|Eyelash abnormality|Abnormality of the eyelashes UMLS:C2675111 HP:0004530 human_phenotype owl:Class MONDO:0003065 biolink:NamedThing nasal cavity inverting papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl inverting papilloma of nasal cavity|nasal cavity Schneiderian papilloma, inverted type|inverting papilloma of the nasal cavity|nasal cavity inverted papilloma NCIT:C8194|DOID:4633|UMLS:C0280336 owl:Class MONDO:0005050 biolink:NamedThing invasive ductal and lobular carcinoma An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. tmpte7i6ely_mondo_relaxed.owl invasive ductal and lobular carcinoma|infiltrating ductal and lobular carcinoma|invasive duct and lobular carcinoma NCIT:C7688|UMLS:C1334277|EFO:0000552|ICDO:8522/3 owl:Class HGNC:18292 biolink:NamedThing CFC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002599 biolink:NamedThing teratocarcinoma A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component. tmpte7i6ely_mondo_relaxed.owl teratocarcinoma (morphologic abnormality)|teratocarcinoma|mixed embryonal carcinoma and teratoma MESH:D018243|UMLS:C0206664|ICDO:9081/3|NCIT:C3756|DOID:3305 owl:Class GO:0060452 biolink:NamedThing positive regulation of cardiac muscle contraction Any process that increases the frequency, rate or extent of cardiac muscle contraction. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35295 biolink:NamedThing homopolycyclic compound tmpte7i6ely_mondo_relaxed.owl homopolycyclic compounds owl:Class HGNC:27424 biolink:NamedThing RBM20 tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0500000 biolink:NamedThing exposure to environmental disposition A exposure event involving the interaction of an exposure receptor to environmental disposition. tmpte7i6ely_mondo_relaxed.owl environmental disposition exposure owl:Class GO:0061983 biolink:NamedThing meiosis II cell cycle process A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes. tmpte7i6ely_mondo_relaxed.owl second meiotic division owl:Class MONDO:0011172 biolink:NamedThing otofacioosseous-gonadal syndrome tmpte7i6ely_mondo_relaxed.owl otofacioosseous-gonadal syndrome MESH:C566597|OMIM:601976|UMLS:C1865988 owl:Class OBO:OBA_VT0010454 biolink:NamedThing organism trait The quality when measured in multicellular organism. tmpte7i6ely_mondo_relaxed.owl multicellular organism quality owl:Class MONDO:0000302 biolink:NamedThing basidiobolomycosis A disease caused by infection with Basidiobolus. tmpte7i6ely_mondo_relaxed.owl basidiobolomycosis|Basidiobolus caused disease or disorder|infection caused by Basidiobolus|Basidiobolus infectious disease|infection by Basidiobolus|Basidiobolus disease or disorder MEDGEN:575966|UMLS:C0343965|SCTID:4921002|DOID:0050278 owl:Class GO:0007584 biolink:NamedThing response to nutrient Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpte7i6ely_mondo_relaxed.owl nutritional response pathway|response to nutrients owl:Class MONDO:0017409 biolink:NamedThing fetal cytomegalovirus syndrome An infection with the Cytomegalovirus that is present from birth. tmpte7i6ely_mondo_relaxed.owl antenatal CMV infection|congenital Cytomegaloviral infection|mother-to-child transmission of cytomegalovirus syndrome|antenatal cytomegalovirus infection|CMV antenatal infection|congenital cytomegalovirus Orphanet:294|GARD:0001480|NCIT:C122427|ICD10:P35.1|SCTID:276701009|GARD:0001409|UMLS:C0349499 https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection|https://rarediseases.info.nih.gov/diseases/1480/congenital-cytomegalovirus owl:Class HGNC:4440 biolink:NamedThing GP1BB tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:123367 biolink:NamedThing Ctenosquamata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123366 biolink:NamedThing Eurypterygia tmpte7i6ely_mondo_relaxed.owl Eurypterygii GC_ID:1 ncbi_taxonomy owl:Class GO:0072201 biolink:NamedThing negative regulation of mesenchymal cell proliferation Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003864 biolink:NamedThing middle phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044320 biolink:NamedThing retinitis pigmentosa 79 tmpte7i6ely_mondo_relaxed.owl RP79|retinitis pigmentosa 79 Orphanet:791|UMLS:C4479526|OMIM:617460 owl:Class MONDO:0001730 biolink:NamedThing urethral syndrome tmpte7i6ely_mondo_relaxed.owl SCTID:31273004|DOID:13498|ICD10:N34.3|UMLS:C0156279|ICD9:597.81 owl:Class MONDO:0014492 biolink:NamedThing woolly hair-palmoplantar keratoderma syndrome Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. tmpte7i6ely_mondo_relaxed.owl PPKWH|woolly hair-palmoplantar hyperkeratosis syndrome|keratoderma with woolly hair type IV|KWWH type IV|palmoplantar keratoderma and woolly hair UMLS:C4015202|Orphanet:420686|ICD10:Q82.8|SCTID:764108000|OMIM:616099 owl:Class MONDO:0009056 biolink:NamedThing cutis verticis gyrata and intellectual disability tmpte7i6ely_mondo_relaxed.owl cutis verticis gyrata-intellectual disability syndrome|cutis verticis gyrata and mental retardation|cutis verticis gyrata and intellectual disability|CVG/MR OMIM:219300|Orphanet:1557|UMLS:C1857444 owl:Class MONDO:0007433 biolink:NamedThing dementia/parkinsonism with non-Alzheimer amyloid plaques tmpte7i6ely_mondo_relaxed.owl dementia/parkinsonism with non-Alzheimer amyloid plaques MESH:C565115|OMIM:125320|UMLS:C1852223 owl:Class HGNC:26887 biolink:NamedThing TAPT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0025408 biolink:NamedThing Abnormal spleen morphology Any anomaly of the structure of the spleen. tmpte7i6ely_mondo_relaxed.owl Splenic lesion 2017-04-23 10:55:52+00:00 HPO:probinson human_phenotype owl:Class GO:0042593 biolink:NamedThing glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000256 biolink:NamedThing systemic mycosis A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system. tmpte7i6ely_mondo_relaxed.owl systemic fungal infection DOID:0050136|ICD9:117.9|UMLS:C0553576|SCTID:399314004 owl:Class MONDO:0019896 biolink:NamedThing Kleefstra syndrome due to 9q34 microdeletion tmpte7i6ely_mondo_relaxed.owl Kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|Kleefstra syndrome due to 9q subtelomeric deletion|9qSTDS|Kleefstra syndrome due to monosomy 9q34 UMLS:C0795833|UMLS:CN206831|Orphanet:96147|ICD10:Q87.8 owl:Class MONDO:0013885 biolink:NamedThing Malan overgrowth syndrome Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. tmpte7i6ely_mondo_relaxed.owl Sotos syndrome type 2|Malan syndrome|Sotos syndrome 2|SOTOS2 UMLS:C3553660|ICD10:Q87.3|Orphanet:420179|OMIM:614753|SCTID:763795006 owl:Class MONDO:0013601 biolink:NamedThing gluthathione peroxidase deficiency tmpte7i6ely_mondo_relaxed.owl glutathione peroxidase deficiency|GPXD|gluthathione peroxidase deficiency SCTID:234590006|UMLS:C0398747|OMIM:614164 owl:Class MONDO:0009008 biolink:NamedThing heart defect - tongue hamartoma - polysyndactyly syndrome tmpte7i6ely_mondo_relaxed.owl Ostravik-Lindemann-Solberg syndrome|Orstavik Lindemann Solberg syndrome|heart defect - tongue hamartoma - polysyndactyly syndrome|CHDTHP|heart defect, tongue hamartoma and polysyndactyly|congenital heart defects, hamartomas of tongue, and polysyndactyly ICD10:Q87.8|DOID:0111591|GARD:0004166|MESH:C535849|Orphanet:1338|OMIM:217085|GARD:0002612|UMLS:C2931046 owl:Class HP:0025015 biolink:NamedThing Abnormal vascular morphology tmpte7i6ely_mondo_relaxed.owl 2016-08-12 11:24:56+00:00 HPO:probinson human_phenotype owl:Class NCBITaxon:28556 biolink:NamedThing Pleosporaceae tmpte7i6ely_mondo_relaxed.owl Pyrenophoraceae GC_ID:1 NCBITaxon:117568 ncbi_taxonomy owl:Class NCBITaxon:715340 biolink:NamedThing Pleosporineae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100290 biolink:NamedThing colon serrated polyposis The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon. tmpte7i6ely_mondo_relaxed.owl NCIT:C96470|UMLS:C3272797 http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:5752 biolink:NamedThing Heterolobosea tmpte7i6ely_mondo_relaxed.owl Lobosa GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016703 biolink:NamedThing anaplastic oligoastrocytoma An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl anaplastic oligoastrocytoma|WHO grade III mixed glioma|AOAST|aMOA|anaplastic mixed glioma Orphanet:251663|EFO:0002500|ONCOTREE:AOAST|GARD:0010637|ICD10:C71.9|NCIT:C6959|UMLS:C0431108 https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma owl:Class HGNC:132 biolink:NamedThing ACTB tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002979 biolink:NamedThing Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg. tmpte7i6ely_mondo_relaxed.owl Bow-leggedness|Bow legs|Bowed lower limbs|Bowed legs MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 HP:0006428 human_phenotype owl:Class HP:0006487 biolink:NamedThing Bowing of the long bones A bending or abnormal curvature of a long bone. tmpte7i6ely_mondo_relaxed.owl Bowing of long bones|Diaphyseal bowing of long bones|Bowing of the long bones|Diaphyseal bowing|Camptomelia|Bowed long bones UMLS:C1855340 Curvatures of a long bone such as femur, tibia, or fibula. peter 2008-03-28T05:56:00Z HP:0006452|HP:0002976|HP:0006404|HP:0005087|HP:0006451|HP:0005908 human_phenotype owl:Class GO:0055007 biolink:NamedThing cardiac muscle cell differentiation The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. tmpte7i6ely_mondo_relaxed.owl heart muscle cell differentiation|cardiomyocyte differentiation owl:Class HP:0010974 biolink:NamedThing Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. tmpte7i6ely_mondo_relaxed.owl Abnormality of myeloid leukocytes UMLS:C4023618 A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. peter 2011-02-06T09:24:46Z human_phenotype owl:Class MONDO:0007480 biolink:NamedThing dwarfism with stiff joints and ocular abnormalities tmpte7i6ely_mondo_relaxed.owl dwarfism with stiff joints and ocular abnormalities|Moore-Federman syndrome ICD9:759.89|SCTID:72913007|MESH:C535724|Orphanet:2569|OMIM:127200 owl:Class MONDO:0003165 biolink:NamedThing cerebellar astrocytoma Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. tmpte7i6ely_mondo_relaxed.owl astrocytoma of cerebellum|astrocytoma, cerebellar|cerebellar astrocytoma|cerebellum astrocytoma (excluding glioblastoma)|astrocytoma of the cerebellum|astrocytoma (excluding glioblastoma) of cerebellum|cerebellum astrocytoma DOID:4848|UMLS:C0740480|NCIT:C9475 owl:Class FOODON:03420194 biolink:NamedThing egg or egg component Poultry, game bird or turtle eggs. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022890 biolink:NamedThing craniosynostosis Fontaine type tmpte7i6ely_mondo_relaxed.owl GARD:0001595 https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type owl:Class GO:0006112 biolink:NamedThing energy reserve metabolic process The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. tmpte7i6ely_mondo_relaxed.owl energy reserve metabolism owl:Class GO:0015980 biolink:NamedThing energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. tmpte7i6ely_mondo_relaxed.owl chemoorganotrophy owl:Class MONDO:0030475 biolink:NamedThing heterotaxy, visceral, 11, autosomal, with male infertility tmpte7i6ely_mondo_relaxed.owl HTX11 OMIM:619608 owl:Class MONDO:0007437 biolink:NamedThing dentin dysplasia type II Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. tmpte7i6ely_mondo_relaxed.owl dentin dysplasia, coronal|dentin dyspalsia, Shields type 2|coronal dentin dysplasia|Dtdp2|anomalous dysplasia of dentin|dentin dysplasia, type II|DD-II|pulp stones|dentin dysplasia, type 2|dentin dysplasia, Shields type 2|DTDP2|pulpal dysplasia OMIM:125420|GARD:0001806|ICD9:520.5|SCTID:109494000|ICD10:K00.5|Orphanet:99791 owl:Class MONDO:0015613 biolink:NamedThing dentin dysplasia Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II. tmpte7i6ely_mondo_relaxed.owl DD|dentinal dysplasia SCTID:109492001|Orphanet:1653|MESH:D003805|ICD9:520.5|DOID:701|OMIM:125400|OMIM:125420|ICD10:K00.5 owl:Class MONDO:0017079 biolink:NamedThing meningoencephalocele A congenital abnormality in which the meninges protrude through a defect in the cranium. tmpte7i6ely_mondo_relaxed.owl encephalomeningocele|meningoencephalocele|brain meninx cephalocele (disease)|cephalocele (disease) of brain meninx|cranial meningocele ICD10:Q01.0|NCIT:C124517|SCTID:52330001|Orphanet:268820|ICD10:Q01.9|ICD10:Q01.2|UMLS:C0009694|GARD:0003473|ICD10:Q01.1|ICD10:Q01.8 owl:Class HGNC:17142 biolink:NamedThing OPTN tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000362 biolink:NamedThing transitional myocyte of interventricular septum A transitional myocyte that is part of the interventricular septum. tmpte7i6ely_mondo_relaxed.owl FMA:263154 cell owl:Class MONDO:0054869 biolink:NamedThing nondystrophic myotonia tmpte7i6ely_mondo_relaxed.owl NDM MESH:C536245|GARD:0009852 owl:Class MONDO:0009055 biolink:NamedThing cutis marmorata telangiectatica congenita Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. tmpte7i6ely_mondo_relaxed.owl cutis marmorata telangiectatica congenita (disease)|cutis marmorata telangiectatica congenita|CMTC|Van Lohuizen syndrome|hereditary cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita (disease) SCTID:254778000|MESH:C536226|OMIM:219250|HP:0025107|ICD10:Q82.8|Orphanet:1556|GARD:0006228|ICD9:757.8 owl:Class MONDO:0008798 biolink:NamedThing nonsyndromic congenital nail disorder 4 Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene. tmpte7i6ely_mondo_relaxed.owl anonychia/hyponychia congenita|HYPONYCHIA congenita|nail disorder, nonsyndromic congenital, type 4|isolated congenital anonychia caused by mutation in RSPO4|nail disorder, nonsyndromic congenital, 4|nonsyndromic congenital nail disorder 4|anonychia totalis|NDNC4|anonychia congenita totalis|RSPO4 isolated congenital anonychia|nonsyndromic congenital nail disorder type 4|anonychia congenita OMIM:206800|Orphanet:79143|MESH:C536377|DOID:0080082|ICD10:Q84.3|Orphanet:94150|DOID:0050643 owl:Class MONDO:0019372 biolink:NamedThing solitary bone cyst A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported. tmpte7i6ely_mondo_relaxed.owl bone cyst|cyst of bone|simple bone cyst|solitary cyst|cyst of the bone|unicameral bone cyst ICD9:733.21|ICD10:M85.4|Orphanet:83468|MESH:D001845|SCTID:203467005|NCIT:C2904 Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT owl:Class PATO:0001777 biolink:NamedThing decreased flexibility A flexibility which is relatively low. tmpte7i6ely_mondo_relaxed.owl low flexibility owl:Class GO:0001678 biolink:NamedThing cellular glucose homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. tmpte7i6ely_mondo_relaxed.owl cell glucose homeostasis owl:Class MONDO:0019940 biolink:NamedThing hypertrichosis-acromegaloid facial appearance syndrome Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type. tmpte7i6ely_mondo_relaxed.owl hypertrichosis-acromegaloid facial features syndrome|acromegaloid facial appearance syndrome and hypertrichosis|haff|acromegaloid hypertrichosis syndrome|hypertrichosis-coarse face syndrome Orphanet:966|SCTID:721837000|GARD:0000502|UMLS:CN226272|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome owl:Class MONDO:0004707 biolink:NamedThing anal canal carcinoma in situ A carcinoma in situ involving a anal canal. tmpte7i6ely_mondo_relaxed.owl stage 0 anal canal cancer|stage 0 anal canal cancer aJCC v6 and v7|stage 0 anal carcinoma aJCC v6 and v7|anal canal in situ carcinoma|stage 0 anal canal cancer aJCC v7|stage 0 anal canal cancer aJCC v6|anal intraepithelial neoplasia grade III|stage 0 anal canal carcinoma|carcinoma in situ of anal canal|stage 0 anal carcinoma in situ|stage 0 anal canal carcinoma aJCC v6 and v7|carcinoma in situ of anus|anal carcinoma stage 0|anal carcinoma in situ ICD9:230.5|UMLS:C2242854|NCIT:C7794|DOID:9087|SCTID:92531006|UMLS:C0154064|ICD9:230.6 owl:Class GO:0048812 biolink:NamedThing neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. tmpte7i6ely_mondo_relaxed.owl neurite growth|neurite formation|neurite biosynthesis|neurite morphogenesis owl:Class GO:0120039 biolink:NamedThing plasma membrane bounded cell projection morphogenesis The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018225 biolink:NamedThing ALK-positive large B-cell lymphoma Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. tmpte7i6ely_mondo_relaxed.owl ALK+ LBCL|diffuse large B-cell lymphoma with expression of full-length ALK|ALK-positive large B-cell lymphoma|ALK-DLBCL|ALK+ large B-cell lymphoma|diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase ICD10:C83.3|Orphanet:364043|UMLS:C1333294|NCIT:C7225|SCTID:715950008|ICDO:9737/3 owl:Class GO:0045818 biolink:NamedThing negative regulation of glycogen catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpte7i6ely_mondo_relaxed.owl down-regulation of glycogen catabolic process|negative regulation of glycogen catabolism|negative regulation of glycogen degradation|negative regulation of glycogen breakdown|down regulation of glycogen catabolic process|inhibition of glycogen catabolic process|negative regulation of glycogenolysis|downregulation of glycogen catabolic process owl:Class MONDO:0019752 biolink:NamedThing pediatric Castleman disease Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms. tmpte7i6ely_mondo_relaxed.owl ICD10:D36.0|Orphanet:93682|UMLS:CN206684 owl:Class MONDO:0054573 biolink:NamedThing Lopes-Maciel-Rodan syndrome tmpte7i6ely_mondo_relaxed.owl Lopes-Maciel-Rodan syndrome|LOMARS OMIM:617435|UMLS:C4479491 owl:Class NCIT:C77140 biolink:NamedThing Clinical Test Result tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20509 biolink:NamedThing ZC3H14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014822 biolink:NamedThing 15q14 microdeletion syndrome 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Del(15)(q14)|chromosome 15q14 deletion syndrome|monosomy 15q14 UMLS:C4305230|Orphanet:261190|OMIM:616898|UMLS:C4225666|ICD10:Q93.5|SCTID:719575008 owl:Class MONDO:0011343 biolink:NamedThing follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts tmpte7i6ely_mondo_relaxed.owl follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts OMIM:603587|UMLS:C1863692|MESH:C566360 owl:Class GO:0008527 biolink:NamedThing taste receptor activity Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste. tmpte7i6ely_mondo_relaxed.owl gustatory receptor owl:Class MONDO:0003846 biolink:NamedThing viral esophagitis Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning. tmpte7i6ely_mondo_relaxed.owl viral esophagitis|Viruses esophagitis (disease)|Viruses caused esophagitis (disease) SCTID:235603003|DOID:6297|NCIT:C27108|UMLS:C0341110 owl:Class MONDO:0004393 biolink:NamedThing mixed astrocytoma-ependymoma A tumor of mixed cell type with astrocytic components as well as ependymoma components. tmpte7i6ely_mondo_relaxed.owl mixed astrocytoma-ependymoma UMLS:C0280791|DOID:7907|NCIT:C8271 owl:Class MONDO:0020595 biolink:NamedThing disorder of retroperitoneum A disease or disorder that involves the retroperitoneal space. tmpte7i6ely_mondo_relaxed.owl retroperitoneal space disease or disorder|disease of retroperitoneal space|retroperitoneal disorder|disorder of retroperitoneal space|disease or disorder of retroperitoneal space|retroperitoneal space disease|retroperitoneal disease NCIT:C27667|SCTID:734045002 owl:Class HGNC:6024 biolink:NamedThing IL7R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022610 biolink:NamedThing bronchiectasis oligospermia tmpte7i6ely_mondo_relaxed.owl GARD:0001023 https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia owl:Class MONDO:0004827 biolink:NamedThing esophagus squamous cell papilloma A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare. tmpte7i6ely_mondo_relaxed.owl squamous cell papilloma of esophagus|squamous cell papilloma of the esophagus|esophageal squamous papilloma|esophagus squamous papilloma|esophagus squamous cell papilloma DOID:959|UMLS:C1333467|NCIT:C5344 owl:Class MONDO:0009974 biolink:NamedThing familial hemophagocytic lymphohistiocytosis type 1 Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. tmpte7i6ely_mondo_relaxed.owl familial hemophagocytic lymphohistiocytosis|FHL1|reticulosis, familial histiocytic|familial HLH|Hplh1|HPLH1|Erythrophagocytic lymphohistiocytosis, familial|familial hemophagocytic lymphohistiocytosis 1|hemophagocytic lymphohistiocytosis, familial, 1|Hlh1|hemophagocytic reticulosis, familial|hemophagocytic lymphohistiocytosis, familial|familial hemophagocytic lymphohistiocytosis type 1|HLH1 OMIM:613101|Orphanet:540|OMIM:603553|MedDRA:10070904|NCIT:C61276|OMIM:267700|OMIM:608898|UMLS:CN034020|ICD10:D76.1|UMLS:C0272199|OMIM:603552|DOID:0110921|UMLS:CN205265 Editor note: type 1 split out owl:Class MONDO:0000927 biolink:NamedThing asymptomatic neurosyphilis tmpte7i6ely_mondo_relaxed.owl SCTID:37754005|UMLS:C0153167|ICD10:A52.2|ICD9:094.3|DOID:10035 owl:Class MONDO:0009364 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. tmpte7i6ely_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|muscle-eye-brain-POMT1 related|cod-MD syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|hydrocephalus, agyria, and retinal dysplasia|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|MDDGA1|hard syndrome Orphanet:588|UMLS:C4284790|UMLS:CN033898|NCIT:C128118|DOID:0111237|Orphanet:899|OMIM:236670 owl:Class UBERON:0005206 biolink:NamedThing choroid plexus stroma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017840 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. tmpte7i6ely_mondo_relaxed.owl classic 21-OHD CAH, simple virilizing form ICD10:E25.0|Orphanet:315311 owl:Class UBERON:0005116 biolink:NamedThing metanephric descending thin limb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005096 biolink:NamedThing descending thin limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021777 biolink:NamedThing acute rheumatic heart disease Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci). tmpte7i6ely_mondo_relaxed.owl acute rheumatic fever with heart involvement|active rheumatic fever with heart involvement|Active rheumatic fever with heart involvement|acute Rheumatic Heart Disease|acute rheumatic heart disease|acute rheumatic carditis ICD9:391.8|ICD9:391.9|NCIT:C34985|SCTID:312591002|UMLS:C0035440 owl:Class MONDO:0007457 biolink:NamedThing diastema, dental medial tmpte7i6ely_mondo_relaxed.owl diastema, dental medial OMIM:125900|MESH:C565098 owl:Class MONDO:0014968 biolink:NamedThing encephalopathy, progressive, with amyotrophy and optic atrophy tmpte7i6ely_mondo_relaxed.owl encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO|PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy OMIM:617207|UMLS:C4310667 owl:Class MONDO:0100481 biolink:NamedThing active tuberculosis Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease. tmpte7i6ely_mondo_relaxed.owl active TB http://orcid.org/0000-0001-5208-3432 owl:Class GO:0002921 biolink:NamedThing negative regulation of humoral immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. tmpte7i6ely_mondo_relaxed.owl down-regulation of humoral immune response|inhibition of humoral immune response|downregulation of humoral immune response|down regulation of humoral immune response owl:Class GO:0000806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10288 biolink:NamedThing RP9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002411 biolink:NamedThing narcissistic personality disorder A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others. tmpte7i6ely_mondo_relaxed.owl DOID:2745|NCIT:C92635|ICD9:301.81|ICD10:F60.81|SCTID:80711002 owl:Class MONDO:0030033 biolink:NamedThing seizures, early-onset, with neurodegeneration and brain calcifications tmpte7i6ely_mondo_relaxed.owl seizures, early-onset, with neurodegeneration and brain calcifications|SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS|SENEBAC OMIM:618875 owl:Class HGNC:6357 biolink:NamedThing KLK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004231 biolink:NamedThing spindle cell variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. tmpte7i6ely_mondo_relaxed.owl metaplastic adenocarcinoma with spindle cell differentiation|squamous cell breast carcinoma, spindle cell variant ONCOTREE:MASCC|DOID:7460|UMLS:C1519487|NCIT:C40358 owl:Class MONDO:0009505 biolink:NamedThing lactic aciduria due to D-lactic acid tmpte7i6ely_mondo_relaxed.owl lactic aciduria due to d-lactic acid OMIM:245450|MESH:C565446|UMLS:C1855552 owl:Class HGNC:4401 biolink:NamedThing GNB5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007319 biolink:NamedThing chondrocalcinosis 2 A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). tmpte7i6ely_mondo_relaxed.owl calcium gout|familial calcium pyrophosphate deposition|Pseudogout, familial|CPPDD|familial calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate dihydrate deposition disease|chondrocalcinosis, familial articular|calcium pyrophosphate arthropathy, familial|calcium pyrophosphate arthropathy|calcium gout, familial|hereditary articular chondrocalcinosis|CCAL2|chondrocalcinosis type 2|hereditary calcium pyrophosphate deposition|chondrocalcinosis 2|familial articular chondrocalcinosis|familial CC|calcium pyrophosphate dihydrate crystal deposition disease|hereditary CC|familial CPPD|chondrocalcinosis familial articular OMIM:118600|Orphanet:1416|MESH:C563162|GARD:0001292|OMIM:600668|UMLS:CN199517|ICD10:M11.1 owl:Class NCBITaxon:2499403 biolink:NamedThing Tornidovirineae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015310 biolink:NamedThing syndromic optic nerve hypoplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:137905|UMLS:CN226655 owl:Class UBERON:0003576 biolink:NamedThing hip connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021736 biolink:NamedThing proctosigmoiditis Inflammation of the sigmoid colon and rectum. tmpte7i6ely_mondo_relaxed.owl proctosigmoiditis|rectosigmoiditis|Proctosigmoiditis|Rectosigmoiditis SCTID:41364008|UMLS:C0033252|ICD9:569.89|NCIT:C34950 owl:Class MONDO:0001161 biolink:NamedThing schizoid personality disorder A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness. tmpte7i6ely_mondo_relaxed.owl ICD9:301.2|MESH:D012557|DOID:10936|NCIT:C92631|ICD9:301.20|SCTID:52954000|ICD10:F60.1 owl:Class HP:0002983 biolink:NamedThing Micromelia The presence of abnormally small extremities. tmpte7i6ely_mondo_relaxed.owl Smaller or shorter than typical limbs UMLS:C0025995|SNOMEDCT_US:74370006|MEDDRA:10027546 HP:0003030|HP:0005753 human_phenotype owl:Class MONDO:0016425 biolink:NamedThing Hughes-Stovin syndrome Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. tmpte7i6ely_mondo_relaxed.owl SCTID:721226005|UMLS:CN201382|ICD10:I28.8|Orphanet:228116 owl:Class MONDO:0016807 biolink:NamedThing pure mitochondrial myopathy Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. tmpte7i6ely_mondo_relaxed.owl SCTID:732245008|ICD10:G71.3|Orphanet:254854|UMLS:C4517289 owl:Class UBERON:0014390 biolink:NamedThing muscle layer of ileum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100067 biolink:NamedThing childhood spindle cell rhabdomyosarcoma A spindle cell rhabdomyosarcoma occurring in children. tmpte7i6ely_mondo_relaxed.owl NCIT:C123397 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008992 biolink:NamedThing Juberg-Hayward syndrome Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Juberg-Hayward syndrome|JHS|cleft LIP/palate with abnormal thumbs and microcephaly|cleft lip/palate-abnormal thumbs-microcephaly syndrome|Orocraniodigital syndrome MESH:C537690|Orphanet:2319|OMIM:216100|SCTID:721874001|ICD10:Q87.0|GARD:0003060|UMLS:C0796099 https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome owl:Class MONDO:0042963 biolink:NamedThing wandering spleen A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly. tmpte7i6ely_mondo_relaxed.owl spleen, wandering|drifting spleen|displaced spleen|drifting spleens|floating spleen|spleens, wandering|spleens, floating|splenic Ptoses|spleen, displaced|displaced spleens|Splenoptoses|splenoptosis|ptosis, splenic|spleen, floating|wandering spleens|wandering spleen|spleens, drifting|splenic ptosis|Ptoses, splenic|spleens, displaced|spleen, drifting|floating spleens UMLS:C0272414|MEDGEN:75782|SCTID:191384005|MESH:D050805|GARD:0000328|NCIT:C85224 owl:Class MONDO:0013232 biolink:NamedThing brachydactylous dwarfism, Mseleni type Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD. tmpte7i6ely_mondo_relaxed.owl Mseleni joint disease|brachydactylous dwarfs of Mseleni|Mseleni JOINT disease|brachydactylous dwarfism Mseleni type OMIM:613342|MESH:C537086|SCTID:715470008|ICD10:Q77.7|Orphanet:2619|GARD:0000960|UMLS:C2931420 owl:Class MONDO:0008827 biolink:NamedThing progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda - progressive arthropathy|progressive pseudorheumatoid arthropathy of childhood|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia|SEDT-PA|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|PPAC|PPD|arthropathy, progressive pseudorheumatoid, of childhood|progressive pseudorheumatoid chondrodysplasia Orphanet:1159|ICD10:Q77.7|GARD:0009184|SCTID:254065005|DOID:0090004|OMIM:208230|ICD9:756.9|MESH:C535387 owl:Class MONDO:0011829 biolink:NamedThing coenzyme Q10 deficiency, primary, 1 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. tmpte7i6ely_mondo_relaxed.owl coenzyme Q deficiency 1|COQ10D1|Coq10 deficiency, primary, 1|coenzyme Q10 deficiency, primary, type 1|CoQ deficiency 1|ubiquinone deficiency 1|coenzyme Q10 deficiency, primary, 1|coenzyme Q10 deficiency caused by mutation in COQ2|COQ2 coenzyme Q10 deficiency Orphanet:255249|DOID:0070238|UMLS:C3551954|OMIM:607426|UMLS:C1843920 owl:Class MONDO:0004201 biolink:NamedThing pituitary hypoplasia Incomplete development of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl pituitary hypoplasia|pituitary gland hypoplasia NCIT:C27343|DOID:7378|UMLS:C0948740 owl:Class MONDO:0020436 biolink:NamedThing atrial septal defect, sinus venosus type tmpte7i6ely_mondo_relaxed.owl sinus venosus atrial septal defects|atrial septal defect sinus venosus|sinus venosus ASD|ASD, sinus venosus type ICD10:Q21.1|Orphanet:99105|MESH:C548009|GARD:0010696|SCTID:95268002 owl:Class MONDO:0014639 biolink:NamedThing familial temporal lobe epilepsy 7 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22. tmpte7i6ely_mondo_relaxed.owl familial temporal lobe epilepsy type 7|epilepsy, familial temporal lobe, 7|ETL7|epilepsy, familial temporal lobe, type 7 DOID:0060751|UMLS:C4225327|Orphanet:101046|OMIM:616436 owl:Class CL:0002425 biolink:NamedThing early T lineage precursor A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. tmpte7i6ely_mondo_relaxed.owl ETP|preT.ETP.Th ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. tmeehan 2010-10-21T01:16:24Z cell owl:Class MONDO:0000893 biolink:NamedThing mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells. tmpte7i6ely_mondo_relaxed.owl mixed mucinous and non-mucinous bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchoalveolar lung carcinoma|indeterminate bronchioloalveolar carcinoma NCIT:C7270|ICDO:8254/3|DOID:0080184|UMLS:C1266036 owl:Class MONDO:0004991 biolink:NamedThing minimally invasive lung adenocarcinoma A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous. tmpte7i6ely_mondo_relaxed.owl carcinoma, bronchioloalveolar, malignant|bronchioalveolar adenocarcinoma of the lung|bronchioloalveolar adenocarcinoma of lung|bronchioloalveolar lung adenocarcinoma|bronchioloalveolar adenocarcinoma of the lung|bronchiolo-alveolar adenocarcinoma|bronchiolo-alveolar carcinoma of lung|minimally invasive lung adenocarcinoma|bronchioloalveolar carcinoma|bronchioalveolar adenocarcinoma of lung|bac|bronchioalveolar lung carcinoma|bronchiolo-alveolar carcinoma of the lung|bronchiolo-alveolar lung carcinoma ICDO:8250/3|ICD9:162.9|DOID:4926|SCTID:373627005|NCIT:C2923|ICDO:8251/3|EFO:0000308|MESH:D002282 owl:Class MONDO:0011982 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, 3|autoimmune thyroid disease, susceptibility to, type 3|AITD3 OMIM:608175 Editor note: TODO check causative gene; check ORDO synonyms owl:Class MONDO:0014123 biolink:NamedThing primary ciliary dyskinesia 21 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia type 21|ciliary dyskinesia, primary, 21, without situs inversus|primary ciliary dyskinesia caused by mutation in DRC1|ciliary dyskinesia, primary, type 21|primary ciliary dyskinesia 21 without situs inversus|DRC1 primary ciliary dyskinesia|CILD21|ciliary dyskinesia, primary, 21 ICD10:Q34.8|DOID:0110596|OMIM:615294|UMLS:C3809087 owl:Class MONDO:0010102 biolink:NamedThing taurodontia-absent teeth-sparse hair syndrome This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. tmpte7i6ely_mondo_relaxed.owl taurodontia, absent teeth, and sparse hair|taurodontia, absent teeth, sparse hair syndrome|teeth, congenital absence of, with taurodontia and sparse hair UMLS:C1848909|OMIM:272980|MESH:C536945|GARD:0005118|Orphanet:2731 https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome owl:Class MONDO:0008766 biolink:NamedThing amaurosis-hypertrichosis syndrome Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. tmpte7i6ely_mondo_relaxed.owl amaurosis congenita cone-rod type with congenital hypertrichosis|amaurosis congenita, cone-rod type, with congenital hypertrichosis ICD10:H35.5|GARD:0000637|Orphanet:1021|OMIM:204110|MESH:C536604|SCTID:720983002 https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis owl:Class GO:1904362 biolink:NamedThing regulation of calcitonin secretion Any process that modulates the frequency, rate or extent of calcitonin secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008094 biolink:NamedThing familial multiple nevi flammei A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. tmpte7i6ely_mondo_relaxed.owl Salmon patch Nevus|port wine Nevus|port wine stain of skin|port-wine stain familial multiple|port wine stain|port wine stain of the skin|port wine birthmark|port wine type hemangioma|Nevus flammeus|nevi flammei, familial multiple|capillary malformations|CMC|familial multiple port-wine stains|capillary malformations, congenital|port-wine stain|port-wine stain of skin Orphanet:624|MedDRA:10067193|NCIT:C3840|SCTID:416377005|GARD:0003986|DOID:0111529|UMLS:CN205384|UMLS:C0235752|OMIM:163000|ICD10:Q82.5 owl:Class GO:0060606 biolink:NamedThing tube closure Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:439490 biolink:NamedThing unclassified ssRNA viruses tmpte7i6ely_mondo_relaxed.owl unassigned ssRNA viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016939 biolink:NamedThing partial duplication of the short arm of chromosome 2 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl trisomy 2p|chromosome 2p duplication|partial duplication of chromosome 2p|2p trisomy|Duplication 2p|partial trisomy 2p|partial trisomy of chromosome 2p|partial duplication of the short arm of chromosome type 2|2p duplication GARD:0005337|UMLS:C0795803|MESH:C538318|Orphanet:262698 owl:Class MONDO:0024892 biolink:NamedThing soft tissue amyloid neoplasm A soft tissue neoplasm composed of acellular amyloid material. tmpte7i6ely_mondo_relaxed.owl soft tissue amyloid neoplasm|soft tissue amyloid tumor|amyloid tumor|amyloid tumor (morphologic abnormality)|amyloid neoplasm UMLS:C1706802|UMLS:C0333572|NCIT:C8323|ICD9:714.32|DOID:6755 owl:Class MONDO:0011267 biolink:NamedThing intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration tmpte7i6ely_mondo_relaxed.owl intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration|Mrst|mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration OMIM:602685|MESH:C566429|UMLS:C1864549 owl:Class MONDO:0009760 biolink:NamedThing Norman-Roberts syndrome Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. tmpte7i6ely_mondo_relaxed.owl LIS2|lissencephaly 2|lissencephaly syndrome, Norman-Roberts type|lissencephaly type 2|lissencephaly syndrome Norman-Roberts type|Norman Roberts lissencephaly syndrome|Norman-Roberts syndrome|Microlissencephaly type A Orphanet:89844|ICD10:Q04.3|DOID:0060902|OMIM:257320|GARD:0003277|UMLS:C0796089|SCTID:717977003 owl:Class MONDO:0004981 biolink:NamedThing atrial fibrillation A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) tmpte7i6ely_mondo_relaxed.owl A-fib|AF|AFib|atrial fibrillation (disease)|atrial fibrillation atrial fibrillation (disease) HP:0005110|NCIT:C50466|OMIM:613120|ICD9:427.31|ICD10:I48|EFO:0000275|SCTID:49436004|DOID:0060224|OMIM:615770|UMLS:C0004238|OMIM:611819 owl:Class MONDO:0000144 biolink:NamedThing pregnancy loss, recurrent, susceptibility tmpte7i6ely_mondo_relaxed.owl See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759. owl:Class GO:0051353 biolink:NamedThing positive regulation of oxidoreductase activity Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpte7i6ely_mondo_relaxed.owl stimulation of oxidoreductase activity|ribonucleotide reductase activating enzyme activity|oxidoreductase activator|upregulation of oxidoreductase activity|up regulation of oxidoreductase activity|up-regulation of oxidoreductase activity|activation of oxidoreductase activity owl:Class MONDO:0017750 biolink:NamedThing defect in conserved oligomeric Golgi complex tmpte7i6ely_mondo_relaxed.owl defect in COG complex ICD10:E77.8|Orphanet:309568 owl:Class GO:0051648 biolink:NamedThing vesicle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl establishment and maintenance of vesicle localization|vesicle localisation|cytoplasmic vesicle localization owl:Class GO:0051640 biolink:NamedThing organelle localization Any process in which an organelle is transported to, and/or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl organelle localisation|establishment and maintenance of organelle localization owl:Class MONDO:0007629 biolink:NamedThing fragile site 10Q23 tmpte7i6ely_mondo_relaxed.owl fragile site 10Q23|fragile site type 10Q23 UMLS:C1850987|OMIM:136540 owl:Class MONDO:0010135 biolink:NamedThing thyroid dyshormonogenesis 3 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene. tmpte7i6ely_mondo_relaxed.owl thyroid dyshormonogenesis 3|thyroid hormonogenesis, genetic defect in, 3|hypothyroidism, congenital, due to dyshormonogenesis, 3|TG familial thyroid dyshormonogenesis|familial thyroid dyshormonogenesis caused by mutation in TG|TDH3|thyroid dyshormonogenesis type 3 MESH:C562769|Orphanet:95716|UMLS:C0342194|SCTID:23536000|OMIM:274700 owl:Class MONDO:0002077 biolink:NamedThing low implantation of placenta tmpte7i6ely_mondo_relaxed.owl DOID:1677|ICD9:641.0|SCTID:7792000|ICD10:O44.0 owl:Class MONDO:0005918 biolink:NamedThing placenta praevia Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor. tmpte7i6ely_mondo_relaxed.owl placenta praevia|placenta previa MESH:D010923|EFO:0007442|ICD10:O44|DOID:11060|NCIT:C26858|SCTID:36813001 owl:Class MONDO:0020181 biolink:NamedThing mesenchymatous palpebral tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:98591|UMLS:CN207041 owl:Class MONDO:0003801 biolink:NamedThing corneal intraepithelial neoplasm A squamous cell intraepithelial neoplasia that involves the cornea. tmpte7i6ely_mondo_relaxed.owl corneal intraepithelial neoplasia|cornea squamous cell intraepithelial neoplasia|intraepithelial neoplasia of cornea|cornea intraepithelial neoplasia|intraepithelial neoplasia of the cornea SCTID:420835009|UMLS:C1333159|DOID:6198|NCIT:C6093 owl:Class MONDO:0100020 biolink:NamedThing atypical childhood epilepsy with centrotemporal spikes A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit. tmpte7i6ely_mondo_relaxed.owl atypical benign partial epilepsy of childhood|atonic-benign childhood epilepsy with centrotemporal spikes|pseudo-Lennox syndrome 2018-06-22 22:43:29+00:00 owl:Class MONDO:0030448 biolink:NamedThing immunodeficiency 86 tmpte7i6ely_mondo_relaxed.owl IMD86 OMIM:619549 owl:Class CHEBI:25806 biolink:NamedThing oxygen molecular entity tmpte7i6ely_mondo_relaxed.owl oxygen molecular entities|oxygen molecular entity owl:Class GO:0002577 biolink:NamedThing regulation of antigen processing and presentation Any process that modulates the frequency, rate, or extent of antigen processing and presentation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019336 biolink:NamedThing Gardner syndrome Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. tmpte7i6ely_mondo_relaxed.owl intestinal polyposis, osteomas, sebaceous cysts|polyposis coli and multiple hard and soft tissue tumors|Gardner's syndrome|Gardner syndrome ICD9:759.89|GARD:0006482|SCTID:60876000|UMLS:C0017097|OMIM:175100|MESH:D005736|MedDRA:10017727|Orphanet:79665|NCIT:C6728|ICD10:D12.6 owl:Class MONDO:0019930 biolink:NamedThing Leydig cell hypoplasia due to complete LH resistance tmpte7i6ely_mondo_relaxed.owl 46,XY DSD due to complete LH receptor inactivation|46,XY disorder of sex development due to complete LH receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete luteinizing hormone resistance|46,XY DSD due to complete LH resistance|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete LH resistance|46,XY DSD due to complete luteinizing hormone receptor inactivation Orphanet:96265|ICD10:Q56.1|UMLS:CN206847|OMIM:238320 owl:Class MONDO:0004832 biolink:NamedThing esophagus leiomyoma A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom. tmpte7i6ely_mondo_relaxed.owl esophagus leiomyoma|esophageal leiomyoma|leiomyoma of the esophagus|leiomyoma of esophagus NCIT:C3866|SCTID:276805005|UMLS:C0238114|DOID:960 owl:Class MONDO:0010231 biolink:NamedThing intellectual disability, X-linked 20 tmpte7i6ely_mondo_relaxed.owl MRX20|mental retardation, X-linked 20|intellectual disability, X-linked 20 UMLS:C0796226|OMIM:300047|MESH:C563142 owl:Class HGNC:8079 biolink:NamedThing FRMD7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006520 biolink:NamedThing Achenbach syndrome A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. tmpte7i6ely_mondo_relaxed.owl Achenbach syndrome|paroxysmal hematoma of the finger EFO:1000661|SCTID:238824006|PMID:22915534|DOID:6687|NCIT:C35467 owl:Class MONDO:0018321 biolink:NamedThing atypical juvenile parkinsonism Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. tmpte7i6ely_mondo_relaxed.owl UMLS:CN204972|OMIM:615528|OMIM:615530|UMLS:C4510873|ICD10:G20|SCTID:725146001|Orphanet:391411 owl:Class HGNC:11559 biolink:NamedThing TALDO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025478 biolink:NamedThing venereal tumors, veterinary Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur. tmpte7i6ely_mondo_relaxed.owl veterinary venereal tumors|transmissible venereal tumor|tumor, transmissible venereal|venereal tumors, transmissible|tumors, transmissible venereal|veterinary venereal tumor|venereal tumor, transmissible|tumor, veterinary venereal|tumors, veterinary venereal|venereal tumor, veterinary|transmissible venereal tumors UMLS:C0042465|MESH:D014685 owl:Class OBO:CHR_9606-chr10q24 biolink:NamedThing 10q24 (Human) tmpte7i6ely_mondo_relaxed.owl 104000000 95300000 hg38 owl:Class GO:0009743 biolink:NamedThing response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpte7i6ely_mondo_relaxed.owl response to carbohydrate stimulus owl:Class UBERON:0004402 biolink:NamedThing bone tissue of proximal epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030593 biolink:NamedThing neutrophil chemotaxis The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002170 biolink:NamedThing keratinized cell of the oral mucosa A keratinized cell located in the hard palate or gingiva. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-08-26T02:51:30Z cell owl:Class CL:0002336 biolink:NamedThing buccal mucosa cell An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-20T02:52:54Z cell owl:Class HGNC:5103 biolink:NamedThing HOXA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013853 biolink:NamedThing pontocerebellar hypoplasia type 1B Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene. tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia type 1B|PCH1B|EXOSC3 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3|pontocerebellar hypoplasia, type 1B Orphanet:2254|DOID:0060266|UMLS:C3553449|OMIM:614678 owl:Class MONDO:0009293 biolink:NamedThing glycogen storage disease V Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. tmpte7i6ely_mondo_relaxed.owl McArdle's disease|McArdle type glycogen storage disease|glycogenosis type 5|glycogenosis due to muscle glycogen phosphorylase deficiency|PYGM glycogen storage disease|GSD due to muscle glycogen phosphorylase deficiency|McArdle disease|glycogen storage disease, type V|GSD 5|Pygm deficiency|muscle glycogen phosphorylase deficiency|glycogen storage disease type 5|Mcardle disease|glycogen storage disease type V|GSD type V|glycogenosis type V|glycogen storage disease 5|glycogen storage disease V|GSD type 5|myophosphorylase deficiency|glycogen storage disease due to muscle glycogen phosphorylase deficiency|glycogen storage disease caused by mutation in PYGM|GSD5 ICD10:E74.0|ICD10:E74.04|UMLS:C0017924|NCIT:C84738|GARD:0006528|OMIM:232600|MESH:D006012|DOID:2746|Orphanet:368|MedDRA:10018462|SCTID:55912009 owl:Class MONDO:0010053 biolink:NamedThing hereditary spherocytosis type 3 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene. tmpte7i6ely_mondo_relaxed.owl spherocytosis, hereditary, 3|hereditary spherocytosis 3|spherocytosis, type 3|hereditary spherocytosis caused by mutation in SPTA1|HS3|SPH3|SPTA1 hereditary spherocytosis Orphanet:822|MESH:C567489|DOID:0110918|OMIM:270970|UMLS:C2678338 owl:Class MONDO:0015429 biolink:NamedThing choroideremia-hypopituitarism syndrome tmpte7i6ely_mondo_relaxed.owl CHM-hypopituitarism syndrome UMLS:CN226680|Orphanet:1434 owl:Class GO:0032370 biolink:NamedThing positive regulation of lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl upregulation of lipid transport|up-regulation of lipid transport|stimulation of lipid transport|up regulation of lipid transport|activation of lipid transport owl:Class HGNC:33551 biolink:NamedThing NDUFAF8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0036211 biolink:NamedThing protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpte7i6ely_mondo_relaxed.owl protein modification owl:Class GO:0043412 biolink:NamedThing macromolecule modification The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042588 biolink:NamedThing zymogen granule A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002042 biolink:NamedThing lymphatic vessel endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006260 biolink:NamedThing lingual swellings tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013624 biolink:NamedThing Rafiq syndrome Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 15|MAN1B1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 15|RAFQS|CDG2U|mental retardation, autosomal recessive type 15|autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|MRT15 OMIM:614202|UMLS:C3280127 owl:Class UBERON:0013694 biolink:NamedThing brain endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043280 biolink:NamedThing Wallerian degeneration A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness. tmpte7i6ely_mondo_relaxed.owl Wallerian Degeneration|Wallerian degeneration of the pyramidal tract|Degeneration, Wallerian NCIT:C85223|MESH:D014855|GARD:0007875 https://github.com/monarch-initiative/mondo/issues/2312 owl:Class MONDO:0020632 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 3 tmpte7i6ely_mondo_relaxed.owl IECEE3|epileptic encephalopathy, infantile or early childhood, 3 OMIM:618012|UMLS:CN248521 owl:Class MONDO:0016692 biolink:NamedThing pilomyxoid astrocytoma An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive. tmpte7i6ely_mondo_relaxed.owl PMA ICD10:C71.9|Orphanet:251615|NCIT:C40315|DOID:4845|UMLS:C1519086|ICDO:9425/3|ONCOTREE:PMA owl:Class MONDO:0016691 biolink:NamedThing pilocytic astrocytoma Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. tmpte7i6ely_mondo_relaxed.owl grade I astrocytoma|grade I astrocytic neoplasm|grade I astrocytic tumor|pilocytic astrocytoma|astrocytoma, benign|astrocytoma, pilocytic, benign|Piloid astrocytoma SCTID:763865009|NCIT:C4047|ICDO:9421/1|GARD:0009808|Orphanet:251612|ICD10:C79.1|ONCOTREE:PAST|ICD10:C71.9|MESH:D001254|DOID:4851|UMLS:C0334583 owl:Class HP:0011767 biolink:NamedThing Abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl Parathyroid dysfunction|Parathyroid issue UMLS:C4023198 peter 2012-04-22T04:09:13Z human_phenotype owl:Class MONDO:0012002 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 40 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1. tmpte7i6ely_mondo_relaxed.owl DFNB40|autosomal recessive nonsyndromic deafness type 40|deafness, autosomal recessive 40|autosomal recessive deafness 40|autosomal recessive nonsyndromic deafness 40 ICD10:H90.3|DOID:0110499|OMIM:608264|UMLS:C1842345|MESH:C564266|Orphanet:90636 owl:Class MONDO:0006182 biolink:NamedThing digestive system mixed adenoneuroendocrine carcinoma A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made. tmpte7i6ely_mondo_relaxed.owl mixed Adenoneuroendocrine carcinoma|MANEC|gastrointestinal mixed Adenoneuroendocrine carcinoma|gastrointestinal MANEC|digestive system Mixed Adenoneuroendocrine cancer|digestive system mixed adenoneuroendocrine carcinoma NCIT:C95406|UMLS:C2987129|EFO:1000219|ICDO:8244/3 owl:Class NCBITaxon:359160 biolink:NamedThing BOP clade tmpte7i6ely_mondo_relaxed.owl BEP clade GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009709 biolink:NamedThing ventral pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1224 biolink:NamedThing Proteobacteria tmpte7i6ely_mondo_relaxed.owl purple photosynthetic bacteria|purple bacteria and relatives|purple non-sulfur bacteria|purple bacteria|proteobacteria|Alphaproteobacteriota|purple photosynthetic bacteria and relatives|Alphaproteobacteraeota PMID:11321122|PMID:11837318|GC_ID:11|PMID:26654112|PMID:29458499|PMID:11542017|PMID:16280474 ncbi_taxonomy owl:Class MONDO:0013246 biolink:NamedThing fatty liver disease, nonalcoholic, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl NAFLD2|fatty liver disease, nonalcoholic, susceptibility to, 2 OMIM:613387 owl:Class MONDO:0013209 biolink:NamedThing non-alcoholic fatty liver disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. tmpte7i6ely_mondo_relaxed.owl fatty liver disease, nonalcoholic, susceptibility to, 1|fatty liver disease, nonalcoholic|nonalcoholic fatty liver disease|liver disease, alcoholic, susceptibility to, 1|non-alcoholic fatty liver disease|non-alcoholic fatty liver|NAFLD1|NAFLD|NAFLD - nonalcoholic fatty liver disease OMIM:613387|DOID:0080208|MedDRA:10029530|ICD9:571.8|MESH:D065626|EFO:1001248|OMIM:613282|Orphanet:33271|NCIT:C84444|EFO:0003095|SCTID:197315008 owl:Class MONDO:0003682 biolink:NamedThing localized chondrosarcoma A non-disseminated skeletal or extraskeletal chondrosarcoma. tmpte7i6ely_mondo_relaxed.owl chondrosarcoma, localized|localized chondrosarcoma UMLS:C0855011|DOID:5862|NCIT:C8778 owl:Class MONDO:0018528 biolink:NamedThing congenital myopathy with myasthenic-like onset Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. tmpte7i6ely_mondo_relaxed.owl congenital myopathy with myasthenic-like onset ICD10:G71.2|Orphanet:424107|SCTID:763315005 owl:Class IAO:0000104 biolink:NamedThing plan specification A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043031 biolink:NamedThing negative regulation of macrophage activation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. tmpte7i6ely_mondo_relaxed.owl negative regulation of macrophage polarization|down regulation of macrophage activation|down-regulation of macrophage activation|inhibition of macrophage activation|downregulation of macrophage activation owl:Class MONDO:0000994 biolink:NamedThing malignant prostate phyllodes tumor An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. tmpte7i6ely_mondo_relaxed.owl malignant phyllodes neoplasm of prostate|malignant prostate phyllodes tumor|malignant phyllodes tumor of prostate|malignant prostate phyllodes neoplasm|malignant phyllodes neoplasm of the prostate|malignant phyllodes tumor of the prostate|prostate malignant phyllodes tumor NCIT:C5531|UMLS:C1334615|DOID:10289 owl:Class MONDO:0100232 biolink:NamedThing psoriatic arthritis, susceptibility to An inherited susceptibility or predisposition to developing psoriatic arthritis. tmpte7i6ely_mondo_relaxed.owl psoriatic arthritis, susceptibility to|psoriatic arthritis, susceptibility owl:Class GO:0120036 biolink:NamedThing plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003545 biolink:NamedThing intradural extramedullary spinal canal neoplasm A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression. tmpte7i6ely_mondo_relaxed.owl intradural extramedullary tumor of the spinal canal|intradural extramedullary spinal canal neoplasm|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary spinal canal tumor|intradural extramedullary neoplasm of spinal canal|intradural extramedullary spinal canal tumors|intradural extramedullary tumor of spinal canal|spinal canal intradural extramedullary neoplasm|intradural extramedullary spinal neoplasms|intradural extramedullary spinal tumors DOID:5615|NCIT:C5135|UMLS:C1334255 owl:Class MONDO:0017405 biolink:NamedThing 1p21.3 microdeletion syndrome 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. tmpte7i6ely_mondo_relaxed.owl Del(1)p(21.3)|monosomy 1p21.3 SCTID:719600006|UMLS:CN203152|UMLS:C4304578|ICD10:Q93.5|Orphanet:293948 owl:Class MONDO:0006066 biolink:NamedThing acinar prostate adenocarcinoma, foamy gland variant A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm. tmpte7i6ely_mondo_relaxed.owl EFO:1000064|UMLS:C1515863|NCIT:C39882 owl:Class UBERON:8410042 biolink:NamedThing arteriole of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001295 biolink:NamedThing idiopathic peripheral autonomic neuropathy tmpte7i6ely_mondo_relaxed.owl DOID:11488|ICD9:337.0|UMLS:C0154690|ICD10:G90.0|ICD9:337.00|ICD10:G90.09|SCTID:86489003 owl:Class MONDO:0005725 biolink:NamedThing cyclosporiasis A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. tmpte7i6ely_mondo_relaxed.owl Cyclospora cayetanensis infectious disease|intestinal infection caused by Cyclospora cayetanensis|infection of intestine caused by Cyclospora cayetanensis|Cyclospora infection|Cyclospora caused disease or disorder|Cyclospora cayetanensis caused disease or disorder|Cyclospora infectious disease|Cyclospora cayetanensis disease or disorder|Cyclospora disease or disorder|cyclosporosis SCTID:716860005|UMLS:C0343398|MESH:D021866|ICD10:A07.4|ICD9:007.5|SCTID:240372001|UMLS:C4274225|EFO:0007230|ICD10:A07.3|GARD:0009528|Orphanet:210|DOID:12750|NCIT:C128409 https://github.com/monarch-initiative/mondo/issues/3694 owl:Class MONDO:0004217 biolink:NamedThing childhood brain germinoma A germinoma arising from the brain during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric brain germinoma|germinoma of the pediatric brain|germinoma of the childhood brain|germinoma of childhood brain|pediatric brain germ cell cancer|germinoma of pediatric brain|brain germinoma of childhood NCIT:C6207|UMLS:C1332948|DOID:7429 owl:Class MONDO:0012885 biolink:NamedThing SRD5A3-CDG SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation, type Iq|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|SRD5A3-CDG (CDG-Iq)|CDGIq|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|CDG-Iq|CDG Iq|CDG1Q|congenital disorder of glycosylation type Iq|CDG syndrome type Iq|congenital disorder of glycosylation type 1q SCTID:733601006|Orphanet:324737|UMLS:C3150191|DOID:0080568|OMIM:612379|UMLS:C4317224|GARD:0012397|ICD10:E77.8 owl:Class MONDO:0021116 biolink:NamedThing luminal A breast carcinoma A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. tmpte7i6ely_mondo_relaxed.owl Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A breast cancer|Luminal A breast carcinoma|Luminal A|Luminal A subtype of breast carcinoma UMLS:C3642345|NCIT:C53554 owl:Class HGNC:8022 biolink:NamedThing NT5C2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30696 biolink:NamedThing WDR36 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044637 biolink:NamedThing infantile-onset generalized dyskinesia with orofacial involvement tmpte7i6ely_mondo_relaxed.owl infantile-onset orofacial-trunk-limbs dyskinesia Orphanet:494526 owl:Class HGNC:11740 biolink:NamedThing TF tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28178 biolink:NamedThing CCDC115 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012167 biolink:NamedThing buccal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004650 biolink:NamedThing tongue keratinized epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022843 biolink:NamedThing congenital mumps tmpte7i6ely_mondo_relaxed.owl GARD:0001498 https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps owl:Class MONDO:0001710 biolink:NamedThing perforation of bile duct A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes. tmpte7i6ely_mondo_relaxed.owl ICD10:K83.2|UMLS:C0156218|SCTID:37439003|ICD9:576.3|DOID:13409|NCIT:C78528 owl:Class HGNC:23419 biolink:NamedThing KIFBP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018031 biolink:NamedThing granulomatous slack skin disease Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. tmpte7i6ely_mondo_relaxed.owl granulomatous slack skin GARD:0010986|UMLS:C0376407|NCIT:C35464|Orphanet:33111|ICD10:C84.0|SCTID:277796003 owl:Class UBERON:0004806 biolink:NamedThing vas deferens epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044330 biolink:NamedThing hyperekplexia 4 Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400). tmpte7i6ely_mondo_relaxed.owl hyperekplexia 4|HKPX4 DOID:0080581|UMLS:CN248518|OMIM:618011 owl:Class MONDO:0007372 biolink:NamedThing cornea plana 1, autosomal dominant tmpte7i6ely_mondo_relaxed.owl CNA1|cornea plana 1, autosomal dominant|cornea plana 1 Orphanet:53691|UMLS:C1852557|MESH:C565158|OMIM:121400 owl:Class GO:0052547 biolink:NamedThing regulation of peptidase activity Any process that modulates the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpte7i6ely_mondo_relaxed.owl peptidase regulator activity owl:Class MONDO:0019675 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. tmpte7i6ely_mondo_relaxed.owl SEMD-JL|spondyloepimetaphyseal dysplasia joint laxity|SEMDJL|spondyloepimetaphyseal dysplasia with joint laxity type 1|SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity|spondyloepimetaphyseal dysplasia with joint laxity, Beighton type DOID:0112197|ICD10:Q77.7|GARD:0004982|OMIM:271640|Orphanet:93359|OMIMPS:271640|MESH:C562968|ICD9:756.9|ICD9:719.80|SCTID:254100000 owl:Class CHEBI:36527 biolink:NamedThing glycosylsphingoid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0040732 biolink:NamedThing Pseudomonas aeruginosa infectious disease tmpte7i6ely_mondo_relaxed.owl infection caused by Pseudomonas aeruginosa|infection due to Pseudomonas aeruginosa UMLS:C0276075|SCTID:11218009 owl:Class HGNC:1665 biolink:NamedThing SCARB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044648 biolink:NamedThing kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome tmpte7i6ely_mondo_relaxed.owl kyphoscoliosis-lateral tongue atrophy-HSP syndrome Orphanet:496689 owl:Class MONDO:0018114 biolink:NamedThing isolated brachycephaly Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. tmpte7i6ely_mondo_relaxed.owl non-syndromic bicoronal synostosis Orphanet:35099|OMIM:616602|OMIM:123100|OMIM:615314|ICD10:Q75.0 owl:Class MONDO:0019679 biolink:NamedThing brachydactyly type A7 Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. tmpte7i6ely_mondo_relaxed.owl brachydactyly Smorgasbord type|brachydactyly, Smorgasbord type Orphanet:93397|SCTID:720571006|ICD10:Q73.8|GARD:0000984|UMLS:CN206603 https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7 owl:Class MONDO:0014959 biolink:NamedThing mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant tmpte7i6ely_mondo_relaxed.owl MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A UMLS:C4310676|OMIM:617184|DOID:0080130 owl:Class UBERON:0001668 biolink:NamedThing cerebellar vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15532 biolink:NamedThing JAM3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011673 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 30 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 30|deafness, autosomal dominant 30|DFNA30|autosomal dominant nonsyndromic deafness 30|autosomal dominant nonsyndromic deafness type 30 ICD10:H90.3|Orphanet:90635|DOID:0110560|MESH:C564706|OMIM:606451|UMLS:C1847972 owl:Class MONDO:0012282 biolink:NamedThing Al-Gazali syndrome An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. tmpte7i6ely_mondo_relaxed.owl Al Gazali Al Talabani syndrome|Al Gazali syndrome|Al-Gazali syndrome|eye defects arachnodactyly cardiopathy Orphanet:2725|OMIM:609465|UMLS:C1836121|GARD:0010054|MESH:C536817 https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome owl:Class MONDO:0010591 biolink:NamedThing fingerprint body myopathy Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. tmpte7i6ely_mondo_relaxed.owl fingerprint body myopathy ICD10:G71.2|GARD:0012720|OMIM:305550|Orphanet:97232|UMLS:C1844560|MESH:C564425 https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy owl:Class UBERON:0036352 biolink:NamedThing wall of subclavian artery tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23849 biolink:NamedThing diterpenoid Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). tmpte7i6ely_mondo_relaxed.owl diterpenoids|C20 isoprenoids|diterpenoides owl:Class MONDO:0056820 biolink:NamedThing nasal cavity and paranasal sinus neoplasm A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl nasal cavity and paranasal sinus neoplasm UMLS:C1334925|NCIT:C7336 Editor note: TODO add uberon term owl:Class MONDO:0008374 biolink:NamedThing retinal cone dystrophy type 1 tmpte7i6ely_mondo_relaxed.owl RCD1|cone dystrophy, autosomal dominant|retinal cone dystrophy 1|retinal cone Degeneration|cone dystrophy autosomal dominant GARD:0003196|OMIM:180020|MESH:C566719|Orphanet:1871 owl:Class CHEBI:46629 biolink:NamedThing oxo group tmpte7i6ely_mondo_relaxed.owl =O|OXO GROUP|oxo owl:Class HGNC:3157 biolink:NamedThing EDA tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0070006 biolink:NamedThing bipolar morphology A cell morphology that inheres in neurons which have two principal fibres (dendrites or axon) that emerge from the soma and begin to branch some distance from it, have few spines, and branch in narrow fields. This is in contrast to bitufted morphology where branching occurs close to the soma. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0010006 biolink:NamedThing cell morphology A quality of a single cell inhering in the bearer by virtue of the bearer's size or shape or structure. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6597 biolink:NamedThing LIFR tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00003082 biolink:NamedThing enriched soil A portion of enriched soil is a portion of soil with elevated levels of some material entity. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0007378 biolink:NamedThing Neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl Gastrointestinal tract neoplasm|Gastrointestinal tract tumor|GI tract tumor|Gastrointestinal tract tumour|Neoplasm of the GI tract|Gastrointestinal tract neoplasia|GI tract tumour MSH:D005770|NCIT:C3262|SNOMEDCT_US:126768004|UMLS:C0017185 peter 2008-04-01T11:55:00Z human_phenotype owl:Class HP:0010884 biolink:NamedThing Acromelia Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023675 peter 2010-09-20T11:17:40Z human_phenotype owl:Class HP:0009815 biolink:NamedThing Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. tmpte7i6ely_mondo_relaxed.owl Short or absent limbs|Shortened limbs|Absent/underdeveloped extremities|Absent/small extremities UMLS:C0239399 doelkens 2009-02-23T05:06:40Z HP:0006497|HP:0002969 human_phenotype owl:Class HGNC:16725 biolink:NamedThing DNAAF11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006957 biolink:NamedThing root caries Dental caries involving the tooth root, cementum, or cervical area of the tooth. tmpte7i6ely_mondo_relaxed.owl cementum caries|root caries|cementum dental caries|dental caries of root surface|dental caries of cementum SCTID:30512007|MESH:D017213|DOID:14089|EFO:1001163|UMLS:C0162644|ICD9:521.08 owl:Class PCO:0000001 biolink:NamedThing population of organisms A collection of organisms, all of the same species, that live in the same place. tmpte7i6ely_mondo_relaxed.owl owl:Class PCO:0000018 biolink:NamedThing single-species collection of organisms A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003049 biolink:NamedThing ovarian large-cell neuroendocrine carcinoma A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl ovary large cell neuroendocrine carcinoma|non-small-cell type neuroendocrine carcinoma of ovary|large-cell neuroendocrine carcinoma of the ovary|non-small-cell type neuroendocrine carcinoma of the ovary|ovarian large cell NEC|large cell neuroendocrine carcinoma of the ovary|large-cell neuroendocrine carcinoma of ovary|ovarian non-small-cell type neuroendocrine carcinoma|large cell neuroendocrine carcinoma of ovary|ovarian large cell neuroendocrine carcinoma NCIT:C5238|DOID:4555|UMLS:C1335174 owl:Class SO:0000001 biolink:NamedThing region A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids. tmpte7i6ely_mondo_relaxed.owl sequence owl:Class SO:0000110 biolink:NamedThing sequence_feature Any extent of continuous biological sequence. tmpte7i6ely_mondo_relaxed.owl INSDC_feature:misc_feature|located sequence feature|INSDC_note:other|INSDC_note:sequence_feature|located_sequence_feature|sequence feature owl:Class BFO:0000002 biolink:NamedThing continuant An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.|An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. tmpte7i6ely_mondo_relaxed.owl Continuant continuant BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240|Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants continuant A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002]) (forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] |(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] |(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] |(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002])|if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])|if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002]) owl:Class MONDO:0020752 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl EJM1 The OMIM entry is named generically, the same as the PS (https://omim.org/phenotypicSeries/PS254770) but it refers to a susceptibility conferred by a specific gene. https://github.com/monarch-initiative/mondo/issues/1348|https://github.com/monarch-initiative/mondo/issues/4147 owl:Class MONDO:0014310 biolink:NamedThing hereditary sclerosing poikiloderma with tendon and pulmonary involvement Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. tmpte7i6ely_mondo_relaxed.owl hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis|POIKTMP syndrome|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis|hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement|POIKTMP OMIM:615704|ICD10:Q82.8|GARD:0013218|Orphanet:221043|UMLS:C3810325 owl:Class UBERON:0004938 biolink:NamedThing submucosa of biliary tree tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021941 biolink:NamedThing infection by Trypanosoma rhodesiense An infection with Trypanosoma brucei rhodesiense. tmpte7i6ely_mondo_relaxed.owl infection by trypanosoma rhodesiense|rhodesian trypanosomiasis|acute sleeping sickness|rhodesian sleeping sickness|infection caused by trypanosoma rhodesiense SCTID:42872003|UMLS:C0041233|NCIT:C35085|ICD9:086.4 owl:Class MONDO:0018951 biolink:NamedThing distal myopathy with vocal cord weakness Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction. tmpte7i6ely_mondo_relaxed.owl MPD2|vocal cord and pharyngeal distal myopathy|distal myopathy 2|MATR3-related distal myopathy|VCPDM ICD10:G71.0|OMIM:606070|UMLS:CN205357|Orphanet:600|GARD:0001887 owl:Class CL:0002573 biolink:NamedThing Schwann cell A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0898|BTO:0001220 tmeehan 2011-03-02T01:19:27Z cell owl:Class CL:0011012 biolink:NamedThing neural crest cell A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:9046 biolink:NamedThing PLAGL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018823 biolink:NamedThing X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN776924|Orphanet:480907 owl:Class GO:0000323 biolink:NamedThing lytic vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001302 biolink:NamedThing hypertensive heart disease Abnormal enlargement of the heart resulting from long-standing hypertension. tmpte7i6ely_mondo_relaxed.owl hypertensive cardiovascular disease|hypertensive cardiomegaly|hypertensive heart disease|hypertensive cardiopathy UMLS:C0152105|DOID:11516|ICD10:I11.9|ICD9:402.9|NCIT:C4907|ICD9:402|ICD10:I11|SCTID:64715009 owl:Class MONDO:0001624 biolink:NamedThing acute sphenoidal sinusitis Acute form of sphenoid sinusitis. tmpte7i6ely_mondo_relaxed.owl sphenoidal sinus -acute|sphenoid sinusitis, acute|acute sphenoid sinusitis UMLS:C0155807|ICD10:J01.30|SCTID:77919000|ICD10:J01.3|ICD9:461.3|DOID:13046 owl:Class MONDO:0018870 biolink:NamedThing arterial calcification of infancy Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries. tmpte7i6ely_mondo_relaxed.owl generalized arterial calcification in infancy|IIAC|idiopathic obliterative arteriopathy|idiopathic infantile arterial calcification|occlusive infantile arteriopathy|generalized arterial calcification of infancy|infantile arteriosclerosis MESH:C537440|DOID:0050644|ICD10:Q28.8|OMIM:614473|GARD:0008380|Orphanet:51608|OMIM:208000|OMIMPS:208000 owl:Class MONDO:0006403 biolink:NamedThing salivary gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpte7i6ely_mondo_relaxed.owl salivary gland carcinoma ex pleomorphic adenoma|saliva-secreting gland carcinoma ex pleomorphic adenoma|pleomorphic adenoma carcinoma DOID:297|UMLS:C1519172|NCIT:C40410|EFO:1000516 Editor note: DO class placed here as it denotes a salivary gland specific form owl:Class UBERON:0003404 biolink:NamedThing lobar bronchus of right lung tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33692 biolink:NamedThing hydrides Hydrides are chemical compounds of hydrogen with other chemical elements. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33608 biolink:NamedThing hydrogen molecular entity tmpte7i6ely_mondo_relaxed.owl hydrogen compounds|hydrogen molecular entities owl:Class MONDO:0004831 biolink:NamedThing proliferative fasciitis A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. tmpte7i6ely_mondo_relaxed.owl UMLS:C0432528|NCIT:C4728|DOID:9599|SCTID:254737002 owl:Class MONDO:0014079 biolink:NamedThing restless legs syndrome, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl restless legs syndrome, susceptibility to, 8|RLS8 OMIM:615197 owl:Class MONDO:0008062 biolink:NamedThing narcolepsy 1 A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy. tmpte7i6ely_mondo_relaxed.owl HCRT narcolepsy|narcoleptic syndrome 1|NRCLP1|cataplexy|narcolepsy caused by mutation in HCRT|narcolepsy 1|narcolepsy type 1 NCIT:C84618|SCTID:46263000|UMLS:C1834372|Orphanet:2073|OMIM:161400 owl:Class MONDO:0010821 biolink:NamedThing familial developmental dysphasia Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. tmpte7i6ely_mondo_relaxed.owl specific language impairment|developmental dysphasia familial|Billard-Toutain-Maheut syndrome|developmental language disorder|FOXP2-associated dysphasia|dysphasia, familial developmental OMIM:600117|Orphanet:1799|ICD10:F80.1|GARD:0001823|UMLS:C1838630|MESH:C563997|SCTID:721220004 https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial owl:Class MONDO:0100423 biolink:NamedThing acute myeloid leukemia, PTPN11 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, BPTP3 Gene Mutation|AML, PTPN11 gene mutation|AML, SH-PTP2 Gene Mutation|AML, SHP-2 Gene Mutation|AML, SHP2 Gene Mutation|AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation|AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation|AML, PTP2C Gene Mutation|AML, PTP-1D Gene Mutation NCIT:C82612 owl:Class GO:2000825 biolink:NamedThing positive regulation of androgen receptor activity Any process that activates or increases the frequency, rate or extent of androgen receptor activity. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0051091 biolink:NamedThing positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpte7i6ely_mondo_relaxed.owl positive regulation of transcription factor activity|positive regulation of DNA binding transcription factor activity|up regulation of transcription factor activity|positive regulation of thyroid hormone receptor activity|upregulation of transcription factor activity|positive regulation of sequence-specific DNA binding transcription factor activity|activation of transcription factor activity|stimulation of transcription factor activity|up-regulation of transcription factor activity owl:Class MONDO:0014133 biolink:NamedThing developmental and epileptic encephalopathy, 16 tmpte7i6ely_mondo_relaxed.owl EIEE16|epileptic encephalopathy, early infantile, type 16|epileptic encephalopathy, early infantile, 16|DEE16 DOID:0080449|UMLS:C3809173|Orphanet:293181|Orphanet:352596|OMIM:615338 owl:Class MONDO:0013178 biolink:NamedThing congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. tmpte7i6ely_mondo_relaxed.owl LMNA congenital muscular dystrophy|muscular dystrophy Congenital, LMNA-related|LMNA-related congenital muscular dystrophy|congenital muscular dystrophy LMNA-related|congenital muscular dystrophy caused by mutation in LMNA|muscular dystrophy, congenital, LMNA-related|MDCL|L-CMD ICD10:G71.2|OMIM:613205|UMLS:C2750785|GARD:0012585|DOID:0110640|Orphanet:157973|NCIT:C148369|MESH:C567708 https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation owl:Class HGNC:8786 biolink:NamedThing PDE6B tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38716 biolink:NamedThing carboxylic acid dianion Any dianion containing at least one carboxy group. tmpte7i6ely_mondo_relaxed.owl carboxylic acid dianions|carboxylic acid dianion owl:Class MONDO:0024247 biolink:NamedThing benign eccrine neoplasm A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma. tmpte7i6ely_mondo_relaxed.owl benign eccrine skin tumor|benign eccrine neoplasm of skin|benign eccrine tumor|benign eccrine neoplasm|benign skin tumor with eccrine differentiation|benign eccrine neoplasm of the skin|eccrine sweat gland neoplasm, benign|benign eccrine sweat gland neoplasm|benign eccrine tumor of skin|benign eccrine tumor of the skin|benign eccrine skin neoplasm SCTID:254715009|UMLS:C1332493|NCIT:C6797 owl:Class MONDO:0032848 biolink:NamedThing immunodeficiency 65, susceptibility to viral infections tmpte7i6ely_mondo_relaxed.owl IMD65|IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS OMIM:618648 owl:Class MONDO:0009047 biolink:NamedThing cryptorchidism The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. tmpte7i6ely_mondo_relaxed.owl undescended testes|cryptorchidism (disease)|cryptorchidism|cryptorchism|undescended testicle|undescended testicles|undescended testis|cryptorchidism, unilateral or bilateral cryptorchidism (disease) SCTID:204878001|NCIT:C12326|EFO:0004562|HP:0000028|MESH:D003456|ICD9:752.5|ICD9:752.51|ICD10:Q53.9|DOID:11383|OMIM:219050 owl:Class HGNC:19714 biolink:NamedThing DDHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001109 biolink:NamedThing caprine dairy food product tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001107 biolink:NamedThing bovine dairy food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032594 biolink:NamedThing intellectual developmental disorder and retinitis pigmentosa; IDDRP tmpte7i6ely_mondo_relaxed.owl IDDRP|INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA OMIM:618195 owl:Class GO:0036094 biolink:NamedThing small molecule binding Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1675 biolink:NamedThing CD3G tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023510 biolink:NamedThing Jaffer-Beighton syndrome tmpte7i6ely_mondo_relaxed.owl arachnodactyly, joint laxity, and spondylolisthesis|Jaffer Beighton syndrome UMLS:C2931533|MESH:C537561|GARD:0003040 https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome owl:Class MONDO:0008475 biolink:NamedThing spondylolisthesis A condition in which there is forward displacement of a vertebral bone over the on below it. tmpte7i6ely_mondo_relaxed.owl spondylolisthesis|spondylolisthesis (disease) spondylolisthesis (disease) NCIT:C35033|HP:0003302|DOID:6682|ICD10:M43.1|SCTID:274152003|MESH:D013168|OMIM:184200|ICD10:M43.10|EFO:0007493|UMLS:C0038016 owl:Class MONDO:0020059 biolink:NamedThing gonosome number anomaly tmpte7i6ely_mondo_relaxed.owl Sex-chromosome number anomaly 2022-04-01 Orphanet:98156 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class MONDO:0007284 biolink:NamedThing cataract 20 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. tmpte7i6ely_mondo_relaxed.owl CTRCT20|cataract 20, multiple types|CRYGS cataract (disease)|cataract (disease) caused by mutation in CRYGS Orphanet:91492|Orphanet:98994|ICD10:Q12.0|DOID:0110240|OMIM:116100 owl:Class MONDO:0002267 biolink:NamedThing obstructive lung disease Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent. tmpte7i6ely_mondo_relaxed.owl respiratory airway obstruction MESH:D008173|DOID:2320|UMLS:C0600260 owl:Class HP:0011028 biolink:NamedThing Abnormality of blood circulation An abnormality of blood circulation. tmpte7i6ely_mondo_relaxed.owl Blood circulation disorder UMLS:C4023585|UMLS:C4020760 peter 2011-03-03T10:25:21Z human_phenotype owl:Class MONDO:0004316 biolink:NamedThing acantholytic squamous cell skin carcinoma A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis. tmpte7i6ely_mondo_relaxed.owl acantholytic squamous cell carcinoma of the skin|acantholytic squamous cell skin carcinoma|acantholytic squamous cell carcinoma of skin NCIT:C4460|UMLS:C0345979|SCTID:254654004|DOID:7643 owl:Class HGNC:4081 biolink:NamedThing GABRB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009504 biolink:NamedThing mitochondrial DNA depletion syndrome 9 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome 9|mitochondrial DNA depletion syndrome type 9|succinate-CoA ligase deficiency|lactic acidosis, fatal infantile, formerly|SUCLG1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1|lactic acidosis congenital infantile|fatal infantile lactic acidosis with methylmalonic aciduria|mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|MTDPS9|lactic acidosis, fatal infantile Orphanet:17|OMIM:245400|ICD10:E71.1|MESH:C566885|GARD:0003163|SCTID:715338007|MESH:C538134|DOID:0080128 https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile owl:Class MONDO:0012317 biolink:NamedThing visceral neuropathy, familial, 3, autosomal dominant tmpte7i6ely_mondo_relaxed.owl pseudoobstruction, idiopathic intestinal|visceral neuropathy, familial, autosomal dominant|enteric neuropathy, familial|pseudoobstruction, chronic intestinal, neuropathic UMLS:C1864996|Orphanet:2978|OMIM:609629 owl:Class MONDO:0017673 biolink:NamedThing isolated focal palmoplantar keratoderma A focal palmoplantar keratoderma that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl isolated focal palmoplantar hyperkeratosis|isolated focal keratosis palmoplantaris|nonsyndromic focal palmoplantar keratoderma|isolated focal PPK Orphanet:307846|ICD10:Q82.8 owl:Class MONDO:0011836 biolink:NamedThing thyroid Hurthle cell carcinoma tmpte7i6ely_mondo_relaxed.owl follicular thyroid cancer, Hurthle cell type|oncocytic carcinoma of the thyroid|thyroid cancer, Hurthle cell|Hurthle cell thyroid cancer|Hurthle cell thyroid neoplasia|thyroid carcinoma, Hurthle cell|thyroid cancer, follicular, Hurthle cell type SCTID:423158009|DOID:8161|ONCOTREE:THHC|Orphanet:146|GARD:0009428|OMIM:607464|MESH:C536913 owl:Class MONDO:0100226 biolink:NamedThing parasomnia, sleepwalking type A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%). tmpte7i6ely_mondo_relaxed.owl PSMNSW|sleepwalking disorder|parasomnia, sleepwalking type|sleep walking|parasomnia, sleep terrors type|sleep walking disorder|somnambulism OMIM:613938|MESH:D013009 Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term. https://github.com/monarch-initiative/mondo/issues/2083 owl:Class NCBITaxon:33351 biolink:NamedThing Panheteroptera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33349 biolink:NamedThing Neoheteroptera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013301 biolink:NamedThing aromatase deficiency Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. tmpte7i6ely_mondo_relaxed.owl aromatase deficiency|pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency OMIM:613546|GARD:0000365|ICD10:E25.8|NCIT:C120144|MESH:C537436|Orphanet:91|UMLS:C1960539 https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency owl:Class NCBITaxon:6249 biolink:NamedThing Ascaridomorpha tmpte7i6ely_mondo_relaxed.owl Ascaridida GC_ID:1 NCBITaxon:33255 ncbi_taxonomy owl:Class HGNC:7373 biolink:NamedThing MSN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18286 biolink:NamedThing RAX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022407 biolink:NamedThing retinal ciliopathy due to mutation in bardet-biedl gene tmpte7i6ely_mondo_relaxed.owl Orphanet:156183 owl:Class HGNC:3495 biolink:NamedThing ETV6 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0032101 biolink:NamedThing Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. tmpte7i6ely_mondo_relaxed.owl 2018-11-04 22:23:03+00:00 peter human_phenotype owl:Class MONDO:0032801 biolink:NamedThing erythrokeratodermia variabilis et progressiva 6 tmpte7i6ely_mondo_relaxed.owl ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6|EKVP6 OMIM:618531 owl:Class HGNC:19077 biolink:NamedThing NCR3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002059 biolink:NamedThing submandibular ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010166 biolink:NamedThing ulnar agenesis and endocardial fibroelastosis tmpte7i6ely_mondo_relaxed.owl ulnar agenesis and endocardial fibroelastosis UMLS:C1848649|OMIM:276822|MESH:C564756 owl:Class MONDO:0001611 biolink:NamedThing phlegmonous dacryocystitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0155238|ICD10:H04.31|ICD9:375.33|SCTID:64324003|DOID:12997 owl:Class HP:0011443 biolink:NamedThing Abnormality of coordination tmpte7i6ely_mondo_relaxed.owl Abnormality of coordination|Coordination issue UMLS:C4023353 peter 2012-03-18T02:40:46Z human_phenotype owl:Class UBERON:0005005 biolink:NamedThing mucosa of left ureter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032230 biolink:NamedThing positive regulation of synaptic transmission, GABAergic Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpte7i6ely_mondo_relaxed.owl up-regulation of synaptic transmission, GABAergic|upregulation of synaptic transmission, GABAergic|activation of synaptic transmission, GABAergic|stimulation of synaptic transmission, GABAergic|up regulation of synaptic transmission, GABAergic owl:Class GO:2000836 biolink:NamedThing positive regulation of androgen secretion Any process that activates or increases the frequency, rate or extent of androgen secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:260963 biolink:NamedThing Avulavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2560069 biolink:NamedThing Avulavirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014518 biolink:NamedThing platelet-type bleeding disorder 19 Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene. tmpte7i6ely_mondo_relaxed.owl isolated hereditary giant platelet disorder caused by mutation in PRKACG|BDPLT19|severe autosomal recessive macrothrombocytopenia|bleeding disorder, platelet-type, 19|PRKACG isolated hereditary giant platelet disorder UMLS:C4015405|OMIM:616176|DOID:0111048|Orphanet:438207|ICD10:D69.4 owl:Class HP:0100765 biolink:NamedThing Abnormality of the tonsils An abnormality of the tonsils. tmpte7i6ely_mondo_relaxed.owl UMLS:C4021975 doelkens 2011-06-07T10:43:35Z human_phenotype owl:Class HP:0006817 biolink:NamedThing Aplasia/Hypoplasia of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. tmpte7i6ely_mondo_relaxed.owl Cerebellar vermis aplasia/hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia or hypoplasia UMLS:C3280770|UMLS:C1855676 HP:0007080|HP:0005690 human_phenotype owl:Class CL:0001032 biolink:NamedThing cortical granule cell Granule cell that is part of the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0042737 biolink:NamedThing drug catabolic process The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease. tmpte7i6ely_mondo_relaxed.owl drug catabolism|drug degradation|drug breakdown owl:Class GO:0044248 biolink:NamedThing cellular catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl cellular degradation|cellular breakdown|cellular catabolism owl:Class MONDO:0017109 biolink:NamedThing isolated partial cerebellar vermis agenesis tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|Orphanet:269209 owl:Class MONDO:0017107 biolink:NamedThing isolated cerebellar vermis agenesis tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|Orphanet:269203 owl:Class MONDO:0030841 biolink:NamedThing mismatch repair cancer syndrome 3 tmpte7i6ely_mondo_relaxed.owl MMRCS3|mismatch repair cancer syndrome 3 OMIM:619097 owl:Class MONDO:0005780 biolink:NamedThing hantavirus infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. tmpte7i6ely_mondo_relaxed.owl disease caused by hantavirus|infections, Hantavirus|disease due to hantavirus|Hantavirus disease or disorder|Hantavirus infection|Hantavirus caused disease or disorder|Hantavirus infectious disease ICD9:079.81|MESH:D018778|EFO:0007295|SCTID:359761005|UMLS:C0242994|NCIT:C3899 MONDO:0042492 owl:Class MONDO:0005555 biolink:NamedThing cycloplegia Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. tmpte7i6ely_mondo_relaxed.owl loss of accommodation|paralysis of accommodation|ciliary muscle paresis|cycloplegia|accommodative paresis|paresis of accommodation|visual accommodation paralysis|cycloplegic paralysis of accommodation SCTID_2010_1_31:232141000|ICD10:H52.52|UMLS:C0235238|SCTID_2010_1_31:255335004|SCTID:68158006|DOID:10033|ICD9:367.51|EFO:0005758|SCTID_2010_1_31:68158006|Wikipedia:Cycloplegia owl:Class NCBITaxon:1658400 biolink:NamedThing Hectopsyllidae tmpte7i6ely_mondo_relaxed.owl Tungidae|Tunginae GC_ID:1 NCBITaxon:163162 ncbi_taxonomy owl:Class NCBITaxon:129369 biolink:NamedThing Pulicoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014152 biolink:NamedThing left ventricular noncompaction 8 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 1Ll|left ventricular noncompaction 8|LVNC8|left ventricular noncompaction type 8|familial isolated dilated cardiomyopathy caused by mutation in PRDM16|PRDM16 familial isolated dilated cardiomyopathy UMLS:C3809288|Orphanet:54260|OMIM:615373 This appears in the series 115200 because of an included entity. owl:Class MONDO:0004307 biolink:NamedThing sarcomatosis of the meninges A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis. tmpte7i6ely_mondo_relaxed.owl meningeal cluster sarcomatosis|meningeal sarcomatosis|sarcomatosis of the meninges|meningeal sarcomatosis (morphologic abnormality)|sarcomatosis of meninges|meninges sarcomatosis DOID:7613|NCIT:C4334|UMLS:C0334612|ICDO:9539/3 owl:Class MONDO:0008049 biolink:NamedThing myopathy, distal, infantile-onset tmpte7i6ely_mondo_relaxed.owl myopathy, distal, infantile-onset DOID:0070196|UMLS:C1834556|OMIM:160300|UMLS:C4011725 owl:Class MONDO:0016503 biolink:NamedThing congenital erosive and vesicular dermatosis tmpte7i6ely_mondo_relaxed.owl congenital erosive and vesicular dermatosis with reticulated supple scarring|CEVD Orphanet:231573 owl:Class GO:0010975 biolink:NamedThing regulation of neuron projection development Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpte7i6ely_mondo_relaxed.owl regulation of neurite formation|regulation of neurite development|regulation of neurite biosynthesis|regulation of neurite growth owl:Class HGNC:4312 biolink:NamedThing GCLM tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000307 biolink:NamedThing fibroblast of dense regular elastic tissue A fibroblast that is part of the dense regular elastic tissue. tmpte7i6ely_mondo_relaxed.owl FMA:261287 cell owl:Class MONDO:0001473 biolink:NamedThing medulloadrenal hyperfunction tmpte7i6ely_mondo_relaxed.owl ICD9:255.6|SCTID:111565003|UMLS:C0154206|ICD10:E27.5|DOID:12257 owl:Class MONDO:0002463 biolink:NamedThing lacrimal gland carcinoma A carcinoma that arises from epithelial cells of the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl carcinoma of lacrimal gland|carcinoma of the lacrimal gland|lacrimal gland carcinoma DOID:293|UMLS:C1334358|NCIT:C6129 owl:Class MONDO:0009630 biolink:NamedThing microphthalmia, isolated, with coloboma 4 tmpte7i6ely_mondo_relaxed.owl microphthalmia with colobomatous cyst|MCOPCB4|microphthalmia, isolated, with coloboma 4|microphthalmia, isolated, with coloboma type 4 OMIM:251505|UMLS:C1855053|Orphanet:98938|SCTID:715771008 owl:Class MONDO:0009822 biolink:NamedThing otoonychoperoneal syndrome tmpte7i6ely_mondo_relaxed.owl oto-onycho-peroneal syndrome|otoonychoperoneal syndrome SCTID:441944007|GARD:0004170|ICD9:759.89|OMIM:259780|ICD10:Q87.5|MESH:C564912|Orphanet:2793|UMLS:C1850105 https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome owl:Class HGNC:2846 biolink:NamedThing DGCR6 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0072348 biolink:NamedThing sulfur compound transport The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl sulfur-containing compound transport owl:Class MONDO:0011006 biolink:NamedThing hereditary spastic paraplegia 9A tmpte7i6ely_mondo_relaxed.owl autosomal dominant complex spastic paraplegia type 9A|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|autosomal dominant spastic paraplegia 9A|cataracts with motor neuronopathy, short stature, and skeletal abnormalities|spastic paraplegia 9A, autosomal dominant|AD-SPG9A|hereditary spastic paraplegia type 9A|spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|SPG9A|cataracts with motor neuronopathy, short stature and skeletal abnormalities|cataracts motor neuropathy-short stature-skeletal anomalies syndrome ICD10:G11.4|OMIM:601162|Orphanet:447753|Orphanet:100990|MESH:C536868|UMLS:CN237701|DOID:0110824 owl:Class MONDO:0004464 biolink:NamedThing nephrogenic adenoma of the urethra A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. tmpte7i6ely_mondo_relaxed.owl nephrogenic adenoma of urethra|urethra nephrogenic adenoma|urethral nephrogenic adenoma UMLS:C1336889|NCIT:C7416|DOID:8109 owl:Class UBERON:0003489 biolink:NamedThing respiratory system capillary endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011366 biolink:NamedThing cleidobrachialis muscle tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6178 biolink:NamedThing Trematoda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017129 biolink:NamedThing inherited cardiac tumor An instance of heart cancer that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic cardiac tumor|hereditary heart neoplasm|genetic heart tumor UMLS:CN202528|Orphanet:271841 owl:Class MONDO:0003938 biolink:NamedThing bladder colonic type adenocarcinoma tmpte7i6ely_mondo_relaxed.owl bladder colonic type adenocarcinoma|bladder enteric type adenocarcinoma DOID:6594|UMLS:C1511188|NCIT:C39835 owl:Class UBERON:0011220 biolink:NamedThing mastoid process of temporal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015339 biolink:NamedThing adrenomyeloneuropathy An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. tmpte7i6ely_mondo_relaxed.owl AMN|adrenomyeloneuropathy Orphanet:139399|UMLS:C1527231|OMIM:300100|GARD:0010614|ICD10:E71.3|SCTID:65389002 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class CHEBI:33598 biolink:NamedThing carbocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. tmpte7i6ely_mondo_relaxed.owl carbocycle|carbocyclic compound|carbocyclic compounds owl:Class MONDO:0022858 biolink:NamedThing continuous spike-wave during slow sleep syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001513 https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome owl:Class HGNC:45 biolink:NamedThing ABCB4 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35338 biolink:NamedThing amphetamines Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine. tmpte7i6ely_mondo_relaxed.owl amphetamine drug owl:Class MONDO:0007139 biolink:NamedThing Antipyrine metabolism tmpte7i6ely_mondo_relaxed.owl antipyrine metabolism 2022-04-01 UMLS:C1862824|OMIM:107290 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class NCBITaxon:46684 biolink:NamedThing Ascaridia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:46683 biolink:NamedThing Ascaridiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013368 biolink:NamedThing mammary-digital-nail syndrome Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. tmpte7i6ely_mondo_relaxed.owl MDNS|mammary-digital-nail syndrome|onycho-digito-mammary syndrome|MDN syndrome Orphanet:238744|UMLS:C3150946|ICD10:Q87.2|OMIM:613689|SCTID:718679004 owl:Class MONDO:0015191 biolink:NamedThing myopathic intestinal pseudoobstruction tmpte7i6ely_mondo_relaxed.owl ICD10:K59.8|Orphanet:104077 owl:Class MONDO:0002674 biolink:NamedThing stricture or kinking of ureter tmpte7i6ely_mondo_relaxed.owl DOID:3508|ICD9:593.3 owl:Class MONDO:0009778 biolink:NamedThing olivopontocerebellar atrophy II, autosomal recessive tmpte7i6ely_mondo_relaxed.owl olivopontocerebellar atrophy II, autosomal recessive|OPCA II, Fickler-Winkler type OMIM:258300|UMLS:C1850319|MESH:C564930 owl:Class HGNC:12744 biolink:NamedThing MLXIPL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005483 biolink:NamedThing thymus lobe tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0036378 biolink:NamedThing calcitriol biosynthetic process from calciol Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol. tmpte7i6ely_mondo_relaxed.owl 1alpha,25(OH)2D3 biosynthesis|1alpha,25-dihydroxycholecalciferol biosynthesis|1alpha,25-dihydroxyvitamin D3 biosynthesis|calcitriol biosynthesis from calciol|vitamin D3 activation owl:Class GO:0042368 biolink:NamedThing vitamin D biosynthetic process The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpte7i6ely_mondo_relaxed.owl calciferol biosynthesis|ergocalciferol biosynthetic process|calciferol biosynthetic process|vitamin D synthesis|vitamin D anabolism|vitamin D biosynthesis|vitamin D formation|cholecalciferol biosynthesis|ergocalciferol biosynthesis|cholecalciferol biosynthetic process owl:Class MONDO:0042982 biolink:NamedThing GATA2 deficiency with susceptibility to MDS/AML A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]). tmpte7i6ely_mondo_relaxed.owl GATA2 deficiency with susceptibility to MDS/AML|GATA2 deficiency|GATA2 deficiency/MonoMac syndrome NCIT:C126349|GARD:0013373|UMLS:C3280030 The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity owl:Class MONDO:0042487 biolink:NamedThing uterine cervix carcinoma in situ Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 tmpte7i6ely_mondo_relaxed.owl cervix Severe dysplasia aJCC v6|FIGO stage 0 carcinoma of the cervix|CIN III|FIGO stage 0 carcinoma of cervix uteri|stage 0 uterine cervix carcinoma|cervical intraepithelial neoplasia grade 3 aJCC v6|uterine cervix carcinoma in situ aJCC v6|cervical Severe dysplasia aJCC v6|squamous intraepithelial neoplasia, grade III|cervical cancer stage 0 aJCC v6|FIGO stage 0 cervical carcinoma|severe dysplasia of the cervix uteri aJCC v6|CIN grade 3 aJCC v6|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|severe dysplasia of the cervix aJCC v6|carcinoma of cervix stage 0|severe dysplasia of uterine cervix aJCC v6|CIN III - severe dyskaryosis|cervical carcinoma in situ aJCC v6|grade 3 cervical intraepithelial neoplasia aJCC v6|cervix Ca in situ|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|FIGO stage 0 cervix uteri carcinoma|cervical intraepithelial neoplasia grade III with severe dysplasia|severe dysplasia of the uterine cervix aJCC v6|uterine cervix Severe dysplasia aJCC v6|carcinoma in situ of the uterine cervix aJCC v6|carcinoma in situ of uterine cervix aJCC v6|uterine cervix intraepithelial neoplasia grade 3 aJCC v6|cervix uteri carcinoma in situ|severe dysplasia of cervix aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|severe dysplasia of cervix uteri aJCC v6|FIGO stage 0 carcinoma of the cervix uteri|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6|CIN 3 aJCC v6|FIGO stage 0 cervix carcinoma|carcinoma in situ of cervix aJCC v6|carcinoma in situ of cervix uteri aJCC v6|carcinoma in situ of the cervix uteri aJCC v6|stage 0 cervical cancer|cervix uteri Severe dysplasia aJCC v6|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|severe dysplasia of cervix|intraepithelial neoplasia of the cervix grade 3 aJCC v6|stage 0 cervical cancer aJCC v6|intraepithelial neoplasia of cervix grade 3 aJCC v6|CIN III - carcinoma in situ of cervix|carcinoma in situ of uterine cervix|carcinoma in situ of the cervix aJCC v6|severe cervical dysplasia aJCC v6|FIGO stage 0 carcinoma of cervix|cervix carcinoma in situ aJCC v6|FIGO stage 0 carcinoma of the uterine cervix|FIGO stage 0 uterine cervix carcinoma|carcinoma in situ of cervix|cervix uteri carcinoma in situ aJCC v6|FIGO stage 0 carcinoma of uterine cervix|cervix intraepithelial neoplasia grade 3 aJCC v6 ICD9:233.1|MESH:D018290|SCTID:254889004|ICD10:D06.9|UMLS:C0851140|NCIT:C4000|DOID:8991|ICD10CM:D06|ICD10:D06|ICD10CM:D06.9 owl:Class CHEBI:25805 biolink:NamedThing oxygen atom tmpte7i6ely_mondo_relaxed.owl 8O|oxigeno|oxygen|O|oxygene|Sauerstoff owl:Class MONDO:0027068 biolink:NamedThing mitochondrial complex 1 deficiency, mitochondrial type 1 Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex I deficiency, mitochondrial type 1|MC1DM1 OMIM:500014 owl:Class MONDO:0100134 biolink:NamedThing mitochondrial complex I deficiency, mitochondrial type tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003617 biolink:NamedThing trachea elastic tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009570 biolink:NamedThing spinal cord sulcus limitans tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017323 biolink:NamedThing hypocalcemic rickets Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). tmpte7i6ely_mondo_relaxed.owl calcium deficiency rickets|Calciopenic rickets UMLS:C4302195|Orphanet:289103|NCIT:C131421|SCTID:722947004|UMLS:C4329608 owl:Class MONDO:0014382 biolink:NamedThing tall stature-intellectual disability-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl Tatton-Brown-Rahman overgrowth syndrome|tall stature-intellectual disability-facial dysmorphism syndrome|TBRS|DNMT3A-related overgrowth syndrome|TATTON-BROWN-Rahman syndrome ICD10:Q87.3|Orphanet:404443|OMIM:615879|SCTID:768843007|UMLS:C4014545 owl:Class MONDO:0005652 biolink:NamedThing Arterivirus infectious disease Infections caused by viruses of the family arteriviridae. tmpte7i6ely_mondo_relaxed.owl Arterivirus caused disease or disorder|Arterivirus disease or disorder UMLS:C0206604|EFO:0007152|MESH:D018174 owl:Class MONDO:0009525 biolink:NamedThing split hand-foot malformation 3 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. tmpte7i6ely_mondo_relaxed.owl limb deficiencies distal with micrognathia|split-hand/foot malformation 3|split-hand/foot malformation type 3|SHFM3|split hand-foot malformation type 3|chromosome 10Q24 Duplication syndrome|Buttiens Fryns syndrome|split hand-foot malformation 3|chromosome 10q24 duplication syndrome|Shsf3|10q24 microduplication syndrome|Buttiens-Fryns syndrome|distal limb deficiencies with micrognathia|distal limb deficiencies-micrognathia syndrome|limb deficiencies, distal, with micrognathia Orphanet:2440|UMLS:C0265554|ICD10:Q92.3|MESH:C565437|OMIM:246560|NCIT:C75121|SCTID:722429003|GARD:0003252|ICD10:Q71.6|Orphanet:1307|DOID:0090025 https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia owl:Class UBERON:0010562 biolink:NamedThing pedal digit 1 mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16997 biolink:NamedThing MLLT11 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6181 biolink:NamedThing Schistosoma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013929 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 98 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene. tmpte7i6ely_mondo_relaxed.owl DFNB98|autosomal recessive deafness 98|autosomal recessive nonsyndromic deafness 98|TSPEAR autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR|deafness, autosomal recessive type 98|deafness, autosomal recessive 98|autosomal recessive nonsyndromic deafness type 98 DOID:0110540|ICD10:H90.3|UMLS:C3553932|OMIM:614861 owl:Class MONDO:0016964 biolink:NamedThing partial duplication of the long arm of chromosome 14 tmpte7i6ely_mondo_relaxed.owl 14q trisomy|chromosome 14q duplication|partial duplication of chromosome 14q|Duplication 14q|14q duplication|partial duplication of the long arm of chromosome type 14|partial trisomy 14q|trisomy 14q|partial trisomy of the long arm of chromosome 14|partial trisomy of chromosome 14q GARD:0005311|Orphanet:262941 owl:Class CL:0002086 biolink:NamedThing specialized cardiac myocyte A cardiac myocyte that is an excitable cells in the myocardium, specifically in the conducting system of heart. tmpte7i6ely_mondo_relaxed.owl FMA:67968 tmeehan 2010-07-21T01:33:38Z cell owl:Class MONDO:0035370 biolink:NamedThing ALPI-related inflammatory bowel disease Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene. tmpte7i6ely_mondo_relaxed.owl 2022-12-01 Orphanet:597887 Reason: out of scope. Term to consider: MONDO:0005265 'inflammatory bowel disease'. https://github.com/monarch-initiative/mondo/issues/3543 owl:Class MONDO:0010448 biolink:NamedThing moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl chromosome Xq28 deletion syndrome, 3.4-Kb|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism|syndromic Moyamoya disease|MYMY4 OMIM:300845|Orphanet:280679|UMLS:C3151857 owl:Class MONDO:0019777 biolink:NamedThing Carpenter-Waziri syndrome Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpte7i6ely_mondo_relaxed.owl OMIM:309580|UMLS:CN206718|Orphanet:93973 owl:Class MONDO:0020472 biolink:NamedThing Turner syndrome due to structural X chromosome anomalies tmpte7i6ely_mondo_relaxed.owl Orphanet:99413|ICD10:Q96.2|ICD10:Q96.1|UMLS:CN207336 owl:Class GO:0071742 biolink:NamedThing IgE immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015170 biolink:NamedThing congenital sodium diarrhea Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. tmpte7i6ely_mondo_relaxed.owl Na-H exchange deficiency OMIM:616868|OMIM:270420|SCTID:18805001|Orphanet:103908|ICD10:P78.3 owl:Class HGNC:24265 biolink:NamedThing PTRH2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003361 biolink:NamedThing epithelium of sublingual gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014002 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 5 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, nocturnal frontal lobe, 5|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|autosomal dominant nocturnal frontal lobe epilepsy type 5|epilepsy, nocturnal frontal lobe, type 5|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy|ENFL5|nocturnal frontal lobe epilepsy 5 DOID:0060686|UMLS:C3554306|OMIM:615005|Orphanet:98784 owl:Class MONDO:0008256 biolink:NamedThing platelet membrane fluidity tmpte7i6ely_mondo_relaxed.owl PMF|platelet membrane fluidity OMIM:173560 owl:Class MONDO:0010965 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 6 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 6|neurosensory nonsyndromic recessive deafness 6|DFNB6|deafness, autosomal recessive type 6|autosomal recessive nonsyndromic deafness 6|autosomal recessive nonsyndromic deafness type 6|autosomal recessive deafness 6|TMIE autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TMIE ICD10:H90.3|UMLS:C1832992|MESH:C563418|DOID:0110512|OMIM:600971 owl:Class HP:0002977 biolink:NamedThing Aplasia/Hypoplasia involving the central nervous system Absence or underdevelopment of tissue in the central nervous system. tmpte7i6ely_mondo_relaxed.owl Aplasia/Hypoplasia involving the CNS|Absent/underdeveloped central nervous system tissue UMLS:C4025665 peter 2008-03-31T05:13:00Z HP:0001323 human_phenotype owl:Class GO:0042423 biolink:NamedThing catecholamine biosynthetic process The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpte7i6ely_mondo_relaxed.owl catecholamine synthesis|catecholamine biosynthesis|catecholamine anabolism|catecholamine formation owl:Class GO:0042401 biolink:NamedThing cellular biogenic amine biosynthetic process The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpte7i6ely_mondo_relaxed.owl biogenic amine biosynthesis|biogenic amine anabolism|biogenic amine formation|biogenic amine synthesis owl:Class CHEBI:33327 biolink:NamedThing silicon oxide tmpte7i6ely_mondo_relaxed.owl silicon oxides|oxides of silicon owl:Class HGNC:30939 biolink:NamedThing ZFHX4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007762 biolink:NamedThing hyperlipoproteinemia type V A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. tmpte7i6ely_mondo_relaxed.owl hyperlipemia combined fat and carbohydrate-induced|hyperchylomicronemia late onset|HLP type 5|mixed hyperlipemia|hyperlipemia, mixed|hyperlipemia, combined fat and carbohydrate-induced|hyperchylomicronemia, late-onset|hyperlipidemia, type 5|type V hyperlipoproteinemia|hyperlipoproteinemia, type V|hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|Fredrickson type V lipaemia|hyperlipemia mixed|hyperlipidemia type V|hyperlipoproteinemia, type 5|hyperlipoproteinemia type 5|major hyperlipidemia|familial hyperlipoproteinemia type V|familial type 5 hyperlipoproteinemia NCIT:C35645|GARD:0006704|ICD10:E78.3|SCTID:34349009|MedDRA:10060755|DOID:1171|Orphanet:70470|OMIM:144650|MESH:D006954 https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 owl:Class MONDO:0006000 biolink:NamedThing tuberculous peritonitis A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. tmpte7i6ely_mondo_relaxed.owl Mycobacterium tuberculosis peritonitis|Mycobacterium tuberculosis caused peritonitis DOID:9801|UMLS:C0041325|SCTID:44572005|ICD9:014.0|ICD10:A18.31|ICD9:014.00|ICD9:014.01|MESH:D014395|EFO:0007529 owl:Class HGNC:21732 biolink:NamedThing ANTXR2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12692 biolink:NamedThing VIM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012503 biolink:NamedThing thiopurine S-methyltransferase deficiency An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity. tmpte7i6ely_mondo_relaxed.owl thiopurine S methyltranferase deficiency|THPM1|thiopurine methyltransferase deficiency|thiopurines, poor metabolism of, 1|Thiopurines, poor metabolism of, 1|TPMT deficiency|6-mercaptopurine sensitivity|inborn error of thiopurine S-methyltransferase activity|poor metabolism of thiopurines-1|rare inborn error of thiopurine S-methyltransferase activity|thiopurine S-methyltransferase deficiency|inborn thiopurine S-methyltransferase activity disorder|Thiopurines, poor metabolism of DOID:0080172|SCTID:238012003|NCIT:C4389|Orphanet:3315|OMIM:610460|GARD:0005173|MESH:C536512 owl:Class MONDO:0005166 biolink:NamedThing osteoma A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. tmpte7i6ely_mondo_relaxed.owl osteoma, benign|osteoma (disease)|osteoma osteoma (disease) HP:0100246|UMLS:C0029440|SCTID:302858007|EFO:0002423|NCIT:C3296|ICDO:9180/0|MESH:D010016 owl:Class MONDO:0014132 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 3 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene. tmpte7i6ely_mondo_relaxed.owl IBA57 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome type 3|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57|multiple mitochondrial dysfunctions syndrome 3|MMDS3|IBA57 deficiency Orphanet:289573|UMLS:C3809165|OMIM:615330|Orphanet:363424|ICD10:G31.8|DOID:0080135 owl:Class MONDO:0007461 biolink:NamedThing short stature-valvular heart disease-characteristic facies syndrome Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl disproportionate short stature with ptosis and valvular heart lesions Orphanet:2868|ICD10:Q87.1|UMLS:C1852073|OMIM:126190|MESH:C565094 owl:Class MONDO:0013722 biolink:NamedThing hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|POLR3B leukodystrophy|HLD8|leukodystrophy caused by mutation in POLR3B Orphanet:88637|DOID:0060797|OMIM:614381|ICD10:G11.1|UMLS:C3280644 owl:Class MONDO:0006179 biolink:NamedThing desmoplastic ameloblastoma An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands. tmpte7i6ely_mondo_relaxed.owl desmoplastic ameloblastoma EFO:1000215|NCIT:C39758|UMLS:C0457533 owl:Class MONDO:0017795 biolink:NamedThing ameloblastoma The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize. tmpte7i6ely_mondo_relaxed.owl adamantinoma|ameloblastoma|aot|Adenoameloblastoma|ameloblastoma of jaw|adenomatoid odontogenic tumor SCTID:285311001|NCIT:C4313|ICDO:9310/0|Orphanet:314419|DOID:0050894|ICD10:C41.1|MESH:D000564|UMLS:C0563212|GARD:0005747|MedDRA:10066796|UMLS:C0002448 owl:Class CHEBI:27171 biolink:NamedThing organic heterobicyclic compound tmpte7i6ely_mondo_relaxed.owl organic heterobicyclic compounds|heterobicyclic compounds owl:Class GO:0001990 biolink:NamedThing regulation of systemic arterial blood pressure by hormone The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. tmpte7i6ely_mondo_relaxed.owl hormonal regulation of blood pressure|blood pressure regulation by hormone|hormonal control of blood pressure owl:Class HP:0033127 biolink:NamedThing Abnormality of the musculoskeletal system An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. tmpte7i6ely_mondo_relaxed.owl 2020-09-05 13:35:03+00:00 peter human_phenotype owl:Class HGNC:16262 biolink:NamedThing YAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020435 biolink:NamedThing atrial septal defect, coronary sinus type tmpte7i6ely_mondo_relaxed.owl coronary sinus atrial septal defects|unroofed coronary sinus|ASD coronary sinus|atrial septal defect coronary sinus|ASD, coronary sinus type SCTID:40272001|ICD10:Q21.1|ICD9:746.89|Orphanet:99104|GARD:0010697 https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus owl:Class MONDO:0000214 biolink:NamedThing hypermanganesemia with dystonia tmpte7i6ely_mondo_relaxed.owl DOID:0080535|OMIMPS:613280|SCTID:768553002 owl:Class MONDO:0008800 biolink:NamedThing microphthalmia with limb anomalies Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. tmpte7i6ely_mondo_relaxed.owl OAS|MLA|anophthalmia Waardenburg syndrome|microphthalmia with limb anomalies|ophthalmoacromelic syndrome|anophthalmos with limb anomalies|anophthalmos-syndactyly|anophthalmia-syndactyly syndrome|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome|anophthalmia-syndactyly OMIM:206920|DOID:0060861|MESH:C537769|ICD10:Q87.2|GARD:0000722|SCTID:703403003|ICD9:755.8|Orphanet:1106 owl:Class GO:0060589 biolink:NamedThing nucleoside-triphosphatase regulator activity Binds to and modulates the activity of an NTPase. tmpte7i6ely_mondo_relaxed.owl NTPase regulator activity owl:Class HGNC:11653 biolink:NamedThing TCN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030031 biolink:NamedThing lissencephaly 10 tmpte7i6ely_mondo_relaxed.owl LISSENCEPHALY 10|LIS10|lissencephaly 10 OMIM:618873 owl:Class MONDO:0011804 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. tmpte7i6ely_mondo_relaxed.owl caspase 8 deficiency syndrome|ALPS with recurrent viral infections|caspase eight deficiency state|caspase 8 deficiency|CEDS|CASP8 autoimmune lymphoproliferative syndrome|ALPS2B|caspase-8 deficiency|autoimmune lymphoproliferative syndrome with recurrent viral infections|autoimmune lymphoproliferative syndrome type IIB|autoimmune lymphoproliferative syndrome, type 2B|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|Ceds OMIM:607271|GARD:0009796|ICD10:D47.9|DOID:0110116|SCTID:722290008|Orphanet:275517 owl:Class GO:0032055 biolink:NamedThing negative regulation of translation in response to stress Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating the organism is under stress. tmpte7i6ely_mondo_relaxed.owl inhibition of translation in response to stress|downregulation of translation in response to stress|down-regulation of translation in response to stress|down regulation of translation in response to stress owl:Class MONDO:0001015 biolink:NamedThing eosinophilic meningitis Meningitis in which eosinophils predominate in the cerebrospinal fluid. tmpte7i6ely_mondo_relaxed.owl NCIT:C128374|SCTID:25671008|UMLS:C0154652|DOID:10361|ICD9:322.1 owl:Class MONDO:0001007 biolink:NamedThing chronic meningitis Chronic form of meningitis (disease). tmpte7i6ely_mondo_relaxed.owl meningitis (disease), chronic|chronic meningitis (disease) ICD10:G03.1|DOID:10341|UMLS:C0154653|ICD9:322.2|SCTID:21664006 owl:Class UBERON:0003384 biolink:NamedThing skeletal muscle tissue of pharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004604 biolink:NamedThing Hodgkin's lymphoma, lymphocytic-histiocytic predominance A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) tmpte7i6ely_mondo_relaxed.owl lymphocyte rich classical Hodgkin lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte rich Hodgkin's lymphoma|Hodgkin lymphoma, lymphocytic-histiocytic predominance|lymphocyte-rich Classic Hodgkin lymphoma|Hodgkin's disease, lymphocyte predominance [obs]|Hodgkin's disease, lymphocyte predominance|lymphocyte rich classical Hodgkin's disease|lymphocyte rich Hodgkin lymphoma|LRCHL|Hodgkin lymphoma, lymphocyte-rich|classic Hodgkin lymphoma, lymphocyte-rich type|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte-rich classical Hodgkin's lymphoma|lymphocyte rich Hodgkin's disease ICD10:C81.4|MESH:D006689|Orphanet:98845|ICD9:201.4|DOID:8543|ONCOTREE:LRCHL|NCIT:C6913|SCTID:118607005|ICDO:9651/3|MedDRA:10020231 owl:Class GO:0006139 biolink:NamedThing nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpte7i6ely_mondo_relaxed.owl cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleobase, nucleoside and nucleotide metabolic process|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism owl:Class MONDO:0008136 biolink:NamedThing isolated optic nerve hypoplasia tmpte7i6ely_mondo_relaxed.owl optic nerve hypoplasia, bilateral|isolated optic nerve hypoplasia/aplasia|optic nerve aplasia, bilateral|familial bilateral optic nerve hypoplasia|optic nerve hypoplasia, familial bilateral UMLS:C4510723|GARD:0008419|ICD10:H47.0|UMLS:C1833797|DOID:0111531|SCTID:724999003|Orphanet:137902|OMIM:165550 owl:Class MONDO:0011976 biolink:NamedThing lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones|lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones|Rajab-Spranger syndrome SCTID:721973006|MESH:C564283|Orphanet:50811|OMIM:608154|ICD10:Q78.8 owl:Class MONDO:0020371 biolink:NamedThing essential iris atrophy Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease. tmpte7i6ely_mondo_relaxed.owl SCTID:25913001|ICD9:364.51|UMLS:C0271111|ICD10:H21.2|UMLS:CN207238|Orphanet:98981 owl:Class IAO:8000012 biolink:NamedThing species subset ontology module A subset ontology that is crafted to either include or exclude a taxonomic grouping of species. tmpte7i6ely_mondo_relaxed.owl taxon subset species subset ontology module owl:Class MONDO:0006779 biolink:NamedThing heart aneurysm A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture. tmpte7i6ely_mondo_relaxed.owl cardiac aneurysm EFO:1000959|DOID:9768|ICD9:414.10|SCTID:65340007|ICD9:414.19|MESH:D006322|UMLS:C0018789|ICD10:I25.3|MedDRA:10002350 owl:Class MONDO:0022746 biolink:NamedThing chromosome 13p duplication tmpte7i6ely_mondo_relaxed.owl Duplication 13p|chromosome 13p, trisomy|trisomy 13p UMLS:CN037021|MESH:C535450 owl:Class MONDO:0007769 biolink:NamedThing hyperpigmentation of eyelid Over-production of pigment in the eyelid. tmpte7i6ely_mondo_relaxed.owl dyspigmentation of eyelid|hyperpigmentation of eyelids UMLS:C0155211|ICD10:H02.71|MESH:C562400|EFO:1000711|OMIM:145100|ICD9:374.52|SCTID:41115008|DOID:10122 owl:Class MONDO:0009294 biolink:NamedThing glycogen storage disease VI Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. tmpte7i6ely_mondo_relaxed.owl hepatic glycogen phosphorylase deficiency|glycogen storage disease VI|GSD type VI|glycogenosis type VI|glycogen storage disease caused by mutation in PYGL|hers' disease|glycogen storage disease 6|PYGL glycogen storage disease|liver glycogen phosphorylase deficiency|glycogen storage disease type VI|glycogen storage disease due to liver glycogen phosphorylase deficiency|GSD due to liver glycogen phosphorylase deficiency|GSD 6|hepatic phosphorylase deficiency|glycogenosis due to liver glycogen phosphorylase deficiency|hers disease|phosphorylase deficiency glycogen-storage disease of liver|glycogen storage disease type 6|GSD6|GSD type 6|glycogenosis type 6|hepatophosphorylase deficiency glycogenosis UMLS:C0017925|OMIM:232700|ICD10:E74.0|MESH:D006013|MedDRA:10053240|GARD:0006529|SCTID:29291001|Orphanet:369|DOID:2754|NCIT:C126875|ICD10:E74.09 owl:Class CHEBI:36047 biolink:NamedThing antibacterial drug A drug used to treat or prevent bacterial infections. tmpte7i6ely_mondo_relaxed.owl antibacterial drugs owl:Class MONDO:0100392 biolink:NamedThing acute myeloid leukemia, t(11;17) Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.) tmpte7i6ely_mondo_relaxed.owl AML, t(11;17) NCIT:C175582 owl:Class MONDO:0014185 biolink:NamedThing chromosome 3q13.31 deletion syndrome 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. tmpte7i6ely_mondo_relaxed.owl chromosome 3q13.31 deletion syndrome|Del(3)(q13)|3q13 microdeletion syndrome|monosomy 3q13 SCTID:726705007|Orphanet:1621|UMLS:CN036884|DOID:0060418|UMLS:C3809490|OMIM:615433|ICD10:Q93.5|MESH:C536808 owl:Class MONDO:0002422 biolink:NamedThing adamantinoma A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton. tmpte7i6ely_mondo_relaxed.owl Extragnathic adamantinoma|adamantinoma of long bones|adamantinoma, malignant|adamantinoma of long bones (morphologic abnormality)|long bone adamantinoma|adamantinoma|adamantinoma of long bone DOID:2775|UMLS:C0334556|ICDO:9261/3|ICD9:170.9|SCTID:307609003|NCIT:C7644|UMLS:C1367554|ONCOTREE:ADMA|OMIM:102660|DOID:2776|Orphanet:55881|ICD10:C40.2|MESH:C562741|MESH:D050398 owl:Class GO:0045121 biolink:NamedThing membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. tmpte7i6ely_mondo_relaxed.owl GEM domain|glycolipid-enriched membrane domain|lipid raft owl:Class GO:0098857 biolink:NamedThing membrane microdomain A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:69773 biolink:NamedThing Penicillium glabrum tmpte7i6ely_mondo_relaxed.owl Penicillium frequentans|Citromyces glaber|Citromyces glaber Wehmer, 1911 GC_ID:1 NCBITaxon:1195892 ncbi_taxonomy owl:Class MONDO:0016346 biolink:NamedThing hydrocephalus-obesity-hypogonadism syndrome This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. tmpte7i6ely_mondo_relaxed.owl Sengers-Hamel-Otten syndrome|hydrocephalus obesity hypogonadism|congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism UMLS:CN201182|SCTID:721231007|Orphanet:2183|GARD:0002775 owl:Class HP:0002087 biolink:NamedThing Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. tmpte7i6ely_mondo_relaxed.owl Abnormality of the upper respiratory tract|Upper respiratory tract issues UMLS:C4025727 human_phenotype owl:Class MONDO:0008938 biolink:NamedThing early-onset cerebellar ataxia with retained tendon reflexes Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, early-onset, with retained tendon reflexes|cerebellar ataxia early onset with retained tendon reflex|ataxia, harding type|EOCARR|EOCA|Harding ataxia ICD9:334.3|ICD10:G11.1|OMIM:212895|Orphanet:1177|UMLS:C0393520|MESH:C535633|GARD:0002600|SCTID:230228004 owl:Class NCBITaxon:8457 biolink:NamedThing Sauropsida tmpte7i6ely_mondo_relaxed.owl sauropsids GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016875 biolink:NamedThing partial deletion of chromosome 10 tmpte7i6ely_mondo_relaxed.owl partial monosomy of chromosome 10 ICD10:Q93.5|Orphanet:261811 owl:Class HP:0001022 biolink:NamedThing Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). tmpte7i6ely_mondo_relaxed.owl Achromasia|Albinism UMLS:C0333913|SNOMEDCT_US:18064000|UMLS:C0001916|MSH:D000417|SNOMEDCT_US:15890002 human_phenotype owl:Class HP:0007513 biolink:NamedThing Generalized hypopigmentation tmpte7i6ely_mondo_relaxed.owl Pale pigmentation|Fair skin|Generalised hypopigmentation UMLS:C1849923 HP:0000984|HP:0007419 human_phenotype owl:Class NCBITaxon:41197 biolink:NamedThing Heteroneura tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:37583 ncbi_taxonomy owl:Class HP:0012647 biolink:NamedThing Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpte7i6ely_mondo_relaxed.owl Abnormal inflammatory response UMLS:C4022805 peter 2014-02-01T01:25:42Z human_phenotype owl:Class MONDO:0009959 biolink:NamedThing peroxisome biogenesis disorder type 3B A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 3B|infantile Refsum disease|infantile phytanic acid storage disease|peroxisome biogenesis disorder type 3B|PBD3B MESH:D052919|DOID:0050444|UMLS:C0282527|Orphanet:772|Orphanet:44|OMIM:266510|ICD10:G60.1 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100266 biolink:NamedThing peroxisome biogenesis disorder due to PEX12 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene. tmpte7i6ely_mondo_relaxed.owl PEX12 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX12 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0006249 biolink:NamedThing hyperplastic polyp A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000). tmpte7i6ely_mondo_relaxed.owl metaplastic polyp|MP|HP NCIT:C4083|UMLS:C0333983|EFO:1000299 owl:Class MONDO:0019622 biolink:NamedThing non-specific interstitial pneumonia Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. tmpte7i6ely_mondo_relaxed.owl nonspecific interstitial pneumonia|non-specific idiopathic interstitial pneumonia|NSIP NCIT:C35717|SCTID:129452008|Orphanet:91364|DOID:2801|ICD10:J84.8|UMLS:C1290344|ICD9:516.8 owl:Class MONDO:0002796 biolink:NamedThing melanotic medulloblastoma A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course. tmpte7i6ely_mondo_relaxed.owl medulloblastoma, melanotic (morphologic abnormality)|MMBL|melanocytic medulloblastoma|melanotic medulloblastoma|medulloblastoma with melanotic differentiation|medulloblastoma, melanotic NCIT:C9497|ONCOTREE:MMBL|UMLS:C1275668|DOID:3868|MESH:D008527 owl:Class MONDO:0025487 biolink:NamedThing murine acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas. tmpte7i6ely_mondo_relaxed.owl murine acquired immuno-deficiency syndrome|AIDS, murine|murine AIDSs|murine acquired immuno deficiency syndrome|MAIDS|murine AIDS|murine acquired immune deficiency syndrome MESH:D016183 owl:Class MONDO:0024981 biolink:NamedThing rodent disease Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). tmpte7i6ely_mondo_relaxed.owl diseases, Rodent|disease, Rodent|rodent disease UMLS:C0035801|MESH:D012376 owl:Class MONDO:0019979 biolink:NamedThing renal hypoplasia, unilateral Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. tmpte7i6ely_mondo_relaxed.owl ICD10:Q60.3|Orphanet:97361 owl:Class NCBITaxon:236781 biolink:NamedThing Tineinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:11592 biolink:NamedThing TBX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010951 biolink:NamedThing dilated cardiomyopathy 1B A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|dilated cardiomyopathy type 1B|cardiomyopathy, dilated, 1B UMLS:C0340427|OMIM:600884|DOID:0110443|ICD10:I42.0 owl:Class GO:1901700 biolink:NamedThing response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpte7i6ely_mondo_relaxed.owl response to oxygen molecular entity owl:Class MONDO:0005621 biolink:NamedThing vascular brain injury Damage to the blood vessels of the brain tmpte7i6ely_mondo_relaxed.owl injury, Vascular, Brain|Vascular injury, Brain|trauma, Brain Vascular|Brain Vascular injury|Brain Vascular trauma|trauma, cerebrovascular|injury, Vascular Brain|Vascular trauma, Brain|Vascular Traumas, Brain|Vascular Brain injury|Brain injury, Vascular|injury, Brain Vascular|Vascular Brain Injuries EFO:0006791|MESH:D020214 owl:Class MONDO:0013977 biolink:NamedThing combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. tmpte7i6ely_mondo_relaxed.owl COXPD13|combined oxidative phosphorylation deficiency 13|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|PNPT1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 13 OMIM:614932|UMLS:C3554129|Orphanet:319514|SCTID:763110007|DOID:0111467|ICD10:G71.3 owl:Class HGNC:8983 biolink:NamedThing PI4KA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006742 biolink:NamedThing endemic goiter Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption. tmpte7i6ely_mondo_relaxed.owl simple goitre|simple goiter|iodine-deficiency-related endemic goitre NCIT:C35023|MedDRA:10068848|MESH:D006043|ICD10:E01.2|DOID:13198|EFO:1000916|ICD9:240.0|ICD10:E01.0|SCTID:56805008 owl:Class MONDO:0003702 biolink:NamedThing uterus intravascular leiomyomatosis A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma. tmpte7i6ely_mondo_relaxed.owl intravenous leiomyomatosis of the uterus|intravenous leiomyomatosis of uterus|uterine corpus intravenous leiomyomatosis|uterus intravenous leiomyomatosis|intravascular leiomyomatosis of uterus|intravascular leiomyomatosis of the uterus DOID:5915|NCIT:C5356 owl:Class MONDO:0003614 biolink:NamedThing intravenous leiomyomatosis A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins. tmpte7i6ely_mondo_relaxed.owl intravenous leiomyomatosis SCTID:254883003|GARD:0010802|NCIT:C4518|NCIT:C5356|DOID:5729|UMLS:C0346200|ICD9:238.1 https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis owl:Class MONDO:0011259 biolink:NamedThing retinitis pigmentosa 22 A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 22|RP22|retinitis pigmentosa type 22|RP 22 ICD10:H35.5|GARD:0010393|OMIM:602594|Orphanet:791|UMLS:C3887981|DOID:0110400 https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22 owl:Class MONDO:0025385 biolink:NamedThing bluetongue A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet. tmpte7i6ely_mondo_relaxed.owl tongue, blue|blue tongue MESH:D001819|UMLS:C0005866 owl:Class MONDO:0010838 biolink:NamedThing gonadal agenesis A congenital disorder characterized by the complete absence of gonadal tissue. tmpte7i6ely_mondo_relaxed.owl gonadal agenesis NCIT:C27228|OMIM:600171 See https://github.com/obophenotype/human-phenotype-ontology/issues/3571 owl:Class HGNC:1958 biolink:NamedThing CHRNA4 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11676 biolink:NamedThing Human immunodeficiency virus 1 tmpte7i6ely_mondo_relaxed.owl human immunodeficiency virus type 1 HIV1|HIV|human immunodeficiency virus type 1, HIV-1|human immunodeficiency virus type 1 HIV 1|human immunodeficiency virus type-1 HIV-1|human immunodeficiency virus-1 HIV-1|LAV-1|human immunodeficiency virus type I HIV-1|AIDS virus|HIV1|HIV-1|Human immunodeficiency virus type 1|human immunodeficiency virus type 1 HIV-1|human immunodeficiency virus HIV-1|human immunodeficiency virus 1 HIV-1 GC_ID:1 ncbi_taxonomy owl:Class CHEBI:36915 biolink:NamedThing inorganic cation tmpte7i6ely_mondo_relaxed.owl inorganic cations owl:Class MONDO:0000127 biolink:NamedThing geleophysic dysplasia Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). tmpte7i6ely_mondo_relaxed.owl Geleophysic dwarfism|geleophysic dwarfism syndrome OMIM:614185|DOID:0111724|ICD10:Q87.1|SCTID:28557005|ICD9:759.89|OMIMPS:231050|OMIM:231050|Orphanet:2623|MedDRA:10063361|GARD:0002449 owl:Class GO:0043030 biolink:NamedThing regulation of macrophage activation Any process that modulates the frequency or rate of macrophage activation. tmpte7i6ely_mondo_relaxed.owl regulation of macrophage polarization owl:Class MONDO:0010115 biolink:NamedThing thoracic dysplasia-hydrocephalus syndrome tmpte7i6ely_mondo_relaxed.owl thoracic dysplasia-hydrocephalus syndrome|thoracic dysplasia hydrocephalus syndrome OMIM:273730|ICD10:Q87.8|Orphanet:1861|MESH:C564774|UMLS:C1848864|GARD:0005180 https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome owl:Class MONDO:0012917 biolink:NamedThing specific language impairment 4 tmpte7i6ely_mondo_relaxed.owl SLI4|specific language impairment 4 OMIM:612514|UMLS:C2675874|MESH:C567288 owl:Class MONDO:0000724 biolink:NamedThing specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. tmpte7i6ely_mondo_relaxed.owl language impairment (disease) OMIM:606711|UMLS:C0454651|OMIM:612514|OMIM:615432|OMIM:607134|OMIMPS:606711|DOID:0060244|Orphanet:458713|OMIM:606712 owl:Class MONDO:0000355 biolink:NamedThing Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. tmpte7i6ely_mondo_relaxed.owl UCMD|scleroatonic muscular dystrophy|scleroatonic Ullrich disease|Ullrich disease|congenital muscular dystrophy, Ullrich type|Ullrich scleroatonic muscular dystrophy|late onset scleroatonic familial myopathy (subtype) ICD10:G71.2|Orphanet:75840|GARD:0004769|OMIM:254090|MESH:C537521|UMLS:C0410179|DOID:0050558|SCTID:240062007|NCIT:C123438|OMIM:616470|OMIMPS:254090 owl:Class MONDO:0022602 biolink:NamedThing brachydactyly small stature face anomalies tmpte7i6ely_mondo_relaxed.owl GARD:0000974 https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies owl:Class UBERON:0004399 biolink:NamedThing epiphysis of fifth metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23014 biolink:NamedThing carbon oxide tmpte7i6ely_mondo_relaxed.owl carbon oxides|oxides of carbon owl:Class MONDO:0015409 biolink:NamedThing isolated congenital syngnathia Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. tmpte7i6ely_mondo_relaxed.owl isolated congenital maxillomandibular fusion ICD10:Q67.4|SCTID:763317002|Orphanet:141214 owl:Class MONDO:0018673 biolink:NamedThing IgG4-related pachymeningitis Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment. tmpte7i6ely_mondo_relaxed.owl idiopathic hypertrophic cranial pachymeningitis|idiopathic hypertrophic pachymeningitis|idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis Orphanet:449427|UMLS:C4545992|GARD:0013256|ICD10:G03.9|SCTID:762282007 owl:Class HGNC:15766 biolink:NamedThing ADNP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012939 biolink:NamedThing Diamond-Blackfan anemia 8 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene. tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan anemia 8|Diamond-Blackfan Anemia type 8|DBA8|Diamond-Blackfan anemia caused by mutation in RPS7|RPS7 Diamond-Blackfan anemia UMLS:C2675511|OMIM:612563|MESH:C567253 owl:Class MONDO:0006809 biolink:NamedThing intracranial embolism Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases. tmpte7i6ely_mondo_relaxed.owl cerebral embolism|cerebral embolism with cerebral infarction ICD9:434.10|ICD9:434.1|SCTID:75543006|ICD10:I66|DOID:4372|MESH:D020766|EFO:1000991 owl:Class HGNC:26182 biolink:NamedThing COLGALT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013640 biolink:NamedThing familial retinal arterial macroaneurysm tmpte7i6ely_mondo_relaxed.owl retinal arterial macroaneurysm and supravalvular pulmonic stenosis|RAMSVPS|retinal arterial macroaneurysm with supravalvular pulmonic stenosis|Fram GARD:0012779|OMIM:614224|UMLS:C3280205|SCTID:764452004|Orphanet:284247 owl:Class GO:0031503 biolink:NamedThing protein-containing complex localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. tmpte7i6ely_mondo_relaxed.owl establishment and maintenance of protein complex localization|protein complex localisation|protein complex localization owl:Class GO:0051179 biolink:NamedThing localization Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. tmpte7i6ely_mondo_relaxed.owl localisation|establishment and maintenance of cellular component location|single organism localization|establishment and maintenance of substrate location|establishment and maintenance of localization|establishment and maintenance of position|single-organism localization|establishment and maintenance of substance location owl:Class HP:0011452 biolink:NamedThing Functional abnormality of the middle ear An abnormality of the function of the middle ear. tmpte7i6ely_mondo_relaxed.owl Functional abnormality of the middle ear UMLS:C4021846 The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. peter 2012-03-19T09:33:03Z human_phenotype owl:Class NCBITaxon:5863 biolink:NamedThing Piroplasmida tmpte7i6ely_mondo_relaxed.owl Piroplasmids GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6231 biolink:NamedThing Nematoda tmpte7i6ely_mondo_relaxed.owl nematodes|roundworm|roundworms|nematode|Nemata GC_ID:1 ncbi_taxonomy owl:Class HP:0007707 biolink:NamedThing Congenital aphakia Absence of the crystalline lens of the eye as a result of a developmental defect. tmpte7i6ely_mondo_relaxed.owl Lens agenesis UMLS:C1853230|MSH:C537786 human_phenotype owl:Class MONDO:0010080 biolink:NamedThing familial infantile bilateral striatal necrosis The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. tmpte7i6ely_mondo_relaxed.owl striatonigral degeneration, infantile|bilateral striatal Necrosis, infantile|infantile bilateral striatal necrosis|familial bilateral striatal necrosis|hereditary infantile bilateral striatal necrosis|FBSN|familial infantile striatonigral necrosis|SNDI|familial infantile striatonigral degeneration|striatal degeneration, familial|familial IBSN Orphanet:225154|OMIM:500003|OMIM:271930|UMLS:CN201303|ICD10:G23.2|UMLS:C0795996|Orphanet:1576|GARD:0010665 https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis owl:Class HP:0100496 biolink:NamedThing Abnormality of the vitamin B3 metabolism tmpte7i6ely_mondo_relaxed.owl Abnormality of the vitamin B3 metabolism UMLS:C4022040 Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. doelkens 2010-12-17T04:13:00Z human_phenotype owl:Class MONDO:0010988 biolink:NamedThing aplasia cutis-myopia syndrome Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction|aplasia cutis myopia Orphanet:1117|GARD:0000756|OMIM:601075|SCTID:720499004|ICD10:Q84.8|MESH:C563394 https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia owl:Class HGNC:18171 biolink:NamedThing CD244 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009205 biolink:NamedThing purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleoside triphosphate metabolism owl:Class MONDO:0011046 biolink:NamedThing short stature, Brussels type This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl short stature syndrome, Brussels type|Mievis-Verellen-Dumoulin syndrome|familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis Verellen-Dumoulin syndrome GARD:0004838|ICD10:Q87.1|UMLS:C1832439|MESH:C537121|SCTID:719213009|Orphanet:2867|OMIM:601350 owl:Class HGNC:13356 biolink:NamedThing MCOLN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011564 biolink:NamedThing cone-rod dystrophy 8 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 8|CORD8|cone-rod dystrophy 8 OMIM:605549|DOID:0111014|UMLS:C1854180|MESH:C565322 owl:Class MONDO:0000299 biolink:NamedThing thelaziasis A disease caused by infection with Thelazia. tmpte7i6ely_mondo_relaxed.owl Thelazia caused disease or disorder|infection caused by Thelazia|verminous ophthalmia|conjunctival spirurosis|thelaziosis|Thelazia disease or disorder|Thelazia infectious disease|thelaziasis|infection by Thelazia UMLS:C0344058|SCTID:46477004|ICD9:128.8|DOID:0050261 owl:Class MONDO:0018648 biolink:NamedThing Keratocystic odontogenic tumor An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence. tmpte7i6ely_mondo_relaxed.owl odontogenic keratocystoma|odontogenic Keratocyst|KTOC Orphanet:447777|UMLS:C1708604|UMLS:CN237705|SCTID:713277006|ICD10:D16.4|NCIT:C54302 owl:Class NCBITaxon:82105 biolink:NamedThing Cladophialophora tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:12417 biolink:NamedThing TUBG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020473 biolink:NamedThing dappled diaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:99645|ICD9:756.59|ICD10:Q77.3|UMLS:C1300227|SCTID:389262009 owl:Class UBERON:0004994 biolink:NamedThing mucosa of fundus of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1663 biolink:NamedThing CD36 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022934 biolink:NamedThing Davis Lafer syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation unusual facies Davis Lafer type|Lafer Davis syndrome|intellectual disability unusual facies Davis Lafer type UMLS:C2931077|MESH:C535989|GARD:0001674 https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome owl:Class MONDO:0015455 biolink:NamedThing gonococcal conjunctivitis Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. tmpte7i6ely_mondo_relaxed.owl gonococcal ophthalmia neonatorum|conjunctivitis gonococcal SCTID:231858009|NCIT:C116816|ICD10:A54.3+|ICD10:H13.1*|Orphanet:1482|ICD10:A54.31|GARD:0002546 https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis owl:Class OBO:CHR_9606-chr16p13.1 biolink:NamedThing 16p13.1 (Human) tmpte7i6ely_mondo_relaxed.owl 16700000 10400000 hg38 owl:Class MONDO:0040698 biolink:NamedThing subacute bursitis tmpte7i6ely_mondo_relaxed.owl subacute bursitis UMLS:C1290159|SCTID:109298000 owl:Class HGNC:6553 biolink:NamedThing LEP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045040 biolink:NamedThing locational disease characteristic tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012451 biolink:NamedThing esophagitis, eosinophilic, 1 tmpte7i6ely_mondo_relaxed.owl esophagitis, eosinophilic|esophagitis, eosinophilic, 1|EOE1 UMLS:C0341106|OMIM:610247|Orphanet:73247 owl:Class CL:0007009 biolink:NamedThing prechondroblast Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells. tmpte7i6ely_mondo_relaxed.owl haendel 2012-06-27T10:44:01Z cell owl:Class MONDO:0004199 biolink:NamedThing vulvar keratinizing squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls. tmpte7i6ely_mondo_relaxed.owl vulvar keratinizing squamous cell carcinoma NCIT:C40284|UMLS:C2109334|DOID:7363 owl:Class MONDO:0018473 biolink:NamedThing hyperlipoproteinemia type 3 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. tmpte7i6ely_mondo_relaxed.owl carbohydrate induced hyperlipemia|hyperlipemia with Familial Hypercholesterolemic xanthomatosis|remnant disease|hyperlipoproteinemia, type III|remnant removal disease|hyperlipoproteinemia type III|floating-betalipoproteinemia|low density lipoprotein cholesterol level quantitative trait locus 5|coronary artery disease, Severe, Susceptibility to|familial hypercholesterolaemia with hyperlipaemia|familial dysbetalipoproteinemia|familial hypercholesterolemia with hyperlipemia|familial Hyperbeta- and Prebetalipoproteinemia|dyslipidemia type 3|dysbetalipoproteinemia|remnant hyperlipidemia|apolipoprotein E, deficiency or defect of|dysbetalipoproteinemia due to defect in apolipoprotein E-D|HLP type 3|hyperlipidemia type 3|familial hyperlipoproteinemia type 3|Broad-betalipoproteinemia|familial type 3 hyperlipoproteinemia|Broad beta disease DOID:3145|OMIM:617347|NCIT:C34710|Orphanet:412|GARD:0006703|SCTID:398796005|ICD10:E78.2|UMLS:C1862561|UMLS:C0020479|MedDRA:10060751 owl:Class HGNC:12668 biolink:NamedThing VCY tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50427 biolink:NamedThing platelet aggregation inhibitor A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system. tmpte7i6ely_mondo_relaxed.owl platelet aggregation inhibitors owl:Class MONDO:0016383 biolink:NamedThing nephrogenic diabetes insipidus Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. tmpte7i6ely_mondo_relaxed.owl diabetes insipidus nephrogenic type 1|diabetes insipidus nephrogenic|diabetes insipidus nephrogenic X-linked|ADH resistant diabetes insipidus|vasopressin-resistant diabetes insipidus MESH:D018500|DOID:12387|ICD9:588.1|OMIM:304800|OMIM:125800|GARD:0007178|NCIT:C84919|Orphanet:223|MedDRA:10029147|ICD10:N25.1|UMLS:C0162283|SCTID:111395007 owl:Class MONDO:0005203 biolink:NamedThing ischemia reperfusion injury Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. tmpte7i6ely_mondo_relaxed.owl PMID:10685060|MESH:D015427|EFO:0002687 owl:Class MONDO:0030996 biolink:NamedThing bleeding disorder, platelet-type, 24 tmpte7i6ely_mondo_relaxed.owl BDPLT24|bleeding disorder, platelet-type, 24|Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2 OMIM:619271 owl:Class MONDO:0044144 biolink:NamedThing panic disorder with agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. tmpte7i6ely_mondo_relaxed.owl panic disorder with agoraphobia SCTID:35607004|NCIT:C97194 owl:Class UBERON:0010575 biolink:NamedThing manual digit 1 phalanx pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013513 biolink:NamedThing atrial fibrillation, familial, 9 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, type 9|ATFB9|familial atrial fibrillation caused by mutation in KCNJ2|atrial fibrillation, familial, 9|KCNJ2 familial atrial fibrillation Orphanet:334|UMLS:C3151431|OMIM:613980 owl:Class HP:0030347 biolink:NamedThing Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpte7i6ely_mondo_relaxed.owl UMLS:C4072892 human_phenotype owl:Class HP:0033799 biolink:NamedThing Abnormal circulating sex hormone concentration Any deviation from the normal concentration of a sex hormone in the blood circulation tmpte7i6ely_mondo_relaxed.owl Abnormal circulating gonadal steroid concentration|Abnormal circulating gonadocorticoid concentration|Abnormal circulating sex steroid concentration 2021-05-09 11:33:30+00:00 Sex hormones are steroid hormones that include the androgens, estrogens, and progestogens. peter human_phenotype owl:Class MONDO:0018987 biolink:NamedThing granulomatous mastitis A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives. tmpte7i6ely_mondo_relaxed.owl granulomatous lobular mastitis|idiopathic granulomatous mastitis|idiopathic granulomatous lobular mastitis MESH:D058890|UMLS:C0405469|GARD:0013119|ICD10:N61|SCTID:237444008|Orphanet:64722 owl:Class GO:0001811 biolink:NamedThing negative regulation of type I hypersensitivity Any process that stops, prevents, or reduces the rate of type I hypersensitivity, a type of inflammatory response. tmpte7i6ely_mondo_relaxed.owl inhibition of type I hypersensitivity|downregulation of type I hypersensitivity|down regulation of type I hypersensitivity|down-regulation of type I hypersensitivity owl:Class UBERON:0018120 biolink:NamedThing right renal medulla interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002812 biolink:NamedThing infectious otitis interna Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology. tmpte7i6ely_mondo_relaxed.owl inner Ear infection|infectious labyrinthitis|infectious otitis interna|inner ear infection|internal Ear infection NCIT:C27339|UMLS:C1168225 owl:Class HP:0100774 biolink:NamedThing Hyperostosis Excessive growth or abnormal thickening of bone tissue. tmpte7i6ely_mondo_relaxed.owl Bone overgrowth|Bone Hypertrophy SNOMEDCT_US:203514008|MSH:D015576|UMLS:C0020492|SNOMEDCT_US:13814009 Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). doelkens 2011-06-07T05:17:19Z human_phenotype owl:Class MONDO:0012664 biolink:NamedThing spastic ataxia 3 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. tmpte7i6ely_mondo_relaxed.owl ARSAL|autosomal recessive spastic ataxia caused by mutation in MARS2|SPAX3|autosomal recessive spastic ataxia with leukoencephalopathy|MARS2 autosomal recessive spastic ataxia|autosomal recessive spastic ataxia type 3|spastic ataxia type 3|spastic ataxia 3, autosomal recessive ICD10:G11.4|Orphanet:314603|DOID:0050942|MESH:C566956|OMIM:611390|UMLS:CN230089|UMLS:C1969645 owl:Class GO:0048261 biolink:NamedThing negative regulation of receptor-mediated endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpte7i6ely_mondo_relaxed.owl downregulation of receptor mediated endocytosis|inhibition of receptor mediated endocytosis|down regulation of receptor mediated endocytosis|down-regulation of receptor mediated endocytosis|negative regulation of receptor mediated endocytosis owl:Class PATO:0002301 biolink:NamedThing decreased quality A quality that has a value that is decreased compared to normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000069 biolink:NamedThing deviation (from_normal) A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000463 biolink:NamedThing positive regulation of excitatory postsynaptic potential Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpte7i6ely_mondo_relaxed.owl positive regulation of excitatory post-synaptic membrane potential|positive regulation of EPSP owl:Class MONDO:0022953 biolink:NamedThing delta-1-pyrroline-5-carboxylate dehydrogenase deficiency A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity. tmpte7i6ely_mondo_relaxed.owl 1-pyrroline-5-carboxylate dehydrogenase activity disease|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity GARD:0001798 https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency owl:Class MONDO:0004709 biolink:NamedThing occipital lobe neoplasm A neoplasm involving a occipital lobe. tmpte7i6ely_mondo_relaxed.owl occipital lobe neoplasm (disease)|occipital lobe tumor|tumor of occipital lobe|neoplasm of occipital lobe|occipital lobe neoplasm|tumor of the occipital lobe|neoplasm of the occipital lobe|malignant neoplasm of occipital lobe UMLS:C0153638|UMLS:C1263889|DOID:910|NCIT:C5574|ICD10:C71.4|ICD9:191.4|SCTID:126957005 owl:Class MONDO:0002880 biolink:NamedThing ovarian adenosarcoma A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. tmpte7i6ely_mondo_relaxed.owl ovarian adenosarcoma|ovary adenosarcoma|adenosarcoma of ovary|ovarian mullerian adenosarcoma|ovarian Mullerian adenosarcoma|ovarian mesodermal adenosarcoma|ovarian Müllerian adenosarcoma DOID:4115|NCIT:C7317|UMLS:C1335169 owl:Class GO:0010957 biolink:NamedThing negative regulation of vitamin D biosynthetic process Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0072525 biolink:NamedThing pyridine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. tmpte7i6ely_mondo_relaxed.owl pyridine and derivative biosynthetic process|pyridine-containing compound biosynthesis|pyridine-containing compound formation|pyridine-containing compound synthesis|pyridine-containing compound anabolism owl:Class GO:0106016 biolink:NamedThing positive regulation of inflammatory response to wounding Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013842 biolink:NamedThing cortisone reductase deficiency 2 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. tmpte7i6ely_mondo_relaxed.owl 11-beta-hydroxysteroid dehydrogenase type 1 deficiency|cortisone reductase deficiency caused by mutation in HSD11B1|HSD11B1 cortisone reductase deficiency|cortisone reductase deficiency type 2|CORTRD2|cortisone reductase deficiency 2 UMLS:C3553382|DOID:0090140|NCIT:C131084|Orphanet:168588|OMIM:614662 owl:Class MONDO:0024419 biolink:NamedThing enthesitis Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. tmpte7i6ely_mondo_relaxed.owl inflammation of enthesis|enthesis inflammation|enthesitis|inflammatory enthesopathy NCIT:C114470|UMLS:C1282952|SCTID:359643005 owl:Class MONDO:0003669 biolink:NamedThing testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. tmpte7i6ely_mondo_relaxed.owl seminoma testis|testicular seminoma|testis seminoma|seminoma of the testis|testicular seminoma Pure|testicular seminomatous germ cell tumor|testicular seminoma (disease)|seminomatous germ cell tumor of testis|seminoma of testis HP:0100617|OMIM:273300|ICD10:C62.9|NCIT:C7328|ICD9:186.9|GARD:0004792|EFO:0003101|SCTID:443675005|SCTID:255107005|DOID:5842|Orphanet:842|MESH:D018239 https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma owl:Class CL:0000052 biolink:NamedThing totipotent stem cell A stem cell from which all cells of the body can form. tmpte7i6ely_mondo_relaxed.owl totipotential stem cell FMA:84790 cell owl:Class MONDO:0030877 biolink:NamedThing cardioacrofacial dysplasia 2 tmpte7i6ely_mondo_relaxed.owl CAFD2|cardioacrofacial dysplasia 2 OMIM:619143 owl:Class NCBITaxon:2497576 biolink:NamedThing Ellioviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497571 biolink:NamedThing Polyploviricotina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005400 biolink:NamedThing telencephalon arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009096 biolink:NamedThing hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. tmpte7i6ely_mondo_relaxed.owl hereditary diffuse leukoencephalopathy with spheroids|leukoencephalopathy, diffuse hereditary, with spheroids|familial dementia, Neumann type|pigmentary orthochromatic leukodystrophy|autosomal dominant leukoencephalopathy with neuroaxonal spheroids|HDLS|familial progressive subcortical gliosis|POLD|dementia, familial, Neumann type|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|leukoencephalopathy, hereditary diffuse, with spheroids|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|adult-onset leukodystrophy with neuroaxonal spheroids|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|subcortical gliosis of Neumann|hereditary diffuse leukoencephalopathy with axonal spheroids|FPSG|neuroaxonal leukodystrophy|ALSP|gliosis, familial progressive subcortical|GPSC 2022-05-01 ICD10:E75.2|ICD9:323.81|OMIM:221820|SCTID:702427005|MESH:C580150|UMLS:C3711381|GARD:0010981|DOID:0080523|NCIT:C153289|Orphanet:313808 This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030796. MONDO:800027 Leukoencephalopathy, diffuse hereditary, with spheroids 1 will be added as the more specific subclass. owl:Class GO:0042321 biolink:NamedThing negative regulation of circadian sleep/wake cycle, sleep Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpte7i6ely_mondo_relaxed.owl down regulation of circadian sleep/wake cycle, sleep|inhibition of circadian sleep/wake cycle, sleep|down-regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|downregulation of circadian sleep/wake cycle, sleep owl:Class MONDO:0022812 biolink:NamedThing complement receptor deficiency A disorder with basis in disruption of a complement receptor. tmpte7i6ely_mondo_relaxed.owl complement receptor deficiency GARD:0009527|ICD9:279.8|UMLS:C0398783|SCTID:234628004 https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency owl:Class MONDO:0024304 biolink:NamedThing ichthyosis vulgaris The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin. tmpte7i6ely_mondo_relaxed.owl common ichthyosis|ichthyosis vulgaris|fish scale disease GARD:0006752|UMLS:C0079584|NCIT:C84778 https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris owl:Class NCBITaxon:7962 biolink:NamedThing Cyprinus carpio tmpte7i6ely_mondo_relaxed.owl carp|common carp|koi|fancy carp|mirror carp GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7961 biolink:NamedThing Cyprinus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009996 biolink:NamedThing rhizomelic syndrome, Urbach type Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. tmpte7i6ely_mondo_relaxed.owl rhizomelic syndrome|familial rhizomelic dysplasia|rhizomelic dysplasia, familial UMLS:C1849382|GARD:0004705|ICD10:Q87.1|OMIM:268250|MESH:C537611|Orphanet:3098 owl:Class MONDO:0000478 biolink:NamedThing multifocal dystonia A dystonia that involves two or more unrelated body parts. tmpte7i6ely_mondo_relaxed.owl DOID:0050837 owl:Class CL:1000706 biolink:NamedThing ureter urothelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001117 cell owl:Class MONDO:0005167 biolink:NamedThing fibroma A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. tmpte7i6ely_mondo_relaxed.owl fibroma|fibroma, benign SCTID:424568000|MESH:D005350|NCIT:C3041|DOID:0050871|EFO:0002424|ICD9:215.9|ICDO:8810/0 owl:Class MONDO:0012045 biolink:NamedThing myopia 5, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MYP5|myopia 5, autosomal dominant MESH:C563922|OMIM:608474|UMLS:C1837972 owl:Class MONDO:0021036 biolink:NamedThing keratosis pilaris A form of dry skin characterised by hair follicles plugged by scale. tmpte7i6ely_mondo_relaxed.owl KP SCTID:5132005|NCIT:C124070 owl:Class GO:0015760 biolink:NamedThing glucose-6-phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:243 biolink:NamedThing ADD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015398 biolink:NamedThing hemifacial microsomia tmpte7i6ely_mondo_relaxed.owl Laterofacial microsomia|first branchial arch syndrome|otomandibular dysostosis|otomandibular syndrome ICD10:Q75.8|SCTID:109393007|UMLS:CN199493|Orphanet:141136|GARD:0006582 owl:Class MONDO:0005475 biolink:NamedThing migraine with aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. tmpte7i6ely_mondo_relaxed.owl classic migraine NCIT:C117005|UMLS:C0154723|EFO:0005295|ICD9:346.0|OMIM:609179|DOID:10024|OMIM:609670|MESH:D020325|SCTID:4473006|ICD10:G43.109|HP:0002077|ICD9:346.00|ICD10:G43.1 owl:Class MONDO:0005277 biolink:NamedThing migraine disorder A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. tmpte7i6ely_mondo_relaxed.owl migraine disorder|migraine with or without aura|migraine variant|migraine|migraine headache NCIT:C113482|ICD9:346.9|ICD9:346|DOID:6364|ICD10:G43.9|ICD10:G43.909|ICD10:G43|SCTID:37796009|NCIT:C89715|MESH:D008881|EFO:0003821 owl:Class MONDO:0020788 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 2 tmpte7i6ely_mondo_relaxed.owl HOMGSMR2|HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 OMIM:618314 owl:Class MONDO:0024346 biolink:NamedThing pityriasis amiantacea tmpte7i6ely_mondo_relaxed.owl pityriasis amiantacea|tinea amiantacea ICD9:696.5|UMLS:C0343100|SCTID:238924007 owl:Class FOODON:03400164 biolink:NamedThing dairy product (us cfr) Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0164 http://langual.org owl:Class UBERON:0013581 biolink:NamedThing metapodium bone 1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50523 biolink:NamedThing butenolide A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives. tmpte7i6ely_mondo_relaxed.owl furan-2-one|butenolides|2-furanone owl:Class UBERON:0001636 biolink:NamedThing posterior cerebral artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010704 biolink:NamedThing otopalatodigital syndrome type 1 Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. tmpte7i6ely_mondo_relaxed.owl otopalatodigital syndrome, type I|OPD 1 syndrome|OPD syndrome 1|OPD1|frontootopalatodigital osteodysplasia|otopalatodigital syndrome, type 1|OPD syndrome|oto-palato-digital syndrome type 1|otopalatodigital spectrum disorder|OPD I syndrome|Taybi syndrome DOID:0111783|NCIT:C118845|GARD:0005121|ICD10:Q87.0|OMIM:311300|UMLS:C2748918|Orphanet:669|SCTID:54036001|Orphanet:90650|ICD9:759.89 owl:Class MONDO:0044724 biolink:NamedThing 3-methylglutaconic aciduria type 9 tmpte7i6ely_mondo_relaxed.owl 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-methylglutaconic acuduria type IX, MGCA9|MGCA9|3-Methylglutaconic aciduria, type 9|3-methylglutaconic acuduria type IX|3-METHYLGLUTACONIC aciduria, type IX|MGA9 DOID:0070002|UMLS:CN510468|Orphanet:505216|OMIM:617698 owl:Class ECTO:9000376 biolink:NamedThing exposure to formic acid An exposure to formic acid. tmpte7i6ely_mondo_relaxed.owl exposure to formic acid owl:Class MONDO:0008438 biolink:NamedThing hereditary spastic paraplegia 4 Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. tmpte7i6ely_mondo_relaxed.owl SPAST hereditary spastic paraplegia|hereditary spastic paraplegia type 4|autosomal dominant spastic paraplegia 4|autosomal dominant spastic paraplegia type 4|spastic paraplegia 4, autosomal dominant|SPG4|familial spastic paraplegia autosomal dominant 2|familial spastic paraplegia, autosomal dominant, 2|FSP2|spastic paraplegia 4|hereditary spastic paraplegia caused by mutation in SPAST|hereditary spastic paraplegia 4 ICD10:G11.4|OMIM:182601|UMLS:C1866855|SCTID:723820001|NCIT:C129981|GARD:0004925|DOID:0110792|Orphanet:100985|MESH:C536865|UMLS:C4510079 owl:Class MONDO:0009835 biolink:NamedThing subacute sclerosing panencephalitis Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. tmpte7i6ely_mondo_relaxed.owl Dawson encephalitis|Van Bogaert disease|Van Bogaert encephalitis|SSPE|subacute sclerosing leukoencephalopathy|panencephalitis, SUBACUTE sclerosing|subacute sclerosing panencephalitis|Subacute sclerosing leukoencephalitis|Dawson's encephalitis|Subacute sclerosing panencephalitis|Dawson disease|Subacute sclerosing panencephalitis (disorder) [ambiguous]|Van Bogaert's sclerosing leukoencephalitis|Subacute inclusion body encephalitis|Immunosuppressive measles encephalitis MESH:D013344|ICD10:A81.1|DOID:8970|UMLS:C0038522|ICD9:046.2|OMIM:260470|EFO:0007502|Orphanet:2806|NCIT:C85171|GARD:0007708 https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis owl:Class MONDO:0009205 biolink:NamedThing faciocardiorenal syndrome Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. tmpte7i6ely_mondo_relaxed.owl Eastman-Bixler syndrome|faciocardiorenal syndrome|Eastman Bixler syndrome MESH:C536388|UMLS:C0795936|OMIM:227280|Orphanet:1973|ICD10:Q87.8|GARD:0002230|SCTID:723333000 https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome owl:Class UBERON:0019189 biolink:NamedThing carotid artery endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4444 biolink:NamedThing GP9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008889 biolink:NamedThing thromboangiitis obliterans Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. tmpte7i6ely_mondo_relaxed.owl occlusive peripheral vascular disease|thromboangiitis obliterans [Buerger's disease]|BUERGER disease|presenile gangrene|Buerger's disease|TAO|inflammatory occlusive peripheral vascular disease|thromboangiitis obliterans GARD:0005969|DOID:12918|SCTID:52403007|Orphanet:36258|ICD10:I73.1|MedDRA:10043540|NCIT:C35070|UMLS:C0040021|ICD9:443.1|OMIM:211480|EFO:1001211|MESH:D013919 owl:Class MONDO:0004578 biolink:NamedThing flat retinoschisis tmpte7i6ely_mondo_relaxed.owl UMLS:C0154817|DOID:8464|SCTID:83405000|ICD9:361.11 owl:Class MONDO:0006111 biolink:NamedThing bladder flat intraepithelial lesion A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ. tmpte7i6ely_mondo_relaxed.owl bladder flat intraepithelial lesion|flat intraepithelial lesion of the urinary bladder|flat intraepithelial lesion of the bladder|urinary bladder flat intraepithelial lesion UMLS:C1332559|DOID:5429|EFO:1000126|NCIT:C37266 owl:Class MONDO:0007312 biolink:NamedThing Charcot-Marie-Tooth disease with ptosis and parkinsonism tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease with ptosis and parkinsonism OMIM:118301|MESH:C538079|UMLS:C1861668 owl:Class MONDO:0004890 biolink:NamedThing partial central choroid dystrophy tmpte7i6ely_mondo_relaxed.owl partial central choroid dystrophy|choroidal dystrophy, central areolar|circinate choroidal dystrophy|partial central dystrophy of choroid ICD9:363.53|DOID:9822|SCTID:193468002|UMLS:C0339427|OMIM:613105 owl:Class MONDO:0010928 biolink:NamedThing dwarfism, familial, with muscle spasms tmpte7i6ely_mondo_relaxed.owl dwarfism familial with muscle spasms|dwarfism, familial, with muscle spasms|familial dwarfism and painful muscle spasms MESH:C563447|GARD:0010610|UMLS:C1833341|OMIM:600771 https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms owl:Class UBERON:0035102 biolink:NamedThing transverse process of caudal vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001924 biolink:NamedThing dystrophies primarily involving the retinal pigment epithelium tmpte7i6ely_mondo_relaxed.owl DOID:14252|ICD10:H35.54|ICD9:362.76 owl:Class HGNC:14048 biolink:NamedThing MRPS16 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30650 biolink:NamedThing STRA6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0031014 biolink:NamedThing autoimmune gastritis Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma. tmpte7i6ely_mondo_relaxed.owl autoimmune gastritis (disease) NCIT:C95752|DOID:0040090 owl:Class NCBITaxon:83136 biolink:NamedThing Trombidiformes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0060300 biolink:NamedThing regulation of cytokine activity Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000458 biolink:NamedThing proneural glioblastoma A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications. tmpte7i6ely_mondo_relaxed.owl proneural glioblastoma|glioblastoma proneural subtype UMLS:C3828464|DOID:0050804|NCIT:C111692 owl:Class MONDO:0033926 biolink:NamedThing prepubertal anorexia nervosa tmpte7i6ely_mondo_relaxed.owl Orphanet:525738 owl:Class MONDO:0056799 biolink:NamedThing synovium disorder A disease or disorder that involves the layer of synovial tissue. tmpte7i6ely_mondo_relaxed.owl disease or disorder of layer of synovial tissue|layer of synovial tissue disease or disorder|disorder of layer of synovial tissue|disorder of synovium|layer of synovial tissue disease|disease of layer of synovial tissue ICD9:727.9|SCTID:3519007|ICD9:727.89|UMLS:C0263945 owl:Class ENVO:01000958 biolink:NamedThing terrestrial planet A planet that is composed primarily of silicate rocks or metals. tmpte7i6ely_mondo_relaxed.owl telluric planet|Earth-like planet|rocky planet owl:Class MONDO:0015744 biolink:NamedThing distal trisomy 19q Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. tmpte7i6ely_mondo_relaxed.owl telomeric duplication 19q|distal duplication 19q|trisomy 19qter|distal trisomy type 19q SCTID:766052008|Orphanet:1717|ICD10:Q92.3 owl:Class MONDO:0003734 biolink:NamedThing adult central nervous system immature teratoma tmpte7i6ely_mondo_relaxed.owl adult central nervous system immature teratoma DOID:6018|UMLS:C1332193|NCIT:C27401 owl:Class UBERON:0012303 biolink:NamedThing ureteral orifice tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008284 biolink:NamedThing polyposis of gastric fundus without polyposis coli tmpte7i6ely_mondo_relaxed.owl polyposis of gastric fundus without polyposis coli|fundic gland polyposis OMIM:175505|MESH:C566775|UMLS:C1868001 owl:Class MONDO:0013335 biolink:NamedThing tuberculin skin test reactivity, absence of tmpte7i6ely_mondo_relaxed.owl tst reactivity, absence of|Tst1|tuberculin skin test reactivity, absence of OMIM:613636 owl:Class MONDO:0010403 biolink:NamedThing albinism-hearing loss syndrome A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. tmpte7i6ely_mondo_relaxed.owl ALDS|albinism deafness syndrome|albinism-deafness syndrome|Woolf's syndrome|Ziprkowski–Margolis syndrome|ADFN|Woolf syndrome OMIM:300700|SCTID:74320008|GARD:0000589|ICD10:H90.5|SCTID:722285005|Orphanet:998|MESH:C537042 Editor note: check whether precisely identicial to Woolf syndrome https://github.com/monarch-initiative/mondo/issues/551|https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome owl:Class GO:1903649 biolink:NamedThing regulation of cytoplasmic transport Any process that modulates the frequency, rate or extent of cytoplasmic transport. tmpte7i6ely_mondo_relaxed.owl regulation of cytoplasmic streaming owl:Class GO:0022832 biolink:NamedThing voltage-gated channel activity Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011524 biolink:NamedThing Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. tmpte7i6ely_mondo_relaxed.owl DALD|Dianzani autoimmune lymphoproliferative disease|Dianzani form of autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|Dianzani autoimmune lymphoproliferative syndrome ICD10:D47.9|SCTID:721093000|UMLS:C2931071|Orphanet:275523|OMIM:605233|GARD:0009797|MESH:C535950 owl:Class MONDO:0004940 biolink:NamedThing acute female pelvic peritonitis tmpte7i6ely_mondo_relaxed.owl ICD10:N73.3|SCTID:85051008|DOID:9978|UMLS:C0269032|ICD9:614.5 owl:Class MONDO:0007045 biolink:NamedThing acrofacial dysostosis, Catania type Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. tmpte7i6ely_mondo_relaxed.owl acrofacial dysostosis Catania type|acrofacial dysostosis, Catania type|Opitz-Caltabiano syndrome|Opitz Mollica Sorge syndrome|Afd, Catania type|AFD Catania type GARD:0000494|ICD10:Q75.4|SCTID:720419000|UMLS:C2931762|DOID:0060384|MESH:C538182|Orphanet:1786|OMIM:101805 owl:Class MONDO:0001016 biolink:NamedThing epididymis cancer A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. tmpte7i6ely_mondo_relaxed.owl malignant epididymal tumor|cancer of epididymis|malignant tumor of epididymis|malignant neoplasm of the epididymis|epididymis cancer|malignant tumor of the epididymis|malignant epididymis neoplasm|malignant neoplasm of epididymis|malignant epididymal neoplasm NCIT:C3558|ICD9:187.5|UMLS:C0153602|SCTID:363452003|ICD10:C63.0|DOID:10366 owl:Class MONDO:0014328 biolink:NamedThing developmental and epileptic encephalopathy, 19 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene. tmpte7i6ely_mondo_relaxed.owl DEE19|epileptic encephalopathy, early infantile, type 19|GABRA1 early infantile epileptic encephalopathy|Early Infantile epileptic encephalopathy 19|EIEE19|epileptic encephalopathy, early infantile, 19|early infantile epileptic encephalopathy caused by mutation in GABRA1 Orphanet:33069|OMIM:615744|NCIT:C142802|UMLS:C3810400|DOID:0080431 owl:Class MONDO:0002310 biolink:NamedThing anterior dislocation of lens tmpte7i6ely_mondo_relaxed.owl UMLS:C0155372|DOID:2460|ICD9:379.33|ICD10:H27.12|SCTID:37283009 owl:Class HP:0001051 biolink:NamedThing Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. tmpte7i6ely_mondo_relaxed.owl Dysseborrheic dermatitis|Seborrheic eczema|Seborrhea SNOMEDCT_US:50563003|UMLS:C3806554|UMLS:C0036508|SNOMEDCT_US:86708008|MSH:D012628 Dandruff. HP:0007562 human_phenotype owl:Class MONDO:0006737 biolink:NamedThing dystocia Slow or difficult obstetric labor or childbirth. tmpte7i6ely_mondo_relaxed.owl EFO:1000911|MESH:D004420 owl:Class GO:0098645 biolink:NamedThing collagen network A supramolecular complex that consists of collagen triple helices associated to form a network. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011166 biolink:NamedThing patellofemoral joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013042 biolink:NamedThing atypical hemolytic-uremic syndrome with B factor anomaly tmpte7i6ely_mondo_relaxed.owl aHUS, susceptibility to, 4|D-HUS with B factor anomaly|aHUS4|hemolytic uremic syndrome, atypical, susceptibility to, type 4|hemolytic-uremic syndrome without diarrhea with B factor anomaly|AHUS4|hemolytic uremic syndrome, atypical, susceptibility to, 4|susceptibility to atypical hemolytic uremic syndrome 4|aHUS with B factor anomaly|atypical HUS with B factor anomaly ICD10:D58.8|Orphanet:2134|Orphanet:93578|OMIM:612924 owl:Class HGNC:6005 biolink:NamedThing IL21 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008478 biolink:NamedThing spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. tmpte7i6ely_mondo_relaxed.owl spondylometaphyseal dysplasia with severe genu valgum|spondylometaphyseal dysplasia Algerian type|Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia, Schmidt type|spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia, Algerian type Orphanet:93316|OMIM:184253|GARD:0000504|ICD10:Q77.8|MESH:C535794|SCTID:719304005 owl:Class MONDO:0019266 biolink:NamedThing SAPHO syndrome SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. tmpte7i6ely_mondo_relaxed.owl synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|acquired hyperostosis syndrome|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|synovitis acne pustulosis hyperostosis osteitis|synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome|PPHS|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis ICD9:706.1|MESH:D020083|MedDRA:10051316|NCIT:C119049|Orphanet:793|SCTID:60684003|EFO:1001164|UMLS:C0263859|GARD:0007606|DOID:13677|ICD10:M86.3 https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome owl:Class UBERON:0003619 biolink:NamedThing aorta tunica intima tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003397 biolink:NamedThing gingival hypertrophy Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. tmpte7i6ely_mondo_relaxed.owl hypertrophy of gingivae SCTID:54711002|UMLS:C0017567|DOID:5338|MESH:D005886 owl:Class MONDO:0019088 biolink:NamedThing post-transplant lymphoproliferative disease Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl PTLD|post-transplant lymphoproliferative disorder MedDRA:10051358|SCTID:254290004|Orphanet:70568|ICD10:D47.9|ICDO:9971/1|NCIT:C4727|UMLS:C0432487|GARD:0009553 https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease owl:Class MONDO:0007377 biolink:NamedThing granular corneal dystrophy type I Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. tmpte7i6ely_mondo_relaxed.owl GCD1|corneal dystrophy Groenouw type I|classic GCD|corneal dystrophy, Groenouw type 1|corneal dystrophy, Groenouw type I|Groenouw type I corneal dystrophy|granular corneal dystrophy, type 1|corneal dystrophy punctate or nodular|granular corneal dystrophy type 1|corneal dystrophy, punctate or nodular|CDGG1|classic granular corneal dystrophy|GCDI|corneal dystrophy granular type Orphanet:98962|DOID:0080530|ICD10:H18.5|MESH:C537304|GARD:0009677|OMIM:121900|SCTID:419039007|UMLS:C1641846 owl:Class MONDO:0018197 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebrorenal form tmpte7i6ely_mondo_relaxed.owl mtDNA depletion syndrome, hepatocerebrorenal form UMLS:CN204706|ICD10:E88.8|Orphanet:363534 owl:Class MONDO:0015874 biolink:NamedThing benign ductal tumor of breast tmpte7i6ely_mondo_relaxed.owl ICD10:D24|Orphanet:180284|UMLS:CN200479 owl:Class MONDO:0020562 biolink:NamedThing pleomorphic liposarcoma Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma. tmpte7i6ely_mondo_relaxed.owl PLS|pleomorphic liposarcoma|PLLS|pleomorphic liposarcoma (morphologic abnormality) ONCOTREE:PLLS|NCIT:C3705|SCTID:404071006|Orphanet:99969|ICD10:C49.9|UMLS:C0205825|DOID:5702|MESH:D008080|ICDO:8854/3|EFO:0003083|ICD9:171.9 owl:Class MONDO:0011076 biolink:NamedThing myofibrillar myopathy 1 Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. tmpte7i6ely_mondo_relaxed.owl myofibrillar myopathy type 1|desminopathy, primary|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|desmin-related myopathy|MFM1|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|CMD1F and LGMD1D|CMD1F and LGMD1D, formerly|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|myofibrillar myopathy (disease) caused by mutation in DES|myopathy, myofibrillar, desmin-related|desminopathy|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|arrhythmogenic right ventricular cardiomyopathy 7|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|myofibrillar myopathy 1|myopathy, myofibrillar, type 1|inclusion body myopathy 1, autosomal dominant, formerly|IBM1|arrhythmogenic right ventricular dysplasia, familial, 7|inclusion body myopathy 1, autosomal dominant|DES myofibrillar myopathy (disease)|myopathy, myofibrillar, 1|arrhythmogenic right ventricular cardiomyopathy 7, formerly|desmin-related myofibrillar myopathy UMLS:C1832370|DOID:0080092|Orphanet:98909|ICD10:G71.8|OMIM:601419 owl:Class MONDO:0021960 biolink:NamedThing ureteritis An acute or chronic inflammatory process affecting the ureter. tmpte7i6ely_mondo_relaxed.owl ureteritis|Inflammation of ureter|Ureteritis NCIT:C78666|UMLS:C0041959|SCTID:111405003 owl:Class HGNC:2235 biolink:NamedThing KLF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001869 biolink:NamedThing paraurethral gland cancer A malignant neoplasm involving the paraurethral gland. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of paraurethral gland|paraurethral gland cancer|malignant tumor of the paraurethral gland|malignant tumor of paraurethral gland|cancer of paraurethral gland|malignant paraurethral gland neoplasm ICD9:189.4|SCTID:363460002|UMLS:C0153621|ICD10:C68.1|DOID:14059 owl:Class UBERON:0004987 biolink:NamedThing mucosa of laryngopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411998 biolink:NamedThing decapod The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda] tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002653 biolink:NamedThing Paget disease of the penis A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003 tmpte7i6ely_mondo_relaxed.owl Paget's disease of the penis|Paget disease of the penis|penis Paget disease|penile adenocarcinoma|Paget's disease of penis|penis mammary Paget's disease|penis Paget's disease DOID:3448|NCIT:C27817|UMLS:C0221286|SCTID:398768004 owl:Class UBERON:0001512 biolink:NamedThing skin of ankle tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35346 biolink:NamedThing 11beta-hydroxy steroid Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. tmpte7i6ely_mondo_relaxed.owl 11beta-hydroxysteroids|11beta-Hydroxysteroid|11beta-hydroxy steroids|an 11beta-hydroxysteroid owl:Class MONDO:0015617 biolink:NamedThing genetic gastro-esophageal disease tmpte7i6ely_mondo_relaxed.owl Orphanet:165658|UMLS:CN199993 owl:Class MONDO:0012108 biolink:NamedThing spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia matrilin-3 related|spondyloepimetaphyseal dysplasia, matrilin-3 related|spondyloepimetaphyseal dysplasia matrilin-3 type|SEMD, matrilin-3 type|SEMD, MATN3-related|SEMD MATN3-related OMIM:608728|UMLS:C1837481|GARD:0010611|Orphanet:156728|SCTID:719166003|ICD10:Q77.7|MESH:C563869 owl:Class MONDO:0018608 biolink:NamedThing pure autonomic failure Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. tmpte7i6ely_mondo_relaxed.owl orthostatic hypotension (a symptom)|idiopathic orthostatic hypotension (a symptom)|Pure idiopatic dysautonomia|idiopathic orthostatic hypotension|Bradbury Eggleston syndrome|PAF|Bradbury-Eggleston syndrome|Pure dysautonomia MESH:D054970|UMLS:C0393911|UMLS:CN205091|SCTID:84438001|ICD10:G90.3|UMLS:C2931939|GARD:0010428|Orphanet:441 owl:Class NCIT:C35886 biolink:NamedThing Morphologic Architectural Pattern tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004456 biolink:NamedThing entire sense organ system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022815 biolink:NamedThing congenital absence of the sternocleidomastoid muscle tmpte7i6ely_mondo_relaxed.owl MESH:C535977|UMLS:C2931075|GARD:0009972 https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle owl:Class HP:0003107 biolink:NamedThing Abnormal circulating cholesterol concentration Any deviation from the normal concentration of cholesterol in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormality of cholesterol metabolism|Abnormal cholesterol homeostasis UMLS:C4025656 peter 2008-03-17T01:02:00Z HP:0003464 human_phenotype owl:Class MONDO:0012828 biolink:NamedThing atrial fibrillation, familial, 7 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, 7|ATFB7|familial atrial fibrillation caused by mutation in KCNA5|KCNA5 familial atrial fibrillation|atrial fibrillation, familial, type 7 OMIM:612240|Orphanet:334|UMLS:C2677106|MESH:C567389 owl:Class MONDO:0019898 biolink:NamedThing distal monosomy 14q Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. tmpte7i6ely_mondo_relaxed.owl distal deletion 14q|distal monosomy type 14q|telomeric deletion 14q ICD10:Q93.5|Orphanet:96150 owl:Class MONDO:0016912 biolink:NamedThing partial deletion of the long arm of chromosome 14 Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. tmpte7i6ely_mondo_relaxed.owl 14q deletion|partial monosomy of chromosome 14q|14q monosomy|monosomy 14q|partial monosomy of the long arm of chromosome 14|chromosome 14q deletion|partial monosomy 14q|partial deletion of chromosome 14q|deletion 14q|partial deletion of the long arm of chromosome type 14 Orphanet:262110|GARD:0003722|ICD10:Q93.5 owl:Class MONDO:0009243 biolink:NamedThing Fraser-like syndrome tmpte7i6ely_mondo_relaxed.owl Fraser-like syndrome|Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230|UMLS:C1856708|Orphanet:2051|UMLS:CN200837|MESH:C565562 owl:Class MONDO:0013110 biolink:NamedThing neurodegenerative syndrome due to cerebral folate transport deficiency tmpte7i6ely_mondo_relaxed.owl neurodegeneration due to cerebral folate TRANSPORT deficiency|neurodegenerative syndrome due to cerebral folate transport deficiency|cerebral folate receptor alpha deficiency|cerebral folate deficiency syndrome|cerebral folate transport deficiency OMIM:613068|MESH:C567791|ICD9:266.2|Orphanet:217382|ICD10:G31.8|GARD:0010594|SCTID:711403001|DOID:0050719 owl:Class MONDO:0005752 biolink:NamedThing epidural abscess Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) tmpte7i6ely_mondo_relaxed.owl spinal extradural abscess|intraspinal extradural abscess|intraspinal epidural abscess|extradural intraspinal abscess|spinal epidural abscess (disorder)|spinal epidural abscess|abscess epidural EFO:0007260|DOID:11387|MESH:D020802|SCTID:61974008|UMLS:C0270629 owl:Class MONDO:0021010 biolink:NamedThing skin lymphangiosarcoma A malignant vascular neoplasm of the skin arising from the lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl lymphangiosarcoma of Stewart and Treves|skin lymphangiosarcoma|lymphangiosarcoma of skin|lymphangiosarcoma of the skin SCTID:62497000|NCIT:C4490|UMLS:C0346082|ICD9:171.2|DOID:2689 owl:Class GO:0016628 biolink:NamedThing oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003320 biolink:NamedThing mesenchyme of hip tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:09000014 biolink:NamedThing amount of nitrogen atom in soil The amount of a nitrogen atom when measured in soil. tmpte7i6ely_mondo_relaxed.owl soil nitrogen atom amount owl:Class UBERON:0014403 biolink:NamedThing male anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013858 biolink:NamedThing pontine tegmental cap dysplasia Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation. tmpte7i6ely_mondo_relaxed.owl pontine tegmental cap dysplasia|PONTINE tegmental CAP dysplasia|PTCD UMLS:C3541340|ICD10:Q04.8|Orphanet:269229|GARD:0010919|OMIM:614688 https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia owl:Class MONDO:8000001 biolink:NamedThing staphylococcus discitis Discitis caused by infection with Staphylococcus. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11771 biolink:NamedThing TGFBI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010977 biolink:NamedThing Brody myopathy Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. tmpte7i6ely_mondo_relaxed.owl Brody disease|sarcoplasmic reticulum -Ca2+ATPase deficiency|Brody myopathy ICD9:359.89|MESH:C536607|SCTID:703530005|GARD:0009158|DOID:0050692|OMIM:601003|Orphanet:53347|UMLS:C1832918|ICD10:G71.8 https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy owl:Class CHEBI:33240 biolink:NamedThing coordination entity An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). tmpte7i6ely_mondo_relaxed.owl coordination compounds|coordination entities|coordination entity owl:Class MONDO:0016784 biolink:NamedThing gestational trophoblastic disease tmpte7i6ely_mondo_relaxed.owl ICD9:631|Orphanet:254685|ONCOTREE:GTD|UMLS:C1135868|SCTID:416402001 Grouping for hydatidiform mole and gestational trophoblastic neoplasm owl:Class MONDO:0026777 biolink:NamedThing VEXAS syndrome An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death. tmpte7i6ely_mondo_relaxed.owl vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome|VEXAS Orphanet:596753|OMIM:301054 owl:Class UBERON:0018707 biolink:NamedThing bladder organ tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000528 biolink:NamedThing Anophthalmia Absence of the globe or eyeball. tmpte7i6ely_mondo_relaxed.owl Anophthalmia, clinical|Absence of globes of eyes|Failure of development of eyeball|Clinical anophthalmia, unilateral/bilateral|Missing eyeball|No eyeball|Ocular absence|Missing globe of eye|Absence of eyeballs|No globe of eye MSH:D000853|UMLS:C0003119|Fyler:4864|SNOMEDCT_US:7183006|SNOMEDCT_US:204099004 HP:0007664|HP:0001485 human_phenotype owl:Class MONDO:0015677 biolink:NamedThing cardiac diverticulum Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. tmpte7i6ely_mondo_relaxed.owl Cardiac diverticulum|cardiac diverticulum (disease) cardiac diverticulum (disease) GARD:0001094|Orphanet:1686|ICD10:Q24.8|HP:0100571|UMLS:CN226726 owl:Class UBERON:0019196 biolink:NamedThing iliac artery endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018132 biolink:NamedThing tail fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003316 biolink:NamedThing nonanaplastic kidney Wilms tumor Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. tmpte7i6ely_mondo_relaxed.owl Nonanaplastic renal Wilms tumor|nonanaplastic renal Wilms tumor|Nonanaplastic kidney Wilms tumor|Nonanaplastic renal Wilm's tumor|Nonanaplastic renal Wilms' tumor UMLS:C1335062|NCIT:C6951 owl:Class MONDO:0018227 biolink:NamedThing hypocomplementemic urticarial vasculitis Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. tmpte7i6ely_mondo_relaxed.owl Mac Duffie hypocomplementemic urticarial vasculitis|McDuffie hypocomplementemic urticarial vasculitis|anti-C1q vasculitis|McDuffie syndrome|Mac Duffie syndrome ICD10:M31.8|UMLS:CN204757|Orphanet:36412|GARD:0006725|SCTID:239945009|UMLS:C0343206 https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis owl:Class MONDO:0043294 biolink:NamedThing linear scleroderma A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. tmpte7i6ely_mondo_relaxed.owl Scleroderma, linear|linear scleroderma|en coup de sabre|linear morphea|linear Scleroderma NCIT:C116780|GARD:0009513|SCTID:22784002 owl:Class MONDO:0002072 biolink:NamedThing melanotic neuroectodermal tumor A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course. tmpte7i6ely_mondo_relaxed.owl melanotic neuroectodermal tumor of infancy|melanotic neuroectodermal tumor (morphologic abnormality)|melanotic Progonoma|retinal anlage neoplasm|infantile melanotic neuroectodermal neoplasm|pigmented neuroectodermal tumour of infancy|pigmented neuroectodermal tumor|melanotic neuroectodermal tumor of infancy (morphologic abnormality)|MNTI MESH:D017600|ICDO:9363/0|EFO:1001038|SCTID:404042005|UMLS:C0206094|DOID:166|NCIT:C3717 owl:Class MONDO:0017102 biolink:NamedThing isolated focal cortical dysplasia type IIb tmpte7i6ely_mondo_relaxed.owl FCD type IIb UMLS:CN202460|ICD10:Q04.8|Orphanet:269008|OMIM:607341 owl:Class MONDO:0100278 biolink:NamedThing alanine glyoxylate aminotransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene. tmpte7i6ely_mondo_relaxed.owl AGXT deficiency|AGXT defect|alanine glyoxylate aminotransferase deficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017703 biolink:NamedThing disorder of glyoxylate metabolism tmpte7i6ely_mondo_relaxed.owl disorder of glyoxylate metabolism UMLS:CN227177|Orphanet:308998 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0023154 biolink:NamedThing fibromatosis multiple non ossifying tmpte7i6ely_mondo_relaxed.owl disseminated nonossifying fibromas in association with cafe-au-lait spots|Jaffe Campanacci syndrome GARD:0000309|SCTID:715432009|UMLS:C0796000 https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying owl:Class MONDO:0020572 biolink:NamedThing complex regional pain syndrome type 2 Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. tmpte7i6ely_mondo_relaxed.owl Complex regional pain syndrome, type II|causalgia|Complex regional pain syndrome II|CRPS II ICD10:G56.4|UMLS:C0007462|SCTID:408751001|Orphanet:99994|NCIT:C121572|MedDRA:10064335|DOID:3222|MedDRA:10007825|MESH:D002422|EFO:1000854 owl:Class ENVO:01000016 biolink:NamedThing silt Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0120305 biolink:NamedThing regulation of pigmentation Any process that modulates the frequency, rate or extent of the deposition or modulates the distribution of coloring matter in an organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011599 biolink:NamedThing birdshot chorioretinopathy Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. tmpte7i6ely_mondo_relaxed.owl vitiliginous choroiditis|Bscr|birdshot chorioretinopathy|BSCR|birdshot chorioretinitis|birdshot retinochoroiditis|multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|birdshot retinochoroidopathy MESH:C537630|Orphanet:179|DOID:0111079|UMLS:C1853959|ICD10:H30.1|UMLS:C0339402|GARD:0005926|SCTID:231981005|OMIM:605808 https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy owl:Class UBERON:0003466 biolink:NamedThing forelimb zeugopod bone tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035091 biolink:NamedThing extrinsic post-anal tail muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6341 biolink:NamedThing KISS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005187 biolink:NamedThing human herpesvirus 8 infection An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma. tmpte7i6ely_mondo_relaxed.owl Human Herpesvirus 8 infection|Human Herpes Virus 8 infection|HHV8 infection EFO:0002612|UMLS:C1512508|NCIT:C39291 owl:Class MONDO:0009513 biolink:NamedThing laryngo-onycho-cutaneous syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. tmpte7i6ely_mondo_relaxed.owl laryngo-onycho-cutaneous syndrome|laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|LOC syndrome|logic syndrome|Shabbir syndrome|LARYNGOONYCHOCUTANEOUS syndrome|LOCS MESH:C537032|UMLS:C1328355|ICD10:Q81.8|SCTID:722675000|Orphanet:2407|OMIM:245660|GARD:0000368 owl:Class UBERON:0005970 biolink:NamedThing brain commissure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016771 biolink:NamedThing annular atrophic lichen planus Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. tmpte7i6ely_mondo_relaxed.owl annular atrophic LP UMLS:C4304037|Orphanet:254411|GARD:0012676|SCTID:720493003|ICD10:L43.8 https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus owl:Class MONDO:0032647 biolink:NamedThing global developmental delay, lung cysts, overgrowth, and wilms tumor tmpte7i6ely_mondo_relaxed.owl GLOW|Glow Syndrome|GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR 2022-05-01 OMIM:618272 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0010764 biolink:NamedThing hearing loss, Y-linked 1 tmpte7i6ely_mondo_relaxed.owl deafness, Y-linked 1|DFNY1 UMLS:C3888076|OMIM:400043|DOID:0111759 owl:Class HP:0040064 biolink:NamedThing Abnormality of limbs tmpte7i6ely_mondo_relaxed.owl Dysmelia|Limb anomaly|Abnormality of limbs|Abnormal limbs SNOMEDCT_US:445144002|UMLS:C4073131|UMLS:C0239337 HPO:skoehler human_phenotype owl:Class UBERON:0003397 biolink:NamedThing mesentery of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030535 biolink:NamedThing epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive tmpte7i6ely_mondo_relaxed.owl EBS2D OMIM:619599 owl:Class MONDO:0013274 biolink:NamedThing retinitis pigmentosa 51 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene. tmpte7i6ely_mondo_relaxed.owl RP51|retinitis pigmentosa 51|TTC8 retinitis pigmentosa|retinitis pigmentosa caused by mutation in TTC8|retinitis pigmentosa type 51 OMIM:613464|DOID:0110398|UMLS:C3150715|ICD10:H35.5 owl:Class MONDO:0021923 biolink:NamedThing Arroyo Garcia Cimadevilla syndrome A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl bilateral anophthalmia, esophageal atresia, and right cryptorchidism GARD:0000771|MESH:C537439|UMLS:C2931494 https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome owl:Class CL:0002022 biolink:NamedThing Ly-76 high positive erythrocyte An enucleate erythrocyte that is Lyg-76-high. tmpte7i6ely_mondo_relaxed.owl Marker is associated with mouse cell types. tmeehan 2010-04-26T11:51:27Z cell owl:Class MONDO:0016831 biolink:NamedThing linear verrucous nevus syndrome tmpte7i6ely_mondo_relaxed.owl linear hamartoma syndrome UMLS:CN202159|GARD:0003259|Orphanet:2611|ICD10:Q82.5 owl:Class CHEBI:30413 biolink:NamedThing heme A heme is any tetrapyrrolic chelate of iron. tmpte7i6ely_mondo_relaxed.owl heme|hemos|haem|haeme|hem|Haem|hemes owl:Class MONDO:0003783 biolink:NamedThing lymphopenia Reduction in the number of lymphocytes. tmpte7i6ely_mondo_relaxed.owl lymphopenia|lymphopenia (disease)|lymphocytopenia lymphopenia (disease) ICD10:D72.810|SCTID:48813009|ICD9:288.51|ICD9:288.8|HP:0001888|UMLS:C0024312|MESH:D008231|DOID:614 owl:Class MONDO:0003785 biolink:NamedThing leukopenia A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl White blood cell decreased|leucopenia|leukocytopenia SCTID:84828003|MESH:D007970|DOID:615|ICD10:D72.819|ICD9:288.50|UMLS:C0023530|EFO:0004233|NCIT:C26816 owl:Class UBERON:0012363 biolink:NamedThing thyroid follicle epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012250 biolink:NamedThing Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy tmpte7i6ely_mondo_relaxed.owl CMT4H|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, autosomal recessive, type 4H|Charcot-Marie-Tooth neuropathy, type 4H|Charcot-Marie-Tooth disease, type 4H|autosomal recessive Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|Charcot-Marie-Tooth neuropathy type 4H|FGD4 Charcot-Marie-Tooth disease type 4 SCTID:715802008|ICD10:G60.0|DOID:0110192|MESH:C563740|GARD:0012442|OMIM:609311|Orphanet:99954|UMLS:C1836336 https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h owl:Class MONDO:0015085 biolink:NamedThing bathing suit ichthyosis Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body. tmpte7i6ely_mondo_relaxed.owl BSI SCTID:725588002|UMLS:C4511230|OMIM:242300|ICD10:Q80.2|Orphanet:100976 owl:Class MONDO:0004865 biolink:NamedThing blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. tmpte7i6ely_mondo_relaxed.owl acute non-suppurative otitis media - mucoid|acute mucoid otitis media|blue drum syndrome DOID:9736|UMLS:C0395863|ICD9:381.02|SCTID:52353000 owl:Class MONDO:0005480 biolink:NamedThing contact dermatitis An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. tmpte7i6ely_mondo_relaxed.owl contact dermatitis|contact dermatitis/eczema|dermatitis, venenata|dermatitis venenata|contact eczema DOID:2773|ICD10:L25.9|NCIT:C26743|ICD9:692.89|ICD10:L25|SCTID:40275004|EFO:0005319|MESH:D003877|ICD9:692.9|UMLS:C0011616 owl:Class GO:0031301 biolink:NamedThing integral component of organelle membrane The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl integral to organelle membrane owl:Class MONDO:0005704 biolink:NamedThing Ciliophora infectious disease Infections with protozoa of the phylum ciliophora. tmpte7i6ely_mondo_relaxed.owl Ciliophora disease or disorder|Ciliophora caused disease or disorder EFO:0007209|UMLS:C0085308|MESH:D016770 owl:Class GO:0046939 biolink:NamedThing nucleotide phosphorylation The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000102 biolink:NamedThing lung vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16973 biolink:NamedThing PPP1R17 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011229 biolink:NamedThing ethylmalonic encephalopathy Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. tmpte7i6ely_mondo_relaxed.owl syndrome of encephalopathy, petechiae, and ethylmalonic aciduria|eme|EPEMA syndrome|EE|encephalopathy, ethylmalonic|encephalopathy, petechiae, and ethylmalonic aciduria GARD:0002198|Orphanet:51188|SCTID:723307008|DOID:0060640|OMIM:602473|UMLS:C1865349|ICD10:G31.8|MESH:C535737 https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy owl:Class HP:0011458 biolink:NamedThing Abdominal symptom A subjective manifestation of disease localized to the abdomen. tmpte7i6ely_mondo_relaxed.owl UMLS:C0740651 peter 2012-03-25T05:35:45Z human_phenotype owl:Class MONDO:0012578 biolink:NamedThing autism, susceptibility to, 13 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 13|AUTS13 OMIM:610908 owl:Class HGNC:16205 biolink:NamedThing MGME1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0150063 biolink:NamedThing visual system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. tmpte7i6ely_mondo_relaxed.owl visual pathway development|optic pathway development owl:Class MONDO:0100068 biolink:NamedThing SLC10A7-CDG SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen. tmpte7i6ely_mondo_relaxed.owl SLC10A7-Congenital Disorder of Glycosylation|SLC10A7 deficiency 2018-12-14 19:28:28+00:00 owl:Class MONDO:0014223 biolink:NamedThing amyotrophic lateral sclerosis type 19 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene. tmpte7i6ely_mondo_relaxed.owl ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 19|ALS19|amyotrophic lateral sclerosis caused by mutation in ERBB4|amyotrophic lateral sclerosis type 19 DOID:0060210|OMIM:615515|UMLS:C3715155|Orphanet:803 owl:Class MONDO:0005669 biolink:NamedThing black piedra A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft. tmpte7i6ely_mondo_relaxed.owl MESH:D010854|ICD9:111.3|UMLS:C0031898|SCTID:402135006|UMLS:C0153249|EFO:0007171|DOID:12711|SCTID:33666009|ICD10:B36.3 owl:Class MONDO:0043283 biolink:NamedThing silicosiderosis tmpte7i6ely_mondo_relaxed.owl silicosiderosis|siderosilicosis|iron miners lung|hematite miners' lung disease|hematite pneumoconiosis MESH:C537337|GARD:0008372|SCTID:34004002|EFO:1001855|UMLS:C0018929 owl:Class MONDO:0001469 biolink:NamedThing cascade stomach tmpte7i6ely_mondo_relaxed.owl hourglass stricture or stenosis of stomach ICD10:K31.2|UMLS:C0267183|ICD9:537.6|DOID:12234|SCTID:54051005 owl:Class MONDO:0015096 biolink:NamedThing familial hypofibrinogenemia Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. tmpte7i6ely_mondo_relaxed.owl hypofibrinogenemia, familial OMIM:202400|GARD:0002887|ICD10:D68.2|Orphanet:101041|UMLS:CN197419 https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial owl:Class MONDO:0008737 biolink:NamedThing congenital afibrinogenemia Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. tmpte7i6ely_mondo_relaxed.owl factor I deficiency|afibrinogenemia, congenital|hypofibrinogenemia, congenital|afibrinogenemia congenital|afibrinogenemia|familial afibrinogenemia|fibrinogen deficiency Orphanet:335|DOID:2236|ICD10:D68.2|GARD:0005761|NCIT:C98130|MESH:D000347|Orphanet:101041|Orphanet:98880|SCTID:154818001|OMIM:202400 owl:Class MONDO:0016275 biolink:NamedThing adenocarcinoma of cervix uteri A adenocarcinoma that involves the uterine cervix. tmpte7i6ely_mondo_relaxed.owl uterine cervix adenocarcinoma|cervical adenocarcinoma ICD10:C53.8|Orphanet:213772|ICD10:C53.0|ICD10:C53.1 owl:Class GO:0043504 biolink:NamedThing mitochondrial DNA repair The process of restoring mitochondrial DNA after damage. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060455 biolink:NamedThing X-linked congenital hemolytic anemia tmpte7i6ely_mondo_relaxed.owl hemolytic anemia, congenital, X-linked OMIM:301015 owl:Class CHEBI:35740 biolink:NamedThing liposaccharide tmpte7i6ely_mondo_relaxed.owl liposaccharides owl:Class NCBITaxon:9963 biolink:NamedThing Caprinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:374468 biolink:NamedThing Nakaseomyces tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:14654427 ncbi_taxonomy owl:Class NCBITaxon:4893 biolink:NamedThing Saccharomycetaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:44280|NCBITaxon:221665 ncbi_taxonomy owl:Class MONDO:0010380 biolink:NamedThing cataract, ataxia, short stature, and intellectual disability tmpte7i6ely_mondo_relaxed.owl cataracts, ataxia, short stature, and mental retardation|Casm syndrome|cataracts, ataxia, short stature, and intellectual disability|cataract, ataxia, short stature, and intellectual disability|cataract, ataxia, short stature, and mental retardation GARD:0010222|MESH:C535345|OMIM:300619|UMLS:C1845094 owl:Class MONDO:0023575 biolink:NamedThing Krauss Herman Holmes syndrome tmpte7i6ely_mondo_relaxed.owl telecanthus, hypertelorism, strabismus, and pes cavus syndrome GARD:0003143|UMLS:C2931549|MESH:C537618 https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome owl:Class UBERON:0034711 biolink:NamedThing cortical preplate tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36078 biolink:NamedThing cholanoid tmpte7i6ely_mondo_relaxed.owl bile acids and derivatives|cholanoids owl:Class MONDO:0007100 biolink:NamedThing familial amyloid neuropathy Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. tmpte7i6ely_mondo_relaxed.owl amyloidosis transthyretin related|familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|ATTRV30M amyloidosis|hereditary amyloidosis, transthyretin-related|amyloid Neuropathies, familial|amyloid polyneuropathy, familial|Corino de Andrade's disease|transthyretin amyloidosis|transthyretin amyloid neuropathy|familial amyloid neuropathy|ATTRV30M-related amyloidosis|familial amyloid polyneuropathy type I|TTR amyloidosis|TTR amyloid neuropathy|familial transthyretin amyloidosis|familial amyloid polyneuropathy|transthyretin-related hereditary amyloidosis|transthyretin amyloid polyneuropathy|amyloid cardiomyopathy, transthyretin-related|amyloidosis, hereditary, transthyretin-related|familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|paramyloidosis|amyloidosis, leptomeningeal, transthyretin-related ICD10:G63.3*|SCTID:42295001|UMLS:C0206245|Orphanet:85451|GARD:0000656|DOID:0050638|Orphanet:85447|EFO:0004129|ICD10:E85.1+|OMIM:105210|MESH:C567782|NCIT:C84554|ICD9:277.39|DOID:0050761|UMLS:C2751492 owl:Class HGNC:1833 biolink:NamedThing CEBPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043174 biolink:NamedThing Pfeiffer Tietze Welte syndrome tmpte7i6ely_mondo_relaxed.owl sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th GARD:0004308|UMLS:C2931657|MESH:C537891 owl:Class MONDO:0014240 biolink:NamedThing periventricular nodular heterotopia 6 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene. tmpte7i6ely_mondo_relaxed.owl periventricular nodular heterotopia type 6|periventricular nodular heterotopia caused by mutation in ERMARD|PVNH6|ERMARD periventricular nodular heterotopia|periventricular nodular heterotopia 6 Orphanet:98892|OMIM:615544|Orphanet:2149|UMLS:C3809872 owl:Class UBERON:0007142 biolink:NamedThing left internal carotid artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030051 biolink:NamedThing intellectual developmental disorder with autistic features and language delay, with or without seizures tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES|IDDALDS|intellectual developmental disorder with autistic features and language delay, with or without seizures OMIM:618906 owl:Class GO:0015889 biolink:NamedThing cobalamin transport The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl vitamin B12 transport owl:Class MONDO:0020379 biolink:NamedThing early-onset zonular cataract tmpte7i6ely_mondo_relaxed.owl OMIM:609376|OMIM:607304|OMIM:116400|GARD:0001898|ICD10:Q12.0|OMIM:605728|OMIM:613763|OMIM:610019|Orphanet:98995|UMLS:CN207251 https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract owl:Class NCBITaxon:2559587 biolink:NamedThing Riboviria tmpte7i6ely_mondo_relaxed.owl RNA viruses|RNA viruses and viroids GC_ID:1 ncbi_taxonomy owl:Class HGNC:8028 biolink:NamedThing NTHL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002224 biolink:NamedThing malignant ovarian cyst A cystic cancerous tumor arising from the ovary. tmpte7i6ely_mondo_relaxed.owl malignant ovarian cyst (disease)|malignant ovarian cyst|ovarian cyst (disease), malignant UMLS:C0235770|NCIT:C3843|DOID:2145 owl:Class MONDO:0013397 biolink:NamedThing acne inversa, familial, 2 Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene. tmpte7i6ely_mondo_relaxed.owl familial acne inversa caused by mutation in PSENEN|acne inversa, familial, 2|acne inversa, familial, type 2|PSENEN familial acne inversa|ACNINV2|acne inversa, familial, 2, with or without Dowling-Degos disease UMLS:C3151037|OMIM:613736 owl:Class MONDO:0041095 biolink:NamedThing malignant otitis externa caused by Pseudomonas aeruginosa An malignant otitis externa caused by infection with Pseudomonas aeruginosa. tmpte7i6ely_mondo_relaxed.owl malignant otitis externa due to Pseudomonas aeruginosa|Pseudomonas aeruginosa caused malignant otitis externa|Pseudomonas aeruginosa malignant otitis externa|malignant otitis externa caused by Pseudomonas aeruginosa UMLS:C0395818|SCTID:232230009 owl:Class MONDO:0017785 biolink:NamedThing PENS syndrome PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported. tmpte7i6ely_mondo_relaxed.owl papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936|UMLS:CN203735 owl:Class MONDO:0019933 biolink:NamedThing acromegaly Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. tmpte7i6ely_mondo_relaxed.owl Growth hormone excess|somatotroph adenoma|pituitary giant SCTID:74107003|MESH:D000172|OMIM:300943|ICD10:E22.0|MedDRA:10000599|OMIM:102200|GARD:0005725|Orphanet:963|NCIT:C84533|EFO:1001485|UMLS:C0001206|DOID:2449 https://rarediseases.info.nih.gov/diseases/5725/acromegaly owl:Class HP:0031704 biolink:NamedThing Abnormal ear physiology Any functional anomaly of the ear. tmpte7i6ely_mondo_relaxed.owl 2017-12-18 00:20:24+00:00 peter human_phenotype owl:Class HP:0000598 biolink:NamedThing Abnormality of the ear An abnormality of the ear. tmpte7i6ely_mondo_relaxed.owl Abnormality of the ear|Ear anomaly SNOMEDCT_US:275259005|UMLS:C0266589 Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. human_phenotype owl:Class MONDO:0014050 biolink:NamedThing isolated microphthalmia 8 Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene. tmpte7i6ely_mondo_relaxed.owl microphthalmia, isolated 8|isolated microphthalmia 8|isolated microphthalmia caused by mutation in ALDH1A3|MCOP8|microphthalmia, isolated type 8|ALDH1A3 isolated microphthalmia|isolated microphthalmia type 8 OMIM:615113|Orphanet:2542|DOID:0060841|UMLS:C3554524|ICD10:Q11.0 owl:Class MONDO:0019472 biolink:NamedThing extranodal nasal NK/T cell lymphoma Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. tmpte7i6ely_mondo_relaxed.owl reticulosis, malignant|nasal type Extranodal NK/T-cell lymphoma|lethal midline granuloma|NK/T-cell lymphoma|angiocentric T-cell lymphoma|Extranodal NK/T-cell lymphoma, nasal type|NKTCL|nasal T/natural killer-cell lymphoma|Extranodal NK/T lymphoma-nasal ICDO:9719/3|GARD:0013270|Orphanet:86879|ICD10:C86.0|NCIT:C4684|MedDRA:10065855|UMLS:C0392788 owl:Class MONDO:0018873 biolink:NamedThing anterior cutaneous nerve entrapment syndrome Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome. tmpte7i6ely_mondo_relaxed.owl intercostal nerve syndrome|ACNES|rectus abdominis syndrome Orphanet:51890|UMLS:CN776944|ICD10:G58.0 owl:Class MONDO:0044800 biolink:NamedThing desmoplastic spitz nevus A Spitz nevus associated with fibrous stroma formation. tmpte7i6ely_mondo_relaxed.owl Desmoplastic spitz Nevus NCIT:C82864|SCTID:400022009|UMLS:C1275419 owl:Class MONDO:0001658 biolink:NamedThing nontoxic goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. tmpte7i6ely_mondo_relaxed.owl non-toxic simple goitre|goiter, non-toxic|Nodule-thyroid, non tox|nontoxic goiter|non-toxic goitre|non-toxic goiter|goitre, non-toxic|euthyroid goiter DOID:13195|UMLS:C0221777|NCIT:C35271|ICD10:E04.9|ICD10:E04.0 owl:Class UBERON:0035649 biolink:NamedThing nerve of penis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100251 biolink:NamedThing familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome tmpte7i6ely_mondo_relaxed.owl HHS|PHPTC|tumoral calcinosis, hyperphosphatemic, familial, 1|hyperphosphatemia tumoral calcinosis|hyperphosphatemia hyperostosis syndrome|tumoral calcinosis with hyperphosphatemia|primary hyperphosphatemic tumoral calcinosis|hypercalcemic tumoral calcinosis|familial Teutschlaender disease|hyperphosphatemic familial tumoral calcinosis|hyperphosphatemia hyperostosis|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|hyperostosis with hyperphosphatemia|cortical hyperostosis with hyperphosphatemia|morbus Teutschlaender|HFTC|lipocalcinogranulomatosis UMLS:C1876187|ICD10:M11.2|DOID:0111063|Orphanet:53715|NCIT:C131851|Orphanet:306661|GARD:0010879 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0032766 biolink:NamedThing hypoalphalipoproteinemia, primary, 2 tmpte7i6ely_mondo_relaxed.owl HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2|Apolipoprotein A-I Deficiency|High Density Lipoprotein Deficiency Orphanet:425|OMIM:618463 owl:Class MONDO:0004646 biolink:NamedThing decubitus ulcer Death of tissue due to external pressure. tmpte7i6ely_mondo_relaxed.owl decubitus ulcer, elbow|pressure ulcer|bedsore|decubitus ulcer, other site|pressure sores|decubitus ulcer, lower back|decubitus ulcer|decubitus ulcer, upper back|decubitus ulcer any site|decubitus (pressure) ulcer NCIT:C50706|ICD10:L89|ICD10:L89.9|ICD9:707.00|ICD9:707.0|SCTID:399912005|UMLS:C0011127|EFO:0007067|DOID:8717|MESH:D003668 owl:Class HGNC:26200 biolink:NamedThing STN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016963 biolink:NamedThing partial duplication of the long arm of chromosome 13 Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13. tmpte7i6ely_mondo_relaxed.owl chromosome 13q duplication|partial trisomy 13q|partial trisomy of the long arm of chromosome 13|partial duplication of chromosome 13q|partial duplication of the long arm of chromosome type 13|13q trisomy|13q duplication|trisomy 13q|partial trisomy of chromosome 13q|Duplication 13q 2022-04-01 GARD:0001929|Orphanet:262932 Reason: duplicate. This will be merged with MONDO:0022177 chromosome 13q trisomy owl:Class MONDO:0017628 biolink:NamedThing myospherulosis tmpte7i6ely_mondo_relaxed.owl subcutaneous spherulocystic disease|spherulocytosis Orphanet:306553|SCTID:81139004|UMLS:C0027123|ICD9:136.8 owl:Class GO:2000543 biolink:NamedThing positive regulation of gastrulation Any process that activates or increases the frequency, rate or extent of gastrulation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006162 biolink:NamedThing colorectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl colorectal neuroendocrine tumor G1|colorectal carcinoid tumor|colorectum carcinoid tumor|grade 1 neuroendocrine neoplasm of colorectum|colorectum NET G1|colorectal NET G1|colorectum neuroendocrine tumor, well differentiated, low grade|colorectum neuroendocrine neoplasm G1|large intestinal neuroendocrine tumor G1 UMLS:C3272611|NCIT:C96160|EFO:1000195 owl:Class MONDO:0001947 biolink:NamedThing suppurative thyroiditis Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. tmpte7i6ely_mondo_relaxed.owl acute suppurative thyroiditis|abscess of thyroid|suppurative thyroiditis|infectious thyroiditis NCIT:C129724|DOID:14350|EFO:1001431|ICD10:E06.0|UMLS:C0040150|MESH:D013969|SCTID:25476006 owl:Class MONDO:0020644 biolink:NamedThing lung non-Hodgkin lymphoma A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma. tmpte7i6ely_mondo_relaxed.owl primary lung non-Hodgkin's lymphoma|non-Hodgkin lymphoma of lung|lung non-Hodgkin lymphoma|lung non-Hodgkin's lymphoma UMLS:C1334453|NCIT:C5684 owl:Class SO:0000663 biolink:NamedThing tRNA_encoding A region that can be transcribed into a transfer RNA (tRNA). tmpte7i6ely_mondo_relaxed.owl tRNA encoding owl:Class MONDO:0016574 biolink:NamedThing hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl macules hereditary congenital hypopigmented and hyperpigmented|Westerhof-Beemer-Cormane syndrome|hereditary congenital hypopigmented and hyperpigmented macules|Westerhof Beemer Cormane syndrome|macules, hereditary congenital hypopigmented and hyperpigmented|congenital hypomelanotic and hypermelanotic macules Orphanet:2435|UMLS:C1835172|SCTID:733469003|MESH:C537836|GARD:0003347 https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented owl:Class MONDO:0001768 biolink:NamedThing stenosis of lacrimal passage tmpte7i6ely_mondo_relaxed.owl stenosis of lacrimal canaliculi DOID:13654|ICD10:H04.54|ICD9:375.53|ICD10:H04.549|SCTID:81345003 owl:Class MONDO:0004987 biolink:NamedThing urinary bladder neoplasm A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 tmpte7i6ely_mondo_relaxed.owl bladder tumors|urinary bladder neoplasm (disease)|neoplasm of urinary bladder|bladder tumor|urinary bladder neoplasm|urinary bladder neoplasms|neoplasm of bladder|tumor of the bladder|bladder neoplasm|tumor of bladder|urinary bladder tumor|neoplasm of the urinary bladder|urinary bladder tumors|neoplasm of the bladder|tumor of the urinary bladder|tumor of urinary bladder EFO:0000294|SCTID:126885006|ICD9:239.4|NCIT:C2901|UMLS:C0005695 owl:Class MONDO:0024519 biolink:NamedThing renal hypodysplasia/aplasia 1 tmpte7i6ely_mondo_relaxed.owl renal adysplasia|renal dysplasia, megalocystis, and sirenomelia|renal agenesis|RHDA1|hereditary renal aplasia|renal aplasia|renal hypodysplasia/aplasia 1|Selig Benacerraf Greene syndrome OMIM:191830|GARD:0004791|Orphanet:411709 owl:Class UBERON:0014404 biolink:NamedThing female anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004392 biolink:NamedThing intracranial extraskeletal myxoid chondrosarcoma An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium. tmpte7i6ely_mondo_relaxed.owl intracranial chondrosarcoma|intracranial extraskeletal myxoid chondrosarcoma NCIT:C5462|UMLS:C1334238|DOID:7903 owl:Class UBERON:0011817 biolink:NamedThing skin appendage placode tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001858 biolink:NamedThing Tietze syndrome Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. tmpte7i6ely_mondo_relaxed.owl costochondral junction syndrome|Chondropathia tuberosa|Costalchondritis|Tietze's syndrome|Tietze's disease|costochondral joint syndromic disease|Tietze syndrome|syndromic disease of costochondral joint|Costochondritis|slipping rib syndrome DOID:14021|NCIT:C168333|GARD:0010100|MESH:D013991|SCTID:30128009|ICD9:733.6|ICD10:M94.0|UMLS:C0040213 owl:Class MONDO:0003921 biolink:NamedThing posterior foramen magnum meningioma A meningioma that affects the posterior foramen magnum. tmpte7i6ely_mondo_relaxed.owl meningioma of posterior Foramen magnum|meningioma of the posterior Foramen magnum DOID:6553|NCIT:C5282|UMLS:C1335449 owl:Class HP:0032368 biolink:NamedThing Acidemia An abnormally low blood pH (usually defined as less than 7.35). tmpte7i6ely_mondo_relaxed.owl 2019-02-23 18:37:21+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter human_phenotype owl:Class HGNC:6015 biolink:NamedThing IL4R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003650 biolink:NamedThing mixed hepatoblastoma A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. tmpte7i6ely_mondo_relaxed.owl mixed epithelial and mesenchymal hepatoblastoma ICDO:8970/3|DOID:5789|NCIT:C7097|UMLS:C1334784 owl:Class MONDO:0010112 biolink:NamedThing thalamic degeneration, symmetric infantile tmpte7i6ely_mondo_relaxed.owl symmetrical thalamic degeneration in infants|thalamic degeneration, symmetric infantile|symmetric infantile thalamic degeneration MESH:C536504|GARD:0005160|UMLS:C2931220|Orphanet:3311|OMIM:273490 https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile owl:Class GO:0099118 biolink:NamedThing microtubule-based protein transport A microtubule-based process that results in the transport of proteins. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010882 biolink:NamedThing aphalangy-syndactyly-microcephaly syndrome Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. tmpte7i6ely_mondo_relaxed.owl APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV|Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4|Aphalangia, partial, with syndactyly and Duplication of metatarsal 4|Aphalangia partial with syndactyly and duplication of metatarsal IV MESH:C563942|UMLS:C1838161|OMIM:600384|ICD10:Q87.2|GARD:0000748|Orphanet:1113 https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv owl:Class GO:2000384 biolink:NamedThing negative regulation of ectoderm development Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006803 biolink:NamedThing inferior myocardial infarction Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. tmpte7i6ely_mondo_relaxed.owl UMLS:C0340305|MedDRA:10057546|MESH:D056989|EFO:1000983|DOID:5850 owl:Class MONDO:0010397 biolink:NamedThing severe neonatal-onset encephalopathy with microcephaly An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. tmpte7i6ely_mondo_relaxed.owl severe neonatal encephalopathy due to MECP2 mutations|encephalopathy, neonatal severe, due to MECP2 mutations|severe congenital encephalopathy due to MECP2 mutation Orphanet:209370|OMIM:300673|UMLS:C1968556|ICD10:Q02|MESH:C566878|NCIT:C132293 owl:Class MONDO:0054669 biolink:NamedThing pontocerebellar hypoplasia, type 11 tmpte7i6ely_mondo_relaxed.owl PCH11|pontocerebellar hypoplasia, type 11 OMIM:617695 owl:Class NCBITaxon:780 biolink:NamedThing Rickettsia tmpte7i6ely_mondo_relaxed.owl PMID:10939649|GC_ID:11|PMID:11491333|PMID:14662925|PMID:9103608 ncbi_taxonomy owl:Class MONDO:0022055 biolink:NamedThing Calabro syndrome tmpte7i6ely_mondo_relaxed.owl craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects UMLS:C0796276|MESH:C537960|GARD:0008584 https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome owl:Class CL:1001005 biolink:NamedThing glomerular capillary endothelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001037 cell owl:Class MONDO:0003754 biolink:NamedThing Brown-Sequard syndrome Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. tmpte7i6ely_mondo_relaxed.owl Brown-Squard syndrome|Hemicord syndrome|Hemiparaplegic syndrome|Hemispinal cord syndrome SCTID:27982003|NCIT:C84601|GARD:0005964|DOID:606|EFO:1001279|ICD10:G83.81|MESH:D018437 https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome owl:Class HGNC:9912 biolink:NamedThing RBMY1A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001293 biolink:NamedThing subglottis cancer A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the subglottis|subglottis cancer|malignant subglottic tumor|malignant subglottic neoplasm|malignant tumor of subglottis|cancer of subglottis|malignant subglottis tumor|Ca larynx - subglottis|malignant subglottis neoplasm|malignant tumor of the subglottis|malignant neoplasm of subglottis SCTID:363430007|ICD9:161.2|DOID:11472|NCIT:C3546|ICD10:C32.2|UMLS:C0153485 owl:Class HP:0003073 biolink:NamedThing Hypoalbuminemia Reduction in the concentration of albumin in the blood. tmpte7i6ely_mondo_relaxed.owl Low blood albumin|Low albumin|Hypoalbuminaemia UMLS:C0239981|SNOMEDCT_US:119247004|MSH:D034141 human_phenotype owl:Class HP:0012116 biolink:NamedThing Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormal albumin level UMLS:C4023036 hecht 2012-09-16T05:14:53Z human_phenotype owl:Class MONDO:0011416 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 1 tmpte7i6ely_mondo_relaxed.owl GEFSP1|Gefs+, type 1|generalized epilepsy with febrile seizures plus, type 1 UMLS:C1858672|DOID:0111302|MESH:C565809|Orphanet:36387|OMIM:604233 owl:Class MONDO:0004593 biolink:NamedThing Bartholin duct cyst Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. tmpte7i6ely_mondo_relaxed.owl cyst of Bartholin's gland duct|Bartholin's duct cyst|Bartholin's cyst|cyst of Bartholin's gland UMLS:C0004767|NCIT:C26706|DOID:851|SCTID:57044006|ICD9:616.2|ICD10:N75.0 owl:Class ECTO:0000689 biolink:NamedThing exposure to P450 inhibitor An exposure to P450 inhibitor. tmpte7i6ely_mondo_relaxed.owl exposure to P450 inhibitor owl:Class MONDO:0004451 biolink:NamedThing sarcomatous intrahepatic cholangiocarcinoma A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells. tmpte7i6ely_mondo_relaxed.owl intrahepatic cholangiocarcinoma with extensive sarcomatous changes|sarcomatoid intrahepatic cholangiocarcinoma DOID:8072|NCIT:C41620|UMLS:C1519184 owl:Class CL:0011016 biolink:NamedThing flagellated sperm cell A motile sperm cell that contains a slender threadlike microscopic appendage that enables motion. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0011013 biolink:NamedThing motile sperm cell A sperm cell that is cabaple of motion (motility). tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33285 biolink:NamedThing heteroorganic entity A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. tmpte7i6ely_mondo_relaxed.owl heteroorganic entities|organoelement compounds owl:Class NCBITaxon:91493 biolink:NamedThing Exserohilum tmpte7i6ely_mondo_relaxed.owl Setosphaeria GC_ID:1 NCBITaxon:39952 ncbi_taxonomy owl:Class CL:0000638 biolink:NamedThing acidophil cell of pars distalis of adenohypophysis An acidophilic chromophil cell that of the anterior pituitary gland. tmpte7i6ely_mondo_relaxed.owl acidophil cell of pars anterior of adenohypophysis|pituitary alpha cell|acidophil of pars distalis of adenohypophysis|acidophil of pars anterior of adenohypophysis FMA:83093 cell owl:Class MONDO:0003808 biolink:NamedThing mediastinal extraskeletal osteosarcoma An osteosarcoma arising from the mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinal osteogenic sarcoma|osteogenic sarcoma of mediastinum|osteosarcoma of mediastinum|mediastinal osteosarcoma|mediastinal extraskeletal osteosarcoma|osteosarcoma of the mediastinum|osteogenic sarcoma of the mediastinum|mediastinum osteosarcoma (disease) NCIT:C6615|DOID:6208|UMLS:C1334675 owl:Class MONDO:0017619 biolink:NamedThing congenital sucrase-isomaltase deficiency with minimal starch tolerance tmpte7i6ely_mondo_relaxed.owl congenital sucrose intolerance with minimal starch tolerance|congenital sucrase-isomaltose malabsorption with minimal starch tolerance|disaccharide intolerance with minimal starch tolerance|CSID with minimal starch tolerance Orphanet:306446|ICD10:E74.3 owl:Class MONDO:0002375 biolink:NamedThing sebaceous adenoma A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. tmpte7i6ely_mondo_relaxed.owl adenoma of sebaceous gland|skin appendage sebaceous adenoma|sebaceous gland adenoma|sebaceous adenoma (morphologic abnormality)|adenoma, sebaceous, benign|adenoma of the sebaceous gland DOID:2648|NCIT:C4174|UMLS:C1368816|ICDO:8410/0 owl:Class MONDO:0010311 biolink:NamedThing Becker muscular dystrophy Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. tmpte7i6ely_mondo_relaxed.owl Becker's muscular dystrophy|muscular dystrophy, Becker type|muscular dystrophy pseudohypertrophic progressive, Becker type|benign pseudohypertrophic muscular dystrophy|Becker muscular dystrophy|benign congenital myopathy|BMD|muscular dystrophy, pseudohypertrophic progressive, Becker type|Becker dystrophinopathy MedDRA:10059117|UMLS:C3490459|DOID:9883|SCTID:387732009|OMIM:159050|MESH:C570377|Orphanet:98895|NCIT:C84587|GARD:0005900|ICD10:G71.0|OMIM:300376|UMLS:C0699741 https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy owl:Class MONDO:0018121 biolink:NamedThing mitochondrial DNA maintenance syndrome An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. tmpte7i6ely_mondo_relaxed.owl mtDNA maintenance syndrome|rare inborn error of mitochondrial genome maintenance|inborn error of mitochondrial genome maintenance|inborn mitochondrial genome maintenance disorder Orphanet:352456|UMLS:CN204491 owl:Class HGNC:3036 biolink:NamedThing DSC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0035009 biolink:NamedThing isolated mesenteric vein thrombosis tmpte7i6ely_mondo_relaxed.owl Orphanet:583861 owl:Class MONDO:0010096 biolink:NamedThing tardive dyskinesia tmpte7i6ely_mondo_relaxed.owl tardive dyskinesia|tardive dyskinesia (disease) tardive dyskinesia (disease) SCTID:102449007|UMLS:C0686347|HP:0040141|OMIM:272620 owl:Class MONDO:0006191 biolink:NamedThing endometrial clear cell adenocarcinoma A clear cell adenocarcinoma that involves the endometrium. tmpte7i6ely_mondo_relaxed.owl clear cell carcinoma of endometrium|endometrium clear cell adenocarcinoma|clear cell carcinoma of the endometrium|endometrial clear cell adenocarcinoma EFO:1000231|NCIT:C8028|DOID:5299|UMLS:C0279765 owl:Class MONDO:0006216 biolink:NamedThing gallbladder adenoma A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary. tmpte7i6ely_mondo_relaxed.owl adenoma of the gallbladder|gall bladder adenoma|adenoma of gallbladder|gallbladder adenoma EFO:1000263|DOID:0050893|NCIT:C7720|UMLS:C0238137 owl:Class HGNC:9220 biolink:NamedThing POU4F3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024919 biolink:NamedThing dog disease Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used. tmpte7i6ely_mondo_relaxed.owl canine diseases|dog disease|diseases, Dog|disease, canine|diseases, canine|canine disease|disease, Dog UMLS:C0012979|MESH:D004283 owl:Class CL:0000039 biolink:NamedThing germ line cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. tmpte7i6ely_mondo_relaxed.owl Originally this term had some plant germ line cell children. cell owl:Class MONDO:0016746 biolink:NamedThing meningeal melanocytoma A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative. tmpte7i6ely_mondo_relaxed.owl meninges melanocytoma|melanocytoma of meninges|leptomeningeal melanocytoma|melanocytoma of the meninges DOID:5900|EFO:1000370|ICDO:8728/1|UMLS:C1266113|NCIT:C4662|SCTID:277527003|Orphanet:252046 owl:Class MONDO:0003222 biolink:NamedThing central nervous system melanocytic neoplasm A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion. tmpte7i6ely_mondo_relaxed.owl central nervous system melanocytic tumor|melanocytic tumor of central nervous system|melanocytic tumor of CNS|melanocytic neoplasm of the central nervous system|central nervous system melanocytic neoplasms|primary melanocytic lesions of the CNS|melanocytic tumor of the central nervous system|melanocytic neoplasm of the CNS|central nervous system melanocytic neoplasm|primary melanocytic lesion of meninges|melanocytic neoplasm of CNS|CNS melanocytic neoplasm|CNS melanocytic tumor|melanocytic neoplasm of central nervous system|central nervous system primary melanocytic lesion|melanocytic tumor of the CNS EFO:1000493|NCIT:C5504|UMLS:C1332887|SCTID:277523004|DOID:4955 owl:Class MONDO:0007841 biolink:NamedThing coxopodopatellar syndrome Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. tmpte7i6ely_mondo_relaxed.owl SPS|Coxo-podo-patellar syndrome|congenital coxa vara, patella aplasia and tarsal synostosis|small patella syndrome|patella aplasia, coxa vara, tarsal synostosis|coxopodopatellar syndrome|Scott-Taor syndrome|ICPPS|ischiopatellar dysplasia|ischiocoxopodopatellar syndrome OMIM:147891|GARD:0003030|MESH:C535540|DOID:0111382|UMLS:C1840061|ICD10:Q74.1|Orphanet:1509|SCTID:720752007 owl:Class MONDO:0009048 biolink:NamedThing curved nail of fourth toe tmpte7i6ely_mondo_relaxed.owl curved nail of fourth toe|claw-like fingers and toes OMIM:219070 owl:Class MONDO:0012228 biolink:NamedThing myopia 8 tmpte7i6ely_mondo_relaxed.owl MYP8|myopia 8 OMIM:609257|MESH:C563760|UMLS:C1836505 owl:Class MONDO:0011257 biolink:NamedThing MPI-CDG MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). tmpte7i6ely_mondo_relaxed.owl Mpi deficiency|Slsj syndrome|carbohydrate-deficient glycoprotein syndrome type 1B|SLSJ syndrome|congenital disorder of glycosylation, type IB|carbohydrate deficient glycoprotein syndrome type IB|CDG gastrointestinal type|CDG syndrome type IB|CDG Ib|Protein-losing enteropathy-hepatic fibrosis syndrome|congenital disorder of glycosylation type 1b|Saguenay-Lac Saint-Jean syndrome|CDG 1B|Mannosephosphate isomerase deficiency|CDG-Ib|congenital disorder of glycosylation type IB|CDG, gastrointestinal type|MPI-CDG (CDG-Ib)|Saguenay Lac Saint Jean syndrome|phosphomannose isomerase deficiency|CDG1B DOID:0080554|ICD9:277.6|Orphanet:79319|SCTID:124668009|GARD:0009830|ICD10:E77.8|MESH:C535740|OMIM:602579 owl:Class HGNC:3583 biolink:NamedThing FANCB tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:75767 biolink:NamedThing animal metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. tmpte7i6ely_mondo_relaxed.owl animal metabolites owl:Class MONDO:0010460 biolink:NamedThing syndromic X-linked intellectual disability 17 Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, with alacrima and achalasia|X-linked mental retardation with alacrima and achalasia|intellectual disability-alacrima-achalasia syndrome|X-linked intellectual disability with alacrima and achalasia|mental retardation, X-linked, with alacrima and achalasia|syndromic X-linked intellectual disability type 17|MRXS17|mental retardation, X-linked, syndromic 17|intellectual disability, X-linked, syndromic 17 OMIM:300858|Orphanet:289483|UMLS:C3275460|DOID:0060803 owl:Class GO:0006744 biolink:NamedThing ubiquinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpte7i6ely_mondo_relaxed.owl coenzyme Q biosynthesis|coenzyme Q9 biosynthetic process|coenzyme Q8 biosynthesis|ubiquinone synthesis|coenzyme Q10 biosynthetic process|ubiquinone formation|coenzyme Q10 biosynthesis|coenzyme Q6 biosynthetic process|coenzyme Q9 biosynthesis|coenzyme Q8 biosynthetic process|coenzyme Q biosynthetic process|coenzyme Q6 biosynthesis|ubiquinone anabolism|ubiquinone biosynthesis owl:Class MONDO:0003202 biolink:NamedThing pituitary gland basophilic carcinoma tmpte7i6ely_mondo_relaxed.owl basophilic carcinoma|basophil carcinoma|basophil adenocarcinoma|basophil carcinoma (morphologic abnormality)|pituitary gland basophil carcinoma NCIT:C27392|UMLS:C1704778|DOID:4915 owl:Class MONDO:0017582 biolink:NamedThing pituitary adenocarcinoma A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. tmpte7i6ely_mondo_relaxed.owl pituitary carcinoma|carcinoma of pituitary gland|PTCA|cancer of pituitary gland|carcinoma of the pituitary gland|pituitary gland cancer|cancer of the pituitary|pituitary gland carcinoma|cancer of pituitary|pituitary gland adenocarcinoma|carcinoma of the pituitary|carcinoma of pituitary|pituitary adenocarcinoma (disease)|cancer of the pituitary gland pituitary adenocarcinoma (disease) SCTID:254955001|Orphanet:300385|ICD10:C75.1|HP:0011763|ICDO:8272/3|UMLS:C0346300|NCIT:C4536|ONCOTREE:PTCA|DOID:4916 owl:Class GO:0043393 biolink:NamedThing regulation of protein binding Any process that modulates the frequency, rate or extent of protein binding. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016400 biolink:NamedThing infrapatellar fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002863 biolink:NamedThing rhabdomyosarcoma with mixed embryonal and alveolar features A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma. tmpte7i6ely_mondo_relaxed.owl mixed alveolar rhabdomyosarcoma|mixed type alveolar rhabdomyosarcoma|mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|mixed type rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features DOID:4065|NCIT:C4259|UMLS:C1709053|UMLS:C0334481|ICDO:8902/3 owl:Class GO:0098962 biolink:NamedThing regulation of postsynaptic neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014756 biolink:NamedThing tremor, hereditary essential, 5 Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene. tmpte7i6ely_mondo_relaxed.owl essential tremor caused by mutation in TENM4|ETM5|tremor, hereditary essential, 5|tremor, hereditary essential, type 5|tremor, hereditary essential, 5; ETM5|TENM4 essential tremor DOID:0111432|UMLS:C4225223|OMIM:616736 owl:Class HP:0010990 biolink:NamedThing Abnormality of the common coagulation pathway An abnormality of blood coagulation, common pathway. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023609 The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. peter 2011-02-08T04:31:53Z human_phenotype owl:Class MONDO:0002230 biolink:NamedThing ovarian Wilms tumor An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. tmpte7i6ely_mondo_relaxed.owl ovary Wilms tumor|ovarian Wilms' tumor|ovarian Wilms tumor|ovarian Wilms' cancer UMLS:C1518746|DOID:2153|NCIT:C40443 owl:Class MONDO:0016048 biolink:NamedThing isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. tmpte7i6ely_mondo_relaxed.owl SCTID:722008003|ICD10:E83.4|UMLS:CN200728|Orphanet:199326 owl:Class MONDO:0017626 biolink:NamedThing familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. tmpte7i6ely_mondo_relaxed.owl ICD10:E83.4|UMLS:CN227164|Orphanet:306522 owl:Class MONDO:0008275 biolink:NamedThing familial expansile osteolysis tmpte7i6ely_mondo_relaxed.owl McCabe disease|expansile osteolysis, familial|familial expansile osteolysis|hereditary expansile polyostotic osteolytic dysplasia|HEPOD|osteolysis, familial expansile|FEO|EOF|Mccabe disease|polyostotic osteolytic dysplasia, hereditary expansile ICD10:M89.5|DOID:0111542|MESH:C536335|Orphanet:85195|ICD9:756.9|OMIM:174810|GARD:0009168|SCTID:254153009 owl:Class MONDO:0003884 biolink:NamedThing lipoma of the rectum A benign adipose tissue neoplasm of the rectum. tmpte7i6ely_mondo_relaxed.owl lipoma of rectum|rectum lipoma|rectal lipoma DOID:6459|NCIT:C5551|UMLS:C1335684 owl:Class MONDO:0000715 biolink:NamedThing lymph node adenoid cystic carcinoma A adenoid cystic carcinoma that involves the lymph node. tmpte7i6ely_mondo_relaxed.owl lymph node adenoid cystic cancer|lymph node adenoid cystic carcinoma DOID:0060219 owl:Class MONDO:0005605 biolink:NamedThing transitional cell papilloma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. tmpte7i6ely_mondo_relaxed.owl transitional papilloma|papilloma, transitional cell, benign|transitional cell papilloma|transitional cell papilloma NOS (morphologic abnormality)|transitional cell papilloma, benign|transitional cell papilloma, benign (morphologic abnormality) DOID:2670|ICDO:8120/0|EFO:0006497|NCIT:C4115|UMLS:C0334266 owl:Class NCBITaxon:6194 biolink:NamedThing Opisthorchiata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6193 biolink:NamedThing Opisthorchiida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003872 biolink:NamedThing ovarian papillary cystadenoma A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. tmpte7i6ely_mondo_relaxed.owl ovarian papillary cystadenoma DOID:6405|UMLS:C1335175|NCIT:C7278 owl:Class MONDO:0010525 biolink:NamedThing neural tube defects, X-linked tmpte7i6ely_mondo_relaxed.owl neural tube defects, X-linked|X-linked anencephaly/spina bifida|spina bifida, X-linked|anencephaly and spina bifida X-linked Orphanet:268357|GARD:0000669|Orphanet:823|OMIM:301410|MESH:C536359|UMLS:C1845026 https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked owl:Class MONDO:0020517 biolink:NamedThing eosinophilic granuloma A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. tmpte7i6ely_mondo_relaxed.owl eosinophilic granuloma|eosinophilic xanthomatous granuloma|unifocal Langerhans cell histiocytosis|Monostotic Langerhans cell histiocytosis|chronic and localized Langerhans cell histiocytosis|chronic unifocal Langerhans cell histiocytosis MedDRA:10014956|ICD10:C96.6|ICDO:9752/1|MESH:D004803|UMLS:C0014461|SCTID:129000002|ICD9:277.89|NCIT:C3016|Orphanet:99871 owl:Class MONDO:0006815 biolink:NamedThing jejunal cancer A malignant neoplasm involving the jejunum. tmpte7i6ely_mondo_relaxed.owl cancer of jejunum|malignant neoplasm of jejunum|jejunum cancer|malignant jejunum neoplasm|malignant tumor of jejunum SCTID:363404008|DOID:13499|ICD9:152.1|UMLS:C0153427|MESH:D007580|ICD10:C17.1|MedDRA:10023166|EFO:1000998 owl:Class GO:0015698 biolink:NamedThing inorganic anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014125 biolink:NamedThing symphalangism, proximal, 1B Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. tmpte7i6ely_mondo_relaxed.owl symphalangism, proximal, 1B|SYM1B|GDF5 proximal symphalangism (disease)|symphalangism, proximal, type 1B|proximal symphalangism (disease) caused by mutation in GDF5 OMIM:615298|UMLS:C3809104|Orphanet:3250 owl:Class MONDO:0019390 biolink:NamedThing Susac syndrome Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. tmpte7i6ely_mondo_relaxed.owl SICRET syndrome|Retinocochleocerebral vasculopathy|RED-M|retinopathy-encephalopathy-deafness associated with microangiopathy|small infarctions of cochlear, retinal and encephalic tissue|SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome Orphanet:838|EFO:1001856|NCIT:C116363|ICD10:I67.7|SCTID:702575003|MedDRA:10071573|MESH:D055955|UMLS:C2717757|GARD:0007713|ICD9:348.39 https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome owl:Class NCBITaxon:451871 biolink:NamedThing Eurotiomycetidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014210 biolink:NamedThing intellectual disability-hypotonia-spasticity-sleep disorder syndrome tmpte7i6ely_mondo_relaxed.owl MRT37|intellectual disability, autosomal recessive type 37|intellectual disability, autosomal recessive 37|mental retardation, autosomal recessive 37|mental retardation, autosomal recessive type 37 OMIM:615493|UMLS:C3809672|ICD10:G93.8|Orphanet:356996 owl:Class HGNC:2932 biolink:NamedThing DMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011124 biolink:NamedThing spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with abnormal dentition|SEMDAD MESH:C566644|UMLS:C1866507|ICD10:Q77.7|OMIM:601668|Orphanet:168451 owl:Class MONDO:0014965 biolink:NamedThing lethal congenital contracture syndrome 11 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene. tmpte7i6ely_mondo_relaxed.owl lethal congenital contracture syndrome 11|lethal congenital contracture syndrome caused by mutation in GLDN|GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome 11; LCCS11|lethal congenital contracture arthrogryposis-11|LCCS11|lethal congenital contracture syndrome type 11 GARD:0013220|OMIM:617194|UMLS:C4310670 owl:Class MONDO:0008139 biolink:NamedThing OSLAM syndrome OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. tmpte7i6ely_mondo_relaxed.owl osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|OSLAM syndrome MESH:C537138|GARD:0004129|SCTID:733064004|UMLS:C1833792|OMIM:165660|Orphanet:2760|ICD10:C41.9 owl:Class MONDO:0010461 biolink:NamedThing syndromic X-linked intellectual disability Nascimento type X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability-nail dystrophy-seizures syndrome|mental retardation, X-linked, syndromic, Nascimento type|X-linked intellectual disability, Nascimento type|intellectual disability, X-linked, syndromic, Nascimento type|intellectual disability, X-linked, syndromic 30|intellectual disability, X-linked syndromic, Nascimento-type|mental retardation, X-linked, syndromic 30|MRXSN|mental retardation, X-linked syndromic, Nascimento-type|syndromic X-linked intellectual disability Nascimento type OMIM:300860|UMLS:C3275464|Orphanet:163956|ICD10:Q87.8|DOID:0060820 owl:Class MONDO:0013454 biolink:NamedThing Leber congenital amaurosis 11 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis caused by mutation in IMPDH1|Leber congenital amaurosis 11|LCA11|Leber congenital amaurosis type 11|amaurosis congenita of Leber, type 11|IMPDH1 Leber congenital amaurosis ICD10:H35.5|HGNC:6052|UMLS:C1840284|DOID:0110216|OMIM:613837|GARD:0010488|MESH:C564140 https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11 owl:Class NCBITaxon:2732423 biolink:NamedThing Arfiviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017309 biolink:NamedThing neonatal Marfan syndrome Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. tmpte7i6ely_mondo_relaxed.owl neonatal MFS ICD10:Q87.4|UMLS:CN202885|SCTID:763839005|Orphanet:284979|UMLS:CN536247 owl:Class MONDO:0007947 biolink:NamedThing Marfan syndrome A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. tmpte7i6ely_mondo_relaxed.owl MFS1|Marfan syndrome type 1|Marfan syndrome|Marfan's syndrome|Marfan syndrome, type 1|MFS NCIT:C34807|MedDRA:10026829|OMIM:610168|DOID:14323|MESH:D008382|UMLS:C0024796|ICD9:759.82|ICD10:Q87.4|SCTID:19346006|Orphanet:558|GARD:0006975|Orphanet:284963|UMLS:CN202883|ICD10:Q87.40|OMIM:154700 Contractural arachnodactyly https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome|https://github.com/monarch-initiative/mondo/issues/3155 owl:Class MONDO:0019726 biolink:NamedThing type II mixed cryoglobulinemia Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). tmpte7i6ely_mondo_relaxed.owl MC type II UMLS:CN206633|ICD10:D89.1|Orphanet:93554 owl:Class MONDO:0007407 biolink:NamedThing Cryoglobulinemic vasculitis Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. tmpte7i6ely_mondo_relaxed.owl mixed cryoglobulinemia|essential cryoglobulinemia|primary cryoglobulinemia|Meltzer syndrome|familial mixed cryoglobulinemia|MC|cryoglobulinemia, familial mixed|essential mixed cryoglobulinemia ICD9:273.2|UMLS:C0343208|UMLS:C0340992|MESH:C565141|SCTID:190815001|UMLS:C0272258|ICD10:D89.1|GARD:0006386|MedDRA:10027756|OMIM:123550|UMLS:C1852456|Orphanet:91138 owl:Class MONDO:0004932 biolink:NamedThing null-cell leukemia tmpte7i6ely_mondo_relaxed.owl null cell acute lymphoblastic leukemia SCTID:277574007|DOID:9954|UMLS:C0023483 owl:Class MONDO:0014646 biolink:NamedThing Zimmermann-Laband syndrome 2 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. tmpte7i6ely_mondo_relaxed.owl ATP6V1B2 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome type 2|Zimmermann-Laband syndrome caused by mutation in ATP6V1B2|ZLS2|Zimmermann-Laband syndrome 2 Orphanet:3473|OMIM:616455|UMLS:C4225321 owl:Class CHEBI:27369 biolink:NamedThing zwitterion A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). tmpte7i6ely_mondo_relaxed.owl zwitteriones|compuestos zwitterionicos|zwitterion|zwitterionic compounds|compose zwitterionique|zwitterions owl:Class GO:0031304 biolink:NamedThing intrinsic component of mitochondrial inner membrane The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to mitochondrial inner membrane owl:Class MONDO:0016380 biolink:NamedThing acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. tmpte7i6ely_mondo_relaxed.owl hypertrichosis lanuginosa, acquired ICD10:L68.1|Orphanet:2221|GARD:0002864|SCTID:25967007|UMLS:CN201274 https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired owl:Class GO:0017144 biolink:NamedThing drug metabolic process The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice. tmpte7i6ely_mondo_relaxed.owl drug metabolism owl:Class GO:0031400 biolink:NamedThing negative regulation of protein modification process Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpte7i6ely_mondo_relaxed.owl down-regulation of protein modification|down regulation of protein modification|inhibition of protein modification|downregulation of protein modification owl:Class MONDO:0032663 biolink:NamedThing developmental and epileptic encephalopathy, 70 tmpte7i6ely_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70|EIEE70|DEE70|epileptic encephalopathy, early infantile, 70 OMIM:618298 owl:Class HGNC:18145 biolink:NamedThing PHF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004045 biolink:NamedThing pediatric intraocular retinoblastoma Retinoblastoma during childhood that has not spread beyond the eye. tmpte7i6ely_mondo_relaxed.owl childhood intraocular retinoblastoma|intraocular retinoblastoma|pediatric intraocular retinoblastoma|intraocular retinoblastoma of childhood NCIT:C9047|UMLS:C1321869|DOID:6938 owl:Class MONDO:0003077 biolink:NamedThing intraocular retinoblastoma Retinoblastoma restricted to local involvement. tmpte7i6ely_mondo_relaxed.owl intraocular retinoblastoma DOID:4653|NCIT:C7846|UMLS:C0278717 owl:Class MONDO:0010885 biolink:NamedThing angiokeratoma corporis diffusum with arteriovenous fistulas tmpte7i6ely_mondo_relaxed.owl angiokeratoma corporis diffusum with arteriovenous fistulas MESH:C563940|OMIM:600419|UMLS:C1838141 owl:Class MONDO:0022140 biolink:NamedThing Charles bonnet syndrome Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized. tmpte7i6ely_mondo_relaxed.owl charles bonnet syndrome|CBS SCTID:193756007|UMLS:C0339731|GARD:0010343 https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome owl:Class MONDO:0004680 biolink:NamedThing primary thrombocytopenia tmpte7i6ely_mondo_relaxed.owl ICD10:D69.49|ICD10:D69.4|ICD9:287.3|ICD9:287.30|DOID:8925|ICD9:287.39|UMLS:C0701157|SCTID:267534000 owl:Class MONDO:0017836 biolink:NamedThing erythrokeratoderma en cocardes Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Degos genodermatosis "en cocardes"|erythrokeratoderma ''en cocardes''|Degos genodermatosis 'en cocardes'|Degos genodermatosis|erythrokeratoderma 'en cocardes'|Degos 'en cocarde' erythrokeratoderma|erythrokeratoderma "en cocardes" ICD9:447.8|Orphanet:315|ICD10:Q82.8|GARD:0001722|SCTID:239062001|UMLS:CN203813 https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma owl:Class MONDO:0007367 biolink:NamedThing febrile seizures, familial, 1 tmpte7i6ely_mondo_relaxed.owl FEB1|convulsions, familial febrile|convulsions, familial febrile, 1|febrile seizures, familial, 1 OMIM:121210|ICD9:780.39|UMLS:C1852577|DOID:0111307|MESH:C565162|SCTID:230432008 owl:Class GO:0048241 biolink:NamedThing epinephrine transport The directed movement of epinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl adrenaline transport owl:Class MONDO:0007648 biolink:NamedThing hereditary diffuse gastric adenocarcinoma An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations. tmpte7i6ely_mondo_relaxed.owl diffuse gastric cancer|familial diffuse cancer of stomach|hereditary diffuse cancer of stomach|signet ring gastric carcinoma|gastric cancer, familial diffuse|HDGC|hereditary diffuse gastric adenocarcinoma|signet cell adenocarcinoma|breast cancer, lobular|FDGC|signet ring cell gastric carcinoma|familial diffuse gastric cancer|gastric cancer, hereditary diffuse|gastric cancer, familial diffuse, and cleft lip with or without cleft palate|hereditary diffuse gastric cancer GARD:0010334|DOID:0080763|NCIT:C43295|OMIM:137215|UMLS:C1708349|SCTID:716859000|Orphanet:26106|ICD10:C16.9|GARD:0010900 Editor note: consider renaming to be consistent with NCIT:C43295; also check GARD https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer owl:Class MONDO:0001045 biolink:NamedThing intestinal atresia A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. tmpte7i6ely_mondo_relaxed.owl congenital intestinal atresia|atresia of the intestine|intestinal atresia (disease)|intestinal atresia intestinal atresia (disease) DOID:10486|UMLS:C0021828|ICD10:Q41.1|HP:0011100|NCIT:C84790 owl:Class MONDO:0006739 biolink:NamedThing Ehrlich tumor carcinoma A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. tmpte7i6ely_mondo_relaxed.owl Ehrlich's tumor EFO:1000913|DOID:5050|UMLS:C0007125|MESH:D002286 owl:Class MONDO:0022432 biolink:NamedThing alves Castelo dos Santos syndrome tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract MESH:C536593 owl:Class MONDO:0013744 biolink:NamedThing cataract 37 A cataract that has material basis in variation in the region 12q24.2-q24.3. tmpte7i6ely_mondo_relaxed.owl cataract type 37|cataract 37|CCA5|congenital cataract cerulean type 5|cataract, congenital, cerulean type, 5|CTRCT37 DOID:0110252|UMLS:C3280758|ICD10:Q12.0|Orphanet:98989|OMIM:614422 owl:Class NCBITaxon:1129771 biolink:NamedThing Leptotrichiaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0097529 biolink:NamedThing myeloid leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003980 biolink:NamedThing schwannoma of jugular foramen A rare intracranial schwannoma that affects the jugular foramen. tmpte7i6ely_mondo_relaxed.owl jugular foramen schwannoma|neurilemmoma of the jugular Foramen|jugular Foramen neurilemmoma|neurilemmoma of jugular Foramen|schwannoma of the jugular Foramen UMLS:C1334300|DOID:6735|NCIT:C5323 owl:Class MONDO:0020144 biolink:NamedThing cerebrovascular dementia tmpte7i6ely_mondo_relaxed.owl rare cerebrovascular dementia Orphanet:98549 owl:Class MONDO:0009474 biolink:NamedThing isovaleric acid, inability to smell tmpte7i6ely_mondo_relaxed.owl isovaleric acid, inability to smell OMIM:243450 owl:Class MONDO:0032806 biolink:NamedThing trichothiodystrophy 7, nonphotosensitive tmpte7i6ely_mondo_relaxed.owl TTD7|TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE OMIM:618546 owl:Class MONDO:0019758 biolink:NamedThing midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. tmpte7i6ely_mondo_relaxed.owl middle interhemispheric fusion variant|MIHF|MIHV|Syntelencephaly|middle interhemispheric variant of holoprosencephaly|MIH|MIH type HPE OMIM:157170|OMIM:609637|Orphanet:93926|ICD10:Q04.2|OMIM:610829|UMLS:CN206692 owl:Class MONDO:0007451 biolink:NamedThing diabetes insipidus, nephrogenic, autosomal tmpte7i6ely_mondo_relaxed.owl diabetes insipidus, nephrogenic, autosomal|diabetes insipidus, nephrogenic, type 2 OMIM:125800|Orphanet:223|UMLS:C1563706 owl:Class MONDO:0013186 biolink:NamedThing Noonan syndrome 6 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. tmpte7i6ely_mondo_relaxed.owl Noonan syndrome 6|Noonan syndrome caused by mutation in NRAS|NRAS gene related Noonan syndrome|NRAS Noonan syndrome|NS6|Noonan syndrome type 6 Orphanet:648|GARD:0010701|UMLS:C2750732|DOID:0060584|OMIM:613224|MESH:C548084 https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6 owl:Class MONDO:0014195 biolink:NamedThing microcornea-myopic chorioretinal atrophy tmpte7i6ely_mondo_relaxed.owl MMCAT syndrome|microcornea-myopic chorioretinal atrophy-telecanthus syndrome|microcornea, myopic chorioretinal atrophy, and telecanthus|microcornea-myopic chorioretinal atrophy|MMCAT UMLS:C3809567|OMIM:615458|Orphanet:369970|ICD10:Q15.8 owl:Class MONDO:0003891 biolink:NamedThing bladder signet ring cell adenocarcinoma A signet ring cell carcinoma that involves the urinary bladder. tmpte7i6ely_mondo_relaxed.owl signet Ring cell adenocarcinoma of the urinary bladder|urinary bladder signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of urinary bladder|signet ring cell adenocarcinoma of bladder|signet Ring cell adenocarcinoma of the bladder|signet Ring cell adenocarcinoma of bladder|urinary bladder signet ring cell carcinoma|bladder signet ring cell adenocarcinoma DOID:6481|UMLS:C1332563|NCIT:C6163 owl:Class CHEBI:79388 biolink:NamedThing divalent inorganic anion Any inorganic anion with a valency of two. tmpte7i6ely_mondo_relaxed.owl divalent inorganic anions owl:Class MONDO:0012548 biolink:NamedThing Kostmann syndrome Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. tmpte7i6ely_mondo_relaxed.owl severe congenital neutropenia type 3|SCN3|neutropenia, severe congenital, 3, autosomal recessive|Kostmann disease|agranulocytosis infantile|infantile agranulocytosis|agranulocytosis, infantile|severe congenital neutropenia autosomal recessive 3 GARD:0000302|Orphanet:99749|UMLS:CN032247|ICD10:D70|OMIM:610738 owl:Class MONDO:0011653 biolink:NamedThing thyroid cancer, nonmedullary, 3 tmpte7i6ely_mondo_relaxed.owl NMTC3|thyroid cancer, nonmedullary, 1, formerly|thyroid cancer, nonmedullary, 3|thyroid cancer, nonmedullary, 1 Orphanet:319487|OMIM:606240|UMLS:C1853488 owl:Class MONDO:0017948 biolink:NamedThing ABetaA21G amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. tmpte7i6ely_mondo_relaxed.owl ABetaA21G-related amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Flemish type|HCHWA, Flemish type|ABeta amyloidosis, Flemish type|cerebral amyloid angiopathy, APP-related, Flemish variant ICD10:I68.0*|OMIM:605714|ICD10:E85.4+|Orphanet:324718 owl:Class HP:0040194 biolink:NamedThing Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. tmpte7i6ely_mondo_relaxed.owl Increased head circumference UMLS:C4083076 human_phenotype owl:Class HP:0000240 biolink:NamedThing Abnormality of skull size Any abnormality of the size of the skull. tmpte7i6ely_mondo_relaxed.owl Abnormality of head size|Abnormality of cranium size|Abnormality of skull size UMLS:C4025874 human_phenotype owl:Class MONDO:0002715 biolink:NamedThing uterine cancer Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. tmpte7i6ely_mondo_relaxed.owl uterus cancer|uterine cancer|uterine tumor|malignant neoplasm of uterus|malignant uterine tumor|uterus neoplasm|neoplasm of uterus|malignant uterine neoplasm|tumour of uterus|malignant tumor of the uterus|cancer of the uterus|CA - cancer of uterus|malignant tumor of uterus|cancer of uterus|malignant neoplasm of the uterus|malignant uterus neoplasm NCIT:C3552|SCTID:126908007|ICD10:C55|NCIT:C3435|MESH:D014594|SCTID:371973000|DOID:363|ICD9:179 owl:Class MONDO:0026732 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 9 tmpte7i6ely_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9|CHNG9 OMIM:301035 owl:Class MONDO:0020835 biolink:NamedThing methemoglobinemia, alpha type tmpte7i6ely_mondo_relaxed.owl methemoglobinemia, alpha type OMIM:617973 owl:Class MONDO:0015817 biolink:NamedThing aggressive primary cutaneous T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl Orphanet:178551 owl:Class HP:0002198 biolink:NamedThing Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. tmpte7i6ely_mondo_relaxed.owl Enlarged fourth ventricle UMLS:C1847117 HP:0007223 human_phenotype owl:Class CHEBI:59871 biolink:NamedThing D-alpha-amino acid zwitterion Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpte7i6ely_mondo_relaxed.owl D-alpha-amino acid zwitterions|a D-alpha-amino acid owl:Class MONDO:0010390 biolink:NamedThing ocular albinism with late-onset sensorineural deafness Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. tmpte7i6ely_mondo_relaxed.owl ocular albinism with sensorineural deafness|albinism, ocular, with late-onset sensorineural deafness|albinism ocular late onset sensorineural deafness|deafness and ocular albinism|OASD UMLS:C1845069|Orphanet:1000|SCTID:722054007|OMIM:300650|GARD:0000592|ICD10:E70.3 owl:Class ECTO:9001627 biolink:NamedThing exposure to inorganic acid An exposure to inorganic acid. tmpte7i6ely_mondo_relaxed.owl exposure to inorganic acid owl:Class HGNC:6182 biolink:NamedThing ITPR3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0034109 biolink:NamedThing congenital myopathy with reduced type 2 muscle fibers tmpte7i6ely_mondo_relaxed.owl Orphanet:544602|OMIM:618414 owl:Class MONDO:0018687 biolink:NamedThing progressive muscular atrophy A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. tmpte7i6ely_mondo_relaxed.owl progressive spinal muscular atrophy|PMA|pure progressive muscular atrophy SCTID:88923002|DOID:318|ICD9:335.21|NCIT:C85027|Orphanet:454706|MESH:D009134|EFO:0008864|ICD10:G12.21|ICD10:G12.2|UMLS:C0917981 owl:Class UBERON:0012274 biolink:NamedThing columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060491 biolink:NamedThing neurodevelopmental disorder with involuntary movements tmpte7i6ely_mondo_relaxed.owl NEDIM|neurodevelopmental disorder with involuntary movements OMIM:617493 Editor note: todo - check orphanet xref owl:Class MONDO:0006152 biolink:NamedThing colon inflammatory polyp A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis. tmpte7i6ely_mondo_relaxed.owl inflammatory polyp of colon|colonic inflammatory polyp|inflammatory polyp of the colon UMLS:C0267392|EFO:1000184|NCIT:C5517 owl:Class MONDO:0003688 biolink:NamedThing well differentiated papillary mesothelioma A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma. tmpte7i6ely_mondo_relaxed.owl well-differentiated papillary tumor of mesothelium|well-differentiated papillary neoplasm of mesothelium|well differentiated papillary mesothelioma|well-differentiated mesothelial papillary tumor|well-differentiated mesothelial papillary neoplasm|well-differentiated papillary tumor of the mesothelium|well-differentiated papillary neoplasm of the mesothelium|benign intermediate mesothelioma|benign/Intermediate mesothelioma|WDPM NCIT:C7635|UMLS:C1337012|ICDO:9052/1|DOID:5884 owl:Class MONDO:0032601 biolink:NamedThing inflammatory bowel disease, immunodeficiency, and encephalopathy tmpte7i6ely_mondo_relaxed.owl IBDIMDE|INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY Orphanet:565788|OMIM:618213 owl:Class CL:0000147 biolink:NamedThing pigment cell A pigment cell is a cell that contains pigment granules. tmpte7i6ely_mondo_relaxed.owl chromatophore|chromatocyte VHOG:0001678 cell owl:Class MONDO:0010181 biolink:NamedThing oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. tmpte7i6ely_mondo_relaxed.owl visceral myopathy, familial, with external ophthalmoplegia|visceral myopathy-familial external ophthalmoplegia syndrome|visceral myopathy - familial external ophthalmoplegia|muscular dystrophy, oculogastrointestinal|familial visceral myopathy with external ophthalmoplegia|intestinal pseudoobstruction with external ophthalmoplegia ICD10:G71.0|Orphanet:1876|GARD:0005496|SCTID:722060007|OMIM:277320 owl:Class MONDO:0045045 biolink:NamedThing selective IgG immunodeficiency A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity. tmpte7i6ely_mondo_relaxed.owl IgG deficiency|IgG subclass deficiency|selective IgG immunodeficiency NCIT:C27142|GARD:0010371|UMLS:C0162539|SCTID:12631000119106 owl:Class ENVO:01001143 biolink:NamedThing lava planet A planet which has a surface layer that nearly completely or completely covered by lava, and which has a substantial portion of its mass composed of lava. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016407 biolink:NamedThing oligomeganephronia Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. tmpte7i6ely_mondo_relaxed.owl Oligomeganephronic renal hypoplasia GARD:0004066|GARD:4066|ICD10:Q60.4|Orphanet:2260|UMLS:C0431694|NCIT:C123202|SCTID:18417009|DOID:0111142 owl:Class MONDO:0006841 biolink:NamedThing lymphangioendothelioma A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques. tmpte7i6ely_mondo_relaxed.owl acquired progressive lymphangioma NCIT:C3203|SCTID:403975006|MESH:D008202|EFO:1001026 owl:Class MONDO:0100336 biolink:NamedThing infectious disease or post-infectious disorder A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself. tmpte7i6ely_mondo_relaxed.owl infectious disease or sequela https://orcid.org/0000-0001-5208-3432 owl:Class GO:0086065 biolink:NamedThing cell communication involved in cardiac conduction Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009950 biolink:NamedThing pyruvate kinase deficiency of red cells Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl pyruvate kinase deficiency of erythrocyte|Pk deficiency|pyruvate kinase deficiency of red cells|hemolytic anemia due to red cell pyruvate kinase deficiency|PK deficiency|pyruvate kinase deficiency|pyruvate kinase deficiency of erythrocytes|hemolytic Anemia due to pyruvate Kinase deficiency UMLS:C0340968|DOID:0111077|GARD:0007514|NCIT:C99037|ICD10:D55.2|MESH:C564858|OMIM:266200|Orphanet:766|SCTID:124331002 owl:Class CHEBI:33861 biolink:NamedThing transition element coordination entity tmpte7i6ely_mondo_relaxed.owl transition metal coordination entities|transition element coordination entities|transition metal coordination compounds owl:Class UBERON:0005614 biolink:NamedThing lens anterior epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004785 biolink:NamedThing respiratory system mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008218 biolink:NamedThing Hailey-Hailey disease Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). tmpte7i6ely_mondo_relaxed.owl benign chronic familial pemphigus of Hailey-Hailey|familial benign chronic pemphigus|familial benign pemphigus|benign familial pemphigus|Hailey-Hailey disease|benign chronic pemphigus|BCPM|pemphigus, benign familial UMLS:C0085106|Orphanet:2841|NCIT:C82865|SCTID:79468000|DOID:0050429|ICD10:Q82.8|GARD:0006559|OMIM:169600|MESH:D016506 https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease owl:Class MONDO:0014774 biolink:NamedThing neuroblastoma, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl neuroblastoma, susceptibility to, type 7|NBLST7|neuroblastoma, susceptibility to, 7; NBLST7|neuroblastoma, susceptibility to, 7 OMIM:616792 owl:Class GO:0044062 biolink:NamedThing regulation of excretion Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002755 biolink:NamedThing solitary osseous plasmacytoma A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion. tmpte7i6ely_mondo_relaxed.owl solitary plasmacytoma of bone|isolated osseous plasmacytoma|isolated plasmacytoma of bone|SPB UMLS:C0272256|NCIT:C7812|DOID:3722|ICD9:238.6|SCTID:426336007|ONCOTREE:SPB owl:Class MONDO:0009581 biolink:NamedThing intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl Belgian type mental retardation syndrome|Belgian type intellectual disability syndrome|mental retardation syndrome, Belgian type|intellectual disability syndrome, Belgian type MESH:C537447|SCTID:722454003|Orphanet:3044|ICD10:Q87.8|UMLS:C1855303|GARD:0009811|OMIM:249599 https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome owl:Class MONDO:0017187 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form OMIM:256450|ICD10:E16.1|Orphanet:276598 owl:Class MONDO:0023194 biolink:NamedThing frints de Smet Fabry Fryns syndrome tmpte7i6ely_mondo_relaxed.owl Symbrachydactyly of the hand and foot GARD:0001680|MESH:C538062 https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome owl:Class MONDO:0021808 biolink:NamedThing acute cholinergic dysautonomia A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset. tmpte7i6ely_mondo_relaxed.owl ACD UMLS:C2930973|GARD:0009394|MESH:C535672 https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia owl:Class MONDO:0021809 biolink:NamedThing primary dysautonomia Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate. tmpte7i6ely_mondo_relaxed.owl dysautonomia|Dysautonomias, primary|dysautonomia, primary|Dysautonomias|primary dysautonomia MESH:D054969 owl:Class HP:0100790 biolink:NamedThing Hernia tmpte7i6ely_mondo_relaxed.owl Hernias MSH:D006547|SNOMEDCT_US:414403008|UMLS:C0019270|SNOMEDCT_US:52515009 doelkens 2011-06-08T02:33:37Z human_phenotype owl:Class MONDO:0003506 biolink:NamedThing pulmonary artery choriocarcinoma A rare choriocarcinoma that arises from a pulmonary artery. tmpte7i6ely_mondo_relaxed.owl chorioepithelioma of pulmonary artery|syncytioma of the pulmonary artery|pulmonary artery choriocarcinoma|pulmonary artery choriocarcinoma (disease)|choriocarcinoma of the pulmonary artery|chorioepithelioma of the pulmonary artery|pulmonary artery syncytioma|choriocarcinoma of pulmonary artery|syncytioma of pulmonary artery|pulmonary artery chorioepithelioma DOID:5547|NCIT:C5381|UMLS:C1335571 owl:Class ENVO:01000981 biolink:NamedThing mass liquid flow A process whereby a volume of liquid moves due to a disequilibrium of physical forces. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001747 biolink:NamedThing mass fluid flow tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010000 biolink:NamedThing rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction tmpte7i6ely_mondo_relaxed.owl rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction UMLS:C1849333|MESH:C564829|OMIM:268315 owl:Class CHEBI:33461 biolink:NamedThing phosphorus oxoanion tmpte7i6ely_mondo_relaxed.owl phosphorus oxoanions|phosphorus oxoanion|oxoanions of phosphorus owl:Class CHEBI:33459 biolink:NamedThing pnictogen oxoanion tmpte7i6ely_mondo_relaxed.owl pnictogen oxoanions|pnictogen oxoanion owl:Class HP:0000491 biolink:NamedThing Keratitis Inflammation of the cornea. tmpte7i6ely_mondo_relaxed.owl Corneal inflammation MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568 human_phenotype owl:Class HP:0011495 biolink:NamedThing Abnormal corneal epithelium morphology Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. tmpte7i6ely_mondo_relaxed.owl Abnormality of corneal epithelium UMLS:C4023326 peter 2012-04-03T07:10:49Z human_phenotype owl:Class MONDO:0008650 biolink:NamedThing posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. tmpte7i6ely_mondo_relaxed.owl Faulk Epstein Jones syndrome|familial posterior lumbosacral vertebral fusion and eyelid ptosis|congenital ptosis and posterior fusion of lumbosacral vertebrae|vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis|Faulk-Epstein-Jones syndrome|vertebral fusion posterior lumbosacral blepharoptosis MESH:C536344|ICD10:Q87.5|Orphanet:2064|OMIM:192800|SCTID:724064004|GARD:0005487|UMLS:C1860464|GARD:0002276 https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome owl:Class UBERON:0004760 biolink:NamedThing gland of anal canal tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045650 biolink:NamedThing negative regulation of macrophage differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. tmpte7i6ely_mondo_relaxed.owl inhibition of macrophage differentiation|downregulation of macrophage differentiation|down regulation of macrophage differentiation|down-regulation of macrophage differentiation owl:Class CHEBI:13850 biolink:NamedThing apoprotein An apoprotein is a protein devoid of its characteristic prosthetic group or metal. tmpte7i6ely_mondo_relaxed.owl apoproteins|apoprotein owl:Class HGNC:18704 biolink:NamedThing NAA10 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004444 biolink:NamedThing Spherocytosis The presence of erythrocytes that are sphere-shaped. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:17235000|UMLS:C0553720 Erythrocytes are normally biconcave rather than spherical. peter 2008-03-18T10:05:00Z HP:0004816 human_phenotype owl:Class MONDO:0016165 biolink:NamedThing genetic hypoparathyroidism Genetic hypoparathyroidism. tmpte7i6ely_mondo_relaxed.owl genetic hypoparathyroidism Orphanet:208593 owl:Class MONDO:0000929 biolink:NamedThing balloon cell malignant melanoma A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. tmpte7i6ely_mondo_relaxed.owl balloon cell malignant skin melanoma|balloon cell melanoma|balloon cell skin melanoma|balloon cell cutaneous (skin) melanoma|balloon cell malignant melanoma of the skin|balloon cell malignant melanoma of skin UMLS:C0334426|DOID:10044|NCIT:C4227|SCTID:403922007|ICDO:8722/3 owl:Class MONDO:0016547 biolink:NamedThing Beckwith-Wiedemann syndrome due to NSD1 mutation tmpte7i6ely_mondo_relaxed.owl Orphanet:238613|ICD10:Q87.3|UMLS:CN201629|OMIM:130650 owl:Class MONDO:0007534 biolink:NamedThing Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. tmpte7i6ely_mondo_relaxed.owl exomphalos macroglossia gigantism syndrome|Beckwith-Wiedemann syndrome|EMG syndrome|Wiedemann-Beckwith syndrome|Beckwith-Wiedemann syndrome chromosome region|BWS|exomphalos-macroglossia-gigantism syndrome|Wiedemann-Beckwith syndrome (WBS) UMLS:C0004903|DOID:5572|ICD9:759.89|GARD:0003343|ICD10:Q87.3|Orphanet:116|MedDRA:10050344|SCTID:81780002|MESH:D001506|OMIM:130650|NCIT:C34415 https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome owl:Class MONDO:0033619 biolink:NamedThing myopathy, epilepsy, and progressive cerebral atrophy tmpte7i6ely_mondo_relaxed.owl MEPCA OMIM:619036 owl:Class NCBITaxon:279271 biolink:NamedThing Leptotrombidium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010931 biolink:NamedThing vitamin D-dependent rickets, type 2B Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. tmpte7i6ely_mondo_relaxed.owl vitamin D receptor signaling defect rickets|VDDR2B|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor|vitamin D resistant rickets|vitamin D dependent rickets 2b|vitamin D-dependent rickets type II without alopecia|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia UMLS:C2748783|NCIT:C131076|OMIM:600785|Orphanet:93160|SCTID:237895001 owl:Class HGNC:18640 biolink:NamedThing LDLRAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0001021 biolink:NamedThing CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. tmpte7i6ely_mondo_relaxed.owl CD10-positive common lymphocyte precursor|CD10-positive common lymphocyte progenitor|CD10-positive common lymphoid precursor These markers are associated with human common lymphoid progenitors. Originally described in the dendritic cell ontology (DC_CL:0000032)(PMID:19243617). cell owl:Class CL:0000995 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor tmpte7i6ely_mondo_relaxed.owl CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). cell owl:Class CHEBI:26766 biolink:NamedThing steroid lactone tmpte7i6ely_mondo_relaxed.owl steroid lactones owl:Class HGNC:8617 biolink:NamedThing PAX3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013969 biolink:NamedThing combined oxidative phosphorylation defect type 11 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. tmpte7i6ely_mondo_relaxed.owl Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|COXPD11|combined oxidative phosphorylation deficiency type 11|combined oxidative phosphorylation defect type 11|RMND1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in RMND1|combined oxidative phosphorylation deficiency 11 ICD10:G31.8|DOID:0111481|Orphanet:324535|UMLS:C3554067|OMIM:614922 owl:Class UBERON:0002610 biolink:NamedThing cochlear nuclear complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011734 biolink:NamedThing Cardioneuromyopathy with hyaline masses and nemaline rods tmpte7i6ely_mondo_relaxed.owl Cardioneuromyopathy with hyaline masses and nemaline rods OMIM:606842|UMLS:C1847387|MESH:C564655 owl:Class MONDO:0005505 biolink:NamedThing dysembryoplastic neuroepithelial tumor A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B tmpte7i6ely_mondo_relaxed.owl DNET|DNT|dysembryoplastic neuroepithelial tumor (morphologic abnormality)|dysembryoplastic neuroepithelial neoplasm ONCOTREE:DNT|EFO:0005551|UMLS:C1266177|GARD:0010640|DOID:2679|ICDO:9413/0|SCTID:87211000119104|Orphanet:251946|NCIT:C9505 https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor owl:Class HP:0010674 biolink:NamedThing Abnormality of the curvature of the vertebral column The presence of an abnormal curvature of the vertebral column. tmpte7i6ely_mondo_relaxed.owl Curved spine|Curvature of spine|Abnormal curving of the spine|Abnormal curve of the spine|Abnormal curve of the backbone UMLS:C4023747 sandra1 2010-02-27T06:28:19Z human_phenotype owl:Class MONDO:0018764 biolink:NamedThing microcephalic primordial dwarfism due to RTTN deficiency Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported. tmpte7i6ely_mondo_relaxed.owl OMIM:614833|Orphanet:468631 owl:Class MONDO:0006690 biolink:NamedThing carotid artery thrombosis Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. tmpte7i6ely_mondo_relaxed.owl carotid artery thrombosis EFO:1000853|SCTID:86003009|MESH:D002341|ICD9:433.10|MedDRA:10007688|UMLS:C0007274|DOID:3410 owl:Class MONDO:0012558 biolink:NamedThing epiphyseal dysplasia, Baumann type tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, Baumann type UMLS:C1835830|MESH:C563664|OMIM:610797 owl:Class UBERON:0004941 biolink:NamedThing submucosa of right hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903651 biolink:NamedThing positive regulation of cytoplasmic transport Any process that activates or increases the frequency, rate or extent of cytoplasmic transport. tmpte7i6ely_mondo_relaxed.owl upregulation of cytoplasmic streaming|up-regulation of cytoplasmic transport|upregulation of cytoplasmic transport|positive regulation of cytoplasmic streaming|activation of cytoplasmic transport|activation of cytoplasmic streaming|up regulation of cytoplasmic transport|up regulation of cytoplasmic streaming|up-regulation of cytoplasmic streaming owl:Class CL:0002679 biolink:NamedThing natural helper lymphocyte A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13 tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-08-29T10:08:02Z cell owl:Class MONDO:0001205 biolink:NamedThing hypersecretion glaucoma tmpte7i6ely_mondo_relaxed.owl UMLS:C0154968|SCTID:29369005|ICD9:365.81|DOID:11148|ICD10:H40.82 owl:Class UBERON:0001324 biolink:NamedThing common fibular nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28052 biolink:NamedThing XPNPEP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003282 biolink:NamedThing ovarian cyst tmpte7i6ely_mondo_relaxed.owl cyst, corpus luteum|cyst, ovarian|ovarian cyst|corpus luteum cyst|corpus luteum cysts|cysts, ovarian|cysts, corpus luteum|ovarian cyst (disease) ovarian cyst (disease) MESH:D010048|SCTID:79883001|DOID:5119|ICD9:620.2|HP:0000138|ICD10:N83.2 owl:Class MONDO:0014716 biolink:NamedThing macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome tmpte7i6ely_mondo_relaxed.owl MINDS syndrome|SKS|macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism|Smith-Kingsmore syndrome|SMITH-Kingsmore syndrome|macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism Orphanet:457485|EFO:0009050|UMLS:C4225259|OMIM:616638 owl:Class UBERON:0011846 biolink:NamedThing acinus of sebaceous gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0007373 biolink:NamedThing Motor neuron atrophy Wasting involving the motor neuron. tmpte7i6ely_mondo_relaxed.owl Motor neuron degeneration UMLS:C4024896 peter 2008-04-01T10:39:00Z human_phenotype owl:Class HP:0002450 biolink:NamedThing Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. tmpte7i6ely_mondo_relaxed.owl Abnormal shape of motor neuron UMLS:C4025707 human_phenotype owl:Class HGNC:7448 biolink:NamedThing MTM1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008456 biolink:NamedThing alpha-N-acetylgalactosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides. tmpte7i6ely_mondo_relaxed.owl alpha-acetylgalactosaminidase activity|alpha-NAGA activity|alpha-galactosidase B activity|N-acetyl-alpha-galactosaminidase activity|N-acetyl-alpha-D-galactosaminidase activity|alpha-N-acetyl-D-galactosaminide N-acetylgalactosaminohydrolase activity owl:Class ENVO:01001654 biolink:NamedThing aerosol formation process A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008212 biolink:NamedThing mineralocorticoid metabolic process The chemical reactions and pathways involving mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Mineralocorticoids act primarily on water and electrolyte balance. tmpte7i6ely_mondo_relaxed.owl mineralocorticoid metabolism owl:Class ECTO:9001755 biolink:NamedThing exposure to antimicrobial drug An exposure to antimicrobial drug. tmpte7i6ely_mondo_relaxed.owl exposure to antimicrobial drug owl:Class MONDO:0013799 biolink:NamedThing efavirenz, poor metabolism of tmpte7i6ely_mondo_relaxed.owl efavirenz central nervous system toxicity, susceptibility to|efavirenz, poor metabolism of 2022-04-01 OMIM:614546 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0005823 biolink:NamedThing legionellosis Any disease caused by Legionella bacteria. tmpte7i6ely_mondo_relaxed.owl Legionnaires disease|Legionella infection EFO:0007342|MedDRA:10061266|MESH:D007877|SCTID:26726000|MedDRA:10035718|Orphanet:549|UMLS:C0023240|ICD10:A48.1|UMLS:CN205282|NCIT:C128334|DOID:10458|MESH:D007876 owl:Class MONDO:0004213 biolink:NamedThing vulvar non-keratinizing squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. tmpte7i6ely_mondo_relaxed.owl DOID:7409|NCIT:C40285|UMLS:C1520092 owl:Class MONDO:0006432 biolink:NamedThing stromal predominant kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. tmpte7i6ely_mondo_relaxed.owl stromal predominant nephroblastoma|stromal predominant renal Wilm's tumor|stromal predominant Wilms tumor|stromal predominant renal Wilms tumor|stromal predominant kidney Wilms' tumor|stromal predominant kidney adenosarcoma|stromal predominant renal adenosarcoma|stromal predominant kidney Wilms tumor|stromal predominant renal Wilms' tumor DOID:5191|UMLS:C0279610|EFO:1000551|NCIT:C9148 owl:Class HGNC:9076 biolink:NamedThing PLIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022397 biolink:NamedThing retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene tmpte7i6ely_mondo_relaxed.owl Orphanet:156168 owl:Class MONDO:0010633 biolink:NamedThing iris hypoplasia with glaucoma tmpte7i6ely_mondo_relaxed.owl iris hypoplasia and glaucoma|iris hypoplasia with glaucoma|IHG OMIM:308500|GARD:0009171|MESH:C535538|UMLS:C1839928 https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma owl:Class MONDO:0007237 biolink:NamedThing familial juvenile hypertrophy of the breast Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. tmpte7i6ely_mondo_relaxed.owl juvenile macromastia|hypertrophy of the breast, juvenile|juvenile gigantomastia|JHB|gigantomastia, juvenile|virginal mammary hypertrophy|virginal breast hypertrophy|familial juvenile gigantomastia Orphanet:180176|OMIM:113670|UMLS:CN226754|MESH:C536821|ICD10:N62 owl:Class CL:1000279 biolink:NamedThing smooth muscle cell of large intestine A smooth muscle cell that is part of the large intestine. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of large intestine FMA:15653 cell owl:Class MONDO:0006131 biolink:NamedThing cerebellar liponeurocytoma A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl lipomatous medulloblastoma|CLNC|cerebellar liponeurocytoma (WHO grade II)|lipomatous medulloblastoma (formerly)|cerebellar liponeurocytoma ONCOTREE:CLNC|NCIT:C6905|GARD:0010642|DOID:6458|ICDO:0000/0|UMLS:C1370507|Orphanet:251931|SCTID:716592003|EFO:1000159 https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma owl:Class GO:0036293 biolink:NamedThing response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. tmpte7i6ely_mondo_relaxed.owl response to lowered oxygen levels owl:Class CL:1000278 biolink:NamedThing smooth muscle fiber of ileum A smooth muscle cell that is part of the ileum. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of ileum FMA:15066 cell owl:Class UBERON:0007606 biolink:NamedThing ciliated stratified columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100176 biolink:NamedThing AP-4 deficiency syndrome A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures. tmpte7i6ely_mondo_relaxed.owl AP-4 deficiency syndrome http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:18603 biolink:NamedThing COL25A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011240 biolink:NamedThing megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|megalencephaly-capillary malformation-polymicrogyria syndrome|macrocephaly-capillary malformation|macrocephaly cutis marmorata telangiectatica congenita|MCM|macrocephaly-cutis marmorata telangiectatica congenita|M-CMTC|megalencephaly-cutis marmorata telangiectatica congenita|megalencephaly-cutis marmorata telangiectatica congenita syndrome|MCMTC|megalocephaly cutis marmorata telangiectatica congenita|macrocephaly-capillary malformation syndrome|M-CM|megalencephaly cutis marmorata telangiectatica congenita|MCAP Orphanet:60040|GARD:0006950|OMIM:602501|MESH:C536142|UMLS:C1865285|SCTID:703370002|ICD9:759.89|ICD10:Q87.3 owl:Class SO:0000803 biolink:NamedThing assortment_derived_aneuploid A multi-chromosome aberration generated by reassortment of other aberration components; presumed to have a deficiency or a duplication. tmpte7i6ely_mondo_relaxed.owl assortment derived aneuploid owl:Class SO:0001504 biolink:NamedThing assortment_derived_variation A chromosome variation derived from an event during meiosis. tmpte7i6ely_mondo_relaxed.owl assortment derived variation owl:Class MONDO:0012047 biolink:NamedThing alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia tmpte7i6ely_mondo_relaxed.owl alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia OMIM:608509|UMLS:C1837946|MESH:C563920 owl:Class MONDO:0032662 biolink:NamedThing intellectual developmental disorder, autosomal recessive 67 tmpte7i6ely_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 67|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67|MRT67 OMIM:618295 owl:Class MONDO:0007274 biolink:NamedThing carpal displacement tmpte7i6ely_mondo_relaxed.owl carpal displacement|carpal bossing OMIM:115400|UMLS:C1861847 owl:Class MONDO:0010259 biolink:NamedThing retinitis pigmentosa 24 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. tmpte7i6ely_mondo_relaxed.owl RP24|RP 24|retinitis pigmentosa type 24|retinitis pigmentosa 24 GARD:0010389|DOID:0110416|OMIM:300155|UMLS:C3887982|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24 owl:Class GO:1901292 biolink:NamedThing nucleoside phosphate catabolic process The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate. tmpte7i6ely_mondo_relaxed.owl nucleoside phosphate degradation|nucleoside phosphate catabolism|nucleoside phosphate breakdown owl:Class MONDO:0030906 biolink:NamedThing Trichomonas tenax infectious disease An disease or disorder caused by infection with Trichomonas tenax. tmpte7i6ely_mondo_relaxed.owl Trichomonas tenax caused disease or disorder|Trichomonas tenax disease or disorder|Trichomonas tenax trichomoniasis DOID:0050270 owl:Class MONDO:0008427 biolink:NamedThing sister chromatid exchange, frequency of tmpte7i6ely_mondo_relaxed.owl SCE, frequency of|sister chromatid exchange, frequency of OMIM:182220 owl:Class FOODON:03420236 biolink:NamedThing protein extract, concentrate or isolate Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03420228 biolink:NamedThing extract, concentrate or isolate of plant or animal A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=C0228 Damion Dooley's note: Items in this branch will be merged into foodon food product branch. http://langual.org owl:Class MONDO:0008040 biolink:NamedThing transient myeloproliferative syndrome A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. tmpte7i6ely_mondo_relaxed.owl transient myeloproliferative disease|TMD|leukemia, transient|transient abnormal myelopoiesis|TAM|Mst|MST|transient leukemia|transient myeloproliferative disorder|myeloproliferative syndrome, transient|transient leurkemia of Down syndrome|transient myeloproliferative syndrome|Transient abnormal myelopoiesis associated with Down syndrome|transient myeloproliferative syndrome (disease) transient myeloproliferative syndrome (disease) ICDO:9898/1|GARD:0012765|SCTID:721307000|UMLS:C1834582|NCIT:C82339|ICD10:D47.7|OMIM:159595|MESH:C563551|ONCOTREE:TAM|Orphanet:420611|HP:0005534|DOID:0060888 owl:Class HP:0004374 biolink:NamedThing Hemiplegia/hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. tmpte7i6ely_mondo_relaxed.owl Paralysis or weakness of one side of body UMLS:C0375206 peter 2008-03-18T07:35:00Z human_phenotype owl:Class HP:0001638 biolink:NamedThing Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. tmpte7i6ely_mondo_relaxed.owl Disease of the heart muscle SNOMEDCT_US:85898001|Fyler:1840|SNOMEDCT_US:57809008|UMLS:C0878544|MSH:D009202 human_phenotype owl:Class HGNC:6343 biolink:NamedThing KITLG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012814 biolink:NamedThing diastasis recti and weakness of the linea alba tmpte7i6ely_mondo_relaxed.owl diastasis recti and weakness of the linea alba OMIM:612198|UMLS:C2677303|MESH:C567402 owl:Class MONDO:0009361 biolink:NamedThing autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius tmpte7i6ely_mondo_relaxed.owl aqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635|UMLS:CN074258 owl:Class CL:1000491 biolink:NamedThing mesothelial cell of pleura A mesothelial cell that is part of the pleura. tmpte7i6ely_mondo_relaxed.owl pleural mesothelial cell FMA:86737 cell owl:Class UBERON:0002731 biolink:NamedThing vestibulocochlear nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004830 biolink:NamedThing respiratory system skeletal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0031446 biolink:NamedThing hypercholanemia, familial 1 A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. tmpte7i6ely_mondo_relaxed.owl FHCA1|hereditary hypercholanemia Orphanet:238475|UMLS:C1843139|MESH:C564336|SCTID:723360007|OMIM:607748 owl:Class NCIT:C36887 biolink:NamedThing Neoplastic Connective and Soft Tissue Cell tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031064 biolink:NamedThing Impaired continence Partial or total incontinence of bowel or bladder. tmpte7i6ely_mondo_relaxed.owl 2017-05-28 22:29:13+00:00 peter human_phenotype owl:Class MONDO:0004767 biolink:NamedThing vesiculitis An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. tmpte7i6ely_mondo_relaxed.owl inflammation of seminal vesicle|seminal vesicle inflammation|seminal vesiculitis|seminal Sacs|gland, seminal vesicle|seminal vesicles|seminal vesicle NCIT:C12787|DOID:9365|ICD9:608.0|UMLS:C0042588|SCTID:27001009|ICD10:N49.0 owl:Class MONDO:0011108 biolink:NamedThing Stüve-Wiedemann syndrome A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. tmpte7i6ely_mondo_relaxed.owl Stüve-Wiedemann dysplasia|SJS2|Schwartz-Jampel syndrome neonatal|neonatal Schwartz-Jampel syndrome type 2|Schwartz-Jampel syndrome type 2|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|STUVE-Wiedemann syndrome|Stuve-Wiedemann syndrome|neonatal Schwartz-Jampel syndrome|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|Stws|Stüve-Wiedemann syndrome|Schwartz-Jampel syndrome, type 2|Schwartz-Jampel syndrome, neonatal GARD:0005045|SCTID:254097005|UMLS:C0432240|Orphanet:3206|MESH:C537502|UMLS:C0796176|OMIM:601559|ICD10:Q78.8 owl:Class MONDO:0007279 biolink:NamedThing cataract 7 A cataract that has material basis in variation in the region 17q24. tmpte7i6ely_mondo_relaxed.owl cerulean type cataract 7|cataract type 7|cataract, congenital, cerulean type, 1|CTRCT7|cataract 7|congenital cerulean type cataract 1|CCA1|cataract 7, cerulean type DOID:0110260|ICD10:Q12.0|Orphanet:98989|OMIM:115660 owl:Class MONDO:0017866 biolink:NamedThing subpulmonary stenosis tmpte7i6ely_mondo_relaxed.owl GARD:0005051|SCTID:448476001|ICD10:Q24.3|Orphanet:3190|UMLS:C3165028 https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis owl:Class MONDO:0018463 biolink:NamedThing mild phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. tmpte7i6ely_mondo_relaxed.owl mild PRPP synthetase superactivity|mild PRPS1 superactivity UMLS:CN237443|Orphanet:411536|ICD10:E79.8|OMIM:300661 owl:Class MONDO:0030999 biolink:NamedThing neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism tmpte7i6ely_mondo_relaxed.owl NEDCAFD OMIM:619244 owl:Class MONDO:0003088 biolink:NamedThing intramuscular hemangioma A hemangioma arising from skeletal muscle. tmpte7i6ely_mondo_relaxed.owl intramuscular hemangioma (morphologic abnormality)|intramuscular angioma DOID:468|MESH:D006391|ICDO:9132/0|UMLS:C0205789|NCIT:C3699 owl:Class HGNC:9403 biolink:NamedThing PRKCH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035480 biolink:NamedThing surface of prostate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013844 biolink:NamedThing stuttering, familial persistent, 4 tmpte7i6ely_mondo_relaxed.owl stuttering, familial persistent, 4|STUT4 OMIM:614668|UMLS:C3553403 owl:Class MONDO:0010873 biolink:NamedThing band heterotopia of brain tmpte7i6ely_mondo_relaxed.owl band heterotopia of brain|band heterotopia|BH MESH:C563950|Orphanet:99796|UMLS:C1838239|OMIM:600348 Editor check: TODO owl:Class OBO:CHR_9606-chr7q36 biolink:NamedThing 7q36 (Human) tmpte7i6ely_mondo_relaxed.owl 159345973 148200000 hg38 owl:Class HP:0011563 biolink:NamedThing Abnormal ventriculoarterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. tmpte7i6ely_mondo_relaxed.owl Abnormal ventriculo-arterial connection|Abnormal ventriculoarterial connexion UMLS:C4023296 The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. peter 2012-04-08T07:32:38Z human_phenotype owl:Class MONDO:0013635 biolink:NamedThing Adams-Oliver syndrome 2 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene. tmpte7i6ely_mondo_relaxed.owl Adams-Oliver syndrome 2|Adams-Oliver syndrome caused by mutation in DOCK6|Adams-Oliver syndrome type 2|DOCK6 Adams-Oliver syndrome|AOS2 UMLS:C3280182|OMIM:614219|Orphanet:974 owl:Class MONDO:0018156 biolink:NamedThing 3q26q27 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl Del(3)(q26q27)|3q26-q27microdeletion syndrome|monosomy 3q26q27|monosomy 3q26-q27 UMLS:CN204590|Orphanet:356947|ICD10:Q93.5 owl:Class MONDO:0001144 biolink:NamedThing partial third-nerve palsy tmpte7i6ely_mondo_relaxed.owl third nerve palsy with pupil sparing|third or oculomotor nerve palsy, partial|partial third nerve palsy DOID:10864|UMLS:C0271370|ICD9:378.51|SCTID:194118007|MESH:D015840 owl:Class MONDO:0012361 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl SLEB5|systemic lupus erythematosus, susceptibility to, 5 OMIM:609903 owl:Class HGNC:20151 biolink:NamedThing SLC17A8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013226 biolink:NamedThing combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). tmpte7i6ely_mondo_relaxed.owl Roifman-Chitayat syndrome|combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|ROIFMAN-Chitayat syndrome ICD10:Q87.8|MESH:C567641|UMLS:C2750068|Orphanet:221139|OMIM:613328 owl:Class MONDO:0024430 biolink:NamedThing allesthesia A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus. tmpte7i6ely_mondo_relaxed.owl false allochiria|Alloesthesia|Allesthesias|Alloesthesias|dyschiria|Allachesthesia|allochiria|Dyschirias|Allachesthesias MESH:D066190 owl:Class HGNC:10727 biolink:NamedThing SEMA3E tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004340 biolink:NamedThing Abnormality of vitamin B metabolism tmpte7i6ely_mondo_relaxed.owl Abnormality of B-vitamin metabolism UMLS:C4021659 peter 2008-03-08T08:08:00Z human_phenotype owl:Class HP:0001262 biolink:NamedThing Excessive daytime somnolence A state of abnormally strong desire for sleep during the daytime. tmpte7i6ely_mondo_relaxed.owl More than typical sleepiness during day|Excessive daytime sleepiness SNOMEDCT_US:271782001|UMLS:C2830004|SNOMEDCT_US:79519003 HP:0002189 human_phenotype owl:Class HGNC:29594 biolink:NamedThing UQCRQ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015860 biolink:NamedThing anomaly of puberty or/and menstrual cycle tmpte7i6ely_mondo_relaxed.owl Orphanet:180208 owl:Class MONDO:0009478 biolink:NamedThing combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). tmpte7i6ely_mondo_relaxed.owl autosomal recessive hyper IgE syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|HIES, autosomal recessive|dedicator of cytokinesis 8 deficiency|hyper-IgE recurrent infection syndrome, autosomal recessive|HIES autosomal recessive|hyper-IgE syndrome, autosomal recessive|DOCK8 deficiency|AR hyperimmunoglobulin E syndrome|AR-HIES|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|hyper Ig E syndrome, autosomal recessive|DOCK8 immunodeficiency syndrome|Cid due to DOCK8 deficiency|combined immunodeficiency due to DOCK8 deficiency ICD10:D81.1|NCIT:C126343|OMIM:243700|UMLS:C1968689|Orphanet:217390|GARD:0002816 https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome owl:Class MONDO:0011485 biolink:NamedThing autosomal recessive congenital ichthyosis 5 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13. tmpte7i6ely_mondo_relaxed.owl ichthyosis, lamellar, 3|ichthyosis lamellar 3|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|ichthyosis congenita 3|ARCI5|lamellar ichthyosis, type 3|ichthyosis, congenital, autosomal recessive 5|autosomal recessive congenital ichthyosis 5|ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|LI3, formerly|NNCI|ichthyosis, congenital, autosomal recessive type 5|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|type 3 lamellar ichthyosis|autosomal recessive congenital ichthyosis type 5|ichthyosis congenita III|ichthyosis, lamellar, 3, formerly MESH:C537265|Orphanet:313|OMIM:604777|GARD:0009734|ICD10:Q80.2|DOID:0060714 https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 owl:Class MONDO:0021427 biolink:NamedThing squamous cell carcinoma of lip A squamous cell carcinoma that involves the lip. tmpte7i6ely_mondo_relaxed.owl lip scc|lip squamous cell carcinoma|scc of Lip|scc of the Lip|squamous cell carcinoma of the Lip OMIM:275355|Orphanet:502366|UMLS:C0280302|SCTID:255071008|NCIT:C4042 owl:Class MONDO:0032782 biolink:NamedThing immunodeficiency 63 with lymphoproliferation and autoimmunity tmpte7i6ely_mondo_relaxed.owl IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY|IMD63|Cd122 Deficiency|Interleukin 2 Receptor, Beta, Deficiency of|Il2Rb Deficiency OMIM:618495 owl:Class GO:0016765 biolink:NamedThing transferase activity, transferring alkyl or aryl (other than methyl) groups Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl transferase activity, transferring alkyl or aryl groups, other than methyl groups owl:Class HGNC:4886 biolink:NamedThing HFE tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20422 biolink:NamedThing POLR1D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013352 biolink:NamedThing intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene. tmpte7i6ely_mondo_relaxed.owl FOXP1 related global developmental delay, intellectual disability and speech defects|mental retardation with language impairment and with or without autistic features|intellectual disability with language impairment and with or without autistic features|intellectual disability-severe speech delay-mild dysmorphism syndrome UMLS:CN204965|Orphanet:391372|GARD:0012501|OMIM:613670|UMLS:C3150923|EFO:1001500|DOID:0111331|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome owl:Class MONDO:0004625 biolink:NamedThing phlebitis Inflammation of a vein. tmpte7i6ely_mondo_relaxed.owl vein inflammation|inflammation of vein DOID:864|NCIT:C38003|EFO:1001395|SCTID:61599003|ICD10:I80|MESH:D010689 owl:Class MONDO:0017945 biolink:NamedThing ABetaL34V amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. tmpte7i6ely_mondo_relaxed.owl ABetaL34V-related amyloidosis|ABeta amyloidosis, Piedmont type|HCHWA, Piedmont type|hereditary cerebral hemorrhage with amyloidosis, Piedmont type OMIM:605714|ICD10:I68.0*|Orphanet:324703|ICD10:E85.4+ owl:Class UBERON:0003336 biolink:NamedThing serosa of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3951 biolink:NamedThing FXN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024265 biolink:NamedThing Duane syndrome type 1 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. tmpte7i6ely_mondo_relaxed.owl Drs|retraction syndrome|Duane anomaly|DURS1|Duane retraction syndrome 1|Duane syndrome SCTID:128082002|UMLS:C0013261|GARD:0010763|OMIM:126800|Orphanet:233 https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1 owl:Class MONDO:0011479 biolink:NamedThing postural orthostatic tachycardia syndrome A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. tmpte7i6ely_mondo_relaxed.owl orthostatic intolerance|orthostatic intolerance due to NET deficiency|irritable heart|soldiers heart|postural tachycardia syndrome due to NET deficiency|familial orthostatic tachycardia due to norepinephrine transporter deficiency|Soldiers heart|orhtostatic intolerance|neurocirculatory asthenia OMIM:604715|EFO:1000645|DOID:0111154|ICD10:I95.1|Orphanet:443236|SCTID:8074002 owl:Class MONDO:0010314 biolink:NamedThing polymicrogyria, bilateral perisylvian, X-linked tmpte7i6ely_mondo_relaxed.owl perisylvian syndrome, congenital bilateral|PMGX|polymicrogyria, bilateral perisylvian, X-linked|BPPX|BPP Orphanet:98889|OMIM:300388|Orphanet:268940|SCTID:438583008 owl:Class MONDO:0002802 biolink:NamedThing functional colonic disease Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category. tmpte7i6ely_mondo_relaxed.owl DOID:3877|UMLS:C0009374|MESH:D003109 owl:Class MONDO:0003997 biolink:NamedThing colon Kaposi sarcoma A Kaposi sarcoma arising from the colon. tmpte7i6ely_mondo_relaxed.owl colon Kaposi's sarcoma (disease)|colon Kaposi's sarcoma|Kaposi's sarcoma of the colon|colonic Kaposi sarcoma|Kaposi's sarcoma of colon|colon Kaposi sarcoma|colonic Kaposis sarcoma|colonic Kaposi's sarcoma|colon Kaposis sarcoma|Kaposi's sarcoma (disease) of colon DOID:6804|NCIT:C5516|UMLS:C1333091 owl:Class NCBITaxon:2732405 biolink:NamedThing Duplornaviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010679 biolink:NamedThing Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, Duchenne type|Duchenne muscular dystrophy|DMD|muscular dystrophy, pseudohypertrophic progressive, Duchenne type|muscular dystrophy, Duchenne|severe dystrophinopathy, Duchenne type GARD:0006291|MedDRA:10013801|MESH:D020388|OMIM:310200|NCIT:C75482|SCTID:76670001|ICD10:G71.0|UMLS:C0013264|Orphanet:98896|DOID:11723 https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy owl:Class MONDO:0007666 biolink:NamedThing glaucoma-sleep apnea syndrome Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). tmpte7i6ely_mondo_relaxed.owl glaucoma sleep apnea|glaucoma and sleep apnea UMLS:C1842025|OMIM:137763|Orphanet:2085|GARD:0002483|MESH:C564232 https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea owl:Class UBERON:0011741 biolink:NamedThing cardiac valve leaflet tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009671 biolink:NamedThing intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl Chudley syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism|Chudley-Rozdilsky syndrome|multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism|Chudley Rozdilsky syndrome SCTID:764959000|GARD:0001358|Orphanet:3068|MESH:C535458|ICD10:Q87.8|OMIM:253320|UMLS:C1854663 owl:Class UBERON:0003068 biolink:NamedThing axial mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001190 biolink:NamedThing Brucella suis brucellosis An disease or disorder caused by infection with Brucella suis. tmpte7i6ely_mondo_relaxed.owl Brucella suis infectious disease|Brucella suis caused disease or disorder|Brucella suis disease or disorder DOID:11076 owl:Class MONDO:0004619 biolink:NamedThing measles A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). tmpte7i6ely_mondo_relaxed.owl rubeola infection|morbilli|Measles morbillivirus infectious disease|rubeola|Measles morbillivirus caused disease or disorder|Measles morbillivirus disease or disorder EFO:1002025|ICD10:B05|ICD10:B05.9|NCIT:C96406|GARD:0003434|DOID:8622|MESH:D008457|ICD9:055|SCTID:14189004|UMLS:C0025007 https://rarediseases.info.nih.gov/diseases/3434/measles owl:Class MONDO:0009767 biolink:NamedThing oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. tmpte7i6ely_mondo_relaxed.owl Kramer syndrome|hypopigmentation oculocerebral syndrome Cross type|Cross syndrome|oculocerebral syndrome with hypopigmentation|oculocerebral hypopigmentation syndrome ICD9:759.89|OMIM:257800|SCTID:17827007|GARD:0000105|ICD10:E70.3|Orphanet:2719 owl:Class MONDO:0003725 biolink:NamedThing breast adenosis A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis. tmpte7i6ely_mondo_relaxed.owl adenosis of the breast|adenosis of breast|microglandular adenosis|adenosis - breast|breast adenosis|adenosis EFO:0006891|DOID:5998|NCIT:C3484|UMLS:C0085750 owl:Class MONDO:0016669 biolink:NamedThing sickle cell-hemoglobin c disease syndrome tmpte7i6ely_mondo_relaxed.owl sickle cell - hemoglobin C disease|HbSC disease UMLS:C0019034|ICD10:D57.2|Orphanet:251365|MedDRA:10057072|GARD:0006584 owl:Class MONDO:0018351 biolink:NamedThing adenocarcinoma of penis A adenocarcinoma that involves the penis. tmpte7i6ely_mondo_relaxed.owl penis adenocarcinoma|adenocarcinoma of the penis|penile adenocarcinoma Orphanet:398053|ICD10:C60.1|ICD10:C60.0|ICD10:C60.8|ICD10:C60.2|ICD10:C60.9 Editor note: consider merging with Paget disease of penis owl:Class GO:1903048 biolink:NamedThing regulation of acetylcholine-gated cation channel activity Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009752 biolink:NamedThing neuropathy, painful tmpte7i6ely_mondo_relaxed.owl neuropathy, painful UMLS:C1850383|MESH:C564945|OMIM:256870 owl:Class MONDO:0015420 biolink:NamedThing cleft lip and alveolus Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. tmpte7i6ely_mondo_relaxed.owl ICD10:Q36.1|OMIM:600757|OMIM:610361|OMIM:225060|OMIM:602966|OMIM:119530|Orphanet:141291|OMIM:612858|OMIM:129400|OMIM:608874|SCTID:373643003|OMIM:608371|ICD10:Q36.9|ICD10:Q36.0|ICD9:525.8 owl:Class UBERON:0007171 biolink:NamedThing border of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4012 biolink:NamedThing FUT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3255 biolink:NamedThing EIF2AK3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003933 biolink:NamedThing cranial cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009355 biolink:NamedThing Hooft disease tmpte7i6ely_mondo_relaxed.owl Hooft disease|delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids MESH:C535329|UMLS:C0268479|OMIM:236300|GARD:0009702 https://rarediseases.info.nih.gov/diseases/9702/hooft-disease owl:Class OBO:CHR_9606-chr12q14 biolink:NamedThing 12q14 (Human) tmpte7i6ely_mondo_relaxed.owl 67300000 57700000 hg38 owl:Class GO:0080090 biolink:NamedThing regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009825 biolink:NamedThing 5-oxoprolinase deficiency 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. tmpte7i6ely_mondo_relaxed.owl OPLAHD|5-oxoprolinase deficiency (disease)|inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|oxoprolinuria due to oxoprolinase deficiency|5-alpha-oxoprolinase deficiency|5-oxoprolinase deficiency|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|oxoprolinuria due to 5-oxoprolinase deficiency 5-oxoprolinase deficiency (disease) UMLS:C0268525|OMIM:260005|MESH:C535322|SCTID:26132002|GARD:0005681|ICD10:E72.8|ICD9:270.8|Orphanet:33572|HP:0040142 owl:Class MONDO:0032746 biolink:NamedThing hydatidiform mole, recurrent, 3 tmpte7i6ely_mondo_relaxed.owl HYDM3|HYDATIDIFORM MOLE, RECURRENT, 3 OMIM:618431 owl:Class MONDO:0018142 biolink:NamedThing pyruvate carboxylase deficiency, severe neonatal type Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. tmpte7i6ely_mondo_relaxed.owl pyruvate carboxylase deficiency type B ICD10:E74.4|Orphanet:353314|OMIM:266150|UMLS:CN204539 owl:Class MONDO:0014272 biolink:NamedThing palmoplantar keratoderma, Nagashima type Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. tmpte7i6ely_mondo_relaxed.owl palmoplantar hyperkeratosis, Nagashima type|palmoplantar keratoderma, Nagashima type|PPK, Nagashima type|PPKN OMIM:615598|SCTID:722205008|ICD10:Q82.8|UMLS:C3810072|Orphanet:140966 owl:Class MONDO:0025404 biolink:NamedThing coronaviral enteritis of turkeys An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus. tmpte7i6ely_mondo_relaxed.owl enteritis, transmissible, of turkeys|transmissible enteritis of turkeys|Bluecomb of turkeys|coronaviral enteritis of turkeys MESH:D004753|UMLS:C0014342 owl:Class MONDO:0100006 biolink:NamedThing secondary mast cell activation syndrome Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells. tmpte7i6ely_mondo_relaxed.owl secondary MACS 2018-07-17 21:45:26+00:00 owl:Class MONDO:0032661 biolink:NamedThing neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia tmpte7i6ely_mondo_relaxed.owl NEDIDHA|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA OMIM:618292 owl:Class NCBITaxon:565995 biolink:NamedThing Bundibugyo ebolavirus tmpte7i6ely_mondo_relaxed.owl BDBV|Bundibugyo virus|Ebolavirus bundibugyo GC_ID:1 ncbi_taxonomy owl:Class GO:0006836 biolink:NamedThing neurotransmitter transport The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. tmpte7i6ely_mondo_relaxed.owl sodium:neurotransmitter transport owl:Class HGNC:18791 biolink:NamedThing ZFP57 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100276 biolink:NamedThing Skin pit A small, skin-lined tract that leads from the surface to deep within the tissues. tmpte7i6ely_mondo_relaxed.owl Skin pit|Skin pits UMLS:C4020712|UMLS:C4022172 doelkens 2010-08-05T10:51:32Z human_phenotype owl:Class MONDO:0005025 biolink:NamedThing endocarditis Inflammation of the endocardium. tmpte7i6ely_mondo_relaxed.owl endocarditis (disease)|inflammation of endocardium|endocarditis|endocardium inflammation endocarditis (disease) MESH:D004696|SCTID:56819008|NCIT:C34582|HP:0100584|ICD9:421.9|EFO:0000465|ICD9:424.99|ICD10:I33.9|DOID:10314 owl:Class MONDO:0009352 biolink:NamedThing classic homocystinuria Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. tmpte7i6ely_mondo_relaxed.owl homocystinuria due to cystathionine beta-synthase deficiency|homocystinuria with or without response to pyridoxine|homocystinuria due to CBS deficiency|CBS deficiency|classic homocystinuria|hyperhomocysteinemia, thrombotic, CBS-related|cystathionine beta-synthase deficiency SCTID:24308003|GARD:0006667|UMLS:C0751202|OMIM:236200|Orphanet:394|MedDRA:10071093|ICD10:E72.1 https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency owl:Class MONDO:0100084 biolink:NamedThing alpha-actinopathy A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. tmpte7i6ely_mondo_relaxed.owl actinopathy|actin myopathy|alpha-actinopathy|ACTA1 disease|alpha actinopathy The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. owl:Class GO:0046578 biolink:NamedThing regulation of Ras protein signal transduction Any process that modulates the frequency, rate or extent of Ras protein signal transduction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002535 biolink:NamedThing verrucous papilloma A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance. tmpte7i6ely_mondo_relaxed.owl NCIT:C4101|UMLS:C0334243|ICDO:8051/0|DOID:3177 owl:Class UBERON:0004412 biolink:NamedThing proximal epiphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004384 biolink:NamedThing epiphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002680 biolink:NamedThing chronic wasting disease A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions). tmpte7i6ely_mondo_relaxed.owl DOID:3530|MESH:D034081|UMLS:C1135993 owl:Class HGNC:4326 biolink:NamedThing GLRA1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8912 biolink:NamedThing PHB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016941 biolink:NamedThing partial duplication of the short arm of chromosome 4 tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome 4p|partial duplication of the short arm of chromosome type 4|partial trisomy of chromosome 4p|partial trisomy of the short arm of chromosome 4 Orphanet:262716 owl:Class HGNC:5382 biolink:NamedThing IDH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003694 biolink:NamedThing ovarian clear cell cystadenofibroma A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. tmpte7i6ely_mondo_relaxed.owl ovarian clear cell cystadenofibroma|ovary clear cell cystadenofibroma|clear cell cystadenofibroma of ovary DOID:5896|UMLS:C1518695|NCIT:C40086 owl:Class MONDO:0003693 biolink:NamedThing clear cell cystadenofibroma A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells. tmpte7i6ely_mondo_relaxed.owl clear cell cystadenofibroma UMLS:C1377853|NCIT:C8988|DOID:5895 owl:Class NCBITaxon:513045 biolink:NamedThing Dioctophyme renale tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033639 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 10 tmpte7i6ely_mondo_relaxed.owl MC4DN10 OMIM:619053 owl:Class MONDO:0006556 biolink:NamedThing hand dermatosis Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual. tmpte7i6ely_mondo_relaxed.owl MESH:D006229|DOID:3158|UMLS:C0018567|EFO:1000706 Editor note: TODO check definition owl:Class MONDO:0032914 biolink:NamedThing ciliary dyskinesia, primary, 44 tmpte7i6ely_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 44|Ciliary Dyskinesia, Primary, 44, Without Situs Inversus|CILD44 OMIM:618781 owl:Class MONDO:0024560 biolink:NamedThing PDA1 tmpte7i6ely_mondo_relaxed.owl patent ductus arteriosus 1|PDA1|PDA OMIM:607411|Orphanet:466729 owl:Class MONDO:0014129 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported. tmpte7i6ely_mondo_relaxed.owl LGMD2R|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES|autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|DES autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2R UMLS:C3809137|DOID:0110286|Orphanet:363543|ICD10:G71.0|OMIM:615325 owl:Class UBERON:0000091 biolink:NamedThing bilaminar disc tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031349 biolink:NamedThing positive regulation of defense response Any process that activates or increases the frequency, rate or extent of a defense response. tmpte7i6ely_mondo_relaxed.owl upregulation of defense response|stimulation of defense response|activation of defense response|up-regulation of defense response|up regulation of defense response owl:Class MONDO:0010781 biolink:NamedThing ataxia and polyneuropathy, adult-onset tmpte7i6ely_mondo_relaxed.owl OMIM:500010|DOID:0111750|MESH:C564020|UMLS:C1838916 owl:Class MONDO:0030885 biolink:NamedThing amyotrophic lateral sclerosis 26 with or without frontotemporal dementia tmpte7i6ely_mondo_relaxed.owl ALS26 OMIM:619133 owl:Class HP:0000828 biolink:NamedThing Abnormality of the parathyroid gland An abnormality of the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl Parathyroid disease UMLS:C0030517|UMLS:C4025822|MSH:D010279|SNOMEDCT_US:73132005 There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. human_phenotype owl:Class NCBITaxon:2104 biolink:NamedThing Mycoplasma pneumoniae tmpte7i6ely_mondo_relaxed.owl Mycoplasmoides pneumoniae (Somerson et al. 1963) Gupta et al. 2018|Filterable agent of primary atypical pneumonia|Mycoplasmoides pneumoniae|Schizoplasma pneumoniae PMID:4867945|PMID:19871393|PMID:29556819|PMID:31385780|PMID:31971499|GC_ID:4 ncbi_taxonomy owl:Class NCBITaxon:2093 biolink:NamedThing Mycoplasma tmpte7i6ely_mondo_relaxed.owl Asteromyces|Asterococcus|Eperythrozoon|Borrelomyces|Haemobartonella|Pleuropneumonia|Bovimyces PMID:11321109|PMID:16350067|PMID:15176735|PMID:16403858|GC_ID:4|PMID:25288662|PMID:10826816|PMID:8863441|PMID:11931184|PMID:11411711|PMID:13403276|PMID:8995799 NCBITaxon:57371|NCBITaxon:29500 ncbi_taxonomy owl:Class MONDO:0003718 biolink:NamedThing occlusion precerebral artery tmpte7i6ely_mondo_relaxed.owl occlusion and stenosis of multiple and bilateral precerebral arteries|occlusion and stenosis of precerebral artery ICD9:433.3|ICD9:433|DOID:5976|ICD10:I65.9|SCTID:28790007|ICD9:433.9|ICD9:433.81|ICD9:433.80|UMLS:C0265090 owl:Class GO:1903020 biolink:NamedThing positive regulation of glycoprotein metabolic process Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process. tmpte7i6ely_mondo_relaxed.owl upregulation of glycoprotein metabolic process|positive regulation of glycoprotein metabolism|up regulation of glycoprotein metabolism|activation of glycoprotein metabolism|up regulation of glycoprotein metabolic process|upregulation of glycoprotein metabolism|up-regulation of glycoprotein metabolism|activation of glycoprotein metabolic process|up-regulation of glycoprotein metabolic process owl:Class MONDO:0001434 biolink:NamedThing inflammatory spondylopathy tmpte7i6ely_mondo_relaxed.owl inflammatory spondylopathies in disease EC|inflammatory spondylopathy in disease classified elsewhere|inflammatory spondylopathies in disease classified elsewhere DOID:12105|ICD9:720.9|ICD9:720.81|SCTID:202649003|ICD9:720.89 owl:Class MONDO:0003122 biolink:NamedThing striatonigral degeneration A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. tmpte7i6ely_mondo_relaxed.owl ICD10:G23.2|DOID:4751|OMIM:609161|MESH:D020955|SCTID:29618004|UMLS:C0270733|OMIMPS:271930|OMIM:500003|OMIM:271930|NCIT:C125695|ICD9:333.0 owl:Class MONDO:0023023 biolink:NamedThing neonatal dacryocystitis Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. tmpte7i6ely_mondo_relaxed.owl Neonatal dacryocystitis|Neonatal Dacryocystitis|neonatal dacryocystitis SCTID:23735003|UMLS:C0270178|NCIT:C116819 owl:Class MONDO:0020417 biolink:NamedThing right aortic arch An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. tmpte7i6ely_mondo_relaxed.owl right aortic arch|right aortic arch (disease) right aortic arch (disease) SCTID:111321007|MedDRA:10067407|ICD10:Q25.4|HP:0012020|Orphanet:99081|NCIT:C103917 owl:Class UBERON:0003564 biolink:NamedThing diencephalon dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017397 biolink:NamedThing constitutional dyserythropoietic anemia tmpte7i6ely_mondo_relaxed.owl ICD10:D64.4|Orphanet:293830 owl:Class MONDO:0030313 biolink:NamedThing encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 tmpte7i6ely_mondo_relaxed.owl IIAE10|herpes simplex encephalitis, susceptibility to, 7|encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 OMIM:619396 owl:Class MONDO:0011970 biolink:NamedThing rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome tmpte7i6ely_mondo_relaxed.owl Re-ped-Wc|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp|EPRPDC OMIM:608105|Orphanet:163727|DOID:0111645|MESH:C535499|UMLS:C1842531 owl:Class MONDO:0019651 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation tmpte7i6ely_mondo_relaxed.owl ICD10:N04.3|Orphanet:93209|UMLS:CN206523 owl:Class MONDO:0012490 biolink:NamedThing cone-rod synaptic disorder, congenital nonprogressive tmpte7i6ely_mondo_relaxed.owl cone-rod synaptic disorder, congenital nonprogressive|night blindness, congenital stationary, type 2B, formerly|night blindness, congenital stationary, incomplete, autosomal recessive|night blindness, congenital stationary, type 2B|night blindness, congenital stationary, incomplete, autosomal recessive, formerly|CRSD UMLS:C1864877|Orphanet:215|OMIM:610427 owl:Class HGNC:10583 biolink:NamedThing SCN11A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005156 biolink:NamedThing encephalomyelitis Inflammation of the brain and the spinal cord. tmpte7i6ely_mondo_relaxed.owl encephalitis &/or myelitis|encephalitis and/or myelitis|inflammation of central nervous system|central nervous system inflammation DOID:640|NCIT:C34580|EFO:0001423|MESH:D004679|ICD9:323.9|UMLS:C0014070|SCTID:62950007 owl:Class CHEBI:23334 biolink:NamedThing cobalamins tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:176843 biolink:NamedThing vitamin B12 Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives). tmpte7i6ely_mondo_relaxed.owl vitamin B12 vitamer|vitamin B-12|vitamin B12|vitamin B12 vitamers|vitamins B12 owl:Class HGNC:24678 biolink:NamedThing FTO tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6760 biolink:NamedThing Scylla tmpte7i6ely_mondo_relaxed.owl mangrove crabs|mud crabs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013574 biolink:NamedThing cutis laxa - Marfanoid syndrome tmpte7i6ely_mondo_relaxed.owl cutis laxa - Marfanoid syndrome|cutis laxa, neonatal, with MARFANOID phenotype Orphanet:171719|MESH:C563639|UMLS:C0432335|SCTID:254221009|OMIM:614100 owl:Class MONDO:0001220 biolink:NamedThing hypoparathyroidism Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. tmpte7i6ely_mondo_relaxed.owl parathyroid, underactivity of|hypoparathyroidism, idiopathic (subtype) ICD9:252.1|OMIM:146200|MESH:D007011|DOID:11199|ICD10:E20.9|NCIT:C78350|OMIM:307700|ICD10:E20|Orphanet:2238|SCTID:36976004|GARD:0006733 https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism owl:Class MONDO:0016322 biolink:NamedThing neuroendocrine cell hyperplasia of infancy Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure. tmpte7i6ely_mondo_relaxed.owl chronic tachypnoe of infancy|NEHI|NCHI|CTI NCIT:C120169|ICD10:J84.841|UMLS:C3161105|SCTID:707435002|Orphanet:217560 owl:Class MONDO:0011409 biolink:NamedThing hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection tmpte7i6ely_mondo_relaxed.owl hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection|Sm2 OMIM:604201 owl:Class MONDO:0019660 biolink:NamedThing Pfeiffer syndrome type 2 Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. tmpte7i6ely_mondo_relaxed.owl Orphanet:93259|UMLS:CN206534|ICD10:Q87.0 owl:Class MONDO:0015042 biolink:NamedThing primary plasmacytoma of the bone tmpte7i6ely_mondo_relaxed.owl UMLS:CN197327|Orphanet:100021|ICD10:C90.3 owl:Class HGNC:4042 biolink:NamedThing FZD4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001108 biolink:NamedThing broad ligament malignant neoplasm A malignant neoplasm involving the broad ligament of uterus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of broad ligament of uterus|cancer of broad ligament of uterus|broad ligament of uterus cancer|malignant broad ligament of uterus neoplasm ICD9:183.3|DOID:10744|SCTID:449259009|UMLS:C0346866|ICD10:C57.1 owl:Class MONDO:0019131 biolink:NamedThing ossification anomalies-psychomotor developmental delay syndrome Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification. tmpte7i6ely_mondo_relaxed.owl UMLS:CN227577|Orphanet:73230|ICD10:Q79.8 owl:Class MONDO:0044138 biolink:NamedThing hyalitis Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. tmpte7i6ely_mondo_relaxed.owl hyalitis|vitritis|Vitritis|hyaloiditis|Vitreitis SCTID:95802009|EFO:1001907|UMLS:C0235812|NCIT:C50587 owl:Class MONDO:0009075 biolink:NamedThing Dandy-Walker malformation-postaxial polydactyly syndrome Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. tmpte7i6ely_mondo_relaxed.owl Pierquin syndrome|Dandy-Walker malformation with postaxial polydactyly|DWM with postaxial polydactyly SCTID:733094005|ICD10:Q87.8|MESH:C535771|GARD:0001669|Orphanet:1566|OMIM:220220|UMLS:C1857351 owl:Class MONDO:0033651 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 16 tmpte7i6ely_mondo_relaxed.owl MC4DN16 OMIM:619060 owl:Class MONDO:0023016 biolink:NamedThing duplication of leg mirror foot tmpte7i6ely_mondo_relaxed.owl GARD:0001976 https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot owl:Class MONDO:0022545 biolink:NamedThing Barnicoat Baraitser syndrome tmpte7i6ely_mondo_relaxed.owl Barnicoat-Baraitser syndrome|polysyndactyly overgrowth syndrome GARD:0000825 Editor note: check ORDO https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome owl:Class MONDO:0016008 biolink:NamedThing fetal hydantoin syndrome Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. tmpte7i6ely_mondo_relaxed.owl phenytoin embryofetopathy|phenytoin embryopathy|Dilantin embryopathy|fetal dihydantoin syndrome ICD10:Q86.1|MedDRA:10016508|SCTID:70065001|GARD:0006435|UMLS:C0265372|NCIT:C98927|ICD9:759.89|MESH:C537922|Orphanet:1912 https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome owl:Class MONDO:0006732 biolink:NamedThing drug-induced dyskinesia Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199) tmpte7i6ely_mondo_relaxed.owl EFO:1000904|SCTID:102448004|MESH:D004409|GARD:0008236|ICD9:333.99|MedDRA:10013916 owl:Class MONDO:0019910 biolink:NamedThing maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpte7i6ely_mondo_relaxed.owl UPD(2)mat|maternal uniparental disomy of chromosome type 2 ICD10:Q99.8|Orphanet:96179|SCTID:766237006 owl:Class MONDO:0027407 biolink:NamedThing Kleefstra syndrome 1 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. tmpte7i6ely_mondo_relaxed.owl KLEFS1|chromosome 9q34.3 deletion syndrome|9q-syndrome|Kleefstra syndrome|Kleefstra syndrome 1 MESH:C563043|OMIM:610253|NCIT:C129976|UMLS:C0795833|SCTID:724207001|DOID:0070075 owl:Class MONDO:0011134 biolink:NamedThing Curry-Jones syndrome Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. tmpte7i6ely_mondo_relaxed.owl curry-JONES syndrome|corpus callosum agenesis polysyndactyly|corpus callosum agenesis-polysyndactyly syndrome|curry-Jones syndrome|curry Jones syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development|CRJS SCTID:720819006|ICD10:Q87.0|Orphanet:1553|OMIM:601707|GARD:0005584|MESH:C536735|UMLS:C0795915 https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome owl:Class MONDO:0014584 biolink:NamedThing congenital myasthenic syndrome 3B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome 3B, fast-channel|CMS3B|myasthenic syndrome, congenital, 3B, FAST-channel|congenital myasthenic syndrome type 3B OMIM:616322|DOID:0110665|Orphanet:590|UMLS:C4225371|Orphanet:98913 owl:Class GO:0023019 biolink:NamedThing signal transduction involved in regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. tmpte7i6ely_mondo_relaxed.owl regulation of gene expression as a consequence of signal transmission owl:Class MONDO:0004429 biolink:NamedThing skin meningioma A meningioma (disease) that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of zone of skin|zone of skin meningioma (disease)|primary meningioma of the skin UMLS:C1335481|DOID:8006|NCIT:C5277 owl:Class MONDO:0014951 biolink:NamedThing Sotos syndrome 3 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. tmpte7i6ely_mondo_relaxed.owl Sotos syndrome caused by mutation in APC2|SOTOS3|Sotos syndrome 3|APC2 Sotos syndrome|Sotos syndrome type 3 UMLS:C4310684|OMIM:617169 owl:Class UBERON:0014392 biolink:NamedThing sweat of palm tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000443 biolink:NamedThing polymer_attribute An attribute to describe the kind of biological sequence. tmpte7i6ely_mondo_relaxed.owl polymer attribute owl:Class SO:0000400 biolink:NamedThing sequence_attribute An attribute describes a quality of sequence. tmpte7i6ely_mondo_relaxed.owl sequence attribute owl:Class MONDO:0019876 biolink:NamedThing 8p inverted duplication/deletion syndrome 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl inverted 8p duplication/deletion syndrome|Invdupdel(8p) Orphanet:96092|UMLS:CN206812|ICD10:Q99.8|SCTID:718188007 owl:Class HGNC:3508 biolink:NamedThing EWSR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002889 biolink:NamedThing orbital cancer A primary or metastatic malignant neoplasm involving the orbit. tmpte7i6ely_mondo_relaxed.owl malignant orbit tumor|malignant orbital neoplasm|cancer of orbit of skull|malignant orbit neoplasm|orbital tumor|malignant tumor of orbit|malignant neoplasm of orbit|orbit of skull cancer|malignant neoplasm of the orbit|malignant orbital tumor|malignant tumor of the orbit|neoplasm of orbit proper|malignant neoplasm of orbit of skull|malignant orbit of skull neoplasm|orbit cancer ICD10:C69.6|NCIT:C3562|DOID:4143|ICD9:190.1|ICD9:239.89|EFO:0007408|SCTID:127003006 owl:Class MONDO:0008155 biolink:NamedThing osteomesopyknosis Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. tmpte7i6ely_mondo_relaxed.owl axial osteosclerosis|osteomesopyknosis SCTID:254125009|MESH:C537792|Orphanet:2777|GARD:0000391|OMIM:166450|UMLS:C0432264|ICD10:Q78.2 https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis owl:Class ENVO:01000846 biolink:NamedThing water ice crystal A crystal which is primarily composed of water ice. tmpte7i6ely_mondo_relaxed.owl ice crystal owl:Class CL:0002554 biolink:NamedThing fibroblast of lymphatic vessel A fibroblast of the lymphatic system. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:16:18Z cell owl:Class GO:0140053 biolink:NamedThing mitochondrial gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007869 biolink:NamedThing Kyrle disease Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. tmpte7i6ely_mondo_relaxed.owl hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle's disease|Kyrle disease OMIM:149500|MESH:C538130|GARD:0009738|UMLS:C0263382|SCTID:34042008 https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease owl:Class GO:2001251 biolink:NamedThing negative regulation of chromosome organization Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. tmpte7i6ely_mondo_relaxed.owl negative regulation of nuclear genome maintenance|negative regulation of chromosome organisation|negative regulation of maintenance of genome integrity|negative regulation of chromosome organization and biogenesis owl:Class MONDO:0021172 biolink:NamedThing Timothy syndrome type 2 (disorder) Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. tmpte7i6ely_mondo_relaxed.owl Timothy syndrome, atypical type UMLS:C4304347|SCTID:719907006 owl:Class MONDO:0016601 biolink:NamedThing adult-onset citrullinemia type I Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. tmpte7i6ely_mondo_relaxed.owl late-onset citrullinemia type 1|late-onset citrullinemia type I|adult-onset citrullinemia type 1 Orphanet:247573|ICD10:E72.2|UMLS:CN201794 owl:Class MONDO:0004815 biolink:NamedThing osteosclerotic plasma cell myeloma A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. tmpte7i6ely_mondo_relaxed.owl osteosclerotic plasma cell myeloma|osteosclerotic myeloma|osteosclerotic multiple myeloma DOID:9541|NCIT:C7765|SCTID:425657001 owl:Class MONDO:0011360 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 14 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 14|autosomal recessive deafness 14|DFNB14|autosomal recessive nonsyndromic deafness type 14|autosomal recessive nonsyndromic deafness 14 DOID:0110469|UMLS:C1863613|ICD10:H90.3|MESH:C566344|OMIM:603678 owl:Class GO:0015833 biolink:NamedThing peptide transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019269 biolink:NamedThing gray matter of diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002027 biolink:NamedThing avoidant personality disorder A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. tmpte7i6ely_mondo_relaxed.owl anxious personality disorder ICD9:301.82|NCIT:C92636|DOID:1509|SCTID:231528008|ICD10:F60.6 owl:Class HP:0011387 biolink:NamedThing Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. tmpte7i6ely_mondo_relaxed.owl Dilated vestibular aqueduct|Widened vestibular aqueduct MSH:C566366|UMLS:C1863752 Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. peter 2012-03-09T07:38:34Z human_phenotype owl:Class MONDO:0015751 biolink:NamedThing craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. tmpte7i6ely_mondo_relaxed.owl Capra-DeMarco syndrome|Berant syndrome|familial scaphocephaly-radioulnar synostosis syndrome ICD10:Q87.8|Orphanet:171839|UMLS:C3267187|SCTID:720815000 owl:Class CL:0008007 biolink:NamedThing visceral muscle cell A muscle cell that is part of some visceral muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021943 biolink:NamedThing tuberculoma A tumor-like mass resulting from the enlargement of a tuberculous lesion. tmpte7i6ely_mondo_relaxed.owl Tuberculomas|Tuberculoma SCTID:15202009|UMLS:C0041295|MESH:D014375 owl:Class MONDO:0012330 biolink:NamedThing talo-patello-scaphoid osteolysis Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl singh-Williams-McAlister syndrome|talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals OMIM:609655|MESH:C536894|UMLS:C1864784|Orphanet:50809|GARD:0010061 owl:Class GO:0009617 biolink:NamedThing response to bacterium Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. tmpte7i6ely_mondo_relaxed.owl response to bacteria owl:Class UBERON:0001536 biolink:NamedThing left common carotid artery plus branches tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011031 biolink:NamedThing Abnormality of iron homeostasis An abnormality of the homeostasis (concentration) of iron cation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023583 peter 2011-03-04T08:01:07Z human_phenotype owl:Class HP:0011030 biolink:NamedThing Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. tmpte7i6ely_mondo_relaxed.owl Abnormality of transition element cation homeostasis UMLS:C4023584 peter 2011-03-04T07:59:31Z human_phenotype owl:Class HGNC:92 biolink:NamedThing ACADVL tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013645 biolink:NamedThing gular gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007949 biolink:NamedThing Marshall syndrome Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. tmpte7i6ely_mondo_relaxed.owl deafness, myopia, cataract, saddle nose-Marshall type|Marshall syndrome|MRSHS OMIM:154780|GARD:0006984|UMLS:C0265235|SCTID:33410002|ICD10:Q87.0|Orphanet:560|NCIT:C128115|DOID:0111510|MESH:C536025|ICD9:759.89 owl:Class GO:0009124 biolink:NamedThing nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl nucleoside monophosphate formation|nucleoside monophosphate biosynthesis|nucleoside monophosphate synthesis|nucleoside monophosphate anabolism owl:Class MONDO:0004639 biolink:NamedThing perinatal necrotizing enterocolitis A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. tmpte7i6ely_mondo_relaxed.owl perinatal necrotising enterocolitis|enterocolitis necrotizing|enterocolitis, necrotizing|necrotizing enterocolitis in fetus or newborn|necrotizing enterocolitis|pseudomembranous enterocolitis in newborn MESH:D020345|DOID:8677|UMLS:C0520459|GARD:0009767|SCTID:2707005|NCIT:C84915|SCTID:397729009 owl:Class MONDO:0033636 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 4 tmpte7i6ely_mondo_relaxed.owl MC4DN4 OMIM:619048 owl:Class MONDO:0009695 biolink:NamedThing myeloproliferative disease, autosomal recessive tmpte7i6ely_mondo_relaxed.owl myeloproliferative disease, autosomal recessive UMLS:C1850779|OMIM:254700|MESH:C564977 owl:Class MONDO:0008873 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism, type 3 tmpte7i6ely_mondo_relaxed.owl Mopd, Caroline Crachami type|Mopd 3|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|osteodysplastic primordial dwarfism, type 3|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type|Mopd, Sicilian fairy type|microcephalic osteodysplastic primordial dwarfism, type III Orphanet:2636|OMIM:210730|UMLS:C1859439|MESH:C537320 owl:Class MONDO:0016994 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. tmpte7i6ely_mondo_relaxed.owl primordial microcephalic dwarfism, Crachami type|Taybi-Linder syndrome|Brachymelic primordial dwarfism|Cephaloskeletal dysplasia|microcephalic osteodysplastic primordial dwarfism types 1 and 3|low-birth-weight dwarfism with skeletal dysplasia|microcephalic osteodysplastic primordial dwarfism type 1|MOPD types I and III|MOPD 1|osteodysplastic primordial dwarfism type I|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type SCTID:725461009|OMIM:210730|Orphanet:2636|GARD:0005120|ICD10:Q87.1|OMIM:210710|UMLS:CN202308 https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 owl:Class ECTO:8000017 biolink:NamedThing exposure to atmospheric process A exposure event involving the interaction of an exposure receptor to atmospheric process. tmpte7i6ely_mondo_relaxed.owl atmospheric process exposure owl:Class MONDO:0021388 biolink:NamedThing neoplasm of chest wall A neoplasm (disease) that involves the chest wall. tmpte7i6ely_mondo_relaxed.owl tumor of the chest wall|chest wall neoplasm (disease)|tumor of chest wall|neoplasm of chest wall|chest wall neoplasm|chest wall tumor|neoplasm of the chest wall NCIT:C4929|ICD9:239.89|UMLS:C1290309|SCTID:126640008 owl:Class CL:0000511 biolink:NamedThing androgen binding protein secreting cell A peptide hormone secreting cell that secretes androgen binding protein. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0013822 biolink:NamedThing acrodysostosis 2 with or without hormone resistance Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene. tmpte7i6ely_mondo_relaxed.owl acrodysostosis caused by mutation in PDE4D|ACRDYS2|acrodysostosis 2 with or without hormone resistance|PDE4D acrodysostosis Orphanet:950|Orphanet:280651|UMLS:C3553250|OMIM:614613 owl:Class UBERON:0001212 biolink:NamedThing duodenal gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0007367 biolink:NamedThing Atrophy/Degeneration affecting the central nervous system tmpte7i6ely_mondo_relaxed.owl Atrophy/Degeneration affecting the CNS UMLS:C4024899 peter 2008-04-01T10:23:00Z human_phenotype owl:Class CL:0002180 biolink:NamedThing mucous cell of stomach A mucous cell in the epithelium of the stomach. tmpte7i6ely_mondo_relaxed.owl FMA:63464 tmeehan 2010-08-25T03:38:51Z CL:1000404 cell owl:Class MONDO:0003933 biolink:NamedThing chest wall bone cancer An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. tmpte7i6ely_mondo_relaxed.owl bone cancer of chest wall|malignant bone tumor of chest wall|malignant bone neoplasm of chest wall|malignant bone neoplasm of the chest wall|chest wall bone cancer|malignant chest wall bone tumor|malignant chest wall bone neoplasm|malignant bone tumor of the chest wall NCIT:C6724|DOID:6579|UMLS:C1334572 owl:Class MONDO:0043777 biolink:NamedThing rhinophyma Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose. tmpte7i6ely_mondo_relaxed.owl Rhinophymas|rhinophyma|hypertrophic rosacea SCTID:19877001|MESH:D012224|UMLS:C0035466|NCIT:C34989 owl:Class UBERON:0010125 biolink:NamedThing future superior salivatory nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004493 biolink:NamedThing cardiac muscle tissue of myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008098 biolink:NamedThing mesomelic dwarfism, Nievergelt type tmpte7i6ely_mondo_relaxed.owl mesomelic dwarfism Nievergelt type|mesomelic dysplasia, Nievergelt type|Nievergelt syndrome|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula Orphanet:2633|OMIM:163400|UMLS:C0432231|SCTID:33979003|ICD10:Q78.8|GARD:0003554|MESH:C536120 owl:Class CL:0000675 biolink:NamedThing female gamete A mature sexual reproductive cell of the female germline. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:2000857 biolink:NamedThing positive regulation of mineralocorticoid secretion Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030333 biolink:NamedThing immunodeficiency 84 tmpte7i6ely_mondo_relaxed.owl IMD84|immunodeficiency 84 OMIM:619437 owl:Class UBERON:0022278 biolink:NamedThing nucleus of pudendal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003001 biolink:NamedThing seminoma A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. tmpte7i6ely_mondo_relaxed.owl seminoma, pure|seminoma, malignant|seminoma OMIM:273300|NCIT:C9309|NCIT:C7328|ICDO:9061/3|ONCOTREE:SEM|ICD9:186.9|SCTID:443675005|DOID:4440|SCTID:255107005|MESH:D018239 owl:Class MONDO:0017372 biolink:NamedThing congenital varicella syndrome Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. tmpte7i6ely_mondo_relaxed.owl Varicella virus antenatal infection|fetal effects of chickenpox|fetal varicella zoster syndrome|fetal varicella infection|fetal effects of varicella zoster virus|antenatal varicella virus infection|Varicella embryopathy|mother-to-child transmission of varicella syndrome NCIT:C116800|ICD10:P35.8|SCTID:277644009|Orphanet:291|GARD:0000045|UMLS:C0343560|ICD9:771.2 https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome owl:Class MONDO:0004614 biolink:NamedThing chronic monocytic leukemia Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites. tmpte7i6ely_mondo_relaxed.owl monocytic leukemia, chronic ICD9:206.10|ICD9:206.11|UMLS:C0023466|ICD10:C93.1|MESH:D007951|SCTID:188745007|ICD9:206.1|DOID:8593|NCIT:C34774 owl:Class MONDO:0017599 biolink:NamedThing splenic diffuse red pulp small B-cell lymphoma Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism. tmpte7i6ely_mondo_relaxed.owl splenic diffuse red pulp lymphoma|SDRPL Orphanet:300869|UMLS:C2699508|ONCOTREE:SDRPL|ICD10:C83.0|SCTID:763884007|ICDO:9591/3|NCIT:C80309 owl:Class UBERON:8410020 biolink:NamedThing venule of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:75324 biolink:NamedThing excipient A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication. tmpte7i6ely_mondo_relaxed.owl excipient|fillers|bulking agent|filler|bulking agents owl:Class NCBITaxon:2732534 biolink:NamedThing Piccovirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0060688 biolink:NamedThing hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency tmpte7i6ely_mondo_relaxed.owl hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency|hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4 OMIM:617953|UMLS:CN244571 owl:Class MONDO:0024520 biolink:NamedThing renal hypodysplasia/aplasia 3 tmpte7i6ely_mondo_relaxed.owl renal hypodysplasia/aplasia 3|RHDA3 EFO:0009137|UMLS:CN703737|OMIM:617805 owl:Class GO:0006396 biolink:NamedThing RNA processing Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011048 biolink:NamedThing epilepsy-microcephaly-skeletal dysplasia syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. tmpte7i6ely_mondo_relaxed.owl epilepsy - microcephaly - skeletal dysplasia|Battaglia-Neri syndrome|intellectual disability, microcephaly, epilepsy, and coarse face|mental retardation, microcephaly, epilepsy, and coarse face Orphanet:1948|GARD:0000836|ICD10:Q87.8|OMIM:601352 owl:Class MONDO:0001381 biolink:NamedThing bladder lymphoma A lymphoma that involves the urinary bladder. tmpte7i6ely_mondo_relaxed.owl lymphoma of urinary bladder|primary bladder lymphoma|urinary bladder lymphoma|lymphoma of the bladder|lymphoma of bladder|lymphoma of the urinary bladder DOID:11821|NCIT:C6164|UMLS:C1332561 owl:Class NCBITaxon:33347 biolink:NamedThing Euheteroptera tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0062033 biolink:NamedThing positive regulation of mitotic sister chromatid segregation Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021098 biolink:NamedThing papillomatosis Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site. tmpte7i6ely_mondo_relaxed.owl papillomatosis NCIT:C3713 owl:Class MONDO:0000298 biolink:NamedThing dioctophymiasis A disease caused by infection with Dioctophyme renale. tmpte7i6ely_mondo_relaxed.owl Dioctophyme renale caused disease or disorder|Dioctophyme renale infectious disease|dioctophymosis|Dioctophyme renale infection|giant kidney worm disease|dioctophyma renale infection|Dioctophyme renale disease or disorder UMLS:C0012482|SCTID:40410004|DOID:0050260 owl:Class MONDO:0005745 biolink:NamedThing Enoplea infectious disease Infections with nematodes of the order enoplida. tmpte7i6ely_mondo_relaxed.owl Enoplea caused disease or disorder|Enoplea disease or disorder MESH:D017189|EFO:0007253 owl:Class MONDO:0043069 biolink:NamedThing Zerres Rietschel Majewski syndrome tmpte7i6ely_mondo_relaxed.owl postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation GARD:0000338|UMLS:C2931301|MESH:C536724 owl:Class MONDO:0022777 biolink:NamedThing cleft lip palate dysmorphism kumar type tmpte7i6ely_mondo_relaxed.owl GARD:0001375 https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type owl:Class MONDO:0008337 biolink:NamedThing familial pterygium of the conjunctiva Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. tmpte7i6ely_mondo_relaxed.owl pterygium of the conjunctiva and cornea|pterygium of conjunctiva and cornea Orphanet:2989|GARD:0004569|UMLS:C1867441|MESH:C566740|ICD10:H11.0|OMIM:178000 owl:Class HGNC:3671 biolink:NamedThing FGF14 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001753 biolink:NamedThing cementum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013157 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 tmpte7i6ely_mondo_relaxed.owl MDDGA5|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|muscle-eye-brain-FKRP related|Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related Orphanet:588|OMIM:613153|UMLS:C3150413|DOID:0111241|Orphanet:899 owl:Class GO:1904538 biolink:NamedThing regulation of glycolytic process through fructose-6-phosphate Any process that modulates the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpte7i6ely_mondo_relaxed.owl regulation of glycolysis through fructose-6-phosphate owl:Class MONDO:0030989 biolink:NamedThing spermatogenic failure 53 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 53|SPGF53 OMIM:619258 owl:Class MONDO:0019427 biolink:NamedThing X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. tmpte7i6ely_mondo_relaxed.owl Orphanet:85334|ICD10:G31.8|SCTID:718849008|UMLS:CN206185 owl:Class MONDO:0032813 biolink:NamedThing developmental and epileptic encephalopathy, 79 tmpte7i6ely_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79|EIEE79|epileptic encephalopathy, early infantile, 79|DEE79 OMIM:618559 owl:Class MONDO:0017361 biolink:NamedThing congenital rubella syndrome An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. tmpte7i6ely_mondo_relaxed.owl rubella congenital|fetal rubella syndrome|congenital rubella syndrome|mother-to-child transmission of rubella syndrome|congenital rubella|CRS NCIT:C34992|ICD10:P35.0|SCTID:1857005|GARD:0004744|EFO:0007218|Orphanet:290|ICD9:771.0|MESH:D012410|UMLS:C0035921|MedDRA:10010618 owl:Class MONDO:0004826 biolink:NamedThing urethral calculus A concretion in the urethra. tmpte7i6ely_mondo_relaxed.owl urethra urolithiasis|urethral Stone|urolithiasis of urethra NCIT:C26995|ICD9:594.2|SCTID:20342001|DOID:9589|ICD10:N21.1|UMLS:C0162301 owl:Class MONDO:0019149 biolink:NamedThing cholesteryl ester storage disease Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. tmpte7i6ely_mondo_relaxed.owl CESD|cholesterol ester storage disease OMIM:278000|GARD:0012099|ICD10:E75.5|DOID:14502|Orphanet:75234|UMLS:C0008384|SCTID:57218003 owl:Class UBERON:0004236 biolink:NamedThing arteriole smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0009115 biolink:NamedThing Aplasia/hypoplasia involving the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. tmpte7i6ely_mondo_relaxed.owl Absent/small skeleton|Absent/underdeveloped skeleton UMLS:C4024592 peter 2008-04-05T10:53:00Z human_phenotype owl:Class MONDO:0029131 biolink:NamedThing peripheral neuropathy, autosomal recessive, with or without impaired intellectual development tmpte7i6ely_mondo_relaxed.owl PNRIID|peripheral neuropathy, autosomal recessive, with or without impaired intellectual development OMIM:618124 owl:Class MONDO:0010471 biolink:NamedThing Cornelia de Lange syndrome 5 tmpte7i6ely_mondo_relaxed.owl Cornelia de Lange syndrome 5|Cornelia DE Lange syndrome 5|CDLS5|Cornelia De Lange syndrome type 5 DOID:0080509|UMLS:C3550903|OMIM:300882|Orphanet:199 owl:Class MONDO:0010777 biolink:NamedThing cardiomyopathy, infantile hypertrophic tmpte7i6ely_mondo_relaxed.owl UMLS:C2748884|DOID:0111753|OMIM:500006 owl:Class MONDO:0006528 biolink:NamedThing bacterial exanthem A bacteria-induced exanthem tmpte7i6ely_mondo_relaxed.owl EFO:1000671|DOID:0050487 owl:Class PATO:0001822 biolink:NamedThing wetness A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35344 biolink:NamedThing 21-hydroxy steroid tmpte7i6ely_mondo_relaxed.owl 21-Hydroxysteroid|21-hydroxy steroids|21-hydroxysteroids owl:Class NCBITaxon:2169971 biolink:NamedThing Visna-maedi virus tmpte7i6ely_mondo_relaxed.owl Maedi-Visna virus|Visna virus|Visna lentivirus|Maedi visna virus|Maedi/Visna virus|Visna/maedi virus|Maedi visna virus MVV GC_ID:1 NCBITaxon:31677|NCBITaxon:11741 ncbi_taxonomy owl:Class MONDO:0013565 biolink:NamedThing Fanconi anemia complementation group G Fanconi anemia caused by mutations of the FANCG gene. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia, complementation group G|FANCG|Fanconi anemia complementation group G|Fanconi anemia complementation group type G|Fanconi Anemia, complementation group type G NCIT:C125708|DOID:0111086|OMIM:614082|EFO:0009046 owl:Class NCBITaxon:72273 biolink:NamedThing Thiotrichales tmpte7i6ely_mondo_relaxed.owl Thiothrix/Francisella group|Thiomicrospira group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class UBERON:0008788 biolink:NamedThing posterior cranial fossa tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0047865 biolink:NamedThing dimethylglycine dehydrogenase activity Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein. tmpte7i6ely_mondo_relaxed.owl N,N-dimethylglycine:(acceptor) oxidoreductase (demethylating)|N,N-dimethylglycine oxidase activity|N,N-dimethylglycine:acceptor oxidoreductase (demethylating) owl:Class MONDO:0003787 biolink:NamedThing childhood testicular mixed germ cell cancer A malignant mixed germ cell neoplasm that arises from the testis during childhood. tmpte7i6ely_mondo_relaxed.owl pediatric testicular mixed germ cell tumor|childhood testicular mixed germ cell tumor|childhood testicular mixed germ cell neoplasm|childhood mixed testicular germ cell cancer|mixed testicular germ cell cancer of childhood|pediatric testicular mixed germ cell neoplasm|pediatric mixed testicular germ cell cancer UMLS:C1333009|DOID:6161|NCIT:C6542 owl:Class UBERON:0006288 biolink:NamedThing rib cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004148 biolink:NamedThing gallbladder papillary neoplasm with an associated invasive carcinoma An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl gallbladder papillary neoplasm with an associated invasive carcinoma|gallbladder papillary neoplasm with an associated invasive cancer|papillary carcinoma of gallbladder|intracystic papillary neoplasm with an associated invasive carcinoma|gallbladder papillary carcinoma|gall bladder papillary carcinoma|papillary carcinoma of the gallbladder UMLS:C1333753|ICDO:8503/3|DOID:7221|NCIT:C5743 owl:Class HGNC:5401 biolink:NamedThing SP110 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005742 biolink:NamedThing emphysematous cholecystitis Cholecystitis resulting from infection by gas producing organisms. tmpte7i6ely_mondo_relaxed.owl gaseous pericholecystitis MESH:D041882|NCIT:C35592|DOID:9765|SCTID:95558008|UMLS:C0521610|EFO:0007249 owl:Class MONDO:0014168 biolink:NamedThing severe combined immunodeficiency due to CORO1A deficiency tmpte7i6ely_mondo_relaxed.owl severe combined immunodeficiency due to CORO1A deficiency|severe combined immunodeficiency due to coronin-1A deficiency|coronin-1A deficiency|IMD8|immunodeficiency 8|SCID due to coronin-1A deficiency|immunodeficiency type 8|SCID due to CORO1A deficiency Orphanet:228003|DOID:0060019|ICD10:D81.2|UMLS:C3809383|OMIM:615401 owl:Class HGNC:17975 biolink:NamedThing REEP2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001701 biolink:NamedThing in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016923 biolink:NamedThing partial duplication of chromosome 3 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 3|partial duplication of chromosome type 3 Orphanet:262201|SCTID:726341009 owl:Class HGNC:10591 biolink:NamedThing SCN4A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021088 biolink:NamedThing papillary meningioma A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern. tmpte7i6ely_mondo_relaxed.owl papillary meningioma UMLS:C3163622|ICDO:9538/3|NCIT:C3904|ONCOTREE:PPM owl:Class MONDO:0020156 biolink:NamedThing syndromic ankyloblepharon tmpte7i6ely_mondo_relaxed.owl UMLS:CN227801|Orphanet:98565 owl:Class NCBITaxon:63672 biolink:NamedThing Turbo tmpte7i6ely_mondo_relaxed.owl Turbo GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:63671 biolink:NamedThing Turbinidae tmpte7i6ely_mondo_relaxed.owl turban shells GC_ID:1 ncbi_taxonomy owl:Class GO:1902494 biolink:NamedThing catalytic complex A protein complex which is capable of catalytic activity. tmpte7i6ely_mondo_relaxed.owl enzyme complex owl:Class MONDO:0008188 biolink:NamedThing papillomatosis, confluent and reticulated tmpte7i6ely_mondo_relaxed.owl papillomatosis, confluent and reticulated|papillomatosis, familial cutaneous|papillomatosis, reticulated and confluent, of Gougerot and Carteaud|carp MESH:C566832|UMLS:C0263385|OMIM:167900 owl:Class MONDO:0100378 biolink:NamedThing acute myeloid leukemia, t(10;11)(p11.2;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(10;11)(p11.2;q23) NCIT:C168758 owl:Class MONDO:0016026 biolink:NamedThing infant epilepsy with migrant focal crisis An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown. tmpte7i6ely_mondo_relaxed.owl ICD10:G40.4|UMLS:C4510564|GARD:0002995|Orphanet:1943|SCTID:724274009 https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis owl:Class GO:0043010 biolink:NamedThing camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001654 biolink:NamedThing eye development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021582 biolink:NamedThing lentigo A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. tmpte7i6ely_mondo_relaxed.owl lentiginosis|lentigo|lentigines NCIT:C3159|OMIM:150900|MESH:D007911|SCTID:402624000 Excluded benign neoplasm as a subclass because NCIT classifies as non-neoplastic. https://github.com/monarch-initiative/mondo/issues/3692 owl:Class MONDO:0015935 biolink:NamedThing extragonadal germinoma tmpte7i6ely_mondo_relaxed.owl Orphanet:182127|MedDRA:10018207 owl:Class MONDO:0000138 biolink:NamedThing metaphyseal chondrodysplasia tmpte7i6ely_mondo_relaxed.owl metaphyseal chondrodysplasia|metaphyseal chondrodysplasia (disease) metaphyseal chondrodysplasia (disease) SCTID:28681006|HP:0005871 owl:Class GO:0030183 biolink:NamedThing B cell differentiation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. tmpte7i6ely_mondo_relaxed.owl B-cell differentiation|B lymphocyte differentiation|B-lymphocyte differentiation|B cell development owl:Class MONDO:0003676 biolink:NamedThing inferolateral myocardial infarct An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart. tmpte7i6ely_mondo_relaxed.owl DOID:5852|NCIT:C35673 owl:Class GO:1901857 biolink:NamedThing positive regulation of cellular respiration Any process that activates or increases the frequency, rate or extent of cellular respiration. tmpte7i6ely_mondo_relaxed.owl upregulation of respiration|upregulation of oxidative metabolic process|upregulation of oxidative metabolism|up-regulation of cellular respiration|activation of cellular respiration|up-regulation of oxidative metabolic process|up regulation of oxidative metabolism|upregulation of cellular respiration|up regulation of respiration|positive regulation of oxidative metabolic process|activation of respiration|activation of oxidative metabolism|up regulation of oxidative metabolic process|up regulation of cellular respiration|positive regulation of respiration|up-regulation of oxidative metabolism|up-regulation of respiration|activation of oxidative metabolic process|positive regulation of oxidative metabolism owl:Class MONDO:0021221 biolink:NamedThing vestibulocochlear nerve neoplasm A neoplasm (disease) that involves the vestibulocochlear nerve. tmpte7i6ely_mondo_relaxed.owl neoplasm of the acoustic nerve|neoplasm of vestibulocochlear nerve|tumor of eighth cranial nerve|tumor of acoustic nerve|vestibulocochlear nerve tumor|Vestibuloacoustic nerve neoplasms|neoplasm of eighth cranial nerve|eighth cranial nerve tumor|neoplasm of acoustic nerve|tumor of the acoustic nerve|vestibulocochlear nerve neoplasms|neoplasm of the vestibulocochlear nerve|acoustic nerve tumor|eighth cranial nerve neoplasm|tumor of the vestibulocochlear nerve|acoustic nerve neoplasm|tumor of the eighth cranial nerve|eighth cranial nerve neoplasms|cranial nerve eight neoplasms|vestibulocochlear nerve neoplasm (disease)|tumor of vestibulocochlear nerve|neoplasm of the eighth cranial nerve NCIT:C5120|SCTID:387891008|UMLS:C0346330 owl:Class MONDO:0013237 biolink:NamedThing susceptibility to mononeuropathy of the median nerve, mild tmpte7i6ely_mondo_relaxed.owl mononeuropathy of the median nerve, mild|carpal tunnel syndrome, susceptibility to|MNMN OMIM:613353|UMLS:C3150596 owl:Class MONDO:0003509 biolink:NamedThing pineal region choriocarcinoma A choriocarcinoma (disease) that involves the pineal body. tmpte7i6ely_mondo_relaxed.owl choriocarcinoma of the pineal region|choriocarcinoma of pineal region|pineal area choriocarcinoma|choriocarcinoma of pineal area|pineal choriocarcinoma|choriocarcinoma of the pineal area DOID:5553|UMLS:C1335414|NCIT:C6759 owl:Class MONDO:0020596 biolink:NamedThing mucin-producing carcinoma tmpte7i6ely_mondo_relaxed.owl mucin-producing carcinoma NCIT:C27825 owl:Class UBERON:0022357 biolink:NamedThing mesentery of ileum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004325 biolink:NamedThing testicular thecoma A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl thecoma of testis|testis thecoma UMLS:C1515299|NCIT:C39952|DOID:7676 owl:Class MONDO:0037252 biolink:NamedThing thecoma An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported. tmpte7i6ely_mondo_relaxed.owl thecoma ICDO:8600/0|MESH:D013798|NCIT:C3405 owl:Class MONDO:0003158 biolink:NamedThing malignant myoepithelioma An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. tmpte7i6ely_mondo_relaxed.owl myoepithelioma, malignant|soft tissue myoepithelial carcinoma|myoepithelial carcinoma|myoepithelioma carcinoma|malignant myoepithelioma ONCOTREE:STMYEC|GARD:0010558|DOID:4838|ICDO:8982/3|UMLS:C0334699|NCIT:C7596 https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma owl:Class MONDO:0002380 biolink:NamedThing myoepithelial tumor A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. tmpte7i6ely_mondo_relaxed.owl myoepithelioma|myoepithelial tumor|myoepithelial neoplasm|myoepithelial adenoma|benign myoepithelioma ICDO:8982/1|MESH:D009208|UMLS:C1947949|ICDO:8982/0|DOID:2661|UMLS:C0027070|NCIT:C40392 owl:Class MONDO:0023699 biolink:NamedThing Maroteaux Fonfria syndrome tmpte7i6ely_mondo_relaxed.owl apert syndrome with polydactyly of hands and feet|apparent apert syndrome with polydactyly OMIM:101200|GARD:0003397|MESH:C536023|UMLS:C2931088 https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome owl:Class MONDO:0001527 biolink:NamedThing conjugate gaze palsy tmpte7i6ely_mondo_relaxed.owl palsy of conjugate gaze ICD9:378.81|DOID:12445|UMLS:C0702143|SCTID:1534008 owl:Class MONDO:0003360 biolink:NamedThing small intestine leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of small intestine|leiomyosarcoma of the small bowel|small intestinal leiomyosarcoma|small intestine leiomyosarcoma|leiomyosarcoma of small bowel|small bowel leiomyosarcoma|leiomyosarcoma of the small intestine|smooth muscle connective tissue tumor Orphanet:104076|NCIT:C7085|ICD10:C17.3|ICD10:C17.0|ICD10:C17.8|ICD10:C17.1|SCTID:716651004|DOID:5271|ICD10:C17.2|UMLS:C0920305 owl:Class UBERON:0001978 biolink:NamedThing parenchyma of pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015788 biolink:NamedThing symptomatic form of hemophilia B in female carriers A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. tmpte7i6ely_mondo_relaxed.owl Orphanet:177929|ICD10:D67|UMLS:CN200370 owl:Class MONDO:0010604 biolink:NamedThing hemophilia B Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. tmpte7i6ely_mondo_relaxed.owl congenital factor IX disorder|congenital factor IX deficiency|hemophilia type B|HEMB|F9 deficiency|Christmas disease|deficiency, functional factor IX|hem B|hemophilia B Leyden|hemophilia B(M)|factor 9 deficiency|hereditary Factor IX deficiency disease|hereditary Factor IX deficiency|plasma thromboplastin component deficiency|hemophilia B|factor IX deficiency EFO:0009154|UMLS:C0008533|OMIM:306900|MedDRA:10016077|MESH:D002836|Orphanet:98879|ICD10:D67|DOID:12259|ICD9:286.1|NCIT:C26721|GARD:0008732|SCTID:41788008 https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b owl:Class MONDO:0002675 biolink:NamedThing neurofibrosarcoma A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) tmpte7i6ely_mondo_relaxed.owl neurosarcoma|neurosarcoma [obs] DOID:3512|MESH:D018319|GARD:0008211 owl:Class UBERON:0010260 biolink:NamedThing umbilical blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001576 biolink:NamedThing telangiectasis Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. tmpte7i6ely_mondo_relaxed.owl telangiectasia DOID:1272|UMLS:C0039446|MESH:D013684|NCIT:C28194|SCTID:247479008 owl:Class MONDO:0021658 biolink:NamedThing vascular ectasia tmpte7i6ely_mondo_relaxed.owl vascular ectasia NCIT:C45481|UMLS:C0002959 owl:Class MONDO:0010223 biolink:NamedThing ichthyosis, X-linked, without steroid sulfatase deficiency tmpte7i6ely_mondo_relaxed.owl ichthyosis, X-linked, without steroid sulfatase deficiency MESH:C564729|UMLS:C1848387|Orphanet:461|OMIM:300001 owl:Class MONDO:0015609 biolink:NamedThing advanced sleep phase syndrome Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. tmpte7i6ely_mondo_relaxed.owl familial advanced sleep-phase syndrome|FASPS|familial advanced sleep phase syndrome|advanced sleep phase syndrome, familial DOID:0050628|Orphanet:164736|GARD:0009242|OMIM:616882|SCTID:715829003|OMIM:615224|OMIM:604348|OMIMPS:604348|ICD10:G47.2 owl:Class HP:0009124 biolink:NamedThing Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. tmpte7i6ely_mondo_relaxed.owl Abnormality of adipose tissue|Abnormality of fat tissue|Abnormality of fatty tissue UMLS:C4021524 peter 2008-04-05T11:40:00Z human_phenotype owl:Class MONDO:0001393 biolink:NamedThing peripheral focal chorioretinitis tmpte7i6ely_mondo_relaxed.owl ICD9:363.04|UMLS:C0339394|DOID:11864|SCTID:56787009 owl:Class HGNC:8907 biolink:NamedThing PGM3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000002 biolink:NamedThing Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. tmpte7i6ely_mondo_relaxed.owl Abnormality of body height UMLS:C4025901 peter 2008-02-27T02:20:00Z human_phenotype owl:Class MONDO:0014865 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CSF3R deficiency tmpte7i6ely_mondo_relaxed.owl SCN7|neutropenia, Severe congenital, 7, autosomal recessive|neutropenia, severe congenital, 7, autosomal recessive Orphanet:420702|UMLS:C4310764|ICD10:D70|OMIM:617014 owl:Class MONDO:0002335 biolink:NamedThing chronic inflammatory demyelinating polyneuritis An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms. tmpte7i6ely_mondo_relaxed.owl chronic inflammatory demyelinating polyneuropathy ICD10:G61.81|NCIT:C84636|SCTID:444728005|SCTID:128209004|ICD9:357.81|DOID:2536|MESH:D020277 Editor note: todo add polyneuritis owl:Class UBERON:0012320 biolink:NamedThing cervical artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016207 biolink:NamedThing phacoanaphylactic uveitis Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins. tmpte7i6ely_mondo_relaxed.owl lens-induced uveitis|lens-induced endophthalmitis|endophthalmitis phacoanaphylactica|lens-induced iridocyclitis|Phacoallergic endophthalmitis|Phako-anaphylactic endophthalmitis|Phacoantigenic endophthalmitis ICD10:H20.2|Orphanet:209959|UMLS:C1444621|SCTID:410494003 owl:Class HGNC:13586 biolink:NamedThing FBXO7 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26607 biolink:NamedThing saturated fatty acid Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess. tmpte7i6ely_mondo_relaxed.owl saturated fatty acid|saturated fatty acids|SFA|SFAs owl:Class MONDO:0001388 biolink:NamedThing glans penis cancer A malignant neoplasm involving the glans penis. tmpte7i6ely_mondo_relaxed.owl cancer of glans penis|malignant tumour of glans penis|malignant neoplasm of glans penis|glans penis cancer|malignant glans penis neoplasm|malignant tumor of glans penis ICD10:C60.1|UMLS:C0153599|DOID:11839|ICD9:187.2|SCTID:363451005 owl:Class CL:1000310 biolink:NamedThing adipocyte of epicardial fat of right ventricle A fat cell that is part of the epicardial fat of right ventricle. tmpte7i6ely_mondo_relaxed.owl epicardial adipocyte of right ventricle|epicardial fat cell of right ventricle FMA:261297 cell owl:Class CL:1000309 biolink:NamedThing epicardial adipocyte A fat cell that is part of the epicardial fat. tmpte7i6ely_mondo_relaxed.owl epicardial fat cell|adipocyte of epicardial fat FMA:261293 cell owl:Class MONDO:0000894 biolink:NamedThing mucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. tmpte7i6ely_mondo_relaxed.owl DOID:0080185 owl:Class MONDO:0020657 biolink:NamedThing human papillomavirus-related squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl human papillomavirus-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma|HPV-related squamous cell carcinoma|human papilloma virus related squamous cell carcinoma NCIT:C27683 owl:Class IAO:0000005 biolink:NamedThing objective specification a directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved.|A directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002602 biolink:NamedThing annulus pulposus cell tmpte7i6ely_mondo_relaxed.owl anulus pulposus cell tmeehan 2011-03-06T06:50:53Z cell owl:Class MONDO:0004101 biolink:NamedThing multicentric papillary thyroid carcinoma A papillary carcinoma arising from the thyroid gland from multiple foci. tmpte7i6ely_mondo_relaxed.owl multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid gland carcinoma|multicentric papillary thyroid carcinoma DOID:7086|UMLS:C1334817|NCIT:C37304 owl:Class NCBITaxon:49274 biolink:NamedThing Solanum subgen. Lycopersicon tmpte7i6ely_mondo_relaxed.owl Lycopersicon GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4107 biolink:NamedThing Solanum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:4080|NCBITaxon:49275 ncbi_taxonomy owl:Class MONDO:0010876 biolink:NamedThing recessive aplasia cutis congenita of limbs Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980. tmpte7i6ely_mondo_relaxed.owl congenital absence of skin on the upper or lower limbs|aplasia cutis congenita of limbs, autosomal recessive|recessive aplasia cutis congenita of the limbs|aplasia cutis congenita of limbs recessive OMIM:600360|GARD:0000754|ICD10:Q84.8|UMLS:C1838206|MESH:C536840|Orphanet:1115|SCTID:723500009 https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive owl:Class GO:0060591 biolink:NamedThing chondroblast differentiation The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. tmpte7i6ely_mondo_relaxed.owl chondrocyte progenitor cell differentiation owl:Class HGNC:120 biolink:NamedThing ACOX2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:139589 biolink:NamedThing retinoid anion A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group. tmpte7i6ely_mondo_relaxed.owl retinoid carboxylic acid anion|retinoate|retinoid carboxylic acid anions|retinoid carboxylate anions|retinoid carboxylate anion|retinoates|retinoid anions owl:Class MONDO:0000514 biolink:NamedThing bone squamous cell carcinoma A squamous cell carcinoma that involves the bone tissue. tmpte7i6ely_mondo_relaxed.owl bone tissue squamous cell carcinoma DOID:0050896 owl:Class GO:0002720 biolink:NamedThing positive regulation of cytokine production involved in immune response Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpte7i6ely_mondo_relaxed.owl activation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|positive regulation of cytokine biosynthetic process involved in immune response|up-regulation of cytokine production during immune response|upregulation of cytokine production during immune response|up regulation of cytokine production during immune response|stimulation of cytokine production during immune response|positive regulation of cytokine production during immune response owl:Class MONDO:0100095 biolink:NamedThing neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. tmpte7i6ely_mondo_relaxed.owl CONDSIAS|neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures DOID:0070352|OMIM:618170 http://orcid.org/0000-0001-5208-3432 MONDO:0032576 owl:Class MONDO:0013532 biolink:NamedThing protein Z deficiency tmpte7i6ely_mondo_relaxed.owl protein Z deficiency UMLS:C3151465|OMIM:614024 owl:Class HGNC:7711 biolink:NamedThing NDUFS4 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:59848 biolink:NamedThing Chrysopsini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006173 biolink:NamedThing pronephric proximal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009610 biolink:NamedThing forebrain neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010063 biolink:NamedThing corneal-cerebellar syndrome A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy with spinocerebellar Degeneration|corneal-cerebellar syndrome|corneal cerebellar syndrome|spinocerebellar degeneration corneal dystrophy|spinocerebellar degeneration and corneal dystrophy|Der Kaloustian Jarudi Khoury syndrome|spinocerebellar degeneration-corneal dystrophy syndrome|Der Kaloustian-Jarudi-Khoury syndrome OMIM:271310|GARD:0001525|Orphanet:3177|MESH:C535472|SCTID:720750004|ICD10:G11.1|UMLS:C1849087 owl:Class MONDO:0018690 biolink:NamedThing Holmes-Adie syndrome A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. tmpte7i6ely_mondo_relaxed.owl Holmes-Adie syndrome|poorly Reacting pupils|Adie pupil|tonic pupil-tendon areflexia syndrome|Adie's pupil or syndrome|tonic pupil|Adie's syndrome|Adie syndrome|Adie's pupil|Adie's pupil syndrome|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes Orphanet:454718|DOID:11549|MESH:D000270|EFO:0004126|GARD:0005749|UMLS:C0001519|OMIM:103100|ICD10:H57.0|NCIT:C34357|SCTID:24225004 owl:Class MONDO:0013560 biolink:NamedThing Hermansky-Pudlak syndrome 8 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene. tmpte7i6ely_mondo_relaxed.owl HPS8|BLOC1S3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|Hermansky-Pudlak syndrome type 8|Hermansky-Pudlak syndrome 8 UMLS:C3888026|OMIM:614077|Orphanet:231537|Orphanet:79430|DOID:0060546|ICD10:E70.3|UMLS:CN201510 owl:Class MONDO:0010803 biolink:NamedThing Eiken syndrome Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. tmpte7i6ely_mondo_relaxed.owl Eiken skeletal dysplasia|bone modeling defect of hands and feet|Eiken syndrome Orphanet:79106|DOID:0111732|OMIM:600002|SCTID:720863002|UMLS:C1838779|MESH:C564010 owl:Class MONDO:0003340 biolink:NamedThing malignant glomus tumor A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl glomangiosarcoma|malignant glomus tumor|malignant glomus neoplasm|glomus tumor, malignant UMLS:C1266111|ICDO:8711/3|ICDO:8710/3|NCIT:C4221|ONCOTREE:MGST|DOID:5233 owl:Class MONDO:0003742 biolink:NamedThing heart fibrosarcoma A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl fibrosarcoma of heart|cardiac fibrosarcoma|heart fibrosarcoma (disease)|heart fibrosarcoma|fibrosarcoma of the heart|Cardiac fibrosarcoma DOID:6033|NCIT:C5361|UMLS:C1332844 owl:Class MONDO:0003354 biolink:NamedThing heart sarcoma A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas. tmpte7i6ely_mondo_relaxed.owl heart sarcoma|cardiac sarcoma|sarcoma of heart|sarcoma of the heart|Cardiac sarcoma DOID:5262|UMLS:C0238152|NCIT:C7723 owl:Class MONDO:0012253 biolink:NamedThing multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia OMIM:609324|ICD10:Q77.3|Orphanet:166029|MESH:C563736|UMLS:C1836315 owl:Class MONDO:0011867 biolink:NamedThing microphthalmia with cyst, bilateral facial clefts, and limb anomalies tmpte7i6ely_mondo_relaxed.owl microphthalmia with cyst, bilateral facial clefts, and limb anomalies OMIM:607597|UMLS:C1843492|MESH:C564370 owl:Class GO:0045719 biolink:NamedThing negative regulation of glycogen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpte7i6ely_mondo_relaxed.owl down regulation of glycogen biosynthetic process|negative regulation of glycogen anabolism|inhibition of glycogen biosynthetic process|negative regulation of glycogen biosynthesis|negative regulation of glycogen formation|downregulation of glycogen biosynthetic process|negative regulation of glycogen synthesis|down-regulation of glycogen biosynthetic process owl:Class CHEBI:35480 biolink:NamedThing analgesic An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004315 biolink:NamedThing cholangiolocellular carcinoma An intrahepatic cholangiocarcinoma that arises from the canals of Hering. tmpte7i6ely_mondo_relaxed.owl cholangiolocellular carcinoma|CLC|cholangiocarcinoma of intralobular bile duct|intralobular bile duct cholangiocarcinoma DOID:7642|NCIT:C41617|UMLS:C1516490 owl:Class MONDO:0008635 biolink:NamedThing uterine anomalies tmpte7i6ely_mondo_relaxed.owl uterine anomalies OMIM:192000|MESH:C562565 owl:Class MONDO:0013279 biolink:NamedThing long QT syndrome 13 Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene. tmpte7i6ely_mondo_relaxed.owl LQT13|long QT syndrome 13|long QT syndrome type 13|KCNJ5 long QT syndrome|long QT syndrome caused by mutation in KCNJ5 ICD10:I45.8|Orphanet:768|UMLS:C3150733|DOID:0110654|OMIM:613485|Orphanet:101016 owl:Class MONDO:0005272 biolink:NamedThing refractory anemia A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl RA|aregenerative anemia UMLS:C0002893|ICD10:D46.7|Orphanet:98826|NCIT:C2872|ICD9:238.72|MedDRA:10038269|SCTID:109996008|ICDO:9980/3|MESH:D000753|EFO:0003802 owl:Class MONDO:0012003 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 39 An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness. tmpte7i6ely_mondo_relaxed.owl HGF autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 39|autosomal recessive nonsyndromic deafness type 39|autosomal recessive deafness 39|DFNB39|autosomal recessive nonsyndromic deafness caused by mutation in HGF|deafness, autosomal recessive 39|autosomal recessive nonsyndromic deafness 39 OMIM:608265|NCIT:C129874|DOID:0110497|MESH:C564265|UMLS:C1842342|Orphanet:90636|ICD10:H90.3 owl:Class MONDO:0009793 biolink:NamedThing orofaciodigital syndrome III Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. tmpte7i6ely_mondo_relaxed.owl orofaciodigital syndrome type III|orofaciodigital syndrome 3|oral facial digital syndrome type 3|Ofds 3|OFD3|oral facial digital syndrome 3|orofaciodigital syndrome III|orofaciodigital syndrome type 3|oral-Facial-digital syndrome, type 3|OFD syndrome 3|Sugarman syndrome|oral-facial-digital syndrome type 3 DOID:0060373|SCTID:239030004|Orphanet:2752|ICD10:Q87.0|MESH:C557817|OMIM:258850|GARD:0010518 https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 owl:Class UBERON:0014795 biolink:NamedThing pelvic appendage muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011575 biolink:NamedThing cerebrooculonasal syndrome Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. tmpte7i6ely_mondo_relaxed.owl cerebrooculonasal syndrome UMLS:C1854108|SCTID:720855003|ICD10:Q87.0|GARD:0003480|Orphanet:66625|OMIM:605627|MESH:C565313 https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome owl:Class MONDO:0042913 biolink:NamedThing Schrander-stumpel-Theunissen-Hulsmans syndrome tmpte7i6ely_mondo_relaxed.owl vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism|vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|Schrander-Stumpel Theunissen Hulsmans syndrome GARD:0000256|UMLS:C2931275|MESH:C536639 owl:Class MONDO:0000940 biolink:NamedThing trypanosomiasis Infection with protozoa of the genus trypanosoma. tmpte7i6ely_mondo_relaxed.owl Trypanosoma caused disease or disorder|Trypanosoma disease or disorder|Trypanosomiases|Trypanosoma infectious disease ICD9:086.9|DOID:10113|ICD10:B56|ICD9:086|UMLS:C0041227|MESH:D014352|ICD10:B57.2|SCTID:78940002 owl:Class MONDO:0015841 biolink:NamedThing partial septate uterus Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. tmpte7i6ely_mondo_relaxed.owl subtotal septate uterus|uterus subseptus SCTID:5364006|ICD10:Q51.2|Orphanet:180129 owl:Class GO:0035228 biolink:NamedThing negative regulation of glutamate-cysteine ligase activity Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase. tmpte7i6ely_mondo_relaxed.owl inhibition of glutamate-cysteine ligase activity|down-regulation of glutamate-cysteine ligase activity|downregulation of glutamate-cysteine ligase activity|down regulation of glutamate-cysteine ligase activity owl:Class GO:0008483 biolink:NamedThing transaminase activity Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. tmpte7i6ely_mondo_relaxed.owl aminotransferase activity owl:Class HP:0001387 biolink:NamedThing Joint stiffness Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. tmpte7i6ely_mondo_relaxed.owl Stiff joint|Stiff joints|Joint stiffness UMLS:C0162298|SNOMEDCT_US:84445001 HP:0003033|HP:0002775 human_phenotype owl:Class MONDO:0002768 biolink:NamedThing true hermaphroditism A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. tmpte7i6ely_mondo_relaxed.owl ovotestis|true hermaphroditism|hermaphroditism UMLS:C0019269|NCIT:C85207|PATO:0001340|MESH:D012734|DOID:3763|NCIT:C45909|SCTID:237821001 owl:Class MONDO:0017928 biolink:NamedThing 9p13 microdeletion syndrome 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). tmpte7i6ely_mondo_relaxed.owl monosomy 9p13|Del(9)(p13) ICD10:Q93.5|UMLS:CN204067|SCTID:764725008|Orphanet:324313 owl:Class MONDO:0019125 biolink:NamedThing relapsing polychondritis Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. tmpte7i6ely_mondo_relaxed.owl chronic atrophic polychondritis|chondromalacia, systemic|recurrent polychondritis NCIT:C157268|ICD10:M94.1|EFO:1001148|MESH:D011081|Orphanet:728|SCTID:72275000|MedDRA:10038304|GARD:0007417|UMLS:C0032453|DOID:2556|ICD9:733.99 https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis owl:Class MONDO:0000807 biolink:NamedThing latex allergy Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. tmpte7i6ely_mondo_relaxed.owl SCTID:300916003|DOID:0060532|MESH:D020315|ICD9:995.3|ICD9:V15.07|ICD9:989.82 Editor note: TODO request owl:Class GO:0032997 biolink:NamedThing Fc receptor complex A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. tmpte7i6ely_mondo_relaxed.owl Fc-receptor complex|FcR complex|immunoglobulin receptor complex owl:Class MONDO:0010756 biolink:NamedThing Von Willebrand disease, X-linked form tmpte7i6ely_mondo_relaxed.owl Von Willebrand disease, X-linked|Von Willebrand disease, X-linked form Orphanet:903|UMLS:C1839113|OMIM:314560|MESH:C564041 owl:Class OBO:CHR_9606-chr14q11 biolink:NamedThing 14q11 (Human) tmpte7i6ely_mondo_relaxed.owl 24100000 17200000 hg38 owl:Class UBERON:0011277 biolink:NamedThing nail of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044993 biolink:NamedThing sympathetic nervous system disorder A disease or disorder that involves the sympathetic nervous system. tmpte7i6ely_mondo_relaxed.owl disorder of sympathetic nervous system|sympathetic nervous system disease or disorder|sympathetic nervous system disease|disease of sympathetic nervous system|disease or disorder of sympathetic nervous system SCTID:50330009 owl:Class HGNC:11257 biolink:NamedThing SPR tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3133 biolink:NamedThing EBP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008950 biolink:NamedThing cerebral sclerosis similar to Pelizaeus-Merzbacher disease tmpte7i6ely_mondo_relaxed.owl cerebral sclerosis similar to Pelizaeus-Merzbacher disease MESH:C536318|OMIM:213900|GARD:0007348|Orphanet:702 https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease owl:Class MONDO:0018417 biolink:NamedThing autosomal recessive spastic paraplegia type 60 tmpte7i6ely_mondo_relaxed.owl SPG60 ICD10:G11.4|UMLS:CN226122|Orphanet:401800 owl:Class MONDO:0016030 biolink:NamedThing Evans syndrome Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. tmpte7i6ely_mondo_relaxed.owl autoimmune hemolytic anemia and autoimmune thrombocytopenia|Evan syndrome|immune pancytopenia|Evans' syndrome Orphanet:1959|SCTID:75331009|GARD:0006389|DOID:8931|MESH:C536380|UMLS:C0272126|MedDRA:10053873|ICD10:D69.3|ICD9:287.32|ICD10:D69.41|NCIT:C61284 https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome owl:Class UBERON:0004262 biolink:NamedThing upper leg skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006285 biolink:NamedThing major salivary gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpte7i6ely_mondo_relaxed.owl major salivary gland salivary gland carcinoma ex pleomorphic adenoma|major salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of Major salivary gland|carcinoma ex pleomorphic adenoma of the Major salivary gland EFO:1000345|UMLS:C1334550|NCIT:C5975 owl:Class MONDO:0019476 biolink:NamedThing primary cutaneous peripheral T-cell lymphoma not otherwise specified tmpte7i6ely_mondo_relaxed.owl primary cutaneous unspecified peripheral T-cell lymphoma Orphanet:86885|MedDRA:10034623|ICD10:C84.4 owl:Class MONDO:0013012 biolink:NamedThing inflammatory bowel disease 27 An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3 tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 27|IBD27|inflammatory bowel disease 27 DOID:0110902|OMIM:612796|UMLS:C2748550|MESH:C567559 owl:Class MONDO:0009820 biolink:NamedThing osteoporosis-pseudoglioma syndrome Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. tmpte7i6ely_mondo_relaxed.owl pseudoglioma with bone fragility|osteogenesis imperfecta, ocular form|osteogenesis imperfecta ocular form|osteoporosis-pseudoglioma syndrome|OPPG|ocular form of osteogenesis imperfecta|Ops|osteoporosis pseudoglioma syndrome Orphanet:2788|MESH:C536063|NCIT:C130998|GARD:0004160|DOID:0060849|UMLS:C0432252|MedDRA:10052452|ICD10:Q87.5|OMIM:259770 https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome owl:Class MONDO:0011927 biolink:NamedThing tufted angioma Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. tmpte7i6ely_mondo_relaxed.owl tufted hemangioma|angioblastoma of Nakagawa|tufted skin angioma|Nakagawa angioblastoma|angioma tufted|tufted angioma of the skin|tufted hemangioma of skin|tufted hemangioma of the skin|tufted angioma of skin|tufted angioma|tufted angioma (disease)|angioma, tufted tufted angioma (disease) HP:0012329|ICDO:9161/0|SCTID:705155008|NCIT:C4487|GARD:0000425|UMLS:C0346073|ICD9:215.9|ICD10:D18.0|Orphanet:1063|MESH:C536924|OMIM:607859 owl:Class HGNC:14357 biolink:NamedThing MMP21 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004773 biolink:NamedThing steryl-sulfatase activity Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + sulfate. tmpte7i6ely_mondo_relaxed.owl phenolic steroid sulfatase activity|steryl-sulphatase activity|dehydroepiandrosterone sulfatase activity|sterol sulfatase activity|steryl-sulfate sulfohydrolase activity|steroid 3-sulfatase activity|3-beta-hydroxysteroid sulfate sulfatase activity|pregnenolone sulfatase activity|arylsulfatase C activity|dehydroepiandrosterone sulfate sulfatase activity|steroid sulfatase activity|steroid sulfate sulfohydrolase activity owl:Class HGNC:6172 biolink:NamedThing STT3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060733 biolink:NamedThing humerofemoral hypoplasia with radiotibial ray deficiency tmpte7i6ely_mondo_relaxed.owl Hfhrtrd|humerofemoral hypoplasia with radiotibial ray deficiency|HHRRD UMLS:CN248526|OMIM:618022 owl:Class HGNC:6512 biolink:NamedThing LARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035809 biolink:NamedThing regulation of urine volume Any process that modulates the amount of urine excreted from the body over a unit of time. tmpte7i6ely_mondo_relaxed.owl regulation of urine flow|regulation of urinary volume owl:Class MONDO:0002234 biolink:NamedThing vaginitis A non-infectious or infectious inflammatory process affecting the vagina. tmpte7i6ely_mondo_relaxed.owl vaginal Inflammation|vaginitis|vaginal inflammation|inflammation of vagina|vaginitis (disease)|vagina inflammation vaginitis (disease) EFO:0005757|ICD9:616.1|UMLS:C0042267|SCTID:30800001|HP:0030683|ICD9:616.10|DOID:2170|NCIT:C26911|MESH:D014627 owl:Class HGNC:7609 biolink:NamedThing MYO9B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012530 biolink:NamedThing palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. tmpte7i6ely_mondo_relaxed.owl palmoplantar hyperkeratosis and true hermaphroditism|palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome|palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal MESH:C567165|OMIM:610644|Orphanet:85112|ICD10:Q56.0 owl:Class MONDO:0006397 biolink:NamedThing renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. tmpte7i6ely_mondo_relaxed.owl Xp11.2 translocation-related renal cell carcinoma|translocation-associated renal cell carcinoma|tRCC|TFE3-Rearranged renal cell carcinoma|renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions|renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions ONCOTREE:TRCC|UMLS:C1337036|ICDO:0000/0|EFO:1000508|NCIT:C27891 owl:Class GO:1904320 biolink:NamedThing positive regulation of smooth muscle contraction involved in micturition Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpte7i6ely_mondo_relaxed.owl upregulation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of urinary bladder smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in micturition|up-regulation of smooth muscle contraction involved in urination|up-regulation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of smooth muscle contraction involved in urination|up regulation of urinary bladder smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in urination|up-regulation of smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in urination|activation of urinary bladder smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in urination owl:Class UBERON:0011865 biolink:NamedThing corneal stroma collagen fibril tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010919 biolink:NamedThing varicella, severe recurrent tmpte7i6ely_mondo_relaxed.owl varicella, severe recurrent OMIM:600670|MESH:C563458|UMLS:C1833487 owl:Class PATO:0001992 biolink:NamedThing cellularity An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005783 biolink:NamedThing hemopericardium An accumulation of blood within the pericardial sac. tmpte7i6ely_mondo_relaxed.owl hemopericardium (disease)|hemopericardium|haemopericardium hemopericardium (disease) ICD9:423.0|SCTID:23412002|UMLS:C0019064|HP:0011851|EFO:0007298|NCIT:C111644|DOID:11482 owl:Class MONDO:0020203 biolink:NamedThing pigmented conjunctival lesion tmpte7i6ely_mondo_relaxed.owl Orphanet:98615 owl:Class HGNC:23573 biolink:NamedThing MORC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006676 biolink:NamedThing beriberi Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. tmpte7i6ely_mondo_relaxed.owl vitamin B1 deficiency|thiamine deficiency|Beri Beri UMLS:C0005122|MedDRA:10004482|ICD9:265.0|GARD:0009948|EFO:1000837|NCIT:C34418|MESH:D001602|SCTID:36656008|ICD10:E51.1|DOID:13725|ICD10:E51.11|DOID:0070313 Editor note: check if beriberi should be made a subclass of TD https://rarediseases.info.nih.gov/diseases/9948/beriberi owl:Class MONDO:0006784 biolink:NamedThing hemorrhagic disease of newborn A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. tmpte7i6ely_mondo_relaxed.owl vitamin K deficiency bleeding in newborn|hemorrhagic disease of newborn ICD9:776.0|MedDRA:10019601|EFO:1000964|ICD10:P53|NCIT:C111857|SCTID:12546009|MESH:D006475 owl:Class CHEBI:33637 biolink:NamedThing ortho-fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. tmpte7i6ely_mondo_relaxed.owl ortho-fused polycyclic compounds|ortho-fused compounds owl:Class CHEBI:35293 biolink:NamedThing fused compound tmpte7i6ely_mondo_relaxed.owl fused-ring polycyclic compound|fused-ring polycyclic compounds|polycyclic fused-ring compounds|fused polycyclic compounds|fused compounds owl:Class MONDO:0022775 biolink:NamedThing cleft lip and palate malrotation cardiopathy tmpte7i6ely_mondo_relaxed.owl GARD:0001371 https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy owl:Class GO:0030001 biolink:NamedThing metal ion transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl heavy metal ion transport|divalent metal ion transport owl:Class MONDO:0012685 biolink:NamedThing major affective disorder 5 tmpte7i6ely_mondo_relaxed.owl major affective disorder 5|MAJOR affective disorder 5|bipolar affective disorder|MAFD5 MESH:C567074|OMIM:611535 owl:Class MONDO:0023147 biolink:NamedThing fetal parainfluenza virus type 3 syndrome A syndrome caused by HPIV-3. tmpte7i6ely_mondo_relaxed.owl Human respirovirus 3 infectious embryofetopathy|Human respirovirus 3 caused infectious embryofetopathy GARD:0002309 https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome owl:Class HGNC:14544 biolink:NamedThing WNK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019235 biolink:NamedThing inborn disorder of phenylalanin or tyrosine metabolism tmpte7i6ely_mondo_relaxed.owl disorder of phenylalanin or tyrosine metabolism UMLS:CN227599|Orphanet:79190 owl:Class UBERON:8410048 biolink:NamedThing venule of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020437 biolink:NamedThing atrial septal defect, ostium primum type Atrioventricular septal defect with communication at the atrial level only. tmpte7i6ely_mondo_relaxed.owl atrioventricular defect with atrial shunting only|incomplete atrioventricular canal defect with isolated atrial component|incomplete atrioventricular septal defect with isolated atrial component|partial atrioventricular septal defect: ostium primum type|PAVSD|atrial septal defect ostium primum|partial atrioventricular septal defect|ASD, ostium primum type|PAVC|partial atrioventricular canal defect with isolated atrial component|ostium primum ASD|primum atrial septal defect|ASD ostium primum type SCTID:17718000|MESH:C548006|UMLS:C0031192|GARD:0010695|ICD10:Q21.2|Orphanet:99106|MESH:D006344 https://github.com/monarch-initiative/mondo/issues/3879 owl:Class NCBITaxon:134742 biolink:NamedThing Sigmodon alstoni tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:42414 biolink:NamedThing Sigmodon tmpte7i6ely_mondo_relaxed.owl cotton rats GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043589 biolink:NamedThing femoral neck fracture Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES. tmpte7i6ely_mondo_relaxed.owl femur neck fractures|neck of femur bone fracture|fracture of neck of femur|fracture of hip|bone fracture of neck of femur|nof - fracture of neck of femur|femoral neck fracture|femur neck fracture MESH:D005265|EFO:1001792|SCTID:5913000 owl:Class MONDO:0001617 biolink:NamedThing transient global amnesia A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event. tmpte7i6ely_mondo_relaxed.owl transient global amnesia|transient global amnesia (disease) transient global amnesia (disease) GARD:0008172|ICD9:437.7|MESH:D020236|DOID:13027|ICD10:G45.4|NCIT:C85198|HP:0010534 owl:Class CL:0000948 biolink:NamedThing IgE memory B cell A class switched memory B cell that expresses IgE on the cell surface. tmpte7i6ely_mondo_relaxed.owl memory IgE B-cell|IgE memory B-lymphocyte|memory IgE B-lymphocyte|IgE memory B-cell|memory IgE B lymphocyte|memory IgE B cell|IgE memory B lymphocyte cell owl:Class HP:0003112 biolink:NamedThing Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormality of serum amino acid level|Abnormality of serum amino acid levels UMLS:C4025653 human_phenotype owl:Class HP:0004354 biolink:NamedThing Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025344 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter 2008-03-17T01:11:00Z human_phenotype owl:Class MONDO:0037821 biolink:NamedThing porphyrin metabolism disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of porphyrin-containing compound metabolic process|porphyrin-containing compound metabolic process disease|disorder of porphyrin and heme metabolism|disorder of porphyrin metabolism SCTID:29094004 owl:Class MONDO:0009713 biolink:NamedThing myopia 18, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MYP18|myopia 18, autosomal recessive OMIM:255500|UMLS:C2749509|MESH:C567606 owl:Class HGNC:4336 biolink:NamedThing GLUD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030434 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 18 tmpte7i6ely_mondo_relaxed.owl EIG18 OMIM:619521 owl:Class HGNC:26927 biolink:NamedThing FOXRED1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006328 biolink:NamedThing odontogenic cyst A cyst in the jaw that arises from tissues of tooth development. tmpte7i6ely_mondo_relaxed.owl EFO:1000406|ICD9:526.89|MESH:D009807|SCTID:235110008|NCIT:C54220|Wikipedia:Odontogenic_cyst owl:Class MONDO:0012754 biolink:NamedThing nanophthalmos 3 tmpte7i6ely_mondo_relaxed.owl Nanophthalmia 3|nanophthalmos 3|NNO3 MESH:C567498|UMLS:C2678467|Orphanet:35612|OMIM:611897 owl:Class MONDO:0000498 biolink:NamedThing arteritic anterior ischemic optic neuropathy An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) tmpte7i6ely_mondo_relaxed.owl arteritic aion SCTID:733506009|UMLS:C2242711|DOID:0050863 owl:Class MONDO:0006649 biolink:NamedThing anterior ischemic optic neuropathy Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. tmpte7i6ely_mondo_relaxed.owl ischemic optic neuropathy|optic disc infarction leading to vision loss|aion ICD9:377.41|DOID:12010|MedDRA:10068250|MESH:D018917|GARD:0009790|EFO:1000809|ICD10:H47.01|SCTID:404659001|UMLS:C0155305 https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy owl:Class MONDO:0022037 biolink:NamedThing large-cell immunoblastic lymphoma Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan. tmpte7i6ely_mondo_relaxed.owl Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma|Immunoblastomas|Large-Cell Immunoblastic Lymphomas|LYMPHOMA LARGE IMMUNOBLASTIC|LYMPHOMA IMMUNOBLASTIC LARGE|Immunoblastic Lymphomas, Large-Cell|Large-Cell Lymphoma, Immunoblastic|IMMUNOBLASTIC LARGE LYMPHOMA|Immunoblastic Lymphosarcomas, Diffuse|Malignant lymphoma - immunoblastic|Immunoblastic Sarcoma|Diffuse Immunoblastic Lymphosarcomas|Large-Cell Lymphomas, Immunoblastic|Immunoblastic Lymphoma|Immunoblastoma|Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)|Lymphomas, Immunoblastic Large-Cell|Large Cell Immunoblastic Lymphoma|Lymphoma, Large Cell, Immunoblastic|Large-Cell Immunoblastic Lymphoma|Lymphosarcomas, Diffuse Immunoblastic|Sarcoma, Immunoblastic|Immunoblastic Large-Cell Lymphomas|Lymphoma, Large-Cell, Immunoblastic|Sarcomas, Immunoblastic|Lymphoma, Large-Cell Immunoblastic|Lymphosarcoma, Diffuse Immunoblastic|Lymphoma, Immunoblastic, Large Cell|Immunoblastic Large-Cell Lymphoma|Immunoblastic Lymphosarcoma, Diffuse|Diffuse non-Hodgkin lymphoma, immunoblastic|LARGE IMMUNOBLASTIC LYMPHOMA|Immunoblastic Sarcomas|Diffuse non-Hodgkin's lymphoma, immunoblastic|Immunoblastic malignant lymphoma - large cell|Lymphoma, Immunoblastic Large-Cell|Diffuse Immunoblastic Lymphosarcoma|Immunoblastic Lymphoma, Large-Cell|Lymphomas, Large-Cell Immunoblastic|Lymphoma, immunoblastic, high grade|Lymphoma, Immunoblastic, Large-Cell|Large cell immunoblastic lymphoma|Immunoblastic Large Cell Lymphoma GARD:0008219|MESH:D016400|UMLS:C0079746 owl:Class MONDO:0002859 biolink:NamedThing breast rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast. tmpte7i6ely_mondo_relaxed.owl rhabdomyosarcoma of the breast|breast rhabdomyosarcoma|rhabdomyosarcoma (disease) of breast|breast rhabdomyosarcoma (disease)|rhabdomyosarcoma of breast DOID:4060|NCIT:C5190|UMLS:C1332637 owl:Class MONDO:0006729 biolink:NamedThing discrete subaortic stenosis A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta. tmpte7i6ely_mondo_relaxed.owl DOID:5804|UMLS:C0012628|EFO:1000901|MESH:D021922 owl:Class MONDO:0006987 biolink:NamedThing subvalvular aortic stenosis An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. tmpte7i6ely_mondo_relaxed.owl NCIT:C85172|GARD:0005052|OMIM:185500|SCTID:204368006|MedDRA:10042431|EFO:1001199|DOID:5805|MESH:D001020|UMLS:C0340375 https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis owl:Class MONDO:0018492 biolink:NamedThing hereditary clear cell renal cell carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. tmpte7i6ely_mondo_relaxed.owl hereditary conventional (clear cell) renal cell carcinoma|hereditary clear cell renal cell carcinoma|hereditary conventional renal cell carcinoma|hereditary clear cell renal cell adenocarcinoma|Hereditary clear cell renal cell cancer|hereditary clear cell renal carcinoma UMLS:CN237493|ICD10:C64|Orphanet:422526|NCIT:C36260|OMIM:144700|SCTID:764961009|DOID:7192 MONDO:0004137 owl:Class MONDO:0014966 biolink:NamedThing periventricular nodular heterotopia 7 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene. tmpte7i6ely_mondo_relaxed.owl periventricular nodular heterotopia type 7|PVNH7|periventricular nodular heterotopia 7; PVNH7|periventricular nodular heterotopia 7|periventricular nodular heterotopia caused by mutation in NEDD4L|NEDD4L periventricular nodular heterotopia UMLS:C4310669|OMIM:617201 owl:Class MONDO:0000561 biolink:NamedThing spinocerebellar ataxia type 16 An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP. tmpte7i6ely_mondo_relaxed.owl SCAR16 Orphanet:98770|UMLS:CN229296|NCIT:C150250|DOID:0050966 Editor notes: Consider merging into 15/16 owl:Class UBERON:0005838 biolink:NamedThing fasciculus of brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012252 biolink:NamedThing rhabdoid tumor predisposition syndrome 1 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene. tmpte7i6ely_mondo_relaxed.owl teratoid tumor, atypical|rhabdoid tumor predisposition syndrome type 1|SMARCB1 familial rhabdoid tumor|rhabdoid tumor predisposition syndrome 1|RTPS1|familial rhabdoid tumor caused by mutation in SMARCB1|malignant rhabdoid tumor, somatic|At/RT|brain tumor, posterior fossa, of infancy, familial Orphanet:231108|UMLS:C0206743|Orphanet:99966|OMIM:609322|Orphanet:69077 owl:Class HGNC:3581 biolink:NamedThing BPTF tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17967 biolink:NamedThing IRAK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011762 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 22 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 22|autosomal recessive nonsyndromic deafness 22|autosomal recessive nonsyndromic deafness type 22|DFNB22|OTOA autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in OTOA|deafness, autosomal recessive 22|deafness, autosomal recessive type 22 ICD10:H90.3|UMLS:C1846896|DOID:0110480|OMIM:607039|MESH:C564633 owl:Class MONDO:0008092 biolink:NamedThing hereditary neutrophilia A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34. tmpte7i6ely_mondo_relaxed.owl neutrophilia, hereditary UMLS:C0543669|Orphanet:279943|DOID:0090120|ICD10:D72.8|SCTID:129639005|MESH:C563010|OMIM:162830 owl:Class GO:1903011 biolink:NamedThing negative regulation of bone development Any process that stops, prevents or reduces the frequency, rate or extent of bone development. tmpte7i6ely_mondo_relaxed.owl inhibition of bone development|down-regulation of bone development|down regulation of bone development|downregulation of bone development owl:Class MONDO:0008327 biolink:NamedThing exfoliation syndrome An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. tmpte7i6ely_mondo_relaxed.owl exfoliation glaucoma|pseudoexfoliation glaucoma|XFS|pseudoexfoliation of the lens|exfoliation syndrome|XFG|pseudoexfoliation syndrome ICD9:365.52|UMLS:C0206368|OMIM:177650|SCTID:111514006|MESH:D017889|DOID:13641|EFO:0004235|NCIT:C129025|Orphanet:529819 owl:Class PATO:0001309 biolink:NamedThing duration A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. tmpte7i6ely_mondo_relaxed.owl period|time owl:Class MONDO:0017376 biolink:NamedThing reactive arthritis Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. tmpte7i6ely_mondo_relaxed.owl Reiter's syndrome|arthritis urethritica|post-infectious reactive arthropathy|reactive arthritis|Fiessinger-Leroy disease|postdysenteric arthropathy|Reiter disease|post-infectious arthritis|Reiter's disease|polyarthritis enterica|venereal arthritis|Reiter syndrome|post-bacterial arthropathy|Fiessinger Leroy Reiter syndrome|PIRA|Fiessinger-Leroy-Reiter syndrome ICD10:M02.8|ICD9:711.30|DOID:6196|ICD9:099.3|ICD10:M02.30|ICD10:M02.1|ICD9:711.3|EFO:0007460|MedDRA:10003267|SCTID:129133005|Orphanet:29207|UMLS:C0085435|GARD:0005693|MedDRA:10038294|ICD9:711.40|UMLS:C0035012|NCIT:C128332|MESH:D016918|UMLS:CN203069|ICD10:M02.3|ICD10:M02.10 https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis owl:Class MONDO:0004170 biolink:NamedThing nodular episcleritis tmpte7i6ely_mondo_relaxed.owl ICD10:H15.12|DOID:728|UMLS:C0155352|ICD9:379.02|SCTID:70558001 owl:Class MONDO:0014343 biolink:NamedThing Desbuquois dysplasia 2 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene. tmpte7i6ely_mondo_relaxed.owl Desbuquois dysplasia caused by mutation in XYLT1|DBQD2|Baratela-Scott syndrome|Desbuquois dysplasia type 2|Desbuquois dysplasia 2|XYLT1 Desbuquois dysplasia UMLS:C4014294|OMIM:615777|Orphanet:1425|UMLS:C3550876 owl:Class MONDO:0015426 biolink:NamedThing Desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. tmpte7i6ely_mondo_relaxed.owl DBQD|micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|desbuquois syndrome|Desbuquois dysplasia OMIM:300881|ICD9:756.9|GARD:0001818|UMLS:CN239270|ICD10:Q78.8|OMIM:251450|OMIM:615777|Orphanet:1425|DOID:0060462|NCIT:C124056|OMIMPS:251450|UMLS:C0432242|SCTID:254099008 owl:Class MONDO:0032854 biolink:NamedThing zimmermann-laband syndrome 3 tmpte7i6ely_mondo_relaxed.owl ZIMMERMANN-LABAND SYNDROME 3|ZLS3 OMIM:618658 owl:Class MONDO:0016857 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. tmpte7i6ely_mondo_relaxed.owl ICD10:Q10.3|OMIM:110100|UMLS:CN202200|Orphanet:261559 owl:Class OBO:CHR_9606-chr13q12.3 biolink:NamedThing 13q12.3 (Human) tmpte7i6ely_mondo_relaxed.owl 31600000 28300000 hg38 owl:Class MONDO:0009358 biolink:NamedThing Hutterite cerebroosteonephrodysplasia syndrome tmpte7i6ely_mondo_relaxed.owl cerebroosteonephosis syndrome|Hutterite cerebroosteonephrodysplasia syndrome|cond MESH:C536074|GARD:0009956|OMIM:236450|UMLS:C1856054 https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome owl:Class GO:1905904 biolink:NamedThing positive regulation of mesoderm formation Any process that activates or increases the frequency, rate or extent of mesoderm formation. tmpte7i6ely_mondo_relaxed.owl up regulation of mesoderm formation|upregulation of mesoderm formation|up-regulation of mesoderm formation|activation of mesoderm formation owl:Class MONDO:0005585 biolink:NamedThing chemotherapy-induced hypertension A form of hypertension that occurs as a direct result of chemotherapy treatment tmpte7i6ely_mondo_relaxed.owl EFO:0005942 owl:Class PATO:0001401 biolink:NamedThing oligopotent A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001397 biolink:NamedThing cellular potency A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903960 biolink:NamedThing negative regulation of anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl downregulation of anion transmembrane transport|down regulation of anion transmembrane transport|down-regulation of anion transmembrane transport|inhibition of anion transmembrane transport owl:Class MONDO:0013241 biolink:NamedThing spinocerebellar ataxia type 30 Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia. tmpte7i6ely_mondo_relaxed.owl SCA30|spinocerebellar ataxia type 30|spinocerebellar ataxia 30 GARD:0004950|MESH:C575214|DOID:0050979|UMLS:C2936793|UMLS:C4304845|Orphanet:211017|ICD10:G11.2|OMIM:613371|SCTID:719253007 owl:Class MONDO:0002291 biolink:NamedThing cutaneous granular cell tumor A granular cell tumor that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl cutaneous granular cell tumor|granular cell skin tumor|granular cell neoplasm of the skin|granular cell tumor of skin|granular cell tumor of zone of skin|granular cell tumor of the skin|skin granular cell neoplasm|zone of skin granular cell tumor|skin granular cell tumor|granular cell neoplasm of skin|cutaneous granular cell neoplasm ICD9:215.9|NCIT:C5617|SCTID:254763007|DOID:2410|UMLS:C0346060 owl:Class MONDO:0014846 biolink:NamedThing autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 23|spinocerebellar ataxia autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive type 23|SCAR23 ICD10:G11.1|DOID:0111613|UMLS:C4310780|OMIM:616949|Orphanet:404493 owl:Class MONDO:0021176 biolink:NamedThing autoimmune hepatitis type 2 Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies. tmpte7i6ely_mondo_relaxed.owl type 2 AIH|autoimmune hepatitis type 2 UMLS:C4303163|Orphanet:563581|SCTID:721712002 owl:Class MONDO:0018701 biolink:NamedThing congenital nemaline myopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:457074 owl:Class HGNC:21478 biolink:NamedThing RFX6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003618 biolink:NamedThing pyosalpinx The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. tmpte7i6ely_mondo_relaxed.owl pyosalpingitis ICD10:N70|UMLS:C0034220|SCTID:397810006|DOID:5732|NCIT:C34968 owl:Class HGNC:2481 biolink:NamedThing CSTA tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2732408 biolink:NamedThing Pisuviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0006091 biolink:NamedThing generation of precursor metabolites and energy The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. tmpte7i6ely_mondo_relaxed.owl energy pathways|metabolic energy generation|intermediary metabolism owl:Class UBERON:0003381 biolink:NamedThing cardiac muscle of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0045055 biolink:NamedThing glycogen-rich carcinoma A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma. tmpte7i6ely_mondo_relaxed.owl Glycogen-rich carcinoma NCIT:C4153 owl:Class MONDO:0006470 biolink:NamedThing tonsillar squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass. tmpte7i6ely_mondo_relaxed.owl tonsil scc|scc of the tonsil|scc of tonsil|squamous cell carcinoma of tonsil|tonsillar scc|palatine tonsil squamous cell carcinoma|squamous cell carcinoma of the tonsil UMLS:C0280317|EFO:1000597|NCIT:C8183 owl:Class MONDO:0032765 biolink:NamedThing bleeding disorder, platelet-type, 22 tmpte7i6ely_mondo_relaxed.owl BLEEDING DISORDER, PLATELET-TYPE, 22|BDPLT22 OMIM:618462 owl:Class HP:0410243 biolink:NamedThing Abnormal circulating IgM level An abnormal deviation from normal levels of IgM immunoglobulin in blood. tmpte7i6ely_mondo_relaxed.owl Abnormal IgM level in blood 2018-10-12 20:32:45+00:00 http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class MONDO:0013272 biolink:NamedThing chromosome 14q11-q22 deletion syndrome 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl 14q11.2 microdeletion syndrome|chromosome 14q11-q22 deletion syndrome|monosomy 14q11.2|Del(14)(q11.2) ICD10:Q93.5|Orphanet:261120|UMLS:C4304999|SCTID:719047001|UMLS:C3150707|DOID:0060392|OMIM:613457 owl:Class MONDO:0016036 biolink:NamedThing Ledderhose disease Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences. tmpte7i6ely_mondo_relaxed.owl Lederhose disease|plantar fibromatosis 2022-05-01 GARD:0006873|MESH:C537000|Orphanet:199251|MedDRA:10035154|ICD10:M72.2 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease owl:Class MONDO:0013786 biolink:NamedThing cone-rod dystrophy 16 Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene. tmpte7i6ely_mondo_relaxed.owl retinal dystrophy with early macular involvement|CORD16|cone-rod dystrophy 16|retinitis pigmentosa 64|cone-rod dystrophy type 16|C8orf37 cone-rod dystrophy|cone-rod dystrophy caused by mutation in C8orf37 DOID:0111022|UMLS:C3281045|OMIM:614500 owl:Class HGNC:10914 biolink:NamedThing SLC12A6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016315 biolink:NamedThing mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis type 2, severe form|mucopolysaccharidosis type IIA|iduronate 2-sulfatase deficiency type A|mucopolysaccharidosis type 2A|MPSIIA|MPS2A|mucopolysaccharidosis type II, severe form|Hunter syndrome type A Orphanet:217085|SCTID:73146005|UMLS:CN201131|ICD10:E76.1 owl:Class MONDO:0021491 biolink:NamedThing benign neoplasm of gum A benign neoplasm that involves the gingiva. tmpte7i6ely_mondo_relaxed.owl benign neoplasm of the gum|benign tumor of the gum|benign tumor of gum|benign neoplasm of gingiva|benign gingival neoplasm|gingiva benign neoplasm|benign gingival tumor|benign neoplasm of the gingiva|benign gum tumor|benign tumor of the gingiva|benign tumor of gingiva|benign gum neoplasm ICD9:210.4|NCIT:C4598|SCTID:92126004|UMLS:C0347201 owl:Class MONDO:0000524 biolink:NamedThing mixed extragonadal germ cell cancer A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle. tmpte7i6ely_mondo_relaxed.owl DOID:0050907 owl:Class UBERON:0010042 biolink:NamedThing 1st arch mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012785 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 3 tmpte7i6ely_mondo_relaxed.owl IHPS3|pyloric stenosis, infantile hypertrophic, 3 UMLS:C2677588|MESH:C567435|OMIM:612017 owl:Class MONDO:0013437 biolink:NamedThing retinitis pigmentosa 43 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 43|PDE6A retinitis pigmentosa|RP43|retinitis pigmentosa caused by mutation in PDE6A|retinitis pigmentosa 43 DOID:0110379|UMLS:C3151139|OMIM:613810|ICD10:H35.5 owl:Class NCBITaxon:8028 biolink:NamedThing Salmo tmpte7i6ely_mondo_relaxed.owl Salmothymus|Acantholingua GC_ID:1 NCBITaxon:62064|NCBITaxon:82302 ncbi_taxonomy owl:Class MONDO:0014089 biolink:NamedThing corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome tmpte7i6ely_mondo_relaxed.owl CIDED|palmoplantar carcinoma, multiple self-healing; MSPC|palmoplantar carcinoma, multiple self-healing|corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|MSPC|corneal intraepithelial dyskeratosis and ectodermal dysplasia UMLS:C3808876|OMIM:616964|ICD10:Q82.8|Orphanet:352662|UMLS:CN204511|OMIM:615225 owl:Class MONDO:0100036 biolink:NamedThing variable age onset epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. tmpte7i6ely_mondo_relaxed.owl variable age at onset electroclinical syndrome 2018-06-23 19:42:08+00:00 http://orcid.org/0000-0001-8486-0558|DOID:0050706 owl:Class MONDO:0022804 biolink:NamedThing colobomata unilobar lung heart defect tmpte7i6ely_mondo_relaxed.owl GARD:0001442 https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect owl:Class MONDO:0013109 biolink:NamedThing leukemia, acute lymphocytic, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl leukemia, acute lymphoblastic, susceptibility to, 2|ALL2|leukemia, acute lymphocytic, susceptibility to, 2 OMIM:613067|UMLS:C2751593|Orphanet:513 owl:Class UBERON:0008822 biolink:NamedThing posterior mediastinum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007898 biolink:NamedThing leukocyte nuclear appendages, hereditary prevalence of tmpte7i6ely_mondo_relaxed.owl leukocyte nuclear appendages, hereditary prevalence of UMLS:C1835405|MESH:C563626|OMIM:151500 owl:Class MONDO:0001125 biolink:NamedThing acute gonococcal epididymo-orchitis Acute form of gonococcal epididymo-orchitis. tmpte7i6ely_mondo_relaxed.owl gonococcal epididymo-orchitis, acute|gonococcal epididymo-orchitis (acute) SCTID:30168008|DOID:10802|UMLS:C0153193|ICD9:098.13 owl:Class MONDO:0001138 biolink:NamedThing angiodysplasia of intestine A angiodysplasia that involves the intestine. tmpte7i6ely_mondo_relaxed.owl intestine angiodysplasia UMLS:C0267367|ICD9:569.85|SCTID:235853006|DOID:10846|ICD9:569.84 owl:Class MONDO:0002322 biolink:NamedThing angiodysplasia Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. tmpte7i6ely_mondo_relaxed.owl angiodysplasia of stomach and duodenum with hemorrhage UMLS:C0085411|SCTID:90858003|ICD9:537.83|MESH:D016888|DOID:2494 owl:Class NCBITaxon:35278 biolink:NamedThing unclassified ssRNA positive-strand viruses tmpte7i6ely_mondo_relaxed.owl ssRNA positive-strand viruses|unclassified ssRNA positive-strand viruses, no DNA stage|ssRNA positive-strand viruses, no DNA stage GC_ID:1 NCBITaxon:38173 ncbi_taxonomy owl:Class CHEBI:33229 biolink:NamedThing vitamin A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. tmpte7i6ely_mondo_relaxed.owl vitaminas|Vitamin|vitamina|vitamines|vitamins|vitamine|vitaminum owl:Class MONDO:0001561 biolink:NamedThing pyloric stenosis Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. tmpte7i6ely_mondo_relaxed.owl gastric outflow obstruction|pyloric stenosis (disease)|GOO|gastric outlet obstruction|pyloric stenosis pyloric stenosis (disease) NCIT:C34966|MESH:D011707|HP:0002021|EFO:1000947|MedDRA:10062499|DOID:12639|SCTID:367403001|DOID:3122|MESH:D017219|ICD10:K31.1 owl:Class MONDO:0008927 biolink:NamedThing colobomatous optic disc-macular atrophy-chorioretinopathy syndrome tmpte7i6ely_mondo_relaxed.owl optic DISC anomalies with retinal and/or macular dystrophy|ODRMD OMIM:212550|ICD10:Q14.8|DOID:0080635|UMLS:CN237578|MESH:C565876|Orphanet:2542|Orphanet:435930 owl:Class MONDO:0001668 biolink:NamedThing internal pathological resorption of tooth tmpte7i6ely_mondo_relaxed.owl internal pathological resorption|internal resorption of crown of tooth|internal granuloma of pulp|internal resorption of tooth|pink spot lesion of tooth|internal pathologic resorption|pathological tooth resorption - internal|pink tooth of mummery SCTID:52994003|ICD9:521.41|DOID:13239 owl:Class UBERON:0006535 biolink:NamedThing skin secretion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008140 biolink:NamedThing ossified ear cartilages tmpte7i6ely_mondo_relaxed.owl ossified ear cartilages OMIM:165670|MESH:C563488|UMLS:C1833791 owl:Class MONDO:0030837 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities tmpte7i6ely_mondo_relaxed.owl NEDMILEG OMIM:619092 owl:Class MONDO:0019883 biolink:NamedThing distal trisomy 9q Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. tmpte7i6ely_mondo_relaxed.owl trisomy 9qter|distal duplication 9q|distal trisomy type 9q|telomeric duplication 9q ICD10:Q92.3|Orphanet:96101|SCTID:764520001 owl:Class CHEBI:50680 biolink:NamedThing methotrexate(1-) tmpte7i6ely_mondo_relaxed.owl (2S)-4-carboxy-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)butanoate owl:Class HGNC:4053 biolink:NamedThing ISG15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000677 biolink:NamedThing semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. tmpte7i6ely_mondo_relaxed.owl DOID:0060147 owl:Class MONDO:0005862 biolink:NamedThing multiple chemical sensitivity An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) tmpte7i6ely_mondo_relaxed.owl chemical AIDS|total allergy syndrome|environmental illness|idiopathic environmental illness|20th century disease EFO:0007382|UMLS:C0242992|MESH:D018777|SCTID:702772003|DOID:4661 Editor note: consider obsoletion owl:Class MONDO:0007827 biolink:NamedThing inclusion body myositis Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. tmpte7i6ely_mondo_relaxed.owl inclusion body myopathy 3|IBM2|distal myopathy with rimmed vacuoles|IBM-3|inclusion body myopathy 2|hereditary inclusion body myopathy|Ibm|IBM|inflammatory myopathy|inclusion body myositis|sIBM|sporadic inclusion body myositis|Nonaka myopathy|HIBM|distal myopathy with rimmed vacuoles (DMRV) Orphanet:611|OMIM:605820|DOID:3429|UMLS:C0238190|ICD10:M60.8|MESH:D018979|EFO:0007323|GARD:0003896|ICD9:359.71|NCIT:C84786|ICD9:729.1|OMIM:605637|OMIM:147421|MedDRA:10066407|SCTID:72315009|ICD10:G72.41 owl:Class UBERON:0005417 biolink:NamedThing forelimb bud tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8654 biolink:NamedThing PCCB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015712 biolink:NamedThing non-distal trisomy 10q Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. tmpte7i6ely_mondo_relaxed.owl non-telomeric trisomy 10q|non-distal duplication 10q|non-distal trisomy type 10q Orphanet:1695|ICD10:Q92.3 owl:Class NCBITaxon:2560076 biolink:NamedThing Orthoparamyxovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:7455 biolink:NamedThing MT-ND1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001298 biolink:NamedThing Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:81308009|MSH:D001927|UMLS:C0085584 This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. human_phenotype owl:Class MONDO:0017227 biolink:NamedThing autoimmune pancreatitis type 1 Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. tmpte7i6ely_mondo_relaxed.owl AIP type 1|autoimmune pancreatitis type 1|IgG4-related pancreatitis|lymphoplasmacytic sclerosing pancreatitis Orphanet:280302|UMLS:C4302243|ICD10:K86.1|PMID:25985088|EFO:1000780|SCTID:722872000|UMLS:CN202712 owl:Class MONDO:0015589 biolink:NamedThing paraneoplastic limbic encephalitis A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia. tmpte7i6ely_mondo_relaxed.owl limbic encephalitis ICD9:323.81|NCIT:C4350|ICD10:G13.1|Orphanet:163895|SCTID:445014002 owl:Class UBERON:0006136 biolink:NamedThing unmyelinated nerve fiber tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003610 biolink:NamedThing rete ovarii cystadenoma An exceptionally rare cystadenoma that arises from the rete ovarii. tmpte7i6ely_mondo_relaxed.owl rete ovarii cystadenoma NCIT:C40019|DOID:5725|UMLS:C1514907 owl:Class MONDO:0018689 biolink:NamedThing plasma cell leukemia An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. tmpte7i6ely_mondo_relaxed.owl leukemia plasmacytic|leukemia, plasma cell|plasmacytic leukemia|plasma cell leukemia|PCL Orphanet:454714|DOID:9513|UMLS:C0023484|SCTID:95210003|ICD10:C90.1|ICD10:C90.10|ICDO:9733/3|MESH:D007952|EFO:0006475|ICD9:203.10|GARD:0009373|NCIT:C3180|ICD9:203.1 https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia owl:Class MONDO:0012525 biolink:NamedThing Leber congenital amaurosis 12 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene. tmpte7i6ely_mondo_relaxed.owl RD3 Leber congenital amaurosis|Leber congenital amaurosis type 12|LCA12|Leber congenital amaurosis caused by mutation in RD3|amaurosis congenita of Leber, type 12|Leber congenital amaurosis 12 MESH:C565697|OMIM:610612|DOID:0110080|ICD10:H35.5|GARD:0010489 https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12 owl:Class MONDO:0018525 biolink:NamedThing solid pseudopapillary carcinoma of pancreas A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues. tmpte7i6ely_mondo_relaxed.owl solid pseudopapillary neoplasm of the pancreas|solid pseudopapillary carcinoma of pancreas|pancreatic solid pseudopapillary carcinoma|solid pseudopapillary carcinoma of the pancreas ICD10:C25.7|Orphanet:424065|ICD10:C25.8|DOID:6827|ICD10:C25.0|ICD10:C25.2|ICD10:C25.1|EFO:1000542|UMLS:C1336029|ICDO:8452/3|NCIT:C5728 owl:Class MONDO:0006567 biolink:NamedThing kernicterus due to isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. tmpte7i6ely_mondo_relaxed.owl kernicterus - due to isoimm.|kernicterus related to isoimmunization|kernicterus due to isoimmunization of fetus or newborn NCIT:C101270|SCTID:359007|DOID:12043|ICD10:P57.0|UMLS:C0270204|EFO:1000721|ICD9:773.4 owl:Class PATO:0001481 biolink:NamedThing sloped A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005127 biolink:NamedThing lepromatous leprosy A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. tmpte7i6ely_mondo_relaxed.owl lepromatous leprosy [type L]|type L leprosy DOID:10887|UMLS:C0023348|SCTID:21560005|MESH:D015440|ICD10:A30.5|EFO:0001057|ICD9:030.0 owl:Class MONDO:0030455 biolink:NamedThing dystonia 31 tmpte7i6ely_mondo_relaxed.owl DYT31 OMIM:619565 owl:Class MONDO:0020500 biolink:NamedThing Marburg hemorrhagic fever Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. tmpte7i6ely_mondo_relaxed.owl MHF|Green monkey disease|Marburg virus disease|Marburg disease UMLS:C0024788|DOID:4327|SCTID:77503002|MedDRA:10026822|ICD10:A98.3|ICD9:078.89|Orphanet:99826|MESH:D008379|GARD:0009444|NCIT:C84883|EFO:0007358 https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever owl:Class MONDO:0006588 biolink:NamedThing nonepidermolytic palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. tmpte7i6ely_mondo_relaxed.owl Thost-Unna syndrome|Unna-Thost syndrome|diffuse palmoplantar keratoderma, Bothnian type|diffuse nonepidermolytic palmomplantar keratoderma|tylosis|non-epidermolytic palmoplantar keratoderma|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|NEPPK 2022-04-01 DOID:0050428|OMIM:613000|OMIM:600962|EFO:1000743|UMLS:C0022584|OMIM:600231|OMIM:615735|SCTID:400123002|ICD10:Q82.8|SCTID:716105001 Reason: duplicate. This will be merged with MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma Editor note: in ORDO this is AD but this leads to inconsistencies owl:Class MONDO:0011576 biolink:NamedThing familial hyperaldosteronism type II Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. tmpte7i6ely_mondo_relaxed.owl familial hyperaldosteronism type 2|FH2|FHII|hyperaldosteronism, familial, type II|FH 2|FH-II|HALD2|familial adrenal adenoma OMIM:605635|ICD10:E26.0|SCTID:703233008|Orphanet:404|MESH:C565312|GARD:0002789|UMLS:C3839212|UMLS:C1854107|NCIT:C127162 owl:Class MONDO:0025114 biolink:NamedThing protozoan infections, animal Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary. tmpte7i6ely_mondo_relaxed.owl infection, animal protozoan|infections, animal protozoan|protozoan infection, animal|animal protozoan infections|animal protozoan infection UMLS:C0033741|MESH:D011529 owl:Class MONDO:0021804 biolink:NamedThing silicotuberculosis Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population. tmpte7i6ely_mondo_relaxed.owl silicotuberculoses|silicotuberculosis SCTID:233763009|MESH:D012830|UMLS:C0037118|ICD9:502 owl:Class MONDO:0015317 biolink:NamedThing laryngotracheal angioma tmpte7i6ely_mondo_relaxed.owl SCTID:703199001|Orphanet:137935|ICD10:D18.0|UMLS:C3839574|ICD9:228.09 owl:Class HP:0100261 biolink:NamedThing Abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews. tmpte7i6ely_mondo_relaxed.owl Abnormality of the sinew|Abnormal shape of tendon UMLS:C4021026 A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. doelkens 2010-07-20T01:20:19Z human_phenotype owl:Class MONDO:0005322 biolink:NamedThing ulna fracture Fractures of the larger bone of the forearm. tmpte7i6ely_mondo_relaxed.owl bone fracture of ulna|ulna bone fracture MESH:D014458|EFO:0003950|SCTID:54556006 owl:Class MONDO:0011966 biolink:NamedThing periventricular heterotopia with microcephaly, autosomal recessive tmpte7i6ely_mondo_relaxed.owl heterotopia, periventricular, autosomal recessive|periventricular heterotopia with microcephaly, autosomal recessive|ARPHM|periventricular nodular heterotopia 2 Orphanet:2149|Orphanet:98892|OMIM:608097|UMLS:C1842563|MESH:C564292 owl:Class UBERON:0001356 biolink:NamedThing medial circumflex femoral artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032644 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3|EV3 OMIM:618267 owl:Class MONDO:0019156 biolink:NamedThing angioosteohypotrophic syndrome Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. tmpte7i6ely_mondo_relaxed.owl Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome SCTID:765750001|Orphanet:75508|UMLS:CN205707 owl:Class HGNC:22140 biolink:NamedThing FAM20C tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:8022 biolink:NamedThing Oncorhynchus mykiss tmpte7i6ely_mondo_relaxed.owl Parasalmo mykiss|Oncorhynchus nerka mykiss|rainbow trout|Salmo mykiss GC_ID:1 NCBITaxon:1311475 ncbi_taxonomy owl:Class NCBITaxon:8016 biolink:NamedThing Oncorhynchus tmpte7i6ely_mondo_relaxed.owl Parasalmo GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007357 biolink:NamedThing colonic varices without portal hypertension tmpte7i6ely_mondo_relaxed.owl colonic varices without portal hypertension OMIM:120440|UMLS:C1852721|MESH:C565172 owl:Class HGNC:11566 biolink:NamedThing TAPBP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7464 biolink:NamedThing MTNR1B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12783 biolink:NamedThing WNT4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004693 biolink:NamedThing squamous carcinoma in situ A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma in situ|grade 3 squamous intraepithelial neoplasia|grade 3 SIN|severe dysplasia of the cervix uteri|uterine cervix in situ carcinoma|epidermoid cell carcinoma in situ|severe dysplasia of cervix|squamous cell carcinoma in situ|carcinoma in situ of cervix|CIN III - carcinoma in situ of cervix|carcinoma in situ of uterine cervix|carcinoma, squamous cell, in situ, malignant|CIN III|squamous cell carcinoma in-situ|grade III SIN|stage 0 squamous cell carcinoma|grade III squamous intraepithelial neoplasia|squamous carcinoma in situ|stage 0 uterine cervix carcinoma|CIN III - severe dyskaryosis|squamous intraepithelial neoplasia, grade III|intraepithelial squamous cell carcinoma|cervix Ca in situ|cervical intraepithelial neoplasia grade III with severe dysplasia NCIT:C27093|UMLS:C0334245|ICDO:8070/2|ICDO:8077/2 owl:Class MONDO:0025489 biolink:NamedThing enzootic bovine leukosis A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. tmpte7i6ely_mondo_relaxed.owl enzootic bovine Leukoses|leukoses, enzootic bovine|bovine leukemias|bovine Leukoses|lymphosarcoma, bovine|lymphomas, bovine|bovine Leukoses, enzootic|leukosis, bovine|bovine leukosis, enzootic|bovine Lymphosarcomas|leukosis, enzootic bovine|bovine leukosis|leukemias, bovine|leukemia, bovine|bovine leukemia|bovine lymphosarcoma|bovine lymphoma|lymphoma, bovine|lymphosarcomas, bovine|leukoses, bovine|bovine Lymphomas MESH:D016583|EFO:1001315 owl:Class MONDO:0017863 biolink:NamedThing digitalis poisoning Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. tmpte7i6ely_mondo_relaxed.owl UMLS:CN203897|SCTID:12876009|Orphanet:31828|ICD10:T46.0 owl:Class GO:0016447 biolink:NamedThing somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. tmpte7i6ely_mondo_relaxed.owl somatic recombination of antibody gene segments owl:Class MONDO:0060589 biolink:NamedThing facial palsy, congenital, with ptosis and velopharyngeal dysfunction tmpte7i6ely_mondo_relaxed.owl FPVEPD|facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM:617732|UMLS:C4540277 owl:Class HGNC:2555 biolink:NamedThing CUL4B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010045 biolink:NamedThing 1st arch maxillary mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020723 biolink:NamedThing vitamin D-dependent rickets, type 1A tmpte7i6ely_mondo_relaxed.owl 1-Alpha-Hydroxylase deficiency|1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|pseudovitamin D-deficiency rickets, type 1A|PDDR 1A|vitamin D hydroxylation-deficient rickets, type 1A|25-hydroxycholecalciferol-1-Hydroxylase deficiency|vitamin D dependency, type 1|VDDR1A|vitamin D-dependent rickets, type 1A UMLS:C0268689|Orphanet:289157|OMIM:264700 owl:Class MONDO:0015767 biolink:NamedThing trisomy 4p Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. tmpte7i6ely_mondo_relaxed.owl partial trisomy 4p|4p duplication|4p trisomy|Duplication 4p|chromosome 4p duplication|trisomy type 4p|trisomy of the short arm of chromosome 4|Duplication of the short arm of chromosome 4 Orphanet:1738|MESH:C537643|ICD10:Q92.2|GARD:0006091 owl:Class MONDO:0010918 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl EIG|EIG1|epilepsy, idiopathic generalized, susceptibility to, 1 SCTID:36803009|OMIM:600669|ICD9:345.10 The OMIM entries here are named generically, the same as the PS but it refers to a susceptibility conferred by a specific gene. https://github.com/monarch-initiative/mondo/issues/4147|https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0012573 biolink:NamedThing vesicoureteral reflux 2 Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene. tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux type 2|VUR2|ROBO2 vesicoureteral reflux (disease)|vesicoureteral reflux 2|vesicoureteral reflux (disease) caused by mutation in ROBO2 Orphanet:289365|MESH:C567053|OMIM:610878|UMLS:C1970483 owl:Class BFO:0000015 biolink:NamedThing process An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t.|p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])|An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t.|p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003]) tmpte7i6ely_mondo_relaxed.owl Process process BFO 2 Reference: The realm of occurrents is less pervasively marked by the presence of natural units than is the case in the realm of independent continuants. Thus there is here no counterpart of ‘object’. In BFO 1.0 ‘process’ served as such a counterpart. In BFO 2.0 ‘process’ is, rather, the occurrent counterpart of ‘material entity’. Those natural – as contrasted with engineered, which here means: deliberately executed – units which do exist in the realm of occurrents are typically either parasitic on the existence of natural units on the continuant side, or they are fiat in nature. Thus we can count lives; we can count football games; we can count chemical reactions performed in experiments or in chemical manufacturing. We cannot count the processes taking place, for instance, in an episode of insect mating behavior.Even where natural units are identifiable, for example cycles in a cyclical process such as the beating of a heart or an organism’s sleep/wake cycle, the processes in question form a sequence with no discontinuities (temporal gaps) of the sort that we find for instance where billiard balls or zebrafish or planets are separated by clear spatial gaps. Lives of organisms are process units, but they too unfold in a continuous series from other, prior processes such as fertilization, and they unfold in turn in continuous series of post-life processes such as post-mortem decay. Clear examples of boundaries of processes are almost always of the fiat sort (midnight, a time of death as declared in an operating theater or on a death certificate, the initiation of a state of war) a process of meiosis|your process of aging.|the life of an organism|the course of a disease|a process of sleeping|a process of cell-division, \ a beating of the heart|the flight of a bird (iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003] owl:Class MONDO:0010479 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, X-linked dominant, type 6|Charcot-Marie-Tooth disease X-linked dominant type 6|Charcot-Marie-Tooth disease, X-linked dominant, 6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|Charcot-Marie-Tooth neuropathy X-linked dominant 6|CMT6X|X-linked Charcot-Marie-Tooth disease type 6|CMTX6 OMIM:300905|Orphanet:352675|SCTID:763347000|ICD10:G60.0|DOID:0110207|GARD:0012445|UMLS:C3806702 Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 owl:Class MONDO:0003448 biolink:NamedThing benign spiradenoma A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. tmpte7i6ely_mondo_relaxed.owl eccrine spiradenoma|spiroma/spiradenoma|benign eccrine spiradenoma|spiradenoma|eccrine spiradenoma of skin|eccrine spiradenoma (morphologic abnormality) DOID:5444|UMLS:C0334347|SCTID:403938001|NCIT:C4170|GARD:0008649|ICDO:8403/0|ONCOTREE:SPIR Spiradenomas are usually benign. Malignant forms are rare. owl:Class HGNC:21504 biolink:NamedThing PRY2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018152 biolink:NamedThing serpiginous choroiditis Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications. tmpte7i6ely_mondo_relaxed.owl geographic serpiginous choroiditis|geographic helicoid peripapillary choroidopathy|geographic helicoid peripapillary choroidopathy (GHPC)|geographic choroiditis|peripapillary choriopathy|serpiginous choroidopathy SCTID:312491004|ICD9:363.8|Orphanet:35686|GARD:0000031|UMLS:C0729842|ICD10:H30.8 https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis owl:Class MONDO:0022504 biolink:NamedThing arthrogryposis spinal muscular atrophy tmpte7i6ely_mondo_relaxed.owl GARD:0000795 https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy owl:Class UBERON:0007241 biolink:NamedThing tunica adventitia of vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015410 biolink:NamedThing nasal dorsum fistula/cyst tmpte7i6ely_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141219 owl:Class MONDO:0006817 biolink:NamedThing juxtacortical osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. tmpte7i6ely_mondo_relaxed.owl parosteal osteogenic sarcoma|parosteal osteosarcoma|PAOS|juxtacortical osteosarcoma|juxtacortical osteogenic sarcoma EFO:1001000|ONCOTREE:PAOS|ICDO:9192/3|UMLS:C0206642|MESH:D018217|NCIT:C8969|DOID:3373 owl:Class MONDO:0002628 biolink:NamedThing peripheral osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. tmpte7i6ely_mondo_relaxed.owl peripheral osteosarcoma|surface osteosarcoma|bone surface (peripheral) osteosarcoma UMLS:C1332591|NCIT:C7134|DOID:3374 owl:Class MONDO:0009897 biolink:NamedThing adult polyglucosan body disease Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. tmpte7i6ely_mondo_relaxed.owl APBN|polyglucosan body disease, adult|polyglucosan body disease, adult form|APBD|polyglucosan body neuropathy, adult form GARD:0000108|SCTID:721099001|MESH:C564878|Orphanet:206583|ICD10:E74.0|OMIM:263570 https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult owl:Class CL:2000055 biolink:NamedThing liver dendritic cell Any dendritic cell that is part of a liver. tmpte7i6ely_mondo_relaxed.owl hepatic dendritic cell http://www.jleukbio.org/content/66/2/322.abstract TermGenie 2014-10-06T19:16:11Z cell owl:Class MONDO:0016087 biolink:NamedThing progressive non-infectious anterior vertebral fusion Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. tmpte7i6ely_mondo_relaxed.owl Copenhagen syndrome UMLS:CN200850|Orphanet:2062|ICD10:Q87.8|UMLS:C4304839|SCTID:719268008 owl:Class MONDO:0014495 biolink:NamedThing retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl retinal dystrophy-juvenile cataract-short stature syndrome|RDJCSS|retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM:616108|ICD10:Q87.8|Orphanet:436245|UMLS:C4015242 owl:Class UBERON:0006589 biolink:NamedThing round ligament of uterus tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000815 biolink:NamedThing Hypergonadotropic hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. tmpte7i6ely_mondo_relaxed.owl Primary hypogonadism|Hypergonadotrophic hypogonadism UMLS:C0948896|MSH:D007006|SNOMEDCT_US:370999003 HP:0008679 human_phenotype owl:Class NCBITaxon:446 biolink:NamedThing Legionella pneumophila tmpte7i6ely_mondo_relaxed.owl PMID:434652|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:445 biolink:NamedThing Legionella tmpte7i6ely_mondo_relaxed.owl PMID:8573522|PMID:9734026|PMID:434652|GC_ID:11|PMID:16166707 NCBITaxon:29550 ncbi_taxonomy owl:Class MONDO:0032893 biolink:NamedThing pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures tmpte7i6ely_mondo_relaxed.owl PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES|PAMDDFS OMIM:618737 owl:Class MONDO:0008599 biolink:NamedThing trigeminal neuralgia Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. tmpte7i6ely_mondo_relaxed.owl trigeminal nerve neuralgia|Tic douloureux|trifocal neuralgia|neuralgia of trigeminal nerve|trigeminal neuralgia|trifacial neuralgia EFO:1001219|MESH:D014277|SCTID:31681005|ICD10:G50.0|Orphanet:221091|UMLS:C0040997|ICD9:350.1|MedDRA:10044652|GARD:0007805|DOID:12098|OMIM:190400 https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia owl:Class CHEBI:23341 biolink:NamedThing cobamides tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032733 biolink:NamedThing global developmental delay, progressive ataxia, and elevated glutamine tmpte7i6ely_mondo_relaxed.owl GDPAG|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia|GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE OMIM:618412 owl:Class HGNC:18782 biolink:NamedThing CCDC6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008735 biolink:NamedThing adrenocortical unresponsiveness to ACTH with postreceptor defect tmpte7i6ely_mondo_relaxed.owl familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect MESH:C565971|Orphanet:361|OMIM:202355|UMLS:C1859971 owl:Class HP:0030850 biolink:NamedThing Abnormal pulse pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. tmpte7i6ely_mondo_relaxed.owl UMLS:C0855322 human_phenotype owl:Class GO:0050891 biolink:NamedThing multicellular organismal water homeostasis Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism. tmpte7i6ely_mondo_relaxed.owl body fluid osmoregulation owl:Class GO:0030104 biolink:NamedThing water homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. tmpte7i6ely_mondo_relaxed.owl regulation of osmotic pressure|osmoregulation owl:Class MONDO:0021113 biolink:NamedThing respiratory failure The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. tmpte7i6ely_mondo_relaxed.owl respiratory insufficiency/failure|acute respiratory failure|failure, respiratory|acute and chronic respiratory failure|acute-on-chronic respiratory failure|chronic respiratory failure|respiratory failure ICD9:518.81|UMLS:C0264490|SCTID:39871006|DOID:11162|SCTID:65710008|ICD9:518.83|ICD10:J96.0|MESH:D012131|NCIT:C26872|UMLS:C1145670|NCIT:C27043 owl:Class MONDO:0009475 biolink:NamedThing isovaleric acidemia Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. tmpte7i6ely_mondo_relaxed.owl isovaleric aciduria|isovaleric acid CoA dehydrogenase deficiency|isovaleric acidemia|IVD deficiency|isovaleryl CoA carboxylase deficiency|IVA|isovaleric acid Coa dehydrogenase deficiency|isovaleryl-CoA dehydrogenase deficiency|Isovalericacidemia ICD10:E71.110|MESH:C538167|GARD:0000465|ICD10:E71.1|DOID:14753|UMLS:C0268575|OMIM:243500|NCIT:C98964|Orphanet:33|SCTID:87827003 https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia owl:Class MONDO:0009699 biolink:NamedThing action myoclonus-renal failure syndrome Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. tmpte7i6ely_mondo_relaxed.owl AMRF|myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|action myoclonus-renal failure syndrome|epilepsy, progressive myoclonic, 4, with or without renal failure|EPM4 SCTID:764453009|Orphanet:163696|OMIM:254900 owl:Class MONDO:0024227 biolink:NamedThing miliaria pustulosa A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. tmpte7i6ely_mondo_relaxed.owl DOID:0070319|SCTID:26988005 owl:Class UBERON:0008310 biolink:NamedThing nasopharyngeal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032605 biolink:NamedThing intellectual disability, autosomal recessive 66 tmpte7i6ely_mondo_relaxed.owl MRT66|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 OMIM:618221 owl:Class MONDO:0007498 biolink:NamedThing ear exostoses tmpte7i6ely_mondo_relaxed.owl exostoses of external auditory canal|ear exostoses OMIM:128300|UMLS:C0155411 owl:Class HGNC:2019 biolink:NamedThing CLCN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003531 biolink:NamedThing papillary eccrine carcinoma tmpte7i6ely_mondo_relaxed.owl papillary eccrine carcinoma|tubular apocrine adenoma|papillary eccrine adenoma|papillary apocrine fibroadenoma|eccrine papillary adenocarcinoma|digital papillary adenocarcinoma NCIT:C27254|SCTID:254709009|DOID:5591|UMLS:C1367774 owl:Class MONDO:0018355 biolink:NamedThing SIM1-related Prader-Willi-like syndrome tmpte7i6ely_mondo_relaxed.owl PWS-like due to a point mutation|Prader-Willi-like syndrome due to a point mutation|SIM1-related PWLS|PWS-like due to point mutation Orphanet:398079|ICD10:Q87.1|UMLS:CN226095 owl:Class MONDO:0018354 biolink:NamedThing Prader-Willi-like syndrome Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. tmpte7i6ely_mondo_relaxed.owl PWS-like Orphanet:398073|ICD10:Q87.1|UMLS:CN226094 owl:Class NCBITaxon:5722 biolink:NamedThing Trichomonas vaginalis tmpte7i6ely_mondo_relaxed.owl Tritrichomonas vaginalis GC_ID:1 NCBITaxon:28848 ncbi_taxonomy owl:Class HGNC:12791 biolink:NamedThing WRN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013275 biolink:NamedThing hemolytic anemia due to glucophosphate isomerase deficiency Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl glucosephosphate isomerase deficiency|hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency UMLS:CN072763|OMIM:613470|Orphanet:712|UMLS:C3150730|GARD:0002502|ICD10:D55.2 owl:Class MONDO:0004338 biolink:NamedThing retinal cell cancer tmpte7i6ely_mondo_relaxed.owl malignant retinal cell neoplasm|malignant neoplasm of retinal cell|cancer of retinal cell|retinal cell cancer DOID:771 owl:Class MONDO:0012400 biolink:NamedThing cortical dysplasia-focal epilepsy syndrome An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder. tmpte7i6ely_mondo_relaxed.owl CDFE syndrome|PTHSL1|CDFES|Pitt-Hopkins-like syndrome 1|cortical dysplasia-focal epilepsy syndrome Orphanet:221150|NCIT:C133743|DOID:0090130|OMIM:610042|Orphanet:163681|UMLS:C1864887|ICD10:Q04.8 owl:Class MONDO:0016377 biolink:NamedThing Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. tmpte7i6ely_mondo_relaxed.owl PTHSL OMIM:614325|Orphanet:221150|GARD:0011967|OMIM:610042|UMLS:CN239445 https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome owl:Class MONDO:0015261 biolink:NamedThing pseudopelade of Brocq Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. tmpte7i6ely_mondo_relaxed.owl pseudo-pelade of Brocq|pseudo pelade of Brocq|Brocq pseudopelade GARD:0004536|ICD10:L66.0|Orphanet:129|ICD9:704.09|SCTID:238731001 https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq owl:Class OBO:CHR_9606-chr20q11.2 biolink:NamedThing 20q11.2 (Human) tmpte7i6ely_mondo_relaxed.owl 39000000 30400000 hg38 owl:Class MONDO:0000782 biolink:NamedThing Indian plum allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. tmpte7i6ely_mondo_relaxed.owl Ziziphus mauritiana fruit allergy DOID:0060507 owl:Class MONDO:0003704 biolink:NamedThing uterine corpus diffuse leiomyomatosis An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus. tmpte7i6ely_mondo_relaxed.owl uterine corpus diffuse leiomyomatosis|leiomyomatosis of body of uterus|uterine corpus leiomyomatosis|body of uterus leiomyomatosis NCIT:C40170|UMLS:C1519855|DOID:5916|DOID:5917 owl:Class MONDO:0008886 biolink:NamedThing Sabinas brittle hair syndrome tmpte7i6ely_mondo_relaxed.owl brittle hair and mental Deficit|Sabinas brittle hair syndrome|brittle hair syndrome, Sabinas type|Sabinas syndrome UMLS:C0796271|MESH:C536320|Orphanet:3123|OMIM:211390|GARD:0000313 https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome owl:Class MONDO:0011954 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl CMM4|melanoma, cutaneous malignant, susceptibility to, 4 OMIM:608035|Orphanet:618 owl:Class MONDO:0004321 biolink:NamedThing endometrial mixed adenocarcinoma An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor. tmpte7i6ely_mondo_relaxed.owl endometrial mixed adenocarcinoma UMLS:C1516856|NCIT:C40153|DOID:7664 owl:Class UBERON:0011142 biolink:NamedThing axial ossicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012488 biolink:NamedThing hepatitis B virus, susceptibility to tmpte7i6ely_mondo_relaxed.owl Hepatitis B Virus, resistance to|HBV, resistance to|HBV, susceptibility to|hepatitis b virus, susceptibility to OMIM:610424|UMLS:C3552304 owl:Class ECTO:6000016 biolink:NamedThing exposure to personal behavior An exposure event involving Personal Behavior tmpte7i6ely_mondo_relaxed.owl Personal Behavior exposure owl:Class HP:0003133 biolink:NamedThing Abnormality of the spinocerebellar tracts An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025647 human_phenotype owl:Class MONDO:0025382 biolink:NamedThing sarcoma, avian Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses. tmpte7i6ely_mondo_relaxed.owl Avian sarcoma|sarcoma, Rous|Rous sarcoma|sarcomas, Avian|Avian sarcomas MESH:D001357 owl:Class MONDO:0005435 biolink:NamedThing anti-neutrophil antibody associated vasculitis Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. tmpte7i6ely_mondo_relaxed.owl EFO:0004826 owl:Class MONDO:0001770 biolink:NamedThing gastrin secretion abnormality tmpte7i6ely_mondo_relaxed.owl UMLS:C0000774|SCTID:47344007|DOID:13656|ICD9:251.5 owl:Class MONDO:0000147 biolink:NamedThing polyposis tmpte7i6ely_mondo_relaxed.owl multiple polyps|polyposis NCIT:C4089|UMLS:C0334108 owl:Class MONDO:0014977 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Z An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. tmpte7i6ely_mondo_relaxed.owl POGLUT1 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2Z|muscular dystrophy, limb-girdle, type 2Z|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1|LGMD2Z UMLS:CN776834|OMIM:617232|Orphanet:480682|UMLS:C4310660|NCIT:C142082 MONDO:0018817 owl:Class MONDO:0018540 biolink:NamedThing PFAPA syndrome An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. tmpte7i6ely_mondo_relaxed.owl periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome|Marshall syndrome with periodic fever|periodic fever, aphthous stomatitis, pharyngitis and adenitis|PFAPA|Marshall syndrome|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome UMLS:C4082167|Orphanet:42642|ICD10:E85.0|SCTID:717231003|UMLS:CN205072|GARD:0005657|NCIT:C116917 owl:Class MONDO:0023226 biolink:NamedThing gershinibaruch Leibo syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002464 https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome owl:Class NCBITaxon:201174 biolink:NamedThing Actinobacteria tmpte7i6ely_mondo_relaxed.owl Actinobacteraeota|Actinobacteriota|actinobacteria PMID:16280504|PMID:11837318|GC_ID:11|PMID:26654112|PMID:29458499 ncbi_taxonomy owl:Class MONDO:0001688 biolink:NamedThing toxic optic neuropathy tmpte7i6ely_mondo_relaxed.owl ICD10:H46.3|DOID:13329|UMLS:C0155303|ICD9:377.34|SCTID:26125006 Editor note: todo - grouping class owl:Class UBERON:0013239 biolink:NamedThing future glans penis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011206 biolink:NamedThing ventriculomegaly with defects of the radius and kidney tmpte7i6ely_mondo_relaxed.owl ventriculomegaly with defects of the radius and kidney UMLS:C1865780|OMIM:602200|MESH:C566565 owl:Class MONDO:0011092 biolink:NamedThing ribbing disease Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described. tmpte7i6ely_mondo_relaxed.owl ribbing disease|hereditary multiple diaphyseal sclerosis|multiple diaphyseal sclerosis|diaphyseal sclerosis, multiple UMLS:C1832273|OMIM:601477|MESH:C537613|GARD:0008494 https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease owl:Class NCBITaxon:42407 biolink:NamedThing Neotoma tmpte7i6ely_mondo_relaxed.owl trade rats|pack rats|wood rats GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:337963 biolink:NamedThing Neotominae tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:15371245 ncbi_taxonomy owl:Class NCBITaxon:816 biolink:NamedThing Bacteroides tmpte7i6ely_mondo_relaxed.owl Ristella|Capsularis GC_ID:11 ncbi_taxonomy owl:Class MONDO:0008621 biolink:NamedThing uncombable hair syndrome Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. tmpte7i6ely_mondo_relaxed.owl spun glass hair|cheveux incoiffables|unmanageable hair syndrome|uncombable hair syndrome|pili trianguli et canaliculi MESH:C536939|OMIM:191480|UMLS:C0432347|OMIM:617251|GARD:0005404|Orphanet:1410|SCTID:254230001|OMIM:617252|ICD10:Q84.1 https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome owl:Class MONDO:0019392 biolink:NamedThing syringocystadenoma papilliferum A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. tmpte7i6ely_mondo_relaxed.owl syringocystadenoma papilliferum|papillary syringocystadenoma|papillary Syringadenoma (syringocystadenoma papilliferum)|naevus syringocystadenomatosus papilliferus|papillary syringadenoma (morphologic abnormality)|papillary Syringadenoma|SCAP|Syringadenoma papilliferum|Syringadenoma|fistulous vegetative verrucous hydradenoma ICDO:8406/0|UMLS:C0406803|MedDRA:10042926|Orphanet:840|SCTID:239121009|ICD10:D23.9|DOID:5445|EFO:1000558|NCIT:C4172|GARD:0005100 owl:Class NBO:0000455 biolink:NamedThing attention behavior "The sustained focus of cognitive resources on information while filtering or ignoring extraneous information. Intended to encompass only attention to perceptual stimuli. " [wikipedia:Attention] tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30972 biolink:NamedThing SECISBP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008521 biolink:NamedThing tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. tmpte7i6ely_mondo_relaxed.owl TCC|tarsal-carpal coalition syndrome|tarsal carpal coalition syndrome|synostosis of talus and calcaneus with short stature SCTID:702312009|GARD:0009225|UMLS:C1861305|DOID:0050789|OMIM:186400|Orphanet:1412|ICD9:756.9|EFO:0008965|ICD10:Q74.8|OMIM:186570 https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome owl:Class MONDO:0018581 biolink:NamedThing progressive encephalomyelitis with rigidity and myoclonus tmpte7i6ely_mondo_relaxed.owl perm OMIM:184850|ICD10:G04.8|Orphanet:438266|GARD:0013110|UMLS:C1861457 https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus owl:Class PATO:0001874 biolink:NamedThing discoid A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. tmpte7i6ely_mondo_relaxed.owl disc-shaped|disk-shaped owl:Class MONDO:0021498 biolink:NamedThing benign neoplasm of placenta A benign neoplasm that involves the placenta. tmpte7i6ely_mondo_relaxed.owl placenta benign neoplasm|benign placental neoplasm|benign tumor of the placenta|benign placenta neoplasm|benign placenta tumor|benign placental tumor|benign tumor of placenta|benign neoplasm of the placenta|placental neoplasms, benign NCIT:C8545|ICD9:219.8|UMLS:C0686274|SCTID:92297008 owl:Class GO:0008757 biolink:NamedThing S-adenosylmethionine-dependent methyltransferase activity Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate. tmpte7i6ely_mondo_relaxed.owl S-adenosyl methionine-dependent methyltransferase activity|SAM-dependent methyltransferase activity owl:Class GO:0008168 biolink:NamedThing methyltransferase activity Catalysis of the transfer of a methyl group to an acceptor molecule. tmpte7i6ely_mondo_relaxed.owl methylase owl:Class MONDO:0012600 biolink:NamedThing autism, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 9|AUTS9 OMIM:611015 owl:Class MONDO:0006283 biolink:NamedThing lymphoepithelioma-like lung carcinoma A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration. tmpte7i6ely_mondo_relaxed.owl lymphoepithelioma-like carcinoma of the lung ONCOTREE:LECLC|UMLS:C1708792|NCIT:C45519|EFO:1000340 owl:Class UBERON:0015144 biolink:NamedThing autopod hair tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000746 biolink:NamedThing glomerular cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001036 cell owl:Class MONDO:0015418 biolink:NamedThing lateral facial cleft tmpte7i6ely_mondo_relaxed.owl Tessier number 7 facial cleft|transverse facial cleft ICD10:Q18.8|Orphanet:141269 owl:Class MONDO:0032646 biolink:NamedThing congenital anomalies of kidney and urinary tract 3 tmpte7i6ely_mondo_relaxed.owl CAKUT3|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 OMIM:618270 owl:Class MONDO:0013190 biolink:NamedThing factor XIII, b subunit, deficiency of tmpte7i6ely_mondo_relaxed.owl factor XIII, b subunit, deficiency of MESH:C567688|OMIM:613235|Orphanet:331 owl:Class MONDO:0019640 biolink:NamedThing posterior urethral valve Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. tmpte7i6ely_mondo_relaxed.owl congenital posterior urethral valves|Posterior urethral valves|PUV UMLS:CN227669|MedDRA:10036369|Orphanet:93110|UMLS:C0238506|GARD:0007439|ICD10:Q64.2|SCTID:253900005|NCIT:C99021|ICD9:753.8 owl:Class MONDO:0042489 biolink:NamedThing disease susceptibility A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. tmpte7i6ely_mondo_relaxed.owl susceptibility, disease|susceptibilities, disease|diathesis|disease susceptibilities|diatheses MESH:D004198 owl:Class HGNC:2718 biolink:NamedThing DDB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006564 biolink:NamedThing irritant dermatitis An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site. tmpte7i6ely_mondo_relaxed.owl primary irritant dermatitis|irritant contact dermatitis ICD10:L24|ICD9:692.9|ICD10:L24.9|UMLS:C0162823|SCTID:110979008|MESH:D017453|DOID:2772|EFO:1000718|NCIT:C27151 owl:Class GO:0009199 biolink:NamedThing ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleoside triphosphate metabolism owl:Class CL:0009030 biolink:NamedThing enteroendocrine cell of appendix An intestinal enteroendocrine cell that is located in a vermiform appendix. tmpte7i6ely_mondo_relaxed.owl enteroendocrine cell of vermiform appendix|enteroendocrine cell of appendix vermiformis|appendix enteroendocrine cell owl:Class MONDO:0044316 biolink:NamedThing thrombocytopenia, anemia, and myelofibrosis tmpte7i6ely_mondo_relaxed.owl THAMY|thrombocytopenia, anemia, and myelofibrosis OMIM:617441|UMLS:C4479504 owl:Class MONDO:0004166 biolink:NamedThing hereditary fallopian tube carcinoma Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. tmpte7i6ely_mondo_relaxed.owl hereditary fallopian tube cancer|familiar fallopian tube carcinoma|hereditary fallopian tube carcinoma|familial fallopian tube carcinoma UMLS:C1512418|DOID:7266|NCIT:C40455 owl:Class GO:0002232 biolink:NamedThing leukocyte chemotaxis involved in inflammatory response The movement of an immune cell in response to an external stimulus contributing to an inflammatory response. tmpte7i6ely_mondo_relaxed.owl immune cell chemotaxis during inflammatory response|leucocyte chemotaxis during inflammatory response|leukocyte chemotaxis during inflammatory response owl:Class MONDO:0012481 biolink:NamedThing mevalonic aciduria Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. tmpte7i6ely_mondo_relaxed.owl MEVA|complete mevalonate kinase deficiency|hyperimmunoglobulin D with periodic fever syndrome|MVA|MKD|HIDS|Mevalonicaciduria|mevalonic aciduria OMIM:610377|GARD:0003588|MedDRA:10072219|DOID:0050452|ICD10:E88.8|SCTID:718558008|Orphanet:29|UMLS:C0398691|UMLS:C1959626|NCIT:C84890 https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria owl:Class MONDO:0010426 biolink:NamedThing X-linked endothelial corneal dystrophy X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, endothelial, X-linked|endothelial corneal dystrophy, X-linked|XECD DOID:0060446|OMIM:300779|UMLS:C2749049|ICD10:H18.5|MESH:C567587|SCTID:718579008|Orphanet:293621 owl:Class HGNC:11847 biolink:NamedThing TLR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0005387 biolink:NamedThing Combined immunodeficiency A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. tmpte7i6ely_mondo_relaxed.owl UMLS:C0494261 human_phenotype owl:Class HP:0002653 biolink:NamedThing Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. tmpte7i6ely_mondo_relaxed.owl Bone pain UMLS:C0151825|SNOMEDCT_US:12584003 human_phenotype owl:Class MONDO:0013409 biolink:NamedThing age related macular degeneration 5 Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene. tmpte7i6ely_mondo_relaxed.owl ERCC6 age-related macular degeneration|macular Degeneration, age-related, type 5|age related macular degeneration type 5|macular degeneration, age-related, 5|ARMD5|age-related macular degeneration caused by mutation in ERCC6 UMLS:C3151063|DOID:0110028|OMIM:613761 owl:Class MONDO:0006383 biolink:NamedThing primary cutaneous diffuse large B-cell lymphoma, Leg type An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required. tmpte7i6ely_mondo_relaxed.owl primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT UMLS:C1709656|ICDO:9680/3|NCIT:C45194|ICD10:C83.3|EFO:1000490|Orphanet:178544 owl:Class UBERON:0018246 biolink:NamedThing thyroid vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3683 biolink:NamedThing FGF5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018913 biolink:NamedThing malakoplakia Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. tmpte7i6ely_mondo_relaxed.owl malacoplakia MESH:D008287|SCTID:716766007|NCIT:C84833|EFO:1001807|GARD:0006960|Orphanet:556 https://rarediseases.info.nih.gov/diseases/6960/malakoplakia owl:Class GO:0042135 biolink:NamedThing neurotransmitter catabolic process The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. tmpte7i6ely_mondo_relaxed.owl neurotransmitter breakdown|neurotransmitter degradation|neurotransmitter catabolism owl:Class MONDO:0020147 biolink:NamedThing anophthalmia-microphthalmia syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q11.1|UMLS:CN120488|ICD10:Q11.2|Orphanet:98555|ICD10:Q11.0 owl:Class MONDO:0001866 biolink:NamedThing bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. tmpte7i6ely_mondo_relaxed.owl bipolar 1 disorder|bipolar I disorder DOID:14042|SCTID:371596008|ICD9:296.7|ICD9:296.50 owl:Class MONDO:0013247 biolink:NamedThing Fanconi renotubular syndrome 2 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. tmpte7i6ely_mondo_relaxed.owl Fanconi syndrome caused by mutation in SLC34A1|SLC34A1 Fanconi syndrome|FRTS2|Fanconi renotubular syndrome type 2|Fanconi renotubular syndrome 2 UMLS:C3150652|Orphanet:3337|OMIM:613388 owl:Class MONDO:0007600 biolink:NamedThing primary Fanconi syndrome A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. tmpte7i6ely_mondo_relaxed.owl primary Fanconi renotubular syndrome|FRTS1|Fanconi renotubular syndrome 1 GARD:0009118|OMIM:134600|Orphanet:3337|ICD10:E72.0|OMIM:613388|OMIM:615605|NCIT:C123229 https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome owl:Class UBERON:0006864 biolink:NamedThing distal metaphysis of femur tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004377 biolink:NamedThing distal metaphysis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2194 biolink:NamedThing COL17A1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000703 biolink:NamedThing hydrological precipitation process Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity. tmpte7i6ely_mondo_relaxed.owl precipitation owl:Class MONDO:0010218 biolink:NamedThing 46,XX sex reversal 2 tmpte7i6ely_mondo_relaxed.owl 46,XX SEX reversal 2|46,XX Sex reversal type 2|SRXX2|chromosome 17Q24 Duplication syndrome|46,XX sex reversal 2 UMLS:C2749215|OMIM:278850|DOID:0111763|Orphanet:393 owl:Class NCBITaxon:140713 biolink:NamedThing Tunga tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010957 biolink:NamedThing agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations tmpte7i6ely_mondo_relaxed.owl agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations|KENNERKNECHT syndrome|agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|Kennerknecht syndrome OMIM:600908|UMLS:C1833162 owl:Class MONDO:0008743 biolink:NamedThing Stimmler syndrome Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. tmpte7i6ely_mondo_relaxed.owl Stimmler syndrome|ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus SCTID:733072002|GARD:0005026|Orphanet:3199|UMLS:C1859965|OMIM:202900|MESH:C565968 owl:Class MONDO:0007747 biolink:NamedThing isolated hyperchlorhidrosis tmpte7i6ely_mondo_relaxed.owl isolated hyperchlorhidrosis|hyperchlorhidrosis, isolated SCTID:709413001|Orphanet:542657|OMIM:143860|ICD9:276.9|DOID:0111371 owl:Class MONDO:0032797 biolink:NamedThing myopathy, congenital, with tremor tmpte7i6ely_mondo_relaxed.owl MYOTREM|MYOPATHY, CONGENITAL, WITH TREMOR|Myogenic Tremor OMIM:618524 owl:Class UBERON:0003957 biolink:NamedThing Bruch's membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015733 biolink:NamedThing low anorectal malformation Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation. tmpte7i6ely_mondo_relaxed.owl Orphanet:171215|NCIT:C98975|ICD10:Q42.2|ICD9:751.5|SCTID:253772005|UMLS:C0345218|ICD10:Q42.3 owl:Class HGNC:1809 biolink:NamedThing CDY1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030414 biolink:NamedThing peptidase inhibitor activity Binds to and stops, prevents or reduces the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpte7i6ely_mondo_relaxed.owl protease inhibitor activity owl:Class MONDO:0018647 biolink:NamedThing secondary sclerosing cholangitis tmpte7i6ely_mondo_relaxed.owl SCTID:197442005|UMLS:C0400978|Orphanet:447774|ICD10:K83.0 owl:Class MONDO:0030012 biolink:NamedThing Diets-Jongmans syndrome tmpte7i6ely_mondo_relaxed.owl DIETS-JONGMANS SYNDROME|DIJOS|diets-jongmans syndrome|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism OMIM:618846 owl:Class MONDO:0023068 biolink:NamedThing engelhard yatziv syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002124 https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome owl:Class MONDO:0008908 biolink:NamedThing MGAT2-CDG MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). tmpte7i6ely_mondo_relaxed.owl carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|congenital disorder of glycosylation, type IIa|mental retardation, Growth retardation, prominent columella, and open mouth|CDGS2|MGAT2-CDG (CDG-IIa)|congenital disorder of glycosylation type 2a|Alkuraya syndrome|carbohydrate deficient glycoprotein syndrome type IIa|intellectual disability, Growth retardation, prominent columella, and open mouth|CDG2A|CDG syndrome type IIa|N-acetylglucosaminyltransferase 2 deficiency|carbohydrate-deficient glycoprotein syndrome type 2|CDG-IIa|carbohydrate-deficient glycoprotein syndrome, type II, formerly|carbohydrate-deficient glycoprotein syndrome, type II|CDG 2A|congenital disorder of glycosylation type IIa|CDG IIa ICD10:E77.8|OMIM:212066|GARD:0009828|Orphanet:79329|SCTID:724142005|DOID:0070253|UMLS:C2931008|MESH:C535752 owl:Class CHEBI:74818 biolink:NamedThing heteroaryl hydroxy compound Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring. tmpte7i6ely_mondo_relaxed.owl heteroaromatic hydroxy compound|heteroaromatic hydroxy compounds|hetaryl hydroxy compound|hetaryl hydroxy compounds|heteroaryl hydroxy compounds owl:Class MONDO:0044702 biolink:NamedThing X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl deafness, X-linked 7|DFNX7 OMIM:301018|Orphanet:500188|DOID:0111738 owl:Class MONDO:0009276 biolink:NamedThing Bernard-Soulier syndrome Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. tmpte7i6ely_mondo_relaxed.owl Platelet glycoprotein 1b, deficiency of|giant platelet syndrome|Bernard - Soulier thrombopathy|thrombopathy, Bernard-Soulier|Bernard Soulier syndrome|hemorrhagic dystrophic thrombocytopenia|macrothrombocytopenia, familial Bernard-Soulier type|bleeding disorder, Platelet-type, 1|deficiency of platelet glycoprotein 1b|giant platelet disease|Bernard-Soulier syndrome, type A1|Platelet glycoprotein Ib deficiency|Bernard-Soulier syndrome|glycoprotein Ib, Platelet, deficiency of|Von Willebrand Factor receptor deficiency|Bernard-Soulier syndrome, type C|Hemorrhagiparous thrombocytic dystrophy|Bernard-Soulier syndrome, type B|BSS OMIM:231200|Orphanet:274|OMIM:153670|MESH:D001606|MedDRA:10057473|SCTID:234478007|ICD10:D69.1|UMLS:C0005129|GARD:0002470|DOID:2217|NCIT:C84595 owl:Class UBERON:0010146 biolink:NamedThing paraurethral duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019922 biolink:NamedThing paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). tmpte7i6ely_mondo_relaxed.owl UPD(7)pat|paternal uniparental disomy of chromosome type 7 Orphanet:96192|ICD10:Q99.8|SCTID:766721001 owl:Class CHEBI:52255 biolink:NamedThing hydroxylapatite A phosphate mineral with the formula Ca5(PO4)3(OH). tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:52254 biolink:NamedThing apatite A phosphate mineral with the general formula Ca5(PO4)3X where X = OH, F or Cl. tmpte7i6ely_mondo_relaxed.owl hydroxyapatite owl:Class MONDO:0018494 biolink:NamedThing microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. tmpte7i6ely_mondo_relaxed.owl Orphanet:423306|ICD10:Q87.1|UMLS:CN237496 owl:Class MONDO:0022656 biolink:NamedThing cardiomyopathy spherocytosis tmpte7i6ely_mondo_relaxed.owl GARD:0001110 https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis owl:Class MONDO:0043683 biolink:NamedThing Leriche syndrome An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. tmpte7i6ely_mondo_relaxed.owl Leriche syndrome|syndrome, Leriche's|Leriche's syndrome|Leriches syndrome|leriche's syndrome|syndrome, Leriche MESH:D007925|UMLS:C0023370|SCTID:307816004|NCIT:C34773 owl:Class MONDO:0008059 biolink:NamedThing Naegeli-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. tmpte7i6ely_mondo_relaxed.owl NAEGELI syndrome|reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|Naegeli-Franceschetti-Jadassohn syndrome|Nfj syndrome|NAEGELI-Franceschetti-Jadassohn syndrome|NFJS|NFJ syndrome|Naegeli syndrome OMIM:161000|ICD10:Q82.4|GARD:0003912|DOID:0111528|SCTID:239084001|MESH:C538331|Orphanet:69087|UMLS:C0343111 owl:Class NCBITaxon:186801 biolink:NamedThing Clostridia tmpte7i6ely_mondo_relaxed.owl PMID:26410691|PMID:31076745|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013013 biolink:NamedThing question mark ears, isolated tmpte7i6ely_mondo_relaxed.owl question mark ears, isolated|question MARK ears, isolated|ears, prominent and constricted|auricular cleft, congenital|QME|Cosman deformity of the auricle Orphanet:137888|OMIM:612798 owl:Class HGNC:10798 biolink:NamedThing SFTPA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023664 biolink:NamedThing spermatogenic failure 54 tmpte7i6ely_mondo_relaxed.owl SPGF54 OMIM:619379 owl:Class MONDO:0009951 biolink:NamedThing radiculoneuropathy, fatal neonatal tmpte7i6ely_mondo_relaxed.owl Radiculoneuropathy, fatal neonatal MESH:C564857|UMLS:C1849471|OMIM:266250 owl:Class CL:1000427 biolink:NamedThing adrenal cortex chromaffin cell A chromaffin cell that is part of the adrenal cortex. tmpte7i6ely_mondo_relaxed.owl chromaffin cell of adrenal cortex FMA:69795 Not clear this cell type exists. Can't call it a cortical adrenal cell because of different germ layer origin. cell owl:Class MONDO:0023282 biolink:NamedThing granulomatous hypophysitis Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. tmpte7i6ely_mondo_relaxed.owl idiopathic granulomatous hypophysitis GARD:0006547 https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis owl:Class GO:1903296 biolink:NamedThing positive regulation of glutamate secretion, neurotransmission Any process that activates or increases the frequency, rate or extent of glutamate secretion, where glutamate acts as a neurotransmitter. tmpte7i6ely_mondo_relaxed.owl activation of glutamate secretion, neurotransmission|up-regulation of glutamate secretion, neurotransmission|up regulation of glutamate secretion, neurotransmission|upregulation of glutamate secretion, neurotransmission owl:Class MONDO:0100291 biolink:NamedThing early T cell progenitor acute lymphoblastic leukemia T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. tmpte7i6ely_mondo_relaxed.owl ETP-ALL|early T-cell precursor lymphoblastic leukemia|ETP ALL|early T acute lymphoblastic leukemia|early T-cell precursor acute lymphoblastic leukemia UMLS:C4329780|NCIT:C130043 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2763 owl:Class MONDO:0003697 biolink:NamedThing non-invasive verrucous carcinoma of the penis tmpte7i6ely_mondo_relaxed.owl non-invasive verrucous carcinoma of penis|non-invasive verrucous carcinoma of the penis|penis non-invasive verrucous carcinoma|non-invasive penile verrucous carcinoma DOID:5907|NCIT:C27791|UMLS:C1334984 owl:Class MONDO:0006758 biolink:NamedThing female genital tuberculosis Mycobacterium infections of the female reproductive tract (genitalia, female). tmpte7i6ely_mondo_relaxed.owl EFO:1000935|MESH:D014384|MedDRA:10061150|SCTID:74181004 owl:Class MONDO:0018834 biolink:NamedThing adenylosuccinate synthetase-like 1-related distal myopathy tmpte7i6ely_mondo_relaxed.owl ADSSL1-related distal myopathy Orphanet:482601 owl:Class MONDO:0007975 biolink:NamedThing meralgia paraesthetica, familial tmpte7i6ely_mondo_relaxed.owl meralgia paraesthetica, familial UMLS:C1835026|MESH:C563590|OMIM:156220 owl:Class HGNC:27089 biolink:NamedThing CARMIL2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016410 biolink:NamedThing N-acyltransferase activity Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000509 biolink:NamedThing non-syndromic intellectual disability An intellectual disability that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic intellectual disability|isolated intellectual disability OMIM:614202|DOID:0050889 owl:Class MONDO:0004490 biolink:NamedThing gestational uterine corpus choriocarcinoma A gestational choriocarcinoma that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl gestational choriocarcinoma of body of uterus|body of uterus gestational choriocarcinoma DOID:8187 owl:Class MONDO:0000167 biolink:NamedThing Huntington disease and related disorders A grouping for Huntington disease and similar diseases. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004820 biolink:NamedThing peripheral nerve schwannoma A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. tmpte7i6ely_mondo_relaxed.owl peripheral nerve schwannoma NCIT:C41430|UMLS:C1519001|DOID:956 Editor note: consider merging into parent, though NCIT treats as two owl:Class PATO:0001796 biolink:NamedThing decreased coiling A coiling which is relatively low. tmpte7i6ely_mondo_relaxed.owl low coiling owl:Class HP:0002334 biolink:NamedThing Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebellar vermis UMLS:C4025712 The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. human_phenotype owl:Class HGNC:84 biolink:NamedThing ACACA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007569 biolink:NamedThing erythema nodosum, familial tmpte7i6ely_mondo_relaxed.owl familial erythema nodosum|erythema nodosum, familial UMLS:C1851503|OMIM:132990|MESH:C535510|GARD:0009259 https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum owl:Class CHEBI:33888 biolink:NamedThing cobalt molecular entity tmpte7i6ely_mondo_relaxed.owl cobalt compounds|cobalt molecular entities|cobalt molecular entity owl:Class HP:0025278 biolink:NamedThing Cold-induced sweating Sweating provoked by cold temperature rather than by heat. tmpte7i6ely_mondo_relaxed.owl 2016-12-18 15:16:15+00:00 HPO:probinson human_phenotype owl:Class MONDO:0010629 biolink:NamedThing impacted teeth, multiple tmpte7i6ely_mondo_relaxed.owl impacted teeth, multiple OMIM:308280 owl:Class MONDO:0017586 biolink:NamedThing onychocytic matricoma Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision. tmpte7i6ely_mondo_relaxed.owl acanthoma of the nail matrix GARD:0011007|Orphanet:300504|UMLS:CN203392 https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma owl:Class MONDO:0017588 biolink:NamedThing nail tumor A neoplasm involving a nail. tmpte7i6ely_mondo_relaxed.owl nail neoplasm|tumor of nail|nail tumor|nail neoplasm (disease)|neoplasm of nail|rare nail tumor Orphanet:300515 owl:Class MONDO:0010453 biolink:NamedThing intellectual disability, X-linked 92 tmpte7i6ely_mondo_relaxed.owl MRX92|mental retardation, X-linked 92|intellectual disability, X-linked 92 UMLS:C1845144|OMIM:300851|MESH:C564483 owl:Class NCBITaxon:1437197 biolink:NamedThing Petrosaviidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:26350789 ncbi_taxonomy owl:Class NCBITaxon:4447 biolink:NamedThing Liliopsida tmpte7i6ely_mondo_relaxed.owl monocots|Monocotyledoneae|monocotyledons GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class GO:1904081 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation. tmpte7i6ely_mondo_relaxed.owl stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of global transcription from Pol II promoter involved in neuron differentiation|stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from Pol II promoter involved in neuron differentiation|positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation|up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|activation of transcription from RNA polymerase II promoter involved in neuron differentiation owl:Class MONDO:0010844 biolink:NamedThing epiphyseal dysplasia, multiple, 2 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene. tmpte7i6ely_mondo_relaxed.owl EDM2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2|epiphyseal dysplasia, multiple, 2|multiple epiphyseal dysplasia 2|epiphyseal dysplasia multiple 2|epiphyseal dysplasia, multiple, type 2|COL9A2 multiple epiphyseal dysplasia (disease) GARD:0009791|UMLS:C1838429|OMIM:600204|DOID:0070298|MESH:C535502|Orphanet:166002 https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2 owl:Class MONDO:0001301 biolink:NamedThing rumination disorder Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. tmpte7i6ely_mondo_relaxed.owl psychogenic rumination|rumination|rumination syndrome SCTID:192014006|NCIT:C92567|GARD:0007594|ICD9:307.53|MESH:D019959|DOID:11507 https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder owl:Class MONDO:0007224 biolink:NamedThing brachydactyly, type E, with atrial septal defect, type 2 tmpte7i6ely_mondo_relaxed.owl brachydactyly, type E, with atrial septal defect, type II OMIM:113301|UMLS:C1862101|MESH:C566193 owl:Class MONDO:0008707 biolink:NamedThing acro-renal-mandibular syndrome Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl acrorenal-uterine-mandibular syndrome|acrorenal mandibular syndrome|acro-renal-uterine-mandibular syndrome|split-hand and split-foot with mandibular hypoplasia|split hand/split foot-mandibular hypoplasia syndrome|split hand split foot mandibular hypoplasia|acrorenal-mandibular syndrome SCTID:720414005|ICD10:Q87.8|UMLS:C1860166|MESH:C535665|GARD:0000480|Orphanet:958|OMIM:200980 owl:Class MONDO:0032845 biolink:NamedThing spermatogenic failure 39 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 39|SPGF39 OMIM:618643 owl:Class UBERON:0011375 biolink:NamedThing skin of prepuce of clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014986 biolink:NamedThing Fanconi anemia complementation group R Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia caused by mutation in RAD51|RAD51 Fanconi anemia|Fanconi Anemia, complementation group R|FANCR|Fanconi anemia complementation group type R|Fanconi anemia, complementation GROUP R|Fanconi Anemia, complementation group type R OMIM:617244|UMLS:C4284093|DOID:0111090 owl:Class MONDO:0030908 biolink:NamedThing intellectual disability, X-linked, syndromic, 35 tmpte7i6ely_mondo_relaxed.owl syndromic X-linked intellectual disability 35|MRXS35|mental retardation, X-linked, syndromic, 35|syndromic X-linked mental retardation 35|intellectual disability, X-linked, syndromic, 35 DOID:0080241|Orphanet:435938|OMIM:300998 owl:Class UBERON:0015052 biolink:NamedThing femur endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001064 biolink:NamedThing acute eustachian salpingitis Acute form of otosalpingitis. tmpte7i6ely_mondo_relaxed.owl acute eustachian tube salpingitis|otosalpingitis, acute|acute otosalpingitis DOID:10550|SCTID:194268005|ICD10:H68.01|ICD10:H68.019|UMLS:C0155429|ICD9:381.51 owl:Class MONDO:0002172 biolink:NamedThing otosalpingitis An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube. tmpte7i6ely_mondo_relaxed.owl Eustachian tube salpingitis|inflammation of pharyngotympanic tube|pharyngotympanic tube inflammation|Eustachian salpingitis ICD10:H68.00|ICD9:381.50|SCTID:270491006|UMLS:C0155428|ICD10:H68.0|ICD9:381.5|ICD10:H68.009|DOID:2000 owl:Class MONDO:0002055 biolink:NamedThing benign eccrine breast spiradenoma A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells. tmpte7i6ely_mondo_relaxed.owl benign eccrine spiradenoma of breast|benign eccrine spiradenoma of the breast|benign breast eccrine spiradenoma|benign eccrine breast spiradenoma UMLS:C1332492|NCIT:C5193|DOID:1616 owl:Class UBERON:0036264 biolink:NamedThing zygomaticotemporal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017767 biolink:NamedThing rheumatic fever A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. tmpte7i6ely_mondo_relaxed.owl ARF|inflammatory rheumatism|acute rheumatic fever|RHF - rheumatic fever DOID:1586|Orphanet:3099|UMLS:C0035436|MESH:D012213|EFO:1001160|ICD9:390|GARD:0005699|OMIM:268240|ICD10:I00-I02|ICD10:I01.8|ICD9:390-392.99|ICD10:I01.2|MedDRA:10039054|SCTID:58718002|ICD10:I00|ICD10:I01.0|NCIT:C34984|ICD10:I01.9|ICD10:I01.1 https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever owl:Class MONDO:0001054 biolink:NamedThing double pterygium tmpte7i6ely_mondo_relaxed.owl SCTID:41564009|DOID:10525|UMLS:C0155157|ICD9:372.44 owl:Class UBERON:0014766 biolink:NamedThing right crus of diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024546 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene. tmpte7i6ely_mondo_relaxed.owl PDP, autosomal recessive|Cranioosteoarthropathy|Currarino idiopathic osteoarthropathy|PHOAR1|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|HPGD primary hypertrophic osteoarthropathy|Pho, autosomal recessive|primary hypertrophic osteoarthropathy caused by mutation in HPGD|pachydermoperiostosis, autosomal recessive|Touraine-Solente-Gole syndrome|familial idiopathic osteoarthropathy of childhood OMIM:259100|Orphanet:2796|Orphanet:1525|UMLS:C0029411 owl:Class GO:0015723 biolink:NamedThing bilirubin transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10618 biolink:NamedThing CCL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017934 biolink:NamedThing aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. tmpte7i6ely_mondo_relaxed.owl aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540|ICD10:Q87.0|UMLS:CN204076 owl:Class MONDO:0004443 biolink:NamedThing chest wall parachordoma A parachordoma arising from the chest wall. tmpte7i6ely_mondo_relaxed.owl parachordoma of the chest wall|chest wall parachordoma|parachordoma of chest wall DOID:8043|NCIT:C6720|UMLS:C1332934 owl:Class MONDO:0019733 biolink:NamedThing AFib amyloidosis tmpte7i6ely_mondo_relaxed.owl fibrinogen A alpha-chain amyloidosis|familial amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant UMLS:CN206640|Orphanet:93562|ICD10:E85.0 owl:Class MONDO:0023030 biolink:NamedThing dysmorphism cleft palate loose skin tmpte7i6ely_mondo_relaxed.owl GARD:0002009 https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin owl:Class MONDO:0005910 biolink:NamedThing phagocyte bactericidal dysfunction Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. tmpte7i6ely_mondo_relaxed.owl phagocytic dysfunction EFO:0007433|MESH:D010585|DOID:3262|UMLS:C0031306 Editor note: consider merging owl:Class CL:0002064 biolink:NamedThing pancreatic acinar cell A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules. tmpte7i6ely_mondo_relaxed.owl acinar cell of pancreas CALOHA:TS-0737|BTO:0000028|FMA:63032 tmeehan 2010-06-24T03:16:29Z cell owl:Class MONDO:0033544 biolink:NamedThing Tolchin-Le Caignec syndrome tmpte7i6ely_mondo_relaxed.owl TOLCHIN-LE CAIGNEC SYNDROME|TOLCAS|intellectual developmental disorder With behavioral abnormalities and variable bone defects OMIM:618971 owl:Class GO:0016407 biolink:NamedThing acetyltransferase activity Catalysis of the transfer of an acetyl group to an acceptor molecule. tmpte7i6ely_mondo_relaxed.owl acetylase activity owl:Class HGNC:6106 biolink:NamedThing FOXP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006137 biolink:NamedThing cervical intraepithelial neoplasia grade 2/3 A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia. tmpte7i6ely_mondo_relaxed.owl CIN 2/3 EFO:1000166|NCIT:C94676|UMLS:C2986622 owl:Class CL:0002306 biolink:NamedThing epithelial cell of proximal tubule An epithelial cell of the proximal tubule of the kidney. tmpte7i6ely_mondo_relaxed.owl kidney proximal tubule epithelial cell FMA:70973|KUPO:0001044|FMA:62125 cell owl:Class NCBITaxon:10240 biolink:NamedThing Poxviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016448 biolink:NamedThing pseudoxanthoma elasticum-like papillary dermal elastolysis Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. tmpte7i6ely_mondo_relaxed.owl PXE-PDE|PXE-like papillary dermal elastolysis SCTID:764105002|Orphanet:228293 owl:Class HP:0001392 biolink:NamedThing Abnormality of the liver An abnormality of the liver. tmpte7i6ely_mondo_relaxed.owl Liver abnormality|Liver disease|Abnormality of the liver|Abnormal liver MSH:D008107|SNOMEDCT_US:235856003|UMLS:C4021780|UMLS:C0023895 human_phenotype owl:Class MONDO:0015697 biolink:NamedThing immunoglobulin heavy chain deficiency tmpte7i6ely_mondo_relaxed.owl SCTID:234539005|Orphanet:169110|ICD10:D80.8|UMLS:C0398692|ICD9:279.03 owl:Class MONDO:0017136 biolink:NamedThing omodysplasia Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. tmpte7i6ely_mondo_relaxed.owl OMIM:164745|Orphanet:2733|SCTID:725164008|OMIMPS:258315|DOID:0060288|ICD10:Q78.8|UMLS:C1850318|MESH:C567664|OMIM:258315|UMLS:C4510897 owl:Class HGNC:4387 biolink:NamedThing GNAI3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014208 biolink:NamedThing Charcot-Marie-Tooth disease type 2R Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene. tmpte7i6ely_mondo_relaxed.owl CMT2R|Charcot-Marie-Tooth disease, axonal, type 2R|Charcot-Marie-Tooth neuropathy, type 2R|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|Charcot-Marie-Tooth disease type 2R|TRIM2 Charcot-Marie-Tooth disease type 2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2|Charcot-Marie-Tooth neuropathy type 2R ICD10:G60.0|Orphanet:397968|OMIM:615490|GARD:0012451|UMLS:C3809655|DOID:0110161 https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r owl:Class MONDO:0004411 biolink:NamedThing duodenal gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. tmpte7i6ely_mondo_relaxed.owl duodenal gastrin-producing neuroendocrine tumor|duodenal G-cell gastrin producing tumor|malignant duodenal gastrinoma|duodenal gastrinoma|gastrin producing tumor of the duodenum|gastrin-producing neuroendocrine tumor of duodenum|gastrinoma of the duodenum|gastrin producing tumor of duodenum|duodenum gastrin-producing neuroendocrine tumor|duodenal gastrin-producing NET|gastrinoma of duodenum UMLS:C1333321|NCIT:C5731|DOID:7959|EFO:1000224 owl:Class MONDO:0003523 biolink:NamedThing gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. tmpte7i6ely_mondo_relaxed.owl gastrin cell tumour|G-cell gastrin producing tumor|G-cell tumor|malignant gastrinoma|gastrinoma|gastrin-producing NET|G cell tumor|gastrin secreting tumor|gastrin-producing neuroendocrine tumor MESH:D015408|NCIT:C3050|DOID:5577|UMLS:CN206461|ICDO:8153/1 owl:Class MONDO:0017295 biolink:NamedThing glycerol kinase deficiency, juvenile form Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. tmpte7i6ely_mondo_relaxed.owl ICD10:E74.8|Orphanet:284411|OMIM:307030 owl:Class MONDO:0018459 biolink:NamedThing isolated glycerol kinase deficiency Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). tmpte7i6ely_mondo_relaxed.owl hyperglycerolemia|nonsyndromic glycerol kinase deficiency|isolated inborn glycerol kinase deficiency|nonsyndromic inborn glycerol kinase deficiency Orphanet:408|OMIM:307030|GARD:0002807|ICD10:E74.8 Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49 owl:Class MONDO:0015819 biolink:NamedThing indolent primary cutaneous B-cell lymphoma tmpte7i6ely_mondo_relaxed.owl Orphanet:178557 owl:Class GO:0016010 biolink:NamedThing dystrophin-associated glycoprotein complex A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. tmpte7i6ely_mondo_relaxed.owl dystrophin glycoprotein complex|DGC owl:Class MONDO:0018667 biolink:NamedThing pleural empyema The presence of pus in the thoracic cavity, between the visceral and parietal pleura. tmpte7i6ely_mondo_relaxed.owl abscess of thorax|purulent pleurisy|pleural empyema (disease)|abscess of pleural cavity|empyema of pleura|thorax abscess|purulent pleuritis|pleural empyema|pyothorax|empyema pleural empyema (disease) HP:0011919|SCTID:405950009|ICD10:J86|DOID:3798|Orphanet:449266|MESH:D016724|ICD10:J86.9 owl:Class UBERON:5003625 biolink:NamedThing manual digit 5 plus metapodial segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018206 biolink:NamedThing childhood-onset autosomal recessive myopathy with external ophthalmoplegia tmpte7i6ely_mondo_relaxed.owl Orphanet:363677|ICD10:G71.2|OMIM:605637 owl:Class HGNC:8806 biolink:NamedThing PDHA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004454 biolink:NamedThing cellular congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. tmpte7i6ely_mondo_relaxed.owl cellular congenital mesoblastic nephroma DOID:8082|UMLS:C1516474|NCIT:C39815 owl:Class MONDO:0003963 biolink:NamedThing diffuse infiltrative lymphocytosis syndrome This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. tmpte7i6ely_mondo_relaxed.owl diffuse infiltra. lymph. sydrome|diffuse infiltra. lymph. syndrome SCTID:449784008|DOID:6677|NCIT:C35699|UMLS:C1333292 owl:Class MONDO:0020455 biolink:NamedThing congenital partial agenesis of pericardium Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare. tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.8|Orphanet:99130 owl:Class MONDO:0009536 biolink:NamedThing chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation tmpte7i6ely_mondo_relaxed.owl lymphoblastic transformation, intrinsic defect IN|lymphoblastic transformation, intrinsic defect type 1N UMLS:C1855474|OMIM:247450|MESH:C565431 owl:Class MONDO:0004836 biolink:NamedThing intravascular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl intravascular nodular fasciitis|intravascular pseudosarcomatous fasciitis ICD9:728.79|UMLS:C0432529|DOID:9603|SCTID:254738007|NCIT:C4729 owl:Class HGNC:9832 biolink:NamedThing RAG2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2001025 biolink:NamedThing positive regulation of response to drug Any process that activates or increases the frequency, rate or extent of response to drug. tmpte7i6ely_mondo_relaxed.owl positive regulation of drug resistance|positive regulation of drug susceptibility/resistance owl:Class MONDO:0003327 biolink:NamedThing peripheral ganglioneuroblastoma A ganglioneuroblastoma arising from the peripheral nervous system. tmpte7i6ely_mondo_relaxed.owl peripheral nervous system ganglioneuroblastoma|ganglioneuroblastoma (disease) of peripheral nervous system|PNS ganglioneuroblastoma|peripheral ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease) DOID:5195|NCIT:C6594|UMLS:C1335387 Editor note: logical definition removed as it leads to equivalency with parent owl:Class CL:0000569 biolink:NamedThing cardiac mesenchymal cell A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:11768 biolink:NamedThing TGFB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000500 biolink:NamedThing tongue squamous cell carcinoma A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis. tmpte7i6ely_mondo_relaxed.owl scc of the tongue|scc of tongue|squamous cell carcinoma of tongue|tongue scc|tongue squamous cell carcinoma|squamous cell carcinoma of the tongue UMLS:C0007137|NCIT:C4648|UMLS:C0349566|MESH:D002294|NCIT:C2929|EFO:1000055|SCTID:402815007|SCTID:276952000|DOID:0050865 owl:Class ENVO:01000023 biolink:NamedThing marine pelagic biome The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011305 biolink:NamedThing cerebral cavernous malformation 3 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene. tmpte7i6ely_mondo_relaxed.owl PDCD10 familial cerebral cavernous malformation|familial cerebral cavernous malformation caused by mutation in PDCD10|cerebral cavernous malformations type 3|CCM3|cerebral cavernous malformations 3|cerebral cavernous malformation 3|cerebral cavernous malformation type 3 UMLS:C1864040|DOID:0060671|ICD10:Q28.3|Orphanet:221061|MESH:C566393|OMIM:603285 MONDO:0000821 owl:Class MONDO:0019160 biolink:NamedThing primary progressive freezing gait Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. tmpte7i6ely_mondo_relaxed.owl PPFG SCTID:715627004|UMLS:CN205712|UMLS:C4275078|Orphanet:75567 owl:Class MONDO:0100402 biolink:NamedThing acute myeloid leukemia, del(13q14-q21) Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.) tmpte7i6ely_mondo_relaxed.owl AML, del(13)(q14-q21)|AML, del(13q14-q21)|AML, del(13q)(13q14-21)|AML, del(13)(q14q21)|AML, 13q14-q21 Deletion NCIT:C168770 owl:Class HGNC:3534 biolink:NamedThing F13B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4114 biolink:NamedThing GAL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007199 biolink:NamedThing blepharochalasis, superior tmpte7i6ely_mondo_relaxed.owl blepharochalasis, superior OMIM:110000|UMLS:C1862275|MESH:C566223 owl:Class GO:0046031 biolink:NamedThing ADP metabolic process The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate. tmpte7i6ely_mondo_relaxed.owl ADP metabolism owl:Class GO:0009150 biolink:NamedThing purine ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpte7i6ely_mondo_relaxed.owl purine ribonucleotide metabolism owl:Class MONDO:0011652 biolink:NamedThing Phelan-McDermid syndrome Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. tmpte7i6ely_mondo_relaxed.owl Phelan-McDermid syndrome|monosomy type 22q13|22q13 deletion|telomeric 22Q13 monosomy syndrome|PHELAN-McDermid syndrome|22q13.3 deletion syndrome|PHMDS|chromosome 22Q13.3 deletion syndrome|Phelan McDermid syndrome|monosomy 22q13|deletion 22q13.3 syndrome SCTID:699310000|OMIM:606232|UMLS:C1853490|DOID:0080354|MESH:C536801|ICD9:758.39|Orphanet:48652|GARD:0010130|ICD10:Q93.5 owl:Class HGNC:13254 biolink:NamedThing FTSJ1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004786 biolink:NamedThing chronic cholangitis Cholangitis that is persistent and long-standing. tmpte7i6ely_mondo_relaxed.owl cholangitis, chronic NCIT:C35335|UMLS:C0267918|DOID:9439|SCTID:71912000 owl:Class MONDO:0008915 biolink:NamedThing dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, with hypergonadotropic hypogonadism|genital anomaly with cardiomyopathy|cardiogenital syndrome|dilated cardiomyopathy with hypergonadotropic hypogonadism|Najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|Malouf syndrome|cardiomyopathy with primary testicular failure|cardiomyopathy, dilated, with premature ovarian failure DOID:0111584|GARD:0003373|Orphanet:2229|SCTID:719451006|UMLS:C0796031|OMIM:212112|UMLS:C0796083|ICD10:Q87.8 owl:Class OBO:CHR_9606-chr20q13.2-q13.3 biolink:NamedThing 20q13.2-q13.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class UBERON:0003338 biolink:NamedThing ganglion of peripheral nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011170 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2G|Tcap autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to telethonin deficiency|limb-girdle muscular dystrophy, type 2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap|LGMD2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|TCAP autosomal recessive limb-girdle muscular dystrophy DOID:0110281|ICD10:G71.0|GARD:0010471|Orphanet:34514|MESH:C566599|SCTID:720522001|OMIM:601954 owl:Class MONDO:0011807 biolink:NamedThing systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|SLEH1|systemic lupus erythematosus, hemolytic Anemia-related OMIM:607279 owl:Class MONDO:0001752 biolink:NamedThing alveolar periostitis A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) tmpte7i6ely_mondo_relaxed.owl extrinsic allergic alveolitis of jaw skeleton|dry tooth socket|alveolitis of jaw|jaw skeleton extrinsic allergic alveolitis|dry socket ICD9:526.5|DOID:13585|SCTID:61804006|UMLS:C0013240|ICD10:M27.3|MESH:D004368 owl:Class MONDO:0006447 biolink:NamedThing testicular non-seminomatous germ cell tumor A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. tmpte7i6ely_mondo_relaxed.owl testicular germ cell tumor non-seminomatous|testicular non-dysgerminomatous germ cell tumor|non-dysgerminomatous germ cell tumor of testis|testicular non-seminomatous germ cell tumor|testicular non seminomatous germ cell tumor|non-seminomatous germ cell tumor of testis UMLS:C1336724|ICD10:C62.1|NCIT:C9313|UMLS:CN204702|DOID:4086|EFO:1000570|ICDO:9065/3|OMIM:273300|Orphanet:363494 owl:Class MONDO:0009827 biolink:NamedThing pachyonychia congenita, autosomal recessive tmpte7i6ely_mondo_relaxed.owl pachyonychia congenita, autosomal recessive UMLS:C1850103|MESH:C538094|OMIM:260130 Editor note: we currently classify PC as AD owl:Class MONDO:0000928 biolink:NamedThing eyelid melanoma A melanoma that arises from the upper or lower eyelid. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of the eyelid|malignant eyelid melanoma|malignant melanoma of eyelid|melanoma of the eyelid|eyelid melanoma (disease)|melanoma of eyelid|eyelid melanoma|melanoma (disease) of eyelid SCTID:231834005|NCIT:C4358|DOID:10040|UMLS:C0339116|ICD9:172.1 owl:Class MONDO:0005325 biolink:NamedThing radius fracture Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. tmpte7i6ely_mondo_relaxed.owl EFO:0003957|NCIT:C99039|SCTID:12676007|MESH:D011885 owl:Class MONDO:0010514 biolink:NamedThing combined immunodeficiency due to moesin deficiency tmpte7i6ely_mondo_relaxed.owl immunodeficiency 50|IMD50|immunodeficiency type 50|Cid due to Moesin deficiency|immunodeficiency 50, X-linked recessive|X-linked Moesin-associated immunodeficiency|MSN-related combined immunodeficiency OMIM:300988|Orphanet:504530|UMLS:C4310812 owl:Class UBERON:0009503 biolink:NamedThing mesenchyme of hindgut tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003011 biolink:NamedThing Abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body. tmpte7i6ely_mondo_relaxed.owl Muscular abnormality UMLS:C4021745 HP:0003708|HP:0040290|HP:0003197 human_phenotype owl:Class UBERON:0004426 biolink:NamedThing proximal epiphysis of fifth metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000873 biolink:NamedThing lymphoblastic lymphoma A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma. tmpte7i6ely_mondo_relaxed.owl precursor lymphoblastic lymphoma|lymphoma, lymphoblastic, malignant|precursor cell lymphoblastic lymphoma|lymphoma, lymphoblastic|lymphoblastic lymphoma ICD9:202.80|ICDO:9727/3|NCIT:C9360|SCTID:109965004|DOID:0080147|GARD:0003329|UMLS:C0079748 https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma owl:Class MONDO:0100146 biolink:NamedThing ATP6AP2-related disorder Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes. tmpte7i6ely_mondo_relaxed.owl ATP6AP2-related disorder http://orcid.org/0000-0001-5208-3432 owl:Class GO:2000310 biolink:NamedThing regulation of NMDA receptor activity Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity. tmpte7i6ely_mondo_relaxed.owl regulation of N-methyl-D-aspartate selective glutamate receptor activity owl:Class HP:0003677 biolink:NamedThing Slowly progressive Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. tmpte7i6ely_mondo_relaxed.owl Slow progression|Signs and symptoms worsen slowly with time|Slowly progressive disorder|Slow disease progression UMLS:C1854494 HP:0003675|HP:0003681 human_phenotype owl:Class UBERON:0012193 biolink:NamedThing phrenic vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013704 biolink:NamedThing intellectual disability, autosomal recessive 30 tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 30|mental retardation, autosomal recessive 30|MRT30 Orphanet:88616|OMIM:614342|UMLS:C3280540 owl:Class HGNC:17158 biolink:NamedThing PLD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009233 biolink:NamedThing Fibulo-ulnar hypoplasia-renal anomalies syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl Saito Kuba Tsuruta syndrome|FIBULOULNAR aplasia or hypoplasia with renal abnormalities|Fibulo ulnar hypoplasia renal anomalies|Saito-Kuba-Tsuruta syndrome GARD:0000320|OMIM:228940|MESH:C537226|ICD10:Q87.8|SCTID:716094008|Orphanet:2256|UMLS:C1856727 owl:Class MONDO:0017381 biolink:NamedThing congenital herpes simplex virus infection Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. tmpte7i6ely_mondo_relaxed.owl congenital herpes simplex|Simplexvirus infectious embryofetopathy|neonatal herpes simplex virus infection|neonatal herpes simplex|antenatal herpes simplex virus infection|mother-to-child transmission of herpes simplex virus infection|Simplexvirus caused infectious embryofetopathy|congenital herpes simplex infection|neonatal HSV infection ICD9:771.2|UMLS:C0276225|SCTID:91576008|Orphanet:293|GARD:0001486|ICD10:P35.2|GARD:0007173 MONDO:0022267 https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex owl:Class MONDO:0013100 biolink:NamedThing atrial fibrillation, familial, 8 tmpte7i6ely_mondo_relaxed.owl ATFB8|atrial fibrillation, familial, 8 MESH:C567802|Orphanet:334|OMIM:613055|UMLS:C2751607 owl:Class CL:0002112 biolink:NamedThing B220-positive CD38-negative unswitched memory B cell A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0030840 biolink:NamedThing mismatch repair cancer syndrome 2 tmpte7i6ely_mondo_relaxed.owl MMRCS2|mismatch repair cancer syndrome 2 OMIM:619096 owl:Class MONDO:0030873 biolink:NamedThing cardiofacioneurodevelopmental syndrome tmpte7i6ely_mondo_relaxed.owl CFNDS OMIM:619123 owl:Class CHEBI:35219 biolink:NamedThing plant growth retardant tmpte7i6ely_mondo_relaxed.owl plant growth inhibitors|plant growth inhibitor|plant growth retardants owl:Class MONDO:0019288 biolink:NamedThing skin pigmentation disorder A pigmentation disease that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl pigmentation disease|pigmentation disease of zone of skin|pigmentation anomaly of the skin|zone of skin pigmentation disease EFO:1000755|Orphanet:79374|ICD9:709.09|DOID:10123|MESH:D010859 owl:Class CHEBI:27638 biolink:NamedThing cobalt atom A cobalt group element atom that has atomic number 27. tmpte7i6ely_mondo_relaxed.owl cobalt|27Co|cobaltum|cobalto|Kobalt|Co|Cobalt owl:Class MONDO:0032903 biolink:NamedThing arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum tmpte7i6ely_mondo_relaxed.owl AMCNACC|arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum|Zain Syndrome OMIM:618766 owl:Class NCBITaxon:53469 biolink:NamedThing Ancylostomatinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023563 biolink:NamedThing Kotzot-Richter syndrome tmpte7i6ely_mondo_relaxed.owl albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies UMLS:C2931399|MESH:C537025|GARD:0003134 https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome owl:Class MONDO:0042965 biolink:NamedThing Machado-Joseph disease type 5 A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia. tmpte7i6ely_mondo_relaxed.owl azorean disease, type V ICD9:334.3 owl:Class CHEBI:24669 biolink:NamedThing hydroxy carboxylic acid Any carboxylic acid with at least one hydroxy group. tmpte7i6ely_mondo_relaxed.owl hydroxycarboxylic acid|hydroxycarboxylic acids|hydroxy carboxylic acids owl:Class FOODON:00002645 biolink:NamedThing food product by process A food product organized by the process which it results from. tmpte7i6ely_mondo_relaxed.owl 2019-05-23 23:02:07+00:00 Damion Dooley owl:Class CL:1000333 biolink:NamedThing serous cell of epithelium of lobular bronchiole A serous secreting cell that is part of the epithelium of bronchiole. tmpte7i6ely_mondo_relaxed.owl FMA:263084 cell owl:Class MONDO:0014095 biolink:NamedThing dilated cardiomyopathy 1JJ Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene. tmpte7i6ely_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in LAMA4|cardiomyopathy, dilated, 1JJ|CMD1JJ|LAMA4 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Jj|dilated cardiomyopathy type 1JJ OMIM:615235|ICD10:I42.0|DOID:0110438|UMLS:C3808935 owl:Class MONDO:0025956 biolink:NamedThing ovarian remnant syndrome Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function. tmpte7i6ely_mondo_relaxed.owl GARD:0007297 owl:Class OGMS:0000060 biolink:NamedThing bodily process A process in which at least one bodily component of an organsim participates. tmpte7i6ely_mondo_relaxed.owl From OGMS: http://purl.obolibrary.org/obo/OGMS_0000060 creation date: 2009-06-23T11:53:49Z http://www.jbiomedsem.com/content/1/1/10 Albert Goldfain owl:Class HP:0000846 biolink:NamedThing Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. tmpte7i6ely_mondo_relaxed.owl Hypoadrenalism SNOMEDCT_US:237785004|SNOMEDCT_US:386584007|UMLS:C0001623|SNOMEDCT_US:111563005|MSH:D000309 Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. HP:0008218|HP:0000865 human_phenotype owl:Class MONDO:0003880 biolink:NamedThing ceruminous carcinoma An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. tmpte7i6ely_mondo_relaxed.owl ceruminous adenocarcinoma (morphologic abnormality)|ceruminous adenocarcinoma|carcinoma, ceruminous gland, malignant DOID:6446|ICDO:8420/3|UMLS:C0334353|NCIT:C4176 owl:Class MONDO:0018145 biolink:NamedThing congenital retinal arteriovenous communication tmpte7i6ely_mondo_relaxed.owl congenital arteriovenous anastomoses of the retina|congenital retinal arteriovenous anastomoses|congenital arteriovenous communication of the retina Orphanet:353334|ICD10:Q14.8 owl:Class MONDO:0021650 biolink:NamedThing uterine corpus neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. tmpte7i6ely_mondo_relaxed.owl body of uterus neuroendocrine neoplasm|neuroendocrine neoplasm of body of uterus|body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|body of uterus neuroendocrine tumor|uterine corpus neuroendocrine neoplasm|uterine corpus neuroendocrine tumor|body of uterus NET UMLS:C4288048|NCIT:C126771 owl:Class MONDO:0014924 biolink:NamedThing epilepsy, familial focal, with variable foci 2 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, familial focal, with variable foci caused by mutation in NPRL2|NPRL2 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 2|FFEVF2|epilepsy, familial focal, with variable foci 2; FFEVF2|epilepsy, familial focal, with variable foci type 2 OMIM:617116|UMLS:C4310709 owl:Class MONDO:0013671 biolink:NamedThing hydatidiform mole, recurrent, 2 Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene. tmpte7i6ely_mondo_relaxed.owl hydatidiform Mole, recurrent, type 2|KHDC3L complete hydatidiform mole|hydatidiform MOLE, recurrent, 2|hydatidiform mole, recurrent, 2|complete hydatidiform mole caused by mutation in KHDC3L|HYDM2|hydatidiform Mole, complete Orphanet:254688|OMIM:614293|UMLS:C3280352|Orphanet:99927|UMLS:C0678213 owl:Class MONDO:0011911 biolink:NamedThing craniolenticulosutural dysplasia Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. tmpte7i6ely_mondo_relaxed.owl cranio-lenticulo-sutural dysplasia, CLSD|CLSD|craniolenticulosutural dysplasia|Boyadjiev-Jabs syndrome MESH:C564332|Orphanet:50814|OMIM:607812|UMLS:C1843042|ICD10:Q75.8|DOID:0070307|SCTID:725100001 owl:Class MONDO:0010113 biolink:NamedThing thalidomide susceptibility tmpte7i6ely_mondo_relaxed.owl thalidomide susceptibility 2022-05-01 OMIM:273600 Reason: out of scope. Term to consider: None owl:Class SO:0000185 biolink:NamedThing primary_transcript A transcript that in its initial state requires modification to be functional. tmpte7i6ely_mondo_relaxed.owl INSDC_feature:prim_transcript|precursor RNA|INSDC_feature:precursor_RNA|primary transcript owl:Class MONDO:0002204 biolink:NamedThing transient arthritis Arthritis that is not permanent. tmpte7i6ely_mondo_relaxed.owl transient arthropathy DOID:2092|NCIT:C35761|SCTID:6011000119108|SCTID:66191007|UMLS:C3887596|ICD10:M12.8|UMLS:C0152083|ICD9:716.40|ICD9:716.4 owl:Class MONDO:0001429 biolink:NamedThing transient arthropathy Arthropathy that is not permanent. tmpte7i6ely_mondo_relaxed.owl transient arthropathy involving upper arm|transient arthropathy involving lower leg|transient arthropathy involving shoulder region|transient arthropathy involving forearm|transient arthropathy involving pelvic region and thigh|transient arthropathy involving multiple sites|transient arthropathy involving hand ICD9:716.41|ICD9:716.48|SCTID:66191007|DOID:12084|UMLS:C0152083|ICD9:716.40|NCIT:C35761 owl:Class GO:1902224 biolink:NamedThing ketone body metabolic process The chemical reactions and pathways involving ketone body. tmpte7i6ely_mondo_relaxed.owl ketone body metabolism owl:Class MONDO:0008060 biolink:NamedThing nonsyndromic congenital nail disorder 1 Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nail dysplasia|inherited isolated nail anomaly caused by mutation in FZD6|nonsyndromic congenital nail disorder type 10|nail disorder, nonsyndromic congenital, 1|idiopathic trachyonychia|twenty-nail dystrophy|FZD6 inherited isolated nail anomaly|trachyonychia|nonsyndromic congenital nail disorder type 1|sandpaper nails|nail disorder, nonsyndromic congenital, 10|onychodystrophy totalis, isolated|claw-Shaped nails|nail Growth|twenty nail dystrophy|onychauxis, hyponychia, and onycholysis|nonsyndromic congenital nail disorder 10|autosomal dominant nail dysplasia|NDNC10|nail disorder, nonsyndromic congenital 1|nail disorder, nonsyndromic congenital, type 10|onychodystrophy totalis|NDNC1 MESH:C562907|Orphanet:79153|DOID:0080088|UMLS:C3279974|ICD9:703.8|DOID:0080079|OMIM:161050|ICD10:Q84.6|ICD10:L60.3|UMLS:C0406443|GARD:0010363|Orphanet:280654|SCTID:238719003 owl:Class MONDO:0032910 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 34 tmpte7i6ely_mondo_relaxed.owl MC1DN34|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 OMIM:618776 owl:Class GO:0031268 biolink:NamedThing pseudopodium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. tmpte7i6ely_mondo_relaxed.owl pseudopodium organization and biogenesis|pseudopodium organisation owl:Class MONDO:0014919 biolink:NamedThing sessile serrated polyposis cancer syndrome tmpte7i6ely_mondo_relaxed.owl sessile serrated polyposis cancer syndrome; SSPCS|sessile serrated polyposis cancer syndrome|SSPCS UMLS:C4310714|OMIM:617108 owl:Class HGNC:5044 biolink:NamedThing HNRNPK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013991 biolink:NamedThing obesity due to congenital leptin deficiency Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. tmpte7i6ely_mondo_relaxed.owl leptin deficiency or dysfunction|LEPD|obesity, morbid, nonsyndromic 1 Orphanet:66628|ICD10:E66.8|UMLS:C3554224|GARD:0013015|DOID:0111334|OMIM:614962 https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency owl:Class HGNC:17652 biolink:NamedThing PORCN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013996 biolink:NamedThing focal facial dermal dysplasia type II Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. tmpte7i6ely_mondo_relaxed.owl Brauer-Setleis syndrome|FFDD2|FFDD type II|focal facial dermal dysplasia 2, Brauer-Setleis type ICD10:Q82.8|Orphanet:398166|Orphanet:398173|UMLS:C3554245|OMIM:614973 owl:Class HGNC:32689 biolink:NamedThing SLFN14 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:76835 biolink:NamedThing EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*). tmpte7i6ely_mondo_relaxed.owl oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|EC 1.1.1.* inhibitors|EC 1.1.1.* inhibitor owl:Class CHEBI:76726 biolink:NamedThing EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*). tmpte7i6ely_mondo_relaxed.owl inhibitors of oxidoreductase acting on CH-OH group of donor|oxidoreductase acting on donor CH-OH group inhibitor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|oxidoreductase acting on donor CH-OH group inhibitors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors|EC 1.1.* inhibitor|inhibitors of oxidoreductase acting on CH-OH group of donors|inhibitor of oxidoreductase acting on CH-OH group of donors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|EC 1.1.* inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donor owl:Class MONDO:0010183 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblF A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|MAHCF|cobalamin, defect in lysosomal release of|lysosomal membrane cobalamin transporter deficiency|methylmalonic aciduria due to vitamin B12-release defect|cobalamin locus f variant|methylmalonic acidemia and homocystinuria, cblF type|cblF defect|methylmalonic aciduria and homocystinuria type cblF|cobalamin F disease|methylmalonic aciduria with homocystinuria, type cblF|cobalamin F deficiency|inherited methylmalonic acidemia and homocystinuria|methylmalonic aciduria and homocystinuria, cblF type|vitamin B12 storage disease|methylmalonic acidemia with homocystinuria type cblF|cobalamin F defect|vitamin B12 lysosomal release defect|cblF methylmalonic acidemia and homocystinuria MESH:C564747|OMIM:277380|SCTID:80887004|Orphanet:26|Orphanet:79284|DOID:0050717|ICD10:E72.1|GARD:0003584 Editor note: TODO - relevant annotation from GO owl:Class MONDO:0011705 biolink:NamedThing lymphangioleiomyomatosis A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites. tmpte7i6ely_mondo_relaxed.owl lymphangioleiomyomatosis|lung lymphangioleiomyomatosis|lymphangiomyomatosis|lymphangio-myomatosis|pulmonary lymphangioleiomyomatosis|LAM OMIM:606690|ICDO:9174/1|ICD10:J84.81|NCIT:C3725|NCIT:C38153 https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis|https://github.com/monarch-initiative/mondo/issues/4016 owl:Class MONDO:0007218 biolink:NamedThing brachydactyly type A4 Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit. tmpte7i6ely_mondo_relaxed.owl brachymesophalangy II and V|Brachymesophalangy 2 and 5|brachydactyly, type A4|BDA4|brachydactyly, Temtamy type|brachydactyly Temtamy type|Temtamy type brachydactyly|Brachymesophalangy II and V SCTID:715721005|GARD:0000990|Orphanet:93394|MESH:C537097|DOID:0110967|OMIM:112800|ICD10:Q73.8 https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4 owl:Class MONDO:0011964 biolink:NamedThing DPAGT1-CDG DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). tmpte7i6ely_mondo_relaxed.owl congenital disorder of glycosylation type 1j|CDG syndrome type Ij|congenital disorder of glycosylation type Ij|CDGIj|congenital disorder of glycosylation, type Ij|CDG 1J|dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|CDG Ij|CDG-Ij|carbohydrate deficient glycoprotein syndrome type Ij|CDG1J|DPAGT1-CDG (CDG-Ij) OMIM:608093|Orphanet:86309|SCTID:725079003|NCIT:C126874|ICD10:E77.8|GARD:0009837|DOID:0080562|UMLS:C2931004|MESH:C535748 owl:Class MONDO:0021340 biolink:NamedThing intertrigo A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation. tmpte7i6ely_mondo_relaxed.owl Intertrigo|Erythema intertrigo|Eczema intertrigo UMLS:C0021807|MESH:D007402|SCTID:58759008|ICD9:695.89 owl:Class NCBITaxon:2085 biolink:NamedThing Mycoplasmatales tmpte7i6ely_mondo_relaxed.owl The Mycoplasmas|Pleuropneumoniales|Mollicutales|Borrelomycetales|Mycoplasmas|Paramycetales PMID:16350067|GC_ID:4 NCBITaxon:2091 ncbi_taxonomy owl:Class UBERON:0018256 biolink:NamedThing lacrimal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003331 biolink:NamedThing ovarian monodermal teratoma A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. tmpte7i6ely_mondo_relaxed.owl monodermal teratoma (morphologic abnormality)|ovarian monodermal teratoma|monodermal teratoma DOID:5207|UMLS:C1302569|NCIT:C7286 owl:Class OBO:CHR_9606-chr16p13.2 biolink:NamedThing 16p13.2 (Human) tmpte7i6ely_mondo_relaxed.owl 10400000 7800000 hg38 owl:Class MONDO:0004445 biolink:NamedThing bladder papillary clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern. tmpte7i6ely_mondo_relaxed.owl bladder papillary clear cell adenocarcinoma DOID:8051|NCIT:C39848|UMLS:C1511196 owl:Class MONDO:0007027 biolink:NamedThing non-alcoholic steatohepatitis Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. tmpte7i6ely_mondo_relaxed.owl nonalcoholic Steatohepatitis|nash - nonalcoholic Steatohepatitis DOID:0080547|MedDRA:10053219|ICD10:K75.81|EFO:1001249|NCIT:C84445 owl:Class MONDO:0008625 biolink:NamedThing urate-binding globulin, decrease 1N tmpte7i6ely_mondo_relaxed.owl urate-binding globulin, decrease IN|urate-binding globulin, decrease type 1N 2022-04-01 MESH:C566013|UMLS:C1860587|OMIM:191530 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0012486 biolink:NamedThing preauricular tag, isolated, autosomal dominant, 1 tmpte7i6ely_mondo_relaxed.owl preauricular tag, isolated, autosomal dominant, 1|preauricular Tag, isolated, autosomal dominant, type 1 MESH:C566904|UMLS:C1968893|OMIM:610420 owl:Class MONDO:0700107 biolink:NamedThing chromosome 19q13.11 deletion syndrome, distal Chromosome 19q13.11 deletion syndrome in which the distal region was deleted. tmpte7i6ely_mondo_relaxed.owl OMIM:613026 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0006808 biolink:NamedThing intracranial arterial disease Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. tmpte7i6ely_mondo_relaxed.owl EFO:1000990|DOID:13089|MESH:D020765|UMLS:C0752138 owl:Class HP:0002023 biolink:NamedThing Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. tmpte7i6ely_mondo_relaxed.owl Absent anus|Imperforate anus SNOMEDCT_US:204731006|Fyler:4402|Fyler:4443|MSH:D001006|UMLS:C0003466|SNOMEDCT_US:204712000|MEDDRA:10002120 HP:0001550 human_phenotype owl:Class HP:0004378 biolink:NamedThing Abnormality of the anus Abnormality of the anal canal. tmpte7i6ely_mondo_relaxed.owl Abnormality of the anus UMLS:C4025329 The anal canal is continuous proximally with the rectum and distally terminates with the anus. peter 2008-03-18T08:11:00Z human_phenotype owl:Class CL:0002521 biolink:NamedThing subcutaneous fat cell A fat cell that is part of subcutaneous adipose tissue. tmpte7i6ely_mondo_relaxed.owl subcutaneous adipocyte tmeehan 2011-02-21T02:51:22Z cell owl:Class MONDO:0012468 biolink:NamedThing rhizomelic dysplasia, scoliosis, and retinitis pigmentosa tmpte7i6ely_mondo_relaxed.owl rhizomelic dysplasia, scoliosis, and retinitis pigmentosa GARD:0009968|MESH:C537610|UMLS:C1853197|OMIM:610319 https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa owl:Class MONDO:0013694 biolink:NamedThing intellectual disability, autosomal recessive 31 tmpte7i6ely_mondo_relaxed.owl MRT31|mental retardation, autosomal recessive 31|intellectual disability, autosomal recessive 31 OMIM:614329|UMLS:C3280523 owl:Class MONDO:0100409 biolink:NamedThing acute myeloid leukemia, t(3;5)(q25;q34) Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.) tmpte7i6ely_mondo_relaxed.owl AML, t(3;5)(q25;q34) NCIT:C7600|NCIT:C36415 owl:Class HGNC:26922 biolink:NamedThing ERCC6L2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015484 biolink:NamedThing cysticercosis Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. tmpte7i6ely_mondo_relaxed.owl tapeworm infection: intestinal taenia solum|pork tapeworm infection|neurocysticercosis|tapeworm infection: pork|intestinal taenia solium infection|tapeworm infection: [intestinal taenia solium] or [pork]|tenia solium infectious disease EFO:0007231|ICD10:B69.9|NCIT:C34520|ICD9:123.1|ICD10:B69.8|UMLS:C0010678|DOID:10079|GARD:0008194|SCTID:59051007|MESH:D003551|MedDRA:10011775|ICD10:B69|Orphanet:1560|ICD10:B69.1|UMLS:C0338437|ICD10:B69.0 owl:Class MONDO:0009062 biolink:NamedThing cystic fibrosis-gastritis-megaloblastic anemia syndrome A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. tmpte7i6ely_mondo_relaxed.owl Lubani Al Saleh Teebi syndrome|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|Lubani-Al Saleh-Teebi syndrome|cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies|cystic fibrosis gastritis megaloblastic anemia Orphanet:2575|GARD:0003303|MESH:C537039|OMIM:219721|SCTID:720401009 owl:Class MONDO:0020407 biolink:NamedThing complete atrioventricular canal-ventricle hypoplasia syndrome tmpte7i6ely_mondo_relaxed.owl complete atrioventricular canal type B|CAVC-ventricle hypoplasia syndrome|CAVC type B UMLS:CN207279|ICD10:Q21.2|Orphanet:99067 owl:Class MONDO:0015273 biolink:NamedThing complete atrioventricular canal Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. tmpte7i6ely_mondo_relaxed.owl common atrioventricular canal|complete atrioventricular septal defect|CAVC MESH:C535974|Orphanet:1329|ICD9:745.69|ICD10:Q21.2|GARD:0001454|SCTID:360481003 https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal owl:Class MONDO:0009648 biolink:NamedThing peripheral motor neuropathy-dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome MESH:C536988|OMIM:252320|Orphanet:2400|UMLS:C1854961 owl:Class UBERON:0005195 biolink:NamedThing deferent duct vein tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24867 biolink:NamedThing monoatomic ion tmpte7i6ely_mondo_relaxed.owl monoatomic ions owl:Class HGNC:11056 biolink:NamedThing SLC6A9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002351 biolink:NamedThing glottis cancer A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas. tmpte7i6ely_mondo_relaxed.owl glottis cancer|malignant tumor of the glottis|malignant glottis neoplasm|malignant neoplasm of the glottis|malignant glottis tumor|cancer of glottis|Ca larynx - glottis|malignant tumor of glottis|malignant neoplasm of glottis NCIT:C3544|DOID:2595|SCTID:187841006|ICD9:161.0|UMLS:C0153483|ICD10:C32.0 owl:Class UBERON:0001394 biolink:NamedThing axillary artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18294 biolink:NamedThing ALG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003290 biolink:NamedThing simple partial epilepsy tmpte7i6ely_mondo_relaxed.owl DOID:5129|ICD9:345.51 owl:Class UBERON:0010303 biolink:NamedThing extraembryonic epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033546 biolink:NamedThing neurodegeneration, infantile-onset, biotin-responsive tmpte7i6ely_mondo_relaxed.owl Sodium-Dependent Multivitamin Transporter Deficiency|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE|Smvt Deficiency|NERIB OMIM:618973 owl:Class UBERON:0001815 biolink:NamedThing lumbosacral nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006993 biolink:NamedThing systolic heart failure Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying. tmpte7i6ely_mondo_relaxed.owl ICD10:I50.2|DOID:9651|EFO:1001207|MESH:D054143|ICD9:428.2|ICD9:428.20|UMLS:C1135191|SCTID:417996009|ICD10:I50.20|MedDRA:10074631 owl:Class CL:0009039 biolink:NamedThing colon goblet cell A goblet cell that is located in the colon. tmpte7i6ely_mondo_relaxed.owl goblet cell of colon owl:Class UBERON:0004403 biolink:NamedThing periosteum of epiphysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007528 biolink:NamedThing Ehlers-Danlos syndrome, autosomal dominant, type unspecified tmpte7i6ely_mondo_relaxed.owl EDS, unspecified type|Ehlers-Danlos syndrome, Friedman-Harrod type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified MESH:C562424|UMLS:C0220679|OMIM:130090 owl:Class GO:0042165 biolink:NamedThing neurotransmitter binding Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020479 biolink:NamedThing pituitary gigantism The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. tmpte7i6ely_mondo_relaxed.owl infantile and juvenile forms of acromegaly|gigantism|hypophyseal gigantism Orphanet:99725|SCTID:86073008|ICD10:E22.0|MedDRA:10018265|OMIM:102200|NCIT:C93046|GARD:0006506|MESH:D005877 owl:Class HGNC:2708 biolink:NamedThing DCR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010555 biolink:NamedThing X-linked chondrodysplasia punctata 1 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia punctata, brachytelephalangic|Cpxr|X-linked chondrodysplasia punctata caused by mutation in ARSE|X-linked chondrodysplasia punctata caused by mutation in arse|chondrodysplasia punctata brachytelephalangic|brachytelephalangic chondrodysplasia punctata|arylsulfatase E deficiency|chondrodysplasia punctata 1, X-linked recessive|ARSE X-linked chondrodysplasia punctata|chondrodysplasia punctata, Brachytelephalangic|arse X-linked chondrodysplasia punctata|CPXR|CDPX1|chondrodysplasia punctata 1 X-linked recessive|X-linked chondrodysplasia punctata 1 ICD10:Q77.3|Orphanet:79345|GARD:0001296|OMIM:302950|OMIM:602497|UMLS:C1844853|UMLS:C3669395 https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive owl:Class MONDO:0025159 biolink:NamedThing pneumonia of swine, mycoplasmal A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection. tmpte7i6ely_mondo_relaxed.owl enzootic pneumonia of pigs|pneumonia of swine, enzootic|Mycoplasma pneumonia of swine|enzootic pneumonia of swine|swine enzootic pneumonia|swine Mycoplasmal pneumonia|Mycoplasmal pneumonia of swine|Mycoplasma pneumonia of pigs|swine Mycoplasma pneumonia UMLS:C1258090|MESH:D045729 owl:Class MONDO:0008855 biolink:NamedThing MHC class II deficiency Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood. tmpte7i6ely_mondo_relaxed.owl Bare lymphocyte syndrome|Bls, type 2|Bare lymphocyte syndrome, type II, complementation group E|severe combined immunodeficiency, HLA Class II-negative|Bare lymphocyte syndrome 2|BLS|Bare lymphocyte syndrome type 2|SCID due to absent class II HLA antigens|BARE lymphocyte syndrome, type II, complementation group D, included|BARE lymphocyte syndrome, type II, complementation group C, included|bare lymphocyte syndrome type II|BLSII|Bare lymphocyte syndrome, type II, complementation group C|SCID, HLA Class 2-negative|immunodeficiency by defective expression of HLA class 2|SCID, HLA Class II-negative|severe combined immunodeficiency, HLA class ii-negative|BLS type II|HLA class 2-negative severe combined immunodeficiency|Bare lymphocyte syndrome, type II, complementation group D|Bare lymphocyte syndrome, type II, complementation group A|major histocompatibility complex class II expression deficiency|BLS, type II|BARE lymphocyte syndrome|HLA class 2-negative SCID|immunodeficiency by defective expression of HLA class type 2|MHC class II expression deficiency|BARE lymphocyte syndrome, type II, complementation group E, included|BARE lymphocyte syndrome, type II|Bare lymphocyte syndrome, type 2|BARE lymphocyte syndrome, type II, complementation group B, included|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|Bare lymphocyte syndrome, type II|Bare lymphocyte syndrome, type II, complementation group B|BLS 2 DOID:5812|NCIT:C3895|UMLS:CN239286|SCTID:71904008|ICD10:D81.7|MESH:C537079|GARD:0000824|ICD10:D81.6|Orphanet:572|OMIM:209920 https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2 owl:Class MONDO:0032883 biolink:NamedThing intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES|IDDBCS OMIM:618725 owl:Class UBERON:0005367 biolink:NamedThing hippocampus granule cell layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012564 biolink:NamedThing Polyosteolysis-hyperostosis syndrome tmpte7i6ely_mondo_relaxed.owl Polyosteolysis-hyperostosis syndrome|Polyosteolysis/hyperostosis syndrome OMIM:610830|UMLS:C1835818|MESH:C563658|GARD:0010456 https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome owl:Class CL:0002585 biolink:NamedThing retinal blood vessel endothelial cell A blood vessel endothelial cell that is part of the retina. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T03:28:27Z cell owl:Class GO:0080134 biolink:NamedThing regulation of response to stress Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012537 biolink:NamedThing split-hand/foot malformation with long bone deficiency 2 tmpte7i6ely_mondo_relaxed.owl split-hand/foot malformation with long bone deficiency 2|SHFLD2 OMIM:610685|Orphanet:3329|MESH:C565199|UMLS:C1853156 owl:Class MONDO:0016523 biolink:NamedThing bronchogenic cyst Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. tmpte7i6ely_mondo_relaxed.owl bronchogenic cyst (disease)|bronchogenic cyst bronchogenic cyst (disease) MESH:D001994|Orphanet:2357|ICD10:J98.4|MedDRA:10064585|HP:0100730|GARD:0001025 owl:Class MONDO:0043310 biolink:NamedThing amaurosis fugax Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245) tmpte7i6ely_mondo_relaxed.owl blindness, monocular, transient|amaurosis fugax|momentary blindness|transient monocular blindness|amaurosis fugax (one sided temporary vision loss)|monocular blindness, transient|blindness, transient monocular GARD:0009660|MESH:D020757|SCTID:88032003|NCIT:C84550 owl:Class CL:0002021 biolink:NamedThing GlyA-positive erythrocyte An enucleate erythrocyte that is GlyA-positive. tmpte7i6ely_mondo_relaxed.owl Marker is associated with human cell types. tmeehan 2010-04-26T11:51:22Z cell owl:Class GO:0034440 biolink:NamedThing lipid oxidation The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005866 biolink:NamedThing mycobacterium avium complex disease An infection that is caused by Mycobacterium avium. tmpte7i6ely_mondo_relaxed.owl DMAC|Mycobacterium avium complex infectious disease|disseminated infection with mycobacterium avium complex|Mycobacterium avium complex disease or disorder|MAC disease|infection due to Mycobacterium intracellulare|Mycobacterium avium Complex|Mycobacterium avium complex caused disease or disorder|Mycobacterium avium infection UMLS:C0026916|SCTID:373436002|GARD:0009236|MESH:D015270|NCIT:C36197|EFO:0007386|ICD9:031.8|DOID:2755 https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex owl:Class GO:0050869 biolink:NamedThing negative regulation of B cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. tmpte7i6ely_mondo_relaxed.owl down-regulation of B cell activation|inhibition of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B-cell activation|down regulation of B cell activation|negative regulation of B lymphocyte activation|downregulation of B cell activation owl:Class MONDO:0016393 biolink:NamedThing hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl Bosma-Henkin-Christiansen syndrome|Bosma arhinia-microphthalmia syndrome OMIM:603457|Orphanet:2250|ICD10:Q87.8|UMLS:CN201299 owl:Class MONDO:0011323 biolink:NamedThing arhinia, choanal atresia, and microphthalmia tmpte7i6ely_mondo_relaxed.owl Bosma arhinia microphthalmia syndrome|BAMS|arhinia, choanal atresia, and microphthalmia|arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|BOSMA arhinia microphthalmia syndrome Orphanet:1135|OMIM:603457|MESH:C537429|Orphanet:2250|SCTID:720511000 owl:Class OBO:CHR_9606-chr3q13 biolink:NamedThing 3q13 (Human) tmpte7i6ely_mondo_relaxed.owl 122200000 103100000 hg38 owl:Class MONDO:0045042 biolink:NamedThing restricted to specific location tmpte7i6ely_mondo_relaxed.owl localized owl:Class NCIT:C12664 biolink:NamedThing Abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014830 biolink:NamedThing platelet-type bleeding disorder 20 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene. tmpte7i6ely_mondo_relaxed.owl bleeding disorder, platelet-type, 20|SLFN14 inherited bleeding disorder, platelet-type|autosomal dominant thrombocytopenia with platelet secretion defect|BDPLT20|inherited bleeding disorder, platelet-type caused by mutation in SLFN14 UMLS:C4310797|Orphanet:466806|OMIM:616913|DOID:0111055 owl:Class MONDO:0006869 biolink:NamedThing nodular goiter Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. tmpte7i6ely_mondo_relaxed.owl goiter, nodular|nodular goiter|nodular goitre|nodular goiter (disease) nodular goiter (disease) NCIT:C131437|SCTID:237570007|DOID:13197|MESH:D006044|UMLS:C0018023|HP:0005994|SCTID:419153005|MedDRA:10018495|EFO:1001062 owl:Class CL:0002074 biolink:NamedThing myocardial endocrine cell The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides). tmpte7i6ely_mondo_relaxed.owl FMA:67111 tmeehan 2010-06-29T11:50:47Z cell owl:Class GO:2000845 biolink:NamedThing positive regulation of testosterone secretion Any process that activates or increases the frequency, rate or extent of testosterone secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017223 biolink:NamedThing Pelizaeus-Merzbacher disease, transitional form The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. tmpte7i6ely_mondo_relaxed.owl transitional PMD ICD10:E75.2|Orphanet:280224 owl:Class MONDO:0007980 biolink:NamedThing metachromasia of fibroblasts tmpte7i6ely_mondo_relaxed.owl metachromasia of fibroblasts OMIM:156300 owl:Class NCBITaxon:5653 biolink:NamedThing Kinetoplastea tmpte7i6ely_mondo_relaxed.owl kinetoplastids|Protomonadida|Kinetoplastida|kinetoplasts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044723 biolink:NamedThing 3-methylglutaconic aciduria type 8 tmpte7i6ely_mondo_relaxed.owl MGA8|MGCA8|3-methylglutaconic aciduria, type VIII; MGCA8|3-Methylglutaconic aciduria, type 8|3-methylglutaconic aciduria type VIII, MGCA8|3-methylglutaconic aciduria, type VIII|3-methylglutaconic aciduria type VIII OMIM:617248|UMLS:C4310650|DOID:0070000|Orphanet:505208 owl:Class MONDO:0006300 biolink:NamedThing medullomyoblastoma with myogenic differentiation A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma. tmpte7i6ely_mondo_relaxed.owl MMB|medullomyoblastoma|medullomyoblastoma with myogenic differentiation UMLS:C0205833|ICDO:9472/3|DOID:3861|MESH:D008527|NCIT:C3706|EFO:1000368|ONCOTREE:MMB owl:Class MONDO:0002104 biolink:NamedThing conversion disorder Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve. tmpte7i6ely_mondo_relaxed.owl functional movement disorder|hysterical neurosis, conversion type|conversion hysterical neurosis|functional neurological disorder|FND|conversion hysteria or reaction ICD10:F44|GARD:0006191|ICD9:300.11|MESH:D003291|DOID:1768 https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder owl:Class MONDO:0010734 biolink:NamedThing spatial visualization, aptitude for tmpte7i6ely_mondo_relaxed.owl spatial visualization, aptitude for|visuospatial/perceptual abilities|Turner syndrome-associated Neurocognitive phenotype OMIM:313000|UMLS:C1839262|MESH:C564058 owl:Class MONDO:0010761 biolink:NamedThing retinitis pigmentosa Y-linked Y-linked form of retinitis pigmentosa. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa, Y-linked|Y-linked retinitis pigmentosa|RPY MESH:C564035|Orphanet:791|UMLS:C1839079|OMIM:400004|DOID:0110418|ICD10:H35.5 owl:Class UBERON:0005665 biolink:NamedThing 3rd arch endoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006596 biolink:NamedThing photoallergic dermatitis A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. tmpte7i6ely_mondo_relaxed.owl photoallergic contact dermatitis|photoallergic eczema UMLS:C0162824|SCTID:111209006|ICD9:692.72|MESH:D017454|DOID:3818|Wikipedia:Photodermatitis|EFO:1000751 owl:Class MONDO:0016800 biolink:NamedThing mitochondrial membrane transport disorder tmpte7i6ely_mondo_relaxed.owl Orphanet:254827|UMLS:CN227001 owl:Class MONDO:0001338 biolink:NamedThing acute apical periodontitis tmpte7i6ely_mondo_relaxed.owl acute apical periodontitis of pulpal origin DOID:11693|ICD9:522.4|ICD10:K04.4|SCTID:718053009|UMLS:C4084770 owl:Class HGNC:1232 biolink:NamedThing EGLN1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17366 biolink:NamedThing AASS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009921 biolink:NamedThing holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. tmpte7i6ely_mondo_relaxed.owl pseudo trisomy 13 syndrome|PSEUDOTRISOMY 13 syndrome|holoprosencephaly-polydactyly syndrome|holoprosencephaly polydactyly syndrome|Young-Maders syndrome|pseudo-trisomy 13 syndrome SCTID:716091000|NCIT:C125418|GARD:0000344|MESH:C535829|UMLS:C1849649|OMIM:264480|ICD10:Q87.8|Orphanet:2166 owl:Class MONDO:0017074 biolink:NamedThing cervicothoracic spina bifida cystica tmpte7i6ely_mondo_relaxed.owl Orphanet:268766 owl:Class MONDO:0016385 biolink:NamedThing hypogonadism-mitral valve prolapse-intellectual disability syndrome This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. tmpte7i6ely_mondo_relaxed.owl Cantalamessa-Baldini-Ambrosi syndrome|primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa Baldini Ambrosi syndrome|primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability SCTID:721841001|Orphanet:2233|UMLS:C2931685|ICD10:Q87.8|MESH:C537981|GARD:0001078 owl:Class MONDO:0032826 biolink:NamedThing nephrotic syndrome, type 21 tmpte7i6ely_mondo_relaxed.owl NPHS21|NEPHROTIC SYNDROME, TYPE 21 OMIM:618594 owl:Class MONDO:0014313 biolink:NamedThing autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity tmpte7i6ely_mondo_relaxed.owl IMD20|immunodeficiency type 20|autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|CD16 deficiency|immunodeficiency 20 Orphanet:437552|OMIM:615707|UMLS:C3810342|ICD10:D84.8 owl:Class HP:0011014 biolink:NamedThing Abnormal glucose homeostasis Abnormality of glucose homeostasis. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023598 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. peter 2011-02-21T10:37:21Z human_phenotype owl:Class MONDO:0009422 biolink:NamedThing hypohidrosis with abnormal palmar dermal Ridges tmpte7i6ely_mondo_relaxed.owl hypohidrosis with abnormal palmar dermal Ridges|sweat gland hypoplasia UMLS:C1855856|OMIM:241120|MESH:C565481 owl:Class MONDO:0005642 biolink:NamedThing atopic conjunctivitis Conjunctivitis due to hypersensitivity to various allergens. tmpte7i6ely_mondo_relaxed.owl allergic conjunctivitis|allergic conjunctivitis (disease)|Atopic conjunctivitis|allergic form of conjunctivitis (disease) SCTID:473460002|HP:0007879|ICD9:372.14|NCIT:C34506|EFO:0007141|DOID:11204|UMLS:C0009766 owl:Class MONDO:0005804 biolink:NamedThing hyperprolactinemia Abnormally high level of prolactin in the blood. tmpte7i6ely_mondo_relaxed.owl prolactin, inappropriate secretion|secretion prolactin, inappropriate|inappropriate prolactin secretion|hyperprolactinemia (disease)|hyperprolactinemia|prolactin secretion, inappropriate|inappropriate secretion prolactin|hypersecretion syndrome, prolactin|hyperprolactinaemia|inappropriate prolactin secretion syndrome|hyperprolactinemias|prolactin hypersecretion syndrome|secretion, inappropriate prolactin|syndrome, prolactin hypersecretion hyperprolactinemia (disease) EFO:0007319|MESH:D002640|UMLS:C0020514|SCTID:237662005|NCIT:C113168|MESH:D006966|ICD9:253.1|HP:0000870|ICD10:E22.1 owl:Class HGNC:7551 biolink:NamedThing MYBPC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007984 biolink:NamedThing metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly|metaphyseal dysplasia maxillary hypoplasia brachydactyly|MDMHB OMIM:156510|ICD10:Q77.8|Orphanet:2504|GARD:0003568|UMLS:CN201864|DOID:0111513 https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly owl:Class CL:2000062 biolink:NamedThing placental villus capillary endothelial cell Any capillary endothelial cell that is part of a placenta. tmpte7i6ely_mondo_relaxed.owl http://www.ncbi.nlm.nih.gov/books/NBK53245/ TermGenie 2014-10-07T17:55:56Z cell owl:Class CL:0002144 biolink:NamedThing capillary endothelial cell An endothelial cell found in capillaries. tmpte7i6ely_mondo_relaxed.owl FMA:67756|BTO:0004956|CALOHA:TS-0112 tmeehan 2010-08-24T10:15:00Z cell owl:Class ECTO:9000049 biolink:NamedThing exposure to carbon dioxide An exposure to carbon dioxide. tmpte7i6ely_mondo_relaxed.owl exposure to carbon dioxide owl:Class MONDO:0016316 biolink:NamedThing mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidosis type 2, attenuated form|Hunter syndrome type B|iduronate 2-sulfatase deficiency type B|mucopolysaccharidosis type 2B|mucopolysaccharidosis type IIB|mucopolysaccharidosis type II, attenuated form|MPS2B|MPSIIB UMLS:CN201132|ICD10:E76.1|Orphanet:217093 owl:Class MONDO:0022714 biolink:NamedThing chester porphyria Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic. tmpte7i6ely_mondo_relaxed.owl PORC|porphyria, Chester type GARD:0010185 https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria owl:Class MONDO:0016200 biolink:NamedThing qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type - Orphanet:209203 owl:Class MONDO:0009569 biolink:NamedThing Hennekam-Beemer syndrome Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive. tmpte7i6ely_mondo_relaxed.owl mastocytosis cutaneous with short stature conductive hearing loss and microtia|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability|mastocytosis-short stature-hearing loss syndrome|cutaneous mastocytosis, conductive hearing loss and microtia|Hennekam Beemer syndrome UMLS:CN201032|GARD:0003409|SCTID:722453009|MESH:C536033|OMIM:248910|ICD10:Q82.2|Orphanet:2135 https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia owl:Class CHEBI:57586 biolink:NamedThing biotinate Conjugate base of biotin arising from deprotonation of the carboxy group. tmpte7i6ely_mondo_relaxed.owl 5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoate|biotin|biotin anion owl:Class OGMS:0000063 biolink:NamedThing disease course The totality of all processes through which a given disease instance is realized. tmpte7i6ely_mondo_relaxed.owl creation date: 2009-06-23T11:55:44Z http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf Albert Goldfain owl:Class MONDO:0032612 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 7 tmpte7i6ely_mondo_relaxed.owl MC1DN7|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 OMIM:618229 owl:Class HP:0033796 biolink:NamedThing Abnormal leukocyte physiology A functional abnormality of a white blood cell. tmpte7i6ely_mondo_relaxed.owl 2021-05-08 13:50:44+00:00 peter human_phenotype owl:Class UBERON:0009551 biolink:NamedThing distal segment of digit tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007440 biolink:NamedThing major affective disorder 1 tmpte7i6ely_mondo_relaxed.owl manic-depressive psychosis|manic-depressive psychosis, autosomal|MAJOR affective disorder 1|bipolar affective disorder|MAFD1|major affective disorder 1 OMIM:125480|DOID:0080220 owl:Class MONDO:0000921 biolink:NamedThing ampulla of vater neoplasm A benign or malignant neoplasm involving the ampulla of Vater. tmpte7i6ely_mondo_relaxed.owl ampulla of Vater tumor|AMPULLAOFVATER|neoplasm of hepatopancreatic ampulla|tumor of the ampulla of Vater|tumor of hepatopancreatic ampulla|hepatopancreatic ampulla neoplasm|hepatopancreatic ampulla tumor|neoplasm of ampulla of Vater|hepatopancreatic ampulla neoplasm (disease)|neoplasm of the ampulla of Vater|tumor of ampulla of Vater NCIT:C4443|SCTID:126858004|ONCOTREE:AMPULLAOFVATER|DOID:10022|UMLS:C0345916 owl:Class HGNC:392 biolink:NamedThing AKT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019441 biolink:NamedThing ATTRV122I amyloidosis Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. tmpte7i6ely_mondo_relaxed.owl ATTR cardiomyopathy|TTR-related amyloid cardiomyopathy|ATTRV122I-related amyloidosis|transthyretin amyloid cardiopathy|TTR-related cardiac amyloidosis|transthyretin-related familial amyloid cardiomyopathy ICD10:I43.1*|SCTID:715655000|Orphanet:85451|ICD10:E85.4+|OMIM:105210 owl:Class MONDO:0045037 biolink:NamedThing hyalohyphomycosis An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host. tmpte7i6ely_mondo_relaxed.owl hyalohyphomycosis SCTID:240773008|MESH:D060605|UMLS:C0343952 owl:Class CHEBI:36132 biolink:NamedThing alicyclic ketone A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. tmpte7i6ely_mondo_relaxed.owl alicyclic ketone|alicyclic ketones owl:Class MONDO:0018058 biolink:NamedThing tracheal agenesis Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. tmpte7i6ely_mondo_relaxed.owl congenital absence of trachea|congenital tracheal agenesis|tracheal absence GARD:0005233|Orphanet:3346|MESH:C536975|UMLS:C1261567|SCTID:3987009|ICD10:Q32.1|NCIT:C35376 https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis owl:Class MONDO:0017202 biolink:NamedThing acute endophthalmitis Acute form of endophthalmitis. tmpte7i6ely_mondo_relaxed.owl endophthalmitis, acute Orphanet:279888|ICD10:H44.1|MedDRA:10000730|ICD10:H44.0|UMLS:C0154773|DOID:11752|ICD9:360.01|SCTID:1493002 owl:Class MONDO:0011602 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 27 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 27|autosomal recessive deafness 27|DFNB27|autosomal recessive nonsyndromic deafness type 27|deafness, autosomal recessive 27 DOID:0110485|UMLS:C1853941|Orphanet:90636|ICD10:H90.3|OMIM:605818|MESH:C565287 owl:Class MONDO:0017947 biolink:NamedThing ABeta amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. tmpte7i6ely_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related, Italian variant|HCHWA, Italian type|ABetaE22K amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Italian type ICD10:I68.0*|Orphanet:324713|OMIM:605714|ICD10:E85.4+ owl:Class CL:0002031 biolink:NamedThing hematopoietic lineage restricted progenitor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-01-06T03:43:20Z cell owl:Class HGNC:20093 biolink:NamedThing ADSS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003538 biolink:NamedThing precursor lymphoblastic lymphoma/leukemia A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003 tmpte7i6ely_mondo_relaxed.owl precursor lymphoblastic lymphoma/leukemia|precursor lymphoblastic leukemia/lymphoma|precursor lymphoid neoplasm NCIT:C7055|EFO:0009119|UMLS:C1335469|DOID:5600 owl:Class MONDO:0030801 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome 2 tmpte7i6ely_mondo_relaxed.owl monosomy 7 myelodysplasia and leukemia syndrome 2|M7MLS2 OMIM:619041 owl:Class MONDO:0031178 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:252270 owl:Class MONDO:0043230 biolink:NamedThing ciguatera fish poisoning Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. tmpte7i6ely_mondo_relaxed.owl toxic effect of ciguatera fish poisoning|ciguatera|poisoning, ciguatera|ciguatera fish poisoning|ciguatera Poisonings|poisoning, ciguatera fish|ciguatoxin causing toxic effect|Poisonings, ciguatera fish|ciguatera fish Poisonings|ciguatera poisoning|Poisonings, ciguatera SCTID:241774007|GARD:0006113|MESH:D036841 owl:Class MONDO:0001491 biolink:NamedThing cough variant asthma An asthma that is characterized by chronic nonproductive cough without shortness of breath. tmpte7i6ely_mondo_relaxed.owl SCTID:409663006|UMLS:C0694548|ICD10:J45.991|DOID:12323|ICD9:493.82 owl:Class GO:0009416 biolink:NamedThing response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009240 biolink:NamedThing formiminoglutamic aciduria Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. tmpte7i6ely_mondo_relaxed.owl formiminotransferase cyclodeaminase deficiency|glutamate formiminotransferase deficiency|formiminotransferase deficiency syndrome|Formiminoglutamicaciduria (FIGLU-Uria)|formiminotransferase deficiency|Arakawa syndrome 1|formiminoglutamic aciduria|FTCD deficiency|Figlu-Uria|formiminoglutamic acidemia DOID:0111679|ICD9:270.8|Orphanet:51208|GARD:0009279|OMIM:229100|SCTID:59761008|UMLS:C0268609|ICD10:E70.8|MESH:C537425 owl:Class MONDO:0010275 biolink:NamedThing spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. tmpte7i6ely_mondo_relaxed.owl SEMD, X-linked, with mental deterioration|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia|spondyloepimetaphyseal dysplasia x-linked with mental deterioration|LKMCD|SEMD X-linked with mental deterioration OMIM:300232|ICD10:G11.4|UMLS:C1846148|MESH:C567065|Orphanet:168448|MESH:C536671|ICD10:Q77.7|GARD:0004891 owl:Class GO:0015669 biolink:NamedThing gas transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033014 biolink:NamedThing erythrokeratodermia variabilis et progressiva 4 tmpte7i6ely_mondo_relaxed.owl EKVP4|erythrokeratodermia variabilis et progressiva 4|erythrokeratodermia variabilis ET progressiva 4 OMIM:617526|UMLS:C4479620|DOID:0080250|Orphanet:317 owl:Class MONDO:0017550 biolink:NamedThing humero-radial synostosis, unilateral tmpte7i6ely_mondo_relaxed.owl humero-radial fusion, unilateral ICD10:Q74.0|Orphanet:295209 owl:Class MONDO:0022963 biolink:NamedThing desmoplastic infantile astrocytoma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl Desmoplastic astrocytoma of infancy|DIA|Desmoplastic infantile astrocytoma NCIT:C9476|ONCOTREE:DIA|UMLS:C0457179|ICDO:9412/1|GARD:0009617 https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma owl:Class MONDO:0100305 biolink:NamedThing bile acid CoA:amino acid N-acyltransferase deficiency Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene. tmpte7i6ely_mondo_relaxed.owl bile acid CoA:amino acid N-acyltransferase deficiency|BAAT deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100304 biolink:NamedThing disorder of bile acid aminotransferase Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase. tmpte7i6ely_mondo_relaxed.owl disorder of bile acid aminotransferase http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0005488 biolink:NamedThing adolescent idiopathic scoliosis A scoliosis with no known cause arising in adolescent. tmpte7i6ely_mondo_relaxed.owl Orphanet:3153|EFO:0005423|SCTID:203646004 owl:Class MONDO:0010286 biolink:NamedThing syndromic X-linked intellectual disability Siderius type tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic, Siderius type|Siderius X-linked intellectual disability syndrome|X-linked intellectual disability Hamel type|mental retardation, X-linked, syndromic, Siderius type|intellectual disability syndrome, X-linked, Siderius type|Siderius-Hamel syndrome|syndromic X-linked intellectual disability Siderius type|mental retardation X-linked Siderius type|Siderius Hamel syndrome|MRXSSD|X-linked intellectual disability, Siderius type|intellectual disability X-linked Siderius type|Siderius X-linked mental retardation syndrome|mental retardation syndrome, X-linked, Siderius type|X-linked mental retardation Hamel type|intellectual deficit X-linked Siderius type ICD10:Q87.8|UMLS:C1846055|Orphanet:85287|DOID:0060812|MESH:C537333|GARD:0009704|OMIM:300263 owl:Class CHEBI:68452 biolink:NamedThing azole Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen. tmpte7i6ely_mondo_relaxed.owl azoles owl:Class CHEBI:38179 biolink:NamedThing monocyclic heteroarene tmpte7i6ely_mondo_relaxed.owl monocyclic heteroarenes owl:Class MONDO:0015256 biolink:NamedThing blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Rodini-Richieri Costa syndrome Orphanet:1258 owl:Class MONDO:0015402 biolink:NamedThing mandibular arteriovenous malformation Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock. tmpte7i6ely_mondo_relaxed.owl arteriovenous malformation of mandible ICD10:Q27.3|SCTID:703334000|Orphanet:141174 owl:Class MONDO:0010033 biolink:NamedThing generalized peeling skin syndrome Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. tmpte7i6ely_mondo_relaxed.owl generalized deciduous skin|peeling skin syndrome 1|generalized PSS|peeling skin syndrome type 1|PSS1 OMIM:616265|UMLS:C4305156|OMIM:270300|GARD:0012862|UMLS:CN202304|ICD10:Q80.8|Orphanet:263543|SCTID:718749004|Orphanet:263553 owl:Class UBERON:0006615 biolink:NamedThing venous sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013046 biolink:NamedThing glycogen storage disease due to muscle beta-enolase deficiency Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. tmpte7i6ely_mondo_relaxed.owl enolase 3 deficiency|muscle enolase deficiency|glycogen storage disease 13|glycogen storage disease XIII|glycogen storage disease due to muscle beta-enolase deficiency|GSDXIII|enolase-Beta deficiency|GSD13|glycogenosis type 13|glycogen storage disease type 13|muscular enolase deficiency|GSD due to muscle beta-enolase deficiency|glycogenosis due to muscle beta-enolase deficiency|GSD 13 OMIM:612932|UMLS:C2752027|ICD10:E74.0|MESH:C567861|GARD:0002125|Orphanet:99849 owl:Class MONDO:0021339 biolink:NamedThing carcinoma of hard palate A carcinoma that involves the hard palate. tmpte7i6ely_mondo_relaxed.owl carcinoma of the hard palate|hard palate carcinoma|carcinoma of hard palate NCIT:C8394|SCTID:254434008|UMLS:C0345550 owl:Class MONDO:0002526 biolink:NamedThing dermal unilateral segmental cavernous angioma tmpte7i6ely_mondo_relaxed.owl unilateral segmental cavernous hemangioma of the skin|unilateral segmental cavernous hemangioma DOID:3148|UMLS:C0474966 owl:Class MONDO:0016814 biolink:NamedThing maternally-inherited Leigh syndrome Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. tmpte7i6ely_mondo_relaxed.owl Subacute necrotizing encephalomyelopathy maternally inherited|mitochondrial DNA-associated Leigh syndrome|maternally inherited Leigh syndrome|maternally-inherited infantile subacute necrotizing encephalopathy|maternally-inherited Leigh disease|MILS|Leigh disease, maternally inherited MESH:C536035|ICD10:G31.8|Orphanet:255210|GARD:0003671|SCTID:717052002|OMIM:256000 owl:Class HGNC:25302 biolink:NamedThing COQ9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015100 biolink:NamedThing aregenerative anemia tmpte7i6ely_mondo_relaxed.owl Orphanet:101096|UMLS:C0002893|ICD10:D46.7|SCTID:89112009|UMLS:C0553669|MedDRA:10054329 owl:Class MONDO:0017766 biolink:NamedThing disorder of manganese transport tmpte7i6ely_mondo_relaxed.owl UMLS:CN227208|Orphanet:309851|ICD10:E83.8 owl:Class MONDO:0018262 biolink:NamedThing fetal anticonvulsant syndrome tmpte7i6ely_mondo_relaxed.owl FACS|fetal antiepileptic drug syndrome|fetal AEDS ICD10:Q86.8|UMLS:C1739111|Orphanet:370068 owl:Class UBERON:0003447 biolink:NamedThing digit nerve of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012434 biolink:NamedThing arrhythmogenic right ventricular dysplasia 10 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. tmpte7i6ely_mondo_relaxed.owl familial arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular dysplasia, familial, 10|arrhythmogenic right ventricular dysplasia 10|ARVC10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|DSG2 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia type 10|arrhythmogenic right ventricular cardiomyopathy 10|arrhythmogenic right ventricular dysplasia, familial, type 10|ARVD10 UMLS:C1857777|OMIM:610193|Orphanet:217656|ICD10:I42.8|MESH:C565707|DOID:0110081 owl:Class MONDO:0011270 biolink:NamedThing prostate cancer, hereditary, 8 tmpte7i6ely_mondo_relaxed.owl predisposing for prostate cancer|HPC8|prostate cancer, hereditary, 8|prostate cancer, hereditary, type 8 MESH:C566426|OMIM:602759|UMLS:C1864472 owl:Class MONDO:0018128 biolink:NamedThing phalangeal microgeodic syndrome Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. tmpte7i6ely_mondo_relaxed.owl phalangeal osteolysis ICD10:M89.5|UMLS:CN204506|Orphanet:352636 owl:Class MONDO:0013490 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2A tmpte7i6ely_mondo_relaxed.owl MLC2A|megalencephalic leukoencephalopathy with subcortical cysts type 2A|megalencephalic leukoencephalopathy with subcortical cysts 2A UMLS:C3151355|DOID:0080318|OMIM:613925|Orphanet:2478 owl:Class GO:0005230 biolink:NamedThing extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032900 biolink:NamedThing neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements tmpte7i6ely_mondo_relaxed.owl NEDHAHM|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS OMIM:618760 owl:Class MONDO:0034143 biolink:NamedThing early-onset calcifying leukoencephalopathy-skeletal dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:556985 owl:Class MONDO:0011118 biolink:NamedThing bilineal acute myeloid leukemia An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003 tmpte7i6ely_mondo_relaxed.owl acute bilineal leukemia|bilineal acute leukemia ICD10:C95.0|UMLS:C0349680|Orphanet:98836|NCIT:C6923 owl:Class MONDO:0018708 biolink:NamedThing squamous cell carcinoma of the oral tongue tmpte7i6ely_mondo_relaxed.owl OTSCC|oral tongue squamous cell carcinoma ICD10:C02.0|ICD10:C02.2|UMLS:CN242132|ICD10:C02.8|ICD10:C02.4|Orphanet:457252|ICD10:C02.3|ICD10:C02.1 owl:Class MONDO:0019475 biolink:NamedThing subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. tmpte7i6ely_mondo_relaxed.owl subcutaneous panniculitic T-cell lymphoma|SPTCL|T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE|subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|subcutaneous panniculitis-like T-cell lymphoma MESH:C537503|Orphanet:86884|GARD:0010193|EFO:1000552|SCTID:404133000|ONCOTREE:SPTCL|ICD9:202.70|NCIT:C6918|ICDO:9708/3|OMIM:618398|UMLS:C0522624|ICD10:C83.6|ICD10:C86.3 owl:Class MONDO:0006738 biolink:NamedThing eccrine acrospiroma A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors. tmpte7i6ely_mondo_relaxed.owl eccrine poroma|eccrine acrospiroma|nodular Hidradrenoma|Hidradenomas, solid-cystic|solid-cystic Hidradenomas|Hidradrenoma, clear-cell|poroma (acrospiroma)|clear cell Hidradrenoma|nodular Hidradrenomas|poroma/acrospiroma|Hidradrenomas, nodular|acrospiroma, eccrine|Hidradrenoma, nodular|eccrine Acrospiromas|eccrine hidradenoma|acrospiromas|poroma|solid-cystic hidradenoma|hidradenoma, solid-cystic|hidradenoma|solid cystic hidradenoma|Hidradenomas|clear-cell Hidradrenomas|Hidradrenomas, clear-cell|eccrine hidradenoma of skin|acrospiromas, eccrine|clear-cell Hidradrenoma NCIT:C27273|SCTID:400099008|EFO:1000912|DOID:5442|MESH:D018250|ONCOTREE:PORO|GARD:0005726 owl:Class MONDO:0012801 biolink:NamedThing autism, susceptibility to, 15 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 15|AUTS15|susceptibility to autism 15|autism, susceptibility to, type 15 OMIM:612100 owl:Class MONDO:0007990 biolink:NamedThing multiple benign circumferential skin creases on limbs tmpte7i6ely_mondo_relaxed.owl Michelin tire baby syndrome|CCSF|Kunze-Riehm syndrome|circumferential skin creases, Kunze type|Kunze Riehm syndrome|congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|CSCSC OMIM:616734|OMIM:156610|ICD10:Q82.8|MESH:C537575|Orphanet:2505|UMLS:C0473586|GARD:0003589 owl:Class UBERON:0012416 biolink:NamedThing respiratory system arterial smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007598 biolink:NamedThing factors VIII, IX and XI, combined deficiency of tmpte7i6ely_mondo_relaxed.owl factors VIII, 9 and Xi, combined deficiency of|familial multiple coagulation Factor deficiency 5|multiple coagulation Factor deficiency 5|factors VIII, IX and XI, combined deficiency of OMIM:134520|UMLS:C1851375|MESH:C565023 owl:Class MONDO:0030941 biolink:NamedThing erythrokeratodermia variabilis et progressiva 7 tmpte7i6ely_mondo_relaxed.owl EKVP7|erythrokeratodermia variabilis et progressiva 7 OMIM:619209 owl:Class MONDO:0024356 biolink:NamedThing primary central sleep apnea syndrome tmpte7i6ely_mondo_relaxed.owl primary central sleep apnea ICD10:G47.31|ICD9:327.21|SCTID:9741000119101|UMLS:C0751762 owl:Class MONDO:0012115 biolink:NamedThing scoliosis, isolated, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl scoliosis, isolated, susceptibility to, 3|IS3 OMIM:608765 owl:Class NCBITaxon:50557 biolink:NamedThing Insecta tmpte7i6ely_mondo_relaxed.owl true insects|insects GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6960 biolink:NamedThing Hexapoda tmpte7i6ely_mondo_relaxed.owl insects|hexapods|Tracheata|Atelocerata|Uniramia GC_ID:1 ncbi_taxonomy owl:Class HGNC:10939 biolink:NamedThing SLC1A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043349 biolink:NamedThing intravascular papillary endothelial hyperplasia A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present. tmpte7i6ely_mondo_relaxed.owl intravascular papillary endothelial hyperplasia|masson's pseudosarcoma|Masson pseudotumor|Masson lesion|Masson's pseudosarcoma|Masson's pseudoangiosarcoma|Masson's tumor|Masson's vegetant hemangioma|Masson's pseudotumor|papillary endothelial hyperplasia|Masson's vegetant intravascular hemangio-endothelioma SCTID:238770007|GARD:0010733|UMLS:C0343083|NCIT:C4391 owl:Class MONDO:0018628 biolink:NamedThing HIV-associated cancer tmpte7i6ely_mondo_relaxed.owl HIV-related cancer UMLS:CN237671|Orphanet:443291 owl:Class MONDO:0003280 biolink:NamedThing swayback Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed) tmpte7i6ely_mondo_relaxed.owl swayback of sheep MESH:D013540|SCTID:61960001|DOID:5112 owl:Class MONDO:0020543 biolink:NamedThing theca steroid-producing cell malignant tumor of ovary, not further specified Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. tmpte7i6ely_mondo_relaxed.owl theca (steroid-producing) cell cancer, not further specified UMLS:CN207444|Orphanet:99917|ICD10:C56 Editor note: TODO owl:Class HGNC:19189 biolink:NamedThing DOCK6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005145 biolink:NamedThing sporadic amyotrophic lateral sclerosis Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. tmpte7i6ely_mondo_relaxed.owl OMIM:105400|OMIM:608030|EFO:0001357 owl:Class HGNC:649 biolink:NamedThing ARCN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001864 biolink:NamedThing residual stage angle-closure glaucoma tmpte7i6ely_mondo_relaxed.owl residual stage of angle-closure glaucoma DOID:1404|SCTID:55129006|ICD10:H40.24|UMLS:C0154948|ICD9:365.24 owl:Class MONDO:0001868 biolink:NamedThing primary angle-closure glaucoma An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. tmpte7i6ely_mondo_relaxed.owl primary angle closure glaucoma ICD10:H40.20|ICD10:H40.2|DOID:1405|ICD9:365.20|SCTID:392288006|NCIT:C34640|ICD9:365.2|EFO:1001506|UMLS:C0017605|UMLS:C0017606 owl:Class MONDO:0008815 biolink:NamedThing argininosuccinic aciduria Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. tmpte7i6ely_mondo_relaxed.owl deficiency of argininosuccinate lyase|argininosuccinatelyase deficiency|argininosuccinic aciduria|argininosuccinic acidemia|arginino succinase deficiency|argininosuccinase deficiency|argininosuccinic acid lyase deficiency|ASA deficiency|argininosuccinate acidemia|urea cycle disorder, arginino succinase type|argininosuccinate lyase deficiency|inborn error of urea synthesis, arginino succinic type|ASL deficiency|argininosuccinicaciduria|arginosuccinase deficiency MedDRA:10058299|OMIM:207900|DOID:14755|UMLS:C0268547|MESH:D056807|Orphanet:23|NCIT:C84569|GARD:0005843|SCTID:41013004|ICD10:E72.2 https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria owl:Class MONDO:0017545 biolink:NamedThing zygodactyly type 4 tmpte7i6ely_mondo_relaxed.owl syndactyly type 1, Castilla type|Zygodactyly, Castilla type|SD1, Castilla type|SD1d|syndactyly type 1d Orphanet:295193|ICD10:Q70.3|UMLS:CN203277 owl:Class CHEBI:26710 biolink:NamedThing sodium chloride An inorganic chloride salt having sodium(1+) as the counterion. tmpte7i6ely_mondo_relaxed.owl cloruro sodico|chlorure de sodium|natrii chloridum|halite|salt|table salt|common salt|sodium chloride|Natriumchlorid|rock salt|NaCl|Kochsalz owl:Class CHEBI:38702 biolink:NamedThing inorganic sodium salt tmpte7i6ely_mondo_relaxed.owl inorganic sodium salts owl:Class CHEBI:33424 biolink:NamedThing sulfur oxoacid derivative tmpte7i6ely_mondo_relaxed.owl sulfur oxoacid derivative|sulfur oxoacid derivatives owl:Class MONDO:0041959 biolink:NamedThing fibrosis of bile duct tmpte7i6ely_mondo_relaxed.owl fibrosis of bile duct|biliary sclerosis|biliary duct fibrosis SCTID:48124008|UMLS:C0520571 owl:Class GO:0010922 biolink:NamedThing positive regulation of phosphatase activity Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033200 biolink:NamedThing hearing loss, autosomal recessive 108 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 108|DFNB108|autosomal recessive nonsyndromic deafness 108 DOID:0080263|OMIM:617654|Orphanet:90636 owl:Class UBERON:0013126 biolink:NamedThing vein of abdomen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019461 biolink:NamedThing B-cell prolymphocytic leukemia A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly. tmpte7i6ely_mondo_relaxed.owl B-PLL|B prolymphocytic leukemia|B-cell prolymphocytic leukemia|BPLL ICD10:C91.3|EFO:1000102|ICDO:9833/3|Orphanet:86852|UMLS:C0475801|ONCOTREE:BPLL|NCIT:C4753|SCTID:277619001|MESH:D054403 owl:Class MONDO:0020600 biolink:NamedThing acute pharyngitis An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. tmpte7i6ely_mondo_relaxed.owl acute pharyngitis|pharyngitis, acute NCIT:C34355|SCTID:363746003 owl:Class UBERON:0001918 biolink:NamedThing endothelium of venule tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001472 biolink:NamedThing vaginal venous plexus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30832 biolink:NamedThing TRAPPC9 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20001 biolink:NamedThing PCSK9 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10936 biolink:NamedThing SLC18A3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005117 biolink:NamedThing metanephric distal convoluted tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004568 biolink:NamedThing paralytic ileus An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. tmpte7i6ely_mondo_relaxed.owl paralytic ileus|paralytic ileus (disease) paralytic ileus (disease) NCIT:C93045|MESH:D007418|DOID:8442|SCTID:55525008|ICD9:560.1|HP:0002590|ICD10:K56.0|UMLS:C0030446 owl:Class HGNC:14637 biolink:NamedThing ABCA12 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901190 biolink:NamedThing regulation of formation of translation initiation ternary complex Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. tmpte7i6ely_mondo_relaxed.owl regulation of translation initiation ternary complex assembly owl:Class MONDO:0001431 biolink:NamedThing toxic or nutritional optic neuropathy A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency. tmpte7i6ely_mondo_relaxed.owl nutritional optic neuropathy SCTID:82108004|UMLS:C0155302|ICD9:377.33|DOID:1209|ICD10:H46.2 owl:Class MONDO:0006273 biolink:NamedThing low grade fibromyxoid sarcoma with giant collagen rosettes A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes. tmpte7i6ely_mondo_relaxed.owl hyalinizing spindle cell tumor with giant Rosettes UMLS:C1708749|NCIT:C45203|EFO:1000329 owl:Class MONDO:0006272 biolink:NamedThing low grade fibromyxoid sarcoma A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein. tmpte7i6ely_mondo_relaxed.owl low grade fibromyxoid sarcoma|low-grade fibromyxoid sarcoma EFO:1000328|ONCOTREE:LGFMS|UMLS:C1275282|SCTID:404088004|ICD9:171.9|NCIT:C45202 owl:Class HGNC:11233 biolink:NamedThing SPAST tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16252 biolink:NamedThing SUN5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009773 biolink:NamedThing odonto-onycho-dermal dysplasia A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia|OODD|odontoonychodermal dysplasia GARD:0004054|ICD10:Q82.4|Orphanet:2721|UMLS:C0796093|MESH:C537742|OMIM:257980|SCTID:403762003 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0032569 biolink:NamedThing isolated growth hormone deficiency, type 5 tmpte7i6ely_mondo_relaxed.owl IGHD5|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V OMIM:618160 owl:Class MONDO:0009308 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-negative tmpte7i6ely_mondo_relaxed.owl Cyba deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|CGD, autosomal recessive cytochrome B-negative|CGD due to deficiency of the Alpha Subunit of cytochrome B MESH:C565533|UMLS:C1856255|Orphanet:379|DOID:0070193|OMIM:233690 owl:Class MONDO:0033654 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 19 tmpte7i6ely_mondo_relaxed.owl MC4DN19 OMIM:619063 owl:Class MONDO:0012877 biolink:NamedThing major affective disorder 8 tmpte7i6ely_mondo_relaxed.owl MAFD8|major affective disorder 8|bipolar affective disorder|MAJOR affective disorder 8 MESH:C567530|OMIM:612357 owl:Class MONDO:0001602 biolink:NamedThing labia minora carcinoma A carcinoma that arises from the labia minora. tmpte7i6ely_mondo_relaxed.owl carcinoma of the labia minora|labia minora cancer|labia minora carcinoma|carcinoma of labium minora|labium minora carcinoma|carcinoma of labia minora UMLS:C1334357|NCIT:C9364|DOID:1293 owl:Class MONDO:0000661 biolink:NamedThing alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. tmpte7i6ely_mondo_relaxed.owl DOID:0060131 owl:Class MONDO:0006677 biolink:NamedThing bile reflux Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas. tmpte7i6ely_mondo_relaxed.owl UMLS:C0005403|DOID:12237|EFO:1000838|MESH:D001655 owl:Class MONDO:0043759 biolink:NamedThing abdominal ectopic pregnancy Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. tmpte7i6ely_mondo_relaxed.owl abdomen ectopic pregnancy|Pregnancies, abdominal|abdominal pregnancy|ectopic pregnancy of abdomen|intra-abdominal pregnancy|abdominal Pregnancies SCTID:82661006|NCIT:C92921|MESH:D011269 owl:Class MONDO:0011815 biolink:NamedThing hypertension, essential, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl hypertension, essential, susceptibility to, type 3|Hyt3|hypertension, essential, susceptibility to, 3 UMLS:C1846430|OMIM:607329 owl:Class MONDO:0005396 biolink:NamedThing thoracic aortic aneurysm An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. tmpte7i6ely_mondo_relaxed.owl EFO:0004282|DOID:14004|OMIM:615436|UMLS:C0162872|MESH:D017545|OMIM:607087|OMIM:607086|OMIM:613780|OMIM:611788|OMIM:132900|NCIT:C27001|SCTID:433068007|Orphanet:91387 owl:Class MONDO:0008933 biolink:NamedThing cephalin lipidosis tmpte7i6ely_mondo_relaxed.owl cephalin lipidosis OMIM:212800|MESH:C565872|UMLS:C1859307 owl:Class MONDO:0100157 biolink:NamedThing Imerslund-Grasbeck syndrome type 2 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). tmpte7i6ely_mondo_relaxed.owl megaloblastic anemia, Norwegian type OMIM:618882 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001215 biolink:NamedThing allescheriosis A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses. tmpte7i6ely_mondo_relaxed.owl Petriellidosis SCTID:80936003|ICD9:117.6|ICD10:B48.2|UMLS:C0153285|DOID:11186 owl:Class MONDO:0015761 biolink:NamedThing trisomy 10p Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. tmpte7i6ely_mondo_relaxed.owl 10p duplication|trisomy type 10p|partial trisomy 10p|10p trisomy|Duplication 10p|chromosome 10p duplication ICD10:Q92.2|UMLS:C4082793|MESH:C538290|SCTID:717157006|Orphanet:171929|GARD:0005299 owl:Class MONDO:0020415 biolink:NamedThing Kommerell diverticulum Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture. tmpte7i6ely_mondo_relaxed.owl SCTID:74561007|Orphanet:99077|ICD10:Q25.4 owl:Class UBERON:0036441 biolink:NamedThing wall of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:15734 biolink:NamedThing primary alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpte7i6ely_mondo_relaxed.owl a primary alcohol|Primary alcohol|primary alcohols|1-Alcohol owl:Class HP:0002226 biolink:NamedThing White eyebrow White color (lack of pigmentation) of the eyebrow. tmpte7i6ely_mondo_relaxed.owl White eyebrow|Depigmented eyebrow|Pale eyebrow|Blonde eyebrow|Grey eyebrow|Hypopigmented eyebrow UMLS:C4280580|UMLS:C1836737|UMLS:C4280579 HP:0002228|HP:0004536 human_phenotype owl:Class UBERON:0003410 biolink:NamedThing oropharyngeal gland tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000031 biolink:NamedThing Epididymitis The presence of inflammation of the epididymis. tmpte7i6ely_mondo_relaxed.owl MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534 human_phenotype owl:Class MONDO:0022749 biolink:NamedThing non-neoplastic nevus A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth. tmpte7i6ely_mondo_relaxed.owl non-neoplastic nevus|Non-neoplastic nevus|Non-Neoplastic Nevus SCTID:195381005|UMLS:C0265027|NCIT:C3937|ICD9:448.1 owl:Class CHEBI:36333 biolink:NamedThing local anaesthetic Any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block. tmpte7i6ely_mondo_relaxed.owl local anaesthetics|local anesthetics|Lokalanaesthetikum|local anaesthetic|anesthesique local owl:Class MONDO:0014399 biolink:NamedThing ataxia-telangiectasia-like disorder 2 tmpte7i6ely_mondo_relaxed.owl ataxia-telangiectasia-like disorder type 2|ataxia-telangiectasia-like disorder 2|PCNA-related progressive neurodegenerative photosensitivity syndrome|ATLD2 Orphanet:438134|UMLS:C4014676|OMIM:615919|ICD10:G11.3 owl:Class HP:0011962 biolink:NamedThing Obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023106 peter 2012-07-16T12:25:35Z human_phenotype owl:Class MONDO:0003826 biolink:NamedThing mediastinum seminoma An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors. tmpte7i6ely_mondo_relaxed.owl mediastinum seminoma|seminoma of mediastinum|mediastinal seminoma|seminoma of the mediastinum DOID:6249|NCIT:C6812|UMLS:C1334680 owl:Class MONDO:0003668 biolink:NamedThing extragonadal seminoma tmpte7i6ely_mondo_relaxed.owl primary extragonadal seminoma|extragonadal primary seminoma|extragonadal seminoma DOID:5838|UMLS:C1333502|NCIT:C7327 owl:Class ENVO:00000194 biolink:NamedThing scree Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders. tmpte7i6ely_mondo_relaxed.owl talus slope|TALUS owl:Class MONDO:0021907 biolink:NamedThing aplasia cutis autosomal recessive Aplasia cutis with autosomal recessive inheritance. tmpte7i6ely_mondo_relaxed.owl GARD:0000749 https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive owl:Class NCBITaxon:72293 biolink:NamedThing Helicobacteraceae tmpte7i6ely_mondo_relaxed.owl Helicobacter group GC_ID:11|PMID:29034857|PMID:16403855 ncbi_taxonomy owl:Class NCBITaxon:213849 biolink:NamedThing Campylobacterales tmpte7i6ely_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012066 biolink:NamedThing atrial fibrillation, familial, 1 tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, autosomal dominant|atrial fibrillation, familial, 1|ATFB1 UMLS:C1843687|MESH:C538261|OMIM:608583|Orphanet:334 owl:Class HP:0000202 biolink:NamedThing Oral cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. tmpte7i6ely_mondo_relaxed.owl Cleft lip, cleft palate|Cleft lip/palate|Oral clefting|Cleft of the mouth UMLS:C0158646|SNOMEDCT_US:253983005|UMLS:C4021813|SNOMEDCT_US:66948001 human_phenotype owl:Class UBERON:0002265 biolink:NamedThing olfactory tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007702 biolink:NamedThing tract of brain tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011531 biolink:NamedThing Noonan syndrome 2 tmpte7i6ely_mondo_relaxed.owl NS2|Noonan syndrome, autosomal recessive|Noonan syndrome 2|Noonan syndrome autosomal recessive|autosomal recessive Noonan syndrome|Noonan syndrome type 2 MESH:C548081|GARD:0010698|DOID:0060580|Orphanet:648|UMLS:C1854469|OMIM:605275 https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2 owl:Class MONDO:0007432 biolink:NamedThing cerebral arteriopathy with subcortical infarcts and leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl Casil|dementia, hereditary multi-infarct type|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|CADASIL|cerebral arteriopathy with subcortical infaracts and leukoencephalopathy OMIMPS:125310|ICD9:323.9|ICD9:447.8|Orphanet:136|DOID:13945 owl:Class HGNC:8896 biolink:NamedThing PGK1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060455 biolink:NamedThing negative regulation of gastric acid secretion Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:7500094 biolink:NamedThing tubercle of calcaneus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004759 biolink:NamedThing bestiality tmpte7i6ely_mondo_relaxed.owl zoophilia DOID:9336|SCTID:81463002|ICD9:302.1 owl:Class NCBITaxon:33511 biolink:NamedThing Deuterostomia tmpte7i6ely_mondo_relaxed.owl deuterostomes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008047 biolink:NamedThing episodic ataxia type 1 Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. tmpte7i6ely_mondo_relaxed.owl continuous muscle fiber activity|KCNA1 hereditary episodic ataxia|myokymia 1|hereditary paroxysmal ataxia with neuromyotonia|episodic ataxia with myokymia|familial paroxysmal kinesigenic ataxia and continuous myokymia|EA1|myokymia 1 with or without hypomagnesemia|continuous muscle fiber activity, hereditary|acetazolamide-responsive periodic ataxia|episodic ataxia, type 1|paroxysmal ataxia with neuromyotonia, hereditary|Isaacs-Mertens syndrome|hereditary episodic ataxia caused by mutation in KCNA1|myokymia with periodic ataxia|ataxia, episodic, with myokymia ICD10:G11.8|UMLS:C1719788|OMIM:160120|DOID:0050989|Orphanet:972|Orphanet:37612|SCTID:421182009|UMLS:CN042654 owl:Class MONDO:0011393 biolink:NamedThing hypoalphalipoproteinemia, primary, 1 Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. tmpte7i6ely_mondo_relaxed.owl high density lipoprotein deficiency|hypoalphalipoproteinemia, familial|HDL cholesterol, Low serum|familial HDL deficiency|FHD|hypoalphalipoproteinemia, primary|HDLD|FHA MESH:D052456|GARD:0002872|OMIM:604091 owl:Class MONDO:0013141 biolink:NamedThing autosomal dominant macrothrombocytopenia TUBB1-related Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene. tmpte7i6ely_mondo_relaxed.owl TUBB1 autosomal dominant macrothrombocytopenia|autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|macrothrombocytopenia, autosomal dominant, TUBB1-related MESH:C567747|OMIM:613112|Orphanet:140957|UMLS:C2751259|DOID:0090102|ICD10:D69.4 owl:Class MONDO:0015372 biolink:NamedThing autosomal dominant macrothrombocytopenia This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets. tmpte7i6ely_mondo_relaxed.owl UMLS:CN199474|OMIM:187800|ICD10:D69.4|OMIM:615193|UMLS:C4304021|OMIM:613112|Orphanet:140957|SCTID:720521008 owl:Class MONDO:0022577 biolink:NamedThing Billet bear syndrome A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. tmpte7i6ely_mondo_relaxed.owl billet-bear syndrome|Lower limb partial duplication renal agenesis GARD:0000892 https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome owl:Class MONDO:0009779 biolink:NamedThing autosomal recessive omodysplasia Autosomal recessive form of omodysplasia. tmpte7i6ely_mondo_relaxed.owl micromelic dysplasia, congenital, with dislocation of radius|omodysplasia, generalized form|OMOD1|omodysplasia autosomal recessive|micromelic dysplasia-dislocation of radius syndrome|omodysplasia type 1|autosomal recessive omodysplasia|omodysplasia, autosomal recessive|omodysplasia 1|micromelic dysplasia congenita with dislocation of radius|omodysplasia generalized form Orphanet:93329|SCTID:725166005|Orphanet:2733|GARD:0004076|ICD10:Q78.8|OMIM:258315|UMLS:C1850318 owl:Class CHEBI:39317 biolink:NamedThing growth regulator Any chemical substance that inhibits the life-cycle of an organism. tmpte7i6ely_mondo_relaxed.owl growth regulators owl:Class MONDO:0018759 biolink:NamedThing childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN776870|Orphanet:466921 owl:Class HGNC:14372 biolink:NamedThing SCYL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042964 biolink:NamedThing Machado-Joseph disease type 4 A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment. tmpte7i6ely_mondo_relaxed.owl azorean disease, type iv ICD9:334.3|SCTID:91956006|UMLS:C0686352 owl:Class MONDO:0008061 biolink:NamedThing nail-patella syndrome A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. tmpte7i6ely_mondo_relaxed.owl hereditary Osteo-onychodysplasia|nail-patella syndrome|Turner-Kieser syndrome|hereditary onychoostedysplasia|Fong disease|osteo-onychodysplasia|NPS|iliac horn syndrome|NPS1|arthro-onychodysplasia|Turner-Kiser syndrome|NPS 1|onychoosteodysplasia|nail patella syndrome UMLS:C0027341|Orphanet:2614|ICD9:759.89|SCTID:22199006|MESH:D009261|GARD:0007160|NCIT:C75120|ICD10:Q87.2|OMIM:161200|DOID:9467|MedDRA:10063431 https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome owl:Class MONDO:0008386 biolink:NamedThing Axenfeld-Rieger syndrome type 1 A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. tmpte7i6ely_mondo_relaxed.owl Rgs|Axenfeld-Rieger syndrome caused by mutation in PITX2|Axenfeld-Rieger syndrome type 1|Rieger syndrome type 1|Rieg|Rieger syndrome, type 1|PITX2 Axenfeld-Rieger syndrome|Axenfeld-Rieger syndrome, type 1|RIEG1 Orphanet:782|ICD10:Q13.8|OMIM:180500|UMLS:C3714873|DOID:0110120|NCIT:C75015 owl:Class GO:0005579 biolink:NamedThing membrane attack complex A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow. tmpte7i6ely_mondo_relaxed.owl membrane attack complex protein alphaM chain|membrane attack complex protein beta2 chain|TCC|MAC|terminal complement complex owl:Class MONDO:0002385 biolink:NamedThing benign cystic nephroma A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. tmpte7i6ely_mondo_relaxed.owl benign multilocular cystic nephroma|cystic nephroma|benign cystic nephroma NCIT:C7504|DOID:2673|ICDO:8959/0|UMLS:C1266138|EFO:1000213 owl:Class MONDO:0016932 biolink:NamedThing partial duplication of chromosome 11 tmpte7i6ely_mondo_relaxed.owl partial trisomy of chromosome 11|partial duplication of chromosome type 11 SCTID:726350006|Orphanet:262653 owl:Class MONDO:0003284 biolink:NamedThing mediastinum leiomyoma A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma of mediastinum|mediastinum leiomyoma|mediastinal leiomyoma|leiomyoma of the mediastinum UMLS:C1334659|DOID:5123|NCIT:C6598 owl:Class HGNC:6371 biolink:NamedThing KLKB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012714 biolink:NamedThing early-onset myopathy with fatal cardiomyopathy tmpte7i6ely_mondo_relaxed.owl SALMY|myopathy, early-onset, with fatal cardiomyopathy|Salih myopathy|EOMFC UMLS:C2673677|ICD10:G71.8|MESH:C567129|OMIM:611705|Orphanet:289377|SCTID:702343002 owl:Class MONDO:0009899 biolink:NamedThing polyhydramnios, chronic idiopathic tmpte7i6ely_mondo_relaxed.owl polyhydramnios, chronic idiopathic|Lactogen receptor defect of chorion UMLS:C1849720|MESH:C564876|OMIM:263610 owl:Class MONDO:0018218 biolink:NamedThing autosomal recessive cerebral atrophy tmpte7i6ely_mondo_relaxed.owl ICD10:G31.8|UMLS:CN204742|Orphanet:363969 owl:Class MONDO:0015210 biolink:NamedThing syndromic gastroduodenal malformation A gastroduodenal malformation that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic gastroduodenal malformation|syndrome associated with gastroduodenal malformation UMLS:CN226627|Orphanet:108965 owl:Class ENVO:01001048 biolink:NamedThing sediment environment An environmental system which has its properties and dynamics determined by sediment. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019852 biolink:NamedThing L-ascorbic acid metabolic process The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. tmpte7i6ely_mondo_relaxed.owl ascorbate metabolism|vitamin C metabolic process|vitamin C metabolism|L-ascorbic acid metabolism|ascorbate metabolic process owl:Class UBERON:0013139 biolink:NamedThing ligament of liver tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010866 biolink:NamedThing Abdominal wall defect An incomplete closure of the abdominal wall. tmpte7i6ely_mondo_relaxed.owl Congenital anterior abdominal wall defect|Abdominal wall defect UMLS:C0238577 peter 2010-08-03T09:55:15Z human_phenotype owl:Class HP:0004298 biolink:NamedThing Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. tmpte7i6ely_mondo_relaxed.owl Abnormality of external features of the abdomen|Abnormality of the abdominal wall UMLS:C4021664 peter 2008-02-20T11:40:00Z HP:0001462 human_phenotype owl:Class MONDO:0005917 biolink:NamedThing placenta disorder A disease involving the placenta. tmpte7i6ely_mondo_relaxed.owl placenta disease|diseases, placental|placenta diseases|disorder of placenta|placental disorder|placenta disorder|disorder, placenta|placental diseases|disorders, placenta|placental disease|disease, placenta|disease or disorder of placenta|placenta disorders|diseases, placenta|disease of placenta|placenta disease or disorder|disease, placental DOID:780|NCIT:C34941|ICD10:O43|MESH:D011248|MESH:D010922|EFO:0007441|NCIT:C35169|ICD9:646.9|ICD9:656.70|SCTID:125586008|GARD:0007402|NCIT:C26857|ICD10:O43.90|SCTID:173300003|ICD10:O43.9 owl:Class MONDO:0004283 biolink:NamedThing vulvar clear cell hidradenocarcinoma A vulvar sweat gland carcinoma characterized by the presence of clear cells. tmpte7i6ely_mondo_relaxed.owl vulvar clear cell hidradenocarcinoma UMLS:C1520076|DOID:7567|NCIT:C40307 owl:Class MONDO:0100156 biolink:NamedThing Imerslund-Grasbeck syndrome type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. tmpte7i6ely_mondo_relaxed.owl MGA-1|megaloblastic anemia, Finnish type|megaloblastic anemia, 1|enterocyte cobalamin malabsorption|MGA1|enterocyte intrinsic factor receptor, defect of|Mga1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|megaloblastic Anemia type 1|Imerslund-Grasbeck syndrome type 1 NCIT:C131677|OMIM:261100 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016798 biolink:NamedThing ataxia neuropathy spectrum tmpte7i6ely_mondo_relaxed.owl Orphanet:254818|UMLS:C3683791 owl:Class MONDO:0009121 biolink:NamedThing von Voss-Cherstvoy syndrome Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. tmpte7i6ely_mondo_relaxed.owl phocomelia thrombocytopenia encephalocele and urogenital malformations|Von Voss Cherstvoy syndrome|von Voss-Cherstvoy syndrome|DK phocomelia syndrome|phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|phocomelia, thrombocytopenia, encephalocele, urogenital malformations GARD:0001894|UMLS:C1857226|ICD10:Q87.8|OMIM:223340|SCTID:719021005|Orphanet:3439|MESH:C565618 owl:Class GO:0035176 biolink:NamedThing social behavior Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. tmpte7i6ely_mondo_relaxed.owl social behaviour|cooperative behavior owl:Class UBERON:0003541 biolink:NamedThing left lung terminal bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011678 biolink:NamedThing homozygous 11P15-p14 deletion syndrome tmpte7i6ely_mondo_relaxed.owl homozygous 11P15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528|UMLS:C1847866|MESH:C564701 owl:Class MONDO:0007860 biolink:NamedThing focal palmoplantar and gingival keratoderma Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. tmpte7i6ely_mondo_relaxed.owl focal palmoplantar and oral mucosa hyperkeratosis|keratosis, focal palmoplantar and gingival|focal palmoplantar and gingival hyperkeratosis syndrome|focal palmoplantar and gingival hyperkeratosis|keratosis focal palmoplantar gingival ICD10:Q82.8|Orphanet:2200|OMIM:148730|UMLS:C1835650|GARD:0003098|SCTID:764963007|MESH:C536157 https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma owl:Class HGNC:6833 biolink:NamedThing MAOA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019124 biolink:NamedThing microscopic polyangiitis Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. tmpte7i6ely_mondo_relaxed.owl MPA|microscopic polyarteritis|Micropolyangiitis NCIT:C70549|UMLS:C2347126|GARD:0003652|Orphanet:727|MedDRA:10063344|EFO:1000784|SCTID:239928004|ICD10:M31.7|MESH:D055953 https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis owl:Class MONDO:0033810 biolink:NamedThing isolated iridoschisis tmpte7i6ely_mondo_relaxed.owl Orphanet:519392 owl:Class HP:0012700 biolink:NamedThing Abnormal large intestine physiology A functional anomaly of the large intestine. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022766 peter 2014-03-22T06:20:38Z human_phenotype owl:Class HP:0025032 biolink:NamedThing Abnormality of digestive system physiology A functional anomaly of the digestive system. tmpte7i6ely_mondo_relaxed.owl 2016-08-27 13:58:05+00:00 HPO:probinson human_phenotype owl:Class MONDO:0009766 biolink:NamedThing oculocerebral hypopigmentation syndrome of Preus tmpte7i6ely_mondo_relaxed.owl oculocerebral hypopigmentation syndrome of Preus|oculocerebral hypopigmentation syndrome type Preus SCTID:716174001|GARD:0004034|UMLS:C2931646|Orphanet:2720|OMIM:257790 owl:Class HGNC:11919 biolink:NamedThing CD40 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007183 biolink:NamedThing azotemia, familial tmpte7i6ely_mondo_relaxed.owl azotemia, familial OMIM:109160|MESH:C566233|UMLS:C1862358 owl:Class MONDO:0006400 biolink:NamedThing salivary gland acinic cell carcinoma A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis. tmpte7i6ely_mondo_relaxed.owl acinic cell tumor of the salivary gland|acinic cell neoplasm of salivary gland|acinic cell carcinoma of salivary gland|acinic cell tumor of salivary gland|salivary gland acinic cell cancer|acinic cell carcinoma of the salivary gland|salivary gland acinic cell tumor|salivary gland acinic cell neoplasm|acinic cell neoplasm of the salivary gland EFO:1000513|NCIT:C8013|UMLS:C0279738 owl:Class MONDO:0011796 biolink:NamedThing epilepsy, partial, with pericentral spikes tmpte7i6ely_mondo_relaxed.owl epilepsy, partial, with pericentral spikes|PEPS|Epps OMIM:607221|MESH:C564605|UMLS:C1846609 owl:Class CHEBI:27314 biolink:NamedThing water-soluble vitamin tmpte7i6ely_mondo_relaxed.owl water-soluble vitamins|wasserloesliche Vitamine owl:Class HGNC:11188 biolink:NamedThing SOS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019314 biolink:NamedThing cutaneous mastocytoma Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. tmpte7i6ely_mondo_relaxed.owl cutaneous local mastocytoma|solitary mastocytoma|multiple mastocytoma Orphanet:79455|GARD:0012687|ICD10:Q82.2 owl:Class GO:0005984 biolink:NamedThing disaccharide metabolic process The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units. tmpte7i6ely_mondo_relaxed.owl disaccharide metabolism owl:Class GO:0042489 biolink:NamedThing negative regulation of odontogenesis of dentin-containing tooth Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. tmpte7i6ely_mondo_relaxed.owl negative regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing teeth|down regulation of odontogenesis|inhibition of odontogenesis|downregulation of odontogenesis|down-regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing tooth owl:Class MONDO:0014180 biolink:NamedThing epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex, autosomal recessive 2|EBSB2|EBS-AR BP230|DST-related epidermolysis bullosa simplex|epidermolysis bullosa simplex due to BP230 deficiency|epidermolysis bullosa simplex, autosomal recessive type 2 ICD10:Q81.0|UMLS:C3809470|OMIM:615425|Orphanet:412181 owl:Class MONDO:0032732 biolink:NamedThing hearing loss, autosomal recessive 113 tmpte7i6ely_mondo_relaxed.owl DFNB113|deafness, autosomal recessive 113 DOID:0111636|OMIM:618410 owl:Class MONDO:0003603 biolink:NamedThing non-functioning pituitary gland neoplasm A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. tmpte7i6ely_mondo_relaxed.owl non-functioning pituitary tumor|non-functioning tumor of the pituitary gland|non-functioning neoplasm of pituitary gland|non-functioning tumor of pituitary|non-functioning pituitary neoplasm|non-functioning pituitary gland neoplasm|Nonfunctioning pituitary tumor|non-functioning neoplasm of pituitary|non-functioning pituitary gland tumor|non-functioning neoplasm of the pituitary|non-functioning endocrine neoplasm of pituitary gland|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|non-functioning tumor of pituitary gland|non-functioning neoplasm of the pituitary gland|pituitary gland non-functioning endocrine neoplasm SCTID:448563005|NCIT:C4009 owl:Class MONDO:0001607 biolink:NamedThing intrapelvic lymph node leukemic reticuloendotheliosis tmpte7i6ely_mondo_relaxed.owl leukemic reticuloendotheliosis involving intrapelvic lymph nodes|leukemic reticuloendotheliosis of intrapelvic lymph nodes ICD9:202.46|SCTID:93145002|DOID:12972|UMLS:C0153831 owl:Class MONDO:0013888 biolink:NamedThing tremor, hereditary essential, 4 Any essential tremor in which the cause of the disease is a mutation in the FUS gene. tmpte7i6ely_mondo_relaxed.owl tremor, hereditary essential, 4|FUS essential tremor|tremor, hereditary essential, type 4|essential tremor caused by mutation in FUS|ETM4 DOID:0111431|OMIM:614782|UMLS:C3539195 owl:Class MONDO:0003542 biolink:NamedThing dental pulp calcification tmpte7i6ely_mondo_relaxed.owl pulp calcifications|pulpal calcifications|pulp calcification SCTID:57602001|ICD10:K04.2|UMLS:C0011401|DOID:5608|MESH:D003784 owl:Class HP:0011314 biolink:NamedThing Abnormality of long bone morphology An abnormality of size or shape of the long bones. tmpte7i6ely_mondo_relaxed.owl Abnormal shape of long bone|Abnormality of the tubular bones UMLS:C4021165 hecht 2012-02-12T02:31:03Z HP:0100713|HP:0100714|HP:0100715 human_phenotype owl:Class UBERON:0014463 biolink:NamedThing cardiac ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014197 biolink:NamedThing combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. tmpte7i6ely_mondo_relaxed.owl IMD12|immunodeficiency 12|immunodeficiency type 12|combined immunodeficiency due to MALT1 deficiency ICD10:D81.8|UMLS:C3809583|OMIM:615468|Orphanet:397964 owl:Class ENVO:00000002 biolink:NamedThing anthropogenic geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. tmpte7i6ely_mondo_relaxed.owl manmade feature|man-made feature owl:Class MONDO:0013661 biolink:NamedThing combined malonic and methylmalonic acidemia Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. tmpte7i6ely_mondo_relaxed.owl combined malonic and methylmalonic aciduria|combined malonic and methylmalonic acidemia|CMAMMA ICD10:E71.1|OMIM:614265|MESH:C580002|GARD:0010818|SCTID:702365002|Orphanet:289504|DOID:0111263|UMLS:C3280314 owl:Class NCBITaxon:83158 biolink:NamedThing Sarcoptoidea tmpte7i6ely_mondo_relaxed.owl Psoroptoidea|Listrophoroidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004543 biolink:NamedThing enteric pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. tmpte7i6ely_mondo_relaxed.owl testicular yolk Sac tumor, enteric pattern NCIT:C39932|UMLS:C1515304|DOID:8362 owl:Class NCBITaxon:5207 biolink:NamedThing Cryptococcus neoformans tmpte7i6ely_mondo_relaxed.owl Lipomyces neoformans|Saccharomyces neoformans|Debaryomyces neoformans|Filobasidiella neoformans|Torula neoformans|Blastomyces neoformans|Torulopsis neoformans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021470 biolink:NamedThing benign neoplasm of pancreas A benign neoplasm that involves the pancreas. tmpte7i6ely_mondo_relaxed.owl benign tumor of the pancreas|pancreatic tumor, benign|benign pancreas neoplasm|pancreatic neoplasm, benign|benign pancreatic tumor|pancreas tumor, benign|benign tumor of pancreas|benign pancreas tumor|benign pancreatic neoplasm|pancreas neoplasm, benign|benign neoplasm of the pancreas|pancreas benign neoplasm NCIT:C4612|UMLS:C0347284|SCTID:92264007|ICD10:D13.6 owl:Class MONDO:0037744 biolink:NamedThing neoplasm of retromolar area tmpte7i6ely_mondo_relaxed.owl tumor of retromolar area|neoplasm of retromolar area UMLS:C0345590|SCTID:126804008 owl:Class MONDO:0006532 biolink:NamedThing cholesteatoma of external ear A cholesteatoma (disease) that involves the external ear. tmpte7i6ely_mondo_relaxed.owl cholesteatoma (disease) of external ear|external canal cholesteatoma|external ear cholesteatoma (disease) UMLS:C0155398|ICD10:H60.40|ICD10:H60.4|SCTID:35247001|EFO:1000677|DOID:9462|ICD9:380.21 owl:Class MONDO:0005809 biolink:NamedThing infectious ectromelia A viral infection of mice, causing edema and necrosis followed by limb loss. tmpte7i6ely_mondo_relaxed.owl MESH:D004482|EFO:0007325|UMLS:C0013591 owl:Class GO:0009713 biolink:NamedThing catechol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. tmpte7i6ely_mondo_relaxed.owl catechol synthesis|catechol anabolism|catechol biosynthesis|catechol biosynthetic process|catechol formation owl:Class CHEBI:38234 biolink:NamedThing DNA polymerase inhibitor Any inhibitor of a DNA polymerase. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030045 biolink:NamedThing Liberfarb syndrome A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. tmpte7i6ely_mondo_relaxed.owl LIBF|Liberfarb syndrome|Spondyloepimetaphyseal Dysplasia, Liberfarb Type|LIBERFARB SYNDROME OMIM:618889 owl:Class UBERON:0005332 biolink:NamedThing mesonephric S-shaped body tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024432 biolink:NamedThing nerve plexus disorder A disease that involves the nerve plexus. tmpte7i6ely_mondo_relaxed.owl nerve plexus disorder|disorder of nerve plexus|disease or disorder of nerve plexus|nerve plexus disease|plexopathy|disease of nerve plexus|nerve plexus disease or disorder DOID:3688|NCIT:C27744|SCTID:2231001|UMLS:C1335437 MONDO:0002733 owl:Class HGNC:2209 biolink:NamedThing COL5A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000745 biolink:NamedThing cardiac arrest Cessation of breathing and/or cardiac function. tmpte7i6ely_mondo_relaxed.owl circulatory arrest|cardiopulmonary arrest MESH:D006323|ICD9:427.5|NCIT:C50483|UMLS:C0018790|NCIT:C50479|SCTID:410429000|UMLS:C0444720|DOID:0060319|ICD10:I46 owl:Class HGNC:385 biolink:NamedThing AKR1C2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002953 biolink:NamedThing skin infiltrative basal cell carcinoma A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues. tmpte7i6ely_mondo_relaxed.owl infiltrative basal cell carcinoma|infiltrating basal cell carcinoma|skin infiltrating basal cell carcinoma UMLS:C0334257|DOID:4299|NCIT:C27539|ICDO:8092/3 owl:Class MONDO:0020327 biolink:NamedThing classic Hodgkin lymphoma, nodular sclerosis type tmpte7i6ely_mondo_relaxed.owl Orphanet:98843|ICD10:C81.1 owl:Class MONDO:0007397 biolink:NamedThing craniometaphyseal dysplasia, autosomal dominant tmpte7i6ely_mondo_relaxed.owl CMD|craniometaphyseal dysplasia, autosomal dominant|CMDJ|CMDD|craniometaphyseal dysplasia Jackson type|craniometaphyseal dysplasia, Jackson type Orphanet:1522|UMLS:C1852502|OMIM:123000|GARD:0001581|MESH:C565145 owl:Class MONDO:0004472 biolink:NamedThing breast columnar cell mucinous carcinoma An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified. tmpte7i6ely_mondo_relaxed.owl breast columnar cell mucinous carcinoma NCIT:C40355|DOID:8130|UMLS:C1511305 owl:Class UBERON:0009767 biolink:NamedThing proximal interphalangeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000469 biolink:NamedThing sinoatrial node disorder A disease involving the sinoatrial node. tmpte7i6ely_mondo_relaxed.owl sinoatrial node disease|disease or disorder of sinoatrial node|SA node|disorder of sinoatrial node|sinoatrial node disease or disorder|sinuatrial node|disease of sinoatrial node DOID:0050824 owl:Class MONDO:0100213 biolink:NamedThing IFAP syndrome with or without BRESHECK syndrome An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome. tmpte7i6ely_mondo_relaxed.owl ichthyosis follicularis-atrichia-photophobia syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|IFAP syndrome with or without BRESHECK syndrome|IFAP syndrome|ichthyosis follicularis atrichia photophobia syndrome|IFAP/BRESHECK syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia Orphanet:2273|MESH:C536085|UMLS:C1839988|Orphanet:85284|GARD:0002952|OMIM:308205 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0042961 biolink:NamedThing sacral hemangiomas multiple congenital abnormalities tmpte7i6ely_mondo_relaxed.owl GARD:0000317|MESH:C537222|UMLS:C2931443 owl:Class HGNC:6882 biolink:NamedThing MAPK8IP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022633 biolink:NamedThing camptodactyly joint contractures and facial skeletal dysplasia tmpte7i6ely_mondo_relaxed.owl MESH:C537969 owl:Class MONDO:0013156 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, Fktn-related|congenital muscular dystrophy-FKTN related|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|MDDGB4|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4 Orphanet:370980|UMLS:C2751052|OMIM:613152 owl:Class HGNC:7579 biolink:NamedThing MYH9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010989 biolink:NamedThing Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. tmpte7i6ely_mondo_relaxed.owl atypical MRKH syndrome|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|MURCS|MRKH, type 2|MRKH syndrome type 2|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|Mayer-Rokitansky-Küster-Hauser syndrome type 2|Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|MURCS association|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies|Klippel-Feil deformity, conductive deafness, and absent vagina Orphanet:2578|SCTID:717705004|OMIM:601076|Orphanet:3109|ICD10:Q87.8|GARD:0005513 owl:Class CL:0000103 biolink:NamedThing bipolar neuron A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body. tmpte7i6ely_mondo_relaxed.owl FMA:67282 cell owl:Class MONDO:0018829 biolink:NamedThing familial schizencephaly An instance of schizencephaly that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl familial schizencephaly|hereditary schizencephaly MESH:C538514|GARD:0000166|UMLS:C2931870|Orphanet:481986|UMLS:CN776926 owl:Class MONDO:0011386 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 1 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene. tmpte7i6ely_mondo_relaxed.owl MVCD1|microvascular complications of diabetes, susceptibility to, 1|microvascular complications of diabetes, susceptibility to|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA|nonproliferative retinopathy, diabetic, susceptibility to|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, protection against|VEGFA microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 1|nephropathy, diabetic, susceptibility to|neuropathy, diabetic, susceptibility to OMIM:603933 owl:Class MONDO:0032891 biolink:NamedThing aneurysm, intracranial berry, 12 tmpte7i6ely_mondo_relaxed.owl ANIB12|ANEURYSM, INTRACRANIAL BERRY, 12 OMIM:618734 owl:Class GO:0009066 biolink:NamedThing aspartate family amino acid metabolic process The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpte7i6ely_mondo_relaxed.owl aspartate family amino acid metabolism owl:Class MONDO:0007249 biolink:NamedThing camptobrachydactyly Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. tmpte7i6ely_mondo_relaxed.owl short foot/brachydactyly of toes, camptodactyly, brachydactyly|camptobrachydactyly OMIM:114150|Orphanet:1319|ICD10:Q74.8|MESH:C537967|GARD:0001062|SCTID:733045005 https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly owl:Class MONDO:0004864 biolink:NamedThing acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. tmpte7i6ely_mondo_relaxed.owl SCTID:8326008|DOID:9735|UMLS:C0155419|ICD9:381.05 owl:Class GO:1903353 biolink:NamedThing regulation of nucleus organization Any process that modulates the frequency, rate or extent of nucleus organization. tmpte7i6ely_mondo_relaxed.owl regulation of nucleus organization and biogenesis|regulation of nuclear organization|regulation of nuclear morphology|regulation of nuclear organisation|regulation of nuclear organization and biogenesis owl:Class MONDO:0003130 biolink:NamedThing mesoblastic nephroma A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. tmpte7i6ely_mondo_relaxed.owl mesoblastic nephroma (morphologic abnormality)|mesoblastic nephroma SCTID:307604008|ICD9:236.99|UMLS:C0206628|MESH:D018201|DOID:4772 owl:Class MONDO:0003435 biolink:NamedThing microcystic adenoma A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. tmpte7i6ely_mondo_relaxed.owl microcystic adenoma|microcystic adenoma (morphologic abnormality) MESH:D000236|UMLS:C0205648|DOID:5403|ICDO:8202/0|NCIT:C3685 owl:Class MONDO:0010706 biolink:NamedThing premature ovarian failure 1 Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene. tmpte7i6ely_mondo_relaxed.owl FMR1-related premature ovarian failure|Pof1|FMR1 primary ovarian failure|fragile X-associated primary ovarian insufficiency|premature ovarian failure, X-linked|familial premature ovarian failure|idiopathic familial premature ovarian failure|FMR1-related primary ovarian insufficiency|ovarian failure, premature|premature ovarian failure type 1|primary ovarian failure caused by mutation in FMR1|premature ovarian failure 1|hypergonadotropic ovarian failure, X-linked OMIM:311360|GARD:0004480|ICD9:256.39 owl:Class MONDO:0017743 biolink:NamedThing disorder of O-N-acetylgalactosaminylglycan synthesis tmpte7i6ely_mondo_relaxed.owl Orphanet:309458|UMLS:CN227190|ICD10:E77.8 owl:Class MONDO:0009540 biolink:NamedThing chronic mucocutaneous candidiasis due to lymphokine deficiency tmpte7i6ely_mondo_relaxed.owl lymphokine deficiency MESH:C565428|UMLS:C1855471|OMIM:247650 owl:Class MONDO:0030314 biolink:NamedThing inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive|inflammatory bowel disease, early-onset, autosomal recessive|IBD31 OMIM:619398 owl:Class UBERON:0016886 biolink:NamedThing muscle tissue of terminal part of digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:8000011 biolink:NamedThing external import ontology module An imported ontology module that is derived from an external ontology. Derivation methods include the OWLAPI SLME approach. tmpte7i6ely_mondo_relaxed.owl external import external import ontology module owl:Class IAO:8000005 biolink:NamedThing import ontology module A subset ontology module that is intended to be imported from another ontology. tmpte7i6ely_mondo_relaxed.owl import file TODO: add axioms that indicate this is the output of a module extraction process. import ontology module owl:Class MONDO:0025096 biolink:NamedThing malignant catarrh A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte. tmpte7i6ely_mondo_relaxed.owl catarrh, malignant|Catarrhs, malignant|malignant catarrhal fever|fevers, malignant catarrhal|malignant catarrhal fevers|catarrhal fever, malignant|fever, malignant catarrhal|catarrhal fevers, malignant|malignant Catarrhs UMLS:C0276241|SCTID:24043009|MESH:D008304 owl:Class MONDO:0016560 biolink:NamedThing ptosis-syndactyly-learning difficulties syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:238766|UMLS:CN201643 owl:Class MONDO:0018860 biolink:NamedThing microlissencephaly-micromelia syndrome Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. tmpte7i6ely_mondo_relaxed.owl Basel-Vanagaite-Sirota syndrome ICD10:Q04.3|Orphanet:50810|UMLS:CN205181 owl:Class HGNC:33020 biolink:NamedThing SNORD115-1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015787 biolink:NamedThing symptomatic form of hemophilia A in female carriers A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. tmpte7i6ely_mondo_relaxed.owl ICD10:D66|UMLS:CN200369|Orphanet:177926 owl:Class MONDO:0012272 biolink:NamedThing intellectual disability, keratoconus, febrile seizures, and sinoatrial block tmpte7i6ely_mondo_relaxed.owl intellectual disability, keratoconus, febrile seizures, and sinoatrial block|mental retardation, keratoconus, febrile seizures, and sinoatrial block OMIM:609438|GARD:0010064|UMLS:C1836202|MESH:C537452 https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block owl:Class CL:0000946 biolink:NamedThing antibody secreting cell A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0001806 biolink:NamedThing type IV hypersensitivity An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation. tmpte7i6ely_mondo_relaxed.owl delayed-type hypersensitivity|delayed hypersensitivity response owl:Class MONDO:0024652 biolink:NamedThing embryonic cyst of fallopian tube tmpte7i6ely_mondo_relaxed.owl embryonic cyst of fallopian tube|cyst of mesenteric remnant SCTID:302954008|ICD10:Q50.4 owl:Class HP:0004324 biolink:NamedThing Increased body weight Abnormally increased body weight. tmpte7i6ely_mondo_relaxed.owl Weight gain|Increased body weight SNOMEDCT_US:161831008|SNOMEDCT_US:8943002|MSH:D015430|UMLS:C0043094|SNOMEDCT_US:262286000 peter 2008-02-27T03:21:00Z HP:0045083 human_phenotype owl:Class HP:0004323 biolink:NamedThing Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. tmpte7i6ely_mondo_relaxed.owl Abnormality of body weight|Abnormality of habitus UMLS:C4025357|UMLS:C0878621 peter 2008-02-27T03:21:00Z HP:0010718 human_phenotype owl:Class MONDO:0032833 biolink:NamedThing lower urinary tract obstruction, congenital tmpte7i6ely_mondo_relaxed.owl LUTO|LOWER URINARY TRACT OBSTRUCTION, CONGENITAL OMIM:618612 owl:Class GO:0007632 biolink:NamedThing visual behavior The behavior of an organism in response to a visual stimulus. tmpte7i6ely_mondo_relaxed.owl visual behaviour|behavioral response to visual stimulus|behavioural response to visual stimulus owl:Class HGNC:24212 biolink:NamedThing CISD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016954 biolink:NamedThing partial duplication of the long arm of chromosome 3 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl chromosome 3q duplication|trisomy 3q|partial duplication of the long arm of chromosome type 3|partial trisomy of chromosome 3q|chromosome 3, trisomy 3q|Duplication 3q|partial duplication of chromosome 3q GARD:0005345|MESH:C536813|Orphanet:262851|UMLS:C0795809 owl:Class MONDO:0002797 biolink:NamedThing childhood medulloblastoma A medulloblastoma occurring in children. tmpte7i6ely_mondo_relaxed.owl medulloblastoma|pediatric medulloblastoma|medulloblastoma, childhood|childhood medulloblastoma|medulloblastoma of childhood MESH:D008527|GARD:0009350|UMLS:C0278510|DOID:3869|NCIT:C3997 https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood owl:Class NCBITaxon:693996 biolink:NamedThing Alphacoronavirus tmpte7i6ely_mondo_relaxed.owl Group 1 species|Coronavirus group 1|Coronavirus GC_ID:1 NCBITaxon:446038|NCBITaxon:156438 ncbi_taxonomy owl:Class MONDO:0011422 biolink:NamedThing autosomal recessive proximal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. tmpte7i6ely_mondo_relaxed.owl renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|proximal renal tubular acidosis, autosomal recessive|AR pRTA|RTA, proximal, autosomal recessive|proximal renal tubular acidosis with ocular abnormalities and intellectual disability|renal tubular acidosis, proximal, with ocular abnormalities and mental retardation UMLS:C1970309|Orphanet:93607|Orphanet:47159|OMIM:604278|MESH:C567038 owl:Class MONDO:0012176 biolink:NamedThing Emanuel syndrome Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. tmpte7i6ely_mondo_relaxed.owl supernumerary der(22) syndrome|Der(22)t(11;22) syndrome|supernumerary der(22),t(11;22) syndrome|supernumerary Der(22)T(11|Emanuel syndrome Orphanet:96170|SCTID:702417004|UMLS:C1836929|MESH:C535733|ICD10:Q92.6|ICD9:758.5|GARD:0009835|OMIM:609029 https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome owl:Class GO:0046390 biolink:NamedThing ribose phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. tmpte7i6ely_mondo_relaxed.owl ribose phosphate formation|ribose phosphate synthesis|ribose phosphate biosynthesis|ribose phosphate anabolism owl:Class MONDO:0004694 biolink:NamedThing hepatopulmonary syndrome Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases. tmpte7i6ely_mondo_relaxed.owl SCTID:371067004|ICD10:K76.81|EFO:1001346|DOID:900|UMLS:C0600452|ICD9:573.5|GARD:0013384|ICD9:417.8|MESH:D020065 https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome owl:Class MONDO:0009838 biolink:NamedThing Parana hard-skin syndrome A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. tmpte7i6ely_mondo_relaxed.owl hard skin syndrome, Parana type|Parana hard skin syndrome|hard skin syndrome Parana type|hard-skin syndrome, Parana type|Parana hard-skin syndrome MESH:C564905|OMIM:260530|UMLS:C1850079|ICD10:L91.8|NCIT:C126559|GARD:0002598|Orphanet:2812 owl:Class UBERON:0005028 biolink:NamedThing mucosa of maxillary sinus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002464 biolink:NamedThing lacrimal gland cancer A malignant neoplasm involving the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl malignant lacrimal gland neoplasm|malignant lacrimal gland tumor|malignant tumor of lacrimal gland|lacrimal gland cancer|malignant neoplasm of the lacrimal gland|malignant tumour of lacrimal gland|tumor of the lacrimal gland|malignant neoplasm of lacrimal gland|malignant tumor of the lacrimal gland|cancer of lacrimal gland DOID:294|ICD9:190.2|SCTID:127004000|ICD9:239.89|NCIT:C3563|NCIT:C4360 owl:Class OBO:CHR_9606-chr15q14 biolink:NamedThing 15q14 (Human) tmpte7i6ely_mondo_relaxed.owl 39800000 33400000 hg38 owl:Class UBERON:0019291 biolink:NamedThing white matter of metencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015585 biolink:NamedThing cryptogenic late-onset epileptic spasms Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. tmpte7i6ely_mondo_relaxed.owl late-onset infantile spasms Orphanet:163708 owl:Class MONDO:0017464 biolink:NamedThing congenital pseudoarthrosis of the fibula tmpte7i6ely_mondo_relaxed.owl congenital pseudarthrosis of the fibula ICD10:Q74.2|Orphanet:295022 owl:Class CHEBI:52209 biolink:NamedThing aetiopathogenetic role A role played by the molecular entity or part thereof which causes the development of a pathological process. tmpte7i6ely_mondo_relaxed.owl etiopathogenetic agent|etiopathogenetic role owl:Class MONDO:0030346 biolink:NamedThing ciliary dyskinesia, primary, 47, and lissencephaly tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 47, and lissencephaly|CILD47 OMIM:619466 owl:Class MONDO:0004089 biolink:NamedThing basaloid carcinoma of the penis An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present. tmpte7i6ely_mondo_relaxed.owl basaloid squamous cell carcinoma of penis|basaloid carcinoma of the penis|squamous cell carcinoma of the penis, basaloid type|basaloid squamous cell carcinoma of the penis|BPSCC|penis basaloid squamous cell carcinoma|squamous cell carcinoma of penis, basaloid type|basaloid penile squamous cell carcinoma|basaloid carcinoma of penis|penis basaloid carcinoma DOID:7047|ONCOTREE:BPSCC|UMLS:C1332462|NCIT:C6980 owl:Class MONDO:0044725 biolink:NamedThing combined immunodeficiency due to GINS1 deficiency tmpte7i6ely_mondo_relaxed.owl combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|immunodeficiency 55|CID due to GINS1 deficiency|IMD55|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia OMIM:617827|Orphanet:505227|UMLS:CN737162 https://github.com/monarch-initiative/mondo/issues/3191 owl:Class MONDO:0002275 biolink:NamedThing generalized atherosclerosis Atherosclerosis that is not localized. tmpte7i6ely_mondo_relaxed.owl generalized and unspecified atherosclerosis|generalised atherosclerosis SCTID:39823006|ICD10:I70.91|DOID:2347|UMLS:C0017327|ICD9:440.9|NCIT:C35767 owl:Class MONDO:0009960 biolink:NamedThing inflammatory bowel disease 1 Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease caused by mutation in NOD2|Crohn disease-associated Growth failure, susceptibility to|IBD1|pediatric ulcerative colitis|inflammatory bowel disease type 1|ulcerative colitis, pediatric|NOD2 inflammatory bowel disease|Crohn disease|regional enteritis|inflammatory bowel disease 1|inflammatory bowel disease (Crohn disease) 1|ulcerative colitis UMLS:C0009324|GARD:0009857|SCTID:34000006|DOID:0110892|OMIM:266600|ICD9:555.9 owl:Class NCBITaxon:967 biolink:NamedThing Spirillum tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:19625415 ncbi_taxonomy owl:Class NCBITaxon:119068 biolink:NamedThing Spirillaceae tmpte7i6ely_mondo_relaxed.owl Spirillum group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007215 biolink:NamedThing brachydactyly type A1 Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. tmpte7i6ely_mondo_relaxed.owl Farabee-type brachydactyly|brachydactyly Farabee type|brachydactyly, Farabee type|Farabee type brachydactyly|brachydactyly, type A1|BDA1 OMIM:607004|OMIM:616849|GARD:0000978|Orphanet:93388|UMLS:C1862151|OMIM:615072|ICD10:Q73.8|MESH:C537088|DOID:0110964|SCTID:715720006 https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 owl:Class MONDO:0010791 biolink:NamedThing myoglobinuria, recurrent An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner. tmpte7i6ely_mondo_relaxed.owl myoglobinuria recurrent|myoglobinuria, recurrent GARD:0003879|Orphanet:99845|OMIM:550500|MESH:C564018 https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent owl:Class MONDO:0008095 biolink:NamedThing nevus anemicus A capillary vascular anomaly that is characterized by hypopigmented macules. tmpte7i6ely_mondo_relaxed.owl Nevus anemicus|nevus anemicus (disease)|anemicus Nevus|NEVUS anemicus nevus anemicus (disease) HP:0025105|SCTID:40929003|OMIM:163050|ICD9:709.09|NCIT:C3943 owl:Class SO:0000946 biolink:NamedThing integration_excision_site A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site. tmpte7i6ely_mondo_relaxed.owl attachment site|integration excision site owl:Class UBERON:0035036 biolink:NamedThing naris epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001634 biolink:NamedThing bladder leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl bladder leiomyoma|leiomyoma of bladder|leiomyoma of the urinary bladder|leiomyoma of urinary bladder|leiomyoma of the bladder|urinary bladder leiomyoma DOID:13109|UMLS:C1332560|NCIT:C6178 owl:Class MONDO:0100030 biolink:NamedThing adolescent/adult-onset epilepsy syndrome An epilepsy syndrome that has an onset during the adolescent or adult stage of life. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 01:43:18+00:00 http://orcid.org/0000-0001-8486-0558 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class UBERON:0010499 biolink:NamedThing pseudostratified ciliated columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003315 biolink:NamedThing mesenchyme of ovary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019032 biolink:NamedThing X-linked intellectual disability with isolated growth hormone deficiency tmpte7i6ely_mondo_relaxed.owl MRGH OMIM:300123|Orphanet:67045|UMLS:C1848068|ICD10:E23.0 owl:Class MONDO:0000626 biolink:NamedThing vestibular gland benign neoplasm A benign neoplasm that involves the vestibular gland. tmpte7i6ely_mondo_relaxed.owl vestibular gland benign neoplasm DOID:0060088 owl:Class HGNC:11733 biolink:NamedThing TEX11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011374 biolink:NamedThing hypercholesterolemia, familial, 4 An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. tmpte7i6ely_mondo_relaxed.owl FHCB2|hypercholesterolemia, autosomal recessive, 2|familial autosomal recessive hypercholesterolemia|FHCB2, formerly|hypercholesterolemia, autosomal recessive, 1|autosomal recessive hypercholesterolemia 1|ARH|hypercholesterolemia, autosomal recessive|hypercholesterolemia, autosomal recessive, 1, formerly|autosomal recessive hypercholesterolemia 2|ARH2|hypercholesterolemia, autosomal recessive, 2, formerly|FHCB1|FHCB1, formerly|ARH1 DOID:0090105|MESH:C566331|UMLS:C1863512|Orphanet:391665|NCIT:C128114|OMIM:603813|ICD10:E78.0 owl:Class MONDO:0018328 biolink:NamedThing homozygous familial hypercholesterolemia tmpte7i6ely_mondo_relaxed.owl HoFH|homozygous familial hypercholesterolemia Orphanet:391665|OMIM:603813|ICD10:E78.0|OMIM:143890|OMIM:602247|SCTID:238078005 owl:Class MONDO:0010700 biolink:NamedThing optic atrophy--spastic paraplegia syndrome tmpte7i6ely_mondo_relaxed.owl optic atrophy--spastic paraplegia syndrome OMIM:311100|UMLS:C1839565|MESH:C564084 owl:Class MONDO:0014878 biolink:NamedThing patent ductus arteriosus 2 tmpte7i6ely_mondo_relaxed.owl patent ductus arteriosus 2|PDA2|patent ductus arteriosus type 2|patent ductus arteriosus 2; PDA2 UMLS:C4284595|OMIM:617035 owl:Class MONDO:0004556 biolink:NamedThing carcinoma arising in nasal papillomatosis A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. tmpte7i6ely_mondo_relaxed.owl carcinoma arising in nasal papillomatosis DOID:8415|UMLS:C1332840|NCIT:C27389 owl:Class MONDO:0014555 biolink:NamedThing peeling skin syndrome type A Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. tmpte7i6ely_mondo_relaxed.owl non-inflammatory generalized peeling skin syndrome type A.|PSS type A|PSS3|generalized deciduous skin type A|peeling skin syndrome type 3|peeling skin syndrome 3|generalized peeling skin syndrome type A|non-inflammatory peeling skin syndrome type A OMIM:616265|UMLS:C4015729|ICD10:Q80.8|Orphanet:263543|Orphanet:263548 owl:Class NCIT:C16150 biolink:NamedThing Estrogen Receptor Status tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021493 biolink:NamedThing benign neoplasm of minor salivary gland A benign neoplasm that involves the minor salivary gland. tmpte7i6ely_mondo_relaxed.owl benign minor salivary gland neoplasm|benign neoplasm of the minor salivary gland|minor salivary gland benign neoplasm|benign minor salivary gland tumor|benign tumor of the minor salivary gland|benign tumor of minor salivary gland UMLS:C0345615|SCTID:92220004|ICD9:210.4|NCIT:C4411 owl:Class MONDO:0005134 biolink:NamedThing experimental autoimmune encephalomyelitis An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis. tmpte7i6ely_mondo_relaxed.owl NCIT:C3006|MESH:D004681|EFO:0001066 owl:Class MONDO:0006704 biolink:NamedThing CNS demyelinating autoimmune disease Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens. tmpte7i6ely_mondo_relaxed.owl MESH:D020278|EFO:1000870 owl:Class MONDO:0003989 biolink:NamedThing polyembryoma of the ovary A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos. tmpte7i6ely_mondo_relaxed.owl polyembryoma|ovarian polyembryoma NCIT:C39990|UMLS:C1514199|ONCOTREE:OPE|DOID:6774 owl:Class MONDO:0044709 biolink:NamedThing cochleovestibular dysplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:502305 owl:Class HGNC:14889 biolink:NamedThing DNAJB11 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000146 biolink:NamedThing simple columnar epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0024330 biolink:NamedThing infectious otitis media Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. tmpte7i6ely_mondo_relaxed.owl otitis media|AOM|middle Ear infection|acute otitis Media|infectious otitis Media NCIT:C84354|UMLS:C0271429|UMLS:C2827407 owl:Class MONDO:0005929 biolink:NamedThing postpartum depression A type of clinical depression that occurs after childbirth. tmpte7i6ely_mondo_relaxed.owl postpartum depression|depression, post-Natal|post partum depression|post Natal depression|depressive episode with postpartum onset|post-partum depression|maternity blues|depression, post-partum|post-Natal depression|postnatal depression|depression, postnatal|major depressive episode with peripartum onset EFO:0007453|MESH:D019052|ICD10:F53|NCIT:C92852|DOID:9478|SCTID:279225001 owl:Class MONDO:0001232 biolink:NamedThing orbital osteomyelitis tmpte7i6ely_mondo_relaxed.owl orbital osteomyelitis SCTID:65875003|ICD9:376.03|DOID:11232|UMLS:C0155258|ICD10:H05.02 owl:Class HGNC:21580 biolink:NamedThing KIAA0319 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017362 biolink:NamedThing neuralgic amyotrophy Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. tmpte7i6ely_mondo_relaxed.owl mononeuritis multiplex with brachial predilection|immune brachial plexus neuropathy|acute brachial plexus neuritis|neuralgic shoulder amyotrophy|brachial plexus neuritis OMIM:162100|ICD10:G54.5|MedDRA:10063020|Orphanet:2901 owl:Class MONDO:0009539 biolink:NamedThing lymphoblastic leukemia, acute, with lymphomatous features tmpte7i6ely_mondo_relaxed.owl lymphomatous All|lymphoblastic leukemia, acute, with lymphomatous features|lall UMLS:C1855472|MESH:C565429|OMIM:247640|Orphanet:513 owl:Class MONDO:0007359 biolink:NamedThing commissural lip pits tmpte7i6ely_mondo_relaxed.owl commissural lip pits SCTID:109550008|OMIM:120500 owl:Class MONDO:0001708 biolink:NamedThing pulmonary sarcoidosis Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. tmpte7i6ely_mondo_relaxed.owl lung sarcoidosis|sarcoidosis of lung DOID:13406|NCIT:C34997|MESH:D017565|UMLS:C0036205|ICD9:517.8|ICD10:D86.0|SCTID:24369008 owl:Class MONDO:0001024 biolink:NamedThing pneumonic plague A plague in which the bacteria have infected the lungs. tmpte7i6ely_mondo_relaxed.owl primary pneumonic plague|secondary pneumonic plague ICD9:020.3|ICD9:020.4|ICD10:A20.2|ICD9:020.5|MESH:D010930|SCTID:35339003|UMLS:C0524688|DOID:10398 owl:Class MONDO:0013061 biolink:NamedThing myofibrillar myopathy 6 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. tmpte7i6ely_mondo_relaxed.owl BAG3-related myofibrillar myopathy|myofibrillar myopathy (disease) caused by mutation in BAG3|myofibrillar myopathy 6|muscular dystrophy, Selcen type|BAG3 myofibrillar myopathy (disease)|myopathy, myofibrillar, Bag3-related|myopathy, myofibrillar, type 6|myofibrillar myopathy type 6|MFM6|myopathy, myofibrillar, 6 MESH:C567843|Orphanet:199340|DOID:0080097|ICD10:G71.8|OMIM:612954 owl:Class FOODON:00001055 biolink:NamedThing sea water fish food product tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03315173 biolink:NamedThing fish product (unspecified species) A fish product is a home-made or commercially produced or retail or wholesale product containing substantial amounts of freshwater or saltwater fish and/or shellfish flesh. Note that this category should avoid items that mention a particular species of fish or shellfish. tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F15173 SIREN DB annotation: * derives from 'skeletal meat part' (http://purl.obolibrary.org/obo/FOODON_03420175) http://langual.org subset_siren https://en.wikipedia.org/wiki/Fish_products Damion Dooley owl:Class MONDO:0001999 biolink:NamedThing primary pulmonary hypertension Increased blood pressure in the arteries of the lungs; the etiology is unknown. tmpte7i6ely_mondo_relaxed.owl primary pulmonary hypertension|pulmonary hypertension, primary OMIM:178600|Orphanet:422|ICD9:416.0|OMIM:615344|OMIM:615342|OMIM:615343|NCIT:C97119|DOID:14557|OMIM:265400|ICD10:I27.0 owl:Class HGNC:3007 biolink:NamedThing DPM3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2844 biolink:NamedThing DGCR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002301 biolink:NamedThing layer of neocortex tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25928 biolink:NamedThing WDR73 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007361 biolink:NamedThing C1 inhibitor deficiency tmpte7i6ely_mondo_relaxed.owl complement component 4, partial deficiency OF ICD10:D84.1|Orphanet:459353|Orphanet:169147|DOID:0060002|OMIM:120790|UMLS:C1852700 owl:Class MONDO:0013077 biolink:NamedThing Santos syndrome tmpte7i6ely_mondo_relaxed.owl Santos syndrome|fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome MESH:C567819|UMLS:C2751698|OMIM:613005 owl:Class HGNC:4288 biolink:NamedThing GJB6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9717 biolink:NamedThing PEX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001695 biolink:NamedThing senile ectropion tmpte7i6ely_mondo_relaxed.owl involutional ectropion DOID:13356|SCTID:71659009|ICD9:374.11|UMLS:C0155193 owl:Class MONDO:0009079 biolink:NamedThing DOORS syndrome DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome. tmpte7i6ely_mondo_relaxed.owl DOORS|deafness onychodystrophy osteodystrophy and intellectual disability syndrome|deafness-onychoosteodystrophy-intellectual disability syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|brachydactyly due to absence of distal phalanges|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome|Digitorenocerebral syndrome|drc syndrome|door syndrome|DOORS syndrome|deafness onychodystrophy osteodystrophy and mental retardation syndrome|Eronen syndrome|autosomal recessive deafness-onychodystrophy syndrome DOID:0111627|Orphanet:79500|ICD10:Q87.8|MESH:C563052|GARD:0001685|Orphanet:3231|OMIM:220500|SCTID:719800009 https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome owl:Class HP:0005372 biolink:NamedThing Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. tmpte7i6ely_mondo_relaxed.owl Reduced B cell function|Abnormality of B cell physiology UMLS:C1849242 This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. HP:0005398 human_phenotype owl:Class GO:0070470 biolink:NamedThing plasma membrane respirasome A respiratory chain located in the plasma membrane of a cell; made up of the protein complexes that form the electron transport system (the respiratory chain), associated with the plasma membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpte7i6ely_mondo_relaxed.owl plasma membrane respiratory chain|plasma membrane electron transport chain owl:Class MONDO:0030341 biolink:NamedThing myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive|CMS7B OMIM:619461 owl:Class GO:0090357 biolink:NamedThing regulation of tryptophan metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpte7i6ely_mondo_relaxed.owl regulation of tryptophan metabolism owl:Class MONDO:0020359 biolink:NamedThing congenital symblepharon tmpte7i6ely_mondo_relaxed.owl ICD10:Q11.2|Orphanet:98948|DOID:0111720 owl:Class NCBITaxon:85512 biolink:NamedThing Dicondylia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015457 biolink:NamedThing corpus callosum agenesis-double urinary collecting system syndrome tmpte7i6ely_mondo_relaxed.owl corpus callosum agenesis - double urinary collecting system|Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis-double urinary collecting system syndrome|Ben Ari-Shuper-Mimouni syndrome|agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|corpus callosum agenesis double urinary collecting GARD:0001536|GARD:0000852|Orphanet:1492|UMLS:C2930897|MESH:C535427 https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting owl:Class MONDO:0009594 biolink:NamedThing metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl metaphyseal chondrodysplasia, Kaitila type MESH:C565400|Orphanet:166038|OMIM:250230|UMLS:C1855217 owl:Class MONDO:0014651 biolink:NamedThing acrofacial dysostosis Cincinnati type Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene. tmpte7i6ely_mondo_relaxed.owl acrofacial dysostosis, Cincinnati type|acrofacial dysostosis caused by mutation in POLR1A|POLR1A acrofacial dysostosis|AFDCIN DOID:0060353|OMIM:616462|UMLS:C4225317 owl:Class MONDO:0011294 biolink:NamedThing schizophrenia 5 A schizophrenia that has material basis in a mutation on chromosome 6q13-q26. tmpte7i6ely_mondo_relaxed.owl schizophrenia 5 with or without an affective disorder|SCZD5|schizophrenia susceptibility locus, chromosome 6Q-related|schizophrenia 5 UMLS:C1864153|DOID:0070081|OMIM:603175 owl:Class MONDO:0002202 biolink:NamedThing outlet dysfunction constipation tmpte7i6ely_mondo_relaxed.owl DOID:2088|ICD9:564.02|ICD10:K59.02 owl:Class GO:0015893 biolink:NamedThing drug transport The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013031 biolink:NamedThing chromosome 5Q14.3 deletion syndrome, distal tmpte7i6ely_mondo_relaxed.owl chromosome 5Q14.3 deletion syndrome, distal|heterotopia, periventricular, associated with chromosome 5Q deletion|periventricular nodular heterotopia 5 Orphanet:2149|MESH:C567876|OMIM:612881|UMLS:C2752071|Orphanet:98892 owl:Class ENVO:01000032 biolink:NamedThing neritic pelagic zone biome The neritic epipelagic zone biome comprises the marine water column above a continental shelf. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013894 biolink:NamedThing short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome tmpte7i6ely_mondo_relaxed.owl soft syndrome|soft|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM:614813|UMLS:C3542022|Orphanet:314394|ICD10:Q87.1 owl:Class MONDO:0032796 biolink:NamedThing hyper-IgE recurrent infection syndrome 4, autosomal recessive tmpte7i6ely_mondo_relaxed.owl HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE|HIES4 OMIM:618523|DOID:0080596 owl:Class CL:0002430 biolink:NamedThing CD4-intermediate, CD8-positive double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor. tmpte7i6ely_mondo_relaxed.owl T.4int8+.Th tmeehan 2010-10-21T02:29:19Z cell owl:Class HGNC:11641 biolink:NamedThing TCF7L2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030454 biolink:NamedThing Joubert syndrome 39 tmpte7i6ely_mondo_relaxed.owl JBTS39 OMIM:619562 owl:Class HGNC:8622 biolink:NamedThing PAX8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014241 biolink:NamedThing leukemia, acute lymphoblastic, susceptibility to, 3 Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene. tmpte7i6ely_mondo_relaxed.owl leukemia, acute lymphoblastic, susceptibility to, type 3|susceptibility to acute lymphoblastic leukemia 3|PAX5 precursor B-cell acute lymphoblastic leukemia|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|leukemia, acute lymphoblastic, susceptibility to, 3|ALL3 Orphanet:99860|UMLS:C3809874|OMIM:615545 owl:Class MONDO:0022613 biolink:NamedThing bruyn scheltens syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001034 https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome owl:Class ENVO:01001652 biolink:NamedThing atmospheric aerosol An aerosol that is suspended in an atmosphere. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017598 biolink:NamedThing primary cutaneous anaplastic large cell lymphoma Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. tmpte7i6ely_mondo_relaxed.owl primary anaplastic large cell lymphoma of skin|anaplastic large-cell lymphoma, primary cutaneous type|primary cutaneous CD30+ anaplastic large cell lymphoma|primary C-ALCL|primary anaplastic large cell lymphoma of the skin|ALCL, cutaneous|regressive atypical histiocytosis|C-ALCL|primary cutaneous CD30 Positive anaplastic large cell lymphoma|primary cutaneous CD30+ ALCL ONCOTREE:PCALCL|MESH:D054446|MedDRA:10065863|NCIT:C6860|ICD10:C86.6|Orphanet:300865|UMLS:C1301362 owl:Class MONDO:0042497 biolink:NamedThing mycotoxicosis Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). tmpte7i6ely_mondo_relaxed.owl Mycotoxicoses|Fungi caused poisoning|fungus poisoning|fungus Poisonings|poisoning, fungus|Poisonings, fungus|Fungi poisoning MESH:D015651|SCTID:26033009 owl:Class MONDO:0017063 biolink:NamedThing total spina bifida aperta tmpte7i6ely_mondo_relaxed.owl UMLS:CN202422|Orphanet:268377 owl:Class MONDO:0011312 biolink:NamedThing thyroid carcinoma, nonmedullary, with or without cell oxyphilia tmpte7i6ely_mondo_relaxed.owl nonmedullary thyroid carcinoma, with or without cell oxyphilia|TCO 1|thyroid carcinoma, nonmedullary, with or without cell oxyphilia|TCO|TCO1 UMLS:C1863925|Orphanet:319487|OMIM:603386|GARD:0008488|MESH:C537842 https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia owl:Class CHEBI:136849 biolink:NamedThing 3-oxo-Delta(4)-steroid group An organic group derived from any 3-oxo-Delta(4)-steroid. tmpte7i6ely_mondo_relaxed.owl a 3-oxo-Delta4-steroid group owl:Class MONDO:0013325 biolink:NamedThing COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. tmpte7i6ely_mondo_relaxed.owl CDG2I|CDG III|CDG-III|CDG syndrome type III|CDG syndrome type 3|carbohydrate deficient glycoprotein syndrome type III|congenital disorder of glycosylation type III|congenital disorder of glycosylation, type III|congenital disorder of glycosylation type 2i|COG5-CDG (CDG-III) OMIM:613612|UMLS:C3150876|ICD10:E77.8|GARD:0001173|Orphanet:263487|DOID:0070261|SCTID:721100009|GARD:0012348 https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 owl:Class ENVO:01001135 biolink:NamedThing desert planet A terrestrial planet which has a surface dominated by hot deserts. tmpte7i6ely_mondo_relaxed.owl dry planet owl:Class MONDO:0041366 biolink:NamedThing acute epiglottitis Acute form of epiglottitis. tmpte7i6ely_mondo_relaxed.owl epiglottitis, acute|acute epiglottitis|acute epiglottitis and supraglottitis SCTID:29608009 owl:Class MONDO:0008083 biolink:NamedThing ceroid lipofuscinosis, neuronal, 4 (Kufs type) A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpte7i6ely_mondo_relaxed.owl CLN4B|Kufs disease, autosomal dominant|adult neuronal ceroid lipofuscinosis 4B|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant|CLN4B disease|autosomal dominant neuronal ceroid lipofuscinosis 4B|ceroid lipofuscinosis, neuronal, parry type|Kuf's disease type B|neuronal ceroid lipofuscinosis type 4B|neuronal ceroid lipofuscinosis, parry type|ceroid lipofuscinosis, neuronal, 4 (Kufs type)|Kuf's disease, autosomal dominant|CLN4|neuronal ceroid lipofuscinosis 4B|neuronal ceroid lipofuscinosis 4 parry type|autosomal dominant Kufs disease UMLS:C4284284|GARD:0001222|UMLS:C1834207|DOID:0110720|Orphanet:228343|NCIT:C128116|OMIM:162350|Orphanet:79262|ICD10:E75.4 owl:Class MONDO:0044783 biolink:NamedThing solid papillary breast carcinoma A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma. tmpte7i6ely_mondo_relaxed.owl solid Papillary breast carcinoma|solid Papillary carcinoma of the breast NCIT:C6870|ONCOTREE:SPC owl:Class MONDO:0015716 biolink:NamedThing moderately severe hemophilia B Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpte7i6ely_mondo_relaxed.owl moderately severe factor IX deficiency|moderately severe hemophilia type B UMLS:CN200228|ICD10:D67|Orphanet:169796 owl:Class HGNC:12472 biolink:NamedThing UBE2A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014885 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010784 biolink:NamedThing chloramphenicol toxicity tmpte7i6ely_mondo_relaxed.owl chloramphenicol resistance|anemia, chloramphenicol-induced|chloramphenicol toxicity OMIM:515000 owl:Class MONDO:0030438 biolink:NamedThing pontocerebellar hypoplasia, type 16 tmpte7i6ely_mondo_relaxed.owl PCH16 OMIM:619527 owl:Class PCO:0000000 biolink:NamedThing collection of organisms A material entity that consists of two or more organisms, viruses, or viroids. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001327 biolink:NamedThing pelvic muscle wasting tmpte7i6ely_mondo_relaxed.owl ICD9:618.83|DOID:11629|ICD10:N81.84 owl:Class MONDO:0006696 biolink:NamedThing cervix erosion Loss or destruction of the epithelial lining of the uterine cervix. tmpte7i6ely_mondo_relaxed.owl erosion of cervix MedDRA:10015128|MESH:D002579|UMLS:C0007869|DOID:3456|EFO:1000862|SCTID:61253004 owl:Class MONDO:0008518 biolink:NamedThing calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. tmpte7i6ely_mondo_relaxed.owl calcaneonavicular coalition|synostoses, tarsal, carpal and digital|synostoses, tarsal, carpal, and digital|multiple synostosis syndrome UMLS:C0175700|DOID:14762|ICD9:755.8|SCTID:62628008|OMIM:186400|MESH:C538156|Orphanet:1412|GARD:0009863 owl:Class GO:1900450 biolink:NamedThing negative regulation of glutamate receptor signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway. tmpte7i6ely_mondo_relaxed.owl downregulation of glutamate signaling pathway|downregulation of glutamate receptor signaling pathway|down regulation of glutamate signaling pathway|down-regulation of glutamate signalling pathway|down-regulation of glutamate signaling pathway|inhibition of glutamate receptor signaling pathway|down-regulation of glutamate receptor signaling pathway|downregulation of glutamate signalling pathway|negative regulation of glutamate signalling pathway|inhibition of glutamate signaling pathway|inhibition of glutamate signalling pathway|negative regulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway owl:Class UBERON:0002457 biolink:NamedThing intersomitic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005649 biolink:NamedThing appendicitis Acute inflammation of the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl acute appendicitis with generalized peritonitis|acute appendicitis|inflammation of vermiform appendix|acute appendicitis with peritoneal abscess|vermiform appendix inflammation NCIT:C35145|ICD10:K37|SCTID:74400008|MESH:D001064|EFO:0007149|ICD9:541|DOID:8337|ICD9:540-543.99|UMLS:C0003615 owl:Class MONDO:0010994 biolink:NamedThing micromelic dwarfism, Fryns type tmpte7i6ely_mondo_relaxed.owl micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects|dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|SEMD, micromelic|spondyloepimetaphyseal dysplasia micromelic|spondyloepimetaphyseal dysplasia, micromelic 2022-04-01 UMLS:C1832800|ICD10:Q77.8|SCTID:715479009|MESH:C537556|OMIM:601096|GARD:0003642|Orphanet:2641 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0018465 biolink:NamedThing insulin autoimmune syndrome Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood. tmpte7i6ely_mondo_relaxed.owl Hirata disease|insulin autoimmune hypoglycemia GARD:0010808|ICD9:279.49|DOID:0040100|ICD10:E16.1|UMLS:C0854359|Orphanet:411593|SCTID:408539000 https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome owl:Class MONDO:0008340 biolink:NamedThing congenital ptosis Congenital ptosis is characterized by superior eyelid drop present at birth. tmpte7i6ely_mondo_relaxed.owl congenital ptosis (disease)|ptosis, hereditary congenital 1|congenital eyelid ptosis|PTOS1|congenital ptosis congenital ptosis (disease) ICD10:Q10.0|SCTID:268163008|OMIM:616219|Orphanet:91411|ICD9:743.61|OMIM:300245|NCIT:C27049|DOID:0060261|MedDRA:10015996|OMIM:178300|HP:0007970|MESH:C566737 owl:Class UBERON:0035608 biolink:NamedThing dura mater lymph vessel tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3687 biolink:NamedThing FGF9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001479 biolink:NamedThing cutaneous diphtheria A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. tmpte7i6ely_mondo_relaxed.owl cutaneous diphtheria SCTID:18901009|UMLS:C0012555|NCIT:C34544|ICD9:032.85|DOID:12275|ICD10:A36.3|EFO:1000683 owl:Class NCBITaxon:115425 biolink:NamedThing Cochliomyia hominivorax tmpte7i6ely_mondo_relaxed.owl primary screw-worm GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:66360 biolink:NamedThing Cochliomyia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:20423 biolink:NamedThing SPATA7 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35471 biolink:NamedThing psychotropic drug A loosely defined grouping of drugs that have effects on psychological function. tmpte7i6ely_mondo_relaxed.owl psychotropic drugs|psychopharmaceuticals|psychoactive drugs|psychoactive agent owl:Class CHEBI:35470 biolink:NamedThing central nervous system drug A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system agents|CNS drugs|CNS agent owl:Class MONDO:0042486 biolink:NamedThing polyposis syndrome, hereditary mixed, 1 tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 15|HMPS1|colorectal adenoma and carcinoma 1|colorectal cancer, susceptibility to, 4|chromosome 15Q13-q14 Duplication syndrome, 40-Kb|polyposis syndrome, hereditary mixed, 1 OMIM:601228|Orphanet:157794|DOID:0111685 owl:Class MONDO:0011023 biolink:NamedThing hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. tmpte7i6ely_mondo_relaxed.owl HMPS|hereditary mixed polyposis syndrome MESH:C563365|ICD10:D12.6|OMIM:610069|OMIMPS:601228|OMIM:601228|Orphanet:157794|DOID:0111684|UMLS:CN240759 owl:Class GO:1903059 biolink:NamedThing regulation of protein lipidation Any process that modulates the frequency, rate or extent of protein lipidation. tmpte7i6ely_mondo_relaxed.owl regulation of lipid:protein modification|regulation of protein amino acid lipidation owl:Class MONDO:0007640 biolink:NamedThing Sorsby fundus dystrophy A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. tmpte7i6ely_mondo_relaxed.owl Sorsby fundus dystrophy|Sorsby's pseudoinflammatory macular dystrophy|fundus dystrophy, pseudoinflammatory, of Sorsby|SFD|macular dystrophy, hemorrhagic|Sorsby pseudoinflammatory fundus dystrophy|pseudoinflammatory fundus dystrophy of Sorsby|hemorrhagic macular dystrophy|Sorsby's fundus dystrophy ICD10:H35.5|OMIM:136900|GARD:0010511|DOID:0090114|SCTID:193410003|Orphanet:59181|OMIM:264420|MESH:C564992 owl:Class MONDO:0005122 biolink:NamedThing Pectobacterium carotovorum infection A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems). tmpte7i6ely_mondo_relaxed.owl Pectobacterium disease or disorder|Pectobacterium infectious disease|Pectobacterium caused disease or disorder EFO:0000781|Wikipedia:Pectobacterium_carotovorum owl:Class MONDO:0004516 biolink:NamedThing bulbomembranous urethral cancer tmpte7i6ely_mondo_relaxed.owl bulbomembranous urethral malignant neoplasm UMLS:C1511339|DOID:8259|NCIT:C39869 owl:Class MONDO:0014385 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A5 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene. tmpte7i6ely_mondo_relaxed.owl SLC24A4 amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA5|AI2A5|amelogenesis imperfecta hypomaturation type IIA5|amelogenesis imperfecta caused by mutation in SLC24A4|amelogenesis imperfecta type IIA5 Orphanet:100033|DOID:0110063|ICD10:K00.5|OMIM:615887|UMLS:C4014578 owl:Class MONDO:0007545 biolink:NamedThing Eosinophilopenia tmpte7i6ely_mondo_relaxed.owl Eosinophilopenia|eosinophil aplasia OMIM:131430|UMLS:C1851586 owl:Class GO:0048260 biolink:NamedThing positive regulation of receptor-mediated endocytosis Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpte7i6ely_mondo_relaxed.owl stimulation of receptor mediated endocytosis|positive regulation of receptor mediated endocytosis|up-regulation of receptor mediated endocytosis|up regulation of receptor mediated endocytosis|upregulation of receptor mediated endocytosis|activation of receptor mediated endocytosis owl:Class MONDO:0006900 biolink:NamedThing perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. tmpte7i6ely_mondo_relaxed.owl perirenal fat inflammation|inflammation of perirenal fat DOID:2982|MESH:D010501|EFO:1001099|SCTID:111404004|UMLS:C0031065|MedDRA:10072058 owl:Class UBERON:0005014 biolink:NamedThing mucosa of female urethra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009409 biolink:NamedThing hypervitaminosis a, susceptibility to tmpte7i6ely_mondo_relaxed.owl hypervitaminosis a, susceptibility to OMIM:240150 owl:Class UBERON:0018543 biolink:NamedThing lumen of intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000977 biolink:NamedThing chondroid lipoma A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. tmpte7i6ely_mondo_relaxed.owl ICDO:8862/0|NCIT:C6503|SCTID:404065000|UMLS:C1266131|DOID:10208 owl:Class MONDO:0100469 biolink:NamedThing anosmia, isolated congenital, X-linked X-linked form of anosmia, isolated congenital. tmpte7i6ely_mondo_relaxed.owl OMIM:301700 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3834 owl:Class MONDO:0016625 biolink:NamedThing acquired deficiency anemia An instance of deficiency anemia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl rare acquired deficiency anemia UMLS:CN226976|Orphanet:248302 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0001639 biolink:NamedThing deficiency anemia tmpte7i6ely_mondo_relaxed.owl deficiency anemias|unspecified deficiency anemia SCTID:267513007|ICD9:281.8|ICD9:281.9|UMLS:C0041782|DOID:13121 owl:Class MONDO:0012377 biolink:NamedThing asperger syndrome, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 4|ASPG4 OMIM:609954 owl:Class UBERON:0015479 biolink:NamedThing scrotum skin tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5948 biolink:NamedThing IGSF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006792 biolink:NamedThing hyperglobulinemic purpura Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. tmpte7i6ely_mondo_relaxed.owl EFO:1000972|MESH:D011694|UMLS:C0034151|SCTID:402852007|DOID:3325 owl:Class MONDO:0008380 biolink:NamedThing retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpte7i6ely_mondo_relaxed.owl RB|RB - retinoblastoma|retinoblastoma|retinoblastoma, malignant|eye cancer, retinoblastoma|RB1|Rb UMLS:C0035335|ICDO:9510/3|ONCOTREE:RBL|DOID:768|MESH:D012175|ICD10:C69.2|GARD:0007563|MedDRA:10038916|SCTID:370967009|NCIT:C7541|Orphanet:790|OMIM:180200 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class MONDO:0001693 biolink:NamedThing ego-dystonic sexual orientation A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. tmpte7i6ely_mondo_relaxed.owl DOID:13352|ICD9:302.0 owl:Class MONDO:0017488 biolink:NamedThing ulnar hemimelia, bilateral tmpte7i6ely_mondo_relaxed.owl ulnar longitudinal meromelia, bilateral Orphanet:295073|ICD10:Q71.5 owl:Class GO:0034404 biolink:NamedThing nucleobase-containing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpte7i6ely_mondo_relaxed.owl nucleobase, nucleoside and nucleotide synthesis|nucleobase, nucleoside and nucleotide formation|nucleobase, nucleoside and nucleotide anabolism|nucleobase, nucleoside and nucleotide biosynthesis owl:Class SO:0000010 biolink:NamedThing protein_coding A gene which, when transcribed, can be translated into a protein. tmpte7i6ely_mondo_relaxed.owl protein-coding owl:Class MONDO:0006065 biolink:NamedThing lactose intolerance adult type Adult onset lactose intolerance tmpte7i6ely_mondo_relaxed.owl adult lactase deficiency|hypolactasia, adult type|disaccharide intolerance 3|lactose intolerance, ADULT type EFO:1000063|Orphanet:319681|OMIM:223100 owl:Class MONDO:0004459 biolink:NamedThing bladder hepatoid adenocarcinoma A hepatoid adenocarcinoma that involves the urinary bladder. tmpte7i6ely_mondo_relaxed.owl bladder hepatoid adenocarcinoma UMLS:C1511189|NCIT:C39838|DOID:8097 owl:Class MONDO:0006243 biolink:NamedThing hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. tmpte7i6ely_mondo_relaxed.owl hepatoid carcinoma|hepatoid adenocarcinoma EFO:1000293|NCIT:C66950|ICDO:8576/3|DOID:0060534|UMLS:C1266090 owl:Class MONDO:0016319 biolink:NamedThing congenital insensitivity to pain with hyperhidrosis tmpte7i6ely_mondo_relaxed.owl congenital absence of pain with hyperhidrosis|congenital indifference to pain with hyperhidrosis|congenital analgesia with hyperhidrosis ICD10:G90.8|Orphanet:217399 owl:Class MONDO:0001841 biolink:NamedThing uterine corpus epithelioid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. tmpte7i6ely_mondo_relaxed.owl DOID:13951|UMLS:C1519850|NCIT:C40164 owl:Class HGNC:22932 biolink:NamedThing GMPPB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004274 biolink:NamedThing mixed epithelial/mesenchymal metaplastic breast carcinoma An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous. tmpte7i6ely_mondo_relaxed.owl breast carcinosarcoma|mixed type metaplastic breast cancer DOID:7541|ONCOTREE:MMBC|NCIT:C40364|UMLS:C1513365 owl:Class MONDO:0007136 biolink:NamedThing genetic anorectal anomalies tmpte7i6ely_mondo_relaxed.owl anorectal anomalies MESH:C567938|OMIM:107100|Orphanet:557 owl:Class MONDO:0013823 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 4B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|deafness, autosomal dominant 4B|autosomal dominant deafness 4B|DFNA4B|autosomal dominant nonsyndromic deafness type 4B|deafness, autosomal dominant type 4B|autosomal dominant nonsyndromic deafness 4B|CEACAM16 autosomal dominant nonsyndromic deafness DOID:0110574|UMLS:C3281297|OMIM:614614|ICD10:H90.3 owl:Class MONDO:0021636 biolink:NamedThing astrocytic tumor A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. tmpte7i6ely_mondo_relaxed.owl astrocytic neoplasm|astroglioma|astrocytic tumor|astrocytoma, no ICD-O subtype|astrocytoma of cerebrum|astrocytoma of brain|astrocytoma NCIT:C4951|EFO:0000272|Orphanet:94|OMIM:137800|DOID:3069|MESH:D001254|NCIT:C6958|SCTID:99131000119108|MedDRA:10003571 This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 owl:Class HGNC:11363 biolink:NamedThing STAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001504 biolink:NamedThing fetishism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish"). tmpte7i6ely_mondo_relaxed.owl NCIT:C94353|DOID:1235|ICD9:302.81|MESH:D005329|ICD10:F65.0|SCTID:59174009 owl:Class MONDO:0006888 biolink:NamedThing paraneoplastic polyneuropathy A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. tmpte7i6ely_mondo_relaxed.owl paraneoplastic polyneuropathy MESH:D020364|ICD9:357.3|NCIT:C3981|UMLS:C0270932|SCTID:77659000|DOID:8681|EFO:1001085|MedDRA:10062289 owl:Class UBERON:0010551 biolink:NamedThing pedal digit 5 metatarsal pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002440 biolink:NamedThing erythropoietin polycythemia Polycythemia that is caused by excess erythropoietin. tmpte7i6ely_mondo_relaxed.owl secondary polycythemia with excess erythropoietin|nephrogenous polycythemia|polycythemia due to excess erythopoetin production|polycythemia, nephrogenous|polycythaemia due to Excess erythropoetin production SCTID:367328005|UMLS:C0391869|ICD10:D75.1|DOID:2839|NCIT:C35434 owl:Class MONDO:0016541 biolink:NamedThing acquired secondary polycythemia An instance of secondary polycythemia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired secondary erythrocytosis|acquired secondary polycythemia Orphanet:238547|UMLS:C1318533|ICD10:D75.1 owl:Class HP:0030976 biolink:NamedThing Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpte7i6ely_mondo_relaxed.owl 2017-05-10 22:59:20+00:00 robinp human_phenotype owl:Class MONDO:0001816 biolink:NamedThing scleroperikeratitis tmpte7i6ely_mondo_relaxed.owl scleritis with corneal involvement ICD10:H15.04|ICD9:379.05|UMLS:C0155355|DOID:13861|SCTID:42574005 owl:Class MONDO:0016486 biolink:NamedThing beta-thalassemia major Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. tmpte7i6ely_mondo_relaxed.owl Beta thalassemia Major|Mediterranean anemia|Cooley's Anemia|Cooley anemia ICD10:D56.1|NCIT:C129699|OMIM:613985|SCTID:26682008|ICD9:282.49|Orphanet:231214 owl:Class HGNC:26724 biolink:NamedThing ANKS6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011318 biolink:NamedThing Tonoki syndrome tmpte7i6ely_mondo_relaxed.owl short stature, brachydactyly, nail dysplasia and intellectual disability|short stature, brachydactyly, nail dysplasia and mental retardation|Tonoki syndrome UMLS:C1863918|GARD:0010219|MESH:C536967|OMIM:603396 https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome owl:Class MONDO:0000330 biolink:NamedThing endemic typhus A bacterial infection caused by Rickettsia typhi. tmpte7i6ely_mondo_relaxed.owl urban typhus|endemic flea-borne typhus|Rickettsia felis spotted fever|cat flea rickettsiosis|murine typhus|rat-flea typhus|endemic typhus fever|urban typhus of Malaya|shop typhus|fleaborne typhus|toulon typhus NCIT:C84688|MESH:D014437|Orphanet:83315|MedDRA:10028282|UMLS:CN206047|DOID:0050481|ICD10:A75.2 owl:Class MONDO:0006244 biolink:NamedThing HER2 positive breast carcinoma A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). tmpte7i6ely_mondo_relaxed.owl ERBB2 Overexpressing subtype of breast carcinoma|HER2 Overexpressing subtype of breast carcinoma|HER2 Positive breast cancer|HER2 Overexpressing breast carcinoma|Her2-receptor positive breast cancer|HER2 positive breast carcinoma DOID:0060079|EFO:1000294|SCTID:427685000|UMLS:C1960398|NCIT:C53556 owl:Class MONDO:0019728 biolink:NamedThing heavy chain deposition disease tmpte7i6ely_mondo_relaxed.owl HCDD UMLS:CN206635|Orphanet:93556|NCIT:C7339|ICD10:D89.8|UMLS:C1333947 owl:Class MONDO:0016513 biolink:NamedThing alpha-thalassemia-related diseases This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).* tmpte7i6ely_mondo_relaxed.owl Orphanet:232288|UMLS:CN201534|ICD10:D56.0 owl:Class MONDO:0023235 biolink:NamedThing giant congenital nevus A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors. tmpte7i6ely_mondo_relaxed.owl congenital hairy nevus|bathing trunk nevus|giant pigmented hairy nevus|giant hairy nevus|large congenital melanocytic nevus|giant pigmented Nevus of the skin|GPHN|giant pigmented Nevus of skin|bathing trunk Nevus|giant congenital melanocytic nevus|congenital giant pigmented nevus|giant pigmented nevus|giant congenital Nevus ICDO:8761/1|SCTID:254815002|NCIT:C4234|GARD:0002469 https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus owl:Class NCBITaxon:5302 biolink:NamedThing Agaricomycotina tmpte7i6ely_mondo_relaxed.owl Hymenomycetes GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013774 biolink:NamedThing diaphysis of metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032739 biolink:NamedThing spermatogenic failure 36 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 36|SPGF36 OMIM:618420 owl:Class MONDO:0016783 biolink:NamedThing maternal 14q32.2 hypermethylation syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN202039|ICD10:Q99.8|Orphanet:254534 owl:Class MONDO:0005102 biolink:NamedThing undifferentiated (embryonal) sarcoma An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells. tmpte7i6ely_mondo_relaxed.owl UES|undifferentiated sarcoma|embryonal sarcoma (undifferentiated sarcoma)|sarcoma, undifferentiated, malignant|embryonal sarcoma, undifferentiated|undifferentiated (embryonal) sarcoma|embryonal sarcoma UMLS:C0855073|ICDO:8805/3|ICDO:8991/3|GARD:0008650|NCIT:C27096|EFO:0000730 owl:Class MONDO:0001452 biolink:NamedThing pseudoretinitis pigmentosa tmpte7i6ely_mondo_relaxed.owl secondary pigmentary degeneration of retina|secondary pigmentary retinal degeneration DOID:12162|UMLS:C0154858|SCTID:193396007|ICD10:H35.45|UMLS:C2053820|ICD9:362.65 owl:Class NCBITaxon:43801 biolink:NamedThing Ceratopogoninae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1113537 biolink:NamedThing Chlamydia/Chlamydophila group tmpte7i6ely_mondo_relaxed.owl PMID:21048222|GC_ID:11|PMID:11211265|PMID:21048221|PMID:10319462|PMID:23620152 ncbi_taxonomy owl:Class MONDO:0017222 biolink:NamedThing Pelizaeus-Merzbacher disease, classic form The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. tmpte7i6ely_mondo_relaxed.owl classic PMD Orphanet:280219|ICD10:E75.2|SCTID:87607002 owl:Class HGNC:14377 biolink:NamedThing NHP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016529 biolink:NamedThing duplication of urethra Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. tmpte7i6ely_mondo_relaxed.owl urethral duplication ICD10:Q64.7|SCTID:69015003|Orphanet:237|GARD:0001975|ICD9:753.8 https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra owl:Class MONDO:0014955 biolink:NamedThing retinal dystrophy with or without extraocular anomalies tmpte7i6ely_mondo_relaxed.owl RDEOA|retinal dystrophy with or without extraocular anomalies|retinal dystrophy with or without extraocular anomalies; RDEOA UMLS:C4310680|OMIM:617175 owl:Class MONDO:0001487 biolink:NamedThing intrahepatic bile duct cancer A cancer that involves the intrahepatic bile duct. tmpte7i6ely_mondo_relaxed.owl Ca intrahepatic bile ducts|malignant neoplasm of intrahepatic bile duct|malignant intrahepatic bile duct neoplasm|cancer of intrahepatic bile duct|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic biliary passages ICD9:155.1|DOID:12298|UMLS:C0546835|SCTID:187777008 owl:Class MONDO:0011199 biolink:NamedThing nephropathy, progressive tubulointerstitial, with cholestatic liver disease tmpte7i6ely_mondo_relaxed.owl nephropathy, progressive tubulointerstitial, with cholestatic liver disease UMLS:C1865831|OMIM:602114|Orphanet:171|MESH:C566573 owl:Class MONDO:0013433 biolink:NamedThing primary sclerosing cholangitis Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. tmpte7i6ely_mondo_relaxed.owl cholangitis, primary sclerosing|PSC GARD:0001280|OMIM:613806|Orphanet:171|DOID:0060643|MedDRA:10036732|SCTID:197441003|UMLS:C0566602|OMIM:602114|ICD10:K83.0 owl:Class MONDO:0025506 biolink:NamedThing porcine postweaning multisystemic wasting syndrome A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2. tmpte7i6ely_mondo_relaxed.owl postweaning multisystemic wasting syndrome, porcine UMLS:C1721016|MESH:D053570 owl:Class MONDO:0012013 biolink:NamedThing Weill-Marchesani syndrome 2, dominant A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. tmpte7i6ely_mondo_relaxed.owl GEMSS|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome, autosomal dominant|glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome|WMS2|Weill-Marchesani syndrome 2|GEMSS syndrome|Weill-Marchesani syndrome type 2|spherophakia-brachymorphia syndrome Orphanet:3449|ICD10:Q87.1|UMLS:C0265313|OMIM:608328|Orphanet:2084|SCTID:722450007|GARD:0002452 owl:Class HP:0002900 biolink:NamedThing Hypokalemia An abnormally decreased potassium concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Low blood potassium levels SNOMEDCT_US:43339004|UMLS:C0020621|MSH:D007008|SNOMEDCT_US:166690008 human_phenotype owl:Class MONDO:0017298 biolink:NamedThing acute zonal occult outer retinopathy Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy. tmpte7i6ely_mondo_relaxed.owl AZOOR GARD:0008640|SCTID:312929003|ICD9:362.10|Orphanet:284454|MESH:C538223|UMLS:C0730298 https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy owl:Class GO:0001934 biolink:NamedThing positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. tmpte7i6ely_mondo_relaxed.owl stimulation of protein amino acid phosphorylation|activation of protein amino acid phosphorylation|positive regulation of protein amino acid phosphorylation|up regulation of protein amino acid phosphorylation|upregulation of protein amino acid phosphorylation|up-regulation of protein amino acid phosphorylation owl:Class NCBITaxon:33278 biolink:NamedThing Ancylostomatidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020684 biolink:NamedThing Ehlers-Danlos syndrome, periodontal type 1 tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, periodontal type, 1|EDS 8|Ehlers-Danlos syndrome, periodontitis type|EDSPD1|Ehlers-Danlos syndrome, periodontosis type|Ehlers-Danlos syndrome, type 8 OMIM:130080 owl:Class HGNC:29040 biolink:NamedThing SZT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011454 biolink:NamedThing patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant. tmpte7i6ely_mondo_relaxed.owl patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies MESH:C565782|Orphanet:228190|OMIM:604381|ICD10:Q87.2|UMLS:C1858420 owl:Class GO:0016741 biolink:NamedThing transferase activity, transferring one-carbon groups Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor). tmpte7i6ely_mondo_relaxed.owl methyltransferase activity owl:Class CHEBI:22333 biolink:NamedThing alkylating agent Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:25435 biolink:NamedThing mutagen An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution. tmpte7i6ely_mondo_relaxed.owl mutagenos|mutagene|mutagenic agent|mutagenes|mutagens|mutageno owl:Class MONDO:0024529 biolink:NamedThing MVP1 tmpte7i6ely_mondo_relaxed.owl mitral valve prolapse, familial|click-murmur syndrome|PMV|mitral regurgitation, familial|barlow syndrome|myxomatous valvular disease, familial|mitral valve prolapse, myxomatous 1|mitral valve prolapse, familial, X-linked|mitral valve prolapse 1|MVP1|myxomatous mitral valve prolapse 1|floppy mitral valve|prolapsed mitral valve UMLS:CN074267|Orphanet:741|GARD:0003688|OMIM:157700 owl:Class MONDO:0008004 biolink:NamedThing familial mitral valve prolapse An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl mitral valve prolapse, familial|hereditary mitral valve prolapse (disease)|MVP|mitral valve prolapse, familial, autosomal dominant OMIMPS:157700|OMIM:157700|OMIM:607829|GARD:0003687|SCTID:233858000|OMIM:610840|Orphanet:741|ICD10:I34.1 owl:Class UBERON:0010150 biolink:NamedThing duct of major vestibular gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008529 biolink:NamedThing T-cell Subgroups, non-HLA-linked tmpte7i6ely_mondo_relaxed.owl T-cell Subgroups, non-HLA-linked OMIM:186950 owl:Class MONDO:0003670 biolink:NamedThing posteroinferior myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart. tmpte7i6ely_mondo_relaxed.owl posteroinferior myocardial infarction by ECG finding|posteroinferior myocardial infarction by EKG finding NCIT:C36068|DOID:5843 Editor note: TODO: positional superclass owl:Class HGNC:171 biolink:NamedThing ACVR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3176 biolink:NamedThing EDN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013138 biolink:NamedThing vertigo, benign recurrent, 2 tmpte7i6ely_mondo_relaxed.owl vertigo, benign recurrent, 2|BRV2 UMLS:C2751289|OMIM:613106|MESH:C567749 owl:Class UBERON:0005282 biolink:NamedThing ventricular system of brain tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0000803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030473 biolink:NamedThing developmental and epileptic encephalopathy 99 tmpte7i6ely_mondo_relaxed.owl DEE99 OMIM:619606 owl:Class MONDO:0020710 biolink:NamedThing amnionitis Inflammation of the amnion. tmpte7i6ely_mondo_relaxed.owl infection of amniotic cavity|amniotic infection syndrome|Infection of amniotic cavity|amniotic cavity infection|amnionitides|amnionitis SCTID:10573002|NCIT:C50459|UMLS:C0002631|ICD9:658.40 https://github.com/monarch-initiative/mondo/issues/2016 owl:Class MONDO:0017826 biolink:NamedThing null pituitary adenoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN203796|Orphanet:314790|ICD10:D35.2 owl:Class MONDO:0013541 biolink:NamedThing complex cortical dysplasia with other brain malformations 1 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene. tmpte7i6ely_mondo_relaxed.owl CDCBM1|cortical dysplasia, complex, with other brain malformations 1|complex cortical dysplasia with other brain malformations type 1|cortical dysplasia, Complex, with Other brain malformations type 1|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation|TUBB3 complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations caused by mutation in TUBB3 DOID:0090137|OMIM:614039|UMLS:CN203402|ICD10:Q04.3|Orphanet:300570|GARD:0013032 owl:Class CHEBI:65256 biolink:NamedThing antimicrobial food preservative A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). tmpte7i6ely_mondo_relaxed.owl antimicrobial food preservatives|antimicrobial preservatives|antimicrobial preservative owl:Class MONDO:0100395 biolink:NamedThing acute myeloid leukemia, t(5;11)(q35;p15) Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.) tmpte7i6ely_mondo_relaxed.owl AML, t(5;11)(q35;p15) NCIT:C131503|NCIT:C131502 owl:Class GO:0048515 biolink:NamedThing spermatid differentiation The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpte7i6ely_mondo_relaxed.owl spermatid cell differentiation owl:Class MONDO:0000781 biolink:NamedThing cherry allergy A fruit allergy triggered by Prunus avium plant fruit food product. tmpte7i6ely_mondo_relaxed.owl Prunus avium fruit allergy DOID:0060506 owl:Class UBERON:0010842 biolink:NamedThing calcaneum cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016045 biolink:NamedThing tetragametic chimerism Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. tmpte7i6ely_mondo_relaxed.owl 46,XX/46,XY chimerism UMLS:CN200724|Orphanet:199310|ICD10:Q99.0 owl:Class GO:1903715 biolink:NamedThing regulation of aerobic respiration Any process that modulates the frequency, rate or extent of aerobic respiration. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010433 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 15 tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 15|SLEB15 OMIM:300809 owl:Class MONDO:0003439 biolink:NamedThing urinary bladder villous adenoma An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl bladder villous adenoma|villous adenoma of the urinary bladder|urinary bladder villous adenoma|villous adenoma of urinary bladder UMLS:C1336893|NCIT:C7414|DOID:5427 owl:Class MONDO:0011639 biolink:NamedThing Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. tmpte7i6ely_mondo_relaxed.owl RPS28 Diamond-Blackfan anemia|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis|DBA15|Diamond-Blackfan anemia caused by mutation in RPS28 Orphanet:124|OMIM:606164|UMLS:C4225411|UMLS:C1853576 Not in the OMIM series 105650. owl:Class MONDO:0032607 biolink:NamedThing vertebral anomalies and variable endocrine and T-cell dysfunction tmpte7i6ely_mondo_relaxed.owl VETD|VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION OMIM:618223|DOID:0070345 owl:Class MONDO:0035117 biolink:NamedThing PUM1-associated developmental disability-ataxia-seizure syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:589515 owl:Class MONDO:0004651 biolink:NamedThing smallpox A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. tmpte7i6ely_mondo_relaxed.owl Variola virus disease or disorder|Variola virus caused disease or disorder|Variola|variola virus infection|Variola virus infectious disease|variola virus VAR infection|smallpox virus infection|ordinary smallpox DOID:8736|NCIT:C35027|UMLS:C0037354|ICD10:B03|ICD9:050|GARD:0007444|ICD9:050.9|SCTID:47452006|SCTID:67924001|MESH:D012899 https://rarediseases.info.nih.gov/diseases/7444/smallpox owl:Class HGNC:791 biolink:NamedThing ATF6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013483 biolink:NamedThing obesity, hyperphagia, and developmental delay tmpte7i6ely_mondo_relaxed.owl OBHD|obesity, hyperphagia, and developmental delay OMIM:613886|UMLS:C3151303|MESH:C563938 owl:Class MONDO:0009992 biolink:NamedThing myoglobinuria, acute recurrent, autosomal recessive tmpte7i6ely_mondo_relaxed.owl myoglobinuria, acute recurrent, autosomal recessive|myoglobinuria, familial paroxysmal paralytic|rhabdomyolysis, acute recurrent OMIM:268200|MESH:C564832|Orphanet:99845|UMLS:C1849386 owl:Class MONDO:0004236 biolink:NamedThing duodenal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures. tmpte7i6ely_mondo_relaxed.owl duodenal somatostatin-producing neuroendocrine tumor|duodenal somatostatin producing tumor|duodenal delta cell somatostatin producing tumor|duodenal somatostatin-producing NET|duodenal somatostatinoma DOID:7479|NCIT:C27407|UMLS:C1333320 owl:Class MONDO:0019676 biolink:NamedThing brachydactyly type B A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons. tmpte7i6ely_mondo_relaxed.owl ICD10:Q73.8|GARD:0000985|Orphanet:93383|OMIM:113000|UMLS:C1300267|SCTID:389168002 https://github.com/monarch-initiative/mondo/issues/3709 owl:Class MONDO:0001578 biolink:NamedThing hernia of ovary and fallopian tube tmpte7i6ely_mondo_relaxed.owl ICD9:620.4|DOID:12735|ICD10:N83.4 Editor note: consider obsoleting (should be finding/phenotype) owl:Class CHEBI:75768 biolink:NamedThing mammalian metabolite Any animal metabolite produced during a metabolic reaction in mammals. tmpte7i6ely_mondo_relaxed.owl mammalian metabolites owl:Class MONDO:0011297 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 2 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nocturnal frontal lobe epilepsy type 2|nocturnal frontal lobe epilepsy 2|ENFL2|epilepsy, nocturnal frontal lobe, 2 MESH:C566400|OMIM:603204|Orphanet:98784|DOID:0060683|UMLS:C1864125 owl:Class CL:0000703 biolink:NamedThing sustentacular cell Cell that provides some or all mechanical, nutritional and phagocytic support to their neighbors. tmpte7i6ely_mondo_relaxed.owl BTO:0002315 cell owl:Class HP:0010668 biolink:NamedThing Abnormality of the zygomatic bone An abnormality of the zygomatic bone. tmpte7i6ely_mondo_relaxed.owl Anomaly of the zygomatic bone|Deformity of the zygomatic bone|Abnormality of the cheekbone|Deformity of the cheekbone|Malformation of the zygomatic bone UMLS:C4023749 peter 2010-02-26T08:13:11Z human_phenotype owl:Class MONDO:0004640 biolink:NamedThing alcoholic gastritis Inflammation of the stomach resulting from alcohol ingestion. tmpte7i6ely_mondo_relaxed.owl alcoholic gastritis, without mention of hemorrhage|alcoholic gastritis, with hemorrhage|alcoholic gastritis ICD9:535.3|ICD9:535.30|ICD10:K29.2|SCTID:2043009|NCIT:C26977|DOID:8680|UMLS:C0156076 owl:Class NCBITaxon:2497570 biolink:NamedThing Haploviricotina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019452 biolink:NamedThing myeloproliferative neoplasm, unclassifiable This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms. tmpte7i6ely_mondo_relaxed.owl unclassifiable chronic myeloproliferative disease|undifferentiated myeloproliferative disease|CMPD-U|CMPD, U|unclassifiable chronic myeloproliferative disorder|chronic myeloproliferative disorder, unclassifiable|myeloproliferative neoplasm, unclassifiable|MPN-U|MPN, U|chronic myeloproliferative disease, unclassifiable ICDO:9975/3|NCIT:C27350|Orphanet:86830|UMLS:C1333046|OMIM:131440|ICD10:D47.1 owl:Class UBERON:0034670 biolink:NamedThing palatal taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034722 biolink:NamedThing mouth roof taste bud tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009971 biolink:NamedThing newborn respiratory distress syndrome Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts. tmpte7i6ely_mondo_relaxed.owl pulmonary hypoperfusion syndrome of newborn|syndrome Of newborns (RDS), respiratory distress|IRDS|RDS - infants|NRDS|hyaline Membrane disease, formerly|RDS of prematurity|infant respiratory distress syndrome|respiratory distress syndrome Of newborns (RDS)|pulmonary hyaline membrane disease|respiratory distress syndrome Of newborns|neonatal respiratory distress|RDS, respiratory distress syndrome Of newborns|respiratory distress syndrome in the newborn|RDS Of newborns|hyaline Membrane disease|respiratory distress syndrome, infant|HMD - hyaline membrane disease|infant acute respiratory distress syndrome|RDS|newborns (RDS), respiratory distress syndrome Of|respiratory distress syndrome in premature infants|respiratory distress syndrome of newborn|respiratory distress syndrome|hyaline membrane disease|infantile respiratory distress syndrome|infant ARDS|neonatal respiratory distress syndrome ICD10:P22.0|UMLS:C1968593|SCTID:46775006|GARD:0000112|DOID:12716|Orphanet:70587|OMIM:267450|NCIT:C27560|ICD9:769|EFO:1000644|UMLS:C0035220|UMLS:C0020192 owl:Class HGNC:473 biolink:NamedThing AMT tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001265 biolink:NamedThing miRNA_gene A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression. tmpte7i6ely_mondo_relaxed.owl miRNA gene|stRNA gene|stRNA_gene owl:Class CHEBI:25389 biolink:NamedThing monohydroxybenzoic acid Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring. tmpte7i6ely_mondo_relaxed.owl monohydroxybenzoic acids owl:Class GO:1901374 biolink:NamedThing acetate ester transport The directed movement of an acetate ester into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010566 biolink:NamedThing X-linked cone-rod dystrophy 1 tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy, X-linked, type 1|cone dystrophy 1, X-linked|X-linked cone dystrophy 1|COD1|cone dystrophy X-linked 1|cone-rod dystrophy X-linked 1|CORDX1|X-linked cone-rod dystrophy type 1|cone-rod dystrophy, X-linked, 1 OMIM:304020|MESH:C564438|DOID:0111008|Orphanet:1872|GARD:0010652 https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1 owl:Class MONDO:0005223 biolink:NamedThing acute myeloid leukemia with minimal differentiation An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl M0 acute myelogenous leukemia|AML M0|acute myelogenous leukemia with minimal differentiation|M0 myeloid leukemia|acute myelocytic leukemia with minimal differentiation|minimally differentiated acute myeloblastic leukemia|acute myeloblastic leukemia, minimally differentiated|acute myeloid leukemia with minimal differentiation (MO)|M0 acute granulocytic leukemia|AMLMD|AML with minimal differentiation|acute myeloid leukemia with minimal differentiation|M0 acute myelogenous leukemia with minimal differentiation|M0 acute myeloblastic leukemia|acute myeloid leukemia, minimally differentiated|M0 acute granulocytic leukemia with minimal differentiation|M0 acute myelocytic leukemia|M0 myeloid leukemia with minimal differentiation|acute myeloblastic leukemia with minimal differentiation ICDO:9872/3|Orphanet:98832|NCIT:C8460|EFO:0003026|ICD10:C92.0|ONCOTREE:AMLMD|UMLS:C0522631 MONDO:0020318 owl:Class MONDO:0001899 biolink:NamedThing rheumatic congestive heart failure tmpte7i6ely_mondo_relaxed.owl congestive rheumatic heart failure|rheumatic heart failure (congestive)|rheumatic heart failure UMLS:C0155582|SCTID:82523003|DOID:14172|ICD10:I09.81|ICD9:398.91 owl:Class NCBITaxon:6187 biolink:NamedThing Schistosoma intercalatum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013162 biolink:NamedThing right lateral ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019197 biolink:NamedThing folinic acid-responsive seizures Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. tmpte7i6ely_mondo_relaxed.owl Folinic acid responsive seizures SCTID:717276003|UMLS:CN205780|ICD10:G40.3|Orphanet:79097 Editor note: TODO request from CHEBI owl:Class GO:0002377 biolink:NamedThing immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl immunoglobulin biosynthetic process|antibody production|immunoglobulin secretion owl:Class UBERON:0005012 biolink:NamedThing mucosa of left uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010301 biolink:NamedThing Spinal dysraphism A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. tmpte7i6ely_mondo_relaxed.owl Incomplete closure of the vertebral arch MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. peter 2009-07-12T12:58:04Z human_phenotype owl:Class MONDO:0016201 biolink:NamedThing qualitative or quantitative defects of myotilin tmpte7i6ely_mondo_relaxed.owl Orphanet:209224 owl:Class NCBITaxon:10244 biolink:NamedThing Monkeypox virus tmpte7i6ely_mondo_relaxed.owl monkey pox virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0600017 biolink:NamedThing acinar dysplasia caused by mutation in FGF10 Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. tmpte7i6ely_mondo_relaxed.owl FGF10 acinar dysplasia|FGF10 related acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0022790 biolink:NamedThing cleft tongue tmpte7i6ely_mondo_relaxed.owl bifid tongue|cleft tongue syndrome GARD:0001395 https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue owl:Class MONDO:0007939 biolink:NamedThing malignant hyperthermia, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl malignant hyperpyrexia susceptibility type 2|MHS2|malignant hyperthermia susceptibility type 2|malignant hyperthermia, susceptibility to, type 2|Mhs2|malignant hyperthermia, susceptibility to, 2 OMIM:154275|GARD:0003364|Orphanet:423|MESH:C535695 https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 owl:Class MONDO:0004152 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. tmpte7i6ely_mondo_relaxed.owl chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation|CLL/SLL with IGVH SHM|postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma DOID:7230|NCIT:C37201|UMLS:C1333037 owl:Class MONDO:0003864 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. tmpte7i6ely_mondo_relaxed.owl CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|chronic lymphocytic leukemia/small lymphocytic lymphoma NCIT:C27911|ICDO:9823/3|ONCOTREE:CLLSLL|UMLS:C1302547|DOID:6354 owl:Class MONDO:0003586 biolink:NamedThing esophagus liposarcoma A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. tmpte7i6ely_mondo_relaxed.owl liposarcoma of the esophagus|esophageal liposarcoma|liposarcoma of esophagus|esophagus liposarcoma DOID:5694|NCIT:C5705|UMLS:C1333456 owl:Class HGNC:8066 biolink:NamedThing NUP62 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015357 biolink:NamedThing secondary hypoparathyroidism due to impaired parathormon secretion tmpte7i6ely_mondo_relaxed.owl UMLS:CN242104|ICD10:E20.8|Orphanet:140286 owl:Class UBERON:0003913 biolink:NamedThing tooth-like structure tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071626 biolink:NamedThing mastication The process of biting and mashing food with the teeth prior to swallowing. tmpte7i6ely_mondo_relaxed.owl chewing owl:Class UBERON:0002294 biolink:NamedThing biliary system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004642 biolink:NamedThing third ventricle ependyma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005259 biolink:NamedThing lower leg mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014943 biolink:NamedThing mitochondrial DNA depletion syndrome 15 (hepatocerebral type); Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial DNA depletion syndrome 15 (hepatocerebral type)|mitochondrial DNA depletion syndrome caused by mutation in TFAM|MTDPS15|TFAM mitochondrial DNA depletion syndrome DOID:0080337|UMLS:C4310690|OMIM:617156 owl:Class HGNC:11741 biolink:NamedThing TFAM tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030764 biolink:NamedThing Ochronosis Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. tmpte7i6ely_mondo_relaxed.owl MSH:D009794|SNOMEDCT_US:410042009|UMLS:C0028817 human_phenotype owl:Class HGNC:8818 biolink:NamedThing SLC26A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017157 biolink:NamedThing pulmonary hypertension owing to lung disease and/or hypoxia tmpte7i6ely_mondo_relaxed.owl PH owing to lung disease and/or hypoxia|PH due to lung disease and/or hypoxia|pulmonary hypertension due to lung disease and/or hypoxia SCTID:697910001|ICD9:416.8|ICD10:I27.2|Orphanet:275837|UMLS:C3698136|UMLS:CN202580 owl:Class HGNC:20324 biolink:NamedThing TGDS tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18243 biolink:NamedThing RCBTB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014253 biolink:NamedThing autoimmune lymphoproliferative syndrome type 3 A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl ALPS3|PRKCD autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 3|autoimmune lymphoproliferative syndrome type III|immunodeficiency, common variable, 9|ALPS-U|autoimmune lymphoproliferative syndrome, type III|common variable immunodeficiency 9|CVID9|type 3 ALPS|immunodeficiency, common variable, 9, formerly|autoimmune lymphoproliferative syndrome-undetermined variant|type 3 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD 2022-04-01 Orphanet:3261|OMIM:615559|UMLS:C1519711|NCIT:C39577|UMLS:C3809928|ICD10:D47.9|DOID:0110119 This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be MONDO:800023 (Type 3 Autoimmune Lymphoproliferative Syndrome) and MONDO:800024 (autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD). owl:Class HGNC:9399 biolink:NamedThing PRKCD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001410 biolink:NamedThing postmenopausal atrophic vaginitis Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause. tmpte7i6ely_mondo_relaxed.owl senile vaginitis|atrophic vaginitis EFO:1001271|UMLS:C0156409|SCTID:52441000|MESH:D059268|ICD9:627.3|ICD10:N95.2|DOID:11968|UMLS:C0221392 owl:Class MONDO:0014113 biolink:NamedThing cardiofaciocutaneous syndrome 3 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene. tmpte7i6ely_mondo_relaxed.owl CFC3|cardiofaciocutaneous syndrome caused by mutation in MAP2K1|cardiofaciocutaneous syndrome 3|cardiofaciocutaneous syndrome type 3|MAP2K1 cardiofaciocutaneous syndrome OMIM:615279|UMLS:C3809006|Orphanet:1340|DOID:0111462 owl:Class MONDO:0022650 biolink:NamedThing cardiomyopathy diabetes deafness tmpte7i6ely_mondo_relaxed.owl GARD:0001103 https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness owl:Class N74d9f7e7c6724828bece3d8606585ba8 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005142 biolink:NamedThing Pseudomonas aeruginosa CF5 infection A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. tmpte7i6ely_mondo_relaxed.owl EFO:0001077 owl:Class NCBITaxon:1402491 biolink:NamedThing Pseudomonas aeruginosa CF5 tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:4867 biolink:NamedThing HERC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001878 biolink:NamedThing acquired hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired hypertrophic pyloric stenosis|adult hypertrophic pyloric stenosis|acquired gastric outlet stenosis SCTID:266438007|ICD9:537.0|UMLS:C2937286|DOID:14099 owl:Class MONDO:0010564 biolink:NamedThing red-green color blindness Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. tmpte7i6ely_mondo_relaxed.owl Deuteranomaly|deuteranopia|colorblindness, partial, DEUTAN series|Deutan colorblindness|partial achromatopsia, deutan type|Deutan defect|reduced red-green discrimination|CBD|Green colorblindness OMIM:303800|UMLS:C0155016|DOID:13909|Orphanet:319698|OMIM:303900|ICD10:H53.53|ICD9:368.52|SCTID:77479002|EFO:0005581 owl:Class MONDO:0010703 biolink:NamedThing ornithine carbamoyltransferase deficiency Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. tmpte7i6ely_mondo_relaxed.owl OTCD|ornithine transcarbamylase deficiency, hyperammonemia due to|valproate sensitivity|OTC deficiency|ornithine transcarbamylase deficiency|ornithine carbamoyltransferase deficiency|deficiency of citrulline phosphorylase|ornithine carbamoyltransferase deficiency disease|OCT deficiency OMIM:311250|MESH:D020163|EFO:0007409|DOID:9271|MedDRA:10052450|ICD10:E72.4|NCIT:C84957|UMLS:C0268542|GARD:0008391|SCTID:80908008|Orphanet:664 owl:Class HGNC:8512 biolink:NamedThing OTC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008660 biolink:NamedThing autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. tmpte7i6ely_mondo_relaxed.owl autosomal dominant hereditary hypophosphatemic rickets|autosomal dominant hypophosphatemic rickets|autosomal dominant hypophosphatemia|hypophosphatemia, autosomal dominant|vitamin D-resistant rickets, autosomal dominant|hypophosphatemic rickets, autosomal dominant|ADHR|hereditary hypophosphatemic rickets, autosomal dominant Orphanet:89937|SCTID:237889002|DOID:0050948|OMIM:193100|MESH:C562791|UMLS:C0342642|ICD10:E83.3 owl:Class MONDO:0020728 biolink:NamedThing hypouricemia, renal 1 tmpte7i6ely_mondo_relaxed.owl renal hypouricemia|hypouricemia, renal, 1|hypouricemia, renal, type 1|Dalmatian hypouricemia|RHUC1 OMIM:220150|UMLS:C0473219|Orphanet:94088 owl:Class HGNC:17989 biolink:NamedThing SLC22A12 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001892 biolink:NamedThing rhombomere tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000142 biolink:NamedThing 48-year-old human stage Middle aged stage that refers to an adult who is over 48 and under 49. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014304 biolink:NamedThing hereditary spastic paraplegia 61 A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. tmpte7i6ely_mondo_relaxed.owl autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|autosomal recessive spastic paraplegia type 61|autosomal recessive spastic paraplegia 61|spastic paraplegia 61, autosomal recessive|SPG61|ARL6IP1 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 61|hereditary spastic paraplegia 61 SCTID:726611001|OMIM:615685|UMLS:C3810294|UMLS:C4511962|ICD10:G11.4|DOID:0110812|Orphanet:401780 owl:Class HGNC:697 biolink:NamedThing ARL6IP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012868 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal dominant Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency. tmpte7i6ely_mondo_relaxed.owl THPH5|protein S acquired deficiency|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency|thrombophilia due to protein S deficiency, autosomal dominant OMIM:612336|Orphanet:26349|MedDRA:10068370|MESH:C567077|Orphanet:743|UMLS:C3278211|ICD10:D68.8 Note that ORDO appears to classify as hereditary and acquired. owl:Class MONDO:0012684 biolink:NamedThing arrhythmogenic right ventricular dysplasia 12 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene. tmpte7i6ely_mondo_relaxed.owl JUP familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia type 12|arrhythmogenic right ventricular dysplasia, familial, 12|ARVD12|arrhythmogenic right ventricular dysplasia, familial, type 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP|familial arrhythmogenic right ventricular dysplasia 12|ARVC12|arrhythmogenic right ventricular cardiomyopathy 12|arrhythmogenic right ventricular dysplasia 12 ICD10:I42.8|OMIM:611528|MESH:C566925|UMLS:C1969081|Orphanet:217656|DOID:0110083 owl:Class HGNC:6207 biolink:NamedThing JUP tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0100026 biolink:NamedThing positive regulation of DNA repair by transcription from RNA polymerase II promoter Any transcription from RNA polymerase II promoter process that positively regulates DNA repair. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5389 biolink:NamedThing IDS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410004 biolink:NamedThing small intestine arteriole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014710 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive primary immunodeficiency due to RORC mutation|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|IMD42|autosomal recessive MSMD due to complete RORgamma receptor defiency|immunodeficiency type 42|immunodeficiency 42|RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Orphanet:477857|UMLS:C4225266|OMIM:616622 owl:Class MONDO:0013388 biolink:NamedThing developmental and epileptic encephalopathy, 11 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene. tmpte7i6ely_mondo_relaxed.owl SCN2A early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SCN2A|EIEE11|epileptic encephalopathy, early infantile, 11|DEE11|epileptic encephalopathy, early infantile, type 11 OMIM:613721|UMLS:C3150987|DOID:0080421 owl:Class GO:0120316 biolink:NamedThing sperm flagellum assembly The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium). tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071753 biolink:NamedThing IgM immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008256 biolink:NamedThing left clavicle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10057 biolink:NamedThing RNF13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015739 biolink:NamedThing adult-onset nemaline myopathy Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. tmpte7i6ely_mondo_relaxed.owl GARD:0012824|Orphanet:171442|UMLS:C0546123|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy owl:Class MONDO:0005971 biolink:NamedThing staphyloenterotoxemia Food poisoning that is caused by Staphylococcal infection. tmpte7i6ely_mondo_relaxed.owl staphylococcal toxaemia due to food|staphyloenterotoxicosis|staphylococcal food poisoning EFO:0007497|GARD:0009559|DOID:96|ICD9:005.0|ICD10:A05.0|SCTID:84622004|UMLS:C0038159|NCIT:C35037|MESH:D013202 owl:Class UBERON:0010384 biolink:NamedThing lumen of laryngopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0800001 biolink:NamedThing delayed sleep phase syndrome, susceptibility to An inherited susceptibility or predisposition to developing delayed sleep phase syndrome. tmpte7i6ely_mondo_relaxed.owl OMIM:614163 http://orcid.org/0000-0001-8314-2140 https://github.com/monarch-initiative/mondo/issues/2863 owl:Class UBERON:0007105 biolink:NamedThing vitelline duct tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001943 biolink:NamedThing Hypoglycemia A decreased concentration of glucose in the blood. tmpte7i6ely_mondo_relaxed.owl Hypoglycaemia|Low blood sugar SNOMEDCT_US:271327008|SNOMEDCT_US:302866003|UMLS:C0020615|MSH:D007003|SNOMEDCT_US:237630007 HP:0003356 human_phenotype owl:Class GO:0007586 biolink:NamedThing digestion The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002754 biolink:NamedThing Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. tmpte7i6ely_mondo_relaxed.owl Bone infection SNOMEDCT_US:111253001|MSH:D010019|UMLS:C2242472|UMLS:C0029443|SNOMEDCT_US:60168000 Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. HP:0005901|HP:0002755 human_phenotype owl:Class MONDO:0021752 biolink:NamedThing Achard-Thiers syndrome Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women tmpte7i6ely_mondo_relaxed.owl Achard Thiers syndrome|diabetic-bearded woman syndrome|diabetes in bearded women MESH:C536013|SCTID:34041001|GARD:0005709|UMLS:C0271732 https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome owl:Class HGNC:11799 biolink:NamedThing THRB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005432 biolink:NamedThing aortic sac tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024656 biolink:NamedThing colorectal lymphoma An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas. tmpte7i6ely_mondo_relaxed.owl lymphoma of large intestine|primary colorectal lymphoma|large intestine lymphoma|large intestinal lymphoma|colorectal lymphoma NCIT:C96498|UMLS:C3272822 owl:Class MONDO:0014220 biolink:NamedThing myopathy due to myoadenylate deaminase deficiency tmpte7i6ely_mondo_relaxed.owl myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|AMPD1 deficiency|adenosine monophosphate deaminase deficiency|MMDD|myopathy due to myoadenylate deaminase deficiency|AMP deaminase 1 deficiency|myoadenylate deaminase deficiency|adenosine monophosphate deaminase 1 deficiency|AMP deaminase deficiency GARD:0000547|OMIM:615511|Orphanet:45 https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency owl:Class HGNC:468 biolink:NamedThing AMPD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013400 biolink:NamedThing Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. tmpte7i6ely_mondo_relaxed.owl XY sex reversal-adrenal failure|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|cholesterol side-chain cleavage deficiency|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|XY sex reversal-adrenal failure syndrome|p450scc deficiency ICD10:Q56.1|OMIM:613743|Orphanet:168558|MESH:C566130|DOID:0050546|NCIT:C131422|UMLS:C3151055 owl:Class UBERON:0001632 biolink:NamedThing temporal artery tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001569 biolink:NamedThing hippocampal interneuron An interneuron of the hippocampus. tmpte7i6ely_mondo_relaxed.owl FMA:84777 cl owl:Class N92fb527cfc9046eab86372a295168ffa biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010773 biolink:NamedThing myopathy and diabetes mellitus tmpte7i6ely_mondo_relaxed.owl mitochondrial myopathy, lipid type|mitochondrial myopathy with diabetes ICD10:G71.3|UMLS:C1839028|GARD:0003881|MESH:C564026|Orphanet:2596|OMIM:500002 owl:Class HGNC:12649 biolink:NamedThing VAPB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060235 biolink:NamedThing lens induction in camera-type eye Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011234 biolink:NamedThing auriculocondylar syndrome 1 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene. tmpte7i6ely_mondo_relaxed.owl ARCND1|Auriculocondylar syndrome 1|Auriculocondylar syndrome type 1|auriculocondylar syndrome caused by mutation in GNAI3|AURICULOCONDYLAR syndrome 1|question Mark ears syndrome|GNAI3 auriculocondylar syndrome Orphanet:137888|UMLS:C1865295|OMIM:602483 owl:Class MONDO:0011852 biolink:NamedThing nonsyndromic congenital nail disorder 8 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene. tmpte7i6ely_mondo_relaxed.owl inherited isolated nail anomaly caused by mutation in COL7A1|NDNC8|COL7A1 inherited isolated nail anomaly|nonsyndromic congenital nail disorder type 8|nail disorder, nonsyndromic congenital, type 8|toenail dystrophy, isolated|nail disorder, nonsyndromic congenital, 8 MESH:C564384|OMIM:607523|DOID:0080086|UMLS:C1843761 owl:Class HP:0002633 biolink:NamedThing Vasculitis Inflammation of blood vessel. tmpte7i6ely_mondo_relaxed.owl Inflammation of blood vessel|Angiitis SNOMEDCT_US:31996006|MSH:D014657|UMLS:C0042384 human_phenotype owl:Class HGNC:12872 biolink:NamedThing ZIC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036290 biolink:NamedThing myocardium of anterior wall of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036288 biolink:NamedThing anterior wall of left ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000014 biolink:NamedThing fibroblast of upper leg skin Any skin fibroblast that is part of a upper leg skin. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:19:44Z cell owl:Class MONDO:0021528 biolink:NamedThing benign neoplasm of male breast A non-metastasizing neoplasm that arises from the breast parenchyma in males. tmpte7i6ely_mondo_relaxed.owl benign tumor of the Male breast|male breast benign neoplasm|benign Male breast tumor|benign tumor of Male breast|benign Male breast neoplasm|benign neoplasm of the Male breast NCIT:C4620|UMLS:C0347482|SCTID:92206006 owl:Class MONDO:0011912 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 37 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. tmpte7i6ely_mondo_relaxed.owl DFNB37|deafness, autosomal recessive type 37|autosomal recessive nonsyndromic deafness 37|autosomal recessive nonsyndromic deafness caused by mutation in MYO6|autosomal recessive nonsyndromic deafness type 37|autosomal recessive deafness 37|deafness, autosomal recessive 37|MYO6 autosomal recessive nonsyndromic deafness OMIM:607821|MESH:C564331|ICD10:H90.3|DOID:0110495|UMLS:C1843028 owl:Class MONDO:0013350 biolink:NamedThing mitochondrial DNA depletion syndrome 4b tmpte7i6ely_mondo_relaxed.owl MTDPS4B|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|mitochondrial DNA depletion syndrome 4B (MNGIE type)|mitochondrial DNA depletion syndrome type 4b|Mngie, Polg-related UMLS:C3150914|Orphanet:298|DOID:0080123|OMIM:613662 owl:Class MONDO:0013380 biolink:NamedThing LEOPARD syndrome 3 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene. tmpte7i6ely_mondo_relaxed.owl leopard syndrome 3|Noonan syndrome with multiple lentigines caused by mutation in BRAF|LEOPARD syndrome 3|LPRD3|BRAF Noonan syndrome with multiple lentigines|Leopard syndrome type 3 DOID:0080550|OMIM:613707|Orphanet:500|UMLS:C3150971 owl:Class HGNC:22938 biolink:NamedThing NLRP12 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004232 biolink:NamedThing lymphatic vessel smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014458 biolink:NamedThing Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. tmpte7i6ely_mondo_relaxed.owl Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young|FRTS4|Fanconi syndrome caused by mutation in HNF4A|HNF4A Fanconi syndrome|FRTS4 with MODY Orphanet:93111|UMLS:C4014962|OMIM:616026 owl:Class HGNC:5024 biolink:NamedThing HNF4A tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001023 biolink:NamedThing radiation A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903797 biolink:NamedThing positive regulation of inorganic anion transmembrane transport Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport. tmpte7i6ely_mondo_relaxed.owl upregulation of inorganic anion membrane transport|positive regulation of transmembrane inorganic anion transport|up regulation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|positive regulation of inorganic anion membrane transport|up regulation of transmembrane inorganic anion transport|up-regulation of transmembrane inorganic anion transport|up-regulation of inorganic anion transmembrane transport|up regulation of inorganic anion membrane transport|upregulation of transmembrane inorganic anion transport|activation of inorganic anion transmembrane transport|up-regulation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|activation of inorganic anion membrane transport owl:Class HGNC:2615 biolink:NamedThing CYP2B6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005624 biolink:NamedThing suprarenal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036248 biolink:NamedThing joint of auditory ossicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001317 biolink:NamedThing internal iliac vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004374 biolink:NamedThing adult extraskeletal osteosarcoma An osteosarcoma arising from the soft tissue, and occurring in adults. tmpte7i6ely_mondo_relaxed.owl extraskeletal osteosarcoma|extraosseous osteosarcoma of adults|adult extraosseous osteosarcoma|adult extraskeletal osteosarcoma NCIT:C7925|DOID:7827|UMLS:C0278985 owl:Class MONDO:0024506 biolink:NamedThing Adams-Oliver syndrome 1 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene. tmpte7i6ely_mondo_relaxed.owl aplasia cutis congenita with terminal transverse limb defects|Adams-Oliver syndrome caused by mutation in ARHGAP31|aplasia cutis congenita, congenital heart defect, and frontonasal cysts|Adams-Oliver syndrome 1|congenital scalp defects with distal limb reduction anomalies|AOS1|ARHGAP31 Adams-Oliver syndrome|absence defect of limbs, scalp, and skull|AOS UMLS:CN028867|UMLS:C0265268|OMIM:100300|Orphanet:974 owl:Class MONDO:0020713 biolink:NamedThing pulmonary venoocclusive disease 1 tmpte7i6ely_mondo_relaxed.owl pulmonary venoocclusive disease 1, autosomal dominant|PVOD1 OMIM:265450 owl:Class HGNC:1078 biolink:NamedThing BMPR2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13841 biolink:NamedThing ADGRG6 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:18085 biolink:NamedThing glycosaminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. tmpte7i6ely_mondo_relaxed.owl glycosaminoglycane|Glycosaminoglycan|glycosaminoglycans|glicosaminoglicano|Glykosaminoglykan|glycosaminoglycan owl:Class NCBITaxon:10407 biolink:NamedThing Hepatitis B virus tmpte7i6ely_mondo_relaxed.owl human hepatitis B virus HBV|HBV|Human hepatitis B virus|hepatitis B virus, HBV|hepatitis B virus HBV|hepatitis B virus (HBV) GC_ID:1 ncbi_taxonomy owl:Class HGNC:1246 biolink:NamedThing C1R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014561 biolink:NamedThing 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene. tmpte7i6ely_mondo_relaxed.owl 3-methylglutaconic aciduria type VII|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|3-Methylglutaconic aciduria, type 7|MGCA7|MGA7|3-methylglutaconic aciduria caused by mutation in CLPB|3-methylglutaconic aciduria type 7|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|MEGCANN OMIM:616271|ICD10:E71.1|UMLS:C4225393|DOID:0110003|SCTID:764860006|EFO:0009014|Orphanet:445038 Present because it is in the OMIM series. owl:Class NCBITaxon:36830 biolink:NamedThing Clostridium botulinum E tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:12423 biolink:NamedThing TULP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13013 biolink:NamedThing KAT6A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005333 biolink:NamedThing hyperthyroxinemia Abnormally elevated thyroxine level in the blood. tmpte7i6ely_mondo_relaxed.owl DOID:2855|HGNC:399|OMIM:145680|UMLS:C0020551|MESH:D006981|OMIM:615999|EFO:0004127 owl:Class ECTO:0000699 biolink:NamedThing exposure to probe An exposure to probe. tmpte7i6ely_mondo_relaxed.owl exposure to probe owl:Class HGNC:5716 biolink:NamedThing IGKC tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11758 biolink:NamedThing TFG tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7967 biolink:NamedThing NR1H4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020797 biolink:NamedThing decompression sickness A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. tmpte7i6ely_mondo_relaxed.owl Decompression sickness|bends|Sickness, Decompression|Divers' palsy|Rapture of the deep syndrome|Compressed air disease|Disease, Caisson|Diseases, Caisson|Caisson Diseases|Divers' paralysis|Caisson disease|the bends|Decompression Sickness|compressed-air disease|divers' palsy|caisson disease|decompression sickness|CAISSON DIS|Compressed-air disease|Caisson Disease|divers' paralysis|The bends|Bends ICD9:993.3|MESH:D003665|UMLS:C0011119|SCTID:89684003 owl:Class MONDO:0010020 biolink:NamedThing congenital generalized lipodystrophy type 2 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene. tmpte7i6ely_mondo_relaxed.owl lipodystrophy, Berardinelli-Seip congenital, type 2|Seip syndrome|Berardinelli-Seip congenital lipodystrophy type 2|Berardinelli Seip congenital lipodystrophy type 2|lipodystrophy, congenital generalized, type 2|total lipodystrophy and acromegaloid gigantism|congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|Berardinelli-Seip syndrome|BSCL2-related Brunzell syndrome|BSCL2 congenital generalized lipodystrophy (disease)|CGL2|congenital lipoatrophic diabetes|Berardinelli syndrome|lipoatrophic diabetes, congenital|Berardinelli-Seip congenital lipodystrophy, type 2|Brunzell syndrome, BSCL2-related|Brunzell syndrome BSCL2-related|lipodystrophy, total, and acromegaloid gigantism ICD10:E88.1|OMIM:269700|DOID:0111136|Orphanet:528|GARD:0010212 https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2 owl:Class HGNC:1268 biolink:NamedThing TSPEAR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012367 biolink:NamedThing retinitis pigmentosa 31 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 31|RP31|TOPORS retinitis pigmentosa|retinitis pigmentosa type 31|RP 31|retinitis pigmentosa caused by mutation in TOPORS MESH:C563685|GARD:0010396|ICD10:H35.5|OMIM:609923|DOID:0110391|UMLS:C1835923 https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31 owl:Class HGNC:21653 biolink:NamedThing TOPORS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009614 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblB An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. tmpte7i6ely_mondo_relaxed.owl methylmalonic acidemia, cblB type|methylmalonic aciduria, cblB type|methylmalonic acidemia cblB type|vitamin B12-responsive methylmalonic acidemia type cblB|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic aciduria cblB type GARD:0009479|UMLS:C1855102|OMIM:251110|DOID:0060743|NCIT:C142172|Orphanet:79311|Orphanet:28|ICD10:E71.1 owl:Class HGNC:19331 biolink:NamedThing MMAB tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5031 biolink:NamedThing HNRNPA1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001977 biolink:NamedThing renal system process involved in regulation of blood volume A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. tmpte7i6ely_mondo_relaxed.owl renal regulation of blood volume|renal blood volume control of blood pressure owl:Class HGNC:23056 biolink:NamedThing ALG3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002630 biolink:NamedThing Fat malabsorption Abnormality of the absorption of fat from the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:197494007|UMLS:C0554103 human_phenotype owl:Class OBO:CHR_9606-chr11p1 biolink:NamedThing 11p1 (Human) tmpte7i6ely_mondo_relaxed.owl 53400000 0 hg38 owl:Class CL:0000593 biolink:NamedThing androgen secreting cell A steroid hormone secreting cell that secretes androgen. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0013689 biolink:NamedThing ovarian dysgenesis 3 Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. tmpte7i6ely_mondo_relaxed.owl PSMC3IP 46 XX gonadal dysgenesis|ovarian dysgenesis type 3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP|ovarian dysgenesis 3|ODG3 OMIM:614324|Orphanet:243|DOID:0080495|UMLS:C3280471 owl:Class UBERON:0011978 biolink:NamedThing epiphysis of middle phalanx of manus tmpte7i6ely_mondo_relaxed.owl owl:Class PCO:0000002 biolink:NamedThing ecological community A multi-species collection of organisms of at least two different species, living in a particular area. Must have at least two populations of different species as members. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002809 biolink:NamedThing right temporal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q12 biolink:NamedThing 8q12 (Human) tmpte7i6ely_mondo_relaxed.owl 65100000 54600000 hg38 owl:Class MONDO:0001062 biolink:NamedThing pyloric antrum cancer A malignant neoplasm involving the pyloric antrum. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of pyloric antrum|malignant pyloric antrum neoplasm|pyloric antrum cancer|cancer of pyloric antrum|malignant tumor of pyloric antrum|malignant neoplasm of antrum of stomach ICD9:151.2|ICD10:C16.3|UMLS:C0153419|DOID:10547|SCTID:187740000 owl:Class MONDO:0013723 biolink:NamedThing bacteremia, susceptibility to, 1 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene. tmpte7i6ely_mondo_relaxed.owl bacteremia, resistance to|TIRAP bacteremia, susceptibility|BACTS1|bacteremia, susceptibility caused by mutation in TIRAP|bacteremia, susceptibility to, 1|bacteremia, susceptibility to, type 1 OMIM:614382 owl:Class HGNC:17192 biolink:NamedThing TIRAP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10825 biolink:NamedThing SH3BP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013805 biolink:NamedThing intellectual disability, autosomal dominant 13 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal dominant 13|intellectual disability, autosomal dominant type 13|intellectual disability, autosomal dominant 13, with neuronal migration defects|autosomal dominant mental retardation 13|intellectual disability, autosomal dominant, 13, with neuronal migration defects|autosomal dominant intellectual disability 13|mental retardation, autosomal dominant 13|mental retardation, autosomal dominant, 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability 13|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|mental retardation, autosomal dominant type 13|mental retardation, autosomal dominant 13, with neuronal migration defects|DYNC1H1 autosomal dominant non-syndromic intellectual disability|MRD13 UMLS:C3281202|DOID:0070043|OMIM:614563|Orphanet:178469 owl:Class HGNC:2961 biolink:NamedThing DYNC1H1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044753 biolink:NamedThing lumbar spinal stenosis A spinal stenosis that involves the lumbar region of vertebral column. tmpte7i6ely_mondo_relaxed.owl spinal stenosis of lumbar region of vertebral column|lumbar spinal stenosis|spinal stenosis of lumbar region|lumbar region of vertebral column spinal stenosis UMLS:C0158288|HP:0004610|ICD9:724.02|SCTID:18347007 owl:Class MONDO:0012698 biolink:NamedThing Waardenburg syndrome type 2E Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. tmpte7i6ely_mondo_relaxed.owl WS2E|Waardenburg syndrome type 2 caused by mutation in SOX10|hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|Waardenburg syndrome type 2E with or without neurologic involvement|Waardenburg syndrome, type 2E|Waardenburg syndrome, type 2E, with or without neurologic involvement|WS2E with or without neurological involvement|Waardenburg syndrome type IIE|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation|SOX10 Waardenburg syndrome type 2|Ws2E, with or without neurologic involvement UMLS:C2700405|Orphanet:895|DOID:0110956|Orphanet:3440|OMIM:611584 owl:Class HGNC:11190 biolink:NamedThing SOX10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014087 biolink:NamedThing Smith-McCort dysplasia 2 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene. tmpte7i6ely_mondo_relaxed.owl Smith-McCort dysplasia type 2|RAB33B Smith-McCort dysplasia|Smc2|Smith-McCort dysplasia 2|Smith-McCort dysplasia caused by mutation in RAB33B|SMITH-McCort dysplasia 2 OMIM:615222|UMLS:C3714896|Orphanet:178355 owl:Class HGNC:16075 biolink:NamedThing RAB33B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013702 biolink:NamedThing intellectual disability, autosomal recessive 27 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive type 27|mental retardation, autosomal recessive type 27|LINS1 autosomal recessive non-syndromic intellectual disability|MRT27|intellectual disability, autosomal recessive 27|mental retardation, autosomal recessive 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1 OMIM:614340|Orphanet:88616|UMLS:C3280538 owl:Class HGNC:30922 biolink:NamedThing LINS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013606 biolink:NamedThing Hermansky-Pudlak syndrome 9 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. tmpte7i6ely_mondo_relaxed.owl BLOC1S6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in BLOC1S6|Hermansky-Pudlak syndrome type 9|Hermansky-Pudlak syndrome 9|HPS9 Orphanet:79430|OMIM:614171|ICD10:E70.3|UMLS:C3280026|DOID:0060547|Orphanet:280663 owl:Class HGNC:8549 biolink:NamedThing BLOC1S6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8024 biolink:NamedThing NTF4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022854 biolink:NamedThing congenital unilateral pulmonary hypoplasia tmpte7i6ely_mondo_relaxed.owl GARD:0001507 https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia owl:Class HP:0001251 biolink:NamedThing Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). tmpte7i6ely_mondo_relaxed.owl Cerebellar ataxia MSH:D002524|SNOMEDCT_US:85102008|UMLS:C0007758 Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. HP:0002513|HP:0007050|HP:0007157|HP:0001253 human_phenotype owl:Class MONDO:0006314 biolink:NamedThing nasal cavity polyp A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. tmpte7i6ely_mondo_relaxed.owl nasal cavity polyp|polyp of nasal cavity|nasal polyp|polyp of the nasal cavity ICD9:471.9|UMLS:C0027430|EFO:1000391|SCTID:52756005|ICD9:471.0|NCIT:C3256|MESH:D009298 owl:Class FOODON:00002451 biolink:NamedThing food transformation process A process involving the physical transformation of a food source or food product into some derived organic material or food product tmpte7i6ely_mondo_relaxed.owl requires discussion Damion Dooley owl:Class UBERON:0010189 biolink:NamedThing right atrium venous valve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005988 biolink:NamedThing atrium myocardial trabecula tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034730 biolink:NamedThing olfactory tract linking bulb to ipsilateral dorsal telencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001535 biolink:NamedThing vertebral artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003913 biolink:NamedThing choroid mixed cell melanoma A mixed cell uveal melanoma that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl optic choroid mixed cell uveal melanoma|mixed cell uveal melanoma of optic choroid|choroid mixed cell melanoma UMLS:C1333025|NCIT:C35782|DOID:6525 owl:Class MONDO:0007401 biolink:NamedThing craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Braddock Jones Superneau syndrome|HDCPH1|hydrocephalus, autosomal dominant|Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|Braddock-Jones-Superneau syndrome|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome GARD:0000998|MESH:C563973|SCTID:720813007|OMIM:123155|ICD10:Q03.1|Orphanet:1538|ICD10:Q75.0|GARD:0001592|UMLS:CN199608 https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus owl:Class CL:0019017 biolink:NamedThing lymphatic vessel smooth muscle cell A smooth muscle cell that is part of any lymphatic vessel. tmpte7i6ely_mondo_relaxed.owl smooth muscle cell of lymphatic vessel 2020-07-21 12:29:51+00:00 owl:Class MONDO:0013337 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1C A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. tmpte7i6ely_mondo_relaxed.owl HSAN 1C|hereditary sensory and autonomic neuropathy type 1C|HSAN1C|neuropathy, hereditary sensory, type 1C|neuropathy, hereditary sensory and autonomic, type IC|HSN 1C|hereditary sensory and autonomic neuropathy type IC Orphanet:36386|UMLS:C3150896|OMIM:613640|DOID:0070157 owl:Class GO:0004346 biolink:NamedThing glucose-6-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. tmpte7i6ely_mondo_relaxed.owl glucose 6-phosphate phosphatase activity|D-glucose-6-phosphate phosphohydrolase activity owl:Class MONDO:0008515 biolink:NamedThing syndactyly type 4 Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). tmpte7i6ely_mondo_relaxed.owl syndactyly, type IV|Sd4|syndactyly, type 4|LMBR1 non-syndromic syndactyly|polysyndactyly type Haas|SDTY4|Haas type syndactyly|non-syndromic syndactyly caused by mutation in LMBR1|polysyndactyly, Haas type OMIM:186200|SCTID:719158007|GARD:0004434|Orphanet:93405|MESH:C566092|ICD10:Q70.4|UMLS:C1861355 https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 owl:Class MONDO:0007538 biolink:NamedThing amelogenesis imperfecta, type 3A Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, hypocalcification type, autosomal dominant|FAM83H amelogenesis imperfecta|amelogenesis imperfecta hypomineralization type|AI3|amelogenesis imperfecta, type 3A|ADHCAI|amelogenesis imperfecta, type III|amelogenesis imperfecta caused by mutation in FAM83H|amelogenesis imperfecta, type IIIA|AI3A|autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, hypomineralization type|amelogenesis imperfecta type 3|amelogenesis imperfecta type 3A|amelogenesis imperfecta, type 3|amelogenesis imperfecta type III OMIM:130900|SCTID:109471001|Orphanet:100032|DOID:0110055|MESH:C562880|OMIM:616221|ICD10:K00.5 owl:Class HGNC:24797 biolink:NamedThing FAM83H tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004962 biolink:NamedThing stage II endometrioid carcinoma Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. tmpte7i6ely_mondo_relaxed.owl EFO:0000206 owl:Class MONDO:0007759 biolink:NamedThing hyperlipidemia, familial combined, LPL related tmpte7i6ely_mondo_relaxed.owl FCHL|hyperlipidemia, familial combined|familial combined hyperlipidemia OMIM:144250 Editor note: the OMIM:144250 entry refers to the LPL-caused form owl:Class UBERON:0003559 biolink:NamedThing hindbrain arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012339 biolink:NamedThing celiac disease, susceptibility to, 4 Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to celiac disease 4|MYO9B celiac disease|celiac disease, susceptibility to, type 4|celiac disease, susceptibility to, 4|CELIAC4|celiac disease caused by mutation in MYO9B|gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 owl:Class MONDO:0024456 biolink:NamedThing anterior segment dysgenesis 3 An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1) tmpte7i6ely_mondo_relaxed.owl iridogoniodysgenesis anomaly, autosomal dominant|iridogoniodysgenesis type 1|IRID1|IGDA|FOXC1 iridogoniodysgenesis|glaucoma iridogoniodysgenesia|iridogoniodysgenesis, type 1|ASGD3|IGDA syndrome|anterior segment dysgenesis 3|iridogoniodysgenesis caused by mutation in FOXC1|iris hypoplasia with glaucoma|glaucoma iridogoniodysplasia, familial OMIM:601631|MESH:C535535|GARD:0002482|DOID:0080608|GARD:0002978|UMLS:C1839928 Editor note: check GARD re 2482 https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia owl:Class MONDO:0012154 biolink:NamedThing myopia 6 Any myopia in which the cause of the disease is a mutation in the SCO2 gene. tmpte7i6ely_mondo_relaxed.owl SCO2 myopia (disease)|myopia, susceptibility to|myopia 6|myopia (disease) caused by mutation in SCO2|myopia type 6|MYP6 Orphanet:98619|OMIM:608908|GARD:0009937|MESH:C536105 https://rarediseases.info.nih.gov/diseases/9937/myopia-6 owl:Class MONDO:0014928 biolink:NamedThing Joubert syndrome 28 Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpte7i6ely_mondo_relaxed.owl MKS1 Joubert syndrome|Joubert syndrome 28|Joubert syndrome type 28|JBTS28|Joubert syndrome caused by mutation in MKS1 UMLS:C4310705|DOID:0110997|OMIM:617121 owl:Class PATO:0002098 biolink:NamedThing neoplastic, metastatic A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097485 biolink:NamedThing neuron projection guidance The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues. tmpte7i6ely_mondo_relaxed.owl neuron protrusion guidance|neuron process guidance|neurite guidance|neuronal cell projection guidance owl:Class HP:0002835 biolink:NamedThing Aspiration Inspiration of a foreign object into the airway. tmpte7i6ely_mondo_relaxed.owl Pulmonary aspiration UMLS:C2712334|UMLS:C0700198|SNOMEDCT_US:413585005|SNOMEDCT_US:68052005 human_phenotype owl:Class CL:0000492 biolink:NamedThing CD4-positive helper T cell A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions. tmpte7i6ely_mondo_relaxed.owl CD4-positive T-helper cell|CD4-positive helper T-cell|CD4-positive helper T lymphocyte|CD4-positive helper T-lymphocyte FMA:70572|CALOHA:TS-1146 cell owl:Class HGNC:14450 biolink:NamedThing LPIN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011698 biolink:NamedThing glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases. tmpte7i6ely_mondo_relaxed.owl GNMT deficiency|glycine N-methyltransferase deficiency|hypermethioninemia due to GNMT deficiency|Glycine N-methyltransferase deficiency|hypermethioninemia due to glycine N-methyltransferase deficiency OMIM:606664|UMLS:C1847720|DOID:0111037|Orphanet:289891|SCTID:763720007|GARD:0010764|ICD10:E72.1 https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency owl:Class CHEBI:25195 biolink:NamedThing mercury atom tmpte7i6ely_mondo_relaxed.owl Hg|80Hg|hydrargyrum|azogue|mercury|Quecksilber|quicksilver|mercure|liquid silver|mercurio owl:Class HGNC:6490 biolink:NamedThing LAMB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012165 biolink:NamedThing BNAR syndrome BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. tmpte7i6ely_mondo_relaxed.owl bifid nose with or without anorectal and renal anomalies|BNAR|bifid NOSE with or without anorectal and renal anomalies UMLS:C2750433|MESH:C567672|GARD:0010595|ICD10:Q87.8|OMIM:608980|SCTID:717940006|Orphanet:217266|UMLS:C4303547 owl:Class HGNC:9118 biolink:NamedThing PMP22 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005953 biolink:NamedThing outflow part of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003713 biolink:NamedThing splenic vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008591 biolink:NamedThing tremor-nystagmus-duodenal ulcer syndrome tmpte7i6ely_mondo_relaxed.owl tremor, NYSTAGMUS, and duodenal ulcer|tremor nystagmus duodenal ulcer|Neuhauser Daly Magnelli syndrome|Neuhauser-Daly-Magnelli syndrome OMIM:190310|UMLS:C1860860|MESH:C536406|GARD:0003948|Orphanet:3350 owl:Class UBERON:0019307 biolink:NamedThing epithelium of external nose tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005996 biolink:NamedThing mitral valve cusp tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q12 biolink:NamedThing 14q12 (Human) tmpte7i6ely_mondo_relaxed.owl 32900000 24100000 hg38 owl:Class UBERON:0000071 biolink:NamedThing death stage End of the life of an organism. tmpte7i6ely_mondo_relaxed.owl death owl:Class MONDO:0000919 biolink:NamedThing ampulla of vater cancer A primary or metastatic malignant neoplasm involving the ampulla of Vater. tmpte7i6ely_mondo_relaxed.owl malignant tumor of the ampulla of Vater|malignant neoplasm of ampulla of Vater|cancer of hepatopancreatic ampulla|malignant hepatopancreatic ampulla neoplasm|malignant ampulla of Vater tumor|hepatopancreatic ampulla cancer|malignant neoplasm of the ampulla of Vater|malignant neoplasm of hepatopancreatic ampulla|malignant ampulla of Vater neoplasm|malignant tumor of ampulla of Vater|malignant tumour of ampulla of vater ICD10:C24.1|DOID:10020|ICD9:156.2|NCIT:C3536|UMLS:C0153454|SCTID:363417006 owl:Class UBERON:0007177 biolink:NamedThing lamina propria of mucosa of colon tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8859 biolink:NamedThing PEX6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034980 biolink:NamedThing jugular bulb tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009504 biolink:NamedThing mesenchyme of main bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00003402 biolink:NamedThing pre-harvest food material Organic food material which has not reached harvestable maturity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023388 biolink:NamedThing pityriasis rotunda Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. tmpte7i6ely_mondo_relaxed.owl Pityriasis rotunda GARD:0010904|SCTID:238639005|UMLS:C0343060 owl:Class ENVO:00002982 biolink:NamedThing clay A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060485 biolink:NamedThing mesenchyme development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. tmpte7i6ely_mondo_relaxed.owl mesenchymal development owl:Class MONDO:0013459 biolink:NamedThing osteogenesis imperfecta type 10 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, type X|OI type 10|OI10|osteogenesis imperfecta type X|osteogenesis imperfecta caused by mutation in SERPINH1|SERPINH1 osteogenesis imperfecta|OI type X|osteogenesis imperfecta, type 10|OI, type 10 DOID:0110346|OMIM:613848|UMLS:C3151211|ICD10:Q78.0|GARD:0012874|Orphanet:216812 owl:Class ENVO:01001787 biolink:NamedThing aquatic ecosystem tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002428 biolink:NamedThing double-positive blast A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating. tmpte7i6ely_mondo_relaxed.owl activated double-positive thymocyte|T.DPb.Th tmeehan 2010-10-21T01:59:11Z cell owl:Class MONDO:0014934 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 24 Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 24|autosomal dominant cerebellar ataxia caused by mutation in UBA5|spinocerebellar ataxia, autosomal recessive type 24|spinocerebellar ataxia, autosomal recessive 24; SCAR24|UBA5 autosomal dominant cerebellar ataxia|SCAR24 DOID:0111615|OMIM:617133|UMLS:C4310699 owl:Class NCBITaxon:56210 biolink:NamedThing Calomys callosus tmpte7i6ely_mondo_relaxed.owl large vesper mouse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002454 biolink:NamedThing thyroid adenoma A adenoma that involves the thyroid gland. tmpte7i6ely_mondo_relaxed.owl thyroid adenoma (disease)|adenoma of thyroid gland|thyroid gland adenoma|thyroid adenoma thyroid adenoma (disease) DOID:2891|UMLS:C0151468|NCIT:C3502|SCTID:255033000|HP:0000854|SCTID:255034006 Editor note: consider merging with follicular thyroid adenoma owl:Class MONDO:0001041 biolink:NamedThing dentin caries A dental caries that involves the dentine. tmpte7i6ely_mondo_relaxed.owl dentine dental caries|compound dental caries|dental caries of dentine|dental caries extending into dentine DOID:10461|UMLS:C0266846|SCTID:442551007|ICD9:521.02|ICD10:K02.1 owl:Class HGNC:3481 biolink:NamedThing ETFA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4570 biolink:NamedThing GRHPR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004752 biolink:NamedThing neurofibroma of the heart A rare neurofibroma that affects the heart. tmpte7i6ely_mondo_relaxed.owl heart neurofibroma|Cardiac neurofibroma|neurofibroma of the heart|neurofibroma of heart DOID:9300|UMLS:C1096349|NCIT:C5359 owl:Class MONDO:0007283 biolink:NamedThing cataract 42 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene. tmpte7i6ely_mondo_relaxed.owl A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.|cataract type 42|cataract 42|CTRCT42|early-onset non-syndromic cataract caused by mutation in CRYBA2|CRYBA2 early-onset non-syndromic cataract DOID:0110237|OMIM:115900|Orphanet:91492|ICD10:Q12.0|UMLS:C4011454 Not in the OMIM series. owl:Class HGNC:2395 biolink:NamedThing CRYBA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022818 biolink:NamedThing congenital aneurysms of the great vessels tmpte7i6ely_mondo_relaxed.owl GARD:0001472 https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels owl:Class HGNC:10397 biolink:NamedThing RPS17 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3535 biolink:NamedThing F2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015763 biolink:NamedThing mosaic trisomy 2 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy type 2|Mosaic trisomy chromosome 2|trisomy 2 mosaicism UMLS:CN073991|Orphanet:1723|ICD10:Q92.1|GARD:0005331|SCTID:764623009 owl:Class HsapDv:0000104 biolink:NamedThing 10-year-old human stage Child stage that refers to a child who is over 10 and under 11 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1759 biolink:NamedThing CDH2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4044 biolink:NamedThing FZD6 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003072 biolink:NamedThing Hypercalcemia An abnormally increased calcium concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Hypercalcaemia|High blood calcium levels|Increased calcium in blood SNOMEDCT_US:66931009|MSH:D006934|SNOMEDCT_US:166702002|UMLS:C0020437 human_phenotype owl:Class HGNC:1100 biolink:NamedThing BRCA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006813 biolink:NamedThing nasal skeleton tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005788 biolink:NamedThing lamina rara interna tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008590 biolink:NamedThing tremor, hereditary essential, 1 Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene. tmpte7i6ely_mondo_relaxed.owl tremor, hereditary essential, 1|DRD3 essential tremor|ETM1|essential tremor caused by mutation in DRD3|tremor hereditary essential, 1|tremor, hereditary essential, type 1|FET1|tremor familial essential, 1|tremor, familial essential, 1 GARD:0005244|OMIM:190300|DOID:0111428|MESH:C536545|UMLS:C1860861 owl:Class HGNC:3024 biolink:NamedThing DRD3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5042 biolink:NamedThing HNRNPH2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014391 biolink:NamedThing palmar/plantar sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020541 biolink:NamedThing maligant granulosa cell tumor of ovary An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl malignant granulosa cell neoplasm of ovary|malignant ovarian granulosa cell tumor|adult granulosa cell tumor of the ovary|malignant ovarian granulosa cell neoplasm|cancer of granulosa cell|granulosa theca cell tumor of the ovary|adult ovarian granulosa cell tumor|malignant granulosa cell neoplasm of the ovary|granulosa cell malignant tumor|malignant granulosa cell tumor of the ovary|granulosa cell cancer|GCT of the ovary|malignant granulosa cell tumor of ovary|ovarian granulosa cell tumor of adults|granulosa theca cell tumor|GTCT|Maligant granulosa cell tumor of the ovary|malignant granulosa cell neoplasm Orphanet:99915|ICD10:C56|GARD:0008642|UMLS:C1370419|UMLS:C0346175|MESH:D006106|UMLS:CN207442|SCTID:254861002|NCIT:C8403 https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary owl:Class HGNC:25843 biolink:NamedThing ZNF750 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25033 biolink:NamedThing LRTOMT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001700 biolink:NamedThing geniculate ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18324 biolink:NamedThing HSD3B7 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11364 biolink:NamedThing STAT3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003595 biolink:NamedThing pes connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005622 biolink:NamedThing intracellular anatomical structure A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. tmpte7i6ely_mondo_relaxed.owl internal to cell|protoplast|protoplasm|nucleocytoplasm|intracellular owl:Class CL:0000979 biolink:NamedThing IgG memory B cell An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface. tmpte7i6ely_mondo_relaxed.owl IgG memory B-cell|memory IgG B-lymphocyte|memory IgG B lymphocyte|memory IgG B cell|IgG memory B-lymphocyte|IgG memory B lymphocyte|memory IgG B-cell cell owl:Class UBERON:2002162 biolink:NamedThing ural vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000095 biolink:NamedThing cord blood hematopoietic stem cell Any hematopoietic stem cell that is part of a umbilical cord blood. tmpte7i6ely_mondo_relaxed.owl TermGenie 2015-05-26T18:58:34Z cell owl:Class UBERON:0012168 biolink:NamedThing umbilical cord blood tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24537 biolink:NamedThing CHMP2B tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004757 biolink:NamedThing sepiapterin reductase activity Catalysis of the reaction: 7,8-dihydrobiopterin + NADP+ = sepiapterin + NADPH + H+. tmpte7i6ely_mondo_relaxed.owl 7,8-dihydrobiopterin:NADP+ oxidoreductase activity owl:Class UBERON:0005406 biolink:NamedThing perirenal fat tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0009046 biolink:NamedThing flower A determinate reproductive shoot system (PO:0025082) that has as part at least one carpel (PO:0009030) or at least one stamen (PO:0009029) and does not contain any other determinate shoot system (PO:0009006) as a part. tmpte7i6ely_mondo_relaxed.owl double flower (narrow)|perfect flower (narrow)|flor (Spanish, exact)|monoclinous flower (narrow)|basal flower (narrow)|floret (related)|花 (Japanese, exact)|Asteraceae floret (narrow)|hermaphrodite flower (narrow) PO_GIT:259|PO_GIT:160 The characteristic reproductive structure of angiosperms. May have as part one or more petals, sepals or tepals. May contain one or more pistillode (PO:0009078), staminode (PO:0009077) or other aborted organs that don't show up in mature form. PO:0004541 plant_anatomy owl:Class PO:0000229 biolink:NamedThing flower meristem A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395). tmpte7i6ely_mondo_relaxed.owl floral apical meristem (related)|花芽分裂組織 (Japanese, exact)|ear floret meristem (narrow)|Poaceae floret meristem (narrow)|floret meristem (narrow)|tassel floret meristem (narrow)|floral meristem (exact)|mersitema floral (Spanish, exact) In Zea mays and other grasses, the floret meristem is part of a spikelet and develops into a specific type of floret. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the spikelet type that the meristem is part of. Choose the most specific term possible from: spikelet (PO:0009051), ear spikelet (PO:0006320), ear pedicellate spikelet (PO:0006348), ear sessile spikelet (PO:0006349), tassel spikelet (PO:0006309), tassel pedicellate spikelet (PO:0006312), tassel sessile spikelet (PO:0006311). PO:0006329|PO:0006373|PO:0025091|PO:0006374 plant_anatomy owl:Class MONDO:0010911 biolink:NamedThing prolactin-producing pituitary gland adenoma Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. tmpte7i6ely_mondo_relaxed.owl PRL producing pituitary gland adenoma|prolactin producing adenoma of pituitary gland|prolactin secreting pituitary gland adenoma|prolactin secreting pituitary adenoma|prolactin producing adenoma of the pituitary gland|prolactin secreting adenoma of the pituitary|prolactinoma of the pituitary gland|Forbes-Albright syndrome (formerly)|PRLoma|prolactin producing adenoma of pituitary|prolactin secreting adenoma|prolactin producing pituitary adenoma|familial prolactinoma|prolactin secreting adenoma of the pituitary gland|prolactinoma of the pituitary|prolactin secreting adenoma of pituitary|pituitary adenoma, prolactin-secreting|prolactinoma of pituitary|lactotroph adenoma|prolactin producing pituitary gland adenoma|prolactinoma, familial|pituitary prolactinoma|pituitary lactotrophic adenoma|prolactinoma|lactotrope adenoma|prolactin-secreting pituitary adenoma|prolactin secreting adenoma of pituitary gland|lactotroph cell adenoma|PRL-secreting pituitary adenoma|prolactin producing adenoma of the pituitary|pituitary gland prolactinoma|prolactin-producing pituitary gland adenoma|prolactinoma of pituitary gland MESH:D015175|Orphanet:2965|ICD10:D35.2|MedDRA:10036832|ICDO:8271/0|EFO:1000496|Orphanet:314777|OMIM:600634|NCIT:C3342|SCTID:134209002|ICD10:E22.1|GARD:0004508|DOID:5394|UMLS:C0033375 owl:Class UBERON:0005568 biolink:NamedThing rhombomere 1 roof plate tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005499 biolink:NamedThing rhombomere 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017638 biolink:NamedThing manganese poisoning Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) tmpte7i6ely_mondo_relaxed.owl manganese intoxication|Manganism ICD10:T57.2|MedDRA:10058951|SCTID:88687001|MESH:D020149|Orphanet:306682|EFO:1001808|ICD9:503 owl:Class HGNC:17110 biolink:NamedThing ADAMTS18 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10q22.3-q23.3 biolink:NamedThing 10q22.3-q23.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0012840 biolink:NamedThing inflammatory bowel disease 17 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene. tmpte7i6ely_mondo_relaxed.owl IBD17|inflammatory bowel disease type 17|inflammatory bowel disease caused by mutation in IL23R|IL23R inflammatory bowel disease|inflammatory bowel disease 17 OMIM:612261|UMLS:C2677091|MESH:C567378|DOID:0110883 owl:Class N24194579d2c24e35b95e055e5293683a biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014759 biolink:NamedThing intellectual disability, autosomal recessive 51 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT|intellectual disability, autosomal recessive 51|intellectual disability, autosomal recessive type 51|mental retardation, autosomal recessive type 51|HNMT autosomal recessive non-syndromic intellectual disability|MRT51|mental retardation, autosomal recessive 51 OMIM:616739|UMLS:C4225220 owl:Class HGNC:5028 biolink:NamedThing HNMT tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11040 biolink:NamedThing SLC5A5 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001156 biolink:NamedThing Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. tmpte7i6ely_mondo_relaxed.owl Brachydactyly syndrome|Short fingers or toes UMLS:C0221357|MSH:D059327|SNOMEDCT_US:43476002 HP:0006017|HP:0100667|HP:0005727|HP:0001189|HP:0001201|HP:0005657|HP:0005630|HP:0006128 human_phenotype owl:Class UBERON:0013507 biolink:NamedThing thoracic vertebra cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016175 biolink:NamedThing superoxide-generating NAD(P)H oxidase activity Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. tmpte7i6ely_mondo_relaxed.owl cytochrome B-245 owl:Class HGNC:11362 biolink:NamedThing STAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9005 biolink:NamedThing PITX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023138 biolink:NamedThing Feingold trainer syndrome tmpte7i6ely_mondo_relaxed.owl unusual facies, cleft palate, short stature, and mental retardation|unusual facies, cleft palate, short stature, and intellectual disability GARD:0002282|MESH:C536179|UMLS:C2931126 https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome owl:Class HGNC:3700 biolink:NamedThing FH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009653 biolink:NamedThing trachea basement membrane tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001310 biolink:NamedThing umbilical artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24036 biolink:NamedThing APC2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009742 biolink:NamedThing proamniotic cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005323 biolink:NamedThing mesonephric mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012321 biolink:NamedThing deep cervical artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007395 biolink:NamedThing craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features. tmpte7i6ely_mondo_relaxed.owl Sommer-Young-Wee-Frye syndrome|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss|craniofacial-deafness-hand syndrome|CDHS|craniofacial deafness hand syndrome MESH:C536453|GARD:0001571|ICD9:759.89|SCTID:702362004|DOID:0111336|OMIM:122880|Orphanet:1529|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome owl:Class MONDO:0012888 biolink:NamedThing sarcoidosis, susceptibility to, 2 Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene. tmpte7i6ely_mondo_relaxed.owl SS2|sarcoidosis, susceptibility to, 2|susceptibility to sarcoidosis 2|BTNL2 sarcoidosis|sarcoidosis caused by mutation in BTNL2|sarcoidosis, susceptibility to, type 2 Orphanet:797|OMIM:612387 owl:Class GO:0003013 biolink:NamedThing circulatory system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014781 biolink:NamedThing combined oxidative phosphorylation deficiency 29 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene. tmpte7i6ely_mondo_relaxed.owl COXPD29|combined oxidative phosphorylation deficiency 29; COXPD29|combined oxidative phosphorylation deficiency type 29|TXN2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 29|combined oxidative phosphorylation deficiency caused by mutation in TXN2 OMIM:616811|UMLS:C4225200|DOID:0111501 owl:Class GO:0002794 biolink:NamedThing regulation of antimicrobial peptide secretion Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12399 biolink:NamedThing MYOT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024429 biolink:NamedThing Alice in Wonderland syndrome A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities. tmpte7i6ely_mondo_relaxed.owl MESH:D062026|NCIT:C116362 owl:Class MONDO:0014351 biolink:NamedThing pontocerebellar hypoplasia type 9 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene. tmpte7i6ely_mondo_relaxed.owl PCH9|AMPD2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2|pontocerebellar hypoplasia, type 9 OMIM:615809|DOID:0060278|UMLS:C4014354|Orphanet:369920|ICD10:Q04.3 owl:Class MONDO:0036781 biolink:NamedThing benign axillary neoplasm A non-metastasizing neoplasm that arises from the structures of the axilla. tmpte7i6ely_mondo_relaxed.owl benign axillary neoplasm|axillary neoplasm, benign UMLS:C0684828|NCIT:C35750 owl:Class GO:0045931 biolink:NamedThing positive regulation of mitotic cell cycle Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. tmpte7i6ely_mondo_relaxed.owl stimulation of progression through mitotic cell cycle|upregulation of progression through mitotic cell cycle|activation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|positive regulation of progression through mitotic cell cycle owl:Class HGNC:12873 biolink:NamedThing ZIC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007389 biolink:NamedThing spondylocostal dysostosis 5 Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene. tmpte7i6ely_mondo_relaxed.owl spondylocostal dysostosis caused by mutation in TBX6|scoliosis, congenital, with or without rib anomalies|polydysspondyly|spondylothoracic dysostosis|spondylocostal dysplasia|spondylocostal dysostosis type 5|TBX6 spondylocostal dysostosis|costovertebral segmentation anomalies|spondylocostal dysostosis 5|SCDO5 OMIM:122600|GARD:0012806|UMLS:C4083048|Orphanet:1797 May be AD or AR owl:Class HGNC:11605 biolink:NamedThing TBX6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002330 biolink:NamedThing alcoholic psychosis A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. tmpte7i6ely_mondo_relaxed.owl alcoholic psychoses SCTID:42344001|EFO:1001260|DOID:252|MESH:D011604|ICD9:291.89|ICD9:291.9|ICD9:291.8 owl:Class MONDO:0007999 biolink:NamedThing holoprosencephaly 2 A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly 2|HPE2|SIX3 holoprosencephaly|holoprosencephaly caused by mutation in SIX3|holoprosencephaly type 2 NCIT:C74995|OMIM:157170|UMLS:C1834877|Orphanet:2162|MESH:C563579|DOID:0110872 owl:Class MONDO:0024567 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene. tmpte7i6ely_mondo_relaxed.owl IHPRF1|Ihprf|hypotonia, infantile, with psychomotor retardation and characteristic facies 1|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN|NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies OMIM:615419|UMLS:C3809454|Orphanet:371364 owl:Class MONDO:0013204 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 4 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, type 4|FECD4|corneal dystrophy, Fuchs endothelial, 4|Fuchs' endothelial dystrophy caused by mutation in SLC4A11|SLC4A11 Fuchs' endothelial dystrophy OMIM:613268|UMLS:C2750450|Orphanet:98974 owl:Class MONDO:0015643 biolink:NamedThing photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. tmpte7i6ely_mondo_relaxed.owl photogenic epilepsy|photoparoxysmal response|PSE OMIM:132100|ICD9:345.80|Orphanet:166409|OMIM:609572|GARD:0005648|ICD10:G40.8|SCTID:95208000|DOID:0060281|OMIM:609573|OMIMPS:132100|UMLS:C0393720 https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy owl:Class ECTO:0000007 biolink:NamedThing exposure to visible light radiation A exposure event involving the interaction of an exposure receptor to visible spectrum radiation. tmpte7i6ely_mondo_relaxed.owl visible spectrum radiation exposure owl:Class HGNC:406 biolink:NamedThing ALDH4A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20772 biolink:NamedThing TUBB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018956 biolink:NamedThing idiopathic bronchiectasis Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). tmpte7i6ely_mondo_relaxed.owl OMIM:613071|OMIM:211400|ICD10:J47|SCTID:233629001|OMIM:613021|Orphanet:60033|UMLS:C0339985 owl:Class HGNC:16510 biolink:NamedThing FBXO31 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23019 biolink:NamedThing carbonyl group tmpte7i6ely_mondo_relaxed.owl carbonyl|>C=O|carbonyl group owl:Class MONDO:0003993 biolink:NamedThing childhood vagina botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpte7i6ely_mondo_relaxed.owl vaginal childhood sarcoma Botryoides|botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood|childhood sarcoma Botryoides of the vagina|pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|vaginal childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vagina NCIT:C35556|DOID:6787|UMLS:C1332945 owl:Class CL:0002598 biolink:NamedThing bronchial smooth muscle cell tmpte7i6ely_mondo_relaxed.owl BTO:0004402 tmeehan 2011-03-06T05:46:39Z cell owl:Class MONDO:0009749 biolink:NamedThing giant axonal neuropathy 1 Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. tmpte7i6ely_mondo_relaxed.owl giant axonal neuropathy caused by mutation in GAN|GAN1|neuropathy, giant axonal|giant axonal neuropathy 1|GAN giant axonal neuropathy|giant axonal neuropathy 1, autosomal recessive|giant axonal neuropathy caused by mutation in gan|giant axonal neuropathy type 1|gan|gan giant axonal neuropathy ICD10:G60.8|MESH:D056768|Orphanet:643|GARD:0006500|UMLS:C1850386|OMIM:256850|DOID:0090068 https://github.com/monarch-initiative/mondo/issues/2532 owl:Class UBERON:0004527 biolink:NamedThing alveolar process of maxilla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011502 biolink:NamedThing Wolfram syndrome 2 Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene. tmpte7i6ely_mondo_relaxed.owl WOLFRAM syndrome 2|Wolfram syndrome type 2|CISD2 Wolfram syndrome|Wolfram syndrome caused by mutation in CISD2|WFS2|Wolfram syndrome 2 MESH:C565733|Orphanet:3463|OMIM:604928|DOID:0110630|ICD10:E13.8|UMLS:C1858028 owl:Class GO:0015068 biolink:NamedThing glycine amidinotransferase activity Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate. tmpte7i6ely_mondo_relaxed.owl arginine-glycine amidinotransferase activity|L-arginine:glycine amidinotransferase activity|arginine-glycine transamidinase activity|glycine transamidinase activity owl:Class HGNC:7773 biolink:NamedThing NF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006398 biolink:NamedThing retroperitoneal inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpte7i6ely_mondo_relaxed.owl retroperitoneal inflammatory myofibroblastic tumor|retroperitoneal space inflammatory myofibroblastic tumor UMLS:C1514921|NCIT:C39741|EFO:1000510 owl:Class UBERON:0007302 biolink:NamedThing pectoral appendage vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003414 biolink:NamedThing mesenchyme of mandible tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015675 biolink:NamedThing distomatosis Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines. tmpte7i6ely_mondo_relaxed.owl fluke infection|distomiasis ICD9:121.9|Orphanet:1685|ICD9:121.8|SCTID:26089000|GARD:0001891 https://rarediseases.info.nih.gov/diseases/1891/distomatosis owl:Class MONDO:0013223 biolink:NamedThing autosomal recessive spondylometaphyseal dysplasia, Megarbane type Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene. tmpte7i6ely_mondo_relaxed.owl PAM16 spondylodysplastic dysplasia|chondrodysplasia, Megarbane-Dagher-Melki type|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|SMDMDM|autosomal recessive spondylometaphyseal dysplasia, Mégarbané type|spondylodysplastic dysplasia caused by mutation in PAM16 ICD10:Q77.8|Orphanet:401979|MESH:C567644|OMIM:613320|UMLS:C2750075 owl:Class HGNC:29679 biolink:NamedThing PAM16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012231 biolink:NamedThing Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuronal type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|MFN2 Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|hereditary motor and sensory neuropathy IIA2|CMT2A2A|HMSN IIa2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth neuropathy, type 2A2|Charcot-Marie-Tooth disease, neuronal, type 2A2|Charcot-Marie-Tooth neuropathy type 2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|HMSN IIA2|hereditary motor and sensory neuropathy IIa2|CMT2A2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|HMSN2A2|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2 DOID:0110155|NCIT:C150646|Orphanet:99947|OMIM:609260|ICD10:G60.0|SCTID:764850002|MESH:C563757|UMLS:C1836485 owl:Class MONDO:0012945 biolink:NamedThing amyotrophic lateral sclerosis type 11 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in FIG4|amyotrophic lateral sclerosis 11|FIG4 amyotrophic lateral sclerosis|ALS11|amyotrophic lateral sclerosis type 11 DOID:0060202|MESH:C567244|GARD:0010496|UMLS:C2675491|Orphanet:803|OMIM:612577 https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11 owl:Class MONDO:0014851 biolink:NamedThing hypercalcemia, infantile, 2 Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene. tmpte7i6ely_mondo_relaxed.owl SLC34A1 autosomal recessive infantile hypercalcemia|HCINF2|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1|hypercalcemia, infantile, type 2|hypercalcemia, infantile, 2|hypercalcemia, infantile 2 OMIM:616963|UMLS:CN774236|UMLS:CN847585|UMLS:C4310473|UMLS:CN262351 owl:Class MONDO:0014957 biolink:NamedThing language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia tmpte7i6ely_mondo_relaxed.owl LADCI|language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia|language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI UMLS:C4310678|OMIM:617182 owl:Class MONDO:0014573 biolink:NamedThing Cole-Carpenter syndrome 2 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene. tmpte7i6ely_mondo_relaxed.owl COLE-CARPENTER syndrome 2|Cole-Carpenter syndrome caused by mutation in SEC24D|SEC24D Cole-Carpenter syndrome|Cole-Carpenter syndrome type 2|Cole-Carpenter syndrome 2|CLCRP2 Orphanet:2050|OMIM:616294|UMLS:C4225382 owl:Class MONDO:0007970 biolink:NamedThing melorheostosis Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. tmpte7i6ely_mondo_relaxed.owl melorheostosis, isolated|Mel UMLS:C0025239|Orphanet:2485|NCIT:C84887|SCTID:44697002|ICD10:M85.8|OMIM:155950|MESH:D008557|MedDRA:10050284|GARD:0009474|ICD9:756.89|DOID:4253 https://rarediseases.info.nih.gov/diseases/9474/melorheostosis owl:Class MONDO:0010297 biolink:NamedThing FG syndrome 2 Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene. tmpte7i6ely_mondo_relaxed.owl FG syndrome caused by mutation in FLNA|FG syndrome 2|FG syndrome type 2|FLNA FG syndrome|FGS2 GARD:0009923|UMLS:C1845902|OMIM:300321|Orphanet:323 https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2 owl:Class MONDO:0001390 biolink:NamedThing transient refractive change tmpte7i6ely_mondo_relaxed.owl ICD9:367.81|SCTID:81519008|DOID:11850|UMLS:C0155000 owl:Class ENVO:02000109 biolink:NamedThing dust from plant parts tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15505 biolink:NamedThing MBOAT7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010299 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase partial deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. tmpte7i6ely_mondo_relaxed.owl KELLEY-Seegmiller syndrome|HPRT partial deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I|HPRT-related gout|Hprt1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|HPRT1 partial deficiency|HPRT deficiency, partial|HPRT deficiency, grade I|HPRT-related hyperuricemia|gout, HPRT-related|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|Kelley-Seegmiller syndrome SCTID:238007004|OMIM:300323|MESH:C562583|ICD9:277.2|ICD10:E79.8|Orphanet:79233|UMLS:C0268117 owl:Class HGNC:5157 biolink:NamedThing HPRT1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001595 biolink:NamedThing rectum glandular cell Glandular cell of rectal epithelium. Example: Goblet cell; enterocytes or absorptive cells; enteroendocrine and M cells. tmpte7i6ely_mondo_relaxed.owl rectal glandular cell|rectum glandular cells CALOHA:TS-1281 owl:Class HGNC:9008 biolink:NamedThing PKD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017961 biolink:NamedThing 46,XX disorder of gonadal development tmpte7i6ely_mondo_relaxed.owl UMLS:CN227225|Orphanet:325055 owl:Class OBO:CHR_9606-chr14q24.1-q24.3 biolink:NamedThing 14q24.1-q24.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class HGNC:25532 biolink:NamedThing MTPAP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014626 biolink:NamedThing spinocerebellar ataxia type 41 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. tmpte7i6ely_mondo_relaxed.owl SCA41|spinocerebellar ataxia 41|spinocerebellar ataxia type 41 OMIM:616410|UMLS:C4225158|ICD10:G11.2|Orphanet:458798|EFO:0009058|DOID:0111744 owl:Class GO:0046849 biolink:NamedThing bone remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. tmpte7i6ely_mondo_relaxed.owl bone remodelling owl:Class MONDO:0024889 biolink:NamedThing benign mesonephroma A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. tmpte7i6ely_mondo_relaxed.owl Wolffian duct adenoma|benign Mesonephroma|benign mesonephric neoplasm|mesonephric adenoma|Mesonephroma, benign (morphologic abnormality)|mesonephric neoplasm, benign|Mesonephroma, benign|mesonephric duct adenoma NCIT:C4294|ICDO:9110/0|UMLS:C0334530|DOID:2616 owl:Class MONDO:0014902 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 3 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene. tmpte7i6ely_mondo_relaxed.owl nasopharyngeal carcinoma, susceptibility to, type 3|nasopharyngeal carcinoma, susceptibility to, 3|MST1R nasopharyngeal carcinoma|NPCA3|susceptibility to nasopharyngeal carcinoma 3|nasopharyngeal carcinoma caused by mutation in MST1R|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3 OMIM:617075 owl:Class MONDO:0010574 biolink:NamedThing syndromic X-linked intellectual disability 5 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. tmpte7i6ely_mondo_relaxed.owl Pettigrew syndrome|intellectual disability, X-linked, syndromic, fried type|MRX59|X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|fried syndrome|MRXS21|intellectual disability, X-linked, syndromic 21|X-linked intellectual disability 59|PETTIGREW syndrome|mental retardation, X-linked, syndromic, fried type|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|intellectual disability, X-linked 59|syndromic X-linked mental retardation 21|intellectual disability, X-linked, syndromic 5|syndromic X-linked mental retardation fried type|syndromic X-linked intellectual disability type 5|syndromic X-linked intellectual disability fried type|X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome|mental retardation, X-linked, syndromic 5|MRXS5|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|PGS|mental retardation X-linked syndromic 5|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|intellectual disability X-linked syndromic 5|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked syndromic 5|syndromic X-linked intellectual disability 21|X-linked mental retardation 59|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|mental retardation, X-linked 59|intellectual disability, X-linked syndromic 5|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|mental retardation, X-linked, syndromic 21 Orphanet:85329|ICD10:Q87.8|OMIM:304340|Orphanet:85335|UMLS:C0796254|SCTID:719139003|NCIT:C124839|UMLS:CN206181|Orphanet:1568|GARD:0008520|ICD10:Q23.8|DOID:0060800 Editor note: check relationship to friend syndrome owl:Class MONDO:0020245 biolink:NamedThing disease predisposing to age-related macular degeneration tmpte7i6ely_mondo_relaxed.owl UMLS:CN207066|Orphanet:98667 owl:Class MONDO:0013493 biolink:NamedThing acetyl-coa carboxylase deficiency tmpte7i6ely_mondo_relaxed.owl Acc1 deficiency|Acaca deficiency|ACACAD|ACETYL-CoA carboxylase deficiency UMLS:C0268603|MESH:C562678|OMIM:613933 owl:Class MONDO:0014985 biolink:NamedThing Fanconi anemia complementation group V Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. tmpte7i6ely_mondo_relaxed.owl Fanconi Anemia, complementation group type V|Fanconi anemia, complementation GROUP V|Fanconi Anemia, complementation group V|Fanconi anemia caused by mutation in MAD2L2|MAD2L2 Fanconi anemia|Fanconi Anemia, complementation Group 5|FANCV|Fanconi anemia complementation group type V OMIM:617243|DOID:0111080|UMLS:C4310652 owl:Class UBERON:0015079 biolink:NamedThing proximal carpal cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006250 biolink:NamedThing ileal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl ileum carcinoid tumor (disease)|ileal neuroendocrine tumor G1|ileal carcinoid tumor|grade 1 neuroendocrine neoplasm of ileum|ileal NET G1|ileum NET G1|ileum neuroendocrine tumor, well differentiated, low grade|ileum carcinoid tumor|carcinoid tumor of ileum|ileum neuroendocrine neoplasm G1|carcinoid tumor of the ileum ICD9:209.03|EFO:1000300|NCIT:C4935|UMLS:C0745216|SCTID:425318003 MONDO:0021536 owl:Class MONDO:0022011 biolink:NamedThing bobble-head doll syndrome Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. tmpte7i6ely_mondo_relaxed.owl bobble head doll syndrome|BHDS MESH:C536241|GARD:0009731 https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome owl:Class ENVO:02500026 biolink:NamedThing anthropogenic modulatory intervention process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013855 biolink:NamedThing influenza, severe, susceptibility to tmpte7i6ely_mondo_relaxed.owl influenza, severe, susceptibility to|susceptibility to severe influenza OMIM:614680 owl:Class MONDO:0100268 biolink:NamedThing peroxisome biogenesis disorder due to PEX14 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene. tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX14 defect|PEX14 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0012908 biolink:NamedThing complement component 6 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. tmpte7i6ely_mondo_relaxed.owl C6 classic complement early component deficiency|complement component 6 deficiency, subtotal|classic complement early component deficiency caused by mutation in C6|complement component 6 deficiency|C6 deficiency|C6D|C6 deficiency, subtotal DOID:0060299|Orphanet:169150|UMLS:C2676232|ICD10:D84.1|OMIM:612446 owl:Class HGNC:1339 biolink:NamedThing C6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3686 biolink:NamedThing FGF8 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7562 biolink:NamedThing MYD88 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013442 biolink:NamedThing nephronophthisis 12 Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis (disease) caused by mutation in TTC21B|TTC21B nephronophthisis (disease)|nephronophthisis 12|NPHP12|nephronophthisis type 12|Joubert syndrome 11 DOID:0111119|OMIM:613820|Orphanet:655|UMLS:C3151186 owl:Class HGNC:10250 biolink:NamedThing ROBO2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:63419 biolink:NamedThing Trichophyton concentricum tmpte7i6ely_mondo_relaxed.owl Mycoderma concentricum|Lepidophyton concentricum|Achorion concentricum|Oospora concentrica|Endodermophyton concentricum|Aspergillus concentricum GC_ID:1 ncbi_taxonomy owl:Class HGNC:10301 biolink:NamedThing RPL11 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099643 biolink:NamedThing signal release from synapse Any signal release from a synapse. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006585 biolink:NamedThing vestibular organ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000361 biolink:NamedThing red bone marrow tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004436 biolink:NamedThing ovarian myxoid liposarcoma A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. tmpte7i6ely_mondo_relaxed.owl ovary myxoid liposarcoma|myxoid liposarcoma of ovary|ovarian myxoid liposarcoma|myxoid liposarcoma of the ovary DOID:8023|NCIT:C5235|UMLS:C1335170 owl:Class NCBITaxon:11234 biolink:NamedThing Measles morbillivirus tmpte7i6ely_mondo_relaxed.owl Cell-associated subacute sclerosing panencephalitis|subacute sclerose panencephalitis virus|rougeole virus|rubeola virus|measles virus MV|subacute sclerosing panencephalitis virus, SSPEV|Subacute sclerosing panencephalitis virus|Measles virus GC_ID:1 NCBITaxon:11230 ncbi_taxonomy owl:Class UBERON:0001792 biolink:NamedThing ganglionic layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070588 biolink:NamedThing calcium ion transmembrane transport A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl calcium ion membrane transport|transmembrane calcium transport owl:Class MONDO:0019199 biolink:NamedThing interstitial granulomatous dermatitis with arthritis Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. tmpte7i6ely_mondo_relaxed.owl Ackerman dermatitis syndrome|IGDA UMLS:CN205782|Orphanet:79099 owl:Class MONDO:0013021 biolink:NamedThing sterile multifocal osteomyelitis with periostitis and pustulosis An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. tmpte7i6ely_mondo_relaxed.owl Interleukin-1 receptor antagonist deficiency|Interleukin 1 receptor antagonist deficiency|OMPP|DIRA|deficiency of the Interleukin-1 receptor antagonist|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|deficiency of interleukin-1 receptor antagonist NCIT:C119056|OMIM:612852|MESH:C557815|UMLS:C2748507|GARD:0010516|Orphanet:210115 owl:Class UBERON:0036286 biolink:NamedThing wall of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015055 biolink:NamedThing pubic endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24245 biolink:NamedThing DRC1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019226 biolink:NamedThing transmission of nerve impulse The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. tmpte7i6ely_mondo_relaxed.owl signal transmission along a neuron|conduction of nerve impulse owl:Class MONDO:0044767 biolink:NamedThing childhood adrenal gland pheochromocytoma A rare pheochromocytoma of the adrenal gland that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood adrenal gland pheochromocytoma|malignant childhood adrenal gland pheochromocytoma|pheochromocytoma, childhood GARD:0009368|DOID:0070325|GARD:9368|NCIT:C118822|GTR:AN0102113|UMLS:CN036354 owl:Class UBERON:0007414 biolink:NamedThing nucleus of midbrain tegmentum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005709 biolink:NamedThing common cold An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. tmpte7i6ely_mondo_relaxed.owl acute nasopharyngitis [common cold]|nasopharyngitis - acute|acute coryza|acute rhinitis|acute nasopharyngitis|rhino-sinusitis|acute viral rhinopharyngitis|nasopharyngitis, acute SCTID:82272006|NCIT:C34500|ICD10:J00|EFO:0007214|UMLS:C0009443|DOID:10459|ICD9:460|MESH:D003139 owl:Class MONDO:0019360 biolink:NamedThing rickettsialpox tmpte7i6ely_mondo_relaxed.owl Rickettsia akari spotted fever|vesicular rickettsiosis SCTID:75096007|DOID:11103|MedDRA:10039137|UMLS:C0035597|Orphanet:83312|ICD9:083.2|ICD10:A79.1 owl:Class MONDO:0014691 biolink:NamedThing Noonan syndrome 9 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. tmpte7i6ely_mondo_relaxed.owl Noonan syndrome 9|Noonan syndrome caused by mutation in SOS2|Noonan syndrome type 9|SOS2 Noonan syndrome|NS9 UMLS:C4225282|OMIM:616559|Orphanet:648|DOID:0060587 owl:Class MONDO:0012728 biolink:NamedThing Brugada syndrome 2 Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene. tmpte7i6ely_mondo_relaxed.owl BRGDA2|Brugada syndrome type 2|Brugada syndrome 2|GPD1L Brugada syndrome|Brugada syndrome caused by mutation in GPD1L UMLS:C2673193|DOID:0110219|ICD10:I49.8|MESH:C567087|Orphanet:130|OMIM:611777 owl:Class HGNC:28956 biolink:NamedThing GPD1L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003856 biolink:NamedThing adult malignant hemangiopericytoma A malignant hemangiopericytoma occurring in the adult population. tmpte7i6ely_mondo_relaxed.owl adult hemangiopericytoma, malignant|malignant adult hemangiopericytoma|hemangiopericytoma, malignant of adults NCIT:C7946|DOID:6332|UMLS:C0279547 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class UBERON:0009506 biolink:NamedThing mesenchyme of middle ear tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006769 biolink:NamedThing gastroparesis Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. tmpte7i6ely_mondo_relaxed.owl gastroparalysis|gastroparesis (disease)|gastroparesis|gastric atonia|gastroparesis syndrome gastroparesis (disease) ICD10:K31.84|SCTID:196753007|HP:0002578|MESH:D018589|NCIT:C80512|MedDRA:10018043|ICD9:536.3|UMLS:C0152020|DOID:11914|EFO:1000948 owl:Class MONDO:0014615 biolink:NamedThing trichothiodystrophy 2, photosensitive tmpte7i6ely_mondo_relaxed.owl trichothiodystrophy 2, photosensitive|TTD2 OMIM:616390|UMLS:C4225344 owl:Class HGNC:3435 biolink:NamedThing ERCC3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035441 biolink:NamedThing cell migration involved in vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004386 biolink:NamedThing epiphysis of ulna tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11320 biolink:NamedThing Influenza A virus tmpte7i6ely_mondo_relaxed.owl FLUAV|Human Influenza A Virus|Influenza virus type A GC_ID:1 ncbi_taxonomy owl:Class GO:0045914 biolink:NamedThing negative regulation of catecholamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpte7i6ely_mondo_relaxed.owl inhibition of catecholamine metabolic process|down-regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|downregulation of catecholamine metabolic process|down regulation of catecholamine metabolic process owl:Class UBERON:0010284 biolink:NamedThing lacrimal punctum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013717 biolink:NamedThing asphyxiating thoracic dystrophy 5 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. tmpte7i6ely_mondo_relaxed.owl Jeune syndrome caused by mutation in WDR19|SRTD5|short-rib thoracic dysplasia 5 with or without polydactyly|WDR19 Jeune syndrome|asphyxiating thoracic dystrophy type 5|asphyxiating thoracic dystrophy 5|ATD5 OMIM:614376|Orphanet:474|ICD10:Q77.2|UMLS:C3280598|DOID:0110089 owl:Class CL:0002015 biolink:NamedThing Kit-negative, Ly-76 high polychromatophilic erythroblast A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpte7i6ely_mondo_relaxed.owl late basophilic and polychromatophilic erythroblast tmeehan 2010-04-26T10:53:11Z cell owl:Class CL:0002014 biolink:NamedThing Kit-negative, Ly-76 high basophilic erythroblast A basophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpte7i6ely_mondo_relaxed.owl Cell surface markers are associated with mouse cells. tmeehan 2010-04-26T10:41:22Z cell owl:Class MONDO:0011913 biolink:NamedThing Alzheimer disease 3 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. tmpte7i6ely_mondo_relaxed.owl early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1|AD3|Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|Alzheimer disease type 3|Alzheimer's disease 3|PSEN1 early-onset autosomal dominant Alzheimer disease|Alzheimer disease familial 3|Alzheimer disease 3|Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer disease, familial, 3|Alzheimer disease 3, early-onset|familial Alzheimer disease, type 3|Alzheimer disease early onset type 3|familial Alzheimer's disease, type 3|AD|Alzheimer's disease type 3|Alzheimer disease 3, early onset MESH:C536598|GARD:0009468|NCIT:C123412|DOID:0110042|OMIM:607822 owl:Class UBERON:0004783 biolink:NamedThing gall bladder serosa tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:28112 biolink:NamedThing nickel atom Chemical element (nickel group element atom) with atomic number 28. tmpte7i6ely_mondo_relaxed.owl Nickel|Ni|niccolum|28Ni|nickel|Raney alloy|niquel owl:Class MONDO:0001536 biolink:NamedThing vaginal leiomyoma A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl vagina leiomyoma|leiomyoma of the vagina|leiomyoma of vagina|vaginal leiomyoma NCIT:C6373|UMLS:C1336939|DOID:125 owl:Class GO:0003872 biolink:NamedThing 6-phosphofructokinase activity Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. tmpte7i6ely_mondo_relaxed.owl phospho-1,6-fructokinase activity|6-phosphofructose 1-kinase activity|nucleotide triphosphate-dependent phosphofructokinase activity|D-fructose-6-phosphate 1-phosphotransferase activity|fructose 6-phosphate kinase activity|phosphofructokinase I activity|fructose 6-phosphokinase activity|ATP-dependent phosphofructokinase activity|phosphohexokinase activity|6-phosphofructokinase reduction|PFK|phosphofructokinase (phosphorylating)|ATP:D-fructose-6-phosphate 1-phosphotransferase activity owl:Class MONDO:0013957 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). tmpte7i6ely_mondo_relaxed.owl MSMD due to partial interferon regulatory factor 8 deficiency|MSMD due to partial IRF8 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8|IMD32A|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|IRF8 deficiency, autosomal dominant|immunodeficiency 32A|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|immunodeficiency type 32A ICD10:D84.8|OMIM:614893|UMLS:C3808589|Orphanet:319600 owl:Class MONDO:0008334 biolink:NamedThing psoriasis 1, susceptibility to Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene. tmpte7i6ely_mondo_relaxed.owl HLA-C psoriasis|psoriasis caused by mutation in HLA-C|PSORS1|psoriasis 1, susceptibility to|susceptibility to psoriasis 1 OMIM:177900|DOID:0111286 owl:Class UBERON:0035039 biolink:NamedThing rectal artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1330 biolink:NamedThing MYOZ2 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00001999 biolink:NamedThing marine water body A significant accumulation of water which is part of a marine biome. tmpte7i6ely_mondo_relaxed.owl body of marine water|marine waterbody owl:Class HGNC:8803 biolink:NamedThing PDGFRA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30172 biolink:NamedThing STRADA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011217 biolink:NamedThing desmosterolosis Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. tmpte7i6ely_mondo_relaxed.owl desmosterolosis SCTID:709490002|OMIM:602398|GARD:0010283|ICD9:272.8|UMLS:C1865596|Orphanet:35107|ICD10:Q87.8|MESH:C566555 https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis owl:Class HGNC:939 biolink:NamedThing BAG3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33780 biolink:NamedThing beryllium molecular entity tmpte7i6ely_mondo_relaxed.owl beryllium compounds|beryllium molecular entities owl:Class MONDO:0008379 biolink:NamedThing retinitis pigmentosa 10 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 10|RP10|retinitis pigmentosa caused by mutation in IMPDH1|retinitis pigmentosa type 10|IMPDH1 retinitis pigmentosa UMLS:C1867299|MESH:C566715|OMIM:180105|ICD10:H35.5|DOID:0110388 owl:Class HGNC:6052 biolink:NamedThing IMPDH1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2600 biolink:NamedThing CYP21A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004255 biolink:NamedThing Wolffian adnexal tumor A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass. tmpte7i6ely_mondo_relaxed.owl Wolffian adenoma|Wolffian adnexal neoplasm|Wolffian adnexal tumor|FATWO|Wolffian tumor|WAT|female adnexal tumor of probable Wolffian origin UMLS:C1520159|NCIT:C40141|MESH:C536741|DOID:7514|GARD:0008680 owl:Class HGNC:609 biolink:NamedThing APOC2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0033001 biolink:NamedThing Fc-gamma receptor III complex A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. tmpte7i6ely_mondo_relaxed.owl IgG receptor complex|immunoglobulin G receptor complex|FcgRIII complex owl:Class HGNC:4827 biolink:NamedThing HBB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000304 biolink:NamedThing penicilliosis A disease caused by infection with Talaromyces marneffei. tmpte7i6ely_mondo_relaxed.owl Talaromyces marneffei disease or disorder|infection caused by Talaromyces marneffei|infection caused by Penicillium marneffei|Penicillium marneffei infectious disease|infection due to Penicillium marneffei|Talaromyces marneffei infectious disease|Talaromyces marneffei caused disease or disorder DOID:0050288|SCTID:713315007|SCTID:372936000|UMLS:C1274008 owl:Class NCBITaxon:37727 biolink:NamedThing Talaromyces marneffei tmpte7i6ely_mondo_relaxed.owl Penicillium marneffei GC_ID:1 ncbi_taxonomy owl:Class HGNC:10898 biolink:NamedThing SKIV2L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009397 biolink:NamedThing neonatal severe primary hyperparathyroidism Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. tmpte7i6ely_mondo_relaxed.owl Nsph|neonatal severe hyperparathyroidism|NSHPT|hyperparathyroidism, neonatal severe|hyperparathyroidism, neonatal severe primary UMLS:C1832615|OMIM:239200|GARD:0002838|Orphanet:417|SCTID:715218009|NCIT:C131853|MESH:C563375|ICD10:E21.0 owl:Class UBERON:0002928 biolink:NamedThing dentate gyrus polymorphic layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004001 biolink:NamedThing compartment syndrome Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. tmpte7i6ely_mondo_relaxed.owl compartmental syndrome|compartment syndrome ICD9:958.8|NCIT:C118422|DOID:682|ICD10:T79.A0|GARD:0006141|SCTID:111245009|UMLS:C0009492|ICD9:958.90|MESH:D003161 https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome owl:Class MONDO:0014475 biolink:NamedThing spinocerebellar ataxia type 40 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 40|spinocerebellar ataxia 40|SCA40 UMLS:CN219009|Orphanet:423275|OMIM:616053|ICD10:G11.8|GARD:0012371|EFO:0009057|UMLS:C4518336|SCTID:734020000|UMLS:CN237494|DOID:0050986 owl:Class HGNC:19967 biolink:NamedThing CCDC88C tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10545 biolink:NamedThing MSMO1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq biolink:NamedThing Xq (Human) tmpte7i6ely_mondo_relaxed.owl 156040895 61000000 hg38 owl:Class CL:0002507 biolink:NamedThing langerin-positive lymph node dendritic cell A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-01-21T01:57:00Z cell owl:Class MONDO:0002760 biolink:NamedThing bladder squamous cell carcinoma A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming. tmpte7i6ely_mondo_relaxed.owl epidermoid carcinoma of the bladder|bladder squamous cell cancer|bladder squamous cell carcinoma|squamous cell carcinoma of bladder|urinary bladder epidermoid carcinoma|epidermoid carcinoma of the urinary bladder|bladder epidermoid carcinoma|urinary bladder squamous cell carcinoma|BLSC|epidermoid carcinoma of bladder|epidermoid carcinoma of urinary bladder|squamous cell carcinoma of the bladder|squamous cell carcinoma of urinary bladder|squamous cell carcinoma of the urinary bladder NCIT:C4031|DOID:3742|EFO:1000130|UMLS:C0279681|SCTID:255111004|ONCOTREE:BLSC owl:Class UBERON:0001971 biolink:NamedThing gastric juice tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003281 biolink:NamedThing ovarian cystic teratoma A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. tmpte7i6ely_mondo_relaxed.owl ovary cystic teratoma DOID:5118|NCIT:C7283|UMLS:C1335155 owl:Class UBERON:0010894 biolink:NamedThing keratinous tooth tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33287 biolink:NamedThing fertilizer A fertilizer is any substance that is added to soil or water to assist the growth of plants. tmpte7i6ely_mondo_relaxed.owl fertiliser|fertilizers owl:Class ENVO:01001788 biolink:NamedThing marine ecosystem tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6318 biolink:NamedThing Trichostrongylus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2037 biolink:NamedThing Actinomycetales tmpte7i6ely_mondo_relaxed.owl PMID:10028252|PMID:28840812|GC_ID:11|PMID:16558735|PMID:19244447 NCBITaxon:85005 ncbi_taxonomy owl:Class UBERON:0004258 biolink:NamedThing back blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013755 biolink:NamedThing PYCR1-related de Barsy syndrome Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. tmpte7i6ely_mondo_relaxed.owl De Barsy syndrome B|PYCR1 de Barsy syndrome|de Barsy syndrome caused by mutation in PYCR1|PYCR1 deficiency|autosomal recessive cutis laxa type IIIB|cutis laxa, autosomal recessive, type 3B|ARCL3B|pyrroline-5-carboxylate reductase 1 deficiency|cutis laxa, autosomal recessive, type IIIB DOID:0070138|UMLS:C3280799|ICD10:Q82.8|Orphanet:2962|OMIM:614438|ICD10:Q87.8|Orphanet:293633 owl:Class HGNC:9721 biolink:NamedThing PYCR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012528 biolink:NamedThing hypogonadotropic hypogonadism 4 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in PROK2|hypogonadotropic hypogonadism 4 with or without anosmia|KAL4|Kallman syndrome 4|HH4|PROK2 hypogonadotropic hypogonadism|Kallmann syndrome 4 MESH:C565696|Orphanet:478|ICD10:E23.0|DOID:0090077|GARD:0010772|OMIM:610628|UMLS:C3552343 https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 owl:Class CL:0000737 biolink:NamedThing striated muscle cell Muscle cell which has as its direct parts myofilaments organized into sarcomeres. tmpte7i6ely_mondo_relaxed.owl FMA:86936|CALOHA:TS-2157|BTO:0002916 cell owl:Class HGNC:970 biolink:NamedThing BBS5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10682 biolink:NamedThing SDHC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012923 biolink:NamedThing congenital generalized lipodystrophy type 3 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. tmpte7i6ely_mondo_relaxed.owl lipodystrophy, Berardinelli-Seip congenital, type 3|Berardinelli-Seip congenital lipodystrophy type 3|type 3 Berardinelli-Seip congenital lipodystrophy|Berardinelli-Seip congenital lipodystrophy, type 3|CGL3|BSCL3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1|lipodystrophy, congenital generalized, type 3|CAV1 congenital generalized lipodystrophy (disease) GARD:0013389|DOID:0111137|MESH:C567282|ICD10:E88.1|Orphanet:528|UMLS:C2675861|OMIM:612526 https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3 owl:Class CHEBI:28024 biolink:NamedThing cyanic acid tmpte7i6ely_mondo_relaxed.owl Cyanic acid|nitridooxocarbonic acid|hydrogen nitridooxocarbonate|[C(N)OH]|HOCN|hydroxidonitridocarbon|Zyansaeure|Cyansaeure owl:Class UBERON:0012361 biolink:NamedThing internal anal region tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006339 biolink:NamedThing third ventricle choroid plexus stroma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006925 biolink:NamedThing digestive system gland tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14294 biolink:NamedThing SHANK3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0100512 biolink:NamedThing Low levels of vitamin D A reduced concentration of Vitamin D. tmpte7i6ely_mondo_relaxed.owl Vitamin D deficiency|Deficient in vitamin D SNOMEDCT_US:34713006|UMLS:C0042870|MSH:D014808 doelkens 2010-12-17T06:19:35Z human_phenotype owl:Class HGNC:11425 biolink:NamedThing STS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013625 biolink:NamedThing Parkinson disease 17 Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Parkinson disease 17|PARK17|VPS35 Parkinson disease|Parkinson disease caused by mutation in VPS35|Parkinson's disease 17|Parkinson disease type 17|Parkinson disease 17 DOID:0060897|Orphanet:411602|OMIM:614203|UMLS:C3280133 owl:Class HGNC:13487 biolink:NamedThing VPS35 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000317 biolink:NamedThing intestinal villus goblet cell A goblet cell that is part of the epithelium of intestinal villus. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium of intestinal villus FMA:263046 cell owl:Class MONDO:0014075 biolink:NamedThing cataract 39 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene. tmpte7i6ely_mondo_relaxed.owl CTRCT39|autosomal dominant cataract 39 multiple types|CRYGB early-onset non-syndromic cataract|cataract 39, multiple types|early-onset non-syndromic cataract caused by mutation in CRYGB Orphanet:91492|Orphanet:98994|ICD10:Q12.0|UMLS:C3808800|Orphanet:98988|DOID:0110236|Orphanet:98995|OMIM:615188 owl:Class HGNC:21558 biolink:NamedThing RSPH4A tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000176 biolink:NamedThing elevation A landform elevated above the surrounding area. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001609 biolink:NamedThing muscle fibroblast Fibroblast from muscle organ. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0643 owl:Class HGNC:4017 biolink:NamedThing FUT6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006219 biolink:NamedThing deltoid pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11p13 biolink:NamedThing 11p13 (Human) tmpte7i6ely_mondo_relaxed.owl 36400000 31000000 hg38 owl:Class N7e7455cf6cd04623bf69bec93924bba5 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0003984 biolink:NamedThing uterine tube infundibulum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017047 biolink:NamedThing infantile axonal neuropathy tmpte7i6ely_mondo_relaxed.owl ICD10:G60.8|Orphanet:2679|GARD:0002996 https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy owl:Class MONDO:0013206 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 6 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. tmpte7i6ely_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, type 6|Fuchs' endothelial dystrophy caused by mutation in ZEB1|corneal dystrophy, Fuchs endothelial, 6|corneal dystrophy, Fuchs endothelial, late-onset|FECD6|ZEB1 Fuchs' endothelial dystrophy Orphanet:98974|UMLS:C2750448|OMIM:613270 owl:Class UBERON:0003110 biolink:NamedThing otic region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25519 biolink:NamedThing ANO10 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002373 biolink:NamedThing palatine tonsil tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010023 biolink:NamedThing dorsal part of pharyngeal pouch 2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005993 biolink:NamedThing pulmonary valve anulus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009648 biolink:NamedThing eyelid subcutaneous connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29945 biolink:NamedThing TENM4 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:8386 biolink:NamedThing pregnane tmpte7i6ely_mondo_relaxed.owl pregnane owl:Class UBERON:0016896 biolink:NamedThing periosteum of long bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022425 biolink:NamedThing alpha-thalassemia-abnormal morphogenesis tmpte7i6ely_mondo_relaxed.owl homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects|Abuelo Forman Rubin syndrome GARD:0000362 https://rarediseases.info.nih.gov/diseases/362/alpha-thalassemia-abnormal-morphogenesis owl:Class CL:0000440 biolink:NamedThing melanocyte stimulating hormone secreting cell A cell of the intermediate pituitary that produces melanocyte stimulating hormone. tmpte7i6ely_mondo_relaxed.owl melanotrope|melanotroph BTO:0002277 cell owl:Class NCBITaxon:31604 biolink:NamedThing Small ruminant morbillivirus tmpte7i6ely_mondo_relaxed.owl Pseudorinderpest virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012734 biolink:NamedThing SERKAL syndrome SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. tmpte7i6ely_mondo_relaxed.owl Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs|SERKAL|SERKAL syndrome|46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs OMIM:611812|SCTID:723720008|ICD10:Q87.8|UMLS:C2678492|GARD:0010302|MESH:C567517|NCIT:C123726|Orphanet:139466 owl:Class CHEBI:50905 biolink:NamedThing teratogenic agent A role played by a chemical compound in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect. tmpte7i6ely_mondo_relaxed.owl teratogen|teratogeno|agent teratogene owl:Class MONDO:0012512 biolink:NamedThing fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 3|TSFM combined oxidative phosphorylation deficiency|encephalomyopathy, respiratory failure, and lactic acidosis|combined oxidative phosphorylation deficiency type 3|combined oxidative phosphorylation deficiency caused by mutation in TSFM|COXPD3|fatal mitochondrial disease due to COXPD3|concentric cardiomyopathy, hypotonia, and lactic acidosis Orphanet:168566|DOID:0111486|MESH:C566467|OMIM:610505|SCTID:720951008|ICD10:E88.8 owl:Class HGNC:12367 biolink:NamedThing TSFM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020741 biolink:NamedThing pyridoxine-dependent epilepsy caused by ALDH7A1 mutant tmpte7i6ely_mondo_relaxed.owl EPD|AASA dehydrogenase deficiency|pyridoxine dependency with seizures|Epd|pyridoxine-dependent epilepsy caused by ALDH7A1 mutant|pyridoxine-dependent epilepsy|epilepsy, pyridoxine-dependent UMLS:C1849508|OMIM:266100|Orphanet:3006 owl:Class UBERON:0035198 biolink:NamedThing superficial lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024300 biolink:NamedThing hypophosphatemic rickets Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. tmpte7i6ely_mondo_relaxed.owl hypophosphatemic vitamin D-resistant rickets|acquired vitamin D-resistant rickets|hypophosphatemic rickets|vitamin D-resistant rickets|hypophosphatemic Ricket|hypophosphatemic vitamin D resistant rickets|hypophosphatemia, vitamin D-resistant rickets|rickets, vitamin D resistant|rickets, vitamin D-resistant|Ricket, hypophosphatemic|Phosphopenic rickets|acquired vitamin D resistant rickets NCIT:C131449|MESH:D063730 owl:Class HP:0002148 biolink:NamedThing Hypophosphatemia An abnormally decreased phosphate concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Hypophosphataemia|Low blood phosphate level MSH:D017674|UMLS:C0085682|SNOMEDCT_US:4996001 human_phenotype owl:Class GO:0060005 biolink:NamedThing vestibular reflex A reflex process in which a response to an angular or linear acceleration stimulus begins with an afferent nerve impulse from a receptor in the inner ear and ends with the compensatory action of eye muscles. Signaling never reaches a level of consciousness. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003187 biolink:NamedThing Breast hypoplasia Underdevelopment of the breast. tmpte7i6ely_mondo_relaxed.owl Underdeveloped breasts SNOMEDCT_US:8915006|UMLS:C0266013 HP:0000784 human_phenotype owl:Class PATO:0001501 biolink:NamedThing immature A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. tmpte7i6ely_mondo_relaxed.owl underdeveloped owl:Class MONDO:0005175 biolink:NamedThing aggressive insulitis Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. tmpte7i6ely_mondo_relaxed.owl EFO:0002498 owl:Class MONDO:0004637 biolink:NamedThing aryepiglottic fold cancer A malignant neoplasm involving the aryepiglottic fold. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of aryepiglottic fold|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold|aryepiglottic fold cancer|malignant tumor aryepiglottic fold - hypopharyngeal aspect|malignant aryepiglottic fold neoplasm|cancer of aryepiglottic fold ICD10:C13.1|ICD9:148.2|DOID:8663|SCTID:187708004 owl:Class UBERON:0011363 biolink:NamedThing cranial lymph vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010880 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 2 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene. tmpte7i6ely_mondo_relaxed.owl telangiectasia, hereditary hemorrhagic, type 2|Osler Weber Rendu syndrome type 2|ORW2|hereditary hemorrhagic telangiectasia type 2|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related|hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|HHT2|telangiectasia hereditary hemorrhagic type 2|ACVRL1 hereditary hemorrhagic telangiectasia OMIM:600376|GARD:0009901|Orphanet:774 https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2 owl:Class CL:0000558 biolink:NamedThing reticulocyte An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. tmpte7i6ely_mondo_relaxed.owl CALOHA:TS-0864|BTO:0001173 cell owl:Class MONDO:0015344 biolink:NamedThing idiopathic acute transverse myelitis Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. tmpte7i6ely_mondo_relaxed.owl ATM/TM Orphanet:139423|ICD10:G37.3 owl:Class MONDO:0009492 biolink:NamedThing succinyl-CoA:3-ketoacid CoA transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. tmpte7i6ely_mondo_relaxed.owl SCOTD|Scot deficiency|succinyl-CoA:3-oxoacid CoA transferase deficiency|SCOT deficiency|succinyl-Coa:acetoacetate transferase deficiency|succinyl-CoA:3-oxoacid-CoA transferase deficiency|succinyl-CoA acetoacetate transferase deficiency|3-oxoacid CoA transferase deficiency|succinyl-Coa:3-ketoacid Coa-transferase deficiency|ketoacidosis due to Scot deficiency|OXCT1 deficiency|succinyl-CoA:3-ketoacid CoA transferase deficiency OMIM:245050|ICD9:270.8|SCTID:238004006|ICD10:E71.3|Orphanet:832|GARD:0004774|MESH:C537527 owl:Class MONDO:0014451 biolink:NamedThing focal segmental glomerulosclerosis 7 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. tmpte7i6ely_mondo_relaxed.owl focal segmental glomerulosclerosis caused by mutation in PAX2|PAX2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis type 7|focal segmental glomerulosclerosis 7|glomerulosclerosis, focal segmental, 7|FSGS7 Orphanet:656|ICD10:N04.1|DOID:0111132|UMLS:C4014925|OMIM:616002 owl:Class NBO:0000612 biolink:NamedThing communication behavior "A social behavior related to the activity of conveying information." [wikipedia:Communication] tmpte7i6ely_mondo_relaxed.owl signal exchange|communicating owl:Class UBERON:0011380 biolink:NamedThing female external urethral sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0110111 biolink:NamedThing negative regulation of animal organ morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060759 biolink:NamedThing neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures tmpte7i6ely_mondo_relaxed.owl IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome|NEDAMSS|neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Orphanet:597623|OMIM:618088 https://github.com/monarch-initiative/mondo/issues/3541 owl:Class HGNC:14282 biolink:NamedThing IRF2BPL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012786 biolink:NamedThing juvenile cataract-microcornea-renal glucosuria syndrome Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. tmpte7i6ely_mondo_relaxed.owl juvenile cataract-microcornea-renal glucosuria syndrome|cataract, juvenile, with microcornea and glucosuria|CJMG|CTRCT47|cataract, juvenile, with microcornea and glucosuria, formerly|cataract 47|cataract, juvenile, with microcornea OMIM:612018|SCTID:722457005|Orphanet:247794|DOID:0070353|MESH:C567434|UMLS:C2677587 owl:Class HGNC:23094 biolink:NamedThing SLC16A12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013447 biolink:NamedThing retinitis pigmentosa 48 Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 48|GUCA1B retinitis pigmentosa|RP48|retinitis pigmentosa caused by mutation in GUCA1B|retinitis pigmentosa 48 DOID:0110382|ICD10:H35.5|UMLS:C3151190|OMIM:613827 owl:Class UBERON:0013696 biolink:NamedThing tonsil epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005606 biolink:NamedThing hyaloid cavity tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011332 biolink:NamedThing extrinsic tongue pre-muscle mass tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9608 biolink:NamedThing PTH1R tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035839 biolink:NamedThing esophagogastric junction submucosa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005236 biolink:NamedThing osseus labyrinth vestibule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012983 biolink:NamedThing cone-rod dystrophy 12 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene. tmpte7i6ely_mondo_relaxed.owl CORD12|PROM1 cone-rod dystrophy|cone-rod dystrophy 12|cone-rod dystrophy type 12|cone-rod dystrophy caused by mutation in PROM1 OMIM:612657|MESH:C567206|UMLS:C2675210|DOID:0111019 owl:Class HP:0030852 biolink:NamedThing High pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). tmpte7i6ely_mondo_relaxed.owl UMLS:C0855323 human_phenotype owl:Class MONDO:0019437 biolink:NamedThing enthesitis-related juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. tmpte7i6ely_mondo_relaxed.owl enthesitis-related arthritis|enthesitis-related JIA|juvenile spondylarthropathy|enthesitis related arthritis, juvenile|era|juvenile enthesitis-related arthritis ICD10:M08.8|NCIT:C119024|GARD:0010969|Orphanet:85438|SCTID:410801005 https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis owl:Class MONDO:0012634 biolink:NamedThing craniofacial dysplasia - osteopenia syndrome tmpte7i6ely_mondo_relaxed.owl HMMS|hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility|Hamamy syndrome|hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility|HAMAMY syndrome UMLS:C1970027|OMIM:611174|MESH:C566988|Orphanet:314555 owl:Class MONDO:0013327 biolink:NamedThing primary hyperoxaluria type 3 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. tmpte7i6ely_mondo_relaxed.owl HP3|PH III|HOGA1 primary hyperoxaluria|primary hyperoxaluria caused by mutation in HOGA1|primary hyperoxaluria type III|hyperoxaluria, primary, type 3|hyperoxaluria, primary, type III DOID:0111672|GARD:0010738|NCIT:C123214|Orphanet:416|UMLS:C3150878|Orphanet:93600|OMIM:613616|ICD10:E74.8|SCTID:734990008 https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 owl:Class HGNC:25155 biolink:NamedThing HOGA1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006960 biolink:NamedThing ovary stroma tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017776 biolink:NamedThing nocardiosis Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. tmpte7i6ely_mondo_relaxed.owl lung nocardiosis|Nocardia infectious disease|Nocardia disease or disorder|Nocardia caused disease or disorder|Nocardia infection SCTID:29227009|ICD10:A43.1|MESH:D009617|ICD10:A43.9|Orphanet:31204|ICD10:A43.0|ICD10:A43|GARD:0007210|EFO:0007397|ICD10:A43.8|MedDRA:10029444|DOID:2312 https://rarediseases.info.nih.gov/diseases/7210/nocardiosis owl:Class HGNC:14203 biolink:NamedThing JPH3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002329 biolink:NamedThing Drowsiness Excessive daytime sleepiness. tmpte7i6ely_mondo_relaxed.owl Drowsiness|Sleepy SNOMEDCT_US:271782001|UMLS:C0013144|SNOMEDCT_US:79519003|MSH:D012894 human_phenotype owl:Class MONDO:0700122 biolink:NamedThing PBRM1-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005874 biolink:NamedThing 3rd arch pharyngeal cleft tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100102 biolink:NamedThing fetal akinesia deformation sequence 2 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene. tmpte7i6ely_mondo_relaxed.owl FADS2 DOID:0111378|OMIM:618388 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:9863 biolink:NamedThing RAPSN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013398 biolink:NamedThing acne inversa, familial, 3 Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene. tmpte7i6ely_mondo_relaxed.owl ACNINV3|acne inversa, familial, 3|PSEN1 familial acne inversa|acne inversa, familial, type 3|familial acne inversa caused by mutation in PSEN1 OMIM:613737|UMLS:C3151038 owl:Class HP:0003198 biolink:NamedThing Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. tmpte7i6ely_mondo_relaxed.owl Myopathic changes|Muscle tissue disease SNOMEDCT_US:129565002|UMLS:C0026848|MSH:D009135 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. HP:0003742|HP:0003802|HP:0003705|HP:0003569 human_phenotype owl:Class HGNC:9039 biolink:NamedThing PLA2G6 tmpte7i6ely_mondo_relaxed.owl owl:Class N5a2e8adfba37498fa4e5fb1b0b39be59 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:CHR_9606-chrXq12-q13.3 biolink:NamedThing Xq12-q13.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class UBERON:0000443 biolink:NamedThing left testicular vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004533 biolink:NamedThing left testis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1606 biolink:NamedThing CCR5 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0030186 biolink:NamedThing Kinetic tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. tmpte7i6ely_mondo_relaxed.owl Essential tremor UMLS:C0270736|MSH:D020329|MSH:D014202|UMLS:C0234376|SNOMEDCT_US:30721006|SNOMEDCT_US:609558009 human_phenotype owl:Class CL:2000085 biolink:NamedThing mononuclear cell of umbilical cord Any mononuclear cell that is part of a umbilical cord. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T20:14:16Z cell owl:Class MONDO:0016286 biolink:NamedThing adenoid cystic carcinoma of the cervix uteri A adenoid cystic carcinoma that involves the uterine cervix. tmpte7i6ely_mondo_relaxed.owl uterine cervix adenoid cystic carcinoma|cervical adenoid cystic carcinoma Orphanet:213823|ICD10:C53.0|ICD10:C53.1|ICD10:C53.8 owl:Class MONDO:0007895 biolink:NamedThing platyspondylic dysplasia, Torrance type tmpte7i6ely_mondo_relaxed.owl PLSD-T|platyspondylic dysplasia, Torrance type|Platyspondylic lethal skeletal dysplasia, Torrance type|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia, Luton type|thanatophoric dysplasia, Luton variant|lethal short-limbed Platyspondylic dwarfism, Torrance type|thanatophoric dysplasia, Torrance variant|PLSDT|thanatophoric dysplasia Torrance variant|lethal short-limbed Platyspondylic dwarfism Torrance type|Platyspondylic lethal skeletal dysplasia Torrance type MESH:C563627|OMIM:151210|ICD10:Q77.8|Orphanet:85166|GARD:0004382|DOID:0111508|UMLS:C1835437 owl:Class HGNC:341 biolink:NamedThing AGXT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002046 biolink:NamedThing alcohol abuse The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice. tmpte7i6ely_mondo_relaxed.owl alcohol dependence|alcoholic intoxication, chronic|alcohol addiction|addiction, alcohol|abuse, alcohol|ethanol abuse|dependence, alcohol|alcohol use disorder|alcohol abuse|chronic alcoholic intoxication|alcoholism|intoxication, chronic alcoholic ICD9:305.0|ICD10:F10.1|MESH:D000437|SCTID:15167005|NCIT:C20701|ICD9:305.00|DOID:1574|MESH:D019973 owl:Class UBERON:0014454 biolink:NamedThing visceral abdominal adipose tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:450 biolink:NamedThing ALX4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003387 biolink:NamedThing urethra clear cell adenocarcinoma A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. tmpte7i6ely_mondo_relaxed.owl clear cell adenocarcinoma of the urethra|urethral clear cell adenocarcinoma|urethra clear cell adenocarcinoma|clear cell adenocarcinoma of urethra NCIT:C6172|UMLS:C1336886|DOID:5307 owl:Class UBERON:0006222 biolink:NamedThing future diencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020711 biolink:NamedThing selective peripheral resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary. tmpte7i6ely_mondo_relaxed.owl PerRTH owl:Class UBERON:0037458 biolink:NamedThing hair of neck tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013677 biolink:NamedThing Emery-Dreifuss muscular dystrophy 7, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene. tmpte7i6ely_mondo_relaxed.owl EMERY-Dreifuss muscular dystrophy 7, autosomal dominant|EDMD7|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43|Emery-Dreifuss muscular dystrophy 7, autosomal dominant Orphanet:261|UMLS:C3553060|Orphanet:98853|DOID:0070252|OMIM:614302 owl:Class HGNC:6535 biolink:NamedThing LDHA tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000019 biolink:NamedThing saline lake A lake whose water contains a considerable concentration of dissolved salts. tmpte7i6ely_mondo_relaxed.owl soda lake|salina|salt lake owl:Class HGNC:4296 biolink:NamedThing GLA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021020 biolink:NamedThing Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT). tmpte7i6ely_mondo_relaxed.owl UGT deficiency type 1|Crigler-Najjar syndrome, type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|hereditary unconjugated hyperbilirubinemia type 1|hyperbilirubinemia, Crigler-Najjar type 1|Crigler Najjar syndrome, type 1|bilirubin-UGT deficiency type 1|Crigler-Najjar syndrome, type I ICD10:E80.5|UMLS:C0010324|SCTID:8933000|MedDRA:10057034|OMIM:218800|Orphanet:79234|GARD:0000047 https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1 owl:Class MONDO:0011923 biolink:NamedThing osteoarthritis susceptibility 3 Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene. tmpte7i6ely_mondo_relaxed.owl ASPN osteoarthritis|osteoarthritis susceptibility 3|osteoarthritis susceptibility type 3|osteoarthritis caused by mutation in ASPN|osteoarthritis of knee/hip|OS3 OMIM:607850 owl:Class HGNC:14872 biolink:NamedThing ASPN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011888 biolink:NamedThing immunodeficiency 67 An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. tmpte7i6ely_mondo_relaxed.owl Interleukin receptor-associated kinase deficiency|IRAK4 deficiency|invasive pneumococcal disease, protection against|IRAK-4 deficiency|immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency|invasive pneumococcal disease, recurrent isolated, type 1|invasive pneumococcal disease, recurrent isolated, 1|IRAK4D|immunodeficiency 67|IPD1 GARD:0010311|MESH:C564352|Orphanet:70592|UMLS:C1843256|UMLS:C1835828|OMIM:607676|MESH:C563662|ICD10:D84.8 owl:Class MONDO:0021543 biolink:NamedThing hemangioma of gingiva A hemangioma that involves the gingiva. tmpte7i6ely_mondo_relaxed.owl gum hemangioma|angioma of the gum|hemangioma of the gingiva|hemangioma of the gum|hemangioma of gum|gingival angioma|angioma of gum|gum angioma|angioma of the gingiva|gingival hemangioma|angioma of gingiva|gingiva hemangioma ICD9:228.09|SCTID:304990002|UMLS:C0582885|NCIT:C4831 owl:Class NCBITaxon:523103 biolink:NamedThing Trichophyton mentagrophytes tmpte7i6ely_mondo_relaxed.owl Ctenomyces mentagrophytes|Spiralia mentagrophytes|Microsporum mentagrophytes|Microides mentagrophytes|Arthroderma vanbreuseghemii|Ectotrichophyton mentagrophytes GC_ID:1 NCBITaxon:63407 ncbi_taxonomy owl:Class MONDO:0011226 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 15 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 15|autosomal dominant nonsyndromic deafness 15|deafness, autosomal dominant type 15|DFNA15|autosomal dominant nonsyndromic deafness caused by mutation in POU4F3|autosomal dominant deafness 15|POU4F3 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 15 OMIM:602459|UMLS:C1865366|ICD10:H90.3|DOID:0110546|MESH:C566545 owl:Class HGNC:32434 biolink:NamedThing SLC38A8 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:149552 biolink:NamedThing emetic Any agent that induces nausea and vomiting. tmpte7i6ely_mondo_relaxed.owl emetics owl:Class HGNC:6698 biolink:NamedThing LRP6 tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000056 biolink:NamedThing hypoploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as some chromosomes are missing. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:04000006 biolink:NamedThing concentration of carbon dioxide in seawater The concentration of carbon dioxide when measured in seawater. tmpte7i6ely_mondo_relaxed.owl owl:Class Nb80de5ab880f4d51a5a90669998eece0 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:9143 biolink:NamedThing PHOX2B tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:77425 biolink:NamedThing EC 1.1.1.188 (prostaglandin-F synthase) inhibitor An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188). tmpte7i6ely_mondo_relaxed.owl prostaglandin F synthetase inhibitors|prostaglandin 11-keto reductase inhibitor|NADPH-dependent prostaglandin D2 11-keto reductase inhibitors|prostaglandin F synthase inhibitors|prostaglandin 11-ketoreductase inhibitor|prostaglandin 11-ketoreductase inhibitors|PGD2 11-ketoreductase inhibitor|prostaglandin F synthetase inhibitor|prostaglandin D2-ketoreductase inhibitors|prostaglandin F synthase inhibitor|EC 1.1.1.188 (prostaglandin-F synthase) inhibitors|reductase, 15-hydroxy-11-oxoprostaglandin inhibitor|prostaglandin D2-ketoreductase inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitors|PGF synthetase inhibitors|PGD2 11-ketoreductase inhibitors|synthetase, prostaglandin F2alpha inhibitor|synthetase, prostaglandin F2alpha inhibitors|EC 1.1.1.188 inhibitor|PGF2alpha synthetase inhibitor|NADPH-dependent prostaglandin D2 11-keto reductase inhibitor|EC 1.1.1.188 inhibitors|prostaglandin 11-keto reductase inhibitors|PGF2alpha synthetase inhibitors|prostaglandin-D2 11-reductase inhibitors|PGF synthetase inhibitor|prostaglandin-D2 11-reductase inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitors owl:Class MONDO:0017849 biolink:NamedThing Siegler-Brewer-Carey syndrome Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. tmpte7i6ely_mondo_relaxed.owl Siegler Brewer Carey syndrome|fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys SCTID:721076000|GARD:0004867|Orphanet:3167|MESH:C537335|UMLS:C2931473 https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome owl:Class MONDO:0010184 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblC A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl methylmalonic acidemia with homocystinuria type cblC|methylmalonic aciduria with homocystinuria, type cblC|methylmalonic aciduria and homocystinuria, cblC type, digenic|methylmalonic aciduria and homocystinuria, vitamin B12-responsive|methylmalonic acidemia and homocystinuria, cblC type|methylmalonic aciduria and homocystinuria, cblC type|cblC defect|cobalamin C defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|MAHCC|cobalamin locus c variant|methylmalonic aciduria and homocystinuria type cblC|cblC - cobalamin locus c|cobalamin c disease|cobalamin C deficiency|methylmalonic acidemia with homocystinuria, type cblC|cblC|methylmalonic acidemia and homocystinuria cblC|methylmalonic aciduria and homocystinuria cblC|cblC methylmalonic acidemia and homocystinuria|vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase ICD10:E72.1|NCIT:C142174|Orphanet:79282|Orphanet:26|UMLS:CN205878|OMIM:277400|GARD:0012128|SCTID:74653006|DOID:0050715 owl:Class GO:0005901 biolink:NamedThing caveola A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. tmpte7i6ely_mondo_relaxed.owl caveolar membrane|caveolae owl:Class HGNC:29420 biolink:NamedThing RSPRY1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016810 biolink:NamedThing autosomal recessive progressive external ophthalmoplegia Autosomal recessive form of progressive external ophthalmoplegia. tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal recessive|arPEO ICD10:H49.4|Orphanet:254886|OMIM:617069|MESH:C564926|OMIM:258450 owl:Class UBERON:0011593 biolink:NamedThing maxillary tooth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016865 biolink:NamedThing Kleefstra syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl UMLS:CN202210|ICD10:Q87.8|Orphanet:261652 owl:Class UBERON:0014640 biolink:NamedThing occipital gyrus tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C68748 biolink:NamedThing HER2/Neu Positive tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001223 biolink:NamedThing parathyroid gland disorder A disease involving the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl parathyroid gland disorder|disease or disorder of parathyroid gland|disorder of parathyroid gland|disease of parathyroid glands|parathyroid disease|parathyroid gland disease or disorder|disease of parathyroid gland|parathyroid gland disease|parathyroid gland diseases|parathyroid gland disorders DOID:11201|NCIT:C26844|UMLS:C0030517|ICD9:252.9|ICD9:252|ICD10:E21.5|MESH:D010279|EFO:0005754|ICD9:252.8|SCTID:73132005 owl:Class MONDO:0014482 biolink:NamedThing intellectual disability, autosomal dominant 29 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene. tmpte7i6ely_mondo_relaxed.owl SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome|autosomal dominant mental retardation 29|intellectual disability, autosomal dominant 29|autosomal dominant non-syndromic intellectual disability 29|SETBP1 disorder|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|autosomal dominant intellectual disability 29|SETBP1-related intellectual disability|SETBP1-related disorder|MRD29|SETBP1 related developmental delay|mental retardation, autosomal dominant type 29|mental retardation, autosomal dominant 29|intellectual disability, autosomal dominant type 29 Orphanet:436151|GARD:0013379|UMLS:C4015141|DOID:0070059|OMIM:616078 owl:Class HGNC:15573 biolink:NamedThing SETBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014256 biolink:NamedThing retinitis pigmentosa 67 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 67|retinitis pigmentosa caused by mutation in NEK2|retinitis pigmentosa type 67|RP67|NEK2 retinitis pigmentosa UMLS:C3809954|ICD10:H35.5|DOID:0110359|OMIM:615565 owl:Class HGNC:7745 biolink:NamedThing NEK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009370 biolink:NamedThing L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. tmpte7i6ely_mondo_relaxed.owl L-2-HGA|L-2-hydroxyglutaric acidemia|L2HGA|L-2-hydroxyglutaric aciduria Orphanet:79314|ICD10:E72.8|UMLS:C1855995|UMLS:C3888081|GARD:0010472|SCTID:237961001|OMIM:236792|DOID:0050574 https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria owl:Class CL:0002547 biolink:NamedThing fibroblast of the aortic adventitia A fibroblast of the aortic adventitia. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T04:43:41Z cell owl:Class MONDO:0005987 biolink:NamedThing toxascariasis Infections with nematodes of the genus toxascaris. tmpte7i6ely_mondo_relaxed.owl Toxascaris caused disease or disorder|Toxascaris infectious disease|Toxascaris disease or disorder MESH:D017227|EFO:0007515|UMLS:C0040522|DOID:3107 owl:Class NCBITaxon:59263 biolink:NamedThing Toxascaris tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016472 biolink:NamedThing dracunculiasis Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). tmpte7i6ely_mondo_relaxed.owl Medina worm disease|parasitic infection caused by Dracunculus medinensis|GWD|Dracunculus medinensis disease or disorder|Dracunculosis|dracontiasis|Guinea worm infection|Dracunculus medinensis caused disease or disorder|medinensis|Guinea worm disease|infection by Dracunculus medinensis|Dracunculus medinensis infectious disease SCTID:396334002|MESH:D004320|NCIT:C84677|EFO:0007241|DOID:14418|MedDRA:10013618|GARD:0006286|Orphanet:231|UMLS:C0013100|ICD10:B72|ICD9:125.7 https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis owl:Class NCBITaxon:318479 biolink:NamedThing Dracunculus medinensis tmpte7i6ely_mondo_relaxed.owl Guinea worm|dracunculiasis worm|Guinea worm disease nematode GC_ID:1 ncbi_taxonomy owl:Class CL:0002056 biolink:NamedThing Fraction F mature B cell A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-04-30T03:01:48Z cell owl:Class MONDO:0013919 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 12 tmpte7i6ely_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, 12|epilepsy, idiopathic generalized, susceptibility to, type 12|EIG12|susceptibility to idiopathic generalized epilepsy 12 OMIM:614847|DOID:0111313 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class HGNC:10806 biolink:NamedThing SGCB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003725 biolink:NamedThing cervical nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006608 biolink:NamedThing seborrheic dermatitis A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. tmpte7i6ely_mondo_relaxed.owl seborrhea|seborrheic eczema|seborrheic dermatitis|skin seborrheic|cradle Cap|Seborrhoeic eczema|seborrheic dermatitis (disease)|Seborrhoeic dermatitis seborrheic dermatitis (disease) UMLS:C0036508|EFO:1000764|DOID:8741|ICD9:690.1|ICD10:L21.9|ICD9:690.10|ICD10:L21|HP:0001051|ICD9:706.3|NCIT:C111888|MESH:D012628 owl:Class HGNC:7883 biolink:NamedThing NOTCH3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003942 biolink:NamedThing somatic sensory system tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000458 biolink:NamedThing Anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. tmpte7i6ely_mondo_relaxed.owl Loss of smell|Lost smell MSH:D000857|UMLS:C0003126|SNOMEDCT_US:44169009 human_phenotype owl:Class OBO:CHR_9606-chr6p22 biolink:NamedThing 6p22 (Human) tmpte7i6ely_mondo_relaxed.owl 30500000 15200000 hg38 owl:Class MONDO:0013286 biolink:NamedThing immunodeficiency, common variable, 6 Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency, common variable, 6|common variable immunodeficiency caused by mutation in CD81|immunodeficiency, common variable, type 6|antibody deficiency due to CD81 defect|CVID6|CD81 common variable immunodeficiency UMLS:C3150741|Orphanet:1572|OMIM:613496 owl:Class HGNC:1701 biolink:NamedThing CD81 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004189 biolink:NamedThing esophageal tuberculosis A tuberculosis that involves the esophagus. tmpte7i6ely_mondo_relaxed.owl esophagus tuberculosis|tuberculosis of esophagus ICD9:017.80|ICD9:017.8|DOID:7332|ICD9:017.83|SCTID:15284007|UMLS:C0152902|ICD9:017.81 owl:Class Nd5c4f9e415d94e76867e1081d3c5fec3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0004457 biolink:NamedThing lactate dehydrogenase activity Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011774 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 30 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 30|DFNB30|autosomal recessive nonsyndromic deafness type 30|MYO3A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 30|autosomal recessive nonsyndromic deafness caused by mutation in MYO3A|autosomal recessive nonsyndromic deafness 30|deafness, autosomal recessive 30 MESH:C564624|DOID:0110489|UMLS:C1846784|Orphanet:90636|OMIM:607101|ICD10:H90.3 owl:Class MONDO:0014299 biolink:NamedThing schwannomatosis 2 tmpte7i6ely_mondo_relaxed.owl Schwannomatosis type 2|schwannomatosis 2|SCHWANNOMATOSIS 2|SWNTS2 UMLS:C3810283|Orphanet:93921|OMIM:615670 owl:Class MONDO:0022819 biolink:NamedThing congenital arteriovenous shunt tmpte7i6ely_mondo_relaxed.owl GARD:0006150 https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt owl:Class UBERON:2001089 biolink:NamedThing myoseptum tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp1 biolink:NamedThing Xp1 (Human) tmpte7i6ely_mondo_relaxed.owl 61000000 37800000 hg38 owl:Class CHEBI:83056 biolink:NamedThing Daphnia magna metabolite A Daphnia metabolite produced by the species Daphnia magna. tmpte7i6ely_mondo_relaxed.owl Daphnia magna metabolites owl:Class HGNC:7207 biolink:NamedThing MPDU1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004922 biolink:NamedThing developmental coordination disorder A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. tmpte7i6ely_mondo_relaxed.owl developmental dyspraxia|clumsy child syndrome|development coordination disorder UMLS:C0520947|DOID:9923|MESH:D019957|ICD10:F82|SCTID:27544004|ICD9:315.4|NCIT:C92561 owl:Class MONDO:0007052 biolink:NamedThing growth hormone secreting pituitary adenoma 1 tmpte7i6ely_mondo_relaxed.owl pituitary adenoma predisposition|pituitary adenoma 1, multiple types|PAGH1|Somatotrophinoma, familial|somatotropinoma, familial isolated|PITA1|pituitary adenoma, growth hormone-secreting, 1|familial isolated pituitary adenoma syndrome|pituitary adenoma, familial isolated|pituitary adenoma, growth hormone-secreting, type 1|acromegaly due to pituitary adenoma 1|isolated familial somatotropinoma Orphanet:96256|Orphanet:963|Orphanet:99725|Orphanet:314777|OMIM:102200|GARD:0010959 Editor note: consider splitting OMIM owl:Class HGNC:30892 biolink:NamedThing HUWE1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr6q1 biolink:NamedThing 6q1 (Human) tmpte7i6ely_mondo_relaxed.owl 105000000 59800000 hg38 owl:Class OBO:CHR_9606-chr6q biolink:NamedThing 6q (Human) tmpte7i6ely_mondo_relaxed.owl 170805979 59800000 hg38 owl:Class GO:0006860 biolink:NamedThing extracellular amino acid transport The directed extracellular movement of amino acids. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012985 biolink:NamedThing hereditary spherocytosis type 5 Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene. tmpte7i6ely_mondo_relaxed.owl spherocytosis, type 5|HS5|spherocytosis, hereditary, 5|SPH5|hereditary spherocytosis type 5|hereditary spherocytosis caused by mutation in EPB42|EPB42 hereditary spherocytosis|hereditary spherocytosis 5 UMLS:C2675192|DOID:0110920|Orphanet:822|MESH:C567202|OMIM:612690 owl:Class UBERON:0004269 biolink:NamedThing upper arm connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019878 biolink:NamedThing 3q26 microduplication syndrome 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. tmpte7i6ely_mondo_relaxed.owl Cornelia de Lange-like syndrome|trisomy 3q26|dup(3q) syndrome|dup(3)(q26) Orphanet:96095|UMLS:CN206814|ICD10:Q92.3 owl:Class OBO:CHR_9606-chr3q26 biolink:NamedThing 3q26 (Human) tmpte7i6ely_mondo_relaxed.owl 183000000 161000000 hg38 owl:Class MONDO:0010423 biolink:NamedThing hypospadias 2, X-linked tmpte7i6ely_mondo_relaxed.owl hypospadias 2, X-linked|HYSP2 MESH:C567462|OMIM:300758|Orphanet:440|UMLS:C2677879 owl:Class MONDO:0019237 biolink:NamedThing inborn disorder of pyridoxine metabolism An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. tmpte7i6ely_mondo_relaxed.owl disorder of pyridoxine metabolism|inborn pyridoxine metabolic process disorder|inborn error of pyridoxine metabolic process|rare inborn error of pyridoxine metabolic process Orphanet:79192|ICD10:G40.8|UMLS:CN227600 owl:Class HGNC:177 biolink:NamedThing ACY1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014145 biolink:NamedThing Leber congenital amaurosis 17 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis 17|GDF6 Leber congenital amaurosis|Leber congenital amaurosis type 17|LCA17|Leber congenital amaurosis caused by mutation in GDF6 DOID:0110217|UMLS:C3715164|ICD10:H35.5|OMIM:615360 owl:Class UBERON:0016509 biolink:NamedThing cavity of right ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2p13 biolink:NamedThing 2p13 (Human) tmpte7i6ely_mondo_relaxed.owl 74800000 68400000 hg38 owl:Class MONDO:0009430 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 1 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. tmpte7i6ely_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive, 1|Arhr|hypophosphatemia, autosomal recessive|autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|ARHR1|hypophosphatemic rickets, autosomal recessive, type 1|DMP1 autosomal recessive hypophosphatemic rickets Orphanet:289176|OMIM:241520|MESH:C562792|UMLS:C0342643 owl:Class UBERON:0000341 biolink:NamedThing throat tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045061 biolink:NamedThing thymic T cell selection The process of T cell selection that occurs in the thymus. tmpte7i6ely_mondo_relaxed.owl thymic T-cell selection|thymic T lymphocyte selection|thymic T-lymphocyte selection owl:Class GO:0033077 biolink:NamedThing T cell differentiation in thymus The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. tmpte7i6ely_mondo_relaxed.owl thymocyte differentiation|thymic T cell differentiation|T cell development in thymus|thymocyte cell differentiation owl:Class HGNC:8889 biolink:NamedThing PGAM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043073 biolink:NamedThing Zadik-Barak-Levin syndrome tmpte7i6ely_mondo_relaxed.owl dermoid cysts, hypothyroidism, cleft palate, and hypodontia|dermoid cysts, hypothyroidism, cleft palate and hypodontia GARD:0000340|UMLS:C2931298|MESH:C536721 owl:Class MONDO:0012326 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 42 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 42|autosomal recessive nonsyndromic deafness type 42|autosomal recessive nonsyndromic deafness caused by mutation in ILDR1|deafness, autosomal recessive 42|autosomal recessive deafness 42|deafness, autosomal recessive type 42|ILDR1 autosomal recessive nonsyndromic deafness|DFNB42 MESH:C566460|ICD10:H90.3|UMLS:C1864818|OMIM:609646|DOID:0110500 owl:Class UBERON:0003723 biolink:NamedThing vestibular nerve tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000818 biolink:NamedThing cryosphere A cryosphere is that part of a planet which is primarily composed of water is in solid form. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011494 biolink:NamedThing hyaluronan metabolism, defect 1N tmpte7i6ely_mondo_relaxed.owl hyaluronan metabolism, defect IN|hyaluronan metabolism, defect type 1N OMIM:604855|UMLS:C1858083|MESH:C565742 owl:Class OBO:CHR_9606-chr5q14 biolink:NamedThing 5q14 (Human) tmpte7i6ely_mondo_relaxed.owl 93000000 77600000 hg38 owl:Class UBERON:0004271 biolink:NamedThing outflow tract pericardium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011830 biolink:NamedThing lissencephaly due to LIS1 mutation Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. tmpte7i6ely_mondo_relaxed.owl subcortical laminar heterotopia|PAFAH1B1-related lissencephaly|lissencephaly type 1|subcortical band heterotopia|LIS1|lissencephaly, classic|lissencephaly sequence, isolated|lissencephaly 1 Orphanet:95232|Orphanet:99796|UMLS:CN228917|ICD10:Q04.3|OMIM:607432 owl:Class HGNC:8574 biolink:NamedThing PAFAH1B1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002079 biolink:NamedThing left cardiac atrium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:724 biolink:NamedThing Haemophilus tmpte7i6ely_mondo_relaxed.owl PMID:1736960|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0020581 biolink:NamedThing benign PEComa A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. tmpte7i6ely_mondo_relaxed.owl benign PEComa, not otherwise specified|benign neoplasm with perivascular epithelioid cell differentiation|benign PEComa, nos|neoplasm with perivascular epithelioid cell differentiation, benign|typical PEComa|benign PEComa UMLS:C3839685|NCIT:C121791 owl:Class MONDO:8000004 biolink:NamedThing salmonella discitis Discitis caused by infection with Salmonella. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23657 biolink:NamedThing GNE tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6286 biolink:NamedThing Dirofilaria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:16378 biolink:NamedThing OTOA tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013493 biolink:NamedThing abdominal fascia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060671 biolink:NamedThing epilepsy, juvenile myoclonic, susceptibility to, 10 tmpte7i6ely_mondo_relaxed.owl epilepsy, juvenile myoclonic, susceptibility to, 10|EJM10 DOID:0111325|OMIM:617924 owl:Class NCBITaxon:122277 biolink:NamedThing Pectobacterium tmpte7i6ely_mondo_relaxed.owl PMID:11155980|GC_ID:11|PMID:9779605 ncbi_taxonomy owl:Class OBO:CHR_9606-chr3q27.3 biolink:NamedThing 3q27.3 (Human) tmpte7i6ely_mondo_relaxed.owl 188200000 186300000 hg38 owl:Class OBO:CHR_9606-chr15q1 biolink:NamedThing 15q1 (Human) tmpte7i6ely_mondo_relaxed.owl 44500000 19000000 hg38 owl:Class HGNC:19857 biolink:NamedThing ISCA2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000206 biolink:NamedThing chemoreceptor cell A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood. tmpte7i6ely_mondo_relaxed.owl cell owl:Class OBO:CHR_9606-chr6p2 biolink:NamedThing 6p2 (Human) tmpte7i6ely_mondo_relaxed.owl 46200000 0 hg38 owl:Class MONDO:0004525 biolink:NamedThing scabies A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. tmpte7i6ely_mondo_relaxed.owl sarcoptic itch|infestation by Sarcoptes scabiei|infestation by Sarcoptes scabiei var hominis|Sarcoptes scabiei disease or disorder|Sarcoptes scabiei infectious disease|Sarcoptes scabiei caused disease or disorder SCTID:128869009|ICD10:B86|NCIT:C34998|ICD9:133.0|DOID:8295|MESH:D012532|UMLS:C0036262 owl:Class NCBITaxon:52283 biolink:NamedThing Sarcoptes scabiei tmpte7i6ely_mondo_relaxed.owl Sarcoptes scabiei type suis|Sarcoptes scabiei var. wombati|Sarcoptes scabiei var. canis|Sarcoptes scabiei var. nyctereutis|Sarcoptes scabiei var. chimp|Sarcoptes scabiei type wombati|Sarcoptes scabiei var. suis|Sarcoptes scabiei type chimp|Sarcoptes scabiei var. wallaby|Sarcoptes scabiei type canis|Sarcoptes scabiei type hominis|Sarcoptes scabiei type wallaby|Sarcoptes scabiei var. hominis GC_ID:1 NCBITaxon:268762|NCBITaxon:337908|NCBITaxon:197185|NCBITaxon:268761|NCBITaxon:198574|NCBITaxon:268763 ncbi_taxonomy owl:Class UBERON:0012074 biolink:NamedThing bony part of hard palate tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11q2 biolink:NamedThing 11q2 (Human) tmpte7i6ely_mondo_relaxed.owl 135086622 93000000 hg38 owl:Class GO:0006959 biolink:NamedThing humoral immune response An immune response mediated through a body fluid. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011955 biolink:NamedThing left hepatic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012054 biolink:NamedThing myocoele tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003082 biolink:NamedThing myotome tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016843 biolink:NamedThing 20q13.33 microdeletion syndrome 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. tmpte7i6ely_mondo_relaxed.owl monosomy 20q13.33|Del(20)(q13.33) UMLS:C4518823|ICD10:Q93.5|SCTID:733520002|UMLS:CN202183|Orphanet:261311 owl:Class MONDO:0024630 biolink:NamedThing defective phagocytic cell chemotaxis tmpte7i6ely_mondo_relaxed.owl defective phagocytic cell chemotaxis SCTID:234580003|UMLS:C0398735|ICD9:279.8 owl:Class MONDO:0007619 biolink:NamedThing isolated congenital adermatoglyphia Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. tmpte7i6ely_mondo_relaxed.owl fingerprints, absence of|congenital absence of fingerprints|ADG|adermatoglyphia|isolated congenital adermatoglyphia|ADERM|immigration delay disease|absence of fingerprints OMIM:136000|Orphanet:289465|MESH:C565010|ICD10:Q82.8|GARD:0012550|DOID:0111357|SCTID:763748007 owl:Class MONDO:0013612 biolink:NamedThing Geleophysic dysplasia 2 Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene. tmpte7i6ely_mondo_relaxed.owl geleophysic dysplasia caused by mutation in FBN1|GPHYSD2|Geleophysic dysplasia 2|FBN1 geleophysic dysplasia|Geleophysic dysplasia type 2|GELEOPHYSIC dysplasia 2 OMIM:614185|DOID:0111726|UMLS:C3280054|Orphanet:2623 owl:Class UBERON:0001302 biolink:NamedThing right uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005376 biolink:NamedThing membranous glomerulonephritis A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. tmpte7i6ely_mondo_relaxed.owl membranous Glomerulonephropathy|membranous nephropathy ICD9:582.1|DOID:10976|EFO:0004254|ICD9:583.1|UMLS:C0017665|NCIT:C34645|MESH:D015433|ICD10:N03.2|SCTID:77182004 owl:Class MONDO:0012405 biolink:NamedThing polyposis syndrome, hereditary mixed, 2 Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene. tmpte7i6ely_mondo_relaxed.owl polyposis syndrome, hereditary mixed, type 2|hereditary mixed polyposis syndrome caused by mutation in BMPR1A|polyposis syndrome, hereditary mixed, 2|BMPR1A hereditary mixed polyposis syndrome|HMPS2 DOID:0111686|Orphanet:157794|OMIM:610069|UMLS:C1864730|MESH:C566451 owl:Class HGNC:1076 biolink:NamedThing BMPR1A tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000676 biolink:NamedThing contaminated air Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem. tmpte7i6ely_mondo_relaxed.owl owl:Class N2e35aeb7c732490d802a778fbe7d05d2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0003560 biolink:NamedThing Muscular dystrophy The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. tmpte7i6ely_mondo_relaxed.owl Muscle biopsy shows dystrophic changes SNOMEDCT_US:193225000|UMLS:C1864711|SNOMEDCT_US:73297009|MSH:D009136|UMLS:C0026850 Muscular dystrophy can be demonstrated by muscle biopsy. HP:0003544|HP:0003806 human_phenotype owl:Class HGNC:17043 biolink:NamedThing NIPA1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5208 biolink:NamedThing HSD11B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019867 biolink:NamedThing mosaic trisomy 8 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. tmpte7i6ely_mondo_relaxed.owl Warkany syndrome|Mosaic trisomy chromosome 8|trisomy 8 mosaicism|Mosaic trisomy type 8 GARD:0005359|ICD10:Q92.1|MedDRA:10053916|MESH:C537940|SCTID:717335009|Orphanet:96061 https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8 owl:Class MONDO:0012943 biolink:NamedThing retinitis pigmentosa 46 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa, autosomal recessive, Idh3B-related|IDH3B retinitis pigmentosa|RP46|retinitis pigmentosa caused by mutation in IDH3B|retinitis pigmentosa 46|retinitis pigmentosa type 46 Orphanet:791|MESH:C567249|ICD10:H35.5|OMIM:612572|UMLS:C2675496|DOID:0110409 owl:Class HGNC:5385 biolink:NamedThing IDH3B tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004905 biolink:NamedThing Low levels of vitamin A A reduced concentration of vitamin A. tmpte7i6ely_mondo_relaxed.owl Vitamin A deficiency SNOMEDCT_US:72000004|MSH:D014802|UMLS:C0042842 human_phenotype owl:Class HGNC:26551 biolink:NamedThing DZIP1L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012534 biolink:NamedThing combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. tmpte7i6ely_mondo_relaxed.owl COXPD4|combined oxidative phosphorylation deficiency type 4|combined oxidative phosphorylation deficiency caused by mutation in TUFM|TUFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation defect type 4|combined oxidative phosphorylation deficiency 4 MESH:C565690|DOID:0111494|ICD10:E88.8|SCTID:766876004|UMLS:C1857682|Orphanet:254925|OMIM:610678 owl:Class HGNC:12420 biolink:NamedThing TUFM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013188 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene. tmpte7i6ely_mondo_relaxed.owl CAMRQ3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|dysequilibrium syndrome caused by mutation in CA8|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|CA8 dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3 Orphanet:1766|OMIM:613227|MESH:C567690|UMLS:C2750509 owl:Class HGNC:1382 biolink:NamedThing CA8 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18865 biolink:NamedThing KCNT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001942 biolink:NamedThing generalized anxiety disorder An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. tmpte7i6ely_mondo_relaxed.owl GAD EFO:1001892|ICD9:300.02|ICD10:F41.1|DOID:14320|NCIT:C92622|SCTID:21897009 owl:Class HGNC:25947 biolink:NamedThing KLHL24 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015274 biolink:NamedThing chronic beryllium disease Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. tmpte7i6ely_mondo_relaxed.owl berylliosis|chronic pulmonary berylliosis|chronic beryllium lung disease|beryllium disease|reversible berylliosis|Beryllliosis|beryllium poisoning|chronic berylliosis|Subacute berylliosis|acute berylliosis ICD9:503|EFO:0007168|MedDRA:10004485|ICD10:J63.2|DOID:10322|GARD:0000867|Orphanet:133|SCTID:18121009|MESH:D001607 owl:Class GO:1902113 biolink:NamedThing nucleotide phosphorylation involved in DNA repair Any nucleotide phosphorylation that is involved in DNA repair. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12572 biolink:NamedThing UNG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008319 biolink:NamedThing protoporphyria, erythropoietic, 1 Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. tmpte7i6ely_mondo_relaxed.owl erythropoietic protoporphyria|ferrochelatase deficiency|EPP|protoporphyria, erythropoietic, 1|protoporphyria, erythropoietic|Erythrohepatic protoporphyria|heme synthetase deficiency|EPP1 OMIM:177000|Orphanet:79278|NCIT:C84698|GARD:0004527 owl:Class HGNC:3647 biolink:NamedThing FECH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012784 biolink:NamedThing autosomal recessive ataxia due to ubiquinone deficiency This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. tmpte7i6ely_mondo_relaxed.owl ARCA2|coenzyme Q10 deficiency, primary, type 4|spinocerebellar ataxia, autosomal recessive 9|autosomal recessive cerebellar ataxia type 2|autosomal recessive ataxia due to coenzyme Q10 deficiency|SCAR9|autosomal recessive spinocerebellar ataxia 9|COQ10D4|autosomal recessive spinocerebellar ataxia type 9|coenzyme Q10 deficiency, primary, 4 UMLS:C2677589|OMIM:612016|UMLS:C4511089|DOID:0070241|GARD:0010294|Orphanet:139485|ICD10:G11.1|SCTID:725394006|MESH:C567436 owl:Class HGNC:16812 biolink:NamedThing COQ8A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007037 biolink:NamedThing mechanosensory system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020783 biolink:NamedThing capillary malformation-arteriovenous malformation 1 tmpte7i6ely_mondo_relaxed.owl CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1|CMAVM1|capillary malformation-arteriovenous malformation 1|Capillary Malformation-Arteriovenous Malformation OMIM:608354 owl:Class HGNC:9871 biolink:NamedThing RASA1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8724 biolink:NamedThing PCK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005258 biolink:NamedThing autism spectrum disorder A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. tmpte7i6ely_mondo_relaxed.owl pervasive developmental disorder - not otherwise specified|autism spectrum disorder|autistic spectrum disorder|PDD|atypical autism|pervasive developmental disorders Orphanet:106|DOID:0060041|SCTID:408856003|NCIT:C88412|EFO:0003756|EFO:0003759|OMIM:209850 owl:Class HGNC:20626 biolink:NamedThing CHD7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018326 biolink:NamedThing ilioischiadic foramen tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001651 biolink:NamedThing right pulmonary artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060785 biolink:NamedThing regulation of apoptosis involved in tissue homeostasis Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7717 biolink:NamedThing NDUFV2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:29171 biolink:NamedThing Dictyocaulus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001977 biolink:NamedThing Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). tmpte7i6ely_mondo_relaxed.owl Abnormal blood clotting|Abnormal blood clot UMLS:C4025731 human_phenotype owl:Class MONDO:0019493 biolink:NamedThing primary adult heart tumor Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms). tmpte7i6ely_mondo_relaxed.owl adult cardiac tumor|adult heart tumor Orphanet:874|UMLS:C4275152|ICD10:C38.0|SCTID:715403006|UMLS:CN206280|ICD10:D15.1 owl:Class UBERON:0010074 biolink:NamedThing chromaffin system tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002302 biolink:NamedThing decreased process quality A quality of a process that has a value that is decreased compared to normal or average. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007490 biolink:NamedThing keratin-based acellular structure tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002507 biolink:NamedThing keratinous A composition quality inhering in a bearer by virtue of the bearer's consisting of keratin. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005321 biolink:NamedThing mesonephric smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001935 biolink:NamedThing Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced. tmpte7i6ely_mondo_relaxed.owl Microcytic anaemia MSH:C562385|SNOMEDCT_US:234349007|UMLS:C0085576 In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). human_phenotype owl:Class HGNC:28434 biolink:NamedThing CCNQ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007552 biolink:NamedThing pretibial dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa dystrophica, pretibial|Deb, pretibial|dystrophic epidermolysis bullosa, pretibial|pretibial epidermolysis bullosa|DEB-Pt|pretibial DEB|epidermolysis bullosa, pretibial Orphanet:79410|MESH:C535494|OMIM:131850|SCTID:67653003|ICD9:757.39|ICD10:Q81.2|GARD:0002155 owl:Class HGNC:1550 biolink:NamedThing CBS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012348 biolink:NamedThing maturity-onset diabetes of the young type 8 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene. tmpte7i6ely_mondo_relaxed.owl diabetes-pancreatic exocrine dysfunction syndrome|diabetes and pancreatic exocrine|maturity-onset diabetes of the young, type 8|diabetes and pancreatic exocrine dysfunction|diabetes mellitus MODY type 8|MODY8|CEL maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|MODY type 8|maturity-onset diabetes of the young (disease) caused by mutation in CEL|maturity-onset diabetes of the young type 8 with exocrine dysfunction|type 8 maturity-onset diabetes of the young|DPED SCTID:609575003|GARD:0010662|Orphanet:552|DOID:0111105|MESH:C565225|OMIM:609812 https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8 owl:Class CL:0001035 biolink:NamedThing bone cell A connective tissue cell found in bone. tmpte7i6ely_mondo_relaxed.owl adiehl 2011-11-16T04:28:16Z cell owl:Class GO:0003039 biolink:NamedThing detection of reduced oxygen by carotid body chemoreceptor signaling The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in a carotid body. tmpte7i6ely_mondo_relaxed.owl detection of reduced oxygen by carotid body chemoreceptor signalling owl:Class CL:0002035 biolink:NamedThing Slamf1-negative multipotent progenitor cell A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative. tmpte7i6ely_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:33Z cell owl:Class HGNC:4801 biolink:NamedThing HADHA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:319 biolink:NamedThing ACAN tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:12870 biolink:NamedThing Variola major virus tmpte7i6ely_mondo_relaxed.owl variola major virus VAR GC_ID:1 NCBITaxon:12869 ncbi_taxonomy owl:Class MONDO:0007683 biolink:NamedThing Grant syndrome Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia|Grant syndrome MESH:C537293|ICD10:Q87.5|SCTID:723827003|UMLS:C1841835|OMIM:138930|Orphanet:2097|GARD:0002559 https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome owl:Class HGNC:811 biolink:NamedThing ATP2A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003443 biolink:NamedThing thoracic cavity nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013121 biolink:NamedThing proximal epiphysis of phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013137 biolink:NamedThing choroidal dystrophy, central areolar 2 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpte7i6ely_mondo_relaxed.owl PRPH2 central areolar choroidal dystrophy|choroidal dystrophy, central areolar type 2|CACD2|central areolar choroidal dystrophy caused by mutation in PRPH2|macular dystrophy, progressive|choroidal dystrophy, central areolar 2 UMLS:C2751290|Orphanet:75377|OMIM:613105|MESH:C567750 owl:Class MONDO:0011031 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 10 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene. tmpte7i6ely_mondo_relaxed.owl DFNA10|deafness, autosomal dominant 10|autosomal dominant deafness 10|autosomal dominant nonsyndromic deafness caused by mutation in EYA4|autosomal dominant nonsyndromic deafness type 10|autosomal dominant nonsyndromic deafness 10|deafness, autosomal dominant type 10|EYA4 autosomal dominant nonsyndromic deafness MESH:C563354|OMIM:601316|UMLS:C1832476|DOID:0110542|ICD10:H90.3 owl:Class CL:1000507 biolink:NamedThing kidney tubule cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001020 cell owl:Class HGNC:6143 biolink:NamedThing ITGA7 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002527 biolink:NamedThing pancreatic lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:610 biolink:NamedThing APOC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013807 biolink:NamedThing congenital stationary night blindness 1E Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene. tmpte7i6ely_mondo_relaxed.owl congenital stationary night blindness type 1E|CSNB1E|congenital stationary night blindness caused by mutation in GPR179|congenital stationary night blindness 1E autosomal recessive|congenital stationary night blindness 1E|night blindness, congenital stationary, type 1E|GPR179 congenital stationary night blindness|Csnb, complete, autosomal recessive OMIM:614565|UMLS:C3281215|DOID:0110869 owl:Class HGNC:31371 biolink:NamedThing GPR179 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013906 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A4 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene. tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, hypomaturation type, IIA4|ODAPH amelogenesis imperfecta|amelogenesis imperfecta hypomaturation type IIA4|amelogenesis imperfecta type IIA4|amelogenesis imperfecta caused by mutation in ODAPH|AI2A4 UMLS:C3553830|Orphanet:100033|DOID:0110062|OMIM:614832|ICD10:K00.5 owl:Class HGNC:26300 biolink:NamedThing ODAPH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001382 biolink:NamedThing hepatorenal syndrome Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. tmpte7i6ely_mondo_relaxed.owl hepato-renal syndrome GARD:0006610|ICD9:572.4|MESH:D006530|NCIT:C113400|UMLS:C0019212|DOID:11823|ICD10:K76.7|SCTID:51292008 https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome owl:Class NCBITaxon:89940 biolink:NamedThing Cladophialophora bantiana tmpte7i6ely_mondo_relaxed.owl Cladosporium bantianum|Xylohypha bantiana|Cladosporium trichoides GC_ID:1 NCBITaxon:5590 ncbi_taxonomy owl:Class UBERON:0004684 biolink:NamedThing raphe nuclei tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006469 biolink:NamedThing tibial adamantinoma An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). tmpte7i6ely_mondo_relaxed.owl adamantinoma of tibia|tibia long bone adamantinoma|tibial adamantinoma morphology|tibial adamantinoma|tibia adamantinoma DOID:6322|EFO:1000596|NCIT:C8461|UMLS:C1273017|SCTID:281702006 owl:Class UBERON:0004989 biolink:NamedThing mucosa of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010961 biolink:NamedThing obesity due to prohormone convertase I deficiency Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. tmpte7i6ely_mondo_relaxed.owl PCI deficiency|obesity and endocrinopathy due to impaired processing of prohormones|proprotein convertase 1/3 deficiency DOID:0111698|ICD10:E66.8|MESH:C563423|SCTID:722053001|UMLS:C1833053|OMIM:600955|Orphanet:71528|UMLS:C4302878 owl:Class UBERON:0004644 biolink:NamedThing fourth ventricle ependyma tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002281 biolink:NamedThing macrophage activation involved in immune response A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpte7i6ely_mondo_relaxed.owl macrophage polarization involved in immune response|macrophage activation during immune response owl:Class HGNC:2860 biolink:NamedThing DHCR7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013675 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 2 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene. tmpte7i6ely_mondo_relaxed.owl BOLA3 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3|MMDS2|multiple mitochondrial dysfunctions syndrome 2|multiple mitochondrial dysfunctions syndrome type 2|BOLA3 deficiency OMIM:614299|ICD10:E88.8|DOID:0080134|Orphanet:401874|UMLS:C3280378|Orphanet:289573 owl:Class MONDO:0016765 biolink:NamedThing 19p13.12 microdeletion syndrome 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Del(19)(p13.12)|monosomy 19p13.12|Chromosome19p13.12 microdeletion Orphanet:254346|ICD10:Q93.5|UMLS:C4304579|SCTID:719597005|GARD:0010991|UMLS:CN202023 https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome owl:Class OBO:CHR_9606-chr19p13.12 biolink:NamedThing 19p13.12 (Human) tmpte7i6ely_mondo_relaxed.owl 16100000 13800000 hg38 owl:Class MONDO:0014170 biolink:NamedThing complex cortical dysplasia with other brain malformations 3 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. tmpte7i6ely_mondo_relaxed.owl complex cortical dysplasia with other brain malformations type 3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|KIF2A complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 3|CDCBM3|cortical dysplasia, Complex, with Other brain malformations type 3 DOID:0090134|UMLS:C3809414|OMIM:615411 owl:Class HGNC:6318 biolink:NamedThing KIF2A tmpte7i6ely_mondo_relaxed.owl owl:Class N5c3c15b9408144cca24d6868d829cb78 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0005228 biolink:NamedThing upper arm epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0000078 biolink:NamedThing mixed ectoderm/mesoderm/endoderm-derived structure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011975 biolink:NamedThing epiphysis of middle phalanx of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024528 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. tmpte7i6ely_mondo_relaxed.owl PEOA1|autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG|POLG autosomal dominant progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal dominant 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 DOID:0111521|Orphanet:254892|OMIM:157640|UMLS:C1834846 owl:Class UBERON:0014621 biolink:NamedThing cervical spinal cord ventral horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013485 biolink:NamedThing spinocerebellar ataxia type 35 Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. tmpte7i6ely_mondo_relaxed.owl SCA35|spinocerebellar ataxia 35|spinocerebellar ataxia type 35 DOID:0050982|OMIM:613908|SCTID:719300001|GARD:0012366|Orphanet:276193|UMLS:C4304822|ICD10:G11.8|UMLS:CN202597 owl:Class HGNC:16255 biolink:NamedThing TGM6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013268 biolink:NamedThing frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. tmpte7i6ely_mondo_relaxed.owl frontonasal dysplasia type 2|craniofrontonasal dysplasia with alopecia and hypogonadism|ALX4-related FNDAG|FND2|frontonasal dysplasia with alopecia and genital abnomality|frontonasal dysplasia 2 ICD10:Q87.0|Orphanet:228390|GARD:0012641|OMIM:613451|SCTID:725029001|UMLS:C3150703 https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly owl:Class UBERON:0007724 biolink:NamedThing interphalangeal joint of pedal digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004478 biolink:NamedThing musculature of larynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012720 biolink:NamedThing Krabbe disease, atypical, due to saposin A deficiency tmpte7i6ely_mondo_relaxed.owl Krabbe disease, atypical due to saposin A deficiency|saposin A deficiency|Krabbe disease, atypical, due to saposin A deficiency MESH:C567097|Orphanet:487|UMLS:C2673266|GARD:0010289|OMIM:611722 https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency owl:Class UBERON:0006271 biolink:NamedThing orbital fissure tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2375 biolink:NamedThing MED17 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014752 biolink:NamedThing nephrotic syndrome, type 11 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. tmpte7i6ely_mondo_relaxed.owl familial nephrotic syndrome caused by mutation in NUP107|familial nephrotic syndrome caused by mutation in Nup107|NUP107 familial nephrotic syndrome|nephrotic syndrome, type 11; NPHS11|Nup107 familial nephrotic syndrome|NPHS11|nephrotic syndrome, type 11 DOID:0080385|UMLS:C4225228|OMIM:616730 owl:Class MONDO:0009816 biolink:NamedThing autosomal recessive osteopetrosis 2 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene. tmpte7i6ely_mondo_relaxed.owl TNFSF11 autosomal recessive malignant osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|OPTB2|osteopetrosis osteoclast-poor|osteopetrosis, mild autosomal recessive form|TNFSF11 autosomal recessive osteopetrosis|osteopetrosis, autosomal recessive 2|osteopetrosis autosomal recessive 2|osteopetrosis, autosomal recessive type 2|osteoclast-poor osteopetrosis|autosomal recessive osteopetrosis type 2|autosomal recessive osteopetrosis caused by mutation in TNFSF11|mild autosomal recessive form osteopetrosis|osteopetrosis, osteoclast-poor Orphanet:667|DOID:0110943|OMIM:259710|GARD:0004157|MESH:C536059 https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2 owl:Class HGNC:17198 biolink:NamedThing CHSY1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28369 biolink:NamedThing THOC6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009953 biolink:NamedThing post-embryonic organism tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002034 biolink:NamedThing long term hematopoietic stem cell A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative. tmpte7i6ely_mondo_relaxed.owl LT stem cell|LT-HSC Markers are associated with mouse cells. tmeehan 2010-01-08T09:19:28Z cell owl:Class MONDO:0014484 biolink:NamedThing microcephaly 12, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. tmpte7i6ely_mondo_relaxed.owl microcephaly 12, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CDK6|CDK6 autosomal recessive primary microcephaly|MCPH12 UMLS:C4015156|DOID:0070284|OMIM:616080 owl:Class HGNC:1777 biolink:NamedThing CDK6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018991 biolink:NamedThing hepatoportal sclerosis Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. tmpte7i6ely_mondo_relaxed.owl obliterative portal venopathy UMLS:C4273756|ICD10:K74.1|SCTID:718096004|Orphanet:64743 owl:Class UBERON:0005051 biolink:NamedThing mediastinum testis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2439 biolink:NamedThing CSF3R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011274 biolink:NamedThing Muenke syndrome Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. tmpte7i6ely_mondo_relaxed.owl Muenke nonsyndromic coronal craniosynostosis|Muenke syndrome|MNKES|FGFR3-related craniosynostosis|syndrome of coronal craniosynostosis SCTID:440350001|Orphanet:53271|UMLS:C1864436|OMIM:602849|ICD10:Q87.0|DOID:0060703|NCIT:C84904|GARD:0007097|MESH:C537369 https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome owl:Class MONDO:0013341 biolink:NamedThing methylmalonic acidemia due to transcobalamin receptor defect Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. tmpte7i6ely_mondo_relaxed.owl methylmalonic acidemia caused by mutation in CD320|CD320 methylmalonic acidemia|methylmalonic acidemia, TCb1R type|methylmalonic aciduria, transient, due to transcobalamin receptor defect|methylmalonic acidemia, Tcblr type|methylmalonic acidemia, TCbIR type|methylmalonic aciduria due to transcobalamin receptor defect Orphanet:280183|ICD10:E71.1|DOID:0060741|UMLS:C3150900|OMIM:613646 owl:Class HGNC:16692 biolink:NamedThing CD320 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009022 biolink:NamedThing right uterine horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100079 biolink:NamedThing developmental and epileptic encephalopathy, 6 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene. tmpte7i6ely_mondo_relaxed.owl developmental and epileptic encephalopathy, 6|DEE6|epileptic encephalopathy, early infantile, 6|EIEE6 OMIM:607208 EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014462 biolink:NamedThing focal segmental glomerulosclerosis 8 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. tmpte7i6ely_mondo_relaxed.owl ANLN focal segmental glomerulosclerosis|FSGS8|glomerulosclerosis, focal segmental, 8|focal segmental glomerulosclerosis type 8|focal segmental glomerulosclerosis caused by mutation in ANLN|focal segmental glomerulosclerosis 8 UMLS:C4014993|DOID:0111133|ICD10:N04.1|OMIM:616032 owl:Class GO:2000383 biolink:NamedThing regulation of ectoderm development Any process that modulates the frequency, rate or extent of ectoderm development. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001005 biolink:NamedThing respiratory airway tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007903 biolink:NamedThing Li-Fraumeni syndrome 1 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. tmpte7i6ely_mondo_relaxed.owl Li-Fraumeni syndrome|Li-Fraumeni syndrome type 1|Li-Fraumeni syndrome 3|Li-Fraumeni syndrome 1|Li-Fraumeni-like syndrome|Sbla syndrome|LFS1|Li-Fraumeni syndrome caused by mutation in TP53|LFS3|LFS|TP53 Li-Fraumeni syndrome|sarcoma family syndrome of 51 and Fraumeni Orphanet:524|UMLS:C1836481|DOID:0111503|OMIM:609266|UMLS:C1835398|MESH:C563754|OMIM:151623 owl:Class PATO:0001657 biolink:NamedThing increased osmolarity A osmolarity which is relatively high. tmpte7i6ely_mondo_relaxed.owl high osmolarity owl:Class MONDO:0014761 biolink:NamedThing hereditary pediatric Behçet-like disease tmpte7i6ely_mondo_relaxed.owl AISBL|Behçet-like disease due to HA20|hereditary pediatric Behçet-like disease|autoinflammatory syndrome, familial, Behcet-like|Behçet-like disease due to haploinsufficiency of A20 UMLS:C4225218|Orphanet:476102|OMIM:616744 owl:Class HGNC:2197 biolink:NamedThing COL1A1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005635 biolink:NamedThing nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002368 biolink:NamedThing respiratory epithelial cell An endo-epithelial cell of the respiratory tract. tmpte7i6ely_mondo_relaxed.owl airway epithelial cell BTO:0004533 tmeehan 2010-09-23T04:38:49Z cell owl:Class HGNC:4118 biolink:NamedThing GALK1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012242 biolink:NamedThing internal urethral orifice tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014190 biolink:NamedThing combined oxidative phosphorylation defect type 17 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene. tmpte7i6ely_mondo_relaxed.owl COXPD17|combined oxidative phosphorylation deficiency 17|combined oxidative phosphorylation deficiency caused by mutation in ELAC2|ELAC2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 17 Orphanet:369913|ICD10:E88.8|DOID:0111496|UMLS:C3809526|OMIM:615440 owl:Class MONDO:0013323 biolink:NamedThing cranioectodermal dysplasia 2 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. tmpte7i6ely_mondo_relaxed.owl cranioectodermal dysplasia caused by mutation in WDR35|Cranioectodermal dysplasia type 2|WDR35 cranioectodermal dysplasia|CRANIOECTODERMAL dysplasia 2|CED2|cranioectodermal dysplasia 2 UMLS:C3150874|Orphanet:1515|OMIM:613610 owl:Class UBERON:0007590 biolink:NamedThing cuboidal oviduct epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22978 biolink:NamedThing cadmium molecular entity tmpte7i6ely_mondo_relaxed.owl cadmium compounds|cadmium molecular entities owl:Class CHEBI:22977 biolink:NamedThing cadmium atom tmpte7i6ely_mondo_relaxed.owl cadmium|Kadmium|Cd|cadmio|48Cd owl:Class HGNC:329 biolink:NamedThing AGRN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011601 biolink:NamedThing neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. tmpte7i6ely_mondo_relaxed.owl citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia|citrullinemia, type II, neonatal-onset|NICCD|cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal-onset citrullinemia type 2|neonatal intrahepatic cholestasis caused by citrin deficiency|neonatal-onset citrullinemia type II|neonatal intrahepatic cholestasis due to citrin deficiency UMLS:C1853942|MESH:C536398|SCTID:717155003|UMLS:C4274030|ICD10:E72.2|Orphanet:247598|GARD:0010214|OMIM:605814 owl:Class BFO:0000019 biolink:NamedThing quality tmpte7i6ely_mondo_relaxed.owl Quality quality a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001]) the color of a tomato|the shape of your nostril|the length of the circumference of your waist|the mass of this piece of gold.|the ambient temperature of this portion of air|the shape of your nose (forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001] |(forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001] If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001]) owl:Class UBERON:0005386 biolink:NamedThing olfactory segment of nasal mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013129 biolink:NamedThing cone dystrophy 4 Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene. tmpte7i6ely_mondo_relaxed.owl cone dystrophy caused by mutation in PDE6C|PDE6C cone dystrophy|cone dystrophy 4|achromatopsia 5|cone dystrophy type 4|COD4 Orphanet:1871|NCIT:C164226|Orphanet:49382|OMIM:613093 owl:Class HGNC:8787 biolink:NamedThing PDE6C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001046 biolink:NamedThing imperforate anus A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. tmpte7i6ely_mondo_relaxed.owl anorectal malformations|congenital atresia of anus|anal atresia|anal stenosis|congenital or infantile occlusion of anus|imperforate anus|anus, imperforate NCIT:C84784|ICD10:Q42.3|Orphanet:557|MESH:D001006|GARD:0006769|OMIM:207500|SCTID:204731006|OMIM:301800|DOID:10488 owl:Class MONDO:0037872 biolink:NamedThing bordetellosis Any disease caused by infection with organisms of the genus Bordetella. tmpte7i6ely_mondo_relaxed.owl Bordetella infection|Bordetella Infection|INFECT BORDETELLA|Bordetella Infections|Infections, Bordetella|Bordetella caused disease or disorder|Infection, Bordetella|bordetellosis|Bordetella infectious disease|Bordetellosis|Bordetella disease or disorder EFO:1001275|UMLS:C0006015|SCTID:26484003|MESH:D001885|ICD9:041.85 B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. MONDO:0020758 owl:Class HGNC:9455 biolink:NamedThing PROP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014953 biolink:NamedThing gnb5-related intellectual disability-cardiac arrhythmia syndrome tmpte7i6ely_mondo_relaxed.owl intellectual developmental disorder with cardiac arrhythmia; IDDCA|IDDCA|intellectual developmental disorder with cardiac arrhythmia Orphanet:542306|OMIM:617173|UMLS:C4310682 owl:Class MONDO:0032925 biolink:NamedThing respiratory papillomatosis, juvenile recurrent, congenital tmpte7i6ely_mondo_relaxed.owl RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL|JRRP OMIM:618803 owl:Class MONDO:0012483 biolink:NamedThing cone-rod dystrophy 11 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 11|cone-rod dystrophy caused by mutation in RAX2|RAX2 cone-rod dystrophy|cone-rod dystrophy 11|CORD11 DOID:0111018|Orphanet:1872|MESH:C563671|UMLS:C1835865|OMIM:610381 owl:Class UBERON:0005022 biolink:NamedThing mucosa of nasopharynx tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:34609 biolink:NamedThing Amblyomma maculatum tmpte7i6ely_mondo_relaxed.owl Gulf Coast tick GC_ID:1 ncbi_taxonomy owl:Class HGNC:8149 biolink:NamedThing OPLAH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005585 biolink:NamedThing collagen type II trimer A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022745 biolink:NamedThing mixed dust pneumoconiosis tmpte7i6ely_mondo_relaxed.owl mixed dust pneumoconiosis|Mixed dust pneumoconiosis|labrador lung ICD9:504|UMLS:C0264436|SCTID:32139003|GARD:0008374 owl:Class UBERON:0005422 biolink:NamedThing pelvic appendage apical ectodermal ridge tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001233 biolink:NamedThing right adrenal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013378 biolink:NamedThing orofacial cleft 10 Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene. tmpte7i6ely_mondo_relaxed.owl orofacial cleft type 10|cleft lip with or without cleft palate, nonsyndromic, 10|orofacial cleft 10|OFC10|orofacial cleft caused by mutation in SUMO1|SUMO1 orofacial cleft OMIM:613705|MESH:C566605|DOID:0080403|Orphanet:1991 owl:Class HGNC:12502 biolink:NamedThing SUMO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002706 biolink:NamedThing cervix endometriosis Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding. tmpte7i6ely_mondo_relaxed.owl endometriosis of cervix|endometriosis (disease) of uterine cervix|cervical endometriosis|uterine cervix endometriosis (disease) SCTID:61640006|UMLS:C0269107|NCIT:C27623|DOID:361 owl:Class HGNC:1956 biolink:NamedThing CHRNA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009846 biolink:NamedThing pentosuria Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. tmpte7i6ely_mondo_relaxed.owl essential pentosuria|xylitol dehydrogenase deficiency|PNTSU|pentosuria|L-xylulose reductase deficiency|L-Xylulosuria MedDRA:10064170|ICD9:271.8|ICD10:E74.8|Orphanet:2843|DOID:0111258|OMIM:260800|MESH:C536652|GARD:0000418|SCTID:190764000|UMLS:C0268162 https://rarediseases.info.nih.gov/diseases/418/pentosuria owl:Class HGNC:18985 biolink:NamedThing DCXR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012301 biolink:NamedThing mitochondrial DNA depletion syndrome, myopathic form Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. tmpte7i6ely_mondo_relaxed.owl mtDNA depletion syndrome, myopathic form|MTDPS2|mitochondrial DNA depletion syndrome type 2|mitochondrial DNA depletion myopathy, Tk2-related|mitochondrial DNA depletion syndrome 2|mitochondrial DNA depletion syndrome 2 (myopathic type) ICD10:G71.3|SCTID:703527003|DOID:0080120|UMLS:C3501891|OMIM:609560|ICD9:359.89|MESH:C563698|Orphanet:254875 owl:Class MONDO:0013289 biolink:NamedThing agammaglobulinemia 4, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene. tmpte7i6ely_mondo_relaxed.owl autosomal agammaglobulinemia caused by mutation in BLNK|BLNK autosomal agammaglobulinemia|AGM4|agammaglobulinemia, autosomal recessive, due to Blnk defect|agammaglobulinemia 4, autosomal recessive OMIM:613502|UMLS:C3150752|Orphanet:33110|Orphanet:229717 owl:Class HGNC:14211 biolink:NamedThing BLNK tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000436 biolink:NamedThing epithelial cell of lacrimal sac An epithelial cell that is part of the lacrimal sac. tmpte7i6ely_mondo_relaxed.owl FMA:70560 cell owl:Class MONDO:0008099 biolink:NamedThing congenital stationary night blindness autosomal dominant 2 Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. tmpte7i6ely_mondo_relaxed.owl PDE6B congenital stationary night blindness|CSNBAD2|night blindness, congenital stationary, Rambusch type|congenital stationary night blindness caused by mutation in PDE6B|night blindness, congenital stationary, autosomal dominant type 2|Rambusch type congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 2|congenital stationary night blindness autosomal dominant type 2 Orphanet:215|DOID:0110863|MESH:C566869|UMLS:C1876182|OMIM:163500 owl:Class MONDO:0002207 biolink:NamedThing vulval Paget disease An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei. tmpte7i6ely_mondo_relaxed.owl Paget's disease of the vulva|Paget's disease of vulva|Paget disease of the vulva|vulval Paget disease|mammalian vulva Paget disease|vulva Paget's disease|vulval Paget's disease|vulvar Paget's disease DOID:2097|ICD9:233.39|UMLS:C1275217|NCIT:C4027|SCTID:254898001 owl:Class HGNC:2501 biolink:NamedThing CTH tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0025082 biolink:NamedThing reproductive shoot system A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094). tmpte7i6ely_mondo_relaxed.owl sistema de brote reproductivo (Spanish, exact)|生殖シュート 系、苗条系 (Japanese, exact) rwalls 2010-09-17T09:49:10Z plant_anatomy owl:Class HsapDv:0000119 biolink:NamedThing 25-year-old human stage Adult stage that refers to an adult who is over 25 and under 26. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004068 biolink:NamedThing medial nasal prominence tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100050 biolink:NamedThing Usher syndrome, type 1D/F Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes. tmpte7i6ely_mondo_relaxed.owl USH1D/F, CDH23/PCDH15, digenic|Usher syndrome, type 1D/F, CDH23/PCDH15, digenic OMIM:601067 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013112 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 3 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene. tmpte7i6ely_mondo_relaxed.owl bronchiectasis caused by mutation in SCNN1G|bronchiectasis with or without elevated sweat chloride type 3|BESC3|SCNN1G bronchiectasis|bronchiectasis with or without elevated sweat chloride 3|cystic fibrosis-like syndrome DOID:0080528|MESH:C567772|UMLS:C2751324|OMIM:613071|Orphanet:60033 owl:Class HGNC:10602 biolink:NamedThing SCNN1G tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7582 biolink:NamedThing MYL1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:95 biolink:NamedThing SLC33A1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002775 biolink:NamedThing antimicrobial peptide production The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0010022 biolink:NamedThing cardiac neuron tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006455 biolink:NamedThing thymic undifferentiated carcinoma A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features. tmpte7i6ely_mondo_relaxed.owl thymic undifferentiated carcinoma UMLS:C1336865|NCIT:C35718|EFO:1000580 owl:Class BFO:0000020 biolink:NamedThing specifically dependent continuant b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])|b is a relational specifically dependent continuant = Def. b is a specifically dependent continuant and there are n > 1 independent continuants c1, … cn which are not spatial regions are such that for all 1 i < j n, ci and cj share no common parts, are such that for each 1 i n, b s-depends_on ci at every time t during the course of b’s existence (axiom label in BFO2 Reference: [131-004])|A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. tmpte7i6ely_mondo_relaxed.owl SpecificallyDependentContinuant sdc Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc. specifically dependent continuant the disposition of this fish to decay|of relational dependent continuants (multiple bearers): John’s love for Mary, the ownership relation between John and this statue, the relation of authority between John and his subordinates.|of one-sided specifically dependent continuants: the mass of this tomato|the function of this heart: to pump blood|the mutual dependence of proton donors and acceptors in chemical reactions [79|the smell of this portion of mozzarella|the role of being a doctor|the shape of this hole.|the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction|the pink color of a medium rare piece of grilled filet mignon at its center|Reciprocal specifically dependent continuants: the function of this key to open this lock and the mutually dependent disposition of this lock: to be opened by this key (iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003] |(iff (RelationalSpecificallyDependentContinuant a) (and (SpecificallyDependentContinuant a) (forall (t) (exists (b c) (and (not (SpatialRegion b)) (not (SpatialRegion c)) (not (= b c)) (not (exists (d) (and (continuantPartOfAt d b t) (continuantPartOfAt d c t)))) (specificallyDependsOnAt a b t) (specificallyDependsOnAt a c t)))))) // axiom label in BFO2 CLIF: [131-004] owl:Class HGNC:3354 biolink:NamedThing ENO3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011449 biolink:NamedThing Salla disease Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. tmpte7i6ely_mondo_relaxed.owl sialuria, Finnish type|Salla disease|SD|sialic acid storage disease GARD:0004754|Orphanet:834|SCTID:87074006|NCIT:C85067|OMIM:604369|UMLS:C1096903|MedDRA:10067531|Orphanet:309334|ICD10:E77.8 https://rarediseases.info.nih.gov/diseases/4754/salla-disease owl:Class GO:0015136 biolink:NamedThing sialic acid transmembrane transporter activity Enables the transfer of sialic acid from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001226 biolink:NamedThing terrestrial natural environment A natural environment which is located on a land mass. tmpte7i6ely_mondo_relaxed.owl owl:Class BFO:0000017 biolink:NamedThing realizable entity A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. tmpte7i6ely_mondo_relaxed.owl RealizableEntity realizable To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002]) the function of your reproductive organs|the role of being a doctor|the disposition of this piece of metal to conduct electricity.|the role of this boundary to delineate where Utah and Colorado meet|the disposition of your blood to coagulate (forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002] |(forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002] All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002]) owl:Class GO:0048729 biolink:NamedThing tissue morphogenesis The process in which the anatomical structures of a tissue are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012736 biolink:NamedThing long QT syndrome 9 Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene. tmpte7i6ely_mondo_relaxed.owl long QT syndrome 9|LQT9|long QT syndrome 2/9, digenic|long QT syndrome type 9|long QT syndrome 9, acquired, susceptibility to|CAV3 long QT syndrome|long QT syndrome caused by mutation in CAV3 Orphanet:101016|OMIM:611818|DOID:0110650|ICD10:I45.8|Orphanet:768|GARD:0010435|MESH:C567515 https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 owl:Class HGNC:634 biolink:NamedThing AQP2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6283 biolink:NamedThing KCNK9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024415 biolink:NamedThing hemorrhagic duodenitis tmpte7i6ely_mondo_relaxed.owl erosive duodenitis|multiple duodenal erosions|hemorrhagic duodenitis SCTID:95531001|ICD9:535.61|UMLS:C0341245 owl:Class GO:0017168 biolink:NamedThing 5-oxoprolinase (ATP-hydrolyzing) activity Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. tmpte7i6ely_mondo_relaxed.owl 5-oxoprolinase (ATP-hydrolysing)|pyroglutamic hydrolase activity|pyroglutamase (ATP-hydrolyzing) activity|pyroglutamase activity|5-oxoprolinase activity|pyroglutamase (ATP-hydrolysing)|oxoprolinase activity|L-pyroglutamate hydrolase activity|5-OPase activity|pyroglutamate hydrolase activity|5-oxo-L-prolinase activity|5-oxo-L-proline amidohydrolase (ATP-hydrolysing) owl:Class MONDO:0044750 biolink:NamedThing lassa virus infectious disease tmpte7i6ely_mondo_relaxed.owl infection caused by Lassa virus|Lassa virus infection SCTID:721779001|UMLS:C1617072 owl:Class NCBITaxon:11620 biolink:NamedThing Lassa mammarenavirus tmpte7i6ely_mondo_relaxed.owl Lassa virus GC_ID:1 ncbi_taxonomy owl:Class GO:0004875 biolink:NamedThing complement receptor activity Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpte7i6ely_mondo_relaxed.owl anaphylatoxin receptor activity owl:Class CL:1000450 biolink:NamedThing epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular capsule. tmpte7i6ely_mondo_relaxed.owl epithelial cell of Bowman's capsule|Bowmans capsule epithelial cell KUPO:0001034|FMA:70966 cell owl:Class HGNC:11948 biolink:NamedThing TNNT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3528 biolink:NamedThing F10 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17264 biolink:NamedThing POLR1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023199 biolink:NamedThing frontonasal dysplasia phocomelic upper limbs tmpte7i6ely_mondo_relaxed.owl GARD:0002395 https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs owl:Class MONDO:0005143 biolink:NamedThing Pseudomonas aeruginosa PA14 infection A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. tmpte7i6ely_mondo_relaxed.owl EFO:0001078 owl:Class NCBITaxon:652611 biolink:NamedThing Pseudomonas aeruginosa PA14 tmpte7i6ely_mondo_relaxed.owl Pseudomonas aeruginosa str. PA14|Pseudomonas aeruginosa strain PA14 GC_ID:11 ncbi_taxonomy owl:Class MONDO:0020854 biolink:NamedThing Liddle syndrome 2 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. tmpte7i6ely_mondo_relaxed.owl LIDLS2|SCNN1G Liddle syndrome|Liddle syndrome 2|Liddle syndrome caused by mutation in SCNN1G OMIM:618114 owl:Class MONDO:0044978 biolink:NamedThing disease of cell nucleus tmpte7i6ely_mondo_relaxed.owl 2022-04-01 Reason: grouping class. Term to consider: none owl:Class HsapDv:0000127 biolink:NamedThing 33-year-old human stage Adult stage that refers to an adult who is over 33 and under 34. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003586 biolink:NamedThing trunk connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q23.1 biolink:NamedThing 2q23.1 (Human) tmpte7i6ely_mondo_relaxed.owl 149000000 147900000 hg38 owl:Class UBERON:0000929 biolink:NamedThing pharyngeal branch of vagus nerve tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0019955 biolink:NamedThing cytokine binding Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. tmpte7i6ely_mondo_relaxed.owl IL binding|interleukin binding owl:Class MONDO:0006589 biolink:NamedThing occupational dermatitis Contact dermatitis associated with allergens or irritants found in the workplace. tmpte7i6ely_mondo_relaxed.owl occupational allergic contact dermatitis|occupational dermatitis|occupational eczema (disorder) [ambiguous]|occupational eczema UMLS:C0028796|EFO:1000744|SCTID:402587003|DOID:4404|NCIT:C34859|ICD9:692.9|MESH:D009783 owl:Class ECTO:0001591 biolink:NamedThing exposure to occupation An exposure event involving Occupation tmpte7i6ely_mondo_relaxed.owl Occupation exposure owl:Class HGNC:16257 biolink:NamedThing TUBB1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006566 biolink:NamedThing left ventricle myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002824 biolink:NamedThing vestibular ganglion tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:91 biolink:NamedThing ACADSB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002706 biolink:NamedThing regulation of lymphocyte mediated immunity Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014422 biolink:NamedThing vesicoureteral reflux 8 Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene. tmpte7i6ely_mondo_relaxed.owl TNXB vesicoureteral reflux (disease)|vesicoureteral reflux type 8|vesicoureteral reflux (disease) caused by mutation in TNXB|vesicoureteral reflux 8|VUR8 Orphanet:289365|OMIM:615963|UMLS:C4014831 owl:Class HGNC:11976 biolink:NamedThing TNXB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:2000380 biolink:NamedThing regulation of mesoderm development Any process that modulates the frequency, rate or extent of mesoderm development. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4416 biolink:NamedThing GNPAT tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10817 biolink:NamedThing SGPL1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003438 biolink:NamedThing iris nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024561 biolink:NamedThing vitelliform macular dystrophy 3 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpte7i6ely_mondo_relaxed.owl PRPH2 vitelliform macular dystrophy|vitelliform macular dystrophy caused by mutation in PRPH2|foveomacular dystrophy, adult-onset, with or without choroidal neovascularization|foveomacular dystrophy, adult-onset|VMD3|macular dystrophy, vitelliform, 3|vitelliform macular dystrophy, adult-onset Orphanet:99000|UMLS:C1842914|OMIM:608161 owl:Class HGNC:1573 biolink:NamedThing KRIT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001625 biolink:NamedThing corpus luteum cyst A ovarian cyst (disease) that involves the corpus luteum. tmpte7i6ely_mondo_relaxed.owl corpus luteum ovarian cyst (disease)|ovarian cyst (disease) of corpus luteum DOID:13050|ICD9:620.1|ICD10:N83.1|SCTID:386762009 owl:Class UBERON:0005319 biolink:NamedThing mesonephric collecting duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010499 biolink:NamedThing Ritscher-Schinzel syndrome 2 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene. tmpte7i6ely_mondo_relaxed.owl Ritscher-Schinzel syndrome caused by mutation in CCDC22|Ritscher-Schinzel syndrome type 2|RTSC2|CCDC22 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome 2 OMIM:300963|UMLS:C4225419|DOID:0060572|Orphanet:7 owl:Class GO:1905278 biolink:NamedThing positive regulation of epithelial tube formation Any process that activates or increases the frequency, rate or extent of epithelial tube formation. tmpte7i6ely_mondo_relaxed.owl upregulation of epithelial tube formation|up-regulation of epithelial tube formation|up regulation of epithelial tube formation|activation of epithelial tube formation owl:Class MONDO:0012730 biolink:NamedThing aortic aneurysm, familial thoracic 6 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial thoracic type 6|familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|ACTA2 familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|aortic aneurysm, familial thoracic 6|AAT6 UMLS:C2673186|Orphanet:91387|MESH:C567085|OMIM:611788 owl:Class MONDO:0010828 biolink:NamedThing retinitis pigmentosa 11 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene. tmpte7i6ely_mondo_relaxed.owl PRPF31 retinitis pigmentosa|retinitis pigmentosa type 11|RP 11|retinitis pigmentosa caused by mutation in PRPF31|RP11|retinitis pigmentosa 11 GARD:0010383|UMLS:C1838601|DOID:0110408|OMIM:600138|ICD10:H35.5|MESH:C563991 https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11 owl:Class HGNC:25774 biolink:NamedThing TCTN2 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001780 biolink:NamedThing desert ecosystem An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019973 biolink:NamedThing persistent placoid maculopathy Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. tmpte7i6ely_mondo_relaxed.owl Orphanet:97341|UMLS:C4304823|SCTID:719297006 owl:Class UBERON:0039222 biolink:NamedThing cystic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009084 biolink:NamedThing conductive deafness-ptosis-skeletal anomalies syndrome Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. tmpte7i6ely_mondo_relaxed.owl Jackson-Barr syndrome|deafness conductive ptosis skeletal anomalies|deafness, conductive, with ptosis and skeletal anomalies|Jackson Barr syndrome MESH:C535993|SCTID:763213001|UMLS:C1857340|OMIM:221320|GARD:0000305|Orphanet:3236 owl:Class HGNC:20449 biolink:NamedThing PADI6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016834 biolink:NamedThing 16p11.2p12.2 microduplication syndrome 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. tmpte7i6ely_mondo_relaxed.owl dup(16)(p11.2p12.2)|trisomy 16p11.2p12.2 ICD10:Q92.3|UMLS:CN202168|SCTID:733518000|UMLS:C4518821|Orphanet:261204 owl:Class OBO:CHR_9606-chr16p11.2-p12.2 biolink:NamedThing 16p11.2-p12.2 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class HP:0002917 biolink:NamedThing Hypomagnesemia An abnormally decreased magnesium concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Low blood Mg levels|Low blood magnesium levels SNOMEDCT_US:190855004|UMLS:C0151723 HP:0003284 human_phenotype owl:Class MONDO:0013933 biolink:NamedThing peroxisome biogenesis disorder 5B tmpte7i6ely_mondo_relaxed.owl PBD5B|peroxisome biogenesis disorder 5B|peroxisome biogenesis disorder type 5B NCIT:C155757|Orphanet:772|Orphanet:44|UMLS:C3542026|OMIM:614867 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013314 biolink:NamedThing retinitis pigmentosa 56 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in IMPG2|RP56|maculopathy, Impg2-related|retinitis pigmentosa type 56|retinitis pigmentosa 56|IMPG2 retinitis pigmentosa UMLS:C3150819|ICD10:H35.5|Orphanet:791|DOID:0110371|OMIM:613581 owl:Class MONDO:0012186 biolink:NamedThing Fanconi anemia complementation group I Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia complementation group I|Fanconi anemia complementation group type I|FANCI|Fanconi anemia, complementation group I|Fanconi Anemia, complementation group type 1|Fanconi Anemia, complementation Group 1 MESH:C563802|UMLS:C1836861|NCIT:C129026|DOID:0111091|OMIM:609053 owl:Class HGNC:25568 biolink:NamedThing FANCI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013007 biolink:NamedThing combined immunodeficiency due to ORAI1 deficiency A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. tmpte7i6ely_mondo_relaxed.owl CID due to ORAI1 deficiency|IMD9|immunodeficiency 9|immunodeficiency type 9|immune dysfunction with T-cell inactivation due to calcium entry defect 1 ICD10:D81.8|GARD:0010524|UMLS:C2748568|Orphanet:169090|Orphanet:317428|MESH:C557826|OMIM:612782 owl:Class HGNC:30100 biolink:NamedThing PSENEN tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0046005 biolink:NamedThing positive regulation of circadian sleep/wake cycle, REM sleep Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. tmpte7i6ely_mondo_relaxed.owl up-regulation of circadian sleep/wake cycle, REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep owl:Class ENVO:01001429 biolink:NamedThing land conversion process An anthropisation process during which terrestrial environments - natural or anthropised - or parts thereof are altered to facilitate human activities such as agriculture, settlement, or commerce. tmpte7i6ely_mondo_relaxed.owl land development|land conversion owl:Class MONDO:0013530 biolink:NamedThing atrial fibrillation, familial, 10 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene. tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, type 10|atrial fibrillation, familial, 10|ATFB10|SCN5A familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN5A UMLS:C3151464|Orphanet:334|OMIM:614022 owl:Class NCBITaxon:1335626 biolink:NamedThing Middle East respiratory syndrome-related coronavirus tmpte7i6ely_mondo_relaxed.owl MERS|MERS-CoV|Middle East respiratory syndrome coronavirus|MERS virus|MERS coronavirus|Middle East Respiratory Syndrome Coronavirus (MERS-CoV) GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000411 biolink:NamedThing visual cortex tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006553 biolink:NamedThing renal duct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0055123 biolink:NamedThing digestive system development The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7132 biolink:NamedThing KMT2A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7216 biolink:NamedThing MPI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012450 biolink:NamedThing spinocerebellar ataxia type 28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. tmpte7i6ely_mondo_relaxed.owl SCA28|spinocerebellar ataxia 28|spinocerebellar ataxia type 28 DOID:0050977|UMLS:C4274988|ICD10:G11.1|UMLS:C1853249|MESH:C537205|SCTID:715824008|GARD:0009951|Orphanet:101109|OMIM:610246 owl:Class MONDO:0005959 biolink:NamedThing sick building syndrome A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) tmpte7i6ely_mondo_relaxed.owl MESH:D018877|SCTID:19076009|EFO:0007484|UMLS:C0037050|DOID:2710 owl:Class UBERON:0008196 biolink:NamedThing muscle of pectoral girdle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011491 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl EIG7|epilepsy, idiopathic generalized, susceptibility to, 7|myoclonic epilepsy, juvenile, 2 DOID:0111321|Orphanet:307|OMIM:604827 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0014331 biolink:NamedThing Moyamoya disease with early-onset achalasia Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. tmpte7i6ely_mondo_relaxed.owl MYMY6|Moyamoya disease 6 with achalasia UMLS:C3810403|OMIM:615750|ICD10:I67.5|SCTID:718551002|Orphanet:401945 owl:Class HGNC:4685 biolink:NamedThing GUCY1A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003503 biolink:NamedThing fallopian tube squamous cell carcinoma A rare squamous cell carcinoma that arises from the fallopian tube. tmpte7i6ely_mondo_relaxed.owl fallopian tube squamous cell carcinoma|fallopian tube squamous cell cancer|squamous cell carcinoma of fallopian tube|squamous cell carcinoma of the fallopian tube DOID:5540|NCIT:C6282|UMLS:C1333596 owl:Class MONDO:0010792 biolink:NamedThing lethal infantile mitochondrial myopathy Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. tmpte7i6ely_mondo_relaxed.owl mitochondrial myopathy, lethal, infantile|LIMD|lethal infantile mitochondrial disease|LIMM SCTID:766251006|Orphanet:254857|UMLS:C1838876|OMIM:551000|ICD10:G71.3|MESH:C564017 owl:Class HGNC:7499 biolink:NamedThing MT-TT tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18647 biolink:NamedThing RTN4IP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013536 biolink:NamedThing heme oxygenase 1 deficiency tmpte7i6ely_mondo_relaxed.owl HMOX1D|heme oxygenase 1 deficiency MESH:C564200|UMLS:C1841651|OMIM:614034|Orphanet:562509 owl:Class HGNC:5013 biolink:NamedThing HMOX1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21957 biolink:NamedThing KCTD7 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:121791 biolink:NamedThing Nipah henipavirus tmpte7i6ely_mondo_relaxed.owl Nipah-virus|Nipah virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013686 biolink:NamedThing anatomical conduit space tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002045 biolink:NamedThing dendritic A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. tmpte7i6ely_mondo_relaxed.owl dendriform|dendroid|dendroidal owl:Class OBO:CHR_9606-chr11q22.2-q22.3 biolink:NamedThing 11q22.2-q22.3 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class NCBITaxon:5740 biolink:NamedThing Giardia tmpte7i6ely_mondo_relaxed.owl Giardia GC_ID:1 ncbi_taxonomy owl:Class HGNC:2707 biolink:NamedThing ACE tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007389 biolink:NamedThing paired limb/fin cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014090 biolink:NamedThing polydactyly, postaxial, type A6 tmpte7i6ely_mondo_relaxed.owl polydactyly, postaxial, type A6|PAPA6 UMLS:C3808889|Orphanet:93334|OMIM:615226 owl:Class N9e88059bd59547b8a5f4979ea8fe4892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0014020 biolink:NamedThing primary neural tube formation The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. tmpte7i6ely_mondo_relaxed.owl primary neural tube morphogenesis|primary neurulation owl:Class HGNC:16175 biolink:NamedThing RSPO4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2570 biolink:NamedThing CYB5A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020385 biolink:NamedThing congenitally uncorrected transposition of the great arteries with coarctation tmpte7i6ely_mondo_relaxed.owl TGA with coarctation|congenitally uncorrected transposition of the great vessels with coarctation Orphanet:99042|ICD10:Q20.3 owl:Class HGNC:3546 biolink:NamedThing F8 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005469 biolink:NamedThing right thymus lobe tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21056 biolink:NamedThing ERMARD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016421 biolink:NamedThing toxic oil syndrome Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. tmpte7i6ely_mondo_relaxed.owl Orphanet:227972|MedDRA:10051222|SCTID:239910001 owl:Class MONDO:0009607 biolink:NamedThing methionine adenosyltransferase deficiency Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. tmpte7i6ely_mondo_relaxed.owl Mat I/III deficiency|isolated persistent hypermethioninemia|brain demyelination due to methionine adenosyltransferase deficiency|methionine adenosyltransferase I/III deficiency|MAT deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency|MAT I/III deficiency Orphanet:168598|GARD:0008397|ICD10:E72.1|NCIT:C123435|OMIM:250850 owl:Class HGNC:6903 biolink:NamedThing MAT1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032608 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 3 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3|MC1DN3 OMIM:618224 owl:Class HGNC:7714 biolink:NamedThing NDUFS7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001732 biolink:NamedThing trigonitis Inflammation of the trigone of the urinary bladder. tmpte7i6ely_mondo_relaxed.owl inflammation of trigone of urinary bladder|trigone of urinary bladder inflammation ICD9:595.3|SCTID:74445007|ICD10:N30.3|DOID:13507|UMLS:C1261278|NCIT:C123175 owl:Class UBERON:0009768 biolink:NamedThing distal interphalangeal joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013785 biolink:NamedThing intellectual disability, autosomal recessive 34 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal recessive 34, with variant lissencephaly|CRADD autosomal recessive non-syndromic intellectual disability|MRT34|autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD|intellectual disability, autosomal recessive 34|mental retardation, autosomal recessive 34, with variant lissencephaly|mental retardation, autosomal recessive 34|intellectual disability, autosomal recessive type 34|mental retardation, autosomal recessive type 34 UMLS:C3281044|NCIT:C153179|OMIM:614499 owl:Class HGNC:2340 biolink:NamedThing CRADD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016864 biolink:NamedThing Okihiro syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl Duane-radial ray syndrome due to a point mutation ICD10:Q87.8|UMLS:CN202209|Orphanet:261647 owl:Class MONDO:0018586 biolink:NamedThing zinc-responsive necrolytic acral erythema tmpte7i6ely_mondo_relaxed.owl NAE|necrolytic acral erythema SCTID:762543009|ICD10:L53.8|Orphanet:439196|UMLS:CN237615 owl:Class CHEBI:27363 biolink:NamedThing zinc atom tmpte7i6ely_mondo_relaxed.owl Zn|cinc|Zink|Zn2+|zinc|zincum|Zn(II)|30Zn owl:Class UBERON:0004190 biolink:NamedThing renal glomerulus vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6494 biolink:NamedThing LAMC3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17397 biolink:NamedThing BANF1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:25555 biolink:NamedThing nitrogen atom tmpte7i6ely_mondo_relaxed.owl nitrogen|7N|azote|Stickstoff|N|nitrogeno owl:Class GO:0001705 biolink:NamedThing ectoderm formation The formation of ectoderm during gastrulation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014779 biolink:NamedThing Wilms tumor 6 Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. tmpte7i6ely_mondo_relaxed.owl Wilms tumor type 6|Wilms tumor 6|Wilms tumor 6; WT6|WT6 OMIM:616806 owl:Class HGNC:8754 biolink:NamedThing PCYT1A tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002634 biolink:NamedThing epithelial cell of anal column An epithelial cell of the anal column. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-07-08T12:11:38Z cell owl:Class HGNC:6218 biolink:NamedThing KCNA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011369 biolink:NamedThing hypercholesterolemia, autosomal dominant, 3 Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. tmpte7i6ely_mondo_relaxed.owl low density lipoprotein cholesterol level quantitative trait locus 1|hypercholesterolemia, autosomal dominant, type 3|hypercholesterolemia, autosomal dominant, 3|Fh3|HCHOLA3|familial hypercholesterolemia caused by mutation in PCSK9|PCSK9 familial hypercholesterolemia MESH:C566337|UMLS:C1863551|OMIM:603776 owl:Class NCBITaxon:71585 biolink:NamedThing Balantioides coli tmpte7i6ely_mondo_relaxed.owl Paramecium coli|Neobalantidium coli|Balantidium coli GC_ID:1|PMID:23556024|PMID:25185665 ncbi_taxonomy owl:Class N55eac12ae5714606817021bdd81a3664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0007566 biolink:NamedThing embryo implantation Attachment of the blastocyst to the uterine lining. tmpte7i6ely_mondo_relaxed.owl blastocyst implantation owl:Class CHEBI:79314 biolink:NamedThing flame retardant Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. tmpte7i6ely_mondo_relaxed.owl flame retardants owl:Class MONDO:0013989 biolink:NamedThing developmental and epileptic encephalopathy, 14 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene. tmpte7i6ely_mondo_relaxed.owl DEE14|KCNT1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 14|early infantile epileptic encephalopathy caused by mutation in KCNT1|EIEE14|epileptic encephalopathy, early infantile, type 14 OMIM:614959|Orphanet:293181|DOID:0080439|UMLS:C3554195 owl:Class MONDO:0014939 biolink:NamedThing congenital myasthenic syndrome 20 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene. tmpte7i6ely_mondo_relaxed.owl SLC5A7 congenital myasthenic syndrome|congenital myasthenic syndrome type 20|myasthenic syndrome, congenital, 20, presynaptic|congenital myasthenic syndrome 20 presynaptic|CMS20|congenital myasthenic syndrome caused by mutation in SLC5A7 DOID:0110661|UMLS:C4310694|OMIM:617143 owl:Class HGNC:11530 biolink:NamedThing TACSTD2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002184 biolink:NamedThing cytoplasmic translational termination The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011858 biolink:NamedThing Reduced factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpte7i6ely_mondo_relaxed.owl Low factor IX activity UMLS:C4023159 Severe deficiency of factor IX underlies hemophilia B. peter 2012-05-26T11:35:57Z human_phenotype owl:Class MONDO:0007286 biolink:NamedThing cataract 30 A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13. tmpte7i6ely_mondo_relaxed.owl cataract Coppock-like|CTRCT30|cataract 30|cataract 30 pulverulent|cataract 30, multiple types|cataract type 30|cataract 30, pulverulent UMLS:C3805411|Orphanet:98984|MESH:C566157|DOID:0110248|ICD10:Q12.0|Orphanet:91492|OMIM:116300 owl:Class HGNC:8548 biolink:NamedThing P4HB tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001735 biolink:NamedThing Acute pancreatitis A acute form of pancreatitis. tmpte7i6ely_mondo_relaxed.owl Acute pancreatic inflammation|Pancreatitis, acute SNOMEDCT_US:197456007|UMLS:C0001339 HP:0004512 human_phenotype owl:Class CL:2000046 biolink:NamedThing ventricular cardiac muscle cell Any cardiac muscle cell that is part of a cardiac ventricle. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-08-12T20:50:28Z cell owl:Class NCBITaxon:34620 biolink:NamedThing Dermacentor andersoni tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:4083 biolink:NamedThing GABRB3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002441 biolink:NamedThing histamine secretion involved in inflammatory response The regulated release of histamine by a cell as part of an inflammatory response. tmpte7i6ely_mondo_relaxed.owl histamine secretion involved in acute inflammatory response owl:Class MONDO:0009213 biolink:NamedThing Fanconi anemia complementation group C Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. tmpte7i6ely_mondo_relaxed.owl Fanconi pancytopenia type 3|Fanconi Anemia, complementation group type C|FA3|Fanconi anemia complementation group C|FANCC|Fanconi pancytopenia, type 3|Fanconi anemia, complementation group C|FACC|Fanconi anemia complementation group type C|facc OMIM:227645|UMLS:C3468041|DOID:0111087|NCIT:C125704 owl:Class HGNC:10978 biolink:NamedThing SLC24A4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050885 biolink:NamedThing neuromuscular process controlling balance Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. tmpte7i6ely_mondo_relaxed.owl regulation of balance owl:Class HGNC:2379 biolink:NamedThing CRTAP tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001576 biolink:NamedThing increased pressure A pressure which is relatively high. tmpte7i6ely_mondo_relaxed.owl high pressure owl:Class UBERON:0034715 biolink:NamedThing pineal tract tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003067 biolink:NamedThing dorsolateral placode tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011203 biolink:NamedThing urachus mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11825 biolink:NamedThing NKX2-1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018142 biolink:NamedThing caudal vertebra endochondral element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017918 biolink:NamedThing white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition. tmpte7i6ely_mondo_relaxed.owl familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency|Curatolo-Cilio-Pessagno syndrome|Curatolo Cilio Pessagno syndrome Orphanet:3207|GARD:0005560|UMLS:C2931292|MESH:C536701 https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome owl:Class MONDO:0010759 biolink:NamedThing Wildervanck syndrome Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness. tmpte7i6ely_mondo_relaxed.owl Cervicooculoacoustic syndrome|Wildervanck syndrome|cervico-oculo-acoustic dysplasia|COA syndrome|cervico-oculo-acoustic syndrome Orphanet:3456|ICD10:Q87.8|GARD:0005569|SCTID:79665007|OMIM:314600|ICD9:759.89|UMLS:C0265239|MedDRA:10069402 https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome owl:Class MONDO:0023258 biolink:NamedThing glycogen storage disease type 1 due to SLC37A4 mutation Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. tmpte7i6ely_mondo_relaxed.owl SLC37A4 glycogen storage disease I|glycogen storage disease I caused by mutation in SLC37A4|glucose-6-phosphate translocase deficiency|G6P translocase deficiency HGNC:4061|MESH:C536831|UMLS:C2931345|GARD:0002501 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency owl:Class HGNC:4061 biolink:NamedThing SLC37A4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005066 biolink:NamedThing right ventricular trabecular myocardium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:777 biolink:NamedThing Coxiella burnetii tmpte7i6ely_mondo_relaxed.owl Rickettsia burneti|Rickettsia diaporica PMID:9226923|GC_ID:11 ncbi_taxonomy owl:Class HP:0000842 biolink:NamedThing Hyperinsulinemia An increased concentration of insulin in the blood. tmpte7i6ely_mondo_relaxed.owl Elevated insulin level UMLS:C0020459|MSH:D006946|SNOMEDCT_US:83469008 human_phenotype owl:Class MONDO:0011381 biolink:NamedThing dominant beta-thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. tmpte7i6ely_mondo_relaxed.owl thalassemia-beta, dominant inclusion-body|dyserythropoietic Anemia, congenital, Irish or Weatherall type|inclusion body beta-thalassemia|beta-thalassemia, dominant inclusion body type SCTID:716682000|UMLS:C1858990|MESH:C565834|UMLS:C4274391|OMIM:603902|Orphanet:231226|ICD10:D56.1 owl:Class MONDO:0001137 biolink:NamedThing Murray valley encephalitis An disease caused by infection with Murray Valley encephalitis virus. tmpte7i6ely_mondo_relaxed.owl Murray Valley encephalitis virus disease or disorder|Murray Valley encephalitis virus caused disease or disorder|Murray Valley encephalitis virus infectious disease|Australian encephalitis|Australian X disease ICD9:062.4|SCTID:66454007|DOID:10842|UMLS:C0153066|ICD10:A83.4 owl:Class MONDO:0010389 biolink:NamedThing X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene. tmpte7i6ely_mondo_relaxed.owl atypical Mycobacteriosis, familial, X-linked 2|immunodeficiency 34|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|X-linked MSMD due to CYBB deficiency|immunodeficiency 34, Mycobacteriosis, X-linked|CYBB X-linked mendelian susceptibility to mycobacterial diseases|immunodeficiency type 34|IMD34 OMIM:300645|Orphanet:319605|Orphanet:319623|ICD10:D84.8|MESH:C567068|UMLS:C1970859 owl:Class MONDO:0006450 biolink:NamedThing therapy-related myeloid neoplasm Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. tmpte7i6ely_mondo_relaxed.owl therapy-related AML and MDS|therapy-related myeloid neoplasms|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related|therapy-related acute myeloid leukemia and myelodysplastic syndrome|TMN|therapy-related myeloid neoplasm ICDO:9920/3|EFO:1000575|ONCOTREE:TMN|NCIT:C27912 owl:Class MAXO:0000014 biolink:NamedThing radiation therapy Treatment of a disease by means of exposure of the target or the whole body to radiation. Radiation therapy is often used as part of curative therapy and occasionally as a component of palliative treatment for cancer. Other uses include total body irradiation prior to transplantation. tmpte7i6ely_mondo_relaxed.owl radiotherapy|radiotherapeutics|radiation|RT|radiation therapy procedure owl:Class OBO:CHR_9606-chr19q13.11 biolink:NamedThing 19q13.11 (Human) tmpte7i6ely_mondo_relaxed.owl 35100000 31900000 hg38 owl:Class HGNC:25740 biolink:NamedThing CEP78 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0005024 biolink:NamedThing somatomotor neuron A motor neuron that innervates a skeletal muscle. These motor neurons are all excitatory and cholinergic. tmpte7i6ely_mondo_relaxed.owl somatic motor neuron owl:Class UBERON:0007500 biolink:NamedThing epithelial tube open at both ends tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005327 biolink:NamedThing mesonephric glomerular epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0017163 biolink:NamedThing skin bony tubercle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012488 biolink:NamedThing muscle layer of duodenum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014174 biolink:NamedThing renal-hepatic-pancreatic dysplasia 2 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. tmpte7i6ely_mondo_relaxed.owl renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|NEK8 renal-hepatic-pancreatic dysplasia|RHPD2|renal-hepatic-pancreatic dysplasia type 2|renal-hepatic-pancreatic dysplasia 2 Orphanet:294415|UMLS:C3809434|OMIM:615415 owl:Class MONDO:0014569 biolink:NamedThing lethal congenital contracture syndrome 7 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene. tmpte7i6ely_mondo_relaxed.owl lethal congenital contracture syndrome caused by mutation in CNTNAP1|CNTNAP1 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 7|LCCS7|lethal congenital contracture syndrome 7 OMIM:616286|UMLS:C4225386|Orphanet:2680 owl:Class HGNC:8011 biolink:NamedThing CNTNAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:493 biolink:NamedThing ANK2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001613 biolink:NamedThing occipital artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008266 biolink:NamedThing periodontal ligament tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100091 biolink:NamedThing inherited pseudoxanthoma elasticum An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. tmpte7i6ely_mondo_relaxed.owl inherited PXE|inherited Gronblad Strandberg syndrome GARD:0009643 Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0010797 biolink:NamedThing Pearson syndrome Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. tmpte7i6ely_mondo_relaxed.owl Pearson's syndrome|sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)|Pearson's marrow/pancreas syndrome|Pearson marrow-pancreas syndrome SCTID:237985009|ICD9:277.87|DOID:0060067|ICD10:D64.0|UMLS:C0342784|Orphanet:699|MedDRA:10062941|OMIM:557000|NCIT:C115326|GARD:0007343 https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome owl:Class HP:0001924 biolink:NamedThing Sideroblastic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). tmpte7i6ely_mondo_relaxed.owl Sideroblastic anaemia|Hypersideremic anaemia|Hypersideremic anemia SNOMEDCT_US:41841004|UMLS:C0002896|MSH:D000756 Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. HP:0100791 human_phenotype owl:Class MONDO:0008251 biolink:NamedThing familial pityriasis rubra pilaris A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. tmpte7i6ely_mondo_relaxed.owl Devergie's disease|PRP|pityriasis rubra pilaris--familial type|pityriasis rubra pilaris|hereditary pityriasis rubra pilaris ICD10:L44.0|MedDRA:10035116|UMLS:C2930842|MESH:D010916|Orphanet:2897|GARD:0007401|OMIM:173200|ICD9:696.4|NCIT:C85014|DOID:9212|MESH:C531784|SCTID:3755001|UMLS:C0032027 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class FOODON:03307455 biolink:NamedThing cow milk (raw) tmpte7i6ely_mondo_relaxed.owl raw milk|milk SUBSET_SIREN:F7455 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * has quality 'not heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440003) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) * has consumer 'not pasteurized claim or use' (http://purl.obolibrary.org/obo/FOODON_03510121) http://langual.org subset_siren owl:Class MONDO:0013515 biolink:NamedThing osteogenesis imperfecta type 6 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, type 6|OI type 6|SERPINF1 osteogenesis imperfecta|osteogenesis imperfecta, type VI|osteogenesis imperfecta type VI|OI type VI|OI6|osteogenesis imperfecta caused by mutation in SERPINF1|SERPINFI- related osteogenesis imperfecta|osteogenesis imperfecta type GARD:0008700|OMIM:613982|DOID:0110350|Orphanet:216812|ICD10:Q78.0|Orphanet:216820|UMLS:C3279564|MESH:C536047 owl:Class MONDO:0012559 biolink:NamedThing primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. tmpte7i6ely_mondo_relaxed.owl immunodeficiency due to defect in MAPBP-interacting PROTEIN|immunodeficiency due to defect in Mapbp-interacting Protein|primary immunodeficiency syndrome due to LAMTOR2 deficiency|primary immunodeficiency syndrome with short stature ICD10:D82.8|UMLS:C1835829|SCTID:718717004|OMIM:610798|UMLS:C4305256|Orphanet:90023|MESH:C563663 owl:Class HGNC:17616 biolink:NamedThing IL17RD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003345 biolink:NamedThing hilar cholangiocarcinoma A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts. tmpte7i6ely_mondo_relaxed.owl hilar cholangiocellular carcinoma|hilar portion of hepatic duct cholangiocarcinoma|perihilar cholangiocarcinoma|cholangiocarcinoma of hilar portion of hepatic duct|Klatskin's tumor|perihilar extrahepatic bile duct carcinoma|hilar cholangiocarcinoma|hilar CCA|Klatskin tumor|hilar CC Orphanet:99978|ICD10:C24.0|EFO:1001005|SCTID:253017000|DOID:5246|MESH:D018285|NCIT:C36077|GARD:0010175|DOID:4927|UMLS:C0206702 https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor owl:Class MONDO:0008167 biolink:NamedThing dermoid cyst of ovary A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral. tmpte7i6ely_mondo_relaxed.owl ovary dermoid cyst|ovarian dermoid cyst|dermoid cyst, ovarian|teratoma, ovarian|dermoid cyst of the ovary|dermoid cyst (& [ovarian])|dermoid cyst of ovary UMLS:C0280131|NCIT:C3856|DOID:5117|MESH:C562731|UMLS:C0237020|OMIM:166950 owl:Class MONDO:0024343 biolink:NamedThing pityriasis simplex tmpte7i6ely_mondo_relaxed.owl pityriasis simplex|furfuracea|dandruff ICD9:690.18|SCTID:200767005 owl:Class OBO:CHR_9606-chr5q35 biolink:NamedThing 5q35 (Human) tmpte7i6ely_mondo_relaxed.owl 181538259 169000000 hg38 owl:Class MONDO:0012655 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl myoclonic epilepsy, juvenile, susceptibility to, 4|EJM4 OMIM:611364|UMLS:C1969656|Orphanet:307|DOID:0111327 owl:Class UBERON:0011645 biolink:NamedThing iliofemoralis muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000271 biolink:NamedThing tuberculous salpingitis An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. tmpte7i6ely_mondo_relaxed.owl fallopian tube tuberculosis DOID:0050166|ICD10:A18.17|UMLS:C0275933|ICD9:016.6|ICD9:016.60|SCTID:49558004 owl:Class MONDO:0043003 biolink:NamedThing familial acanthosis nigricans An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary acanthosis nigricans (disease)|acanthosis nigricans MESH:C531598|OMIM:100600|UMLS:C2930792|UMLS:C0000889 owl:Class CL:1001611 biolink:NamedThing cerebellar neuron Neuron of the cerebellum. tmpte7i6ely_mondo_relaxed.owl cerebellum neuron CALOHA:TS-2359|FMA:84665 owl:Class HGNC:2728 biolink:NamedThing DDOST tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021390 biolink:NamedThing polyp of ureter A polyp that involves the ureter. tmpte7i6ely_mondo_relaxed.owl polyp of the ureter|ureter polyp|ureteral polyp SCTID:197821004|NCIT:C4530|UMLS:C0346269|ICD9:593.89 owl:Class MONDO:0014088 biolink:NamedThing advanced sleep phase syndrome 2 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene. tmpte7i6ely_mondo_relaxed.owl advanced sleep phase syndrome type 2|familial advanced sleep phase syndrome 2|FASPS2|advanced sleep phase syndrome, familial, type 2|advanced sleep phase syndrome caused by mutation in CSNK1D|CSNK1D advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 2 Orphanet:164736|OMIM:615224|UMLS:C3808874|DOID:0110012 owl:Class HGNC:2452 biolink:NamedThing CSNK1D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007126 biolink:NamedThing spondyloarthropathy, susceptibility to, 1 Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene. tmpte7i6ely_mondo_relaxed.owl Marie-Strumpell spondylitis|HLA-B spondyloarthropathy, susceptibility to|spondyloarthropathy, susceptibility to, type 1|susceptibility to spondyloarthropathy 1|spondyloarthropathy, susceptibility to caused by mutation in HLA-B|SPDA1|Bechterew syndrome|spondyloarthropathy, susceptibility to, 1|ankylosing spondylitis, susceptibility to OMIM:106300|DOID:0080603 owl:Class HGNC:4932 biolink:NamedThing HLA-B tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1773 biolink:NamedThing Mycobacterium tuberculosis tmpte7i6ely_mondo_relaxed.owl Bacillus tuberculosis|Mycobacterium tuberculosis var. hominis|Bacterium tuberculosis|Mycobacterium tuberculosis variant tuberculosis|Mycobacterium tuberculosis typus humanus GC_ID:11|PMID:29205127 NCBITaxon:2528440 ncbi_taxonomy owl:Class MONDO:0007387 biolink:NamedThing Cornelia de Lange syndrome 1 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene. tmpte7i6ely_mondo_relaxed.owl Cornelia de Lange syndrome caused by mutation in NIPBL|Cdl|Brachmann-De Lange syndrome|typus Degenerativus Amstelodamensis|NIPBL Cornelia de Lange syndrome|CDLS1|De Lange syndrome|Cornelia De Lange syndrome type 1|Cornelia de Lange syndrome 1|Cornelia DE Lange syndrome 1 ICD9:759.89|OMIM:122470|UMLS:CN029798|DOID:0080505|SCTID:40354009|Orphanet:199|UMLS:C0270972 owl:Class HGNC:28862 biolink:NamedThing NIPBL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014158 biolink:NamedThing nephronophthisis 16 Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. tmpte7i6ely_mondo_relaxed.owl nephronophthisis 16|autosomal recessive infantile NPHP|nephronophthisis (disease) caused by mutation in ANKS6|ANKS6 nephronophthisis (disease)|autosomal recessive infantile nephronophthisis|infantile nephronophthisis|NPHP16|nephronophthisis type 16 OMIM:615382|ICD10:Q61.5|DOID:0111124|Orphanet:655|UMLS:C3809320|SCTID:444558002 owl:Class MONDO:0021464 biolink:NamedThing benign neoplasm of cecum A benign neoplasm that involves the caecum. tmpte7i6ely_mondo_relaxed.owl benign tumor of the cecum|benign cecum neoplasm|caecum benign neoplasm|benign tumor of cecum|benign cecum tumor|benign neoplasm of the cecum NCIT:C4772|ICD10:D12.0|SCTID:92040001|UMLS:C0496859 owl:Class MONDO:0003011 biolink:NamedThing mucinous tubular and spindle renal cell carcinoma A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. tmpte7i6ely_mondo_relaxed.owl mucinous tubular and spindle cell carcinoma of the kidney|renal mucinous tubular spindle cell carcinoma|mucinous tubular and spindle cell renal carcinoma|carcinoma, renal, tubular, malignant ICDO:0000/0|UMLS:C1513719|UMLS:CN203939|SCTID:764990003|NCIT:C39807|Orphanet:319322|ICD10:C64|DOID:4472|ONCOTREE:MTSCC owl:Class MONDO:0002133 biolink:NamedThing chronic rheumatic pericarditis Chronic form of rheumatic pericarditis. tmpte7i6ely_mondo_relaxed.owl rheumatic pericarditis, chronic ICD10:I09.2|UMLS:C0155561|DOID:1869|SCTID:78069008|ICD9:393 owl:Class HGNC:3432 biolink:NamedThing ERBB4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005720 biolink:NamedThing cowpox A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. tmpte7i6ely_mondo_relaxed.owl yaba ICD10:B08.010|UMLS:C0010232|DOID:8956|ICD9:051.01|EFO:0007225|SCTID:70090004|MESH:D015605 owl:Class NCBITaxon:10243 biolink:NamedThing Cowpox virus tmpte7i6ely_mondo_relaxed.owl CPXV GC_ID:1 ncbi_taxonomy owl:Class GO:0099513 biolink:NamedThing polymeric cytoskeletal fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012745 biolink:NamedThing dilated cardiomyopathy 1Z Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. tmpte7i6ely_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in TNNC1|CMD1Z|cardiomyopathy, dilated, type 1Z|dilated cardiomyopathy type 1Z|TNNC1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1Z OMIM:611879|MESH:C567506|Orphanet:154|DOID:0110434|UMLS:C2678475|ICD10:I42.0 owl:Class HGNC:2210 biolink:NamedThing COL5A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007779 biolink:NamedThing autosomal dominant Opitz G/BBB syndrome Autosomal dominant form of Opitz G/BBB syndrome. tmpte7i6ely_mondo_relaxed.owl autosomal dominant Opitz BBB/G syndrome|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|ADOS|Opitz-Frias syndrome|GBBB2|Opitz Bbbg syndrome|hypertelorism with esophageal Abnormality and hypospadias|Opitz GBBB syndrome, type 2|BBB syndrome|G syndrome|hypospadias-dysphagia syndrome|GBBB syndrome|telecanthus-hypospadias syndrome|Opitz oculogenitolaryngeal syndrome, type 2|telecanthus with associated abnormalities|Opitz GBBB syndrome, type II|Opitz-G syndrome, type 2|Opitz GBBB syndrome, autosomal dominant|autosomal dominant Opitz syndrome|hypertelorism-hypospadias syndrome|Opitz G/BBB syndrome, autosomal dominant ICD10:Q87.8|Orphanet:306588|Orphanet:2745|OMIM:145410 owl:Class MONDO:0003022 biolink:NamedThing pediatric angiosarcoma An angiosarcoma occurring in childhood. tmpte7i6ely_mondo_relaxed.owl pediatric angiosarcoma|childhood angiosarcoma (disease)|pediatric hemangiosarcoma|childhood angiosarcoma|angiosarcoma|childhood hemangiosarcoma|pediatric angiosarcoma (disease)|angiosarcoma (disease) of childhood NCIT:C9174|DOID:4505|UMLS:C0279988 owl:Class MONDO:0013531 biolink:NamedThing PSPH deficiency 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. tmpte7i6ely_mondo_relaxed.owl PSPHD|PSPH deficiency|phosphoserine phosphatase deficiency|3-phosphoserine phosphatase deficiency UMLS:C1291463|OMIM:614023|DOID:0050724|ICD10:E72.8|SCTID:124432005|Orphanet:79350|ICD9:277.6 owl:Class HGNC:9577 biolink:NamedThing PSPH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003557 biolink:NamedThing midbrain arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014634 biolink:NamedThing 46,XY sex reversal 10 tmpte7i6ely_mondo_relaxed.owl SRXY10|46,XY SEX reversal 10|46,XY Sex reversal type 10|46,XY sex reversal 10|chromosome 17Q24 deletion syndrome UMLS:C4225331|DOID:0111775|Orphanet:251510|Orphanet:242|OMIM:616425 owl:Class HGNC:11204 biolink:NamedThing SOX9 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000105 biolink:NamedThing 11-year-old human stage Child stage that refers to a child who is over 11 and under 12 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004522 biolink:NamedThing vasculature of musculoskeletal system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005637 biolink:NamedThing pyloric region epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class Ndca47c60007345ea8bf7574c35e79ee3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003806 biolink:NamedThing thyroid hyalinizing trabecular adenoma A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. tmpte7i6ely_mondo_relaxed.owl PLAT|hyalinizing trabecular tumor|hyalinizing trabecular adenoma of thyroid|thyroid gland hyalinizing trabecular tumor|thyroid hyalinizing trabecular adenoma|hyalinizing trabecular adenoma of the thyroid|paraganglioma-like adenoma|HTAT UMLS:C1336751|ICDO:8336/0|NCIT:C6846|DOID:6203|EFO:1000588|ONCOTREE:HTAT owl:Class CL:0002258 biolink:NamedThing thyroid follicular cell A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones. tmpte7i6ely_mondo_relaxed.owl follicular cell of thyroid gland|thyroid gland follicular cell|principal cell of thyroid gland BTO:0003736|FMA:68782|CALOHA:TS-1285 tmeehan 2010-09-08T01:50:08Z cell owl:Class MONDO:0013428 biolink:NamedThing Meier-Gorlin syndrome 2 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene. tmpte7i6ely_mondo_relaxed.owl Meier-Gorlin syndrome type 2|Meier-GORLIN syndrome 2|Meier-Gorlin syndrome caused by mutation in ORC4|ORC4 Meier-Gorlin syndrome|Meier-Gorlin syndrome 2|MGORS2 OMIM:613800|DOID:0080513|Orphanet:2554|UMLS:C3151097 owl:Class MONDO:0013685 biolink:NamedThing pancreatic cancer, susceptibility to, 4 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene. tmpte7i6ely_mondo_relaxed.owl PNCA4|BRCA1 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, type 4|familial pancreatic carcinoma caused by mutation in BRCA1|pancreatic cancer, susceptibility to, 4|susceptibility to pancreatic cancer 4 OMIM:614320|Orphanet:1333 owl:Class HGNC:6027 biolink:NamedThing CXCR2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003394 biolink:NamedThing mesentery of hindgut tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10294 biolink:NamedThing RPE65 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013215 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 79 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene. tmpte7i6ely_mondo_relaxed.owl TPRN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 79|autosomal recessive deafness 79|autosomal recessive nonsyndromic deafness type 79|deafness, autosomal recessive type 79|DFNB79|autosomal recessive nonsyndromic deafness caused by mutation in TPRN|autosomal recessive nonsyndromic deafness 79 OMIM:613307|DOID:0110526|UMLS:C2750082|MESH:C567651|ICD10:H90.3 owl:Class MONDO:0010746 biolink:NamedThing thumbs, congenital Clasped tmpte7i6ely_mondo_relaxed.owl thumbs, congenital Clasped|adducted thumbs syndrome|Clasped thumbs, congenital OMIM:314100|UMLS:CN074234|GARD:0010277 owl:Class HGNC:28927 biolink:NamedThing KRT71 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015580 biolink:NamedThing distal monosomy 7q36 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. tmpte7i6ely_mondo_relaxed.owl distal deletion 7q36|telomeric deletion 7q36|monosomy 7qter|distal monosomy type 7q36 ICD10:Q93.5|Orphanet:1636|SCTID:763529005 owl:Class CL:0002224 biolink:NamedThing lens epithelial cell A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth. tmpte7i6ely_mondo_relaxed.owl FMA:67559 tmeehan 2010-09-07T10:45:47Z cell owl:Class MONDO:0014322 biolink:NamedThing premature ovarian failure 9 Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene. tmpte7i6ely_mondo_relaxed.owl premature ovarian failure type 9|Pof9|HFM1 primary ovarian failure|primary ovarian failure caused by mutation in HFM1|premature ovarian failure 9 UMLS:C3810376|OMIM:615724 owl:Class HGNC:20193 biolink:NamedThing HFM1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043576 biolink:NamedThing endarteritis Inflammation of the arterial intima. tmpte7i6ely_mondo_relaxed.owl tunica intima of artery inflammation|inflammation of tunica intima of artery|Endarteritides|endarteritis EFO:0009084|SCTID:33806008|NCIT:C34581|UMLS:C0014100|MESH:D004692 owl:Class MONDO:0008265 biolink:NamedThing polycystic liver disease 1 A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. tmpte7i6ely_mondo_relaxed.owl PCLD|nonsyndromic polycystic liver disease (disease)|ADPCLD|polycystic liver disease 1|isolated congenital polycystic liver disease|isolated polycystic liver disease|isolated autosomal dominant polycystic liver disease|nonsyndromic congenital polycystic liver disease|polycystic liver disease 1 with or without kidney cysts|autosomal dominant polycystic liver disease|PCLD1|polycystic liver disease UMLS:C4255088|OMIM:174050|Orphanet:2924|ICD10:Q44.6|OMIM:617004|MedDRA:10010427|MedDRA:10048834|SCTID:716196007|UMLS:C0158683 owl:Class MONDO:0014588 biolink:NamedThing congenital myasthenic syndrome 11 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene. tmpte7i6ely_mondo_relaxed.owl CMS Ie|myasthenic syndrome, congenital, Ie|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|CMS11|myasthenic syndrome, congenital, Ie, formerly|congenital myasthenic syndrome 1e|RAPSN congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in RAPSN|Cms Ie|CMS1E|Cms Ie, formerly|congenital myasthenic syndrome type 11 DOID:0110675|Orphanet:590|OMIM:616326|MESH:C563831 owl:Class OBO:CHR_9606-chr1p2 biolink:NamedThing 1p2 (Human) tmpte7i6ely_mondo_relaxed.owl 106700000 84400000 hg38 owl:Class HGNC:15492 biolink:NamedThing ANKH tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035041 biolink:NamedThing deep temporal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002807 biolink:NamedThing right occipital lobe tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001848 biolink:NamedThing complement binding Binding to a component or product of the complement cascade. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009345 biolink:NamedThing histidinemia Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. tmpte7i6ely_mondo_relaxed.owl histidase deficiency|histidinemia|histidinuria|Hal deficiency|HIS deficiency|Histidinuria|hyperhistidinemia|histidine ammonia-lyase deficiency SCTID:410058007|Orphanet:2157|MESH:C538320|DOID:0060168|GARD:0006661|ICD10:E70.41|ICD10:E70.8|UMLS:C0220992|OMIM:235800 https://rarediseases.info.nih.gov/diseases/6661/histidinemia owl:Class UBERON:0003575 biolink:NamedThing wrist connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:481310 biolink:NamedThing Demodex folliculorum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009483 biolink:NamedThing mesentery of foregut-midgut junction tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0045665 biolink:NamedThing negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of neuron differentiation|down regulation of neuron differentiation|downregulation of neuron differentiation|inhibition of neuron differentiation owl:Class HP:0000707 biolink:NamedThing Abnormality of the nervous system An abnormality of the nervous system. tmpte7i6ely_mondo_relaxed.owl Neurological abnormality|Neurologic abnormalities|Brain and/or spinal cord issue|Abnormality of the nervous system MSH:D009421|UMLS:C0497552|SNOMEDCT_US:88425004 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. HP:0001333|HP:0006987 human_phenotype owl:Class HP:0001276 biolink:NamedThing Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. tmpte7i6ely_mondo_relaxed.owl Spasticity and rigidity of muscles|Hypertonicity|Increased muscle tone|Muscle hypertonia SNOMEDCT_US:41581000|UMLS:C0026826|SNOMEDCT_US:56731001|MSH:D009122 Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. HP:0002388 human_phenotype owl:Class MONDO:0014551 biolink:NamedThing short stature with nonspecific skeletal abnormalities tmpte7i6ely_mondo_relaxed.owl short stature with nonspecific skeletal abnormalities|SNSK UMLS:C4225399|OMIM:616255 owl:Class UBERON:0035648 biolink:NamedThing nerve innervating pinna tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013797 biolink:NamedThing chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. tmpte7i6ely_mondo_relaxed.owl Del(17)(q12)|17q12 recurrent deletion syndrome|17q12 microdeletion syndrome|monosomy 17q12|chromosome 17q12 deletion syndrome|17q12 deletion syndrome GARD:0013297|UMLS:C4518822|ICD10:Q93.5|SCTID:733519008|UMLS:C3281138|Orphanet:261265|OMIM:614527|DOID:0060404 owl:Class HGNC:24039 biolink:NamedThing CLMP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100152 biolink:NamedThing DKC1-related disorder Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. tmpte7i6ely_mondo_relaxed.owl DKC1-related disorder http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:2890 biolink:NamedThing DKC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024464 biolink:NamedThing pituitary hormone deficiency, combined, 1 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. tmpte7i6ely_mondo_relaxed.owl pituitary hormone deficiency, combined, 1|combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined 1|CPHD1|POU1F1 combined pituitary hormone deficiencies, genetic form GARD:0010601|Orphanet:95494|MESH:C567803|UMLS:C2751608|OMIM:613038 owl:Class HGNC:9210 biolink:NamedThing POU1F1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0043891 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. tmpte7i6ely_mondo_relaxed.owl NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity|triosephosphate dehydrogenase (NAD(P)+)|glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P)) owl:Class MONDO:0008173 biolink:NamedThing pachyonychia congenita 1 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. tmpte7i6ely_mondo_relaxed.owl pachyonychia congenita 1|KRT16 pachyonychia congenita|Jadassohn-Lewandowsky syndrome|Jadassohn-Lewandowsky syndrome, formerly|pachyonychia congenita, Jadassohn-Lewandowsky type|PC1|pachyonychia congenita caused by mutation in KRT16|pachyonychia congenita type 1|pachyonychia congenita, Jadassohn-Lewandowsky type, formerly SCTID:39427000|Orphanet:2309|OMIM:167200 owl:Class HGNC:1324 biolink:NamedThing C4B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012981 biolink:NamedThing hereditary spherocytosis type 4 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene. tmpte7i6ely_mondo_relaxed.owl HS4|SPH4|hereditary spherocytosis caused by mutation in SLC4A1|SLC4A1 hereditary spherocytosis|spherocytosis, type 4|spherocytosis, hereditary, 4|hereditary spherocytosis 4 Orphanet:822|OMIM:612653|UMLS:C2675212|MESH:C567208|DOID:0110919 owl:Class HGNC:29935 biolink:NamedThing SPATA16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010712 biolink:NamedThing panhypopituitarism, X-linked tmpte7i6ely_mondo_relaxed.owl pituitary dwarfism IV, formerly|pituitary dwarfism IV (formerly)|panhypopituitarism X-linked|PHPX|panhypopituitarism, X-linked|pituitary dwarfism IV GARD:0006737|MESH:C538613|SCTID:237683004|Orphanet:90695|OMIM:312000|DOID:0111779 https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked owl:Class MONDO:0008174 biolink:NamedThing pachyonychia congenita 2 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. tmpte7i6ely_mondo_relaxed.owl pachyonychia congenita, Jackson-Lawler type, formerly|PC2|pachyonychia congenita, Jackson-Lawler type|pachyonychia congenita type 2|pachyonychia congenita caused by mutation in KRT17|pachyonychia congenita 2|KRT17 pachyonychia congenita OMIM:167210|Orphanet:2309 owl:Class HGNC:6427 biolink:NamedThing KRT17 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2594 biolink:NamedThing CYP19A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6231 biolink:NamedThing KCNB1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002901 biolink:NamedThing Hypocalcemia An abnormally decreased calcium concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Low blood calcium levels|Hypocalcaemia MSH:D006996|SNOMEDCT_US:5291005|UMLS:C0020598 human_phenotype owl:Class GO:0045444 biolink:NamedThing fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. tmpte7i6ely_mondo_relaxed.owl adipogenesis|adipocyte cell differentiation|adipose cell differentiation|adipocyte differentiation owl:Class HP:0000992 biolink:NamedThing Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. tmpte7i6ely_mondo_relaxed.owl Skin photosensitivity|Photosensitivity|Sensitivity to sunlight|Sun sensitivity|Photosensitive skin|Photosensitive skin rashes MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506 HP:0005594|HP:0007538|HP:0006831 human_phenotype owl:Class UBERON:0009676 biolink:NamedThing early telencephalic vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010264 biolink:NamedThing X-linked adrenal hypoplasia congenita A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl adrenal hypoplasia congenita|adrenal hypoplasia, congenital|AHC with HHG|AHC|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|X-linked congenital adrenal hypoplasia|Addison disease, X-linked|X-linked AHC|congenital adrenal hypoplasia|cytomegalic adrenocortical hypoplasia|cytomegalic congenital adrenal hypoplasia|AHC with isolated gonadotropin deficiency|X-linked adrenal hypoplasia congenita|adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|mineralocorticoid deficiency, isolated|adrenal hypoplasia, congenital, with precocious puberty ICD10:E27.1|OMIM:202155|SCTID:93235007|DOID:0080156|Orphanet:95702|NCIT:C123725|OMIM:300200|GARD:0000555|UMLS:C0342482 owl:Class HGNC:7960 biolink:NamedThing NR0B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004465 biolink:NamedThing periampullary adenocarcinoma An adenocarcinoma that arises from the periampullary region. tmpte7i6ely_mondo_relaxed.owl periampullary adenocarcinoma|periampullary region of duodenum adenocarcinoma|periampullary cancer DOID:8110|UMLS:C1335377|NCIT:C27322 owl:Class GO:0004557 biolink:NamedThing alpha-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. tmpte7i6ely_mondo_relaxed.owl alpha-D-galactosidase activity|alpha-D-galactoside galactohydrolase activity|melibiase activity|alpha-galactoside galactohydrolase activity|alpha-galactosidase A owl:Class MONDO:0011160 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 15 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 95|autosomal recessive deafness 72|autosomal recessive deafness 15|autosomal recessive nonsyndromic deafness type 15|autosomal recessive nonsyndromic deafness 15|deafness, autosomal recessive 72|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3|autosomal recessive deafness 95|deafness, autosomal recessive type 15|DFNB15|DFNB72|DFNB95|deafness, autosomal recessive 15|GIPC3 autosomal recessive nonsyndromic deafness UMLS:C1866094|MESH:C566611|DOID:0110470|ICD10:H90.3|OMIM:601869 owl:Class HGNC:18183 biolink:NamedThing GIPC3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:987 biolink:NamedThing BCKDHB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013878 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene. tmpte7i6ely_mondo_relaxed.owl TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|PFBMFT1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Orphanet:88|EFO:1001501|OMIM:614742|UMLS:C3553617 owl:Class MONDO:0011487 biolink:NamedThing Huntington disease-like 3 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. tmpte7i6ely_mondo_relaxed.owl Huntington disease-like neurodegenerative disorder, autosomal recessive|Huntington disease-like 3|Huntington disease-like type 3|HDL3 Orphanet:157946|OMIM:604802|UMLS:C1858114|ICD10:G10|MESH:C565747 owl:Class MONDO:0013163 biolink:NamedThing nephronophthisis-like nephropathy 1 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. tmpte7i6ely_mondo_relaxed.owl NPHPL1|XPNPEP3 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in XPNPEP3|NPHP-XPNPEP3|nephronophthisis-like nephropathy type 1|nephronophthisis-like nephropathy 1 Orphanet:655|OMIM:613159|UMLS:C3150419|DOID:0111117 owl:Class MONDO:0014536 biolink:NamedThing thrombocytopenia 5 Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene. tmpte7i6ely_mondo_relaxed.owl thrombocytopenia caused by mutation in ETV6|thrombocytopenia type 5|thrombocytopenia 5|ETV6 thrombocytopenia|thrombocytopenia, autosomal dominant, 5|THC5|thrombocytopenia 5 with increased susceptibility to malignancy OMIM:616216|UMLS:C4015537 owl:Class MONDO:0100364 biolink:NamedThing genital herpes simplex type 1 infectious disorder Any herpes simplex type 1 infectious disease that involves the genitals. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0003174 biolink:NamedThing spinal cord astrocytoma A low or high grade astrocytoma that arises in the spinal cord. tmpte7i6ely_mondo_relaxed.owl astrocytoma (excluding glioblastoma) of spinal cord|astrocytoma of spinal cord|spinal cord astrocytoma|spinal cord astrocytoma (excluding glioblastoma)|astrocytoma of the spinal cord|spinal astrocytoma SCTID:254948003|EFO:1000544|DOID:4863|NCIT:C4641|UMLS:C0349540 owl:Class MONDO:0021532 biolink:NamedThing fibroma of prostate A fibroma that involves the prostate gland. tmpte7i6ely_mondo_relaxed.owl prostate gland fibroma|prostate fibroma|fibroma of the prostate NCIT:C3972|ICD9:600.20|UMLS:C0268885|SCTID:47014000 owl:Class UBERON:0004180 biolink:NamedThing mammary gland fat tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010463 biolink:NamedThing X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia|X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome Orphanet:163966|UMLS:C3275476|SCTID:719837003|OMIM:300863|ICD10:Q87.8 owl:Class HGNC:14064 biolink:NamedThing HDAC6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022349 biolink:NamedThing congenital absence of septum pellucidum The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made. tmpte7i6ely_mondo_relaxed.owl absence of septum pellucidum SCTID:253143001|MESH:C535562|GARD:0009253|ICD9:742.4 Editor note: consider representing as finding https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum owl:Class HGNC:8109 biolink:NamedThing ODC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001644 biolink:NamedThing acute proliferative glomerulonephritis Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. tmpte7i6ely_mondo_relaxed.owl post-streptococcal glomerulonephritis|proliferative glomerulonephritis, acute|acute glomerulonephritis with lesion of proliferative glomerulonephritis SCTID:197579006|DOID:13138|NCIT:C35443|ICD9:580.0|UMLS:C0341692|UMLS:C0403414 owl:Class UBERON:0022288 biolink:NamedThing surface of eyeball tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0036194 biolink:NamedThing muscle cell projection A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpte7i6ely_mondo_relaxed.owl myopodia|muscle arm|myocyte projection owl:Class MONDO:0011760 biolink:NamedThing Scheie syndrome Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. tmpte7i6ely_mondo_relaxed.owl MPS I S|MPSIS|mucopolysaccharidosis Is|MPS1-S|mucopolysaccharidosis type V|MPS1S|Scheie syndrome|MPS V, formerly|MPS V|mucopolysaccharidosis type IS|mucopolysaccharidosis type V, formerly|MPS5, formerly|mucopolysaccharidosis type 1S ICD10:E76.0|UMLS:C0026708|GARD:0012561|Orphanet:579|OMIM:607016|DOID:0060222|Orphanet:93474|NCIT:C61265 https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome owl:Class MONDO:0015311 biolink:NamedThing autism-facial port-wine stain syndrome This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions. tmpte7i6ely_mondo_relaxed.owl autism with port-wine stain UMLS:CN199278|Orphanet:137911|GARD:0010303 https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain owl:Class MONDO:0007931 biolink:NamedThing vitelliform macular dystrophy 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. tmpte7i6ely_mondo_relaxed.owl vitelliform macular dystrophy, type 2|Best disease|macular degeneration, polymorphic vitelline|vitelliform macular dystrophy, early-onset|VMD2|vitelliform macular dystrophy, juvenile-onset|Best vitelliform macular dystrophy, multifocal|polymorphic vitelline macular degeneration|macular dystrophy, vitelliform, 2|BMD|early-onset vitelliform macular dystrophy|vitelliform macular dystrophy type 2|macular dystrophy, vitelliform, type 2|macular Degeneration, polymorphic vitelline|BVMD|juvenile-onset vitelliform macular dystrophy|Best macular dystrophy|BEST1 retinopathy OMIM:153700|SCTID:763387005|GARD:0010301|UMLS:C0339510|GARD:0000182|Orphanet:1243|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy owl:Class UBERON:0001265 biolink:NamedThing trabecula of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001944 biolink:NamedThing Dehydration tmpte7i6ely_mondo_relaxed.owl Dehydration|Exsiccosis UMLS:C0011175|SNOMEDCT_US:34095006|MSH:D003681 human_phenotype owl:Class ENVO:01001155 biolink:NamedThing astrogeological gas An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium. tmpte7i6ely_mondo_relaxed.owl gas owl:Class UBERON:0003368 biolink:NamedThing epithelium of hard palate tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26214 biolink:NamedThing porphyrins Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. tmpte7i6ely_mondo_relaxed.owl porphyrins owl:Class MONDO:0014367 biolink:NamedThing Aicardi-Goutieres syndrome 7 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene. tmpte7i6ely_mondo_relaxed.owl AGS7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome type 7|IFIH1 Aicardi-Goutieres syndrome UMLS:C3888244|OMIM:615846|Orphanet:51 owl:Class MONDO:0016331 biolink:NamedThing infantile systemic hyalinosis Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. tmpte7i6ely_mondo_relaxed.owl ICD10:E78.8|Orphanet:2176|SCTID:238867003|OMIM:228600 owl:Class HP:0009755 biolink:NamedThing Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. tmpte7i6ely_mondo_relaxed.owl Eyelid synechiae|Eyelids stuck together|Ankyloblepharon filiforme adnatum|Adhesion of eyelids UMLS:C0339182|MSH:C536373|SNOMEDCT_US:400952003|SNOMEDCT_US:193953008|UMLS:C1302999 A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. peter 2009-01-31T08:52:59Z human_phenotype owl:Class MONDO:0012510 biolink:NamedThing combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in MRPS16|COXPD2|corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis|combined oxidative phosphorylation deficiency type 2|combined oxidative phosphorylation deficiency 2|MRPS16 combined oxidative phosphorylation deficiency Orphanet:254920|SCTID:764943000|UMLS:C1864843|OMIM:610498|MESH:C566468|DOID:0111483|ICD10:E88.8 owl:Class NCBITaxon:163159 biolink:NamedThing Xenopsylla cheopis tmpte7i6ely_mondo_relaxed.owl oriental rat flea GC_ID:1 ncbi_taxonomy owl:Class HGNC:9788 biolink:NamedThing RAB7A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011113 biolink:NamedThing Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|CMT4C|SH3TC2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4C|Charcot Marie Tooth disease type 4C|Charcot-Marie-Tooth neuropathy type 4C|CMT 4C|Charcot-Marie-Tooth neuropathy, type 4C NCIT:C129864|OMIM:601596|SCTID:715797002|ICD10:G60.0|MESH:C535423|UMLS:C1866636|DOID:0110183|GARD:0009201|Orphanet:99949 https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c owl:Class HGNC:29427 biolink:NamedThing SH3TC2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29079 biolink:NamedThing KDM1A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018019 biolink:NamedThing lead poisoning 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. tmpte7i6ely_mondo_relaxed.owl Lead intoxication|saturnism|plumbism ICD9:984.9|SCTID:38342005|MESH:D007855|ICD10:T56.0|Orphanet:330015|ICD9:984.8 owl:Class MONDO:0003842 biolink:NamedThing childhood cerebellar astrocytic neoplasm Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. tmpte7i6ely_mondo_relaxed.owl cerebellar astrocytoma, childhood|pediatric astrocytoma of cerebellum|childhood astrocytic tumor of cerebellum|pediatric cerebellar astrocytoma|childhood cerebellar astrocytoma|childhood astrocytoma of the cerebellum|childhood astrocytoma of cerebellum|cerebellar astrocytoma|pediatric astrocytoma of the cerebellum|cerebellum juvenile astrocytoma|cerebellum childhood astrocytic tumor GARD:0009301|UMLS:C0278594|DOID:6286|NCIT:C6286 owl:Class HP:0000347 biolink:NamedThing Micrognathia Developmental hypoplasia of the mandible. tmpte7i6ely_mondo_relaxed.owl Micromandible|Decreased size of lower jaw|Lower jaw deficiency|Small jaw|Micrognathia of lower jaw|Decreased projection of lower jaw|Mandibular retrognathia|Severe hypoplasia of mandible|Robin mandible|Small mandible|Deficiency of lower jaw|Mandibular hypoplasia|Mandibular micrognathia|Small lower jaw|Decreased projection of mandible|Underdevelopment of mandible|Hypotrophic mandible|Retrusion of lower jaw|Mandibular retrusion|Hypoplasia of mandible|Decreased size of mandible|Hypoplastic mandible|Hypotrophic lower jaw|Hypoplasia of lower jaw|Lower jaw retrusion|Little mandible|Mandibular deficiency|Hypoplastic mandible condyle|Little lower jaw|Underdevelopment of lower jaw|Lower jaw hypoplasia MSH:D008844|SNOMEDCT_US:32958008|Fyler:4163|UMLS:C1857130|UMLS:C0025990|UMLS:C0240295 Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. HP:0000210|HP:0005470|HP:0000345|HP:0002005|HP:0002674|HP:0000330|HP:0005460|HP:0004669 human_phenotype owl:Class CHEBI:60027 biolink:NamedThing polymer A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. tmpte7i6ely_mondo_relaxed.owl Polymer|Kunststoff owl:Class UBERON:0001186 biolink:NamedThing left renal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035216 biolink:NamedThing thoracic part of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7728 biolink:NamedThing NEDD4L tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005215 biolink:NamedThing transporter activity Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. tmpte7i6ely_mondo_relaxed.owl carrier owl:Class UBERON:0006538 biolink:NamedThing respiratory system fluid/secretion tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17129 biolink:NamedThing SLC39A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021146 biolink:NamedThing headache disorder Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) tmpte7i6ely_mondo_relaxed.owl headache disorder|headache, chronic|cephalgia syndromes|chronic daily headache|headaches, chronic daily|daily headaches, chronic|chronic headaches|chronic daily headaches|headaches, chronic|intractable headache|headaches, intractable|cephalgia syndrome|headache, chronic daily|headache, intractable|chronic headache|intractable headaches|headache syndrome|headache syndromes|daily headache, chronic|syndrome, headache SCTID:230461009|MESH:D020773 owl:Class MONDO:0009770 biolink:NamedThing 3MC syndrome 1 Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. tmpte7i6ely_mondo_relaxed.owl craniosynostosis with 51D anomalies|3MC1|Michels syndrome|3MC syndrome 1|MASP1 3MC syndrome|3MC syndrome type 1|oculopalatoskeletal syndrome|3Mc syndrome type 1|Michels syndrome, formerly|3MC syndrome caused by mutation in MASP1 UMLS:C0796059|DOID:0060575|EFO:1001978|Orphanet:2506|Orphanet:293843|OMIM:257920 owl:Class HP:0001548 biolink:NamedThing Overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. tmpte7i6ely_mondo_relaxed.owl Generalised overgrowth|General overgrowth|Generalized overgrowth UMLS:C1851731|UMLS:C1849265|UMLS:C3150281 human_phenotype owl:Class MONDO:0006830 biolink:NamedThing leukoplakia of penis A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene. tmpte7i6ely_mondo_relaxed.owl kraurosis of penis|leukoplakia of the penis|kraurosis penis|penile leukoplakia DOID:8738|EFO:1001015|MedDRA:10024394|UMLS:C0022782|ICD9:607.0|SCTID:3323003|ICD10:N48.0|NCIT:C3151 owl:Class MONDO:0021534 biolink:NamedThing rectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpte7i6ely_mondo_relaxed.owl carcinoid tumor of rectum|rectum neuroendocrine neoplasm G1|rectal carcinoid tumor|rectum NET G1|carcinoid of rectum|rectum neuroendocrine tumor, well differentiated, low grade|rectum carcinoid tumor (disease)|carcinoid tumor of the rectum|rectum carcinoid tumor|carcinoid of the rectum|grade 1 neuroendocrine neoplasm of rectum|rectal carcinoid|rectal NET G1|rectal neuroendocrine tumor G1 UMLS:C1335678|SCTID:713306000|NCIT:C5547 owl:Class MONDO:0013824 biolink:NamedThing Joubert syndrome 17 Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. tmpte7i6ely_mondo_relaxed.owl JBTS17|Joubert syndrome type 17|Joubert syndrome 17|CPLANE1 Joubert syndrome|Joubert syndrome caused by mutation in CPLANE1 UMLS:C3553264|OMIM:614615|DOID:0110986|Orphanet:475 owl:Class GO:0005902 biolink:NamedThing microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. tmpte7i6ely_mondo_relaxed.owl microvilli owl:Class MONDO:0004302 biolink:NamedThing chief cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. tmpte7i6ely_mondo_relaxed.owl chief cell adenoma of parathyroid gland|parathyroid chief cell adenoma|parathyroid gland chief cell adenoma|chief cell adenoma of the parathyroid gland|chief cell adenoma of parathyroid|chief cell adenoma|chief cell adenoma of the parathyroid UMLS:C0334320|NCIT:C4154|DOID:7607|ICDO:8321/0 owl:Class HGNC:12029 biolink:NamedThing TRAC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020549 biolink:NamedThing invasive hydatidiform mole A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. tmpte7i6ely_mondo_relaxed.owl chorioadenoma Destruens|invasive gestational trophoblastic neoplasm|IHM|invasive Mole|invasive hydatidiform Mole|chorioadenoma destruens|chorioadenoma|invasive hydatidiform mole MESH:D002820|ICDO:9100/1|UMLS:C0008493|SCTID:416669000|ONCOTREE:IHM|NCIT:C6985|ICD10:D39.2|Orphanet:99925 owl:Class MONDO:0002092 biolink:NamedThing small intestine leiomyoma A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpte7i6ely_mondo_relaxed.owl leiomyoma, small bowel|leiomyoma of small intestine|leiomyoma of the small intestine|small intestinal leiomyoma|small intestine leiomyoma|leiomyoma, small intestine|small bowel leiomyoma|leiomyoma of the small bowel|leiomyoma of small bowel SCTID:424279009|NCIT:C7725|UMLS:C0238197|DOID:1738 owl:Class MONDO:0041403 biolink:NamedThing toxic amblyopia A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors. tmpte7i6ely_mondo_relaxed.owl nutritional optic neuropathy|tobacco amblyopia SCTID:30483005 owl:Class NCBITaxon:71584 biolink:NamedThing Balantidium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0048845 biolink:NamedThing venous blood vessel morphogenesis The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart. tmpte7i6ely_mondo_relaxed.owl venous morphogenesis|vein morphogenesis owl:Class UBERON:0005090 biolink:NamedThing muscle structure tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002099 biolink:NamedThing Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. tmpte7i6ely_mondo_relaxed.owl Bronchial asthma|Asthma|Reactive airway disease SNOMEDCT_US:991000119106|SNOMEDCT_US:195967001|MSH:D001249|UMLS:C3714497|UMLS:C0004096 HP:0002112 human_phenotype owl:Class HGNC:18620 biolink:NamedThing COG4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009772 biolink:NamedThing oculorenocerebellar syndrome tmpte7i6ely_mondo_relaxed.owl ORC syndrome|absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy|oculorenocerebellar syndrome|absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy GARD:0004050|Orphanet:2715|OMIM:257970|UMLS:C1850331|MESH:C537739 https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome owl:Class MONDO:0003893 biolink:NamedThing rete testis adenoma A benign epithelial neoplasm arising from the rete testis. tmpte7i6ely_mondo_relaxed.owl adenoma, rete testis, benign|rete testis adenoma NCIT:C39956|UMLS:C1514910|DOID:6483 owl:Class UBERON:0004803 biolink:NamedThing penis epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018353 biolink:NamedThing refractory celiac disease Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia. tmpte7i6ely_mondo_relaxed.owl refractory CD|intractable celiac sprue|refractory sprue|type II refractory sprue|type I refractory sprue UMLS:CN226092|EFO:0009266|Orphanet:398063|ICD10:K90.0 owl:Class UBERON:0006913 biolink:NamedThing lip epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008846 biolink:NamedThing atransferrinemia Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. tmpte7i6ely_mondo_relaxed.owl congenital hypotransferrinemia|familial hypotransferrinemia|atransferrinemia|transferrin serum level quantitative trait locus 1|hereditary atransferrinemia|hypotransferrinemia, familial|congenital atransferrinemia SCTID:111571009|Orphanet:1195|UMLS:C0521802|ICD10:E88.0|DOID:0050649|GARD:0009595|OMIM:209300|NCIT:C125693|MESH:C538259 https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia owl:Class MONDO:0014724 biolink:NamedThing Joubert syndrome 24 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome type 24|Joubert syndrome 24|JBTS24|Joubert syndrome caused by mutation in TCTN2|TCTN2 Joubert syndrome OMIM:616654|UMLS:C4084841|DOID:0110993 owl:Class UBERON:0035815 biolink:NamedThing paracardial fat tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015022 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and ptosis tmpte7i6ely_mondo_relaxed.owl intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP|IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis EFO:0009070|OMIM:617333|UMLS:C4310617 owl:Class MONDO:0003355 biolink:NamedThing ovary leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of ovary|ovarian leiomyosarcoma|ovary leiomyosarcoma|leiomyosarcoma of the ovary NCIT:C5234|EFO:0006718|UMLS:C1335163|DOID:5263 owl:Class NCBITaxon:138949 biolink:NamedThing Enterovirus B tmpte7i6ely_mondo_relaxed.owl Enterovirus EV-B|Human enterovirus B GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000294 biolink:NamedThing mesocestoidiasis An disease or disorder caused by infection with Mesocestoides. tmpte7i6ely_mondo_relaxed.owl infection caused by Mesocestoides|Mesocestoides infectious disease|Mesocestoides caused disease or disorder|Mesocestoides disease or disorder|infection by Mesocestoides UMLS:C0277110|UMLS:C0277108|DOID:0050253|SCTID:85750001 owl:Class NCBITaxon:53467 biolink:NamedThing Mesocestoides tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0007147 biolink:NamedThing female meiosis II The cell cycle process in which the second meiotic division occurs in the female germline. tmpte7i6ely_mondo_relaxed.owl female meiosis II nuclear division owl:Class CHEBI:25355 biolink:NamedThing mitochondrial respiratory-chain inhibitor tmpte7i6ely_mondo_relaxed.owl mitochondrial respiratory chain inhibitors|mitochondrial electron-transport chain inhibitor|mitochondrial electron transport chain inhibitors owl:Class MONDO:0013413 biolink:NamedThing retinitis pigmentosa 45 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in CNGB1|retinitis pigmentosa type 45|CNGB1 retinitis pigmentosa|RP45|retinitis pigmentosa 45 DOID:0110402|ICD10:H35.5|OMIM:613767|UMLS:C3151066 owl:Class HGNC:2151 biolink:NamedThing CNGB1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035545 biolink:NamedThing deep lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010430 biolink:NamedThing intellectual disability, X-linked 97 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene. tmpte7i6ely_mondo_relaxed.owl MRX97|intellectual disability, X-linked 97|ZNF711 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|Mrxz|intellectual disability, X-linked 65|mental retardation, X-linked type 97|mental retardation, X-linked 97|mental retardation, X-linked 65 UMLS:C2749020|MESH:C567583|OMIM:300803 owl:Class HGNC:13128 biolink:NamedThing ZNF711 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001215 biolink:NamedThing visible spectrum stellar radiation A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 380 nm and 760 nm. tmpte7i6ely_mondo_relaxed.owl optical stellar radiation|visible spectrum solar radiation owl:Class MONDO:0011921 biolink:NamedThing aural atresia, congenital tmpte7i6ely_mondo_relaxed.owl CAA|aural atresia, congenital|aural atresia, congenital, with hyposmia UMLS:C1842937|OMIM:607842|Orphanet:141074|MESH:C564321 owl:Class HGNC:10669 biolink:NamedThing TSHZ1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012112 biolink:NamedThing hypertrophic cardiomyopathy 10 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. tmpte7i6ely_mondo_relaxed.owl MYL2 hypertrophic cardiomyopathy|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2|hypertrophic cardiomyopathy caused by mutation in MYL2|cardiomyopathy, familial hypertrophic, 10|hypertrophic cardiomyopathy type 10|hypertrophic cardiomyopathy 10|CMH10|cardiomyopathy, familial hypertrophic, type 10 MESH:C563865|UMLS:C1834460|DOID:0110316|OMIM:608758 owl:Class MONDO:0019143 biolink:NamedThing angiostrongyliasis A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. tmpte7i6ely_mondo_relaxed.owl ICD9:128.8|DOID:0050256|NCIT:C128394|GARD:0000683|ICD10:B83.2|UMLS:C0392662|MedDRA:10069517|ICD10:B81.3|Orphanet:74|MESH:C536369|SCTID:61750000 https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis owl:Class MONDO:0033620 biolink:NamedThing myofibrillar myopathy 10 tmpte7i6ely_mondo_relaxed.owl MFM10 OMIM:619040 owl:Class HGNC:11480 biolink:NamedThing SVIL tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9023 biolink:NamedThing PKP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014162 biolink:NamedThing infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in MRPL44|combined oxidative phosphorylation deficiency 16|combined oxidative phosphorylation defect type 16|combined oxidative phosphorylation deficiency type 16|MRPL44 combined oxidative phosphorylation deficiency|COXPD16 ICD10:I42.2|OMIM:615395|UMLS:C3809339|GARD:0012892|DOID:0111469|Orphanet:352563 owl:Class HGNC:16650 biolink:NamedThing MRPL44 tmpte7i6ely_mondo_relaxed.owl owl:Class N103f504d005f4930a58badfcf8b53c0c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010041 biolink:NamedThing Charlevoix-Saguenay spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl spastic ataxia, Charlevoix-Saguenay type|sacs|spastic ataxia Charlevoix-Saguenay type|SPAX6|autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|autosomal recessive spastic ataxia type 6|spastic ataxia 6, autosomal recessive|spastic ataxia of Charlevoix-Saguenay|ARSACS SCTID:702445005|DOID:0050946|Orphanet:98|UMLS:C1849140|ICD10:G11.1|GARD:0004910|OMIM:270550|MESH:C536787 owl:Class NCIT:C12378 biolink:NamedThing Digestive System tmpte7i6ely_mondo_relaxed.owl IMDRF:E10 owl:Class UBERON:0004534 biolink:NamedThing right testis tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11050 biolink:NamedThing SLC6A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015727 biolink:NamedThing mosaic trisomy 15 Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. tmpte7i6ely_mondo_relaxed.owl chromosome 15, trisomy mosaicism|Mosaic trisomy type 15|Mosaic trisomy chromosome 15|trisomy 15 mosaicism MESH:C538037|SCTID:764619001|ICD10:Q92.1|GARD:0005313|Orphanet:1706|UMLS:CN035788 owl:Class MONDO:0008774 biolink:NamedThing 2-aminoadipic 2-oxoadipic aciduria tmpte7i6ely_mondo_relaxed.owl 2-aminoadipic 2-oxoadipic aciduria|Ketoadipicaciduria|AMOXAD|alpha-aminoadipic aciduria MESH:C565453|ICD10:E72.3|DOID:0111453|Orphanet:79154|OMIM:204750|OMIM:245130|UMLS:C1855626 owl:Class MONDO:0009118 biolink:NamedThing disseminated sclerosis with narcolepsy tmpte7i6ely_mondo_relaxed.owl disseminated sclerosis with narcolepsy MESH:C565621|UMLS:C1857229|OMIM:223300 owl:Class MONDO:0012718 biolink:NamedThing hypotonia with lactic acidemia and hyperammonemia This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 5|COXPD5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22|combined oxidative phosphorylation deficiency type 5|combined oxidative phosphorylation defect type 5|MRPS22 combined oxidative phosphorylation deficiency UMLS:C2673642|Orphanet:137908|UMLS:C4510567|ICD10:E88.8|SCTID:724279004|MESH:C567126|DOID:0111473|OMIM:611719 owl:Class HGNC:14508 biolink:NamedThing MRPS22 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006550 biolink:NamedThing fibroepithelial polyp of urethra A benign polypoid lesion of mesodermal origin that arises from the urethra. tmpte7i6ely_mondo_relaxed.owl fibroepithelial polyp of the urethra|urethra skin tag|fibroepithelial polyp of urethra|urethral fibroepithelial polyp|skin tag of urethra|urethra fibroepithelial polyp DOID:8108|EFO:1000700|NCIT:C6170|UMLS:C1336884 owl:Class MONDO:0006582 biolink:NamedThing mongolian spot A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. tmpte7i6ely_mondo_relaxed.owl Mongolian macula|congenital dermal melanocytosis|blue sacral spot EFO:1000736|NCIT:C3945|DOID:4702|SCTID:40467008|MESH:D049328|UMLS:C0265985|Wikipedia:Mongolian_spot owl:Class UBERON:0002093 biolink:NamedThing spinal dura mater tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:447135 biolink:NamedThing Myodes glareolus tmpte7i6ely_mondo_relaxed.owl Bank vole|bank vole|Clethrionomys glareolus GC_ID:1 NCBITaxon:51090 ncbi_taxonomy owl:Class UBERON:0035074 biolink:NamedThing duct of apocrine sweat gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014806 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 1 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. tmpte7i6ely_mondo_relaxed.owl TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|spinal muscular atrophy with congenital bone fractures type 1|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy with congenital bone fractures 1|SMA1 with congenital bone fractures|SMABF1|spinal muscular atrophy type 1 with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4 OMIM:616866|GARD:0004947|UMLS:C4225177|OMIM:271225|MESH:C564805|UMLS:C1849101 owl:Class UBERON:0014400 biolink:NamedThing hepatic sinusoidal space tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014447 biolink:NamedThing Bardet-Biedl syndrome 19 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome type 19|Bardet-Biedl syndrome caused by mutation in IFT27|IFT27 Bardet-Biedl syndrome|Bardet-Biedl syndrome 19|BBS19 UMLS:C3889475|ICD10:Q87.89|DOID:0110141|OMIM:615996 owl:Class GO:0001841 biolink:NamedThing neural tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpte7i6ely_mondo_relaxed.owl neural tube morphogenesis|neurulation owl:Class GO:0043020 biolink:NamedThing NADPH oxidase complex A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. tmpte7i6ely_mondo_relaxed.owl flavocytochrome b558|respiratory-burst oxidase owl:Class MONDO:0016370 biolink:NamedThing Marchiafava-Bignami disease Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism. tmpte7i6ely_mondo_relaxed.owl metabolic bone disorder|Marchiafava Bignami disease|chronic Marchiafava-Bignami syndrome|acute Marchiafava-Bignami disease|MBD|metabolic bone disease ICD10:G37.1|MESH:D054319|EFO:1001809|MedDRA:10026828|NCIT:C97045|UMLS:C0238265|ICD9:341.8|Orphanet:221074|SCTID:386766007|GARD:0006971 https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease owl:Class MONDO:0001613 biolink:NamedThing vertebrobasilar insufficiency Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated. tmpte7i6ely_mondo_relaxed.owl vertebrobasilar arterial insufficiency|vertebrobasilar artery syndrome|vertebrobasilar insufficiency|vertebro-basilar insufficiency DOID:13003|MESH:D014715|SCTID:195199008|ICD10:G45.0|ICD9:435.3|UMLS:C0042568|EFO:1001449 owl:Class MONDO:0005299 biolink:NamedThing brain ischemia Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage. tmpte7i6ely_mondo_relaxed.owl ischemic encephalopathy|brain ischemic disease|ischemia cerebrovascular|brain ischemia|ischaemic encephalopathy|ischemic disease of brain|cerebrovascular ischemia NCIT:C78394|EFO:0003883|MESH:D002545|ICD9:348.89|DOID:2316|SCTID:389100007|UMLS:C0007786 owl:Class MONDO:0011667 biolink:NamedThing maturity-onset diabetes of the young type 4 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. tmpte7i6ely_mondo_relaxed.owl type 4 maturity-onset diabetes of the young|MODY4|MODY, type 4|MODY type 4|diabetes mellitus MODY type 4|maturity-onset diabetes of the young, type 4|PDX1 maturity-onset diabetes of the young (disease)|maturity onset diabetes of the Young, type 4|PDX1-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|MODY insulin promoter factor-1 related GARD:0010659|Orphanet:552|NCIT:C129746|MESH:C563451|SCTID:609571007|DOID:0111103|OMIM:606392 https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4 owl:Class HGNC:6107 biolink:NamedThing PDX1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23247 biolink:NamedThing DNAL1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8619 biolink:NamedThing PAX5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10440 biolink:NamedThing RPS7 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50336 biolink:NamedThing 4-hydroxybenzyl group tmpte7i6ely_mondo_relaxed.owl 4-hydroxybenzyl|tyrosine side-chain owl:Class HGNC:11782 biolink:NamedThing TH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014850 biolink:NamedThing retinitis pigmentosa and erythrocytic microcytosis tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa and erythrocytic microcytosis; RPEM|RPEM|retinitis pigmentosa and erythrocytic microcytosis UMLS:C4310776|OMIM:616959 owl:Class HGNC:17341 biolink:NamedThing TRNT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010026 biolink:NamedThing ventral part of pharyngeal pouch 3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008736 biolink:NamedThing peroxisome biogenesis disorder 2B tmpte7i6ely_mondo_relaxed.owl PBD2B|peroxisome biogenesis disorder 2B|peroxisome biogenesis disorder type 2B Orphanet:772|OMIM:202370|UMLS:C3550234|Orphanet:44|DOID:0080622|UMLS:C0282525 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0011313 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene. tmpte7i6ely_mondo_relaxed.owl PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1|Meg-PMG-Megacc syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|MPPH1|megalencephaly, mega corpus callosum, and complete lack of motor development|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2 Orphanet:83473|MESH:C566381|OMIM:603387 owl:Class HGNC:8980 biolink:NamedThing PIK3R2 tmpte7i6ely_mondo_relaxed.owl owl:Class N2394de13c9e1445d94a7c234e7cc4b4a biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016283 biolink:NamedThing leiomyosarcoma of the cervix uteri Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver. tmpte7i6ely_mondo_relaxed.owl CELI|leiomyosarcoma of uterine cervix|uterine cervix leiomyosarcoma|cervical leiomyosarcoma ICD10:C53.8|Orphanet:213807|SCTID:763771009|ICD10:C53.0|NCIT:C128047|ONCOTREE:CELI|UMLS:CN201073|ICD10:C53.1|UMLS:C4289817 owl:Class MONDO:0010186 biolink:NamedThing vitamin D-dependent rickets, type 2A Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. tmpte7i6ely_mondo_relaxed.owl Pddr 2A|generalized resistance to 1,25-dihydroxyvitamin D|VDDR2A|vitamin D-dependent rickets, type 2A, with or without alopecia|vitamin d-dependent rickets type II with alopecia|vitamin D-dependent rickets, type 2A|rickets-alopecia syndrome|VDR vitamin D-dependent rickets, type 2|vitamin D-dependent rickets, type 2 caused by mutation in VDR|vitamin D dependent rickets 2a|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia|Pseudovitamin D-deficiency, type 2A|hypocalcemic vitamin D-resistant rickets|vitamin D receptor deficiency rickets|rickets, hereditary vitamin D-resistant Orphanet:93160|UMLS:C0342646|NCIT:C131075|SCTID:237894002|OMIM:277440 owl:Class MONDO:0010253 biolink:NamedThing migraine, familial typical, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, 2|migraine, familial typical, susceptibility to, type 2|Mfts|Mgr2|migraine, familial typical, susceptibility to, 2 OMIM:300125 owl:Class N04eccbda857a42d9bea990a349efe89f biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021099 biolink:NamedThing intraductal papillomatosis A neoplastic process characterized by the presence of multiple intraductal papillomas. tmpte7i6ely_mondo_relaxed.owl duct papillomatosis|intraductal papillomatosis NCIT:C7363|ICDO:8505/0|UMLS:C0334377 owl:Class MONDO:0013645 biolink:NamedThing autosomal recessive spinocerebellar ataxia 11 Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14|SCAR11|spinocerebellar ataxia, autosomal recessive type 11|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome|spinocerebellar ataxia, autosomal recessive 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 11|autosomal recessive spinocerebellar ataxia 11 ICD10:G11.1|Orphanet:284271|DOID:0080063|OMIM:614229|UMLS:C3280226 owl:Class MONDO:0001741 biolink:NamedThing hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism Orphanet:99879|ICD10:E21.3|EFO:0008506|ICD9:252.00|MESH:D006961|DOID:13543|ICD9:252.0|UMLS:C0020502|SCTID:66999008|NCIT:C48259 owl:Class MONDO:0013923 biolink:NamedThing microcephaly 9, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene. tmpte7i6ely_mondo_relaxed.owl microcephaly 9, primary, autosomal recessive|CEP152 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CEP152|MCPH9 UMLS:C3553886|DOID:0070292|OMIM:614852 owl:Class HGNC:3579 biolink:NamedThing FAH tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000283 biolink:NamedThing lake layer A layer which is part of a lake. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007707 biolink:NamedThing hemangiomas of small intestine A hemangioma that involves the small intestine. tmpte7i6ely_mondo_relaxed.owl small intestine hemangioma|hemangiomas of small intestine|hemangioma of small intestine MESH:C564201|OMIM:140900|UMLS:C1841654 owl:Class MONDO:0006077 biolink:NamedThing adrenal medullary hyperplasia A hyperplasia that involves the adrenal medulla. tmpte7i6ely_mondo_relaxed.owl adrenal medulla hyperplasia NCIT:C35838|EFO:1000076 owl:Class MONDO:0010178 biolink:NamedThing congenital bilateral aplasia of vas deferens from CFTR mutation An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis. tmpte7i6ely_mondo_relaxed.owl congenital bilateral aplasia of the vas deferens|CAVD|CBAVD|vas deferens, congenital bilateral aplasia of OMIM:277180|Orphanet:48|NCIT:C129303 owl:Class HGNC:1884 biolink:NamedThing CFTR tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000276 biolink:NamedThing smooth muscle fiber of duodenum A smooth muscle cell that is part of the duodenum. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of duodenum FMA:15058 cell owl:Class CL:1000281 biolink:NamedThing smooth muscle cell of cecum A smooth muscle cell that is part of the cecum. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of cecum|smooth muscle fiber of cecum FMA:15681 cell owl:Class MONDO:0009704 biolink:NamedThing carnitine palmitoyl transferase II deficiency, myopathic form The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. tmpte7i6ely_mondo_relaxed.owl carnitine palmitoyl transferase II deficiency, myopathic form|CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|CPTII, adult-onset form|CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced|Carnitine Palmitoyltransferase 2 deficiency, myopathic|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|CPT2, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|Carnitine palmitoyl transferase deficiency type 2, myopathic form|CPT 2 deficiency, myopathic|CPTII, myopathic form|Carnitine palmitoyl transferase II deficiency, adult-onset form|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|CPT2, myopathic form|Cpt2 deficiency, late-onset Orphanet:157|OMIM:255110|ICD10:E71.3|Orphanet:228302|UMLS:C1833508|MESH:C563461 owl:Class MONDO:0007412 biolink:NamedThing Beare-Stevenson cutis gyrata syndrome Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. tmpte7i6ely_mondo_relaxed.owl cutis gyrata - acanthosis nigricans - craniosynostosis|Beare-Stevenson cutis gyrata syndrome|cutis gyrata-acanthosis nigricans-craniosynostosis syndrome|Beare-Stevenson syndrome|Beare Stevenson syndrome|BSTVS|cutis gyrata syndrome of Beare and Stevenson OMIM:123790|ICD10:Q87.8|Orphanet:1555|NCIT:C123813|DOID:0050660|ICD9:759.89|MESH:C565129|UMLS:C1852406|GARD:0000332|SCTID:703528008 https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome owl:Class HGNC:6554 biolink:NamedThing LEPR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010412 biolink:NamedThing epididymal fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013443 biolink:NamedThing Seckel syndrome 5 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene. tmpte7i6ely_mondo_relaxed.owl SCKL5|Seckel syndrome type 5|Seckel syndrome 5|CEP152 Seckel syndrome|Seckel syndrome caused by mutation in CEP152 OMIM:613823|Orphanet:808|DOID:0070012|UMLS:C3151187 owl:Class HGNC:14135 biolink:NamedThing PIGQ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014466 biolink:NamedThing Neu-Laxova syndrome 2 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene. tmpte7i6ely_mondo_relaxed.owl Neu-Laxova syndrome caused by mutation in PSAT1|PSAT1 Neu-Laxova syndrome|NLS2|NEU-Laxova syndrome 2|Neu-Laxova syndrome 2|Neu-Laxova syndrome type 2 UMLS:C4015019|DOID:0080075|OMIM:616038|Orphanet:2671 owl:Class HGNC:19129 biolink:NamedThing PSAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007844 biolink:NamedThing hypogonadotropic hypogonadism 2 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism 2 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FGFR1|Kallmann syndrome 2|FGFR1 hypogonadotropic hypogonadism|KAL2|HH2 OMIM:147950|DOID:0090083|UMLS:C1563720|GARD:0003070|ICD10:E23.0 owl:Class MONDO:0015795 biolink:NamedThing undifferentiated embryonal sarcoma of the liver Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. tmpte7i6ely_mondo_relaxed.owl embryonal sarcoma of the liver|UES|undifferentiated sarcoma of the liver Orphanet:178315|SCTID:716648006|ONCOTREE:UESL owl:Class MONDO:0010326 biolink:NamedThing intellectual disability, X-linked 46 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked type 46|mental retardation, X-linked 46|non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|mental retardation, X-linked type 46|MRX46|ARHGEF6 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 46 UMLS:C1845526|OMIM:300436|MESH:C564513|Orphanet:777 owl:Class MONDO:0014376 biolink:NamedThing intellectual disability, autosomal dominant 27 tmpte7i6ely_mondo_relaxed.owl autosomal dominant intellectual disability 27|intellectual disability, autosomal dominant type 27|autosomal dominant non-syndromic intellectual disability 27|autosomal dominant mental retardation 27|MRD27|CSS9|Coffin-Siris syndrome 9|intellectual disability, autosomal dominant 27|mental retardation, autosomal dominant 27|mental retardation, autosomal dominant type 27 Orphanet:1465|DOID:0070057|OMIM:615866|UMLS:C4014528 owl:Class HGNC:11191 biolink:NamedThing SOX11 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003056 biolink:NamedThing pre-chordal neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3672 biolink:NamedThing FGF16 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003711 biolink:NamedThing brachiocephalic vein tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:46967 biolink:NamedThing L-erythro-sphingosine A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry. tmpte7i6ely_mondo_relaxed.owl L-Erythro-c18-sphingosine|L-erythro-sphing-4-enine|(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol owl:Class MONDO:0003209 biolink:NamedThing thymus gland adenocarcinoma A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the Thymus|adenocarcinoma of Thymus|thymus adenocarcinoma|thymic adenocarcinoma|Thymus adenocarcinoma NCIT:C6459|DOID:4923|UMLS:C1336743 owl:Class UBERON:0007289 biolink:NamedThing presumptive rhombomere 1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012092 biolink:NamedThing hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. tmpte7i6ely_mondo_relaxed.owl HSAN V|NGF autosomal recessive hereditary sensory and autonomic neuropathy|HSAN5|neuropathy, hereditary sensory and autonomic, type V|neuropathy, hereditary sensory and autonomic, type 5|HSAN 5|congenital insensitivity to pain and thermal analgesia|autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF|insensitivity to pain, congenital|hereditary sensory and autonomic neuropathy type V SCTID:128206006|PMID:77656|DOID:0070145|GARD:0012328|OMIM:608654|PMID:14976160|Orphanet:64752|GARD:12328|NCIT:C125386|ICD10:G60.8 owl:Class GO:0010463 biolink:NamedThing mesenchymal cell proliferation The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014045 biolink:NamedThing Cowden syndrome 3 Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene. tmpte7i6ely_mondo_relaxed.owl Cowden syndrome 3|Cowden syndrome type 3|Cowden disease caused by mutation in SDHD|CWS3|SDHD Cowden disease Orphanet:201|OMIM:615106|UMLS:C3554516 owl:Class GO:0043588 biolink:NamedThing skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. tmpte7i6ely_mondo_relaxed.owl animal skin development owl:Class MONDO:0017829 biolink:NamedThing autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. tmpte7i6ely_mondo_relaxed.owl AD pRTA|proximal renal tubular acidosis, autosomal dominant Orphanet:314889|ICD10:N25.8|UMLS:CN203801 owl:Class HGNC:9834 biolink:NamedThing RAI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013287 biolink:NamedThing agammaglobulinemia 2, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. tmpte7i6ely_mondo_relaxed.owl AGM2|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|autosomal agammaglobulinemia caused by mutation in IGLL1|lambda 5 deficiency|IGLL1 autosomal agammaglobulinemia|agammaglobulinemia 2, autosomal recessive OMIM:613500|DOID:0060024|UMLS:C3150750|Orphanet:33110|Orphanet:229717 owl:Class HGNC:8927 biolink:NamedThing PHKB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011860 biolink:NamedThing leprosy, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl LPRS2|leprosy, susceptibility to, 2 Orphanet:548|UMLS:C1843632|OMIM:607572 https://github.com/monarch-initiative/mondo/issues/2760 owl:Class HGNC:8607 biolink:NamedThing PRKN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11743 biolink:NamedThing TFAP2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012793 biolink:NamedThing hypouricemia, renal, 2 tmpte7i6ely_mondo_relaxed.owl gout susceptibility 2|hypouricemia, renal, type 2|RHUC2|hypouricemia, renal, 2|uric acid concentration, serum, quantitative trait locus 2 OMIM:612076|MESH:C567426|UMLS:C2677549|Orphanet:94088 owl:Class HGNC:13446 biolink:NamedThing SLC2A9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012970 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 6 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene. tmpte7i6ely_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, 6|MVCD6|microvascular complications of diabetes, susceptibility to, type 6|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|SOD2 microvascular complications of diabetes, susceptibility OMIM:612634 owl:Class HGNC:11180 biolink:NamedThing SOD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014717 biolink:NamedThing early-onset Lafora body disease Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. tmpte7i6ely_mondo_relaxed.owl epilepsy, progressive myoclonic, type 10|EPM10|epilepsy, progressive myoclonic, 10 ICD10:G40.3|Orphanet:324290|UMLS:C4518574|UMLS:C4225258|SCTID:733082001|DOID:0111445|OMIM:616640 owl:Class HGNC:13993 biolink:NamedThing PRDM8 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000274 biolink:NamedThing slate Slate is a metamorphic rock which is fine-grained, foliated, homogeneous, Slates are derived from clastic sedimentary rocks. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000271 biolink:NamedThing clastic sedimentary rock Clastic sedimentary rocks are sedimentary rocks that are composed of silicate minerals and rock fragments that were transported by moving fluids. Clastic rocks are composed largely of quartz, feldspar, rock (lithic) fragments, clay minerals, and mica; numerous other minerals may be present as accessories and may be important locally. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000961 biolink:NamedThing Bm1 B cell A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells. tmpte7i6ely_mondo_relaxed.owl Bm1 B-lymphocyte|Bm1 B lymphocyte|Bm1 B-cell These cells are also reportedly CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. cell owl:Class CHEBI:589779 biolink:NamedThing piperidinium The conjugate acid of piperidine; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl piperidine|piperidinium(1+)|piperidinium|hexahydropyridinium|piperidinium cation owl:Class UBERON:0009196 biolink:NamedThing indifferent external genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015742 biolink:NamedThing periventricular leukomalacia Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles. tmpte7i6ely_mondo_relaxed.owl PVL EFO:1001101|UMLS:C0023529|MESH:D007969|Orphanet:171676|SCTID:230769007|ICD10:P91.2|NCIT:C99013|ICD9:742.8|ICD9:779.7|MedDRA:10052594|GARD:0010285|DOID:13088 https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia owl:Class HGNC:6932 biolink:NamedThing MC4R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013945 biolink:NamedThing peroxisome biogenesis disorder 9B tmpte7i6ely_mondo_relaxed.owl PBD9B|peroxisome biogenesis disorder 9B|peroxisome biogenesis disorder, complementation group 11|peroxisome biogenesis disorder, complementation group R|Refsum disease, adult, 2|peroxisome biogenesis disorder type 9B|peroxisome biogenesis disorder, PEX7-related, atypical Orphanet:773|OMIM:614879|UMLS:CN159238 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0007298 biolink:NamedThing pronephric proximal convoluted tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001185 biolink:NamedThing dissociative amnesia A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition. tmpte7i6ely_mondo_relaxed.owl psychogenic amnesia ICD10:F44.0|ICD9:300.12|DOID:11037|NCIT:C94328|SCTID:84209002 owl:Class MONDO:0008359 biolink:NamedThing radio-renal syndrome Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl radial-renal syndrome|radio renal syndrome MESH:C536267|OMIM:179280|UMLS:C2931146|SCTID:766765009|Orphanet:3015|GARD:0000224 https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome owl:Class MONDO:0000983 biolink:NamedThing exhibitionism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. tmpte7i6ely_mondo_relaxed.owl MESH:D005084|DOID:10236|SCTID:58349009|NCIT:C94352|ICD10:F65.2|ICD9:302.4 owl:Class MONDO:0003083 biolink:NamedThing venous hemangioma A rare slow growing benign tumor of aberrant and ectatic venous connections. tmpte7i6ely_mondo_relaxed.owl Venous malformation|Venous angioma UMLS:C0334532|ICDO:9122/0|NCIT:C4296|ICD9:228.09|SCTID:403968005|DOID:467 owl:Class GO:1901361 biolink:NamedThing organic cyclic compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. tmpte7i6ely_mondo_relaxed.owl organic cyclic compound degradation|organic cyclic compound catabolism|organic cyclic compound breakdown owl:Class MONDO:0013930 biolink:NamedThing peroxisome biogenesis disorder 4A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 4|classic peroxisome biogenesis disorder|PBD4A|peroxisome biogenesis disorder, complementation group C|peroxisome biogenesis disorder 4A (Zellweger)|peroxisome biogenesis disorder, complementation group 6 DOID:0080479|OMIM:614862|UMLS:C3553936|MESH:C563301|NCIT:C155754 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013332 biolink:NamedThing brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability tmpte7i6ely_mondo_relaxed.owl brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability|Tsukahara syndrome|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation UMLS:C3150890|SCTID:719162001|OMIM:613627 owl:Class HGNC:30800 biolink:NamedThing TMIE tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000525 biolink:NamedThing Abnormality iris morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. tmpte7i6ely_mondo_relaxed.owl Abnormality of the iris UMLS:C4025845 human_phenotype owl:Class MONDO:0008986 biolink:NamedThing circumvallate placenta syndrome tmpte7i6ely_mondo_relaxed.owl circumvallate placenta syndrome UMLS:C1859089|MESH:C565847|OMIM:215550 owl:Class MONDO:0009313 biolink:NamedThing Grubben-de Cock-Borghgraef syndrome Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients. tmpte7i6ely_mondo_relaxed.owl developmental delay - hypotonia - extremities hypertrophy|growth retardation, small and puffy hands and feet, and eczema|severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin|developmental delay-hypotonia-extremities hypertrophy syndrome|Grubben de Cock Borghgraef syndrome UMLS:C2931551|OMIM:233810|MESH:C537621|ICD10:Q87.8|GARD:0002576|Orphanet:2101 https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome owl:Class MONDO:0019788 biolink:NamedThing non-secreting paraganglioma Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. tmpte7i6ely_mondo_relaxed.owl non-functioning paraganglioma Orphanet:94080|SCTID:764999002 owl:Class MONDO:0015014 biolink:NamedThing coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness tmpte7i6ely_mondo_relaxed.owl coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD|COMMAD|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness OMIM:617306|UMLS:C4310625 owl:Class GO:0006024 biolink:NamedThing glycosaminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. tmpte7i6ely_mondo_relaxed.owl glycosaminoglycan synthesis|glycosaminoglycan anabolism|glycosaminoglycan biosynthesis|glycosaminoglycan formation owl:Class UBERON:0008772 biolink:NamedThing proximal epiphysis of tibia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023093 biolink:NamedThing exertional headache tmpte7i6ely_mondo_relaxed.owl primary headache associated with sexual activity|primary Exertional headache GARD:0010800 https://rarediseases.info.nih.gov/diseases/10800/exertional-headache owl:Class MONDO:0012668 biolink:NamedThing Tented eyebrows tmpte7i6ely_mondo_relaxed.owl Tented eyebrows OMIM:611426 owl:Class MONDO:0009037 biolink:NamedThing craniosynostosis with anomalies of the cranial base and digits tmpte7i6ely_mondo_relaxed.owl craniosynostosis with anomalies of the cranial base and digits UMLS:C1857493|MESH:C565666|OMIM:218530 owl:Class MONDO:0001680 biolink:NamedThing vaginal mullerian papilloma A benign papilloma that arises from the vagina in infants and young women. tmpte7i6ely_mondo_relaxed.owl vaginal Mullerian papilloma|vaginal Muellerian papilloma|vaginal Müllerian papilloma DOID:133|UMLS:C1519926|NCIT:C40255 owl:Class HGNC:2260 biolink:NamedThing COX10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001085 biolink:NamedThing interstitial nephritis Inflammation of the renal tubules and supporting tissues of the kidney. tmpte7i6ely_mondo_relaxed.owl Tubulointerstitial nephritis|renal tubulo-interstitial disease ICD10:N12|MESH:D009395|NCIT:C26834|UMLS:C0041349|SCTID:28689008|UMLS:C0027707|DOID:1063|ICD9:583.89 owl:Class MONDO:0004810 biolink:NamedThing acute ethmoiditis Acute form of ethmoid sinusitis. tmpte7i6ely_mondo_relaxed.owl acute ethmoidal sinusitis|ethmoid sinusitis, acute|ethmoidal sinus - acute|acute ethmoid sinusitis ICD10:J01.20|ICD9:461.2|ICD10:J01.2|DOID:9506|UMLS:C0155806|SCTID:67832005 owl:Class MONDO:0017946 biolink:NamedThing ABeta amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. tmpte7i6ely_mondo_relaxed.owl HCHWA, Iowa type|cerebral amyloid angiopathy, APP-related, Iowa variant|hereditary cerebral hemorrhage with amyloidosis, Iowa type|ABetaD23N amyloidosis OMIM:605714|ICD10:E85.4+|Orphanet:324708|ICD10:I68.0* owl:Class MONDO:0009597 biolink:NamedThing metaphyseal chondrodysplasia, Spahr type tmpte7i6ely_mondo_relaxed.owl metaphyseal dysplasia, Spahr type|metaphyseal chondrodysplasia Spahr type|metaphyseal chondrodysplasia, Spahr type|MDST|Spahr type metaphyseal chondrodysplasia GARD:0003563|OMIM:250400|ICD10:Q78.5|UMLS:C0432225|SCTID:254084008|MESH:C537353|Orphanet:2501 owl:Class UBERON:0035763 biolink:NamedThing cavity of cardiac chamber tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001319 biolink:NamedThing saline water body A body of water which is primarily composed of saline water. tmpte7i6ely_mondo_relaxed.owl saline body of water owl:Class MONDO:0016839 biolink:NamedThing distal 17p13.3 microdeletion syndrome Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. tmpte7i6ely_mondo_relaxed.owl distal monosomy 17p13.3|distal del(17)(p13.3) ICD10:Q93.5|UMLS:CN202175|Orphanet:261257|SCTID:764696007 owl:Class HGNC:11909 biolink:NamedThing TNFRSF11B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010729 biolink:NamedThing X-linked intellectual disability, Schimke type X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl choreoathetosis with mental retardation, X-linked|choreoathetosis with intellectual disability X- linked|choreoathetosis with mental retardation X- linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness|Schimke X-linked intellectual disability syndrome|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness|Schimke X-linked mental retardation syndrome|choreoathetosis with intellectual disability, X-linked|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness ICD10:Q87.8|MESH:C536630|Orphanet:85285|GARD:0009288|SCTID:719010001|OMIM:312840|UMLS:C1839320 owl:Class MONDO:0014796 biolink:NamedThing autosomal recessive early-onset Parkinson disease 23 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive early-onset Parkinson disease 23|young-onset Parkinson disease caused by mutation in VPS13C|autosomal recessive early-onset Parksinson disease type 23|VPS13C young-onset Parkinson disease|autosomal recessive early-onset Parkinson's disease 23|Parkinson disease 23, autosomal recessive early-onset|PARK23 DOID:0060896|OMIM:616840|ICD10:G20|UMLS:C4225186 owl:Class GO:1901505 biolink:NamedThing carbohydrate derivative transmembrane transporter activity Enables the transfer of carbohydrate derivative from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl carbohydrate derivative transporter activity owl:Class MONDO:0001266 biolink:NamedThing erysipelas An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. tmpte7i6ely_mondo_relaxed.owl HP:0001055|SCTID:44653001|DOID:11330|ICD10:A46|UMLS:C0014733|MESH:D004886|GARD:0006370|EFO:1001462|ICD9:035 The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes https://rarediseases.info.nih.gov/diseases/6370/erysipelas owl:Class MONDO:0015041 biolink:NamedThing myelodysplastic syndrome with excess blasts-2 A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) tmpte7i6ely_mondo_relaxed.owl MDS-EB-2|RAEB-2|RAEB-II|myelodysplastic syndrome with Excess blasts-2|refractory anemia with excess blasts type 2 NCIT:C7168|UMLS:C1318551|Orphanet:100020|ICD10:D46.2 owl:Class MONDO:0030035 biolink:NamedThing leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome tmpte7i6ely_mondo_relaxed.owl LEUDEN|LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome|Leuden Syndrome OMIM:618877 owl:Class ENVO:01001040 biolink:NamedThing saline environment An environment which is determined by materials which bear significant concentrations of salts. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014712 biolink:NamedThing Senior-Loken syndrome 9 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. tmpte7i6ely_mondo_relaxed.owl Senior-Loken syndrome 9; SLSN9|SLSN9|Senior-Loken syndrome caused by mutation in TRAF3IP1|Senior-Loken syndrome type 9|TRAF3IP1 Senior-Loken syndrome|Senior-Loken syndrome 9 OMIM:616629|UMLS:C4225263 owl:Class HP:0000741 biolink:NamedThing Apathy tmpte7i6ely_mondo_relaxed.owl Lack of feeling, emotion, interest UMLS:C0085632|MSH:D057565|SNOMEDCT_US:20602000 human_phenotype owl:Class MONDO:0019133 biolink:NamedThing visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO). tmpte7i6ely_mondo_relaxed.owl Orphanet:73246|ICD10:Q87.8|UMLS:CN205657 owl:Class MONDO:0017613 biolink:NamedThing intellectual disability-hypotonia-skin hyperpigmentation syndrome tmpte7i6ely_mondo_relaxed.owl Medrano Roldan syndrome|Medrano-Roldan syndrome Orphanet:3050|GARD:0003441 https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome owl:Class MONDO:0019318 biolink:NamedThing inflammatory linear verrucous epidermal nevus tmpte7i6ely_mondo_relaxed.owl linear verrucose epidermal nevus|inflammatory linear verrucous epidermal naevus|ILVEN SCTID:399995006|Orphanet:79466|GARD:0005484|ICD10:Q82.5|UMLS:C0473574 owl:Class UBERON:3000972 biolink:NamedThing head external integument structure tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000386 biolink:NamedThing hard A hardness quality of being rigid and resistant to pressure. tmpte7i6ely_mondo_relaxed.owl firm|impenetrable|tough owl:Class GO:0055078 biolink:NamedThing sodium ion homeostasis Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006793 biolink:NamedThing hyperpituitarism Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. tmpte7i6ely_mondo_relaxed.owl MESH:D006964|DOID:2444|MedDRA:10020716|ICD9:253.1|SCTID:10649000|EFO:1000973|UMLS:C0020506 owl:Class MONDO:0013424 biolink:NamedThing 3p- syndrome Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. tmpte7i6ely_mondo_relaxed.owl chromosome 3p deletion|distal monosomy 3p|monosomy 3pter|telomeric monosomy 3p|deletion 3p|chromosome 3, monosomy 3p25|chromosome 3pter-p25 deletion syndrome|3p monosomy|partial monosomy 3p|deletion 3p25|monosomy 3p|Del(3p) syndrome|chromosome 3p- syndrome|3p deletion|distal monosomy type 3p|distal 3p deletion|3p- syndrome|del(3p25) GARD:0003750|OMIM:613792|ICD10:Q93.5|GARD:0000037|SCTID:763528002|NCIT:C41377|MESH:C536804|Orphanet:1620|DOID:0060417 owl:Class ENVO:01001549 biolink:NamedThing freezing of water into water ice A freezing process during which liquid water is transformed into water ice. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001548 biolink:NamedThing freezing A material congelation process during which a liquid turns into a solid when its temperature is lowered below its melting point. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019488 biolink:NamedThing myoclonic epilepsy in non-progressive encephalopathies A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. tmpte7i6ely_mondo_relaxed.owl myoclonus epilepsy in non-progressive encephalopathies|myoclonic status in non-progressive encephalopathies Orphanet:86913|ICD10:G40.4 owl:Class MONDO:0024228 biolink:NamedThing miliaria profunda A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. tmpte7i6ely_mondo_relaxed.owl SCTID:47317002|DOID:0070320 owl:Class CHEBI:35610 biolink:NamedThing antineoplastic agent A substance that inhibits or prevents the proliferation of neoplasms. tmpte7i6ely_mondo_relaxed.owl anticancer agents|antineoplastic agents|anticancer agent|antineoplastic|cytostatic owl:Class MONDO:0008027 biolink:NamedThing muscular atrophy, malignant neurogenic tmpte7i6ely_mondo_relaxed.owl muscular atrophy, malignant neurogenic OMIM:158650|UMLS:C1834689|MESH:C563559 owl:Class MONDO:0018252 biolink:NamedThing focal palmoplantar keratoderma with joint keratoses tmpte7i6ely_mondo_relaxed.owl Orphanet:370002|UMLS:CN204827|ICD10:Q82.8|OMIM:148700 owl:Class HGNC:8507 biolink:NamedThing OSMR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018779 biolink:NamedThing hypercontractile muscle stiffness syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:476403|UMLS:CN776841 owl:Class MONDO:0001717 biolink:NamedThing posterior corneal pigmentation tmpte7i6ely_mondo_relaxed.owl posterior corneal pigmentations DOID:13448|SCTID:267639001|ICD10:H18.05|ICD9:371.13|UMLS:C0155106 owl:Class MONDO:0015300 biolink:NamedThing cataract - microcornea syndrome Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. tmpte7i6ely_mondo_relaxed.owl microcornea cataract syndrome|cataract microcornea syndrome Orphanet:1377|OMIM:116200|GARD:0001155|ICD10:Q13.8|MESH:C538287|OMIM:601547|OMIM:115700|OMIM:604219 https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome owl:Class MONDO:0044638 biolink:NamedThing hypopharynx squamous cell carcinoma A squamous cell carcinoma that involves the hypopharynx. tmpte7i6ely_mondo_relaxed.owl hypopharyngeal epidermoid carcinoma|epidermoid carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer|squamous cell carcinoma of hypopharynx|epidermoid carcinoma of hypopharynx|hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx EFO:1001960|ONCOTREE:HPHSC|NCIT:C4043|Orphanet:494547 owl:Class GO:0009628 biolink:NamedThing response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. tmpte7i6ely_mondo_relaxed.owl response to abiotic stress owl:Class MONDO:0002062 biolink:NamedThing breast myofibroblastoma A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass. tmpte7i6ely_mondo_relaxed.owl breast myofibroblastoma DOID:1629|UMLS:C1511320|NCIT:C40397 owl:Class CHEBI:36043 biolink:NamedThing antimicrobial drug A drug used to treat or prevent microbial infections. tmpte7i6ely_mondo_relaxed.owl antimicrobial drugs owl:Class UBERON:0036300 biolink:NamedThing tributary of central retinal vein tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5094 biolink:NamedThing Talaromyces tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:28568 biolink:NamedThing Trichocomaceae tmpte7i6ely_mondo_relaxed.owl Eurotiaceae GC_ID:1 NCBITaxon:34380 ncbi_taxonomy owl:Class FOODON:03412345 biolink:NamedThing lichen A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009756 biolink:NamedThing Niemann-Pick disease type A Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. tmpte7i6ely_mondo_relaxed.owl sphingomyelinase deficiency|Niemann-PICK disease, type A|Niemann-Pick disease, Intermediate, protracted neurovisceral|sphingomyelin lipidosis UMLS:C0268242|GARD:0007206|NCIT:C126561|OMIM:257200|DOID:0070111|ICD10:E75.2|MESH:D052536|SCTID:52165006|Orphanet:77292 owl:Class MONDO:0013607 biolink:NamedThing monocytopenia with susceptibility to infections tmpte7i6ely_mondo_relaxed.owl combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|DCML|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|monocyte - B - natural killer - dendritic cell deficiency|immunodeficiency 21|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency|immunodeficiency type 21|monocytopenia and mycobacterial infection syndrome|IMD21|Dendritic cell, monocyte, B and NK lymphoid deficiency|GATA2 deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|MonoMAC|monocyte-B-natural killer-dendritic cell deficiency syndrome ICD10:D72.8|Orphanet:228423|GARD:0010934|OMIM:614172|UMLS:C3280030 owl:Class MONDO:0017460 biolink:NamedThing syndactyly type 6 Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. tmpte7i6ely_mondo_relaxed.owl mitten hand|unilateral syndactyly of digits 2-5|syndactyly, mitten type ICD10:Q70.1|SCTID:763624007|UMLS:CN203203|Orphanet:295012 owl:Class GO:0071827 biolink:NamedThing plasma lipoprotein particle organization A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. tmpte7i6ely_mondo_relaxed.owl plasma lipoprotein particle organisation owl:Class GO:0071825 biolink:NamedThing protein-lipid complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex. tmpte7i6ely_mondo_relaxed.owl protein-lipid complex subunit organisation owl:Class MONDO:0014562 biolink:NamedThing neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome tmpte7i6ely_mondo_relaxed.owl COQ10D7|COQ4-related neonatal encephalomyopathy|primary coenzyme Q10 deficiency 7|coenzyme Q10 deficiency, primary, type 7|coenzyme Q10 deficiency, primary, 7 OMIM:616276|Orphanet:457185|UMLS:C4225392|DOID:0070244 owl:Class MONDO:0008354 biolink:NamedThing purpura simplex tmpte7i6ely_mondo_relaxed.owl purpura simplex MESH:C536249|GARD:0007508|UMLS:C0272309|ICD9:287.2|OMIM:179000|SCTID:277791008 owl:Class MONDO:0016863 biolink:NamedThing Okihiro syndrome due to 20q13 microdeletion tmpte7i6ely_mondo_relaxed.owl Okihiro syndrome due to monosomy 20q13|Duane-radial ray syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13) Orphanet:261638|ICD10:Q87.8|UMLS:CN202208 owl:Class MONDO:0008596 biolink:NamedThing trichorhinophalangeal syndrome type I An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. tmpte7i6ely_mondo_relaxed.owl trichorhinophalangeal syndrome, type 1|trichorhinophalangeal syndrome type I|type III trichorhinophalangeal syndrome|trichorhinophalangeal dysplasia type I|TRPS 1|Sugio-Kajii syndrome|trichorhinophalangeal syndrome, type I|TRPS1|type I trichorhinophalangeal syndrome|Giedion syndrome|trichorhinophalangeal syndrome type 1 Orphanet:77258|ICD9:759.89|DOID:14743|OMIM:190351|NCIT:C75109|GARD:0007800|SCTID:254091006|OMIM:190350|MESH:C536820 owl:Class MONDO:0019176 biolink:NamedThing trichorhinophalangeal syndrome type I or III Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. tmpte7i6ely_mondo_relaxed.owl trichorhinophalangeal syndrome type 1 and 3 OMIM:190351|UMLS:CN205736|OMIM:190350|ICD10:Q87.1|Orphanet:77258 owl:Class IAO:8000013 biolink:NamedThing reasoned ontology module An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available. tmpte7i6ely_mondo_relaxed.owl reasoned ontology module owl:Class MONDO:0004838 biolink:NamedThing orthostatic proteinuria tmpte7i6ely_mondo_relaxed.owl postural albuminuria ICD10:R80.2|DOID:9617|UMLS:C0232867|ICD9:593.6 owl:Class MONDO:0043988 biolink:NamedThing zoster sine herpete Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. tmpte7i6ely_mondo_relaxed.owl Zoster sine Eruptione|zoster sine herpete EFO:1001827|UMLS:C1135841|MESH:D031368|SCTID:449783002 owl:Class UBERON:0006247 biolink:NamedThing iliac pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015280 biolink:NamedThing pancreas left lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020675 biolink:NamedThing ischemic bowel disorder Disease of the large or small intestine that is caused by inadequate blood supply. tmpte7i6ely_mondo_relaxed.owl ischemic bowel disease NCIT:C35212 owl:Class MONDO:0045013 biolink:NamedThing disorder of extraembryonic membrane A disease or disorder that involves the extraembryonic membrane. tmpte7i6ely_mondo_relaxed.owl disease of extraembryonic membrane|disease or disorder of extraembryonic membrane|disorder of extraembryonic membrane|extraembryonic membrane disease|extraembryonic membrane disease or disorder UMLS:C3662139|SCTID:609522002 owl:Class UBERON:0004550 biolink:NamedThing gastroesophageal sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11460 biolink:NamedThing SUOX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007675 biolink:NamedThing glutamic acid decarboxylase, brain, membrane form tmpte7i6ely_mondo_relaxed.owl glutamic acid decarboxylase, brain, membrane form OMIM:138277 owl:Class MONDO:0008716 biolink:NamedThing acrogeria A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed. tmpte7i6ely_mondo_relaxed.owl acrogeria, Gottron type|familial acrogeria|Metageria|acrometageria|Gottron syndrome GARD:0006543|OMIM:201200|SCTID:238872007|UMLS:C0238590|ICD10:L90.8|UMLS:C0406584|ICD9:259.8|Orphanet:2500|MESH:C538187 owl:Class HGNC:3023 biolink:NamedThing DRD2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12933 biolink:NamedThing ZNF148 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024813 biolink:NamedThing pulmonary sulcus neoplasm A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. tmpte7i6ely_mondo_relaxed.owl pulmonary sulcus neoplasm|pulmonary sulcus tumor NCIT:C27710 owl:Class PO:0000019 biolink:NamedThing gynoecium primordium A floral structure primordium (PO:0025477) that is committed to the development of a gynoecium (PO:0009062). tmpte7i6ely_mondo_relaxed.owl primordio de gineceo (Spanish, exact)|portion of gynoecium primordium tissue (exact)|pistil primordium (exact)|雌蕊原基(可視的） (Japanese, exact) PO_GIT:465 Use carpel primordium (PO:0004703) for the primordium (PO:0025127) of an individual carpel (PO:0009030). plant_anatomy owl:Class MONDO:0012940 biolink:NamedThing inflammatory bowel disease 24 An inflammatory bowel disease that has material basis in variation in the chromosome 20q13. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 24|inflammatory bowel disease 24|IBD24 UMLS:C2675509|MESH:C567252|DOID:0110908|OMIM:612566 owl:Class HP:0000802 biolink:NamedThing Impotence Inability to develop or maintain an erection of the penis. tmpte7i6ely_mondo_relaxed.owl Difficulty getting a full erection|Difficulty getting an erection MSH:D007172|UMLS:C0242350|SNOMEDCT_US:397803000 human_phenotype owl:Class HP:0100639 biolink:NamedThing Erectile dysfunction A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. tmpte7i6ely_mondo_relaxed.owl Abnormal erection|Erectile abnormalities doelkens 2010-12-29T05:45:28Z human_phenotype owl:Class MONDO:0013841 biolink:NamedThing stuttering, familial persistent, 3 tmpte7i6ely_mondo_relaxed.owl stuttering, familial persistent, 3|STUT3 UMLS:C3553381|OMIM:614655 owl:Class MONDO:0017181 biolink:NamedThing hypnic headache Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes. tmpte7i6ely_mondo_relaxed.owl hypnic headache|hypnic headache (disease) hypnic headache (disease) GARD:0010796|ICD9:339.81|SCTID:122711000119109|HP:0012459|MESH:D051270|Orphanet:276429|ICD10:G44.8 owl:Class MONDO:0013993 biolink:NamedThing pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. tmpte7i6ely_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1|PCH7|pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|pontocerebellar hypoplasia, type 7|TOE1 non-syndromic pontocerebellar hypoplasia DOID:0060276|UMLS:C3554226|Orphanet:284339|ICD10:Q04.3|SCTID:718605009|OMIM:614969 owl:Class MONDO:0005647 biolink:NamedThing anogenital human papillomavirus infection A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. tmpte7i6ely_mondo_relaxed.owl anogenital Human papilloma Virus infectious disease|anogenital Human papilloma Virus infection|anogenital venereal wart|condyloma acuminatum|genital wart virus infectious disease|genital Warts|anogenital Warts|venereal wart|anogenital Human Papillomavirus infection ICD10:A63.0|ICD9:078.11|NCIT:C4820|DOID:11168|MESH:D003218|SCTID:266113007|EFO:0007147 owl:Class MONDO:0011973 biolink:NamedThing zinc deficiency, transient neonatal tmpte7i6ely_mondo_relaxed.owl zinc in breast milk, reduced|TNZD|zinc deficiency, neonatal, due to Low breast milk zinc|zinc deficiency, transient neonatal MESH:C564286|OMIM:608118|UMLS:C1842486 owl:Class MONDO:0032677 biolink:NamedThing lissencephaly 9 with complex brainstem malformation tmpte7i6ely_mondo_relaxed.owl LIS9|LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM:618325|Orphanet:572013 owl:Class MONDO:0010012 biolink:NamedThing autoimmune polyendocrinopathy type 2 Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. tmpte7i6ely_mondo_relaxed.owl autoimmune polyendocrine syndrome type 2|diabetes mellitus, Addison disease, myxedema|polyglandular autoimmune syndrome, type 2|autoimmune polyglandular syndrome type 2|Schmidt syndrome|polyglandular deficiency syndrome type 2|multiple endocrine deficiency syndrome, type 2|Schmidt's syndrome|diabetes mellitus, Addison's disease, myxedema|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|autoimmune polyendocrine syndrome, type II|APS2|polyendocrine autoimmune syndrome, type 2|PGA 2|APS 2|APS type 2 DOID:0050168|Orphanet:3143|ICD10:E31.0|OMIM:269200|ICD9:258.8|GARD:0007611|NCIT:C129728|SCTID:83728000 owl:Class MONDO:0100471 biolink:NamedThing vitamin D deficiency Abnormally low level of 25-hydroxyvitamin D in the blood. tmpte7i6ely_mondo_relaxed.owl deficiency of vitamin D (disorder)|deficiency, vitamin D|VITAMIN D DEFIC|DEFIC VITAMIN D|vitamin D deficiency, NOS|vitamin D deficiencies|deficiencies, vitamin D|avitaminosis D|vitamin D insufficiency|vitamin D deficiency (disorder)|avitaminosis D, NOS HP:0100512|DOID:10574|SNOMEDCT:34713006|ICD9:268|NCIT:C114830|ICD10:E55|EFO:0003762|UMLS:C0042870|MeSH:D014808 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011174 biolink:NamedThing hyperzincemia with functional zinc depletion tmpte7i6ely_mondo_relaxed.owl hyperzincemia with functional zinc depletion OMIM:601979|UMLS:C1865986|MESH:C566595 owl:Class MONDO:0006773 biolink:NamedThing gonadal tissue neoplasm Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells. tmpte7i6ely_mondo_relaxed.owl MESH:D018309|EFO:1000953|UMLS:C0206722 owl:Class MONDO:0032821 biolink:NamedThing myopathy, congenital, progressive, with scoliosis tmpte7i6ely_mondo_relaxed.owl MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS|MYOSCO OMIM:618578 owl:Class HP:0010461 biolink:NamedThing Abnormality of the male genitalia Abnormality of the male genital system. tmpte7i6ely_mondo_relaxed.owl Abnormal male genitals|Abnormality of the male genitalia UMLS:C4023819 peter 2009-09-15T08:33:20Z human_phenotype owl:Class CL:1000306 biolink:NamedThing fibroblast of tunica adventitia of artery A fibroblast that is part of the tunica adventitia of artery. tmpte7i6ely_mondo_relaxed.owl FMA:261285 cell owl:Class MONDO:0002888 biolink:NamedThing intraorbital meningioma A meningioma that affects the intraorbital structures. tmpte7i6ely_mondo_relaxed.owl intraorbital meningioma MESH:D008579|DOID:4141|UMLS:C1334261|NCIT:C6778 owl:Class MONDO:0015562 biolink:NamedThing distal monosomy 17q Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). tmpte7i6ely_mondo_relaxed.owl chromosome 17q deletion|partial monosomy 17q|17q deletion|distal 17q deletion|deletion 17q|monosomy 17qter|telomeric deletion 17q|17q monosomy|monosomy 17q|distal monosomy type 17q GARD:0010972|UMLS:C4275171|ICD10:Q93.5|Orphanet:1597|SCTID:715365000 owl:Class GO:0097186 biolink:NamedThing amelogenesis The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. tmpte7i6ely_mondo_relaxed.owl enamel development owl:Class ENVO:00000309 biolink:NamedThing depression A landform sunken or depressed below the surrounding area. tmpte7i6ely_mondo_relaxed.owl barrier basin|tidal basin|non tidal basin|pans|pan (geologic)|depression|pan owl:Class GO:1904689 biolink:NamedThing negative regulation of cytoplasmic translational initiation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation. tmpte7i6ely_mondo_relaxed.owl down-regulation of cytoplasmic translational initiation|downregulation of cytoplasmic translational initiation|inhibition of cytoplasmic translational initiation|down regulation of cytoplasmic translational initiation owl:Class NCBITaxon:1399770 biolink:NamedThing Entomophthoromycetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1264859 biolink:NamedThing Entomophthoromycotina tmpte7i6ely_mondo_relaxed.owl Entomophthoromycota|Zygomycota PMID:27738200|PMID:17572334|GC_ID:1|PMID:17051209 NCBITaxon:451824 ncbi_taxonomy owl:Class GO:0004618 biolink:NamedThing phosphoglycerate kinase activity Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). tmpte7i6ely_mondo_relaxed.owl PGK|phosphoglyceric acid kinase activity|3-phosphoglyceric acid phosphokinase activity|3-phosphoglyceric acid kinase activity|phosphoglycerokinase activity|3-phosphoglycerate kinase activity|3-PGK|phosphoglyceric kinase activity|glycerophosphate kinase activity|glycerate 3-phosphate kinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|3-phosphoglyceric kinase activity|3-phosphoglycerate phosphokinase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity owl:Class HGNC:11013 biolink:NamedThing SLC30A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007968 biolink:NamedThing melanoma tumor antigen Gp90 tmpte7i6ely_mondo_relaxed.owl melanoma tumor antigen Gp90|Class 1 unique tumor antigen of melanoma OMIM:155770 owl:Class UBERON:0034940 biolink:NamedThing venous sinus cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018804 biolink:NamedThing MYO5B-related progressive familial intrahepatic cholestasis tmpte7i6ely_mondo_relaxed.owl MYO5B deficiency UMLS:CN776887|Orphanet:480491 owl:Class MONDO:0009193 biolink:NamedThing epithelial squamous dysplasia, keratinizing desquamative, of urinary tract tmpte7i6ely_mondo_relaxed.owl epithelial squamous dysplasia, keratinizing desquamative, of urinary tract MESH:C565584|UMLS:C1856902|OMIM:226985 owl:Class MONDO:0018103 biolink:NamedThing Quinquaud's folliculitis decalvans Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. tmpte7i6ely_mondo_relaxed.owl Quinquaud's disease|Quinquaud’s disease|Quinquaud's decalvans folliculitis|folliculitis decalvans UMLS:CN227263|GARD:0000373|ICD9:704.09|Orphanet:346|ICD10:L66.2|SCTID:53593008 https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis owl:Class MONDO:0006354 biolink:NamedThing parathyroid hyperplasia A hyperplasia that involves the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl hyperplasia of the parathyroid|hyperplasia of parathyroid|parathyroid gland hyperplasia|parathyroid hyperplasia (disease)|parathyroid hyperplasia parathyroid hyperplasia (disease) NCIT:C3989|EFO:1000457|SCTID:9092004|HP:0008208|UMLS:C0271844 owl:Class MONDO:0020841 biolink:NamedThing neurodevelopmental disorder with cerebellar atrophy and with or without seizures tmpte7i6ely_mondo_relaxed.owl NEDCAS|neurodevelopmental disorder with cerebellar atrophy and with or without seizures UMLS:CN252657|OMIM:618056 owl:Class MONDO:0022496 biolink:NamedThing arthrogryposis IUGR thoracic dystrophy A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia. tmpte7i6ely_mondo_relaxed.owl Van Bervliet syndrome GARD:0000782 https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy owl:Class MONDO:0011247 biolink:NamedThing jejunal atresia with renal adysplasia tmpte7i6ely_mondo_relaxed.owl jejunal atresia with renal adysplasia MESH:C537567|OMIM:602551|GARD:0009985|UMLS:C1865209 https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia owl:Class UBERON:0013501 biolink:NamedThing cloacal sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014783 biolink:NamedThing cloacal muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002343 biolink:NamedThing splenic hemangioma A hemangioma arising from the spleen. tmpte7i6ely_mondo_relaxed.owl splenic hemangioma|spleen hemangioma|angioma of the spleen|spleen angioma|hemangioma of spleen|angioma of spleen|hemangioma of the spleen|splenic angioma DOID:256|UMLS:C0685201|SCTID:93472004|NCIT:C8541 owl:Class MONDO:0013496 biolink:NamedThing IgA nephropathy, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl IgA nephropathy, susceptibility to, 2|IGAN2 OMIM:613944 owl:Class MONDO:0020520 biolink:NamedThing adult pulmonary Langerhans cell histiocytosis Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions. tmpte7i6ely_mondo_relaxed.owl PLCH|pulmonary Langerhans cell histiocytosis|pulmonary eosinophilic granuloma|pulmonary histiocytosis X Orphanet:99874|NCIT:C142833|SCTID:328611000119105|ICD10:C96.5|UMLS:C1455705|UMLS:C3161104|ICD10:J84.82 owl:Class GO:0046851 biolink:NamedThing negative regulation of bone remodeling Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. tmpte7i6ely_mondo_relaxed.owl downregulation of bone remodeling|inhibition of bone remodeling|down regulation of bone remodeling|down-regulation of bone remodeling owl:Class GO:0034104 biolink:NamedThing negative regulation of tissue remodeling Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011062 biolink:NamedThing aprosencephaly cerebellar dysgenesis tmpte7i6ely_mondo_relaxed.owl aprosencephaly and cerebellar dysgenesis OMIM:601374|MESH:C563331|ICD10:Q04.3|Orphanet:1126|UMLS:C1832412 owl:Class GO:0010623 biolink:NamedThing programmed cell death involved in cell development The activation of endogenous cellular processes that result in the death of a cell as part of its development. tmpte7i6ely_mondo_relaxed.owl developmental programmed cell death|programmed cell death involved in development owl:Class HGNC:10257 biolink:NamedThing ROR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004523 biolink:NamedThing clear cell squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent clear cell component. tmpte7i6ely_mondo_relaxed.owl clear cell squamous cell carcinoma of skin|clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of the skin NCIT:C4459|UMLS:C0345978|SCTID:254652000|DOID:8288 owl:Class MONDO:0011443 biolink:NamedThing febrile seizures, familial, 4 Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. tmpte7i6ely_mondo_relaxed.owl FEB4|febrile seizures, familial caused by mutation in ADGRV1|convulsions, familial febrile, 4|febrile seizures, familial, 4|ADGRV1 febrile seizures, familial|febrile seizures, familial, type 4 DOID:0111305|MESH:C565788|OMIM:604352|UMLS:C1858493 owl:Class MONDO:0004562 biolink:NamedThing breast apocrine carcinoma in situ A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation. tmpte7i6ely_mondo_relaxed.owl apocrine carcinoma in situ of breast|apocrine breast carcinoma in situ|apocrine carcinoma in situ of the breast NCIT:C5140|DOID:8428|UMLS:C1332315 owl:Class MONDO:0003867 biolink:NamedThing diffuse meningeal melanocytosis A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO) tmpte7i6ely_mondo_relaxed.owl diffuse melanocytosis|diffuse melanocytosis (morphologic abnormality)|meningeal melanocytosis|diffuse melanosis NCIT:C6890|ICDO:8728/0|UMLS:C1266112|DOID:6379|EFO:1000216 owl:Class MONDO:0009390 biolink:NamedThing hyperlysinuria with hyperammonemia tmpte7i6ely_mondo_relaxed.owl hyperlysinuria with hyperammonemia|hyperlysinemia, periodic OMIM:238750|ICD9:270.7|SCTID:342553006|UMLS:C0268555 owl:Class MONDO:0004371 biolink:NamedThing spinal multifocal clear cell meningioma A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells. tmpte7i6ely_mondo_relaxed.owl multifocal clear cell meningioma of spine|multifocal clear cell meningioma of the spine|spinal multifocal clear cell meningioma UMLS:C1336051|NCIT:C5287|DOID:7824 owl:Class MONDO:0002918 biolink:NamedThing clear cell meningioma A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells. tmpte7i6ely_mondo_relaxed.owl CCM|clear cell meningioma|clear cell meningioma (morphologic abnormality) ICDO:9538/1|NCIT:C4722|UMLS:C0431121|ONCOTREE:CCM|MESH:D008579|EFO:1000180|DOID:4210 owl:Class MONDO:0004811 biolink:NamedThing simple chronic conjunctivitis tmpte7i6ely_mondo_relaxed.owl ICD10:H10.42|ICD9:372.11|DOID:9512|UMLS:C0155146|SCTID:8211008 owl:Class GO:1904731 biolink:NamedThing positive regulation of intestinal lipid absorption Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption. tmpte7i6ely_mondo_relaxed.owl activation of intestinal lipid absorption|up regulation of intestinal lipid absorption|upregulation of intestinal lipid absorption|up-regulation of intestinal lipid absorption owl:Class ENVO:09200013 biolink:NamedThing wetness of soil The wetness of some soil. tmpte7i6ely_mondo_relaxed.owl soil wetness owl:Class CHEBI:26375 biolink:NamedThing pterins tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23805 biolink:NamedThing ASXL2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005045 biolink:NamedThing mucosa of ethmoidal sinus tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098840 biolink:NamedThing protein transport along microtubule The directed movement of a protein along a microtubule, mediated by motor proteins. tmpte7i6ely_mondo_relaxed.owl microtubule-based protein transport owl:Class MONDO:0014838 biolink:NamedThing Coffin-Siris syndrome 5 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene. tmpte7i6ely_mondo_relaxed.owl SMARCE1 Coffin-Siris syndrome|Coffin-Siris syndrome type 5|CSS5|COFFIN-SIRIS syndrome 5|Coffin-Siris syndrome 5|Coffin-Siris syndrome caused by mutation in SMARCE1 UMLS:C4310788|OMIM:616938 owl:Class HGNC:2548 biolink:NamedThing CUBN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003492 biolink:NamedThing lacrimal gland squamous cell carcinoma A squamous cell carcinoma that involves the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl lacrimal gland epidermoid carcinoma|epidermoid carcinoma of the lacrimal gland|squamous cell carcinoma of lacrimal gland|lacrimal gland squamous cell carcinoma|squamous cell carcinoma of the lacrimal gland|epidermoid carcinoma of lacrimal gland NCIT:C6092|UMLS:C1334360|DOID:5529 owl:Class UBERON:0009843 biolink:NamedThing prostate epithelial cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024463 biolink:NamedThing ovarian dysgenesis 1 tmpte7i6ely_mondo_relaxed.owl gonadal dysgenesis, XX type|ovarian dysgenesis 1|ODG1|ovarian failure, hypergonadotropic|XXGD|ovarian dysgenesis, hypergonadotropic, autosomal recessive|XX gonadal dysgenesis|gonadal dysgenesis, 20 type|ovarian dysgenesis, hypergonadotropic, with normal karyotype DOID:0080493|Orphanet:243|OMIM:233300|UMLS:C0949595 owl:Class MONDO:0017535 biolink:NamedThing central polydactyly of fingers, unilateral tmpte7i6ely_mondo_relaxed.owl mirror hand, unilateral|mesoaxial polydactyly of fingers, unilateral Orphanet:295171|ICD10:Q69.0 owl:Class HP:0012591 biolink:NamedThing Abnormal urinary electrolyte concentration An abnormality in the concentration of electrolytes in the urine. tmpte7i6ely_mondo_relaxed.owl Urinary electrolyte imbalance UMLS:C4022833 peter 2014-01-16T05:44:11Z human_phenotype owl:Class HP:0003110 biolink:NamedThing Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. tmpte7i6ely_mondo_relaxed.owl Urine issues|Pee issues UMLS:C4025655 HP:0011866|HP:0011865 human_phenotype owl:Class MONDO:0006466 biolink:NamedThing thyroid gland spindle cell tumor with thymus-like differentiation A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells. tmpte7i6ely_mondo_relaxed.owl spindle epithelial tumor with thymus-like differentiation tumor|settle tumor|settle UMLS:C1266099|EFO:1000593|ICDO:8588/3|DOID:0050923|NCIT:C46105 owl:Class UBERON:0016888 biolink:NamedThing transitional anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011650 biolink:NamedThing atrioventricular septal defect, susceptibility to, 2 Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. tmpte7i6ely_mondo_relaxed.owl AVSD2|atrioventricular septal defect caused by mutation in CRELD1|atrioventricular septal defect, partial, with heterotaxy syndrome|CRELD1 atrioventricular septal defect|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect, susceptibility to, 2|atrioventricular septal defect, susceptibility to, type 2 MESH:C565249|Orphanet:98722|OMIM:606217 owl:Class MONDO:0030531 biolink:NamedThing spermatogenic failure 65 tmpte7i6ely_mondo_relaxed.owl SPGF65 OMIM:619712 owl:Class MONDO:0001502 biolink:NamedThing retroperitoneum carcinoma A carcinoma that arises from epithelial cells of the retroperitoneal space. tmpte7i6ely_mondo_relaxed.owl carcinoma of retroperitoneal space|retroperitoneal carcinoma|carcinoma of retroperitoneum|retroperitoneal cancer|retroperitoneal space carcinoma|carcinoma of the retroperitoneum DOID:12342|UMLS:C0948749|NCIT:C7352 owl:Class MONDO:0011516 biolink:NamedThing early response to neural induction gene tmpte7i6ely_mondo_relaxed.owl Erni|early response to neural induction gene OMIM:605105 owl:Class NCBITaxon:46682 biolink:NamedThing Heterakoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001567 biolink:NamedThing nephrocalcinosis Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. tmpte7i6ely_mondo_relaxed.owl hypercalcemic nephropathy DOID:12679|UMLS:C0027709|GARD:0007177|SCTID:48638002|ICD9:275.49|MESH:D009397|NCIT:C84918 https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis owl:Class MONDO:0010015 biolink:NamedThing anterior segment dysgenesis 7 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene. tmpte7i6ely_mondo_relaxed.owl PXDN anterior segment dysgenesis|sclerocornea with Other ocular anomalies|sclerocornea with other ocular anomalies|CCMCO|anterior segment dysgenesis 7|corneal opacification with Other ocular anomalies|corneal opacification with other ocular anomalies|congenital cataract microcornea with corneal opacity|corneal opacification and other ocular anomalies|ASGD7|COPOA|anterior segment dysgenesis caused by mutation in PXDN UMLS:C3151617|Orphanet:289499|OMIM:269400|DOID:0060648 MONDO:0000817 owl:Class HP:0010550 biolink:NamedThing Paraplegia Severe or complete weakness of both lower extremities with sparing of the upper extremities. tmpte7i6ely_mondo_relaxed.owl Leg paralysis MSH:D010264|SNOMEDCT_US:60389000|UMLS:C0030486 peter 2009-10-01T08:32:57Z human_phenotype owl:Class HP:0010551 biolink:NamedThing Paraplegia/paraparesis Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023792 peter 2009-10-01T08:36:05Z human_phenotype owl:Class UBERON:0004226 biolink:NamedThing gastrointestinal system smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000543 biolink:NamedThing ovarian melanoma A melanoma (disease) that involves the ovary. tmpte7i6ely_mondo_relaxed.owl ovary metastatic melanoma|melanoma (disease) of ovary|ovary melanoma (disease)|metastatic melanoma of ovary DOID:0050928 owl:Class MONDO:0010984 biolink:NamedThing Usher syndrome type 1D A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl Usher syndrome type 1D|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|Usher syndrome, type 1D|USH1D|Ush1D/F, Cdh23/Pcdh15, digenic|Usher syndrome type ID|USHER syndrome, type ID ICD10:H35.5|GARD:0005438|DOID:0110831|OMIM:601067|Orphanet:886|Orphanet:231169 https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d owl:Class PATO:0000610 biolink:NamedThing open A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010668 biolink:NamedThing skeletal dysplasia-intellectual disability syndrome Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. tmpte7i6ely_mondo_relaxed.owl X-linked skeletal dysplasia-intellectual disability syndrome|Christian syndrome|intellectual disability skeletal dysplasia abducens palsy|intellectual disability, skeletal dysplasia, and abducens palsy|MRSD|mental retardation skeletal dysplasia abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy OMIM:309620|GARD:0003520|Orphanet:1436|ICD10:Q87.5|UMLS:C1839729|MESH:C564101|SCTID:722478008 https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy owl:Class HGNC:11049 biolink:NamedThing SLC6A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010901 biolink:NamedThing HEC syndrome HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. tmpte7i6ely_mondo_relaxed.owl HEC syndrome|hydrocephalus-endocardial fibroelastosis-cataract syndrome|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts|hydrocephalus, endocardial fibroelastosis, and cataracts SCTID:721015008|Orphanet:2119|MESH:C535855|OMIM:600559|ICD10:Q87.8|GARD:0002620|UMLS:C1833607 Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome owl:Class GO:0008238 biolink:NamedThing exopeptidase activity Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both. tmpte7i6ely_mondo_relaxed.owl exoprotease activity owl:Class UBERON:0011135 biolink:NamedThing intervertebral cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017812 biolink:NamedThing segmental progressive overgrowth syndrome with fibroadipose hyperplasia tmpte7i6ely_mondo_relaxed.owl Orphanet:314662|UMLS:CN203781 owl:Class CHEBI:33832 biolink:NamedThing organic cyclic compound Any organic molecule that consists of atoms connected in the form of a ring. tmpte7i6ely_mondo_relaxed.owl organic cyclic compounds owl:Class MONDO:0002527 biolink:NamedThing keratoacanthoma A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin. tmpte7i6ely_mondo_relaxed.owl ICDO:8071/1|NCIT:C3146|UMLS:C0022572|DOID:3149|MESH:D007636|SCTID:254662007 owl:Class NCBITaxon:291484 biolink:NamedThing Hepeviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018264 biolink:NamedThing oculocutaneous albinism type 6 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. tmpte7i6ely_mondo_relaxed.owl skin/hair/eye pigmentation 4, fair/dark skin|albinism, oculocutaneous, type VI|OCA6|skin/hair/eye pigmentation, variation In, 4 SCTID:722058005|UMLS:C3805375|OMIM:113750|DOID:0080614|ICD10:E70.3|Orphanet:370097 owl:Class MONDO:0031200 biolink:NamedThing Bryant-Li-Bhoj neurodevelopmental syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:619720 owl:Class CL:2000079 biolink:NamedThing mesenchymal stem cell of femoral bone marrow Any mesenchymal stem cell of the bone marrow that is part of a femur. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T19:07:31Z cell owl:Class HGNC:3693 biolink:NamedThing FGFRL1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:51291 biolink:NamedThing Chlamydiales tmpte7i6ely_mondo_relaxed.owl chlamydias PMID:25634949|PMID:16079343|PMID:10319462|PMID:10826799|PMID:26179278|GC_ID:11|PMID:11211265 ncbi_taxonomy owl:Class GO:0042589 biolink:NamedThing zymogen granule membrane The lipid bilayer surrounding a zymogen granule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015086 biolink:NamedThing cloverleaf skull-asphyxiating thoracic dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl Benallegue-Lacete syndrome|cloverleaf skull and asphyxiating thoracic dysplasia|Benallegue Lacete syndrome UMLS:CN197384|GARD:0000853|ICD10:Q87.5|Orphanet:100978 https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome owl:Class MONDO:0011047 biolink:NamedThing deafness-epiphyseal dysplasia-short stature syndrome This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). tmpte7i6ely_mondo_relaxed.owl deafness, epiphyseal dysplasia, short stature|chitty-Hall-Baraitser syndrome|deafness, femoral epiphyseal dysplasia, short stature and developmental delay|growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction MESH:C535928|Orphanet:3218|UMLS:C1832438|SCTID:716238003|OMIM:601351|GARD:0001688 owl:Class MONDO:0017962 biolink:NamedThing 46,XX disorder of sex development induced by fetoplacental androgens excess tmpte7i6ely_mondo_relaxed.owl 46,XX DSD induced by fetoplacental androgens excess Orphanet:325061|UMLS:CN227226 owl:Class MONDO:0023246 biolink:NamedThing linear porokeratosis Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. tmpte7i6ely_mondo_relaxed.owl Congenital facial linear porokeratosis (type)|Porokeratosis, Linear|Zosteriform porokeratosis|Linear porokeratosis|Linear Porokeratosis UMLS:C0302319|SCTID:238631008 owl:Class CHEBI:50249 biolink:NamedThing anticoagulant An agent that prevents blood clotting. tmpte7i6ely_mondo_relaxed.owl anticoagulants|anticoagulante owl:Class MONDO:0008164 biolink:NamedThing otosclerosis 1 tmpte7i6ely_mondo_relaxed.owl OTSC1|otosclerosis 1|OTS UMLS:CN032031|OMIM:166800|UMLS:C0029899 owl:Class MONDO:0011685 biolink:NamedThing polysubstance abuse, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSAB|drug addiction, susceptibility to|polysubstance abuse, susceptibility to OMIM:606581 owl:Class MONDO:0001233 biolink:NamedThing orbital tenonitis tmpte7i6ely_mondo_relaxed.owl tenonitis ICD9:376.04|DOID:11233|SCTID:8976003|UMLS:C0155259 owl:Class MONDO:0016705 biolink:NamedThing angiocentric glioma Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. tmpte7i6ely_mondo_relaxed.owl ANGL|Monomorphus angiocentric glioma|angiocentric neuroepithelial tumor|angiocentric glioma (WHO grade I) UMLS:C2363903|Orphanet:251671|ONCOTREE:ANGL|ICD10:C71.9|ICDO:9431/1|NCIT:C92552 owl:Class MONDO:0003589 biolink:NamedThing liposarcoma of the ovary A malignant adipose tissue neoplasm of the ovary. tmpte7i6ely_mondo_relaxed.owl liposarcoma of ovary|ovarian liposarcoma|ovary liposarcoma NCIT:C6419|UMLS:C1335165|DOID:5697 owl:Class MONDO:0016159 biolink:NamedThing Gemignani syndrome tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia-amyotrophy-deafness syndrome|spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness Orphanet:2074|UMLS:C2931587|MESH:C537678|GARD:0002451 https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome owl:Class CHEBI:33748 biolink:NamedThing nickel molecular entity tmpte7i6ely_mondo_relaxed.owl nickel molecular entities|nickel molecular entity|nickel compounds owl:Class MONDO:0025086 biolink:NamedThing hip dysplasia, canine A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. tmpte7i6ely_mondo_relaxed.owl canine hip dysplasia|dysplasia, canine hip MESH:D006619|UMLS:C0019556 owl:Class MONDO:0005599 biolink:NamedThing malignant epithelioid mesothelioma A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity. tmpte7i6ely_mondo_relaxed.owl malignant epithelial mesothelioma|epithelioid mesothelioma|epithelial mesothelioma|epithelioid mesothelioma, malignant (morphologic abnormality)|epithelioid mesothelioma, malignant UMLS:C0862312|NCIT:C7985|EFO:0006452|DOID:4489|ICDO:9052/3 owl:Class MONDO:0009261 biolink:NamedThing GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. tmpte7i6ely_mondo_relaxed.owl gangliosidosis, generalized GM1, type 2|GM1-gangliosidosis, type II|gangliosidosis, generalized GM1, juvenile type|GM1-gangliosidosis, type 2|juvenile GM1 gangliosidosis|late-infantile GM1 gangliosidosis|gangliosidosis generalized GM1 juvenile type|gangliosidosis generalized GM1 type 2|gangliosidosis, generalized GM1, late-infantile type GARD:0010126|Orphanet:354|ICD10:E75.1|Orphanet:79256|OMIM:230600|DOID:0080501|SCTID:18756002 https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2 owl:Class HGNC:317 biolink:NamedThing AFP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006426 biolink:NamedThing spinal cord primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord. tmpte7i6ely_mondo_relaxed.owl primitive neuroectodermal tumor of spinal cord|primitive neuroectodermal neoplasm of spinal cord|primitive neuroectodermal neoplasm of the spinal cord|spinal cord primitive neuroectodermal tumor|primitive neuroectodermal tumor of the spinal cord|spinal cord PNET|spinal cord primitive neuroectodermal neoplasm EFO:1000545|DOID:6872|NCIT:C5406|UMLS:C1336048 owl:Class MONDO:0004237 biolink:NamedThing large cell carcinoma with rhabdoid phenotype A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells. tmpte7i6ely_mondo_relaxed.owl large cell lung carcinoma with rhabdoid phenotype|large cell carcinoma with rhabdoid phenotype (morphologic abnormality)|RLCLC ICDO:8014/3|DOID:7480|ONCOTREE:RLCLC|NCIT:C6876|UMLS:C1265997 owl:Class CHEBI:35523 biolink:NamedThing bronchodilator agent An agent that causes an increase in the expansion of a bronchus or bronchial tubes. tmpte7i6ely_mondo_relaxed.owl bronchodilator|bronchodilator agents|broncholytic agent owl:Class MONDO:0014574 biolink:NamedThing peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome tmpte7i6ely_mondo_relaxed.owl peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads|plack|plack syndrome|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome UMLS:C4225381|ICD10:Q82.8|Orphanet:444138|OMIM:616295 owl:Class HGNC:3619 biolink:NamedThing FCGR3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002239 biolink:NamedThing post-surgical hypoinsulinemia tmpte7i6ely_mondo_relaxed.owl postsurgical hypoinsulinemia DOID:2181|SCTID:190437000|ICD9:251.3|ICD10:E89.1|UMLS:C0154190 owl:Class UBERON:0011379 biolink:NamedThing male external urethral sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006166 biolink:NamedThing columnar cell hyperplasia of the breast A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini. tmpte7i6ely_mondo_relaxed.owl columnar cell hyperplasia of breast|CCH NCIT:C54183|EFO:1000199|UMLS:C1707446 owl:Class MONDO:0012995 biolink:NamedThing myopia 15, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MYP15|myopia 15, autosomal dominant OMIM:612717|MESH:C567193|UMLS:C2675180 owl:Class MONDO:0013375 biolink:NamedThing Klippel-Feil syndrome 3, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene. tmpte7i6ely_mondo_relaxed.owl Klippel-Feil syndrome 3, autosomal dominant|Klippel-FEIL syndrome 3, autosomal dominant|KFS3|isolated Klippel-Feil syndrome caused by mutation in GDF3|GDF3 isolated Klippel-Feil syndrome Orphanet:2345|OMIM:613702|UMLS:C3150967|DOID:0080591 owl:Class MONDO:0019884 biolink:NamedThing distal trisomy 10q Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. tmpte7i6ely_mondo_relaxed.owl distal trisomy type 10q|trisomy 10qter|telomeric duplication 10q|distal duplication 10q Orphanet:96102|MESH:C538087|SCTID:718689000|ICD10:Q92.3 owl:Class MONDO:0004547 biolink:NamedThing reticular pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. tmpte7i6ely_mondo_relaxed.owl testicular yolk Sac tumor, reticular pattern|testicular yolk Sac tumor, microcystic pattern NCIT:C39923|DOID:8392|UMLS:C1515308 owl:Class GO:1901701 biolink:NamedThing cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpte7i6ely_mondo_relaxed.owl cellular response to oxygen molecular entity owl:Class MONDO:0004165 biolink:NamedThing selective IgD deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. tmpte7i6ely_mondo_relaxed.owl selective IgD immunodeficiency|selective immunoglobulin D deficiency SCTID:234541006|DOID:7263|UMLS:C0398695|ICD9:279.03|NCIT:C27144 owl:Class MONDO:0060783 biolink:NamedThing classic congenital adrenal hyperplasia A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. tmpte7i6ely_mondo_relaxed.owl classic congenital adrenal hyperplasia|classic CAH NCIT:C131423|UMLS:C4329672 owl:Class MONDO:0100111 biolink:NamedThing focal segmental glomerulosclerosis and neurodevelopmental syndrome A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed. tmpte7i6ely_mondo_relaxed.owl FSGSNEDS OMIM:619428 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3530 owl:Class MONDO:0022642 biolink:NamedThing childhood carcinoid tumor A rare carcinoid tumor that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl carcinoid tumor childhood|carcinoid tumor (disease) of childhood|pediatric carcinoid tumor (disease)|childhood carcinoid tumor (disease)|childhood carcinoid tumor UMLS:C3899673|GARD:0009315|NCIT:C118810 https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood owl:Class UBERON:0001076 biolink:NamedThing neural spine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001568 biolink:NamedThing mixed receptive-expressive language disorder A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). tmpte7i6ely_mondo_relaxed.owl ICD10:F80.2|NCIT:C92563|DOID:12685|ICD9:315.32|SCTID:25766007 owl:Class MONDO:0016097 biolink:NamedThing symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. tmpte7i6ely_mondo_relaxed.owl Orphanet:206546|SCTID:765197008|UMLS:CN200864|ICD10:G71.0 owl:Class MONDO:0044619 biolink:NamedThing propylthiouracil embryofetopathy Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). tmpte7i6ely_mondo_relaxed.owl PTU embryopathy|propylthiouracil embryopathy|PTU embryofetopathy Orphanet:485358 owl:Class HGNC:3260 biolink:NamedThing EIF2B4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022862 biolink:NamedThing cormier rustin munnich syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001523 https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome owl:Class MONDO:0024883 biolink:NamedThing metastatic neoplasm A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology. tmpte7i6ely_mondo_relaxed.owl metastatic neoplasm|metastatic tumor|metastatic disease ICDO:8000/6|NCIT:C3261 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0023020 biolink:NamedThing dwarfism deafness retinitis pigmentosa tmpte7i6ely_mondo_relaxed.owl GARD:0001985 https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa owl:Class MONDO:0044083 biolink:NamedThing alternariosis Opportunistic fungal infection by a member of Alternaria genus. tmpte7i6ely_mondo_relaxed.owl subcutaneous Alternariosis|Alternarioses, cutaneous|dermal Alternarioses|Alternarioses|Alternarioses, subcutaneous|cutaneous alternariosis|Alternarioses, dermal|Alternariosis, subcutaneous|Alternariosis, dermal|subcutaneous Alternarioses|Alternariosis, cutaneous|cutaneous Alternariosis|cutaneous Alternarioses|dermal Alternariosis MESH:D060487|SCTID:238436005|EFO:1001893 owl:Class OBO:CHR_9606-chr20q13 biolink:NamedThing 20q13 (Human) tmpte7i6ely_mondo_relaxed.owl 64444167 43100000 hg38 owl:Class MONDO:0019931 biolink:NamedThing Leydig cell hypoplasia due to partial LH resistance tmpte7i6ely_mondo_relaxed.owl Leydig cell hypoplasia due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial LH receptor inactivation|46,XY DSD due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation|46,XY DSD due to partial LH resistance|46,XY disorder of sex developement due to partial LH resistance|46,XY DSD due to partial luteinizing hormone resistance OMIM:238320|Orphanet:96266|ICD10:Q56.1|UMLS:CN206848 owl:Class MONDO:0001761 biolink:NamedThing favism A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. tmpte7i6ely_mondo_relaxed.owl NCIT:C34607|SCTID:191172001|UMLS:C0015702|MESH:D005236|DOID:13628|ICD10:D55.0 owl:Class HGNC:2312 biolink:NamedThing CPN1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071326 biolink:NamedThing cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0071322 biolink:NamedThing cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002465 biolink:NamedThing CD11b-positive dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-11-23T01:50:05Z cell owl:Class NCBITaxon:27841 biolink:NamedThing Echinostomata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004851 biolink:NamedThing toxic myocarditis tmpte7i6ely_mondo_relaxed.owl DOID:9694|UMLS:C0155691|ICD9:422.93|SCTID:31993003 owl:Class CHEBI:38182 biolink:NamedThing monohydroxypyridine A hydroxypyridine carrying a single hydroxy substituent. tmpte7i6ely_mondo_relaxed.owl monohydroxypyridines owl:Class MONDO:0010475 biolink:NamedThing X-linked central congenital hypothyroidism with late-onset testicular enlargement An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. tmpte7i6ely_mondo_relaxed.owl X-linked central congenital hypothyroidism with late-onset macroorchidism|Immunoglobulin superfamily member 1 deficiency syndrome|X-linked central congenital hypothyroidism with late-onset testicular enlargement|central hypothyroidism and testicular enlargement|hypothyroidism, central, and testicular enlargement|CHTE|hypothyroidism Central and testicular enlargement|IGSF1 deficiency syndrome OMIM:300888|UMLS:C3550963|DOID:0111140|Orphanet:329235|NCIT:C130989|ICD10:E03.1 owl:Class MONDO:0016410 biolink:NamedThing central congenital hypothyroidism Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. tmpte7i6ely_mondo_relaxed.owl hypothalamic-pituitary hypothyroidism|thyrotropin deficiency|central hypothyroidism|thyroid stimulating hormone deficiency|TSH deficiency|secondary hypothyroidism ICD10:E03.1|NCIT:C113144|Orphanet:226298|GARD:0012280 https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism owl:Class CHEBI:35498 biolink:NamedThing diuretic An agent that promotes the excretion of urine through its effects on kidney function. tmpte7i6ely_mondo_relaxed.owl diuretics owl:Class MONDO:0016414 biolink:NamedThing hypotrichosis-intellectual disability, Lopes type Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Lopes-Marques de Faria syndrome Orphanet:2266|UMLS:CN201347 owl:Class HGNC:8854 biolink:NamedThing PEX12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006366 biolink:NamedThing Peutz-Jeghers polyp of the stomach A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium. tmpte7i6ely_mondo_relaxed.owl Gastric Peutz-Jeghers polyp UMLS:C1335398|NCIT:C36205|EFO:1000471 owl:Class GO:0060125 biolink:NamedThing negative regulation of growth hormone secretion Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024264 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 2 A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. tmpte7i6ely_mondo_relaxed.owl hypothyroidism, congenital, due to thyroid dysgenesis|thyroid, ectopic|thyroid dysgenesis|hypothyroidism, athyreotic|hypothyroidism, congenital, nongoitrous, 2|congenital nongoitrous hypothryoidism 2|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|congenital nongoitrous hypothyroidism 2|athyreotic hypothyroidism|thyroid hypoplasia|resistance to thyrotropin|thyroid agenesis|thyrotropin resistance|CHNG2 ICD10:E03.1|Orphanet:95712|Orphanet:95719|DOID:0070124|Orphanet:95720|OMIM:218700|Orphanet:95713 owl:Class MONDO:0015303 biolink:NamedThing macular amyloidosis Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. tmpte7i6ely_mondo_relaxed.owl UMLS:C0544839|ICD10:E85.4+|ICD10:L99.0*|Orphanet:137814 owl:Class MONDO:0017288 biolink:NamedThing DICER1 syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. tmpte7i6ely_mondo_relaxed.owl pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|DICER1 syndrome|PPB familial tumor susceptibility syndrome|PPBFTDS|pleuropulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma OMIM:601200|Orphanet:284343|UMLS:CN240512|GARD:0010734|EFO:0009068|ICD9:199.1|UMLS:C3839822|NCIT:C123317|SCTID:702411003|UMLS:CN202862 https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome owl:Class MONDO:0022949 biolink:NamedThing defective apolipoprotein b-100 tmpte7i6ely_mondo_relaxed.owl GARD:0001720 https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100 owl:Class GO:0015291 biolink:NamedThing secondary active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. tmpte7i6ely_mondo_relaxed.owl multidrug endosomal transmembrane transporter activity|active transporter|energizer of outer membrane receptor-mediated transport activity|heavy metal ion porter activity|coupled carrier|secondary carrier-type facilitators|nitrite/nitrate porter activity|porters|electrochemical potential-driven transporter activity|ion-gradient-driven energizer activity|porter activity|galactose/glucose (methylgalactoside) porter activity owl:Class HGNC:15511 biolink:NamedThing VANGL2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8300002 biolink:NamedThing left forelimb tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070640 biolink:NamedThing vitamin D3 metabolic process The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol. tmpte7i6ely_mondo_relaxed.owl vitamin D3 metabolism|cholecalciferol metabolic process|calciol metabolic process owl:Class MONDO:0011291 biolink:NamedThing congenital disorder of glycosylation type 1C A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3). tmpte7i6ely_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type Ic|CDG1C|ALG6 congenital disorder of glycosylation|CDG-Ic|ALG6-CDG|ALG6-CDG (CDG-Ic)|congenital disorder of glycosylation caused by mutation in ALG6|carbohydrate-deficient glycoprotein syndrome, type V, formerly|congenital disorder of glycosylation type Ic|glucosyltransferase 1 deficiency|congenital disorder of glycosylation, type Ic|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide|carbohydrate-deficient glycoprotein syndrome, type V (formerly)|CDGS5 (formerly)|congenital disorder of glycosylation type 1C|CDGIc|congenital disorder of glycosylation type 1c|CDG syndrome type Ic|carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)|carbohydrate-deficient glycoprotein syndrome, type V|CDG Ic|carbohydrate-deficient glycoprotein syndrome type 1C|CDG 1C|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly OMIM:603147|GARD:0009829|NCIT:C126869|UMLS:C2930997|ICD10:E77.8|DOID:0080555|SCTID:709412006|Orphanet:79320|MESH:C535741 owl:Class MONDO:0004964 biolink:NamedThing peripheral T-cell lymphoma, not otherwise specified Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant. tmpte7i6ely_mondo_relaxed.owl PTCL EFO:0000211|NCIT:C4340|ONCOTREE:PTCL owl:Class MONDO:0006423 biolink:NamedThing soft tissue chondroma A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. tmpte7i6ely_mondo_relaxed.owl chondroma of soft parts|extraskeletal chondroma|soft tissue chondroma|extraskeletal osteochondroma UMLS:C1275277|NCIT:C9482|DOID:3814|EFO:1000540|SCTID:404078000 MONDO:0002780 owl:Class GO:0048640 biolink:NamedThing negative regulation of developmental growth Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth. tmpte7i6ely_mondo_relaxed.owl down regulation of developmental growth|downregulation of developmental growth|inhibition of developmental growth|down-regulation of developmental growth owl:Class MONDO:0044301 biolink:NamedThing aortic aneurysm, familial thoracic 11, susceptibility to tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial thoracic 11, susceptibility to|AAT11 OMIM:617349 owl:Class GO:0004683 biolink:NamedThing calmodulin-dependent protein kinase activity Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. tmpte7i6ely_mondo_relaxed.owl CaM-regulated serine/threonine kinase activity|CaM kinase II activity|ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity|caldesmon kinase (phosphorylating) activity|CaMKII|ATP:caldesmon O-phosphotransferase activity|Ca2+/calmodulin-dependent protein kinase activity|calmodulin regulated protein kinase activity|calcium- and calmodulin-dependent protein kinase activity|Ca2+/CaM-dependent kinase activity|Ca2+/calmodulin-dependent protein kinase kinase activity|CaMKKalpha|Ca2+/calmodulin-dependent protein kinase 1 activity|Ca2+/calmodulin-dependent protein kinase II activity|CAM PKII|STK20|multifunctional calcium/calmodulin regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase IV activity|calmodulin-dependent kinase II activity|multifunctional calcium- and calmodulin-regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase kinase beta activity|Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity|CaMKKbeta|calcium/calmodulin-dependent protein kinase type II activity|microtubule-associated protein 2 kinase activity|calmodulin-dependent protein kinase I activity|CaMKI|CaM kinase activity|calcium/calmodulin-dependent protein kinase activity|CaMKIV owl:Class MONDO:0019862 biolink:NamedThing levocardia A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation. tmpte7i6ely_mondo_relaxed.owl Situs inversus with levocardia|levocardia-situs inversus|Isolated levocardia with situs inversus MESH:D007979|NCIT:C111647|Orphanet:95854|GARD:0012032|SCTID:205769006|ICD10:Q24.1|MedDRA:10071015|UMLS:C0023569 owl:Class MONDO:0019204 biolink:NamedThing respiratory bronchiolitis-interstitial lung disease syndrome Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. tmpte7i6ely_mondo_relaxed.owl RB-ILD ICD10:J68.4|UMLS:CN205794|MedDRA:10066393|Orphanet:79127 owl:Class MONDO:0007058 biolink:NamedThing acropectorovertebral dysplasia Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). tmpte7i6ely_mondo_relaxed.owl ACRPV|F syndrome|acropectorovertebral dysplasia|acropectorovertebral dysplasia F form MESH:C566319|OMIM:102510|Orphanet:957|UMLS:C1863307|SCTID:720457000|ICD10:Q74.8|GARD:0000512 https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form owl:Class MONDO:0006307 biolink:NamedThing mixed somatotroph-lactotroph pituitary gland adenoma An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. tmpte7i6ely_mondo_relaxed.owl mixed GH-PRL cell adenoma|mixed somatotroph-lactotroph pituitary gland adenoma|mixed somatotroph-lactotroph adenoma|Mixed somatotroph and lactotroph adenoma|mixed Somatolactotrope adenoma UMLS:C1709052|NCIT:C45927|EFO:1000383 owl:Class HGNC:20323 biolink:NamedThing SMOC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017081 biolink:NamedThing parietal encephalocele tmpte7i6ely_mondo_relaxed.owl Orphanet:268826|ICD10:Q01.8|SCTID:253109005 owl:Class HGNC:29331 biolink:NamedThing EPG5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009906 biolink:NamedThing prenatal bowing tmpte7i6ely_mondo_relaxed.owl prenatal bowing OMIM:264050|MESH:C564873|Orphanet:2292 owl:Class UBERON:0004216 biolink:NamedThing lower arm nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001366 biolink:NamedThing splenic sequestration tmpte7i6ely_mondo_relaxed.owl DOID:11786|ICD9:289.52 Editor note: TODO consider cede to HPO owl:Class SO:0001524 biolink:NamedThing chromosomally_aberrant_genome When a genome contains an abnormal amount of chromosomes. tmpte7i6ely_mondo_relaxed.owl chromosomally aberrant genome owl:Class SO:0001506 biolink:NamedThing variant_genome A collection of sequences (often chromosomes) of an individual. tmpte7i6ely_mondo_relaxed.owl variant genome owl:Class NCBITaxon:103829 biolink:NamedThing Thelazioidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0006685 biolink:NamedThing Endocardial fibrosis The presence of excessive connective tissue in the endocardium. tmpte7i6ely_mondo_relaxed.owl Endomyocardial fibrosis MSH:D004719|SNOMEDCT_US:398716006|UMLS:C0553980 HP:0005169 human_phenotype owl:Class HP:0004306 biolink:NamedThing Abnormal endocardium morphology An abnormality of the endocardium. tmpte7i6ely_mondo_relaxed.owl Abnormality of the endocardium|Abnormality of the endomycoardium UMLS:C4021662 peter 2008-02-20T01:23:00Z HP:0005260 human_phenotype owl:Class MONDO:0019865 biolink:NamedThing mosaic trisomy 4 Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy type 4|trisomy 4 mosaicism|Mosaic trisomy chromosome 4 SCTID:764628000|ICD10:Q92.1|Orphanet:96059 owl:Class MONDO:0003133 biolink:NamedThing exudative glomerulonephritis Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. tmpte7i6ely_mondo_relaxed.owl UMLS:C0546345|NCIT:C35706|DOID:4777 owl:Class MONDO:0013944 biolink:NamedThing autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation tmpte7i6ely_mondo_relaxed.owl AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated|APLAID Orphanet:324530|UMLS:C3553961|OMIM:614878 owl:Class MONDO:0001392 biolink:NamedThing monocular exotropia tmpte7i6ely_mondo_relaxed.owl UMLS:C0152206|ICD9:378.11|SCTID:5725006|DOID:11853|ICD10:H50.11|MESH:D005099 owl:Class MONDO:0001286 biolink:NamedThing exotropia A form of strabismus in which the eyes are deviated laterally. tmpte7i6ely_mondo_relaxed.owl divergent concomitant strabismus|divergent strabismus UMLS:C0015310|ICD9:378.10|ICD10:H50.10|MESH:D005099|SCTID:399252000|DOID:1143|ICD10:H50.1|ICD9:378.1|NCIT:C34601 owl:Class HP:0000071 biolink:NamedThing Ureteral stenosis The presence of a stenotic, i.e., constricted ureter. tmpte7i6ely_mondo_relaxed.owl Narrowing of the ureter UMLS:C0521618|SNOMEDCT_US:95574003 human_phenotype owl:Class HP:0006000 biolink:NamedThing Ureteral obstruction Obstruction of the flow of urine through the ureter. tmpte7i6ely_mondo_relaxed.owl Fyler:4492|SNOMEDCT_US:20018005|UMLS:C0041956|MSH:D014517 human_phenotype owl:Class MONDO:0017486 biolink:NamedThing radial hemimelia, unilateral tmpte7i6ely_mondo_relaxed.owl radial longitidinal meromelia, unilateral ICD10:Q71.4|Orphanet:295069 owl:Class MONDO:0004057 biolink:NamedThing micropapillary variant infiltrating bladder urothelial carcinoma An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003 tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, micropapillary variant DOID:6976|NCIT:C27202|UMLS:C1517579|EFO:0008512 owl:Class UBERON:0001267 biolink:NamedThing femoral nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013548 biolink:NamedThing acetyl-CoA acetyltransferase-2 deficiency tmpte7i6ely_mondo_relaxed.owl acetyl-CoA acetyltransferase-2 deficiency|ACETYL-CoA acetyltransferase-2 deficiency|ACAT2D|Acat2 deficiency|Acetyl CoA acetyltransferase 2 deficiency|Acetocoenzyme A acetyltransferase 2|acetoacetyl CoA thiolase, cytosolic|ACAT2 UMLS:C0342735|OMIM:614055|GARD:0009154|MESH:C536005 https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency owl:Class MONDO:0000811 biolink:NamedThing anomalous left coronary artery from the pulmonary artery A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life. tmpte7i6ely_mondo_relaxed.owl BWGS|ALCAPA disorder|White-Garland syndrome|ALCAPA|Bland-White-Garland syndrome UMLS:C1735886|MESH:D063748|DOID:0060562 owl:Class MONDO:0004319 biolink:NamedThing hypercalcemic type ovarian small cell carcinoma An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers. tmpte7i6ely_mondo_relaxed.owl ovarian small cell carcinoma, hypercalcemic type|SCCOHT DOID:7651|UMLS:C1518736|NCIT:C40439 owl:Class MONDO:0003795 biolink:NamedThing ovarian small cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. tmpte7i6ely_mondo_relaxed.owl ovarian small cell carcinoma|ovarian small cell cancer|small cell carcinoma of ovary|SCCO|small cell carcinoma of the ovary|ovarian small cell NEC|ovarian small cell neuroendocrine carcinoma|small cell ovarian carcinoma|ovary small cell carcinoma ONCOTREE:SCCO|DOID:6179|EFO:1000431|NCIT:C27390|GARD:0010411|Orphanet:370396|ICD10:C56|UMLS:C2212006 owl:Class MONDO:0001559 biolink:NamedThing perineocele tmpte7i6ely_mondo_relaxed.owl DOID:12637|ICD9:618.05|ICD10:N81.81 owl:Class GO:0035227 biolink:NamedThing regulation of glutamate-cysteine ligase activity Any process that modulates the activity of glutamate-cysteine ligase. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012481 biolink:NamedThing cloacal epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007665 biolink:NamedThing glaucoma 1, open angle, E A form of glaucoma in which there is no visible abnormality in the trabecular meshwork. tmpte7i6ely_mondo_relaxed.owl chronic simple glaucoma|glaucoma, primary open angle, adult-onset|glaucoma 1, open angle, E MESH:C562750|ICD10:H40.11|NCIT:C35394|ICD10:H40.1|DOID:1070|SCTID:77075001|ICD9:365.11|OMIM:137760 https://github.com/monarch-initiative/mondo/issues/2507 owl:Class MONDO:0012184 biolink:NamedThing Pierson syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. tmpte7i6ely_mondo_relaxed.owl microcoria - congenital nephrotic syndrome|microcoria - congenital nephrosis|Pierson syndrome|microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome DOID:0060852|GARD:0009420|SCTID:723449004|ICD10:N04.8|OMIM:609049|GARD:0003945|MESH:C537185|Orphanet:2670|NCIT:C128145|UMLS:C1836876 https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome owl:Class MPATH:1000 biolink:NamedThing pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006232 biolink:NamedThing facio-acoustic VII-VIII preganglion complex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010487 biolink:NamedThing intellectual disability, X-linked 99 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene. tmpte7i6ely_mondo_relaxed.owl MRX99|mental retardation, X-linked 99|intellectual disability, X-linked 99|intellectual disability, X-linked type 99|non-syndromic X-linked intellectual disability caused by mutation in USP9X|USP9X non-syndromic X-linked intellectual disability|mental retardation, X-linked type 99 OMIM:300919|UMLS:C3806746 owl:Class MONDO:0006632 biolink:NamedThing osteoarthritis, hand Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children). tmpte7i6ely_mondo_relaxed.owl EFO:1000789 owl:Class ECTO:4000029 biolink:NamedThing exposure to increased soil temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil. tmpte7i6ely_mondo_relaxed.owl exposure to increased amount in temperature of soil owl:Class MONDO:0030872 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 8 tmpte7i6ely_mondo_relaxed.owl FTDALS8|frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM:619132 owl:Class MONDO:0005689 biolink:NamedThing cannabis dependence Physical and psychological dependence on the drug cannabis. tmpte7i6ely_mondo_relaxed.owl marijuana abuse|cannabis abuse|marijuana dependence ICD9:304.3|EFO:0007191|NCIT:C34445|MESH:D002189|ICD9:305.2|DOID:9505|DOID:1849|ICD10:F12.2|SCTID:37344009|SCTID:85005007|ICD10:F12|ICD9:304.30|ICD10:F12.1 owl:Class MONDO:0001930 biolink:NamedThing acute cholangitis Cholangitis that is both sudden in onset and of a relatively short duration. tmpte7i6ely_mondo_relaxed.owl cholangitis, acute|acute cholangitis DOID:14271|UMLS:C0267917|SCTID:6215006|NCIT:C35334 owl:Class MONDO:0016995 biolink:NamedThing familial multiple meningioma Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. tmpte7i6ely_mondo_relaxed.owl Orphanet:263662|ICD10:D32.9|OMIM:607174|UMLS:CN202309 owl:Class MONDO:0013478 biolink:NamedThing PLIN1-related familial partial lipodystrophy tmpte7i6ely_mondo_relaxed.owl familial partial lipodystrophy associated with PLIN1 mutations|lipodystrophy, familial partial, type 4|FPLD4|lipodystrophy, familial partial, associated with Plin1 mutations|PLIN1-related FPLD|FPLD due to PLIN1 mutations|familial partial lipodystrophy type 4 Orphanet:280356|DOID:0070205|GARD:0012601|ICD10:E88.1|UMLS:C3151268|OMIM:613877 owl:Class MONDO:0024473 biolink:NamedThing Astrakhan spotted fever An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia. tmpte7i6ely_mondo_relaxed.owl DOID:0050041 owl:Class MONDO:0002851 biolink:NamedThing mediastinum rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinal rhabdomyosarcoma|mediastinum rhabdomyosarcoma (disease)|rhabdomyosarcoma of the mediastinum|rhabdomyosarcoma of mediastinum|rhabdomyosarcoma (disease) of mediastinum DOID:4049|UMLS:C1334677|NCIT:C6617 owl:Class UBERON:0012252 biolink:NamedThing endocervical epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1901565 biolink:NamedThing organonitrogen compound catabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. tmpte7i6ely_mondo_relaxed.owl organonitrogen compound degradation|organonitrogen compound breakdown|organonitrogen compound catabolism owl:Class MONDO:0044777 biolink:NamedThing premature ovarian failure 14 tmpte7i6ely_mondo_relaxed.owl POF14|premature ovarian failure 14|GDF9-related primary ovarian insufficiency UMLS:CN757793|OMIM:618014|GTR:AN1172965|UMLS:CN753759 owl:Class MONDO:0030868 biolink:NamedThing spermatogenic failure 49 tmpte7i6ely_mondo_relaxed.owl SPGF49|spermatogenic failure 49 OMIM:619144 owl:Class CL:0002454 biolink:NamedThing Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive. tmpte7i6ely_mondo_relaxed.owl spleen double-negative dendritic cell|DC.8-4-11b+ tmeehan 2010-11-22T01:10:28Z cell owl:Class MONDO:0001733 biolink:NamedThing occlusion of tributary of retinal vein tmpte7i6ely_mondo_relaxed.owl venous tributary (branch) occlusion of retina|venous tributary occlusion of retina|venous tributary branch occlusion of retina DOID:13514|ICD9:362.36 owl:Class GO:0043565 biolink:NamedThing sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. tmpte7i6ely_mondo_relaxed.owl sequence specific DNA binding owl:Class MONDO:0014729 biolink:NamedThing hereditary spastic paraplegia 75 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 75, autosomal recessive|hereditary spastic paraplegia type 75|MAG hereditary spastic paraplegia|autosomal recessive spastic paraplegia 75|hereditary spastic paraplegia caused by mutation in MAG|autosomal recessive spastic paraplegia type 75|SPG75 OMIM:616680|DOID:0110820|ICD10:G11.4|Orphanet:459056|EFO:0009018|UMLS:C4225250 owl:Class NCIT:C36843 biolink:NamedThing Abnormal Connective and Soft Tissue Cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023250 biolink:NamedThing global disaccharide intolerance tmpte7i6ely_mondo_relaxed.owl GARD:0008386 https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance owl:Class MONDO:0006309 biolink:NamedThing mucinous gastric adenocarcinoma A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. tmpte7i6ely_mondo_relaxed.owl mucinous gastric adenocarcinoma|mucinous adenocarcinoma of stomach|mucinous adenocarcinoma of the stomach|mucinous stomach adenocarcinoma|stomach mucinous adenocarcinoma|MSTAD UMLS:C1334809|EFO:1000386|NCIT:C5248|DOID:3716|ONCOTREE:MSTAD owl:Class HP:0012444 biolink:NamedThing Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. tmpte7i6ely_mondo_relaxed.owl Brain degeneration|Brain wasting SNOMEDCT_US:52522001|SNOMEDCT_US:278849000|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:418143002 peter 2013-11-23T02:46:15Z human_phenotype owl:Class MONDO:0037738 biolink:NamedThing cauda equina cancer A cancer that involves the cauda equina. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of cauda equina|cancer of cauda equina|malignant cauda equina neoplasm UMLS:C0349017|SCTID:363477002 owl:Class MONDO:0012146 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 3 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene. tmpte7i6ely_mondo_relaxed.owl Hplh3|hemophagocytic lymphohistiocytosis, familial, 3|Hlh3|hemophagocytic lymphohistiocytosis, familial, type 3|UNC13D genetic hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D|HLH3|HPLH3|familial hemophagocytic lymphohistiocytosis type 3|FHL3 Orphanet:540|MESH:C537251|GARD:0009928|OMIM:608898|DOID:0110923 https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3 owl:Class MONDO:0006637 biolink:NamedThing acute kidney tubular necrosis Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. tmpte7i6ely_mondo_relaxed.owl acute renal failure with tubular necrosis|acute tubular necrosis|acute renal failure with lesion of tubular necrosis|ATN - acute tubular necrosis|acute tubule necrosis EFO:1000794|MESH:D007683|MedDRA:10023441|UMLS:C0022672|ICD9:584.5|SCTID:35455006|ICD10:N17.0|DOID:12556|NCIT:C34749|HP:0008682 owl:Class MONDO:0022978 biolink:NamedThing diaphragmatic hernia upper limb defects tmpte7i6ely_mondo_relaxed.owl GARD:0001847 https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects owl:Class MONDO:0017659 biolink:NamedThing sporadic hyperekplexia tmpte7i6ely_mondo_relaxed.owl ICD10:G25.8|Orphanet:306776 owl:Class MONDO:0032567 biolink:NamedThing isolated growth hormone deficiency, type 4 tmpte7i6ely_mondo_relaxed.owl Dwarfism of Sindh|IGHD4|Isolated Growth Hormone Deficiency, Type Ib, Formerly|Isolated Growth Hormone Deficiency, Type Ib|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV OMIM:618157 owl:Class MONDO:0002226 biolink:NamedThing tuberculous oophoritis An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary. tmpte7i6ely_mondo_relaxed.owl ICD10:A18.17|DOID:2148|ICD9:016.6|UMLS:C0275932|SCTID:84194006|ICD9:016.60 owl:Class MONDO:0019370 biolink:NamedThing vulvovaginal gingival syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:83453|UMLS:C3873472|UMLS:CN206058|ICD10:L43.8|SCTID:707250009 owl:Class MONDO:0033010 biolink:NamedThing erythrokeratodermia variabilis et progressiva 1 tmpte7i6ely_mondo_relaxed.owl erythrokeratodermia Figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|EKVP1|erythrokeratodermia variabilis|keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis ET progressiva 1|erythrokeratodermia variabilis with erythema Gyratum Repens|Greither disease|erythrokeratodermia variabilis Et progressiva DOID:0111195|Orphanet:316|UMLS:C0265961|OMIM:133200|Orphanet:317|Orphanet:495 owl:Class MONDO:0009344 biolink:NamedThing Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease with hypoplastic nails and dysmorphic facial features|Al-Gazali-Donnai-Mueller syndrome|Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features|Al Gazali-Donnai-Muller syndrome OMIM:235760|ICD10:Q43.1|SCTID:721223002|GARD:0000584|MESH:C535615|Orphanet:2153 owl:Class MONDO:0011683 biolink:NamedThing oculocutaneous albinism type 4 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. tmpte7i6ely_mondo_relaxed.owl SLC45A2 oculocutaneous albinism|oculocutaneous albinism caused by mutation in SLC45A2|albinism, oculocutaneous, type 4|oculocutaneous albinism type IV|albinism, oculocutaneous, type IV|OCA4|oculocutaneous albinism, type 4 SCTID:715632003|MESH:C564696|DOID:0070098|OMIM:606574|Orphanet:79435|ICD10:E70.3|UMLS:C1847836 owl:Class MONDO:0007046 biolink:NamedThing hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. tmpte7i6ely_mondo_relaxed.owl acrokeratoderma, hereditary papulotranslucent DOID:0060360|EFO:1000708|MESH:C566323|OMIM:101840|UMLS:C1863343 owl:Class GO:0004509 biolink:NamedThing steroid 21-monooxygenase activity Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O. tmpte7i6ely_mondo_relaxed.owl cytochrome P450 CYP21A1|cytochrome p450 XXIA1 activity|steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating)|21-hydroxylase activity|steroid 21-hydroxylase activity owl:Class MONDO:0032812 biolink:NamedThing developmental and epileptic encephalopathy, 78 tmpte7i6ely_mondo_relaxed.owl EIEE78|epileptic encephalopathy, early infantile, 78|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78|DEE78 OMIM:618557 owl:Class MONDO:0004881 biolink:NamedThing myositis fibrosa A form of myositis that is characterized by the formation of connective tissue within the muscle. tmpte7i6ely_mondo_relaxed.owl interstitial myositis SCTID:55925001|NCIT:C26985|DOID:9788|ICD10:M60.1|ICD9:728.81|UMLS:C0158362 owl:Class ECTO:4000030 biolink:NamedThing exposure to decreased soil temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil. tmpte7i6ely_mondo_relaxed.owl exposure to decreased amount in temperature of soil owl:Class HP:0010762 biolink:NamedThing Chordoma A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. tmpte7i6ely_mondo_relaxed.owl NCIT:C2947|SNOMEDCT_US:50007008|UMLS:C0008487|MSH:D002817 The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. peter 2010-06-25T09:00:39Z human_phenotype owl:Class HP:0010622 biolink:NamedThing Neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton. tmpte7i6ely_mondo_relaxed.owl Bone neoplasm|Skeletal tumour|Skeletal tumor|Neoplasia of the skeletal system SNOMEDCT_US:442868003|NCIT:C3262|UMLS:C4020771|UMLS:C2732838 peter 2010-06-25T08:54:46Z human_phenotype owl:Class HGNC:4076 biolink:NamedThing GABRA2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0062125 biolink:NamedThing regulation of mitochondrial gene expression Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032564 biolink:NamedThing hennekam lymphangiectasia-lymphedema syndrome 3 tmpte7i6ely_mondo_relaxed.owl HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3|HKLLS3 OMIM:618154 owl:Class GO:0070069 biolink:NamedThing cytochrome complex A protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004813 biolink:NamedThing tuberculous pneumothorax A pneumothorax in which air enters into the pleural cavity. tmpte7i6ely_mondo_relaxed.owl ICD9:011.76|ICD10:A15.0|DOID:9534|ICD9:011.7|ICD9:011.72|SCTID:29731002|ICD9:011.73|ICD9:011.71|ICD9:011.70|UMLS:C0152600 owl:Class HGNC:6685 biolink:NamedThing LRAT tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002463 biolink:NamedThing Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. tmpte7i6ely_mondo_relaxed.owl Language impairment|Language disorder MSH:D007806|SNOMEDCT_US:62305002|UMLS:C0023015 human_phenotype owl:Class SO:0000733 biolink:NamedThing feature_attribute An attribute describing a located_sequence_feature. tmpte7i6ely_mondo_relaxed.owl feature attribute owl:Class MONDO:0005414 biolink:NamedThing treatment-refractory schizophrenia Schizophrenia which does not respond to commonly used treatments. tmpte7i6ely_mondo_relaxed.owl refractory schizophrenia|treatment-refractory schizophrenia|TRS EFO:0004609 owl:Class MONDO:0012753 biolink:NamedThing amyotrophic lateral sclerosis type 9 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in ANG|ALS9|amyotrophic lateral sclerosis type 9|ANG amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 9 Orphanet:803|UMLS:C2678468|DOID:0060200|GARD:0010498|OMIM:611895|MESH:C567499 https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9 owl:Class HGNC:20406 biolink:NamedThing KRT6C tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2410 biolink:NamedThing CRYGC tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060249 biolink:NamedThing anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpte7i6ely_mondo_relaxed.owl anatomical structure maintenance owl:Class MONDO:0013360 biolink:NamedThing brachyolmia, Maroteaux type Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias. tmpte7i6ely_mondo_relaxed.owl BCYM2|brachyolmia type 2|brachyolmia, Maroteaux type OMIM:613678|SCTID:389165004|Orphanet:93302|ICD10:Q76.3 owl:Class MONDO:0015262 biolink:NamedThing brachyolmia Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. tmpte7i6ely_mondo_relaxed.owl brachyrachia UMLS:C0432228|Orphanet:1293|OMIM:271530|ICD9:756.19|ICD10:Q76.3|DOID:0050690|OMIM:613678|SCTID:254088006|MESH:C537098|GARD:0010903|OMIM:113500|OMIM:271630 owl:Class HGNC:14124 biolink:NamedThing NPRL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018566 biolink:NamedThing short stature-advanced bone age-early-onset osteoarthritis syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:435804|UMLS:CN237575|ICD10:M89.8 owl:Class HGNC:11408 biolink:NamedThing STK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016536 biolink:NamedThing autosomal recessive lymphoproliferative disease A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. tmpte7i6ely_mondo_relaxed.owl CD27 deficiency OMIM:613011|ICD10:D47.9|OMIM:615122|Orphanet:238505 owl:Class MONDO:0012226 biolink:NamedThing febrile seizures, familial, 5 tmpte7i6ely_mondo_relaxed.owl FEB5|convulsions, familial febrile, 5|febrile seizures, familial, 5 MESH:C563762|OMIM:609255|UMLS:C1836507|DOID:0111306 owl:Class MONDO:0021273 biolink:NamedThing leiomyoma of ciliary body A leiomyoma that involves the ciliary body. tmpte7i6ely_mondo_relaxed.owl leiomyoma of the ciliary body|ciliary body leiomyoma ICD9:224.0|SCTID:255020006|NCIT:C4560|UMLS:C0346386 owl:Class MONDO:0019646 biolink:NamedThing unilateral congenital megacalycosis tmpte7i6ely_mondo_relaxed.owl Orphanet:93176|ICD10:Q63.8 owl:Class MONDO:0019768 biolink:NamedThing X-linked intellectual disability, Golabi-Ito-hall type Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. tmpte7i6ely_mondo_relaxed.owl UMLS:CN206703|Orphanet:93947 owl:Class MONDO:0003781 biolink:NamedThing bronchitis An acute or chronic inflammatory process affecting the bronchi. tmpte7i6ely_mondo_relaxed.owl acute bronchitis and bronchiolitis|recurrent wheezy bronchitis|chest infection|inflammation of bronchus|bronchus inflammation|CI - chest infection|chest cold|acute bronchitis|bronchial infection|chronic bronchitis UMLS:C0008677|MESH:D001991|ICD9:490|ICD9:466.0|UMLS:C0006277|NCIT:C2911|CSP:2596-1500|ICD9:491|EFO:0009661|ICD10:J42|ICD9:491.9|NCIT:C26722|ICD10:J20|DOID:6132|SCTID:32398004|ICD10:J40|ICD10:J20.9 owl:Class FOODON:03412972 biolink:NamedThing food additive tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017306 biolink:NamedThing disorder of phenylalanine metabolism tmpte7i6ely_mondo_relaxed.owl ICD9:270.8|Orphanet:284814|SCTID:12957008|ICD10:E70.1|ICD10:E70.0|UMLS:C0268461 owl:Class MONDO:0017294 biolink:NamedThing glycerol kinase deficiency, infantile form Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. tmpte7i6ely_mondo_relaxed.owl ICD10:E74.8|OMIM:307030|Orphanet:284408 owl:Class MONDO:0018059 biolink:NamedThing meningococcal meningitis An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. tmpte7i6ely_mondo_relaxed.owl ICD10:G01*|EFO:1001040|DOID:0080176|SCTID:192644005|MedDRA:10027276|ICD10:A39.0|MESH:D008585|Orphanet:33475|ICD9:036.0|UMLS:C0025294|ICD10:A39.0+|MedDRA:10027249 owl:Class MONDO:0020775 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation 1 tmpte7i6ely_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1|Cdgf|CDGF1 OMIM:618005 owl:Class MONDO:0060720 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation tmpte7i6ely_mondo_relaxed.owl CDGF|congenital disorder of glycosylation with defective fucosylation OMIMPS:618005|UMLS:CN248517 owl:Class MONDO:0044332 biolink:NamedThing childhood-onset benign chorea with striatal involvement tmpte7i6ely_mondo_relaxed.owl Orphanet:494541 owl:Class MONDO:0012871 biolink:NamedThing Jervell and Lange-Nielsen syndrome 2 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. tmpte7i6ely_mondo_relaxed.owl KCNE1 Jervell and Lange-Nielsen syndrome|JLNS2|Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome type 2 OMIM:612347|Orphanet:90647|GARD:0010364|MESH:C567343|Orphanet:768 https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 owl:Class MONDO:0013372 biolink:NamedThing long QT syndrome 5 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. tmpte7i6ely_mondo_relaxed.owl long QT syndrome 2/5, digenic|long QT syndrome 5, acquired, susceptibility to|LQT5|long QT syndrome 5|long QT syndrome caused by mutation in KCNE1|KCNE1 long QT syndrome|long QT syndrome type 5 GARD:0010433|DOID:0110647|MESH:C566766|UMLS:C1867904|HGNC:6240|ICD10:I45.8|Orphanet:768|OMIM:613695|Orphanet:101016 https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 owl:Class MONDO:0001940 biolink:NamedThing pleuropneumonia Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. tmpte7i6ely_mondo_relaxed.owl MESH:D011001|DOID:14319|UMLS:C0032241|SCTID:60485005 owl:Class HGNC:30927 biolink:NamedThing SLC6A20 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018022 biolink:NamedThing hemoglobin Lepore-beta-thalassemia syndrome tmpte7i6ely_mondo_relaxed.owl HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome ICD10:D56.8|Orphanet:330032|UMLS:CN227251 owl:Class GO:0061458 biolink:NamedThing reproductive system development The progression of the reproductive system over time from its formation to the mature structure. The reproductive system consists of the organs that function in reproduction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010660 biolink:NamedThing intellectual disability, X-linked 9 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|mental retardation, X-linked 9|intellectual disability, X-linked 9|FTSJ1 non-syndromic X-linked intellectual disability|MRX9|intellectual disability, X-linked type 9|mental retardation, X-linked type 9|intellectual disability, X-linked 44|mental retardation, X-linked 44 OMIM:309549|UMLS:C0796215|MESH:C563137|Orphanet:777 owl:Class MONDO:0008525 biolink:NamedThing syringomyelia, isolated tmpte7i6ely_mondo_relaxed.owl syringomyelia, noncommunicating isolated|syringomyelia, isolated OMIM:186700|Orphanet:3280|MESH:C566084 owl:Class HGNC:26006 biolink:NamedThing TTC19 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3661 biolink:NamedThing FGA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008435 biolink:NamedThing Somatomedin, embryonic tmpte7i6ely_mondo_relaxed.owl Somatomedin, embryonic OMIM:182400 owl:Class MONDO:0004421 biolink:NamedThing sclerosing breast papilloma A breast papilloma characterized by the presence of predominant sclerosing architectural features. tmpte7i6ely_mondo_relaxed.owl sclerosing breast papilloma|Complex sclerosing papillary lesion|Complex sclerosing papillary lesion of the breast DOID:7984|NCIT:C27944|UMLS:C1335932 owl:Class MONDO:0021535 biolink:NamedThing pancreatic neuroendocrine tumor G1 A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%. tmpte7i6ely_mondo_relaxed.owl pancreas carcinoid tumor|pancreas NET G1|pancreatic NET G1|pancreas neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of pancreas|pancreas neuroendocrine tumor, well differentiated, low grade|pancreatic neuroendocrine tumor G1 NCIT:C95584|SCTID:254613007 owl:Class MONDO:0020630 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 1 tmpte7i6ely_mondo_relaxed.owl IECEE1|epileptic encephalopathy, infantile or early childhood, 1 DOID:0080472|OMIM:617711 owl:Class MONDO:0002779 biolink:NamedThing central nervous system chondroma An extraskeletal chondroma usually arising from the dura. tmpte7i6ely_mondo_relaxed.owl chondroma of the central nervous system|chondroma of the CNS|osteochondroma of CNS|CNS osteochondroma|chondroma of central nervous system|osteochondroma of central nervous system|osteochondroma of the central nervous system|osteochondroma of the CNS|central nervous system chondroma|CNS chondroma|chondroma of CNS|central nervous system osteochondroma DOID:3813|UMLS:C1333019|NCIT:C7001 owl:Class MONDO:0032823 biolink:NamedThing intellectual developmental disorder 60 with seizures tmpte7i6ely_mondo_relaxed.owl MRD60|Mental Retardation, Autosomal Dominant 60, With Seizures|INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES OMIM:618587 owl:Class MONDO:0003735 biolink:NamedThing central nervous system immature teratoma A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl immature teratoma of the central nervous system|central nervous system immature teratoma|CNS immature teratoma|immature teratoma of the CNS|immature teratoma of central nervous system|immature teratoma of CNS|immature teratoma UMLS:C1332883|NCIT:C7014|DOID:6019|ONCOTREE:BIMT owl:Class GO:1900543 biolink:NamedThing negative regulation of purine nucleotide metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process. tmpte7i6ely_mondo_relaxed.owl down-regulation of purine nucleotide metabolism|downregulation of purine metabolism|downregulation of purine metabolic process|inhibition of purine nucleotide metabolic process|negative regulation of purine nucleotide metabolism|down-regulation of purine metabolism|down-regulation of purine nucleotide metabolic process|negative regulation of purine metabolic process|downregulation of purine nucleotide metabolism|down-regulation of purine metabolic process|inhibition of purine nucleotide metabolism|down regulation of purine nucleotide metabolism|down regulation of purine metabolism|downregulation of purine nucleotide metabolic process|inhibition of purine metabolism|down regulation of purine metabolic process|negative regulation of purine metabolism|inhibition of purine metabolic process|down regulation of purine nucleotide metabolic process owl:Class HGNC:7160 biolink:NamedThing MMP14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001966 biolink:NamedThing chronic closed-angle glaucoma Chronic form of angle-closure glaucoma. tmpte7i6ely_mondo_relaxed.owl chronic angle-closure glaucoma|anatomical narrow angle glaucoma|angle-closure glaucoma, chronic|chronic narrow angle glaucoma DOID:14445|SCTID:33647009|ICD10:H40.22|UMLS:C0154947|ICD9:365.23 owl:Class MONDO:0042490 biolink:NamedThing neutropenia, severe congenital, 1, autosomal dominant tmpte7i6ely_mondo_relaxed.owl neutropenia, severe congenital, 1, autosomal dominant|SCN1 UMLS:C1859966|Orphanet:486|DOID:0080625|OMIM:202700|MESH:C565969 owl:Class HGNC:1971 biolink:NamedThing CHST3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007981 biolink:NamedThing metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A tmpte7i6ely_mondo_relaxed.owl metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a Orphanet:512|OMIM:156310|UMLS:C1835007|MESH:C563587 owl:Class MONDO:0011711 biolink:NamedThing specific language impairment 2 tmpte7i6ely_mondo_relaxed.owl specific language impairment quantitative trait locus on chromosome 19|SLI2|specific language impairment 2 OMIM:606712|UMLS:C1847605 owl:Class NCBITaxon:33682 biolink:NamedThing Euglenozoa tmpte7i6ely_mondo_relaxed.owl Euglenozoans GC_ID:1 ncbi_taxonomy owl:Class HP:0008398 biolink:NamedThing Hypoplastic fifth fingernail A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. tmpte7i6ely_mondo_relaxed.owl Underdeveloped fifth fingernail|Underdeveloped fingernail of pinky finger|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinkie finger UMLS:C4024682 HP:0200103 human_phenotype owl:Class HGNC:6224 biolink:NamedThing KCNA5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008812 biolink:NamedThing AREDYLD syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl AREDYLD|acrorenal defect-ectodermal dysplasia-diabetes syndrome|acral renal ectodermal dysplasia lipoatrophic diabetes|acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes UMLS:C0342280|GARD:0008509|Orphanet:1133|ICD10:Q87.8|MESH:C537427|SCTID:237610008|ICD9:753.3|OMIM:207780 owl:Class UBERON:0016481 biolink:NamedThing bronchial lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018757 biolink:NamedThing supratip dysplasia Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. tmpte7i6ely_mondo_relaxed.owl ICD10:J34.8|Orphanet:466695 owl:Class MONDO:0005848 biolink:NamedThing miliary tuberculosis I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. tmpte7i6ely_mondo_relaxed.owl generalized tuberculosis|tuberculosis miliaris disseminata|disseminated tuberculosis|acute miliary tuberculosis ICD9:018|ICD9:018.90|SCTID:47604008|NCIT:C35086|MESH:D014391|UMLS:C0041321|ICD9:018.9|DOID:9861|UMLS:C0152915|ICD9:018.80|ICD10:A19|ICD10:A19.9|EFO:0007368 owl:Class HGNC:13886 biolink:NamedThing ABCG5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017839 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency. tmpte7i6ely_mondo_relaxed.owl classic 21-OHD CAH, salt wasting form ICD10:E25.0|Orphanet:315306 owl:Class MONDO:0003645 biolink:NamedThing cavernous hemangioma of face A cavernous hemangioma arising from the face. tmpte7i6ely_mondo_relaxed.owl face cavernous hemangioma|cavernous hemangioma of the Face|cavernous hemangioma of face NCIT:C7053|DOID:5776|UMLS:C1332863|HP:0007486|EFO:1000152 MONDO:0006125 owl:Class MONDO:0004432 biolink:NamedThing mature pericardial teratoma A benign teratoma that arises from the pericardium. tmpte7i6ely_mondo_relaxed.owl mature pericardial teratoma|benign pericardial teratoma|mature teratoma of pericardium|pericardium mature teratoma|mature teratoma of the pericardium NCIT:C6744|UMLS:C1334638|DOID:8012 owl:Class MONDO:0016150 biolink:NamedThing qualitative or quantitative defects of integrin alpha-7 tmpte7i6ely_mondo_relaxed.owl Integrinopathy Orphanet:207098 owl:Class MONDO:0060585 biolink:NamedThing neuronopathy, distal hereditary motor, type 9 tmpte7i6ely_mondo_relaxed.owl neuropathy, distal hereditary motor, type 9|HMN9|neuronopathy, distal hereditary motor, type IX DOID:0111212|UMLS:C4540265|OMIM:617721 owl:Class HGNC:2523 biolink:NamedThing CTRC tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50908 biolink:NamedThing hepatotoxic agent A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals. tmpte7i6ely_mondo_relaxed.owl hepatotoxicant|hepatotoxic agents|agente hepatotoxico|hepatotoxin|hepatotoxicants|hepatoxic agent|hepatotoxins|hepatoxicant owl:Class CHEBI:33286 biolink:NamedThing agrochemical An agrochemical is a substance that is used in agriculture or horticulture. tmpte7i6ely_mondo_relaxed.owl agricultural chemicals|agrochemicals|agrichemical|agrichemicals owl:Class MONDO:0004742 biolink:NamedThing primary cerebellar degeneration A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. tmpte7i6ely_mondo_relaxed.owl DOID:9277|UMLS:C0033132|ICD9:334.2|SCTID:23732000 owl:Class MONDO:0056822 biolink:NamedThing amyotonia congenita tmpte7i6ely_mondo_relaxed.owl amyotonia congenita|Oppenheim disease OMIM:205000 owl:Class CHEBI:76042 biolink:NamedThing aromatic amino-acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid. tmpte7i6ely_mondo_relaxed.owl aromatic amino-acid zwitterions|an aromatic amino-acid owl:Class MONDO:0007323 biolink:NamedThing Chondronectin tmpte7i6ely_mondo_relaxed.owl Chondronectin OMIM:118670 owl:Class MONDO:0005718 biolink:NamedThing Coronaviridae infectious disease Virus diseases caused by coronaviridae. tmpte7i6ely_mondo_relaxed.owl EFO:0007223|UMLS:C0010078 owl:Class MONDO:0024893 biolink:NamedThing toxocara canis infection (canine roundworms) tmpte7i6ely_mondo_relaxed.owl Human infection with the larvae of canine or feline roundworms|Toxocara catis infection (feline roundworms) UMLS:C2930846|MESH:C531834 owl:Class MONDO:0017585 biolink:NamedThing painful orbital and systemic neurofibromas-marfanoid habitus syndrome tmpte7i6ely_mondo_relaxed.owl multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus Orphanet:300501|GARD:0011006|UMLS:CN203391 https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome owl:Class GO:0030813 biolink:NamedThing positive regulation of nucleotide catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpte7i6ely_mondo_relaxed.owl up-regulation of nucleotide catabolic process|positive regulation of nucleotide degradation|positive regulation of nucleotide catabolism|upregulation of nucleotide catabolic process|stimulation of nucleotide catabolic process|activation of nucleotide catabolic process|positive regulation of nucleotide breakdown|up regulation of nucleotide catabolic process owl:Class MONDO:0006217 biolink:NamedThing gallbladder adenosquamous carcinoma A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. tmpte7i6ely_mondo_relaxed.owl adenosquamous gallbladder carcinoma|gallbladder adenosquamous cancer|adenosquamous carcinoma of the gallbladder|gallbladder adenosquamous carcinoma|adenosquamous carcinoma of gallbladder|GBASC|gall bladder adenosquamous carcinoma EFO:1000264|UMLS:C1333741|DOID:5627|ONCOTREE:GBASC|NCIT:C7356 owl:Class MONDO:0023243 biolink:NamedThing glass-chapman-hockley syndrome The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl craniosynostosis-dysmorphism-brachydactyly syndrome|craniosynostosis - dysmorphism - brachydactyly|craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis brachydactyly|glass chapman hockley syndrome UMLS:C4303810|Orphanet:1535|SCTID:720814001|GARD:0002479 https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome owl:Class MONDO:0010270 biolink:NamedThing syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic 7|Ahmad X-linked intellectual disability syndrome|mental retardation, obesity, hypogonadism, and tapering fingers|intellectual disability, X-linked syndromic 7|intellectual disability, X-linked, syndromic 7|X-linked intellectual disability, Ahmad type|syndromic X-linked intellectual disability type 7|MRXS7|intellectual disability, obesity, hypogonadism, and tapering fingers|mental retardation, X-linked syndromic 7|Ahmad X-linked mental retardation syndrome|mental retardation X-linked syndromic 7|intellectual disability X-linked syndromic 7 GARD:0009156|MESH:C537449|UMLS:C1846170|OMIM:300218|ICD10:Q87.8|Orphanet:85274|UMLS:C4304916|SCTID:719160009|DOID:0060808 owl:Class MONDO:0010561 biolink:NamedThing Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. tmpte7i6ely_mondo_relaxed.owl Coffin syndrome 1|lean spastic dwarfism|mental retardation with osteocartilaginous abnormalities|Coffin-Lowry syndrome|COFFIN-Lowry syndrome|CLS|intellectual disability with osteocartilaginous abnormalities|dwarfism, lean spastic type|Coffin syndrome GARD:0006123|UMLS:C0265252|MESH:C536435|NCIT:C84643|ICD9:759.89|Orphanet:192|DOID:3783|OMIM:303600|ICD10:Q87.0|GARD:0008589|SCTID:15182000|MESH:D038921 https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome|https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 owl:Class UBERON:0002001 biolink:NamedThing joint of rib tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903429 biolink:NamedThing regulation of cell maturation Any process that modulates the frequency, rate or extent of cell maturation. tmpte7i6ely_mondo_relaxed.owl regulation of functional differentiation owl:Class MONDO:0008732 biolink:NamedThing adrenal hypoplasia, cytomegalic type tmpte7i6ely_mondo_relaxed.owl adrenal hypoplasia, cytomegalic type Orphanet:95702|UMLS:C1859977|OMIM:202155 owl:Class GO:0034622 biolink:NamedThing cellular protein-containing complex assembly The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell. tmpte7i6ely_mondo_relaxed.owl cellular macromolecule complex assembly|cellular protein complex assembly owl:Class PATO:0001794 biolink:NamedThing coiling A shape quality inhering in a bearer by virtue of the bearer's being wound in a continuous series of loops. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003097 biolink:NamedThing childhood mediastinal neurogenic neoplasm tmpte7i6ely_mondo_relaxed.owl pediatric neurogenic neoplasm of mediastinum|pediatric neurogenic neoplasm of the mediastinum|childhood neurogenic neoplasm of mediastinum|childhood neurogenic tumor of mediastinum|childhood neurogenic tumor of the mediastinum|childhood mediastinal neurogenic neoplasm|pediatric mediastinal neurogenic neoplasm|pediatric neurogenic tumor of the mediastinum|pediatric mediastinal neurogenic tumor|childhood neurogenic neoplasm of the mediastinum|childhood mediastinal neurogenic tumor|pediatric neurogenic tumor of mediastinum NCIT:C5429|UMLS:C1332981|DOID:4690 owl:Class MONDO:0002128 biolink:NamedThing mononeuritis multiplex A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome. tmpte7i6ely_mondo_relaxed.owl mononeuritis multiplex ICD10:G58.7|SCTID:30292005|ICD9:354.5|UMLS:C0151295|NCIT:C70938|GARD:0007056|DOID:1835 https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex owl:Class MONDO:0024715 biolink:NamedThing benign synovial neoplasm A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. tmpte7i6ely_mondo_relaxed.owl synovium neoplasm, benign|benign synovial neoplasm|benign synovioma|synovioma, benign|benign synovium neoplasm|benign neoplasm of synovium|benign tumor of synovium|benign neoplasm of the synovium|benign tumor of the synovium|benign synovial tumor UMLS:C0221289|NCIT:C3829|ICDO:9040/0 owl:Class HGNC:29174 biolink:NamedThing WASHC4 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000393 biolink:NamedThing electrically responsive cell A cell whose function is determined by its response to an electric signal. tmpte7i6ely_mondo_relaxed.owl cell owl:Class ECTO:8000035 biolink:NamedThing exposure to anthropogenic modulatory intervention process A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process. tmpte7i6ely_mondo_relaxed.owl anthropogenic modulatory intervention process exposure owl:Class HP:0100737 biolink:NamedThing Abnormal hard palate morphology tmpte7i6ely_mondo_relaxed.owl Abnormality of the secondary palate|Abnormality of the hard palate UMLS:C4021983 doelkens 2011-06-06T05:42:10Z human_phenotype owl:Class HP:0000174 biolink:NamedThing Abnormal palate morphology Any abnormality of the palate, i.e., of roof of the mouth. tmpte7i6ely_mondo_relaxed.owl Abnormality of the palate|Palate abnormality|Palatal anomaly|Abnormality of the roof of the mouth UMLS:C4021815 human_phenotype owl:Class MONDO:0007022 biolink:NamedThing xanthogranulomatous pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. tmpte7i6ely_mondo_relaxed.owl xanthogranulomatous pyelonephritis NCIT:C123038|MedDRA:10074389|GARD:0012021|EFO:1001244|SCTID:38898003|DOID:11401|ICD9:582.89|UMLS:C0034188|MESH:D011705 owl:Class MONDO:0001110 biolink:NamedThing chronic pyelonephritis Persistent pyelonephritis. tmpte7i6ely_mondo_relaxed.owl pyelonephritis, chronic ICD10:N11.9|ICD9:590.0|SCTID:63302006|ICD10:N11|NCIT:C123216|UMLS:C0085697|DOID:1076 owl:Class MONDO:0042908 biolink:NamedThing Schaap-Taylor-Baraitser syndrome tmpte7i6ely_mondo_relaxed.owl Schaap Taylor Baraitser syndrome|cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature 2022-05-01 GARD:0000248 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0013524 biolink:NamedThing bleeding diathesis due to thromboxane synthesis deficiency tmpte7i6ely_mondo_relaxed.owl bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|susceptibility to platelet-type bleeding disorder 13|bleeding disorder, platelet-type, 13, susceptibility to|BDPLT13 ICD10:D69.8|Orphanet:220443|OMIM:614009 owl:Class MONDO:0005945 biolink:NamedThing rhinoscleroma A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. tmpte7i6ely_mondo_relaxed.owl MESH:D012226|SCTID:72409005|EFO:0007470|ICD9:040.1|UMLS:C0035468|DOID:11336 owl:Class MONDO:0019795 biolink:NamedThing acalvaria Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal. tmpte7i6ely_mondo_relaxed.owl Acrania|primary acalvaria GARD:0000361|ICD10:Q00.0|SCTID:203923004|MESH:C535570|UMLS:C2930936|Orphanet:945 https://rarediseases.info.nih.gov/diseases/361/acalvaria owl:Class MONDO:0043131 biolink:NamedThing michels caskey syndrome tmpte7i6ely_mondo_relaxed.owl Mullerian aplasia with hypoplastic thumbs|Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities UMLS:C2931537|GARD:0003590|MESH:C537576 owl:Class HGNC:29401 biolink:NamedThing MYSM1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001000 biolink:NamedThing environmental system determined by an organism An environmental system which is determined by a living organism. tmpte7i6ely_mondo_relaxed.owl host-associated environment owl:Class MONDO:0005208 biolink:NamedThing amelanotic skin melanoma A amelanotic melanoma that involves the zone of skin. tmpte7i6ely_mondo_relaxed.owl zone of skin amelanotic melanoma|amelanotic skin melanoma|amelanotic cutaneous (skin) melanoma|amelanotic melanoma of zone of skin|amelanotic malignant melanoma of the skin|skin amelanotic melanoma|skin amelanotic malignant melanoma|amelanotic melanoma of skin|amelanotic malignant melanoma of skin|amelanotic malignant melanoma (of skin)|amelanotic melanoma of the skin|amelanotic malignant skin melanoma DOID:10054|NCIT:C4633|Wikipedia:Amelanotic_melanoma|UMLS:C0349515|EFO:0002894 owl:Class MONDO:0011742 biolink:NamedThing hirschsprung disease, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 7|HSCR7 OMIM:606875|Orphanet:388 owl:Class MONDO:0002613 biolink:NamedThing histrionic personality disorder A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior. tmpte7i6ely_mondo_relaxed.owl histrionic personality disorder|histrionic personality disorder (disease) histrionic personality disorder (disease) SCTID:55341008|MESH:D006677|HP:0012077|ICD9:301.59|NCIT:C92634|ICD9:301.5|ICD9:301.50|DOID:334|ICD10:F60.4 owl:Class MONDO:0030506 biolink:NamedThing ovarian dysgenesis 9 tmpte7i6ely_mondo_relaxed.owl ODG9 OMIM:619665 owl:Class MONDO:0007807 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase suppressor tmpte7i6ely_mondo_relaxed.owl hypoxanthine guanine phosphoribosyltransferase suppressor OMIM:146580 owl:Class HP:0011362 biolink:NamedThing Abnormal hair quantity An abnormal amount of hair. tmpte7i6ely_mondo_relaxed.owl Abnormal hair quantity|Abnormality of hair density UMLS:C4023397|UMLS:C4023401 peter 2012-03-01T08:46:57Z HP:0002115|HP:0011357 human_phenotype owl:Class MONDO:0020302 biolink:NamedThing Angelman syndrome due to maternal 15q11q13 deletion tmpte7i6ely_mondo_relaxed.owl Angelman syndrome due to maternal monosomy 15q11q13 ICD10:Q93.5|UMLS:CN207116|Orphanet:98794 owl:Class MONDO:0006989 biolink:NamedThing suppurative periapical periodontitis Localized collection of pus in the tissues that enclose the root of a tooth. tmpte7i6ely_mondo_relaxed.owl suppurative apical periodontitis|periapical abscess|dentoalveolar abscess|apical abscess|periapical dental abscess EFO:1001202|DOID:2562|MESH:D010482|NCIT:C34913|UMLS:C0031024 owl:Class MONDO:0010329 biolink:NamedThing intellectual disability, X-linked 77 tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 77|MRX77|mental retardation, X-linked 77 MESH:C564511|UMLS:C1845499|OMIM:300454 owl:Class CL:0001025 biolink:NamedThing Kit-positive, Sca1-positive common lymphoid progenitor A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low. tmpte7i6ely_mondo_relaxed.owl CD217-positive common lymphoid precursor|CD217-positive common lymphocyte precursor|CD217-positive common lymphocyte progenitor Markers are associated with mouse cells. cell owl:Class MONDO:0007107 biolink:NamedThing anal sphincter myopathy, internal tmpte7i6ely_mondo_relaxed.owl anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy MESH:C566287|OMIM:105565|UMLS:C1862935 owl:Class MONDO:0005120 biolink:NamedThing Drosophila C virus infection A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses. tmpte7i6ely_mondo_relaxed.owl Drosophila C virus disease or disorder|Drosophila C virus infectious disease|Drosophila C virus caused disease or disorder PMID:25253354|EFO:0000779 owl:Class MONDO:0023472 biolink:NamedThing chondrodysplasia situs inversus imperforate anus polydactyly tmpte7i6ely_mondo_relaxed.owl impossible syndrome GARD:0001299 https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly owl:Class GO:0043648 biolink:NamedThing dicarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). tmpte7i6ely_mondo_relaxed.owl dicarboxylic acid metabolism|dicarboxylate metabolic process|dicarboxylate metabolism owl:Class HP:0000492 biolink:NamedThing Abnormal eyelid morphology An abnormality of the eyelids. tmpte7i6ely_mondo_relaxed.owl Abnormality of the eyelids|Abnormality of the eyelid UMLS:C4021803 HP:0000285 human_phenotype owl:Class MONDO:0008076 biolink:NamedThing amyotrophic neuralgia An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. tmpte7i6ely_mondo_relaxed.owl neuralgic amyotrophy|hereditary neuralgic amyotrophy|neuritis with brachial predilection|hereditary brachial plexus neuropathy|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary|HNA|amyotrophy, hereditary neuralgic GARD:0003955|Orphanet:2901|MESH:D020968|SCTID:26609002|OMIM:162100|ICD10:G54.5|ICD9:353.5|DOID:10383|SCTID:3548001 owl:Class ENVO:09200017 biolink:NamedThing composition of water The composition of some water. tmpte7i6ely_mondo_relaxed.owl water composition owl:Class MONDO:0012032 biolink:NamedThing Braddock syndrome Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. tmpte7i6ely_mondo_relaxed.owl Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency|VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency OMIM:608406|MESH:C564244|UMLS:C1842082|ICD10:Q87.8|Orphanet:52047|SCTID:720575002|UMLS:C4303988 owl:Class MONDO:0008137 biolink:NamedThing orofaciodigital syndrome X Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. tmpte7i6ely_mondo_relaxed.owl Figuera syndrome|oral-Facial-digital syndrome, type 10|orofaciodigital syndrome type X|Ofds 10|OFD10|oral-facial-digital syndrome 10|orofaciodigital syndrome type 10|oral facial digital syndrome type 10|oral facial digital syndrome 10|OFD syndrome 10|orofaciodigital syndrome 10|orofaciodigital syndrome with fibular aplasia|oral-Facial-digital syndrome with fibular aplasia|oral-facial-digital syndrome type 10|orofaciodigital syndrome X|orofaciodigital syndrome type Figuera SCTID:722075004|DOID:0060380|OMIM:165590|MESH:C563491|GARD:0004061|Orphanet:2756|UMLS:C1833796|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10 owl:Class NCBITaxon:1385 biolink:NamedThing Bacillales tmpte7i6ely_mondo_relaxed.owl Bacillus/Staphylococcus group GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:91061 biolink:NamedThing Bacilli tmpte7i6ely_mondo_relaxed.owl Firmibacteria|Bacillus/Lactobacillus/Streptococcus group GC_ID:11 ncbi_taxonomy owl:Class HGNC:10418 biolink:NamedThing RPS28 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043783 biolink:NamedThing sclerema neonatorum A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. tmpte7i6ely_mondo_relaxed.owl sclerema neonatorum|underwood's disease|sclerema adiposum MESH:D012593|NCIT:C35009|SCTID:206539008 owl:Class MONDO:0015740 biolink:NamedThing trisomy 18p Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy. tmpte7i6ely_mondo_relaxed.owl 18p trisomy|trisomy type 18p|Duplication of the short arm of chromosome 18|18p duplication|partial trisomy 18p|chromosome 18p duplication|Duplication 18p|trisomy of the short arm of chromosome 18 ICD10:Q92.2|Orphanet:1715|MESH:C538307|GARD:0005323 owl:Class UBERON:0005002 biolink:NamedThing mucosa of right hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5598 biolink:NamedThing Alternaria tmpte7i6ely_mondo_relaxed.owl PMID:24014900|GC_ID:1 NCBITaxon:645883 ncbi_taxonomy owl:Class MONDO:0012384 biolink:NamedThing panic disorder 3 tmpte7i6ely_mondo_relaxed.owl panic disorder susceptibility locus, chromosome 4Q-related|panic disorder 3|panic disorder type 3|Pand3 OMIM:609985|UMLS:C1864946 owl:Class GO:0033576 biolink:NamedThing protein glycosylation in cytosol The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol. tmpte7i6ely_mondo_relaxed.owl protein amino acid glycosylation in cytosol owl:Class MONDO:0007705 biolink:NamedThing Heinz body anemia tmpte7i6ely_mondo_relaxed.owl Heinz body anemias Orphanet:178330|MedDRA:10002058|OMIM:140700|ICD10:D58.2|HP:0005511|UMLS:C0700299|DOID:0111363|GARD:0010718|MESH:C563030 owl:Class UBERON:0002561 biolink:NamedThing lumen of central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:03000008 biolink:NamedThing compaction process A physical process during which atoms, molecules, or other consituents of a material entity are forced closer together. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0007663 biolink:NamedThing Reduced visual acuity tmpte7i6ely_mondo_relaxed.owl Decreased central vision|Decreased visual acuity|Poor visual acuity|Decreased clarity of vision SNOMEDCT_US:13164000|UMLS:C0234632 HP:0008008|HP:0007969|HP:0007693|HP:0001091|HP:0007739 human_phenotype owl:Class MONDO:0011132 biolink:NamedThing T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. tmpte7i6ely_mondo_relaxed.owl alopecia immunodeficiency|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|alymphoid cystic thymic dysgenesis|FOXN1 deficiency|winged helix deficiency|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|T-cell immunodeficiency, congenital alopecia and nail dystrophy|severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|Pignata Guarino syndrome Orphanet:169095|DOID:0060769|GARD:0004358|OMIM:601705|ICD10:D82.8|MESH:C536781|UMLS:C1866426|SCTID:720345008 https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy owl:Class MONDO:0009391 biolink:NamedThing hypermetabolism due to defect in mitochondria tmpte7i6ely_mondo_relaxed.owl hypermetabolism due to defect in mitochondria MESH:C565498|OMIM:238800|UMLS:C1855926 owl:Class GO:0045670 biolink:NamedThing regulation of osteoclast differentiation Any process that modulates the frequency, rate or extent of osteoclast differentiation. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:75381 biolink:NamedThing EC 1.11.1.* (peroxidases) inhibitor An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*). tmpte7i6ely_mondo_relaxed.owl inhibitors of peroxidases|EC 1.11.1 inhibitor|EC 1.11.1.* (peroxidases) inhibitors|EC 1.11.1.* inhibitors|EC 1.11.1 inhibitors|EC 1.11.1.* (peroxidase) inhibitors|EC 1.11.1.* (peroxidase) inhibitor|inhibitor of peroxidases|EC 1.11.1.* inhibitor|peroxidases inhibitors owl:Class HP:0011035 biolink:NamedThing Abnormal renal cortex morphology An abnormality of the cortex of the kidney. tmpte7i6ely_mondo_relaxed.owl Abnormality of renal cortex morphology UMLS:C4023580 peter 2011-03-06T11:31:39Z human_phenotype owl:Class MONDO:0015800 biolink:NamedThing osteosclerosis-developmental delay-craniosynostosis syndrome This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200391|ICD10:Q75.8|SCTID:722117000|Orphanet:178377 owl:Class MONDO:0030437 biolink:NamedThing congenital disorder of glycosylation, type IIw tmpte7i6ely_mondo_relaxed.owl CDG2W OMIM:619525 owl:Class MONDO:0044318 biolink:NamedThing intellectual developmental disorder with gastrointestinal difficulties and high pain threshold IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}). tmpte7i6ely_mondo_relaxed.owl intellectual developmental disorder with gastrointestinal difficulties and high pain threshold|IDDGIP UMLS:C4479517|OMIM:617450 owl:Class MONDO:0021046 biolink:NamedThing breast fibroepithelial neoplasm A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor. tmpte7i6ely_mondo_relaxed.owl breast fibroepithelial neoplasm|breast fibroepithelial neoplasms|BFN|breast fibroepithelial tumor NCIT:C40405|UMLS:C1511309|ONCOTREE:BFN owl:Class MONDO:0008822 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 1 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. tmpte7i6ely_mondo_relaxed.owl arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|Arc syndrome|arthrogryposis, renal dysfunction, and cholestasis type 1|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis 1|ARCS1 OMIM:208085|Orphanet:2697|DOID:0111353 owl:Class MONDO:0004754 biolink:NamedThing rectal prolapse Protrusion of the rectum through the anus. tmpte7i6ely_mondo_relaxed.owl procidentia, rectum|rectal prolapse (disease)|rectal prolapse rectal prolapse (disease) DOID:9307|NCIT:C34973|HP:0002035|UMLS:C0034888|ICD9:569.1|ICD10:K62.3 owl:Class GO:0007281 biolink:NamedThing germ cell development The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. tmpte7i6ely_mondo_relaxed.owl germ-cell development|primordial germ cell development owl:Class MONDO:0002928 biolink:NamedThing carcinosarcoma A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. tmpte7i6ely_mondo_relaxed.owl carcinosarcoma, malignant|mesodermal mixed tumor|mullerian mixed tumor|MMMT|carcinosarcoma|mixed tumor, Mullerian|mesodermal mixed tumor (morphologic abnormality)|malignant mixed mesodermal (mullerian) tumor|mullerian mixed tumor (morphologic abnormality)|malignant mixed Mullerian tumor|mixed mesodermal (mullerian) tumor|mixed Mullerian tumor GARD:0006966|MESH:D002296|DOID:4236|UMLS:C0206627|UMLS:C1334603|UMLS:C0007140|ICDO:8980/3|NCIT:C34448 owl:Class HP:0000309 biolink:NamedThing Abnormality of the midface An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. tmpte7i6ely_mondo_relaxed.owl Deformity of the midface|Anomaly of the midface|Malformation of the midface|Abnormality of the midface UMLS:C4021811 human_phenotype owl:Class MONDO:0037938 biolink:NamedThing inborn disorder of aspartate family metabolism An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn aspartate family amino acid metabolic process disorder|inborn error of aspartate family amino acid metabolic process|rare inborn error of aspartate family amino acid metabolic process owl:Class MONDO:0010805 biolink:NamedThing bladder exstrophy Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. tmpte7i6ely_mondo_relaxed.owl ectopia vesicae|exstrophy of the bladder|classic exstrophy of the bladder|bladder exstrophy|exstrophy of bladder|bladder exstrophy (disease)|bladder exstrophy and epispadias Complex bladder exstrophy (disease) GARD:0006398|DOID:0080174|UMLS:C0005689|ICD10:Q64.1|ICD9:753.5|SCTID:61758007|HP:0002836|OMIM:600057|Orphanet:93930|Orphanet:322|NCIT:C123207|UMLS:C1838703 https://github.com/monarch-initiative/mondo/issues/3650 owl:Class MONDO:0007127 biolink:NamedThing diffuse idiopathic skeletal hyperostosis This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. tmpte7i6ely_mondo_relaxed.owl Forestier's disease|diffuse idiopathic skeletal hyperostosis|ankylosing vertebral hyperostosis|dish|ankylosing vertebral hyperostosis with tylosis|disseminated idiopathic skeletal hyperostosis|Forestier disease EFO:0007236|SCTID:31487001|ICD9:733.99|UMLS:C0020498|ICD9:721.6|Orphanet:2206|MESH:D004057|NCIT:C84671|DOID:6652|GARD:0000842|OMIM:106400|ICD10:M48.1 owl:Class HGNC:4539 biolink:NamedThing GPR88 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0009259 biolink:NamedThing ribonucleotide metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleotide metabolism owl:Class MONDO:0024982 biolink:NamedThing salmonella infections, animal Infections in animals with bacteria of the genus salmonella. tmpte7i6ely_mondo_relaxed.owl infections, animal Salmonella|animal Salmonella infection|infection, animal Salmonella|Salmonella infection, animal|animal Salmonella infections UMLS:C0036118|MESH:D012481 owl:Class MONDO:0008957 biolink:NamedThing cervical vertebrae, agenesis of tmpte7i6ely_mondo_relaxed.owl cervical vertebrae, agenesis of OMIM:214290|MESH:C562952 owl:Class MONDO:0016545 biolink:NamedThing leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy palmoplantar keratoderma GARD:0003232|UMLS:CN201627|Orphanet:2386 https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma owl:Class MONDO:0004583 biolink:NamedThing transient retinal arterial occlusion A partial, temporary occlusion of the retinal artery. tmpte7i6ely_mondo_relaxed.owl transient arterial retinal occlusion|transient retinal arterial occlusion|retinal transient arterial occlusion DOID:8482|NCIT:C35193|ICD9:362.34|SCTID:87224000|ICD10:H34.0|UMLS:C0154840 owl:Class MONDO:0100262 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene. tmpte7i6ely_mondo_relaxed.owl PEX5 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX5 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:17358 biolink:NamedThing TPK1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035228 biolink:NamedThing tonsillar fossa tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001725 biolink:NamedThing cranial synchondrosis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033665 biolink:NamedThing hearing loss, autosomal dominant 78 tmpte7i6ely_mondo_relaxed.owl DFNA78|deafness, autosomal dominant 78 OMIM:619081 owl:Class MONDO:0021836 biolink:NamedThing Aksu von Stockhausen syndrome A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl aksu von stockhausen syndrome|hereditary branchial arch defects MESH:C535611|GARD:0000579 https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome owl:Class MONDO:0007051 biolink:NamedThing acromegaloid facial appearance syndrome Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. tmpte7i6ely_mondo_relaxed.owl acromegaloid facial appearance syndrome|AFA syndrome|thick lips and oral mucosa MESH:C535655|ICD10:Q87.0|Orphanet:965|SCTID:720456009|UMLS:C0796280|OMIM:102150|GARD:0000501 https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome owl:Class CHEBI:50266 biolink:NamedThing prodrug A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. tmpte7i6ely_mondo_relaxed.owl Prodrugs owl:Class MONDO:0018026 biolink:NamedThing tetraploidy syndrome The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. tmpte7i6ely_mondo_relaxed.owl tetraploidy ICD10:Q92.7|GARD:0005151|SCTID:726363000|MESH:D057891|UMLS:C0795884|Orphanet:3305 https://rarediseases.info.nih.gov/diseases/5151/tetraploidy owl:Class MONDO:0013277 biolink:NamedThing developmental and epileptic encephalopathy, 5 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene. tmpte7i6ely_mondo_relaxed.owl DEE5|early infantile epileptic encephalopathy caused by mutation in SPTAN1|EIEE5|SPTAN1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 5|epileptic encephalopathy, early infantile, type 5 OMIM:613477|UMLS:C3150731|DOID:0080438|Orphanet:3451 owl:Class HGNC:11494 biolink:NamedThing SYN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020461 biolink:NamedThing epiblepharon tmpte7i6ely_mondo_relaxed.owl Orphanet:99169|ICD10:Q10.3|SCTID:253212001|ICD9:743.63 owl:Class MONDO:0010796 biolink:NamedThing Parkinson disease, mitochondrial tmpte7i6ely_mondo_relaxed.owl Parkinson disease, mitochondrial UMLS:C1838867|MESH:C564015|OMIM:556500 owl:Class CL:0000937 biolink:NamedThing pre-natural killer cell Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins. tmpte7i6ely_mondo_relaxed.owl pre-NK cell These cells are also reportedly CD7-low, CD10-negative, CD45RA-positive, alpha-4-beta-7 integrin-high. cell owl:Class MONDO:0001080 biolink:NamedThing acute gonococcal cervicitis Acute form of gonococcal cervicitis. tmpte7i6ely_mondo_relaxed.owl gonococcal cervicitis, acute|gonococcal cervicitis (acute)|acute gonorrhea of cervix UMLS:C0153195|DOID:10615|SCTID:20943002|ICD9:098.15 owl:Class MONDO:0007501 biolink:NamedThing preauricular fistulae, congenital tmpte7i6ely_mondo_relaxed.owl Ear pits|preauricular fistulae, congenital|Pafc MESH:C563015|OMIM:128700 owl:Class FOODON:03411297 biolink:NamedThing vertebrate animal A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described. tmpte7i6ely_mondo_relaxed.owl animal owl:Class MONDO:0003853 biolink:NamedThing Bartholin gland adenocarcinoma A carcinoma that arises from glandular epithelial cells of the major vestibular gland. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the Bartholin's gland|adenocarcinoma of Bartholin's gland|Bartholin gland adenocarcinoma|major vestibular gland adenocarcinoma NCIT:C7719|DOID:6316|UMLS:C0238016 owl:Class MONDO:0009307 biolink:NamedThing granulomatous disease with defect in neutrophil chemotaxis tmpte7i6ely_mondo_relaxed.owl granulomatous disease with defect in neutrophil chemotaxis Orphanet:379|OMIM:233670|MESH:C565534|UMLS:C1856261 owl:Class UBERON:0005049 biolink:NamedThing mucosa of infundibulum of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010116 biolink:NamedThing thoracomelic dysplasia tmpte7i6ely_mondo_relaxed.owl Rivera-Perez-Salas syndrome|'thoraco-limb' dysplasia|thoracomelic dysplasia|thoraco-limb dysplasia|thoracolimb dysplasia, Rivera type GARD:0010612|MESH:C564773|Orphanet:1803|OMIM:273740|UMLS:C1848863|ICD10:Q77.2 owl:Class NCBITaxon:53258 biolink:NamedThing Variola minor virus tmpte7i6ely_mondo_relaxed.owl Variola virus subsp. minor GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10255 biolink:NamedThing Variola virus tmpte7i6ely_mondo_relaxed.owl smallpox virus|small pox virus|smallpox|variola virus VAR GC_ID:1 NCBITaxon:12871 ncbi_taxonomy owl:Class MONDO:0032744 biolink:NamedThing spermatogenic failure 37 tmpte7i6ely_mondo_relaxed.owl SPGF37|SPERMATOGENIC FAILURE 37 OMIM:618429 owl:Class MONDO:0017533 biolink:NamedThing postaxial polydactyly type B, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295167|UMLS:CN203264|ICD10:Q69.0 owl:Class MONDO:0001088 biolink:NamedThing acute inferoposterior infarction tmpte7i6ely_mondo_relaxed.owl acute inferoposterior infarction|acute myocardial infarction of inferoposterior wall|acute inferoposterior myocardial infarction ICD9:410.32|ICD9:410.30|DOID:10648|ICD9:410.31|UMLS:C0340304|SCTID:76593002 Editor note: TODO: positional superclass owl:Class MONDO:0017833 biolink:NamedThing primary hypereosinophilic syndrome tmpte7i6ely_mondo_relaxed.owl neoplastic hypereosinophilic syndrome|HES-N|primary HES|HES-M|clonal hypereosinophilic syndrome UMLS:CN203808|Orphanet:314950|ICD10:D47.5 owl:Class MONDO:0009382 biolink:NamedThing hyperbilirubinemia, shunt, primary tmpte7i6ely_mondo_relaxed.owl PSHB|hyperbilirubinemia, shunt, primary OMIM:237800 owl:Class OBI:0000011 biolink:NamedThing planned process A processual entity that realizes a plan which is the concretization of a plan specification.|A process that realizes a plan which is the concretization of a plan specification. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002185 biolink:NamedThing Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. tmpte7i6ely_mondo_relaxed.owl Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments SNOMEDCT_US:85775002|MSH:D016874|UMLS:C0085400 HP:0007070|HP:0003132 human_phenotype owl:Class HP:0100314 biolink:NamedThing Cerebral inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. tmpte7i6ely_mondo_relaxed.owl UMLS:C4022149 Inclusion bodies are usually derived from proteins. doelkens 2010-08-10T03:31:18Z human_phenotype owl:Class MONDO:0020603 biolink:NamedThing X-linked chondrodysplasia punctata 2 A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. tmpte7i6ely_mondo_relaxed.owl CDPX2|chondrodysplasia punctata 2, X-linked dominant|Conradi Hunermann syndrome|Conradi-Hünermann-Happle syndrome|X-linked chondrodysplasia punctata type 2|EBP chondrodysplasia punctata|CDPXD|Conradi-Hunermann-Happle syndrome|chondrodysplasia punctata caused by mutation in EBP|Conrad Hunermann Happle syndrome|Happle syndrome|Conradi-Hunermann syndrome|chondrodysplasia punctata 2 X-linked dominant DOID:0080352|Orphanet:35173|OMIM:302960|GARD:0006189 https://github.com/monarch-initiative/mondo/issues/2114|https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant owl:Class MONDO:0002306 biolink:NamedThing angular blepharoconjunctivitis A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. tmpte7i6ely_mondo_relaxed.owl DOID:2455|ICD9:372.21|ICD10:H10.52|UMLS:C0155149|SCTID:69397000 owl:Class ENVO:01001001 biolink:NamedThing plant-associated environment An environmental system determined by a green plant. tmpte7i6ely_mondo_relaxed.owl Viridiplantae-associated environment|plant environment owl:Class NCBITaxon:128827 biolink:NamedThing Erysipelotrichaceae tmpte7i6ely_mondo_relaxed.owl Erysipelothrix group GC_ID:11|PMID:14742484|PMID:27270136 ncbi_taxonomy owl:Class MONDO:0015281 biolink:NamedThing atrial standstill Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. tmpte7i6ely_mondo_relaxed.owl atrial cardiomyopathy with heart block ICD10:I45.5|ICD9:426.6|OMIM:108770|SCTID:450919004|OMIM:615745|Orphanet:1344|UMLS:CN199216 owl:Class NCBITaxon:186625 biolink:NamedThing Clupeocephala tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489341 biolink:NamedThing Osteoglossocephalai tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019075 biolink:NamedThing Bosley-Salih-Alorainy syndrome Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. tmpte7i6ely_mondo_relaxed.owl OMIM:601536|Orphanet:69737|ICD10:Q87.8 owl:Class MONDO:0023581 biolink:NamedThing Kuster syndrome tmpte7i6ely_mondo_relaxed.owl cleft lip and palate, lower lip pits, and limb deficiency defects|cleft lip palate lip pits limb deficiency UMLS:C2931741|MESH:C538126|GARD:0003152 https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome owl:Class MONDO:0045039 biolink:NamedThing systemic basidiobolomycosis tmpte7i6ely_mondo_relaxed.owl disseminated basidiobolomycosis SCTID:240787008|UMLS:C0343967 owl:Class GO:1905084 biolink:NamedThing positive regulation of mitochondrial translational elongation Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation. tmpte7i6ely_mondo_relaxed.owl up-regulation of mitochondrial translation elongation|upregulation of mitochondrial translational elongation|upregulation of mitochondrial translation elongation|activation of mitochondrial translational elongation|up regulation of mitochondrial translation elongation|positive regulation of mitochondrial translation elongation|activation of mitochondrial translation elongation|up regulation of mitochondrial translational elongation|up-regulation of mitochondrial translational elongation owl:Class HGNC:11551 biolink:NamedThing BRF1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001813 biolink:NamedThing construction A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009489 biolink:NamedThing hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma, Norrbotten recessive type|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type|PPK, Gamborg-Nielsen type|PPKNR MESH:C565454|SCTID:717228004|ICD10:Q82.8|Orphanet:86923|OMIM:244850 owl:Class MONDO:0001199 biolink:NamedThing dislocation of ear ossicle Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity. tmpte7i6ely_mondo_relaxed.owl ossicle chain discontinuity|ossicle chain disruption|dislocation of ossicles|ossicle chain disarticulation|ossicular dislocation|dislocation of ear ossicles SCTID:87040007|DOID:11129|ICD9:385.23 owl:Class MONDO:0009829 biolink:NamedThing pallidal degeneration, progressive, with retinitis pigmentosa tmpte7i6ely_mondo_relaxed.owl pallidal degeneration, progressive, with retinitis pigmentosa 2022-04-01 OMIM:260200|MESH:C564910|UMLS:C1850101 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0007132 HP:0007132 owl:Class MONDO:0023255 biolink:NamedThing glossopalatine ankylosis micrognathia ear anomalies tmpte7i6ely_mondo_relaxed.owl GARD:0002495 https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies owl:Class MONDO:0012776 biolink:NamedThing celiac disease, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl celiac disease, susceptibility to, 7|CELIAC7|gluten-sensitive enteropathy, susceptibility to, 7 OMIM:612005 owl:Class NCBITaxon:693766 biolink:NamedThing Anemiaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012171 biolink:NamedThing marfanoid habitus with situs inversus tmpte7i6ely_mondo_relaxed.owl marfanoid habitus with situs inversus MESH:C563814|OMIM:609008|UMLS:C1836994 owl:Class MONDO:0015340 biolink:NamedThing drug rash with eosinophilia and systemic symptoms DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. tmpte7i6ely_mondo_relaxed.owl drug reaction eosinophilic systemic syndrome|dress syndrome MedDRA:10058919|Orphanet:139402|SCTID:702809001|MESH:D063926 owl:Class MONDO:0007883 biolink:NamedThing periodic fever, immunodeficiency, and thrombocytopenia syndrome tmpte7i6ely_mondo_relaxed.owl lazy leukocyte syndrome SCTID:71436005|ICD9:288.09|UMLS:C0272174|MESH:C562721|OMIM:150550 owl:Class MONDO:0015702 biolink:NamedThing T-B+ severe combined immunodeficiency due to CD45 deficiency tmpte7i6ely_mondo_relaxed.owl CD45 deficiency|T-B+ SCID due to CD45 deficiency OMIM:608971|Orphanet:169157|DOID:0060014|ICD10:D81.2|UMLS:C1837028 owl:Class GO:0031670 biolink:NamedThing cellular response to nutrient Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0031669 biolink:NamedThing cellular response to nutrient levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1990204 biolink:NamedThing oxidoreductase complex Any protein complex that possesses oxidoreductase activity. tmpte7i6ely_mondo_relaxed.owl oxidation-reduction complex|redox complex owl:Class MONDO:0014281 biolink:NamedThing cholangiocarcinoma, susceptibility to tmpte7i6ely_mondo_relaxed.owl cholangiocarcinoma, susceptibility to|Chlc, susceptibility to Orphanet:70567|OMIM:615619 owl:Class MONDO:0013319 biolink:NamedThing chromosome 4Q32.1-q32.2 triplication syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 4Q32.1-q32.2 triplication syndrome OMIM:613603|UMLS:C3150857 owl:Class MONDO:0016955 biolink:NamedThing partial duplication of the long arm of chromosome 4 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl 4q trisomy|partial duplication of the long arm of chromosome type 4|partial trisomy 4q|partial trisomy distal 4q|partial trisomy of the long arm of chromosome 4|chromosome 4, partial trisomy 4q|Duplication 4q syndrome, partial|partial duplication of chromosome 4q|partial trisomy of chromosome 4q|chromosome 4q duplication|Duplication 4q|distal 4q trisomy|trisomy 4q|dup(4q) syndrome, partial|4q duplication|partial trisomy 4q syndrome GARD:0005347|UMLS:C0795812|MESH:C537644|ICD10:Q92.3|Orphanet:262860|DOID:0111159 owl:Class CHEBI:59999 biolink:NamedThing chemical substance A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. tmpte7i6ely_mondo_relaxed.owl Chemische Substanz owl:Class MONDO:0008088 biolink:NamedThing neuropathy, with paraprotein in serum, cerebrospinal fluid and urine tmpte7i6ely_mondo_relaxed.owl neuropathy, with paraprotein in serum, cerebrospinal fluid and urine UMLS:C1834180|MESH:C563516|OMIM:162600 owl:Class MONDO:0034146 biolink:NamedThing spastic ataxia-dysarthria due to glutaminase deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:557056 owl:Class MONDO:0002959 biolink:NamedThing radiculopathy Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. tmpte7i6ely_mondo_relaxed.owl nerve root disorder DOID:4306|ICD10:M54.10|UMLS:C0700594|MESH:D011843|SCTID:72274001|ICD10:M54.1 Editor note: DO classifies under polyradiculopathy, which we invert owl:Class HGNC:2889 biolink:NamedThing DISC2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002313 biolink:NamedThing mature B cell differentiation involved in immune response The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response. tmpte7i6ely_mondo_relaxed.owl mature B cell differentiation during immune response|mature B-cell differentiation during immune response|mature B cell development involved in immune response|mature B-lymphocyte differentiation during immune response|mature B lymphocyte differentiation during immune response owl:Class GO:0002335 biolink:NamedThing mature B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. tmpte7i6ely_mondo_relaxed.owl mature B-lymphocyte differentiation|mature cell development|mature B-cell differentiation|mature B lymphocyte differentiation owl:Class CHEBI:50902 biolink:NamedThing genotoxin A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells. tmpte7i6ely_mondo_relaxed.owl genotoxins|genotoxic agents|genotoxic agent owl:Class MONDO:0008634 biolink:NamedThing urticaria, familial localized heat tmpte7i6ely_mondo_relaxed.owl urticaria, familial localized heat MESH:C566011|UMLS:C1860551|OMIM:191950 owl:Class MONDO:0011314 biolink:NamedThing Graves disease, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl Graves disease, susceptibility to, 2|Grd2|Graves disease, susceptibility to, type 2 OMIM:603388 owl:Class MONDO:0012603 biolink:NamedThing episodic kinesigenic dyskinesia 2 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1. tmpte7i6ely_mondo_relaxed.owl episodic kinesigenic dyskinesia type 2|EKD2|episodic kinesigenic dyskinesia 2|dystonia 19 ICD10:G24.8|UMLS:C1970238|MESH:C567026|Orphanet:98809|DOID:0090054|OMIM:611031 owl:Class GO:0016469 biolink:NamedThing proton-transporting two-sector ATPase complex A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. tmpte7i6ely_mondo_relaxed.owl vacuolar hydrogen-transporting ATPase|hydrogen-transporting two-sector ATPase complex owl:Class CL:0002489 biolink:NamedThing double negative thymocyte A thymocyte that lacks expression of CD4 and CD8. tmpte7i6ely_mondo_relaxed.owl CD4-CD8- T cell|double negative T cell These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. tmeehan 2010-12-06T03:03:38Z cell owl:Class MONDO:0006968 biolink:NamedThing shoulder impingement syndrome Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed) tmpte7i6ely_mondo_relaxed.owl subacromial impingement|Impingement syndrome of shoulder region|shoulder impingement syndrome (disorder) [ambiguous] MESH:D019534|SCTID:202849001|ICD9:726.2|UMLS:C0376685|DOID:14276|MedDRA:10049039|EFO:1001178|ICD10:M75.4 owl:Class MONDO:0012227 biolink:NamedThing myopia 7 tmpte7i6ely_mondo_relaxed.owl myopia 7|MYP7 OMIM:609256|UMLS:C1836506|MESH:C563761 owl:Class MONDO:0019784 biolink:NamedThing 12q14 microdeletion syndrome 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. tmpte7i6ely_mondo_relaxed.owl osteopoikilosis-short stature-intellectual disability syndrome|deletion 12q14|Del(12)(q14)|monosomy 12q14 UMLS:CN206727|SCTID:719046005|Orphanet:94063|ICD10:Q93.5|GARD:0013390|UMLS:C4305140 https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome owl:Class GO:0032811 biolink:NamedThing negative regulation of epinephrine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of epinephrine. tmpte7i6ely_mondo_relaxed.owl down regulation of epinephrine secretion|inhibition of epinephrine secretion|negative regulation of adrenaline secretion|downregulation of epinephrine secretion|down-regulation of epinephrine secretion owl:Class MONDO:0007217 biolink:NamedThing brachydactyly type A3 tmpte7i6ely_mondo_relaxed.owl brachydactyly-clinodactyly|Brachymesophalangy 5|brachydactyly, type A3|brachymesophalangy V|BDA3 MESH:C537090|UMLS:C1862140|OMIM:112700|GARD:0000963|DOID:0110966|Orphanet:93393 https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3 owl:Class UBERON:0000093 biolink:NamedThing sulcus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017649 biolink:NamedThing hemidystonia-hemiatrophy syndrome Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. tmpte7i6ely_mondo_relaxed.owl HD-HA syndrome UMLS:CN203542|Orphanet:306741 owl:Class MONDO:0022824 biolink:NamedThing congenital craniosynostosis maternal hyperthyroiditis tmpte7i6ely_mondo_relaxed.owl GARD:0001478 https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis owl:Class MONDO:0002100 biolink:NamedThing cardiovascular cancer A primary or metastatic malignant neoplasm involving the cardiovascular system. tmpte7i6ely_mondo_relaxed.owl cardiovascular tumors|malignant cardiovascular system neoplasm|cardiovascular system cancer|cancer of cardiovascular system|malignant neoplasm of cardiovascular system|malignant cardiovascular neoplasm|cardiovascular neoplasm DOID:176|NCIT:C4784|NCIT:C114940|UMLS:C0497243|UMLS:C3898472 owl:Class GO:0016831 biolink:NamedThing carboxy-lyase activity Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. tmpte7i6ely_mondo_relaxed.owl decarboxylase activity owl:Class MONDO:0033669 biolink:NamedThing Noonan syndrome 13 tmpte7i6ely_mondo_relaxed.owl NS13 OMIM:619087 owl:Class MONDO:0014037 biolink:NamedThing spermatogenic failure 11 Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 11|spermatogenic failure type 11|azoospermia caused by mutation in KLHL10|KLHL10 azoospermia|SPGF11 OMIM:615081|UMLS:C3554453|DOID:0070180 owl:Class GO:0098542 biolink:NamedThing defense response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. tmpte7i6ely_mondo_relaxed.owl resistance response to pathogen|defence response incompatible interaction|defence response to pathogen, incompatible interaction|defense response, incompatible interaction owl:Class NCBITaxon:53550 biolink:NamedThing Culicini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43817 biolink:NamedThing Culicinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002672 biolink:NamedThing acinar prostate adenocarcinoma, signet ring variant A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells. tmpte7i6ely_mondo_relaxed.owl signet Ring cell carcinoma of the prostate|signet Ring cell carcinoma of prostate|prostate signet Ring cell carcinoma|prostate gland signet ring cell carcinoma|prostate signet ring cell carcinoma|prostate signet ring cell adenocarcinoma|acinar prostate adenocarcinoma, signet Ring variant NCIT:C5535|DOID:3504|UMLS:C1335520 owl:Class MONDO:0009143 biolink:NamedThing Meier-Gorlin syndrome 1 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene. tmpte7i6ely_mondo_relaxed.owl Ear, patella, short stature syndrome|Meier-Gorlin syndrome|MGORS1|microtia, absent patellae, micrognathia syndrome|Meier-Gorlin syndrome type 1|Meier-GORLIN syndrome 1|Meier-Gorlin syndrome 1|Meier-Gorlin syndrome caused by mutation in ORC1|ORC1 Meier-Gorlin syndrome OMIM:224690|Orphanet:2554|UMLS:CN030358|ICD9:759.89|SCTID:703508009|DOID:0080512 owl:Class HGNC:31582 biolink:NamedThing MIR204 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012663 biolink:NamedThing Plasmodium falciparum fever episodes quantitative trait locus 1 tmpte7i6ely_mondo_relaxed.owl malaria fever episodes quantitative trait locus 1|Pffe1|Plasmodium falciparum fever episodes quantitative trait locus type 1|Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 Editor note consider obsoleting owl:Class MONDO:0012185 biolink:NamedThing spondylometaphyseal dysplasia, A4 type tmpte7i6ely_mondo_relaxed.owl spondylometaphyseal dysplasia A4 type|spondylometaphyseal dysplasia type A4|spondylometaphyseal dysplasia, type A4 OMIM:609052|Orphanet:168555|GARD:0000458|MESH:C563803|UMLS:C1836862|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4 owl:Class HGNC:23287 biolink:NamedThing ETHE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008127 biolink:NamedThing ophthalmomandibulomelic dysplasia Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. tmpte7i6ely_mondo_relaxed.owl OMM syndrome|Ophthalmo-mandibulo-melic dysplasia|ophthalmomandibulomelic dysplasia|Pillay syndrome MESH:C563501|ICD10:Q87.8|OMIM:164900|GARD:0004365|SCTID:715484003|Orphanet:2741|UMLS:C1833872 owl:Class HGNC:11117 biolink:NamedThing SMN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100294 biolink:NamedThing mitochondrial complex II deficiency, nuclear type 1 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex II deficiency|isolated succinate-ubiquinone reductase deficiency|isolated succinate-CoQ reductase deficiency|mitochondrial complex II deficiency, nuclear type 1|mitochondrial respiratory chain complex II deficiency|isolated mitochondrial respiratory chain complex II deficiency|complex 2 mitochondrial respiratory chain deficiency|succinate dehydrogenase deficiency|mitochondrial complex 2 deficiency|succinate CoQ reductase deficiency|isolated succinate-coenzyme Q reductase deficiency MESH:C565375|Orphanet:3208|DOID:0060537|SCTID:124165006|OMIM:252011|ICD10:G71.3|GARD:0005053|ICD9:277.6 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency owl:Class MONDO:0012121 biolink:NamedThing otosclerosis 5 tmpte7i6ely_mondo_relaxed.owl OTSC5|otosclerosis 5 OMIM:608787|UMLS:C1837422|MESH:C563858 owl:Class GO:0046717 biolink:NamedThing acid secretion The controlled release of acid by a cell or a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018952 biolink:NamedThing argyria Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). tmpte7i6ely_mondo_relaxed.owl Silver staining ICD10:T56.8|MedDRA:10003094|Orphanet:60014|MESH:D001129 owl:Class MONDO:0025087 biolink:NamedThing classical swine fever An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality. tmpte7i6ely_mondo_relaxed.owl cholera, Hog|swine fever, classical|Hog cholera|swine fever MESH:D006691|UMLS:C0019841 owl:Class MONDO:0005717 biolink:NamedThing contagious pustular dermatitis An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. tmpte7i6ely_mondo_relaxed.owl thistle disease|scabby mouth|Orf|sheep pox|ecthyma contagiosum|ecthyma, Contagious SCTID:74050005|UMLS:C0013570|MESH:D004474|DOID:8771|ICD10:B08.02|EFO:0007222|ICD9:051.2 owl:Class MONDO:0002246 biolink:NamedThing perichondritis of auricle An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. tmpte7i6ely_mondo_relaxed.owl perichondritis of pinna|perichondritis of pinna, unspecified|perichondritis and chondritis of pinna ICD10:H61.00|ICD9:380.00|ICD9:380.0|DOID:222|SCTID:34129005|UMLS:C0155389|ICD10:H61.009|ICD10:H61.0 owl:Class GO:0002269 biolink:NamedThing leukocyte activation involved in inflammatory response A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response. tmpte7i6ely_mondo_relaxed.owl leukocyte activation during inflammatory response|immune cell activation during inflammatory response owl:Class GO:0052803 biolink:NamedThing imidazole-containing compound metabolic process The chemical reactions and pathways involving imidazoles, five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton. tmpte7i6ely_mondo_relaxed.owl imidazole metabolism owl:Class CHEBI:76807 biolink:NamedThing EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). tmpte7i6ely_mondo_relaxed.owl non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|EC 3.5.1.* inhibitor|EC 3.5.1.* inhibitors owl:Class MONDO:0008559 biolink:NamedThing thrombophilia due to thrombin defect The formation of a blood clot (thrombus) in the lumen of a vein. tmpte7i6ely_mondo_relaxed.owl factor II-related thrombophilia|thrombophilia due to thrombin defect|thrombosis, protection against|prothrombin 20210G>A thrombophilia|prothrombin thrombophilia|hyperprothrombinemia|venous thrombosis|thrombophilia due to Factor 2 defect|THPH1|Venous thromboembolism|prothrombin-related thrombophilia|prothrombin G20210A thrombophilia UMLS:C0398623|SCTID:111293003|OMIM:188050|GARD:0010815|ICD9:453.9 owl:Class MONDO:0006246 biolink:NamedThing high grade surface osteosarcoma A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. tmpte7i6ely_mondo_relaxed.owl high grade surface osteosarcoma|high-grade surface osteosarcoma ICDO:9194/3|EFO:1000296|NCIT:C53958|UMLS:C1266165|ONCOTREE:HGSOS owl:Class MONDO:0017441 biolink:NamedThing congenital absence of upper arm and forearm with hand present A congenital malformation in which the upper portion of a limb is either shortened or absent. tmpte7i6ely_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia|phocomelia GARD:0012123|NCIT:C34928|SCTID:22841008|Orphanet:294975|ICD10:Q71.1 owl:Class HP:0002248 biolink:NamedThing Hematemesis The vomiting of blood. tmpte7i6ely_mondo_relaxed.owl Vomitting blood MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926 The source of hematemesis is generally the upper gastrointestinal tract. human_phenotype owl:Class MONDO:0034127 biolink:NamedThing IgA pemphigus tmpte7i6ely_mondo_relaxed.owl Orphanet:555905 owl:Class GO:1905881 biolink:NamedThing positive regulation of oogenesis Any process that activates or increases the frequency, rate or extent of oogenesis. tmpte7i6ely_mondo_relaxed.owl up regulation of oogenesis|activation of oogenesis|upregulation of ovum development|up regulation of ovum development|upregulation of oogenesis|up-regulation of oogenesis|positive regulation of ovum development|activation of ovum development|up-regulation of ovum development owl:Class MONDO:0007424 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 1 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 1|deafness, progressive Low tone|hereditary Low frequency hearing loss|hereditary low frequency hearing loss 1|DFNA1|autosomal dominant deafness 1|autosomal dominant nonsyndromic deafness 1|LFHL1|Konigsmark syndrome|deafness, autosomal dominant type 1|deafness, autosomal dominant 1, with or without thrombocytopenia|autosomal dominant nonsyndromic deafness type 1|DIAPH1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1 UMLS:C1852282|DOID:0110541|ICD10:H90.3|MESH:C565121|OMIM:124900 owl:Class MONDO:0001935 biolink:NamedThing neurogenic arthropathy Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl neuropathic arthropathy|arthropathy associated with neurological disorder|neuropathic arthropathy (& Charcot's)|Charcot's arthropathy|Charcot's joint DOID:14286|UMLS:C0003892|SCTID:359554008|MESH:D001177|ICD10:M14.6|ICD9:713.5|EFO:1001378 owl:Class MONDO:0018714 biolink:NamedThing primary intralymphatic angioendothelioma An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation. tmpte7i6ely_mondo_relaxed.owl Dabska tumor|papillary intralymphatic angioendothelioma|malignant endothelial papillary angioendothelioma|pila|papillary Endovascular angioendothelioma ICDO:9135/1|UMLS:CN242194|ICD10:D18.0|NCIT:C7526|Orphanet:458768 owl:Class MONDO:0002191 biolink:NamedThing syringoma A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis. tmpte7i6ely_mondo_relaxed.owl eccrine syringoma|syringoma UMLS:C0206673|DOID:2065|NCIT:C3761|SCTID:302828001|GARD:0010547|ICDO:8407/0|MESH:D018252 owl:Class HP:0002269 biolink:NamedThing Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. tmpte7i6ely_mondo_relaxed.owl Heterotopias/abnormal migration|Neuronal migration disorder|Migrational brain disorder|Abnormal neuronal migration UMLS:C1837249|MSH:D054081 HP:0007317 human_phenotype owl:Class NCBITaxon:314293 biolink:NamedThing Simiiformes tmpte7i6ely_mondo_relaxed.owl Anthropoidea GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009611 biolink:NamedThing midbrain neural plate tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015692 biolink:NamedThing refractory anemia with excess blasts in transformation Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. tmpte7i6ely_mondo_relaxed.owl RAEB-t UMLS:C0002894|Orphanet:168960|ICD10:D46.3|ICD9:238.73|SCTID:110000005|UMLS:C0280028|MedDRA:10038271|NCIT:C27080|UMLS:CN200189|ICDO:9984/3 owl:Class MONDO:0700040 biolink:NamedThing neonatal jaundice due to ABO incompatibility Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility. tmpte7i6ely_mondo_relaxed.owl SCTID:16716281000119108 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/4480 owl:Class NCBITaxon:1933264 biolink:NamedThing California encephalitis orthobunyavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11572 biolink:NamedThing Orthobunyavirus tmpte7i6ely_mondo_relaxed.owl Bunyaviruses|Bunyavirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:782 biolink:NamedThing Rickettsia prowazekii tmpte7i6ely_mondo_relaxed.owl PMID:15879256|GC_ID:11 ncbi_taxonomy owl:Class ENVO:01000309 biolink:NamedThing cold environment An environment which has a lower temperature than some local or global average. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021233 biolink:NamedThing ear neoplasm A neoplasm (disease) that involves the ear. tmpte7i6ely_mondo_relaxed.owl ear neoplasm (disease)|neoplasm of Ear|tumor of the Ear|neoplasm of ear|tumor of ear|Ear tumor|ear tumor|Ear neoplasms|neoplasm of the Ear|tumor of Ear NCIT:C3000 owl:Class HGNC:8965 biolink:NamedThing PIGK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010599 biolink:NamedThing granulomas, congenital cerebral tmpte7i6ely_mondo_relaxed.owl congenital cerebral granulomas|granulomas, congenital cerebral UMLS:C1844406|MESH:C537294|OMIM:306300|GARD:0008368 https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral owl:Class MONDO:0008376 biolink:NamedThing retinal venous beading tmpte7i6ely_mondo_relaxed.owl retinal venous beading OMIM:180080 owl:Class CL:0002265 biolink:NamedThing type D cell of colon A D cell located in the colon. tmpte7i6ely_mondo_relaxed.owl colon D-cell|colonic delta cell|delta cell of colon FMA:268744 tmeehan 2010-09-10T11:37:35Z cell owl:Class MONDO:0032880 biolink:NamedThing developmental and epileptic encephalopathy, 82 tmpte7i6ely_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82|EIEE82|Got2 Deficiency|epileptic encephalopathy, early infantile, 82|DEE82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of OMIM:618721 owl:Class UBERON:0003532 biolink:NamedThing hindlimb skin tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024252 biolink:NamedThing global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:488613 owl:Class MONDO:0002034 biolink:NamedThing cecum lymphoma An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. tmpte7i6ely_mondo_relaxed.owl lymphoma of caecum|lymphoma of cecum|cecal lymphoma|cecum lymphoma|lymphoma of the cecum|caecum lymphoma|primary cecum lymphoma DOID:1522|UMLS:C1332867|NCIT:C5515 owl:Class NCBITaxon:171549 biolink:NamedThing Bacteroidales tmpte7i6ely_mondo_relaxed.owl PMID:28905708|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:200643 biolink:NamedThing Bacteroidia tmpte7i6ely_mondo_relaxed.owl Bacteroidetes GC_ID:11 ncbi_taxonomy owl:Class NBO:0000347 biolink:NamedThing gross motor coordination "The coordination of large muscle groups and whole body movement." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl whole body coordination|large muscle coordination owl:Class HP:0007556 biolink:NamedThing Plantar hyperkeratosis Hyperkeratosis affecting the sole of the foot. tmpte7i6ely_mondo_relaxed.owl Plantar hyperkeratoses UMLS:C1856954 HP:0007382|HP:0007445 human_phenotype owl:Class MONDO:0023203 biolink:NamedThing Fuchs atrophia gyrata chorioideae et retinae tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001053 biolink:NamedThing acute infection of pinna An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. tmpte7i6ely_mondo_relaxed.owl SCTID:56663002|ICD9:380.11|UMLS:C0155392|DOID:10520 owl:Class MONDO:0033839 biolink:NamedThing osteoradionecrosis of the mandible tmpte7i6ely_mondo_relaxed.owl Orphanet:521127 owl:Class CL:0009031 biolink:NamedThing T cell of appendix A T cell that is located in a vermiform appendix. tmpte7i6ely_mondo_relaxed.owl T cell of vermiform appendix|T cell of appendix vermiformis|appendix T cell owl:Class MONDO:0009258 biolink:NamedThing classic galactosemia Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. tmpte7i6ely_mondo_relaxed.owl Galt deficiency|GALT deficiency|galactosemia, Duarte variant|galactosemia|galactose-1-phosphate uridylyltransferase deficiency|classic galactosemia|galactosemia type 1|galactosemia, classic|galactose-1-phosphate uridyltransferase deficiency|classical galactosemia, homozygous duarte-type SCTID:10899004|Orphanet:352|ICD10:E74.2|DOID:0111459|Orphanet:79239|OMIM:230400 owl:Class HGNC:9330 biolink:NamedThing PQBP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019881 biolink:NamedThing distal trisomy 6q Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. tmpte7i6ely_mondo_relaxed.owl trisomy 6qter|distal duplication 6q|telomeric duplication 6q|distal trisomy type 6q MESH:C537810|ICD10:Q92.3|SCTID:763275001|Orphanet:96098 owl:Class GO:0014070 biolink:NamedThing response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpte7i6ely_mondo_relaxed.owl response to organic cyclic substance owl:Class CHEBI:60911 biolink:NamedThing racemate A racemate is an equimolar mixture of a pair of enantiomers. tmpte7i6ely_mondo_relaxed.owl melange racemique|racemates|racemic mixture owl:Class GO:0008144 biolink:NamedThing drug binding Binding to a drug, a naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism;typically used in the diagnosis, prevention, or treatment of disease. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:4564 biolink:NamedThing Triticum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033201 biolink:NamedThing hearing loss, autosomal recessive 57 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 57|DFNB57 DOID:0111635|OMIM:618003|UMLS:CN248511 owl:Class GO:0010911 biolink:NamedThing regulation of isomerase activity Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013026 biolink:NamedThing subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. tmpte7i6ely_mondo_relaxed.owl SMCD|corneal dystrophy, subepithelial mucinous|subepithelial mucinous corneal dystrophy MESH:C567547|OMIM:612867|SCTID:723582004|Orphanet:98959|DOID:0060454|UMLS:C2748503|ICD10:H18.5 owl:Class MONDO:0005574 biolink:NamedThing tauopathy Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. tmpte7i6ely_mondo_relaxed.owl MESH:D024801|EFO:0005815|DOID:680|UMLS:C0949664 owl:Class MONDO:0016445 biolink:NamedThing familial anetoderma Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. tmpte7i6ely_mondo_relaxed.owl hereditary anetoderma|hereditary macular atrophy SCTID:733467001|UMLS:C4518793|ICD10:L90.8|Orphanet:228277|UMLS:CN226934 owl:Class HGNC:24247 biolink:NamedThing GLYCTK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002799 biolink:NamedThing nodular medulloblastoma A medulloblastoma characterized by nodularity and neuronal differentiation. tmpte7i6ely_mondo_relaxed.owl UMLS:C1334970|DOID:3873|NCIT:C5407 owl:Class CL:0000853 biolink:NamedThing olfactory epithelial support cell Olfactory epithelial support cell is a columnar cell that extends from the epithelial free margin to the basement membrane of the olfactory epithelium. This cell type has a large, vertically, elongate, euchromatic nucleus, along with other nuclei, forms a layer superficial to the cell body of the receptor cell; sends long somewhat irregular microvilli into the mucus layer; at the base, with expanded end-feet containing numerous lamellated dense bodies resembling lipofuscin of neurons. tmpte7i6ely_mondo_relaxed.owl supporting cell of olfactory epithelium|sustentaculocyte of olfactory epithelium|olfactory sustentacular cell FMA:62302 cell owl:Class SO:0001507 biolink:NamedThing variant_collection A collection of one or more sequences of an individual. tmpte7i6ely_mondo_relaxed.owl variant collection owl:Class SO:0001260 biolink:NamedThing sequence_collection A collection of discontinuous sequences. tmpte7i6ely_mondo_relaxed.owl sequence collection owl:Class MONDO:0008298 biolink:NamedThing postaxial tetramelic oligodactyly Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl postaxial oligodactyly, tetramelic|oligodactyly tetramelic postaxial Orphanet:2730|UMLS:C1867924|ICD10:Q73.8|OMIM:176240|MESH:C566767|GARD:0004065 https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial owl:Class GO:0042487 biolink:NamedThing regulation of odontogenesis of dentin-containing tooth Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpte7i6ely_mondo_relaxed.owl regulation of odontogenesis of dentine-containing tooth|regulation of odontogenesis of dentine-containing teeth owl:Class MONDO:0008242 biolink:NamedThing photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction tmpte7i6ely_mondo_relaxed.owl hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome MESH:C538113|SCTID:237612000|OMIM:172500|UMLS:C1809475|ICD9:583.9|GARD:0009267 owl:Class UBERON:0007592 biolink:NamedThing ciliated columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009970 biolink:NamedThing renal tubular dysgenesis of genetic origin An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl RTD|genetic renal tubular dysgenesis|primitive renal tubule syndrome|renal tubular dysgenesis of genetic origin|renal tubular dysgenesis|renal tubular dysgenesis with choanal atresia and athelia Orphanet:97369|Orphanet:3033|OMIM:267430|ICD10:Q63.8 owl:Class MONDO:0015640 biolink:NamedThing benign infantile seizures associated with mild gastroenteritis Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. tmpte7i6ely_mondo_relaxed.owl Orphanet:166305|SCTID:765756007 owl:Class GO:0099568 biolink:NamedThing cytoplasmic region Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008460 biolink:NamedThing splenogonadal fusion-limb defects-micrognathia syndrome Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. tmpte7i6ely_mondo_relaxed.owl splenogonadal fusion with limb defects and micrognathia|splenogonadal fusion limb defect syndrome|Sgfld syndrome|SGFLD syndrome|splenogonadal fusion limb defects syndrome|splenogonadal fusion limb defects micrognatia GARD:0004963|SCTID:726724005|OMIM:183300|UMLS:C1866745|ICD10:Q87.8|Orphanet:2063|MESH:C537318 owl:Class UBERON:0011342 biolink:NamedThing surface of mandible tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001985 biolink:NamedThing frozen A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002020 biolink:NamedThing GlyA-positive reticulocytes A reticulocyte that is GlyA-positive. tmpte7i6ely_mondo_relaxed.owl Markers is associated with human cells. tmeehan 2010-04-26T11:48:25Z cell owl:Class MONDO:0018883 biolink:NamedThing Berardinelli-Seip congenital lipodystrophy A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. tmpte7i6ely_mondo_relaxed.owl lipoatrophic diabetes|Lawrence-Seip syndrome|Beradinelli-Seip syndrome|BSCL|Seip-Bernardinelli syndrome|GCL|generalized congenital lipodystrophy|Brunzell syndrome|congenital Generalized lipodystrophy|Berardinelli Seip syndrome|Berardinelli lipodystrophy syndrome|total lipodystrophy ICD9:250.80|MedDRA:10024603|ICD10:E88.1|OMIM:269700|Orphanet:528|OMIM:612526|NCIT:C84594|OMIM:608594 owl:Class ENVO:09000005 biolink:NamedThing amount of carbon atom in soil The amount of a carbon atom when measured in soil. tmpte7i6ely_mondo_relaxed.owl soil carbon atom amount owl:Class MONDO:0029144 biolink:NamedThing extraoral halitosis due to methanethiol oxidase deficiency tmpte7i6ely_mondo_relaxed.owl METHANETHIOL Oxidase Deficiency|extraoral halitosis with dimethylsulfoxiduria|EHMTO|EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY|MTO Deficiency OMIM:618148 owl:Class MONDO:0015403 biolink:NamedThing non-involuting congenital hemangioma Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute). tmpte7i6ely_mondo_relaxed.owl NICH|noninvoluting congenital hemangioma SCTID:703295003|Orphanet:141179|GARD:0010890|ICD10:D18.0|UMLS:C1275417 https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma owl:Class MONDO:0018715 biolink:NamedThing congenital hemangioma A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). tmpte7i6ely_mondo_relaxed.owl congenital angioma|congenital hemangioma SCTID:32361000119104|NCIT:C3841|UMLS:C0235753|Orphanet:458775 Editor note: this is distinct from inflantile hemangioma owl:Class HGNC:2345 biolink:NamedThing CREB1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:4081 biolink:NamedThing Solanum lycopersicum tmpte7i6ely_mondo_relaxed.owl Lycopersicon esculentum|Lycopersicon esculentum var. esculentum|Solanum lycopersicum var. humboldtii|Solanum esculentum|tomato GC_ID:1 NCBITaxon:195582 ncbi_taxonomy owl:Class UBERON:0003524 biolink:NamedThing tail blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018137 biolink:NamedThing temperature-sensitive oculocutaneous albinism type 1 Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). tmpte7i6ely_mondo_relaxed.owl TS OCA type 1|OCA1-TS ICD10:E70.3|Orphanet:352737|OMIM:606952|UMLS:C1847132 owl:Class MONDO:0007289 biolink:NamedThing cataract 13 with adult I phenotype A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. tmpte7i6ely_mondo_relaxed.owl cataract 13 with adult I phenotype|CTRCT13|cataract 13 with ADULT I phenotype Orphanet:91492|OMIM:116700|ICD10:Q12.0|DOID:0110242|UMLS:C3805373 Not in the OMIM series. owl:Class MONDO:0004221 biolink:NamedThing uterine corpus perivascular epithelioid cell tumor A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall. tmpte7i6ely_mondo_relaxed.owl uterine corpus perivascular epithelioid cell tumor|uterine corpus PEComa|uterine perivascular epithelioid cell tumor|body of uterus neoplasm with perivascular epithelioid cell differentiation|uterus perivascular epithelioid cell tumor UMLS:C1519862|DOID:7437|NCIT:C40180|ONCOTREE:UPECOMA owl:Class MONDO:0017927 biolink:NamedThing severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. tmpte7i6ely_mondo_relaxed.owl ICD10:Q68.4|UMLS:CN204066|Orphanet:324307|SCTID:766819001 owl:Class MONDO:0010224 biolink:NamedThing corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed. tmpte7i6ely_mondo_relaxed.owl New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|Proud-Levine-Carpenter syndrome|Proud syndrome|corpus callosum, agenesis of, with abnormal genitalia|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud Levine Carpenter syndrome|ACC with abnormal genitalia|ACC-abnormal genitalia syndrome MESH:C563110|UMLS:C0796124|ICD10:Q87.8|Orphanet:2508|GARD:0004528|OMIM:300004|SCTID:763797003 owl:Class GO:0007288 biolink:NamedThing sperm axoneme assembly The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005003 biolink:NamedThing mucosa of left hepatic duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015590 biolink:NamedThing classic paraneoplastic limbic encephalitis Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed. tmpte7i6ely_mondo_relaxed.owl classic paraneoplastic limbic encephalitis, with or without intracellular antigens ICD10:G13.1|Orphanet:163898 owl:Class MONDO:0012443 biolink:NamedThing aneurysm, intracranial berry, 4 tmpte7i6ely_mondo_relaxed.owl ANIB4|aneurysm, intracranial BERRY, 4 OMIM:610213|UMLS:C1857749|MESH:C565700 owl:Class GO:0045642 biolink:NamedThing positive regulation of basophil differentiation Any process that activates or increases the frequency, rate or extent of basophil differentiation. tmpte7i6ely_mondo_relaxed.owl up regulation of basophil differentiation|upregulation of basophil differentiation|stimulation of basophil differentiation|up-regulation of basophil differentiation|activation of basophil differentiation owl:Class MONDO:0006281 biolink:NamedThing lung signet ring cell carcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells. tmpte7i6ely_mondo_relaxed.owl signet ring lung adenocarcinoma|lung signet ring cell carcinoma DOID:0080305|EFO:1000338|ICD9:162.9|SCTID:707407001|NCIT:C45514 owl:Class MONDO:0021473 biolink:NamedThing benign neoplasm of epididymis A benign neoplasm that involves the epididymis. tmpte7i6ely_mondo_relaxed.owl benign tumor of the epididymis|benign epididymal neoplasm|epididymis benign neoplasm|benign tumor of epididymis|benign epididymal tumor|benign neoplasm of the epididymis NCIT:C3614|SCTID:92088003|UMLS:C0154010|ICD9:222.3 owl:Class MONDO:0003283 biolink:NamedThing epididymal neoplasm A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl neoplasm of epididymis|epididymal neoplasm|epididymis tumor|tumor of epididymis|epididymis neoplasm|neoplasm of epididymus|epididymis neoplasm (disease) NCIT:C39958|DOID:512|UMLS:C0346239|ICD9:239.5|SCTID:126902008 owl:Class MONDO:0002937 biolink:NamedThing nodular basal cell carcinoma A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma, nodular|skin nodulo-ulcerative basal cell carcinoma|circumscribed solid basal cell carcinoma|basal cell carcinoma, nodular (morphologic abnormality)|Nodulo-ulcerative basal cell carcinoma|Rodent Ulcer|skin solid (nodular) basal cell carcinoma UMLS:C1304300|DOID:4280|SCTID:403910009|NCIT:C5568 owl:Class GO:0008443 biolink:NamedThing phosphofructokinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008424 biolink:NamedThing sella turcica, bridged tmpte7i6ely_mondo_relaxed.owl sella turcica, bridged OMIM:182200|MESH:C566689 owl:Class MONDO:0011527 biolink:NamedThing Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. tmpte7i6ely_mondo_relaxed.owl neuropathy, congenital hypomyelinating, 1|Charcot-Marie-Tooth neuropathy, type 4E|Charcot-Marie-Tooth disease type 4E|congenital hypomyelination neuropathy|autosomal recessive congenital hypomyelinating neuropathy|CMT 4E|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive|autosomal recessive congenital hypomyelinating or amyelinating neuropathy|congenital hypomyelinating neuropathy (CHN)|CHN|Charcot-Marie-Tooth disease, type 4E|CMT4E|neuropathy, congenital hypomyelinating|hypomyelination, Severe congenital|CHN1|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE|Charcot-Marie-Tooth neuropathy type 4E|Charcot Marie Tooth disease type 4E|neuropathy, congenital hypomyelinating, autosomal dominant GARD:0006170|OMIM:605253|Orphanet:99951|MESH:C535301|DOID:0110195|SCTID:763135001|ICD10:G60.0|GARD:0009203 Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy owl:Class CL:0001033 biolink:NamedThing hippocampal granule cell Granule cell that is part of the hippocampus. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0000997 biolink:NamedThing monocular esotropia A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. tmpte7i6ely_mondo_relaxed.owl ICD9:378.01|SCTID:5455000|ICD10:H50.01|MESH:D004948|DOID:10293|UMLS:C0152204 owl:Class MONDO:0017548 biolink:NamedThing humero-radio-ulnar synostosis, unilateral tmpte7i6ely_mondo_relaxed.owl humero-radio-ulnar fusion, unilateral ICD10:Q74.0|Orphanet:295205 owl:Class HGNC:11022 biolink:NamedThing SLC35A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004267 biolink:NamedThing squamous papillomatosis A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site. tmpte7i6ely_mondo_relaxed.owl squamous papillomatosis ICDO:8060/0|DOID:7532|NCIT:C9009|UMLS:C1378340 owl:Class MONDO:0023657 biolink:NamedThing intellectual developmental disorder, autosomal dominant 65 tmpte7i6ely_mondo_relaxed.owl MRD65|mental retardation, autosomal dominant 65 OMIM:619320 owl:Class MONDO:0007992 biolink:NamedThing microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. tmpte7i6ely_mondo_relaxed.owl hereditary microcornea, glaucoma, and absent frontal sinuses|microcornea, glaucoma, and absent frontal sinuses ICD10:Q15.8|GARD:0003637|OMIM:156700|Orphanet:2536|UMLS:C1834935|MESH:C537552 owl:Class MONDO:0014476 biolink:NamedThing episodic ataxia type 8 tmpte7i6ely_mondo_relaxed.owl EA8|episodic ataxia type 8|episodic ataxia with slurred speech|episodic ataxia, type 8 Orphanet:401953|DOID:0050996|OMIM:616055|UMLS:C4015108|ICD10:G11.8 owl:Class HGNC:21176 biolink:NamedThing RMND1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018551 biolink:NamedThing patent urachus Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. tmpte7i6ely_mondo_relaxed.owl patent urachus (disease)|patent urachus patent urachus (disease) ICD10:Q64.4|NCIT:C99005|SCTID:398316009|Orphanet:431341|HP:0010479|UMLS:CN237552 owl:Class HGNC:7488 biolink:NamedThing MT-TI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003348 biolink:NamedThing conventional leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. tmpte7i6ely_mondo_relaxed.owl conventional leiomyosarcoma|classic leiomyosarcoma DOID:5253|NCIT:C9428|UMLS:C1333157 owl:Class MONDO:0012419 biolink:NamedThing age related macular degeneration 7 Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene. tmpte7i6ely_mondo_relaxed.owl macular Degeneration, age-related, wet type, susceptibility to|macular Degeneration, age-related, neovascular type, susceptibility to|age related macular degeneration type 7|HTRA1 age-related macular degeneration|macular Degeneration, age-related, type 7|ARMD7|macular degeneration, age-related, 7|age-related macular degeneration caused by mutation in HTRA1 DOID:0110019|OMIM:610149|UMLS:C1857813|MESH:C565718 owl:Class NCBITaxon:91827 biolink:NamedThing Gunneridae tmpte7i6ely_mondo_relaxed.owl core eudicotyledons|core eudicots GC_ID:1 NCBITaxon:1437200 ncbi_taxonomy owl:Class NCBITaxon:71240 biolink:NamedThing eudicotyledons tmpte7i6ely_mondo_relaxed.owl dicotyledons|eudicots|Dicotyledoneae|dicots GC_ID:1|PMID:26724406|PMID:25249442 NCBITaxon:3399 ncbi_taxonomy owl:Class MONDO:0015943 biolink:NamedThing eosinophilic granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. tmpte7i6ely_mondo_relaxed.owl allergic Angiitides, granulomatous|Angiitides, granulomatous allergic|angiitis, allergic granulomatous|vasculitis, Churg-Strauss|syndrome, Churg-Strauss|Vasculitides, eosinophilic granulomatous|granulomatous angiitis, allergic|EGPA|vasculitis, Churg Strauss|granulomatous allergic Angiitides|vasculitis, eosinophilic granulomatous|eosinophilic granulomatous Vasculitides|Churg Strauss syndrome|Churg-Strauss vasculitis|allergic Angiitides|allergic granulomatosis|allergic granulomatosis angiitis|granulomatous vasculitis, eosinophilic|granulomatosis, allergic|allergic angiitis|Angiitides, allergic|Angiitides, allergic granulomatous|granulomatous Angiitides, allergic|Granulomatoses, allergic|allergic angiitis and granulomatosis|Churg-Strauss syndrome|allergic angiitis, granulomatous|allergic granulomatous Angiitides|granulomatous allergic angiitis|allergic granulomatous and angiitis|angiitis, allergic|angiitis, granulomatous allergic|granulomatous Vasculitides, eosinophilic|allergic granulomatous angiitis|eosinophilic granulomatous vasculitis|allergic Granulomatoses UMLS:C0008728|GARD:0006111|GARD:0005776|DOID:3049|SCTID:82275008|MedDRA:10048594|Orphanet:183|MESH:D015267|EFO:0007208|ICD10:M30.1|NCIT:C34481 owl:Class MONDO:0016015 biolink:NamedThing phenobarbital embryopathy A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. tmpte7i6ely_mondo_relaxed.owl phenobarbital antenatal exposure Orphanet:1919|GARD:0004315|UMLS:C4275281|SCTID:715431002|ICD10:Q86.8 owl:Class MONDO:0012444 biolink:NamedThing neurodegeneration with brain iron accumulation 2B tmpte7i6ely_mondo_relaxed.owl NBIA2B|neurodegeneration with brain iron accumulation, Pla2G6-related|neuroaxonal dystrophy, atypical|neurodegeneration with brain iron accumulation type 2b|Karak syndrome|NBIA2b|neurodegeneration with brain iron accumulation type 2B|neurodegeneration with brain iron accumulation, Pla2g6-related|early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline|atypical neuroaxonal dystrophy|neurodegeneration with brain iron accumulation 2B Orphanet:35069|GARD:0010688|ICD10:G23.0|OMIM:610217|DOID:0110736 NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset. owl:Class HGNC:9349 biolink:NamedThing PRDM5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017559 biolink:NamedThing congenital elbow dislocation, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295227|ICD10:Q68.8 owl:Class MONDO:0017327 biolink:NamedThing primary non-gestational choriocarcinoma of ovary Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism. tmpte7i6ely_mondo_relaxed.owl NGCO|primary non-gestational ovarian choriocarcinoma UMLS:CN202967|Orphanet:289356|SCTID:716588005|UMLS:C4274424|ICD10:C56 owl:Class MONDO:0007911 biolink:NamedThing lipoprotein, variant of beta tmpte7i6ely_mondo_relaxed.owl lipoprotein, variant of beta|Beta-lipoprotein, Double OMIM:152400 owl:Class HGNC:25198 biolink:NamedThing SLC25A46 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043472 biolink:NamedThing ectopic ACTH secretion syndrome A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) tmpte7i6ely_mondo_relaxed.owl ectopic ACTH syndromes|ACTH syndromes, ectopic|ectopic ACTH secretion syndrome|hypercortisolism due to nonpituitary tumor|ectopic ACTH secretion causing Cushing's syndrome|syndromes, ectopic ACTH|ectopic ACTH syndrome|ectopic ACTH secretion|syndrome, ectopic ACTH SCTID:626004|MESH:D000182|NCIT:C4387|UMLS:C0001231 owl:Class UBERON:0001188 biolink:NamedThing right testicular artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001187 biolink:NamedThing testicular artery tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011873 biolink:NamedThing Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. tmpte7i6ely_mondo_relaxed.owl UMLS:C0580317|SNOMEDCT_US:165558001 peter 2012-05-30T08:11:13Z human_phenotype owl:Class HP:0001872 biolink:NamedThing Abnormal thrombocyte morphology An abnormality of platelets. tmpte7i6ely_mondo_relaxed.owl Platelet abnormalities|Thrombasthenia|Blood platelet disease UMLS:C0151854|SNOMEDCT_US:32942005|UMLS:C4020863|UMLS:C0040015|MSH:D013915|SNOMEDCT_US:127566005 Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. HP:0005554|HP:0004807 human_phenotype owl:Class HP:0001269 biolink:NamedThing Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. tmpte7i6ely_mondo_relaxed.owl Weakness of one side of body UMLS:C0018989|MSH:D010291|SNOMEDCT_US:20022000|SNOMEDCT_US:127377003 human_phenotype owl:Class GO:0044297 biolink:NamedThing cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. tmpte7i6ely_mondo_relaxed.owl cell soma owl:Class MONDO:0013716 biolink:NamedThing aortic aneurysm, familial abdominal, 4 tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial abdominal, 4|AAA4 Orphanet:86|UMLS:C3280597|OMIM:614375 owl:Class MONDO:0100031 biolink:NamedThing adolescent/adult onset autosomal dominant epilepsy with auditory features A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. tmpte7i6ely_mondo_relaxed.owl autosomal dominant partial/lateral temporal epilepsy with auditory features 2018-06-23 01:47:18+00:00 owl:Class MONDO:0010898 biolink:NamedThing Autosomal dominant epilepsy with auditory features A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. tmpte7i6ely_mondo_relaxed.owl ETL1|ADLTE|ADEAF|familial temporal lobe epilepsy 1|Autosomal dominant epilepsy with auditory features|autosomal dominant lateral temporal lobe epilepsy|epilepsy, familial temporal lobe, 1|epilepsy, partial, with auditory features|ADPEAF|autosomal dominant partial epilepsy with auditory features|partial epilepsy with auditory features|autosomal dominant epilepsy with auditory features|epilepsy, lateral temporal lobe, autosomal dominant|familial temporal lobe epilepsy type 1|partial epilepsy with auditory aura|epilepsy, familial temporal lobe 1|epilepsy, familial temporal lobe, type 1 Orphanet:101046|OMIM:616436|OMIM:616461|NCIT:C141441|OMIM:600512|MESH:C537297|DOID:0060748|UMLS:C1838062|GARD:0002257 Editor note: split out generic type https://github.com/monarch-initiative/mondo/issues/1134|https://github.com/monarch-initiative/mondo/issues/2614 owl:Class MONDO:0001596 biolink:NamedThing hypochondriasis A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis. tmpte7i6ely_mondo_relaxed.owl hypochondriacal neurosis|hypochondriacal disorder|hypochondria ICD9:300.7|NCIT:C9493|DOID:12883|MESH:D006998|SCTID:18193002|ICD10:F45.2|ICD10:F45.21 owl:Class MONDO:0001642 biolink:NamedThing hordeolum externum A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis. tmpte7i6ely_mondo_relaxed.owl external stye ICD10:H00.03|SCTID:1489008|DOID:13134|UMLS:C0019919|ICD10:H00.01|ICD9:373.11 owl:Class MONDO:0018368 biolink:NamedThing primary peritoneal serous/papillary carcinoma tmpte7i6ely_mondo_relaxed.owl PPSPC|primary serous papillary carcinoma of peritoneum|primary peritoneal serous papillary adenocarcinoma|primary peritoneal serous papillary carcinoma|peritoneal serous papillary adenocarcinoma UMLS:C1368918|ICD10:C48.8|Orphanet:398980|ICD10:C48.2|NCIT:C7695|UMLS:CN205035|ICD10:C48.1|DOID:6228|ICD10:C48.0 owl:Class MONDO:0010310 biolink:NamedThing osteopathia striata with cranial sclerosis Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. tmpte7i6ely_mondo_relaxed.owl osteopathia striata with cranial sclerosis|osteopathia striata-cranial sclerosis syndrome|hyperostosis generalisata with striations|osteopathia striata cranial sclerosis|OSCS|osteopathia striata - cranial sclerosis|Robinow-Unger syndrome Orphanet:2780|UMLS:C0432268|MESH:C536053|OMIM:300373|GARD:0004148|EFO:0005834|ICD9:733.99|SCTID:254129003|ICD10:Q78.8|DOID:0060886 owl:Class NCBITaxon:33354 biolink:NamedThing Cimicomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033541 biolink:NamedThing immunodeficiency 69 tmpte7i6ely_mondo_relaxed.owl Ifng Deficiency, Autosomal Recessive|IMMUNODEFICIENCY 69|IMD69|Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive OMIM:618963 owl:Class MONDO:0004620 biolink:NamedThing Hodgkin's lymphoma, lymphocytic depletion A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) tmpte7i6ely_mondo_relaxed.owl adult lymphocyte depletion Hodgkin's disease|adult lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|Hodgkin lymphoma, lymphocyte depletion|adult lymphocyte depleted Hodgkin lymphoma|adult LDHD|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites|adult lymphocyte depleted classical Hodgkin lymphoma|adult HDLD|lymphocyte-depleted classical Hodgkin lymphoma|adult lymphocyte depleted Hodgkin's lymphoma|Hodgkin's disease, lymphocytic depletion|Adult lymphocyte-depleted Classic Hodgkin lymphoma|Hodgkin's lymphocytic depletion of unspecified site|classic Hodgkin lymphoma, lymphocyte-depleted type Orphanet:98846|ONCOTREE:LDCHL|NCIT:C9125|ICD10:C81.3|DOID:8628|ICD9:201.7|MESH:D006689|SCTID:118610003 owl:Class HGNC:11104 biolink:NamedThing SMARCC1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006675 biolink:NamedThing venous valve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018812 biolink:NamedThing MSH3-related attenuated familial adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl MSH3-related attenuated familial adenomatous polyposis|MSH3-related AFAP|MSH3-related attenuated familial polyposis coli|MSH3-related attenuated FAP Orphanet:480536|UMLS:CN776886 owl:Class MONDO:0032735 biolink:NamedThing cataract 48 tmpte7i6ely_mondo_relaxed.owl CATARACT 48|CTRCT48 DOID:0070354|OMIM:618415 owl:Class HGNC:9986 biolink:NamedThing RFX5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020521 biolink:NamedThing Ehlers-Danlos syndrome type 7A tmpte7i6ely_mondo_relaxed.owl EDS VIIA Orphanet:99875|UMLS:CN207418|ICD10:Q79.6|OMIM:130060 owl:Class MONDO:0013088 biolink:NamedThing follicular lymphoma, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl FL1|follicular lymphoma, susceptibility to, 1 OMIM:613024|Orphanet:545 owl:Class MONDO:0018821 biolink:NamedThing X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability tmpte7i6ely_mondo_relaxed.owl X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females UMLS:CN776923|Orphanet:480880 owl:Class HGNC:467 biolink:NamedThing AMMECR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010081 biolink:NamedThing subaortic stenosis, membranous tmpte7i6ely_mondo_relaxed.owl subaortic stenosis, membranous Orphanet:3092|OMIM:271950|MESH:C564793|Orphanet:99051 owl:Class MONDO:0020392 biolink:NamedThing discrete fixed membranous subaortic stenosis tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.4|OMIM:271950|Orphanet:99051 owl:Class NCBITaxon:6208 biolink:NamedThing Taeniidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HsapDv:0000140 biolink:NamedThing 46-year-old human stage Middle aged stage that refers to an adult who is over 46 and under 47. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011186 biolink:NamedThing Usher syndrome type 1F A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl Usher syndrome, type 1F|Usher syndrome type 1F|USH1F|Usher syndrome type IF|USHER syndrome, type IF Orphanet:231169|DOID:0110832|Orphanet:886|ICD10:H35.5|GARD:0010043|OMIM:602083|UMLS:C1865885 https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f owl:Class GO:0055024 biolink:NamedThing regulation of cardiac muscle tissue development Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. tmpte7i6ely_mondo_relaxed.owl regulation of heart muscle development owl:Class MONDO:0006178 biolink:NamedThing dedifferentiated solitary fibrous tumor A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma. tmpte7i6ely_mondo_relaxed.owl UMLS:C2699572|NCIT:C79948|EFO:1000214 owl:Class MONDO:0016238 biolink:NamedThing solitary fibrous tumor Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia). tmpte7i6ely_mondo_relaxed.owl localized fibrous mesothelioma|SFT|solitary fibrous tumor|solitary fibrous tumor/hemangiopericytoma|submesothelial fibroma|hemangiopericytoma|localized fibrous tumor ONCOTREE:SFT|ICDO:8815/0|NCIT:C7634|ICDO:9051/0|ICDO:8815/1|MESH:D054364|Orphanet:2126|ICD9:238.1|OMIM:234820|UMLS:C1266119|ICD10:D21.9|MedDRA:10018825 owl:Class MONDO:0006422 biolink:NamedThing small intestinal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl UMLS:C1710113|NCIT:C43553|EFO:1000539 owl:Class MONDO:0015807 biolink:NamedThing myopic macular degeneration tmpte7i6ely_mondo_relaxed.owl myopic maculopathy UMLS:C0730271|SCTID:312898002|EFO:0009201|Orphanet:178493|ICD10:H35.3 owl:Class MONDO:0000004 biolink:NamedThing adrenocortical insufficiency An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). tmpte7i6ely_mondo_relaxed.owl adrenal cortical insufficiency|hypocortisolism|corticoadrenal insufficiency|hypocortisolemia|adrenocortical insufficiency|adrenal gland insufficiency|adrenal cortical hypofunction|adrenal insufficiency MESH:D000309|ICD9:255.41|GARD:0006722|DOID:10493|SCTID:386584007|NCIT:C26691|ICD9:255.4|UMLS:C0405580 hypoadrenalism owl:Class MONDO:0016983 biolink:NamedThing Bartter syndrome with hypocalcemia Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) tmpte7i6ely_mondo_relaxed.owl Bartter syndrome type 5|Bartter syndrome type V ICD10:E26.8|UMLS:C3715128|OMIM:601198|Orphanet:263417 owl:Class MONDO:0002954 biolink:NamedThing superficial multifocal basal cell carcinoma A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors. tmpte7i6ely_mondo_relaxed.owl superficial multicentric basal-cell carcinoma|multicentric basal cell carcinoma|multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial basal cell carcinoma|superficial multifocal basal cell carcinoma|multifocal superficial basal cell carcinoma ICDO:8091/3|NCIT:C4108|DOID:4300|UMLS:C0334256|SCTID:403914000 owl:Class MONDO:0008189 biolink:NamedThing papillomatosis, florid, of nipple A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis. tmpte7i6ely_mondo_relaxed.owl erosive nipple adenomatosis|florid papillomatosis|florid papillomatosis of the nipple|erosive adenomatosis of nipple|papillomatosis, florid, of nipple|erosive adenomatosis of the nipple|papillomatosis florid of nipple SCTID:237467005|UMLS:C1868647|OMIM:167950|GARD:0010174|NCIT:C4383|MESH:C537167 https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple owl:Class NCBITaxon:7088 biolink:NamedThing Lepidoptera tmpte7i6ely_mondo_relaxed.owl moths|butterflies and moths GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008262 biolink:NamedThing Poland syndrome Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. tmpte7i6ely_mondo_relaxed.owl Poland's syndrome|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland sequence|Poland syndrome|pectoralis muscle, absence of|Poland syndactyly|Poland's syndactyly|Poland anomaly GARD:0007412|NCIT:C85017|UMLS:C0032357|DOID:12961|MedDRA:10036007|ICD9:756.89|ICD10:Q79.8|Orphanet:2911|MESH:D011045|OMIM:173800|SCTID:38371006 https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome owl:Class GO:1900017 biolink:NamedThing positive regulation of cytokine production involved in inflammatory response Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. tmpte7i6ely_mondo_relaxed.owl up regulation of cytokine production involved in inflammatory response|up regulation of cytokine production involved in acute inflammatory response|positive regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0004103 biolink:NamedThing tall cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. tmpte7i6ely_mondo_relaxed.owl tall cell variant papillary carcinoma|tall cell variant thyroid gland papillary carcinoma DOID:7089|NCIT:C35558|UMLS:C1336695 owl:Class HP:0012795 biolink:NamedThing Abnormality of the optic disc A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. tmpte7i6ely_mondo_relaxed.owl UMLS:C3808249 The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. peter 2014-05-24T04:37:10Z human_phenotype owl:Class HP:0000587 biolink:NamedThing Abnormality of the optic nerve Abnormality of the optic nerve. tmpte7i6ely_mondo_relaxed.owl optic nerve abnormalities|Optic nerve issue UMLS:C0029131 The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. human_phenotype owl:Class MONDO:0015166 biolink:NamedThing acute myeloid leukemia with t(8;21)(q22;q22) translocation tmpte7i6ely_mondo_relaxed.owl AML with t(8;21)(q22;q22) translocation ICD10:C92.0|Orphanet:102724 owl:Class MONDO:0014715 biolink:NamedThing primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. tmpte7i6ely_mondo_relaxed.owl primary immunodeficiency with post-MMR vaccine viral infection|immunodeficiency 44|IMD44|immunodeficiency type 44 ICD10:D84.8|Orphanet:431166|OMIM:616636|OMIM:616669|UMLS:C4225260 owl:Class ENVO:01001687 biolink:NamedThing mass of solid material An object which is composed primarily of a solid environmental material tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38497 biolink:NamedThing respiratory-chain inhibitor tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012172 biolink:NamedThing stomach primordium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18514 biolink:NamedThing SPART tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004897 biolink:NamedThing hypotropia Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye. tmpte7i6ely_mondo_relaxed.owl hypotropia|sunset sign|downward ocular deviation NCIT:C42086|UMLS:C0152208|DOID:9841|ICD9:378.32|SCTID:29491004 owl:Class MONDO:0006896 biolink:NamedThing peptic esophagitis Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. tmpte7i6ely_mondo_relaxed.owl reflux esophagitis|reflux oesophagitis|peptic esophagitis|peptic reflux disease MESH:D004942|SCTID:57643001|DOID:13976|UMLS:C0014869|EFO:1001095|ICD9:530.11 owl:Class MONDO:0013406 biolink:NamedThing age related macular degeneration 6 Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene. tmpte7i6ely_mondo_relaxed.owl macular degeneration, age-related, 6|macular Degeneration, age-related, type 6|age-related macular degeneration caused by mutation in RAX2|ARMD6|age related macular degeneration type 6|RAX2 age-related macular degeneration DOID:0110018|UMLS:C3151060|MESH:C563674|OMIM:613757 owl:Class MONDO:0005078 biolink:NamedThing phyllodes tumor A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. tmpte7i6ely_mondo_relaxed.owl phyllodes neoplasm|phyllodes tumor|CSP|cystosarcoma phyllodes EFO:0000653|NCIT:C2977|MESH:D003557 Note that this class covers both breast and prostate phyllodes tumors owl:Class MONDO:0000734 biolink:NamedThing Ohdo syndrome and variants tmpte7i6ely_mondo_relaxed.owl Ohdo syndrome|Ohdo blepharophimosis syndrome OMIM:300895|Orphanet:2728|DOID:0060289|UMLS:C0796094|SCTID:412787009|OMIM:249620 owl:Class MONDO:0021453 biolink:NamedThing benign neoplasm of retina A benign neoplasm that involves the retina. tmpte7i6ely_mondo_relaxed.owl benign retinal tumor|benign tumor of retina|benign retina tumor|benign retinal neoplasm|benign tumor of the retina|benign retina neoplasm|benign neoplasm of the retina|retina benign neoplasm NCIT:C3624|ICD9:224.5|UMLS:C0154027|SCTID:92321003 owl:Class GO:1903708 biolink:NamedThing positive regulation of hemopoiesis Any process that activates or increases the frequency, rate or extent of hemopoiesis. tmpte7i6ely_mondo_relaxed.owl up-regulation of hemopoiesis|activation of haemopoiesis|up-regulation of hematopoiesis|positive regulation of hematopoiesis|positive regulation of blood cell formation|upregulation of haemopoiesis|up-regulation of haemopoiesis|activation of hematopoiesis|upregulation of blood cell biosynthesis|up regulation of haemopoiesis|up regulation of blood cell biosynthesis|upregulation of blood cell formation|up regulation of blood cell formation|activation of blood cell biosynthesis|upregulation of hemopoiesis|up regulation of hemopoiesis|activation of blood cell formation|up-regulation of blood cell formation|positive regulation of haemopoiesis|up regulation of hematopoiesis|activation of hemopoiesis|upregulation of hematopoiesis|positive regulation of blood cell biosynthesis|up-regulation of blood cell biosynthesis owl:Class MONDO:0016847 biolink:NamedThing trisomy 1q Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. tmpte7i6ely_mondo_relaxed.owl Duplication 1q|trisomy type 1q Orphanet:261344|ICD10:Q92.2|SCTID:768927001 owl:Class MONDO:0009611 biolink:NamedThing 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). tmpte7i6ely_mondo_relaxed.owl MGA4|Not otherwise specified 3-MGA-Uria type|3 methylglutaconic aciduria type IV|3-methylglutaconic aciduria type IV|MGCA4|MGA type IV|3 alpha methylglutaconic aciduria type IV|3-Methylglutaconic aciduria, type 4|3-METHYLGLUTACONIC aciduria, type IV|Mga, type 4 DOID:0110006|OMIM:250951|ICD10:E71.1|UMLS:C1855126|UMLS:C0574085|SCTID:297233004|GARD:0010342|Orphanet:67048|MESH:C565393 https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type owl:Class MONDO:0054699 biolink:NamedThing proteasome-associated autoinflammatory syndrome 3 tmpte7i6ely_mondo_relaxed.owl PRAAS3|proteasome-associated autoinflammatory syndrome 3|proteasome-associated autoinflammatory syndrome 3, digenic OMIM:617591 owl:Class MONDO:0022893 biolink:NamedThing craniosynostosis arthrogryposis cleft palate tmpte7i6ely_mondo_relaxed.owl GARD:0001587 https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate owl:Class MONDO:0019207 biolink:NamedThing DEND syndrome DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. tmpte7i6ely_mondo_relaxed.owl K ATP associated developmental delay, epilepsy and neonatal diabetes|developmental delay-epilepsy-neonatal diabetes syndrome OMIM:606176|UMLS:C1853564|Orphanet:79134|UMLS:C4303593|SCTID:721088003|NCIT:C131845|ICD10:P70.2 owl:Class MONDO:0006965 biolink:NamedThing secondary hypertrophic osteoarthropathy Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl HPOA - hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy|Marie Bamberger disease|Bamberger-Marie disease|hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous] DOID:10393|EFO:1001174|SCTID:203357004|MESH:D010005|ICD10:M89.4|UMLS:C0029412|ICD9:731.2 owl:Class HGNC:10896 biolink:NamedThing SKI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008299 biolink:NamedThing posterior column ataxia tmpte7i6ely_mondo_relaxed.owl posterior column ataxia|Biemond ataxia MESH:C536342|OMIM:176250|UMLS:C1867923|GARD:0010044 https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia owl:Class MONDO:0011042 biolink:NamedThing Martinez-Frias syndrome tmpte7i6ely_mondo_relaxed.owl Martinez-Frias syndrome|pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula|Martínez-Frías syndrome OMIM:601346|UMLS:C1832443|UMLS:CN199270|Orphanet:137862 owl:Class MONDO:0009017 biolink:NamedThing corneal degeneration, band-shaped spheroid tmpte7i6ely_mondo_relaxed.owl corneal degeneration, band-shaped spheroid OMIM:217520 owl:Class MONDO:0016546 biolink:NamedThing primary orthostatic tremor Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing. tmpte7i6ely_mondo_relaxed.owl orthostatic tremor, primary|pot|shaky leg syndrome|OT GARD:0008563|MESH:C536418|ICD10:G25.2|Orphanet:238606|SCTID:715902009 https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor owl:Class MONDO:0004088 biolink:NamedThing cervical basaloid carcinoma An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. tmpte7i6ely_mondo_relaxed.owl cervical basaloid carcinoma|cervical basaloid squamous cell carcinoma NCIT:C40189|DOID:7046|UMLS:C1511063 owl:Class HGNC:27960 biolink:NamedThing SLC6A19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013738 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 96 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 96|DFNB96|autosomal recessive nonsyndromic deafness type 96|autosomal recessive deafness 96|autosomal recessive nonsyndromic deafness 96 ICD10:H90.3|DOID:0110538|OMIM:614414 owl:Class MONDO:0013981 biolink:NamedThing myoclonus, familial A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. tmpte7i6ely_mondo_relaxed.owl myoclonus, familial cortical|familial cortical myoclonus|familial myoclonus|FCM SCTID:763770005|OMIMPS:614937|UMLS:C3539916|ICD10:G25.3|Orphanet:319189 owl:Class UBERON:0012314 biolink:NamedThing embryonic facial prominence tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0006600 biolink:NamedThing creatine metabolic process The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. tmpte7i6ely_mondo_relaxed.owl creatine metabolism owl:Class UBERON:0013191 biolink:NamedThing ovarian cortex tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012574 biolink:NamedThing Potocki-Lupski syndrome 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. tmpte7i6ely_mondo_relaxed.owl PTLS|Duplication 17p11.2 syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|trisomy 17p11.2|17p11.2 microduplication syndrome|chromosome 17p11.2 duplication syndrome|Potocki-Lupski syndrome|chromosome 17P11.2 Duplication syndrome|17p11.2 Duplication syndrome DOID:0060853|GARD:0010145|NCIT:C124846|Orphanet:1713|ICD10:Q92.3|SCTID:734016004|UMLS:C2931246|OMIM:610883 owl:Class MONDO:0007838 biolink:NamedThing Jacobsen syndrome Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. tmpte7i6ely_mondo_relaxed.owl JBS|Del(11)(q23.3)|monosomy 11qter|Del(11)(qter)|partial 11q monosomy syndrome|chromosome 11q deletion syndrome|distal deletion 11q|Jacobsen syndrome|11q terminal deletion disorder|distal monosomy 11q|telomeric deletion 11q DOID:0111723|SCTID:715438008|NCIT:C75457|OMIM:147791|Orphanet:2308|ICD10:Q93.5|GARD:0000307|UMLS:C0795841 owl:Class MONDO:0019550 biolink:NamedThing hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. tmpte7i6ely_mondo_relaxed.owl autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|AR-CMT2 with acrodystrophy|HMSN with acrodystrophy ICD10:G60.0|Orphanet:90119|UMLS:CN206379 owl:Class MONDO:0009158 biolink:NamedThing Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type 10|Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality|EDS X|EDS 10|EDS10 (formerly)|Ehlers-Danlos syndrome, fibronectin-deficient|Ehlers-Danlos syndrome, type X (formerly)|Ehlers-Danlos syndrome, dysfibronectinemic type|Ehlers-Danlos syndrome type 10 (formerly)|FN Abnormality|Ehlers-Danlos syndrome type 10 Orphanet:75501|MESH:C565600|OMIM:225310|GARD:0008508|ICD10:Q79.6|SCTID:83586000 owl:Class HGNC:9965 biolink:NamedThing RERE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018112 biolink:NamedThing isolated scaphocephaly Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture. tmpte7i6ely_mondo_relaxed.owl isolated dolichocephaly|non-syndromic sagittal synostosis OMIM:123100|OMIM:600775|OMIM:615529|Orphanet:35093|ICD10:Q75.0 owl:Class MONDO:0023275 biolink:NamedThing Graham-Boyle-Troxell syndrome Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl graham Boyle Troxell syndrome|cystic hamartomata of lung and kidney|Graham-Boyle-Troxell syndrome|cystic hamartoma of lung and kidney SCTID:707530009|Orphanet:2111|MESH:C537292|ICD10:Q85.8|ICD9:759.6|UMLS:C2931468|GARD:0002557 https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome owl:Class MONDO:0032827 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 16 tmpte7i6ely_mondo_relaxed.owl EIG16 OMIM:618596 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class PATO:0002462 biolink:NamedThing collagenous A composition quality inhering in an bearer by virtue of the bearer's consisting of collagen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005855 biolink:NamedThing molluscum contagiosum A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl EFO:0007375|ICD10:B08.1|MESH:D008976|ICD9:078.0|UMLS:C0026393|SCTID:40070004|DOID:8867 owl:Class MONDO:0006086 biolink:NamedThing angiomyxoma A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. tmpte7i6ely_mondo_relaxed.owl SCTID:404083008|ICDO:8841/0|ICDO:8841/1|UMLS:C0027149|EFO:1000087|NCIT:C3254|ICD9:215.9|MESH:D009232 owl:Class CHEBI:49020 biolink:NamedThing hormone antagonist A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpte7i6ely_mondo_relaxed.owl hormone antagonists owl:Class MONDO:0044634 biolink:NamedThing retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome UMLS:C4540367|Orphanet:494439|OMIM:617763 owl:Class MONDO:0054728 biolink:NamedThing spermatogenic failure 24 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 24|SPGF24 OMIM:617959|UMLS:CN244570 owl:Class UBERON:0003523 biolink:NamedThing manus blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0002673 biolink:NamedThing regulation of acute inflammatory response Any process that modulates the frequency, rate, or extent of an acute inflammatory response. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4803 biolink:NamedThing HADHB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005916 biolink:NamedThing placenta accreta The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) tmpte7i6ely_mondo_relaxed.owl accreta, placenta|placenta Percreta|Percreta, placenta|placenta Increta|Increta, placenta SCTID:70129008|EFO:0007440|DOID:4744|NCIT:C26856|ICD10:O43.21|MESH:D010921 owl:Class MONDO:0011858 biolink:NamedThing spastic paraplegia, ataxia, and intellectual disability tmpte7i6ely_mondo_relaxed.owl Spar|spastic paraplegia, ataxia, and intellectual disability|spastic paraplegia, ataxia, and mental retardation MESH:C564378|OMIM:607565|UMLS:C1843661 owl:Class MONDO:0010677 biolink:NamedThing muscular dystrophy, Mabry type tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, Mabry type OMIM:310000|UMLS:C1839670|MESH:C564096 owl:Class GO:1901862 biolink:NamedThing negative regulation of muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. tmpte7i6ely_mondo_relaxed.owl downregulation of muscle tissue development|down regulation of muscle tissue development|inhibition of muscle tissue development|down-regulation of muscle tissue development owl:Class GO:1901861 biolink:NamedThing regulation of muscle tissue development Any process that modulates the frequency, rate or extent of muscle tissue development. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17944 biolink:NamedThing EXOSC3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410044 biolink:NamedThing vein of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002801 biolink:NamedThing colonic pseudo-obstruction Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. tmpte7i6ely_mondo_relaxed.owl acute colonic pseudo-obstruction|ACPO|Ogilvie's syndrome|primary chronic pseudo-obstruction of colon|acute colonic ileus EFO:1000871|MESH:D003112|ICD9:564.89|GARD:0007248|SCTID:35065006|DOID:3876|UMLS:C0009377 owl:Class GO:0045254 biolink:NamedThing pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). tmpte7i6ely_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide)|dihydrolipoyl dehydrogenase complex owl:Class MONDO:0011642 biolink:NamedThing carnitine acetyltransferase deficiency A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state. tmpte7i6ely_mondo_relaxed.owl carnitine acetyltransferase deficiency|acetyl-carnitine deficiency|CrAT|Acetyl-carnitine deficiency OMIM:606175|UMLS:C1443228|GTR:AN0098795|GTR:AN0098794|SCTID:124257002|MESH:C563249|GARD:0008602|ICD9:277.6|UMLS:CN035113 https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency owl:Class MONDO:0022470 biolink:NamedThing aortic dissection lentiginosis A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis. tmpte7i6ely_mondo_relaxed.owl GARD:0000742 https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis owl:Class MONDO:0001033 biolink:NamedThing mycotic corneal ulcer tmpte7i6ely_mondo_relaxed.owl DOID:10440|ICD9:370.05|SCTID:397977001|UMLS:C0155071|ICD10:H16.06 owl:Class MONDO:0004577 biolink:NamedThing corneal ulcer Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. tmpte7i6ely_mondo_relaxed.owl ulcer disease of cornea|Ulcer, corneal|cornea ulcer disease HP:0200020|DOID:8463|ICD9:370.00|SCTID:91514001|ICD9:370.0|ICD10:H16.0|MESH:D003320|NCIT:C50515|UMLS:C0010043|ICD10:H16.00 owl:Class MONDO:0003422 biolink:NamedThing lung adenoma A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma. tmpte7i6ely_mondo_relaxed.owl adenoma of the lung|pulmonary adenoma|lung adenoma|adenoma of lung DOID:5386|NCIT:C4455|SCTID:254642004|UMLS:C0345964 owl:Class MONDO:0014278 biolink:NamedThing immunodeficiency 18 Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. tmpte7i6ely_mondo_relaxed.owl immunodeficiency 18, SCID variant|IMD18|CD3-Epsilon deficiency|immunodeficiency 18, Severe combined immunodeficiency variant|immunodeficiency type 18|immunodeficiency 18 DOID:0060017|Orphanet:169160|OMIM:615615|UMLS:C3810127 owl:Class UBERON:0009661 biolink:NamedThing midbrain nucleus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023201 biolink:NamedThing Fryns Smeets Thiry syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:2058|GARD:0002409 https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome owl:Class UBERON:0003420 biolink:NamedThing mesenchyme of sublingual gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017204 biolink:NamedThing toxic maculopathy due to antimalarial drugs Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. tmpte7i6ely_mondo_relaxed.owl SCTID:763621004|ICD10:T37.2|UMLS:CN202676|ICD10:H35.3|Orphanet:279894 owl:Class OBI:0000659 biolink:NamedThing specimen collection process A planned process with the objective of collecting a specimen. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0029142 biolink:NamedThing hearing loss, autosomal recessive 111 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 111|DFNB111 OMIM:618145|DOID:0111640 owl:Class UBERON:0037459 biolink:NamedThing hair of limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019319 biolink:NamedThing verrucous nevus A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings. tmpte7i6ely_mondo_relaxed.owl verrucous Epidermal Nevus SCTID:398723007|NCIT:C4674|Orphanet:79467|UMLS:C0362030|ICD10:Q82.5 owl:Class MONDO:0056818 biolink:NamedThing skin adenosquamous carcinoma An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components. tmpte7i6ely_mondo_relaxed.owl skin adenosquamous carcinoma|skin adenosquamous cancer NCIT:C54250|UMLS:C1710103 owl:Class NCBITaxon:27872 biolink:NamedThing Xiphidiata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0000014 biolink:NamedThing germ line stem cell tmpte7i6ely_mondo_relaxed.owl germline stem cell cell owl:Class MONDO:0019231 biolink:NamedThing inborn disorder of pentose phosphate metabolism tmpte7i6ely_mondo_relaxed.owl disorder of pentose phosphate metabolism ICD10:E74.8|UMLS:CN227596|Orphanet:79186 owl:Class CHEBI:15339 biolink:NamedThing acceptor A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. tmpte7i6ely_mondo_relaxed.owl Akzeptor|Acceptor|accepteur|A|Oxidized donor|Hydrogen-acceptor owl:Class MONDO:0018180 biolink:NamedThing staphylococcal scarlet fever tmpte7i6ely_mondo_relaxed.owl Orphanet:36235|UMLS:CN204670|ICD10:A38 owl:Class MONDO:0001313 biolink:NamedThing acute allergic serous otitis media A acute serous otitis media caused by an allergen. tmpte7i6ely_mondo_relaxed.owl ICD9:381.04|UMLS:C0155418|DOID:11558|SCTID:59275002 owl:Class MONDO:0007381 biolink:NamedThing epithelial recurrent erosion dystrophy Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. tmpte7i6ely_mondo_relaxed.owl dystrophia Smolandiensis|ERED|epithelial recurrent erosion dystrophy|recurrent hereditary corneal erosions|dystrophia Helsinglandica|corneal erosions, recurring hereditary MESH:C565155|Orphanet:293381|OMIM:122400|UMLS:C1852551|DOID:0070337|SCTID:715908008|ICD10:H18.5 owl:Class MONDO:0019652 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation tmpte7i6ely_mondo_relaxed.owl Orphanet:93214|ICD10:N04.3|UMLS:CN206525 owl:Class MONDO:0023597 biolink:NamedThing laryngeal papillomatosis Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. tmpte7i6ely_mondo_relaxed.owl Warts in the throat|juvenile laryngeal papillomatosis|recurrent laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis|juvenile laryngeal papillomatosis (subtype)|laryngeal papillomatosis GARD:0006864|MESH:C537876|UMLS:C0396072|SCTID:232457008 Editor note: compare with MONDO:0000935 https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis owl:Class MONDO:0016968 biolink:NamedThing partial trisomy of the long arm of chromosome 18 tmpte7i6ely_mondo_relaxed.owl 18q partial trisomy|Duplication 18q|partial duplication of chromosome 18q|chromosome 18q duplication|partial trisomy of the long arm of chromosome type 18|18q trisomy|trisomy 18q|partial duplication of the long arm of chromosome 18|18q duplication|partial trisomy of chromosome 18q Orphanet:262977|GARD:0005324|UMLS:C0809935|MESH:C538308 owl:Class GO:0017171 biolink:NamedThing serine hydrolase activity Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030914 biolink:NamedThing Clark-Baraitser syndrome tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 49|autosomal dominant mental retardation 49|autosomal dominant intellectual disability 49|MRD49|Clark-Baraitser syndrome|Baraitser syndrome|intellectual disability, tall stature, obesity, macrocephaly and typical facial features|intellectual disability, autosomal dominant 49|mental retardation, tall stature, obesity, macrocephaly and typical facial features OMIM:617752|GARD:0009994|UMLS:C2931130|DOID:0080234|OMIM:300602|MESH:C536208|UMLS:CN593636 https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome owl:Class MONDO:0019105 biolink:NamedThing renal nutcracker syndrome A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices. tmpte7i6ely_mondo_relaxed.owl RNS|left renal vein entrapment syndrome|nutcracker syndrome GARD:0011971|MESH:D059228|SCTID:717267005|EFO:1001838|Orphanet:71273|UMLS:C3178770 owl:Class UBERON:0035118 biolink:NamedThing material entity in digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017054 biolink:NamedThing thiamine-responsive maple syrup urine disease Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. tmpte7i6ely_mondo_relaxed.owl thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive maple syrup urine disease|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency|thiamine-responsive BCKD deficiency|thiamine-responsive MSUD Orphanet:268184|OMIM:248600|ICD10:E71.0 owl:Class NCIT:C12917 biolink:NamedThing Malignant Cell tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C7057 biolink:NamedThing Disease, Disorder or Finding tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025376 biolink:NamedThing African horse sickness An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck. tmpte7i6ely_mondo_relaxed.owl equine plague|horse Sicknesses, African|sickness, African horse|horse sickness, African|African Horsesickness|African horse Sicknesses|Plagues, equine|Horsesicknesses, African|Horsesickness, African|Sicknesses, African horse|equine Plagues|African Horsesicknesses|plague, equine UMLS:C0001748|MESH:D000355 owl:Class HGNC:21679 biolink:NamedThing RSPO1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:90339 biolink:NamedThing Rhinosporidium seeberi tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010248 biolink:NamedThing X-linked spondyloepimetaphyseal dysplasia X-linked form of spondyloepimetaphyseal dysplasia. tmpte7i6ely_mondo_relaxed.owl SEMD, X-linked|spondyloepimetaphyseal dysplasia, X-linked|SEMD X-linked|spondylo-epimetaphyseal dysplasia|SEMDX|spondyloepimetaphyseal dysplasia X-linked OMIM:300106|GARD:0004979|UMLS:C1848097|ICD10:Q77.7|MESH:C564714|Orphanet:93349 https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked owl:Class MONDO:0030876 biolink:NamedThing cardioacrofacial dysplasia 1 tmpte7i6ely_mondo_relaxed.owl CAFD1|cardioacrofacial dysplasia 1 OMIM:619142 owl:Class MONDO:0019368 biolink:NamedThing florid cemento-osseous dysplasia Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw. tmpte7i6ely_mondo_relaxed.owl focal cemento-osseous dysplasia|Gigantiform cementoma|florid osseous dysplasia NCIT:C8381|ICD10:D16.4|UMLS:C0555197|SCTID:715634002|MESH:C537063|ICD10:D16.5|ICDO:9275/0|Orphanet:83451|GARD:0010173 https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia owl:Class HGNC:16088 biolink:NamedThing SFXN4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014614 biolink:NamedThing cervical spinal cord white matter tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0031047 biolink:NamedThing Paraproteinemia An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. tmpte7i6ely_mondo_relaxed.owl Monoclonal hypergammaglobulinemia 2017-05-27 14:25:46+00:00 A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. peter human_phenotype owl:Class HP:0010702 biolink:NamedThing Increased circulating antibody level An increased level of gamma globulin (immunoglobulin) in the blood. tmpte7i6ely_mondo_relaxed.owl Hypergammaglobulinemia|Increased antibody level in blood|Hyperglobulinemia|Hypergammaglobulinaemia|Raised immunoglobulin levels|Increased gamma globulin|Increased immunoglobulin level|Increased serum gamma globulin|Elevated immunoglobulin levels UMLS:C0541985|UMLS:C2048011|UMLS:C1306857|SNOMEDCT_US:129646001|UMLS:C0151669|SNOMEDCT_US:127388009|UMLS:C0020455|MSH:D006942 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2010-03-22T08:20:07Z HP:0002852|HP:0004435|HP:0004314 human_phenotype owl:Class MONDO:0001860 biolink:NamedThing folic acid deficiency anemia tmpte7i6ely_mondo_relaxed.owl folate-deficiency anemia|folate-deficient megaloblastic anaemia|folate deficiency anemia DOID:14026|SCTID:85649008|UMLS:C0151482|ICD10:D52|ICD10:D52.9|ICD9:281.2 owl:Class NCBITaxon:169440 biolink:NamedThing Coelopidae tmpte7i6ely_mondo_relaxed.owl seaweed flies|kelp flies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43750 biolink:NamedThing Sciomyzoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007542 biolink:NamedThing Camurati-Engelmann disease Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. tmpte7i6ely_mondo_relaxed.owl CED|Camurati-Engelmann syndrome|DPD1|CAEND|diaphyseal dysplasia|progressive diaphyseal dysplasia|Camurati-Englemann disease|Engelman's disease|Camurati-Engelmann disease|diaphyseal dysplasia 1, progressive|Engelmann disease SCTID:318761000119105|ICD10:Q78.3|Orphanet:1328|GARD:0001072|OMIM:131300|ICD9:756.59|NCIT:C84610|UMLS:C0011989|DOID:4997|OMIM:606631 owl:Class MONDO:0000815 biolink:NamedThing fetal nicotine spectrum disorder A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. tmpte7i6ely_mondo_relaxed.owl DOID:0060606 owl:Class CHEBI:35137 biolink:NamedThing hemoprotein Conjugated proteins containing heme as the prosthetic group. tmpte7i6ely_mondo_relaxed.owl Haemprotein|haemoprotein|haem protein|Haemoprotein|hemeproteins|hemoprotein|hemoproteins|heme protein owl:Class CHEBI:35136 biolink:NamedThing iron protein tmpte7i6ely_mondo_relaxed.owl iron proteins|iron protein|iron-containing proteins owl:Class MONDO:0015416 biolink:NamedThing Tessier number 5 facial cleft tmpte7i6ely_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141261 owl:Class MONDO:0012617 biolink:NamedThing intellectual disability, autosomal recessive 9 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 26|intellectual disability, autosomal recessive 26|intellectual disability, autosomal recessive 9|mental retardation, autosomal recessive 9|MRT9 UMLS:C1970195|OMIM:611095|Orphanet:88616|MESH:C567014 owl:Class NCBITaxon:11709 biolink:NamedThing Human immunodeficiency virus 2 tmpte7i6ely_mondo_relaxed.owl HIV|HIV-2|Human immunodeficiency virus-2|AIDS virus|human immunodeficiency virus type 2, HIV-2|HIV type 2|Human immunodeficiency virus type 2|HIV2|human immunodeficiency virus type 2 HIV-2|LAV-2 GC_ID:1 ncbi_taxonomy owl:Class HGNC:29099 biolink:NamedThing TELO2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:131927 biolink:NamedThing dicarboxylic acids and O-substituted derivatives A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens. tmpte7i6ely_mondo_relaxed.owl dicarboxylic acids and derivatives owl:Class MONDO:0019689 biolink:NamedThing perlecan-related bone disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227675|Orphanet:93424 owl:Class MONDO:0017515 biolink:NamedThing brachydactyly of fingers, unilateral tmpte7i6ely_mondo_relaxed.owl short fingers, unilateral ICD10:Q71.8|Orphanet:295128 owl:Class MONDO:0017451 biolink:NamedThing non-syndromic brachydactyly of fingers A non-syndromic brachydactyly that involves the manus. tmpte7i6ely_mondo_relaxed.owl short fingers|manus non-syndromic brachydactyly|non-syndromic brachydactyly of manus Orphanet:294996|ICD10:Q71.8 owl:Class MONDO:0001656 biolink:NamedThing megaesophagus An abnormal dilation of the esophagus not due to obstruction. tmpte7i6ely_mondo_relaxed.owl NCIT:C34811|DOID:13186|SCTID:70667005|UMLS:C0025164 owl:Class NBO:0000338 biolink:NamedThing kinesthetic behavior "Movement behavior of the body or its parts." tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0013000 biolink:NamedThing forebrain radial glial cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001468 biolink:NamedThing synovial plica syndrome tmpte7i6ely_mondo_relaxed.owl plica syndrome|synovial plica of knee ICD9:727.9|DOID:12225|SCTID:240171001|UMLS:C0410485|ICD9:727.83|ICD10:M67.5 owl:Class MONDO:0020688 biolink:NamedThing spinal cord ischemia Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue. tmpte7i6ely_mondo_relaxed.owl ischemic myelopathy|cord ischemia, spinal|ischemic myelopathies|myelopathy, ischemic|experimental spinal cord ischemia|spinal cord Ischemias|ischemia, spinal cord|spinal cord ischemia, experimental|ischemias, spinal cord|myelopathies, ischemic|cord Ischemias, spinal MESH:D020760 owl:Class CL:0002366 biolink:NamedThing myometrial cell A smooth muscle cell of the myometrium that enlarges and stretches during pregnancy, and contracts in response to oxytocin. tmpte7i6ely_mondo_relaxed.owl myometrium smooth muscle cell BTO:0004519 tmeehan 2010-09-23T03:46:34Z cell owl:Class GO:0050748 biolink:NamedThing negative regulation of lipoprotein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpte7i6ely_mondo_relaxed.owl negative regulation of lipoprotein metabolism|down-regulation of lipoprotein metabolic process|inhibition of lipoprotein metabolic process|down regulation of lipoprotein metabolic process|downregulation of lipoprotein metabolic process owl:Class MONDO:0100311 biolink:NamedThing sensory ataxia Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002947 biolink:NamedThing adamantinoid basal cell epithelioma tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma - adamantinoid|melanotic adamantinoma of skin|skin adamantinoid basal cell carcinoma|skin adamantinoid basal cell epithelioma|adamantinoid basal cell carcinoma DOID:4290|UMLS:C1304295|NCIT:C7585|SCTID:402524007 owl:Class MONDO:0011359 biolink:NamedThing acromelic frontonasal dysostosis Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. tmpte7i6ely_mondo_relaxed.owl Toriello syndrome|acromelic frontonasal dysostosis|acromelic frontonasal dysplasia|frontonasal dysplasia acromelic|AFND GARD:0002393|OMIM:603671|SCTID:715427008|DOID:0060342|Orphanet:1827|MESH:C566345|ICD10:Q75.8|GARD:0005539|UMLS:C1863616 https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic owl:Class MONDO:0002309 biolink:NamedThing papillary conjunctivitis Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva. tmpte7i6ely_mondo_relaxed.owl SCTID:416878008|ICD9:372.39|DOID:2458|UMLS:C0854165|NCIT:C35616 owl:Class MONDO:0014072 biolink:NamedThing D,L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. tmpte7i6ely_mondo_relaxed.owl combined D-2- and L-2-hydroxyglutaric aciduria|combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-hydroxyglutaric acidemia|D,L-2-hydroxyglutaric aciduria|combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|D2L2AD|D,L-2-HGA UMLS:C4076194|UMLS:C2746066|ICD10:E72.8|ICD9:270.8|Orphanet:356978|OMIM:615182|DOID:0111619|SCTID:713401006 owl:Class MONDO:0008899 biolink:NamedThing camptodactyly syndrome, Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl camptodactyly syndrome Guadalajara type 2|Guadalajara camptodactyly syndrome type II|camptodactyly syndrome, Guadalajara, type 2|camptodactyly syndrome, Guadalajara, type II Orphanet:1326|ICD10:Q87.1|MESH:C567138|GARD:0001068|SCTID:720603002|OMIM:211920 https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2 owl:Class MONDO:0013213 biolink:NamedThing hearing loss, cisplatin-induced, susceptibility to tmpte7i6ely_mondo_relaxed.owl hearing loss, cisplatin-induced, susceptibility to|CIHL OMIM:613290 owl:Class MONDO:0013638 biolink:NamedThing Warburg micro syndrome 3 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene. tmpte7i6ely_mondo_relaxed.owl Warburg micro syndrome type 3|WARBURG micro syndrome 3|micro syndrome 3|Warburg micro syndrome 3|RAB18 Warburg micro syndrome|WARBM3|Warburg micro syndrome caused by mutation in RAB18 UMLS:C3280203|Orphanet:2510|DOID:0110718|ICD10:Q87.0|OMIM:614222 owl:Class MONDO:0011591 biolink:NamedThing cataract 26 multiple types A cataract that has material basis in variation in the region 9q13-q22. tmpte7i6ely_mondo_relaxed.owl CTRCT26|cataract, autosomal recessive, early-onset, pulverulent|cataract 26, multiple types DOID:0110246|UMLS:C1854003|MESH:C565298|Orphanet:91492|ICD10:Q12.0|OMIM:605749|Orphanet:98984 owl:Class MONDO:0010201 biolink:NamedThing Winchester syndrome tmpte7i6ely_mondo_relaxed.owl Torg Winchester syndrome|Winchester-Grossman syndrome|Al-Qeel Sewairi syndrome|Winchester syndrome|NOA syndrome|multicentric osteolysis, nodulosis and arthropathy|WNCHRS|nodulosis arthropathy osteolysis syndrome UMLS:CN204453|ICD9:733.29|OMIM:277950|SCTID:254151006|GARD:0007894 Editor note: check relationship to parent owl:Class MONDO:0011615 biolink:NamedThing East Texas bleeding disorder tmpte7i6ely_mondo_relaxed.owl Bdet|bleeding disorder, EAST Texas type ICD10:D68.2|UMLS:C1853831|MESH:C565275|Orphanet:391320|OMIM:605913 owl:Class MONDO:0010043 biolink:NamedThing hereditary spastic paraplegia 17 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. tmpte7i6ely_mondo_relaxed.owl BSCL2 hereditary spastic paraplegia|spastic paraplegia 17|spastic paraplegia with amyotrophy of hands and feet|autosomal dominant spastic paraplegia type 17|dHMN5B|distal hereditary motor neuropathy type 5B|hereditary spastic paraplegia caused by mutation in BSCL2|hereditary spastic paraplegia type 17|spastic paraplegia-amyotrophy of hands and feet|spastic paraplegia 17, autosomal dominant|Silver syndrome|Silver spastic paraplegia syndrome|SPG17|autosomal dominant spastic paraplegia 17 MESH:C536644|DOID:0110770|UMLS:CN074197|OMIM:270685|Orphanet:100998|GARD:0004219|ICD10:G11.4|UMLS:C2931276 owl:Class MONDO:0016263 biolink:NamedThing primitive neuroectodermal tumor of the corpus uteri A primitive neuroectodermal tumor that involves the body of uterus. tmpte7i6ely_mondo_relaxed.owl peripheral neuroectodermal cancer of the corpus uteri|malignant peripheral neuroectodermal tumor of the corpus uteri|primitive neuroectodermal tumor of body of uterus|body of uterus primitive neuroectodermal tumor ICD10:C54.1|ICD10:C54.8|ICD10:C54.3|Orphanet:213630|ICD10:C54.2|UMLS:CN201052|ICD10:C54.0 owl:Class UBERON:0002459 biolink:NamedThing inferior palpebral vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019483 biolink:NamedThing methotrexate-associated lymphoproliferative disorders Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. tmpte7i6ely_mondo_relaxed.owl methotrexate-associated lymphoproliferation|MTX-LPD|MTX-associated lymphoproliferative disorders|methotrexate-associated lymphoproliferative disorder DOID:5821|UMLS:CN206264|NCIT:C7184|UMLS:C1334749|Orphanet:86904 owl:Class MONDO:0017413 biolink:NamedThing Reunion island Larsen syndrome tmpte7i6ely_mondo_relaxed.owl RLS|multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome ICD10:Q74.8|UMLS:CN203163|EFO:0002319|Orphanet:294049 owl:Class MONDO:0007185 biolink:NamedThing Banki syndrome Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. tmpte7i6ely_mondo_relaxed.owl Banki syndrome|fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis) Orphanet:1228|OMIM:109300|MESH:C566228|UMLS:C1862319|GARD:0000813|SCTID:733093004|ICD10:Q68.1 https://rarediseases.info.nih.gov/diseases/813/banki-syndrome owl:Class NCBITaxon:38946 biolink:NamedThing Paracoccidioides tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014700 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl AU-Kline syndrome|AUKS|Au-Kline syndrome|neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Orphanet:453504|UMLS:C4225274|OMIM:616580|UMLS:CN237748 owl:Class MONDO:0100419 biolink:NamedThing acute myeloid leukemia, KIT exon 8 mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.) tmpte7i6ely_mondo_relaxed.owl AML, KIT exon 8 mutation|AML, c-KIT Exon 8 Mutation|AML, CD117 Exon 8 Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation NCIT:C128660 owl:Class MONDO:0017108 biolink:NamedThing isolated total cerebellar vermis agenesis tmpte7i6ely_mondo_relaxed.owl Orphanet:269206|ICD10:Q04.3 owl:Class MONDO:0009844 biolink:NamedThing pellagra-like syndrome tmpte7i6ely_mondo_relaxed.owl pellagra like syndrome|pellagra-like skin rash-neurological manifestations syndrome|pellagra-like syndrome|pellagra-like rash with neurologic manifestations Orphanet:2837|UMLS:C1850052|GARD:0004267|MESH:C538352|OMIM:260650 https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome owl:Class MONDO:0001132 biolink:NamedThing sexual sadism disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual. tmpte7i6ely_mondo_relaxed.owl sexual sadism SCTID:59394009|MESH:D012448|DOID:10817|ICD10:F65.52|NCIT:C94358|ICD9:302.84 owl:Class MONDO:0000595 biolink:NamedThing sexual and gender identity disorders A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle. tmpte7i6ely_mondo_relaxed.owl sexual disorder DOID:0060043|EFO:0004714|SCTID:231532002|NCIT:C92202 owl:Class UBERON:0034706 biolink:NamedThing proliferating neuroepithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018318 biolink:NamedThing disorder of asparagine metabolism tmpte7i6ely_mondo_relaxed.owl Orphanet:391381|UMLS:CN227320 owl:Class MONDO:0010884 biolink:NamedThing muscular dystrophy, scapulohumeral tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, scapulohumeral MESH:C562932|UMLS:C0410192|OMIM:600416|Orphanet:269|SCTID:240074006 owl:Class MONDO:0001347 biolink:NamedThing facioscapulohumeral muscular dystrophy An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. tmpte7i6ely_mondo_relaxed.owl Landouzy-Dejerine myopathy|facioscapulohumeral myopathy|facioscapulohumeral muscular dystrophy|muscular dystrophy, Landouzy-Dejerine|FSHD|facioscapulohumeral dystrophy|Landouzy-Dejerine muscular dystrophy|Landouzy Dejerine muscular dystrophy|FSH dystrophy MedDRA:10064087|DOID:11727|OMIMPS:158900|ICD10:G71.0|OMIM:158901|NCIT:C84704|SCTID:399091004|OMIM:158900|OMIM:600416|MESH:D020391|Orphanet:269 owl:Class HGNC:18625 biolink:NamedThing FKBP14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007374 biolink:NamedThing Schnyder corneal dystrophy Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. tmpte7i6ely_mondo_relaxed.owl crystalline stromal dystrophy|Schnyder corneal dystrophy|hereditary crystalline stromal dystrophy of Schnyder|Schnyder crystalline corneal dystrophy|corneal dystrophy, Schnyder|corneal dystrophy crystalline of Schnyder|corneal dystrophy, crystalline, of Schnyder|Schnyder crystalline dystrophy sine crystals|SCCD|SCD OMIM:121800|ICD10:H18.5|SCTID:419395007|MESH:C535475|GARD:0009277|DOID:0060456|Orphanet:98967 owl:Class MONDO:0008847 biolink:NamedThing atrichia with papular lesions Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. tmpte7i6ely_mondo_relaxed.owl papular atrichia|atrichia with papular lesions|APL Orphanet:86819|MESH:C565924|UMLS:C1859592|SCTID:715963002|DOID:0060689|OMIM:209500|ICD10:L65.8 owl:Class MONDO:0012887 biolink:NamedThing inflammatory bowel disease 23 An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 23|IBD23|inflammatory bowel disease 23 DOID:0110884|OMIM:612381|UMLS:C2676484|MESH:C567326 owl:Class HGNC:9987 biolink:NamedThing RFXANK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017738 biolink:NamedThing lysosomal glycogen storage disease tmpte7i6ely_mondo_relaxed.owl ICD10:E74.0|Orphanet:309337|UMLS:CN203642 owl:Class MONDO:0100470 biolink:NamedThing reactive airway disease Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants. tmpte7i6ely_mondo_relaxed.owl hyperactive airway disease|reactive airway disease (AQ) NCIT:C113673|SCITD:991000119106 http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:59698 biolink:NamedThing phosphoric acids Compounds containing one or more phosphoric acid units. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:499202 biolink:NamedThing Lichtheimiaceae tmpte7i6ely_mondo_relaxed.owl Mycocladiaceae|Mycocladaceae GC_ID:1|PMID:17997297 ncbi_taxonomy owl:Class GO:0006937 biolink:NamedThing regulation of muscle contraction Any process that modulates the frequency, rate or extent of muscle contraction. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:51570 biolink:NamedThing biotins Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:47857 biolink:NamedThing ureas tmpte7i6ely_mondo_relaxed.owl urea derivatives owl:Class MONDO:0013500 biolink:NamedThing immunodeficiency 51 tmpte7i6ely_mondo_relaxed.owl candidiasis, familial chronic mucocutaneous, autosomal recessive|IMD51|candidiasis, familial, 5, formerly|candidiasis, familial, 5|CANDF5|immunodeficiency 51|candidiasis, familial, type 5 OMIM:613953|UMLS:C4310803|UMLS:C3151402 owl:Class MONDO:0013949 biolink:NamedThing peroxisome biogenesis disorder 11A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group H|peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group 13|PBD11A OMIM:614883|DOID:0080485|UMLS:C3554000 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100267 biolink:NamedThing peroxisome biogenesis disorder due to PEX13 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene. tmpte7i6ely_mondo_relaxed.owl PEX13 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX13 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HP:0032016 biolink:NamedThing Abnormal sputum Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. tmpte7i6ely_mondo_relaxed.owl Abnormal sputum morphology 2018-08-25 12:36:36+00:00 peter human_phenotype owl:Class MONDO:0032771 biolink:NamedThing paragangliomas 7 tmpte7i6ely_mondo_relaxed.owl PARAGANGLIOMAS 7|PGL7 OMIM:618475 owl:Class GO:0009260 biolink:NamedThing ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleotide formation|ribonucleotide synthesis|ribonucleotide anabolism|ribonucleotide biosynthesis owl:Class CL:0000104 biolink:NamedThing multipolar neuron Neuron with an axon and two or more dendrites. tmpte7i6ely_mondo_relaxed.owl FMA:67287 cell owl:Class MONDO:0001997 biolink:NamedThing root resorption Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl MESH:D012391|DOID:14550|UMLS:C0035851 owl:Class MONDO:0013636 biolink:NamedThing primary biliary cholangitis 4 tmpte7i6ely_mondo_relaxed.owl PBC4|biliary cirrhosis, primary, 4 Orphanet:186|OMIM:614220|UMLS:C3280201 owl:Class MONDO:0005388 biolink:NamedThing primary biliary cholangitis Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. tmpte7i6ely_mondo_relaxed.owl biliary liver cirrhosis|PBC|primary biliary cirrhosis|chronic nonsuppurative destructive cholangitis|cholestatic cirrhosis|chronic non-suppurative destructive cholangitis|biliary cirrhosis, primary|familial primary biliary cirrhosis|Hanot syndrome|primary Bilary cirrhosis (PBC) DOID:12236|ICD10:K74.5|ICD9:571.6|OMIMPS:109720|Orphanet:186|UMLS:C0008312|MedDRA:10019137|EFO:0004267|NCIT:C27167|OMIM:614220|MedDRA:10004661|ICD10:K74.3|OMIM:109720|GARD:0007459|SCTID:31712002|OMIM:614221|OMIM:613007|MESH:D008105|OMIM:613008 owl:Class MONDO:0005419 biolink:NamedThing metamphetamine dependence A drug dependence that is a psychological dependency on the regular use of metamphetamine. tmpte7i6ely_mondo_relaxed.owl EFO:0004701 owl:Class HGNC:6181 biolink:NamedThing ITPR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025699 biolink:NamedThing Coffin-Siris syndrome 12 tmpte7i6ely_mondo_relaxed.owl CSS12 OMIM:619325 owl:Class CHEBI:47868 biolink:NamedThing photosensitizing agent A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. tmpte7i6ely_mondo_relaxed.owl photosensitising agent owl:Class FOODON:03420237 biolink:NamedThing floret or flower The pigmented blossom of a plant that contains the reproductive organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03420144 biolink:NamedThing plant above surface, excluding fruit and seed tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:121226 biolink:NamedThing Pediculus humanus capitis tmpte7i6ely_mondo_relaxed.owl Pediculus capitis|human head lice|human head louse PMID:18434207|GC_ID:1|PMID:23049889 ncbi_taxonomy owl:Class MONDO:0015768 biolink:NamedThing trisomy 5p Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit. tmpte7i6ely_mondo_relaxed.owl trisomy of the short arm of chromosome 5|partial trisomy 5p|trisomy type 5p|5p duplication|chromosome 5p duplication|Duplication of the short arm of chromosome 5|Duplication 5p|5p trisomy GARD:0006093|Orphanet:1742|ICD10:Q92.2 owl:Class MONDO:0005418 biolink:NamedThing non-compaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. tmpte7i6ely_mondo_relaxed.owl EFO:0004686 owl:Class UBERON:0005457 biolink:NamedThing left thymus lobe tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002552 biolink:NamedThing fibroblast of gingiva tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:09:12Z cell owl:Class MONDO:0001897 biolink:NamedThing bilateral hyperactive labyrinth tmpte7i6ely_mondo_relaxed.owl hyperactive labyrinth, bilateral|hyperactive bilateral labyrinthine dysfunction UMLS:C0155516|ICD9:386.52|DOID:14165|SCTID:194373002 owl:Class GO:0003707 biolink:NamedThing steroid hormone receptor activity Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007776 biolink:NamedThing hypersensitivity pneumonitis, familial An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary hypersensitivity pneumonitis|hypersensitivity pneumonitis, familial OMIM:145300|UMLS:C1840386|MESH:C536846 owl:Class MONDO:0015678 biolink:NamedThing dysplasia of head of femur, Meyer type Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. tmpte7i6ely_mondo_relaxed.owl Orphanet:168621|ICD10:Q78.8|SCTID:715861004|UMLS:C4274970 owl:Class MONDO:0016775 biolink:NamedThing lichen planus pemphigoides Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid. tmpte7i6ely_mondo_relaxed.owl LP pemphigoides SCTID:238653005|Orphanet:254478|ICD10:L43.8|GARD:0012677|UMLS:C0406369 https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides owl:Class NCBITaxon:11053 biolink:NamedThing Dengue virus 1 tmpte7i6ely_mondo_relaxed.owl dengue virus type I|type 1 dengue virus DEN-1|dengue virus type 1 DEN1|dengue virus-1 DEN-1|dengue type 1 D1 virus|Dengue virus type 1 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012410 biolink:NamedThing Finnish upper limb-onset distal myopathy Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. tmpte7i6ely_mondo_relaxed.owl MPD3|myopathy, distal, 3|distal myopathy type 3 UMLS:C1864706|OMIM:610099|Orphanet:399086|ICD10:G71.0|SCTID:763718009 owl:Class MONDO:0009199 biolink:NamedThing ethanolaminosis tmpte7i6ely_mondo_relaxed.owl ethanolamine kinase deficiency|ethanolaminosis SCTID:64235006|MESH:C562651|ICD9:270.8|UMLS:C0268423|OMIM:227150 owl:Class HGNC:7180 biolink:NamedThing MN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0025030 biolink:NamedThing digital dermatitis in cattle Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease. tmpte7i6ely_mondo_relaxed.owl foot wart, bovine|foot Warts, bovine|digital Dermatitides|dermatitis, bovine digital|hairy footwart, bovine|footwart, bovine hairy|Dermatitides, digital|digital dermatitis, bovine|papillomatosis, digital|dermatitis, digital|digital papillomatosis|Ovine digital dermatitis|digital Dermatitides, Ovine|papillomatous digital Dermatitides|Warts, bovine foot|papillomatous digital dermatitis|digital dermatitis, Ovine|digital Papillomatoses|footwarts, bovine hairy|Papillomatoses, digital|wart, bovine foot|digital dermatitis, papillomatous|bovine digital Dermatitides|bovine digital dermatitis|digital Dermatitides, papillomatous|digital Dermatitides, bovine|Dermatitides, bovine digital|hairy footwarts, bovine|bovine hairy footwarts|Ovine digital Dermatitides|bovine foot wart|bovine foot Warts|bovine hairy footwart MESH:D058066 owl:Class MONDO:0100410 biolink:NamedThing acute myeloid leukemia, t(16;21)(p11;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.) tmpte7i6ely_mondo_relaxed.owl AML, t(16;21)(p11;q22)|AML, t(16;21)(p11.2;q22.2) NCIT:C36616 owl:Class HGNC:1241 biolink:NamedThing C1QA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023158 biolink:NamedThing Fitz-Hugh-Curtis syndrome Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics. tmpte7i6ely_mondo_relaxed.owl perihepatitis syndrome|gonococcal perihepatitis SCTID:237041005|MESH:C537936|GARD:0006452 Editor note: check taxon https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome owl:Class MONDO:0000615 biolink:NamedThing progesterone-receptor positive breast cancer tmpte7i6ely_mondo_relaxed.owl DOID:0060077 Editor note: check why not in NCIT; note also that triple-positive should be classified here owl:Class HGNC:7459 biolink:NamedThing MT-ND4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010648 biolink:NamedThing major affective disorder 2 tmpte7i6ely_mondo_relaxed.owl MAFD2|major affective disorder 2|manic-depressive illness|MAJOR affective disorder 2|manic-depressive psychosis, X-linked|bipolar affective disorder DOID:0080221|OMIM:309200|MESH:C564108 owl:Class MONDO:0020638 biolink:NamedThing superficial spreading melanoma A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi. tmpte7i6ely_mondo_relaxed.owl superficial spreading malignant skin melanoma|superficial spreading melanoma of the skin|superficial spreading cutaneous (skin) melanoma|superficial spreading malignant melanoma of the skin|SSM|superficial spreading melanoma|pagetoid melanoma|superficial spreading melanoma of skin|cutaneous superficial spreading melanoma|superficial spreading malignant melanoma of skin NCIT:C9152|ICDO:8743/3|SCTID:254730000 owl:Class MONDO:0100130 biolink:NamedThing adult acute respiratory distress syndrome A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. tmpte7i6ely_mondo_relaxed.owl adult RDS|adult ARDS|respiratory distress syndrome, adult|adult respiratory distress syndrome, ARDS|adult respiratory distress syndrome|ARDS|adult acute respiratory distress syndrome SCTID:67782005|UMLS:C0035222|DOID:11394|MESH:D012128|Orphanet:70578 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002660 biolink:NamedThing blepharochalasis An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. tmpte7i6ely_mondo_relaxed.owl blepharochalasis (disease)|blepharochalasis blepharochalasis (disease) ICD10:H02.3|UMLS:C0005742|ICD9:374.34|DOID:348|SCTID:47704002|HP:0010749 owl:Class MONDO:0003143 biolink:NamedThing angiokeratoma A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). tmpte7i6ely_mondo_relaxed.owl cutaneous angiokeratoma|angiokeratoma of the skin|skin angiokeratoma|angiokeratoma (morphologic abnormality)|angiokeratoma of skin SCTID:254788004|NCIT:C4488|MESH:D000794|CSP:2007-0683|DOID:479|UMLS:C0002985|UMLS:C0346075 owl:Class MONDO:0015450 biolink:NamedThing triatrial heart A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. tmpte7i6ely_mondo_relaxed.owl Cor triatriatum ICD10:Q24.2|Orphanet:1463|NCIT:C84651|ICD9:746.82|SCTID:55510008|GARD:0006194 owl:Class UBERON:0009745 biolink:NamedThing lymph node medullary cord tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010646 biolink:NamedThing macular dystrophy, X-linked tmpte7i6ely_mondo_relaxed.owl macular dystrophy, X-linked UMLS:C1839842|OMIM:309100|MESH:C564110 owl:Class MONDO:0018563 biolink:NamedThing adactyly of foot tmpte7i6ely_mondo_relaxed.owl congenital absence of toes SCTID:66345008|ICD10:Q72.8|Orphanet:435623 owl:Class HP:0001879 biolink:NamedThing Abnormal eosinophil morphology An abnormal count or structure of eosinophils. tmpte7i6ely_mondo_relaxed.owl Abnormality of eosinophils UMLS:C4025738 Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. human_phenotype owl:Class GO:0070009 biolink:NamedThing serine-type aminopeptidase activity Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001591 biolink:NamedThing curvature A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010273 biolink:NamedThing lymphoma, Hodgkin, X-linked pseudoautosomal tmpte7i6ely_mondo_relaxed.owl Hodgkin disease, X-linked Pseudoautosomal|lymphoma, Hodgkin, X-linked pseudoautosomal GARD:0009899|OMIM:300221|Orphanet:391|MESH:C538326 owl:Class MONDO:0024744 biolink:NamedThing childhood choroid plexus neoplasm A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood choroid plexus neoplasm|choroid plexus neoplasm of childhood|choroid plexus neoplasm|pediatric choroid plexus neoplasm NCIT:C42080 owl:Class MONDO:0001692 biolink:NamedThing pedophilia A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children. tmpte7i6ely_mondo_relaxed.owl Paedophilia SCTID:84002002|ICD9:302.2|ICD10:F65.4|NCIT:C94355|MESH:D010378|DOID:13351 owl:Class MONDO:0019945 biolink:NamedThing solar urticaria Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation. tmpte7i6ely_mondo_relaxed.owl Orphanet:97230|MedDRA:10041307|SCTID:10347006|UMLS:C0263610|ICD10:L56.3|ICD9:708.8 owl:Class UBERON:0002191 biolink:NamedThing subiculum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017281 biolink:NamedThing renal caliceal diverticuli-deafness syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN202834|Orphanet:2838 owl:Class MONDO:0004927 biolink:NamedThing dacryocystocele A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. tmpte7i6ely_mondo_relaxed.owl lacrimal mucocele NCIT:C98968|DOID:9939|ICD9:375.43 owl:Class MONDO:0011465 biolink:NamedThing infundibulocystic basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma, infundibulocystic|skin infundibulocystic basal cell carcinoma|basal cell carcinoma with follicular differentiation OMIM:604451|MESH:C537655|DOID:4279|UMLS:C1304297|NCIT:C27540|GARD:0009788 https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic owl:Class GO:0050881 biolink:NamedThing musculoskeletal movement The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050879 biolink:NamedThing multicellular organismal movement Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010101 biolink:NamedThing Teebi-Shaltout syndrome Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. tmpte7i6ely_mondo_relaxed.owl craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage|TBSH|Teebi Shaltout syndrome|Teebi-Shaltout syndrome GARD:0005125|OMIM:272950|MESH:C536950|Orphanet:3291|UMLS:C1848912 https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome owl:Class MONDO:0005624 biolink:NamedThing atrophic thyroiditis Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. tmpte7i6ely_mondo_relaxed.owl UMLS:C0238183|EFO:0006813|SCTID:83664006 It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient owl:Class ECTO:7000058 biolink:NamedThing exposure to gaseous environmental material A exposure event involving the interaction of an exposure receptor to gaseous environmental material. tmpte7i6ely_mondo_relaxed.owl gaseous environmental material exposure owl:Class HGNC:6233 biolink:NamedThing KCNC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007448 biolink:NamedThing familial dermatographia Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own. tmpte7i6ely_mondo_relaxed.owl familial dermatographism|VBU|dermographism|dermatographia|dermo-distortive urticaria|dermographism, familial|dermatographic urticaria|Dermatographism, familial|vibratory urticaria|Dermodistortive urticaria|vibratory angioedema|familial dermographism|DDU EFO:1000685|MESH:C536612|NCIT:C111885|ICD9:708.3|DOID:743|GARD:0009480|SCTID:7632005|OMIM:125635|SCTID:402601007|ICD10:L50.3 https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism owl:Class MONDO:0006599 biolink:NamedThing physical urticaria A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously. tmpte7i6ely_mondo_relaxed.owl SCTID:402601007|DOID:0060220|EFO:1000754 Editor note: use ECTO to axiomatize owl:Class NCBITaxon:63330 biolink:NamedThing Hendra henipavirus tmpte7i6ely_mondo_relaxed.owl Equine morbillivirus|Hendra virus PMID:7701348|GC_ID:1 NCBITaxon:45337 ncbi_taxonomy owl:Class NCBITaxon:260964 biolink:NamedThing Henipavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002042 biolink:NamedThing mechanical ectropion An ectropion with a mechanical etiology. tmpte7i6ely_mondo_relaxed.owl SCTID:45020000|ICD9:374.12|DOID:1569|UMLS:C0155194|ICD10:H02.121-129 owl:Class MONDO:0018610 biolink:NamedThing early-onset posterior subcapsular cataract tmpte7i6ely_mondo_relaxed.owl UMLS:CN237646|Orphanet:441447|ICD10:H26.0 owl:Class MONDO:0004130 biolink:NamedThing anus basaloid carcinoma An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading. tmpte7i6ely_mondo_relaxed.owl anus basaloid squamous cell carcinoma|basaloid carcinoma of the anus|anal basaloid carcinoma|basaloid carcinoma of anus UMLS:C0280470|DOID:7174|NCIT:C8256 owl:Class NCBITaxon:2697495 biolink:NamedThing Spiralia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33317 biolink:NamedThing Protostomia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:18957 biolink:NamedThing MAGI2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003211 biolink:NamedThing nasal cavity adenocarcinoma A carcinoma that arises from glandular epithelial cells of the nasal cavity tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of nasal cavity|adenocarcinoma of the nasal cavity|nasal cavity adenocarcinoma UMLS:C1334920|NCIT:C6015|DOID:4930 owl:Class GO:0042866 biolink:NamedThing pyruvate biosynthetic process The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate. tmpte7i6ely_mondo_relaxed.owl pyruvate anabolism|pyruvate biosynthesis|pyruvate synthesis|pyruvate formation owl:Class MONDO:0045069 biolink:NamedThing minor salivary gland carcinoma A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl carcinoma of the minor salivary gland|minor salivary gland carcinoma|minor salivary gland cancer|carcinoma of minor salivary gland UMLS:C1334771|NCIT:C5957 owl:Class NCBITaxon:27458 biolink:NamedThing Chrysops tmpte7i6ely_mondo_relaxed.owl deer flies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014237 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 76 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 76|deafness, autosomal recessive 76|autosomal recessive nonsyndromic deafness type 76|SYNE4 autosomal recessive nonsyndromic deafness|DFNB76|autosomal recessive deafness 76|autosomal recessive nonsyndromic deafness 76|autosomal recessive nonsyndromic deafness caused by mutation in SYNE4 DOID:0110524|Orphanet:90636|ICD10:H90.3|OMIM:615540|UMLS:C3147083 owl:Class MONDO:0010134 biolink:NamedThing Pendred syndrome Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. tmpte7i6ely_mondo_relaxed.owl genetic defect in thyroid hormonogenesis 2B|TDH2B|goiter-deafness syndrome|deafness with goiter|autosomal recessive sensorineural hearing impairment and goiter|Pendred syndrome|PDS|thyroid dyshormonogenesis 2B|hypothyroidism, congenital, due to dyshormonogenesis, 2B|thyroid hormonogenesis, genetic defect in, 2B|congenital hypothyroidism due to dyshormonogenesis 2B SCTID:70348004|NCIT:C121745|Orphanet:705|UMLS:C0271829|ICD10:E07.1|GARD:0004271|MESH:C536648|OMIM:274600|DOID:0060744 owl:Class MONDO:0006832 biolink:NamedThing limited scleroderma The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. tmpte7i6ely_mondo_relaxed.owl systemic sclerosis, limited UMLS:C0748540|MESH:D045745|DOID:1577|EFO:1001017|SCTID:298285004|SCTID:299276009 owl:Class UBERON:0008432 biolink:NamedThing thoracic vertebral foramen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019770 biolink:NamedThing X-linked dominant intellectual disability-epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN227687|Orphanet:93951 owl:Class MONDO:0015995 biolink:NamedThing melorheostosis with osteopoikilosis Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. tmpte7i6ely_mondo_relaxed.owl MSBD syndrome|dystrophy osseous sclerosing mixed|mixed sclerosing bone dystrophy UMLS:C2931505|GARD:0003690|UMLS:CN200621|Orphanet:1879|GARD:0003800|ICD10:M85.8 owl:Class MONDO:0012858 biolink:NamedThing primary CD59 deficiency tmpte7i6ely_mondo_relaxed.owl primary CD59 deficiency|HACD59|CD59 deficiency|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy OMIM:612300|ICD10:D84.1|Orphanet:169464|UMLS:C2676767|MESH:C567355 owl:Class MONDO:0009887 biolink:NamedThing desquamative interstitial pneumonia A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. tmpte7i6ely_mondo_relaxed.owl respiratory bronchiolitis interstitial lung disease|interstitial lung disease, desquamative|interstitial pneumonitis, desquamative, familial|respiratory bronchiolitis-associated interstitial lung disease|desquamative interstitial pneumonia|DIP|familial desquamative interstitial pneumonitis|RBILD|pneumonitis, desquamative interstitial, familial|ILD, desquamative|pneumonia, desquamative interstitial, familial OMIM:263000|ICD10:J84.117|NCIT:C35288|ICD9:516.34|MESH:C562470|Orphanet:98852|ICD9:516.37|UMLS:C0238378|ICD10:J84.115|ICD10:J84.1|SCTID:8549006|DOID:0050158 owl:Class MONDO:0005765 biolink:NamedThing foot and mouth disease A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness. tmpte7i6ely_mondo_relaxed.owl MESH:D005536|UMLS:C0016514|EFO:0007277 owl:Class MONDO:0009638 biolink:NamedThing mitochondrial myopathy with a defect in mitochondrial-protein transport tmpte7i6ely_mondo_relaxed.owl mitochondrial myopathy with a defect in mitochondrial-protein transport UMLS:C1855034|OMIM:251945|MESH:C565376 owl:Class MONDO:0009828 biolink:NamedThing palant cleft palate syndrome tmpte7i6ely_mondo_relaxed.owl unusual facies, cleft palate, mental retardation, and limb abnormalities|unusual facies, cleft palate, intellectual disability, and limb abnormalities|Palant cleft palate syndrome OMIM:260150|MESH:C538102|GARD:0004198|UMLS:C1850102 https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome owl:Class MONDO:0006408 biolink:NamedThing sex hormone-producing adrenal cortex adenoma A rare adenoma of the adrenal cortex that produces androgens or estrogens. tmpte7i6ely_mondo_relaxed.owl Sex hormone producing adrenal cortical adenoma|Sex hormone producing adrenal cortex adenoma EFO:1000523|UMLS:C1710067|NCIT:C48452 owl:Class MONDO:0003811 biolink:NamedThing ovarian seromucinous tumor A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. tmpte7i6ely_mondo_relaxed.owl mixed epithelial neoplasm of ovary|mixed epithelial neoplasm of the ovary|ovarian mixed epithelial tumor|mixed epithelial tumor of ovary|ovarian Seromucinous tumor|ovarian mixed epithelial neoplasm|mixed epithelial tumor of the ovary SCTID:254855000|DOID:6211|UMLS:C0346166|NCIT:C4508|EFO:1000425 owl:Class MONDO:0017526 biolink:NamedThing polydactyly of a triphalangeal thumb, bilateral tmpte7i6ely_mondo_relaxed.owl bilateral PPD2|preaxial polydactyly type 2, bilateral UMLS:CN203257|Orphanet:295150|ICD10:Q69.1 owl:Class MONDO:0004219 biolink:NamedThing polyvesicular vitelline pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. tmpte7i6ely_mondo_relaxed.owl testicular yolk Sac tumor, polyvesicular vitelline pattern DOID:7435|NCIT:C39930|UMLS:C1515311 owl:Class MONDO:0006380 biolink:NamedThing pleural sarcomatoid mesothelioma Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma. tmpte7i6ely_mondo_relaxed.owl pleura sarcomatoid mesothelioma|pleural sarcomatoid mesothelioma|sarcomatoid mesothelioma of pleura NCIT:C45663|UMLS:C1709578|EFO:1000486 owl:Class HP:0011368 biolink:NamedThing Epidermal thickening Thickening of the epidermal layer of the skin. tmpte7i6ely_mondo_relaxed.owl Abnormality of keratinization UMLS:C4020752|UMLS:C0494876 peter 2012-03-03T12:25:18Z HP:0001035 human_phenotype owl:Class HGNC:30528 biolink:NamedThing DNAJC19 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014532 biolink:NamedThing white matter lamina of cerebral hemisphere tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006306 biolink:NamedThing mixed lobular and ductal breast carcinoma A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor. tmpte7i6ely_mondo_relaxed.owl mixed lobular and ductal carcinoma of breast|breast mixed ductal and lobular carcinoma|mixed lobular and ductal carcinoma|mixed ductal and lobular carcinoma of the breast|ductal and lobular carcinoma|mixed ductal and lobular carcinoma of breast|mixed lobular and ductal breast carcinoma|mixed ductal and lobular breast carcinoma|mixed lobular and ductal carcinoma of the breast NCIT:C5160|ONCOTREE:MDLC|SCTID:444604002|EFO:1000382|ICD9:174.8|UMLS:C0334384 owl:Class MONDO:0020681 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 1 tmpte7i6ely_mondo_relaxed.owl adducted thumb-clubfoot syndrome|Dundar syndrome|Arthrogryposis, Distal, with peculiar facies and hydronephrosis|EDSMC1|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|EDSMC|Ehlers-Danlos syndrome, musculocontractural type, 1|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, type Vib, formerly NCIT:C168975|OMIM:601776 owl:Class MONDO:0024533 biolink:NamedThing pulmonary hypertension, primary, 1 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. tmpte7i6ely_mondo_relaxed.owl primary pulmonary hypertension caused by mutation in BMPR2|Pph1 with Hht|PHT|pulmonary hypertension, primary, Fenfluramine-associated|pulmonary arterial hypertension|PPH1|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|pulmonary hypertension, primary, 1|BMPR2 primary pulmonary hypertension|pulmonary hypertension, primary, Dexfenfluramine-associated OMIM:178600|Orphanet:422|UMLS:C3203102 owl:Class MONDO:0018001 biolink:NamedThing inverse Klippel-Trenaunay syndrome tmpte7i6ely_mondo_relaxed.owl cutaneous hemangioma with muscle or bone atrophy|inverse Klippel-Trénaunay syndrome ICD10:Q87.2|Orphanet:329324|UMLS:CN204209 owl:Class MONDO:0025167 biolink:NamedThing reticuloendotheliosis, avian A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant. tmpte7i6ely_mondo_relaxed.owl Avian Reticuloendothelioses|Avian reticuloendotheliosis|Reticuloendothelioses, Avian UMLS:C0276487|MESH:D055761 owl:Class MONDO:0004467 biolink:NamedThing mature gastric teratoma A benign teratoma that arises from the stomach. tmpte7i6ely_mondo_relaxed.owl mature teratoma of stomach|mature gastric teratoma|stomach mature teratoma|mature teratoma of the stomach UMLS:C1334635|NCIT:C5260|DOID:8118 owl:Class MONDO:0043762 biolink:NamedThing tubal pregnancy An abnormal pregnancy in which the conception is implanted in the fallopian tube. tmpte7i6ely_mondo_relaxed.owl fallopian pregnancy|fallopian tube pregnancy|fallopian tube ectopic pregnancy|ectopic pregnancy of fallopian tube|Pregnancies, tubal|tubal Pregnancies|tubal pregnancy NCIT:C92946|SCTID:79586000|MESH:D011274 owl:Class MONDO:0018069 biolink:NamedThing distal trisomy 17q Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. tmpte7i6ely_mondo_relaxed.owl trisomy 17qter|telomeric duplication 17q|distal trisomy type 17q|distal duplication 17q ICD10:Q92.3|SCTID:766051001|Orphanet:3379 owl:Class MONDO:0007546 biolink:NamedThing myeloproliferative disorder, chronic, with eosinophilia tmpte7i6ely_mondo_relaxed.owl MPE|eosinophils, malignant proliferation of|myeloproliferative disorder, chronic, with eosinophilia UMLS:C1851585|Orphanet:86830|OMIM:131440|MESH:C565054|DOID:0111344 owl:Class MONDO:0032692 biolink:NamedThing Galloway-Mowat syndrome 7 tmpte7i6ely_mondo_relaxed.owl GAMOS7|GALLOWAY-MOWAT SYNDROME 7 OMIM:618348 owl:Class MONDO:0022894 biolink:NamedThing craniosynostosis autosomal dominant tmpte7i6ely_mondo_relaxed.owl GARD:0001588 https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant owl:Class MONDO:0100374 biolink:NamedThing acute myeloid leukemia, t(16;16)(p13.1;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) tmpte7i6ely_mondo_relaxed.owl AML, t(16;16)(p13;q22)|AML, t(16;16)(p13.1;q22)|AML, t(16;16)(p13.1q22.1)|AML, t(16;16)(p13.1q22)|AML, t(16;16)(p13q22)|AML, t(16;16)(p13.1;q22.1) NCIT:C27759|NCIT:C9019 owl:Class HGNC:6295 biolink:NamedThing KCNQ1OT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5962 biolink:NamedThing IL10 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016620 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016903 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors owl:Class MONDO:0032835 biolink:NamedThing spondyloepiphyseal dysplasia, nishimura type tmpte7i6ely_mondo_relaxed.owl SEDN|SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE OMIM:618618 owl:Class MONDO:0010103 biolink:NamedThing teeth, fused tmpte7i6ely_mondo_relaxed.owl teeth, fused SCTID:1744008|OMIM:273000 owl:Class MONDO:0030893 biolink:NamedThing leukoencephalopathy, progressive, infantile-onset, with or without deafness tmpte7i6ely_mondo_relaxed.owl LEPID OMIM:619147 owl:Class NCBITaxon:84526 biolink:NamedThing Heterophyidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002131 biolink:NamedThing jaw cancer A malignant neoplasm involving the jaw skeleton tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of jaw skeleton|cancer of jaw skeleton|neoplasm of jaw|jaw skeleton cancer|jaw neoplasm|malignant jaw skeleton neoplasm MESH:D007573|EFO:0007333|DOID:1862 owl:Class MONDO:0013030 biolink:NamedThing dilated cardiomyopathy 1BB Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, type 1Bb|DSG2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1BB|CMD1BB|dilated cardiomyopathy type 1BB|familial isolated dilated cardiomyopathy caused by mutation in DSG2 OMIM:612877|UMLS:C2752072|DOID:0110458|ICD10:I42.0|MESH:C567877 owl:Class ENVO:02000101 biolink:NamedThing fibrous dust Dust which is composed of fibrous material. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000131 biolink:NamedThing glacial feature A hydrographic feature characterized by the dominance of snow or ice. tmpte7i6ely_mondo_relaxed.owl LandIce|glacer|Ice|glacier feature|glacial landform owl:Class MONDO:0011029 biolink:NamedThing myeloid tumor suppressor tmpte7i6ely_mondo_relaxed.owl myeloid leukemia-related locus|myeloid tumor suppressor OMIM:601308 owl:Class MONDO:0020433 biolink:NamedThing ectasia of the left appendage Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. tmpte7i6ely_mondo_relaxed.owl dilatation of the left appendage|dilatation of the left auricle|ectasia of the left atrial appendage|ectasia of the left auricle|dilatation of the left atrial appendage ICD10:Q20.8|Orphanet:99102 owl:Class CHEBI:76857 biolink:NamedThing EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*). tmpte7i6ely_mondo_relaxed.owl EC 1.3.1.* inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* inhibitors owl:Class MONDO:0010230 biolink:NamedThing intellectual disability, X-linked 23 tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 23|MRX23|mental retardation, X-linked 23 UMLS:C0796229|OMIM:300046|MESH:C563144 owl:Class MONDO:0100340 biolink:NamedThing Friedreich ataxia 1 Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene. tmpte7i6ely_mondo_relaxed.owl FRDA1|Friedreich ataxia type 1|Friedreich ataxia 1 UMLS:C1856689|OMIM:229300|MESH:C565561 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000693 biolink:NamedThing bipolar II disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. tmpte7i6ely_mondo_relaxed.owl bipolar 2 disorder|bipolar II disorder|bipolar ll disorder DOID:0060166|ICD9:296.89|SCTID:83225003 owl:Class MONDO:0016476 biolink:NamedThing Beckwith-Wiedemann syndrome due to CDKN1C mutation tmpte7i6ely_mondo_relaxed.owl OMIM:130650|Orphanet:231120|ICD10:Q87.3|UMLS:CN201471 owl:Class MONDO:0022776 biolink:NamedThing cleft lip and/or palate with mucous cysts of lower tmpte7i6ely_mondo_relaxed.owl GARD:0001372 https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower owl:Class UBERON:0001726 biolink:NamedThing papilla of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013724 biolink:NamedThing bacteremia, susceptibility to, 2 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene. tmpte7i6ely_mondo_relaxed.owl bacteremia, susceptibility to, 2|CISH bacteremia, susceptibility|bacteremia, susceptibility to, type 2|BACTS2|bacteremia, susceptibility caused by mutation in CISH OMIM:614383 owl:Class MONDO:0000108 biolink:NamedThing bacteremia, susceptibility tmpte7i6ely_mondo_relaxed.owl UMLS:C3280646 owl:Class NCBITaxon:121752 biolink:NamedThing Lacazia loboi tmpte7i6ely_mondo_relaxed.owl Paracoccidioides loboi (nom. inval.)|Paracoccidioides loboi GC_ID:1 NCBITaxon:38947 ncbi_taxonomy owl:Class NCBITaxon:121739 biolink:NamedThing Lacazia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020023 biolink:NamedThing respiratory or mediastinal malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:98045 owl:Class HGNC:4431 biolink:NamedThing GOSR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032762 biolink:NamedThing hearing loss, autosomal recessive 115 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 115|DFNB115 DOID:0111643|OMIM:618457 owl:Class MONDO:0006363 biolink:NamedThing peritoneal multicystic mesothelioma A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare. tmpte7i6ely_mondo_relaxed.owl benign multicystic peritoneal mesothelioma|multilocular peritoneal inclusion cysts|multilocular peritoneal inclusion cyst|peritoneal cystic mesothelioma|peritoneal multicystic mesothelioma|BMPM|multilocular peritoneal cysts|multicystic mesothelioma of peritoneum|multicystic mesothelioma|benign cystic peritoneal mesothelioma|multicystic mesothelioma of the peritoneum Orphanet:168816|UMLS:C1334818|ICD10:C45.1|GARD:0010777|EFO:1000468|NCIT:C6536|SCTID:716650003 owl:Class MONDO:0015683 biolink:NamedThing primary malignant peritoneal tumor tmpte7i6ely_mondo_relaxed.owl Orphanet:168807|UMLS:CN200181|ICD10:C48.2|ICD10:C48.1|ICD10:C45.1 owl:Class MONDO:0016270 biolink:NamedThing low-grade neuroendocrine tumor of the corpus uteri Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. tmpte7i6ely_mondo_relaxed.owl well-differentiated neuroendocrine neoplasm of the endometrium|low-grade neuroendocrine tumor of the uterine corpus|well-differentiated neuroendocrine tumor of the corpus uteri|well-differentiated neuroendocrine tumor of the endometrium ICD10:C54.2|Orphanet:213736|ICD10:C54.0|UMLS:CN201059|ICD10:C54.1|ICD10:C54.8|ICD10:C54.3 owl:Class SO:0001483 biolink:NamedThing SNV SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. tmpte7i6ely_mondo_relaxed.owl single nucleotide variant owl:Class HGNC:1371 biolink:NamedThing CA12 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010063 biolink:NamedThing tympanic cavity epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002597 biolink:NamedThing notochordal tumor A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. tmpte7i6ely_mondo_relaxed.owl notochord tumor|notochord cancer|cancer of notochord|notochord neoplasm|notochordal tumor|notochordal neoplasm|neoplasm of notochord|tumor of notochord|notochordal cancer|malignant notochord neoplasm|malignant neoplasm of notochord NCIT:C7063|UMLS:C1335069|DOID:3303 owl:Class MONDO:0023704 biolink:NamedThing Martinez Monasterio Pinheiro syndrome A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl cleft lip/palate oligodontia syndactyly hair alterations|cleft lip-palate-oligodontia-syndactyly-hair alterations GARD:0003404|OMIM:119580|MESH:C536027|UMLS:C2931089 https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome owl:Class MONDO:0030503 biolink:NamedThing cholestasis, progressive familial intrahepatic, 7, with or without hearing loss tmpte7i6ely_mondo_relaxed.owl PFIC7 OMIM:619658 owl:Class UBERON:0034994 biolink:NamedThing hindbrain cortical intermediate zone tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:02000140 biolink:NamedThing fluid environmental material A liquid or a gas. tmpte7i6ely_mondo_relaxed.owl fluid owl:Class MONDO:0001101 biolink:NamedThing fat necrosis of breast Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment. tmpte7i6ely_mondo_relaxed.owl fat Necrosis of the breast|breast fat necrosis UMLS:C0156321|ICD9:611.3|DOID:10691|ICD10:N64.1|SCTID:21381006|NCIT:C3661 owl:Class MONDO:0006770 biolink:NamedThing giant cell reparative granuloma A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. tmpte7i6ely_mondo_relaxed.owl central giant cell granuloma|central giant cell (reparative) granuloma|GCLSB|central giant cell reparative granuloma of jaw|giant cell lesion of small bones DOID:1866|UMLS:C0162375|MESH:D006101|ICD10:M27.1|SCTID:15350006|NCIT:C121893|ICD9:526.3|EFO:1000950 owl:Class MONDO:0005674 biolink:NamedThing bone giant cell tumor A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. tmpte7i6ely_mondo_relaxed.owl Osteoclastoma, benign|giant cell neoplasm of bone|giant cell tumor, benign|giant cell tumor of the bone|osteoclastoma|giant cell tumor of bone NOS (morphologic abnormality)|benign bone giant cell tumor|GCT of bone|giant cell tumor of bone (morphologic abnormality)|giant cell myeloma|giant cell tumor of bone Orphanet:363976|ICD10:D48.0|ONCOTREE:GCTB|MESH:D018212|SCTID:697970009|GARD:0013046|NCIT:C121932|HP:0011847|DOID:4305|UMLS:C0206638|EFO:0007176 MONDO:0018219 owl:Class MONDO:0001369 biolink:NamedThing chronic laryngitis Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes. tmpte7i6ely_mondo_relaxed.owl laryngitis, chronic UMLS:C0155836|SCTID:29951006|ICD9:476.0|DOID:11797|NCIT:C26975|ICD10:J37.0 owl:Class MONDO:0013776 biolink:NamedThing spastic ataxia 5 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. tmpte7i6ely_mondo_relaxed.owl spastic ataxia type 5|autosomal recessive spastic ataxia type 5|spastic ataxia 5, autosomal recessive|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|SPAX5|AFG3L2-related spastic ataxia-neuropathy syndrome|autosomal recessive spastic ataxia caused by mutation in AFG3L2|AFG3L2 autosomal recessive spastic ataxia ICD10:G11.4|OMIM:614487|UMLS:C3280977|Orphanet:313772|DOID:0050944 owl:Class HP:0033100 biolink:NamedThing Increased proteinogenic amino acid level in urine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpte7i6ely_mondo_relaxed.owl peter human_phenotype owl:Class MONDO:0002441 biolink:NamedThing Jervell and Lange-Nielsen syndrome An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. tmpte7i6ely_mondo_relaxed.owl prolonged QT interval in EKG and sudden death|long QT interval-deafness syndrome|Jervell and Lange-Nielson syndrome|Jervell Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome type 1|JLNS1|Jervell and Lange-Nielsen syndrome 1|Jervell and Lange Nielsen syndrome|Surdo-cardiac syndrome|Cardioauditory syndrome of Jervell and Lange-Nielsen|deafness, congenital, and functional heart disease|Jervell-Lange Nielsen syndrome GARD:0003048|MESH:D029593|OMIMPS:220400|MedDRA:10057936|NCIT:C84793|Orphanet:768|SCTID:373905003|UMLS:C0022387|ICD10:I45.8|Orphanet:90647|DOID:2842|OMIM:220400|OMIM:612347 https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome owl:Class UBERON:0008115 biolink:NamedThing surface of cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037746 biolink:NamedThing malignant vaginal mixed epithelial and mesenchymal neoplasm A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. tmpte7i6ely_mondo_relaxed.owl malignant vaginal mixed epithelial and mesenchymal neoplasm|malignant vaginal mixed epithelial and mesenchymal tumor NCIT:C40276|UMLS:C1512974 owl:Class MONDO:0007490 biolink:NamedThing carpotarsal osteochondromatosis Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. tmpte7i6ely_mondo_relaxed.owl osteochondromatosis, dominant carpotarsal|dominant carpotarsal osteochondromatosis|Maroteaux-Le Merrer-Bensahel syndrome|Maroteaux Le Merrer Bensahel syndrome|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas OMIM:127820|UMLS:C1300233|GARD:0001128|ICD10:D16.9|SCTID:389272007|MESH:C565076|Orphanet:2767 https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis owl:Class MONDO:0017322 biolink:NamedThing disorders of vitamin D metabolism tmpte7i6ely_mondo_relaxed.owl UMLS:CN202954|Orphanet:289098 owl:Class UBERON:0012378 biolink:NamedThing muscle layer of urinary bladder tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001242 biolink:NamedThing canopy A vegetation layer which is formed by a collection of individual plant crowns, themselves constituting part of the aboveground portion of a plant community. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000355 biolink:NamedThing vegetation layer A layer which is determined by a form of vegetation. tmpte7i6ely_mondo_relaxed.owl woodland stratum|woodland layer|forest layer|forest stratum owl:Class MONDO:0007015 biolink:NamedThing viral meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. tmpte7i6ely_mondo_relaxed.owl ICD9:321.2|UMLS:C0025297|SCTID:58170007|ICD9:047.8|ICD10:A87.9|MESH:D008587|ICD9:047.9|ICD10:A87|NCIT:C118298|MedDRA:10047469|EFO:1001236|DOID:10310 owl:Class MONDO:0012126 biolink:NamedThing familial avascular necrosis of femoral head Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. tmpte7i6ely_mondo_relaxed.owl avascular NECROSIS of femoral head, primary|ischemic Necrosis of femoral head|femoral head, avascular Necrosis of|familial osteonecrosis of the femoral head|femoral head, aseptic Necrosis of|primary avascular necrosis of the femoral head|familial avascular necrosis of the femoral head|ANFH|ANFH1|osteonecrosis of femoral head|aseptic Necrosis of femoral head|aseptic Necrosis of head of femur|avascular NECROSIS of femoral head, primary, 1|avascular Necrosis of femoral head, primary, 1 OMIMPS:608805|SCTID:715657008|Orphanet:86820|UMLS:CN206226|ICD10:M87.8|NCIT:C35480|GARD:0010914|MESH:D005271 https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head owl:Class MONDO:0005531 biolink:NamedThing morphine dependence Strong dependence, both physiological and emotional, upon morphine. tmpte7i6ely_mondo_relaxed.owl EFO:0005612|MESH:D009021|DOID:2560|SCTID:231479000 owl:Class MONDO:0056819 biolink:NamedThing nasal cavity and paranasal sinus carcinoma A carcinoma arising from the nasal cavity or paranasal sinuses. tmpte7i6ely_mondo_relaxed.owl nasal cavity and paranasal sinus carcinoma|paranasal sinus and nasal cavity cancer|sinonasal carcinoma|nasal cavity and paranasal sinus cancer UMLS:C1710095|GARD:0007650|NCIT:C54293 Editor note: TODO add uberon term owl:Class MONDO:0005965 biolink:NamedThing spinal stenosis Narrowing of the spinal canal. tmpte7i6ely_mondo_relaxed.owl lumbar spinal stenosis|cervical spinal stenosis|spinal stenosis of lumbar region EFO:0007490|ICD9:724.09|SCTID:76107001|MESH:D013130|ICD10:M48.0|ICD9:723.0|ICD10:M48.00|ICD10:M48.02|ICD10:M48.06|HP:0003416|DOID:6725|ICD9:724.00 owl:Class MONDO:0100011 biolink:NamedThing tendinosis The chronic degeneration of a tendon without inflammation. tmpte7i6ely_mondo_relaxed.owl 2018-07-17 15:58:43+00:00 SCTID:724152009 owl:Class HGNC:4458 biolink:NamedThing GPI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023021 biolink:NamedThing dwarfism lethal type advanced bone age tmpte7i6ely_mondo_relaxed.owl GARD:0001986 https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age owl:Class MONDO:0032752 biolink:NamedThing developmental and epileptic encephalopathy, 75 tmpte7i6ely_mondo_relaxed.owl EIEE75|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75|DEE75|epileptic encephalopathy, early infantile, 75 OMIM:618437 owl:Class MONDO:0010446 biolink:NamedThing X-linked cone dysfunction syndrome with myopia X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. tmpte7i6ely_mondo_relaxed.owl bed|Bornholm eye disease|BORNHOLM eye disease|myopia, high, with nonprogressive cone dysfunction ICD10:H53.8|OMIM:300843|MESH:C564092|UMLS:C3159311|Orphanet:90001|SCTID:718718009 owl:Class HGNC:29508 biolink:NamedThing KIDINS220 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054591 biolink:NamedThing Stankiewicz-Isidor syndrome A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. tmpte7i6ely_mondo_relaxed.owl Stankiewicz-Isidor syndrome|STISS OMIM:617516|UMLS:C4479599 owl:Class MONDO:0002175 biolink:NamedThing degeneration of macula and posterior pole tmpte7i6ely_mondo_relaxed.owl degeneration of macula and posterior pole of retina|degeneration of macula or posterior pole DOID:2007|ICD10:H35.3|ICD9:362.5|UMLS:C0339436|SCTID:267611002 owl:Class UBERON:0010131 biolink:NamedThing conducting tissue of heart tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005121 biolink:NamedThing Enterococcus faecalis infection A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens. tmpte7i6ely_mondo_relaxed.owl Enterococcus faecalis infectious disease|Enterococcus faecalis caused disease or disorder|Enterococcus faecalis disease or disorder EFO:0000780 owl:Class MONDO:0006931 biolink:NamedThing pulmonary coin lesion A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura. tmpte7i6ely_mondo_relaxed.owl coin lesion lung|coin lesion of lung (context-dependent category)|coin lesion of lung (finding)|coin lesion of lung MESH:D003074|EFO:1001133|ICD10:R91.1|DOID:5364|UMLS:C0009250 owl:Class MONDO:0018535 biolink:NamedThing biliary cystadenocarcinoma A cystadenocarcinoma that involves the biliary tree. tmpte7i6ely_mondo_relaxed.owl intrahepatic bile duct cystadenocarcinoma ICD10:C22.1|Orphanet:424982|UMLS:C2064409 owl:Class GO:0015696 biolink:NamedThing ammonium transport The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals. tmpte7i6ely_mondo_relaxed.owl ammonia transport owl:Class HGNC:10968 biolink:NamedThing SLC22A4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7739 biolink:NamedThing NEFL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009936 biolink:NamedThing familial primary pulmonary hypoplasia Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. tmpte7i6ely_mondo_relaxed.owl pulmonary hypoplasia, primary|primary pulmonary hypoplasia|lung agenesis ICD10:Q33.6|SCTID:277656005|ICD9:748.5|UMLS:CN226916|OMIM:265430|Orphanet:2257 owl:Class MONDO:0000976 biolink:NamedThing paratesticular lipoma A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range. tmpte7i6ely_mondo_relaxed.owl paratesticular lipoma UMLS:C1335348|NCIT:C6384|DOID:10207 owl:Class MONDO:0020493 biolink:NamedThing Haddad syndrome Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. tmpte7i6ely_mondo_relaxed.owl Haddad syndrome|ondine-Hirschsprung syndrome|ondine-Hirschsprung disease|congenital central alveolar hypoventilation-Hirschsprung disease syndrome ICD10:G47.3|Orphanet:99803|SCTID:719972004|OMIM:209880 owl:Class MONDO:0004613 biolink:NamedThing acute intestinal ischemia Ischemia of the intestine that is rapid in onset. tmpte7i6ely_mondo_relaxed.owl acute intestinal vascular insufficiency|acute intestinal ischemia DOID:8590|UMLS:C0001363|NCIT:C34356|ICD9:557.0|SCTID:91489000 owl:Class MONDO:0013317 biolink:NamedThing torsade-de-pointes syndrome with short coupling interval Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. tmpte7i6ely_mondo_relaxed.owl torsade DE pointes, short-coupled variant SCTID:718104007|ICD10:I49.8|OMIM:613600|Orphanet:51084|UMLS:C3150851 owl:Class MONDO:0001163 biolink:NamedThing paranoid personality disorder A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted. tmpte7i6ely_mondo_relaxed.owl SCTID:13601005|DOID:10938|MESH:D010260|ICD9:301.0|NCIT:C92630|ICD10:F60.0 owl:Class MONDO:0011785 biolink:NamedThing hereditary spastic paraplegia 19 Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spastic paraplegia 19|SPG19|spastic paraplegia 19|hereditary spastic paraplegia type 19|spastic paraplegia 19, autosomal dominant|autosomal dominant spastic paraplegia type 19 Orphanet:100999|ICD10:G11.4|GARD:0009588|SCTID:763375003|MESH:C536856|OMIM:607152|DOID:0110772|UMLS:C1846685 owl:Class MONDO:0004054 biolink:NamedThing acute canaliculitis tmpte7i6ely_mondo_relaxed.owl acute lacrimal canaliculitis|acute canaliculitis, lacrimal UMLS:C0339130|DOID:6969|ICD9:375.31|ICD10:H04.33|SCTID:84399007 owl:Class MONDO:0004055 biolink:NamedThing acute inflammation of lacrimal passage tmpte7i6ely_mondo_relaxed.owl UMLS:C0339129|ICD10:H04.3|DOID:6970|SCTID:302900006|ICD9:375.3 owl:Class HGNC:26267 biolink:NamedThing POMK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009777 biolink:NamedThing Oliver syndrome Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. tmpte7i6ely_mondo_relaxed.owl postaxial polydactyly-intellectual disability syndrome|Oliver syndrome|postaxial polydactyly and mental retardation|postaxial polydactyly and intellectual disability ICD10:Q87.2|OMIM:258200|SCTID:721017000|Orphanet:2920|MESH:C564931|GARD:0004069|UMLS:C1850320 https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome owl:Class HGNC:2699 biolink:NamedThing DDX3Y tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003628 biolink:NamedThing pulmonary valve disorder A disease involving the pulmonary valve. tmpte7i6ely_mondo_relaxed.owl disease or disorder of pulmonary valve|pulmonary valve disorder|disorder of pulmonary valve|pulmonary valve disease or disorder|pulmonary valve disease|disease of pulmonary valve DOID:5749|NCIT:C78579|SCTID:76267008|ICD9:424.3|UMLS:C0034087 owl:Class MONDO:0008593 biolink:NamedThing trichomegaly tmpte7i6ely_mondo_relaxed.owl eyelashes, long|trichomegaly|TCMGLY OMIM:190330|Orphanet:411788 owl:Class GO:0019184 biolink:NamedThing nonribosomal peptide biosynthetic process The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione. tmpte7i6ely_mondo_relaxed.owl nonribosomal peptide synthetase|non-ribosomal peptide synthesis|nonribosomal peptide formation|non-ribosomal peptide formation|non-ribosomal peptide biosynthesis|nonribosomal peptide synthesis|nonribosomal peptide biosynthesis|non-ribosomal peptide biosynthetic process|nonribosomal peptide anabolism owl:Class CHEBI:55323 biolink:NamedThing antidiarrhoeal drug Any drug found useful in the symptomatic treatment of diarrhoea. tmpte7i6ely_mondo_relaxed.owl antiperistaltic agent|antidiarrheals|antiperistaltic|antidiarrheal agent|antidiarrheal drugs|antidiarrhoeal|antiperistaltic agents|antidiarrhoeal agent|antidiarrheal|antidiarrhoeal drugs|antidiarrhoeal agents|antidiarrheal drug|antiperistaltic drugs|antidiarrhoeals|antidiarrheal agents|antiperistaltic drug|antiperistaltics owl:Class CHEBI:55324 biolink:NamedThing gastrointestinal drug A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion. tmpte7i6ely_mondo_relaxed.owl gastrointestinal agent|gastrointestinal agents|gastrointestinal drugs owl:Class NCBITaxon:7387 biolink:NamedThing Oestridae tmpte7i6ely_mondo_relaxed.owl botflies|bot flies|warble flies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43755 biolink:NamedThing Oestroidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032668 biolink:NamedThing Diamond-Blackfan anemia 18 tmpte7i6ely_mondo_relaxed.owl DIAMOND-BLACKFAN ANEMIA 18|DBA18 OMIM:618310 owl:Class MONDO:0012088 biolink:NamedThing primary ciliary dyskinesia 5 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 5 without situs inversus|CILD5|ciliary dyskinesia, primary, 5, without situs inversus|primary ciliary dyskinesia caused by mutation in HYDIN|HYDIN primary ciliary dyskinesia|primary ciliary dyskinesia type 5|ciliary dyskinesia, primary, 5|ciliary dyskinesia, primary, type 5 OMIM:608647|UMLS:C1837615|ICD10:Q34.8|MESH:C563886|DOID:0110617 owl:Class PATO:0000957 biolink:NamedThing opacity An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023528 biolink:NamedThing KSHV inflammatory cytokine syndrome A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. tmpte7i6ely_mondo_relaxed.owl KSHV inflammatory cytokine syndrome|KICS|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome GARD:0010827|UMLS:C4086533|NCIT:C125711 https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome owl:Class MONDO:0044688 biolink:NamedThing isolated optic neuritis tmpte7i6ely_mondo_relaxed.owl ion Orphanet:499096 owl:Class MONDO:0010891 biolink:NamedThing lethal hemolytic anemia-genital anomalies syndrome Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin. tmpte7i6ely_mondo_relaxed.owl hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities|hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities|water-West syndrome Orphanet:1046|UMLS:C1838120|ICD10:D58.8|OMIM:600461|GARD:0002642|MESH:C563935 owl:Class MONDO:0009120 biolink:NamedThing diverticulosis of bowel, hernia, and retinal detachment A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. tmpte7i6ely_mondo_relaxed.owl diverticulosis of bowel, hernia, and retinal detachment|Marphanoid syndrome type De Silva|marfanoid syndrome, De Silva type Orphanet:2464|OMIM:223330|MESH:C565619|GARD:0003401|UMLS:C1857227 The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease. owl:Class HGNC:14341 biolink:NamedThing EDARADD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032575 biolink:NamedThing diarrhea 9 tmpte7i6ely_mondo_relaxed.owl DIAR9|DIARRHEA 9 OMIM:618168 owl:Class MONDO:0008831 biolink:NamedThing asphyxiating thoracic dystrophy 1 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. tmpte7i6ely_mondo_relaxed.owl thoracic-pelvic-phalangeal dystrophy|ATD1|SRTD1|short-rib thoracic dysplasia 1 with or without polydactyly|asphyxiating thoracic dystrophy 1|Jeune syndrome|asphyxiating thoracic dystrophy type 1 UMLS:C0265275|Orphanet:474|DOID:0110085|ICD10:Q77.2|UMLS:CN119532|OMIM:208500 owl:Class MONDO:0019864 biolink:NamedThing tetrasomy 21 Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. tmpte7i6ely_mondo_relaxed.owl tetrasomy type 21|Isochromosome 21 GARD:0012480|SCTID:764690001|ICD10:Q99.8|Orphanet:96055 https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21 owl:Class MONDO:0012267 biolink:NamedThing holoprosencephaly 8 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. tmpte7i6ely_mondo_relaxed.owl HPE8|holoprosencephaly type 8|holoprosencephaly 8 OMIM:609408|Orphanet:2162|UMLS:C1836254|DOID:0110879|MESH:C563723 owl:Class MONDO:0002855 biolink:NamedThing ectomesenchymoma An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component. tmpte7i6ely_mondo_relaxed.owl sarcoma with ganglionic or neuroectodermal differentiation|ectomesenchymoma|malignant ectomesenchymoma|rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)|rhabdomyosarcoma with ganglionic differentiation NCIT:C4716|ICDO:8921/3|DOID:4055|GARD:0012279|UMLS:C0431111 owl:Class MONDO:0012114 biolink:NamedThing Ehlers-Danlos syndrome, Beasley-Cohen type tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome with mental retardation, deafness, and cataract|Ehlers-Danlos syndrome, Beasley-Cohen type|Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract OMIM:608763|MESH:C536199|UMLS:C1837462 owl:Class HGNC:23198 biolink:NamedThing CYP4V2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001078 biolink:NamedThing tropical sprue A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. tmpte7i6ely_mondo_relaxed.owl idiopathic tropical malabsorption syndrome|post-infective tropical malabsorption|sprue - tropical|tropical enteropathy|tropical steatorrhea MESH:D013182|GARD:0007824|DOID:10607|UMLS:C0038054|ICD10:K90.1|ICD9:579.1|SCTID:47384003|NCIT:C45428 https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue owl:Class MONDO:0003365 biolink:NamedThing esophagus leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl esophageal leiomyosarcoma|leiomyosarcoma of esophagus|leiomyosarcoma of the esophagus|esophagus leiomyosarcoma UMLS:C1333454|DOID:5276|NCIT:C5334 owl:Class MONDO:0008197 biolink:NamedThing parietal foramina 1 Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene. tmpte7i6ely_mondo_relaxed.owl parietal foramina caused by mutation in MSX2|MSX2 parietal foramina|catlin Marks|PFM|foramina parietalia permagna|parietal foramina|parietal foramina 1|cranium bifidum occultum|PFM1|cranium bifidum, hereditary|parietal foramina, symmetric Orphanet:60015|OMIM:168500 owl:Class MONDO:0045057 biolink:NamedThing delirium A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) tmpte7i6ely_mondo_relaxed.owl organic brain syndrome|OBS syndrome ICD9:293.0|UMLS:C0011206|SCTID:2776000|MESH:D003693|EFO:0009267 owl:Class MONDO:0010211 biolink:NamedThing xeroderma pigmentosum group C An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum 3|XP, Group C|xeroderma pigmentosum group C|xeroderma pigmentosum, type 3|XPCC|xeroderma pigmentosum, complementation group C|xeroderma pigmentosum group type C|XP-C|XP group C|XPC|XP3|xeroderma pigmentosum, complementation group type C|xeroderma pigmentosum III OMIM:278720|MESH:C567886|GARD:0005626|ICD10:Q82.1|Orphanet:276255|Orphanet:910|UMLS:C2752147|NCIT:C114770|SCTID:25784009|DOID:0110844 owl:Class MONDO:0020465 biolink:NamedThing congenital eyelid retraction Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. tmpte7i6ely_mondo_relaxed.owl SCTID:715769008|ICD10:Q10.3|Orphanet:99176 Editor note: check ORDO classification owl:Class MONDO:0016209 biolink:NamedThing benign familial nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. tmpte7i6ely_mondo_relaxed.owl benign nocturnal alternating hemiplegia of childhood|benign familial nocturnal alternating hemiplegia in childhood UMLS:CN226880|Orphanet:209973 owl:Class MONDO:0011864 biolink:NamedThing immunodeficiency, common variable, 1 tmpte7i6ely_mondo_relaxed.owl immunodeficiency, common variable, 1|antibody deficiency due to Icos defect|immunodeficiency, common variable, type 1|immunodeficiency, common variable|CVID1 UMLS:C3149378|Orphanet:1572|OMIM:607594|UMLS:C0009447 owl:Class UBERON:0011875 biolink:NamedThing ligament of sternoclavicular joint tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0031011 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and variable seizures tmpte7i6ely_mondo_relaxed.owl NEDDFAS OMIM:619264 owl:Class MONDO:0019228 biolink:NamedThing inborn disorder of histidine metabolism An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process. tmpte7i6ely_mondo_relaxed.owl inborn error of histidine metabolism|inborn histidine metabolic process disorder|histidine metabolism disease|disturbances of histidine metabolism|disorder of histidine metabolism|rare inborn error of histidine metabolic process|inborn error of histidine metabolic process ICD9:270.5|ICD10:E70.40|ICD10:E70.4|DOID:9265|ICD10:E70.8|Orphanet:79181 owl:Class PATO:0000150 biolink:NamedThing texture A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030919 biolink:NamedThing intellectual disability, autosomal dominant 53 tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal dominant 53|autosomal dominant intellectual disability 53|MRD53|mental retardation, autosomal dominant 53|autosomal dominant mental retardation 53 Orphanet:178469|EFO:0009165|DOID:0080228|OMIM:617798 owl:Class MONDO:0012484 biolink:NamedThing prosopagnosia, hereditary An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl prosopagnosia, hereditary|hereditary prosopagnosia (disease)|hereditary prosopagnosia|face blindness|prosopagnosia, developmental|prosopagnosia, congenital|developmental prosopagnosia|congenital prosopagnosia UMLS:C2931455|OMIM:610382|GARD:0010035 owl:Class NCBITaxon:35325 biolink:NamedThing dsRNA viruses tmpte7i6ely_mondo_relaxed.owl dsRNA nonenveloped viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054845 biolink:NamedThing developmental and epileptic encephalopathy, 66 tmpte7i6ely_mondo_relaxed.owl EIEE66|DEE66|epileptic encephalopathy, early infantile, 66 UMLS:CN252658|OMIM:618067|DOID:0080446 owl:Class MONDO:0018127 biolink:NamedThing 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). tmpte7i6ely_mondo_relaxed.owl monosomy 16q24.1|Del(16)(q24.1) ICD10:Q93.5|Orphanet:352629|UMLS:CN204505 owl:Class HP:0010541 biolink:NamedThing Cutis gyrata of scalp The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. tmpte7i6ely_mondo_relaxed.owl Thickening of the scalp|Scalp folds|Cutis verticis gyrata|Scalp furrows|Thickened folds on top of scalp|Furrows in thickened skin on top of scalp SNOMEDCT_US:51603000|UMLS:C4072877|UMLS:C4280378|UMLS:C0263417 peter 2009-09-23T10:15:33Z human_phenotype owl:Class MONDO:0015743 biolink:NamedThing idiopathic bilateral vestibulopathy Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. tmpte7i6ely_mondo_relaxed.owl ICD10:H81.8|SCTID:737580004|Orphanet:171684|UMLS:C4545229 owl:Class MONDO:0010652 biolink:NamedThing X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. tmpte7i6ely_mondo_relaxed.owl mental retardation and psoriasis|X-linked intellectual disability associated with psoriasis|X-linked intellectual disability - seizures - psoriasis|mental retardation X-linked, Tranebjaerg type seizures and psoriasis|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|Tranebjaerg-Svejgaard syndrome|X-linked mental retardation associated with psoriasis|Tranebjaerg Svejgaard syndrome|intellectual disability and psoriasis OMIM:309480|SCTID:719810000|Orphanet:3052|ICD10:Q87.8|MESH:C536978|GARD:0005238 owl:Class HGNC:10295 biolink:NamedThing RPGR tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5810 biolink:NamedThing Toxoplasma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006350 biolink:NamedThing papillary transitional cell carcinoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. tmpte7i6ely_mondo_relaxed.owl papillary transitional cell carcinoma (morphologic abnormality)|papillary transitional carcinoma UMLS:C0334274|DOID:4012|EFO:1000450|NCIT:C4122|ICDO:8130/3 owl:Class HP:0001913 biolink:NamedThing Granulocytopenia An abnormally reduced number of granulocytes in the blood. tmpte7i6ely_mondo_relaxed.owl MSH:D000380|SNOMEDCT_US:417672002|UMLS:C0001824|SNOMEDCT_US:17182001 human_phenotype owl:Class MONDO:0005984 biolink:NamedThing tinea pedis Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. tmpte7i6ely_mondo_relaxed.owl athlete's foot|ringworm of foot|dermatophytosis of foot|dermatophytosis of pes|pes dermatophytosis DOID:12403|EFO:0007512|SCTID:6020002|ICD10:B35.3|ICD9:110.4|MESH:D014008|UMLS:C0040259 owl:Class MONDO:0001065 biolink:NamedThing supine hypotensive syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. tmpte7i6ely_mondo_relaxed.owl postpartum maternal hypotension syndrome|maternal hypotension syndrome|antepartum maternal hypotension syndrome ICD9:669.20|SCTID:88887003|DOID:10556|HP:0008071 owl:Class UBERON:0012504 biolink:NamedThing adventitia of esophagus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018250 biolink:NamedThing diffuse palmoplantar keratoderma with painful fissures tmpte7i6ely_mondo_relaxed.owl UMLS:CN204824|OMIM:148700|Orphanet:369999|ICD10:Q82.8 owl:Class GO:0048639 biolink:NamedThing positive regulation of developmental growth Any process that activates, maintains or increases the rate of developmental growth. tmpte7i6ely_mondo_relaxed.owl upregulation of developmental growth|activation of developmental growth|up regulation of developmental growth|stimulation of developmental growth|up-regulation of developmental growth owl:Class MONDO:0023543 biolink:NamedThing Katsantoni-Papadakou-Lagoyanni syndrome tmpte7i6ely_mondo_relaxed.owl Trichodermal syndrome and intellectual disability|Trichodermal syndrome and mental retardation|Katsantoni Papadakou Lagoyanni syndrome UMLS:C2931394|MESH:C537012|GARD:0003081 https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome owl:Class GO:0030335 biolink:NamedThing positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration. tmpte7i6ely_mondo_relaxed.owl up-regulation of cell migration|upregulation of cell migration|up regulation of cell migration|activation of cell migration|stimulation of cell migration owl:Class GO:0030334 biolink:NamedThing regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014842 biolink:NamedThing intellectual disability, autosomal dominant 41 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant type 41|autosomal dominant non-syndromic intellectual disability 41|intellectual disability, autosomal dominant type 41|autosomal dominant mental retardation 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 41|autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|MRD41|mental retardation, autosomal dominant 41|intellectual disability, autosomal dominant 41 DOID:0070071|OMIM:616944|UMLS:C4310784 owl:Class MONDO:0032882 biolink:NamedThing Heyn-Sproul-Jackson syndrome tmpte7i6ely_mondo_relaxed.owl Microcephaly, Short Stature, and Impaired Intellectual Development|HESJAS|HEYN-SPROUL-JACKSON SYNDROME OMIM:618724 owl:Class MONDO:0013096 biolink:NamedThing glioma susceptibility 7 tmpte7i6ely_mondo_relaxed.owl glioma susceptibility 7|GLM7 OMIM:613032|Orphanet:182067 owl:Class MONDO:0001383 biolink:NamedThing degenerative myopia Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. tmpte7i6ely_mondo_relaxed.owl progressive high myopia|progressive high (degenerative) myopia|degenerative progressive high myopia|pathological myopia MESH:D047728|ICD9:360.21|ICD10:H44.2|UMLS:C0154778|DOID:11829|SCTID:32022003|EFO:0004207 owl:Class MONDO:0030070 biolink:NamedThing heterotaxy, visceral, 9, autosomal, with male infertility tmpte7i6ely_mondo_relaxed.owl heterotaxy, visceral, 9, autosomal, with male infertility|HTX9|HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY OMIM:618948 owl:Class MONDO:0024522 biolink:NamedThing amyloidosis, primary localized cutaneous, 1 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. tmpte7i6ely_mondo_relaxed.owl amyloidosis, familial cutaneous lichen|amyloidosis, primary localized cutaneous, 1|amyloidosis, primary cutaneous, 1|amyloidosis, primary localized cutaneous, type 1|primary cutaneous amyloidosis caused by mutation in OSMR|lichen amyloidosis, familial|PLCA1|amyloidosis 9|OSMR primary cutaneous amyloidosis|PCA UMLS:C0268398|Orphanet:353220|OMIM:105250 owl:Class NCBITaxon:2732551 biolink:NamedThing Stellavirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015408 biolink:NamedThing diffuse lymphatic malformation tmpte7i6ely_mondo_relaxed.owl Gla|diffuse lymphangioma|disseminated lymphangioma|disseminated lymphatic malformation|diffuse lymphangiomatosis|generalized lymphatic anomaly|disseminated lymphangiomatosis ICD10:I89.8|UMLS:C0343090|SCTID:703298001|Orphanet:141209 owl:Class MONDO:0100114 biolink:NamedThing dry age related macular degeneration Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy. tmpte7i6ely_mondo_relaxed.owl dry ARMD|dry AMD MEDDRA:10075567 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0009156 biolink:NamedThing ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleoside monophosphate synthesis|ribonucleoside monophosphate anabolism|ribonucleoside monophosphate formation|ribonucleoside monophosphate biosynthesis owl:Class GO:0009161 biolink:NamedThing ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl ribonucleoside monophosphate metabolism owl:Class MONDO:0011770 biolink:NamedThing aortic aneurysm, familial thoracic 2 tmpte7i6ely_mondo_relaxed.owl AAT2|FAA2|aortic aneurysm, familial thoracic 2 MESH:C564627|OMIM:607087|UMLS:C1846837|Orphanet:91387 owl:Class MONDO:0029147 biolink:NamedThing spermatogenic failure 33 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 33|SPGF33 OMIM:618152 owl:Class MONDO:0009305 biolink:NamedThing granulocytopenia with immunoglobulin abnormality tmpte7i6ely_mondo_relaxed.owl granulocytopenia with immunoglobulin abnormality UMLS:C1856263|MESH:C565535|OMIM:233600 owl:Class CL:0008030 biolink:NamedThing excitatory neuron tmpte7i6ely_mondo_relaxed.owl dos 2017-07-12 11:11:06+00:00 owl:Class GO:0019842 biolink:NamedThing vitamin binding Binding to a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004271 biolink:NamedThing pregnancy adenoma A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. tmpte7i6ely_mondo_relaxed.owl Lactating adenoma (morphologic abnormality)|Lactating adenoma DOID:7539|ICDO:8204/0|NCIT:C9473|UMLS:C1266023 owl:Class MONDO:0030072 biolink:NamedThing developmental and epileptic encephalopathy, 88 tmpte7i6ely_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88|DEE88|epileptic encephalopathy, early infantile, 88|EIEE88 OMIM:618959 owl:Class MONDO:0021902 biolink:NamedThing aortopulmonary window A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. tmpte7i6ely_mondo_relaxed.owl AP window|aortic-pulmonary window|APSD|aortopulmonary septal defect|aortopulmonary window|APW|aorto-pulmonary window NCIT:C101050|GARD:0000745|SCTID:17024001|MESH:D001028|HP:0011604 Editor note: NCIT treats as disease but consider obsoleting in favor og HP https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window owl:Class MONDO:0054696 biolink:NamedThing immunodeficiency 53 tmpte7i6ely_mondo_relaxed.owl IMD53|immunodeficiency 53 UMLS:C4539811|OMIM:617585 owl:Class MONDO:0007620 biolink:NamedThing fish eye disease Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. tmpte7i6ely_mondo_relaxed.owl fed|partial LCAT deficiency|LCATA deficiency|fish eye disease|alpha-lecithin cholesterol acyltransferase deficiency|fish-eye disease|alpha-lecithin:cholesterol acyltransferase deficiency|alpha-LCAT deficiency|dyslipoproteinemic corneal dystrophy SCTID:238092004|ICD10:E78.6|Orphanet:650|UMLS:C0342895|OMIM:136120|GARD:0006450|Orphanet:79292 https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease owl:Class GO:0046580 biolink:NamedThing negative regulation of Ras protein signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. tmpte7i6ely_mondo_relaxed.owl downregulation of Ras protein signal transduction|inhibition of Ras protein signal transduction|down-regulation of Ras protein signal transduction|down regulation of Ras protein signal transduction owl:Class MONDO:0001716 biolink:NamedThing corneal argyrosis tmpte7i6ely_mondo_relaxed.owl argentous corneal deposits|argyrosis of cornea SCTID:21328003|ICD9:371.16|ICD10:H18.02|DOID:13447|UMLS:C0155108 owl:Class MONDO:0013813 biolink:NamedThing dystonia 21 Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. tmpte7i6ely_mondo_relaxed.owl dystonia type 21|dystonia 21|primary dystonia, DYT21 type|DYT21 DOID:0090046|UMLS:C3281236|Orphanet:306734|ICD10:G24.1|OMIM:614588 owl:Class MONDO:0032679 biolink:NamedThing combined oxidative phosphorylation deficiency 37 tmpte7i6ely_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37|COXPD37 DOID:0111499|OMIM:618329 owl:Class MONDO:0002787 biolink:NamedThing adamantinous craniopharyngioma A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl adamantinous craniopharyngioma (morphologic abnormality)|adamantinous Rathke's pouch neoplasm|craniopharyngioma, adamantinomatous|adamantinomatous craniopharyngioma|adamantinous neoplasm of Rathke's pouch|adamantinous tumor of Rathke's pouch|adamantinous Rathke's pouch tumor MESH:D003397|DOID:3846|NCIT:C4726|UMLS:C0431129|EFO:1000069|ICDO:9351/1 owl:Class MONDO:0007475 biolink:NamedThing duodenal ulcer, hyperpepsinogenemic 1 tmpte7i6ely_mondo_relaxed.owl duodenal ulcer, hyperpepsinogenemic I|duodenal Ulcer, hyperpepsinogenemic type 1 MESH:C565086|OMIM:126850|UMLS:C1852008 owl:Class MONDO:0017071 biolink:NamedThing thoracolumbosacral spina bifida cystica tmpte7i6ely_mondo_relaxed.owl Orphanet:268752 owl:Class NCBITaxon:4070 biolink:NamedThing Solanaceae tmpte7i6ely_mondo_relaxed.owl nightshade family GC_ID:1 NCBITaxon:40319 ncbi_taxonomy owl:Class NCBITaxon:4069 biolink:NamedThing Solanales tmpte7i6ely_mondo_relaxed.owl Solananae GC_ID:1 NCBITaxon:41936 ncbi_taxonomy owl:Class MONDO:0007505 biolink:NamedThing earring holes, natural tmpte7i6ely_mondo_relaxed.owl earlobe sinuses|earring holes, natural OMIM:129000 owl:Class MONDO:0002968 biolink:NamedThing lymphocele A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery. tmpte7i6ely_mondo_relaxed.owl lymph cyst NCIT:C78442|ICD9:457.8|UMLS:C0024248|DOID:4347|MESH:D008210|SCTID:234110002 owl:Class MONDO:0016690 biolink:NamedThing pleomorphic xanthoastrocytoma A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults. tmpte7i6ely_mondo_relaxed.owl PXA|pleomorphic Xantho-astrocytoma Orphanet:251607|NCIT:C4323|ICD10:C79.1|DOID:4852|UMLS:C0334586|ICD10:C71.9|GARD:0010631|ICDO:9424/3|ONCOTREE:PXA https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma owl:Class MONDO:0017733 biolink:NamedThing alpha-mannosidosis, adult form tmpte7i6ely_mondo_relaxed.owl lysosomal alpha-D-mannosidase deficiency, adult form|Alpha-mannosidosis adult-onset form ICD10:E77.1|GTR:AN0103811|Orphanet:309288|UMLS:CN036949|GTR:AN0103810 owl:Class GO:0002581 biolink:NamedThing negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpte7i6ely_mondo_relaxed.owl down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II owl:Class MONDO:0022739 biolink:NamedThing Christian demyer franken syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001315 https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome owl:Class NCBITaxon:5799 biolink:NamedThing Eimeriidae tmpte7i6ely_mondo_relaxed.owl Eimeriids GC_ID:1 ncbi_taxonomy owl:Class MONDO:0060507 biolink:NamedThing retinal dystrophy with or without macular staphyloma tmpte7i6ely_mondo_relaxed.owl retinal dystrophy with or without macular staphyloma|RDMS OMIM:617547|UMLS:C4479651 owl:Class HGNC:7518 biolink:NamedThing MUC7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002570 biolink:NamedThing high pressure neurological syndrome A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. tmpte7i6ely_mondo_relaxed.owl MESH:D006610|UMLS:C0019537|DOID:3230 owl:Class HP:0100598 biolink:NamedThing Pulmonary edema Fluid accumulation in the lungs. tmpte7i6ely_mondo_relaxed.owl Lung edema|Excess fluid in lungs|Lung oedema|Wet lung|Pulmonary oedema SNOMEDCT_US:19242006|UMLS:C0034063|MSH:D011654 doelkens 2010-12-27T05:10:09Z human_phenotype owl:Class GO:0016101 biolink:NamedThing diterpenoid metabolic process The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. tmpte7i6ely_mondo_relaxed.owl diterpene metabolic process|diterpene metabolism|diterpenoid metabolism owl:Class MONDO:0100274 biolink:NamedThing alkylglycerone-phosphate synthase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene. tmpte7i6ely_mondo_relaxed.owl alkylglycerone-phosphate synthase deficiency|AGPS deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0035078 biolink:NamedThing parotid gland interlobular duct tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23038 biolink:NamedThing LMBRD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002813 biolink:NamedThing lipomatous cancer A malignant mesenchymal neoplasm arising from adipocytes. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the adipose tissue|adipose tissue cancer|malignant lipomatous tumor|cancer of adipose tissue|malignant tumor of adipose tissue|malignant lipomatous neoplasm|malignant neoplasm of adipose tissue|malignant adipose tissue neoplasm|malignant adipose tissue tumor|malignant tumor of the adipose tissue SCTID:254828009|DOID:3939|ICD9:171.9|UMLS:C0346117|NCIT:C4501 owl:Class MONDO:0005324 biolink:NamedThing seasonal allergic rhinitis Allergic rhinitis caused by outdoor allergens. tmpte7i6ely_mondo_relaxed.owl hay fever|seasonal allergic rhinitis MESH:D006255|SCTID:367498001|NCIT:C92188|EFO:0003956 owl:Class CL:1001225 biolink:NamedThing kidney collecting duct cell tmpte7i6ely_mondo_relaxed.owl Wikipedia:Kidney_collecting_duct_cell|KUPO:0001012 cell owl:Class MONDO:0026045 biolink:NamedThing prurigo nodularis Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities. tmpte7i6ely_mondo_relaxed.owl GARD:0007480 owl:Class MONDO:0009632 biolink:NamedThing microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies tmpte7i6ely_mondo_relaxed.owl microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies UMLS:C1968637|OMIM:251700|MESH:C566884 owl:Class MONDO:0020400 biolink:NamedThing congenital supravalvular mitral ring Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:Q23.2|Orphanet:99059 owl:Class UBERON:0001788 biolink:NamedThing outer limiting layer of retina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011726 biolink:NamedThing peripheral arterial occlusive disease 1 tmpte7i6ely_mondo_relaxed.owl peripheral arterial occlusive disease type 1|Paod1|peripheral arterial occlusive disease 1 UMLS:C1847493|OMIM:606787|MESH:C564658 owl:Class MONDO:0005946 biolink:NamedThing rhinosporidiosis Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi. tmpte7i6ely_mondo_relaxed.owl Rhinosporidioses|Rhinosporidium seeberi caused disease or disorder|Rhinosporidium seeberi infectious disease|Rhinosporidium seeberi disease or disorder|infection by Rhinosporidium seeberi DOID:2409|ICD9:117.0|ICD10:B48.1|EFO:0007471|UMLS:C0035469|MESH:D012227|SCTID:18140003 owl:Class HGNC:3819 biolink:NamedThing FOXO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015171 biolink:NamedThing congenital enterocyte heparan sulfate deficiency Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life. tmpte7i6ely_mondo_relaxed.owl ICD10:P78.3|Orphanet:103910|SCTID:725591002 owl:Class MONDO:0011101 biolink:NamedThing peroxisome biogenesis disorder 1B tmpte7i6ely_mondo_relaxed.owl infantile phytanic acid storage disease|Refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|peroxisome biogenesis disorder (NALD/Ird)|adrenoleukodystrophy, autosomal neonatal|PBD1B|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder type 1B OMIM:601539|UMLS:CN168921|UMLS:C0282527|Orphanet:772|Orphanet:44 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100259 biolink:NamedThing peroxisome biogenesis disorder due to PEX1 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. tmpte7i6ely_mondo_relaxed.owl PEX1 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX1 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0007010 biolink:NamedThing cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpte7i6ely_mondo_relaxed.owl cytoskeleton organisation|cytoskeleton organization and biogenesis|cytoskeletal organization and biogenesis|cytoskeletal regulator activity owl:Class MONDO:0015784 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 tmpte7i6ely_mondo_relaxed.owl UMLS:CN200366|ICD10:Q87.1|Orphanet:177904 owl:Class MONDO:0004212 biolink:NamedThing vulvar keratoacanthoma-like carcinoma A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. tmpte7i6ely_mondo_relaxed.owl vulvar squamous cell carcinoma, keratoacanthoma type DOID:7408|UMLS:C1520086|NCIT:C40288 owl:Class GO:0007088 biolink:NamedThing regulation of mitotic nuclear division Any process that modulates the frequency, rate or extent of mitosis. tmpte7i6ely_mondo_relaxed.owl regulation of mitosis owl:Class MONDO:0033482 biolink:NamedThing spinocerebellar ataxia 47 tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 47|SCA47 DOID:0111743|UMLS:CN244564|OMIM:617931 owl:Class HGNC:12517 biolink:NamedThing UCP1 tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:8000009 biolink:NamedThing single layer subset ontology module A subset ontology that is largely comprised of a single layer or strata in an ontology class hierarchy. The purpose is typically for rolling up for visualization. The classes in the layer need not be disjoint. tmpte7i6ely_mondo_relaxed.owl ribbon subset single layer ontology module owl:Class NCBITaxon:186820 biolink:NamedThing Listeriaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007423 biolink:NamedThing deafness, mid-tone neural tmpte7i6ely_mondo_relaxed.owl deafness, mid-tone neural MESH:C565122|UMLS:C1852283|OMIM:124700 owl:Class MONDO:0008367 biolink:NamedThing red cell phospholipid defect with hemolysis tmpte7i6ely_mondo_relaxed.owl leaky Red cell syndrome|HPCHA|high Red cell phosphatidylcholine hemolytic Anemia|phosphatidylcholine Red cell Membrane disorder|red cell phospholipid defect with hemolysis GARD:0010013|OMIM:179700|MESH:C535298|UMLS:C1867339 https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis owl:Class MONDO:0033115 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 25 tmpte7i6ely_mondo_relaxed.owl SCAR25|autosomal recessive spinocerebellar ataxia 25|spinocerebellar ataxia, autosomal recessive 25 DOID:0080259|UMLS:CN349871|OMIM:617584 owl:Class UBERON:0035483 biolink:NamedThing left suprarenal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021373 biolink:NamedThing neoplasm of parietal lobe A neoplasm (disease) that involves the parietal lobe. tmpte7i6ely_mondo_relaxed.owl neoplasm of the parietal lobe|tumor of the parietal lobe|tumor of parietal lobe|parietal lobe neoplasm|parietal lobe tumor|parietal lobe neoplasm (disease)|neoplasm of parietal lobe NCIT:C5573|UMLS:C1263888|SCTID:126956001 owl:Class CL:2000084 biolink:NamedThing conjunctiva goblet cell Any goblet cell that is part of a conjunctiva. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T19:28:38Z cell owl:Class MONDO:0019614 biolink:NamedThing pituitary deficiency due to Rathke's pouch cysts tmpte7i6ely_mondo_relaxed.owl pituitary deficiency due to Rathke's cleft cysts Orphanet:91350|ICD10:E23.0 owl:Class MONDO:0044333 biolink:NamedThing alcohol-induced Wernicke-Korsakoff's syndrome A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues. tmpte7i6ely_mondo_relaxed.owl alcohol-induced amnestic syndrome|alcoholic Korsakoff's psychosis|alcohol-induced Wernicke-Korsakoff's syndrome NCIT:C34366 Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this. owl:Class MONDO:0030010 biolink:NamedThing hypogonadotropic hypogonadism 25 with anosmia tmpte7i6ely_mondo_relaxed.owl HH25|HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA|hypogonadotropic hypogonadism 25 with anosmia OMIM:618841 owl:Class NCBITaxon:58024 biolink:NamedThing Spermatophyta tmpte7i6ely_mondo_relaxed.owl seed plants GC_ID:1 ncbi_taxonomy owl:Class ENVO:04000004 biolink:NamedThing concentration of carbon dioxide in air The concentration of carbon dioxide when measured in air. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023567 biolink:NamedThing Kozlowski Brown Hardwick syndrome tmpte7i6ely_mondo_relaxed.owl unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus MESH:C537506|UMLS:C2931511|GARD:0003136 https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome owl:Class MONDO:0033645 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 11 tmpte7i6ely_mondo_relaxed.owl MC4DN11 OMIM:619054 owl:Class HGNC:29669 biolink:NamedThing IFT43 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006530 biolink:NamedThing cholesteatoma A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures. tmpte7i6ely_mondo_relaxed.owl cholesteatoma|congenital cholesteatoma (type)|secondary acquired cholesteatoma (type)|primary acquired cholesteatoma (type)|cholesteatoma (disease) cholesteatoma (disease) SCTID:363668000|GARD:0010422|ICD10:H71.9|ICD9:385.30|NCIT:C2944|ICD10:H71.90|HP:0009797|EFO:1000675|UMLS:C0008373|DOID:869|MESH:D002781 owl:Class MONDO:0003983 biolink:NamedThing synchronous bilateral breast carcinoma Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast. tmpte7i6ely_mondo_relaxed.owl NCIT:C40370|DOID:6742|UMLS:C1515107 owl:Class NCBITaxon:1980415 biolink:NamedThing Nairoviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017174 biolink:NamedThing Machado-Joseph disease type 1 Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. tmpte7i6ely_mondo_relaxed.owl SCA3, Joseph type|azorean disease, type i|spinocerebellar ataxia type 3, Joseph type ICD10:G11.8|Orphanet:276238|SCTID:91953003 owl:Class HGNC:7473 biolink:NamedThing MTRR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054551 biolink:NamedThing avascular necrosis of femoral head, primary, 2 tmpte7i6ely_mondo_relaxed.owl avascular necrosis of femoral head, primary, 2|ANFH2 OMIM:617383 owl:Class MONDO:0007017 biolink:NamedThing vitreous detachment Detachment of the vitreous humor from the retina. tmpte7i6ely_mondo_relaxed.owl detachment Of vitreous|vitreous, detachment Of ICD10:H43.81|NCIT:C50807|UMLS:C0042907|SCTID:53772007|DOID:9726|MedDRA:10047650|MESH:D020255|EFO:1001238 owl:Class MONDO:0032654 biolink:NamedThing hyper-IgE recurrent infection syndrome 3, autosomal recessive tmpte7i6ely_mondo_relaxed.owl HIES3|HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE DOID:0080595|OMIM:618282 owl:Class MONDO:0018464 biolink:NamedThing severe phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. tmpte7i6ely_mondo_relaxed.owl severe PRPP synthetase superactivity|severe PRPS1 superactivity ICD10:E79.8|OMIM:300661|Orphanet:411543|UMLS:CN237444 owl:Class HP:0011015 biolink:NamedThing Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormality of blood glucose concentration UMLS:C4023597 peter 2011-02-21T10:41:13Z human_phenotype owl:Class MONDO:0019762 biolink:NamedThing laryngotracheoesophageal cleft type 2 Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. tmpte7i6ely_mondo_relaxed.owl laryngo-tracheo-esophageal cleft type 2|LTEC2|LTEC II Orphanet:93939|UMLS:CN206697|ICD10:Q32.1 owl:Class MONDO:0009528 biolink:NamedThing chylomicron retention disease Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. tmpte7i6ely_mondo_relaxed.owl hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells|chylomicron retention disease|hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|CMRD|lipid Transport defect of intestine|Anderson disease|CRD ICD10:E78.6|SCTID:702364003|MESH:C535460|GARD:0009683|UMLS:C0795956|Orphanet:71|ICD10:E78.3|OMIM:246700|DOID:0060357 https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease owl:Class MONDO:0012109 biolink:NamedThing hypertension, essential, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl Hyt4|hypertension, essential, susceptibility to, type 4|hypertension, essential, susceptibility to, 4 OMIM:608742|UMLS:C1837479 owl:Class MONDO:0033615 biolink:NamedThing coenzyme q10 deficiency, primary, 9 tmpte7i6ely_mondo_relaxed.owl COQ10D9 OMIM:619028 owl:Class MONDO:0001903 biolink:NamedThing calcific tendinitis tmpte7i6ely_mondo_relaxed.owl ICD10:M75.3|ICD10:M65.2|SCTID:95414005|DOID:14181|ICD9:726.11|UMLS:C0521515 owl:Class MONDO:0008848 biolink:NamedThing atrioventricular dissociation Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. tmpte7i6ely_mondo_relaxed.owl A-V dissociation|atrioventricular dissociation|atrioventricular dissociation (disease) atrioventricular dissociation (disease) HP:0011709|OMIM:209600|MESH:D006327|SCTID:50799005|ICD9:426.89 owl:Class GO:0000002 biolink:NamedThing mitochondrial genome maintenance The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013934 biolink:NamedThing combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). tmpte7i6ely_mondo_relaxed.owl STK4 deficiency|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|TIIAC|Cid due to STK4 deficiency|Mst1 deficiency OMIM:614868|UMLS:C3553943|ICD10:D81.8|Orphanet:314689 owl:Class MONDO:0004182 biolink:NamedThing stage IVb bladder cancer Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. tmpte7i6ely_mondo_relaxed.owl Jewett-Marshall stage D1 bladder cancer|stage IVB urinary bladder carcinoma|Jewett-Marshall stage D2 urinary bladder carcinoma|Jewett-Marshall bladder cancer|stage IVB urinary bladder cancer|Jewett-Marshall stage D2 urinary bladder cancer|Jewett-Marshall stage D2 bladder cancer|stage IVB bladder cancer NCIT:C9368|DOID:7315|UMLS:C1336362 Editor note: consider obsoleting or moving to stage owl:Class HGNC:14234 biolink:NamedThing NSD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018826 biolink:NamedThing Lewis-Sumner syndrome A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. tmpte7i6ely_mondo_relaxed.owl multifocal acquired demyelinating sensory and motor neuropathy|MADSAM Orphanet:48162|UMLS:C1695985|GARD:0013070|MedDRA:10065580|ICD10:G61.8 https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome|https://github.com/monarch-initiative/mondo/issues/2760 owl:Class MONDO:0006702 biolink:NamedThing chronic inflammatory demyelinating polyradiculoneuropathy A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse. tmpte7i6ely_mondo_relaxed.owl chronic inflammatory demyelinating polyradiculoneuropathy|chronic inflammatory demyelinating polyneuropathy|CIDP|chronic relapsing polyneuropathy MESH:D020277|MedDRA:10057645|Orphanet:2932|DOID:5213|EFO:1000868|ICD9:357.89|ICD10:G61.81|NCIT:C84636|SCTID:444728005|SCTID:128209004|ICD9:357.81 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2760|https://github.com/monarch-initiative/mondo/issues/3697 owl:Class MONDO:0004753 biolink:NamedThing mechanical strabismus tmpte7i6ely_mondo_relaxed.owl DOID:9306|SCTID:5371001|ICD9:378.60|ICD10:H50.6|UMLS:C0152223|ICD10:H50.60|ICD9:378.6 May be ceded to HPO owl:Class MONDO:0014334 biolink:NamedThing severe combined immunodeficiency due to LCK deficiency tmpte7i6ely_mondo_relaxed.owl IMD22|SCID due to lymphocyte-specific protein tyrosine kinase deficiency|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|immunodeficiency 22|SCID due to LCK deficiency|immunodeficiency type 22 OMIM:615758|UMLS:C4014233|Orphanet:280142|ICD10:D81.1 owl:Class MONDO:0014204 biolink:NamedThing basal ganglia calcification, idiopathic, 5 tmpte7i6ely_mondo_relaxed.owl basal ganglia calcification, idiopathic, type 5|basal ganglia calcification, idiopathic, 5|IBGC5 OMIM:615483|Orphanet:1980|UMLS:C3809645 owl:Class MONDO:0008528 biolink:NamedThing tear protein, anodal tmpte7i6ely_mondo_relaxed.owl tear protein, anodal OMIM:186890|UMLS:C1861283 owl:Class HGNC:2198 biolink:NamedThing COL1A2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002108 biolink:NamedThing CD38-negative IgG memory B cell A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CHEBI:33308 biolink:NamedThing carboxylic ester An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl. tmpte7i6ely_mondo_relaxed.owl carboxylic esters|carboxylic acid esters|Carboxylic ester|a carboxylic ester owl:Class MONDO:0010874 biolink:NamedThing enteropathy, familial, with villous edema and immunoglobulin G2 deficiency tmpte7i6ely_mondo_relaxed.owl enteropathy, familial, with villous edema and immunoglobulin G2 deficiency OMIM:600351|MESH:C563949|UMLS:C1838238 owl:Class MONDO:0010917 biolink:NamedThing chondrocalcinosis 1 tmpte7i6ely_mondo_relaxed.owl CCAL1|chondrocalcinosis 1|chondrocalcinosis with early-onset osteoarthritis OMIM:600668|GARD:0006048|MESH:C535938|Orphanet:1416 owl:Class MONDO:0012492 biolink:NamedThing restless legs syndrome, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl restless legs syndrome, susceptibility to, 3|RLS3 GARD:0010270|OMIM:610438 owl:Class UBERON:0001248 biolink:NamedThing hilum of spleen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021494 biolink:NamedThing benign neoplasm of parotid gland A benign neoplasm that involves the parotid gland. tmpte7i6ely_mondo_relaxed.owl benign parotid neoplasm|benign tumor of parotid gland|benign parotid gland tumor|benign parotid gland neoplasm|benign neoplasm of parotid|benign neoplasm of the parotid gland|parotid gland benign neoplasm|benign tumor of the parotid|benign neoplasm of the parotid|benign parotid tumor|benign tumor of parotid|benign tumor of the parotid gland SCTID:92279000|UMLS:C0496857|NCIT:C4770|ICD10:D11.0 owl:Class MONDO:0043277 biolink:NamedThing mosaic trisomy 6 Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997). tmpte7i6ely_mondo_relaxed.owl trisomy 6 mosaicism|trisomy 6 SCTID:205647005|NCIT:C36475|GARD:0007815 Editor notes: TODO DPs for partial/complete/mosaic owl:Class UBERON:0004431 biolink:NamedThing proximal epiphysis of fifth metatarsal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006203 biolink:NamedThing extrahepatic bile duct squamous cell carcinoma A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells. tmpte7i6ely_mondo_relaxed.owl bile duct squamous cell carcinoma|squamous cell carcinoma of bile duct|squamous cell bile duct carcinoma|squamous cell carcinoma of the bile duct|extrahepatic bile duct squamous cell carcinoma NCIT:C5777|UMLS:C0861861|EFO:1000248 owl:Class UBERON:0013755 biolink:NamedThing arterial blood tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010164 biolink:NamedThing phocomelia, Schinzel type Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. tmpte7i6ely_mondo_relaxed.owl absence of ulna and fibula with severe limb deficiency|limb/pelvis-hypoplasia/aplasia syndrome|AARRS|ulna and fibula absence of with severe limb deficiency|severe limb deficit|Al-Awadi-Raas-Rothschild syndrome|ulna and fibula, absence of, with severe limb deficiency|profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|congenital absence of ulna and fibula|Al Awadi-Raas-Rothschild syndrome|aplasia/hypoplasia of limbs and pelvis|Al-Awadi/Raas-Rothschild syndrome|Al Awadi Teebi Farag syndrome|Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|Teebi Naguib Al Awadi syndrome|Schinzel phocomelia syndrome Orphanet:2879|GARD:0009212|SCTID:715522000|GARD:0005124|ICD10:Q87.2|MESH:C535612|OMIM:276820 owl:Class CHEBI:76414 biolink:NamedThing propellant A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. tmpte7i6ely_mondo_relaxed.owl propellants owl:Class MONDO:0003594 biolink:NamedThing mixed liposarcoma A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma. tmpte7i6ely_mondo_relaxed.owl mixed liposarcoma (morphologic abnormality)|mixed liposarcoma DOID:5703|ICDO:8855/3|UMLS:C0334472|NCIT:C4253 owl:Class MONDO:0015845 biolink:NamedThing uterine cervical aplasia and agenesis tmpte7i6ely_mondo_relaxed.owl Orphanet:180145|ICD10:Q51.5 owl:Class MONDO:0016411 biolink:NamedThing hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. tmpte7i6ely_mondo_relaxed.owl Orphanet:226307|ICD10:E03.1|UMLS:CN201345 owl:Class MONDO:0009302 biolink:NamedThing XY type gonadal dysgenesis-associated anomalies syndrome Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. tmpte7i6ely_mondo_relaxed.owl gonadal dysgenesis XY type associated anomalies|gonadal dysgenesis, XY type, with associated anomalies|gonadal dysgenesis, 10Y type, with associated anomalies MESH:C565536|UMLS:C1856272|ICD10:Q99.1|OMIM:233430|Orphanet:1770|GARD:0002541 https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies owl:Class MONDO:0008860 biolink:NamedThing beta-aminoisobutyric acid, urinary excretion of tmpte7i6ely_mondo_relaxed.owl hyper-Beta-aminoisobutyric aciduria|Beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of|Baib urinary excretion|BETA-aminoisobutyric aciduria|BAIBA OMIM:210100|MESH:C565904|UMLS:C1859518 owl:Class UBERON:0015860 biolink:NamedThing visceral abdominal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006614 biolink:NamedThing subcorneal pustular dermatosis A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities. tmpte7i6ely_mondo_relaxed.owl subcorneal pustular dermatitis|Sneddon-Wilkinson disease or syndrome|Sneddon-Wilkinson disease|subcorneal pustular dermatosis|pustulosis subcornealis ICD10:L13.1|EFO:1000771|ICD9:694.1|DOID:8508|Orphanet:48377|MedDRA:10042342|UMLS:C0600336|SCTID:25147002 owl:Class MONDO:0006871 biolink:NamedThing non-gestational choriocarcinoma A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis. tmpte7i6ely_mondo_relaxed.owl DOID:4320|EFO:1001064|UMLS:C1135873|MESH:D031954 owl:Class GO:0030990 biolink:NamedThing intraciliary transport particle A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. tmpte7i6ely_mondo_relaxed.owl intraflagellar transport complex|intraflagellar transport particle|IFT complex owl:Class MONDO:0000924 biolink:NamedThing compensatory emphysema tmpte7i6ely_mondo_relaxed.owl ICD10:J98.3|UMLS:C0155918|SCTID:33325001|ICD9:518.2|DOID:10031 owl:Class HGNC:14378 biolink:NamedThing NOP10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009378 biolink:NamedThing hyper-beta-alaninemia Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. tmpte7i6ely_mondo_relaxed.owl hyper-beta-alaninemia|hyperbetaalaninemia|hyperalaninemia Orphanet:309147|SCTID:2359002|UMLS:C0268630|MESH:C562684|GARD:0010267|ICD10:E79.8|OMIM:237400|ICD9:270.8 https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia owl:Class MONDO:0030895 biolink:NamedThing nephrotic syndrome, type 22 tmpte7i6ely_mondo_relaxed.owl NPHS22|nephrotic syndrome, type 22 OMIM:619155 owl:Class MONDO:0016773 biolink:NamedThing atrophic lichen planus Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center. tmpte7i6ely_mondo_relaxed.owl atrophic LP SCTID:25858008|Orphanet:254449|MedDRA:10056959|NCIT:C34777|ICD10:L43.8|GARD:0012675|UMLS:C0023647 https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus owl:Class MONDO:0000393 biolink:NamedThing partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. tmpte7i6ely_mondo_relaxed.owl UMLS:C3661483|DOID:0050666 owl:Class MONDO:0007721 biolink:NamedThing hiatus hernia Herniation of the upper part of the stomach through the diaphragm. tmpte7i6ely_mondo_relaxed.owl hiatal hernia|hiatus hernia|hernia, hiatus|diaphragmatic - hiatus -hernia|hiatus hernia (disease) hiatus hernia (disease) HP:0002036|SCTID:84089009|MESH:D006551|DOID:12642|OMIM:142400|NCIT:C98945|ICD10:K44 owl:Class GO:0022829 biolink:NamedThing wide pore channel activity Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. tmpte7i6ely_mondo_relaxed.owl gap junction activity|non-gated, wide pore channel activity owl:Class MONDO:0031006 biolink:NamedThing neurodegeneration with ataxia and late-onset optic atrophy tmpte7i6ely_mondo_relaxed.owl NDAXOA OMIM:619259 owl:Class MONDO:0015326 biolink:NamedThing night blindness-skeletal anomalies-dysmorphism syndrome This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). tmpte7i6ely_mondo_relaxed.owl Hunter-Thompson-Reed syndrome|Hunter Thompson Reed syndrome GARD:0003994|Orphanet:1390|ICD10:Q87.8|UMLS:CN199356 https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome owl:Class MONDO:0005464 biolink:NamedThing rhegmatogenous retinal detachment Retinal detachment secondary to retinal tear or break. tmpte7i6ely_mondo_relaxed.owl EFO:0005240|UMLS:C0271055|NCIT:C118755|SCTID:19620000 owl:Class ENVO:01001164 biolink:NamedThing geodiversity A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16406 biolink:NamedThing EFHC1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:37816 biolink:NamedThing Rickettsia honei tmpte7i6ely_mondo_relaxed.owl Thai tick typhus rickettsia|Flinders Island spotted fever rickettsia GC_ID:11|PMID:8735110|PMID:9828442 NCBITaxon:45259 ncbi_taxonomy owl:Class GO:0004177 biolink:NamedThing aminopeptidase activity Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015002 biolink:NamedThing developmental and epileptic encephalopathy, 49 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene. tmpte7i6ely_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in DENND5A|epileptic encephalopathy, early infantile, 49|EIEE49|DENND5A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 49; EIEE49|epileptic encephalopathy, early infantile, type 49|DEE49 DOID:0080441|UMLS:C4310635|OMIM:617281 owl:Class HGNC:7470 biolink:NamedThing MT-RNR1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0102175 biolink:NamedThing 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017581 biolink:NamedThing familial infantile gigantism tmpte7i6ely_mondo_relaxed.owl infantile gigantism due to pituitary hyperplasia|X-LAG (X-linked acrogigantism)|hereditary pituitary hyperplasia|hereditary infantile gigantism ICD10:E22.0|OMIM:300942|Orphanet:300373|UMLS:CN203384 owl:Class MONDO:0010373 biolink:NamedThing premature ovarian failure 2B Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. tmpte7i6ely_mondo_relaxed.owl primary ovarian failure caused by mutation in POF1B|POF1B primary ovarian failure|POF2B|premature ovarian failure type 2B|premature ovarian failure 2B UMLS:C1845105|MESH:C564476|OMIM:300604 owl:Class MONDO:0011344 biolink:NamedThing parotitis, juvenile recurrent tmpte7i6ely_mondo_relaxed.owl parotitis, juvenile recurrent UMLS:C1863691|MESH:C566359|OMIM:603588 owl:Class ECTO:4000036 biolink:NamedThing exposure to decreased air pressure A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air. tmpte7i6ely_mondo_relaxed.owl exposure to decreased amount in pressure of air owl:Class MONDO:0011688 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B5 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. tmpte7i6ely_mondo_relaxed.owl MDDGB5|muscular dystrophy, congenital, 1C|MDC1C|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|FKRP-related congenital muscular dystrophy|congenital muscular dystrophy 1C|congenital muscular dystrophy-FKRP related|muscular dystrophy, congenital, FKRP-related|muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM:606612|ICD10:G71.2|MESH:C564691|Orphanet:370959|Orphanet:52428|DOID:0110635|Orphanet:370980|Orphanet:370968|UMLS:C1847759 owl:Class MONDO:0014789 biolink:NamedThing CCDC115-CDG tmpte7i6ely_mondo_relaxed.owl CDG syndrome type IIo|congenital disorder of glycosylation type 2o|CDG IIo|CDG-IIo|congenital disorder of glycosylation type IIo|carbohydrate deficient glycoprotein syndrome type IIo|CDG2O|congenital disorder of glycosylation, type IIo OMIM:616828|Orphanet:468684|DOID:0070267 owl:Class MONDO:0032777 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 10 tmpte7i6ely_mondo_relaxed.owl Gefs+, Type 10|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10|GEFSP10 DOID:0111296|OMIM:618482 owl:Class MONDO:0005264 biolink:NamedThing transient ischemic attack A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. tmpte7i6ely_mondo_relaxed.owl transient ischemic attacks|ischemic attack, transient|transient ischemic attack|transient cerebral ischemia (disorder) [ambiguous]|TIA|attack, transient ischemic|transient cerebral ischemia|transient ischemic attack (disease)|TIA - transient ischaemic attack|transient cerebral ischaemia transient ischemic attack (disease) ICD10:G45.9|SCTID:266257000|ICD9:435.8|ICD9:435|DOID:224|ICD9:435.9|EFO:0003764|HP:0002326|NCIT:C50781|MESH:D002546 owl:Class MONDO:0017547 biolink:NamedThing congenital vertical talus, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295203|ICD10:Q66.8 owl:Class HGNC:7594 biolink:NamedThing MYO15A tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11052 biolink:NamedThing Dengue virus group tmpte7i6ely_mondo_relaxed.owl Dengue viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012681 biolink:NamedThing febrile seizures, familial, 7 tmpte7i6ely_mondo_relaxed.owl FEB7|febrile seizures, familial, 7|febrile convulsions, familial, 7 UMLS:C1969087|MESH:C566929|DOID:0111311|OMIM:611515 owl:Class MONDO:0017830 biolink:NamedThing severe Canavan disease Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. tmpte7i6ely_mondo_relaxed.owl neonatal Canavan disease|infantile Canavan disease ICD10:E75.2|UMLS:CN203803|Orphanet:314911 owl:Class MONDO:0009808 biolink:NamedThing osteoid osteoma A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare. tmpte7i6ely_mondo_relaxed.owl osteoid osteoma|osteoid osteoma (disease) osteoid osteoma (disease) SCTID:302859004|NCIT:C3297|ICDO:9191/0|MESH:D010017|HP:0030433|UMLS:C0029441|OMIM:259550 owl:Class GO:0016011 biolink:NamedThing dystroglycan complex A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020430 biolink:NamedThing cor triatriatum sinister Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy. tmpte7i6ely_mondo_relaxed.owl divided left atrium|cor triatriatum sinistrum SCTID:253353007|GARD:0012484|Orphanet:99099|ICD9:746.89|ICD10:Q24.2 https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister owl:Class UBERON:0004390 biolink:NamedThing epiphysis of metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:86056 biolink:NamedThing Rhinocladiella mackenziei tmpte7i6ely_mondo_relaxed.owl Ramichloridium mackenziei GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044201 biolink:NamedThing T+ B+ severe combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl T-cell positive B-cell positive SCID|T+B+ SCID Orphanet:397802|ICD10:D81.2 owl:Class MONDO:0049222 biolink:NamedThing intellectual disability, X-linked 107 tmpte7i6ely_mondo_relaxed.owl MRX107|intellectual disability, X-linked 107|mental retardation, X-linked 107 OMIM:301013 owl:Class MONDO:0001638 biolink:NamedThing protein-deficiency anemia tmpte7i6ely_mondo_relaxed.owl anemia due to protein deficiency ICD10:D53.0|DOID:13120|ICD9:281.4|UMLS:C0154290|SCTID:191156009 owl:Class MONDO:0011432 biolink:NamedThing blepharophimosis - intellectual disability syndrome, Verloes type tmpte7i6ely_mondo_relaxed.owl blepharophimosis-mental retardation syndrome, Verloes type|BMRS, Verloes type|blepharophimosis-intellectual disability syndrome, Verloes type|blepharophimosis with facial and genital anomalies and mental retardation|blepharophimosis with facial and genital anomalies and intellectual disability|blepharophimosis-intellectual disability syndrome type V|BMRS type V MESH:C565797|OMIM:604314|Orphanet:293725|UMLS:C1858538 owl:Class MONDO:0034189 biolink:NamedThing primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:562639 owl:Class MONDO:0018588 biolink:NamedThing ALECT2 amyloidosis A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. tmpte7i6ely_mondo_relaxed.owl LECT2 amyloidosis|leukocyte chemotactic factor-2 amyloidosis Orphanet:439224|ICD10:E85.8 owl:Class HGNC:7422 biolink:NamedThing MT-CO3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002883 biolink:NamedThing Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. tmpte7i6ely_mondo_relaxed.owl Rapid breathing UMLS:C0020578|MSH:D006985|SNOMEDCT_US:68978004 human_phenotype owl:Class MONDO:0000694 biolink:NamedThing seasonal affective disorder A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence. tmpte7i6ely_mondo_relaxed.owl sad|seasonal affective disorder|SADS|winter depression MESH:D016574|ICD9:296.99|DOID:0060167|SCTID:247803002 owl:Class MONDO:0013374 biolink:NamedThing supernumerary der(22)t(8;22) syndrome tmpte7i6ely_mondo_relaxed.owl supernumerary der(22)t(8;22) syndrome OMIM:613700|UMLS:C3150966 owl:Class MONDO:0300000 biolink:NamedThing SSR3-CDG A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure. tmpte7i6ely_mondo_relaxed.owl SSR3 deficiency|SSR3 congenital disorder of glycosylation http://orcid.org/0000-0001-9969-8610 http://orcid.org/0000-0003-2338-2550 owl:Class MONDO:0020408 biolink:NamedThing complete atrioventricular canal-tetralogy of fallot syndrome tmpte7i6ely_mondo_relaxed.owl CAVC-Fallot tetralogy syndrome|complete atrioventricular canal type C|CAVC type C ICD10:Q21.2|Orphanet:99068|UMLS:CN207280 owl:Class MONDO:0019825 biolink:NamedThing congenital coronary artery aneurysm Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure. tmpte7i6ely_mondo_relaxed.owl congenital coronary aneurysm SCTID:204378009|Orphanet:95491|ICD10:Q24.5 owl:Class MONDO:0015203 biolink:NamedThing coronary artery congenital malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:1081|ICD10:Q24.5|MedDRA:10061060 owl:Class MONDO:0009091 biolink:NamedThing non-acquired combined pituitary hormone deficiency with spine abnormalities Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. tmpte7i6ely_mondo_relaxed.owl non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|Pituitary hormone deficiency, combined with rigid cervical spine|CPHD3|non-acquired combined pituitary hormone deficiency with spine abnormalities|Deafness, sensorineural with pituitary dwarfism|pituitary hormone deficiency, combined, type 3|Winkelmann-Bethge-Pfeiffer syndrome|pituitary hormone deficiency, combined, with rigid cervical spine|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|deafness, sensorineural, with pituitary dwarfism|pituitary hormone deficiency, combined, 3 Orphanet:231720|MESH:C536710|GARD:0010603|OMIM:221750|UMLS:C3489787 owl:Class HGNC:5992 biolink:NamedThing IL1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009957 biolink:NamedThing Reese retinal dysplasia tmpte7i6ely_mondo_relaxed.owl Reese retinal dysplasia MESH:C564854|GARD:0010566|OMIM:266400|UMLS:C1849450 https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia owl:Class MONDO:0008110 biolink:NamedThing ocular dominance tmpte7i6ely_mondo_relaxed.owl ocular dominance 2022-04-01 OMIM:164190 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0016530 biolink:NamedThing laryngocele A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck. tmpte7i6ely_mondo_relaxed.owl NCIT:C97062|UMLS:C0265761|GARD:0003191|MedDRA:10023885|ICD10:Q31.3|SCTID:51523009|Orphanet:2372|MESH:D059608|ICD9:748.3 https://rarediseases.info.nih.gov/diseases/3191/laryngocele owl:Class MONDO:0012546 biolink:NamedThing nephrotic syndrome, type 3 Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. tmpte7i6ely_mondo_relaxed.owl NPHS3|PLCE1 nephrotic syndrome|nephrotic syndrome, type 3|nephrotic syndrome, early-onset, type 3|nephrotic syndrome caused by mutation in PLCE1 UMLS:C1853124|OMIM:610725|DOID:0080382 owl:Class MONDO:0001242 biolink:NamedThing disseminated intravascular coagulation in newborn A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. tmpte7i6ely_mondo_relaxed.owl DIC in newborn|disseminated intravascular coagulation in newborn|neonatal disseminated intravascular coagulation ICD10:P60|NCIT:C111856|UMLS:C0158992|SCTID:34417008|DOID:11246|ICD9:776.2 owl:Class MONDO:0001243 biolink:NamedThing disseminated intravascular coagulation A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. tmpte7i6ely_mondo_relaxed.owl diffuse or disseminated intravascular coagulation|DIC, disseminated intravascular coagulation|disseminated intravascular coagulation|coagulation (DIC), disseminated intravascular|consumptive coagulopathy|defibrination syndrome|DIC|intravascular coagulation (DIC), disseminated|disseminated intravascular coagulation (DIC) ICD9:286.6|UMLS:C0012739|NCIT:C2992|UMLS:C4321305|MESH:D004211|SCTID:67406007|ICD10:D65|DOID:11247 owl:Class UBERON:0002668 biolink:NamedThing oculomotor nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014207 biolink:NamedThing age related macular degeneration 14 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. tmpte7i6ely_mondo_relaxed.owl macular degeneration, age-related, 14|ARMD14|age related macular degeneration type 14|macular Degeneration, age-related, type 14|macular Degeneration, age-related, reduced risk of OMIM:615489|DOID:0110026 owl:Class MONDO:0000248 biolink:NamedThing dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. tmpte7i6ely_mondo_relaxed.owl DSS SCTID:409671005|DOID:0050125|UMLS:C0376300|MESH:D019595 owl:Class UBERON:0003658 biolink:NamedThing hip muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000256 biolink:NamedThing Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. tmpte7i6ely_mondo_relaxed.owl Large calvaria|Increased size of head|Large skull|Big head|Big skull|Large cranium|Big cranium|Increased size of cranium|Large head circumference|Megacephaly|Increased size of skull|Large head|Big calvaria|Macrocrania UMLS:C4083076|Fyler:4335|UMLS:C4280664|UMLS:C4255213|UMLS:C4280663 Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. HP:0200135|HP:0005491|HP:0005496 human_phenotype owl:Class HGNC:4921 biolink:NamedThing HIVEP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017724 biolink:NamedThing Tay-Sachs disease, b variant, infantile form tmpte7i6ely_mondo_relaxed.owl GM2 gangliosidosis, B variant, infantile form|hexosaminidase A deficiency, infantile form ICD10:E75.0|Orphanet:309178|UMLS:CN203620 owl:Class MONDO:0015557 biolink:NamedThing Smouldering systemic mastocytosis Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions. tmpte7i6ely_mondo_relaxed.owl Orphanet:158775|ICD10:C96.2 owl:Class MONDO:0030505 biolink:NamedThing cholestasis, progressive familial intrahepatic, 8 tmpte7i6ely_mondo_relaxed.owl PFIC8 OMIM:619662 owl:Class MONDO:0008636 biolink:NamedThing double uterus-hemivagina-renal agenesis syndrome Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. tmpte7i6ely_mondo_relaxed.owl Double uterus and obstructed hemivagina syndrome|obstructed hemivagina and ipsilateral renal anomaly|uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis|Wunderlich syndrome|Herlyn-Werner syndrome|OHVIRA syndrome SCTID:722431007|MESH:C566010|Orphanet:3411|OMIM:192050 owl:Class MONDO:0008124 biolink:NamedThing omphalocele, autosomal tmpte7i6ely_mondo_relaxed.owl paraomphalocele|omphalocele, autosomal|type - epigastric - defect in the cephalic fold|chromosome 1P31 Duplication syndrome|type - hypogastric - defect in the caudal fold GARD:0004218|Orphanet:660|UMLS:C3277235|UMLS:C0795690|OMIM:164750 owl:Class HGNC:1122 biolink:NamedThing BTD tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35722 biolink:NamedThing sulfated glycosaminoglycan tmpte7i6ely_mondo_relaxed.owl sulfated glycosaminoglycans|glycosaminoglycan sulfates|glycosaminoglycan sulfate owl:Class MONDO:0006521 biolink:NamedThing acneiform dermatitis Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). tmpte7i6ely_mondo_relaxed.owl Rash acneiform NCIT:C35277|EFO:1000662|DOID:4399|UMLS:C0234894 owl:Class MONDO:0030977 biolink:NamedThing neuropathy, hereditary motor, with myopathic features tmpte7i6ely_mondo_relaxed.owl HMNMYO OMIM:619216 owl:Class CHEBI:83822 biolink:NamedThing non-proteinogenic L-alpha-amino acid Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpte7i6ely_mondo_relaxed.owl non-proteinogenic L-alpha-amino acids owl:Class CHEBI:15705 biolink:NamedThing L-alpha-amino acid Any alpha-amino acid having L-configuration at the alpha-carbon. tmpte7i6ely_mondo_relaxed.owl L-2-Amino acid|L-alpha-amino acid|L-alpha-amino acids|L-Amino acid owl:Class FOODON:03420113 biolink:NamedThing mammalian milk or milk component A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005202 biolink:NamedThing atopic IgE-mediated allergic disorder A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms. tmpte7i6ely_mondo_relaxed.owl atopy|Atopic allergy|atopic state NCIT:C41366|EFO:0002686|SCTID:115665000|ICD9:995.3|UMLS:C1706410 Editor notes: this is a finding in NCIT owl:Class UBERON:0003416 biolink:NamedThing mesenchyme of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017146 biolink:NamedThing sickle cell disease and related diseases tmpte7i6ely_mondo_relaxed.owl UMLS:CN202572|ICD10:D57.1|ICD10:D57.3|ICD10:D57.2|Orphanet:275752|ICD10:D57.8|ICD10:D57.0 owl:Class UBERON:0005294 biolink:NamedThing gonadal ridge tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000459 biolink:NamedThing mesenchymal glioblastoma A molecular subtype of glioblastoma characterized by the presence of NF1 mutations. tmpte7i6ely_mondo_relaxed.owl mesenchymal glioblastoma|glioblastoma mesenchymal subtype UMLS:C3829122|NCIT:C111695|DOID:0050805 owl:Class CL:0002222 biolink:NamedThing vertebrate lens cell A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye. tmpte7i6ely_mondo_relaxed.owl FMA:70950 tmeehan 2010-09-07T10:38:03Z cell owl:Class MONDO:0004009 biolink:NamedThing kidney pelvis sarcomatoid transitional cell carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. tmpte7i6ely_mondo_relaxed.owl kidney pelvis sarcomatoid transitional cell carcinoma|infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|sarcomatoid transitional cell carcinoma of kidney pelvis|sarcomatoid transitional cell carcinoma of the kidney pelvis|renal pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of renal pelvis|sarcomatoid transitional cell carcinoma of the renal pelvis UMLS:C1335752|DOID:6844|NCIT:C6186 owl:Class SO:0000571 biolink:NamedThing miRNA_encoding A region that can be transcribed into a microRNA (miRNA). tmpte7i6ely_mondo_relaxed.owl miRNA encoding owl:Class HGNC:30791 biolink:NamedThing UBIAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008979 biolink:NamedThing chorea, benign familial Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. tmpte7i6ely_mondo_relaxed.owl chorea, benign familial|chorea familial benign|benign hereditary chorea GARD:0001305|OMIM:118700|UMLS:C1859098|Orphanet:1429|OMIM:215450|MESH:C565851 https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea owl:Class MONDO:0012636 biolink:NamedThing restless legs syndrome, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl RLS6|restless legs syndrome, susceptibility to, 6|periodic limb movements in sleep GARD:0010273|OMIM:611185 owl:Class CL:0000807 biolink:NamedThing DN3 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. tmpte7i6ely_mondo_relaxed.owl DN3 alpha-beta immature T-cell|preT.DN3.Th|double negative 3|TN3 cell|DN3 immature T cell|DN3 alpha-beta immature T lymphocyte|DN3 alpha-beta immature T-lymphocyte|TN3 thymocyte|early cortical thymocyte|DN3 cell cell owl:Class MONDO:0004720 biolink:NamedThing variola minor infection A orthopoxvirus that causes a milder clinical syndrome than smallpox. tmpte7i6ely_mondo_relaxed.owl cottonpox|alastrim|milkpox|whitepox|Variola minor NCIT:C34365|DOID:9153|UMLS:C0001906|ICD9:050.1|SCTID:72294005|MESH:D012899 owl:Class GO:0072524 biolink:NamedThing pyridine-containing compound metabolic process The chemical reactions and pathways involving a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. tmpte7i6ely_mondo_relaxed.owl pyridine-containing compound metabolism|pyridine and derivative metabolic process owl:Class HP:0011772 biolink:NamedThing Abnormal thyroid morphology A structural abnormality of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl Abnormal shape of thyroid gland|Abnormality of thyroid morphology UMLS:C4023195 peter 2012-04-22T05:54:57Z human_phenotype owl:Class HP:0000820 biolink:NamedThing Abnormality of the thyroid gland An abnormality of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl Abnormality of the thyroid gland|Thyroid disease|Thyroid abnormality SNOMEDCT_US:14304000|UMLS:C0040128|MSH:D013959 human_phenotype owl:Class MONDO:0012403 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl SLEB7|systemic lupus erythematosus, susceptibility to, 7 OMIM:610065 owl:Class HGNC:7323 biolink:NamedThing SEPTIN9 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000526 biolink:NamedThing Aniridia Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. tmpte7i6ely_mondo_relaxed.owl Absent iris MSH:D015783|UMLS:C0003076|SNOMEDCT_US:69278003 HP:0011498 human_phenotype owl:Class HP:0008053 biolink:NamedThing Aplasia/Hypoplasia of the iris Absence or underdevelopment of the iris. tmpte7i6ely_mondo_relaxed.owl Absent/small iris|Absent/underdeveloped iris UMLS:C4024748 peter 2008-04-02T01:50:00Z human_phenotype owl:Class MONDO:0033673 biolink:NamedThing spermatogenic failure 46 tmpte7i6ely_mondo_relaxed.owl SPGF46 OMIM:619095 owl:Class GO:0045654 biolink:NamedThing positive regulation of megakaryocyte differentiation Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. tmpte7i6ely_mondo_relaxed.owl up-regulation of megakaryocyte differentiation|upregulation of megakaryocyte differentiation|stimulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation owl:Class MONDO:0007824 biolink:NamedThing incisors, lower central, absence of tmpte7i6ely_mondo_relaxed.owl incisors, lower central, absence of OMIM:147330 owl:Class MONDO:0019983 biolink:NamedThing multiloculated renal cyst tmpte7i6ely_mondo_relaxed.owl multilocular cyst of the kidney|multilocular renal cyst SCTID:86463003|Orphanet:97366 owl:Class HGNC:2845 biolink:NamedThing DGCR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011626 biolink:NamedThing acromegaloid features, overgrowth, cleft palate, and hernia tmpte7i6ely_mondo_relaxed.owl acromegaloid features, overgrowth, cleft palate and hernia|Aoch|acromegaloid features, overgrowth, cleft palate, and hernia GARD:0010194|MESH:C535656|OMIM:606049|UMLS:C1853757 https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia owl:Class MONDO:0019532 biolink:NamedThing autoimmune hemolytic anemia, warm type Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C). tmpte7i6ely_mondo_relaxed.owl warm antibody hemolytic anemia|wAHA|warm antibody autoimmune hemolytic anemia|wAIHA|warm AIHA|warm antibody AIHA|warm-reacting-antibody hemolytic anemia NCIT:C162611|GARD:0007876|Orphanet:90033|SCTID:3978000|MedDRA:10047822|ICD10:D59.1|UMLS:C0272118 owl:Class MONDO:0004092 biolink:NamedThing thymic basaloid carcinoma A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. tmpte7i6ely_mondo_relaxed.owl thymus basaloid squamous cell carcinoma|basaloid carcinoma of the Thymus|basaloid carcinoma of Thymus|Thymus basaloid carcinoma|thymic basaloid carcinoma NCIT:C6456|UMLS:C1332464|DOID:7050 owl:Class MONDO:0019604 biolink:NamedThing acquired monoclonal Ig light chain-associated Fanconi syndrome A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia. tmpte7i6ely_mondo_relaxed.owl acquired Fanconi syndrome secondary to monoclonal gammopathy|acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome UMLS:C4510369|Orphanet:91136|UMLS:CN206457|SCTID:724099000|ICD10:E72.0 owl:Class NCBITaxon:188543 biolink:NamedThing Demodicidae tmpte7i6ely_mondo_relaxed.owl follicle mites GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:188547 biolink:NamedThing Cheyletoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014239 biolink:NamedThing testicular anomalies with or without congenital heart disease tmpte7i6ely_mondo_relaxed.owl testicular anomalies with or without congenital heart disease|TACHD OMIM:615542|Orphanet:251510|UMLS:C3809858 owl:Class MONDO:0017479 biolink:NamedThing amelia of upper limb, bilateral tmpte7i6ely_mondo_relaxed.owl ICD10:Q71.0|Orphanet:295055 owl:Class CHEBI:33485 biolink:NamedThing chalcogen oxoanion tmpte7i6ely_mondo_relaxed.owl chalcogen oxoanions|chalcogen oxoanion owl:Class MONDO:0016940 biolink:NamedThing partial duplication of the short arm of chromosome 3 Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl trisomy 3p|chromosome 3p duplication|Duplication 3p|partial trisomy of chromosome 3p|partial trisomy 3p|partial trisomy of the short arm of chromosome 3|3p duplication|3p trisomy|partial duplication of chromosome 3p|partial duplication of the short arm of chromosome type 3 MESH:C536811|Orphanet:262707|GARD:0005343 owl:Class MONDO:0000413 biolink:NamedThing infancy electroclinical syndrome An electroclinical syndrome with onset in infancy occurring between birth and one year of age. tmpte7i6ely_mondo_relaxed.owl DOID:0050703 owl:Class GO:0009295 biolink:NamedThing nucleoid The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007729 biolink:NamedThing developmental dysplasia of the hip 1 tmpte7i6ely_mondo_relaxed.owl DDH1|hip dysplasia, congenital|developmental dysplasia of the hip 1|hip dysplasia, developmental|acetabular dysplasia OMIM:142700 owl:Class MONDO:0000670 biolink:NamedThing cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. tmpte7i6ely_mondo_relaxed.owl DOID:0060140|UMLS:C0392704 owl:Class MONDO:0008008 biolink:NamedThing MOMO syndrome MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. tmpte7i6ely_mondo_relaxed.owl macrocephaly-obesity-mental disability-ocular abnormalities syndrome|macrosomia, obesity, macrocephaly, ocular abnormalities|macrosomia, obesity, macrocephaly, and ocular abnormalities|momo syndrome|macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus) Orphanet:2563|ICD10:Q87.3|OMIM:157980|MESH:C535812|SCTID:724137002|GARD:0000178|UMLS:C1834759 https://rarediseases.info.nih.gov/diseases/178/momo-syndrome owl:Class MONDO:0007331 biolink:NamedThing cleft chin tmpte7i6ely_mondo_relaxed.owl Chin dimple|cleft chin 2022-04-01 OMIM:119000 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0400001 HP:0400001 https://github.com/monarch-initiative/hpo-annotation-data/pull/234 owl:Class MONDO:0011195 biolink:NamedThing Usher syndrome type 1E A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl Usher syndrome, type 1E|USHER syndrome, type IE|Usher syndrome type IE|USH1E ICD10:H35.5|DOID:0110833|OMIM:602097|Orphanet:231169|GARD:0005439|Orphanet:886|UMLS:C1865865 https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e owl:Class MONDO:0020629 biolink:NamedThing microcephaly, growth restriction and increased sister chromatid exchange tmpte7i6ely_mondo_relaxed.owl MGRISCE OMIMPS:210900 owl:Class MONDO:0009204 biolink:NamedThing lethal faciocardiomelic dysplasia Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. tmpte7i6ely_mondo_relaxed.owl faciocardiomelic dysplasia lethal|faciocardiomelic dysplasia, lethal SCTID:719400000|MESH:C565578|GARD:0002229|Orphanet:1972|UMLS:C1856891|OMIM:227270|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal owl:Class MONDO:0015660 biolink:NamedThing sporadic fetal brain disruption sequence Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. tmpte7i6ely_mondo_relaxed.owl UMLS:CN237425|ICD10:Q02|Orphanet:1665|SCTID:763717004 owl:Class MONDO:0032818 biolink:NamedThing neurodevelopmental disorder with cerebellar hypoplasia and spasticity tmpte7i6ely_mondo_relaxed.owl NEDCHS|NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY OMIM:618572 owl:Class UBERON:0004509 biolink:NamedThing skeletal muscle tissue of trapezius tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001598 biolink:NamedThing benign lymphoepithelial lesion of salivary gland A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma. tmpte7i6ely_mondo_relaxed.owl benign salivary gland lymphoepithelial lesion|Godwin tumor|benign lymphoepithelial lesion of salivary gland|benign lymphoepithelial lesion of the salivary gland ICD10:K11.8|UMLS:C0266995|NCIT:C3949|SCTID:45517002|ICD9:527.8|DOID:12899 owl:Class MONDO:0007011 biolink:NamedThing uveoparotid fever A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. tmpte7i6ely_mondo_relaxed.owl uveoparotid fever|Heerfordt's syndrome SCTID:4416007|EFO:1001232|DOID:13404|UMLS:C0042171|SCTID:31541009|MESH:D014608|ICD10:D86.89 owl:Class MONDO:0017463 biolink:NamedThing congenital pseudoarthrosis of the femur tmpte7i6ely_mondo_relaxed.owl congenital pseudarthrosis of the femur ICD10:Q74.2|Orphanet:295020 owl:Class UBERON:0004230 biolink:NamedThing urinary bladder neck smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009639 biolink:NamedThing body of sphenoid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022647 biolink:NamedThing cardiomelic syndrome stratton Koehler type tmpte7i6ely_mondo_relaxed.owl GARD:0001099 https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type owl:Class MONDO:0004413 biolink:NamedThing cervical non-keratinizing squamous cell carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. tmpte7i6ely_mondo_relaxed.owl NCIT:C40188|UMLS:C1518366|DOID:7961 owl:Class GO:0046322 biolink:NamedThing negative regulation of fatty acid oxidation Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. tmpte7i6ely_mondo_relaxed.owl downregulation of fatty acid oxidation|inhibition of fatty acid oxidation|down regulation of fatty acid oxidation|down-regulation of fatty acid oxidation owl:Class GO:0046700 biolink:NamedThing heterocycle catabolic process The chemical reactions and pathways resulting in the breakdown of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpte7i6ely_mondo_relaxed.owl heterocycle breakdown|heterocycle degradation|heterocycle catabolism owl:Class MONDO:0018643 biolink:NamedThing susceptibility to localized juvenile periodontitis tmpte7i6ely_mondo_relaxed.owl ICD10:D71|Orphanet:447740 owl:Class UBERON:0019204 biolink:NamedThing skin epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013363 biolink:NamedThing chromosome 2q31.1 duplication syndrome tmpte7i6ely_mondo_relaxed.owl mesomelic dysplasia, 2Q31.1 Duplication-related|chromosome 2q31.1 duplication syndrome DOID:0060458|OMIM:613681|UMLS:C3150940|Orphanet:1836 owl:Class HGNC:2995 biolink:NamedThing DPAGT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030294 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 3 tmpte7i6ely_mondo_relaxed.owl megacystis-microcolon-intestinal hypoperistalsis syndrome 3|MMIHS3 OMIM:619362 owl:Class MONDO:0007720 biolink:NamedThing hernia, double inguinal tmpte7i6ely_mondo_relaxed.owl hernia, double inguinal OMIM:142350|UMLS:C0860251|MESH:C563164 owl:Class MONDO:0004663 biolink:NamedThing colon carcinoma in situ A in situ carcinoma that involves the colon. tmpte7i6ely_mondo_relaxed.owl colon carcinoma in situ|colon cancer stage 0|stage 0 colonic carcinoma|stage 0 colon cancer aJCC v6 and v7|stage 0 colon carcinoma|carcinoma in situ of colon|colonic carcinoma in situ|stage 0 carcinoma of colon|stage 0 colon cancer|carcinoma in situ of the colon|stage 0 carcinoma of the colon|stage 0 colon cancer aJCC v6|stage 0 colon cancer aJCC v7|colon in situ carcinoma SCTID:92568009|ICD10:D01.0|DOID:8826|NCIT:C3638|ICD9:230.3|UMLS:C0154061 owl:Class HGNC:18391 biolink:NamedThing SCGB3A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030607 biolink:NamedThing Bryant-Li-Bhoj neurodevelopmental syndrome 2 tmpte7i6ely_mondo_relaxed.owl BRYLIB2 OMIM:619721 owl:Class MONDO:0011252 biolink:NamedThing spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. tmpte7i6ely_mondo_relaxed.owl spondyloepimetaphyseal dysplasia Shohat type|SEMDSH|spondyloepimetaphyseal dysplasia, Shohat type|SEMD Shohat type|SEMD, Shohat type OMIM:602557|SCTID:719201004|UMLS:C1865185|GARD:0004980|Orphanet:93352|MESH:C566523|ICD10:Q77.7 https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type owl:Class GO:0051560 biolink:NamedThing mitochondrial calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. tmpte7i6ely_mondo_relaxed.owl regulation of mitochondrial calcium ion concentration|regulation of calcium ion concentration in mitochondria|calcium ion homeostasis in mitochondrion|regulation of calcium ion concentration in mitochondrion|mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondria owl:Class MONDO:0011166 biolink:NamedThing lymphedema-atrial septal defects-facial changes syndrome Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl lymphedema, atrial septal defect, and characteristic facies|Irons-Bianchi syndrome|lymphedema, CARDIAC septal defects, and characteristic facies|Irons Bhan syndrome|autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|Irons-Bhan syndrome|lymphedema, atrial septal defect, and characteristic facial changes MESH:C567398|OMIM:601927|Orphanet:86915|ICD10:Q87.8|GARD:0000284|SCTID:721978002|MESH:C535539 https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome owl:Class GO:0032770 biolink:NamedThing positive regulation of monooxygenase activity Any process that activates or increases the activity of a monooxygenase. tmpte7i6ely_mondo_relaxed.owl upregulation of monooxygenase activity|stimulation of monooxygenase activity|activation of monooxygenase activity|up-regulation of monooxygenase activity|up regulation of monooxygenase activity owl:Class GO:1904782 biolink:NamedThing negative regulation of NMDA glutamate receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity. tmpte7i6ely_mondo_relaxed.owl inhibition of NMDA receptor|negative regulation of NMDA receptor|down regulation of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA receptor|negative regulation of N-methyl-D-aspartate selective glutamate receptor activity|down regulation of NMDA glutamate receptor activity|down-regulation of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of NMDA glutamate receptor activity|inhibition of N-methyl-D-aspartate selective glutamate receptor activity|down regulation of NMDA receptor|down-regulation of NMDA glutamate receptor activity|downregulation of NMDA glutamate receptor activity|downregulation of N-methyl-D-aspartate selective glutamate receptor activity|down-regulation of NMDA receptor owl:Class NCBITaxon:2560526 biolink:NamedThing Human orthorubulavirus 4 tmpte7i6ely_mondo_relaxed.owl HPIV type 4|Human rubulavirus 4|HPIV4|human parainfluenza virus|Human parainfluenza virus 4|Parainfluenza virus type 4|Human parainfluenza virus type 4 GC_ID:1 NCBITaxon:1979161|NCBITaxon:11203 ncbi_taxonomy owl:Class HGNC:26144 biolink:NamedThing PALB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005496 biolink:NamedThing bile duct carcinoma A carcinoma that arises from epithelial cells of the bile duct tmpte7i6ely_mondo_relaxed.owl bile duct cancer|bile duct cancer (including cholangiocarcinoma)|carcinoma of bile duct|bile duct carcinoma UMLS:C0740277|EFO:0005540|DOID:4897|NCIT:C27814 owl:Class MONDO:0012101 biolink:NamedThing glaucoma 1, open angle, J tmpte7i6ely_mondo_relaxed.owl JOAG2|GLC1J|glaucoma, primary open angle, juvenile-onset, 2|glaucoma 1, open angle, J|JOAG1J MESH:C563874|UMLS:C1837528|OMIM:608695|Orphanet:98977 owl:Class CL:0002005 biolink:NamedThing CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative. tmpte7i6ely_mondo_relaxed.owl Markers are associated with human cell type. tmeehan 2010-01-13T03:43:10Z cell owl:Class MONDO:0018376 biolink:NamedThing secondary non-traumatic avascular necrosis tmpte7i6ely_mondo_relaxed.owl secondary non-traumatic AVN ICD10:M87.3|Orphanet:399180|ICD10:M87.1 owl:Class MONDO:0019399 biolink:NamedThing Isaac syndrome Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. tmpte7i6ely_mondo_relaxed.owl Isaac's-Merten's syndrome|Isaac-Mertens syndrome|Quantal squander syndrome|continuous muscle fiber activity syndrome|peripheral nerve hyperexcitability|neuromyotonia|Isaacs' syndrome|acquired neuromyotonia UMLS:C0751919|Orphanet:84142|ICD10:G71.1|GARD:0006793|SCTID:305719002|UMLS:CN206101 owl:Class MONDO:0030976 biolink:NamedThing oculomotor-abducens synkinesis tmpte7i6ely_mondo_relaxed.owl OCABSN OMIM:619215 owl:Class MONDO:0007057 biolink:NamedThing acroosteolysis dominant type Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. tmpte7i6ely_mondo_relaxed.owl Cheney syndrome|Arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome|serpentine fibula polycystic kidney syndrome|acrodentoosteodysplasia|Hajdu-Cheney syndrome|acroosteolysis with osteoporosis and changes in skull and mandible|serpentine fibula-polycystic kidneys syndrome|HJCYS GARD:0000508|MESH:D030981|NCIT:C35545|ICD10:M89.5|MESH:C531695|ICD9:756.59|NCIT:C84745|SCTID:27201004|OMIM:102400|Orphanet:955|SCTID:63122002|UMLS:C2930971|UMLS:C0917715|MESH:C535663|OMIM:102500|DOID:2736|MESH:C537586 https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type owl:Class MONDO:0007056 biolink:NamedThing acroosteolysis A condition that is characterized by degeneration of the distal phalanges. tmpte7i6ely_mondo_relaxed.owl acroosteolysis Orphanet:955|MESH:D030981|NCIT:C35545|OMIM:102400|SCTID:27201004 owl:Class MONDO:0009566 biolink:NamedThing marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Marfanoid intellectual disability syndrome autosomal|MARFANOID mental retardation syndrome, autosomal|MARFANOID intellectual disability syndrome, autosomal|Marfanoid mental retardation syndrome autosomal MESH:C565410|Orphanet:2463|ICD10:Q87.8|GARD:0003388|UMLS:C1855347|OMIM:248770 owl:Class MONDO:0007736 biolink:NamedThing HPA 1 Recognition polymorphism, beta-globin-related tmpte7i6ely_mondo_relaxed.owl HPA1|restriction fragment length polymorphism, sickle cell Anemia-related|HPA I RECOGNITION polymorphism, BETA-globin-RELATED|HPA I RECOGNITION polymorphism, BETA-globin-related OMIM:143020 owl:Class ENVO:00002013 biolink:NamedThing igneous rock Rock formed from molten magma. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005841 biolink:NamedThing maxillary neoplasm Cancer or tumors of the maxilla or upper jaw. tmpte7i6ely_mondo_relaxed.owl bone of upper jaw neoplasm|neoplasm of bone of upper jaw|bone of upper jaw tumor|maxillary cancer|upper jaw bone cancer|maxillary neoplasm|bone of upper jaw neoplasm (disease)|tumor of bone of upper jaw UMLS:C0024954|SCTID:126550004|MESH:D008441|EFO:0007360|DOID:4618 owl:Class MONDO:0019877 biolink:NamedThing distal trisomy 2q Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. tmpte7i6ely_mondo_relaxed.owl distal duplication 2q|telomeric duplication 2q|distal trisomy type 2q|trisomy 2qter ICD10:Q92.3|Orphanet:96094|SCTID:763272003 owl:Class MONDO:0014403 biolink:NamedThing short stature due to GHSR deficiency Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. tmpte7i6ely_mondo_relaxed.owl short stature due to growth hormone secretagogue receptor deficiency|growth hormone deficiency, isolated partial|ghrelin receptor deficiency|GHDP SCTID:766817004|ICD10:E34.3|Orphanet:314811|OMIM:615925 owl:Class MONDO:0014509 biolink:NamedThing vitelliform macular dystrophy 5 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene. tmpte7i6ely_mondo_relaxed.owl VMD5|vitelliform macular dystrophy caused by mutation in IMPG2|macular dystrophy, vitelliform, type 5|IMPG2 vitelliform macular dystrophy|macular dystrophy, vitelliform, 5 Orphanet:99000|OMIM:616152|UMLS:C4015343 owl:Class GO:0045333 biolink:NamedThing cellular respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). tmpte7i6ely_mondo_relaxed.owl oxidative metabolic process|oxidative metabolism|respiration owl:Class GO:0060454 biolink:NamedThing positive regulation of gastric acid secretion Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060453 biolink:NamedThing regulation of gastric acid secretion Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:118 biolink:NamedThing ACO2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009207 biolink:NamedThing factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor tmpte7i6ely_mondo_relaxed.owl factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor|factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor Orphanet:35909|OMIM:227310|UMLS:C1856882 owl:Class MONDO:0012805 biolink:NamedThing childhood onset GLUT1 deficiency syndrome 2 Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. tmpte7i6ely_mondo_relaxed.owl paroxysmal exercise-induced dystonia|ped|childhood onset GLUT1 deficiency syndrome type 2|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|PxMD-SLC2A1|childhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 2|GLUT1DS2|GLUT1 deficiency syndrome type 2|DYT-SLC2A1|dystonia 18|paroxysmal exertion-induced dyskinesia|DYT18|ped with or without epilepsy and/or hemolytic Anemia|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia UMLS:C1842534|ICD10:G24.8|MESH:C564288|Orphanet:98811|GARD:0010541|DOID:0090045|OMIM:612126|SCTID:724072002 owl:Class MONDO:0019735 biolink:NamedThing polymyalgia rheumatica A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. tmpte7i6ely_mondo_relaxed.owl rhizomelic pseudopolyarthritis|polymyalgia rheumatica DOID:853|UMLS:C0032533|GARD:0004704|ICD9:725|UMLS:C1527406|MedDRA:10068240|NCIT:C85018|MESH:D011111|Orphanet:93569|SCTID:65323003|ICD10:M35.3 owl:Class UBERON:0004053 biolink:NamedThing external male genitalia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016905 biolink:NamedThing partial deletion of the long arm of chromosome 6 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl partial deletion of the long arm of chromosome type 6|partial monosomy 6q|6q deletion|monosomy 6q|deletion 6q|partial deletion of chromosome 6q|chromosome 6q deletion|6q monosomy|partial monosomy of the long arm of chromosome 6|partial monosomy of chromosome 6q ICD10:Q93.5|Orphanet:262047|UMLS:C0795816|MESH:C537807|GARD:0003760 owl:Class MONDO:0000874 biolink:NamedThing T-cell childhood lymphoblastic lymphoma A T lymphoblastic lymphoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood precursor T-lymphoblastic lymphoma|T lymphoblastic lymphoma|childhood T lymphoblastic lymphoma DOID:0080148|EFO:1001948|UMLS:C1332998|NCIT:C7210 owl:Class CHEBI:35472 biolink:NamedThing anti-inflammatory drug A substance that reduces or suppresses inflammation. tmpte7i6ely_mondo_relaxed.owl antiinflammatory drugs|anti-inflammatory drugs|antiinflammatory drug|antiinflammatory agent owl:Class MONDO:0004891 biolink:NamedThing hyperopia A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl hypermetropia|Far-sightedness MESH:D006956|UMLS:C0020490|DOID:9834|ICD10:H52.0|ICD9:367.0|SCTID:38101003 owl:Class MONDO:0015252 biolink:NamedThing severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome tmpte7i6ely_mondo_relaxed.owl BD syndrome|intellectual disability - athetosis - microphthalmia|intellectual disability-athetosis-microphthalmia syndrome|severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome UMLS:CN237422|Orphanet:1236|GARD:0003482 https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia owl:Class HP:0001654 biolink:NamedThing Abnormal heart valve morphology Any structural abnormality of a cardiac valve. tmpte7i6ely_mondo_relaxed.owl Valvular heart disease|Abnormality of the heart valves|Valvular abnormality UMLS:C0241654|UMLS:C0018824|SNOMEDCT_US:368009|MSH:D006349 HP:0001703 human_phenotype owl:Class MONDO:0012895 biolink:NamedThing torsion dystonia 17 A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12. tmpte7i6ely_mondo_relaxed.owl torsion dystonia type 17|DYT17|dystonia 17, torsion, autosomal recessive|primary dystonia, DYT17 type MESH:C567319|UMLS:C2676281|OMIM:612406|ICD10:G24.1|DOID:0090042|Orphanet:370103 owl:Class MONDO:0002678 biolink:NamedThing pediatric fibrosarcoma A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpte7i6ely_mondo_relaxed.owl pediatric fibrosarcoma|fibrosarcoma|childhood fibrosarcoma DOID:3520|UMLS:C0279981|NCIT:C8088 owl:Class MONDO:0043129 biolink:NamedThing merlob grunebaum reisner syndrome tmpte7i6ely_mondo_relaxed.owl familial opposable triphalangeal thumbs associated with duplication of the big toes MESH:C537461|GARD:0003545|UMLS:C2931499 owl:Class NCBITaxon:2752537 biolink:NamedThing Talaromyces sect. Talaromyces tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017175 biolink:NamedThing Machado-Joseph disease type 2 Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, Thomas type|SCA3, Thomas type|azorean disease, type ii ICD10:G11.8|Orphanet:276241|SCTID:91954009 owl:Class MONDO:0006382 biolink:NamedThing poorly differentiated thyroid gland carcinoma An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004) tmpte7i6ely_mondo_relaxed.owl poorly differentiated carcinoma of thyroid gland|thyroid gland poorly differentiated carcinoma|insular carcinoma|poorly differentiated thyroid gland cancer|poorly differentiated carcinoma of the thyroid gland|poorly differentiated thyroid cancer|poorly differentiated thyroid carcinoma|poorly differentiated thyroid gland carcinoma ICDO:8337/3|EFO:1000489|UMLS:C1266050|ONCOTREE:THPD|NCIT:C6040 owl:Class HGNC:11854 biolink:NamedThing TSPAN7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013217 biolink:NamedThing Diamond-Blackfan anemia 10 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene. tmpte7i6ely_mondo_relaxed.owl RPS26 Diamond-Blackfan anemia|DBA10|Diamond-Blackfan Anemia type 10|Diamond-Blackfan anemia 10|Diamond-Blackfan anemia caused by mutation in RPS26 OMIM:613309|MESH:C567649|UMLS:C2750080 owl:Class MONDO:0015734 biolink:NamedThing rectal duplication Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. tmpte7i6ely_mondo_relaxed.owl Orphanet:171220|SCTID:725910009|ICD10:Q43.4 owl:Class MONDO:0019938 biolink:NamedThing anorectal malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:96346|ICD9:751.5|SCTID:33225004|MESH:C537771 owl:Class MONDO:0012766 biolink:NamedThing hereditary spastic paraplegia 37 Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. tmpte7i6ely_mondo_relaxed.owl SPG37|spastic paraplegia 37, autosomal dominant|autosomal dominant spastic paraplegia 37|autosomal dominant spastic paraplegia type 37|hereditary spastic paraplegia type 37 ICD10:G11.4|Orphanet:171612|SCTID:763369007|MESH:C567931|DOID:0110788|OMIM:611945|UMLS:C2936880 owl:Class MONDO:0010175 biolink:NamedThing van Bogaert-Hozay syndrome tmpte7i6ely_mondo_relaxed.owl A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|van Bogaert-Hozay syndrome|acro-osteolysis-facial dysplasia syndrome|Hozay's syndrome|Hozay’s syndrome|A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects OMIM:277150|UMLS:C1848598|GARD:0008415|MESH:C536526 https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome owl:Class NCBITaxon:196 biolink:NamedThing Campylobacter fetus tmpte7i6ely_mondo_relaxed.owl Vibrio fetus|Spirillum fetus GC_ID:11|PMID:1354478|PMID:11321120 ncbi_taxonomy owl:Class MONDO:0006899 biolink:NamedThing pericoronitis Inflammation of the gingiva surrounding the crown of a tooth. tmpte7i6ely_mondo_relaxed.owl UMLS:C0031055|MESH:D010497|EFO:1001098|MedDRA:10034504|DOID:3671|SCTID:22240003 owl:Class MONDO:0011565 biolink:NamedThing metabolic syndrome X tmpte7i6ely_mondo_relaxed.owl dysmetabolic syndrome X|abdominal obesity-metabolic syndrome quantitative trait locus 1|metabolic syndrome type X|abdominal obesity metabolic syndrome|metabolic syndrome 10|metabolic syndrome, protection against|abdominal obesity-metabolic syndrome 1|AOMS1 ICD10:E88.81|SCTID:237602007|EFO:0000195|DOID:14221|OMIM:605552|GARD:0009226|NCIT:C84442|UMLS:C0524620|UMLS:C2930930|ICD9:277.7|MESH:D024821 owl:Class HGNC:18233 biolink:NamedThing BANK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012810 biolink:NamedThing aneurysm, intracranial berry, 7 tmpte7i6ely_mondo_relaxed.owl ANIB7|aneurysm, intracranial BERRY, 7 MESH:C567406|UMLS:C2677337|OMIM:612161 owl:Class NCBITaxon:11250 biolink:NamedThing Human orthopneumovirus tmpte7i6ely_mondo_relaxed.owl human RSV|Human respiratory syncytial virus|HRSV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1868215 biolink:NamedThing Orthopneumovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:5017 biolink:NamedThing HMX1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003105 biolink:NamedThing negative regulation of glomerular filtration Any process that stops, prevents, or reduces the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:27230 biolink:NamedThing ESCO2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2499411 biolink:NamedThing Articulavirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497577 biolink:NamedThing Insthoviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003537 biolink:NamedThing left lung alveolar duct tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000179 biolink:NamedThing desert biome A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001702 biolink:NamedThing labia majora carcinoma A carcinoma that arises from the labia majora. tmpte7i6ely_mondo_relaxed.owl carcinoma of labia majora|carcinoma of labium majora|labia majora carcinoma|carcinoma of the labia majora|labium majora carcinoma|labia majora cancer UMLS:C1334356|DOID:13389|NCIT:C9363 owl:Class MONDO:0013208 biolink:NamedThing cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome tmpte7i6ely_mondo_relaxed.owl hypermanganesemia with dystonia 1|hypermanganesemia with dystonia polycythemia and cirrhosis|HMNDYT1|cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome|HMDPC|hypermanganesemia with dystonia, polycythemia, and cirrhosis SCTID:702377007|ICD9:277.89|MESH:C548016|UMLS:CN035550|DOID:0080536|Orphanet:309854|OMIM:613280|GARD:0010706 owl:Class ECTO:7000083 biolink:NamedThing exposure to contaminated sediment A exposure event involving the interaction of an exposure receptor to chemically enriched sediment. tmpte7i6ely_mondo_relaxed.owl chemically enriched sediment exposure owl:Class UBERON:0029636 biolink:NamedThing lumbar spinal cord gray matter tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000286 biolink:NamedThing smooth muscle cell of rectum A smooth muscle cell that is part of the rectum. tmpte7i6ely_mondo_relaxed.owl smooth muscle fiber of rectum|non-striated muscle fiber of rectum FMA:17522 cell owl:Class ENVO:01001367 biolink:NamedThing primary aerosol formation process A material transport process during which solid or liquid particles are directly introduced into a volume of gas. tmpte7i6ely_mondo_relaxed.owl primary aerosol formation owl:Class MONDO:0003525 biolink:NamedThing pancreatic gastrin-producing neuroendocrine tumor A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. tmpte7i6ely_mondo_relaxed.owl pancreatic G-cell tumor|gastrin-producing neuroendocrine tumor of pancreas|pancreas gastrin-producing neuroendocrine tumor|islet cell tumor, ulcerogenic|pancreatic gastrin producing tumor|pancreatic gastrin-producing neuroendocrine tumor|pancreatic gastrin producing NET NCIT:C95596|MESH:D015408|NCIT:C9069|UMLS:C1368066|DOID:5580 Editor note: determine difference between NCIT:C95596 and NCIT:C9069 owl:Class MONDO:0018965 biolink:NamedThing Alport syndrome A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. tmpte7i6ely_mondo_relaxed.owl Alport syndrome|hereditary nephritis|Alport's syndrome|Alport deafness-nephropathy NCIT:C34842|OMIM:301050|DOID:10983|OMIM:104200|Orphanet:63|ICD10:Q87.8|MedDRA:10001843|UMLS:C1567741|OMIMPS:301050|OMIM:203780|ICD10:Q87.81 https://github.com/monarch-initiative/mondo/issues/3367 owl:Class MONDO:0008585 biolink:NamedThing HELLP syndrome A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems. tmpte7i6ely_mondo_relaxed.owl hypertension, pregnancy-induced|PEE1|hemolysis, elevated liver enzymes, and low platelet count|PREG1|hemolysis-elevated liver enzymes-low platelet count syndrome|hemolysis-elevated liver enzymes-low platelets syndrome|PREECLAMPSIA/eclampsia 1|hemolysis, elevated liver enzymes, low platelets in pregnancy|hemolysis, elevated liver enzymes, lowered platelets|toxemia of pregnancy MedDRA:10049058|GARD:0008528|Orphanet:275555|OMIM:189800|DOID:13133|ICD10:O14.2|Orphanet:244242|UMLS:C0162739|MESH:D017359|NCIT:C84750|EFO:0007297 https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome owl:Class MONDO:0013171 biolink:NamedThing purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. tmpte7i6ely_mondo_relaxed.owl purine nucleoside phosphorylase deficiency|purine-nucleoside phosphorylase deficiency|PNPase deficiency|nucleoside phosphorylase deficiency|deficiency of inosine phosphorylase|PNP deficiency MESH:C562587|DOID:5813|HGNC:7892|GARD:0004606|UMLS:C0268125|SCTID:60743005|Orphanet:760|NCIT:C3963|ICD10:D81.5|OMIM:613179|ICD9:277.2 https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency owl:Class NCBITaxon:42415 biolink:NamedThing Sigmodon hispidus tmpte7i6ely_mondo_relaxed.owl hispid cotton rat|Sigmodon hispiedis GC_ID:1 NCBITaxon:89247 ncbi_taxonomy owl:Class UBERON:0001810 biolink:NamedThing nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0020148 biolink:NamedThing shoot apical meristem A shoot system meristem (PO:0006079) formed at the apex of the shoot axis (PO:0025029), including those originating from an axillary bud meristem (PO:0000232). tmpte7i6ely_mondo_relaxed.owl primary shoot meristem (related)|promeristem (broad)|SAM (exact)|茎頂分裂組織 (Japanese, exact)|meristema apical del epiblasto (epiblastema) (Spanish, exact) PO_GIT:472 plant_anatomy owl:Class HGNC:19687 biolink:NamedThing EIF2AK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010307 biolink:NamedThing intellectual disability, X-linked 73 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 73|MRX73|intellectual disability, X-linked 73 MESH:C564528|UMLS:C1845860|OMIM:300355 owl:Class MONDO:0100252 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 1 tmpte7i6ely_mondo_relaxed.owl Teutschlaender disease, familial|Morbus Teutschlaender|tumoral calcinosis, Hyperphosphatemic, familial, 1|tumoral calcinosis, primary Hyperphosphatemic|HFTC|tumoral calcinosis, hyperphosphatemic, familial|tumoral calcinosis, hyperphosphatemic, familial, 1|HFTC1|hyperostosis-hyperphosphatemia syndrome|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1|calcinosis, tumoral, with hyperphosphatemia OMIM:211900 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:250 biolink:NamedThing ADH1B tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004363 biolink:NamedThing Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating Ca concentration|Abnormal blood calcium levels|Abnormal blood calcium concentration|Abnormal circulating Ca2+ concentration peter 2008-03-17T04:15:00Z HP:0040077 human_phenotype owl:Class MONDO:0032798 biolink:NamedThing ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features tmpte7i6ely_mondo_relaxed.owl ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES|IKSHD OMIM:618527 owl:Class HGNC:37 biolink:NamedThing ABCA7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009157 biolink:NamedThing split hand-foot malformation 6 Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene. tmpte7i6ely_mondo_relaxed.owl SHFM6|WNT10B split hand-foot malformation|split-hand/foot malformation 6|split-hand/foot malformation type 6|split hand-foot malformation type 6|ectrodactyly, autosomal recessive|split hand-foot malformation caused by mutation in WNT10B Orphanet:2440|DOID:0090026|OMIM:225300|UMLS:C0265554|MESH:C567616|ICD10:Q71.6|UMLS:C2749665 owl:Class MONDO:0032866 biolink:NamedThing cortical dysplasia, complex, with other brain malformations 10 tmpte7i6ely_mondo_relaxed.owl CDCBM10|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 OMIM:618677 owl:Class UBERON:0036073 biolink:NamedThing respiratory primordium mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009621 biolink:NamedThing tail somite tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009455 biolink:NamedThing immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes tmpte7i6ely_mondo_relaxed.owl immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes MESH:C565468|OMIM:242870|UMLS:C1855762 owl:Class HGNC:24682 biolink:NamedThing FLVCR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005352 biolink:NamedThing conduct disorder A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. tmpte7i6ely_mondo_relaxed.owl ICD9:312.89|MESH:D019955|ICD10:F91.9|SCTID:430909002|ICD9:312.9|NCIT:C89329|ICD10:F91|EFO:0004216|DOID:12995 owl:Class MONDO:0009214 biolink:NamedThing Fanconi anemia complementation group D2 Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. tmpte7i6ely_mondo_relaxed.owl FANCD2|FA4|Fanconi anemia complementation group D2|Fanconi anemia, complementation group D2|FAD2|Fanconi pancytopenia type 4|Fad2|Fanconi pancytopenia, type 4|Fanconi Anemia, complementation group D DOID:0111083|UMLS:C3160738|NCIT:C125706|OMIM:227646 owl:Class MONDO:0012951 biolink:NamedThing colorectal cancer, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, 8|CRCS8|colorectal cancer, susceptibility to, on chromosome 14Q OMIM:612589 owl:Class CL:0000215 biolink:NamedThing barrier cell A cell whose primary function is to prevent the transport of stuff across compartments. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0009997 biolink:NamedThing Roberts syndrome Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. tmpte7i6ely_mondo_relaxed.owl SC phocomelia syndrome (mild variant of Roberts syndrome)|Roberts tetraphocomelia syndrome|Roberts syndrome/SC phocomelia|SC pseudothalidomide syndrome|pseudothalidomide syndrome|SC phocomelia|Roberts-SC phocomelia syndrome|long bone deficiencies associated with cleft lip-palate|tetraphocomelia-cleft palate syndrome|Appelt-Gerken-Lenz syndrome MESH:C535687|NCIT:C126326|SCTID:48718006|GARD:0007387|ICD10:Q73.8|DOID:5325|NCIT:C4681|Orphanet:3103 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0011559 biolink:NamedThing benign recurrent intrahepatic cholestasis type 2 tmpte7i6ely_mondo_relaxed.owl recurrent familial intrahepatic cholestasis 2|cholestasis, benign recurrent intrahepatic, type 2|BRIC2|cholestasis, benign recurrent intrahepatic, 2|benign recurrent intrahepatic cholestasis 2|Bric type 2|mild ABCB11 deficiency|cholestasis, benign recurrent intrahepatic 2 DOID:0070232|Orphanet:99961|MESH:C535934|OMIM:605479|ICD10:K83.1|Orphanet:65682|GARD:10029|GARD:0010029 https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 owl:Class HGNC:17213 biolink:NamedThing COLEC11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014318 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 4 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene. tmpte7i6ely_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 10|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|hyperphosphatasia with intellectual disability syndrome type 4|HPMRS4|PGAP3 hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 4|hyperphosphatasia with mental retardation syndrome 4|hyperphosphatasia with mental retardation syndrome type 4 OMIM:615716|UMLS:C3810354|Orphanet:247262 owl:Class CHEBI:24319 biolink:NamedThing EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2). tmpte7i6ely_mondo_relaxed.owl EC 6.3.1.2 inhibitor|glutamylhydroxamic synthetase inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|L-glutamate:ammonia ligase (ADP-forming) inhibitors|L-glutamine synthetase inhibitor|glutamine synthetase inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|L-glutamate:ammonia ligase (ADP-forming) inhibitor|glutamine synthetase inhibitor|EC 6.3.1.2 inhibitors|L-glutamine synthetase inhibitors|glutamate--ammonia ligase inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|glutamate--ammonia ligase inhibitor|glutamylhydroxamic synthetase inhibitor owl:Class CHEBI:76823 biolink:NamedThing EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*). tmpte7i6ely_mondo_relaxed.owl acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* inhibitor|EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors|acid-ammonia (or amine) ligase inhibitor|EC 6.3.1.* inhibitors owl:Class UBERON:0005337 biolink:NamedThing outflow tract of ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010349 biolink:NamedThing otic capsule pre-cartilage condensation tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013288 biolink:NamedThing agammaglobulinemia 3, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. tmpte7i6ely_mondo_relaxed.owl autosomal agammaglobulinemia caused by mutation in CD79A|CD79A autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to Cd79A defect|AGM3|agammaglobulinemia 3, autosomal recessive UMLS:C3150751|OMIM:613501|Orphanet:33110|Orphanet:229717 owl:Class MONDO:0033551 biolink:NamedThing immunodeficiency 72 with autoinflammation tmpte7i6ely_mondo_relaxed.owl IMD72|IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION OMIM:618982 owl:Class MONDO:0022323 biolink:NamedThing 2-hydroxyethyl methacrylate sensitization tmpte7i6ely_mondo_relaxed.owl sensitization to 2-hydroxyethyl methacrylate|2-HEMA sensitization MESH:C535305|GARD:0008635|UMLS:C2930873 https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization owl:Class CHEBI:76870 biolink:NamedThing EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*). tmpte7i6ely_mondo_relaxed.owl oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitor|EC 1.9.3.* inhibitors|EC 1.9.3.* inhibitor|EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitors owl:Class HGNC:6439 biolink:NamedThing KRT2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11449 biolink:NamedThing SUCLG1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002110 biolink:NamedThing B220-low CD38-positive naive B cell A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002109 biolink:NamedThing B220-positive CD38-positive naive B cell A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpte7i6ely_mondo_relaxed.owl B220+CD38+ naive B cell|CD38+B220+ naive B-cell|CD38+B220+ naive B cell|B220-positive CD38-positive naive B lymphocyte|B220+CD38+ naive B-cell|B220+CD38+ naive B-lymphocyte|CD38+B220+ naive B lymphocyte|CD38+B220+ naive B-lymphocyte|B220-positive CD38-positive naive B-cell|B220-positive CD38-positive naive B-lymphocyte|B220+CD38+ naive B lymphocyte cell owl:Class GO:0003943 biolink:NamedThing N-acetylgalactosamine-4-sulfatase activity Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. tmpte7i6ely_mondo_relaxed.owl chondroitinsulfatase|N-acetylgalactosamine-4-sulphatase activity|N-acetylgalactosamine 4-sulfate sulfohydrolase activity|arylsulfatase B|N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity|acetylgalactosamine 4-sulfatase activity owl:Class MONDO:0020438 biolink:NamedThing atrial septal aneurysm tmpte7i6ely_mondo_relaxed.owl SCTID:95440004|UMLS:C0521533|ICD10:Q21.1|Orphanet:99107 owl:Class MONDO:0007444 biolink:NamedThing dermal Ridges, patternless tmpte7i6ely_mondo_relaxed.owl dermal Ridges, patternless MESH:C565109|OMIM:125540|UMLS:C1852160 owl:Class MONDO:0010922 biolink:NamedThing Satoyoshi syndrome Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. tmpte7i6ely_mondo_relaxed.owl Komuragaeri disease|Satoyoshi syndrome|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities SCTID:763630007|MedDRA:10070579|UMLS:C1833454|MESH:C536616|GARD:0000160|OMIM:600705|Orphanet:3130 https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome owl:Class HGNC:11599 biolink:NamedThing TBX21 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010182 biolink:NamedThing hypercarotenemia and vitamin A deficiency, autosomal recessive tmpte7i6ely_mondo_relaxed.owl hypercarotenemia and vitamin A deficiency, autosomal recessive OMIM:277350|Orphanet:199285|UMLS:C2678266|MESH:C567486 owl:Class MONDO:0054615 biolink:NamedThing spermatogenic failure 18 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 18|SPGF18 OMIM:617576|DOID:0070165 owl:Class MONDO:0030007 biolink:NamedThing combined oxidative phosphorylation deficiency 41 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 41|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41|COXPD41 OMIM:618838 owl:Class GO:0061448 biolink:NamedThing connective tissue development The progression of a connective tissue over time, from its formation to the mature structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012256 biolink:NamedThing hereditary spastic paraplegia 28 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. tmpte7i6ely_mondo_relaxed.owl hereditary spastic paraplegia 28|autosomal recessive spastic paraplegia type 28|autosomal recessive spastic paraplegia 28|hereditary spastic paraplegia type 28|SPG28|spastic paraplegia 28, autosomal recessive|DDHD1 autosomal recessive pure spastic paraplegia|autosomal recessive pure spastic paraplegia caused by mutation in DDHD1 SCTID:763376002|Orphanet:101008|UMLS:C1836295|OMIM:609340|ICD10:G11.4|MESH:C563732|DOID:0110779 owl:Class MONDO:0018861 biolink:NamedThing Zellweger-like syndrome without peroxisomal anomalies An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl AHN-Lerman-Sagie syndrome SCTID:718880003|UMLS:CN205183|UMLS:C4305104|ICD10:Q87.8|Orphanet:50812 owl:Class MONDO:0018746 biolink:NamedThing mucous membrane pemphigoid Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. tmpte7i6ely_mondo_relaxed.owl cicatricial pemphigoid|ocular pemphigoid|benign mucosal pemphigoid|mucosal pemphigoid|benign mucous membrance pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous membrane pemphigoid|ocular pemphigus|Mucosynechial pemphigoid|benign mucous membrane pemphigoid with ocular involvement|benign mucous Membrane pemphigoid DOID:11656|Orphanet:46486|OMIM:164185|ICD9:694.6|EFO:1000680|GARD:0005913|ICD9:694.61|ICD10:L12.1|SCTID:76092003|NCIT:C34907|MedDRA:10057052 owl:Class MONDO:0015606 biolink:NamedThing Xp22.3 microdeletion syndrome Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. tmpte7i6ely_mondo_relaxed.owl Del(X)(p23) UMLS:CN199978|ICD10:Q99.8|Orphanet:1643|GARD:0013170|SCTID:726733007 https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome owl:Class MONDO:0008910 biolink:NamedThing carboxypeptidase N deficiency An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. tmpte7i6ely_mondo_relaxed.owl carboxypeptidase N deficiency OMIM:212070|NCIT:C132196|UMLS:C0398782|ICD9:279.8|MESH:C562876|SCTID:234627009|DOID:0111583 owl:Class MONDO:0020777 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation 2 tmpte7i6ely_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2|CDGF2 OMIM:618324 owl:Class UBERON:0001234 biolink:NamedThing left adrenal gland tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002673 biolink:NamedThing tongue muscle cell A skeletal muscle cell that is part of the tongue. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-08-16T03:10:02Z cell owl:Class MONDO:0013395 biolink:NamedThing retinitis pigmentosa 4 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. tmpte7i6ely_mondo_relaxed.owl RP4|RHO retinitis pigmentosa|retinitis pigmentosa type 4|retinitis pigmentosa caused by mutation in RHO|retinitis pigmentosa 4|retinitis pigmentosa, rhodopsin-related|RP 4 DOID:0110372|OMIM:613731|HGNC:10012|GARD:0010405|MESH:C566706|UMLS:C3151001|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4 owl:Class MONDO:0011736 biolink:NamedThing Cree intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl Cree mental retardation syndrome|Cree intellectual disability syndrome OMIM:606851|UMLS:C1847361|MESH:C564654 owl:Class MONDO:0004871 biolink:NamedThing perianal hematoma tmpte7i6ely_mondo_relaxed.owl external thrombosed haemorrhoids|Thrombosed external hemorrhoids DOID:9745|SCTID:26373009|ICD9:455.4|ICD10:K64.5 owl:Class HGNC:19698 biolink:NamedThing KCNV2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15808 biolink:NamedThing GZF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25726 biolink:NamedThing LAS1L tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000306 biolink:NamedThing crystallin accumulating cell tmpte7i6ely_mondo_relaxed.owl lens cell FBbt:00004193 cell owl:Class MONDO:0013497 biolink:NamedThing Okt4 epitope deficiency tmpte7i6ely_mondo_relaxed.owl Okt4 epitope deficiency|T4 epitope deficiency OMIM:613949|UMLS:C3151379 owl:Class MONDO:0020084 biolink:NamedThing lymphoproliferative disease associated with primary immune disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN206986|ICD10:D47.9|Orphanet:98291 owl:Class MONDO:0020083 biolink:NamedThing immunodeficiency-associated lymphoproliferative disease tmpte7i6ely_mondo_relaxed.owl ICD10:D47.9|Orphanet:98290|UMLS:CN206985 owl:Class MONDO:0016833 biolink:NamedThing 14q12 microdeletion syndrome 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. tmpte7i6ely_mondo_relaxed.owl Del(14)(q12)|monosomy 14q12 UMLS:CN202163|SCTID:719574007|UMLS:C4305240|ICD10:Q93.5|Orphanet:261144 owl:Class GO:0046873 biolink:NamedThing metal ion transmembrane transporter activity Enables the transfer of metal ions from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl heavy metal ion transporter activity|heavy metal ion porter activity|low affinity metal ion uptake transporter activity|heavy metal ion:hydrogen symporter activity|heavy metal-exporting ATPase activity|high affinity metal ion uptake transporter activity owl:Class HGNC:11600 biolink:NamedThing TBX22 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016307 biolink:NamedThing Niemann-Pick disease type C, severe early infantile neurologic onset tmpte7i6ely_mondo_relaxed.owl ICD10:E75.2|Orphanet:216975|UMLS:CN201113 owl:Class MONDO:0015201 biolink:NamedThing ankyloblepharon filiforme-imperforate anus syndrome An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl Aughton-Hufnagle syndrome|ankyloblepharon filiforme adnatum-imperforate anus syndrome UMLS:CN197555|Orphanet:1074|ICD10:Q87.8 owl:Class MONDO:0009044 biolink:NamedThing Crigler-Najjar syndrome Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. tmpte7i6ely_mondo_relaxed.owl Crigler-Najjar syndrome|UGT deficiency|hereditary unconjugated hyperbilirubinemia|bilirubin UDP glucuronyl transferase deficiency|bilirubin-UGT deficiency|Crigler Najjar syndrome|bilirubin uridinediphosphate glucuronosyltransferase deficiency Orphanet:205|UMLS:C0010324|MESH:D003414|MedDRA:10011386|SCTID:8933000|SCTID:28259009|DOID:3803|OMIM:606785|UMLS:CN119421|OMIM:218800|ICD10:E80.5|NCIT:C84656 owl:Class MONDO:0014550 biolink:NamedThing long QT syndrome 15 Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene. tmpte7i6ely_mondo_relaxed.owl long QT syndrome type 15|CALM2 long QT syndrome|long QT syndrome 15|LQT15|long QT syndrome caused by mutation in CALM2 UMLS:C4015695|Orphanet:101016|DOID:0110656|ICD10:I45.8|Orphanet:768|OMIM:616249 owl:Class MONDO:0016301 biolink:NamedThing congenitally corrected transposition of the great arteries Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. tmpte7i6ely_mondo_relaxed.owl ventriculoarterial and atrioventricular discordance|levo-transposition of the great arteries|transposition of the great vessels, congenitally corrected|levo-transposition of the great vessels|L-transposition of the great arteries|ventricular inversion|Double discordance|congenitally corrected transposition of the great vessels|L-transposition of the great vessels|transposition of the great arteries, congenitally corrected|discordant ventriculoarterial and atrioventricular connections NCIT:C98902|ICD10:Q20.5|GARD:0001544|MESH:C535426|ICD9:745.12|SCTID:83799000|UMLS:C3274488|Orphanet:216694|MedDRA:10011120 https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries owl:Class MONDO:0006974 biolink:NamedThing small cell sarcoma A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. tmpte7i6ely_mondo_relaxed.owl small cell sarcoma|small cell sarcomas DOID:3098|EFO:1001184|UMLS:C0206652|NCIT:C3746|ICDO:8803/3|MESH:D018228 owl:Class MONDO:0004682 biolink:NamedThing retromolar area cancer A malignant form of neoplasm of retromolar area. tmpte7i6ely_mondo_relaxed.owl neoplasm of retromolar area, malignant|malignant tumor of retromolar area|malignant neoplasm of retromolar area SCTID:363391009|ICD10:C06.2|DOID:8930|ICD9:145.6 owl:Class MONDO:0001394 biolink:NamedThing chronic erythremia tmpte7i6ely_mondo_relaxed.owl DOID:11868|ICD9:207.1 owl:Class MONDO:0003593 biolink:NamedThing breast liposarcoma A malignant adipose tissue neoplasm of the breast. tmpte7i6ely_mondo_relaxed.owl liposarcoma of the breast|liposarcoma of breast|breast liposarcoma NCIT:C5187|DOID:5701|UMLS:C1332632 owl:Class MONDO:0010840 biolink:NamedThing pachygyria-intellectual disability-epilepsy syndrome A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. tmpte7i6ely_mondo_relaxed.owl Kuzniecky syndrome|pachygyria with intellectual disability, seizures, and arachnoid cysts|pachygyria, mental retardation and epilepsy|pachygyria with mental retardation and seizures|pachygyria with mental retardation, seizures, and arachnoid cysts|pachygyria with intellectual disability and seizures|pachygyria, intellectual disability and epilepsy GARD:0000409|UMLS:C1838491|MESH:C538091|SCTID:763861000|ICD10:G40.4|OMIM:600176|Orphanet:2798 owl:Class HGNC:28722 biolink:NamedThing COQ5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29222 biolink:NamedThing ZNF644 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:78017 biolink:NamedThing food propellant A propellant that is used to expel foods from an aerosol container. tmpte7i6ely_mondo_relaxed.owl food propellants owl:Class MONDO:0012182 biolink:NamedThing skeletal dysplasia, rhizomelic, with retinitis pigmentosa tmpte7i6ely_mondo_relaxed.owl skeletal dysplasia, rhizomelic, with retinitis pigmentosa UMLS:C1836898|OMIM:609047|MESH:C563806 owl:Class NCBITaxon:11089 biolink:NamedThing Yellow fever virus tmpte7i6ely_mondo_relaxed.owl YFV|yellow fever virus YFV|Flavivirus febricis GC_ID:1 ncbi_taxonomy owl:Class PATO:0002266 biolink:NamedThing 3-D shape A shape that inheres in a 3 dimensional entity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001442 biolink:NamedThing dysthymic disorder A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. tmpte7i6ely_mondo_relaxed.owl dysthymia ICD10:F34.1|MESH:D019263|DOID:12139|NCIT:C34562|SCTID:78667006|EFO:0008623|ICD9:300.4 owl:Class MONDO:0014883 biolink:NamedThing hypertrophic cardiomyopathy 26 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in FLNC|FLNC hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 26|cardiomyopathy, familial hypertrophic, 26|cardiomyopathy familial hypertrophic 26|cardiomyopathy, familial hypertrophic, type 26|CMH26|cardiomyopathy, familial restrictive, 5 UMLS:C4310749|OMIM:617047|DOID:0110327 owl:Class MONDO:0010062 biolink:NamedThing spinocerebellar ataxia-dysmorphism syndrome Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia with dysmorphism GARD:0004958|ICD10:G11.8|OMIM:271270|Orphanet:1185|MESH:C564802|UMLS:C1849088 owl:Class HGNC:15999 biolink:NamedThing SELENON tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030339 biolink:NamedThing microcephaly 28, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl microcephaly 28, primary, autosomal recessive|MCPH28 OMIM:619453 owl:Class MONDO:0016360 biolink:NamedThing marcothrombocytopenia with mitral valve insufficiency Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. tmpte7i6ely_mondo_relaxed.owl Orphanet:220448|ICD10:D69.4 owl:Class CL:0000352 biolink:NamedThing epiblast cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. tmpte7i6ely_mondo_relaxed.owl cell owl:Class GO:0034309 biolink:NamedThing primary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpte7i6ely_mondo_relaxed.owl primary alcohol anabolism|primary alcohol formation|primary alcohol synthesis|monohydric alcohol biosynthetic process|primary alcohol biosynthesis owl:Class MONDO:0012779 biolink:NamedThing celiac disease, susceptibility to, 10 tmpte7i6ely_mondo_relaxed.owl celiac disease, susceptibility to, 10|gluten-sensitive enteropathy, susceptibility to, 10|CELIAC10 OMIM:612008 owl:Class MONDO:0044663 biolink:NamedThing aquagenic palmoplantar keratoderma Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis. tmpte7i6ely_mondo_relaxed.owl aquagenic palmoplantar keratoderma|aquagenic keratoderma|Transient reactive papulotranslucent acrokeratoderma|aquagenic wrinkling of the palms|aquagenic wrinkling of the hands|aquagenic syringeal acrokeratoderma|transient reactive papulotranslucent acrokeratoderma GARD:0012991|Orphanet:498359 owl:Class MONDO:0001562 biolink:NamedThing displacement of cardia through esophageal hiatus tmpte7i6ely_mondo_relaxed.owl congenital hiatus hernia SCTID:47028006|ICD9:750.6|ICD10:Q40.1|DOID:12641 owl:Class MONDO:0012459 biolink:NamedThing hypertension, essential, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl hypertension, essential, susceptibility to, type 6|hypertension, essential, kidney function-related|hypertension, essential, susceptibility to, 6|Hyt6 OMIM:610262 owl:Class MONDO:0001646 biolink:NamedThing benign secondary hypertension Mild to moderate high blood pressure that is caused by an underlying medical condition. tmpte7i6ely_mondo_relaxed.owl SCTID:194785008|NCIT:C3658|DOID:13143|ICD9:405.1|ICD9:405.19|UMLS:C0155620 owl:Class MONDO:0011568 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 25 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. tmpte7i6ely_mondo_relaxed.owl DFNA25|autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8|autosomal dominant deafness 25|autosomal dominant nonsyndromic deafness 25|SLC17A8 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 25|deafness, autosomal dominant 25|autosomal dominant nonsyndromic deafness type 25 DOID:0110555|MESH:C565319|OMIM:605583|ICD10:H90.3|Orphanet:90635|UMLS:C1854158 owl:Class MONDO:0000909 biolink:NamedThing Bartter disease type 4B A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. tmpte7i6ely_mondo_relaxed.owl Bartter syndrome, infantile, with sensorineural deafness|BARTS4B|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|Bartter syndrome, type 4B|Bartter syndrome, type 4b, digenic|neonatal Bartter syndrome type 4B with sensorineural deafness|Bartter disease type 4B UMLS:C2751312|OMIM:613090|Orphanet:112|ICD10:E26.8|Orphanet:89938|DOID:0110146 owl:Class NCBITaxon:775 biolink:NamedThing Rickettsiaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:8240958|PMID:2592342|PMID:11760958 ncbi_taxonomy owl:Class MONDO:0003941 biolink:NamedThing classic variant of chromophobe renal cell carcinoma tmpte7i6ely_mondo_relaxed.owl classic variant of chromophobe renal cell carcinoma DOID:6605|UMLS:C1333062|NCIT:C27888 owl:Class MONDO:0017191 biolink:NamedThing sporadic pheochromocytoma tmpte7i6ely_mondo_relaxed.owl Orphanet:276624|UMLS:CN202631|ICD10:D35.0|ICD10:C74.1 owl:Class MONDO:0017190 biolink:NamedThing sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. tmpte7i6ely_mondo_relaxed.owl ICD10:D35.0|ICD10:C74.1|GARD:0007385|UMLS:CN202630|Orphanet:276621 owl:Class GO:0042571 biolink:NamedThing immunoglobulin complex, circulating An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. tmpte7i6ely_mondo_relaxed.owl antibody owl:Class HGNC:1044 biolink:NamedThing BGN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009657 biolink:NamedThing Sanfilippo syndrome type C A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. tmpte7i6ely_mondo_relaxed.owl MPSIIIC|Mucopoly-saccharidosis type 3C|Sanfilippo syndrome C|mucopolysaccharidosis type IIIC|Sanfilippo C|MPS 3C|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency|Sanfilippo syndrome type C|mucopolysaccharidosis, type 3C|HGSNAT deficiency|mucopolysaccharidosis, type IIIC|MPS3C|MPS IIIC|MPS III C|heparan-alpha-glucosaminide N-acetyltransferase deficiency|mucopolysaccharidosis type 3C NCIT:C84899|GARD:0007073|Orphanet:79271|SCTID:75238000|ICD10:E76.2|UMLS:C0086649|OMIM:252930|Orphanet:581|DOID:0111393 owl:Class MONDO:0006419 biolink:NamedThing small intestinal intraepithelial neoplasia A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion. tmpte7i6ely_mondo_relaxed.owl small intestinal intraepithelial neoplasia|small intestinal dysplasia EFO:1000536|NCIT:C27462|UMLS:C1335999 owl:Class MONDO:0018498 biolink:NamedThing double outlet right ventricle with subaortic or doubly committed ventricular septal defect tmpte7i6ely_mondo_relaxed.owl DORV with subaortic or doubly committed VSD ICD10:Q20.1|Orphanet:423693 owl:Class ECTO:0000590 biolink:NamedThing exposure to vasodilator agent An exposure to vasodilator agent. tmpte7i6ely_mondo_relaxed.owl exposure to vasodilator agent owl:Class MONDO:0100163 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in children A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms. tmpte7i6ely_mondo_relaxed.owl multisystem inflammatory syndrome in children associated with COVID-19|pediatric inflammatory multisystem syndrome|PIMS-TS|pediatric multisystem inflammatory syndrome|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|PMIS|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|MIS-C|COVID-19 -related pediatric inflammatory multisystem syndrome|SARS-CoV-2 Kawasaki-like syndrome|COVID-19 associated multisystem inflammatory syndrome in children|multisystem inflammatory syndrome in children|pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|COVID-19 Kawasaki-like syndrome|paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|PIMS DOID:0080711|NCIT:C172127 The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0035375 biolink:NamedThing multisystem inflammatory syndrome in children and adults tmpte7i6ely_mondo_relaxed.owl MIS-C/A Orphanet:598363|ICD10:U10.9 owl:Class CHEBI:60242 biolink:NamedThing monovalent inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. tmpte7i6ely_mondo_relaxed.owl a monovalent cation owl:Class GO:0030810 biolink:NamedThing positive regulation of nucleotide biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpte7i6ely_mondo_relaxed.owl up-regulation of nucleotide biosynthetic process|up regulation of nucleotide biosynthetic process|upregulation of nucleotide biosynthetic process|positive regulation of nucleotide biosynthesis|positive regulation of nucleotide anabolism|stimulation of nucleotide biosynthetic process|activation of nucleotide biosynthetic process|positive regulation of nucleotide synthesis|positive regulation of nucleotide formation owl:Class MONDO:0020815 biolink:NamedThing dentigerous cyst Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. tmpte7i6ely_mondo_relaxed.owl dentigerous cyst of jaw|follicular cyst of jaw|Dentigerous Cysts|dentigerous odontogenic cyst|Cysts, Dentigerous|Dentigerous cyst of jaw|Cyst, Dentigerous|Dentigerous Cyst|Dentigerous odontogenic cyst|Dentigerous cyst|dentigerous cyst UMLS:C0011428|MESH:D003803|SCTID:9245008 owl:Class HP:0000233 biolink:NamedThing Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). tmpte7i6ely_mondo_relaxed.owl Thin vermilion borders|Decreased volume of lip vermillion|Decreased volume of lip|Thin lips|Thin vermillion SNOMEDCT_US:301348000|UMLS:C0578038 The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. HP:0000213 human_phenotype owl:Class HGNC:25151 biolink:NamedThing ADAT3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004339 biolink:NamedThing Abnormal circulating sulfur amino acid concentration Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids UMLS:C4021660 Cysteine and methionine contain a sulfur atom. peter 2008-03-08T08:01:00Z human_phenotype owl:Class HP:0033107 biolink:NamedThing Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpte7i6ely_mondo_relaxed.owl 2020-08-29 11:59:15+00:00 peter human_phenotype owl:Class MONDO:0016478 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.3|Orphanet:231130|UMLS:CN201473 owl:Class MONDO:0005859 biolink:NamedThing mucocutaneous leishmaniasis The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. tmpte7i6ely_mondo_relaxed.owl American mucocutaneous leishmaniasis|mucocutaneous leishmaniasis, American|cutaneous leishmaniasis, American|New World cutaneous leishmaniasis|mucocutaneous leishmaniasis, (American)|American cutaneous leishmaniasis UMLS:C3495436|UMLS:C1328252|ICD10:B55.2|EFO:0007379|ICD9:085.5|DOID:9155|NCIT:C34769|MESH:D007897 owl:Class MONDO:0054861 biolink:NamedThing intellectual disability, autosomal recessive 63 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 63|MRT63|intellectual disability, autosomal recessive 63 OMIM:618095 owl:Class MONDO:0009571 biolink:NamedThing Meckel syndrome, type 1 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpte7i6ely_mondo_relaxed.owl Meckel syndrome 1|MKS|Meckel Gruber syndrome|MKS1|Meckel-Gruber syndrome|Meckel syndrome|Dysencephalia splachnocystica|Meckel-Gruber syndrome, type 1|Gruber syndrome|Dysencephalia Splanchnocystica|Meckel syndrome caused by mutation in MKS1|MKS1 Meckel syndrome|Mes|Meckel syndrome, type 1|Meckel syndrome type1 UMLS:C3714506|OMIM:249000|Orphanet:564|DOID:0070115|MESH:C536133|ICD10:Q61.9 owl:Class GO:1901717 biolink:NamedThing positive regulation of gamma-aminobutyric acid catabolic process Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpte7i6ely_mondo_relaxed.owl activation of gamma-aminobutyric acid catabolic process|activation of gamma-aminobutyric acid catabolism|up-regulation of GABA catabolic process|positive regulation of gamma-aminobutyric acid breakdown|up-regulation of 4-aminobutyrate catabolic process|positive regulation of gamma-aminobutyric acid catabolism|up-regulation of gamma-aminobutyric acid catabolic process|positive regulation of 4-aminobutyrate catabolic process|up regulation of 4-aminobutyrate catabolic process|upregulation of gamma-aminobutyric acid degradation|up regulation of GABA catabolism|up-regulation of 4-aminobutanoate catabolism|positive regulation of 4-aminobutanoate catabolic process|positive regulation of gamma-aminobutyric acid degradation|up-regulation of gamma-aminobutyric acid degradation|positive regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid degradation|upregulation of 4-aminobutyrate catabolism|upregulation of 4-aminobutanoate catabolic process|activation of gamma-aminobutyric acid breakdown|activation of 4-aminobutyrate catabolic process|up-regulation of GABA catabolism|up regulation of 4-aminobutanoate catabolism|up regulation of 4-aminobutanoate catabolic process|activation of gamma-aminobutyric acid degradation|activation of GABA catabolism|activation of 4-aminobutanoate catabolic process|activation of 4-aminobutyrate catabolism|upregulation of gamma-aminobutyric acid catabolic process|upregulation of GABA catabolic process|positive regulation of 4-aminobutanoate catabolism|upregulation of 4-aminobutanoate catabolism|up regulation of 4-aminobutyrate catabolism|positive regulation of GABA catabolism|upregulation of 4-aminobutyrate catabolic process|activation of GABA catabolic process|up regulation of GABA catabolic process|up-regulation of gamma-aminobutyric acid breakdown|up-regulation of 4-aminobutanoate catabolic process|activation of 4-aminobutanoate catabolism|upregulation of gamma-aminobutyric acid catabolism|up regulation of gamma-aminobutyric acid catabolism|up regulation of gamma-aminobutyric acid catabolic process|up-regulation of gamma-aminobutyric acid catabolism|upregulation of gamma-aminobutyric acid breakdown|positive regulation of GABA catabolic process|upregulation of GABA catabolism|up regulation of gamma-aminobutyric acid breakdown|up-regulation of 4-aminobutyrate catabolism owl:Class HGNC:4446 biolink:NamedThing GPAA1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904775 biolink:NamedThing positive regulation of ubiquinone biosynthetic process Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process. tmpte7i6ely_mondo_relaxed.owl upregulation of ubiquinone anabolism|upregulation of coenzyme Q9 biosynthetic process|up regulation of ubiquinone synthesis|upregulation of ubiquinone biosynthetic process|up-regulation of coenzyme Q9 biosynthesis|upregulation of ubiquinone biosynthesis|upregulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q biosynthetic process|activation of coenzyme Q6 biosynthetic process|up regulation of coenzyme Q8 biosynthetic process|up regulation of coenzyme Q9 biosynthesis|activation of ubiquinone biosynthesis|up regulation of coenzyme Q6 biosynthesis|activation of coenzyme Q8 biosynthetic process|up regulation of coenzyme Q9 biosynthetic process|up-regulation of coenzyme Q10 biosynthesis|up-regulation of ubiquinone synthesis|positive regulation of coenzyme Q9 biosynthesis|up regulation of ubiquinone biosynthetic process|activation of ubiquinone anabolism|up-regulation of coenzyme Q9 biosynthetic process|up-regulation of ubiquinone biosynthetic process|positive regulation of ubiquinone biosynthesis|activation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q8 biosynthesis|upregulation of coenzyme Q10 biosynthetic process|upregulation of ubiquinone synthesis|up-regulation of coenzyme Q biosynthesis|positive regulation of ubiquinone anabolism|up regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q9 biosynthesis|up-regulation of ubiquinone biosynthesis|up regulation of coenzyme Q biosynthetic process|upregulation of coenzyme Q8 biosynthetic process|upregulation of coenzyme Q10 biosynthesis|activation of ubiquinone formation|activation of coenzyme Q6 biosynthesis|activation of coenzyme Q10 biosynthesis|positive regulation of coenzyme Q10 biosynthetic process|up regulation of ubiquinone biosynthesis|positive regulation of coenzyme Q biosynthesis|up-regulation of coenzyme Q biosynthetic process|up regulation of coenzyme Q10 biosynthetic process|positive regulation of coenzyme Q6 biosynthetic process|upregulation of coenzyme Q biosynthesis|up regulation of coenzyme Q biosynthesis|positive regulation of ubiquinone synthesis|activation of ubiquinone biosynthetic process|activation of coenzyme Q biosynthesis|positive regulation of ubiquinone formation|up-regulation of ubiquinone formation|activation of coenzyme Q8 biosynthesis|positive regulation of coenzyme Q8 biosynthetic process|positive regulation of coenzyme Q6 biosynthesis|up-regulation of coenzyme Q8 biosynthetic process|positive regulation of coenzyme Q10 biosynthesis|positive regulation of coenzyme Q9 biosynthetic process|up-regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q6 biosynthesis|activation of ubiquinone synthesis|up-regulation of ubiquinone anabolism|activation of coenzyme Q biosynthetic process|up regulation of ubiquinone formation|up-regulation of coenzyme Q6 biosynthetic process|up regulation of ubiquinone anabolism|upregulation of coenzyme Q6 biosynthetic process|up regulation of coenzyme Q10 biosynthesis|up regulation of coenzyme Q6 biosynthetic process|upregulation of ubiquinone formation|activation of coenzyme Q9 biosynthetic process|upregulation of coenzyme Q6 biosynthesis|activation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q8 biosynthesis owl:Class ENVO:01000420 biolink:NamedThing building part A building part is a construction which is part of a building. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010647 biolink:NamedThing spermatogenic failure, X-linked, 2 Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. tmpte7i6ely_mondo_relaxed.owl TEX11 azoospermia|spermatogenic failure, X-linked, type 2|azoospermia caused by mutation in TEX11|Male infertility from defect in meiosis|SPGFX2|spermatogenic failure, X-linked, 2 UMLS:C1839841|OMIM:309120|DOID:0070185 owl:Class MONDO:0012838 biolink:NamedThing inflammatory bowel disease 16 An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32. tmpte7i6ely_mondo_relaxed.owl IBD16|inflammatory bowel disease 16|inflammatory bowel disease type 16 MESH:C567380|UMLS:C2677093|DOID:0110896|OMIM:612259 owl:Class MONDO:0022552 biolink:NamedThing Bazopoulou Kyrkanidou syndrome tmpte7i6ely_mondo_relaxed.owl MESH:C537664|UMLS:C2931580 owl:Class HGNC:11335 biolink:NamedThing SSX1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:29960 biolink:NamedThing Penaeus indicus tmpte7i6ely_mondo_relaxed.owl Penaeus (Fenneropenaeus) indicus|Fenneropenaeus indicus GC_ID:1 ncbi_taxonomy owl:Class HGNC:17768 biolink:NamedThing TDP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022993 biolink:NamedThing dipsogenic diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. tmpte7i6ely_mondo_relaxed.owl primary polydipsia|dipsogenic diabetes insipidus|Dipsogenic diabetes insipidus MESH:C548013|GARD:0010703|UMLS:C0268813|SCTID:82800008|NCIT:C129735 https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus owl:Class MONDO:0002061 biolink:NamedThing intraductal papillary breast neoplasm A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma. tmpte7i6ely_mondo_relaxed.owl intraductal papillary breast neoplasm DOID:1628|NCIT:C36090|UMLS:C1334252 owl:Class MONDO:0009219 biolink:NamedThing fascial dystrophy, congenital tmpte7i6ely_mondo_relaxed.owl fascial dystrophy, congenital ICD9:709.8|Orphanet:2833|MESH:C563219|OMIM:228020|SCTID:399948007 owl:Class MONDO:0008492 biolink:NamedThing stiff skin syndrome A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. tmpte7i6ely_mondo_relaxed.owl STIFF skin syndrome|SSKS|stiff skin syndrome Orphanet:2833|OMIM:228020|NCIT:C118636|OMIM:184900|GARD:0005025|ICD10:L98.8|DOID:0111561|MESH:C566112|UMLS:C1861456|SCTID:765187004 https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome owl:Class MONDO:0012082 biolink:NamedThing asperger syndrome, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 1|ASPG1 UMLS:C1837646|OMIM:608638 owl:Class MONDO:0009765 biolink:NamedThing ocular myopathy with curare sensitivity tmpte7i6ely_mondo_relaxed.owl ocular myopathy with curare sensitivity MESH:C564937|UMLS:C1850341|OMIM:257600 owl:Class MONDO:0030064 biolink:NamedThing episodic ataxia, type 9 tmpte7i6ely_mondo_relaxed.owl EA9|episodic ataxia, type 9|EPISODIC ATAXIA, TYPE 9 OMIM:618924 owl:Class MONDO:0010057 biolink:NamedThing spinal muscular atrophy, Ryukyuan type tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, Ryukyuan type|Ryukyuan muscular atrophy|spinal muscular atrophy Ryukyuan type OMIM:271200|UMLS:C1849102|GARD:0009646|MESH:C536881 https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type owl:Class MONDO:0018016 biolink:NamedThing classic neuroendocrine tumor of appendix Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. tmpte7i6ely_mondo_relaxed.owl classic appendix neuroendocrine tumor|classic appendiceal neuroendocrine tumor UMLS:CN204231|ICD10:D37.3|Orphanet:329977 owl:Class NCBITaxon:5234 biolink:NamedThing Tremellales tmpte7i6ely_mondo_relaxed.owl jelly fungi PMID:17572334|GC_ID:1 NCBITaxon:165809|NCBITaxon:34476|NCBITaxon:106739 ncbi_taxonomy owl:Class UBERON:8410033 biolink:NamedThing lymph node vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010727 biolink:NamedThing Russell-silver syndrome, X-linked tmpte7i6ely_mondo_relaxed.owl Partington syndrome|Russell-Silver-like syndrome with skin pigmentation|Russell-silver syndrome, X-linked OMIM:312780|SCTID:702412005|ICD9:758.81|Orphanet:813 owl:Class MONDO:0022985 biolink:NamedThing diffuse cavernous hemangioma of the rectum tmpte7i6ely_mondo_relaxed.owl cavernous haemangioma of the rectum GARD:0010750 https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum owl:Class HGNC:11795 biolink:NamedThing THPO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013651 biolink:NamedThing intellectual disability, autosomal recessive 18 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 18|intellectual disability, autosomal recessive 18|MED23 autosomal recessive non-syndromic intellectual disability|MED23|autosomal recessive nonsyndromic mental retardation-18|autosomal recessive nonsyndromic intellectual disability-18|MRT18|intellectual disability, autosomal recessive type 18|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23|mental retardation, autosomal recessive type 18 UMLS:C3280265|GARD:0012233|OMIM:614249 owl:Class MONDO:0018301 biolink:NamedThing interstitial cystitis A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. tmpte7i6ely_mondo_relaxed.owl IC/BPS|bladder pain syndrome|painful bladder syndrome|ulcerative cystitis|interstitial cystitis/painful bladder syndrome|IC/PBS|chronic interstitial cystitis|interstitial cystitis, chronic|interstitial cystitis/bladder pain syndrome ICD10:N30.1|UMLS:C0282488|UMLS:C1720830|DOID:13949|UMLS:CN204884|NCIT:C27189|DOID:1678|MedDRA:10008927|Orphanet:37202|UMLS:C0600040|ICD9:595.1|MESH:D018856|MedDRA:10011796|SCTID:111409009|EFO:1000869|SCTID:197834003 owl:Class MONDO:0007074 biolink:NamedThing ainhum Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. tmpte7i6ely_mondo_relaxed.owl Dactylolysis|ainhum (disease)|Dactylolysis spontanea|ainhum|spontaneous dactylolysis ainhum (disease) GARD:0009512|NCIT:C84544|ICD9:136.0|UMLS:C0001860|MESH:D000387|HP:0031009|SCTID:38528001|DOID:11329|OMIM:103400|ICD10:L94.6 https://github.com/monarch-initiative/mondo/issues/3605 owl:Class MONDO:0020527 biolink:NamedThing ectopic Cushing syndrome Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. tmpte7i6ely_mondo_relaxed.owl occult ectopic ACTH secretion|paraneoplastic Cushing syndrome|ectopic ACTH secreting tumor|adrenocorticotropic hormone secretion syndrome|Cushing syndrome due to ectopic ACTH secretion|ectopic Cushing syndrome Orphanet:99889|ICD10:E24.3|DOID:0060890|UMLS:CN207427 owl:Class UBERON:8410043 biolink:NamedThing bronchus submucosal gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021661 biolink:NamedThing coronary atherosclerosis Atherosclerosis of the coronary vasculature. tmpte7i6ely_mondo_relaxed.owl coronary artery arteriosclerosis (disease)|atherosclerosis of coronary artery|coronary artery arteriosclerosis disorder|arteriosclerosis disorder of coronary artery|coronary atherosclerosis ICD9:414.00|SCTID:443502000|NCIT:C35505 owl:Class MONDO:0002134 biolink:NamedThing physiological sexual disorder Physiological disturbances in normal sexual performance in either the male or the female. tmpte7i6ely_mondo_relaxed.owl sexual dysfunctions, physiological|sexual disorder, physiological|Sex disorders|physiological sexual disorders|physiological sexual dysfunctions|physiological sexual dysfunction|physiological sexual disorder|sexual dysfunction|sexual disorders, physiological ICD10:F52.9|DOID:1876|SCTID:231532002|ICD10:R37|NCIT:C3347|UMLS:C0549622|MESH:D012735 owl:Class UBERON:0010498 biolink:NamedThing pseudostratified columnar epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010676 biolink:NamedThing muscular dystrophy, Hemizygous lethal type tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, Hemizygous lethal type MESH:C564097|UMLS:C1839671|OMIM:309950 owl:Class MONDO:0015446 biolink:NamedThing atypical coarctation of aorta Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). tmpte7i6ely_mondo_relaxed.owl mid-aortic dysplastic syndrome|middle aortic syndrome|mid-aortic syndrome|Midaortic syndrome|coarctation of the abdominal aorta Orphanet:1456|UMLS:C3496579|ICD10:Q25.1|SCTID:471268000|UMLS:C3805239 owl:Class MONDO:0007676 biolink:NamedThing glutathione transferase activity toward trans-stilbene oxide tmpte7i6ely_mondo_relaxed.owl trans-stilbene oxide glutathione transferase activity|glutathione transferase activity toward trans-stilbene oxide OMIM:138340 owl:Class MONDO:0009708 biolink:NamedThing myopathy, myosin storage, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MSMB|myopathy, hyaline body, autosomal recessive|myopathy, myosin storage, autosomal recessive OMIM:255160|Orphanet:53698|DOID:0111268|MESH:C564970|UMLS:C1850709 owl:Class UBERON:0008188 biolink:NamedThing tendon of biceps brachii tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2172821 biolink:NamedThing Multicrustacea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8049 biolink:NamedThing Gadus morhua tmpte7i6ely_mondo_relaxed.owl Atlantic cod GC_ID:1 ncbi_taxonomy owl:Class CHEBI:35568 biolink:NamedThing mancude ring Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds. tmpte7i6ely_mondo_relaxed.owl mancude-ring systems|mancude rings|mancunide-ring systems owl:Class MONDO:0010829 biolink:NamedThing CARASIL syndrome CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. tmpte7i6ely_mondo_relaxed.owl cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy|CARASIL|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|Maeda syndrome|subcortical vascular encephalopathy, progressive|cerebrovascular disease with thin skin, alopecia, and disc disease Orphanet:199354|ICD10:F01.1|DOID:13945|GARD:0010424|MESH:C563990|UMLS:C1838577|SCTID:703219008|OMIM:600142 owl:Class MONDO:0014768 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene. tmpte7i6ely_mondo_relaxed.owl HTRA1 CADASIL|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2|CADASIL 2|CADASIL2|CADASIL caused by mutation in HTRA1|CADASIL type 2 OMIM:616779|UMLS:C4225211|DOID:0111036|ICD10:F01.1 owl:Class MONDO:0004801 biolink:NamedThing unilateral hypoactive labyrinth tmpte7i6ely_mondo_relaxed.owl DOID:9496|UMLS:C0155517|ICD9:386.53 owl:Class MONDO:0011745 biolink:NamedThing duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery tmpte7i6ely_mondo_relaxed.owl duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery GARD:0009227|OMIM:606894|MESH:C535722|UMLS:C1847196 https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery owl:Class MONDO:0022975 biolink:NamedThing diaphragmatic agenesis radial aplasia omphalocele tmpte7i6ely_mondo_relaxed.owl GARD:0001843 https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele owl:Class HP:0010766 biolink:NamedThing Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur. tmpte7i6ely_mondo_relaxed.owl UMLS:C3806226 doelkens 2010-04-27T09:52:59Z human_phenotype owl:Class UBERON:0004895 biolink:NamedThing alveolar smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007834 biolink:NamedThing islet cell adenomatosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. tmpte7i6ely_mondo_relaxed.owl Insulinomatosis and diabetes mellitus|INSULINOMATOSIS and diabetes mellitus|Nesidioblastosis|INSDM|islet cell adenomatosis NCIT:C4375|MESH:C563258|UMLS:C1578917|OMIM:147630|SCTID:274944000 owl:Class MONDO:0600030 biolink:NamedThing B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults. tmpte7i6ely_mondo_relaxed.owl B-lymphoblastic leukemia/lymphoma with TCF3-PBX1|B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)|B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) ICD10CM:C91.0|Orphanet:585956|SCTID:450956008|DOID:0080649|NCIT:C80347 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0004947 biolink:NamedThing B-cell acute lymphoblastic leukemia A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl precursor B lymphoblastic leukemia/lymphoma|B lymphoblastic leukemia/lymphoma|precursor B lymphoblastic lymphoma/leukemia|precursor B-lymphoblastic lymphoma/leukemia SCTID:277571004|DOID:0080630|DOID:7061|EFO:0000094|NCIT:C8936 owl:Class MONDO:0019076 biolink:NamedThing circumscribed palmoplantar hypokeratosis Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin. tmpte7i6ely_mondo_relaxed.owl Orphanet:69744 owl:Class MONDO:0032584 biolink:NamedThing ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis tmpte7i6ely_mondo_relaxed.owl ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS|ECTD14 OMIM:618180|DOID:0111662 owl:Class MONDO:0014647 biolink:NamedThing developmental and epileptic encephalopathy, 50 tmpte7i6ely_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type Iz|CDG-Iz|CAD-CDG|congenital disorder of glycosylation type 1z|EIEE50|DEE50|CDG syndrome type Iz|CDG1Z|congenital disorder of glycosylation, type Iz, formerly|congenital disorder of glycosylation, type Iz|epileptic encephalopathy, early infantile, 50 UMLS:C4225320|DOID:0080419|ICD10:E77.8|OMIM:616457|Orphanet:448010 owl:Class MONDO:0007963 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl B-K Mole syndrome|melanoma, cutaneous malignant, susceptibility to, 1|dysplastic Nevus syndrome, hereditary|melanoma, cutaneous malignant|melanoma, familial|familial atypical Mole-malignant melanoma syndrome|melanoma, malignant|CMM1 SCTID:254819008|OMIM:155600|Orphanet:404560|Orphanet:618 owl:Class UBERON:0035267 biolink:NamedThing neck of gallbladder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044137 biolink:NamedThing vitreous body disorder Any disease affecting the vitreous body of the eye. tmpte7i6ely_mondo_relaxed.owl disorder of vitreous body|vitreous body disorder|disease of vitreous body|disease or disorder of vitreous body|vitreous body disease or disorder|vitreous body disease EFO:0008624|NCIT:C45256|UMLS:C0155365|ICD9:379.29|SCTID:76682005 owl:Class UBERON:0007255 biolink:NamedThing intervertebral disk of lumbar vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002347 biolink:NamedThing barbiturate dependence A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. tmpte7i6ely_mondo_relaxed.owl SCTID:231472009|ICD9:304.11|DOID:2575|ICD9:304.13 owl:Class MONDO:0006655 biolink:NamedThing aortic valve prolapse The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation. tmpte7i6ely_mondo_relaxed.owl DOID:5232|EFO:1000815|MESH:D001023|MedDRA:10057454|UMLS:C0003505 owl:Class MONDO:0006583 biolink:NamedThing necrobiosis lipoidica Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring. tmpte7i6ely_mondo_relaxed.owl necrobiosis lipoidica|necrobiosis lipoidica diabeticorum (formerly) UMLS:C0027538|GARD:0013040|Wikipedia:Necrobiosis_lipoidica|DOID:3486|MESH:D009335|EFO:1000738|SCTID:9418005|Orphanet:542592|NCIT:C34840|ICD10:L92.1 https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica owl:Class MONDO:0032526 biolink:NamedThing spinocerebellar ataxia 48 tmpte7i6ely_mondo_relaxed.owl SCA48|SPINOCEREBELLAR ATAXIA 48 DOID:0111746|OMIM:618093 owl:Class CHEBI:24662 biolink:NamedThing hydroxy-amino acid A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006977 biolink:NamedThing spermatocele A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. tmpte7i6ely_mondo_relaxed.owl MedDRA:10041490|NCIT:C120909|SCTID:49263001|UMLS:C0037859|DOID:11997|ICD9:608.1|MESH:D013088|ICD10:N43.4|EFO:1001189|ICD10:N43.40|ICD10:N50.3|NCIT:C3865 owl:Class UBERON:0011857 biolink:NamedThing acinus of lacrimal gland tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000488 biolink:NamedThing visible light photoreceptor cell A photoreceptor cell that detects visible light. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0012829 biolink:NamedThing inflammatory bowel disease 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3 tmpte7i6ely_mondo_relaxed.owl IBD12|inflammatory bowel disease type 12|inflammatory bowel disease 12 OMIM:612241|DOID:0110887|UMLS:C2677105|MESH:C567388 owl:Class UBERON:0001425 biolink:NamedThing pectoral lymphatic vessel tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009272 biolink:NamedThing German syndrome German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl German syndrome UMLS:C0265373|ICD10:Q87.8|Orphanet:2077|MESH:C562543|SCTID:733037000|UMLS:C3887495|OMIM:231080 owl:Class MONDO:0007460 biolink:NamedThing discrimination, Two-point, reduction 1N tmpte7i6ely_mondo_relaxed.owl discrimination, Two-point, reduction type 1N|discrimination, TWO-point, reduction IN|sensory discrimination OMIM:126180 owl:Class MONDO:0008107 biolink:NamedThing nystagmus, hereditary vertical tmpte7i6ely_mondo_relaxed.owl nystagmus, hereditary vertical|congenital hereditary vertical nystagmus|hereditary vertical nystagmus MESH:C537857|UMLS:C1834078|OMIM:164150|GARD:0009604 https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical owl:Class MONDO:0007511 biolink:NamedThing ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type MESH:C565068|GARD:0002055|UMLS:C1851858|SCTID:734018003|OMIM:129510|Orphanet:1818|ICD10:Q82.4 https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type owl:Class HGNC:14867 biolink:NamedThing APOL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020348 biolink:NamedThing acute motor and sensory axonal neuropathy Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS). tmpte7i6ely_mondo_relaxed.owl acute motor-sensory axonal Guillain-Barré syndrome|acute motor-sensory axonal GBS|AMSAN|acute motor-sensory axonal Guillain-BarrC) syndrome|acute motor-sensory axonal neuropathy SCTID:716722005|NCIT:C116927|UMLS:CN207195|Orphanet:98917|ICD10:G61.0 owl:Class NCBITaxon:2683629 biolink:NamedThing Opalozoa tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2683628 biolink:NamedThing Bigyra tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007851 biolink:NamedThing keratoconus 1 Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene. tmpte7i6ely_mondo_relaxed.owl keratoconus (disease) caused by mutation in VSX1|KTCN1|VSX1 keratoconus (disease)|keratoconus 1|keratoconus type 1 OMIM:148300|UMLS:C1835677|MESH:C563649 owl:Class MONDO:0010377 biolink:NamedThing myopia 13, X-linked tmpte7i6ely_mondo_relaxed.owl myopia 13, X-linked|MYP13 MESH:C564473|UMLS:C1845096|OMIM:300613 owl:Class MONDO:0012678 biolink:NamedThing atrial fibrillation, familial, 5 tmpte7i6ely_mondo_relaxed.owl atrial fibrillation, familial, 5|ATFB5 MESH:C566932|OMIM:611494|Orphanet:334|UMLS:C1969099 owl:Class NCBITaxon:562 biolink:NamedThing Escherichia coli tmpte7i6ely_mondo_relaxed.owl E. coli|Enterococcus coli|Bacterium coli commune|Escherichia/Shigella coli|Bacillus coli|Bacterium coli GC_ID:11|PMID:10319482 NCBITaxon:469598|NCBITaxon:662101|NCBITaxon:1637691|NCBITaxon:662104 ncbi_taxonomy owl:Class NCBITaxon:561 biolink:NamedThing Escherichia tmpte7i6ely_mondo_relaxed.owl PMID:19700542|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001405 biolink:NamedThing dermatophytosis of groin and perianal area Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. tmpte7i6ely_mondo_relaxed.owl dermatophytosis of groin & perianal area|dermatophytosis of groin and perianal area|tinea cruris|Dhobie itch DOID:11917|NCIT:C34535|SCTID:399029005|UMLS:C0011638|ICD9:110.3 owl:Class HGNC:6137 biolink:NamedThing ITGA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044309 biolink:NamedThing Diamond-Blackfan anemia 16 tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan anemia 16|DBA16 OMIM:617408|Orphanet:124|UMLS:C4479424 owl:Class MONDO:0001439 biolink:NamedThing episcleritis periodica fugax tmpte7i6ely_mondo_relaxed.owl UMLS:C0155351|DOID:12124|ICD9:379.01|SCTID:31166000|ICD10:H15.11 owl:Class MONDO:0008557 biolink:NamedThing Paris-Trousseau thrombocytopenia Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. tmpte7i6ely_mondo_relaxed.owl thrombocytopenia, Paris-TROUSSEAU type|TCPT|Paris-Trousseau syndrome|thrombocytopenia Paris-Trousseau type|chromosome 11q23 deletion syndrome ICD10:D69.4|GARD:0004224|OMIM:188025|UMLS:C1861178|UMLS:C1956093|Orphanet:851 https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia owl:Class HGNC:6259 biolink:NamedThing KCNJ13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017111 biolink:NamedThing isolated Dandy-Walker malformation without hydrocephalus tmpte7i6ely_mondo_relaxed.owl ICD10:Q03.1|Orphanet:269215 owl:Class MONDO:0010128 biolink:NamedThing thyrocerebrorenal syndrome Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl cutler-Bass-Romshe syndrome|Thyrocerebral-retinal syndrome|THYROCEREBRORETINAL syndrome GARD:0005203|OMIM:274240|MESH:C536908|Orphanet:3327|SCTID:733096007|UMLS:C4518579|UMLS:C1848813 owl:Class HGNC:7095 biolink:NamedThing MID1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013365 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 83 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 83|deafness, autosomal recessive 83|autosomal recessive nonsyndromic deafness type 83|DFNB83|autosomal recessive deafness 83 OMIM:613685|ICD10:H90.3|DOID:0110528 owl:Class MONDO:0004456 biolink:NamedThing cocaine abuse Disorders related or resulting from use of cocaine. tmpte7i6ely_mondo_relaxed.owl DOID:809|SCTID:78267003|ICD10:F14.1|ICD9:305.60|ICD9:305.6 owl:Class MONDO:0003902 biolink:NamedThing brain stem hemangioblastoma A hemangioblastoma that involves the brainstem. tmpte7i6ely_mondo_relaxed.owl angioblastoma of the brainstem|angioblastoma of brainstem|brainstem hemangioblastoma|hemangioblastoma of brain stem|brain stem hemangioblastoma|brainstem angioblastoma|hemangioblastoma of the brainstem|angioblastoma of the brain stem|brain stem angioblastoma|angioblastoma of brain stem|hemangioblastoma of the brain stem|brain stem capillary hemangioblastoma|hemangioblastoma of brainstem DOID:6501|UMLS:C1332611|NCIT:C5147 owl:Class MONDO:0003171 biolink:NamedThing pineal gland astrocytoma A astrocytoma that involves the pineal body. tmpte7i6ely_mondo_relaxed.owl astrocytoma of the pineal gland|pineal astrocytic tumor|pineal body astrocytoma (excluding glioblastoma)|astrocytoma of pineal gland|pineal astrocytoma|astrocytoma (excluding glioblastoma) of pineal body|pineal body astrocytoma UMLS:C0280795|NCIT:C8274|DOID:4858 owl:Class MONDO:0008391 biolink:NamedThing Robinow-Sorauf syndrome tmpte7i6ely_mondo_relaxed.owl acrocephalosyndactyly, Robinow-Sorauf type|Robinow-Sorauf syndrome|craniosynostosis-bifid hallux syndrome UMLS:C1867146|MESH:C537183|Orphanet:3106|OMIM:180750|UMLS:CN203672 owl:Class MONDO:0044624 biolink:NamedThing pediatric collagenous gastritis tmpte7i6ely_mondo_relaxed.owl childhood-onset collagenous gastritis Orphanet:487809 owl:Class MONDO:0015093 biolink:NamedThing sub-cortical nodular heterotopia tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.8|Orphanet:101029 owl:Class MONDO:0016650 biolink:NamedThing paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpte7i6ely_mondo_relaxed.owl UPD(1)pat|paternal uniparental disomy of chromosome type 1 ICD10:Q99.8|SCTID:766719006|Orphanet:251004 owl:Class MONDO:0004540 biolink:NamedThing epithelioid malignant peripheral nerve sheath tumor A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. tmpte7i6ely_mondo_relaxed.owl malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid tumor of peripheral nerve sheath|epithelioid malignant peripheral nerve sheath tumor|malignant epithelioid peripheral nerve sheath tumor|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid neoplasm of the peripheral nerve sheath|epithelioid MPNST|malignant epithelioid peripheral nerve sheath neoplasm EFO:1000245|NCIT:C6561|UMLS:C1321427|DOID:8353|SCTID:404038007 owl:Class HGNC:17996 biolink:NamedThing NAGS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006532 biolink:NamedThing oblique extraocular muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018624 biolink:NamedThing spontaneous intracranial hypotension tmpte7i6ely_mondo_relaxed.owl spontaneous cerebrospinal fluid leak UMLS:CN237665|ICD10:G96.0|Orphanet:443180 owl:Class MONDO:0016468 biolink:NamedThing toxin-mediated infectious botulism Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism). tmpte7i6ely_mondo_relaxed.owl toxin-mediated infective botulism ICD10:A05.1|Orphanet:230800 owl:Class MONDO:0000666 biolink:NamedThing associative visual agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. tmpte7i6ely_mondo_relaxed.owl associative agnosia DOID:0060136 owl:Class MONDO:0006844 biolink:NamedThing magnesium deficiency A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) tmpte7i6ely_mondo_relaxed.owl ICD10:E61.2|UMLS:C0024473|SCTID:238118002|MedDRA:10025433|MESH:D008275|EFO:1001029 owl:Class HGNC:9816 biolink:NamedThing RAD50 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014068 biolink:NamedThing cone-rod dystrophy 17 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy type 17|CORD17|cone-rod dystrophy 17 OMIM:615163|UMLS:C3554610|DOID:0111023 owl:Class MONDO:0015158 biolink:NamedThing unexplained periodic fever syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN197498|ICD10:E85.0|Orphanet:102237 owl:Class MONDO:0006120 biolink:NamedThing C-cell hyperplasia Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). tmpte7i6ely_mondo_relaxed.owl C-cell hyperplasia EFO:1000147|NCIT:C46100|UMLS:C0342190 owl:Class MONDO:0060642 biolink:NamedThing neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features|NEDMAGA OMIM:617865|UMLS:CN800196 owl:Class MONDO:0010351 biolink:NamedThing Fanconi anemia complementation group B Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. tmpte7i6ely_mondo_relaxed.owl Fanconi pancytopenia type 2|Fanconi anemia complementation group type B|Fanconi pancytopenia, type 2|FANCB|Fanconi Anemia, complementation group type B|FACB|FA2|Fanconi anemia, complementation group B|Fanconi anemia complementation group B Orphanet:84|DOID:0111098|UMLS:C1845292|OMIM:300514|MESH:C564497|NCIT:C125703 owl:Class MONDO:0013366 biolink:NamedThing spondylocostal dysostosis 4, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene. tmpte7i6ely_mondo_relaxed.owl HES7 autosomal recessive spondylocostal dysostosis|spondylocostal dysostosis 4, autosomal recessive|autosomal recessive spondylocostal dysostosis caused by mutation in HES7|spondylocostal dysostosis 4|Hes7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in Hes7|SCDO4 OMIM:613686|UMLS:C3150942|GARD:0004976|Orphanet:2311 owl:Class HGNC:343 biolink:NamedThing AHCY tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012708 biolink:NamedThing primary lateral sclerosis, adult, 1 tmpte7i6ely_mondo_relaxed.owl PLSA1|Pls, adult|primary lateral sclerosis, ADULT, 1 OMIM:611637|MESH:C566900|Orphanet:35689 owl:Class MONDO:0014101 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene. tmpte7i6ely_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12|POMK muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK|MDDGA12 OMIM:615249|Orphanet:899|DOID:0111235|UMLS:C3808964 owl:Class MONDO:0004483 biolink:NamedThing thyroid gland oncocytic adenoma A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl oncocytic adenoma of thyroid|thyroid gland follicular adenoma of the oxyphilic cell type|Hurthle cell adenoma|benign oncocytoma of thyroid gland|follicular adenoma of the thyroid gland of the oxyphilic cell type|Hurthle cell adenoma of the thyroid gland|thyroid follicular adenoma of the oxyphilic cell type|thyroid gland oncocytic adenoma|oncocytic adenoma of thyroid gland|benign oncocytoma of the thyroid|oncocytic adenoma of the thyroid gland|Hurthle cell adenoma of thyroid gland|thyroid Hurthle cell adenoma|Hurthle cell adenoma of thyroid|follicular adenoma of thyroid gland of oxyphilic cell type|thyroid oncocytic adenoma|benign thyroid oncocytoma|follicular adenoma of the thyroid of the oxyphilic cell type|thyroid gland Hurthle cell adenoma|OAT|thyroid gland follicular adenoma of oxyphilic cell type|benign oncocytoma of thyroid|Hurthle cell adenoma of the thyroid|thyroid follicular adenoma of oxyphilic cell type|benign oncocytoma of the thyroid gland|follicular adenoma of thyroid of oxyphilic cell type|oncocytic adenoma of the thyroid|benign thyroid gland oncocytoma NCIT:C6042|DOID:8162|ONCOTREE:OAT|UMLS:C1336750 owl:Class MONDO:0032592 biolink:NamedThing cardiomyopathy, dilated, 2c tmpte7i6ely_mondo_relaxed.owl CMD2C|CARDIOMYOPATHY, DILATED, 2C OMIM:618189 owl:Class MONDO:0010076 biolink:NamedThing spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. tmpte7i6ely_mondo_relaxed.owl SEMD, Irapa type|spondyloepimetaphyseal dysplasia, Irapa type|SEMDIT UMLS:C0432213|MESH:C562958|OMIM:271650|ICD10:Q77.7|Orphanet:93351|SCTID:717330004 owl:Class PATO:0010001 biolink:NamedThing disconnected A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6188 biolink:NamedThing JAG1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001505 biolink:NamedThing regulation of neurotransmitter levels Any process that modulates levels of neurotransmitter. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008586 biolink:NamedThing esophageal atresia/tracheoesophageal fistula Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. tmpte7i6ely_mondo_relaxed.owl tracheoesophageal fistula with or without esophageal atresia|esophageal atresia and/or tracheoesophageal fistula|TEF|tracheoesophageal fistula with or without esohageal atresia|esophageal atresia with or without tracheoesophageal fistula|tracheoesophageal fistula|te fistula GARD:0007792|MedDRA:10021530|OMIM:189960|MESH:C531835|DOID:0080171|Orphanet:1199|ICD10:Q39.0|ICD10:Q39.1|MedDRA:10030146|SCTID:95435007 owl:Class ENVO:01001366 biolink:NamedThing aerosolised particle formation process A process during which particles suspended in a gaseous medium are formed. tmpte7i6ely_mondo_relaxed.owl new particle formation process owl:Class MONDO:0005139 biolink:NamedThing morbid obesity An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. tmpte7i6ely_mondo_relaxed.owl severe obesity SCTID:83911000119104|NIFSTD:nlx_dys_20090303|NCIT:C34858|UMLS:C0028756|ICD9:278.01|MESH:D009767|EFO:0001074|DOID:11981 owl:Class UBERON:0005032 biolink:NamedThing mucosa of lower lip tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036294 biolink:NamedThing mucosa of lip tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009821 biolink:NamedThing lethal osteosclerotic bone dysplasia Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. tmpte7i6ely_mondo_relaxed.owl combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis|osteosclerotic bone dysplasia, lethal|RAINE syndrome|Raine syndrome|RNS|lethal osteosclerotic bone dysplasia MESH:C535282|UMLS:C1850106|OMIM:259775|Orphanet:1832|GARD:0000282|ICD10:Q78.2 owl:Class MONDO:0019633 biolink:NamedThing relapsing fever Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. tmpte7i6ely_mondo_relaxed.owl ICD9:087.9|ICD10:A68.9|ICD10:A68|Orphanet:91547|SCTID:420079008|MESH:D012061|ICD10:A68.1|ICD10:A68.0|DOID:13034|UMLS:C0035021|MedDRA:10038300|ICD9:087 owl:Class MONDO:0030330 biolink:NamedThing cardiomyopathy, familial restrictive, 6 tmpte7i6ely_mondo_relaxed.owl RCM6|cardiomyopathy, familial restrictive, 6 OMIM:619433 owl:Class MONDO:0019845 biolink:NamedThing iatrogenic or traumatic pituitary deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:E23.1|Orphanet:95619 owl:Class MONDO:0012569 biolink:NamedThing mitral valve prolapse, myxomatous 3 tmpte7i6ely_mondo_relaxed.owl MVP3|mitral valve prolapse, myxomatous 3|MMVP3|mitral valve prolapse 3|myxomatous mitral valve prolapse 3 UMLS:C1835814|OMIM:610840|MESH:C563655 owl:Class GO:0045778 biolink:NamedThing positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpte7i6ely_mondo_relaxed.owl up regulation of ossification|upregulation of ossification|positive regulation of bone formation|activation of ossification|stimulation of ossification|positive regulation of bone biosynthesis|up-regulation of ossification owl:Class GO:0015067 biolink:NamedThing amidinotransferase activity Catalysis of the reversible transfer of an amidino group to an acceptor. tmpte7i6ely_mondo_relaxed.owl transamidinase activity owl:Class MONDO:0005925 biolink:NamedThing pneumonic pasteurellosis Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal. tmpte7i6ely_mondo_relaxed.owl UMLS:C0036969|MESH:D012766|EFO:0007449 owl:Class MONDO:0020773 biolink:NamedThing cerebrospinal fluid rhinorrhea Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) tmpte7i6ely_mondo_relaxed.owl Cerebrospinal Fluid Rhinorrheas|Traumatic Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal Fluid|cerebrospinal rhinorrhea|post Traumatic Rhinorrhea, Cerebrospinal Fluid|Spontaneous Cerebrospinal Fluid Rhinorrhea|CSF Rhinorrheas|post-Traumatic Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|CSF Rhinorrhea|Cerebrospinal fluid rhinorrhea|Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|cerebrospinal fluid rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrhea, post-Traumatic|Cerebrospinal Fluid Rhinorrhea, Traumatic|Rhinorrhea, CSF|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Spontaneous Rhinorrhea, Cerebrospinal Fluid|csf - cerebrospinal rhinorrhea|Rhinorrheas, Cerebrospinal|Cerebrospinal fluid rhinorrhoea|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|CSF - Cerebrospinal rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|Cerebrospinal Fluid Rhinorrhea, post Traumatic|Cerebrospinal Rhinorrheas|Cerebrospinal Rhinorrhea|CSF rhinorrhoea|Rhinorrheas, Cerebrospinal Fluid|Rhinorrheas, CSF|post Traumatic Cerebrospinal Fluid Rhinorrhea GTR:AN1355639|HP:0030998|GTR:AN1353832|NCIT:C84627|UMLS:C0007815|SCTID:85638002|MESH:D002559|ICD9:349.81 owl:Class MONDO:0043327 biolink:NamedThing cerebrospinal fluid leak Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA). tmpte7i6ely_mondo_relaxed.owl cerebrospinal fluid drainage, spontaneous|cerebrospinal fluid leak, spontaneous|spinal cerebrospinal fluid leak, post-traumatic|fluid Leakages, cerebrospinal|cerebrospinal fluid Drainages|csf - cerebrospinal fluid leak|cerebrospinal fluid drainage, post-traumatic|Drainages, cerebrospinal fluid|spinal cerebrospinal fluid leak|cerebrospinal fluid Leakages|Leakages, cerebrospinal fluid|cerebrospinal fluid Leaks|spinal CSF leak|fluid leakage, cerebrospinal|fluid drainage, cerebrospinal|cerebrospinal fluid drainage, traumatic|cerebrospinal fluid leakage|fluid Leaks, cerebrospinal|cerebrospinal fluid leakage, post-traumatic|fluid leak, cerebrospinal|cerebrospinal fluid leakage, spontaneous|cerebrospinal fluid leak|drainage, cerebrospinal fluid|spinal cerebrospinal fluid leak, traumatic|leakage, cerebrospinal fluid|cerebrospinal fluid drainage, post traumatic|cerebrospinal fluid leakage, traumatic|spinal cerebrospinal fluid leak, spontaneous|CSF leak|cerebrospinal fluid leak, traumatic|CSF rhinorrhea|cerebrospinal fluid drainage|CSF otorrhea|leak, cerebrospinal fluid|cerebrospinal fluid leak, post-traumatic|Leaks, cerebrospinal fluid|spinal cerebrospinal fluid leak, post traumatic|cerebrospinal fluid leak, post traumatic|cerebrospinal fluid leakage, post traumatic|fluid Drainages, cerebrospinal GARD:0010166|MESH:D065634|SCTID:230744007 owl:Class MONDO:0016493 biolink:NamedThing variant of Guillain-Barre syndrome tmpte7i6ely_mondo_relaxed.owl variant of Guillain-Barré syndrome|variant of GBS ICD10:G61.0|UMLS:CN201495|Orphanet:231413 owl:Class MONDO:0015308 biolink:NamedThing laminopathy type Decaudain-Vigouroux Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. tmpte7i6ely_mondo_relaxed.owl laminopathy with severe metabolic syndrome and myopathy ICD10:E88.8|UMLS:C4518324|Orphanet:137871|SCTID:724205009 owl:Class MONDO:0016501 biolink:NamedThing Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. tmpte7i6ely_mondo_relaxed.owl HPS with pulmonary fibrosis OMIM:203300|OMIM:614073|UMLS:CN201506|ICD10:E70.3|Orphanet:231500 owl:Class NCBITaxon:27829 biolink:NamedThing Strongyloidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002791 biolink:NamedThing large cell medulloblastoma A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma. tmpte7i6ely_mondo_relaxed.owl large cell medulloblastoma|large cell medulloblastoma (morphologic abnormality) EFO:0008508|DOID:3857|ICDO:9474/3|UMLS:C1266180|NCIT:C6904 owl:Class MONDO:0023100 biolink:NamedThing facial clefting corpus callosum agenesis tmpte7i6ely_mondo_relaxed.owl GARD:0002220 https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis owl:Class HGNC:2610 biolink:NamedThing CYP2A6 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:26082 biolink:NamedThing phosphorus molecular entity tmpte7i6ely_mondo_relaxed.owl phosphorus molecular entities owl:Class MONDO:0015496 biolink:NamedThing macroglossia The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) tmpte7i6ely_mondo_relaxed.owl giant tongue|enlarged tongue MESH:D008260|MESH:C531735|ICD10:Q38.2|UMLS:C0024421|Orphanet:156207|GARD:0003342|MedDRA:10025391 owl:Class MONDO:0016479 biolink:NamedThing silver-Russell syndrome due to 7p11.2p13 microduplication tmpte7i6ely_mondo_relaxed.owl Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to trisomy 7p11.2p13|Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to dup(7)(p11.2p13) ICD10:Q87.1|Orphanet:231137|UMLS:CN201474 owl:Class NCBITaxon:33634 biolink:NamedThing Stramenopiles tmpte7i6ely_mondo_relaxed.owl Chromophyta|heterokonts|Heterokonta|Straminipila GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004728 biolink:NamedThing diabetic macular edema tmpte7i6ely_mondo_relaxed.owl SCTID:312912001|UMLS:C0730285|ICD9:362.07|DOID:9191 owl:Class MONDO:0060611 biolink:NamedThing combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia tmpte7i6ely_mondo_relaxed.owl CIMAH|combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia|methylenetetrahydrofolate dehydrogenase 1 deficiency OMIM:617780|UMLS:C4540434 owl:Class MONDO:0009519 biolink:NamedThing letterer-Siwe disease A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. tmpte7i6ely_mondo_relaxed.owl acute and disseminated Langerhans cell histiocytosis|letterer-Siwe disease|histiocytosis X, acute disseminated|acute disseminated Langerhans cell histiocytosis|multifocal multisystem Langerhans cell histiocytosis|L-S disease Orphanet:99870|OMIM:246400|NCIT:C3160|ICD10:C96.0|ICDO:9754/3|UMLS:C0023381|MedDRA:10024265 owl:Class NCBITaxon:34384 biolink:NamedThing Arthrodermataceae tmpte7i6ely_mondo_relaxed.owl Arthrodermataceae anamorphs|dermatophytes|anamorphic Arthrodermataceae GC_ID:1 NCBITaxon:34385 ncbi_taxonomy owl:Class MONDO:0009977 biolink:NamedThing Knobloch syndrome Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele. tmpte7i6ely_mondo_relaxed.owl Knobloch syndrome type 1|KNOBLOCH syndrome 1|Kno|myopia retinal detachment encephalocele|KNO1|retinal detachment-occipital encephalocele syndrome|Knobloch-Layer syndrome|retinal detachment and occipital encephalocele UMLS:C1849409|ICD9:759.89|SCTID:703542000|Orphanet:1571|OMIM:267750|MESH:C537209|GARD:0000380|ICD10:Q15.8 https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome owl:Class MONDO:0010649 biolink:NamedThing isolated congenital megalocornea Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. tmpte7i6ely_mondo_relaxed.owl MGC1|congenital anterior megalophthalmia|Mgcn|isolated congenital megalocornea|megalocornea ICD10:Q15.8|OMIM:309300|SCTID:734026006|GARD:0012648|Orphanet:91489 owl:Class MONDO:0014931 biolink:NamedThing Alazami-Yuan syndrome tmpte7i6ely_mondo_relaxed.owl ALYUS|Alazami-Yuan syndrome|Alazami-Yuan syndrome; ALYUS UMLS:C4310702|OMIM:617126 owl:Class MONDO:0024971 biolink:NamedThing parturient paresis A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes. tmpte7i6ely_mondo_relaxed.owl parturient Pareses|paresis, parturient|Pareses, parturient|animal milk fever|fever, animal milk|milk fever, animal UMLS:C0030612|MESH:D010319|SCTID:405256006 owl:Class MONDO:0001585 biolink:NamedThing hallucinogen abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. tmpte7i6ely_mondo_relaxed.owl DOID:12797|SCTID:74851005|ICD10:F16.1|ICD9:305.3 owl:Class MONDO:0011856 biolink:NamedThing spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl SmD with with bowed forearms and facial dysmorphism|SmD with bowed forearms and Facial Dysmorphism|spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543|Orphanet:168552|ICD10:Q77.8|UMLS:C1843706|GARD:0008719|MESH:C535791 owl:Class MONDO:0012726 biolink:NamedThing autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. tmpte7i6ely_mondo_relaxed.owl hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome|HANAC syndrome|HANAC|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ICD10:I99|GARD:0010889|MESH:C567088|UMLS:C2673195|ICD9:758.89|SCTID:702428000|OMIM:611773|Orphanet:73229 owl:Class MONDO:0020381 biolink:NamedThing patterned macular dystrophy A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. tmpte7i6ely_mondo_relaxed.owl macular dystrophy, patterned|patterned dystrophy of retinal pigment epithelium UMLS:CN207254|UMLS:C4511237|SCTID:725590001|OMIM:610125|ICD10:H35.5|OMIMPS:169150|DOID:0060863|OMIM:169150|OMIM:608970 https://github.com/monarch-initiative/mondo/issues/1819 owl:Class CHEBI:60164 biolink:NamedThing ionic polymer An ionic polymer is a polymer, composed of ionic macromolecules. tmpte7i6ely_mondo_relaxed.owl polyionic polymer owl:Class MONDO:0019377 biolink:NamedThing Mycoplasma encephalitis Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). tmpte7i6ely_mondo_relaxed.owl Mycoplasma pneumoniae caused infectious encephalitis|Mycoplasma pneumoniae infectious encephalitis ICD10:B96.0|Orphanet:83482 owl:Class MONDO:0004238 biolink:NamedThing petrous apex meningioma A meningioma that affects the petrous apex. tmpte7i6ely_mondo_relaxed.owl meningioma of the petrous ridge|petrous ridge meningioma|meningioma of the petrous apex|meningioma of petrous apex|meningioma of petrous ridge UMLS:C1335396|DOID:7482|NCIT:C5271 owl:Class MONDO:0016989 biolink:NamedThing Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. tmpte7i6ely_mondo_relaxed.owl Fuchs heterochromic cyclitis|FHI|Fuchs heterochromic uveitis MedDRA:10017406|GARD:0006791|Orphanet:263479|ICD10:H20.8 owl:Class MONDO:0002809 biolink:NamedThing pancreatic cystadenoma A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. tmpte7i6ely_mondo_relaxed.owl cystadenoma of pancreas|cystadenoma of the pancreas|pancreatic cystadenoma|exocrine pancreas cystadenoma UMLS:C0341486|NCIT:C4374|SCTID:235967003|DOID:3918 owl:Class MONDO:0022912 biolink:NamedThing cutis verticis gyrata mental deficiency tmpte7i6ely_mondo_relaxed.owl GARD:0001644 https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency owl:Class MONDO:0012054 biolink:NamedThing schizophrenia 12 A schizophrenia that has material basis in a mutation on chromosome 1p36.2. tmpte7i6ely_mondo_relaxed.owl SCZD12|schizophrenia susceptibility locus, chromosome 1P-related|schizophrenia type 12|Sczd12|schizophrenia 12 OMIM:608543|UMLS:C1837893|DOID:0070088 owl:Class HGNC:12823 biolink:NamedThing XPNPEP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030936 biolink:NamedThing epilepsy, progressive myoclonic, 12 tmpte7i6ely_mondo_relaxed.owl EPM12|epilepsy, progressive myoclonic, 12 OMIM:619191 owl:Class UBERON:0007521 biolink:NamedThing smooth muscle sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03411328 biolink:NamedThing goat tmpte7i6ely_mondo_relaxed.owl caprine|Capra hircus Linnaeus, 1758 owl:Class MONDO:0019650 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with minimal change tmpte7i6ely_mondo_relaxed.owl steroid-sensitive MCNS ICD10:N04.0|Orphanet:93207|UMLS:CN206522 owl:Class MONDO:0004732 biolink:NamedThing kidney carcinoma in situ A carcinoma in situ involving a kidney. tmpte7i6ely_mondo_relaxed.owl stage 0 kidney carcinoma|kidney in situ carcinoma|carcinoma in situ of kidney DOID:9234|SCTID:92624000|UMLS:C0686172|ICD9:233.9|ICD10:D09.1 owl:Class HGNC:2606 biolink:NamedThing CYP27B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016431 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. tmpte7i6ely_mondo_relaxed.owl CMT2M OMIM:606482|UMLS:C4304672|UMLS:CN201389|SCTID:719514002|Orphanet:228179|ICD10:G60.0 owl:Class HP:0002047 biolink:NamedThing Malignant hyperthermia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. tmpte7i6ely_mondo_relaxed.owl Malignant hyperthermia with anesthesia|Malignant hyperthermia with anaesthesia SNOMEDCT_US:405501007|SNOMEDCT_US:213026003|MSH:D008305|UMLS:C0024591 HP:0004896 human_phenotype owl:Class MONDO:0009248 biolink:NamedThing fructose and galactose intolerance tmpte7i6ely_mondo_relaxed.owl fructose and galactose intolerance UMLS:C1856686|OMIM:229500|MESH:C565558 owl:Class MONDO:0004856 biolink:NamedThing rosacea conjunctivitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0155152|ICD9:372.31|DOID:9709|SCTID:10128002 owl:Class MONDO:0023102 biolink:NamedThing facio skeletal genital syndrome rippberger type tmpte7i6ely_mondo_relaxed.owl Ripperger Aase syndrome GARD:0002227 https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type owl:Class MONDO:0006842 biolink:NamedThing lymphangiomyoma A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum. tmpte7i6ely_mondo_relaxed.owl lymphangioleiomyoma|lymphangiomyoma EFO:1001027|NCIT:C3204|UMLS:C0024223|MESH:D008203|ICDO:9174/0 owl:Class NCBITaxon:1351 biolink:NamedThing Enterococcus faecalis tmpte7i6ely_mondo_relaxed.owl Streptococcus glycerinaceus|Streptococcus liquefaciens|Enterocoque|Micrococcus zymogenes|Streptococcus faecalis|Enterococcus proteiformis|Micrococcus ovalis GC_ID:11 NCBITaxon:1796631|NCBITaxon:657310|NCBITaxon:1219670 ncbi_taxonomy owl:Class NCBITaxon:1350 biolink:NamedThing Enterococcus tmpte7i6ely_mondo_relaxed.owl PMID:8427810|PMID:9103648|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032876 biolink:NamedThing neurodevelopmental disorder with absent language and variable seizures tmpte7i6ely_mondo_relaxed.owl NEDALVS|Ito-Raymond Syndrome|NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES OMIM:618707 owl:Class MONDO:0002770 biolink:NamedThing vaginal discharge Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. tmpte7i6ely_mondo_relaxed.owl Discharge, vaginal MESH:D019522|DOID:3767|NCIT:C50795 owl:Class MONDO:0009420 biolink:NamedThing primary hypergonadotropic hypogonadism-partial alopecia syndrome This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. tmpte7i6ely_mondo_relaxed.owl hypergonadotropic hypogonadism and partial alopecia|Al Awadi-Farag-Teebi syndrome ICD10:E28.3|Orphanet:2232|MESH:C567109|OMIM:241090|ICD10:E29.1|SCTID:719275009 owl:Class MONDO:0033533 biolink:NamedThing combined oxidative phosphorylation deficiency 45 tmpte7i6ely_mondo_relaxed.owl COXPD45|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 OMIM:618951 owl:Class MONDO:0016626 biolink:NamedThing hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl 2022-05-01 Orphanet:248305|ICD10:D55.2 Reason: out of scope. Obsoleted in Orphanet. Term to consider: None owl:Class MONDO:0011898 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive tmpte7i6ely_mondo_relaxed.owl CMT2 with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, type 4A, axonal form UMLS:C1843183|Orphanet:101097|OMIM:607706 owl:Class HGNC:1037 biolink:NamedThing CFB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903283 biolink:NamedThing negative regulation of glutathione peroxidase activity Any process that stops, prevents or reduces the frequency, rate or extent of glutathione peroxidase activity. tmpte7i6ely_mondo_relaxed.owl down regulation of reduced glutathione peroxidase activity|negative regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of non-selenium glutathione peroxidase activity|inhibition of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down regulation of GSH peroxidase activity|downregulation of glutathione:hydrogen-peroxide oxidoreductase activity|inhibition of selenium-glutathione peroxidase activity|down regulation of selenium-glutathione peroxidase activity|inhibition of glutathione peroxidase activity|down regulation of glutathione peroxidase activity|downregulation of non-selenium glutathione peroxidase activity|downregulation of glutathione peroxidase activity|inhibition of reduced glutathione peroxidase activity|downregulation of reduced glutathione peroxidase activity|down regulation of glutathione:hydrogen-peroxide oxidoreductase activity|downregulation of GSH peroxidase activity|down-regulation of GSH peroxidase activity|down-regulation of glutathione peroxidase activity|negative regulation of non-selenium glutathione peroxidase activity|down regulation of non-selenium glutathione peroxidase activity|negative regulation of reduced glutathione peroxidase activity|down-regulation of selenium-glutathione peroxidase activity|inhibition of non-selenium glutathione peroxidase activity|inhibition of GSH peroxidase activity|down-regulation of reduced glutathione peroxidase activity|negative regulation of GSH peroxidase activity|negative regulation of selenium-glutathione peroxidase activity|downregulation of selenium-glutathione peroxidase activity owl:Class MONDO:0100379 biolink:NamedThing acute myeloid leukemia, t(1;11)(q21;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(1;11)(q21;q23) NCIT:C168759 owl:Class MONDO:0013710 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 5 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. tmpte7i6ely_mondo_relaxed.owl hereditary nonpolyposis colon cancer caused by mutation in MSH6|colorectal cancer, hereditary nonpolyposis, type 5|MSH6 hereditary nonpolyposis colon cancer|HNPCC5 OMIM:614350|UMLS:C1833477|MESH:C563456|DOID:0070272|Orphanet:144 owl:Class MONDO:0043735 biolink:NamedThing osteoradionecrosis Necrosis of bone following radiation injury. tmpte7i6ely_mondo_relaxed.owl radiation necrosis of bone|Osteoradionecroses|osteoradionecrosis NCIT:C63707|MESH:D010025|SCTID:109333005 owl:Class NCBITaxon:120793 biolink:NamedThing Mycobacterium avium complex (MAC) tmpte7i6ely_mondo_relaxed.owl MAC PMID:1581195|PMID:9103630|PMID:30231956|PMID:8347508|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011303 biolink:NamedThing focal segmental glomerulosclerosis 1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. tmpte7i6ely_mondo_relaxed.owl FSGS1|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 1|glomerulosclerosis, focal segmental, 1|ACTN4 focal segmental glomerulosclerosis|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis|focal segmental glomerulosclerosis type 1|focal segmental glomerulosclerosis caused by mutation in ACTN4 ICD10:N04.1|Orphanet:93213|DOID:0111128|OMIM:603278|MESH:C538457 owl:Class NCBITaxon:43742 biolink:NamedThing Calyptratae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009918 biolink:NamedThing fundus dystrophy, pseudoinflammatory, recessive form tmpte7i6ely_mondo_relaxed.owl Pfd, Lavia type|fundus dystrophy, pseudoinflammatory recessive form|PFD Lavia type|Pfd, Finnish type|fundus dystrophy, pseudoinflammatory, recessive form|pseudoinflammatory fundus dystrophy UMLS:C1849694|Orphanet:59181|OMIM:264420|MESH:C535828|GARD:0009633 owl:Class GO:0030203 biolink:NamedThing glycosaminoglycan metabolic process The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties. tmpte7i6ely_mondo_relaxed.owl glycosaminoglycan metabolism owl:Class GO:0007034 biolink:NamedThing vacuolar transport The directed movement of substances into, out of or within a vacuole. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018895 biolink:NamedThing Plummer-Vinson syndrome Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. tmpte7i6ely_mondo_relaxed.owl Kelly-Paterson syndrome|Sideropenic dysphagia|Paterson-Kelly syndrome|Paterson’s syndrome|Plummer Vinson syndrome|Paterson-Brown-Kelly syndrome|dysphagia sideropenica|Paterson's syndrome|Kelly's syndrome NCIT:C85016|MedDRA:10040664|UMLS:C0032249|ICD9:280.8|MESH:D011004|Orphanet:54028|ICD10:D50.1|SCTID:80126007|GARD:0008259 https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome owl:Class ENVO:01001286 biolink:NamedThing slate dust Dust which is primarily composed of slate particles. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018118 biolink:NamedThing right renal cortex interstitium tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:22691 biolink:NamedThing barbiturate anion tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000275 biolink:NamedThing Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). tmpte7i6ely_mondo_relaxed.owl Transverse insufficiency of face|Decreased width of face|Horizontal deficiency of face|Narrow face|Thin facies|Horizontal hypoplasia of face|Transverse deficiency of face|Horizontal insufficiency of face|Decreased horizontal dimension of face|Thin face|Decreased breadth of face|Narrow facies|Decreased transverse dimension of face|Transverse hypoplasia of face UMLS:C1837463|UMLS:C1849121 Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. HP:0000318 human_phenotype owl:Class HP:0000274 biolink:NamedThing Small face A face that is short (HP:0011219) and narrow (HP:0000275). tmpte7i6ely_mondo_relaxed.owl Microfacies|Hypoplasia of face|Small face|Small facies|Short and narrow face|Facial hypoplasia|Microface UMLS:C1855538 This term represents a combination of two terms, short face and narrow face. human_phenotype owl:Class UBERON:0005015 biolink:NamedThing mucosa of prostatic urethra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008989 biolink:NamedThing citrulline transport defect tmpte7i6ely_mondo_relaxed.owl citrulline transport defect MESH:C536207|UMLS:C1859084|GARD:0009949|OMIM:215720 https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect owl:Class MONDO:0000703 biolink:NamedThing collagenous colitis A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. tmpte7i6ely_mondo_relaxed.owl EFO:1001293|ICD9:558.9|SCTID:19311003|ICD10:K52.831|MESH:D046729|UMLS:C0238067|Orphanet:36205|DOID:0060183|NCIT:C27021|GARD:0006135|MedDRA:10048928|ICD10:K52.89 https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis owl:Class MONDO:0032865 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 tmpte7i6ely_mondo_relaxed.owl PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5|PFBMFT5 OMIM:618674 owl:Class HP:0010719 biolink:NamedThing Abnormality of hair texture An abnormality of the texture of the hair. tmpte7i6ely_mondo_relaxed.owl Abnormality of hair texture|Abnormality of hair volume|Abnormality of hair curl pattern|Abnormality of hair consistency UMLS:C4072881|UMLS:C4023722|UMLS:C4072880|UMLS:C4073290 sdoelken 2010-04-20T09:41:53Z HP:0002295|HP:0003776 human_phenotype owl:Class MONDO:0006864 biolink:NamedThing necrotizing sialometaplasia A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. tmpte7i6ely_mondo_relaxed.owl ICD10:K11.8|SCTID:109769000|EFO:1001057|DOID:12901|ICD9:527.8|UMLS:C0037033|MESH:D012797|MedDRA:10072176 owl:Class MONDO:0020792 biolink:NamedThing dwarfism with tall vertebrae tmpte7i6ely_mondo_relaxed.owl OMIM:126950 owl:Class MONDO:0011607 biolink:NamedThing narcolepsy 2, susceptibility to tmpte7i6ely_mondo_relaxed.owl narcolepsy 2, susceptibility to|NRCLP2 Orphanet:2073|OMIM:605841|UMLS:C1853901 owl:Class MONDO:0003530 biolink:NamedThing aggressive digital papillary adenocarcinoma tmpte7i6ely_mondo_relaxed.owl DOID:5590|ONCOTREE:ADPA owl:Class MONDO:0044789 biolink:NamedThing digital papillary eccrine carcinoma An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs. tmpte7i6ely_mondo_relaxed.owl digit papillary eccrine carcinoma|digital papillary carcinoma of skin|digital papillary carcinoma|papillary eccrine carcinoma of digit|digital papillary eccrine carcinoma|papillary digital eccrine carcinoma NCIT:C27534 owl:Class MONDO:0022551 biolink:NamedThing Basedow's coma A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor. tmpte7i6ely_mondo_relaxed.owl Karl Adolph von Basedow|Coma basedovicum GARD:0008177 https://rarediseases.info.nih.gov/diseases/8177/basedows-coma owl:Class MONDO:0008294 biolink:NamedThing acute intermittent porphyria Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. tmpte7i6ely_mondo_relaxed.owl porphobilinogen deaminase deficiency|porphyria, acute intermittent|hydroxymethylbilane synthase deficiency|HMBS deficiency|porphyria intermittent acute|porphyria, acute intermittent, Nonerythroid variant|UPS deficiency|pyrroloporphyria|AIP - acute intermittent porphyria|porphyria, Swedish type|porphyria, Chester type|PBGD deficiency|uroporphyrinogen synthase deficiency|acute intermittent porphyria|AIP OMIM:176000|NCIT:C84536|Orphanet:79276|ICD10:E80.2|MESH:D017118|DOID:3890|UMLS:C0162565|GARD:0005732|SCTID:234422006 owl:Class MONDO:0033572 biolink:NamedThing intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies tmpte7i6ely_mondo_relaxed.owl IDDEBF|INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES OMIM:619031 owl:Class MONDO:0020533 biolink:NamedThing streptobacillary rat-bite fever Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats. tmpte7i6ely_mondo_relaxed.owl Streptobacillary fever|streptobacillary rat-bite fever|Haverhill fever|Streptobacillosis SCTID:52138004|UMLS:CN207435|DOID:13238|ICD10:A25.1|UMLS:C0152063|Orphanet:99905|ICD9:026.1 owl:Class HGNC:11120 biolink:NamedThing SMPD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005262 biolink:NamedThing central nervous system cyst A congenital or acquired cyst that is present in the central nervous system. tmpte7i6ely_mondo_relaxed.owl Rathke's cleft cysts|cyst of Central nervous system|cyst, suprasellar|suprasellar cysts|CNS cyst|cyst of the Central nervous system|cyst of the CNS|cysts, suprasellar|Rathkes cleft cysts|suprasellar cyst|cysts, Rathke cleft|cysts, central nervous system|Rathke cleft cysts|central nervous system cyst|cleft cysts, Rathke's|central nervous system cyst (disease)|cyst of CNS central nervous system cyst (disease) EFO:0003760|MESH:D020863|HP:0030724|SCTID:277333006|NCIT:C4657|UMLS:C0349606 owl:Class MONDO:0044917 biolink:NamedThing T-lymphoblastic lymphoma The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl precursor T-cell Lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma|Precur. T-lymphoblastic lymphoma|T-lymphoblastic lymphoma|T Lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma|T-Lymphoblastic lymphoma|precursor T-lymphoblastic lymphoma SCTID:421246008|EFO:1001830|NCIT:C6919 owl:Class MONDO:0017607 biolink:NamedThing caudal regression sequence Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. tmpte7i6ely_mondo_relaxed.owl caudal dysplasia|sacral regression syndrome|sacral agenesis syndrome OMIM:600145|ICD10:Q76.0|MedDRA:10054842|Orphanet:3027|UMLS:C1867774|MedDRA:10059387|MedDRA:10068896|GARD:0006007|UMLS:C1838568|NCIT:C124505 owl:Class CL:0000467 biolink:NamedThing adrenocorticotropic hormone secreting cell A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin. tmpte7i6ely_mondo_relaxed.owl ACTH secreting cell|corticotrophin hormone secreting cell|adrenocorticotrophic hormone secreting cell|corticotropin hormone secreting cell|corticotropin secreting cell CL:0000640 cell owl:Class MONDO:0011696 biolink:NamedThing melanoma, uveal, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl melanoma, uveal, susceptibility to, 2|UVM2|melanoma, uveal, susceptibility to, type 2 OMIM:606661|Orphanet:39044 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0007966 biolink:NamedThing susceptibility to uveal melanoma tmpte7i6ely_mondo_relaxed.owl Orphanet:39044|UMLS:C0220633 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0019659 biolink:NamedThing Pfeiffer syndrome type 1 Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. tmpte7i6ely_mondo_relaxed.owl classic Pfeiffer syndrome|Pfeiffer syndrome type 1 UMLS:CN206533|Orphanet:93258|ICD10:Q87.0 owl:Class MONDO:0014885 biolink:NamedThing Hermansky-Pudlak syndrome 10 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. tmpte7i6ely_mondo_relaxed.owl AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 10|Hermansky-Pudlak syndrome 10; HPS10|HPS10|Hermansky-Pudlak syndrome caused by mutation in AP3D1|Hermansky-Pudlak syndrome 10 UMLS:C4310746|OMIM:617050 owl:Class MONDO:0033015 biolink:NamedThing erythrokeratodermia variabilis et progressiva 5 tmpte7i6ely_mondo_relaxed.owl EKVP5|erythrokeratodermia variabilis ET progressiva 5 DOID:0080251|Orphanet:316|OMIM:617526|OMIM:617756 owl:Class MONDO:0014448 biolink:NamedThing hyperthyroxinemia, familial dysalbuminemic An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. tmpte7i6ely_mondo_relaxed.owl FDAH|euthyroid hyperthyroxinemia 1|FDH|bisalbuminemia|familial Dysalbuminemic hyperthyroxinemia|familial Dysalbuminemic hyperthyroidism|hyperthyroxinemia, familial Dysalbuminemic|hyperthyroxinemia, familial dysalbuminemic Orphanet:276271|SCTID:237547004|MESH:D050010|NCIT:C131813|OMIM:615999 owl:Class MONDO:0013120 biolink:NamedThing 46,XY sex reversal 5 tmpte7i6ely_mondo_relaxed.owl SRXY5|Sex reversal, XY, Cbx2-related|46,XY SEX reversal 5|46,XY gonadal dysgenesis, complete, Cbx2-related|46,XY Sex reversal type 5|46,XY Sex reversal, Cbx2-related|disorder of Sex development, 46,XY, Cbx2-related|46,XY sex reversal 5 MESH:C567766|Orphanet:242|OMIM:613080|DOID:0111776|UMLS:C2751317 owl:Class CHEBI:37838 biolink:NamedThing carboacyl group A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. tmpte7i6ely_mondo_relaxed.owl carboxylic acyl groups|carboacyl groups|carboxylic acyl group owl:Class CHEBI:22221 biolink:NamedThing acyl group An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. tmpte7i6ely_mondo_relaxed.owl alkanoyl|alkanoyl group|acyl group|acyl groups|groupe acyle owl:Class MONDO:0013793 biolink:NamedThing encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency tmpte7i6ely_mondo_relaxed.owl encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency OMIM:614520|UMLS:C3281106 owl:Class NCIT:C49165 biolink:NamedThing Surgical Procedure by Method tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014449 biolink:NamedThing congenital analbuminemia Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). tmpte7i6ely_mondo_relaxed.owl ANALBA|analbuminemia ICD10:R77.0|Orphanet:86816|OMIM:616000|SCTID:718721006|UMLS:C4305253|GARD:0013056|NCIT:C124851 https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia owl:Class MONDO:0013003 biolink:NamedThing isolated congenital hypoglossia/aglossia Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS). tmpte7i6ely_mondo_relaxed.owl hypoglossia with situs inversus|hypoglossia, isolated OMIM:612776|Orphanet:141152|UMLS:C2748587|ICD10:Q38.3 owl:Class MONDO:0100424 biolink:NamedThing acute myeloid leukemia, NRAS gene mutation Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.) tmpte7i6ely_mondo_relaxed.owl AML, NRAS gene mutation|AML, N-RAS Gene Mutation|AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation NCIT:C41381 owl:Class HP:0002624 biolink:NamedThing Abnormal venous morphology An anomaly of vein. tmpte7i6ely_mondo_relaxed.owl Abnormal vein|Venous abnormality UMLS:C0241665 human_phenotype owl:Class NCBITaxon:85552 biolink:NamedThing Scylla paramamosain tmpte7i6ely_mondo_relaxed.owl green mud crab GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005957 biolink:NamedThing setariasis Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. tmpte7i6ely_mondo_relaxed.owl Setaria infectious disease|Setaria disease or disorder|infectious disease by Setaria|Setaria caused disease or disorder UMLS:C0036850|SCTID:4414005|DOID:1079|MESH:D012719|EFO:0007482 owl:Class PO:0004010 biolink:NamedThing meristematic cell A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall. tmpte7i6ely_mondo_relaxed.owl stem cell (exact)|分裂組織細胞 (Japanese, exact)|célula meristemática (Spanish, exact) PO_GIT:272|CL:0000034 plant_anatomy owl:Class PO:0025606 biolink:NamedThing native plant cell A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment). tmpte7i6ely_mondo_relaxed.owl PO_GIT:586 A native plant cell is one that is not grown or maintained in vitro, nor part of an in vitro plant structure (PO:0000004). Laurel_Cooper 2014-05-13T16:51:47Z plant_anatomy owl:Class MONDO:0022891 biolink:NamedThing craniosynostosis Maroteaux Fonfria type tmpte7i6ely_mondo_relaxed.owl GARD:0001598 https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type owl:Class MONDO:0013488 biolink:NamedThing lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis tmpte7i6ely_mondo_relaxed.owl lipodystrophy, partial, acquired, associated with C3 nephritic Factor|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis|APLDC3 UMLS:C3151347|OMIM:613913 owl:Class HGNC:24323 biolink:NamedThing CARTPT tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0036385 biolink:NamedThing nucleoid DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000025 biolink:NamedThing Functional abnormality of male internal genitalia tmpte7i6ely_mondo_relaxed.owl UMLS:C4025898 human_phenotype owl:Class MONDO:0043452 biolink:NamedThing chromosome 8, trisomy A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. tmpte7i6ely_mondo_relaxed.owl trisomy 8|chromosome 8 duplication NCIT:C36396|MESH:C537942|SCTID:205649008 owl:Class MONDO:0017097 biolink:NamedThing isolated focal cortical dysplasia type Ib tmpte7i6ely_mondo_relaxed.owl FCD type IB ICD10:Q04.8|Orphanet:268980|UMLS:CN202454 owl:Class MONDO:0017095 biolink:NamedThing isolated focal cortical dysplasia type I tmpte7i6ely_mondo_relaxed.owl FCD type I UMLS:CN202452|Orphanet:268961|ICD10:Q04.8 owl:Class UBERON:0004200 biolink:NamedThing kidney pyramid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001880 biolink:NamedThing median rhomboid glossitis tmpte7i6ely_mondo_relaxed.owl persistent tuberculum impar DOID:14111|SCTID:7522008|ICD9:529.2|ICD9:750.19|ICD10:K14.2 owl:Class MONDO:0020351 biolink:NamedThing Blake pouch cyst Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development. tmpte7i6ely_mondo_relaxed.owl ICD10:Q03.1|Orphanet:98922 owl:Class MONDO:0009549 biolink:NamedThing severe early-childhood-onset retinal dystrophy Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. tmpte7i6ely_mondo_relaxed.owl Stargardt disease type 1|early-onset severe retinal dystrophy|fundus flavimaculatus|SECORD|Stgd|STGD1|EOSRD|macular Degeneration, juvenile|retinal dystrophy, early-onset severe|macular dystrophy with flecks, type 1|Stargardt disease 1 OMIM:248200|ICD10:H35.5|UMLS:C1855465|SCTID:716663009|UMLS:C0271093|Orphanet:827|Orphanet:364055 owl:Class MONDO:0017520 biolink:NamedThing symbrachydactyly of hand and foot, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295138|ICD10:Q73.8|UMLS:CN203253 owl:Class MONDO:0015516 biolink:NamedThing symbrachydactyly of hands and feet Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. tmpte7i6ely_mondo_relaxed.owl De Smet-Fabry-Fryns syndrome Orphanet:1570|ICD10:Q73.8 owl:Class HGNC:10768 biolink:NamedThing SF3B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009363 biolink:NamedThing hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. tmpte7i6ely_mondo_relaxed.owl Daish-Hardman-Lamont syndrome|hydrocephaly - tall stature - joint laxity|hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|hydrocephalus, tall stature, joint laxity and kyphoscoliosis|Daish Hardman Lamont syndrome SCTID:732926009|Orphanet:2181|OMIM:236660|GARD:0001666|MESH:C535770|UMLS:C1856051|ICD10:Q87.8 owl:Class MONDO:0012224 biolink:NamedThing febrile seizures, familial, 6 tmpte7i6ely_mondo_relaxed.owl FEB6|convulsions, familial febrile, 6|febrile seizures, familial, 6 OMIM:609253|DOID:0111309|MESH:C563764|UMLS:C1836518 owl:Class MONDO:0014900 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Y Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|LGMD2Y|muscular dystrophy with progressive weakness, distal contractures and rigid spine|muscular dystrophy, limb-girdle, type 2y|muscular dystrophy, limb-girdle, type 2Y|autosomal recessive muscular dystrophy due to LAP1B deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1 SCTID:725907002|UMLS:C4310731|Orphanet:424261|ICD10:G71.0|OMIM:617072|DOID:0110289 owl:Class MONDO:0018529 biolink:NamedThing qualitative or quantitative defects of Torsin-1A-interacting protein 1 tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of Torsin-1A-interacting protein type 1 Orphanet:424925 owl:Class HGNC:26703 biolink:NamedThing SYNE4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002106 biolink:NamedThing labyrinthine unilateral reactive loss tmpte7i6ely_mondo_relaxed.owl unilateral loss of labyrinthine reactivity|loss of labyrinthine reactivity, unilateral DOID:1776|UMLS:C0155519|ICD9:386.55 owl:Class NCBITaxon:424551 biolink:NamedThing Solanoideae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0009145 biolink:NamedThing Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebral arteries|Abnormality of cerebral artery UMLS:C4021520 peter 2008-05-02T01:39:00Z human_phenotype owl:Class MONDO:0011535 biolink:NamedThing split hand-foot malformation 4 Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene. tmpte7i6ely_mondo_relaxed.owl split-hand/foot malformation type 4|TP63 split hand-foot malformation|split hand-foot malformation caused by mutation in TP63|split-hand/foot malformation 4|split hand-foot malformation type 4|SHFM4 MESH:C565344|Orphanet:2440|UMLS:C0265554|DOID:0090023|OMIM:605289|ICD10:Q71.6 owl:Class MONDO:0015821 biolink:NamedThing mycosis fungoides and variants Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course. tmpte7i6ely_mondo_relaxed.owl ICD10:C84.0|UMLS:CN226743|Orphanet:178566 owl:Class HP:0010917 biolink:NamedThing Abnormal circulating tyrosine concentration Any deviation from the normal concentration of tyrosine in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023653 peter 2010-12-08T09:13:53Z human_phenotype owl:Class MONDO:0015102 biolink:NamedThing non-secreting chemodectoma tmpte7i6ely_mondo_relaxed.owl non-secreting chemodectoma|non-functioning chemodectoma Orphanet:101106 owl:Class MONDO:0054847 biolink:NamedThing epilepsy, familial adult myoclonic, 7 tmpte7i6ely_mondo_relaxed.owl FAME7|benign Adult Familial myoclonic epilepsy 7|cortical myoclonic tremor with epilepsy, Familial, 7|epilepsy, FAMILIAL ADULT myoclonic, 7 DOID:0111694|OMIM:618075|UMLS:CN252654 owl:Class HP:0010919 biolink:NamedThing Abnormal circulating homocysteine concentration An abnormality of a homocysteine metabolic process. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023651 peter 2010-12-11T11:48:52Z human_phenotype owl:Class MONDO:0019823 biolink:NamedThing premature closure of the arterial duct Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids. tmpte7i6ely_mondo_relaxed.owl premature closure of the patent ductus arteriosus ICD10:Q25.8|Orphanet:95486 owl:Class MONDO:0043079 biolink:NamedThing acute articular rheumatism tmpte7i6ely_mondo_relaxed.owl acute rheumatic arthritis|acute articular rheumatism|acute rheumatism GARD:0000518|SCTID:81077008 owl:Class MONDO:0011863 biolink:NamedThing prostate cancer aggressiveness quantitative trait locus on chromosome 19 tmpte7i6ely_mondo_relaxed.owl prostate cancer aggressiveness quantitative trait locus on chromosome 19|HPCqtl19|prostate cancer aggressiveness quantitative trait locus on chromosome type 19 OMIM:607592 owl:Class UBERON:0003430 biolink:NamedThing neck nerve tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0025395 biolink:NamedThing floral organ A plant organ (PO:0009008) that is part of a flower (PO:0009046). tmpte7i6ely_mondo_relaxed.owl órgano floral (Spanish, exact)|flower organ (exact)|花器官 (Japanese, exact) PO_GIT:423 Includes phyllomes such as anthers and petals, as well as shoot axes such as androphores and gynophores. rwalls 2012-01-19T11:44:36Z plant_anatomy owl:Class MONDO:0009755 biolink:NamedThing neutrophil actin dysfunction Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma. tmpte7i6ely_mondo_relaxed.owl dysplastic nevus|Nevus with architectural disorder|dysplastic Nevus|Clark Nevus|neutrophil actin dysfunction|Nevus with architectural disorder and cytologic atypia of melanocytes|dysplastic nevi|lentiginous Nevus|NAD|Clark's Nevus|Atypical Nevus OMIM:257150|MESH:C564942|UMLS:C1850380|Orphanet:625|NCIT:C3694 owl:Class MONDO:0011505 biolink:NamedThing familial hypobetalipoproteinemia 2 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. tmpte7i6ely_mondo_relaxed.owl familial hypobetalipoproteinemia 2|hypobetalipoproteinemia, familial, type 2|hypobetalipoproteinemia, familial, 2|FHBL2|ANGPTL3 hypobetalipoproteinemia|hypolipidemia, familial, combined|combined familial hypolipidemia|familial hypobetalipoproteinemia type 2|hypobetalipoproteinemia caused by mutation in ANGPTL3 MESH:C565732|DOID:0111061|UMLS:C1857970|OMIM:605019 owl:Class MONDO:0007814 biolink:NamedThing immune deficiency, familial variable tmpte7i6ely_mondo_relaxed.owl immune deficiency, familial variable UMLS:C1840266|Orphanet:1572|GARD:0002984|MESH:C564136|OMIM:146830 https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable owl:Class MONDO:0004133 biolink:NamedThing pituitary gland mixed eosinophil-basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. tmpte7i6ely_mondo_relaxed.owl pituitary gland mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma|mixed eosinophil-basophil adenoma|mixed acidophil-basophil adenoma (morphologic abnormality) DOID:7179|NCIT:C4148|ICDO:8281/0|UMLS:C0334312 owl:Class HGNC:914 biolink:NamedThing B2M tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016475 biolink:NamedThing Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 tmpte7i6ely_mondo_relaxed.owl Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15 UMLS:CN201470|ICD10:Q87.3|Orphanet:231117 owl:Class NCBITaxon:194441 biolink:NamedThing Primate T-lymphotropic virus 2 tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:3309 biolink:NamedThing ELANE tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14630 biolink:NamedThing CRELD1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:314145 biolink:NamedThing Laurasiatheria tmpte7i6ely_mondo_relaxed.owl GC_ID:1|PMID:11214318|PMID:11214319|PMID:12878460 ncbi_taxonomy owl:Class GO:0099103 biolink:NamedThing channel activator activity Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpte7i6ely_mondo_relaxed.owl channel gating activity owl:Class MONDO:0060761 biolink:NamedThing neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum tmpte7i6ely_mondo_relaxed.owl NEDEHCC|neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum OMIM:618090 owl:Class MONDO:0009646 biolink:NamedThing Monosomy 7 myelodysplasia and leukemia syndrome 1 tmpte7i6ely_mondo_relaxed.owl chromosome 7Q deletion|myelodysplasia and leukemia syndrome with monosomy 7|M7MLS1|monosomy 7 of bone marrow UMLS:C1854978|MESH:C565370|OMIM:252270 owl:Class MONDO:0000400 biolink:NamedThing mixed cerebral palsy A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. tmpte7i6ely_mondo_relaxed.owl UMLS:C0751024|NCIT:C97177|SCTID:702318008|DOID:0050673|ICD9:343.8 owl:Class MONDO:0015392 biolink:NamedThing nasal glial heterotopia Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. tmpte7i6ely_mondo_relaxed.owl nasal glioma Orphanet:141112|UMLS:C0266490|SCTID:5645008|ICD9:748.1 owl:Class MONDO:0003069 biolink:NamedThing suppurative lymphadenitis A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria. tmpte7i6ely_mondo_relaxed.owl suppurative lymphadenopathy NCIT:C27135|DOID:4639|SCTID:48573006|ICD9:457.8|UMLS:C0392051 owl:Class UBERON:0006682 biolink:NamedThing hypoglossal canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007624 biolink:NamedThing Flynn-Aird syndrome Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne. tmpte7i6ely_mondo_relaxed.owl Flynn-Aird syndrome|Flynn Aird syndrome|cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental ICD10:Q87.8|OMIM:136300|SCTID:239056006|GARD:0002347|Orphanet:2047|MESH:C537066|UMLS:C0343108 https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome owl:Class MONDO:0011331 biolink:NamedThing congenital chylothorax Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. tmpte7i6ely_mondo_relaxed.owl hydrothorax, congenital|chylothorax, congenital UMLS:C0340014|GARD:0010156|Orphanet:264688|ICD9:511.89|DOID:0060646|OMIM:603523|SCTID:233646003|ICD10:I89.8|MESH:C535461 https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital owl:Class MONDO:0015520 biolink:NamedThing late infantile CACH syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:E75.2|Orphanet:157716|OMIM:603896|UMLS:CN199659 owl:Class MONDO:0008570 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 1 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene. tmpte7i6ely_mondo_relaxed.owl thyrotoxic periodic paralysis caused by mutation in CACNA1S|TTPP1|thyrotoxic periodic paralysis, susceptibility to, type 1|CACNA1S thyrotoxic periodic paralysis|thyrotoxic periodic paralysis, susceptibility to, 1 Orphanet:79102|UMLS:C0268446|OMIM:188580 owl:Class HP:0003124 biolink:NamedThing Hypercholesterolemia An increased concentration of cholesterol in the blood. tmpte7i6ely_mondo_relaxed.owl Elevated total cholesterol|Elevated serum cholesterol|High cholesterol|Increased total cholesterol UMLS:C0595929|MSH:D006937|SNOMEDCT_US:166830008|SNOMEDCT_US:13644009|UMLS:C0020443 HP:0008359|HP:0008173|HP:0008154 human_phenotype owl:Class HGNC:23639 biolink:NamedThing TTC37 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018854 biolink:NamedThing acquired purpura fulminans A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF. tmpte7i6ely_mondo_relaxed.owl acquired purpura fulminans|acquired PF UMLS:CN205163|Orphanet:49566|SCTID:725157006|UMLS:C4510896|ICD10:D65|MedDRA:10037556 owl:Class MONDO:0016736 biolink:NamedThing rosette-forming glioneuronal tumor of fourth ventricule A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal. tmpte7i6ely_mondo_relaxed.owl DNT of the cerebellum|dysembryoplastic neuroepithelial tumor of cerebellum|rosette-forming glioneuronal tumor|RGNT UMLS:C4331262|NCIT:C129431|UMLS:CN201984|Orphanet:251975 owl:Class MONDO:0011298 biolink:NamedThing schizophrenia 8 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 18-related|schizophrenia 8|SCZD8|schizophrenia 8 with or without an affective disorder OMIM:603206|UMLS:C1864124|DOID:0070084 owl:Class MONDO:0007663 biolink:NamedThing glaucoma with elevated episcleral venous pressure tmpte7i6ely_mondo_relaxed.owl glaucoma with elevated episcleral venous pressure OMIM:137700|MESH:C564235|UMLS:C1842030 owl:Class MONDO:0004505 biolink:NamedThing central breast papilloma A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. tmpte7i6ely_mondo_relaxed.owl solitary intraductal breast papilloma|large duct breast papilloma UMLS:C1332896|DOID:8224|NCIT:C36087 owl:Class MONDO:0010637 biolink:NamedThing keratosis follicularis spinulosa decalvans, X-linked tmpte7i6ely_mondo_relaxed.owl keratosis follicularis spinulosa decalvans cum ophiasi|keratosis follicularis spinulosa decalvans|keratosis follicularis SPINULOSA decalvans, X-linked|keratosis follicularis spinulosa decalvans, X-linked|KFSDX|Kfsdx|keratosis follicularis Spinulosa decalvans cum Ophiasi UMLS:C3887525|Orphanet:2340|MESH:C536159|OMIM:308800 owl:Class MONDO:0000440 biolink:NamedThing metabolic acidosis tmpte7i6ely_mondo_relaxed.owl DOID:0050758|SCTID:59455009 owl:Class GO:0072503 biolink:NamedThing cellular divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5151 biolink:NamedThing Ophiostomatales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:25676 biolink:NamedThing GORAB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017051 biolink:NamedThing classic maple syrup urine disease Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. tmpte7i6ely_mondo_relaxed.owl classic maple syrup urine disease|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic MSUD|classic BCKD deficiency|classic branched-chain ketoaciduria|classic branched-chain 2-ketoacid dehydrogenase deficiency OMIM:248600|Orphanet:268145|ICD10:E71.0 owl:Class HGNC:12410 biolink:NamedThing TUBA8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008268 biolink:NamedThing polydactyly-myopia syndrome Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl postaxial polydactyly-progressive myopia syndrome|polydactyly, postaxial, with progressive myopia|Czeizel Brooser syndrome|polydactyly myopia syndrome|Czeizel-Brooser syndrome|PMS|polydactyly-myopia syndrome|postaxial polydactyly with progressive myopia ICD10:Q87.2|ICD9:625.4|SCTID:82639001|GARD:0004413|OMIM:174310|Orphanet:2917|MESH:C536331 https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome owl:Class MONDO:0009983 biolink:NamedThing retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome|retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|retinitis pigmentosa, deafness, mental retardation, and hypogonadism UMLS:C1849401|OMIM:268020|GARD:0004683|MESH:C564841|ICD10:Q87.8|Orphanet:3085 owl:Class MONDO:0020442 biolink:NamedThing left superior vena cava persisting to left-sided atrium tmpte7i6ely_mondo_relaxed.owl left superior caval vein persisting to left-sided atrium|left SVC persisting to left-sided atrium ICD10:Q26.1|Orphanet:99111|ICD9:747.49|SCTID:445436005 owl:Class MONDO:0043085 biolink:NamedThing chromosome 1, uniparental disomy 1q12 q21 tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy 1q12 q21|uniparental disomy 1q12 q21 UMLS:CN035970|GARD:0001878|MESH:C538085 owl:Class MONDO:0017522 biolink:NamedThing hyperphalangy, bilateral tmpte7i6ely_mondo_relaxed.owl supernumerary phalanges, bilateral|supernumerary phalanx, bilateral ICD10:Q74.8|Orphanet:295142 owl:Class MONDO:0006606 biolink:NamedThing scleredema adultorum A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. tmpte7i6ely_mondo_relaxed.owl scleredema adultorum of Buschke|Buschke's scleredema|scleredema Diabeticorum|scleredema|Diabeticorums, scleredema|Diabeticorum, scleredema|scleredema, Buschke's|scleredemas|scleredema Diabeticorums|scleredema adultorum|scleredema Diabeticorum of Buschke|Buschke scleredema|Buschke scleredema Diabeticorum|Buschke scleredema adultorum|Buschkes scleredema NCIT:C85057|MESH:D012592|ICD10:M34.8|UMLS:C0036413|DOID:3140|GARD:0005975|SCTID:95323007|EFO:1000762|Orphanet:352763 owl:Class MONDO:0002523 biolink:NamedThing cutaneous mucinosis The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). tmpte7i6ely_mondo_relaxed.owl mucinosis affecting the skin|mucinoses|mucinosis DOID:3141|ICD9:701.8|MESH:D017520|SCTID:402721001|UMLS:C0162855 Editor note: consider splitting by location owl:Class MONDO:0001067 biolink:NamedThing early yaws Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. tmpte7i6ely_mondo_relaxed.owl chancre of yaws|frambesia, initial or primary|bone and joint lesions due to yaws|primary frambesia|bone and joint yaws lesion|initial frambesial ulcer|initial lesions of yaws DOID:10568|ICD9:102.2|SCTID:23191004|ICD9:102.6|NCIT:C41352|ICD10:A66.6|ICD10:A66.0|ICD9:102.0|UMLS:C0275998 owl:Class MONDO:0011819 biolink:NamedThing spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 19 and 22|spinocerebellar ataxia 19|spinocerebellar ataxia 22|spinocerebellar ataxia type 19|SCA19|SCA19/22 DOID:0050970|MESH:C542540|OMIM:607346|ICD10:G11.2|SCTID:719251009|GARD:0012365|MESH:C537198|Orphanet:98772 owl:Class MONDO:0011506 biolink:NamedThing familial infantile myoclonic epilepsy tmpte7i6ely_mondo_relaxed.owl FIME|familial infantile myoclonus epilepsy|myoclonic epilepsy, familial infantile|Eim OMIM:605021|ICD10:G40.3|UMLS:C0917800|Orphanet:352582 owl:Class MONDO:0020513 biolink:NamedThing spermatocytic seminoma A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. tmpte7i6ely_mondo_relaxed.owl testicular spermatocytic seminoma|spermatocytic seminoma|spermatocytoma OMIM:273300|ICD10:C62.9|DOID:7891|DOID:5834|ICDO:9063/3|UMLS:C0334517|Orphanet:99865|NCIT:C39921 owl:Class GO:0048592 biolink:NamedThing eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012641 biolink:NamedThing restless legs syndrome, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl restless legs syndrome, susceptibility to, 5|RLS 5|RLS5 GARD:0010272|OMIM:611242 owl:Class MONDO:0032748 biolink:NamedThing spermatogenic failure 38 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 38|SPGF38 OMIM:618433 owl:Class GO:0010032 biolink:NamedThing meiotic chromosome condensation Compaction of chromatin structure prior to meiosis in eukaryotic cells. tmpte7i6ely_mondo_relaxed.owl chromosome condensation involved in meiotic cell cycle owl:Class MONDO:0006561 biolink:NamedThing eyelid hypopigmentation Under-production of pigment in the eyelid. tmpte7i6ely_mondo_relaxed.owl hypopigmentation of eyelid ICD10:H02.73|EFO:1000713|SCTID:68210006|ICD9:374.53|UMLS:C0155212|DOID:11668 owl:Class MONDO:0054695 biolink:NamedThing myopathy, centronuclear, 6, with fiber-type disproportion tmpte7i6ely_mondo_relaxed.owl myopathy, centronuclear, 6, with FIBER-type disproportion|myopathy, centronuclear, 6, with fiber-type disproportion|CNM6 UMLS:C4540345|DOID:0111221|OMIM:617760 owl:Class UBERON:0005998 biolink:NamedThing tricuspid valve cusp tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001337 biolink:NamedThing Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. tmpte7i6ely_mondo_relaxed.owl Tremors|Tremor SNOMEDCT_US:26079004|UMLS:C0040822|MSH:D014202 Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. HP:0001295|HP:0001309 human_phenotype owl:Class HGNC:18829 biolink:NamedThing KLHL10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020475 biolink:NamedThing dermotrichic syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:99688|UMLS:CN207344 Editor note: See PMID:1456297 owl:Class MONDO:0008573 biolink:NamedThing tibial torsion, bilateral medial tmpte7i6ely_mondo_relaxed.owl tibial torsion, bilateral medial MESH:C566045|UMLS:C1861097|OMIM:188800 owl:Class MONDO:0009978 biolink:NamedThing retinal degeneration-nanophthalmos-glaucoma syndrome Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl MacKay Shek Carr syndrome|retinal degeneration, nanophthalmos, glaucoma|Mackay-Shek-Carr syndrome|retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma Orphanet:1574|UMLS:C2931831|OMIM:267760|SCTID:723503006|ICD10:H35.5|MESH:C538364|GARD:0000395 owl:Class MONDO:0006254 biolink:NamedThing intestinal type adenocarcinoma An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas. tmpte7i6ely_mondo_relaxed.owl intestinal type carcinoma|intestinal-type adenocarcinoma NCIT:C4126|EFO:1000304|UMLS:C0334279|ICDO:8144/3 owl:Class MONDO:0013248 biolink:NamedThing Fanconi anemia complementation group O Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. tmpte7i6ely_mondo_relaxed.owl Fanconi anemia caused by mutation in Rad51C|FANCO|Fanconi anemia, complementation group O|Rad51C Fanconi anemia|RAD51C Fanconi anemia|Fanconi Anemia, complementation group type O|Fanconi anemia caused by mutation in RAD51C|Fanconi anemia complementation group type O UMLS:C3150653|OMIM:613390|DOID:0111096 owl:Class MONDO:0013205 biolink:NamedThing corneal dystrophy, fuchs endothelial, 5 tmpte7i6ely_mondo_relaxed.owl Fcd3 locus|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 5|FECD5 UMLS:C2750449|OMIM:613269|Orphanet:98974 owl:Class MONDO:0000584 biolink:NamedThing B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. tmpte7i6ely_mondo_relaxed.owl B-cell linker protein deficiency|BLNK deficiency DOID:0060027 owl:Class MONDO:0007024 biolink:NamedThing Yersinia pseudotuberculosis infectious disease Infections with bacteria of the species yersinia pseudotuberculosis. tmpte7i6ely_mondo_relaxed.owl pseudotuberculosis|pseudotuberculosis, Pasteurella|Pasteurella pseudotuberculosis|Pasteurella Pseudotuberculoses|Pseudotuberculoses, Pasteurella|infection by Yersinia pseudotuberculosis|infections, Yersinia pseudotuberculosis|infection by Pasteurella pseudotuberculosis EFO:1001246|UMLS:C0043410|MESH:D015012|SCTID:36753006 owl:Class CL:0002536 biolink:NamedThing epithelial cell of amnion An epithelial cell that is part of the amnion. tmpte7i6ely_mondo_relaxed.owl amniotic epithelial cell tmeehan 2011-02-28T12:38:01Z cell owl:Class MONDO:0019474 biolink:NamedThing hepatosplenic T-cell lymphoma An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis. tmpte7i6ely_mondo_relaxed.owl HSTCL|Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459|MedDRA:10066957|ONCOTREE:HSTCL|SCTID:445406001|ICD10:C86.1|ICDO:9716/3|UMLS:C1333984|Orphanet:86882|ICD9:202.80 owl:Class MONDO:0030309 biolink:NamedThing Leber hereditary optic neuropathy, autosomal recessive tmpte7i6ely_mondo_relaxed.owl Leber hereditary optic neuropathy, autosomal recessive|LHONAR|mitochondrial complex 1 deficiency, nuclear type 38 OMIM:619382 owl:Class HGNC:3097 biolink:NamedThing DYSF tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13176 biolink:NamedThing IKZF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000756 biolink:NamedThing parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. tmpte7i6ely_mondo_relaxed.owl DOID:0060338 Editor note: check subclasses, does not appear to be complete owl:Class GO:2000348 biolink:NamedThing regulation of CD40 signaling pathway Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpte7i6ely_mondo_relaxed.owl regulation of CD40 signalling pathway owl:Class MONDO:0009961 biolink:NamedThing renal and mullerian duct hypoplasia tmpte7i6ely_mondo_relaxed.owl renal and mullerian duct hypoplasia UMLS:C1849439|OMIM:266810|MESH:C564853 owl:Class CHEBI:58945 biolink:NamedThing organophosphate oxoanion An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated. tmpte7i6ely_mondo_relaxed.owl organophosphate oxoanions owl:Class MONDO:0006624 biolink:NamedThing overactive bladder Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. tmpte7i6ely_mondo_relaxed.owl overactive bladder (disease)|overactive bladder overactive bladder (disease) EFO:1000781|HP:0000012|MedDRA:10020853|SCTID:236633002|ICD9:596.51|MESH:D053201 owl:Class FOODON:03414374 biolink:NamedThing bovine The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012296 biolink:NamedThing lipomyelomeningocele Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome. tmpte7i6ely_mondo_relaxed.owl lipomyelomeningocele|familial lipomyelomeningocele Orphanet:268835|ICD9:214.8|SCTID:104431000119107|GARD:0010053|MESH:C537030|UMLS:C1836022|OMIM:609537|ICD10:Q05.9 https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele owl:Class MONDO:0003118 biolink:NamedThing testicular Brenner tumor An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. tmpte7i6ely_mondo_relaxed.owl testes, rudimentary Brenner tumor|testis Brenner tumor NCIT:C39953|DOID:4739|UMLS:C1515281 owl:Class MONDO:0002719 biolink:NamedThing conus medullaris neoplasm A neoplasm (disease) that involves the conus medullaris. tmpte7i6ely_mondo_relaxed.owl tumor of the conus medullaris|neoplasm of the conus medullaris|conus medullaris neoplasm (disease)|conus medullaris tumor|tumor of conus medullaris|conus medullaris neoplasm|neoplasm of conus medullaris UMLS:C1333153|NCIT:C5443|DOID:3641 owl:Class MONDO:0007685 biolink:NamedThing granulosis rubra nasi tmpte7i6ely_mondo_relaxed.owl granulosis rubra nasi OMIM:139000|SCTID:22818000|MESH:C562483|ICD9:705.89|UMLS:C0263471 owl:Class MONDO:0035004 biolink:NamedThing serine biosynthesis pathway deficiency, infantile/juvenile form tmpte7i6ely_mondo_relaxed.owl Orphanet:583595 owl:Class MONDO:0023079 biolink:NamedThing epidermal nevus vitamin D resistant rickets tmpte7i6ely_mondo_relaxed.owl GARD:0002136 https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets owl:Class MONDO:0003359 biolink:NamedThing myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. tmpte7i6ely_mondo_relaxed.owl myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma MESH:D007890|ICDO:8896/3|DOID:5268|NCIT:C3701|UMLS:C0205816 owl:Class HGNC:53 biolink:NamedThing ABCC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021659 biolink:NamedThing combined carcinoid and adenocarcinoma A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells. tmpte7i6ely_mondo_relaxed.owl adenocarcinoid tumor|combined carcinoid tumor and adenocarcinoma|mixed carcinoid tumor|composite carcinoid neoplasm|composite carcinoid|adenocarcinoid neoplasm|combined carcinoid and adenocarcinoma|mixed carcinoid neoplasm|composite carcinoid tumor|combined carcinoid neoplasm and adenocarcinoma MESH:C538230|GARD:0005741|ICDO:8244/3|NCIT:C4139|ICDO:8245/3|UMLS:C0334302 owl:Class MONDO:0021908 biolink:NamedThing aplasia cutis congenita dominant Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance. tmpte7i6ely_mondo_relaxed.owl GARD:0000751 https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant owl:Class MONDO:0060549 biolink:NamedThing congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay tmpte7i6ely_mondo_relaxed.owl CAKUTHED|congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay UMLS:C4539968|OMIM:617641 owl:Class MONDO:0008615 biolink:NamedThing tune deafness tmpte7i6ely_mondo_relaxed.owl tone deafness|Dysmelodia|amusia, congenital|tune deafness MESH:C566019|OMIM:191200|ICD9:389.8|SCTID:55647004|UMLS:C1860646 owl:Class MONDO:0004427 biolink:NamedThing supraglottis neoplasm A benign or malignant neoplasm that affects the supraglottic area of the larynx. tmpte7i6ely_mondo_relaxed.owl tumor of supraglottis|supraglottic part of larynx neoplasm|supraglottic part of larynx neoplasm (disease)|neoplasm of supraglottic part of larynx|supraglottis neoplasm|supraglottis tumor|tumor of the supraglottis|neoplasm of supraglottis|supraglottic part of larynx tumor|supraglottic neoplasm|tumor of supraglottic part of larynx|supraglottic tumor|neoplasm of the supraglottis UMLS:C0345726|DOID:8002|NCIT:C6793|SCTID:126697005 owl:Class UBERON:0005852 biolink:NamedThing thoracic spinal cord ventral column tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000769 biolink:NamedThing Abnormality of the breast An abnormality of the breast. tmpte7i6ely_mondo_relaxed.owl Abnormality of the breast UMLS:C4025829 human_phenotype owl:Class NCBITaxon:1648037 biolink:NamedThing Poodae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011317 biolink:NamedThing microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects tmpte7i6ely_mondo_relaxed.owl microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects MESH:C566377|UMLS:C1863919|OMIM:603394 owl:Class NCBITaxon:10258 biolink:NamedThing Orf virus tmpte7i6ely_mondo_relaxed.owl Contagious pustular dermatitis virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017955 biolink:NamedThing granulomatous autoinflammatory syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:324930|UMLS:CN204101 owl:Class CL:0002595 biolink:NamedThing smooth muscle cell of the subclavian artery A smooth muscle cell of the subclavian artery. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:01:52Z cell owl:Class MONDO:0009069 biolink:NamedThing congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. tmpte7i6ely_mondo_relaxed.owl Cox deficiency, Saguenay-Lac-Saint-Jean type|cytochrome C oxidase deficiency, French-Canadian type|Leigh syndrome, Saguenay Lac saint Jean type|Leigh syndrome, French Canadian type|cytochrome C oxidase deficiency, French Canadian type|Leigh syndrome, French-Canadian type|Cox deficiency, French Canadian type|Cox deficiency, Saguenay Lac saint Jean type|Leigh syndrome, Saguenay-Lac-Saint-Jean type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|COX deficiency, French-Canadian type|SLSJ-COX deficiency|LSFC|congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Orphanet:506|Orphanet:70472|ICD10:G31.8|MESH:C537004|GARD:0008370|SCTID:718219002|OMIM:220111 owl:Class MONDO:0018217 biolink:NamedThing Koolen-de Vries syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl ICD10:Q93.5|Orphanet:363965|UMLS:CN204741 owl:Class MONDO:0022795 biolink:NamedThing deficiency of coenzyme q cytochrome c reductase tmpte7i6ely_mondo_relaxed.owl coenzyme Q cytochrome c reductase deficiency of GARD:0001419 https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of owl:Class MONDO:0021039 biolink:NamedThing extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. tmpte7i6ely_mondo_relaxed.owl extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UMLS:C0279980|EFO:1000250|DOID:4985|UMLS:C1333514|NCIT:C7135|NCIT:C27293 owl:Class MONDO:0018811 biolink:NamedThing congenital portosystemic shunt Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours. tmpte7i6ely_mondo_relaxed.owl congenital portosystemic venous fistula Orphanet:480531 owl:Class MONDO:0002949 biolink:NamedThing morpheaform basal cell carcinoma A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma. tmpte7i6ely_mondo_relaxed.owl morphea-type (sclerosing) basal cell carcinoma|cicatricial basal-cell carcinoma|basal cell carcinoma, morphea|basal cell carcinoma sclerosing type|morphea-type basal cell carcinoma|sclerosing type basal cell carcinoma|morpheaform basal cell carcinoma|skin morphea-type (sclerosing) basal cell carcinoma DOID:4292|SCTID:403913006|UMLS:C0555191|NCIT:C27182 owl:Class MONDO:0007053 biolink:NamedThing restless legs syndrome 1 tmpte7i6ely_mondo_relaxed.owl acromelalgia, hereditary|restless legs syndrome, susceptibility to, 1|RLS1|Ekbom syndrome UMLS:C3888109|GARD:0009709|MESH:C538443|OMIM:102300 owl:Class MONDO:0054842 biolink:NamedThing polycystic kidney disease 6 with or without polycystic liver disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. tmpte7i6ely_mondo_relaxed.owl polycystic kidney disease 6 with or without polycystic liver disease|polycystic kidney disease caused by mutation in DNAJB11|PKD6|DNAJB11 polycystic kidney disease OMIM:618061|UMLS:CN252647 owl:Class MONDO:0017906 biolink:NamedThing amyloidosis cutis dyschromia Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. tmpte7i6ely_mondo_relaxed.owl amyloidosis cutis dyschromica Orphanet:319635|ICD10:L99.0*|ICD10:E85.4+ owl:Class MONDO:0017958 biolink:NamedThing magic syndrome tmpte7i6ely_mondo_relaxed.owl mouth and genital ulcers with inflamed cartilage UMLS:CN204105|Orphanet:324972|GARD:0013371 owl:Class MONDO:0032694 biolink:NamedThing microcephaly 25, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MCPH25|MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618351 owl:Class MONDO:0021896 biolink:NamedThing anterior spinal artery stroke tmpte7i6ely_mondo_relaxed.owl GARD:0009653|UMLS:C2931608|MESH:C537776 https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke owl:Class MONDO:0012236 biolink:NamedThing keratoconus 4 tmpte7i6ely_mondo_relaxed.owl KTCN4|keratoconus 4 MESH:C563752|OMIM:609271|UMLS:C1836473 owl:Class UBERON:0013455 biolink:NamedThing spheno-petrosal fissure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012620 biolink:NamedThing prostate cancer, hereditary, 10 tmpte7i6ely_mondo_relaxed.owl HPC10|prostate cancer, hereditary, 10 UMLS:C1970192|MESH:C567011|OMIM:611100 owl:Class GO:0097708 biolink:NamedThing intracellular vesicle Any vesicle that is part of the intracellular region. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020745 biolink:NamedThing autosomal dominant cardiac arrhythmia (Kuhn) tmpte7i6ely_mondo_relaxed.owl extrasystoles|cardiac arrhythmia OMIM:115000 owl:Class GO:0099601 biolink:NamedThing regulation of neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:64577 biolink:NamedThing flour treatment agent A food additive which is added to flour or dough to improve baking quality and/or colour. tmpte7i6ely_mondo_relaxed.owl dough improver|dough improvers|improving agents|flour treatment agent|improving agent owl:Class FOODON:03430113 biolink:NamedThing food physical quality The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00002470 biolink:NamedThing food object quality tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003436 biolink:NamedThing shoulder nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0019310 biolink:NamedThing glossopharyngeal nerve root tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014542 biolink:NamedThing cervical division of cord spinal central canal tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001026 biolink:NamedThing genome A genome is the sum of genetic material within a cell or virion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010095 biolink:NamedThing ataxia-tapetoretinal degeneration syndrome tmpte7i6ely_mondo_relaxed.owl tapetoretinal degeneration with ataxia OMIM:272600|Orphanet:1178|UMLS:C1848932|MESH:C564788 owl:Class MONDO:0011149 biolink:NamedThing premature aging syndrome, Okamoto type tmpte7i6ely_mondo_relaxed.owl premature aging Okamoto type|premature aging syndrome, Okamoto type|premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay OMIM:601811|GARD:0004478|MESH:C566621|UMLS:C1866183 owl:Class MONDO:0000572 biolink:NamedThing recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. tmpte7i6ely_mondo_relaxed.owl recombinase activating gene 1 deficiency DOID:0060011 owl:Class MONDO:0010304 biolink:NamedThing Graves disease, susceptibility to, X-linked 1 tmpte7i6ely_mondo_relaxed.owl Graves disease, susceptibility to, X-linked 2|Graves disease, susceptibility to, X-linked 1|Grdx1|Graves disease, susceptibility to, X-linked type 1 OMIM:300351 owl:Class MONDO:0012440 biolink:NamedThing migraine with or without aura, susceptibility to, 10 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, 10|migraine with pulsation|Mgr10|migraine with or without aura, susceptibility to, type 10 OMIM:610208 owl:Class MONDO:0010594 biolink:NamedThing inherited genitourinary tract anomalies tmpte7i6ely_mondo_relaxed.owl genitourinary tract anomalies|inherited genitourinary tract anomalies (disease) inherited genitourinary tract anomalies (disease) MESH:C564424|HP:0000119|OMIM:305690 owl:Class ENVO:2100000 biolink:NamedThing anatomical entity environment An environment which is determined by an anatomical entity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019329 biolink:NamedThing microcystic lymphatic malformation tmpte7i6ely_mondo_relaxed.owl microcystic infiltrating lymphatic malformation|capillary lymphangioma|capillary lymphatic malformation|superficial lymphangioma|superficial lymphatic malformation|cutaneous lymphangioma circumscriptum|microcystic lymphangioma ICD10:D18.1|GARD:0013020|Orphanet:79490 owl:Class MONDO:0100028 biolink:NamedThing immune epilepsy Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 00:11:14+00:00 owl:Class MONDO:0060758 biolink:NamedThing spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits tmpte7i6ely_mondo_relaxed.owl SCA42ND|spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM:618087 owl:Class CHEBI:36093 biolink:NamedThing inorganic chloride tmpte7i6ely_mondo_relaxed.owl inorganic chloride salt|inorganic chlorides|inorganic chloride salts owl:Class CHEBI:24839 biolink:NamedThing inorganic salt tmpte7i6ely_mondo_relaxed.owl anorganisches Salz|inorganic salts owl:Class ECTO:7000068 biolink:NamedThing exposure to particulate matter A exposure event involving the interaction of an exposure receptor to particulate matter. tmpte7i6ely_mondo_relaxed.owl particulate matter exposure owl:Class MONDO:0015944 biolink:NamedThing axial mesodermal dysplasia spectrum Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. tmpte7i6ely_mondo_relaxed.owl Russell Weaver Bull syndrome|blastogenesis defect|Russell-Weaver-Bull syndrome MESH:C537790|Orphanet:1834|UMLS:C2931613|ICD10:Q87.8|GARD:0000213|SCTID:765755006 https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum owl:Class MONDO:0013472 biolink:NamedThing fatal infantile hypertonic myofibrillar myopathy tmpte7i6ely_mondo_relaxed.owl alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|myofibrillar myopathy type 7|fatal infantile hypertonic myofibrillar myopathy|MFM, fatal infantile hypertonic, alpha-B crystallin-related|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related UMLS:C3151236|DOID:0080309|Orphanet:280553|ICD10:G71.2|OMIM:613869 owl:Class MONDO:0011107 biolink:NamedThing congenital hypotrichosis with juvenile macular dystrophy A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. tmpte7i6ely_mondo_relaxed.owl hypotrichosis with juvenile macular degeneration|HJMD|juvenile macular degeneration and hypotrichosis|hypotrichosis, congenital, with juvenile macular dystrophy|Hjmd|hypotrichosis with cone-rod dystrophy|hypotrichosis with juvenile macular dystrophy|juvenile macular dystrophy and congenital hypotrichosis MESH:C537698|ICD10:Q84.0|UMLS:C1832162|GARD:0003066|DOID:0110711|OMIM:601553|Orphanet:1573 owl:Class MONDO:0002929 biolink:NamedThing pulmonary immaturity tmpte7i6ely_mondo_relaxed.owl primary atelectasis, in perinatal period|primary atelectasis of newborn ICD10:P28.0|SCTID:42908004|DOID:424|ICD9:770.4 owl:Class OBO:CP_0000000 biolink:NamedThing neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-05-25T01:36:34Z cell owl:Class MONDO:0100205 biolink:NamedThing parainfluenza virus type 4 infectious disease A disease caused by infection with parainfluenza virus type 4. tmpte7i6ely_mondo_relaxed.owl infection due to human parainfluenza virus 4|infection caused by parainfluenza virus 4|human rubulavirus 4 infectious disease|infection due to parainfluenza virus 4|infection caused by human parainfluenza virus 4 OMOP:4288743 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class OBO:MFOMD_0000119 biolink:NamedThing dissociation A disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment. The disturbance may be sudden or gradual, transient or chronic. DSM-IV-TR (american Psychiatric Association) tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700118 biolink:NamedThing proximal chromosome 18q deletion syndrome Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. tmpte7i6ely_mondo_relaxed.owl proximal 18q-|proximal 18q deletion syndrome|proximal 18q deletion GARD:0010866 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016733 biolink:NamedThing ganglioglioma A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl ganglioglioma|childhood ganglioglioma|CNS ganglioglioma|adult ganglioglioma|mixed cell tumors containing both neural ganglionic cells and neural glial cell components EFO:0003094|DOID:5078|MESH:D018303|MedDRA:10017701|NCIT:C3788|GARD:0002430|SCTID:87191000119100|UMLS:C0206716|ONCOTREE:GNG|ICDO:9505/1|Orphanet:251949 https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma owl:Class UBERON:0011862 biolink:NamedThing pulmonary collagen fibril tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010391 biolink:NamedThing angioma serpiginosum, X-linked tmpte7i6ely_mondo_relaxed.owl angioma serpiginosum, X-linked GARD:0010188|OMIM:300652|Orphanet:95429 owl:Class HGNC:18744 biolink:NamedThing DNAI2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044644 biolink:NamedThing congenital agenesis of the scrotum tmpte7i6ely_mondo_relaxed.owl congenital absence of the scrotum|congenital scrotal absence|congenital scrotal agenesis Orphanet:495879 owl:Class MONDO:0006147 biolink:NamedThing chronic eosinophilic leukemia, not otherwise specified A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl chronic eosinophilic leukemia/hypereosinophilic syndrome|CEL/hypereosinophilic syndrome|CEL|CELNOS|eosinophilic leukemia|chronic eosinophilic leukemia 2022-05-01 ICDO:9964/3|EFO:1000178|ONCOTREE:CELNOS|UMLS:C0346421|NCIT:C4563 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class HGNC:904 biolink:NamedThing AXIN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005936 biolink:NamedThing recurrent pneumonia Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. tmpte7i6ely_mondo_relaxed.owl recurrent pneumonia (disease)|recurrent pneumonia recurrent pneumonia (disease) EFO:0007461|HP:0006532|SCTID:699014000 owl:Class MONDO:0003675 biolink:NamedThing posterolateral myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart. tmpte7i6ely_mondo_relaxed.owl NCIT:C35672|DOID:5851 owl:Class MONDO:0043152 biolink:NamedThing negative rheumatoid factor polyarthritis tmpte7i6ely_mondo_relaxed.owl RF-ve CP|rheumatoid factor negative erosive chronic polyarthritis|rheumatoid factor-negative polyarthritis UMLS:C2931825|MESH:C538347|GARD:0003931 owl:Class NCBITaxon:543 biolink:NamedThing Enterobacteriaceae tmpte7i6ely_mondo_relaxed.owl Enterobacteraceae|enterobacteria|gamma-3 proteobacteria GC_ID:11|PMID:10555334|PMID:10555323|PMID:27620848|PMID:16166704 ncbi_taxonomy owl:Class GO:0015693 biolink:NamedThing magnesium ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl magnesium transport owl:Class NCBITaxon:54285 biolink:NamedThing Oestrinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016009 biolink:NamedThing fetal trimethadione syndrome Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. tmpte7i6ely_mondo_relaxed.owl ICD10:Q86.8|Orphanet:1913|UMLS:C0265373|SCTID:66351003|ICD9:759.89|MESH:C537798 owl:Class NCBITaxon:52282 biolink:NamedThing Sarcoptes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018269 biolink:NamedThing white platelet syndrome White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. tmpte7i6ely_mondo_relaxed.owl platelet granule deficiency disorder Orphanet:370131|MESH:C536702|GARD:0009282|UMLS:C2931293|SCTID:718553004|ICD10:D69.1 Editor note: check relationship to platelet granule deficiency disorder https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome owl:Class MONDO:0007089 biolink:NamedThing Alzheimer disease 2 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. tmpte7i6ely_mondo_relaxed.owl late-onset familial alzheimer disease|LOFAD|AD2|Alzheimer disease 2, late onset|Alzheimer disease 2|Alzheimer's disease 2|Alzheimer disease associated with APOE4|Alzheimer disease 2, late-onset|Alzheimer's disease type 2|late onset familial Alzheimer disease|Alzheimer disease-2|Alzheimer disease associated with APOE E4|late onset Alzheimer disease|Alzheimer disease type 2 MESH:C536595|DOID:0110035|Orphanet:1020|UMLS:C1863051|ICD10:G30|GARD:0012799|OMIM:104310|GARD:0009467 owl:Class MONDO:0012016 biolink:NamedThing capillary malformation-arteriovenous malformation syndrome This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. tmpte7i6ely_mondo_relaxed.owl capillary malformation-arteriovenous malformation|CM-AVM|CMAVM|capillary malformation without arteriovenous malformation|CM-AVM syndrome GARD:0011904|OMIMPS:608354|SCTID:703533007|ICD10:Q27.3|ICD9:747.69|MESH:C564254|Orphanet:137667|OMIM:608354 https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome owl:Class MONDO:0019815 biolink:NamedThing accessory tricuspid valve tissue Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. tmpte7i6ely_mondo_relaxed.owl Orphanet:95462|ICD10:Q22.8 owl:Class UBERON:0036268 biolink:NamedThing pelvic vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010531 biolink:NamedThing metanephros induced blastemal cells tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009408 biolink:NamedThing hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase tmpte7i6ely_mondo_relaxed.owl hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase OMIM:240000|UMLS:C1855884|MESH:C565489 owl:Class NCBITaxon:106179 biolink:NamedThing phagocytophilum group tmpte7i6ely_mondo_relaxed.owl phagocytophila group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017736 biolink:NamedThing disorder of sialic acid metabolism tmpte7i6ely_mondo_relaxed.owl Orphanet:309319|ICD9:277.89|SCTID:238050009|ICD10:E77.8|UMLS:C0342851 owl:Class MONDO:0035892 biolink:NamedThing Mills syndrome A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease. tmpte7i6ely_mondo_relaxed.owl Orphanet:94091 owl:Class MONDO:0017100 biolink:NamedThing neutropenia-monocytopenia-deafness syndrome Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. tmpte7i6ely_mondo_relaxed.owl Orphanet:2690|UMLS:CN202458|ICD10:D82.8 owl:Class MONDO:0005438 biolink:NamedThing metastatic malignant neoplasm in the lymph nodes The spread of a malignant neoplasm to the lymph nodes. tmpte7i6ely_mondo_relaxed.owl metastatic neoplasm to the lymph node|metastasis to lymph node|metastatic malignant neoplasm to the lymph nodes|Metastases to lymph nodes|metastatic tumor to lymph node UMLS:C0686619|NCIT:C4904|EFO:0004906 owl:Class HGNC:18571 biolink:NamedThing XKRY tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5592 biolink:NamedThing Microascales tmpte7i6ely_mondo_relaxed.owl Plectomycetes GC_ID:1 NCBITaxon:45490 ncbi_taxonomy owl:Class MONDO:0001951 biolink:NamedThing Norwegian scabies A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. tmpte7i6ely_mondo_relaxed.owl seven year itch|crusted scabies GARD:0012151|UMLS:C0028425|NCIT:C34855|SCTID:128870005|DOID:14374 owl:Class MONDO:0023642 biolink:NamedThing Weber syndrome tmpte7i6ely_mondo_relaxed.owl Midbrain stroke syndromes|Weber Syndrome|Weber-Gubler syndrome UMLS:C0455717|ICD9:344.89|SCTID:24654003|GARD:0008676 owl:Class UBERON:0010714 biolink:NamedThing iliac cartilage element tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003916 biolink:NamedThing overnutrition An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. tmpte7i6ely_mondo_relaxed.owl ICD9:278.8|SCTID:302872003|UMLS:C1257763|MESH:D044343|DOID:654 owl:Class MONDO:0012162 biolink:NamedThing patterned macular dystrophy 2 Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene. tmpte7i6ely_mondo_relaxed.owl macular dystrophy, patterned, 2|macular dystrophy, patterned, type 2|macular dystrophy, butterfly-Shaped pigmentary, 2|CTNNA1 patterned macular dystrophy|patterned macular dystrophy caused by mutation in CTNNA1|MDPT2|patterned macular dystrophy type 2|butterfly-shaped pigmentary maculary dystrophy 2 Orphanet:99001|DOID:0060864|OMIM:608970|UMLS:C1837029 owl:Class MONDO:0009481 biolink:NamedThing Jumping Frenchmen of Maine tmpte7i6ely_mondo_relaxed.owl Jumping Frenchmen of Maine|exaggerated startle reflex|'jumpers' of Maine OMIM:244100|GARD:0006803 owl:Class MONDO:0032895 biolink:NamedThing developmental and epileptic encephalopathy, 83 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 83|DEE83|Barakat-Perenthaler Syndrome|EIEE83|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 OMIM:618744 owl:Class MONDO:0009859 biolink:NamedThing PHAVER syndrome Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects. tmpte7i6ely_mondo_relaxed.owl pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects|PHAVER syndrome|Powell-Chandra-Saal syndrome MESH:C538357|Orphanet:2876|OMIM:261575|ICD10:Q87.8|GARD:0004465|UMLS:C1849928|SCTID:723453002 https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome owl:Class MONDO:0002952 biolink:NamedThing follicular basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl skin follicular basal cell carcinoma|follicular (pilar) basal cell carcinoma SCTID:402526009|DOID:4295|NCIT:C27538|UMLS:C1883723 owl:Class HGNC:11918 biolink:NamedThing TNFRSF4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030077 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 3 tmpte7i6ely_mondo_relaxed.owl Congenital Nad Deficiency Disorder 3|vertebral, cardiac, renal, and limb defects syndrome 3|VCRL3|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 OMIM:618845 owl:Class HGNC:3512 biolink:NamedThing EXT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010290 biolink:NamedThing goiter, multinodular 2 tmpte7i6ely_mondo_relaxed.owl MNG2|goiter, multinodular 2 MESH:C564546|UMLS:C1846033|OMIM:300273 owl:Class MONDO:0013224 biolink:NamedThing rhabdoid tumor predisposition syndrome 2 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. tmpte7i6ely_mondo_relaxed.owl rhabdoid tumor predisposition syndrome 2|familial rhabdoid tumor caused by mutation in SMARCA4|RTPS2|SMARCA4 familial rhabdoid tumor|rhabdoid tumor predisposition syndrome type 2 OMIM:613325|UMLS:C2750074|Orphanet:231108|Orphanet:69077|MESH:C567643 owl:Class MONDO:0007416 biolink:NamedThing Balkan nephropathy A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. tmpte7i6ely_mondo_relaxed.owl Danubian endemic familial nephropathy|Chinese herb endemic nephropathy|DEFN|BEN|AAN|Balkan endemic nephropathy|aristolochic acid nephropathy|endemic nephropathy|nephropathia epidemica ICD10:N15.0|NCIT:C84584|OMIM:124100|ICD9:583.89|NCIT:C123025|UMLS:C0004698|GARD:0008576|SCTID:26121002|UMLS:C4049993|DOID:3052|EFO:0007164|MESH:D001449 owl:Class HGNC:3604 biolink:NamedThing FBN2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001257 biolink:NamedThing Spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. tmpte7i6ely_mondo_relaxed.owl Muscle spasticity|Muscular spasticity|Involuntary muscle stiffness, contraction, or spasm SNOMEDCT_US:221360009|SNOMEDCT_US:397790002|MSH:D009128|UMLS:C0026838 human_phenotype owl:Class CHEBI:35221 biolink:NamedThing antimetabolite A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. tmpte7i6ely_mondo_relaxed.owl antimetabolite|antimetabolites owl:Class MONDO:0006924 biolink:NamedThing Bartonellaceae infectious disease Infections with bacteria of the family bartonellaceae. tmpte7i6ely_mondo_relaxed.owl Bartonellaceae disease or disorder|Bartonellaceae infection|Bartonellaceae caused disease or disorder|infection, Bartonellaceae|infections, Bartonellaceae MESH:D001476|UMLS:C0004773|EFO:1001125 owl:Class SO:0000054 biolink:NamedThing aneuploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004411 biolink:NamedThing proximal epiphysis of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017549 biolink:NamedThing humero-radio-ulnar synostosis, bilateral tmpte7i6ely_mondo_relaxed.owl humero-radio-ulnar fusion, bilateral Orphanet:295207|ICD10:Q74.0 owl:Class UBERON:0035847 biolink:NamedThing fibrocartilage enthesis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001495 biolink:NamedThing hematocele of tunica vaginalis testis Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele. tmpte7i6ely_mondo_relaxed.owl hematocele|male hematocele SCTID:66259004|UMLS:C1456400|MESH:D006398|UMLS:C0018931|DOID:12332 owl:Class GO:0090284 biolink:NamedThing positive regulation of protein glycosylation in Golgi Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpte7i6ely_mondo_relaxed.owl positive regulation of protein amino acid glycosylation in Golgi owl:Class NCBITaxon:131221 biolink:NamedThing Streptophytina tmpte7i6ely_mondo_relaxed.owl charophyte/embryophyte group|Charophyta/Embryophyta group GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012797 biolink:NamedThing otosclerosis 8 tmpte7i6ely_mondo_relaxed.owl otosclerosis 8|OTSC8 OMIM:612096|MESH:C567421|UMLS:C2677515 owl:Class MONDO:0032838 biolink:NamedThing neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES|NEDMABA OMIM:618622 owl:Class MONDO:0007169 biolink:NamedThing atherosclerosis susceptibility tmpte7i6ely_mondo_relaxed.owl Atherogenic lipoprotein phenotype|ATHS|atherosclerosis susceptibility OMIM:108725 owl:Class CHEBI:33249 biolink:NamedThing organyl group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. tmpte7i6ely_mondo_relaxed.owl organyl groups|organyl group|groupe organyle|grupo organilo|grupos organilo owl:Class MONDO:0009740 biolink:NamedThing neurofaciodigitorenal syndrome Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. tmpte7i6ely_mondo_relaxed.owl Freire-Maia Pinheiro Opitz syndrome|Freire Maia-Pinheiro-Opitz syndrome|neurofaciodigitorenal syndrome|Nfdr syndrome ICD10:Q87.8|UMLS:C0796088|OMIM:256690|GARD:0003964|Orphanet:2673|SCTID:725908007|MESH:C537388 https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome owl:Class GO:0004370 biolink:NamedThing glycerol kinase activity Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+). tmpte7i6ely_mondo_relaxed.owl glyceric kinase activity|glycerol kinase (phosphorylating)|ATP:glycerol 3-phosphotransferase activity|ATP:glycerol-3-phosphotransferase activity|glycerokinase activity|GK owl:Class GO:0009070 biolink:NamedThing serine family amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpte7i6ely_mondo_relaxed.owl serine family amino acid formation|serine family amino acid anabolism|serine family amino acid biosynthesis|serine family amino acid synthesis owl:Class MONDO:0005253 biolink:NamedThing high output heart failure High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal. tmpte7i6ely_mondo_relaxed.owl SCTID:10091002|Wikipedia:High-output_cardiac_failure|UMLS:C0221045|EFO:0003145 owl:Class MONDO:0021548 biolink:NamedThing total early-onset cataract tmpte7i6ely_mondo_relaxed.owl CCT|cataract, total congenital|cataract, total congenital with posterior sutural opacities in heterozygotes OMIM:616509|Orphanet:91492|Orphanet:98994|ICD10:Q12.0|OMIM:601547|GARD:0001159 owl:Class UBERON:0015147 biolink:NamedThing pinna hair tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003438 biolink:NamedThing combined small cell lung carcinoma A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. tmpte7i6ely_mondo_relaxed.owl combined type small cell carcinoma of lung|combined small cell carcinoma of the lung|combined small cell lung carcinoma|combined small cell lung cancer|mixed small cell and large cell carcinoma of the lung|combined type small cell lung carcinoma|combined small cell carcinoma of lung|small cell and large cell lung carcinoma|lung combined type small cell carcinoma|CSCLC|mixed small cell and large cell carcinoma of lung|mixed small cell and large cell lung carcinoma|small cell and large cell carcinoma of the lung|combined small cell and large cell lung carcinoma|combined small and large cell lung cancer|small cell and large cell carcinoma of lung|combined type small cell carcinoma of the lung|combined small and large cell lung carcinoma DOID:5421|UMLS:C1333125|ONCOTREE:CSCLC|ICDO:8045/3|NCIT:C9137 owl:Class MONDO:0018744 biolink:NamedThing oligodendroglial tumor Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). tmpte7i6ely_mondo_relaxed.owl oligodendroglial neoplasm|oligodendroglial tumor UMLS:C1335110|UMLS:CN205116|Orphanet:46484|NCIT:C6960 owl:Class MONDO:0005923 biolink:NamedThing Pneumocystis infectious disease Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. tmpte7i6ely_mondo_relaxed.owl Pneumocystis infection|infections, Pneumocystis UMLS:C0851886|MESH:D016720|EFO:0007447 owl:Class CL:0010003 biolink:NamedThing epithelial cell of alveolus of lung An epithelial cell that is part_of a alveolus of lung. tmpte7i6ely_mondo_relaxed.owl alveolus of lung epithelial cell May be merged with pneumocyte in future GOC:cjm owl:Class PCO:0000029 biolink:NamedThing multi-species collection of organisms A collection of organisms that consists of two or more organisms from at least two species. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014868 biolink:NamedThing developmental and epileptic encephalopathy, 38 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene. tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 38|DEE38|early infantile epileptic encephalopathy caused by mutation in ARV1|ARV1 early infantile epileptic encephalopathy|EIEE38|epileptic encephalopathy, early infantile, type 38|epileptic encephalopathy, early infantile, 38; EIEE38 DOID:0080417|UMLS:C4310762|OMIM:617020 owl:Class MONDO:0007985 biolink:NamedThing metatarsus varus, type 1 tmpte7i6ely_mondo_relaxed.owl metatarsus varus, type I MESH:C563585|UMLS:C1834968|OMIM:156520 owl:Class MONDO:0011087 biolink:NamedThing inflammatory bowel disease 2 An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 2|inflammatory bowel disease type 2|IBD2 MESH:C563310|DOID:0110900|UMLS:C1832321|OMIM:601458 owl:Class MONDO:0011100 biolink:NamedThing microcephaly, retinitis pigmentosa, and sutural cataract tmpte7i6ely_mondo_relaxed.owl microcephaly, retinitis pigmentosa, and sutural cataract UMLS:C1832214|MESH:C563296|OMIM:601537 owl:Class MONDO:0009149 biolink:NamedThing ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum ICD10:Q87.8|Orphanet:1812|MESH:C565605|OMIM:225040|UMLS:C1857053 owl:Class MONDO:0020736 biolink:NamedThing uncombable hair syndrome 1 tmpte7i6ely_mondo_relaxed.owl uncombable hair syndrome 1|UHS1|uncombable hair syndrome|pili trianguli Et canaliculi Orphanet:1410|UMLS:C0432347|OMIM:191480 owl:Class MONDO:0013040 biolink:NamedThing atypical hemolytic-uremic syndrome with MCP/CD46 anomaly tmpte7i6ely_mondo_relaxed.owl atypical HUS with MCP/CD46 anomaly|aHUS with MCP/CD46 anomaly|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|aHUS2|hemolytic uremic syndrome, atypical, susceptibility to, 2|susceptibility to atypical hemolytic uremic syndrome 2|AHUS, susceptibility to, 2|D-HUS with MCP/CD46 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 2|AHUS2 ICD10:D58.8|Orphanet:93576|Orphanet:2134|OMIM:612922 owl:Class MONDO:0008153 biolink:NamedThing progressive osseous heteroplasia A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. tmpte7i6ely_mondo_relaxed.owl poh|osseous heteroplasia, progressive|ectopic ossification familial type|ectopic ossification, familial|osteoma cutis|familial ectopic ossification SCTID:719271000|Orphanet:2762|MedDRA:10048902|MESH:C562735|GARD:0000109|UMLS:C0334041|DOID:0111535|OMIM:166350|ICD10:M61.5 https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia owl:Class HGNC:16243 biolink:NamedThing MYLK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015713 biolink:NamedThing idiopathic central precocious puberty tmpte7i6ely_mondo_relaxed.owl UMLS:C0342544|NCIT:C120372|ICD9:259.1|Orphanet:169615|ICD10:E22.8|SCTID:237817008 owl:Class MONDO:0017302 biolink:NamedThing qualitative or quantitative defects of troponin tmpte7i6ely_mondo_relaxed.owl Orphanet:284786 owl:Class UBERON:0034987 biolink:NamedThing lumbar nerve plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017406 biolink:NamedThing hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967|UMLS:CN203156 owl:Class MONDO:0011550 biolink:NamedThing fibromatosis, gingival, with hypertrichosis and intellectual disability tmpte7i6ely_mondo_relaxed.owl fibromatosis, gingival, with hypertrichosis and mental retardation|fibromatosis, gingival, with hypertrichosis and intellectual disability MESH:C565331|UMLS:C1854306|OMIM:605400 owl:Class HGNC:11557 biolink:NamedThing TAL2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4232 biolink:NamedThing GDNF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022735 biolink:NamedThing choroid plexus cyst tmpte7i6ely_mondo_relaxed.owl choroid plexus cyst|CPC - choroid plexus cyst SCTID:230790004|GARD:0001309|NCIT:C4351 https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst owl:Class MONDO:0060624 biolink:NamedThing neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter tmpte7i6ely_mondo_relaxed.owl NDAGSCW|neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter UMLS:C4540498|OMIM:617807 owl:Class MONDO:0041775 biolink:NamedThing intraoperative floppy iris syndrome tmpte7i6ely_mondo_relaxed.owl intraoperative floppy iris syndrome SCTID:418801006|UMLS:C1688637 owl:Class HGNC:9173 biolink:NamedThing POLA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020081 biolink:NamedThing macrophage or histiocytic tumor tmpte7i6ely_mondo_relaxed.owl UMLS:CN206983|Orphanet:98288 owl:Class GO:0051656 biolink:NamedThing establishment of organelle localization The directed movement of an organelle to a specific location. tmpte7i6ely_mondo_relaxed.owl establishment of organelle localisation owl:Class NCBITaxon:36734 biolink:NamedThing Unikaryonidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007993 biolink:NamedThing microgastria-limb reduction defect syndrome This syndrome is characterised by the association of microgastria with a limb reduction defect. tmpte7i6ely_mondo_relaxed.owl microgastria limb reduction defect|congenital microgastria and limb reduction defects|MLRD|microgastria-limb reduction defects association OMIM:156810|Orphanet:2538|ICD10:Q87.8|MESH:C537554|UMLS:C1834929|GARD:0003640 owl:Class MONDO:0010693 biolink:NamedThing nystagmus 1, congenital, X-linked Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene. tmpte7i6ely_mondo_relaxed.owl Nystagmus, congenital motor, 1|nystagmus 1, congenital, X-linked|Nystagmus 1, infantile, X-linked|NYS1|Nystagmus, infantile idiopathic, formerly|Nystagmus, infantile periodic alternating, X-linked|Nystagmus 1, congenital, X- linked|NYSTAGMUS 1, congenital, X-linked|FRMD7 congenital nystagmus|Xlpan|congenital nystagmus caused by mutation in FRMD7|Nystagmus, infantile idiopathic UMLS:C1839580|GARD:0002969|OMIM:310700 https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked owl:Class GO:0019232 biolink:NamedThing perception of rate of movement The series of events by which an organism senses the speed and direction of movement of the body and its parts. tmpte7i6ely_mondo_relaxed.owl kinesthesia owl:Class MONDO:0002615 biolink:NamedThing xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. tmpte7i6ely_mondo_relaxed.owl xanthomatosis (disease)|xanthelasmatosis|xanthomatosis xanthomatosis (disease) UMLS:C0043325|HP:0000991|DOID:3345|SCTID:63103006 owl:Class MONDO:0002899 biolink:NamedThing differentiating neuroblastoma A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells. tmpte7i6ely_mondo_relaxed.owl differentiating neuroblastoma DOID:4160|NCIT:C42048|UMLS:C1511934 owl:Class MONDO:0019307 biolink:NamedThing generalized junctional epidermolysis bullosa non-Herlitz type Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. tmpte7i6ely_mondo_relaxed.owl junctional epidermolysis bullosa, generalized intermediate|JEB, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|JEB-nH gen|junctional epidermolysis bullosa, Disentis type|GABEB|generalized junctional epidermolysis bullosa, non-Herlitz type|junctional epidermolysis bullosa generalisata mitis|generalized atrophic benign epidermolysis bullosa OMIM:226650|ICD10:Q81.8|GARD:0012922|DOID:0060738|Orphanet:79402|Orphanet:89840|SCTID:724225008 owl:Class GO:0002539 biolink:NamedThing prostaglandin production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl prostaglandin production involved in acute inflammatory response owl:Class GO:0002538 biolink:NamedThing arachidonic acid metabolite production involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. tmpte7i6ely_mondo_relaxed.owl arachidonic acid metabolite production involved in acute inflammatory response|production of arachidonic acid metabolites involved in acute inflammatory response|production of arachidonic acid metabolites involved in inflammatory response owl:Class MONDO:0008753 biolink:NamedThing alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). tmpte7i6ely_mondo_relaxed.owl homogentisic acidura|homogentisate 1,2-dioxygenase deficiency|ochronosis, hereditary|hereditary ochronosis|alcaptonuria|alkaptonuric ochronosis|aku|homogentisic acid oxidase deficiency|alkaptonuria|deficiency of homogentisicase NCIT:C84546|UMLS:C2931645|ICD10:E70.2|MedDRA:10001689|DOID:9270|GARD:0005775|MESH:D000474|OMIM:203500|UMLS:C0002066|ICD10:E70.29|ICD9:270.2|SCTID:360378009|Orphanet:56 https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria owl:Class MONDO:0011322 biolink:NamedThing Oroacral syndrome, Verloes-Koulischer type tmpte7i6ely_mondo_relaxed.owl Oroacral syndrome, Verloes-Koulischer type OMIM:603446|MESH:C566374|UMLS:C1863879 owl:Class MONDO:0006721 biolink:NamedThing de Quervain disease Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. tmpte7i6ely_mondo_relaxed.owl tenosynovitis, de Quervain's|radial styloid tenosynovitis SCTID:21794005|DOID:14107|MESH:D053684|ICD9:727.04|UMLS:C0149870|ICD10:M65.4|EFO:1000891 owl:Class MONDO:0012353 biolink:NamedThing erythrocytosis, familial, 3 Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene. tmpte7i6ely_mondo_relaxed.owl EGLN1 familial polycythemia|ECYT3|erythrocytosis, familial, 3|familial polycythemia caused by mutation in EGLN1|erythrocytosis, familial, type 3 Orphanet:247511|UMLS:C1853286|MESH:C565221|DOID:0080338|OMIM:609820 owl:Class MONDO:0003372 biolink:NamedThing vulvar leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of mammalian vulva|mammalian vulva leiomyosarcoma DOID:5286|UMLS:C2168304|EFO:1001975|NCIT:C40318 owl:Class UBERON:0010222 biolink:NamedThing anatomical line between pupils tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018603 biolink:NamedThing interstitial lung disease due to SP-C deficiency tmpte7i6ely_mondo_relaxed.owl interstitial lung disease due to surfactant protein C deficiency Orphanet:440392|OMIM:610913|UMLS:CN237633|ICD10:J84.8 owl:Class ENVO:02500031 biolink:NamedThing hydrological process An environmental process which has water - in any of its states - as a participant. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010022 biolink:NamedThing senile plaque formation tmpte7i6ely_mondo_relaxed.owl senile plaque formation OMIM:269800 owl:Class HGNC:11727 biolink:NamedThing TERC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012098 biolink:NamedThing spinocerebellar ataxia type 20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation. tmpte7i6ely_mondo_relaxed.owl chromosome 11q12 duplication syndrome, 260-Kb|SCA20|spinocerebellar ataxia with spasmodic cough|spinocerebellar ataxia with dysphonia|spinocerebellar ataxia 20|spinocerebellar ataxia type 20 Orphanet:101110|OMIM:608687|UMLS:C1837541|MESH:C537199|ICD10:G11.2|SCTID:718771009|GARD:0009997|DOID:0050971 owl:Class MONDO:0015746 biolink:NamedThing male infertility due to globozoospermia Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent. tmpte7i6ely_mondo_relaxed.owl Male infertility due to round-headed spermatozoa|round-headed sperm syndrome|male infertility due to globozoospermia|male infertility due to round-headed spermatozoa|globozoospermia OMIM:613958|ICD10:N46|DOID:0111156|GARD:0012502|Orphanet:171709|OMIM:102530 owl:Class CL:0002116 biolink:NamedThing B220-low CD38-positive unswitched memory B cell A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002115 biolink:NamedThing B220-positive CD38-positive unswitched memory B cell A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0030514 biolink:NamedThing leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl HLD23 OMIM:619688 owl:Class MONDO:0006894 biolink:NamedThing patellofemoral pain syndrome A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome. tmpte7i6ely_mondo_relaxed.owl UMLS:C0877149|SCTID:430725003|EFO:1001092|MedDRA:10049143|DOID:14284|MESH:D046788 owl:Class MONDO:0008562 biolink:NamedThing thumb deformity-alopecia-pigmentation anomaly syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|thumb deformity, alopecia, pigmentation anomaly|congenital deformity of the thumb and congenital alopecia|hypotrichosis associated with congenital hypoplasia of the thumb|thumb deformity and alopecia OMIM:188150|Orphanet:2251|UMLS:C2931366|MESH:C566054|GARD:0005199 owl:Class UBERON:0012125 biolink:NamedThing dermatological-muscosal system tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008841 biolink:NamedThing ataxia-telangiectasia with generalized skin pigmentation and early death tmpte7i6ely_mondo_relaxed.owl ataxia-telangiectasia with generalized skin pigmentation and early death OMIM:208910|MESH:C565930|UMLS:C1859615|Orphanet:100 owl:Class MONDO:0008462 biolink:NamedThing split lower lip tmpte7i6ely_mondo_relaxed.owl split lower lip|split Lower type lip OMIM:183400 owl:Class GO:0060764 biolink:NamedThing cell-cell signaling involved in mammary gland development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure. tmpte7i6ely_mondo_relaxed.owl cell-cell signalling involved in mammary gland development owl:Class MONDO:0000968 biolink:NamedThing kidney lipoma A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. tmpte7i6ely_mondo_relaxed.owl renal lipoma|lipoma of the kidney|lipoma of kidney|kidney lipoma DOID:10194|UMLS:C1335744|NCIT:C5101 owl:Class MONDO:0004618 biolink:NamedThing diplegia of upper limb tmpte7i6ely_mondo_relaxed.owl diplegia, upper|diplegia of upper limbs ICD9:344.2|SCTID:54099005|DOID:862|ICD10:G83.0|UMLS:C0154701 owl:Class MONDO:0012462 biolink:NamedThing autosomal recessive frontotemporal pachygyria tmpte7i6ely_mondo_relaxed.owl pachygyria, frontotemporal OMIM:610279|Orphanet:329329|MESH:C538092|ICD10:Q04.3|UMLS:C1853215|GARD:0010003 owl:Class HGNC:29561 biolink:NamedThing ARV1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002582 biolink:NamedThing subacute leukemia A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. tmpte7i6ely_mondo_relaxed.owl SCTID:302855005|ICD9:208.20|UMLS:C0153924|ICD9:208.2|DOID:3264 owl:Class MONDO:0006109 biolink:NamedThing malignant biphasic mesothelioma A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features. tmpte7i6ely_mondo_relaxed.owl mesothelioma, biphasic, malignant (morphologic abnormality)|malignant mixed mesothelioma|mesothelioma, biphasic, malignant|malignant biphasic mesothelioma, malignant|biphasic mesothelioma|malignant biphasic mesothelioma|mixed mesothelioma EFO:1000124|ICDO:9053/3|NCIT:C4282|DOID:4486|UMLS:C0334515 owl:Class GO:1901856 biolink:NamedThing negative regulation of cellular respiration Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration. tmpte7i6ely_mondo_relaxed.owl negative regulation of respiration|down-regulation of respiration|inhibition of oxidative metabolism|down regulation of cellular respiration|downregulation of oxidative metabolic process|negative regulation of oxidative metabolism|down regulation of oxidative metabolism|inhibition of cellular respiration|down regulation of respiration|down-regulation of oxidative metabolic process|inhibition of oxidative metabolic process|inhibition of respiration|downregulation of respiration|down-regulation of oxidative metabolism|down regulation of oxidative metabolic process|downregulation of oxidative metabolism|negative regulation of oxidative metabolic process|downregulation of cellular respiration|down-regulation of cellular respiration owl:Class MONDO:0044092 biolink:NamedThing collagenous sprue A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. tmpte7i6ely_mondo_relaxed.owl collagenous enteropathy syndrome|non-gluten intolerance syndrome|Sprues, collagenous|collagenous sprue|sprue, collagenous|non-gluten sensitive enteropathy syndrome|collagenous Sprues|collagenous enteropathy MESH:D064068|UMLS:C0341299|SCTID:61738006|NCIT:C45426 owl:Class MONDO:0006755 biolink:NamedThing euthyroid sick syndrome Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. tmpte7i6ely_mondo_relaxed.owl sick euthyroid syndrome|euthyroid sick syndrome|sick-euthyroid syndrome MESH:D005067|SCTID:237542005|MedDRA:10015549|UMLS:C0015190|ICD9:790.94|EFO:1000931|ICD10:E07.81|NCIT:C113170|DOID:2856 owl:Class UBERON:0022360 biolink:NamedThing male mammary gland duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003936 biolink:NamedThing invasive tubular breast carcinoma An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium. tmpte7i6ely_mondo_relaxed.owl invasive tubular carcinoma of breast|infiltrating tubular carcinoma of breast|tubular carcinoma of the breast|tubular breast carcinoma|breast tubular adenocarcinoma|invasive tubular breast carcinoma|invasive tubular carcinoma of the breast|tubular carcinoma of breast|infiltrating tubular carcinoma of the breast|tubular breast cancer|infiltrating tubular breast carcinoma NCIT:C9135|DOID:6587|UMLS:C1328544 owl:Class MONDO:0024493 biolink:NamedThing tumor grade 3, general grading system A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. tmpte7i6ely_mondo_relaxed.owl high grade|grade III|G3|grade 3|poorly differentiated NCIT:C28079|UMLS:C0475271 owl:Class NCBITaxon:51028 biolink:NamedThing Enterobius vermicularis tmpte7i6ely_mondo_relaxed.owl human pinworm GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:51027 biolink:NamedThing Enterobius tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018716 biolink:NamedThing partially involuting congenital hemangioma A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion tmpte7i6ely_mondo_relaxed.owl PICH Orphanet:458785|ICD10:D18.0 owl:Class MONDO:0001472 biolink:NamedThing testicular lymphoma A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. tmpte7i6ely_mondo_relaxed.owl TLYM|malignant lymphoma of testis|lymphoma of testis|lymphoma of the testis|testicular lymphoma|primary testicular lymphoma UMLS:C0349644|ICD9:186.9|ONCOTREE:TLYM|NCIT:C6810|SCTID:277664004|DOID:12253 owl:Class MONDO:0002252 biolink:NamedThing granulomatous hepatitis Hepatitis that is characterized by the presence of granulomas. tmpte7i6ely_mondo_relaxed.owl NCIT:C27015|SCTID:86514004|UMLS:C0235369|DOID:2239 owl:Class GO:0035774 biolink:NamedThing positive regulation of insulin secretion involved in cellular response to glucose stimulus Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpte7i6ely_mondo_relaxed.owl positive regulation of insulin secretion in response to glucose owl:Class MONDO:0020812 biolink:NamedThing exposure, dental pulp The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. tmpte7i6ely_mondo_relaxed.owl PULP EXPOSURE DENT|Dental Pulp Exposure|Pulp Exposure, Dental|Exposure of tooth pulp|Exposure, Dental Pulp|DENT PULP EXPOSURE|EXPOSURE DENT PULP UMLS:C0011406|MESH:D003789|EFO:1001782 owl:Class CHEBI:83403 biolink:NamedThing monochlorobenzenes Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0004408 biolink:NamedThing Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). tmpte7i6ely_mondo_relaxed.owl Smell defect|Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell UMLS:C4021655 peter 2008-03-18T09:21:00Z HP:0004410 human_phenotype owl:Class UBERON:0001743 biolink:NamedThing ligament of larynx tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019473 biolink:NamedThing enteropathy-associated T-cell lymphoma An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease. tmpte7i6ely_mondo_relaxed.owl high-grade pleomorphic peripheral T-cell lymphoma|EATL, type I|EATL|ETTL|intestinal T-cell lymphoma|EATCL|enteropathy associated T-cell lymphoma|enteropathy-type T-cell lymphoma|enteropathy-associated T-cell lymphoma, type I MESH:D058527|ONCOTREE:EATL|ICD9:202.70|Orphanet:86880|ICDO:9717/3|ICD10:C86.2|GARD:0009809|SCTID:277654008|UMLS:C0456889|NCIT:C4737|MedDRA:10022703 Editor note: consider moving ORDO class to SI subclass https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma owl:Class MONDO:0004239 biolink:NamedThing cervical keratinizing squamous cell carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. tmpte7i6ely_mondo_relaxed.owl cervical keratinizing squamous cell carcinoma DOID:7483|NCIT:C40187|UMLS:C1517658 owl:Class MONDO:0018260 biolink:NamedThing scalp syndrome tmpte7i6ely_mondo_relaxed.owl sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome ICD10:Q84.8|Orphanet:370052 owl:Class GO:0070564 biolink:NamedThing positive regulation of vitamin D receptor signaling pathway Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity. tmpte7i6ely_mondo_relaxed.owl upregulation of vitamin D receptor signaling pathway|stimulation of vitamin D receptor signaling pathway|positive regulation of vitamin D receptor signalling pathway|up-regulation of vitamin D receptor signaling pathway|positive regulation of VDR signaling pathway|activation of vitamin D receptor signaling pathway|up regulation of vitamin D receptor signaling pathway owl:Class MONDO:0030864 biolink:NamedThing Ritscher-Schinzel syndrome 3 tmpte7i6ely_mondo_relaxed.owl Ritscher-Schinzel syndrome 3|RTSC3 OMIM:619135 owl:Class CHEBI:33710 biolink:NamedThing alpha-amino-acid residue tmpte7i6ely_mondo_relaxed.owl alpha-amino-acid residues owl:Class MONDO:0007499 biolink:NamedThing ear folding tmpte7i6ely_mondo_relaxed.owl ear folding OMIM:128500 owl:Class MONDO:0032888 biolink:NamedThing neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies tmpte7i6ely_mondo_relaxed.owl NEDBAVC|NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES OMIM:618731 owl:Class MONDO:0005758 biolink:NamedThing eunuchism The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. tmpte7i6ely_mondo_relaxed.owl Male hypergonadotropic hypogonadism|Primary testicular failure|hypergonadotropic hypogonadism (Male) UMLS:C0238117|EFO:0007266|ICD9:257.2|MESH:D005058|NCIT:C131195|DOID:5003|SCTID:267403002 owl:Class GO:0061311 biolink:NamedThing cell surface receptor signaling pathway involved in heart development Any series of molecular signals initiated by the binding of a receptor on the surface of a cell to a physiological ligand, which contributes to the progression of the heart over time. tmpte7i6ely_mondo_relaxed.owl cell surface receptor linked signalling pathway involved in heart development|cell surface receptor linked signaling pathway involved in heart development owl:Class MONDO:0016522 biolink:NamedThing Kousseff syndrome A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. tmpte7i6ely_mondo_relaxed.owl sacral meningocele conotruncal heart defects|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck UMLS:C2931444|MESH:C537223|GARD:0004752|SCTID:726083008|Orphanet:2351|ICD10:Q87.8 owl:Class HP:0001959 biolink:NamedThing Polydipsia Excessive thirst manifested by excessive fluid intake. tmpte7i6ely_mondo_relaxed.owl Extreme thirst MSH:D059606|SNOMEDCT_US:267026004|SNOMEDCT_US:17173007|UMLS:C0085602 human_phenotype owl:Class MONDO:0000813 biolink:NamedThing cardiac tuberculosis Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium. tmpte7i6ely_mondo_relaxed.owl cardiovascular tuberculosis DOID:0060570|UMLS:C0041308|MESH:D014381|EFO:1001442 owl:Class HGNC:17019 biolink:NamedThing PRICKLE1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005616 biolink:NamedThing mesenteric artery tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:41012 biolink:NamedThing Tineidae tmpte7i6ely_mondo_relaxed.owl clothes-moths|fungus moths|clothes moths GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004862 biolink:NamedThing vitreous abscess tmpte7i6ely_mondo_relaxed.owl DOID:9723|SCTID:48142003|UMLS:C0042904|ICD9:360.04 owl:Class MONDO:0006984 biolink:NamedThing subdural empyema An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. tmpte7i6ely_mondo_relaxed.owl subdural abscess EFO:1001196|MedDRA:10042360|DOID:11389|SCTID:37660004|MESH:D013354|UMLS:C0038539 owl:Class MONDO:0019508 biolink:NamedThing van der Woude syndrome Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. tmpte7i6ely_mondo_relaxed.owl cleft lip/palate with mucous cysts of lower lip|lip pit syndrome|lip-pit syndrome|cleft lip and/or palate with mucous cysts of lower lip|VWS|LPS MESH:C536528|SCTID:79261008|OMIM:604547|NCIT:C74986|Orphanet:888|DOID:0060239|GARD:0008414|ICD10:Q38.0|OMIM:606713|ICD9:744.89|UMLS:C0175697|OMIM:119300 owl:Class HP:0002435 biolink:NamedThing Meningocele Protrusion of the meninges through a defect of the vertebral column. tmpte7i6ely_mondo_relaxed.owl MSH:D008588|SNOMEDCT_US:171131006|UMLS:C0025299 human_phenotype owl:Class HP:0002414 biolink:NamedThing Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. tmpte7i6ely_mondo_relaxed.owl Split spine Fyler:4157|SNOMEDCT_US:67531005|UMLS:C0080178|MSH:D016135 human_phenotype owl:Class HGNC:461 biolink:NamedThing AMELX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021002 biolink:NamedThing syndactyly A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms. tmpte7i6ely_mondo_relaxed.owl syndactyly (disease) syndactyly (disease) ICD10:Q70.3|UMLS:C0039075|OMIM:186200|ICD10:Q70.2|MedDRA:10042778|OMIM:185900|ICD10:Q70.0|OMIM:186300|HP:0001159|DOID:11193|ICD10:Q70.1|ICD10:Q70.9|NCIT:C87125|ICD9:755.1|ICD10:Q70|ICD10:Q70.4|OMIM:186100 https://github.com/monarch-initiative/mondo/issues/4051 owl:Class MONDO:0033564 biolink:NamedThing oocyte maturation defect 8 tmpte7i6ely_mondo_relaxed.owl OOMD8|OOCYTE MATURATION DEFECT 8 OMIM:619009 owl:Class MONDO:0012566 biolink:NamedThing autism, susceptibility to, 11 tmpte7i6ely_mondo_relaxed.owl AUTS11|autism, susceptibility to, 11 OMIM:610836 owl:Class CL:0000529 biolink:NamedThing pigmented epithelial cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0015717 biolink:NamedThing mild hemophilia B Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpte7i6ely_mondo_relaxed.owl mild factor IX deficiency|mild hemophilia type B UMLS:CN200229|Orphanet:169799|ICD10:D67 owl:Class CL:2000012 biolink:NamedThing fibroblast of pedal digit skin Any skin fibroblast that is part of a pedal digit skin. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:16:44Z cell owl:Class MONDO:0006459 biolink:NamedThing thymoma type B1 A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors. tmpte7i6ely_mondo_relaxed.owl lymphocyte-rich thymoma|predominantly cortical thymoma|lymphocyte-predominant thymoma|thymoma type B1|thymoma, organoid|organoid thymoma NCIT:C6887|ICDO:8583/1|UMLS:C1266094|DOID:6917|EFO:1000584 MONDO:0004036 owl:Class MONDO:0010209 biolink:NamedThing xanthinuria type I A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. tmpte7i6ely_mondo_relaxed.owl xanthine oxidase deficiency|type 1 xanthinuria|hereditary xanthinuria, type I|xanthinuria type 1|isolated xanthine oxidase deficiency|xanthinuria, type I|xanthine dehydrogenase deficiency|XAN1|xanthinuria, type 1|XDH deficiency|xanthine oxidoreductase deficiency|XOR deficiency|XO deficiency|xanthinuria type I GARD:0005621|Orphanet:3467|SCTID:72682008|OMIM:278300|ICD10:E79.8|MESH:C562584|Orphanet:93601 owl:Class MONDO:0002338 biolink:NamedThing extratemporal epilepsy An epilepsy syndrome that is located in an area of the brain other than the temporal lobe. tmpte7i6ely_mondo_relaxed.owl extratemporal epilepsy SCTID:111498005|UMLS:C0270849|NCIT:C7760|DOID:2544|ICD9:345.80 owl:Class CHEBI:37332 biolink:NamedThing tropane alkaloid tmpte7i6ely_mondo_relaxed.owl tropane alkaloids owl:Class NCBITaxon:1759442 biolink:NamedThing Trichosporonaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007204 biolink:NamedThing brachiocephalic vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006452 biolink:NamedThing thymic sarcomatoid carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. tmpte7i6ely_mondo_relaxed.owl thymic carcinosarcoma|sarcomatoid carcinoma of Thymus|thymic spindle cell carcinoma|Thymus sarcomatoid carcinoma|thymic sarcomatoid carcinoma|sarcomatoid carcinoma of the Thymus|thymus sarcomatoid carcinoma DOID:8138|UMLS:C1335924|EFO:1000577|NCIT:C6463 owl:Class HGNC:21308 biolink:NamedThing ELOVL5 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000186 biolink:NamedThing myofibroblast cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. tmpte7i6ely_mondo_relaxed.owl MFB Myofibroblasts are alpha-SMA-positive, CD34-negative, CD45-negative. They are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha. cell owl:Class MONDO:0020920 biolink:NamedThing escherichia coli infection Infection with the organism Escherichia Coli. tmpte7i6ely_mondo_relaxed.owl e coli infection|E Coli Infection|escherichia coli infection|Infection, Escherichia coli|Bacterial infection caused by E. coli|Escherichia coli Infections|Escherichia coli Infection|E. coli infection|E coli Infection|Bacterial infection due to E. coli|Infection caused by Escherichia coli|E coli Infections|Escherichia coli infection|ESCHERICHIA COLI INFECT|Infections, Escherichia coli|Infection due to Escherichia coli|Infections, E coli|INFECT E COLI|E COLI INFECT|Infection, E. coli|E. coli Infection|E coli infections|Colibacillosis|Infection, E coli|Escherichia Coli Infection|INFECT ESCHERICHIA COLI|Recurrent E. coli infections|E. coli Infections|E coli infections, recurrent MESH:D004927|GTR:AN0485755|NCIT:C34594|SCTID:71057007|GTR:AN0474198|EFO:1001318|GTR:AN0485754|UMLS:C0014836|HP:0002740 owl:Class MONDO:0021367 biolink:NamedThing leukemia, myeloid, accelerated-phase The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis. tmpte7i6ely_mondo_relaxed.owl Accelerated Phase Chronic Myeloid Leukemia|Leukemia, Myeloid, Aggressive-Phase|Aggressive-Phase Chronic Myelocytic Leukemia|Aggressive-Phase Chronic Myelogenous Leukemia|Leukemia, Myelogenous, Aggressive-Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|CML ACCELERATED|Accelerated Phase Chronic Myelogenous Leukemia|Leukemia, Myelogenous, Aggressive Phase|Aggressive-Phase CML|Myeloid Leukemia, Chronic, Aggressive-Phase|Leukemia, Myeloid, Accelerated-Phase|Accelerated Phase CML|Accelerated Phase Chronic Myelocytic Leukemia|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Aggressive-Phase Chronic Myeloid Leukemia|Myeloid Leukemia, Chronic, Aggressive Phase|Accelerated phase chronic myeloid leukemia|Myeloid Leukemia, Chronic, Accelerated-Phase|Accelerated Phase Chronic Granulocytic Leukemia|Leukemia, Myeloid, Accelerated Phase|Myelogenous Leukemia, Chronic, Aggressive-Phase|Myeloid Leukemia, Chronic, Accelerated Phase|CML AGGRESSIVE MESH:D015465|UMLS:C0023472|EFO:1001755 owl:Class GO:0015926 biolink:NamedThing glucosidase activity Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032922 biolink:NamedThing Beck-Fahrner syndrome tmpte7i6ely_mondo_relaxed.owl BECK-FAHRNER SYNDROME|BEFAHRS OMIM:618798 owl:Class NCBITaxon:310911 biolink:NamedThing Amdoparvovirus tmpte7i6ely_mondo_relaxed.owl Amdovirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043103 biolink:NamedThing hypothyroidism due to iodide transport defect A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. tmpte7i6ely_mondo_relaxed.owl hypothyroidism due to iodide concentration defect|iodide transport defect|iodine transport defect|iodide transport failure|hypothyroidism due to iodide transport defect|iodine accumulation defect|iodide Transport defect GARD:0002938|SCTID:22558005|NCIT:C121747|UMLS:C0271826 owl:Class CHEBI:35488 biolink:NamedThing central nervous system depressant A loosely defined group of drugs that tend to reduce the activity of the central nervous system. tmpte7i6ely_mondo_relaxed.owl central nervous system depressants|CNS depressants owl:Class MONDO:0008993 biolink:NamedThing cleft palate-stapes fixation-oligodontia syndrome Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. tmpte7i6ely_mondo_relaxed.owl cleft palate stapes fixation oligodontia|cleft palate, deafness, and oligodontia ICD10:Q87.8|MESH:C565844|OMIM:216300|UMLS:C1859081|GARD:0001393|Orphanet:2010 https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia owl:Class MONDO:0017039 biolink:NamedThing drug or radiation exposure-related interstitial lung disease tmpte7i6ely_mondo_relaxed.owl ICD10:J70.1|ICD10:J70.4|ICD10:J70.3|ICD10:J70.2|ICD10:J70.0|UMLS:CN202350|Orphanet:264978 owl:Class MONDO:0012344 biolink:NamedThing Alzheimer disease 11 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. tmpte7i6ely_mondo_relaxed.owl Alzheimer disease type 11|Alzheimer disease, familial, 11|AD11|Ad11|Alzheimer disease 11|Alzheimer's disease type 11|Alzheimer's disease 11 ICD10:G30|OMIM:609790|MESH:C565228|UMLS:C1853360|DOID:0110044 owl:Class GO:0009450 biolink:NamedThing gamma-aminobutyric acid catabolic process The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. tmpte7i6ely_mondo_relaxed.owl gamma-aminobutyric acid degradation|4-aminobutanoate catabolic process|4-aminobutyrate catabolic process|4-aminobutyrate catabolism|GABA catabolic process|4-aminobutanoate catabolism|gamma-aminobutyric acid catabolism|GABA catabolism|gamma-aminobutyric acid breakdown owl:Class MONDO:0012910 biolink:NamedThing age-related hearing impairment 1 tmpte7i6ely_mondo_relaxed.owl ARHI1|presbycusis 1|age-related hearing impairment 1 OMIM:612448|MESH:C567305|UMLS:C2676230 owl:Class MONDO:0019759 biolink:NamedThing epispadias Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. tmpte7i6ely_mondo_relaxed.owl epispadias (disease)|epispadias epispadias (disease) ICD9:752.62|MedDRA:10015088|NCIT:C98923|HP:0000039|Orphanet:93928|UMLS:C0014588|ICD10:Q64.0|MESH:D004842|SCTID:406476007|UMLS:CN227686 https://github.com/monarch-initiative/mondo/issues/3650 owl:Class HGNC:288 biolink:NamedThing ADRB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009980 biolink:NamedThing retinal telangiectasia and hypogammaglobulinemia tmpte7i6ely_mondo_relaxed.owl retinal telangiectasia and hypogammaglobulinemia|Frenkel Russe syndrome|retinal telangiectasia associated with hypogammaglobulinemia MESH:C535638|OMIM:267900|UMLS:C2930961|GARD:0002383 owl:Class GO:0019902 biolink:NamedThing phosphatase binding Binding to a phosphatase. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4313 biolink:NamedThing GLDC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011372 biolink:NamedThing microcephaly with simplified gyral pattern tmpte7i6ely_mondo_relaxed.owl microcephaly with simplified gyral pattern MESH:C566332|OMIM:603802|UMLS:C1863516 owl:Class GO:0016050 biolink:NamedThing vesicle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. tmpte7i6ely_mondo_relaxed.owl vesicle organisation|vesicle organization and biogenesis owl:Class HGNC:7190 biolink:NamedThing MOCS1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:34105 biolink:NamedThing Streptobacillus moniliformis tmpte7i6ely_mondo_relaxed.owl Haverhillia multiformis|Actinomyces muris ratti|Nocardia muris|"Actinobacillus muris" (de Mello and Pais 1918) Wilson and Miles 1955|Streptothrix muris ratti|Haverhillia moniliformis|Asterococcus muris|Actinomyces muris|Proactinomyces muris PMID:25858245|GC_ID:11|PMID:24912824 ncbi_taxonomy owl:Class NCBITaxon:34104 biolink:NamedThing Streptobacillus tmpte7i6ely_mondo_relaxed.owl Haverhillia PMID:25858245|GC_ID:11|PMID:26438009|PMID:24912824 ncbi_taxonomy owl:Class MONDO:0013637 biolink:NamedThing primary biliary cholangitis 5 tmpte7i6ely_mondo_relaxed.owl biliary cirrhosis, primary, 5|PBC5 UMLS:C3280202|OMIM:614221|Orphanet:186 owl:Class MONDO:0022785 biolink:NamedThing cleft palate cardiac defect ectrodactyly tmpte7i6ely_mondo_relaxed.owl GARD:0001387 https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly owl:Class MONDO:0013318 biolink:NamedThing early repolarization associated with ventricular fibrillation tmpte7i6ely_mondo_relaxed.owl early repolarization syndrome|early repolarization associated with ventricular fibrillation OMIM:613601|UMLS:C3150852 owl:Class MONDO:0006559 biolink:NamedThing hidradenitis suppurativa A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. tmpte7i6ely_mondo_relaxed.owl acne inversa|ectopic acne|acne inversa, familial|fox den disease|hidradenitis suppurativa|verneuil disease|pyoderma fistulans significa ICD10:L73.2|DOID:2280|EFO:1000710|OMIM:613736|SCTID:59393003|OMIM:613737|GARD:0006658|DOID:2282|Orphanet:387|MESH:D017497|UMLS:C0162836|OMIM:142690|Wikipedia:Hidradenitis_suppurativa owl:Class MONDO:0004181 biolink:NamedThing breast adenomyoepithelial adenosis An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present. tmpte7i6ely_mondo_relaxed.owl UMLS:C1511283|NCIT:C40391|DOID:7312 owl:Class MONDO:0003969 biolink:NamedThing amphetamine abuse Disorders related or resulting from use of amphetamines. tmpte7i6ely_mondo_relaxed.owl DOID:670|SCTID:84758004|ICD9:305.70|MESH:D019969|ICD9:305.7 owl:Class MONDO:0003599 biolink:NamedThing vulvar liposarcoma A rare malignant adipose tissue neoplasm of the vulva. tmpte7i6ely_mondo_relaxed.owl liposarcoma of mammalian vulva|mammalian vulva liposarcoma|vulvar liposarcoma UMLS:C2184082|DOID:5711|NCIT:C40321 owl:Class MONDO:0016819 biolink:NamedThing Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl UMLS:C2931024|Orphanet:2560 owl:Class HGNC:7975 biolink:NamedThing NR2F1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100321 biolink:NamedThing viral disease or post-viral disorder A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself. tmpte7i6ely_mondo_relaxed.owl viral infectious disease or sequela http://orcid.org/0000-0001-5208-3432 owl:Class HP:0001718 biolink:NamedThing Mitral stenosis An abnormal narrowing of the orifice of the mitral valve. tmpte7i6ely_mondo_relaxed.owl Mitral valve stenosis MSH:D008946|UMLS:C0026269|EPCC:06.02.92|Fyler:1511|ICD-10:Q23.2|SNOMEDCT_US:79619009 HP:0005163 human_phenotype owl:Class HP:0031481 biolink:NamedThing Abnormal mitral valve physiology Any functional anomaly of the mitral valve. tmpte7i6ely_mondo_relaxed.owl 2017-09-17 22:37:40+00:00 peter human_phenotype owl:Class MONDO:0020337 biolink:NamedThing congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. tmpte7i6ely_mondo_relaxed.owl dyserythropoietic anemia, congenital type 1|congenital dyserythropoietic anemia type 1|type I congenital dyserythropoietic anemia|CDA type 1|CDA type I|anemia, dyserythropoietic, congenital type 1|CDA I DOID:0111396|OMIM:615631|ICD10:D64.4|SCTID:59548005|GARD:0002000|OMIM:224120|Orphanet:98869 owl:Class MONDO:0008113 biolink:NamedThing Schilbach-Rott syndrome Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. tmpte7i6ely_mondo_relaxed.owl Schilbach-Rott syndrome|BRSS|cleft palate, hypotelorism, and hypospadias|ocular hypotelorism, submucosal cleft palate, and hypospadias|blepharofacioskeletal syndrome|hypotelorism cleft palate hypospadias|hypotelorism-cleft palate-hypospadias syndrome GARD:0002930|ICD10:Q87.8|Orphanet:2353|MESH:C563509|OMIM:164220|SCTID:721902002 https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias owl:Class ECTO:7000122 biolink:NamedThing exposure to sea water A exposure event involving the interaction of an exposure receptor to sea water. tmpte7i6ely_mondo_relaxed.owl sea water exposure owl:Class ECTO:7000063 biolink:NamedThing exposure to water in environment A exposure event involving the interaction of an exposure receptor to liquid water. tmpte7i6ely_mondo_relaxed.owl liquid water exposure owl:Class MONDO:0010737 biolink:NamedThing spondyloepiphyseal dysplasia tarda, X-linked X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia, late|spondyloepiphyseal dysplasia tarda X-linked|Sed tarda, X-linked|SEDT|SED|X-linked spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia tarda, X-linked|X linked spondyloepiphyseal dysplasia tarda OMIM:313400|Orphanet:93284|GARD:0004985 https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked owl:Class MONDO:0017384 biolink:NamedThing acute generalized exanthematous pustulosis A widespread acute rash characterized by fever and multiple small pustules on a reddish background. tmpte7i6ely_mondo_relaxed.owl toxic pustuloderma|pustular drug eruption|AGEP Orphanet:293173|MedDRA:10048799|SCTID:702617007|UMLS:C0877055|MESH:D056150|NCIT:C112122|ICD9:709.8 owl:Class MONDO:0006866 biolink:NamedThing neonatal myasthenia gravis A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) tmpte7i6ely_mondo_relaxed.owl neonatal myasthenia gravis SCTID:82178003|EFO:1001059|MedDRA:10028963|MESH:D020941|ICD9:775.2|DOID:14043 owl:Class MONDO:0009119 biolink:NamedThing diverticulosis, small-intestinal tmpte7i6ely_mondo_relaxed.owl diverticulosis, small-intestinal MESH:C565620|UMLS:C1857228|OMIM:223320 owl:Class GO:2000065 biolink:NamedThing negative regulation of cortisol biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of cortisol biosynthesis|negative regulation of cortisol formation|negative regulation of cortisol anabolism|negative regulation of cortisol synthesis owl:Class MONDO:0018323 biolink:NamedThing HSD10 disease, neonatal type HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. tmpte7i6ely_mondo_relaxed.owl MHBD deficiency, neonatal type|2-methyl-3-hydroxybutyric aciduria, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type|HSD10 deficiency, neonatal type Orphanet:391457|OMIM:300438|UMLS:CN204975|ICD10:E72.8 owl:Class MONDO:0020850 biolink:NamedThing intellectual disability, autosomal recessive 65 tmpte7i6ely_mondo_relaxed.owl MRT65|intellectual disability, autosomal recessive 65|mental retardation, autosomal recessive 65 OMIM:618109 owl:Class MONDO:0017246 biolink:NamedThing extralobar congenital pulmonary sequestration tmpte7i6ely_mondo_relaxed.owl extralobar congenital bronchopulmonary sequestration|congenital extrapulmonary sequestration Orphanet:280811|ICD10:Q33.2 owl:Class NCBITaxon:51026 biolink:NamedThing Oxyuridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010896 biolink:NamedThing pigment dispersion syndrome Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. tmpte7i6ely_mondo_relaxed.owl pigment dispersion syndrome|glaucoma-RELATED pigment dispersion syndrome|pigment-dispersion type glaucoma|glaucoma, pigment-dispersion type|glaucoma-related pigment dispersion syndrome|GPDS1|pigment-dispersion syndrome GARD:0004356|DOID:0060680|Orphanet:26823|OMIM:600510|SCTID:392133001|UMLS:C1271398|MESH:C563184 https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome owl:Class HP:0001909 biolink:NamedThing Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. tmpte7i6ely_mondo_relaxed.owl Leukaemia|Blood cancer UMLS:C0023418|MSH:D019337|UMLS:C0376545|SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D007938|SNOMEDCT_US:93143009|SNOMEDCT_US:269475001 HP:0005519|HP:0006726 human_phenotype owl:Class MONDO:0021134 biolink:NamedThing acquired factor X deficiency An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition. tmpte7i6ely_mondo_relaxed.owl acquired factor X deficiency ICD9:286.9|UMLS:C0272328|NCIT:C131626|SCTID:33820001 owl:Class HGNC:1349 biolink:NamedThing SAMD9L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100132 biolink:NamedThing intrahepatic bile duct adenosquamous carcinoma An adenosquamous carcinoma that arises from the intrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class NCIT:C18264 biolink:NamedThing Pathogenesis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004554 biolink:NamedThing hindlimb digital artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030986 biolink:NamedThing blistering, acantholytic, of oral and laryngeal mucosa tmpte7i6ely_mondo_relaxed.owl ABOLM OMIM:619226 owl:Class ENVO:01000895 biolink:NamedThing snowfall A hydrological process in which irregular aggregates of snow fall to a planetary surface. tmpte7i6ely_mondo_relaxed.owl snow fall owl:Class MONDO:0012329 biolink:NamedThing short stature and Facioauriculothoracic malformations tmpte7i6ely_mondo_relaxed.owl short stature and Facioauriculothoracic malformations MESH:C566457|UMLS:C1864791|OMIM:609654 owl:Class HGNC:7516 biolink:NamedThing MUC5B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003329 biolink:NamedThing ureteral obstruction Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy. tmpte7i6ely_mondo_relaxed.owl ureteral obstruction (disease)|ureteral obstruction ureteral obstruction (disease) ICD9:593.4|MESH:D014517|HP:0006000|SCTID:20018005|DOID:5199 owl:Class MONDO:0021915 biolink:NamedThing arakawa syndrome 2 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. tmpte7i6ely_mondo_relaxed.owl Arakawa's syndrome 2|methylcobalamin deficiency, cblG type|tetrahydrofolate methyltransferase deficiency|tetrahydrofolate-methyltransferase deficiency syndrome|Arakawa's syndrome II|homocystinuria-megaloblastic Anemia, cblG complementation type|N5-methylhomocysteine transferase deficiency|methionine synthase deficiency|Arakawa syndrome II SCTID:89579000|NCIT:C99081|UMLS:C0268611|MESH:C537426 owl:Class MONDO:0044999 biolink:NamedThing scalp disorder A disease or disorder that involves the scalp. tmpte7i6ely_mondo_relaxed.owl disease or disorder of scalp|disease of scalp|scalp disease|disorder of scalp|scalp disease or disorder UMLS:C0406629|SCTID:238922006 owl:Class ENVO:01001782 biolink:NamedThing landmass A large continuous area of land, either surrounded by sea or contiguous with another landmass. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002167 biolink:NamedThing Neurological speech impairment tmpte7i6ely_mondo_relaxed.owl Speech impairment|Speech disorder|Speech impediment UMLS:C0037822|MSH:D013064 human_phenotype owl:Class MONDO:0010575 biolink:NamedThing deafness-hypogonadism syndrome This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior. tmpte7i6ely_mondo_relaxed.owl DHS|deafness-hypogonadism syndrome|deafness hypogonadism syndrome GARD:0001691|Orphanet:90646|OMIM:304350|MESH:C564435 https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome owl:Class MONDO:0010018 biolink:NamedThing second metatarsal-metacarpal syndrome tmpte7i6ely_mondo_relaxed.owl second metatarsal-metacarpal syndrome OMIM:269630|UMLS:C1849259|MESH:C564824 owl:Class MONDO:0033641 biolink:NamedThing cleft palate, proliferative retinopathy, and developmental delay tmpte7i6ely_mondo_relaxed.owl CPPRDD OMIM:619074 owl:Class HP:0005912 biolink:NamedThing Biliary atresia Atresia of the biliary tree. tmpte7i6ely_mondo_relaxed.owl Biliary duct atresia MSH:D001656|SNOMEDCT_US:82821008|UMLS:C0005411|SNOMEDCT_US:77480004 peter 2008-03-27T02:07:00Z human_phenotype owl:Class HP:0012440 biolink:NamedThing Abnormal biliary tract morphology A structural abnormality of the biliary tree. tmpte7i6ely_mondo_relaxed.owl Anomaly of the biliary tract UMLS:C4021086 peter 2013-11-23T02:15:33Z human_phenotype owl:Class MONDO:0014502 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections. tmpte7i6ely_mondo_relaxed.owl MSMD due to complete ISG15 deficiency|ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IMD38|immunodeficiency 38, Mycobacteriosis, autosomal recessive|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15|immunodeficiency 38 with basal ganglia calcification|ISG15 deficiency, autosomal recessive OMIM:616126|ICD10:D84.8|UMLS:C4015293|Orphanet:319563 Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease owl:Class MONDO:0020526 biolink:NamedThing acute megakaryoblastic leukemia in down syndrome tmpte7i6ely_mondo_relaxed.owl DS-AMKL UMLS:CN207426|Orphanet:99887|ICD10:C94.2 owl:Class MONDO:0018872 biolink:NamedThing acute megakaryoblastic leukemia Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. tmpte7i6ely_mondo_relaxed.owl acute megakaryoblastic leukaemia|acute megakaryoblastic leukaemia, FAB M7|acute megakaryoblastic leukemia (FAB type M7)|acute M7 myeloid leukemia|acute megakaryoblastic leukemia, FAB M7|leukemia, megakaryocytic, malignant|acute megakaryoblastic leukemia|FAB M7|acute myeloblastic leukemia type 7|thrombocytic leukaemia|acute megakaryocytic leukemias|megakaryocytic myelosis|megakaryocytic leukemia|acute megakaryocytic leukemia|acute myeloid leukemia M7|AML M7|AMKL Wikipedia:Acute_megakaryoblastic_leukemia|UMLS:C0023462|SCTID:277602003|ICD10:C94.2|ONCOTREE:AMKL|NCIT:C3170|ICD9:207.2|ICDO:9910/3|Orphanet:518|GARD:0000524|MESH:D007947|EFO:0003025|ICD10:C94.20|MedDRA:C0023462|DOID:8761 https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia owl:Class UBERON:0014791 biolink:NamedThing musculature of forelimb stylopod tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023961 biolink:NamedThing visceral neuropathy, familial tmpte7i6ely_mondo_relaxed.owl OMIMPS:243180 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018061 biolink:NamedThing trichodermodysplasia-dental alterations syndrome Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl Pinheiro-Freire Maia-Miranda syndrome|Pinheiro Freire-Maia Miranda syndrome|Trichodermodysplasia with dental alterations GARD:0004369|MESH:C537402|UMLS:C2931485|Orphanet:3353 owl:Class MONDO:0007301 biolink:NamedThing cerebrocostomandibular syndrome Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. tmpte7i6ely_mondo_relaxed.owl cerebro-costo-mandibular syndrome|CCM syndrome|CEREBROCOSTOMANDIBULAR syndrome|rib Gap defects with micrognathia|cerebrocostomandibular syndrome|CCMS DOID:0111248|GARD:0006026|MESH:C562538|ICD10:Q87.8|SCTID:51780007|Orphanet:1393|OMIM:117650|ICD9:759.89|UMLS:C0265342 owl:Class ENVO:01000982 biolink:NamedThing water flow process A process during which a volume of water is transported due to a disequilibria in physical forces. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008104 biolink:NamedThing Noonan syndrome 1 Noonan syndrome caused by mutations in the PTPN11 gene. tmpte7i6ely_mondo_relaxed.owl Noonan syndrome type 1|Noonan syndrome|Noonan syndrome 1|pterygium colli syndrome|NS1|Turner phenotype with normal karyotype|Male Turner syndrome|female pseudo-Turner syndrome Orphanet:648|DOID:0060578|NCIT:C75459|UMLS:C0028326|UMLS:C4551602|GARD:0007223|OMIM:163950 https://github.com/monarch-initiative/mondo/issues/2554 owl:Class MONDO:0005754 biolink:NamedThing epilepsy with generalized tonic-clonic seizures A generalized tonic-clonic seizure. tmpte7i6ely_mondo_relaxed.owl epileptic seizures, tonic-clonic|tonic-clonic epilepsy|grand Mal epilepsy UMLS:C0014549|SCTID:352818000|NCIT:C3022|MESH:D004830|EFO:0007262|ICD9:345.10|DOID:7725 owl:Class MONDO:0006351 biolink:NamedThing parachordoma A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities. tmpte7i6ely_mondo_relaxed.owl parachordoma ICDO:9373/1|SCTID:404086000|DOID:2647|ICDO:9373/0|UMLS:C1266175|NCIT:C6581|EFO:1000452 owl:Class MONDO:0033635 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 3 tmpte7i6ely_mondo_relaxed.owl MC4DN3 OMIM:619046 owl:Class MONDO:0033549 biolink:NamedThing optic atrophy 12 tmpte7i6ely_mondo_relaxed.owl OPA12|OPTIC ATROPHY 12 OMIM:618977 owl:Class MONDO:0013029 biolink:NamedThing cerebellar ataxia type 9 tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 9|SCA9|spinocerebellar ataxia 9|cerebellar ataxia type 9 OMIM:612876|DOID:0111747|GARD:0010481|UMLS:C3887996 owl:Class MONDO:0100371 biolink:NamedThing acute hepatitis C virus infection A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics. tmpte7i6ely_mondo_relaxed.owl acute hepatitis C NCIT:C157782 owl:Class HP:0000646 biolink:NamedThing Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. tmpte7i6ely_mondo_relaxed.owl Lazy eye|Wandering eye|Wandering eyes MSH:D000550|UMLS:C0002418|SNOMEDCT_US:387742006 Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. human_phenotype owl:Class MONDO:0033006 biolink:NamedThing Galloway-Mowat syndrome 2, X-linked tmpte7i6ely_mondo_relaxed.owl GAMOS2|Galloway-Mowat syndrome 2|Galloway-Mowat syndrome 2, X-linked OMIM:301006|Orphanet:2065|UMLS:CN570502|DOID:0080244 owl:Class HGNC:4678 biolink:NamedThing GUCA1A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8624 biolink:NamedThing PAXIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:36338 biolink:NamedThing lepton Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). tmpte7i6ely_mondo_relaxed.owl leptons owl:Class CHEBI:36340 biolink:NamedThing fermion Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. tmpte7i6ely_mondo_relaxed.owl fermion|fermions owl:Class MONDO:0002982 biolink:NamedThing peripheral primitive neuroectodermal tumor of soft tissues A small round cell tumor with neural differentiation arising from the soft tissues. tmpte7i6ely_mondo_relaxed.owl peripheral neuroepithelioma of soft tissues|peripheral neuroepithelioma of the soft tissues|soft tissue peripheral neuroepithelioma|peripheral neuroectodermal tumor of soft tissues|peripheral primitive neuroectodermal tumor of soft tissues|peripheral neuroectodermal tumor of the soft tissues UMLS:C1112437|DOID:4389|NCIT:C27471 owl:Class MONDO:0020555 biolink:NamedThing pleuropulmonary blastoma type 1 A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. tmpte7i6ely_mondo_relaxed.owl type I pleuropulmonary blastoma UMLS:CN207457|ICD10:C34.9|ICD10:C34.3|SCTID:707671008|NCIT:C45626|Orphanet:99933|ICD10:C34.8|ICD10:C34.1|ICD10:C34.2|ICD9:162.9 owl:Class MONDO:0014429 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpte7i6ely_mondo_relaxed.owl autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|autosomal dominant MSMD due to partial IFNgammaR1 deficiency|IFNGR1 deficiency, autosomal dominant|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|immunodeficiency 27B|IMD27B|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency type 27B OMIM:615978|UMLS:C4014863|Orphanet:319581|ICD10:D84.8 owl:Class UBERON:0013149 biolink:NamedThing hindbrain vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018898 biolink:NamedThing primary cutaneous lymphoma Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities. tmpte7i6ely_mondo_relaxed.owl primary cutaneous lymphoma|cutaneous (skin) lymphoma|primary skin lymphoma SCTID:400001003|UMLS:C1302772|NCIT:C7162|Orphanet:542|MedDRA:10051708 owl:Class GO:0055026 biolink:NamedThing negative regulation of cardiac muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. tmpte7i6ely_mondo_relaxed.owl negative regulation of heart muscle development|inhibition of cardiac muscle development|downregulation of cardiac muscle development|down-regulation of cardiac muscle development|down regulation of cardiac muscle development owl:Class MONDO:0010600 biolink:NamedThing granulomatous disease, chronic, X-linked tmpte7i6ely_mondo_relaxed.owl CGD|cytochrome B-positive granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked|chronic granulomatous disease, atypical|cytochrome B-negative granulomatous disease, chronic, X-linked|granulomatous disease, chronic, autosomal dominant type|chronic granulomatous disease, X-linked|granulomatous disease, chronic, X-linked, variant|CDGX OMIM:306400|DOID:0070195|OMIM:138990|DOID:0070190|Orphanet:379|MESH:C564210|UMLS:C1841825 owl:Class MONDO:0019328 biolink:NamedThing macrocystic lymphatic malformation A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces. tmpte7i6ely_mondo_relaxed.owl macrocystic lymphangioma|cavernous lymphatic malformation|cavernous lymphangioma ICD10:D18.1|NCIT:C53316|Orphanet:79489|GARD:0006010 owl:Class HGNC:11584 biolink:NamedThing TBK1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3483 biolink:NamedThing ETFDH tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:78608 biolink:NamedThing alpha-amino acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl an alpha-amino acid owl:Class MONDO:0016350 biolink:NamedThing hydrocephalus-blue sclerae-nephropathy syndrome Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. tmpte7i6ely_mondo_relaxed.owl Daentl-Townsend-Siegel syndrome Orphanet:2186|ICD10:Q87.8 owl:Class GO:0004336 biolink:NamedThing galactosylceramidase activity Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. tmpte7i6ely_mondo_relaxed.owl galactosylcerebrosidase activity|galactocerebroside beta-galactosidase activity|beta-galactocerebrosidase activity|galactocerebrosidase activity|galactocerebroside galactosidase activity|lactosylceramidase activity|D-galactosyl-N-acylsphingosine galactohydrolase activity|galactocerebroside-beta-D-galactosidase activity|galactosylceramide beta-galactosidase activity|lactosylceramidase I|beta-galactosylceramidase activity|ceramide galactosidase activity|galactosylceramidase I|galcerase activity|cerebroside galactosidase activity|cerebroside beta-galactosidase activity owl:Class MONDO:0030606 biolink:NamedThing Bryant-Li-Bhoj neurodevelopmental syndrome 1 tmpte7i6ely_mondo_relaxed.owl BRYLIB1 OMIM:619720 owl:Class MONDO:0013603 biolink:NamedThing myopia 20, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MYP20|myopia 20, autosomal dominant UMLS:C3279996|OMIM:614166 owl:Class MONDO:0010813 biolink:NamedThing pancreatic beta cell agenesis with neonatal diabetes mellitus tmpte7i6ely_mondo_relaxed.owl pancreatic beta cell agenesis with neonatal diabetes mellitus OMIM:600089|UMLS:C1838655|Orphanet:28455|MESH:C538111 owl:Class MONDO:0015481 biolink:NamedThing coloboma of inferior eyelid Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. tmpte7i6ely_mondo_relaxed.owl Inferior palpebral coloboma Orphanet:155889|ICD10:Q10.3|SCTID:763133008 Editor note: TODO axioms owl:Class MONDO:0008880 biolink:NamedThing Bowen syndrome of multiple malformations tmpte7i6ely_mondo_relaxed.owl Bowen syndrome|Bowen syndrome of multiple malformations MESH:C538164|OMIM:211200|Orphanet:1271|UMLS:C1859404 owl:Class CL:0002123 biolink:NamedThing B220-low CD38-positive IgG-negative class switched memory B cell A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive. tmpte7i6ely_mondo_relaxed.owl cell owl:Class CL:0002122 biolink:NamedThing B220-positive CD38-positive IgG-negative class switched memory B cell A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MPATH:608 biolink:NamedThing abscess A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. tmpte7i6ely_mondo_relaxed.owl owl:Class MPATH:607 biolink:NamedThing healing and repair structure Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011243 biolink:NamedThing grange syndrome Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases. tmpte7i6ely_mondo_relaxed.owl grange syndrome|GRNG|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|grange occlusive arterial syndrome|arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly OMIM:602531|MESH:C566529|ICD10:Q87.8|SCTID:717824007|Orphanet:79094|UMLS:C1865267 owl:Class MONDO:0100480 biolink:NamedThing autoimmune primary adrenal insufficiency Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. tmpte7i6ely_mondo_relaxed.owl autoimmune Addison's disease|autoimmune adrenalitis NCIT:C113814|Orphanet:85138 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0036483 biolink:NamedThing short-rib thoracic dysplasia 18 with polydactyly tmpte7i6ely_mondo_relaxed.owl short-rib thoracic dysplasia 18 with polydactyly|SRTD18 DOID:0080293|OMIM:617866|UMLS:CN795020 owl:Class MONDO:0006843 biolink:NamedThing macular holes A hole in the macula of the retina. tmpte7i6ely_mondo_relaxed.owl macular hole NCIT:C34795|DOID:7633|UMLS:C0024441|SCTID:232006002|EFO:1001028 owl:Class SO:0005855 biolink:NamedThing gene_group A collection of related genes. tmpte7i6ely_mondo_relaxed.owl gene group owl:Class MONDO:0017700 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form tmpte7i6ely_mondo_relaxed.owl GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type IV, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|GBE deficiency, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|GSD type 4, childhood neuromuscular form ICD10:E74.0|Orphanet:308698|UMLS:C1856305|OMIM:232500 owl:Class ECTO:4000033 biolink:NamedThing exposure to decreased water pressure A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of water. tmpte7i6ely_mondo_relaxed.owl exposure to decreased amount in pressure of water owl:Class CL:1000447 biolink:NamedThing epithelial cell of stratum germinativum of esophagus A basal cell that is part of the epithelium of esophagus. tmpte7i6ely_mondo_relaxed.owl basal cell of esophageal epithelium FMA:70731 cell owl:Class MONDO:0032885 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor-Toutain type tmpte7i6ely_mondo_relaxed.owl SEMDIST|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE OMIM:618728 owl:Class MONDO:0032599 biolink:NamedThing immunodeficiency 15a tmpte7i6ely_mondo_relaxed.owl IMD15A|IMMUNODEFICIENCY 15A OMIM:618204 owl:Class GO:0051608 biolink:NamedThing histamine transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:227984 biolink:NamedThing SARS coronavirus Tor2 tmpte7i6ely_mondo_relaxed.owl SARS Tor2|Severe acute respiratory syndrome-related coronavirus Tor2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010607 biolink:NamedThing heterotaxy, visceral, 1, X-linked X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. tmpte7i6ely_mondo_relaxed.owl visceral heterotaxy caused by mutation in ZIC3|HTX1|heterotaxy, visceral, X-linked|congenital heart defects, multiple types, 1, X-linked|laterality, X-linked|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|ZIC3 visceral heterotaxy|X-linked visceral heterotaxy 1|dextrocardia with Other Cardiac malformations|heterotaxy, visceral, 1, X-linked GARD:0008591|Orphanet:450|UMLS:C1844020|EFO:0009136|MESH:C538116|OMIM:306955 https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 owl:Class MONDO:0030916 biolink:NamedThing intellectual disability, autosomal dominant 50 tmpte7i6ely_mondo_relaxed.owl autosomal dominant intellectual disability 50|MRD50|autosomal dominant mental retardation 50|intellectual disability, autosomal dominant 50|mental retardation, autosomal dominant 50 OMIM:617787|UMLS:CN671930|DOID:0080233 owl:Class MONDO:0019333 biolink:NamedThing autosomal recessive hyperinsulinism due to SUR1 deficiency tmpte7i6ely_mondo_relaxed.owl autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency UMLS:CN206002|OMIM:256450|ICD10:E16.1|Orphanet:79643 owl:Class MONDO:0018644 biolink:NamedThing autosomal dominant complex spastic paraplegia type 9B tmpte7i6ely_mondo_relaxed.owl AD-SPG9B Orphanet:447757|UMLS:CN237702|ICD10:G11.4 Editor note: check this owl:Class UBERON:0004764 biolink:NamedThing intramembranous bone tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018239 biolink:NamedThing rhombomere boundary tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21606 biolink:NamedThing MPC1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:387 biolink:NamedThing AKR1C4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0034982 biolink:NamedThing mitochondrial protein processing The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. tmpte7i6ely_mondo_relaxed.owl mitochondrial protein modification owl:Class UBERON:0007243 biolink:NamedThing tunica media of vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013979 biolink:NamedThing primary ciliary dyskinesia 19 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 19 with or without situs inversus|primary ciliary dyskinesia 19|CILD19|primary ciliary dyskinesia caused by mutation in LRRC6|ciliary dyskinesia, primary, 19|ciliary dyskinesia, primary, 19, with or without situs inversus|LRRC6 primary ciliary dyskinesia|primary ciliary dyskinesia type 19|ciliary dyskinesia, primary, type 19 ICD10:Q34.8|OMIM:614935|DOID:0110608|UMLS:C3543826 owl:Class MONDO:0009762 biolink:NamedThing nystagmus, congenital, autosomal recessive tmpte7i6ely_mondo_relaxed.owl nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive GARD:0009609|UMLS:C3151571|OMIM:257400|MESH:C564938 owl:Class MONDO:0011743 biolink:NamedThing Alzheimer disease 4 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. tmpte7i6ely_mondo_relaxed.owl Alzheimer disease type 4|Alzheimer's disease type 4|AD4|familial Alzheimer's disease, type 4|Alzheimer disease 4|Alzheimer disease familial type 4|Alzheimer disease, familial4|Alzheimer's disease 4|familial Alzheimer disease, type 4|Alzheimer disease, familial, 4|Ad4 DOID:0110040|MESH:C536596|NCIT:C123413|OMIM:606889|UMLS:C1847200|GARD:0009469 owl:Class HP:0001608 biolink:NamedThing Abnormality of the voice tmpte7i6ely_mondo_relaxed.owl Voice abnormality|Abnormality of the voice UMLS:C4021776 This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. human_phenotype owl:Class GO:0006767 biolink:NamedThing water-soluble vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. tmpte7i6ely_mondo_relaxed.owl water-soluble vitamin metabolism owl:Class OBO:CHR_9606-chr15q25 biolink:NamedThing 15q25 (Human) tmpte7i6ely_mondo_relaxed.owl 88500000 78000000 hg38 owl:Class MONDO:0017250 biolink:NamedThing congenital pulmonary airway malformation type 2 tmpte7i6ely_mondo_relaxed.owl CPAM type 2|congenital cystic adenomatoid malformation of the lung type 2|congenital cystic disease of the lung type 2|congenital cystic adenomatous malformation of the lung type 2|CCAM type 2 Orphanet:280840|ICD10:Q33.0 owl:Class MONDO:0015306 biolink:NamedThing Lemierre syndrome Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. tmpte7i6ely_mondo_relaxed.owl oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|Lemierre postanginal sepsis|postanginal sepsis secondary to orophyngeal infection|acute sore throat|Lemierre's syndrome|Lemierre syndrome|postanginal sepsis|necrobacillosis|septic phlebitis of the internal jugular vein|human necrobacillosis GARD:0006882|ICD9:040.3|Orphanet:137839|SCTID:52542005|MESH:D057831|DOID:11337|MedDRA:10065552|ICD10:I80.8 https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome owl:Class MONDO:0016531 biolink:NamedThing digestive duplication tmpte7i6ely_mondo_relaxed.owl ICD10:Q45.8|Orphanet:238 owl:Class MONDO:0000602 biolink:NamedThing autoimmune disorder of blood A hypersensitivity reaction type II disease that involves the blood. tmpte7i6ely_mondo_relaxed.owl blood hypersensitivity reaction type II disease|blood autoimmune disease DOID:0060050 owl:Class HGNC:1059 biolink:NamedThing BLMH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003232 biolink:NamedThing alcoholic pancreatitis Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. tmpte7i6ely_mondo_relaxed.owl alcoholic pancreatitis UMLS:C0376670|EFO:1002013|MESH:D019512|DOID:4988|SCTID:445507008 owl:Class MONDO:0042458 biolink:NamedThing Trichinella spiralis infectious disease An disease or disorder caused by infection with Trichinella spiralis. tmpte7i6ely_mondo_relaxed.owl trichinelliasis caused by Trichinella spiralis|infection caused by larvae of Trichinella spiralis|Trichinella spiralis caused disease or disorder|Trichinella spiralis disease or disorder|infection by larvae of Trichinella spiralis|trichiniasis caused by Trichinella spiralis|trichinellosis caused by Trichinella spiralis|trichinosis caused by Trichinella spiralis UMLS:C3887668|SCTID:88264003 owl:Class UBERON:0015454 biolink:NamedThing pancreatic fat pad tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017935 biolink:NamedThing hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life. tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to HNF1A deficiency UMLS:C4303475|ICD10:E16.1|Orphanet:324575|SCTID:721234004 owl:Class MONDO:0004270 biolink:NamedThing breast ductal adenoma A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. tmpte7i6ely_mondo_relaxed.owl breast ductal adenoma|ductal adenoma UMLS:C1511307|DOID:7538|NCIT:C40384 owl:Class MONDO:0009757 biolink:NamedThing Niemann-Pick disease, type C1 Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. tmpte7i6ely_mondo_relaxed.owl neurovisceral storage disease with vertical supranuclear ophthalmoplegia|type C1 Niemann-Pick disease|Niemann-Pick disease, chronic neuronopathic form|Niemann-Pick disease, type D|Niemann-Pick disease, type C1|NPC1|Niemann-PICK disease, type C1|Niemann-Pick disease, nova Scotian type|Niemann-Pick disease, subacute juvenile form|Niemann-Pick disease with cholesterol esterification block|Niemann-Pick disease type C1|Niemann-Pick disease, type C|Niemann-Pick disease without sphingomyelinase deficiency ICD10:E75.2|SCTID:18927009|GARD:0007207|UMLS:C3179455|DOID:0070113|OMIM:257220|Orphanet:646|NCIT:C126864 owl:Class CHEBI:136859 biolink:NamedThing pro-agent A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent. tmpte7i6ely_mondo_relaxed.owl proagent|pro-agents|proagents owl:Class MONDO:0010124 biolink:NamedThing thumb, distal hyperextensibility of tmpte7i6ely_mondo_relaxed.owl thumb, distal hyperextensibility of OMIM:274200 owl:Class MONDO:0004127 biolink:NamedThing lung occult adenocarcinoma A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpte7i6ely_mondo_relaxed.owl occult lung adenocarcinoma|occult adenocarcinoma of the lung|occult adenocarcinoma of lung UMLS:C1335096|DOID:7168|NCIT:C6699 owl:Class MONDO:0030991 biolink:NamedThing bile acid conjugation defect 1 tmpte7i6ely_mondo_relaxed.owl BACD1 OMIM:619232 owl:Class MONDO:0005295 biolink:NamedThing intermittent vascular claudication A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate. tmpte7i6ely_mondo_relaxed.owl intermittent claudication|Charcot's syndrome ICD9:440.21|MESH:D007383|SCTID:63491006|DOID:3669|ICD10:I73.9|UMLS:C0021775|EFO:0003876 owl:Class HGNC:1582 biolink:NamedThing CCND1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008724 biolink:NamedThing adducted thumbs-arthrogryposis syndrome, Christian type A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983. tmpte7i6ely_mondo_relaxed.owl adducted thumbs syndrome OMIM:201550|Orphanet:2952|ICD10:Q74.8 owl:Class PATO:0015024 biolink:NamedThing increased porosity An increase in porosity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023605 biolink:NamedThing Laugier-Hunziker syndrome tmpte7i6ely_mondo_relaxed.owl Laugier and Hunziker pigmentation|LHS|Laugier-Hunziker syndrome SCTID:238706002|UMLS:C0406425|GARD:0009669|ICD9:528.9 https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome owl:Class HP:0000927 biolink:NamedThing Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. tmpte7i6ely_mondo_relaxed.owl Abnormality of skeletal maturation UMLS:C4025818 human_phenotype owl:Class MONDO:0016562 biolink:NamedThing progressive supranuclear palsy-pure akinesia with gait freezing syndrome PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpte7i6ely_mondo_relaxed.owl PSP-PAGF|PSP-pure akinesia with gait freezing ICD10:G23.1|Orphanet:240094|UMLS:CN226961 owl:Class MONDO:0020488 biolink:NamedThing atypical progressive supranuclear palsy syndrome Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA). tmpte7i6ely_mondo_relaxed.owl atypical PSP syndrome OMIM:260540|ICD10:G23.1|MESH:C537240|Orphanet:99750 owl:Class MONDO:0004128 biolink:NamedThing lung occult large cell carcinoma A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpte7i6ely_mondo_relaxed.owl occult large cell carcinoma of lung|occult large cell lung carcinoma|occult large cell carcinoma of the lung NCIT:C6685|DOID:7169|UMLS:C1335095 owl:Class MONDO:0013952 biolink:NamedThing peroxisome biogenesis disorder 13A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group K|peroxisome biogenesis disorder 13A (Zellweger)|PBD13A OMIM:614887|UMLS:C3554004|MESH:C566624|DOID:0080487 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0017530 biolink:NamedThing polysyndactyly, bilateral tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly type 4, bilateral Orphanet:295161|UMLS:CN203261|ICD10:Q70.4 owl:Class MONDO:0018420 biolink:NamedThing autosomal recessive spastic paraplegia type 68 tmpte7i6ely_mondo_relaxed.owl SPG68 ICD10:G11.4|UMLS:CN226127|Orphanet:401825 owl:Class MONDO:0018930 biolink:NamedThing monosomy 21 Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl 21q- syndrome|21q monosomy|monosomy type 21|21q deletion|chromosome 21q deletion|partial monosomy 21q|21q deletion syndrome|monosomy 21q|deletion 21q|partial 21q monosomy GARD:0010860|UMLS:C0795875|Orphanet:574|NCIT:C36469|ICD10:Q93.0|MESH:C537108 owl:Class HGNC:17024 biolink:NamedThing PHF11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018653 biolink:NamedThing Polymerase proofreading-related adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl PPAP|Polymerase proofreading-related adenomatous polyposis Orphanet:447877|OMIM:615083|OMIM:612591|NCIT:C162484|ICD10:D12.6 owl:Class MONDO:0001259 biolink:NamedThing pituitary gland infarction Ischemic necrosis of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl pituitary gland infarction|pituitary infarct|pituitary infarction SCTID:95830009|UMLS:C0342405|ICD9:253.8|NCIT:C27117|DOID:1130 owl:Class HP:0001966 biolink:NamedThing Abnormal glomerular mesangium morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. tmpte7i6ely_mondo_relaxed.owl Abnormality glomerular mesangium morphology|Mesangial abnormality|Abnormality of the glomerular mesangium UMLS:C4025733 Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. human_phenotype owl:Class MONDO:0009197 biolink:NamedThing transient erythroblastopenia of childhood An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. tmpte7i6ely_mondo_relaxed.owl transient acquired pure red cell aplasia|erythroblastopenia, transient|tec|familial transient erythroblastopenia of childhood|transient erythroblastopenia of childhood ICD10:D60.1|UMLS:C0238478|OMIM:227050|NCIT:C131683|Orphanet:98871|SCTID:191255003|MESH:C536980|ICD9:284.81|UMLS:C0451688|GARD:0007793 https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood owl:Class MONDO:0020113 biolink:NamedThing primary acquired red cell aplasia tmpte7i6ely_mondo_relaxed.owl primary autoimmune red cell aplasia|red cell aplasia ICD10:D60.1|Orphanet:98421|ICD10:D60.0|ICD10:D60.9|ICD10:D60.8|MedDRA:10038184 owl:Class NCBITaxon:77643 biolink:NamedThing Mycobacterium tuberculosis complex tmpte7i6ely_mondo_relaxed.owl Mycobacterium complex PMID:29205127|PMID:15243089|GC_ID:11 ncbi_taxonomy owl:Class HGNC:1242 biolink:NamedThing C1QB tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11811 biolink:NamedThing KLF11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023305 biolink:NamedThing heavy metal poisoning Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. tmpte7i6ely_mondo_relaxed.owl chronic heavy metal poisoning|heavy metal poisoning|heavy metal toxicity|toxic effect of heavy metal|heavy metal toxicosis MESH:C535854|ICD9:985.8|SCTID:85866007|GARD:0006577|EFO:1001518 https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning owl:Class MONDO:0010757 biolink:NamedThing widow's peak syndrome tmpte7i6ely_mondo_relaxed.owl widow's peak, ptosis, and skeletal anomalies|widow's peak syndrome OMIM:314570|UMLS:C1839112|MESH:C564040 owl:Class MONDO:0030089 biolink:NamedThing diabetes mellitus, permanent neonatal 4 tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, permanent neonatal 4|DIABETES MELLITUS, PERMANENT NEONATAL 4|PNDM4 OMIM:618858 owl:Class MONDO:0015769 biolink:NamedThing distal trisomy 6p Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. tmpte7i6ely_mondo_relaxed.owl distal trisomy type 6p|trisomy 6pter|telomeric duplication 6p|distal duplication 6p UMLS:C4302551|SCTID:722430008|Orphanet:1745|ICD10:Q92.3 owl:Class MONDO:0009167 biolink:NamedThing Bonnemann-Meinecke-Reich syndrome Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. tmpte7i6ely_mondo_relaxed.owl encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|encephalopathy-intracerebral calcification-retinal degeneration syndrome|Bonnemann Meinecke Reich syndrome|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration SCTID:733049004|ICD10:Q04.8|Orphanet:1261|GARD:0002113|OMIM:225755|UMLS:C1856973|MESH:C565594 https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration owl:Class MONDO:0010798 biolink:NamedThing proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl proximal tubulopathy, diabetes mellitus and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA|renal tubulopathy, diabetes mellitus, and cerebellar ataxia MESH:C564014|OMIM:560000|ICD10:Q87.8|GARD:0004532|UMLS:C3151959|Orphanet:3390 owl:Class NCBITaxon:34064 biolink:NamedThing Francisellaceae tmpte7i6ely_mondo_relaxed.owl Francisella group GC_ID:11|PMID:22939414|PMID:26747442|PMID:16280474 ncbi_taxonomy owl:Class CL:0002119 biolink:NamedThing CD38-positive IgG-negative class switched memory B cell A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HP:0045005 biolink:NamedThing Neural tube defect A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. tmpte7i6ely_mondo_relaxed.owl Abnormality of neural tube closure MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 HPO:skoehler human_phenotype owl:Class MONDO:0015630 biolink:NamedThing von Willebrand disease type 2M A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. tmpte7i6ely_mondo_relaxed.owl von Willebrand disease, type 2M SCTID:359729006|OMIM:613554|ICD10:D68.0|NCIT:C131688|Orphanet:166090|UMLS:C1282974|SCTID:359725000 Editor note: 2 sctitds refer to same disease owl:Class HP:0001999 biolink:NamedThing Abnormal facial shape An abnormal morphology (form) of the face or its components. tmpte7i6ely_mondo_relaxed.owl Unusual facies|Dysmorphic facial features|Distortion of face|Funny looking face|Unusual facial appearance|Deformity of face|Abnormal morphology of the face|Distinctive facies|Abnormal facial shape|Malformation of face|Dysmorphic facies|Facial dysmorphism UMLS:C0266617|SNOMEDCT_US:398206004|SNOMEDCT_US:248200007|UMLS:C1385263|UMLS:C4072832|UMLS:C4072833|UMLS:C0424503|SNOMEDCT_US:398302004|SNOMEDCT_US:32003007 This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. HP:0004643|HP:0004652|HP:0005124|HP:0004675|HP:0002004|HP:0004649|HP:0002260|HP:0004655 human_phenotype owl:Class MONDO:0000683 biolink:NamedThing topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. tmpte7i6ely_mondo_relaxed.owl SCTID:83824009|DOID:0060153 owl:Class MONDO:0014292 biolink:NamedThing leukoencephalopathy with mild cerebellar ataxia and white matter edema tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy with ataxia|LKPAT Orphanet:363540|ICD10:E75.2|SCTID:768663003|NCIT:C171603|UMLS:C3810242|OMIM:615651 owl:Class MONDO:0033493 biolink:NamedThing fibromatosis, gingival, 5 tmpte7i6ely_mondo_relaxed.owl gingival fibromatosis 5|GGF5|fibromatosis, gingival, hereditary, 5|GINGF5|fibromatosis, gingival, 5 Orphanet:2024|OMIM:617626|DOID:0080280 owl:Class MONDO:0003053 biolink:NamedThing choroid plexus meningioma A meningioma that affects the choroid plexus. tmpte7i6ely_mondo_relaxed.owl meningioma (disease) of choroid plexus|choroid plexus meningioma|meningioma of the choroid plexus|meningioma of choroid plexus|choroid meningioma (morphologic abnormality)|choroid plexus meningioma (disease) DOID:4584|NCIT:C4719|UMLS:C0431118 owl:Class MONDO:0022220 biolink:NamedThing Parinaud syndrome A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. tmpte7i6ely_mondo_relaxed.owl vertical gaze palsy - Parinaud|Parinaud's syndrome|Parinaud syndrome|dorsal midbrain syndrome|paralysis of vertical movement|Parinaud's ophthalmoplegia|Parinauds syndrome|syndrome, Parinaud's|syndrome, Parinaud MEDGEN:57754|SCTID:37991008|NCIT:C54102|UMLS:C0152222 owl:Class MONDO:0054785 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 6 tmpte7i6ely_mondo_relaxed.owl MMDS6|multiple MITOCHONDRIAL dysfunctions syndrome 6 OMIM:617954|DOID:0070332|UMLS:CN244567 owl:Class MONDO:0033374 biolink:NamedThing developmental and epileptic encephalopathy, 65 tmpte7i6ely_mondo_relaxed.owl DEE65|EIEE65|epileptic encephalopathy, early infantile, 65 UMLS:CN248516|DOID:0080430|OMIM:618008 owl:Class CL:0002149 biolink:NamedThing epithelial cell of uterus An epithelial cell of the uterus. tmpte7i6ely_mondo_relaxed.owl FMA:256161 tmeehan 2010-08-24T10:45:54Z CL:1000294 cell owl:Class GO:0002088 biolink:NamedThing lens development in camera-type eye The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpte7i6ely_mondo_relaxed.owl lens development in camera-style eye|lens development owl:Class MONDO:0012920 biolink:NamedThing type 1 diabetes mellitus 21 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 21|IDDM21|insulin-dependent diabetes mellitus 21 ICD10:E10|DOID:0110758|UMLS:C2675865|MESH:C567285|OMIM:612521 owl:Class MONDO:0003304 biolink:NamedThing plexiform neurofibroma An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) tmpte7i6ely_mondo_relaxed.owl plexiform neurofibroma|plexiform neurofibroma (disease) plexiform neurofibroma (disease) SCTID:403818001|EFO:0000658|NCIT:C3797|ICDO:9550/0|ICD9:215.9|UMLS:C0206728|HP:0009732|MESH:D018318|DOID:5151 owl:Class MONDO:0018906 biolink:NamedThing follicular lymphoma Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. tmpte7i6ely_mondo_relaxed.owl follicular centre cell lymphoma|follicle center lymphoma|lymphoma, follicular, malignant|lymphoma, follicular|follicular non-Hodgkin lymphoma|lymphoma, follicular centre cell|follicular non-Hodgkin's lymphoma HGNC:990|ICDO:9690/3|ICD10:C82.1|UMLS:C0024301|ONCOTREE:FL|ICD10:C82.4|SCTID:308121000|DOID:0050873|ICD10:C82.6|GARD:0002356|ICD10:C82.0|ICD10:C82.9|ICD10:C82.5|ICD10:C82.2|ICD10:C82.7|OMIM:613024|ICD10:C82.3|Orphanet:545|NCIT:C3209|MESH:D008224 https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma owl:Class UBERON:0005239 biolink:NamedThing basal plate metencephalon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007115 biolink:NamedThing angioma serpiginosum, autosomal dominant tmpte7i6ely_mondo_relaxed.owl autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant UMLS:C1970130|OMIM:106050|MESH:C536365|Orphanet:95429|GARD:0010189 https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant owl:Class MONDO:0032911 biolink:NamedThing hearing loss, autosomal dominant 75 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 75|DFNA75|DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM:618778 owl:Class MONDO:0015388 biolink:NamedThing polyrrhinia Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. tmpte7i6ely_mondo_relaxed.owl Double nose|Polyrhinia SCTID:716279002|ICD10:Q30.8|Orphanet:141091 owl:Class MONDO:0013085 biolink:NamedThing neuroblastoma, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl NBLST5|neuroblastoma, susceptibility to, 5 OMIM:613016 owl:Class MONDO:0018973 biolink:NamedThing patterned dystrophy of the retinal pigment epithelium tmpte7i6ely_mondo_relaxed.owl MESH:C536309|Orphanet:63454|UMLS:C1868569|ICD10:H35.5|GARD:0009821 owl:Class MONDO:0020429 biolink:NamedThing cor triatriatum dexter tmpte7i6ely_mondo_relaxed.owl cor triatriatum dexter|divided right atrium|cor triatriatum dextrum|cor triatriatum dexter (disease) cor triatriatum dexter (disease) ICD9:746.89|HP:0011566|ICD10:Q24.2|GARD:0012483|Orphanet:99098|SCTID:274947007 owl:Class MONDO:0000884 biolink:NamedThing myeloid and lymphoid neoplasms associated with FGFR1 abnormalities tmpte7i6ely_mondo_relaxed.owl NCIT:C84277|DOID:0080167 Editor note: check relation to MONDO:0007844 owl:Class MONDO:0044311 biolink:NamedThing brachycephaly, trichomegaly, and developmental delay BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}). tmpte7i6ely_mondo_relaxed.owl BTDD|brachycephaly, trichomegaly, and developmental delay|Macinnes syndrome UMLS:C4479431|OMIM:617412 owl:Class MONDO:0007710 biolink:NamedThing facial hemiatrophy Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. tmpte7i6ely_mondo_relaxed.owl progressive hemifacial atrophy|Romberg hemi-facial atrophy|HFA|hemifacial atrophy|hemifacial atrophy, progressive|parry-Romberg syndrome|Romberg syndrome|PHA|progressive facial hemiatrophy SCTID:718224004|OMIM:141300|DOID:1757|GARD:0007338|MESH:D005150|UMLS:C0015458|Orphanet:1214|NCIT:C116916|NCIT:C84703|ICD10:G51.8 owl:Class MONDO:0007155 biolink:NamedThing arteritis, familial granulomatous, with juvenile polyarthritis tmpte7i6ely_mondo_relaxed.owl arteritis, familial granulomatous, with juvenile polyarthritis MESH:C566253|UMLS:C1862510|OMIM:108050 owl:Class MONDO:0011594 biolink:NamedThing ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis tmpte7i6ely_mondo_relaxed.owl ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis|gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis OMIM:605756|UMLS:C3148970 owl:Class MONDO:0020439 biolink:NamedThing patent foramen ovale A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes. tmpte7i6ely_mondo_relaxed.owl patent foramen ovale (disease)|foramen ovale patent|ostium secundum type atrial septal defect|persistent ostium secundum|defect, patent or persistent, ostium secundum|atrial septal defect within oval fossa|patent foramen ovale patent foramen ovale (disease) Orphanet:99108|MESH:D054092|ICD10:Q21.1|HP:0001655|DOID:13620|UMLS:C0016522|MedDRA:10016982|NCIT:C34619 owl:Class OBO:CHR_9606-chr1q12-q21 biolink:NamedThing 1q12-q21 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0100113 biolink:NamedThing hearing loss with skin disease Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024517 biolink:NamedThing schwannomatosis 1 tmpte7i6ely_mondo_relaxed.owl SWNTS1|SCHWANNOMATOSIS 1|neurilemmomatosis, congenital cutaneous OMIM:162091|UMLS:C4048809|Orphanet:93921 owl:Class HGNC:21246 biolink:NamedThing PNPLA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010843 biolink:NamedThing dyslexia, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl DYX2|reading disability, specific, 2|dyslexia, susceptibility to, 2 OMIM:600202 owl:Class HGNC:6267 biolink:NamedThing KCNJ6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007138 biolink:NamedThing anterior segment dysgenesis 1 tmpte7i6ely_mondo_relaxed.owl ASGD1|ASMD|anterior segment mesenchymal dysgenesis|anterior segment ocular dysgenesis|anterior segment dysgenesis 1 DOID:0060605|Orphanet:88632|OMIM:107250|ICD10:Q13.8|UMLS:C1862839 owl:Class UBERON:0016854 biolink:NamedThing dorsal part of optic cup tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019574 biolink:NamedThing secondary intestinal lymphangiectasia Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. tmpte7i6ely_mondo_relaxed.owl Orphanet:90363|UMLS:C4273969|ICD10:I89.0|SCTID:717255008 owl:Class MONDO:0033818 biolink:NamedThing Terrien marginal degeneration A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism tmpte7i6ely_mondo_relaxed.owl Terrien's marginal degeneration Orphanet:519410 owl:Class GO:0008119 biolink:NamedThing thiopurine S-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether. tmpte7i6ely_mondo_relaxed.owl 6-thiopurine transmethylase activity|S-adenosyl-L-methionine:thiopurine S-methyltransferase activity|thiopurine methyltransferase activity|TPMT|mercaptopurine methyltransferase activity owl:Class GO:0008172 biolink:NamedThing S-methyltransferase activity Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11946 biolink:NamedThing TNNI2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007488 biolink:NamedThing Lewy body dementia A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. tmpte7i6ely_mondo_relaxed.owl Lewy body variant of Alzheimer disease|diffuse Lewy body disease|Lewy body disease|dementia with Lewy bodies|DLB|Senile dementia of the Lewy body type|Lewy body dementia|cortical Lewy body disease|dementia, Lewy body|diffuse Lewy body disease with gaze palsy UMLS:C0752347|ICD9:331.82|OMIM:127750|NCIT:C84826|GARD:0003243|ICD10:G31.83|EFO:0006792|DOID:12217|Orphanet:1648|SCTID:312991009 owl:Class MONDO:0030962 biolink:NamedThing nephrotic syndrome, type 23 tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome, type 23|NPHS23 OMIM:619201 owl:Class MONDO:0019729 biolink:NamedThing light and heavy chain deposition disease tmpte7i6ely_mondo_relaxed.owl LHCDD UMLS:CN206636|Orphanet:93557|ICD10:D89.8 owl:Class MONDO:0003009 biolink:NamedThing hyperaldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. tmpte7i6ely_mondo_relaxed.owl primary hyperaldosteronism ICD9:255.1|DOID:446|ICD10:E26|ICD9:255.10|MESH:D006929|UMLS:C0020428|ICD10:E26.9|SCTID:88213004|Orphanet:235936|NCIT:C113213|OMIM:605635|OMIM:613677 owl:Class GO:0009123 biolink:NamedThing nucleoside monophosphate metabolic process The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl nucleoside monophosphate metabolism owl:Class MONDO:0006629 biolink:NamedThing osteoarthritis, hip Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. tmpte7i6ely_mondo_relaxed.owl hip osteoarthritis NCIT:C34876|EFO:1000786|MESH:D015207|UMLS:C0029410 owl:Class PATO:0001925 biolink:NamedThing surface feature shape A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0001735 biolink:NamedThing liquid configuration A physical quality inhering in a bearer by virtue of the bearer's parts having the arrangement which exhibits characteristics of liquids. tmpte7i6ely_mondo_relaxed.owl liquid owl:Class MONDO:0100467 biolink:NamedThing preeclampsia/eclampsia 1 tmpte7i6ely_mondo_relaxed.owl hypertension, pregnancy-induced|PEE1|hemolysis, elevated liver enzymes, and low platelet count|PREG1|PREECLAMPSIA/eclampsia 1|toxemia of pregnancy OMIM:189800 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0015230 biolink:NamedThing anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl Cassia Stocco dos Santos syndrome|anophthalmia megalocornea cardiopathy skeletal anomalies Orphanet:1101|UMLS:CN197570|SCTID:720495005|GARD:0000717|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies owl:Class MONDO:0019618 biolink:NamedThing Sheehan syndrome An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. tmpte7i6ely_mondo_relaxed.owl Sheehan's syndrome|postpartum pituitary necrosis|postpartum panhypopituitarism|postpartum panhypopituitary syndrome|postpartum hypopituitarism MedDRA:10036297|UMLS:C0242342|GARD:0007630|DOID:9476|SCTID:290653008|NCIT:C35300|ICD10:E23.0|Orphanet:91355 owl:Class HGNC:2899 biolink:NamedThing DLEC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060527 biolink:NamedThing maleylacetoacetate isomerase deficiency tmpte7i6ely_mondo_relaxed.owl MAAI deficiency|benign hypersuccinylacetonemia|MAAID|hypersuccinylacetonemia, mild|maleylacetoacetate isomerase deficiency UMLS:C1291607|OMIM:617596 owl:Class MONDO:0020321 biolink:NamedThing acute undifferentiated leukemia A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. tmpte7i6ely_mondo_relaxed.owl undifferentiated acute leukemia|stem cell leukemia|stem cell acute leukemia|acute myeloid leukemia, minimal differentiation, FAB M0|leukemia stem cell|acute undifferentiated leukemia|AUL UMLS:C1282947|UMLS:C0280141|MedDRA:10045516|OMIM:601626|SCTID:359631009|ONCOTREE:AUL|ICD10:C95.0|NCIT:C9298|UMLS:C0856823|Orphanet:98835 owl:Class MONDO:0017974 biolink:NamedThing 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors tmpte7i6ely_mondo_relaxed.owl 46,XY DSD induced by maternal-exposure to endocrine disruptors UMLS:CN227235|Orphanet:325537 owl:Class PATO:0001656 biolink:NamedThing decreased osmolarity A osmolarity which is relatively low. tmpte7i6ely_mondo_relaxed.owl low osmolarity owl:Class MONDO:0007813 biolink:NamedThing superficial epidermolytic ichthyosis Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. tmpte7i6ely_mondo_relaxed.owl bullous type of ichthyosis|superficial epidermolytic ichthyosis|IBS|ichthyosis exfoliativa|SEI|ichthyosis, bullous type|ichthyosis bullosa of Siemens|bullous type ichthyosis ICD10:Q80.8|Orphanet:455|NCIT:C84777|DOID:0060877|UMLS:C0432306|UMLS:C1838440|GARD:0002966|MESH:D053560|SCTID:254169002|OMIM:146800 https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens owl:Class MONDO:0009323 biolink:NamedThing Halothane hepatitis tmpte7i6ely_mondo_relaxed.owl Halothane hepatitis MESH:C562477|OMIM:234350|UMLS:C0241913|SCTID:235873001 owl:Class HP:0032158 biolink:NamedThing Unusual infection by anatomical site An unusual infection classified by the affected body part. tmpte7i6ely_mondo_relaxed.owl 2018-12-09 12:17:59+00:00 peter human_phenotype owl:Class MONDO:0012139 biolink:NamedThing macular dystrophy, retinal, 3 tmpte7i6ely_mondo_relaxed.owl macular dystrophy, retinal, 3|MCDR3|macular dystrophy, retinal, type 3|Mcdr3 UMLS:C3888009|OMIM:608850 owl:Class MONDO:0024538 biolink:NamedThing basal ganglia calcification, idiopathic, 1 tmpte7i6ely_mondo_relaxed.owl basal ganglia calcification, idiopathic, 1|IBGC1|idiopathic basal ganglia calcification 1|striopallidodentate calcinosis, autosomal dominant, adult-onset|basal ganglia calcification, idiopathic, type 1|ferrocalcinosis, cerebrovascular|Fahr disease, familial|Fahr disease, familial, formerly|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, idiopathic, 3|basal ganglia calcification, idiopathic, 3, formerly|striopallidodentate calcinosis, bilateral OMIM:213600|UMLS:C0393590|Orphanet:1980|NCIT:C129973 owl:Class MONDO:0006174 biolink:NamedThing cortisol-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. tmpte7i6ely_mondo_relaxed.owl cortisol-producing adrenal cortex adenoma|cortisol producing adrenal cortical adenoma|cortisol producing adrenal cortex adenoma NCIT:C48449|UMLS:C1707525|EFO:1000208 owl:Class MONDO:0011310 biolink:NamedThing long chain fatty acids, defect in transport of tmpte7i6ely_mondo_relaxed.owl long chain fatty acids, defect in TRANSPORT OF OMIM:603376 owl:Class NCBITaxon:47570 biolink:NamedThing Schizotrypanum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0090087 biolink:NamedThing regulation of peptide transport Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012599 biolink:NamedThing hypertension, essential, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl HYT8|hypertension, essential, susceptibility to, 8 OMIM:611014 owl:Class MONDO:0007887 biolink:NamedThing leiomyoma of vulva and esophagus tmpte7i6ely_mondo_relaxed.owl leiomyomatosis, esophagogastric and vulvar|leiomyoma of vulva and esophagus|esophagogastric and vulvar leiomyomatosis OMIM:150700|UMLS:C1835488|GARD:0010097|Orphanet:1018|MESH:C537006 https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus owl:Class MONDO:0022500 biolink:NamedThing arthrogryposis multiplex congenita CNS calcification A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle. tmpte7i6ely_mondo_relaxed.owl GARD:0000785 https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification owl:Class UBERON:0004246 biolink:NamedThing outflow tract smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015164 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). tmpte7i6ely_mondo_relaxed.owl AML and myelodysplastic syndromes related to alkylating agent UMLS:CN197504|ICD10:C92.8|Orphanet:102379 owl:Class MONDO:0060489 biolink:NamedThing 46,XX sex reversal 4 tmpte7i6ely_mondo_relaxed.owl 46,XX Sex reversal, Sry-Negative|46,XX SEX reversal 4|SRXX4 DOID:0111764|OMIM:617480 owl:Class MONDO:0024382 biolink:NamedThing circadian rhythm sleep disorder, shift work type A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors. tmpte7i6ely_mondo_relaxed.owl circadian rhythm sleep disorder of shift work type|shift work disorder ICD10:G47.26|SCTID:713498009 owl:Class MONDO:0013027 biolink:NamedThing posterior amorphous corneal dystrophy Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. tmpte7i6ely_mondo_relaxed.owl chromosome 12Q21.33 deletion syndrome|corneal dystrophy, POSTERIOR amorphous|posterior amorphous stromal dystrophy|PACD|posterior amorphous corneal dystrophy DOID:0060452|Orphanet:98971|SCTID:719296002|MESH:C567546|ICD10:H18.5|OMIM:612868|UMLS:C2748502 owl:Class MONDO:0015672 biolink:NamedThing diprosopus Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases. tmpte7i6ely_mondo_relaxed.owl Diprosopia|craniofacial duplication Orphanet:1681|SCTID:62192003|GARD:0001876 owl:Class MONDO:0018731 biolink:NamedThing lethal multiple congenital anomalies/dysmorphic syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:459787 owl:Class HGNC:20311 biolink:NamedThing CHAMP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020504 biolink:NamedThing genetic recurrent myoglobinuria Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. tmpte7i6ely_mondo_relaxed.owl OMIM:268200|ICD10:R82.1|Orphanet:99845|SCTID:716721003|OMIM:550500 owl:Class MONDO:0002907 biolink:NamedThing intracranial thrombosis Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis. tmpte7i6ely_mondo_relaxed.owl cerebral thrombosis ICD9:434.0|UMLS:C0752143|MESH:D020767|DOID:4193|ICD9:434.00|SCTID:71444005 owl:Class NCBITaxon:1489845 biolink:NamedThing Gadoidei tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0031650 biolink:NamedThing Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. tmpte7i6ely_mondo_relaxed.owl 2017-12-17 15:17:45+00:00 peter human_phenotype owl:Class MONDO:0060551 biolink:NamedThing cerebellar atrophy, developmental delay, and seizures tmpte7i6ely_mondo_relaxed.owl CADEDS|cerebellar atrophy, developmental delay, and seizures UMLS:C4539985|OMIM:617643 owl:Class MONDO:0003330 biolink:NamedThing urinary tract obstruction Blockage of the normal flow of contents of the urinary tract. tmpte7i6ely_mondo_relaxed.owl obstructive uropathy|urinary obstruction ICD10:N13.9|ICD9:599.60|NCIT:C79805|SCTID:7163005|DOID:5200|UMLS:C0178879|NCIT:C3675|ICD9:599.6 owl:Class MONDO:0007314 biolink:NamedThing chemodectoma, intraabdominal, with cutaneous angiolipomas tmpte7i6ely_mondo_relaxed.owl abdominal chemodectomas with cutaneous angiolipomas|chemodectoma, intraabdominal, with cutaneous angiolipomas MESH:C535552|GARD:0001265|OMIM:118350|UMLS:C2930928 owl:Class NCBITaxon:6947 biolink:NamedThing Prostigmata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007790 biolink:NamedThing Charcot-Marie-Tooth disease type 3 tmpte7i6ely_mondo_relaxed.owl CMT3|HMSN3|Dejerine-Sottas neuropathy|Charcot-Marie-Tooth disease type 3|hypertrophic neuropathy of infancy|hereditary motor and sensory neuropathy type III|HMSN 3|DSN|hereditary motor and sensory neuropathy type 3|Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease, type 3|hereditary motor and sensory neuropathy 3|HMSN III|hypertrophic neuropathy of Dejerine-Sottas NCIT:C133087|UMLS:C0011195|ICD10:G60.0|DOID:0050540|SCTID:111499002|OMIM:145900|GARD:0009204|Orphanet:64748 Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit owl:Class MONDO:0002543 biolink:NamedThing adult oligodendroglioma An oligodendroglioma occurring during adulthood. tmpte7i6ely_mondo_relaxed.owl adult brain oligodendroglioma|oligodendroglioma|oligodendroglioma of adults|adult oligodendroglioma|grade II adult oligodendroglial tumor UMLS:C0279070|NCIT:C4014|MESH:D009837|DOID:3186 owl:Class NCBITaxon:181088 biolink:NamedThing Haemaphysalis flava tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033816 biolink:NamedThing thygeson superficial punctate keratopathy An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. tmpte7i6ely_mondo_relaxed.owl Orphanet:519406 owl:Class MONDO:0019725 biolink:NamedThing pediatric systemic lupus erythematosus tmpte7i6ely_mondo_relaxed.owl SLE, pediatric onset ICD10:M32.1|ICD10:M32.0|ICD10:M32.8|Orphanet:93552|ICD10:M32.9 owl:Class HP:0100324 biolink:NamedThing Scleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. tmpte7i6ely_mondo_relaxed.owl Progressive systemic scleroderma|Pseudoscleroderma UMLS:C1274865|SNOMEDCT_US:403524003|MSH:D012594|UMLS:C0011644|SNOMEDCT_US:89155008 A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. doelkens 2010-08-10T04:14:42Z HP:0001594|HP:0007426 human_phenotype owl:Class HGNC:13339 biolink:NamedThing KIF4A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019799 biolink:NamedThing hepatoerythropoietic porphyria Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. tmpte7i6ely_mondo_relaxed.owl hep MESH:D017121|GARD:0006169|SCTID:111386004|UMLS:C0162569|OMIM:176100|ICD10:E80.2|DOID:5230|NCIT:C84754|Orphanet:95159 owl:Class MONDO:0010289 biolink:NamedThing intellectual disability, X-linked 72 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 72|MRX72|intellectual disability, X-linked 72|intellectual disability, X-linked type 72|mental retardation, X-linked type 72 MESH:C564547|Orphanet:777|UMLS:C1846038|OMIM:300271 owl:Class MONDO:0006193 biolink:NamedThing endometrial hyperplasia without atypia Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia. tmpte7i6ely_mondo_relaxed.owl typical endometrial hyperplasia EFO:1000234|ICD9:621.34|NCIT:C40157|SCTID:134031000119108 owl:Class MONDO:0006280 biolink:NamedThing lung sclerosing hemangioma A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic. tmpte7i6ely_mondo_relaxed.owl Pneumocytoma|pulmonary sclerosing hemangioma|sclerosing angioma of lung|sclerosing hemangioma of lung|sclerosing angioma of the lung|sclerosing hemangioma|sclerosing haemangioma|sclerosing Pneumocytoma|lung sclerosing hemangioma|sclerosing hemangioma of the lung|lung sclerosing angioma MESH:D047868|NCIT:C5656|ICD9:228.09|DOID:495|UMLS:C1509148|DOID:5766|EFO:1000337|SCTID:707365008 Editor note: we beieve the 3 DO classes are equivalent MONDO:0006934 owl:Class MONDO:0010963 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 6 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 6|DFNA14|deafness, autosomal dominant 14|autosomal dominant deafness 38|autosomal dominant deafness 6|autosomal dominant nonsyndromic deafness caused by mutation in WFS1|DFNA6|autosomal dominant nonsyndromic deafness type 6|deafness, autosomal dominant 6|WFS1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 38|deafness, autosomal dominant type 6|DFNA38|autosomal dominant deafness 14 Orphanet:90635|ICD10:H90.3|UMLS:C1833021|DOID:0110584|OMIM:600965|MESH:C563421 owl:Class UBERON:0035495 biolink:NamedThing hilum of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020708 biolink:NamedThing brachial amyotrophic diplegia A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction. tmpte7i6ely_mondo_relaxed.owl BAD|brachial amyotrophic diplegia|man-in-barrel syndrome|FAS|flail arm syndrome NCIT:C133085 owl:Class HP:0002113 biolink:NamedThing Pulmonary infiltrates tmpte7i6ely_mondo_relaxed.owl Pulmonic infiltration|Lung infiltrates UMLS:C0235896 human_phenotype owl:Class HP:0031983 biolink:NamedThing Abnormal pulmonary thoracic imaging finding This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. tmpte7i6ely_mondo_relaxed.owl Abnormal chest radiograph finding (lung) 2018-07-08 13:38:01+00:00 peter human_phenotype owl:Class GO:1901860 biolink:NamedThing positive regulation of mitochondrial DNA metabolic process Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process. tmpte7i6ely_mondo_relaxed.owl upregulation of mtDNA metabolic process|up regulation of mitochondrial DNA metabolic process|up regulation of mitochondrial DNA metabolism|activation of mitochondrial DNA metabolic process|positive regulation of mitochondrial DNA metabolism|up-regulation of mtDNA metabolism|up-regulation of mitochondrial DNA metabolism|up regulation of mtDNA metabolism|activation of mitochondrial DNA metabolism|positive regulation of mtDNA metabolism|upregulation of mitochondrial DNA metabolism|positive regulation of mtDNA metabolic process|activation of mtDNA metabolism|upregulation of mtDNA metabolism|upregulation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolic process|activation of mtDNA metabolic process|up-regulation of mtDNA metabolic process|up regulation of mtDNA metabolic process owl:Class MONDO:0044308 biolink:NamedThing bardet-biedl syndrome 21 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). tmpte7i6ely_mondo_relaxed.owl BBS21|Bardet-Biedl syndrome 21 OMIM:617406|UMLS:C4319932|Orphanet:110 owl:Class HP:0031899 biolink:NamedThing Abnormal coagulation factor V activity Any deviation from the activity of coagulation factor V. tmpte7i6ely_mondo_relaxed.owl Abnormal factor V activity 2018-05-19 15:11:38+00:00 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. peter human_phenotype owl:Class MONDO:0015390 biolink:NamedThing proboscis lateralis Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. tmpte7i6ely_mondo_relaxed.owl congenital tubular nose SCTID:715828006|ICD10:Q30.8|UMLS:C4274985|Orphanet:141099 owl:Class MONDO:0010468 biolink:NamedThing aneurysm, intracranial berry, 5 tmpte7i6ely_mondo_relaxed.owl aneurysm, intracranial BERRY, 5|ANIB5 OMIM:300870|MESH:C563670|UMLS:C1835857 owl:Class MONDO:0001098 biolink:NamedThing separation anxiety disorder An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. tmpte7i6ely_mondo_relaxed.owl SCTID:11806006|MESH:D001010|NCIT:C35014|EFO:1001916|DOID:10685 owl:Class PATO:0001592 biolink:NamedThing increased curvature A curvature which is relatively high. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016975 biolink:NamedThing thymoma type AB A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years. tmpte7i6ely_mondo_relaxed.owl thymoma type AB|primary thymic epithelial neoplasm type AB|primary thymic epithelial tumor type AB|mixed type thymoma|thymoma, mixed type NCIT:C6885|Orphanet:263324|ICD10:C37|EFO:1000582|DOID:3280|ICDO:8582/1|UMLS:C1266092|ICD10:D15.0 owl:Class MONDO:0004287 biolink:NamedThing pancreatic foamy gland adenocarcinoma A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. tmpte7i6ely_mondo_relaxed.owl pancreatic foamy gland adenocarcinoma DOID:7577|NCIT:C37256|UMLS:C1335303 owl:Class MONDO:0009354 biolink:NamedThing methylcobalamin deficiency type cblE An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. tmpte7i6ely_mondo_relaxed.owl homocystinuria-megaloblastic anemia, cblE complementation type|vitamin B12-responsive homocystinuria, cblE type|homocystinuria due to defect in methylation Cbl e|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|methylcobalamin deficiency, cblE type|functional methionine synthase deficiency type cblE|methylmalonic aciduria and homocystinuria type cblE|methylcobalamin deficiency type cblE|HMAE NCIT:C142173|Orphanet:622|EFO:0005568|MESH:C565510|GARD:0002732|ICD10:E72.1|UMLS:C1856057|DOID:0050732|Orphanet:2169|OMIM:236270 owl:Class MONDO:0016018 biolink:NamedThing diabetic embryopathy Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother. tmpte7i6ely_mondo_relaxed.owl UMLS:C3830518|Orphanet:1926|OMIM:601759|NCIT:C113485|SCTID:716020005|ICD10:P00.4 owl:Class MONDO:0016678 biolink:NamedThing maternal disease-related embryofetopathy tmpte7i6ely_mondo_relaxed.owl UMLS:CN201921|Orphanet:251535 owl:Class MONDO:0019309 biolink:NamedThing late-onset junctional epidermolysis bullosa Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood. tmpte7i6ely_mondo_relaxed.owl JEB-lo|EB progressive UMLS:CN205949|ICD10:Q81.8|SCTID:719432000|Orphanet:79406|UMLS:C4304724|GARD:0012921 https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa owl:Class MONDO:0022401 biolink:NamedThing agyria pachygyria polymicrogyria Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. tmpte7i6ely_mondo_relaxed.owl GARD:0000572 https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria owl:Class CL:1000547 biolink:NamedThing kidney inner medulla collecting duct epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001061 cell owl:Class MONDO:0014121 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures tmpte7i6ely_mondo_relaxed.owl autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|SMALED2|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant Orphanet:363447|UMLS:C3809049|GARD:0013222|Orphanet:363454|OMIM:615290|ICD10:G12.1 owl:Class MONDO:0013533 biolink:NamedThing hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. tmpte7i6ely_mondo_relaxed.owl hyperlipidemia due to HL deficiency|hyperlipidemia due to hepatic lipase deficiency|hyperlipidemia due to HTGL deficiency|HL deficiency|hyperlipidemia due to hepatic triacylglycerol lipase deficiency|lipc deficiency|hepatic lipase deficiency ICD10:E78.4|UMLS:C3151466|OMIM:614025|Orphanet:140905|GARD:0012864|SCTID:720940008 owl:Class HGNC:4798 biolink:NamedThing HABP2 tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000522 biolink:NamedThing exposure to mitochondrial respiratory-chain inhibitor An exposure to mitochondrial respiratory-chain inhibitor. tmpte7i6ely_mondo_relaxed.owl exposure to mitochondrial respiratory-chain inhibitor owl:Class MONDO:0005808 biolink:NamedThing inclusion conjunctivitis Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. tmpte7i6ely_mondo_relaxed.owl neonatal Chlamydia conjunctivitis|Paratrachoma|Chlamydial conjunctivitis|inclusion blenorrhea|inclusion blennorrhoea|adult inclusion conjunctivitis|Trachoma ICD9:077.0|ICD10:A74.0|ICD9:077.98|EFO:0007324|GARD:0006777|NCIT:C116817|DOID:13800|UMLS:C0009770|SCTID:231861005|MESH:D003235 https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis owl:Class MONDO:0001945 biolink:NamedThing postencephalitic Parkinson disease A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. tmpte7i6ely_mondo_relaxed.owl postencephalitic Parkinsonism|postencephalitic parkinsonism DOID:14332|ICD10:G21.3|MESH:D010301|EFO:1001402|Orphanet:97349|NCIT:C34898|UMLS:C0030568|SCTID:19972008 owl:Class MONDO:0001169 biolink:NamedThing spastic monoplegia A spastic cerebral palsy that affects only one limb. tmpte7i6ely_mondo_relaxed.owl monoplegic infantile cerebral palsy|infantile monoplegic cerebral palsy|spastic monoplegic cerebral palsy ICD9:343.3|MESH:D002547|UMLS:C0154698|DOID:10968 owl:Class MONDO:0000396 biolink:NamedThing spastic cerebral palsy A form of cerebral palsy wherein spasticity is the exclusive impairment present. tmpte7i6ely_mondo_relaxed.owl hypertonic cerebral palsy UMLS:C0338596|NCIT:C116903|SCTID:230773005|ICD9:344.89|DOID:0050669 owl:Class MONDO:0012390 biolink:NamedThing arthrogryposis multiplex with deafness, inguinal hernias, and early death tmpte7i6ely_mondo_relaxed.owl arthrogryposis multiplex with deafness, inguinal hernias, and early death UMLS:C1864939|OMIM:610001|GARD:0009946|MESH:C535381 https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death owl:Class MONDO:0032779 biolink:NamedThing neurodevelopmental disorder with microcephaly and structural brain anomalies tmpte7i6ely_mondo_relaxed.owl NEDMIBA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES OMIM:618492 owl:Class MONDO:0014671 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6B Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene. tmpte7i6ely_mondo_relaxed.owl SLC25A46 hereditary motor and sensory neuropathy type 6|CMT6B|HMSN 6B|neuropathy, hereditary motor and sensory, type 6B|hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46|neuropathy, hereditary motor and sensory, type VIB|HMSN6B|Charcot-Marie-Tooth disease, type 6B EFO:0009075|UMLS:C4225302|OMIM:616505|Orphanet:90120 owl:Class MONDO:0600009 biolink:NamedThing severe hypophosphatasia Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0016614 biolink:NamedThing autosomal recessive ataxia due to PEX10 deficiency tmpte7i6ely_mondo_relaxed.owl mild peroxismal disorder due to PEX10 deficiency UMLS:CN201819|Orphanet:247815|ICD10:G11.8 Editor note: TODO add gene owl:Class MONDO:0020397 biolink:NamedThing parachute tricuspid valve Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations. tmpte7i6ely_mondo_relaxed.owl ICD10:Q22.8|Orphanet:99056 owl:Class MONDO:0011384 biolink:NamedThing hypertension, essential, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl Hyt1|hypertension, essential, susceptibility to, 1|hypertension, essential, susceptibility to, type 1 OMIM:603918 owl:Class MONDO:0018820 biolink:NamedThing recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. tmpte7i6ely_mondo_relaxed.owl TANGO2 deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration|MECRCN|transport and golgi organization protein 2 (TANGO2) deficiency OMIM:616878|GARD:0013423|UMLS:C4225171|UMLS:CN776869|Orphanet:480864 https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias owl:Class MONDO:0018039 biolink:NamedThing selective IgM deficiency Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement. tmpte7i6ely_mondo_relaxed.owl selective immunoglobulin M deficiency|SIgMD|selective IgM deficiency disease ICD10:D80.4|GARD:0012547|DOID:0050222|Orphanet:331235|ICD9:279.02|SCTID:190980000 https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency owl:Class MONDO:0016444 biolink:NamedThing primary anetoderma Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause. tmpte7i6ely_mondo_relaxed.owl primary macular atrophy UMLS:C0406550|SCTID:238829001|MESH:D057088|ICD10:L90.2|Orphanet:228272|ICD10:L90.1 owl:Class MONDO:0009593 biolink:NamedThing spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. tmpte7i6ely_mondo_relaxed.owl metaphyseal chondrodysplasia, congenital lethal|spondylometaphyseal dysplasia, Sedaghatian type|Sedaghatian chondrodysplasia|SMDS|spondylometaphyseal dysplasia Sedaghatian type|lethal metaphyseal dysplasia MESH:C535798|OMIM:250220|ICD10:Q77.8|UMLS:C1855229|GARD:0004993|Orphanet:93317 https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type owl:Class MONDO:0008955 biolink:NamedThing cerebrooculofacioskeletal syndrome 1 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. tmpte7i6ely_mondo_relaxed.owl Pena-Shokeir syndrome, type 2|cerebrooculofacioskeletal syndrome type 1|COFS syndrome|ERCC6 COFS syndrome|COFS syndrome caused by mutation in ERCC6|cerebrooculofacioskeletal syndrome 1|COFS1 Orphanet:191|UMLS:C0220722|Orphanet:1466|OMIM:214150 owl:Class MONDO:0002139 biolink:NamedThing sigmoid disease Pathological processes in the sigmoid colon region of the large intestine (intestine, large). tmpte7i6ely_mondo_relaxed.owl UMLS:C0037072|DOID:1897|MESH:D012810 owl:Class MONDO:0001418 biolink:NamedThing trachea sarcoma A rare malignant soft tissue neoplasm that arises from the trachea. tmpte7i6ely_mondo_relaxed.owl tracheal sarcoma|sarcoma of trachea|trachea sarcoma|sarcoma of the trachea UMLS:C1336774|NCIT:C6050|DOID:12002 owl:Class NCBITaxon:5506 biolink:NamedThing Fusarium tmpte7i6ely_mondo_relaxed.owl Rectifusarium|Albonectria|Haematonectria|Bisifusarium|Neocosmospora|Geejayessia|Gibberella|Cyanonectria PMID:33200960|PMID:23379853|GC_ID:1|PMID:30728601 NCBITaxon:40620|NCBITaxon:1634940|NCBITaxon:342329|NCBITaxon:140105|NCBITaxon:5126 ncbi_taxonomy owl:Class NCBITaxon:110618 biolink:NamedThing Nectriaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:307520 ncbi_taxonomy owl:Class HGNC:5213 biolink:NamedThing HSD17B4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15954 biolink:NamedThing TOE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016424 biolink:NamedThing progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. tmpte7i6ely_mondo_relaxed.owl progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome OMIM:606346|UMLS:CN201381|Orphanet:228012 Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this owl:Class MONDO:0008754 biolink:NamedThing alopecia - contractures - dwarfism - intellectual disability syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. tmpte7i6ely_mondo_relaxed.owl ACD-intellectual disability syndrome|alopecia-contractures-dwarfism intellectual disability syndrome|alopecia-contractures-dwarfism mental retardation syndrome|ACD mental retardation syndrome|ACD intellectual disability syndrome OMIM:203550|MESH:C537051|ICD10:Q87.8|UMLS:C0795895|GARD:0000605|Orphanet:1005 https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome owl:Class MONDO:0003055 biolink:NamedThing secretory meningioma A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen. tmpte7i6ely_mondo_relaxed.owl secretory meningioma (morphologic abnormality)|secretory meningioma NCIT:C4718|UMLS:C1384406|EFO:1000522|MESH:D008579|DOID:4588 owl:Class MONDO:0006811 biolink:NamedThing intracranial hypotension Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) tmpte7i6ely_mondo_relaxed.owl DOID:4723|MESH:D019585|MedDRA:10049977|EFO:1000993|UMLS:C0524812|SCTID:433691000124104|ICD9:349.89 owl:Class HGNC:44 biolink:NamedThing TAP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014179 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. tmpte7i6ely_mondo_relaxed.owl inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3|IBMPFD3|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 3|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3 Orphanet:52430|OMIM:615424|DOID:0111386|UMLS:C3809469 owl:Class MONDO:0009191 biolink:NamedThing Lowry-Wood syndrome Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, microcephaly, and NYSTAGMUS|Lowry Wood syndrome|LWS|epiphyseal dysplasia-microcephaly-nystagmus syndrome|epiphyseal dysplasia, microcephaly and nystagmus|Lowry-Wood syndrome ICD10:Q87.5|MedDRA:10062600|UMLS:C0796021|OMIM:226960|SCTID:721975004|Orphanet:1824|MESH:C537038|GARD:0000264 https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome owl:Class GO:0019211 biolink:NamedThing phosphatase activator activity Binds to and increases the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008200 biolink:NamedThing autosomal dominant Parkinson disease 1 tmpte7i6ely_mondo_relaxed.owl autosomal dominant Parkinson's disease 1|Parkinson disease 1, autosomal dominant Lewy body|PARK1|atypical Parkinson disease|Parkinson disease 1, autosomal dominant|autosomal dominant Parkinson disease type 1|autosomal dominant Parkinson disease 1 MESH:C566823|DOID:0060367|OMIM:168601|Orphanet:411602|Orphanet:171695 Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation owl:Class MONDO:0007421 biolink:NamedThing deafness-ear malformation-facial palsy syndrome Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Sellars-Beighton syndrome|deafness, conductive stapedial, with EAR malformation and facial palsy Orphanet:3232|SCTID:716243005|MESH:C565123|ICD10:Q87.0|OMIM:124490 owl:Class MONDO:0008613 biolink:NamedThing Tuftsin deficiency tmpte7i6ely_mondo_relaxed.owl Tuftsin deficiency OMIM:191150|ICD9:279.03|SCTID:234584007|UMLS:C0398741|MESH:C562872 owl:Class HGNC:29110 biolink:NamedThing KIAA0753 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0037742 biolink:NamedThing endometrioid stromal and related neoplasms A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites. tmpte7i6ely_mondo_relaxed.owl endometrioid stromal and related neoplasms|endometrioid stromal and related tumors UMLS:C4287868|NCIT:C8384 owl:Class MONDO:0100369 biolink:NamedThing iatrogenic or non-iatrogenic A iatrogenic or non-iatrogenic form of a disease. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:1689 biolink:NamedThing CD59 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033556 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 tmpte7i6ely_mondo_relaxed.owl MDDGB15|Muscular Dystrophy, Congenital, Dpm3-Related|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 OMIM:618992 owl:Class MONDO:0030961 biolink:NamedThing Olmsted syndrome 2 tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2|OLMS2|Olmsted syndrome 2 OMIM:619208 owl:Class MONDO:0014029 biolink:NamedThing osteogenesis imperfecta type 14 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta type XIV|osteogenesis imperfecta caused by mutation in TMEM38B|osteogenesis imperfecta, type XIV|OI14|OI, type 14|TMEM38B osteogenesis imperfecta|osteogenesis imperfecta, type 14 DOID:0110343|UMLS:C3554428|Orphanet:666|OMIM:615066|ICD10:Q78.0|Orphanet:216820 owl:Class MONDO:0023193 biolink:NamedThing Friedman Goodman syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002387 https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome owl:Class MONDO:0003865 biolink:NamedThing acral lentiginous melanoma A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells. tmpte7i6ely_mondo_relaxed.owl palmar/plantar melanoma|acral lentiginous malignant melanoma of skin|ALM|acral lentiginous melanoma (disease)|malignant acral lentiginous melanoma|acral lentiginous melanoma|subungual melanoma|acral lentiginous malignant melanoma|acral melanoma|acral lentiginous melanoma, malignant|acral lentiginous melanoma, malignant (morphologic abnormality) acral lentiginous melanoma (disease) GARD:0009570|UMLS:C0346037|ONCOTREE:ACRM|NCIT:C4022|SCTID:254732008|ICDO:8744/3|DOID:6367|HP:0012060 Editor note: check ONCOTREE mapping owl:Class MONDO:0001130 biolink:NamedThing nasal cavity lymphoma A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. tmpte7i6ely_mondo_relaxed.owl lymphoma of nasal cavity|lymphoma of the nasal cavity|nasal cavity lymphoma|primary nasal cavity lymphoma UMLS:C1334921|DOID:10813|NCIT:C6074 owl:Class CL:0008008 biolink:NamedThing striated visceral muscle cell A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003302 biolink:NamedThing epithelioid neurofibroma A rare neurofibroma with epithelioid morphology. tmpte7i6ely_mondo_relaxed.owl epithelioid neurofibroma DOID:5149|UMLS:C1275264|SCTID:404032008|NCIT:C6558|ICD9:215.9 owl:Class UBERON:0008909 biolink:NamedThing perichordal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019848 biolink:NamedThing posterior hypospadias Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. tmpte7i6ely_mondo_relaxed.owl perineal, scrotal or penoscrotal hypospadias ICD10:Q54.3|ICD10:Q54.2|Orphanet:95706 owl:Class HGNC:9075 biolink:NamedThing SERPINF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001827 biolink:NamedThing white piedra A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. tmpte7i6ely_mondo_relaxed.owl Tinea blanca MESH:D010854|UMLS:C0040249|UMLS:C0031898|ICD10:B36.2|SCTID:402135006|ICD9:111.2|DOID:13902|SCTID:35586003 owl:Class MONDO:0007859 biolink:NamedThing palmoplantar keratoderma i, striate, focal, or diffuse tmpte7i6ely_mondo_relaxed.owl keratoderma, palmoplantar, striate form 1|SPPK1|keratoderma, palmoplantar striate form 1|palmoplantar keratoderma I, striate, focal, or diffuse|striate palmoplantar keratoderma 1|keratosis palmoplantaris striata 1|palmoplantar keratoderma i, striate, focal, or diffuse|PPKS1 MESH:C536162|GARD:0009172|Orphanet:369999|OMIM:148700|Orphanet:370002|Orphanet:50942 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class MONDO:0008065 biolink:NamedThing nasal groove, familial transverse tmpte7i6ely_mondo_relaxed.owl nasal groove, familial transverse UMLS:C1834370|OMIM:161500 owl:Class HGNC:13478 biolink:NamedThing UBE3B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004344 biolink:NamedThing childhood malignant hemangiopericytoma A malignant hemangiopericytoma occurring in childhood. tmpte7i6ely_mondo_relaxed.owl malignant childhood hemangiopericytoma|malignant pediatric hemangiopericytoma|malignant hemangiopericytoma DOID:7731|NCIT:C8090|UMLS:C0279983 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0003915 biolink:NamedThing cortical thymoma A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently. tmpte7i6ely_mondo_relaxed.owl thymoma, cortical|polygonal cell thymoma|thymoma type B2|cortical thymoma ICDO:8584/1|NCIT:C6888|UMLS:C1266095|DOID:6530 owl:Class HGNC:3544 biolink:NamedThing F7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003391 biolink:NamedThing vulvar alveolar soft part sarcoma An alveolar soft part sarcoma arising from the vulva. tmpte7i6ely_mondo_relaxed.owl NCIT:C40320|UMLS:C1520069|DOID:5313 owl:Class MONDO:0022946 biolink:NamedThing deafness progressive cataract autosomal dominant tmpte7i6ely_mondo_relaxed.owl GARD:0001702 https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant owl:Class MONDO:0030896 biolink:NamedThing chromosome 13q33-q34 deletion syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:619148 owl:Class MONDO:0011430 biolink:NamedThing pulverulent cataract A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33. tmpte7i6ely_mondo_relaxed.owl Coppock-like cataract|dusty cataract|pulverulent cataract OMIM:116300|Orphanet:98995|UMLS:CN207240|Orphanet:98984|Orphanet:98986|UMLS:C1833118|ICD10:Q12.0|MESH:C565133|Orphanet:91492 https://github.com/monarch-initiative/mondo/issues/3904 owl:Class MONDO:0002630 biolink:NamedThing small cell osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable. tmpte7i6ely_mondo_relaxed.owl small cell osteosarcoma|SCOS|round cell osteosarcoma DOID:3377|ICDO:9185/3|UMLS:C0279622|ONCOTREE:SCOS|NCIT:C4023 owl:Class NCIT:C15497 biolink:NamedThing Progesterone Receptor Negative tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016114 biolink:NamedThing bulbospinal muscular atrophy of childhood A bulbospinal muscular atrophy that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl bulbospinal muscular atrophy of childhood|pediatric bulbospinal muscular atrophy|childhood bulbospinal muscular atrophy ICD10:G12.2|Orphanet:206704 owl:Class GO:0033490 biolink:NamedThing cholesterol biosynthetic process via lathosterol The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. tmpte7i6ely_mondo_relaxed.owl cholesterol anabolism via lathosterol|cholesterol formation via lathosterol|cholesterol synthesis via lathosterol|cholesterol biosynthesis via lathosterol owl:Class GO:0006695 biolink:NamedThing cholesterol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpte7i6ely_mondo_relaxed.owl cholesterol biosynthesis|cholesterol synthesis|cholesterol formation|cholesterol anabolism owl:Class MONDO:0020686 biolink:NamedThing acute tonsillitis An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes. tmpte7i6ely_mondo_relaxed.owl acute adenoiditis|infective tonsillitis|acute tonsillitis SCTID:17741008|ICD9:463|NCIT:C97142|UMLS:C0001361 owl:Class MONDO:0020637 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a partial deficiency tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013025 biolink:NamedThing chromosome 6q24-q25 deletion syndrome 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. tmpte7i6ely_mondo_relaxed.owl monosomy 6q25|Del(6)(q25)|6q25 microdeletion syndrome|chromosome 6q24-q25 deletion syndrome|chromosome 6q25 microdeletion syndrome|deletion 6q25|del(6q25) Orphanet:251056|ICD10:Q93.5|UMLS:C3150215|NCIT:C36470|DOID:0060424|UMLS:C4304527|SCTID:719663005|GARD:0003764|OMIM:612863 owl:Class MONDO:0019202 biolink:NamedThing myxofibrosarcoma A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. tmpte7i6ely_mondo_relaxed.owl MFS|myxoid MFH|myxofibrosarcoma|fibromyxosarcoma|myxoid fibrous histiocytoma|myxoid malignant fibrous histiocytoma ONCOTREE:MFS|ICD10:C49.9|NCIT:C6496|SCTID:253042009|ICDO:8811/3|Orphanet:79105|DOID:0080534|MedDRA:10066948 owl:Class MONDO:0012737 biolink:NamedThing long QT syndrome 10 Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene. tmpte7i6ely_mondo_relaxed.owl long QT syndrome type 10|SCN4B long QT syndrome|long QT syndrome caused by mutation in SCN4B|long QT syndrome 10|LQT10|atrial fibrillation, familial, 17 UMLS:C2678484|OMIM:611819|MESH:C567514|ICD10:I45.8|Orphanet:768|DOID:0110651|Orphanet:101016|Orphanet:334|GARD:0010436 https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 owl:Class FOODON:00001854 biolink:NamedThing fish food product analog tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007879 biolink:NamedThing larynx atresia A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. tmpte7i6ely_mondo_relaxed.owl laryngeal atresia|congenital atresia of larynx|larynx, congenital partial atresia OF|congenital partial atresia of the larynx|congenital atresia of the larynx ICD10:Q31.8|OMIM:150300|GARD:0003194|GARD:0003192|Orphanet:1202|NCIT:C98972|ICD9:748.3|MESH:C563637|UMLS:C0265756|SCTID:64981002 owl:Class MONDO:0010255 biolink:NamedThing diabetes mellitus, insulin-dependent, X-linked, susceptibility to tmpte7i6ely_mondo_relaxed.owl insulin-dependent diabetes mellitus, X-linked, susceptibility to|diabetes mellitus, insulin-dependent, X-linked, susceptibility to|Iddmx UMLS:C1848042|OMIM:300136 owl:Class MONDO:0020175 biolink:NamedThing malignant tumor of palpebral epidermis A cancer that involves the skin of eyelid. tmpte7i6ely_mondo_relaxed.owl malignant skin of eyelid neoplasm|skin of eyelid cancer|cancer of skin of eyelid|malignant neoplasm of skin of eyelid Orphanet:98584|SCTID:423425006|UMLS:CN207035 owl:Class MONDO:0030399 biolink:NamedThing visceral neuropathy, familial, 2, autosomal recessive tmpte7i6ely_mondo_relaxed.owl VSCN2 OMIM:619465 owl:Class HGNC:6458 biolink:NamedThing KRT81 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002444 biolink:NamedThing melancholia A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite. tmpte7i6ely_mondo_relaxed.owl depression with melancholic features|melancholic depression SCTID:35489007|DOID:2848|NCIT:C34812|MESH:D003866 owl:Class UBERON:0001190 biolink:NamedThing ovarian artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022666 biolink:NamedThing cassavism tmpte7i6ely_mondo_relaxed.owl GARD:0010442 https://rarediseases.info.nih.gov/diseases/10442/cassavism owl:Class MONDO:0011423 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. tmpte7i6ely_mondo_relaxed.owl LGMD2E|muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|muscular dystrophy, limb-girdle, type 2E|Beta-sarcoglycan limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB|SGCB autosomal recessive limb-girdle muscular dystrophy|beta-sarcoglycanopathy|limb-girdle muscular dystrophy type 2E|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency OMIM:604286|DOID:0110279|SCTID:718850008|UMLS:C2930900|GARD:0003851|ICD10:G71.0|GARD:0000870|Orphanet:119 owl:Class MONDO:0011755 biolink:NamedThing senior-loken syndrome 3 tmpte7i6ely_mondo_relaxed.owl SLSN3|SENIOR-Loken syndrome 3 OMIM:606995|UMLS:C1846980|Orphanet:3156|MESH:C564637 owl:Class MONDO:0011567 biolink:NamedThing dilated cardiomyopathy 1K A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16. tmpte7i6ely_mondo_relaxed.owl CMD1K|cardiomyopathy, dilated, 1K|dilated cardiomyopathy type 1K UMLS:C1854159|DOID:0110437|MESH:C565320|Orphanet:154|ICD10:I42.0|OMIM:605582 owl:Class MONDO:0008205 biolink:NamedThing patella aplasia/hypoplasia Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. tmpte7i6ely_mondo_relaxed.owl patella aplasia-hypoplasia|familial absence of the patella|absent patella|familial aplasia of the patella (subtype)|PTLAH GARD:0008709|MESH:C535568|Orphanet:86789|OMIM:168860|ICD10:Q74.1 owl:Class MONDO:0022623 biolink:NamedThing CDK4 linked melanoma tmpte7i6ely_mondo_relaxed.owl GARD:0001175 https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma owl:Class MONDO:0016544 biolink:NamedThing IgG4-related mesenteritis Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate). tmpte7i6ely_mondo_relaxed.owl liposclerotic mesenteritis|isolated mesenteric lipodystrophy|mesenteric panniculitis|lipomatous mesenteritis|mesenteric lipogranuloma|sclerosing mesenteritis Orphanet:238593|GARD:0008169|SCTID:1092381000119100|ICD10:K65.8 owl:Class MONDO:0014800 biolink:NamedThing progressive scapulohumeroperoneal distal myopathy tmpte7i6ely_mondo_relaxed.owl myopathy, scapulohumeroperoneal|SHPM ICD10:G71.0|UMLS:C4225181|OMIM:616852|Orphanet:447977 owl:Class NCBITaxon:2732462 biolink:NamedThing Flasuviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1903010 biolink:NamedThing regulation of bone development Any process that modulates the frequency, rate or extent of bone development. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024303 biolink:NamedThing external hirudiniasis The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate. tmpte7i6ely_mondo_relaxed.owl SCTID:1086871000119109|ICD10:B88.3|UMLS:C0392037 owl:Class MONDO:0021747 biolink:NamedThing Acanthamoeba infectious disease A infectious disease involving the Acanthamoeba. tmpte7i6ely_mondo_relaxed.owl infection by Acanthamoeba|infections, Acanthamoeba|Acanthamoeba infection|infection caused by Acanthamoeba|acanthamoebiasis|acanthamoebosis SCTID:49649001 owl:Class MONDO:0008184 biolink:NamedThing pancreas, dorsal, agenesis of tmpte7i6ely_mondo_relaxed.owl pancreas, dorsal, agenesis of|partial agenesis of the dorsal pancreas|congenital short pancreas|pancreas agenesis, dorsal|agenesis of the dorsal pancreas|complete agenesis of the dorsal pancreas MESH:C538109|Orphanet:2805|OMIM:167755|GARD:0004203|UMLS:C1868659 owl:Class CL:2000030 biolink:NamedThing hypothalamus cell Any native cell that is part of a hypothalamus. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-25T01:17:50Z cell owl:Class MONDO:0011346 biolink:NamedThing xanthinuria type II Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. tmpte7i6ely_mondo_relaxed.owl xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthinuria, type II|type II xanthinuria|XAN2|xanthinuria type 2|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|XDH and AOX dual deficiency|xanthinuria, type 2|type 2 xanthinuria UMLS:C1863688|Orphanet:3467|MESH:C566358|GARD:0005620|ICD10:E79.8|Orphanet:93602|OMIM:603592 https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 owl:Class MONDO:0016000 biolink:NamedThing familial isolated hypoparathyroidism due to impaired PTH secretion tmpte7i6ely_mondo_relaxed.owl OMIM:146200|Orphanet:189466|UMLS:CN200646|ICD10:E20.8 owl:Class MONDO:0007796 biolink:NamedThing hypoparathyroidism, familial isolated 1 tmpte7i6ely_mondo_relaxed.owl FIH1|FIH|hypoparathyroidism familial isolated|hypoparathyroidism, familial isolated 1|hypoparathyroidism, autosomal recessive|hypoparathyroidism, familial isolated|hypoparathyroidism, autosomal dominant Orphanet:189466|SCTID:237657009|UMLS:C1832648|Orphanet:2238|OMIM:146200 owl:Class HGNC:12712 biolink:NamedThing VPS33B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003841 biolink:NamedThing heart lipoma A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue. tmpte7i6ely_mondo_relaxed.owl lipoma of the heart|lipoma of heart|Cardiac lipoma|heart lipoma UMLS:C1332849|NCIT:C6741|DOID:6285 owl:Class MONDO:0010632 biolink:NamedThing developmental and epileptic encephalopathy, 1 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene. tmpte7i6ely_mondo_relaxed.owl West syndrome, X-linked|infantile epileptic-dyskinetic encephalopathy|infantile spasm syndrome, X-linked 1|early infantile epileptic encephalopathy caused by mutation in ARX|Ohtahara syndrome, X-linked|arx early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 1|EIEE1|DEE1|XMESID|ARX early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 1|early infantile epileptic encephalopathy caused by mutation in arx OMIM:308350|DOID:0080468|UMLS:C3463992 owl:Class UBERON:0013479 biolink:NamedThing lung endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0033259 biolink:NamedThing Non-motor seizure A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. tmpte7i6ely_mondo_relaxed.owl 2020-11-28 14:43:08+00:00 This term may be used to code the non-motor seizures of a person who cannot confirm or exclude subjective seizure experiences that would aid more detailed classification as a generalized non-motor (absence) seizure or type of focal non-motor seizure. peter human_phenotype owl:Class MONDO:0015257 biolink:NamedThing sino-auricular heart block tmpte7i6ely_mondo_relaxed.owl UMLS:CN199152|ICD10:I45.5|Orphanet:1260 owl:Class MONDO:0100363 biolink:NamedThing genital herpes simplex type 2 infectious disorder Any herpes simplex type 2 infectious disease that involves the genitals. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0016707 biolink:NamedThing astroblastoma Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches. tmpte7i6ely_mondo_relaxed.owl cerebral astroblastoma|AstB|astroblastoma (morphologic abnormality)|astroblastoma Orphanet:251679|ICDO:9430/3|NCIT:C4324|MESH:D018302|GARD:0010635|ICD10:C71.9|ONCOTREE:ASTB|DOID:7305|UMLS:C0334587 https://rarediseases.info.nih.gov/diseases/10635/astroblastoma owl:Class MONDO:0004225 biolink:NamedThing monoclonal gammopathy of uncertain significance A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. tmpte7i6ely_mondo_relaxed.owl monoclonal gammopathy of undetermined significance|monoclonal gammopathy Of undetermined significance (MGUS)|MGUS|benign monoclonal gammopathy|monoclonal gammopathy of undetermined significance (MGUS)|monoclonal gammopathy of unknown significance|monoclonal gammopathy of undetermined significance (morphologic abnormality)|monoclonal gammopathy, benign EFO:1000836|UMLS:C0026470|MESH:D008998|ONCOTREE:MGUS|GARD:0007034|SCTID:277577000|ICD9:238.6|NCIT:C3996|ICDO:9765/1|SCTID:58648008|DOID:7442 owl:Class HGNC:1952 biolink:NamedThing CHRM3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15853 biolink:NamedThing ARFGEF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005019 biolink:NamedThing diffuse scleroderma A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. tmpte7i6ely_mondo_relaxed.owl systemic sclerosis, diffuse|diffuse systemic sclerosis MESH:D045743|EFO:0000404|NCIT:C116791|DOID:1580 owl:Class MONDO:0009170 biolink:NamedThing endocardial fibroelastosis and coarctation of abdominal aorta tmpte7i6ely_mondo_relaxed.owl endocardial fibroelastosis and coarctation of abdominal aorta UMLS:C1856971|OMIM:226100|MESH:C565592 owl:Class HGNC:804 biolink:NamedThing ATP1B1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:577468 biolink:NamedThing Micrococcales incertae sedis tmpte7i6ely_mondo_relaxed.owl unclassified Micrococcineae GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011139 biolink:NamedThing preaxial hallucal polydactyly tmpte7i6ely_mondo_relaxed.owl preaxial hallucal polydactyly OMIM:601759|MESH:C566632|UMLS:C1866339|Orphanet:1926 owl:Class MONDO:0012809 biolink:NamedThing histiocytoma, Angiomatoid fibrous A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare. tmpte7i6ely_mondo_relaxed.owl angiomatoid malignant fibrous histiocytoma|histiocytoma, Angiomatoid fibrous|AFH|angiomatoid fibrous histiocytoma ICDO:8836/1|UMLS:C1266127|ONCOTREE:AFH|OMIM:612160|NCIT:C6494|Orphanet:569164|MESH:C563181 owl:Class HGNC:8820 biolink:NamedThing PDYN tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00002186 biolink:NamedThing contaminated water tmpte7i6ely_mondo_relaxed.owl polluted water owl:Class MONDO:0013081 biolink:NamedThing lymphoproliferative syndrome 1 A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.. tmpte7i6ely_mondo_relaxed.owl ITK deficiency|LPFS1|ITK lymphoproliferative syndrome|lymphoproliferative syndrome 1|lymphoproliferative syndrome caused by mutation in ITK|lymphoproliferative syndrome type 1 DOID:0060707|ICD10:D47.9|Orphanet:238505|NCIT:C126344|OMIM:613011|MESH:C567815|Orphanet:538963|UMLS:C3552634 owl:Class FOODON:03411301 biolink:NamedThing algae An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016598 biolink:NamedThing autosomal recessive secondary polycythemia not associated with VHL gene tmpte7i6ely_mondo_relaxed.owl autosomal recessive secondary erythrocytosis not associated with VHL gene|autosomal recessive secondary erythrocytosis, non-Chuvash type|autosomal recessive secondary polycythemia, non-Chuvash type UMLS:CN226972|Orphanet:247378|ICD10:D75.1 owl:Class MONDO:0020785 biolink:NamedThing capillary malformation-arteriovenous malformation 2 tmpte7i6ely_mondo_relaxed.owl CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2|CMAVM2 OMIM:618196 owl:Class NCBITaxon:31286 biolink:NamedThing Trypanosoma brucei rhodesiense tmpte7i6ely_mondo_relaxed.owl Trypanosoma (Trypanozoon) brucei rhodesiense|Trypanosoma brucei subsp. rhodesiense GC_ID:1 ncbi_taxonomy owl:Class HGNC:1012 biolink:NamedThing OPN1SW tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017731 biolink:NamedThing glycoproteinosis tmpte7i6ely_mondo_relaxed.owl ICD10:E77.0|GARD:0010670|Orphanet:309279|ICD10:E77.1|ICD10:E77.9|ICD10:E77.8 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis owl:Class MONDO:0013912 biolink:NamedThing hypogonadotropic hypogonadism 10 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene. tmpte7i6ely_mondo_relaxed.owl HH10|hypogonadotropic hypogonadism 10 with or without anosmia|TAC3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in TAC3 UMLS:C3553843|OMIM:614839|DOID:0090089|ICD10:E23.0 owl:Class MONDO:0010322 biolink:NamedThing intellectual disability, X-linked 2 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 2|MRX2|intellectual disability, X-linked 2 OMIM:300428|UMLS:C0796207|MESH:C563135 owl:Class MONDO:8000014 biolink:NamedThing familial antiphospholipid syndrome Autosomal dominant form of antiphospholipid syndrome. tmpte7i6ely_mondo_relaxed.owl Hughes syndrome|antiphospholipid syndrome, familial MESH:C531622|UMLS:C2930802|OMIM:107320|GARD:0005824 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0015462 biolink:NamedThing thin ribs-tubular bones-dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl Sharma-Kapoor-Ramji syndrome UMLS:C2931543|Orphanet:1506|MESH:C537595|ICD10:Q87.5 owl:Class MONDO:0001803 biolink:NamedThing myringitis bullosa hemorrhagica A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. tmpte7i6ely_mondo_relaxed.owl bullous myringitis UMLS:C0155461|ICD10:H73.01|SCTID:33528003|DOID:13791|ICD9:384.01 owl:Class MONDO:0007228 biolink:NamedThing brachymesomelia-renal syndrome tmpte7i6ely_mondo_relaxed.owl brachymesomelia-renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities|brachymesomelia renal syndrome UMLS:C1862084|OMIM:113470|GARD:0000988|MESH:C537096 owl:Class MONDO:0006821 biolink:NamedThing kidney papillary necrosis A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. tmpte7i6ely_mondo_relaxed.owl renal papillitis necrotizing|necrotizing renal papillitis|papillary necrosis MESH:D007681|DOID:2981|SCTID:90241004|MedDRA:10028865|EFO:1001004|UMLS:C0022667|ICD9:583.7 owl:Class UBERON:0005199 biolink:NamedThing cervical mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036253 biolink:NamedThing orifice of skull tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001030 biolink:NamedThing keratoconus, stable condition tmpte7i6ely_mondo_relaxed.owl stable condition keratoconus DOID:10428|SCTID:193844000|ICD9:371.61|UMLS:C0155131|ICD10:H18.61 owl:Class GO:0030964 biolink:NamedThing NADH dehydrogenase complex An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone. tmpte7i6ely_mondo_relaxed.owl NADH dehydrogenase complex (quinone)|Complex I|NADH:plastoquinone reductase complex|NADH dehydrogenase complex (plastoquinone)|NADH dehydrogenase complex (ubiquinone)|plastid NADH dehydrogenase complex (plastoquinone) owl:Class HGNC:6848 biolink:NamedThing MAP3K1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017282 biolink:NamedThing alveolar echinococcosis Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. tmpte7i6ely_mondo_relaxed.owl Echinococcus multilocularis caused disease or disorder|Echinococcus multilocularis infection|echinococcus multilocularis infection|Echinococcus multilocularis infectious disease|multilocular hydatid|small fox tapeworm|Echinococcus multilocularis disease or disorder|echinococcosis|alveolococcosis ICD10:B67.7|MedDRA:10053042|UMLS:C0152069|UMLS:C0948954|GARD:0000207|ICD9:122.7|MESH:C536591|ICD10:B67.6|SCTID:21009004|DOID:12148|Orphanet:284|ICD10:B67.5 owl:Class MONDO:0000381 biolink:NamedThing infiltrating renal pelvis transitional cell carcinoma A infiltrating urothelial carcinoma that involves the renal pelvis. tmpte7i6ely_mondo_relaxed.owl DOID:0050620 owl:Class NCBITaxon:318478 biolink:NamedThing Dracunculus tmpte7i6ely_mondo_relaxed.owl Dracunculus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100418 biolink:NamedThing acute myeloid leukemia, KIT exon 17 mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.) tmpte7i6ely_mondo_relaxed.owl AML, KIT exon 17 mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation|AML, c-KIT Exon 17 Mutation|AML, CD117 Exon 17 Mutation NCIT:C116396 owl:Class MONDO:0007530 biolink:NamedThing electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon tmpte7i6ely_mondo_relaxed.owl electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon OMIM:130200 owl:Class CHEBI:60643 biolink:NamedThing NMDA receptor antagonist Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs. tmpte7i6ely_mondo_relaxed.owl NMDAR antagonists|N-methyl-D-aspartate receptor antagonists|NMDAR antagonist|N-methyl-D-aspartate receptor antagonist|NMDA receptor antagonists owl:Class CHEBI:60798 biolink:NamedThing excitatory amino acid antagonist Any substance which inhibits the action of receptors for excitatory amino acids. tmpte7i6ely_mondo_relaxed.owl excitatory amino acid receptor antagonists|EAA receptor antagonists|excitatory amino acid antagonists|excitatory amino acid receptor antagonist|EAA receptor antagonist owl:Class UBERON:0018260 biolink:NamedThing layer of muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:35789 biolink:NamedThing Rickettsia helvetica tmpte7i6ely_mondo_relaxed.owl PMID:8102245|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003079 biolink:NamedThing mastocytoma A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung. tmpte7i6ely_mondo_relaxed.owl mastocytoma ICDO:9740/1|ICD9:238.5|SCTID:404171008|UMLS:C0024897|NCIT:C9303 owl:Class MONDO:0100384 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23;p13.1) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(11;19)(q23;p13.1) NCIT:C36371 owl:Class MONDO:0020726 biolink:NamedThing tubulointerstitial kidney disease, autosomal dominant, 2 An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. tmpte7i6ely_mondo_relaxed.owl autosomal dominant medullary cystic kidney disease without hyperuricemia|MUC1-related autosomal dominant tubulointerstitial kidney disease|ADMCKD1|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1|Mckd|MUCI-related ADTKD|MUC1-related autosomal dominant medullary cystic kidney disease|medullary cystic kidney disease, autosomal dominant|medullary cystic kidney disease 1|polycystic kidneys, medullary type|ADTKD-MUC1|MCKD1|medullary cystic kidney disease type 1 UMLS:C1868139|UMLS:CN206321|GARD:0007002|NCIT:C123171|OMIM:174000|Orphanet:34149|ICD10:Q61.5|Orphanet:88949 https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations owl:Class MONDO:0012583 biolink:NamedThing tooth agenesis, selective, 5 tmpte7i6ely_mondo_relaxed.owl hypodontia/oligodontia 5|he-Zhao deficiency|tooth agenesis, selective, 5|STHAG5 OMIM:610926|UMLS:C1858210|MESH:C565757|Orphanet:99798 owl:Class MONDO:0007652 biolink:NamedThing gastric mucosal hypertrophy MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. tmpte7i6ely_mondo_relaxed.owl MENETRIER disease|Menetrier disease|giant hypertrophic gastritis|Gastroenteropathy, protein losing|hypoproteinemic hypertrophic gastropathy|giant rugal hypertrophy of stomach|giant hypertrophic gastropathy|hypertrophic gastritis|gastritis, familial giant hypertrophic|Menetrier's disease|Ménétrier disease|giant hypertrophy of the gastric mucosa|hypertrophic gastropathy|familial giant hypertrophic gastritis OMIM:137280|ICD9:535.20|NCIT:C67277|ICD10:K29.6|ICD9:535.2|SCTID:60002000|MedDRA:10017807|EFO:1000946|GARD:0002436|ICD9:535.21|MedDRA:10017868|Orphanet:2494|MESH:D005758|DOID:8757|UMLS:C0017155 owl:Class MONDO:0100074 biolink:NamedThing norovirus infectious disease Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:5553 biolink:NamedThing Trichosporon beigelii tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5552 biolink:NamedThing Trichosporon tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:107448|NCBITaxon:165811|NCBITaxon:106843|NCBITaxon:599816 ncbi_taxonomy owl:Class MONDO:0011972 biolink:NamedThing ovarian hyperstimulation syndrome A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. tmpte7i6ely_mondo_relaxed.owl ovarian hyperstimulation syndrome, familial gestational spontaneous|OHSS|secondary Meig's syndrome|ovarian hyperstimulation syndrome OMIM:608115|ICD10:N98.1|SCTID:129635004|ICD9:256.1|MESH:D016471|Orphanet:64739|MedDRA:10033266|UMLS:C0085083|DOID:5425 owl:Class MONDO:0018147 biolink:NamedThing idiopathic macular telangiectasia type 3 Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. tmpte7i6ely_mondo_relaxed.owl occlusive idiopathic juxtafoveolar retinal telangiectasis ICD10:H35.5|UMLS:CN204545|Orphanet:353351 owl:Class MONDO:0015036 biolink:NamedThing lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. tmpte7i6ely_mondo_relaxed.owl UMLS:CN228902|Orphanet:100013|SCTID:715820004|ICD10:Q04.3|UMLS:C4274992 owl:Class ENVO:01000752 biolink:NamedThing area of barren land An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010042 biolink:NamedThing spastic diplegia and intellectual disability tmpte7i6ely_mondo_relaxed.owl hereditary spastic diplegia with intellectual disability|hereditary spastic diplegia with mental retardation|spastic diplegia infantile type|spastic diplegia, infantile type|spastic diplegia and mental retardation|spastic diplegia and intellectual disability GARD:0004911|UMLS:C1849139|OMIM:270600|MESH:C537481 owl:Class HP:0100267 biolink:NamedThing Lip pit A depression located on a lip. tmpte7i6ely_mondo_relaxed.owl UMLS:C0341059 doelkens 2010-07-20T04:06:32Z human_phenotype owl:Class MONDO:0005413 biolink:NamedThing cystic fibrosis associated meconium ileus Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis. tmpte7i6ely_mondo_relaxed.owl cystic fibrosis associated meconium ileum EFO:0004608 owl:Class MONDO:0032918 biolink:NamedThing developmental and epileptic encephalopathy, 84 tmpte7i6ely_mondo_relaxed.owl DEE84|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84|epileptic encephalopathy, early infantile, 84|Jamuar Syndrome|EIEE84 OMIM:618792 owl:Class MONDO:0005359 biolink:NamedThing drug-induced liver injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. tmpte7i6ely_mondo_relaxed.owl drug-induced disorder of liver|drug induced hepatotoxicity MESH:D056486|EFO:0004228|SCTID:197352008 owl:Class MONDO:0003558 biolink:NamedThing adenosquamous prostate carcinoma An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. tmpte7i6ely_mondo_relaxed.owl adenosquamous carcinoma of prostate|adenosquamous carcinoma of the prostate|prostate adenosquamous carcinoma|prostate gland adenosquamous carcinoma DOID:5634|NCIT:C5538|UMLS:C1335503 owl:Class MONDO:0030927 biolink:NamedThing myofibrillar myopathy 11 tmpte7i6ely_mondo_relaxed.owl myofibrillar myopathy 11|myopathy, congenital, with eccentric cores|MFM11 OMIM:619178 owl:Class MONDO:0018282 biolink:NamedThing qualitative or quantitative defects of alpha-dystroglycan tmpte7i6ely_mondo_relaxed.owl qualitative or quantitative defects of alpha-dystroglycan|Alpha-dystroglycanopathy|dystroglycanopathy ICD10:G71.2|Orphanet:371024 owl:Class MONDO:0018281 biolink:NamedThing congenital muscular dystrophy with hyperlaxity Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. tmpte7i6ely_mondo_relaxed.owl CMDH Orphanet:371007|ICD10:G71.2|SCTID:763314009 owl:Class MONDO:0009467 biolink:NamedThing natal teeth-intestinal pseudoobstruction-patent ductus syndrome tmpte7i6ely_mondo_relaxed.owl Natal teeth, intestinal pseudoobstruction and patent ductus|intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth ICD10:Q87.8|OMIM:243185|GARD:0003928|UMLS:C1855732|Orphanet:1654|MESH:C538341 owl:Class UPHENO:0001001 biolink:NamedThing phenotype tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007173 biolink:NamedThing lateral border of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044903 biolink:NamedThing myelofibrosis A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 tmpte7i6ely_mondo_relaxed.owl myelofibrosis NCIT:C3248 owl:Class MONDO:0020414 biolink:NamedThing persistent fifth aortic arch tmpte7i6ely_mondo_relaxed.owl ICD10:Q25.4|Orphanet:99076 owl:Class MONDO:0003918 biolink:NamedThing angiomatous meningioma A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells. tmpte7i6ely_mondo_relaxed.owl angiomatous meningioma (morphologic abnormality) EFO:1000086|ICDO:9534/0|NCIT:C4332|MESH:D008579|DOID:6548|UMLS:C0334608 owl:Class UBERON:0001604 biolink:NamedThing levator palpebrae superioris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000840 biolink:NamedThing dysbaric osteonecrosis A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism. tmpte7i6ely_mondo_relaxed.owl DON|caisson disease of bone SCTID:431591000124102|DOID:0080018 owl:Class MONDO:0012822 biolink:NamedThing colorectal cancer, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 8Q23|colorectal cancer, susceptibility to, 6|CRCS6 OMIM:612231 owl:Class MONDO:0017018 biolink:NamedThing isolated pulmonary capillaritis Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative. tmpte7i6ely_mondo_relaxed.owl ICD9:448.9|UMLS:C3873357|Orphanet:264691|SCTID:707436001 owl:Class PATO:0002062 biolink:NamedThing physical quality of a process tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009150 biolink:NamedThing hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia|HEDH syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism|ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|another syndrome|ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia SCTID:239050000|Orphanet:1882|GARD:0002049|MESH:C565604|OMIM:225050|ICD10:Q82.4 https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia owl:Class MONDO:0020765 biolink:NamedThing neuropathy, congenital hypomyelinating, 2 tmpte7i6ely_mondo_relaxed.owl NEUROPATHY, CONGENITAL HYPOMYELINATING, 2|CHN2 OMIM:618184 owl:Class MONDO:0012395 biolink:NamedThing cataract 18 Any cataract in which the cause of the disease is a mutation in the FYCO1 gene. tmpte7i6ely_mondo_relaxed.owl FYCO1 cataract (disease)|CATC2|cataract 18 autosomal recessive|autosomal recessive congenital cataract 2|cataract, autosomal recessive congenital 2|CTRCT18|cataract type 18|cataract 18|cataract (disease) caused by mutation in FYCO1 Orphanet:91492|ICD10:Q12.0|DOID:0110238|GARD:0009892|OMIM:610019|Orphanet:98991|MESH:C535337 owl:Class CL:0002095 biolink:NamedThing hilus cell of ovary A cell in the hilum of the ovary that produces androgens. tmpte7i6ely_mondo_relaxed.owl hilar cell of ovary FMA:18710 tmeehan 2010-08-23T11:18:18Z cell owl:Class MONDO:0004004 biolink:NamedThing motor nerve neuritis Inflammation of the peripheral motor nerves. tmpte7i6ely_mondo_relaxed.owl motor neuritis DOID:683|UMLS:C0235025 owl:Class MONDO:0000973 biolink:NamedThing external ear lipoma A benign adipose tissue neoplasm of the external ear. tmpte7i6ely_mondo_relaxed.owl lipoma of the external auditory meatus|lipoma of external Ear|external ear lipoma|external auditory meatus lipoma|lipoma of external ear|external Ear lipoma|lipoma of external auditory meatus|lipoma of the external ear|lipoma of the external Ear SCTID:188988008|NCIT:C4618|UMLS:C0347423|ICD9:215.0|DOID:10203 owl:Class MONDO:0005432 biolink:NamedThing alcohol and nicotine codependence A drug dependence that is the physiological result of being addicted to alcohol and nicotine. tmpte7i6ely_mondo_relaxed.owl EFO:0004776 owl:Class MONDO:0033375 biolink:NamedThing orofaciodigital syndrome 17 tmpte7i6ely_mondo_relaxed.owl Ofds 17|oral-Facial-digital syndrome, type 17|orofaciodigital syndrome XVII|OFD17 UMLS:CN902091|DOID:0080289|OMIM:617926 owl:Class MONDO:0015629 biolink:NamedThing von Willebrand disease type 2B A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. tmpte7i6ely_mondo_relaxed.owl von Willebrand disease type 2B|von Willebrand disease, type 2B UMLS:C1282971|NCIT:C131687|Orphanet:166087|OMIM:613554|ICD10:D68.0|SCTID:359721009|SCTID:359717002 owl:Class MONDO:0016610 biolink:NamedThing idiopathic eosinophilic myositis tmpte7i6ely_mondo_relaxed.owl idiopathic eosinophilia-associated myopathy Orphanet:247724|ICD10:M60.8 owl:Class MONDO:0030934 biolink:NamedThing intellectual developmental disorder, autosomal dominant 64 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 64|intellectual developmental disorder, autosomal dominant 64|MRD64 OMIM:619188 owl:Class MONDO:0035349 biolink:NamedThing localized dystrophic epidermolysis bullosa A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance. tmpte7i6ely_mondo_relaxed.owl localized DEB Orphanet:595356 owl:Class GO:0032868 biolink:NamedThing response to insulin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. tmpte7i6ely_mondo_relaxed.owl response to insulin stimulus owl:Class MONDO:0032729 biolink:NamedThing intellectual developmental disorder, autosomal recessive 70 tmpte7i6ely_mondo_relaxed.owl MRT70|Mental Retardation, Autosomal Recessive 70|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 OMIM:618402 owl:Class MONDO:0100184 biolink:NamedThing GTP cyclohydrolase I deficiency A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease. tmpte7i6ely_mondo_relaxed.owl GTP cyclohydrolase I deficiency|GTP-cyclohydrolase I deficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001493 biolink:NamedThing chronic pulmonary heart disease Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. tmpte7i6ely_mondo_relaxed.owl Cor pulmonale DOID:12326|ICD9:416.8|ICD9:416.9|SCTID:87837008|NCIT:C34478|UMLS:C0238074 owl:Class GO:0015925 biolink:NamedThing galactosidase activity Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12766 biolink:NamedThing NSD2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:34383 biolink:NamedThing PCARE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006534 biolink:NamedThing cholinergic urticaria A type of physical urticarias (or hives) that appears when a person is sweating. tmpte7i6ely_mondo_relaxed.owl ICD10:L50.5|SCTID:73098005|UMLS:C0152230|Wikipedia:Cholinergic_urticaria|ICD9:708.5|EFO:1000679|DOID:14443 owl:Class MONDO:0013263 biolink:NamedThing retinitis pigmentosa 54 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 54|RP54|PCARE retinitis pigmentosa|retinitis pigmentosa caused by mutation in PCARE|retinitis pigmentosa type 54 ICD10:H35.5|OMIM:613428|DOID:0110364|UMLS:C3150691 owl:Class UBERON:0014541 biolink:NamedThing thoracic division of spinal cord central canal tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032939 biolink:NamedThing intellectual developmental disorder, autosomal dominant 63, with macrocephaly tmpte7i6ely_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 63, With Macrocephaly|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY|MRD63 OMIM:618825 owl:Class MONDO:0016946 biolink:NamedThing partial trisomy of the short arm of chromosome 9 Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. tmpte7i6ely_mondo_relaxed.owl partial duplication of chromosome 9p|chromosome 9p duplication|trisomy 9p|9p duplication|partial trisomy of the short arm of chromosome type 9|partial trisomy 9p|9p trisomy|Duplication 9p|partial duplication of the short arm of chromosome 9|partial trisomy of chromosome 9p 2022-04-01 UMLS:C0265428|GARD:0005364|Orphanet:262767 Reason: duplicate. This will be merged with MONDO:0016526 trisomy 9p owl:Class HGNC:18568 biolink:NamedThing HSFY1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015810 biolink:NamedThing primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl ICD10:C84.4|Orphanet:178522 owl:Class MONDO:0007518 biolink:NamedThing edema, familial idiopathic, prepubertal tmpte7i6ely_mondo_relaxed.owl edema, familial idiopathic, prepubertal UMLS:C1851847|OMIM:129840|MESH:C565063 owl:Class MONDO:0030474 biolink:NamedThing heterotaxy, visceral, 10, autosomal, with male infertility tmpte7i6ely_mondo_relaxed.owl HTX10 OMIM:619607 owl:Class MONDO:0015466 biolink:NamedThing cranio-osteoarthropathy Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. tmpte7i6ely_mondo_relaxed.owl Reginato-Schiapachasse syndrome|cranio osteoarthropathy|Currarino disease|Currarino idiopathic osteoarthropathy OMIM:259100|Orphanet:1525|UMLS:CN199601|ICD10:M89.4|UMLS:C1531773|SCTID:720753002|GARD:0001564 https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy owl:Class HGNC:29316 biolink:NamedThing ZSWIM6 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002663 biolink:NamedThing myocardial endocrine cell of atrium A myocardial endocrine cell that is part of the atrium. tmpte7i6ely_mondo_relaxed.owl FMA:83389 tmeehan 2011-07-11T02:45:39Z cell owl:Class MONDO:0011800 biolink:NamedThing glioma susceptibility 4 tmpte7i6ely_mondo_relaxed.owl glioma susceptibility 4|GLM4 UMLS:C2750944|OMIM:607248|Orphanet:182067 owl:Class NCBITaxon:7898 biolink:NamedThing Actinopterygii tmpte7i6ely_mondo_relaxed.owl fish|fishes|bony fishes|Actinopterygi|Osteichthyes|ray-finned fishes GC_ID:1 ncbi_taxonomy owl:Class CL:1000702 biolink:NamedThing kidney pelvis smooth muscle cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001113 cell owl:Class MONDO:0001637 biolink:NamedThing cicatricial entropion tmpte7i6ely_mondo_relaxed.owl ICD9:374.04|SCTID:67383002|DOID:13113|UMLS:C0155191 owl:Class HGNC:33699 biolink:NamedThing KHDC3L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006658 biolink:NamedThing arteriolosclerosis The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. tmpte7i6ely_mondo_relaxed.owl arteriolosclerosis (morphologic abnormality) EFO:1000819|DOID:5162|MESH:D050379|ICD10:I70|NCIT:C35543|UMLS:C0878486 owl:Class MONDO:0023043 biolink:NamedThing ectodermal dysplasia alopecia preaxial polydactyly tmpte7i6ely_mondo_relaxed.owl absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance UMLS:C2931691|GARD:0002040|MESH:C538016 https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly owl:Class MONDO:0008012 biolink:NamedThing Monophalangy of great toe tmpte7i6ely_mondo_relaxed.owl Monophalangy of great toe UMLS:C1834753|OMIM:158100|MESH:C563570 owl:Class NCBITaxon:123368 biolink:NamedThing Acanthomorphata tmpte7i6ely_mondo_relaxed.owl Acanthomorpha GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10088 biolink:NamedThing Mus tmpte7i6ely_mondo_relaxed.owl mice|mouse|Mus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002486 biolink:NamedThing lobular neoplasia A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma. tmpte7i6ely_mondo_relaxed.owl LN|LIN|lobular neoplasia|lobular intraepithelial neoplasia NCIT:C27939|UMLS:C0861352|DOID:3010 owl:Class NCBITaxon:33265 biolink:NamedThing Dictyocaulinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014811 biolink:NamedThing cerebellar atrophy, visual impairment, and psychomotor retardation; tmpte7i6ely_mondo_relaxed.owl cerebellar atrophy, visual impairment, and psychomotor retardation|CAVIPMR UMLS:C4225172|OMIM:616875 owl:Class MONDO:0019489 biolink:NamedThing diffuse palmoplantar keratoderma - acrocyanosis syndrome Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. tmpte7i6ely_mondo_relaxed.owl diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome UMLS:CN206272|ICD10:Q82.8|Orphanet:86918 owl:Class MONDO:0024340 biolink:NamedThing retinal neuroblastoma A neuroblastoma arising from the retina. tmpte7i6ely_mondo_relaxed.owl neuroblastoma of retina|retinal neuroblastoma|retina neuroblastoma|neuroblastoma of the retina NCIT:C6956 owl:Class NCBITaxon:1173061 biolink:NamedThing Geotrichum candidum tmpte7i6ely_mondo_relaxed.owl Dipodascus geotrichum|Endomyces geotrichum|Galactomyces candidus|Galactomyces geotrichum|Oospora lactis|Galactomyces candidum GC_ID:1 NCBITaxon:27317|NCBITaxon:426521|NCBITaxon:1081645|NCBITaxon:2282360|NCBITaxon:426520 ncbi_taxonomy owl:Class MONDO:0018192 biolink:NamedThing paratesticular adenocarcinoma tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of paratestis|adenocarcinoma of the paratestis ICD10:C63.7|ICD10:C63.2|ICD10:C63.0|Orphanet:363478|ICD10:C63.1|ICD10:C63.8 owl:Class MONDO:0018191 biolink:NamedThing tumor of testis and paratestis tmpte7i6ely_mondo_relaxed.owl testicular and paratesticular tumor Orphanet:363472|UMLS:CN204698 owl:Class HGNC:7329 biolink:NamedThing MSH6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005873 biolink:NamedThing neuroaspergillosis Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) tmpte7i6ely_mondo_relaxed.owl DOID:13565|EFO:0007393|UMLS:C0752342|MESH:D020953 owl:Class MONDO:0060583 biolink:NamedThing platelet abnormalities with eosinophilia and immune-mediated inflammatory disease tmpte7i6ely_mondo_relaxed.owl PLTEID|platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM:617718|UMLS:C4540232 owl:Class MONDO:0010381 biolink:NamedThing Tn polyagglutination syndrome tmpte7i6ely_mondo_relaxed.owl galactosyltransferase deficiency|TNPS|Tn polyagglutination syndrome UMLS:C0272137|OMIM:300622|DOID:0080520|MESH:C562719 owl:Class MONDO:0008912 biolink:NamedThing cardiac septal defects with coarctation of the aorta tmpte7i6ely_mondo_relaxed.owl cardiac septal defects with coarctation of the aorta OMIM:212090|MESH:C565883|UMLS:C1859331 owl:Class NCBITaxon:6247 biolink:NamedThing Strongyloides tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0018904 biolink:NamedThing ether metabolic process The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds. tmpte7i6ely_mondo_relaxed.owl organic ether metabolism|ether metabolism|organic ether metabolic process owl:Class MONDO:0005892 biolink:NamedThing otitis media with effusion Otitis media associated with accumulation of fluid in the middle ear. tmpte7i6ely_mondo_relaxed.owl serous otitis Media|secretory otitis Media|OME MESH:D010034|ICD9:381.29|ICD9:381.20|NCIT:C34886|EFO:0007415|SCTID:78868004 owl:Class MONDO:0007434 biolink:NamedThing primary failure of tooth eruption tmpte7i6ely_mondo_relaxed.owl primary retention of teeth|failure of tooth eruption, primary|primary failure of eruption, nonsyndromic|PFE|unerupted second primary molar|posterior Openbite malocclusion, familial|dental noneruption MESH:C565114|DOID:0111341|UMLS:C1852222|Orphanet:412206|OMIM:125350|ICD10:K00.8 owl:Class MONDO:0018256 biolink:NamedThing acute myeloid leukemia with t(8;16)(p11;p13) translocation A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. tmpte7i6ely_mondo_relaxed.owl AML with t(8;16)(p11;p13) translocation UMLS:CN204831|UMLS:C4511003|Orphanet:370026|ICD10:C92.0|SCTID:725390002 owl:Class UBERON:0011189 biolink:NamedThing lamina propria of large intestine tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018242 biolink:NamedThing autoimmune hypoparathyroidism An autoimmune form of hypoparathyroidism. tmpte7i6ely_mondo_relaxed.owl autoimmune hypoparathyroidism|autoimmune hypoparathyroidism (disease) autoimmune hypoparathyroidism (disease) SCTID:75316000|Orphanet:36913|UMLS:C0271865|HP:0011771|ICD10:E20.8 owl:Class MONDO:0008264 biolink:NamedThing autosomal dominant medullary cystic kidney disease with or without hyperuricemia A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). tmpte7i6ely_mondo_relaxed.owl ADTKD|MCKD|autosomal dominant medullary cystic kidney disease|medullary cystic disease|autosomal dominant interstitial kidney disease|medullary cystic kidney disease|polycystic kidneys, medullary type|autosomal dominant tubulointerstitial kidney disease|autosomal dominant medullary cystic kidney disease with or without hyperuricemia ICD10:Q61.5|UMLS:C4511620|EFO:0008617|MEDGEN:881357|MEDGEN:358137|UMLS:CN536252|GARD:0010801|OMIM:609886|UMLS:C4054549|UMLS:CN204412|MESH:C536137|SCTID:444699000|Orphanet:34149|OMIM:603860|OMIM:174000 https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease owl:Class GO:0032468 biolink:NamedThing Golgi calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings. tmpte7i6ely_mondo_relaxed.owl calcium ion homeostasis in Golgi|regulation of Golgi calcium ion concentration|regulation of calcium ion concentration in Golgi|Golgi calcium ion concentration regulation owl:Class CL:0002327 biolink:NamedThing mammary gland epithelial cell An epithelial cell of the mammary gland. tmpte7i6ely_mondo_relaxed.owl mammary epithelial cell|breast epithelial cell BTO:0004300 tmeehan 2010-09-20T01:49:37Z cell owl:Class MONDO:0014244 biolink:NamedThing hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.' tmpte7i6ely_mondo_relaxed.owl CIP with hyperhidrosis and gastrointestinal dysfunction|hereditary sensory and autonomic neuropathy type VII|insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|HSAN7|SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN 7|HSAN with hyperhidrosis and gastrointestinal dysfunction|neuropathy, hereditary sensory and autonomic, type 7|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|HSAN VII|neuropathy, hereditary sensory and autonomic, type VII DOID:0070149|Orphanet:391397|OMIM:615548|NCIT:C125388|GARD:0012732|UMLS:C3809882|GARD:12723|ICD10:G60.8 https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7 owl:Class MONDO:0020334 biolink:NamedThing mast cell leukemia Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells. tmpte7i6ely_mondo_relaxed.owl aleukemic mast cell leukemia|Mast cell leukemia|mast-cell leukemia|SMMCL ICD10:C94.30|NCIT:C3169|MedDRA:10056450|UMLS:C0023461|Orphanet:158799|MESH:D007946|Orphanet:98851|ICDO:9742/3|EFO:0007359|DOID:9254|ICD10:C94.3|ONCOTREE:SMMCL|SCTID:110002002 owl:Class UBERON:0022248 biolink:NamedThing cerebral nerve fasciculus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020866 biolink:NamedThing nasopharyngeal diphtheria Infection of the nasopharynx by Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl nasopharyngeal diphtheria|Nasopharyngeal diphtheria|Nasopharyngeal Diphtheria NCIT:C34547|SCTID:75589004|UMLS:C0012558|ICD9:032.1 owl:Class MONDO:0017053 biolink:NamedThing intermittent maple syrup urine disease Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. tmpte7i6ely_mondo_relaxed.owl intermittent branched-chain alpha-ketoacid dehydrogenase deficiency|intermittent maple syrup urine disease|intermittent BCKD deficiency|intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent MSUD Orphanet:268173|OMIM:248600|ICD10:E71.0|SCTID:405288003 owl:Class MONDO:0018486 biolink:NamedThing visual snow syndrome Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow. tmpte7i6ely_mondo_relaxed.owl visual snow ICD10:H53.8|UMLS:CN237477|GARD:0012062|Orphanet:420556 https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome owl:Class CHEBI:22315 biolink:NamedThing alkaloid Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids. tmpte7i6ely_mondo_relaxed.owl alcaloides|Alkaloide|alkaloids|Alkaloid|alcaloide owl:Class MONDO:0007083 biolink:NamedThing autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma and congenital alopecia, Stevanovic type|alopecia congenita with hyperkeratosis of the palms and soles|PPKCA1|palmoplantar keratoderma and congenital alopecia 1|Ppkca, Stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|PPK-CA, Stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia type 1 SCTID:719518004|Orphanet:1010|ICD10:Q82.8|GARD:0000604|OMIM:104100 https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia owl:Class MONDO:0008081 biolink:NamedThing neurofibromatosis, type IV, of Riccardi tmpte7i6ely_mondo_relaxed.owl neurofibromatosis, type IV, of Riccardi|neurofibromatosis, type IV, of RICCARDI|Nf 4|neurofibromatosis type 4|neurofibromatosis, variant form(S) of|NF4|neurofibromatosis type IV|neurofibromatosis, atypical|type IV neurofibromatosis of Riccardi OMIM:162270|MESH:C537392 owl:Class MONDO:0100433 biolink:NamedThing ACTB-associated syndromic thrombocytopenia A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets. tmpte7i6ely_mondo_relaxed.owl ACTB-AST owl:Class HP:0001331 biolink:NamedThing Absent septum pellucidum Absence of the septum pellucidum. tmpte7i6ely_mondo_relaxed.owl Missing septum pellucidum|Agenesis of the septum pellucidum|Absence of the septum pellucidum|Absence of septum pellucidum UMLS:C0431371|MSH:C535562|SNOMEDCT_US:253143001 TODO: Bundled term. Revise annotations and split this term. HP:0006969 human_phenotype owl:Class HP:0007375 biolink:NamedThing Abnormality of the septum pellucidum An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. tmpte7i6ely_mondo_relaxed.owl UMLS:C4024894 peter 2008-04-01T10:48:00Z human_phenotype owl:Class MONDO:0030028 biolink:NamedThing neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline tmpte7i6ely_mondo_relaxed.owl NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE|CONATOC|neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM:618868 owl:Class MONDO:0024414 biolink:NamedThing anaerobic cellulitis tmpte7i6ely_mondo_relaxed.owl anaerobic cellulitis SCTID:238401006|ICD9:682.9|UMLS:C0241828|ICD9:041.84 owl:Class MONDO:0044303 biolink:NamedThing congenital heart defects and ectodermal dysplasia tmpte7i6ely_mondo_relaxed.owl congenital heart defects and ectodermal dysplasia|CHDED OMIM:617364|UMLS:C4479250 owl:Class MONDO:0008497 biolink:NamedThing Stormorken syndrome Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl york Platelet syndrome|Stormorken-Sjaastad-Langslet syndrome|Thrombocytopathy asplenia miosis|Thrombocytopathy, asplenia, and miosis|STRMK|Stormorken syndrome|Thrombocytopathy-asplenia-miosis syndrome|thrombocytopathy, asplenia and miosis MESH:C566108|ICD10:D69.8|Orphanet:3204|GARD:0005188|DOID:0060354|ICD9:759.89|UMLS:C1861451|OMIM:185070|SCTID:711407000 owl:Class HGNC:12009 biolink:NamedThing TPI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013594 biolink:NamedThing spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 36|Asidan|SCA36|spinocerebellar ataxia 36 OMIM:614153|UMLS:C3472711|NCIT:C148316|ICD10:G11.8|DOID:0050983|SCTID:711158005|Orphanet:276198|GARD:0012367 owl:Class MONDO:0010902 biolink:NamedThing spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia with atlantoaxial instability Orphanet:163662|SCTID:718764004|MESH:C563472|UMLS:C1833603|OMIM:600561|ICD10:Q77.7 owl:Class MONDO:0020353 biolink:NamedThing von Hippel anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98941|ICD10:Q13.4 owl:Class MONDO:0011414 biolink:NamedThing Peters anomaly Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. tmpte7i6ely_mondo_relaxed.owl anterior segment dysgenesis 5|ASGD5|Peters anomaly|Peters anomaly (disease)|Peters congenital glaucoma Peters anomaly (disease) OMIM:612968|ICD10:Q13.4|HP:0000659|OMIM:604229|SCTID:204153003|Orphanet:708|MedDRA:10059202|DOID:0060673|ICD9:743.44|GARD:0007377|MESH:C537884 owl:Class MONDO:0007712 biolink:NamedThing oculoauriculovertebral spectrum with radial defects Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. tmpte7i6ely_mondo_relaxed.owl Goldenhar syndrome with ipsilateral radial defect|hemifacial microsomia with radial defects|microsomia hemifacial radial defects|Moeschler Clarren syndrome|hemifacial microsomia-radial defects syndrome|Oavs with radial defect|oculoauriculovertebral spectrum with radial defect|Moeschler-Clarren syndrome Orphanet:2549|SCTID:726722009|GARD:0003653|OMIM:141400|ICD10:Q75.8|UMLS:C0265240 owl:Class MONDO:0008670 biolink:NamedThing Waardenburg syndrome type 1 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome type 1|Waardenburg's syndrome type 1|Waardenburg syndrome, type 1|Waardenburg syndrome with dystopia canthorum|Waardenburg syndrome type I|WS1 ICD10:E70.3|DOID:0110948|Orphanet:894|NCIT:C75008|UMLS:C1847800|GARD:0005519|OMIM:193500|Orphanet:3440 https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 owl:Class MONDO:0008273 biolink:NamedThing actinic prurigo tmpte7i6ely_mondo_relaxed.owl familial polymorphous light eruption of American Indians|actinic prurigo|polymorphic Light eruption, hereditary|hydroa aestivale|juvenile Spring eruption of ears|Hutchinson summer prurigo|hereditary polymorphous light eruption of American Indians OMIM:174770|UMLS:C0406217|ICD10:L56.4|SCTID:201015007|Orphanet:330061 owl:Class UBERON:0003406 biolink:NamedThing cartilage of respiratory system tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0036266 biolink:NamedThing pars interarticularis of vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009522 biolink:NamedThing Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. tmpte7i6ely_mondo_relaxed.owl Berlin syndrome|LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis|LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis|ectodermal dysplasia, Berlin type SCTID:239032007|ICD10:Q82.4|MESH:C565440|UMLS:C0406729|Orphanet:1816|UMLS:C1855504|OMIM:246500 owl:Class MONDO:0019626 biolink:NamedThing isolated ankyloblepharon filiforme adnatum Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors. tmpte7i6ely_mondo_relaxed.owl ICD10:Q10.3|Orphanet:91397 owl:Class MONDO:0002846 biolink:NamedThing granulomatous gastritis Gastritis that is associated with the presence of granulomas. tmpte7i6ely_mondo_relaxed.owl granulomatous gastritis DOID:4038|UMLS:C1112577|ICD10:K29.6|NCIT:C27348 owl:Class MONDO:0011180 biolink:NamedThing broad terminal phalanges, familial tmpte7i6ely_mondo_relaxed.owl broad terminal phalanges, familial OMIM:602071|UMLS:C1865923|MESH:C566588 owl:Class HGNC:13273 biolink:NamedThing DUOX2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2732406 biolink:NamedThing Kitrinoviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010983 biolink:NamedThing dystonia 9 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. tmpte7i6ely_mondo_relaxed.owl episodic choreoathetosis/spasticity|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|DYT9|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|dystonia type 9|choreoathetosis/spasticity, episodic|dystonia 9|Cse choreoathetosis, paroxysmal, with episodic ataxia OMIM:601042|ICD10:G24.8|Orphanet:53583|DOID:0090044|MESH:C563401|UMLS:C1832855|SCTID:715564000 owl:Class MONDO:0014235 biolink:NamedThing chromosome 22q13 duplication syndrome tmpte7i6ely_mondo_relaxed.owl chromosome 22q13 duplication syndrome OMIM:615538|DOID:0060437|UMLS:C3809844 owl:Class MONDO:0011618 biolink:NamedThing liver fibrocystic disease and polydactyly tmpte7i6ely_mondo_relaxed.owl liver fibrocystic disease and polydactyly OMIM:605944|MESH:C565272|UMLS:C1853827 owl:Class MONDO:0007153 biolink:NamedThing arteries, anomalies of tmpte7i6ely_mondo_relaxed.owl arteries, anomalies of OMIM:108000 owl:Class MONDO:0002064 biolink:NamedThing breast angiomatosis A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces. tmpte7i6ely_mondo_relaxed.owl UMLS:C1511284|NCIT:C40381|DOID:1637 owl:Class NCBITaxon:426442 biolink:NamedThing Ixodinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000316 biolink:NamedThing opportunistic bacterial infectious disease tmpte7i6ely_mondo_relaxed.owl DOID:0050340 owl:Class ENVO:01001147 biolink:NamedThing helium planet A gas planet which has an atmosphere composed primarily of helium. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:204429 biolink:NamedThing Chlamydiia tmpte7i6ely_mondo_relaxed.owl Chlamydiae PMID:26179278|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:204428 biolink:NamedThing Chlamydiae tmpte7i6ely_mondo_relaxed.owl Chlamydaeota|Chlamydiota GC_ID:11|PMID:29458499|PMID:24185849|PMID:26654112 ncbi_taxonomy owl:Class NCBITaxon:1649845 biolink:NamedThing Yersinia pseudotuberculosis complex tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001139 biolink:NamedThing sexual masochism disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer. tmpte7i6ely_mondo_relaxed.owl sexual masochism MESH:D008398|DOID:10849|NCIT:C94356|SCTID:51239001|ICD10:F65.51|ICD9:302.83 owl:Class MONDO:0018298 biolink:NamedThing multicentric osteolysis-nodulosis-arthropathy spectrum A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. tmpte7i6ely_mondo_relaxed.owl mona spectrum OMIM:259600|Orphanet:371428|SCTID:716868003|OMIM:277950|ICD10:Q85.9|UMLS:CN227313 owl:Class MONDO:0011245 biolink:NamedThing ichthyosis, hystrix-like, with hearing loss tmpte7i6ely_mondo_relaxed.owl HID syndrome|ichthyosis, hystrix-like, with deafness Orphanet:477|UMLS:C1865234|MESH:C566528|OMIM:602540 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0014501 biolink:NamedThing macular degeneration, early-onset tmpte7i6ely_mondo_relaxed.owl macular degeneration, early-onset|EOMD UMLS:C4015286|OMIM:616118 owl:Class MONDO:0002075 biolink:NamedThing spontaneous tension pneumothorax tmpte7i6ely_mondo_relaxed.owl ICD9:512.0|UMLS:C0155907|ICD10:J93.0|DOID:1672|SCTID:196102003 owl:Class MONDO:0003595 biolink:NamedThing sclerosing liposarcoma A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. tmpte7i6ely_mondo_relaxed.owl SCTID:404068003|NCIT:C6507|ICD9:171.9|DOID:5704|UMLS:C0334469 owl:Class MONDO:0017224 biolink:NamedThing Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). tmpte7i6ely_mondo_relaxed.owl UMLS:CN202706|Orphanet:280229|ICD10:E75.2 owl:Class PCO:0000031 biolink:NamedThing organismal entity A material entity that is one or more organisms, viruses or viroids. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:8410036 biolink:NamedThing medullary venule of lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005658 biolink:NamedThing secondary palatal shelf epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11067 biolink:NamedThing SLC7A9 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3373 biolink:NamedThing EP300 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042362 biolink:NamedThing fat-soluble vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpte7i6ely_mondo_relaxed.owl fat-soluble vitamin synthesis|fat-soluble vitamin formation|fat-soluble vitamin biosynthesis|fat-soluble vitamin anabolism owl:Class HGNC:10721 biolink:NamedThing SELP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8646 biolink:NamedThing PCBD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016491 biolink:NamedThing hemoglobin E-beta-thalassemia syndrome Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. tmpte7i6ely_mondo_relaxed.owl E-beta-thalassemia|HbE-beta-thalassemia syndrome ICD10:D58.2|UMLS:C0472777|Orphanet:231249 owl:Class HGNC:1673 biolink:NamedThing CD3D tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11354 biolink:NamedThing STAG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015612 biolink:NamedThing Dent disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. tmpte7i6ely_mondo_relaxed.owl low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|Dent disease 2|Dents disease|Dent disease 1|renal Fanconi syndrome with nephrocalcinosis and renal stones|Dent's disease|X-linked recessive nephrolithiasis|X-linked recessive hypercalciuric hypophosphatemic rickets|X-linked recessive hypophosphatemic rickets|Dent syndrome Orphanet:1652|GARD:0013105|OMIM:300554|MedDRA:10069199|UMLS:C1845167|SCTID:444645005|DOID:0050699|NCIT:C123260|OMIMPS:300009|OMIM:308990|OMIM:300009|ICD10:N25.8|OMIM:300555|MESH:D057973|UMLS:CN239269|OMIM:310468|UMLS:C0878681 owl:Class MONDO:0024620 biolink:NamedThing meningitis caused by poliovirus tmpte7i6ely_mondo_relaxed.owl polio virus meningitis|meningitis caused by human poliovirus SCTID:721765009|UMLS:C4303134 owl:Class MONDO:0015638 biolink:NamedThing benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. tmpte7i6ely_mondo_relaxed.owl ICD10:G40.2|Orphanet:166299|UMLS:CN226717 owl:Class MONDO:0015637 biolink:NamedThing benign non-familial infantile seizures tmpte7i6ely_mondo_relaxed.owl Orphanet:166295|ICD10:G40.4|UMLS:CN226716 owl:Class CL:0008035 biolink:NamedThing microcirculation associated smooth muscle cell tmpte7i6ely_mondo_relaxed.owl dos 2020-02-29 17:37:00+00:00 owl:Class HP:0002244 biolink:NamedThing Abnormality of the small intestine An abnormality of the small intestine. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025717 human_phenotype owl:Class GO:0050309 biolink:NamedThing sugar-terminal-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. tmpte7i6ely_mondo_relaxed.owl sugar-omega-phosphate phosphohydrolase activity|xylitol-5-phosphatase activity owl:Class MONDO:0001560 biolink:NamedThing hypertrophic pyloric stenosis An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. tmpte7i6ely_mondo_relaxed.owl congenital constriction of the pylorus|infantile constriction of the pylorus|congenital Hypertrophy of the pylorus|IHPS|pyloric stenosis, infantile|infantile stricture of the pylorus|infantile pyloric stenosis|infantile Hypertrophy of the pylorus|congenital pyloric stenosis|congenital stricture of the pylorus|congenital or infantile stricture of pylorus|infantile hypertrophic pyloric stenosis|congenital hypertrophic pyloric stenosis NCIT:C98952|ICD10:Q40.0|SCTID:48644003|MESH:D046248|EFO:0004707|ICD9:750.5|DOID:12638 owl:Class MONDO:0040923 biolink:NamedThing late latent syphilis Latent syphilis when infection was acquired more than twelve months previously. tmpte7i6ely_mondo_relaxed.owl late latent syphilis SCTID:186903006|NCIT:C128371|UMLS:C1260915 owl:Class MONDO:0005511 biolink:NamedThing janus kinase-3 deficiency Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency. tmpte7i6ely_mondo_relaxed.owl EFO:0005565|Wikipedia:Janus_kinase_3_deficiency|DOID:0060008 owl:Class CL:1001318 biolink:NamedThing renal interstitial pericyte tmpte7i6ely_mondo_relaxed.owl KUPO:0001104 cell owl:Class MONDO:0100087 biolink:NamedThing familial Alzheimer disease A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. tmpte7i6ely_mondo_relaxed.owl Alzheimer disease, familial|FAD|GARD:0000632 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:2482 biolink:NamedThing CSTB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009059 biolink:NamedThing cysteine Peptiduria tmpte7i6ely_mondo_relaxed.owl cysteine Peptiduria UMLS:C1857438|OMIM:219550|MESH:C565659 owl:Class MONDO:0019559 biolink:NamedThing hypertrophic or verrucous lupus erythematosus tmpte7i6ely_mondo_relaxed.owl ICD10:L93.2|Orphanet:90282|UMLS:CN227653 owl:Class MONDO:0009512 biolink:NamedThing lethal Larsen-like syndrome Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out. tmpte7i6ely_mondo_relaxed.owl Larsen-like syndrome, lethal type|Larsen-like multiple joint dislocation syndrome MESH:C537872|Orphanet:2371|UMLS:C1855535|SCTID:719409004|GARD:0003181|ICD10:Q74.8|OMIM:245650|UMLS:C4304741 owl:Class HGNC:3974 biolink:NamedThing FTCD tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0030312 biolink:NamedThing external encapsulating structure A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013364 biolink:NamedThing Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. tmpte7i6ely_mondo_relaxed.owl RSTS2|Rubinstein-Taybi syndrome caused by mutation in EP300|Rubinstein-Taybi syndrome 2|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Rubinstein-Taybi syndrome type 2|EP300 Rubinstein-Taybi syndrome Orphanet:783|Orphanet:353284|UMLS:C3150941|NCIT:C153291|OMIM:613684|ICD10:Q87.2 owl:Class HGNC:7961 biolink:NamedThing NR0B2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002399 biolink:NamedThing tenosynovial giant cell tumor, localized type A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. tmpte7i6ely_mondo_relaxed.owl benign synovioma|localized giant cell tumor of Tenosynovium|nodular tenosynovitis|synovioma, benign (morphologic abnormality)|localized giant cell tumor of the Tenosynovium|localized tenosynovial giant cell tumor|tenosynovial giant cell tumor, localized type|localized giant cell neoplasm of tendon sheath|benign tumor of synovium|localized giant cell neoplasm of the Tenosynovium|localized giant cell neoplasm of Tenosynovium|localized tenosynovial giant cell neoplasm|localized giant cell tumor of tendon sheath UMLS:C0221289|NCIT:C6532|ICD9:727.02|NCIT:C3829|SCTID:95413004|DOID:2701|UMLS:C0588125 owl:Class MONDO:0002103 biolink:NamedThing factitious disorder A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors. tmpte7i6ely_mondo_relaxed.owl Munchausen syndrome SCTID:50705009|MESH:D009110|ICD9:300.16|DOID:1766|NCIT:C92198|ICD10:F68.11|ICD9:300.19 owl:Class MONDO:0003845 biolink:NamedThing corpus callosum lipoma A rare benign adipose tissue neoplasm of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl lipoma of the corpus callosum|lipoma of corpus callosum|corpus callosum lipoma NCIT:C5438|UMLS:C1333160|DOID:6294 owl:Class MONDO:0043994 biolink:NamedThing acute cholecystitis Acute inflammation of the gallbladder. tmpte7i6ely_mondo_relaxed.owl acute cholecystitis MESH:D041881|NCIT:C35152|SCTID:65275009 owl:Class NCBITaxon:118882 biolink:NamedThing Brucellaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003025 biolink:NamedThing conventional angiosarcoma An angiosarcoma characterized by the presence of malignant spindle endothelial cells. tmpte7i6ely_mondo_relaxed.owl conventional angiosarcoma NCIT:C9426|UMLS:C1333155|DOID:4512 owl:Class HGNC:25567 biolink:NamedThing ATAD3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011089 biolink:NamedThing patent ductus venosus tmpte7i6ely_mondo_relaxed.owl portosystemic Venous shunt, congenital|PDV|patent ductus venosus|PSVS GARD:0010483|OMIM:601466|MESH:C562830|SCTID:253330006|ICD9:747.49 https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus owl:Class MONDO:0023538 biolink:NamedThing Kaplowitz-Bodurtha syndrome tmpte7i6ely_mondo_relaxed.owl hypopituitarism microphthalmia|congenital hypopituitarism and microphthalmia MESH:C536893|UMLS:C2931361 owl:Class MONDO:0021851 biolink:NamedThing alopecia universalis onychodystrophy vitiligo A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun. tmpte7i6ely_mondo_relaxed.owl alopecia universalis, onychodystrophy, and total vitiligo GARD:0000615|UMLS:C2931408|MESH:C537056 https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo owl:Class HGNC:15977 biolink:NamedThing HES7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008688 biolink:NamedThing WT limb-blood syndrome WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl WT limb blood syndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WT limb-blood syndrome|WTsyndrome UMLS:C1327917|OMIM:194350|SCTID:719019000|ICD10:D61.0|Orphanet:3466|GARD:0000039|MESH:C536751 https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome owl:Class GO:0051960 biolink:NamedThing regulation of nervous system development Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012007 biolink:NamedThing scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities tmpte7i6ely_mondo_relaxed.owl scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities|anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities UMLS:C1842315|MESH:C564262|OMIM:608281 owl:Class ENVO:01000044 biolink:NamedThing marine pelagic feature A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024245 biolink:NamedThing ductal eccrine adenocarcinoma tmpte7i6ely_mondo_relaxed.owl malignant hidradenoma|hidradenocarcinoma|sweat gland carcinoma of the hand|ductal eccrine adenocarcinoma|anaplastic syringoma|eccrine ductal carcinoma|eccrine ductal carcinoma (morphologic abnormality)|malignant acrospiroma|primary mucoepidermoid cutaneous carcinoma|eccrine ductal carcinoma of skin|ductal eccrine carcinoma DOID:5570|NCIT:C43345|SCTID:403939009 owl:Class CHEBI:60832 biolink:NamedThing tubulin modulator Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules. tmpte7i6ely_mondo_relaxed.owl tubulin modulators owl:Class FOODON:03412611 biolink:NamedThing doe (goat) A female goat tmpte7i6ely_mondo_relaxed.owl nanny goat owl:Class GO:0045738 biolink:NamedThing negative regulation of DNA repair Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair. tmpte7i6ely_mondo_relaxed.owl down regulation of DNA repair|inhibition of DNA repair|down-regulation of DNA repair|downregulation of DNA repair owl:Class HP:0012614 biolink:NamedThing Abnormal urine cytology An anomalous finding in the examination of the urine for cells. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:310439007|UMLS:C0587955 peter 2014-01-17T12:01:16Z human_phenotype owl:Class ECTO:7000020 biolink:NamedThing exposure to sand A exposure event involving the interaction of an exposure receptor to sand. tmpte7i6ely_mondo_relaxed.owl sand exposure owl:Class MONDO:0001986 biolink:NamedThing Argyll Robertson pupil tmpte7i6ely_mondo_relaxed.owl Argyll Robertson phenomenon or pupil, nonsyphilitic|Argyll Robertson pupil, atypical|atypical Argyll-Robertson pupil DOID:14523|UMLS:C0155375|ICD10:H57.01|SCTID:21011008|ICD9:379.45 owl:Class MONDO:0001303 biolink:NamedThing abnormal pupillary function tmpte7i6ely_mondo_relaxed.owl abnormal pupillary function (disease)|abnormal pupillary function abnormal pupillary function (disease) HP:0007686|ICD9:379.49|ICD9:379.40|SCTID:72124005|DOID:11518|ICD10:H57.09 owl:Class MONDO:0012750 biolink:NamedThing lethal arthrogryposis-anterior horn cell disease syndrome tmpte7i6ely_mondo_relaxed.owl Vuopala disease|lethal arthrogryposis with anterior horn cell disease|LAAHD MESH:C567502|OMIM:611890|SCTID:715565004|Orphanet:53696|UMLS:C2678471 owl:Class MONDO:0013650 biolink:NamedThing hypotrichosis 10 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3. tmpte7i6ely_mondo_relaxed.owl hypotrichosis type 10|hypotrichosis 10|HYPT10|hypt10 DOID:0110707|UMLS:C3280253|OMIM:614238|Orphanet:55654 owl:Class MONDO:0019732 biolink:NamedThing ALys amyloidosis tmpte7i6ely_mondo_relaxed.owl familial renal amyloidosis due to lysozyme variant|lysozyme amyloidosis|hereditary amyloid nephropathy due to lysozyme variant|familial amyloid nephropathy due to lysozyme variant|hereditary renal amyloidosis due to lysozyme variant Orphanet:93561|ICD10:E85.0|UMLS:CN206639 owl:Class NBO:0000181 biolink:NamedThing long-term memory "This type of memory, lasting hours to months, critically depends on a transfer of the information from short term memory using repeated rehearsal." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000306 biolink:NamedThing memory storage behavior "Behavior related with the ability of an organism's ability to store information and experiences." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl memory storage behaviour owl:Class MONDO:0009125 biolink:NamedThing dopamine beta-hydroxylase, plasma, thermolability of tmpte7i6ely_mondo_relaxed.owl dopamine beta-hydroxylase, plasma, thermolability of 2022-04-01 OMIM:223380 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0022598 biolink:NamedThing brachydactyly absence of distal phalanges tmpte7i6ely_mondo_relaxed.owl GARD:0000961 https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges owl:Class MONDO:0010055 biolink:NamedThing spinal muscular atrophy with microcephaly and mental subnormality tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy with microcephaly and mental subnormality OMIM:271110|MESH:C564806|UMLS:C1849108 owl:Class MONDO:0014994 biolink:NamedThing global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF|GDACCF|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies UMLS:C4310644|OMIM:617260 owl:Class UBERON:0008433 biolink:NamedThing lumbar vertebral arch tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12816 biolink:NamedThing XPC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044208 biolink:NamedThing specific granule deficiency 2 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480). tmpte7i6ely_mondo_relaxed.owl specific granule deficiency 2|SGD2 Orphanet:169142|OMIM:617475|UMLS:C4479548 owl:Class CHEBI:24471 biolink:NamedThing halogen molecular entity tmpte7i6ely_mondo_relaxed.owl halogen molecular entities|halogen molecular entity|halogen compounds owl:Class MONDO:0016099 biolink:NamedThing overlap myositis Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature. tmpte7i6ely_mondo_relaxed.owl non-specific myositis|adult-onset overlap myositis Orphanet:206572 owl:Class HGNC:2938 biolink:NamedThing DMXL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015342 biolink:NamedThing acute transverse myelitis Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). tmpte7i6ely_mondo_relaxed.owl SCTID:47000000|Orphanet:139417|MESH:D009188|NCIT:C128378|ICD9:323.9|ICD10:G37.3|ICD9:341.20|UMLS:C0270627 owl:Class MONDO:0018423 biolink:NamedThing autosomal recessive spastic paraplegia type 71 tmpte7i6ely_mondo_relaxed.owl SPG71 ICD10:G11.4|UMLS:CN226130|Orphanet:401840 owl:Class MONDO:0011419 biolink:NamedThing camera-Marugo-Cohen syndrome tmpte7i6ely_mondo_relaxed.owl obesity, mental retardation, body asymmetry, and muscle weakness|camera Marugo Cohen syndrome|camera-Marugo-Cohen syndrome|obesity, intellectual disability, body asymmetry, and muscle weakness MESH:C537964|UMLS:C1858661|OMIM:604257|GARD:0008413 https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome owl:Class MONDO:0043775 biolink:NamedThing respiratory paralysis Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders. tmpte7i6ely_mondo_relaxed.owl paralysis, respiratory muscle|muscle paralyses, respiratory|paralysis of diaphragm|diaphragmatic paralysis|paralysis, respiratory|muscle paralysis, respiratory|respiratory muscle paralysis|paralysis, diaphragmatic SCTID:64228003|MESH:D012133 owl:Class UBERON:0012251 biolink:NamedThing ectocervical epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017296 biolink:NamedThing glycerol kinase deficiency, adult form Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults. tmpte7i6ely_mondo_relaxed.owl OMIM:307030|Orphanet:284414|ICD10:E74.8 owl:Class HP:0010522 biolink:NamedThing Dyslexia A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). tmpte7i6ely_mondo_relaxed.owl Reading disability UMLS:C0476254|MSH:D004410|SNOMEDCT_US:9236007|SNOMEDCT_US:59770006|SNOMEDCT_US:52824009 peter 2009-09-20T11:19:24Z HP:0006871 human_phenotype owl:Class HP:0001328 biolink:NamedThing Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025790 The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. HP:0007234 human_phenotype owl:Class MONDO:0040502 biolink:NamedThing glucocorticoid deficiency 5 tmpte7i6ely_mondo_relaxed.owl GCCD5|glucocorticoid deficiency 5 OMIM:617825 owl:Class GO:0071103 biolink:NamedThing DNA conformation change A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. tmpte7i6ely_mondo_relaxed.owl DNA conformation modification owl:Class MONDO:0024545 biolink:NamedThing Miyoshi muscular dystrophy 1 Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene. tmpte7i6ely_mondo_relaxed.owl Miyoshi myopathy caused by mutation in DYSF|muscular dystrophy, distal, late-onset, autosomal recessive|MIYOSHI muscular dystrophy 1|Miyoshi myopathy|MMD1|DYSF Miyoshi myopathy UMLS:C1850808|Orphanet:45448|OMIM:254130|DOID:0070199|GARD:0009676 https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy owl:Class HGNC:11556 biolink:NamedThing TAL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006835 biolink:NamedThing lipoid nephrosis A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. tmpte7i6ely_mondo_relaxed.owl lipoid nephrosis|nephrotic syndrome with lesion of minimal change glomerulonephritis|minimal change disease|minimal change nephrotic syndrome|nephrotic syndrome with lesion of minimal change nephrotic syndrome|minimal change glomerulopathy|MCNS|nil disease|idiopathic minimal change nephrotic syndrome|minimal change nephropathy|minimal change glomerulonephritis NCIT:C34844|MedDRA:10058325|DOID:10966|UMLS:C0027721|MESH:D009402|GARD:0009147|SCTID:44785005|ICD10:N04|EFO:1001020 owl:Class MONDO:0015639 biolink:NamedThing benign partial epilepsy with secondarily generalized seizures in infancy Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. tmpte7i6ely_mondo_relaxed.owl ICD10:G40.1|Orphanet:166302|UMLS:CN226718 owl:Class MONDO:0021964 biolink:NamedThing bagatelle Cassidy syndrome tmpte7i6ely_mondo_relaxed.owl macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|macrocephaly short limbs deafness UMLS:C2931616|MESH:C537796|GARD:0000398 https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome owl:Class UBERON:0036657 biolink:NamedThing wall of fourth ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:29547 biolink:NamedThing Epsilonproteobacteria tmpte7i6ely_mondo_relaxed.owl Campylobacterota|epsilon subgroup|Proteobacteria epsilon subdivision|epsilon proteobacteria|Epsilonbacteraeota|Purple bacteria, epsilon subdivision|e-proteobacteria|epsilon subdivision PMID:28484436|PMID:11837318|GC_ID:11|PMID:29720974|PMID:16403855 ncbi_taxonomy owl:Class MONDO:0016787 biolink:NamedThing epithelioid trophoblastic tumor An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy. tmpte7i6ely_mondo_relaxed.owl epithelioid trophoblastic tumor|ETT ICDO:9105/3|NCIT:C6900|SCTID:609515005|DOID:3593|ONCOTREE:ETT|UMLS:C1266159|Orphanet:254698|ICD10:D39.2 owl:Class NCBITaxon:768 biolink:NamedThing Anaplasma tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11760958 ncbi_taxonomy owl:Class MONDO:0012068 biolink:NamedThing brachial palsy, familial congenital tmpte7i6ely_mondo_relaxed.owl brachial palsy, familial congenital OMIM:608585|UMLS:C1837810|MESH:C563901 owl:Class MONDO:0012153 biolink:NamedThing Alzheimer disease 9 tmpte7i6ely_mondo_relaxed.owl Alzheimer disease 9, late-onset|AD9|Alzheimer disease 9|Alzheimer disease 9, susceptibility to UMLS:C1837149|OMIM:608907|MESH:C563834|DOID:0111364|Orphanet:1020 owl:Class MONDO:0009687 biolink:NamedThing myasthenia, congenital, refractory to acetylcholinesterase inhibitors tmpte7i6ely_mondo_relaxed.owl myasthenia, congenital, refractory to acetylcholinesterase inhibitors Orphanet:590|UMLS:C1850806|MESH:C564979|OMIM:254190 owl:Class MONDO:0011637 biolink:NamedThing Sener syndrome tmpte7i6ely_mondo_relaxed.owl Sener syndrome|frontonasal dysplasia and dilated Virchow-Robin spaces|polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia OMIM:606156|MESH:C537579|UMLS:C1853616|GARD:0008451 https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome owl:Class GO:0001228 biolink:NamedThing DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. tmpte7i6ely_mondo_relaxed.owl metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, metal ion regulated sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional activator activity, zinc ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, metal ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, copper ion regulated proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional activator activity, zinc ion regulated core promoter proximal region sequence-specific binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription owl:Class HGNC:26257 biolink:NamedThing PDZD7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013297 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy limb-girdle type 1H|muscular dystrophy, limb-girdle, type 1H|limb-girdle muscular dystrophy type 1H|LGMD1H DOID:0110303|Orphanet:238755|GARD:0012532|OMIM:613530|ICD10:G71.0|UMLS:C3150786 owl:Class MONDO:0015705 biolink:NamedThing autosomal recessive centronuclear myopathy Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpte7i6ely_mondo_relaxed.owl AR-CNM|centronuclear myopathy, autosomal recessive Orphanet:169186|DOID:0111216|ICD10:G71.2|UMLS:C3645536|OMIM:255200|SCTID:240081004|GARD:0012718|OMIM:615959 owl:Class MONDO:0011788 biolink:NamedThing cloverleaf skull-multiple congenital anomalies syndrome This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. tmpte7i6ely_mondo_relaxed.owl multiple congenital anomalies syndrome with cloverleaf skull SCTID:717771007|OMIM:607161|ICD10:Q87.8|Orphanet:93267|UMLS:C1846671|MESH:C564611 owl:Class MONDO:0004889 biolink:NamedThing total central choroidal atrophy tmpte7i6ely_mondo_relaxed.owl central gyrate choroidal dystrophy|total central dystrophy of choroid|total central choroid atrophy|total central choroidal atrophy|helicoid choroid dystrophy|choroidal dystrophy, serpiginous ICD9:363.54|SCTID:392049002|DOID:9820|UMLS:C0154898 owl:Class MONDO:0003789 biolink:NamedThing hereditary papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. tmpte7i6ely_mondo_relaxed.owl hereditary papillary renal cell cancer|hereditary papillary carcinoma of kidney|hereditary papillary renal cell carcinoma|familial renal papillary carcinoma|hereditary papillary carcinoma of the kidney|hereditary kidney papillary carcinoma|hereditary papillary renal carcinoma SCTID:715561008|Orphanet:47044|NCIT:C9222|UMLS:C0879257|OMIM:605074|DOID:6163 owl:Class CHEBI:29989 biolink:NamedThing D-glutamate(2-) tmpte7i6ely_mondo_relaxed.owl (2R)-2-aminopentanedioate|D-glutamate|D-glutamate(2-)|D-glutamic acid dianion owl:Class MONDO:0014293 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 58 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 58|DFNA58|autosomal dominant nonsyndromic deafness 58|deafness, autosomal dominant 58|autosomal dominant deafness 58 OMIM:615654|DOID:0110582|ICD10:H90.3 owl:Class GO:0002053 biolink:NamedThing positive regulation of mesenchymal cell proliferation The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells. tmpte7i6ely_mondo_relaxed.owl up-regulation of mesenchymal cell proliferation|upregulation of mesenchymal cell proliferation|stimulation of mesenchymal cell proliferation|activation of mesenchymal cell proliferation|up regulation of mesenchymal cell proliferation owl:Class MONDO:0054748 biolink:NamedThing Fanconi anemia, complementation group S tmpte7i6ely_mondo_relaxed.owl Fanconi anemia, complementation GROUP S|FANCS|Fanconi anemia, complementation group S OMIM:617883 owl:Class GO:0002339 biolink:NamedThing B cell selection The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival. tmpte7i6ely_mondo_relaxed.owl B lymphocyte selection|B-cell selection|B-lymphocyte selection owl:Class MONDO:0017799 biolink:NamedThing Meigs syndrome A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. tmpte7i6ely_mondo_relaxed.owl Meigs' syndrome|Demons-Meigs syndrome ICD10:D27|UMLS:C0025184|Orphanet:314451|NCIT:C3223|ICD9:629.89|MESH:D008539|SCTID:63402005|MedDRA:10027139 owl:Class CL:1000433 biolink:NamedThing epithelial cell of lacrimal canaliculus An epithelial cell that is part of the lacrimal canaliculus. tmpte7i6ely_mondo_relaxed.owl FMA:70553 cell owl:Class HP:0002059 biolink:NamedThing Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. tmpte7i6ely_mondo_relaxed.owl Supratentorial atrophy|Degeneration of cerebrum SNOMEDCT_US:278849000|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C4020860 Atrophy may be progressive over time. HP:0002422|HP:0006890 human_phenotype owl:Class UBERON:0003518 biolink:NamedThing main bronchus blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005567 biolink:NamedThing rhombomere 1 lateral wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005501 biolink:NamedThing rhombomere lateral wall tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00005750 biolink:NamedThing grassland soil A portion of soil which is found in a grassland. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016413 biolink:NamedThing congenital hypothyroidism due to maternal intake of antithyroid drugs tmpte7i6ely_mondo_relaxed.owl Orphanet:226313|ICD10:P72.2 owl:Class NCBITaxon:29178 biolink:NamedThing Foraminifera tmpte7i6ely_mondo_relaxed.owl Foraminiferida|foraminifers|forams GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004835 biolink:NamedThing necrotizing fasciitis Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue. tmpte7i6ely_mondo_relaxed.owl SCTID:52486002|UMLS:C0238124|ICD9:728.86|ICD10:M72.6|DOID:9602|MESH:D019115|GARD:0006454|NCIT:C84916 https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis owl:Class MONDO:0010522 biolink:NamedThing X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. tmpte7i6ely_mondo_relaxed.owl enamel hypoplasia, X-linked|amelogenesis imperfecta 3 hypoplastic type|amelogenesis imperfecta 3, hypoplastic type, formerly|amelogenesis imperfecta type IE X-linked 2|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2|AIH3 (formerly)|amelogenesis imperfecta 3, hypoplastic type (formerly)|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|X-linked enamel hypoplasia|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|amelogenesis imperfecta 3, hypoplastic type|AIH3 GARD:0009944|ICD10:K00.5|OMIM:301201|UMLS:C1845051|Orphanet:100031|DOID:0110059 owl:Class MONDO:0030025 biolink:NamedThing neurodevelopmental disorder with hypotonia, microcephaly, and seizures tmpte7i6ely_mondo_relaxed.owl NEDHYMS|neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES OMIM:618862 owl:Class MONDO:0007902 biolink:NamedThing lichen planus, familial An instance of lichen planus that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl lichen planus, familial|hereditary lichen planus OMIM:151620|MESH:C563624|UMLS:C1835402 owl:Class HGNC:26158 biolink:NamedThing ELMOD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010812 biolink:NamedThing macrocytosis, familial tmpte7i6ely_mondo_relaxed.owl macrocytosis, familial UMLS:C1838656|MESH:C564004|OMIM:600084 owl:Class MONDO:0011154 biolink:NamedThing acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. tmpte7i6ely_mondo_relaxed.owl acrofacial dysostosis, Patagonia type|acrofacial dysostosis Palagonia type|Palagonia type of acrofacial dysostosis|AFD- Palagonia type|Palagonia form of AFD|acrofacial dysostosis, Palagonia type|PAFD SCTID:720429007|MESH:C538185|GARD:0000499|OMIM:601829|UMLS:C1866168|ICD10:Q75.4|Orphanet:1787|DOID:0060385 owl:Class HGNC:8761 biolink:NamedThing PDCD10 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13556 biolink:NamedThing IFT122 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000438 biolink:NamedThing luteinizing hormone secreting cell A peptide hormone secreting cell pituitary that produces luteinizing hormone. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0012187 biolink:NamedThing Fanconi anemia complementation group J Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. tmpte7i6ely_mondo_relaxed.owl Fanconi Anemia, complementation group type J|Fanconi anemia complementation group J|Fanconi anemia, complementation group J|Fanconi anemia complementation group type J|FANCJ UMLS:C1836860|OMIM:609054|NCIT:C129027|DOID:0111097|MESH:C563801 owl:Class HGNC:20473 biolink:NamedThing BRIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9587 biolink:NamedThing PTDSS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009863 biolink:NamedThing BH4-deficient hyperphenylalaninemia A An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. tmpte7i6ely_mondo_relaxed.owl hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|BH4-deficient hyperphenylalaninemia A|6-pyruvoyl tetrahydropterin synthase deficiency|HPABH4A|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency|hyperphenylalaninemia, BH4-deficient A|6-pyruvoyl-tetrahydropterin synthase deficiency|PTS deficiency|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|hyperphenylalaninemia, BH4-deficient, type A|hyperphenylalanemia, BH4-deficient, A|hyperphenylalaninemia, Bh4-deficient, type a|tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|hyperphenylalaninemia, BH4-deficient, A UMLS:C0878676|GARD:0005682|OMIM:261640|SCTID:237914002|NCIT:C138171|Orphanet:13|Orphanet:238583|GARD:5682|ICD10:E70.1|DOID:0090106|MESH:C535325 owl:Class HGNC:16999 biolink:NamedThing CLP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033548 biolink:NamedThing myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES|MYODRIF|Myopathy, Congenital, Due to Myod1 Deficiency OMIM:618975 owl:Class MONDO:0000513 biolink:NamedThing bone ameloblastoma A ameloblastoma that involves the bone tissue. tmpte7i6ely_mondo_relaxed.owl bone tissue ameloblastoma|ameloblastoma of bone tissue DOID:0050895 owl:Class UBERON:0003590 biolink:NamedThing main bronchus connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019168 biolink:NamedThing pyomyositis Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. tmpte7i6ely_mondo_relaxed.owl myositis tropicans|myositis purulenta tropica|PM|tropical pyomyositis|suppurative myositis SCTID:65110003|Orphanet:764|EFO:1001409|DOID:876|ICD9:040.81|ICD10:M60.0|UMLS:C0041188|NCIT:C128382|UMLS:C1704275|MedDRA:10037652|MESH:D052880|GARD:0004614 https://rarediseases.info.nih.gov/diseases/4614/pyomyositis owl:Class MONDO:0014276 biolink:NamedThing combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. tmpte7i6ely_mondo_relaxed.owl immunodeficiency 17|IMD17|CD3-gamma deficiency|immunodeficiency type 17|CD3gamma deficiency|combined immunodeficiency due to CD3gamma deficiency|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|CD3 deficiency UMLS:C3810107|DOID:0060018|UMLS:C4510864|OMIM:615607|Orphanet:169082|ICD10:D81.2|GARD:0009521|SCTID:725135004 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency owl:Class MONDO:0014183 biolink:NamedThing myopia 23, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MYP23|myopia 23, autosomal recessive OMIM:615431|UMLS:C3809482|Orphanet:98619 owl:Class MONDO:0014829 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 4 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency-centromeric instability-Facial anomalies syndrome 4|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4|ICF syndrome 4|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome|ICF4 ICD10:D84.8|OMIM:616911|UMLS:C4310798|DOID:0090011 owl:Class MONDO:0007223 biolink:NamedThing brachydactyly type E1 Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene. tmpte7i6ely_mondo_relaxed.owl HOXD13 brachydactyly type E|brachydactyly, type E|BDE1|brachydactyly type E caused by mutation in HOXD13|brachydactyly, type E1 MESH:C566194|Orphanet:93387|OMIM:113300|DOID:0110972 owl:Class HGNC:2457 biolink:NamedThing CSNK2A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100222 biolink:NamedThing A20 haploinsufficiency Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. tmpte7i6ely_mondo_relaxed.owl HA20 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003339 biolink:NamedThing ganglion of central nervous system tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048593 biolink:NamedThing camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpte7i6ely_mondo_relaxed.owl camera-style eye morphogenesis owl:Class MONDO:0060764 biolink:NamedThing tetraamelia syndrome 1 tmpte7i6ely_mondo_relaxed.owl tetraamelia syndrome, autosomal recessive|tetraamelia syndrome 1|TETAMS1 OMIM:273395 owl:Class HGNC:12782 biolink:NamedThing WNT3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006144 biolink:NamedThing cervical Wilms tumor An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney. tmpte7i6ely_mondo_relaxed.owl cervical Wilms' tumor|cervical Wilms tumor EFO:1000173|DOID:5190|NCIT:C40236|UMLS:C1516437 MONDO:0003323 owl:Class HGNC:2745 biolink:NamedThing DDX3X tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900016 biolink:NamedThing negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. tmpte7i6ely_mondo_relaxed.owl down regulation of cytokine production involved in inflammatory response|negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0004599 biolink:NamedThing barbiturate abuse A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. tmpte7i6ely_mondo_relaxed.owl SCTID:231462006|DOID:8519|ICD9:305.43 owl:Class MONDO:0010516 biolink:NamedThing midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis tmpte7i6ely_mondo_relaxed.owl midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN|MFHIEN|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis UMLS:C4310810|OMIM:300990 owl:Class MONDO:0014843 biolink:NamedThing premature ovarian failure 11 Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene. tmpte7i6ely_mondo_relaxed.owl primary ovarian failure caused by mutation in ERCC6|ERCC6 primary ovarian failure|premature ovarian failure 11; POF11|premature ovarian failure type 11|POF11|premature ovarian failure 11 OMIM:616946|UMLS:C4310783 owl:Class HGNC:2511 biolink:NamedThing CTNNA3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003911 biolink:NamedThing ciliary body mixed cell melanoma A mixed cell uveal melanoma that involves the ciliary body. tmpte7i6ely_mondo_relaxed.owl ciliary body mixed cell melanoma|mixed cell uveal melanoma of ciliary body|ciliary body mixed cell uveal melanoma DOID:6523|NCIT:C35783|UMLS:C1333051 owl:Class HGNC:14154 biolink:NamedThing LMF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2553 biolink:NamedThing CUL3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9312 biolink:NamedThing PPP2R5D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011712 biolink:NamedThing van der Woude syndrome 2 Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene. tmpte7i6ely_mondo_relaxed.owl Van Der Woude syndrome type 2|VAN DER Woude syndrome 2|VWS2|van der Woude syndrome 2|GRHL3 van der Woude syndrome|van der Woude syndrome caused by mutation in GRHL3 GARD:0007846|OMIM:606713|MESH:C536529|UMLS:C1847604|Orphanet:888 https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2 owl:Class MONDO:0015011 biolink:NamedThing optic atrophy 11 Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene. tmpte7i6ely_mondo_relaxed.owl YME1L1 autosomal recessive isolated optic atrophy|optic atrophy type 11|autosomal recessive isolated optic atrophy caused by mutation in YME1L1|OPA11|optic atrophy 11 UMLS:C4310628|UMLS:CN230145|DOID:0111436|OMIM:617302 owl:Class HP:0031258 biolink:NamedThing Delirium A state of sudden and severe confusion. tmpte7i6ely_mondo_relaxed.owl 2017-08-12 16:00:36+00:00 peter human_phenotype owl:Class GO:0030879 biolink:NamedThing mammary gland development The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. tmpte7i6ely_mondo_relaxed.owl mammogenesis owl:Class HGNC:6826 biolink:NamedThing MAN2B1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001838 biolink:NamedThing arid biome A biome which is subject to arid environmental conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15968 biolink:NamedThing GDAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0009125 biolink:NamedThing Lipodystrophy Degenerative changes of the fat tissue. tmpte7i6ely_mondo_relaxed.owl Inability to make and keep healthy fat tissue MSH:D008060|UMLS:C0023787|SNOMEDCT_US:71325002 peter 2008-04-05T11:40:00Z human_phenotype owl:Class MONDO:0032613 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 8 tmpte7i6ely_mondo_relaxed.owl MC1DN8|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 OMIM:618230 owl:Class HGNC:7710 biolink:NamedThing NDUFS3 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:39472 biolink:NamedThing 1,3,4-thiadiazole tmpte7i6ely_mondo_relaxed.owl 1,3,4-thiadiazole owl:Class HGNC:1373 biolink:NamedThing CA2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001608 biolink:NamedThing foreskin fibroblast Fibroblast from foreskin. tmpte7i6ely_mondo_relaxed.owl BJ fibroblast CALOHA:TS-0384 owl:Class MONDO:0011753 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|epilepsy, idiopathic generalized, susceptibility to, 2|EIG2 DOID:0111317|OMIM:606972 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0008055 biolink:NamedThing myotonia congenita, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myotonia congenita, autosomal dominant|Thomsen's disease|Thomsen and Becker disease|Thomsen disease|myotonia Levior|congenital myotonia, autosomal dominant form OMIM:160800|Orphanet:614|SCTID:57938005|ICD9:359.29 owl:Class MONDO:0014049 biolink:NamedThing urofacial syndrome 2 Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. tmpte7i6ely_mondo_relaxed.owl urofacial syndrome 2|UFS2|LRIG2 Ochoa syndrome|Ochoa syndrome caused by mutation in LRIG2|urofacial syndrome type 2 UMLS:C3554520|OMIM:615112 owl:Class HGNC:20889 biolink:NamedThing LRIG2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004275 biolink:NamedThing third ventricle choroid plexus epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013767 biolink:NamedThing autoimmune lymphoproliferative syndrome type 4 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. tmpte7i6ely_mondo_relaxed.owl ALPS4|ALPS type 4|autoimmune lymphoproliferative syndrome, type 4|RAS-associated autoimmune leukoproliferative disorder|RAS-associated autoimmune leukoproliferative disease|ALPS type IV|NRAS autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome caused by mutation in NRAS|autoimmune lymphoproliferative syndrome type IV|autoimmune lymphoproliferative syndrome type 4|RALD SCTID:723508002|Orphanet:268114|DOID:0110117|OMIM:614470|UMLS:C2674723|ICD10:D72.8 owl:Class HGNC:21641 biolink:NamedThing TSPAN12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011211 biolink:NamedThing axial spondylometaphyseal dysplasia Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion. tmpte7i6ely_mondo_relaxed.owl SMDAX|spondylometaphyseal dysplasia, axial|axial SmD|SmD axial|spondylometaphyseal dysplasia axial type|SmD, axial OMIM:602271|MESH:C535795|ICD10:Q77.8|UMLS:C1865695|GARD:0008720|Orphanet:168549 https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia owl:Class GO:0000224 biolink:NamedThing peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue. tmpte7i6ely_mondo_relaxed.owl jack-bean glycopeptidase|N-glycanase activity|N-oligosaccharide glycopeptidase activity|peptide:N-glycanase|PNGase A|glycopeptide N-glycosidase activity|glycopeptidase activity|PNGase|PNGase F|N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity owl:Class GO:0004415 biolink:NamedThing hyalurononglucosaminidase activity Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. tmpte7i6ely_mondo_relaxed.owl hyaluronoglucosaminidase activity|hyaluronidase activity|chondroitinase I activity|hyaluronate 4-glycanohydrolase activity|hyaluronoglucosidase activity|chondroitinase activity owl:Class HGNC:19263 biolink:NamedThing LMAN2L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007220 biolink:NamedThing brachydactyly type B1 Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene. tmpte7i6ely_mondo_relaxed.owl brachydactyly type B caused by mutation in ROR2|brachydactyly, type B1|BDB1|brachydactyly, type B|ROR2 brachydactyly type B MESH:C566196|Orphanet:572385|Orphanet:93383|OMIM:113000|DOID:0110969 owl:Class GO:0046930 biolink:NamedThing pore complex A protein complex providing a discrete opening in a membrane that allows the passage of gases and/or liquids. tmpte7i6ely_mondo_relaxed.owl pore|pore-forming toxin activity|channel-forming toxin activity owl:Class UBERON:0009919 biolink:NamedThing ureter smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21698 biolink:NamedThing RNF216 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001174 biolink:NamedThing conjunctival vascular disorder A disorder of the vasculature of the cornea. tmpte7i6ely_mondo_relaxed.owl disorder of conjunctival vasculature|vascular abnormalities of conjunctiva|disease of conjunctival vasculature|conjunctival vasculature disease|disease or disorder of conjunctival vasculature|conjunctival vasculature disease or disorder|conjunctival vascular abnormality|conjunctival vascular disorder SCTID:74100001|NCIT:C35116|DOID:10989|ICD10:H11.41|ICD9:372.74 owl:Class HGNC:19368 biolink:NamedThing HYDIN tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001518 biolink:NamedThing skin of wrist tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021284 biolink:NamedThing carcinoma in situ of ureter A in situ carcinoma that involves the ureter. tmpte7i6ely_mondo_relaxed.owl stage 0is carcinoma of the ureter|stage 0is ureter urothelial cancer|stage 0is carcinoma of ureter|carcinoma in situ of the ureter|ureter in situ carcinoma|stage 0is ureter carcinoma|stage 0is ureter cancer|stage 0is ureteral carcinoma|stage 0is ureter urothelial carcinoma aJCC v7|carcinoma in situ of ureter|ureter carcinoma in situ|stage 0is ureter urothelial carcinoma|ureteral carcinoma in situ|stage 0 ureter carcinoma|stage 0is ureter cancer aJCC v7|ureter cancer stage 0is UMLS:C0346267|SCTID:92782006|NCIT:C4529|ICD9:233.9 owl:Class MONDO:0014032 biolink:NamedThing brachydactyly type A1C Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene. tmpte7i6ely_mondo_relaxed.owl BDA1C|GDF5 brachydactyly type A1|brachydactyly type A1 caused by mutation in GDF5|brachydactyly, type A1, C UMLS:C3554446|Orphanet:93388|OMIM:615072|DOID:0110977 owl:Class HGNC:13902 biolink:NamedThing SERPINB7 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:142786 biolink:NamedThing Norovirus tmpte7i6ely_mondo_relaxed.owl Norwalk-like viruses GC_ID:1 ncbi_taxonomy owl:Class GO:0007626 biolink:NamedThing locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. tmpte7i6ely_mondo_relaxed.owl behavior via locomotion|locomotory behaviour|locomotory behavioural response to stimulus|locomotion in response to stimulus|locomotory behavioral response to stimulus owl:Class HGNC:11521 biolink:NamedThing TAC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010997 biolink:NamedThing supranuclear palsy, progressive, 1 Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. tmpte7i6ely_mondo_relaxed.owl PSNP1|supranuclear palsy, progressive, 1|PSP|Steele-Richardson-Olszewski syndrome|classic progressive supranuclear palsy syndrome|Richardson syndrome|classic PSP syndrome|supranuclear palsy, progressive, type 1|Steele-Richardson-Olszewski disease UMLS:C0038868|ICD10:G23.1|OMIM:601104|OMIM:610898|Orphanet:240071|UMLS:CN201679|Orphanet:683|OMIM:609454 owl:Class MONDO:0007299 biolink:NamedThing Sotos syndrome 1 Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene. tmpte7i6ely_mondo_relaxed.owl Sotos syndrome 1|NSD1 Sotos syndrome|Sotos syndrome caused by mutation in NSD1|chromosome 5Q35 deletion syndrome|Sotos syndrome|Sotos syndrome type 1|cerebral gigantism|SOTOS1 SCTID:75968004|UMLS:C0175695|Orphanet:821|OMIM:117550|UMLS:CN035106 owl:Class HGNC:379 biolink:NamedThing AKAP9 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000326 biolink:NamedThing ileal goblet cell A goblet cell that is part of the epithelium proper of ileum. tmpte7i6ely_mondo_relaxed.owl goblet cell of epithelium proper of ileum FMA:263067 cell owl:Class Ncf8627be0da14897a7473b17a2e4ce1d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0002460 biolink:NamedThing adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:471472 biolink:NamedThing Chlamydia trachomatis 434/Bu tmpte7i6ely_mondo_relaxed.owl Chlamydia trachomatis str. 434/Bu|Chlamydia trachomatis strain 434/Bu GC_ID:11 ncbi_taxonomy owl:Class FOODON:03420177 biolink:NamedThing gluten Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=C0177 http://langual.org owl:Class HsapDv:0000082 biolink:NamedThing newborn human stage Immature stage that refers to a newborn who is under 32 days old. tmpte7i6ely_mondo_relaxed.owl neonate|neonatal stage|0-1 month owl:Class CHEBI:37806 biolink:NamedThing penicillanic acid A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration. tmpte7i6ely_mondo_relaxed.owl penicillanic acid|(2S,5R)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|2,2-dimethylpenam-3alpha-carboxylic acid owl:Class UBERON:0009672 biolink:NamedThing oronasal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0009743 biolink:NamedThing Distichiasis Double rows of eyelashes. tmpte7i6ely_mondo_relaxed.owl Distichiasis of eyelid eyelashes UMLS:C0423848|SNOMEDCT_US:95339000 Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. peter 2009-01-31T02:07:50Z human_phenotype owl:Class GO:0006090 biolink:NamedThing pyruvate metabolic process The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. tmpte7i6ely_mondo_relaxed.owl pyruvate metabolism|pyruvate dehydrogenase bypass owl:Class UBERON:0003825 biolink:NamedThing nerve of abdominal segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013258 biolink:NamedThing autism, susceptibility to, 16 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, type 16|autism with or without seizures|autism, susceptibility to, 16|AUTS16|susceptibility to autism 16 OMIM:613410 owl:Class MONDO:0007785 biolink:NamedThing hyperthyroxinemia, dystransthyretinemic tmpte7i6ely_mondo_relaxed.owl Euthryroidal hyperthyroxinemia 2|dystransthyretinemic hyperthyroxinemia|hyperthyroxinemia, dystransthyretinemic|DTTRH|dystransthyretinemic Euthyroidal hyperthyroxinemia|hyperthyroxinemia, Dysprealbuminemic DOID:0080219|MESH:C567719|OMIM:145680|UMLS:C2750824 owl:Class MONDO:0004554 biolink:NamedThing childhood kidney angiomyolipoma An angiomyolipoma occurring in childhood. tmpte7i6ely_mondo_relaxed.owl childhood renal angiomyolipoma|kidney angiomyolipoma of childhood|pediatric kidney angiomyolipoma|pediatric renal angiomyolipoma DOID:8410|NCIT:C6565|UMLS:C1333000 owl:Class PATO:0001789 biolink:NamedThing domed A curvature quality inhering in a bearer by virtue of the bearer's having a shape resembling a dome. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014958 biolink:NamedThing Harel-Yoon syndrome tmpte7i6ely_mondo_relaxed.owl Harel-Yoon syndrome; HAYOS|Harel-Yoon syndrome|HAYOS OMIM:617183|UMLS:C4310677 owl:Class HP:0000556 biolink:NamedThing Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. tmpte7i6ely_mondo_relaxed.owl Breakdown of light-sensitive cells in back of eye SNOMEDCT_US:314407005|UMLS:C0854723|MSH:D058499 HP:0007974|HP:0007982|HP:0007736|HP:0007910 human_phenotype owl:Class UBERON:0003724 biolink:NamedThing musculocutaneous nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10472 biolink:NamedThing RUNX2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005111 biolink:NamedThing metanephric pyramid tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4847 biolink:NamedThing HCRT tmpte7i6ely_mondo_relaxed.owl owl:Class Nde85caa16b9144478b18c8f8e081d806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003264 biolink:NamedThing basosquamous carcinoma A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. tmpte7i6ely_mondo_relaxed.owl basosquamous cell carcinoma|skin basosquamous cell carcinoma|basosquamous tumor, malignant|basosquamous carcinoma|skin mixed basal and squamous cell carcinoma|Basisquamous cell carcinoma|metatypical carcinoma (morphologic abnormality)|metatypical carcinoma UMLS:C0007118|EFO:1000529|MESH:D002281|SCTID:254702000|NCIT:C2922|DOID:5063|ICDO:8094/3 MONDO:0006413 owl:Class MONDO:0013975 biolink:NamedThing ectodermal dysplasia 7, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene. tmpte7i6ely_mondo_relaxed.owl ECTD7|KRT74 pure hair and nail ectodermal dysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT74|ectodermal dysplasia 7, hair/nail type UMLS:C3554117|DOID:0111660|Orphanet:69084|OMIM:614929 owl:Class GO:0031424 biolink:NamedThing keratinization The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003312 biolink:NamedThing ovarian endometrioid stromal and related neoplasms A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. tmpte7i6ely_mondo_relaxed.owl endometrioid stromal and related neoplasms of ovary|ovarian endometrioid stromal and related neoplasms|ovary endometrioid stromal and related neoplasms|ovarian endometrioid stromal sarcoma NCIT:C40065|DOID:5169|UMLS:C4288544 owl:Class CHEBI:38976 biolink:NamedThing alkylbenzene A monocyclic arene that is benzene substituted with one or more alkyl groups. tmpte7i6ely_mondo_relaxed.owl alkylbenzene|alkylbenzenes|Alkylbenzol owl:Class HGNC:24862 biolink:NamedThing MOGS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019535 biolink:NamedThing drug-induced autoimmune hemolytic anemia Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms. tmpte7i6ely_mondo_relaxed.owl drug-induced AIHA Orphanet:90037|ICD10:D59.0|SCTID:309742004 owl:Class HGNC:3267 biolink:NamedThing EIF2S3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014266 biolink:NamedThing age related macular degeneration 15 Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene. tmpte7i6ely_mondo_relaxed.owl macular degeneration, age-related, 15|age related macular degeneration type 15|ARMD15|macular Degeneration, age-related, type 15|C9 age-related macular degeneration|age-related macular degeneration caused by mutation in C9 OMIM:615591|UMLS:C3810042|DOID:0110027 owl:Class NCBITaxon:34625 biolink:NamedThing Hyalomma tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010213 biolink:NamedThing xeroderma pigmentosum group E An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum group type E|xeroderma pigmentosum, type 5|xeroderma pigmentosum group E|xeroderma pigmentosum 5|XPE|xeroderma pigmentosum, complementation group type E|XP, Group E|xeroderma pigmentosum, complementation group E|xeroderma pigmentosum V|XP group E|XPe|XP5|XP-E SCTID:56048001|NCIT:C114771|OMIM:278740|GARD:0005627|UMLS:C1848411|DOID:0110846|MESH:C564732|ICD10:Q82.1|Orphanet:910|Orphanet:276261 owl:Class HGNC:1698 biolink:NamedThing CD79A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7523 biolink:NamedThing TRIM37 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014823 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 3 A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. tmpte7i6ely_mondo_relaxed.owl IHPRF3|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3|TBCK-related intellectual disability syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies 3 OMIM:616900|UMLS:C4225161|Orphanet:488632 owl:Class HGNC:28261 biolink:NamedThing TBCK tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11095 biolink:NamedThing Pestivirus tmpte7i6ely_mondo_relaxed.owl PMID:12832207|PMID:7747470|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004545 biolink:NamedThing adult malignant schwannoma A malignant peripheral nerve sheath tumor occurring during adulthood. tmpte7i6ely_mondo_relaxed.owl adult malignant neurilemmoma|adult malignant peripheral nerve sheath neoplasm|adult malignant neoplasm of peripheral nerve sheath|adult malignant tumor of peripheral nerve sheath|adult malignant tumor of the peripheral nerve sheath|adult malignant peripheral nerve sheath tumor|adult MPNST|adult malignant schwannoma|adult malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor NCIT:C7814|UMLS:C0278622|DOID:8369 owl:Class FOODON:00002501 biolink:NamedThing multi-component food product A food product consisting of food material derived from ingredients sourced from multiple organisms. tmpte7i6ely_mondo_relaxed.owl 2019-01-23 22:40:32+00:00 The definition of this is being discussed in issue: https://github.com/FoodOntology/foodon/issues/57 Namely, how to characterize the threshold of ingredients that make for multi-component classification? Salt, pepper, spices wouldn't normally make a food multi-component? multi-ingredient Damion Dooley owl:Class FOODON:03400139 biolink:NamedThing multicomponent meal (us cfr) A multiple-component food product typically containing a protein source, a vegetable, and a potato, rice or cereal-based component packaged to be served after heating, either as separate items or courses or mixed as recipe components; see 21 CFR 102.26, 102.28 and 104.47 for nutritional quality guidelines. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0139 dinner with components separated in serving containers|dinner, compartmentalized|heat and serve dinner|compartmentalized dinner|multiple-course dinner|tv dinner|food packs with separate components http://langual.org owl:Class MONDO:0014442 biolink:NamedThing Bardet-Biedl syndrome 14 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome 14|Bardet-Biedl syndrome type 14|BBS14 OMIM:615991|MESH:C567141|UMLS:C2673874|ICD10:Q87.89|Orphanet:110|DOID:0110136 owl:Class MONDO:0004797 biolink:NamedThing mononeuritis of lower limb A mononeuritis simplex that involves the hindlimb. tmpte7i6ely_mondo_relaxed.owl mononeuritis simplex of hindlimb|hindlimb mononeuritis simplex ICD9:355|DOID:9473|ICD9:355.8 owl:Class HGNC:27962 biolink:NamedThing STING1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008971 biolink:NamedThing left colon tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060784 biolink:NamedThing regulation of cell proliferation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010400 biolink:NamedThing spleen trabecular vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3681 biolink:NamedThing FGF3 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:10368 biolink:NamedThing Human betaherpesvirus 6 tmpte7i6ely_mondo_relaxed.owl HHV6|Herpesvirus type 6|Human herpesvirus type 6|Human herpesvirus 6|human herpesvirus type 6 HHV-6|herpes simplex virus type 6|human herpesvirus 6 HHV-6|herpesvirus 6 HHV-6|HHV-6 GC_ID:1 NCBITaxon:41670 ncbi_taxonomy owl:Class CL:0005020 biolink:NamedThing lymphangioblast Lymphatic progenitor cells. tmpte7i6ely_mondo_relaxed.owl Usually express Prox1, or prox1b. Ceri 2012-01-12T04:44:34Z cell owl:Class MONDO:0004478 biolink:NamedThing pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. tmpte7i6ely_mondo_relaxed.owl chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL with unmutated IGVH UMLS:C1333038|DOID:8144|NCIT:C37204 owl:Class HGNC:3386 biolink:NamedThing EPHA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008303 biolink:NamedThing familial male-limited precocious puberty Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. tmpte7i6ely_mondo_relaxed.owl familial Testotoxicosis (subtype)|testotoxicosis|LHCGR peripheral precocious puberty|male-limited precocious puberty|pubertas praecox|sexual precocity, familial, gonadotropin-independent|precocious puberty, male limited|familial gonadotropin-independent male-limited sexual precocity|FMPP|testotoxicosis, familial|precocious puberty, male-limited|peripheral precocious puberty caused by mutation in LHCGR|Leydig cell adenoma, somatic, with male-limited precocious puberty GARD:0004475|OMIM:176410|ICD10:E30.1|SCTID:237818003|MedDRA:10063656|DOID:0111545|Orphanet:3000|MedDRA:10063654|UMLS:C1504412 owl:Class OBO:MF_0000033 biolink:NamedThing mental disposition A mental disposition is a bodily disposition that is realized in a mental process. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:12721 biolink:NamedThing Human immunodeficiency virus tmpte7i6ely_mondo_relaxed.owl HIV|AIDS virus GC_ID:1 ncbi_taxonomy owl:Class HGNC:1762 biolink:NamedThing CDH3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013518 biolink:NamedThing pituitary hormone deficiency, combined, 6 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene. tmpte7i6ely_mondo_relaxed.owl pituitary hormone deficiency, combined, 6|OTX2 combined pituitary hormone deficiencies, genetic form|pituitary hormone deficiency, combined, type 6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|CPHD6 Orphanet:95494|UMLS:C3151440|OMIM:613986 owl:Class HGNC:4908 biolink:NamedThing HIBCH tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3960 biolink:NamedThing FSCN2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000999 biolink:NamedThing Pyoderma Any manifestation of a skin disease associated with the production of pus. tmpte7i6ely_mondo_relaxed.owl Pus-filled lesion SNOMEDCT_US:70759006|UMLS:C0034212|MSH:D011711 Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. human_phenotype owl:Class HGNC:9082 biolink:NamedThing PLOD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013835 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene. tmpte7i6ely_mondo_relaxed.owl ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD|Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|MDDGA7 OMIM:614643|DOID:0111234|UMLS:C3553330|Orphanet:899 owl:Class MONDO:0013644 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2O Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2O|DYNC1H1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|CMT2O|Charcot-Marie-Tooth neuropathy axonal type 2O|Charcot-Marie-Tooth neuropathy, axonal, type 2O|autosomal dominant Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth disease, axonal, type 2O GARD:0012434|UMLS:C3280220|ICD10:G60.0|OMIM:614228|Orphanet:284232|DOID:0110175 owl:Class HGNC:16472 biolink:NamedThing SLC45A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008260 biolink:NamedThing Kindler syndrome Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. tmpte7i6ely_mondo_relaxed.owl poikiloderma, hereditary acrokeratotic|KINDLER syndrome|bullous acrokeratotic poikiloderma of Kindler and Weary|KNDLRS|congenital bullous poikiloderma|poikiloderma, congenital, with bullae, Weary type|KS|poikiloderma of Kindler|Kindler syndrome MESH:C536321|OMIM:173650|GARD:0004391|SCTID:238836000|ICD10:Q81.8|DOID:0060472|Orphanet:2908 owl:Class MONDO:0019036 biolink:NamedThing amoebiasis due to free-living amoebae Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. tmpte7i6ely_mondo_relaxed.owl ICD10:B60.1|ICD10:B60.2|UMLS:CN205519|GARD:0012650|Orphanet:68 https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae owl:Class MONDO:0005660 biolink:NamedThing Avulavirus infectious disease Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl. tmpte7i6ely_mondo_relaxed.owl MESH:D045463|EFO:0007161|UMLS:C1258034 owl:Class HGNC:18337 biolink:NamedThing PADI3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1674 biolink:NamedThing CD3E tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016825 biolink:NamedThing mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. tmpte7i6ely_mondo_relaxed.owl mitochondrial myopathy with lactic acidosis|mitochondrial myopathy-lactic acidosis-hearing loss syndrome|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness|MMLA ICD10:G71.3|Orphanet:2597|GARD:0003682|MESH:C537476|OMIM:251950 https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis owl:Class HGNC:4329 biolink:NamedThing GLRB tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0001659 biolink:NamedThing temperature homeostasis A homeostatic process in which an organism modulates its internal body temperature. tmpte7i6ely_mondo_relaxed.owl thermoregulation owl:Class MONDO:0012975 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 3B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant type 3B|deafness, autosomal dominant 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6|autosomal dominant nonsyndromic deafness 3B|autosomal dominant nonsyndromic deafness type 3B|DFNA3B|autosomal dominant deafness 3B|GJB6 autosomal dominant nonsyndromic deafness OMIM:612643|UMLS:C2675237|DOID:0110565|ICD10:H90.3|MESH:C567215 owl:Class HGNC:2372 biolink:NamedThing MED23 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:29988 biolink:NamedThing L-glutamate(2-) An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid. tmpte7i6ely_mondo_relaxed.owl (2S)-2-aminopentanedioate|L-glutamate|L-glutamate(2-)|L-glutamic acid dianion owl:Class UBERON:0003474 biolink:NamedThing meningeal artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012539 biolink:NamedThing Joubert syndrome 6 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. tmpte7i6ely_mondo_relaxed.owl Joubert syndrome type 6|JBTS6|Joubert syndrome caused by mutation in TMEM67|Joubert syndrome 6|TMEM67 Joubert syndrome OMIM:610688|MESH:C537689|Orphanet:475|UMLS:C1853153|DOID:0111001 owl:Class MONDO:0009785 biolink:NamedThing opsismodysplasia Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl OPSISMODYSPLASIA|opsismodysplasia|OPSMD UMLS:C0432219|Orphanet:2746|OMIM:258480|SCTID:254068007|MESH:C537122|GARD:0004098|ICD10:Q78.8 https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia owl:Class MONDO:0016818 biolink:NamedThing Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). tmpte7i6ely_mondo_relaxed.owl microcephaly-hypergonadotropic hypogonadism-short stature syndrome ICD10:E22.8|Orphanet:2558|UMLS:CN202088 owl:Class HsapDv:0000120 biolink:NamedThing 26-year-old human stage Adult stage that refers to an adultwho is over 26 and under 27. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11528 biolink:NamedThing TACR3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002812 biolink:NamedThing Coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:74820003|MSH:D060905|UMLS:C0239138 The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. human_phenotype owl:Class HGNC:23161 biolink:NamedThing ALG8 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18127 biolink:NamedThing TUBGCP6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013897 biolink:NamedThing Loeys-Dietz syndrome 4 Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene. tmpte7i6ely_mondo_relaxed.owl aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|Loeys-Dietz syndrome type 4|Loeys-Dietz syndrome 4|TGFB2 Loeys-Dietz syndrome|LDS4|Loeys-Dietz syndrome caused by mutation in TGFB2 GARD:0010588|UMLS:C3553762|Orphanet:91387|DOID:0070233|OMIM:614816 owl:Class ENVO:01001781 biolink:NamedThing part of a landmass A solid astronomical body part which is part of the landmass of that body. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009680 biolink:NamedThing set of upper jaw teeth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014472 biolink:NamedThing periodic fever-infantile enterocolitis-autoinflammatory syndrome tmpte7i6ely_mondo_relaxed.owl NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|NLRC4-related MAS|AIFEC|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related macrophage activation syndrome|autoinflammation with infantile enterocolitis|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|NLRC4-related autoinflammatory syndrome with MAS UMLS:C4015067|Orphanet:436166|ICD10:E85.0|OMIM:616050 owl:Class HGNC:21474 biolink:NamedThing INPP5E tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009487 biolink:NamedThing keratoconus and congenital hip dysplasia tmpte7i6ely_mondo_relaxed.owl keratoconus and congenital hip dysplasia MESH:C565456|OMIM:244510|UMLS:C1855647 owl:Class GO:0061534 biolink:NamedThing gamma-aminobutyric acid secretion, neurotransmission The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29277 biolink:NamedThing ZNF687 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28727 biolink:NamedThing APOO tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002257 biolink:NamedThing epithelial cell of thyroid gland An epithelial cell of thyroid gland. tmpte7i6ely_mondo_relaxed.owl FMA:256167 tmeehan 2010-09-08T01:46:51Z CL:1000297 cell owl:Class NCBITaxon:5579 biolink:NamedThing Aureobasidium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5759 biolink:NamedThing Entamoeba histolytica tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr2q35 biolink:NamedThing 2q35 (Human) tmpte7i6ely_mondo_relaxed.owl 220700000 214500000 hg38 owl:Class OBO:CHR_9606-chrXp22 biolink:NamedThing Xp22 (Human) tmpte7i6ely_mondo_relaxed.owl 24900000 0 hg38 owl:Class HGNC:11634 biolink:NamedThing TCF4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013837 biolink:NamedThing deafness-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. tmpte7i6ely_mondo_relaxed.owl hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|coenzyme Q10 deficiency, primary, 2|coenzyme Q10 deficiency, primary, type 2|COQ10D2 ICD10:E88.8|OMIM:614651|DOID:0070239|Orphanet:254898|UMLS:C3553354 owl:Class GO:0001501 biolink:NamedThing skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). tmpte7i6ely_mondo_relaxed.owl skeletal development owl:Class HGNC:11610 biolink:NamedThing TCAP tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000286 biolink:NamedThing Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. tmpte7i6ely_mondo_relaxed.owl Epicanthic folds|Plica palpebronasalis|Epicanthal fold|Epicanthal folds|Prominent eye folds|Eye folds|Palpebronasal fold UMLS:C0678230 In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. HP:0007930|HP:0000624 human_phenotype owl:Class MONDO:0010839 biolink:NamedThing autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. tmpte7i6ely_mondo_relaxed.owl autosomal dominant benign distal spinal muscular atrophy|neuropathy, distal hereditary motor, type 8|HMN8|congenital benign spinal muscular atrophy with contractures|spinal muscular atrophy, congenital benign, with contractures|spinal muscular atrophy, distal, congenital nonprogressive|neuronopathy, distal hereditary motor, type VIII|congenital nonprogressive spinal muscular atrophy|neuronopathy, distal hereditary motor, type 8 DOID:0111215|MESH:C563981|Orphanet:1216|OMIM:600175|UMLS:C1838492|SCTID:763067000|ICD10:G12.2 owl:Class CL:1000222 biolink:NamedThing stomach neuroendocrine cell tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000737 biolink:NamedThing Irritability A proneness to anger, i.e., a condition of being easily bothered or annoyed. tmpte7i6ely_mondo_relaxed.owl Irritability|Irritable UMLS:C2700617 human_phenotype owl:Class CL:1001572 biolink:NamedThing colon endothelial cell A vascular endothelial cell found in colon blood vessels. tmpte7i6ely_mondo_relaxed.owl colonic endothelial cell|colon endothelial cells CALOHA:TS-2397 owl:Class CL:0001200 biolink:NamedThing lymphocyte of B lineage, CD19-positive A lymphocyte of B lineage that is CD19-positive. tmpte7i6ely_mondo_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). https://orcid.org/0000-0001-9990-8331 cell owl:Class MONDO:0012527 biolink:NamedThing cataract 11 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene. tmpte7i6ely_mondo_relaxed.owl PITX3 early-onset non-syndromic cataract|cataract 11, multiple types|CTRCT11|cataract 11 with microphthalmia and neurodevelopmental abnormalities|cataract, posterior polar, 4|Cpp4|posterior polar cataract 4|early-onset non-syndromic cataract caused by mutation in PITX3|CPP4|CTPP4|Posterior polar cataract, 4 DOID:0110249|OMIM:610623|GARD:0010228|Orphanet:98993|ICD10:Q12.0|MESH:C535344|Orphanet:91492 owl:Class HGNC:9006 biolink:NamedThing PITX3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018602 biolink:NamedThing necrotizing soft tissue infection tmpte7i6ely_mondo_relaxed.owl NSTI UMLS:CN237632|ICD9:729.99|ICD9:136.9|UMLS:C2732890|Orphanet:440368|ICD10:M72.6|SCTID:443928008 owl:Class MONDO:0015130 biolink:NamedThing acquired chronic primary adrenal insufficiency An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired chronic primary adrenal insufficiency Orphanet:101963 owl:Class HGNC:7467 biolink:NamedThing MTTP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014963 biolink:NamedThing Shashi-Pena syndrome tmpte7i6ely_mondo_relaxed.owl Shashi-Pena syndrome|Shashi-Pena syndrome; SHAPNS|SHAPNS UMLS:C4310672|OMIM:617190 owl:Class ENVO:00000304 biolink:NamedThing shore That part of the land in immediate contact with a body of water including the area between high and low water lines. tmpte7i6ely_mondo_relaxed.owl SHORE|beach face|shore|shoreface|coastal zone|rivage|inshore|seashore|strand|foreshore owl:Class GO:0060374 biolink:NamedThing mast cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18712 biolink:NamedThing LGI4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044344 biolink:NamedThing Schistosoma japonicum infectious disease An infection that is caused by Schistosoma japonicum. tmpte7i6ely_mondo_relaxed.owl Katayama disease|Schistosoma japonicum disease or disorder|Katamaya syndrome|Katamaya fever|schistosomiasis japonicum|Schistosoma japonicum infection|Schistosoma japonicum caused disease or disorder|Asiatic schistosomiasis SCTID:268058007|MESH:D012554|NCIT:C35001 owl:Class NCBITaxon:6182 biolink:NamedThing Schistosoma japonicum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011920 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 48 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 48|autosomal dominant deafness 48|MYO1A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 48|autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|deafness, autosomal dominant type 48|autosomal dominant nonsyndromic deafness 48|DFNA48 ICD10:H90.3|DOID:0110571|UMLS:C1842939|OMIM:607841|MESH:C564322 owl:Class HGNC:7595 biolink:NamedThing MYO1A tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:9002066 biolink:NamedThing exposure to refrigerant An exposure to refrigerant. tmpte7i6ely_mondo_relaxed.owl exposure to refrigerant owl:Class CHEBI:78433 biolink:NamedThing refrigerant A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. tmpte7i6ely_mondo_relaxed.owl refrigerants owl:Class MONDO:0014216 biolink:NamedThing primary ciliary dyskinesia 28 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene. tmpte7i6ely_mondo_relaxed.owl primary ciliary dyskinesia 28 with or without situs inversus|SPAG1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 28|CILD28|primary ciliary dyskinesia caused by mutation in SPAG1|ciliary dyskinesia, primary, type 28|primary ciliary dyskinesia type 28|ciliary dyskinesia, primary, 28, with or without situs inversus DOID:0110607|UMLS:C3809706|ICD10:Q34.8|OMIM:615505 owl:Class HsapDv:0000097 biolink:NamedThing 3-year-old human stage Child stage that refers to a child who is over 3 and under 4 years old. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0020550 biolink:NamedThing auricular blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0014675 biolink:NamedThing distal interphalangeal joint of pedal digit 5 tmpte7i6ely_mondo_relaxed.owl owl:Class HsapDv:0000133 biolink:NamedThing 39-year-old human stage Adult stage that refers to an adult who is over 39 and under 40. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009803 biolink:NamedThing congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta congenita, microcephaly, and cataracts OMIM:259410|MESH:C537558|ICD10:Q78.0|Orphanet:2772|UMLS:C1850184 owl:Class MONDO:0002029 biolink:NamedThing chronic gonorrhea of cervix Chronic form of gonococcal cervicitis. tmpte7i6ely_mondo_relaxed.owl chronic gonococcal cervicitis|gonococcal cervicitis, chronic DOID:1512|ICD9:098.35|SCTID:76802005|UMLS:C0153206 owl:Class MONDO:0014858 biolink:NamedThing intellectual disability, autosomal dominant 43 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene. tmpte7i6ely_mondo_relaxed.owl HIVEP2-related intellectual disability|intellectual disability, autosomal dominant type 43|mental retardation, autosomal dominant type 43|HIVEP2 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 43|intellectual disability, autosomal dominant 43|autosomal dominant intellectual disability-43|autosomal dominant non-syndromic intellectual disability 43|MRD43|autosomal dominant intellectual disability 43|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|autosomal dominant mental retardation 43 GARD:0013179|DOID:0070073|OMIM:616977|SCTID:765434008|UMLS:C4310771 owl:Class HGNC:31399 biolink:NamedThing SLC6A17 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000514 biolink:NamedThing smooth muscle myoblast A precursor cell destined to differentiate into smooth muscle myocytes. tmpte7i6ely_mondo_relaxed.owl satellite cell|myoblast, smooth muscle FMA:84798 cell owl:Class HGNC:17935 biolink:NamedThing CD207 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008946 biolink:NamedThing lung parenchyma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:2007013 biolink:NamedThing preplacodal ectoderm tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2702 biolink:NamedThing Gardnerella vaginalis tmpte7i6ely_mondo_relaxed.owl Corynebacterium vaginale|Haemophilus vaginalis|Haemophilus hemolyticus vaginalis GC_ID:11|PMID:14361525|PMID:8782675 ncbi_taxonomy owl:Class UBERON:0000124 biolink:NamedThing epineurium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016986 biolink:NamedThing congenital smooth muscle hamartoma Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. tmpte7i6ely_mondo_relaxed.owl SCTID:239144007|ICD9:759.6|UMLS:C0406819|Orphanet:263435 owl:Class MONDO:0013528 biolink:NamedThing intellectual disability, autosomal recessive 14 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 14|TECR autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 14|intellectual disability, autosomal recessive 14|MRT14|mental retardation, autosomal recessive type 14|autosomal recessive non-syndromic intellectual disability caused by mutation in TECR UMLS:C3151462|OMIM:614020 owl:Class HGNC:5996 biolink:NamedThing IL1RAPL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014423 biolink:NamedThing severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. tmpte7i6ely_mondo_relaxed.owl IMD26|immunodeficiency 26 with or without neurologic abnormalities|SCID due to DNA-PKcs deficiency Orphanet:317425|SCTID:716871006|UMLS:C4014833|OMIM:615966|ICD10:D81.1 owl:Class HGNC:9413 biolink:NamedThing PRKDC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011102 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 12 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 12|TECTA autosomal dominant nonsyndromic deafness|DFNA12|deafness, autosomal dominant type 12|autosomal dominant nonsyndromic deafness type 12|deafness, autosomal dominant 12|autosomal dominant nonsyndromic deafness caused by mutation in TECTA|DFNA8|deafness, autosomal dominant 8|autosomal dominant deafness 8|autosomal dominant nonsyndromic deafness 12 MESH:C563295|ICD10:H90.3|DOID:0110544|OMIM:601543|UMLS:C1832187 owl:Class ENVO:09200002 biolink:NamedThing environmental system process quality The quality of a environmental system process. tmpte7i6ely_mondo_relaxed.owl quality of environmental system process owl:Class MONDO:0015694 biolink:NamedThing malignant melanoma of the mucosa A melanoma (disease) that involves the mucosa. tmpte7i6ely_mondo_relaxed.owl mucosa melanoma|melanoma (disease) of mucosa|mucosa melanoma (disease) Orphanet:168999|GARD:0012649|UMLS:CN200193 owl:Class HGNC:492 biolink:NamedThing ANK1 tmpte7i6ely_mondo_relaxed.owl owl:Class N82b86e3427ba45d29903132a42f690e1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015764 biolink:NamedThing mosaic trisomy 20 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. tmpte7i6ely_mondo_relaxed.owl Mosaic trisomy type 20|Mosaic trisomy chromosome 20 Orphanet:1724|ICD10:Q92.1 owl:Class MONDO:0006952 biolink:NamedThing retinopathy of prematurity A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. tmpte7i6ely_mondo_relaxed.owl Terry syndrome|retrolental fibroplasia|ROP|premature retinopathy EFO:1001158|MedDRA:10038933|OMIM:133780|ICD10:H35.10|MESH:D012178|DOID:13025|Orphanet:90050|UMLS:C0035344|GARD:0005695|ICD9:362.20|NCIT:C34982|SCTID:415297005|ICD9:362.21|ICD10:H35.17|ICD10:H35.1 owl:Class UBERON:0003573 biolink:NamedThing arm connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003584 biolink:NamedThing mammary gland connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24675 biolink:NamedThing hydroxybenzoate Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent. tmpte7i6ely_mondo_relaxed.owl hydroxybenzoates owl:Class MONDO:0013065 biolink:NamedThing premature ovarian failure 7 Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene. tmpte7i6ely_mondo_relaxed.owl premature ovarian failure type 7|Pof7|premature ovarian failure 7|NR5A1 primary ovarian failure|adrenal insufficiency, Nr5A1-related|primary ovarian failure caused by mutation in NR5A1 OMIM:612964|MESH:C567838|UMLS:C2751825 owl:Class OBO:CHR_9606-chr4p1 biolink:NamedThing 4p1 (Human) tmpte7i6ely_mondo_relaxed.owl 50000000 0 hg38 owl:Class HGNC:24592 biolink:NamedThing STEAP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015341 biolink:NamedThing congenital panfollicular nevus Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. tmpte7i6ely_mondo_relaxed.owl congenital panfollicular nevus|congenital panfollicular nevus (disease) congenital panfollicular nevus (disease) Orphanet:139414|HP:0025471 owl:Class MONDO:0003753 biolink:NamedThing nasal vestibule squamous papilloma A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule. tmpte7i6ely_mondo_relaxed.owl nasal vestibule squamous papilloma|squamous papilloma of nasal vestibule|squamous papilloma of the nasal vestibule|nasal vestibule papilloma|papilloma of nasal vestibule|papilloma of the nasal vestibule SCTID:232364006|DOID:6059|UMLS:C0339826|ICD9:478.19|NCIT:C4369 owl:Class UBERON:0002803 biolink:NamedThing right parietal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2529 biolink:NamedThing CTSD tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002183 biolink:NamedThing stem cell of gastric gland A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit. tmpte7i6ely_mondo_relaxed.owl FMA:62953 tmeehan 2010-08-25T03:57:08Z CL:1000400 cell owl:Class MONDO:0017972 biolink:NamedThing classic congenital lipoid adrenal hyperplasia due to STAR deficency tmpte7i6ely_mondo_relaxed.owl classic CLAH ICD10:E25.0|Orphanet:325524 owl:Class HGNC:9122 biolink:NamedThing PMS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014490 biolink:NamedThing ketoacidosis due to monocarboxylate transporter-1 deficiency tmpte7i6ely_mondo_relaxed.owl MCT1D|monocarboxylate transporter 1 deficiency ICD10:E88.8|OMIM:616095|Orphanet:438075|UMLS:C4015186 owl:Class HGNC:10922 biolink:NamedThing SLC16A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6595 biolink:NamedThing LHX3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25535 biolink:NamedThing TMEM38B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024542 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|CAMRQ1|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|VLDLR dysequilibrium syndrome|dysequilibrium syndrome|dysequilibrium syndrome caused by mutation in VLDLR|cerebellar ataxia, congenital, and mental retardation, autosomal recessive|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1 UMLS:CN074243|Orphanet:1766|OMIM:224050 owl:Class HGNC:12698 biolink:NamedThing VLDLR tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007288 biolink:NamedThing presumptive forebrain midbrain boundary tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8877 biolink:NamedThing PFKM tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001239 biolink:NamedThing forest canopy tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0008009 biolink:NamedThing transversely striated visceral muscle cell A visceral muscle that is transversely striated. Examples include the visceral muscle cells of arthropods. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044717 biolink:NamedThing 4q25 proximal deletion syndrome tmpte7i6ely_mondo_relaxed.owl proximal del(4)(q25)|proximal monosomy 4q25 Orphanet:502437 owl:Class MONDO:0010398 biolink:NamedThing syndromic X-linked intellectual disability 14 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic type 14|MRXS14|UPF3B X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic 14|intellectual disability, X-linked, syndromic 14|mental retardation, X-linked, syndromic type 14|syndromic X-linked intellectual disability 14|syndromic X-linked intellectual disability type 14|X-linked syndromic intellectual disability caused by mutation in UPF3B Orphanet:776|DOID:0060821|MESH:C567063|OMIM:300676|ICD10:Q87.8|UMLS:C1970822 owl:Class HGNC:20439 biolink:NamedThing UPF3B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2577 biolink:NamedThing CYBA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24671 biolink:NamedThing FLAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26019 biolink:NamedThing BPNT2 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000442 biolink:NamedThing urothelial cell of trigone of urinary bladder An urothelial cell that is part of the trigone of urinary bladder. tmpte7i6ely_mondo_relaxed.owl epithelial cell of vesical trigone FMA:70598 cell owl:Class UBERON:0007175 biolink:NamedThing inferior angle of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class N5a3ce0c2de854842800a4915ee53c4ae biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl PO:0009086 biolink:NamedThing endocarp A portion of plant tissue (PO:0009007) that is the innermost differentiated layer of a pericarp (PO:0009084). tmpte7i6ely_mondo_relaxed.owl endocarpo (Spanish, exact)|citrus pulp (related)|portion of endocarp tissue (exact)|inner epidermis of pericarp (related)|citrus flesh (related)|内果皮 (Japanese, exact) PO_GIT:149|PO_GIT:511 PO:0006047 plant_anatomy owl:Class GO:0060562 biolink:NamedThing epithelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:28344 biolink:NamedThing Porcine reproductive and respiratory syndrome virus tmpte7i6ely_mondo_relaxed.owl PRRSV|porcine reproductive and respiratory syndrome virus, PRRSV|Porcine respiratory and reproductive syndrome virus|Porcine reproductive and respiratory syndrome virus (PRRSV)|porcine reproductive and respiratory syndrome virus PRRSV GC_ID:1 NCBITaxon:70172|NCBITaxon:12796 ncbi_taxonomy owl:Class MONDO:0010820 biolink:NamedThing autosomal recessive juvenile Parkinson disease 2 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. tmpte7i6ely_mondo_relaxed.owl Parkinson disease, juvenile, autosomal recessive|autosomal recessive juvenile Parkinson's disease 2|PARK2|juvenile parkinsonism|autosomal recessive juvenile Parkinson disease|JP|PDJ|Parkinson disease autosomal recessive, early onset|PRKN young-onset Parkinson disease|autosomal recessive juvenile Parkinson disease 2|Parkinson disease 2|Parkinsonism, early-onset, with diurnal fluctuation|young-onset Parkinson disease caused by mutation in PRKN|Parkinsonism, early onset, with diurnal fluctuation|Parkinson disease 2, autosomal recessive juvenile|autosomal recessive juvenile Parkinson disease type 2 Orphanet:2828|GARD:0009642|DOID:0060368|OMIM:600116|MESH:D020734|UMLS:C1868675 owl:Class UBERON:0002337 biolink:NamedThing endometrial stroma tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005217 biolink:NamedThing midbrain subarachnoid space tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002365 biolink:NamedThing kidney hemangiopericytoma A hemangiopericytoma arising from the kidney. tmpte7i6ely_mondo_relaxed.owl kidney spindle cell tumor|renal hemangiopericytoma|hemangiopericytoma of the kidney|kidney hemangiopericytoma|hemangiopericytoma of kidney UMLS:C0346256|DOID:262|NCIT:C4527|SCTID:254923001 owl:Class MONDO:0001017 biolink:NamedThing epididymal adenocarcinoma A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. tmpte7i6ely_mondo_relaxed.owl adenocarcinoma of the epididymis|epididymis adenocarcinoma|epididymal adenocarcinoma NCIT:C39957|DOID:10368|UMLS:C1510784 owl:Class HGNC:11114 biolink:NamedThing KDM5C tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016528 biolink:NamedThing white matter of frontal lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013152 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 14 tmpte7i6ely_mondo_relaxed.owl SLEB14|systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 owl:Class UBERON:0034936 biolink:NamedThing pars plana of ciliary body tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0012001 biolink:NamedThing neuron of the forebrain A CNS neuron of the forebrain. tmpte7i6ely_mondo_relaxed.owl forebrain neuron tberardini cell owl:Class MONDO:0010926 biolink:NamedThing familial hypocalciuric hypercalcemia 3 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. tmpte7i6ely_mondo_relaxed.owl familial hypocalciuric hypercalcemia type 3|hypocalciuric hypercalcemia, familial, type III|familial benign hypercalcemia, type 3|familial hypocalciuric hypercalcemia caused by mutation in AP2S1|FBH3|hypocalciuric hypercalcemia, familial, type 3|hypercalcemia, familial benign, Oklahoma type|FHH type 3|HHC3|familial benign hypercalcemia, Oklahoma variant|hypercalcemia, familial benign, type 3|FBHOk|hypocalciuric hypercalcemia type III|AP2S1 familial hypocalciuric hypercalcemia UMLS:C1833372|ICD10:E83.5|GARD:0002878|Orphanet:101050|DOID:0060702|Orphanet:405|MESH:C537147|OMIM:600740 owl:Class HGNC:565 biolink:NamedThing AP2S1 tmpte7i6ely_mondo_relaxed.owl owl:Class Nd9c4ed20629a40f1ade103c9aeb052c4 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016734 biolink:NamedThing anaplastic ganglioglioma A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl AGNG GARD:0010639|UMLS:C0431112|ONCOTREE:AGNG|Orphanet:251957|ICDO:9505/3|NCIT:C4717 https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma owl:Class MONDO:0009968 biolink:NamedThing renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss tmpte7i6ely_mondo_relaxed.owl AR dRTA with hearing loss|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, distal, with progressive nerve deafness|distal renal tubular acidosis co-occurrent with sensorineural deafness|renal tubular acidosis with deafness|AR dRTA wth deafness|autosomal recessive distal renal tubular acidosis with deafness|autosomal recessive distal renal tubular acidosis with hearing loss|renal tubular acidosis progressive nerve deafness|RTA with progressive nerve deafness|renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss|renal tubular acidosis type 1b UMLS:C4302514|MESH:C562897|UMLS:C0403554|SCTID:236532003|Orphanet:93611|Orphanet:402041|ICD9:588.89|GARD:0004666|OMIM:267300|SCTID:722468005|ICD9:389.8|Orphanet:18 owl:Class MONDO:0018765 biolink:NamedThing cryptogenic multifocal ulcerous stenosing enteritis tmpte7i6ely_mondo_relaxed.owl CMUSE UMLS:C4302263|SCTID:722849002|Orphanet:468635 owl:Class UBERON:0004871 biolink:NamedThing somatic layer of lateral plate mesoderm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009310 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. tmpte7i6ely_mondo_relaxed.owl granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|CGD, autosomal recessive cytochrome B-positive, type 2|granulomatous disease, chronic, due to Ncf2 deficiency|CDG2|neutrophil cytosol Factor 2, deficiency of|chronic granulomatous disease caused by mutation in NCF2|Ncf2, deficiency of|NCF2 chronic granulomatous disease|P67-PHOX, deficiency of OMIM:233710|Orphanet:379|MESH:C565531|DOID:0070191|UMLS:C1856245 owl:Class OBO:MFOMD_0000109 biolink:NamedThing obsession An intrusive and repetitive thought or image that produce anxiety. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016510 biolink:NamedThing epibulbar lipodermoid-preauricular appendage-polythelia syndrome Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. tmpte7i6ely_mondo_relaxed.owl Orphanet:231742|UMLS:CN226948 owl:Class CL:0002557 biolink:NamedThing fibroblast of pulmonary artery A fibroblast of pulmonary artery. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-02-28T05:22:27Z cell owl:Class N09ce6c4616424a1b88a4f1f4c16a86b6 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ENVO:01000755 biolink:NamedThing aeroform A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes. tmpte7i6ely_mondo_relaxed.owl owl:Class Nf2d9dfdc73d64324994269edb4766e3e biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009394 biolink:NamedThing juvenile Paget disease Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl Paget disease of bone 5, juvenile-onset|familial osteoectasia|juvenile Pagets disease|hyperostosis corticalis deformans juvenilis|hyperostosid corticalis deformans juvenilis|juvenile Paget's disease|hyperphosphatasia, familial idiopathic|juvenile Paget disease|JPD|familial hyperphosphatasia|JPG|hyperphosphatasemia, chronic congenital idiopathic|osteoectasia, familial|Paget disease juvenile type|PDB5|hereditary hyperphosphatasia Orphanet:2801|NCIT:C131861|ICD10:M88.0|ICD10:M88.8|GARD:0002831|ICD10:M88.9|OMIM:239000|SCTID:9723006|MESH:C537701 https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease owl:Class MONDO:0005796 biolink:NamedThing HIV enteropathy A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155) tmpte7i6ely_mondo_relaxed.owl UMLS:C0282616|MESH:D019053|EFO:0007311 owl:Class ECTO:0000776 biolink:NamedThing exposure to signalling molecule An exposure to signalling molecule. tmpte7i6ely_mondo_relaxed.owl exposure to signalling molecule owl:Class HGNC:2509 biolink:NamedThing CTNNA1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29456 biolink:NamedThing TOR1AIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019132 biolink:NamedThing spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:G12.8|UMLS:CN205656|Orphanet:73245 owl:Class GO:0005575 biolink:NamedThing cellular_component A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). tmpte7i6ely_mondo_relaxed.owl cellular component|subcellular entity|cell or subcellular entity owl:Class MONDO:0011136 biolink:NamedThing Quebec platelet disorder Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. tmpte7i6ely_mondo_relaxed.owl QPD|BDPLT5|factor 5 Quebec|factor V Quebec|Quebec platelet disorder|bleeding disorder, platelet-type, 5|platelet-type bleeding disorder 5 Orphanet:220436|DOID:0111050|MESH:C536260|UMLS:C1866423|ICD10:D69.1|GARD:0008345|OMIM:601709 https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder owl:Class MONDO:0044033 biolink:NamedThing posterior leukoencephalopathy syndrome An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. tmpte7i6ely_mondo_relaxed.owl reversible occipital parietal encephalopathy|Posterior reversible encephalopathy syndrome|PRES|reversible Posterior leukoencephalopathy syndrome|reversible Posterior cerebral edema syndrome|leukoencephalopathy syndromes, Posterior|syndrome, Posterior leukoencephalopathy|RPLE|reversible posterior leukoencephalopathy syndrome|syndromes, Posterior leukoencephalopathy|posterior reversible encephalopathy syndrome|leukoencephalopathy syndrome, Posterior NCIT:C78598|SCTID:450886002|MESH:D054038|EFO:1001804 owl:Class HGNC:29105 biolink:NamedThing PLEKHG5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1900075 biolink:NamedThing positive regulation of neuromuscular synaptic transmission Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission. tmpte7i6ely_mondo_relaxed.owl up-regulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|up regulation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission owl:Class MONDO:0013135 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 5 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene. tmpte7i6ely_mondo_relaxed.owl HLH5|FHL5|STXBP2 genetic hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2|familial hemophagocytic lymphohistiocytosis type 5|hemophagocytic lymphohistiocytosis, familial, type 5|HPLH5|hemophagocytic lymphohistiocytosis, familial, 5 OMIM:613101|DOID:0110925|Orphanet:540|MESH:C567752|UMLS:C2751293 owl:Class HGNC:11445 biolink:NamedThing STXBP2 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q3 biolink:NamedThing 5q3 (Human) tmpte7i6ely_mondo_relaxed.owl 181538259 131200000 hg38 owl:Class HGNC:8783 biolink:NamedThing PDE4D tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0009035 biolink:NamedThing stromal cell of lamina propria of vermiform appendix A stromal cell found in the lamina propria of the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl stromal cell of appendix lamina propria|stromal cell of lamina propria of appendix vermiformis owl:Class UBERON:0006218 biolink:NamedThing common atrial chamber tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004253 biolink:NamedThing skin muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009891 biolink:NamedThing acquired polycythemia vera Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. tmpte7i6ely_mondo_relaxed.owl Osler-Vaquez disease|PRV|acquired primary erythrocytosis|primary polycythemia|proliferative polycythaemia|polycythemia vera|PV|polycythaemia rubra vera|Vaquez disease|polycythemia rubra vera|Osler-Vaquez syndrome UMLS:C0032463|ONCOTREE:PV|EFO:0002429|DOID:8997|ICD9:238.4|ICD10:D45|OMIM:263300|GARD:0007422|MESH:D011087|Orphanet:729|ICDO:9950/3|NCIT:C3336|MedDRA:10036057 owl:Class UBERON:0011745 biolink:NamedThing pulmonary valve leaflets tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011350 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 17 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 17|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|deafness, autosomal dominant 17|late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|cochleosaccular degeneration|autosomal dominant nonsyndromic deafness 17|DFNA17|MYH9 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 17|deafness, autosomal dominant nonsyndromic sensorineural 17|autosomal dominant nonsyndromic deafness type 17|nonsyndromic hereditary deafness DFNA17 DOID:0110548|OMIM:603622|ICD10:H90.3|GARD:0009726 owl:Class NCBITaxon:39824 biolink:NamedThing Klebsiella granulomatis tmpte7i6ely_mondo_relaxed.owl Donovania granulomatis|Encapsulatus inguinalis|Calymmatobacterium granulomatis PMID:10555350|GC_ID:11 ncbi_taxonomy owl:Class HGNC:15465 biolink:NamedThing GPHN tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004348 biolink:NamedThing glucosylceramidase activity Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. tmpte7i6ely_mondo_relaxed.owl glucosylsphingosine beta-glucosidase activity|glucosylsphingosine beta-D-glucosidase activity|glucosphingosine glucosylhydrolase activity|beta-D-glucocerebrosidase activity|D-glucosyl-N-acylsphingosine glucohydrolase activity|beta-glucocerebrosidase activity|GlcCer-beta-glucosidase activity|ceramide glucosidase activity|glucosylcerebrosidase activity|acid beta-glucosidase activity|beta-glucosylceramidase activity|glucocerebrosidase activity|psychosine hydrolase activity owl:Class CL:1001517 biolink:NamedThing stomach enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach. tmpte7i6ely_mondo_relaxed.owl cl owl:Class UBERON:0005991 biolink:NamedThing aortic valve anulus tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0000499 biolink:NamedThing decreased duration A duration quality of a process which is relatively low. tmpte7i6ely_mondo_relaxed.owl decreased time|low period|decreased period|shortened period|fast time owl:Class MONDO:0010500 biolink:NamedThing intellectual disability, X-linked, syndromic 33 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, syndromic type 33|TAF1 X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic 33|intellectual disability, X-linked, syndromic type 33|MRXS33|mental retardation, X-linked, syndromic 33|X-linked syndromic intellectual disability caused by mutation in TAF1 OMIM:300966|UMLS:C4225418 owl:Class HGNC:11535 biolink:NamedThing TAF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2705 biolink:NamedThing DCN tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29659 biolink:NamedThing MESP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044626 biolink:NamedThing female infertility due to oocyte meiotic arrest tmpte7i6ely_mondo_relaxed.owl Orphanet:488191 owl:Class CL:1001597 biolink:NamedThing seminal vesicle glandular cell Glandular cell of seminal vesicle epithelium. tmpte7i6ely_mondo_relaxed.owl seminal vesicle glandular cells CALOHA:TS-1283 owl:Class HP:0001159 biolink:NamedThing Syndactyly Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". tmpte7i6ely_mondo_relaxed.owl Webbed fingers or toes Fyler:4174|UMLS:C0039075|MSH:D013576|SNOMEDCT_US:373413006 Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. HP:0001206|HP:0001236 human_phenotype owl:Class MONDO:0012017 biolink:NamedThing Parkes Weber syndrome Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb. tmpte7i6ely_mondo_relaxed.owl Parkes Weber syndrome|PARKES WEBER syndrome|PKWS|Pkws ICD9:759.6|OMIM:608355|UMLS:CN074207|ICD10:Q87.2|SCTID:234143003|Orphanet:90307|UMLS:CN206396|GARD:0009787|Orphanet:2346 https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome owl:Class GO:0002574 biolink:NamedThing thrombocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20670 biolink:NamedThing TWIST2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014418 biolink:NamedThing myopathy, centronuclear, 5 Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive centronuclear myopathy caused by mutation in SPEG|SPEG autosomal recessive centronuclear myopathy|myopathy, centronuclear, type 5|CNM5|myopathy, centronuclear, 5 DOID:0111222|Orphanet:169186|UMLS:C4014814|OMIM:615959 owl:Class HGNC:16901 biolink:NamedThing SPEG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012709 biolink:NamedThing microphthalmia, isolated, with coloboma 5 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. tmpte7i6ely_mondo_relaxed.owl SHH microphthalmia, isolated, with coloboma|Shh microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 5|microphthalmia, isolated, with coloboma caused by mutation in SHH|MCOPCB5|microphthalmia, isolated, with coloboma caused by mutation in Shh|microphthalmia, isolated, with coloboma type 5 Orphanet:98938|UMLS:C1968843|MESH:C566899|OMIM:611638 owl:Class N055589a5fca34d9bb563a597f0ed1d12 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl CL:0007002 biolink:NamedThing precementoblast Skeletogenic cell that has the potential to develop into a cementoblast. tmpte7i6ely_mondo_relaxed.owl haendel 2012-06-15T04:37:13Z cell owl:Class HGNC:24488 biolink:NamedThing POC1A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002275 biolink:NamedThing reticular formation tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001573 biolink:NamedThing nasopharyngeal epithelial cell Cell of the nasopharyngeal epithelium. tmpte7i6ely_mondo_relaxed.owl nasopharynx respiratory epithelial cells CALOHA:TS-2398 owl:Class NCBITaxon:29461 biolink:NamedThing Brucella suis tmpte7i6ely_mondo_relaxed.owl Brucella melitensis biovar Suis|Brucella melitensis bv. Suis GC_ID:11 ncbi_taxonomy owl:Class MONDO:0008954 biolink:NamedThing peroxisome biogenesis disorder 2A (Zellweger) tmpte7i6ely_mondo_relaxed.owl PBD2A|peroxisome biogenesis disorder, complementation group 2|peroxisome biogenesis disorder 2A (Zellweger) UMLS:C3550273|OMIM:214110|Orphanet:912|DOID:0080477 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:17412 biolink:NamedThing CLCF1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008780 biolink:NamedThing inner cell mass derived epiblast tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020525 biolink:NamedThing transient neonatal diabetes mellitus Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. tmpte7i6ely_mondo_relaxed.owl TNDM|transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal|chromosome 6-associated transient diabetes mellitus|transient neonatal diabetes mellitus|diabetes mellitus, 6q24-related transient neonatal transient neonatal diabetes mellitus (disease) OMIM:610374|SCTID:237603002|HP:0008255|ICD10:P70.2|Orphanet:99886|NCIT:C114899|OMIM:610582|DOID:0060334|OMIM:601410|GARD:0001839 owl:Class UBERON:0001579 biolink:NamedThing olfactory nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18674 biolink:NamedThing DDX41 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004840 biolink:NamedThing non-congenital cyst of kidney tmpte7i6ely_mondo_relaxed.owl SCTID:105999006|ICD9:593.2|ICD10:N28.1|DOID:9621|UMLS:C0268799 owl:Class UBERON:0004849 biolink:NamedThing respiratory system venous endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044627 biolink:NamedThing acute macular neuroretinopathy tmpte7i6ely_mondo_relaxed.owl AMNR Orphanet:488239 owl:Class MONDO:0033364 biolink:NamedThing developmental and epileptic encephalopathy, 55 tmpte7i6ely_mondo_relaxed.owl infantile epileptic encephalopathy 55|glycosylphosphatidylinositol biosynthesis defect 14|DEE55|EIEE55|epileptic encephalopathy, early infantile, 55 Orphanet:1934|OMIM:617599|DOID:0080283 owl:Class HGNC:3046 biolink:NamedThing PIGP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008783 biolink:NamedThing dorsal venous arch tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2079 biolink:NamedThing CLN8 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26113 biolink:NamedThing TCTN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012012 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate C Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease caused by mutation in YARS|DI-CMTC|Di-Cmtc|CMTDIC|Charcot-Marie-Tooth neuropathy dominant intermediate C|Charcot-Marie-Tooth neuropathy, dominant Intermediate C|YARS Charcot-Marie-Tooth disease|autosomal dominant intermediate Charcot-Marie-Tooth disease type C|YARS-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, dominant intermediate C|Charcot-Marie-Tooth disease dominant intermediate type C|Charcot-Marie-Tooth disease, dominant Intermediate type C DOID:0110199|UMLS:C1842237|GARD:0012439|ICD10:G60.0|OMIM:608323|SCTID:765746008|MESH:C564257|Orphanet:100045 owl:Class HP:0002257 biolink:NamedThing Chronic rhinitis Chronic inflammation of the nasal mucosa. tmpte7i6ely_mondo_relaxed.owl UMLS:C0008711|SNOMEDCT_US:86094006 human_phenotype owl:Class GO:0060973 biolink:NamedThing cell migration involved in heart development The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0006517 biolink:NamedThing Intraalveolar phospholipid accumulation Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. tmpte7i6ely_mondo_relaxed.owl Detection of PAS-positive extracellular material in broncho-alveolar lavage|Alveolar proteinosis|Pulmonary alveolar proteinosis SNOMEDCT_US:10501004|UMLS:C0034050|MSH:D011649 The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). HP:0032982 human_phenotype owl:Class MONDO:0013687 biolink:NamedThing autosomal recessive spinocerebellar ataxia 12 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 12|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|spinocerebellar ataxia with intellectual disability and epilepsy|autosomal recessive spinocerebellar ataxia 12|WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|spinocerebellar ataxia with mental retardation and epilepsy|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency|SCAR12|autosomal recessive spinocerebellar ataxia type 12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|spinocerebellar ataxia, autosomal recessive type 12 Orphanet:284282|OMIM:614322|ICD10:G11.1|DOID:0080060|UMLS:C3280452 owl:Class HGNC:12799 biolink:NamedThing WWOX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010198 biolink:NamedThing Wernicke-Korsakoff syndrome Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. tmpte7i6ely_mondo_relaxed.owl Korsakoff's psychosis|Korsakoff syndrome|Korsakov psychosis|Korsakoff's syndrome|transketolase defect|Korsakov's psychosis|alcohol-induced encephalopathy|Wernicke encephalopathy|Wernicke-Korsakoff syndrome MESH:C538669|MedDRA:10047913|OMIM:277730|SCTID:69482004|GARD:0006843|EFO:1001242|DOID:10915|NCIT:C35764 Editor note: todo check https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome owl:Class UBERON:0004887 biolink:NamedThing left lung hilus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003848 biolink:NamedThing gonadal vein tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011960 biolink:NamedThing articular capsule of glenohumeral joint tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5227 biolink:NamedThing HSF4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011232 biolink:NamedThing migraine, familial hemiplegic, 2 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene. tmpte7i6ely_mondo_relaxed.owl migraine, familial basilar|FHM2|ATP1A2 familial or sporadic hemiplegic migraine|familial hemiplegic migraine type 2|migraine, familial hemiplegic, type 2|migraine, familial hemiplegic, 2|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|Mhp2|hemiplegic migraine, familial type 2 DOID:0111182|UMLS:C1865322|GARD:0010095|Orphanet:569|OMIM:602481 owl:Class SO:0000055 biolink:NamedThing hyperploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as extra chromosomes are present. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011475 biolink:NamedThing Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|Charcot-Marie-Tooth disease, type 4B2|SBF2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy, type 4B2|CMT4B2|Charcot-Marie-Tooth disease type 4B2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|Charcot-Marie-Tooth neuropathy type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2|Charcot Marie Tooth disease type 4B2|CMT 4B2|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 Orphanet:99956|GARD:0009200|MESH:C535421|DOID:0110190|SCTID:715800000|OMIM:604563|ICD10:G60.0|UMLS:C1858278 https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 owl:Class HGNC:2135 biolink:NamedThing SBF2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005249 biolink:NamedThing metanephric renal pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005026 biolink:NamedThing mucosa of middle ear tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:30262 biolink:NamedThing PYCR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008925 biolink:NamedThing cataract 46 juvenile-onset Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene. tmpte7i6ely_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in LEMD2|juvenilae cataract Hutterite type|CTRCT46|cataract, juvenile, Hutterite type|cataract, congenital or juvenile|cataract Hutterite type|cataract 46, juvenile-onset|LEMD2 early-onset non-syndromic cataract ICD10:Q12.0|DOID:0110243|OMIM:212500|MESH:C538286|GARD:0001150|Orphanet:91492|Orphanet:98987 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type owl:Class MONDO:0012480 biolink:NamedThing diabetes mellitus, transient neonatal, 2 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene. tmpte7i6ely_mondo_relaxed.owl Tndm2|diabetes mellitus, transient neonatal, type 2|transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|diabetes mellitus, transient neonatal, 2|ABCC8 transient neonatal diabetes mellitus (disease) OMIM:610374|MESH:C563672|UMLS:C1835887|SCTID:609580007|Orphanet:99886 owl:Class MONDO:0011304 biolink:NamedThing cerebral cavernous malformation 2 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene. tmpte7i6ely_mondo_relaxed.owl cerebral cavernous malformation 2|CCM2|cerebral cavernous malformations 2|CCM2 familial cerebral cavernous malformation|familial cerebral cavernous malformation caused by mutation in CCM2|cerebral cavernous malformations type 2|cerebral cavernous malformation type 2 OMIM:603284|ICD10:Q28.3|Orphanet:221061|UMLS:C1864041|DOID:0060670|MESH:C566394 owl:Class MONDO:0010288 biolink:NamedThing adrenomyodystrophy Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl adrenomyodystrophy OMIM:300270|Orphanet:977|UMLS:C1846044|MESH:C538051|SCTID:763311001|GARD:0000562 owl:Class GO:0060786 biolink:NamedThing regulation of cell differentiation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12830 biolink:NamedThing XRCC3 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002097 biolink:NamedThing cortical cell of adrenal gland A cell of the adrenal cortex. Cell types include those that synthesize and secrete chemical derivatives (steroids) of cholesterol. tmpte7i6ely_mondo_relaxed.owl adrenocortical cell|adrenal cortex cell FMA:69545 tmeehan 2010-08-24T01:37:44Z cell owl:Class N1fbcc3b3c103457188236680c561b59d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011137 biolink:NamedThing retinitis pigmentosa 19 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in ABCA4|RP19|ABCA4 retinitis pigmentosa|retinitis pigmentosa 19|retinitis pigmentosa type 19|RP 19 GARD:0010398|OMIM:601718|Orphanet:791|DOID:0110354|UMLS:C1866422|MESH:C566637|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19 owl:Class MONDO:0008025 biolink:NamedThing neuronopathy, distal hereditary motor, type 2A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. tmpte7i6ely_mondo_relaxed.owl HMN 2A|neuropathy, distal hereditary motor, type 2A|neuronopathy, distal hereditary motor caused by mutation in HSPB8|HSPB8 neuronopathy, distal hereditary motor|Charcot-Marie-Tooth disease, spinal, 2A|spinal muscular atrophy, distal, adult, autosomal dominant, 2A|neuronopathy, distal hereditary motor, type IIA|HMN2A Orphanet:139525|MESH:C563561|DOID:0111208|OMIM:158590|UMLS:C1834692 owl:Class HGNC:11608 biolink:NamedThing TBXA2R tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016209 biolink:NamedThing antioxidant activity Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0098869 biolink:NamedThing cellular oxidant detoxification Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008005 biolink:NamedThing cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. tmpte7i6ely_mondo_relaxed.owl Forney Robinson Pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|Forney syndrome|cardiospondylocarpofacial syndrome|congenital heart disease, deafness, and skeletal malformations|CSCF|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones|Forney-Robinson-Pascoe syndrome GARD:0002362|Orphanet:3238|UMLS:CN204053|OMIM:157800|MESH:C563572|SCTID:720612000 owl:Class HP:0000518 biolink:NamedThing Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. tmpte7i6ely_mondo_relaxed.owl Lens opacity|Lens opacities|Clouding of the lens of the eye|Cataracts|Cloudy lens SNOMEDCT_US:247053007|UMLS:C0086543|UMLS:C1510497|MSH:D002386|Fyler:4865|SNOMEDCT_US:193570009|SNOMEDCT_US:128306009 Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). HP:0007825|HP:0010700|HP:0001113 human_phenotype owl:Class HP:0100502 biolink:NamedThing Vitamin B12 deficiency tmpte7i6ely_mondo_relaxed.owl Vitamin B12 deficiency SNOMEDCT_US:190634004|MSH:D014806|UMLS:C0042847 doelkens 2010-12-17T06:00:43Z human_phenotype owl:Class UBERON:0001746 biolink:NamedThing capsule of thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014797 biolink:NamedThing lymphatic malformation 6 tmpte7i6ely_mondo_relaxed.owl lymphedema, hereditary, III|LMPH3|lymphedema, hereditary, 3|generalized lymphatic dysplasia of Fotiou|lymphedema, hereditary, type III OMIM:616843|UMLS:C4225184|EFO:0009153 owl:Class MONDO:0004621 biolink:NamedThing upper lip cancer A malignant neoplasm involving the upper lip. tmpte7i6ely_mondo_relaxed.owl malignant upper lip neoplasm|cancer of upper lip|malignant neoplasm of upper lip|upper lip cancer ICD9:140.3|ICD10:C00.3|ICD9:140.0|DOID:8630|ICD10:C00.0 owl:Class HGNC:29514 biolink:NamedThing GLDN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016653 biolink:NamedThing 2q33.1 microdeletion syndrome 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. tmpte7i6ely_mondo_relaxed.owl Del(2)(q33.1)|monosomy 2q33.1 ICD10:Q93.5|Orphanet:251028|SCTID:763062006|UMLS:CN201882 owl:Class OBO:CHR_9606-chr2q33.1 biolink:NamedThing 2q33.1 (Human) tmpte7i6ely_mondo_relaxed.owl 202500000 196600000 hg38 owl:Class UBERON:0009631 biolink:NamedThing root of lumbar spinal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003483 biolink:NamedThing thymus lymphoid tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002437 biolink:NamedThing dehydration polycythemia Polycythemia resulting from dehydration. tmpte7i6ely_mondo_relaxed.owl DOID:2833|UMLS:C0856815|NCIT:C27310 owl:Class UBERON:0015482 biolink:NamedThing right hepatic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009029 biolink:NamedThing cranial nerves, congenital paresis of tmpte7i6ely_mondo_relaxed.owl cranial nerves, congenital paresis of UMLS:C1857531|OMIM:218100|MESH:C565673 owl:Class UBERON:0004668 biolink:NamedThing fourth ventricle aperture tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0010002 biolink:NamedThing epithelial cell of umbilical artery An epithelial cell that is part_of a umbilical artery. tmpte7i6ely_mondo_relaxed.owl umbilical artery epithelial cell GOC:cjm owl:Class HP:0005132 biolink:NamedThing Pericardial constriction Compression of the heart caused by rigid, thickened, or fused pericardial membranes. tmpte7i6ely_mondo_relaxed.owl UMLS:C0240709 human_phenotype owl:Class HGNC:8104 biolink:NamedThing OCLN tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11p15.4 biolink:NamedThing 11p15.4 (Human) tmpte7i6ely_mondo_relaxed.owl 11700000 2800000 hg38 owl:Class MONDO:0017994 biolink:NamedThing severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency tmpte7i6ely_mondo_relaxed.owl ICD10:E66.8|Orphanet:329249|UMLS:CN204200 owl:Class HGNC:30417 biolink:NamedThing SH2B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014386 biolink:NamedThing platelet-type bleeding disorder 18 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. tmpte7i6ely_mondo_relaxed.owl RASGRP2 inherited bleeding disorder, platelet-type|bleeding disorder due to CalDAG-GEFI deficiency|bleeding disorder, platelet-type, 18|inherited bleeding disorder, platelet-type caused by mutation in RASGRP2|BDPLT18|platelet-type bleeding disorder 18|bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency OMIM:615888|UMLS:C4014584|ICD10:D69.1|DOID:0111051|Orphanet:420566 owl:Class HGNC:1482 biolink:NamedThing CAPN5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013093 biolink:NamedThing glioma susceptibility 3 Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. tmpte7i6ely_mondo_relaxed.owl GLM3|BRCA2 malignant glioma|malignant glioma caused by mutation in BRCA2|glioma susceptibility 3|glioma susceptibility type 3 Orphanet:360|Orphanet:182067|OMIM:613029 owl:Class UBERON:0002461 biolink:NamedThing anterior abdominal wall muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013265 biolink:NamedThing autism, susceptibility to, 17 tmpte7i6ely_mondo_relaxed.owl susceptibility to autism 17|AUTS17|autism, susceptibility to, type 17|autism, susceptibility to, 17 OMIM:613436 owl:Class MONDO:0014120 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tmpte7i6ely_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related|MDDGA13 UMLS:C3809042|DOID:0111238|Orphanet:899|OMIM:615287 owl:Class HGNC:15685 biolink:NamedThing B4GAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000622 biolink:NamedThing Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. tmpte7i6ely_mondo_relaxed.owl Blurred vision UMLS:C0344232|SNOMEDCT_US:246636008|SNOMEDCT_US:111516008 This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. HP:0007723 human_phenotype owl:Class HGNC:3233 biolink:NamedThing MEGF8 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0099055 biolink:NamedThing integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013051 biolink:NamedThing autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. tmpte7i6ely_mondo_relaxed.owl autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|cutis laxa, autosomal recessive, type IIB|cutis laxa, autosomal recessive type 2B|ARCL2, progeroid type|cutis laxa, autosomal recessive, type 2B|PYCR1 autosomal recessive cutis laxa type 2|cutis laxa with progeroid features|autosomal recessive cutis laxa type 2, progeroid type|autosomal recessive cutis laxa type 2B|autosomal recessive cutis laxa type IIB|ARCL2B GARD:0001641|ICD10CM:Q82.8|DOID:0070137|OMIM:612940|MESH:C567855|ICD10:Q82.8|UMLS:C2751987|Orphanet:357064 https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b owl:Class UBERON:0010424 biolink:NamedThing distal segment of rib tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8636 biolink:NamedThing PC tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17655 biolink:NamedThing GREM2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007362 biolink:NamedThing cone-rod dystrophy 2 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene. tmpte7i6ely_mondo_relaxed.owl CRX cone-rod dystrophy|cone-rod dystrophy|cone-rod retinal dystrophy 2|CRD2|cone-rod dystrophy 2|cone-rod dystrophy caused by mutation in CRX|cone-rod retinal dystrophy|retinal cone-rod dystrophy 2|retinal cone-rod dystrophy|cone-rod dystrophy type 2|RCRD2|CORD2 ICD9:362.75|GARD:0006145|UMLS:CN074280|DOID:0111005|SCTID:80328002|OMIM:120970|Orphanet:1872|UMLS:C0035334 owl:Class HGNC:2383 biolink:NamedThing CRX tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012878 biolink:NamedThing Cowden syndrome 2 Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene. tmpte7i6ely_mondo_relaxed.owl Cowden disease caused by mutation in SDHB|SDHB Cowden disease|Cowden syndrome 2|Cowden syndrome type 2|CWS2 UMLS:C3552552|Orphanet:201|MESH:C567337|OMIM:612359 owl:Class HGNC:10681 biolink:NamedThing SDHB tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12015 biolink:NamedThing TPO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012437 biolink:NamedThing cataract 21 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene. tmpte7i6ely_mondo_relaxed.owl congenital cataract cerulean type 4|CCA4|cataract, congenital, cerulean type, 4|early-onset non-syndromic cataract caused by mutation in MAF|MAF early-onset non-syndromic cataract|cataract 21, multiple types, with or without microcornea|cataract 21 multiple types with or without microcornea|cataract, pulverulent, juvenile-onset|CTRCT21|cataract 21, multiple types ICD10:Q12.0|Orphanet:91492|OMIM:610202|Orphanet:98989|Orphanet:98984|DOID:0110256|MESH:C565703 owl:Class ENVO:01001645 biolink:NamedThing gaseous part of an atmosphere That part of an atmosphere which is composed of gaseous material. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009035 biolink:NamedThing craniometaphyseal dysplasia, autosomal recessive Autosomal recessive form of craniometaphyseal dysplasia. tmpte7i6ely_mondo_relaxed.owl autosomal recessive craniometaphyseal dysplasia|craniometaphyseal dysplasia, autosomal recessive|craniometaphyseal dysplasia, autosomal recessive type|CMDR Orphanet:1522|MESH:C536570|GARD:0001582|OMIM:218400 owl:Class MONDO:0021638 biolink:NamedThing low grade astrocytic tumor A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II). tmpte7i6ely_mondo_relaxed.owl low grade astrocytic tumor|low-grade astrocytic neoplasm|low-grade astrocytic tumor|low grade astrocytic neoplasm UMLS:C3898569|NCIT:C116342 owl:Class MONDO:0019364 biolink:NamedThing pseudotyphus of California Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. tmpte7i6ely_mondo_relaxed.owl SCTID:764104003|Orphanet:83316|ICD10:A79.8 owl:Class UBERON:0003325 biolink:NamedThing mesenchyme of pinna tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012062 biolink:NamedThing dilated cardiomyopathy 1O Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy type 1O|cardiomyopathy, dilated, with ventricular tachycardia|familial isolated dilated cardiomyopathy caused by mutation in ABCC9|cardiomyopathy, dilated, type 1O|cardiomyopathy, dilated, 1O|ABCC9 familial isolated dilated cardiomyopathy|CMD1O|dilated cardiomyopathy with ventricular tachycardia UMLS:C1837839|MESH:C563906|ICD10:I42.0|OMIM:608569|DOID:0110451 owl:Class N8c0e38ee52c44ab69ab8086da06635cd biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:3673 biolink:NamedThing FGF17 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013345 biolink:NamedThing d-2-hydroxyglutaric aciduria 2 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene. tmpte7i6ely_mondo_relaxed.owl d-2-hydroxyglutaric aciduria 2|D-2-hydroxyglutaric aciduria caused by mutation in IDH2|D-2-hydroxyglutaric aciduria type 2|IDH2 D-2-hydroxyglutaric aciduria|D2HGA2|D-2-hydroxyglutaric aciduria 2 UMLS:C3150909|OMIM:613657|Orphanet:79315|DOID:0111352 owl:Class HGNC:5383 biolink:NamedThing IDH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014732 biolink:NamedThing hypomyelinating leukodystrophy 12 Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene. tmpte7i6ely_mondo_relaxed.owl VPS11 leukodystrophy|leukodystrophy, hypomyelinating, type 12|VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|leukodystrophy, hypomyelinating, 12|HLD12|VPS11-related autosomal recessive hypomyelinating leukodystrophy|leukodystrophy caused by mutation in VPS11|hypomyelinating leukodystrophy type 12 UMLS:C4225247|DOID:0060796|OMIM:616683|Orphanet:466934 owl:Class HGNC:14583 biolink:NamedThing VPS11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005978 biolink:NamedThing theileriasis Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. tmpte7i6ely_mondo_relaxed.owl infection by Theileria|theileriosis UMLS:C0039753|ICD9:136.8|MESH:D013801|SCTID:68771000|EFO:0007506|DOID:3733 owl:Class NCBITaxon:5873 biolink:NamedThing Theileria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:17646 biolink:NamedThing NGLY1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:12475 biolink:NamedThing Hepatitis delta virus tmpte7i6ely_mondo_relaxed.owl HDV|hepatitis delta virus HDV|Hepatitis D virus GC_ID:1 NCBITaxon:12682 ncbi_taxonomy owl:Class MONDO:0008016 biolink:NamedThing trismus-pseudocamptodactyly syndrome tmpte7i6ely_mondo_relaxed.owl Dutch-Kentucky syndrome|DA7|arthrogryposis distal type 7|Hecht syndrome|distal arthrogryposis type 7|arthrogryposis, distal, type 7|trismus-pseudocamptodactyly syndrome|Hecht-Beals syndrome|mouth, inability to open completely, and short finger-flexor tendons OMIM:158300|Orphanet:3377|SCTID:8757006|ICD10:Q68.8|GARD:0002621|MESH:C535857|ICD9:759.89|UMLS:C0265226 owl:Class HGNC:7578 biolink:NamedThing MYH8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014406 biolink:NamedThing pancreatic agenesis 2 Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene. tmpte7i6ely_mondo_relaxed.owl pancreatic agenesis 2|pancreatic agenesis caused by mutation in PTF1A|pancreatic hypoplasia, congenital 2|PTF1A pancreatic agenesis|pancreatic agenesis type 2|PAGEN2 UMLS:C4014737|Orphanet:2805|OMIM:615935 owl:Class HGNC:3356 biolink:NamedThing ENPP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008176 biolink:NamedThing Paget disease of bone 3 tmpte7i6ely_mondo_relaxed.owl Paget disease of bone 3|Paget disease of bone type 3|Paget disease of bone, familial|familial Paget disease of bone|PDB3 UMLS:C4085252|GARD:0004191|OMIM:167250 owl:Class UBERON:0005626 biolink:NamedThing ventral mesogastrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013613 biolink:NamedThing Leber congenital amaurosis 16 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene. tmpte7i6ely_mondo_relaxed.owl Leber congenital amaurosis 16|Leber congenital amaurosis caused by mutation in KCNJ13|LCA16|Leber congenital amaurosis type 16|KCNJ13 Leber congenital amaurosis ICD10:H35.5|GARD:0010885|OMIM:614186|DOID:0110118|UMLS:C3280062|Orphanet:65 https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16 owl:Class HsapDv:0000204 biolink:NamedThing mature stage Human developmental stage that refers to a sexually mature human. tmpte7i6ely_mondo_relaxed.owl owl:Class N9db535d634f84b5a945e9f8fd4bec434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012701 biolink:NamedThing cataract 12 multiple types A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. tmpte7i6ely_mondo_relaxed.owl CTRCT12|cataract 12, multiple types OMIM:611597|Orphanet:91492|MESH:C566909|ICD10:Q12.0|Orphanet:98992|DOID:0110239 owl:Class MONDO:0013211 biolink:NamedThing dilated cardiomyopathy 1FF A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, type 1Ff|CMD1FF|dilated cardiomyopathy type 1FF|cardiomyopathy, dilated, 1FF DOID:0110459|MESH:C567654|OMIM:613286|UMLS:C2750091|Orphanet:154|ICD10:I42.0 owl:Class HP:0011043 biolink:NamedThing Abnormality of circulating adrenocorticotropin level An abnormal concentration of corticotropin in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating ACTH level UMLS:C4023574 Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. peter 2011-03-10T07:46:59Z human_phenotype owl:Class HGNC:3585 biolink:NamedThing FANCD2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15911 biolink:NamedThing NOP56 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013503 biolink:NamedThing candidiasis, familial, 6 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene. tmpte7i6ely_mondo_relaxed.owl CANDF6|familial chronic mucocutaneous candidiasis caused by mutation in IL17F|candidiasis, familial, 6|candidiasis, familial chronic mucocutaneous, autosomal dominant|IL17F familial chronic mucocutaneous candidiasis|candidiasis, familial, type 6 OMIM:613956|UMLS:C3151405 owl:Class HGNC:16404 biolink:NamedThing IL17F tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905039 biolink:NamedThing carboxylic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26262 biolink:NamedThing TTI2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:989 biolink:NamedThing BCL10 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2799 biolink:NamedThing GRHL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007336 biolink:NamedThing isolated cleft palate A cleft palate that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl cleft palate|isolated cleft palate|nonsyndromic cleft palate|cleft palate, isolated|dominant cleft palate|CPI ICD10:Q35.1|UMLS:CN234898|ICD10:Q35.5|DOID:0110213|Orphanet:2014|ICD10:Q35.3|GARD:0001896|ICD10:Q35.9|OMIM:119540|ICD10:Q35.7 https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate owl:Class UBERON:0003707 biolink:NamedThing sinus of Valsalva tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005956 biolink:NamedThing septicemic plague A plague in which the bacteria have entered the bloodstream. tmpte7i6ely_mondo_relaxed.owl UMLS:C0152936|SCTID:9012003|DOID:3481|ICD10:A20.7|ICD9:020.2|EFO:0007481|MESH:D010930 owl:Class MONDO:0032852 biolink:NamedThing myopathy, congenital, with structured cores and z-line abnormalities tmpte7i6ely_mondo_relaxed.owl Multiple Structured Core Disease|MYOCOZ|MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES OMIM:618654 owl:Class UBERON:0007144 biolink:NamedThing embryonic post-anal tail tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17994 biolink:NamedThing TRPM7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013711 biolink:NamedThing peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome tmpte7i6ely_mondo_relaxed.owl peripheral neuropathy, myopathy, hoarseness, and hearing loss|PNMHH|peripheral neuropathy-myopathy-hoarseness-deafness syndrome Orphanet:397744|ICD10:G60.0|OMIM:614369|UMLS:C3280556 owl:Class MONDO:0011620 biolink:NamedThing metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. tmpte7i6ely_mondo_relaxed.owl metaphyseal dysplasia, Braun-Tinschert type SCTID:717221005|Orphanet:85188|ICD10:Q78.5|MESH:C565271|OMIM:605946|UMLS:C1853825 owl:Class HGNC:11303 biolink:NamedThing SRP72 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25186 biolink:NamedThing TMEM240 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013879 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 tmpte7i6ely_mondo_relaxed.owl pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|PFBMFT2|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2 UMLS:C3553622|Orphanet:88|OMIM:614743 owl:Class MONDO:0003502 biolink:NamedThing ureter squamous cell carcinoma A rare squamous cell carcinoma that arises from the ureter. tmpte7i6ely_mondo_relaxed.owl squamous cell carcinoma of the ureter|ureter squamous cell carcinoma|ureter epidermoid carcinoma|epidermoid carcinoma of the ureter|ureteral epidermoid carcinoma|ureteral squamous cell carcinoma|epidermoid carcinoma of ureter|squamous cell carcinoma of ureter UMLS:C1336879|NCIT:C6154|DOID:5539 owl:Class HP:0001607 biolink:NamedThing Subglottic stenosis tmpte7i6ely_mondo_relaxed.owl UMLS:C0238441|SNOMEDCT_US:22668006 human_phenotype owl:Class MONDO:0100270 biolink:NamedThing peroxisome biogenesis disorder due to PEX19 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene. tmpte7i6ely_mondo_relaxed.owl PEX19 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX19 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0008115 biolink:NamedThing Feingold syndrome type 1 Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies. tmpte7i6ely_mondo_relaxed.owl oculo-digito-esophageal-duodenal syndrome type 1|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|MMT type 1|ODED syndrome type 1|Mmt syndrome|oculodigitoesophagoduodenal syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|Oded syndrome|FGLDS1|microcephaly and digital abnormalities with normal intelligence|Feingold syndrome|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|FS1|microcephaly-oculo-digito-esophageal-duodenal syndrome|microcephaly-digital anomalies-normal intelligence syndrome type 1|Feingold syndrome 1|MYCN Feingold syndrome|Feingold syndrome type 1|Feingold syndrome caused by mutation in MYCN|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|Brunner-Winter syndrome type 1|MODED syndrome type 1 ICD10:Q87.8|Orphanet:391641|UMLS:CN204984|Orphanet:1305|ICD9:759.89|OMIM:164280|SCTID:702431004 owl:Class HGNC:7559 biolink:NamedThing MYCN tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:24527 biolink:NamedThing herbicide A substance used to destroy plant pests. tmpte7i6ely_mondo_relaxed.owl Herbizid|herbicides|Wildkrautbekaempfungsmittel|Unkrautvertilgungsmittel|Unkrautbekaempfungsmittel owl:Class MONDO:0014914 biolink:NamedThing Dias-Logan syndrome Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene. tmpte7i6ely_mondo_relaxed.owl intellectual developmental disorder with persistence of fetal Hemoglobin|Dias-Logan syndrome; DILOS|BCL11A-related BAFopathy|Dias-Logan syndrome|intellectual developmental disorder with persistence of fetal HEMOGLOBIN|DILOS|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin UMLS:C4310833|OMIM:617101 owl:Class HP:0000966 biolink:NamedThing Hypohidrosis Abnormally diminished capacity to sweat. tmpte7i6ely_mondo_relaxed.owl Sweating, decreased|Decreased sweating|Oligohidrosis|Decreased ability to sweat|Inadequate sweating MSH:D007007|UMLS:C0020620|MEDDRA:10021013|SNOMEDCT_US:45004005 HP:0007551|HP:0007571 human_phenotype owl:Class UBERON:0014639 biolink:NamedThing frontal sulcus tmpte7i6ely_mondo_relaxed.owl owl:Class Ne65158352a424792973bab4bd18969d3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0012489 biolink:NamedThing muscle layer of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010359 biolink:NamedThing Dent disease type 2 Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. tmpte7i6ely_mondo_relaxed.owl OCRL Dent disease|Dent disease type 2|Dent disease caused by mutation in OCRL|nephrolithiasis type 2|DENT disease 2 Orphanet:93623|ICD10:N25.8|OMIM:300555|SCTID:717790004|MESH:C564487|UMLS:C4305529|Orphanet:1652|UMLS:C1845167 owl:Class MONDO:0700032 biolink:NamedThing complete trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class OBO:CHR_9606-chr6q24-q25 biolink:NamedThing 6q24-q25 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0008156 biolink:NamedThing autosomal dominant osteopetrosis 2 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). tmpte7i6ely_mondo_relaxed.owl osteopetrosis, autosomal dominant type 2|Albers-Schönberg osteopetrosis|autosomal dominant osteopetrosis type II|osteopetrosis, autosomal dominant, type 2|marble bones, autosomal dominant|osteopetrosis autosomal dominant type 2|Albers-Schonberg osteopetrosis|autosomal dominant Albers-Schonberg disease|autosomal dominant osteopetrosis type 2|Albers-Schonberg disease, autosomal dominant|OPTA2|osteopetrosis, autosomal dominant 2|osteosclerosis Fragilis generalisata GARD:0000383|UMLS:C3179239|ICD10:Q78.2|DOID:0110938|SCTID:725050005|OMIM:166600|Orphanet:53 owl:Class UBERON:0002060 biolink:NamedThing femoral artery tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20318 biolink:NamedThing SMOC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700123 biolink:NamedThing SMARCC1-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene. tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C25193 biolink:NamedThing Occupation The principal activity that a person does to earn money. tmpte7i6ely_mondo_relaxed.owl Occupation|Job|EMPJOB|Employee Job|OCCUPATION owl:Class MONDO:0044338 biolink:NamedThing autoimmune primary ovarian failure An autoimmune form of primary ovarian failure. tmpte7i6ely_mondo_relaxed.owl primary ovarian failure arising through autoimmunity ICD9:279.49|SCTID:237790001|ICD9:256.39|UMLS:C0342508 owl:Class UBERON:0003229 biolink:NamedThing epithelium of elbow tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6584 biolink:NamedThing LHB tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:37162 biolink:NamedThing Mycobacterium avium complex sp. tmpte7i6ely_mondo_relaxed.owl Mycobacterium avium complex bacterium GC_ID:11 ncbi_taxonomy owl:Class HGNC:14880 biolink:NamedThing GTPBP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012674 biolink:NamedThing age related macular degeneration 10 Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene. tmpte7i6ely_mondo_relaxed.owl macular Degeneration, age-related, type 10|ARMD10|macular degeneration, age-related, 10|TLR4 age-related macular degeneration|age related macular degeneration type 10|age-related macular degeneration caused by mutation in TLR4 UMLS:C1969108|OMIM:611488|MESH:C566935|DOID:0110022 owl:Class MONDO:0014524 biolink:NamedThing intellectual disability, autosomal recessive 47 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene. tmpte7i6ely_mondo_relaxed.owl MRT47|FMN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 47|mental retardation, autosomal recessive type 47|autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2|intellectual disability, autosomal recessive 47|mental retardation, autosomal recessive 47 OMIM:616193|UMLS:C4015444 owl:Class UBERON:0016536 biolink:NamedThing white matter of limbic lobe tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6416 biolink:NamedThing KRT14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010687 biolink:NamedThing nephrolithiasis, X-linked recessive, with renal failure tmpte7i6ely_mondo_relaxed.owl nephrolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|urolithiasis, X-linked recessive, type 1|XRN|nephrolithiasis 1 MESH:C562901|Orphanet:1652|SCTID:236713006|Orphanet:93622|OMIM:310468 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations owl:Class MONDO:0010488 biolink:NamedThing intellectual disability, X-linked 100 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked type 100|mental retardation, X-linked 100|intellectual disability, X-linked type 100|MRX100|intellectual disability, X-linked 100|KIF4A non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in KIF4A OMIM:300923|UMLS:C3890167 owl:Class MONDO:0018115 biolink:NamedThing epidermal nevus syndrome A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities. tmpte7i6ely_mondo_relaxed.owl Epidermal hamartoma syndrome Orphanet:35125|ICD10:Q85.8|MedDRA:10014985|SCTID:239112008 owl:Class MONDO:0022792 biolink:NamedThing coccygodynia Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury. tmpte7i6ely_mondo_relaxed.owl coccydynia GARD:0005168 https://rarediseases.info.nih.gov/diseases/5168/coccygodynia owl:Class NCBITaxon:573 biolink:NamedThing Klebsiella pneumoniae tmpte7i6ely_mondo_relaxed.owl Bacillus pneumoniae|'Klebsiella aerogenes' (Kruse) Taylor et al. 1956|Bacterium pneumoniae crouposae|Klebsiella pneumoniae aerogenes|Hyalococcus pneumoniae PMID:11411715|PMID:1581186|GC_ID:11 NCBITaxon:1096019|NCBITaxon:875801|NCBITaxon:692338|NCBITaxon:1673140|NCBITaxon:585494|NCBITaxon:1795825 ncbi_taxonomy owl:Class MONDO:0012806 biolink:NamedThing ectodermal dysplasia and immunodeficiency 2 tmpte7i6ely_mondo_relaxed.owl EPAID2|ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant OMIM:612132|Orphanet:238468|MESH:C567411|Orphanet:98813|UMLS:C2677481 owl:Class HGNC:7797 biolink:NamedThing NFKBIA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012876 biolink:NamedThing heparin cofactor 2 deficiency tmpte7i6ely_mondo_relaxed.owl Hcf2 deficiency|heparin cofactor II deficiency|Hcf 2 deficiency|thrombophilia due to heparin cofactor 2 deficiency|heparin cofactor 2 deficiency SCTID:234468009|MESH:C562865|ICD9:286.3|UMLS:C0398626|OMIM:612356 owl:Class CL:1000311 biolink:NamedThing adipocyte of epicardial fat of left ventricle A fat cell that is part of the epicardial fat of left ventricle. tmpte7i6ely_mondo_relaxed.owl epicardial fat cell of left ventricle|epicardial adipocyte of left ventricle FMA:261300 cell owl:Class CL:1000493 biolink:NamedThing mesothelial cell of visceral pleura A mesothelial cell that is part of the visceral pleura. tmpte7i6ely_mondo_relaxed.owl FMA:86739 cell owl:Class MONDO:0013834 biolink:NamedThing UV-sensitive syndrome 3 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene. tmpte7i6ely_mondo_relaxed.owl UV-sensitive syndrome 3|UV-sensitive syndrome caused by mutation in UVSSA|UV-sensitive syndrome type 3|UVSSA UV-sensitive syndrome|UVSS3 Orphanet:178338|UMLS:C3553328|OMIM:614640 owl:Class HGNC:29304 biolink:NamedThing UVSSA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024558 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene. tmpte7i6ely_mondo_relaxed.owl radioulnar synostosis with amegakaryocytic thrombocytopenia 1|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|thrombocytopenia, congenital, with radioulnar synostosis|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|RUSAT1|Rusat Orphanet:71289|OMIM:605432 owl:Class HGNC:5101 biolink:NamedThing HOXA11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011978 biolink:NamedThing CoQ-responsive OXPHOS deficiency tmpte7i6ely_mondo_relaxed.owl CoQ-responsive OXPHOS deficiency|CoQ-responsive oxidative phosphorylation disorder UMLS:C1842463|GARD:0010240|OMIM:608158|MESH:C535470 owl:Class Nc77d056a8b5843a5bad4f87330d7f2bd biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:9060 biolink:NamedThing PLCD1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001591 biolink:NamedThing oviduct glandular cell Glandular cell of oviduct epithelium. Example: peg cells, ciliated cells. tmpte7i6ely_mondo_relaxed.owl uterine tube glandular cell|fallopian tube glandular cells|fallopian tube glandular cell CALOHA:TS-1277 owl:Class MONDO:0012318 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, type 1|Clls1|leukemia, chronic lymphocytic, susceptibility to, 1 OMIM:609630|Orphanet:67038 owl:Class UBERON:0004894 biolink:NamedThing alveolar wall tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018321 biolink:NamedThing foramen for glossopharyngeal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012499 biolink:NamedThing Buruli ulcer, susceptibility to tmpte7i6ely_mondo_relaxed.owl BUD|Mycobacterium ulcerans, susceptibility to|Buruli ulcer, susceptibility to GARD:0009520|OMIM:610446 owl:Class HGNC:10907 biolink:NamedThing SLC11A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008479 biolink:NamedThing spondylometaphyseal dysplasia, 'corner fracture' type A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). tmpte7i6ely_mondo_relaxed.owl Sutcliffe type of spondylometaphyseal dysplasia|spondylometaphyseal dysplasia corner fracture type|SMDCF|spondylometaphyseal dysplasia, corner fracture type|spondylometaphyseal dysplasia Sutcliffe type|Sutcliffe SmD|spondylometaphyseal dysplasia, Sutcliffe type GARD:0004991|SCTID:254078005|Orphanet:93315|OMIM:184255|ICD10:Q77.8|UMLS:C0432221|MESH:C535793 https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type owl:Class HGNC:3778 biolink:NamedThing FN1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0008066 biolink:NamedThing Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. tmpte7i6ely_mondo_relaxed.owl Skin bullae|Abnormal blistering of the skin|Blistering, generalised|Blister|Blisters|Skin blisters|Blistering, generalized UMLS:C0241054|UMLS:C2132198|UMLS:C2220104 A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. peter 2008-04-02T03:54:00Z HP:0007496|HP:0200038|HP:0007467 human_phenotype owl:Class MONDO:0008419 biolink:NamedThing scoliosis, isolated, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl adolescent isolated scoliosis|scoliosis, isolated, susceptibility to, 1|adolescent idiopathic scoliosis|IS1 OMIM:181800 owl:Class MONDO:0008913 biolink:NamedThing cardiac valvular defect, developmental tmpte7i6ely_mondo_relaxed.owl CVDD|CARDIAC valvular defect, developmental|cardiac valvular defect, developmental DOID:0080633|UMLS:C1859330|OMIM:212093|MESH:C565882 owl:Class NCBITaxon:480418 biolink:NamedThing Mycobacterium lepromatosis tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:25831531|PMID:19019760 ncbi_taxonomy owl:Class HGNC:16902 biolink:NamedThing BCKDK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013953 biolink:NamedThing immunodeficiency 28 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency 28, Mycobacteriosis|immunodeficiency 28|IMD28|Ifngr2 deficiency|immunodeficiency type 28|IFNGR2 primary immunodeficiency disease|primary immunodeficiency disease caused by mutation in IFNGR2 Orphanet:319574|UMLS:C4013947|Orphanet:319547|OMIM:614889 owl:Class MONDO:0009007 biolink:NamedThing Jalili syndrome Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy with amelogenesis imperfecta|cone-rod dystrophy amelogenesis imperfecta|cone rod dystrophy-amelogenesis imperfecta syndrome|cone-rod dystrophy and amelogenesis imperfecta|Jalili syndrome DOID:0111404|ICD9:520.5|MESH:C000596385|SCTID:707608003|GARD:0001463|Orphanet:1873|ICD10:H35.5|UMLS:CN200616|ICD9:362.75|UMLS:C3495589|OMIM:217080 https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta owl:Class UBERON:0005598 biolink:NamedThing trunk somite tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016392 biolink:NamedThing mastoid lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012383 biolink:NamedThing primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21. tmpte7i6ely_mondo_relaxed.owl IMD54|primary immunodeficiency due to MCM4 deficiency|natural KILLER cell and glucocorticoid deficiency with DNA repair defect|mini-chromosome maintenance 4|natural Killer cell deficiency, familial isolated|NKGCD|immunodeficiency 54 MESH:C566492|NCIT:C123729|UMLS:C1864947|SCTID:724275005|Orphanet:75391|OMIM:609981|ICD10:D84.8 owl:Class HGNC:6947 biolink:NamedThing MCM4 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q24 biolink:NamedThing 8q24 (Human) tmpte7i6ely_mondo_relaxed.owl 145138636 116700000 hg38 owl:Class MONDO:0011687 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|Charcot-Marie-Tooth neuropathy, type 2F|Charcot-Marie-Tooth disease, axonal, type 2F|Charcot Marie Tooth disease type 2F|Charcot-Marie-Tooth disease, neuronal, type 2F|CMT 2F|Charcot-Marie-Tooth neuronal type 2F|autosomal dominant Charcot-Marie-Tooth disease type 2F|HSPB1 Charcot-Marie-Tooth disease type 2|CMT2F|Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuropathy type 2F SCTID:719510006|UMLS:C1847823|GARD:0009194|OMIM:606595|MESH:C535413|UMLS:C4304675|DOID:0110163|ICD10:G60.0|Orphanet:99940 https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f owl:Class Nd243d52480f644119fcc0b5b79bb3606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003501 biolink:NamedThing external ear squamous cell carcinoma A squamous cell carcinoma that arises from the skin of the external ear. tmpte7i6ely_mondo_relaxed.owl external Ear squamous cell carcinoma|epidermoid carcinoma of the external ear|epidermoid carcinoma of the external Ear|external Ear epidermoid carcinoma|squamous cell carcinoma of external Ear|squamous cell carcinoma of the external Ear|squamous cell carcinoma of external ear|external ear squamous cell carcinoma|epidermoid carcinoma of external Ear NCIT:C6083|UMLS:C1333494|DOID:5538 owl:Class MONDO:0011767 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 31 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 31|deafness, autosomal recessive type 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|DFNB31|WHRN autosomal recessive nonsyndromic deafness|whirler, mouse, homolog of|autosomal recessive deafness 31|autosomal recessive nonsyndromic deafness type 31|deafness, autosomal recessive 31 OMIM:607084|ICD10:H90.3|UMLS:C1846839|MESH:C564629|DOID:0110490 owl:Class MONDO:0012430 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|CAMRQ2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2|WDR81 dysequilibrium syndrome|dysequilibrium syndrome caused by mutation in WDR81 UMLS:C2750234|Orphanet:1766|OMIM:610185|MESH:C567656 owl:Class HGNC:26600 biolink:NamedThing WDR81 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007664 biolink:NamedThing glaucoma 1, open angle, A Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene. tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, 50|juvenile open angle glaucoma caused by mutation in MYOC|JOAG1|MYOC juvenile glaucoma|glaucoma 1, open angle, type A|glaucoma hereditary, juvenile|JOAG1A|primary open angle glaucoma juvenile onset 1|MYOC juvenile open angle glaucoma|juvenile glaucoma caused by mutation in MYOC|glaucoma 1, open angle, A|GLC1A|glaucoma, primary open angle, juvenile-onset, 1 OMIM:137750|UMLS:C1842028|Orphanet:98977|GARD:0009485|MESH:C564234 owl:Class HGNC:7610 biolink:NamedThing MYOC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010492 biolink:NamedThing pituitary adenoma, growth hormone-secreting, 2 Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene. tmpte7i6ely_mondo_relaxed.owl acromegaly due to pituitary adenoma 2|GPR101 pituitary gland adenoma|PITA2|pituitary adenoma, Growth hormone-secreting, type 2|pituitary adenoma 2, Growth hormone-secreting|PAGH2|acromegaly, X-linked|pituitary adenoma, growth hormone-secreting, 2|pituitary adenoma 2, growth hormone-secreting|pituitary gland adenoma caused by mutation in GPR101 Orphanet:963|UMLS:C4012409|OMIM:300943 owl:Class HGNC:14963 biolink:NamedThing GPR101 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24565 biolink:NamedThing KANSL1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1641 biolink:NamedThing CD209 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015804 biolink:NamedThing neutral amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011165 biolink:NamedThing glomerulopathy with fibronectin deposits 2 Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. tmpte7i6ely_mondo_relaxed.owl fibronectin glomerulopathy caused by mutation in FN1|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with fibronectin deposits type 2|glomerulopathy with fibronectin deposits 2|fibronectin glomerulopathy|glomerular nephritis familial with fibronectin deposits|FN1 fibronectin glomerulopathy|GFND2 Orphanet:84090|OMIM:601894|GARD:0009914|SCTID:722759007 owl:Class OBO:CHR_9606-chr11q24 biolink:NamedThing 11q24 (Human) tmpte7i6ely_mondo_relaxed.owl 130900000 121300000 hg38 owl:Class GO:0007113 biolink:NamedThing endomitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. tmpte7i6ely_mondo_relaxed.owl endomitosis owl:Class UBERON:0003390 biolink:NamedThing mesothelium of pleural cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008409 biolink:NamedThing MYH7-related late-onset scapuloperoneal muscular dystrophy tmpte7i6ely_mondo_relaxed.owl SPMD|scapuloperoneal muscular dystrophy|MYH7-related scapuloperoneal myopathy|scapuloperoneal myopathy, MYH7-related|MYH7-related late-onset scapuloperoneal syndrome|scapuloperoneal syndrome, myopathic type|SPMM|MYH7-related late-onset SPMD GARD:0010313|UMLS:C2931268|UMLS:CN074265|SCTID:129620000|UMLS:C0751337|ICD10:G71.0|OMIM:181430|Orphanet:437572 owl:Class HP:0100306 biolink:NamedThing Muscle fiber hyaline bodies tmpte7i6ely_mondo_relaxed.owl Muscle fibre hyaline bodies UMLS:C4022155 doelkens 2010-08-10T02:49:13Z human_phenotype owl:Class Ne842227f5b3944bb83f689c863250942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:18130 biolink:NamedThing SYCP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003093 biolink:NamedThing mucoepidermoid esophageal carcinoma A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) tmpte7i6ely_mondo_relaxed.owl mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma UMLS:C1333461|NCIT:C5343|DOID:4686 owl:Class MONDO:0100105 biolink:NamedThing brain small vessel disease 3 An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. tmpte7i6ely_mondo_relaxed.owl BSVD3 OMIM:618360 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100018 biolink:NamedThing adult onset pityriasis rubra pilaris A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life. tmpte7i6ely_mondo_relaxed.owl adult onset PRP GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class N768cd04c7b4d4ba0b6e1e595fe0ac004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0013214 biolink:NamedThing bile acid malabsorption, primary tmpte7i6ely_mondo_relaxed.owl PBAM|bile acid malabsorption, primary UMLS:C2750087|MESH:C567652|OMIM:613291|Orphanet:449262 owl:Class HGNC:10906 biolink:NamedThing SLC10A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012359 biolink:NamedThing combined immunodeficiency due to partial RAG1 deficiency A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. tmpte7i6ely_mondo_relaxed.owl alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity|CID due to partial RAG1 deficiency|CID with expansion of gamma delta T cells|combined immunodeficiency with expansion of gamma delta T cells OMIM:609889|MESH:C563691|SCTID:725290000|ICD10:D81.8|Orphanet:231154|UMLS:C4510944|UMLS:C1835931 owl:Class CHEBI:57652 biolink:NamedThing chondroitin D-glucuronate anion Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3. tmpte7i6ely_mondo_relaxed.owl chondroitin D-glucuronate polyanion|chondroitin D-glucuronate owl:Class MONDO:0004448 biolink:NamedThing frontal sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpte7i6ely_mondo_relaxed.owl frontal sinus inverted papilloma|inverted papilloma of the frontal sinus|inverted papilloma of frontal sinus NCIT:C6842|UMLS:C1333644|DOID:8060 owl:Class MONDO:0013115 biolink:NamedThing RIN2 syndrome RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. tmpte7i6ely_mondo_relaxed.owl RIN2 deficiency|MACS syndrome|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|macrocephaly, alopecia, cutis laxa, and scoliosis|RIN2 syndrome SCTID:723367005|UMLS:C2751321|MESH:C567770|ICD10:Q82.8|OMIM:613075|Orphanet:217335 owl:Class HGNC:18750 biolink:NamedThing RIN2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2169701 biolink:NamedThing Onyong-nyong virus tmpte7i6ely_mondo_relaxed.owl ONN|O'nyong-nyong virus GC_ID:1 NCBITaxon:11027 ncbi_taxonomy owl:Class HP:0001997 biolink:NamedThing Gout Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. tmpte7i6ely_mondo_relaxed.owl Gouty arthritis UMLS:C0018099|MSH:D015210|MSH:D006073|SNOMEDCT_US:170733007|SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|UMLS:C0003868|SNOMEDCT_US:90560007 HP:0001368 human_phenotype owl:Class GO:0098871 biolink:NamedThing postsynaptic actin cytoskeleton The actin cytoskeleton that is part of a postsynapse. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001310 biolink:NamedThing Bowman's membrane folds or rupture tmpte7i6ely_mondo_relaxed.owl Bowman membrane folds or rupture|folds and/or rupture of bowman's membrane ICD9:371.31|DOID:11552|SCTID:45382000|UMLS:C0155115|ICD10:H18.31 owl:Class HGNC:12805 biolink:NamedThing XDH tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50329 biolink:NamedThing 2-carboxyethyl group tmpte7i6ely_mondo_relaxed.owl 2-carboxyethyl|glutamic acid side-chain owl:Class HP:0003225 biolink:NamedThing Reduced coagulation factor V activity Decreased activity of coagulation factor V. tmpte7i6ely_mondo_relaxed.owl Reduced factor V activity|Factor V deficiency MSH:D005166|SNOMEDCT_US:88776002|SNOMEDCT_US:4320005|UMLS:C0015499 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. human_phenotype owl:Class HGNC:1836 biolink:NamedThing CEBPE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016441 biolink:NamedThing acquired pseudoxanthoma elasticum A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type. tmpte7i6ely_mondo_relaxed.owl localized acquired cutaneous pseudoxanthoma elasticum|acquired pseudoxanthoma elasticum (inherited or acquired)|acquired pseudoxanthoma elasticum|acquired PXE|acquired Gronblad-Strandberg-Touraine syndrome ICD9:757.39|Orphanet:228247|UMLS:C1274759|SCTID:403401007 owl:Class MONDO:0009441 biolink:NamedThing autosomal recessive congenital ichthyosis 1 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. tmpte7i6ely_mondo_relaxed.owl ichthyosis, lamellar, 1|ichthyosis congenita 2|lamellar exfoliation of newborn|ichthyosis lamellar 1|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|ichthyosis, congenital, autosomal recessive 1|lamellar ichthyosis, type 1|collodion fetus|ichthyosis congenita|bathing suit ichthyosis|LI1|ichthyosis, lamellar, 1, formerly|autosomal recessive congenital ichthyosis 1|collodion baby, self-healing|ARCI1|autosomal recessive congenital ichthyosis type 1|ichthyosis, congenital, autosomal recessive type 1|desquamation of newborn ICD10:Q80.2|Orphanet:313|DOID:0060656|GARD:0003170|Orphanet:281122|Orphanet:100976|UMLS:C3536797|MESH:D017490|OMIM:242300 https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 owl:Class UBERON:0018235 biolink:NamedThing capsule of pancreas tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000061 biolink:NamedThing placental amniotic mesenchymal stromal cell Any mesenchymal stem cell that is part of a placenta. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7140 TermGenie 2014-10-07T17:51:11Z cell owl:Class GO:2001225 biolink:NamedThing regulation of chloride transport Any process that modulates the frequency, rate or extent of chloride transport. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12014 biolink:NamedThing TPMT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012245 biolink:NamedThing developmental and epileptic encephalopathy, 3 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene. tmpte7i6ely_mondo_relaxed.owl DEE3|epileptic encephalopathy, early infantile, 3|SLC25A22 early infantile epileptic encephalopathy|EIEE3|epileptic encephalopathy, early infantile, type 3|early infantile epileptic encephalopathy caused by mutation in SLC25A22 UMLS:C0270855|Orphanet:1935|OMIM:609304|DOID:0080440 owl:Class HGNC:19954 biolink:NamedThing SLC25A22 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008485 biolink:NamedThing sebocystomatosis Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. tmpte7i6ely_mondo_relaxed.owl sebaceous cysts, multiple|multiplex steatocystoma|Steatocystoma multiplex|multiple sebaceous cysts|STEATOCYSTOMA multiplex UMLS:C0259771|SCTID:109433009|GARD:0005003|ICD10:L72.2|DOID:0111556|OMIM:184500|UMLS:C3671377|Orphanet:841 owl:Class UBERON:0009291 biolink:NamedThing cartilaginous vertebral centrum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002701 biolink:NamedThing ovarian mucinous cystadenocarcinoma An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. tmpte7i6ely_mondo_relaxed.owl ovary mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of the ovary|ovarian mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of ovary EFO:1001963|DOID:3604|UMLS:C0279665|SCTID:254851009|NCIT:C4026 owl:Class MONDO:0011177 biolink:NamedThing ectodermal dysplasia 4, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia 4, hair/nail type|pili torti onychodysplasia|ectodermal dysplasia, 'Pure' hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in KRT85|KRT85 pure hair and nail ectodermal dysplasia|ECTD4|twisted hair with nail dysplasias OMIM:602032|UMLS:C2931483|MESH:C566592|DOID:0111658|GARD:0004364|Orphanet:69084 owl:Class HGNC:6462 biolink:NamedThing KRT85 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23157 biolink:NamedThing ALG6 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004255 biolink:NamedThing forelimb stylopod muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042582 biolink:NamedThing azurophil granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. tmpte7i6ely_mondo_relaxed.owl primary granule owl:Class HP:0001336 biolink:NamedThing Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. tmpte7i6ely_mondo_relaxed.owl Jerking|Involuntary jerking movements|Myoclonic jerks UMLS:C1854302|MSH:D009207|UMLS:C0027066|SNOMEDCT_US:127324008|SNOMEDCT_US:17450006 Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. HP:0007087|HP:0002535 human_phenotype owl:Class CL:1001593 biolink:NamedThing parathyroid glandular cell Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells. tmpte7i6ely_mondo_relaxed.owl parathyroid gland glandular cell|parathyroid gland glandular cells CALOHA:TS-1279 owl:Class HGNC:491 biolink:NamedThing ANGPTL3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010224 biolink:NamedThing right pupil tmpte7i6ely_mondo_relaxed.owl owl:Class N4bb6bfbac8c246b28dc165caf3eba416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010099 biolink:NamedThing Tay-Sachs disease AB variant GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. tmpte7i6ely_mondo_relaxed.owl Tay-Sachs disease, variant AB|Ab variant GM2-gangliosidosis|hexosaminidase activator deficiency|GM2 activator deficiency|Tay-Sachs disease, AB variant|GM2-gangliosidosis, AB variant|GM2 gangliosidosis, AB variant NCIT:C133084|Orphanet:309246|ICD10:E75.0|UMLS:C0268275|OMIM:272750|DOID:4795|SCTID:71253000|MESH:D049290 owl:Class N71b89096a8604518b9ef920884c75692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014048 biolink:NamedThing Cowden syndrome 6 Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene. tmpte7i6ely_mondo_relaxed.owl Cowden disease caused by mutation in AKT1|Cowden syndrome 6|AKT1 Cowden disease|Cowden syndrome type 6|CWS6 OMIM:615109|Orphanet:201|UMLS:C3554519 owl:Class HGNC:391 biolink:NamedThing AKT1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:4200230 biolink:NamedThing surface of bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18062 biolink:NamedThing GPT2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043523 biolink:NamedThing cadmium poisoning Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. tmpte7i6ely_mondo_relaxed.owl Itai-Itai|cadmium Poisonings|poisoning, cadmium|cadmium poisoning|Itai Itai|Poisonings, cadmium MESH:D002105|SCTID:3398004 owl:Class MONDO:0013984 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 84B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 84B|DFNB84B|deafness, autosomal recessive type 84B|OTOGL autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 84B|autosomal recessive deafness 84B|autosomal recessive nonsyndromic deafness caused by mutation in OTOGL|autosomal recessive nonsyndromic deafness type 84B ICD10:H90.3|OMIM:614944|DOID:0110530|UMLS:C3554159 owl:Class MONDO:0002442 biolink:NamedThing long QT syndrome A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. tmpte7i6ely_mondo_relaxed.owl LQT|ventricular arrhythmia associated with long QT syndrome|long QT syndrome|long Q-T syndrome MESH:D008133|ICD9:426.82|NCIT:C34786|Orphanet:768|DOID:2843|Orphanet:101016|ICD10:I45.81|NCIT:C85049|SCTID:20852007|UMLS:C0023976|UMLS:C0035828 owl:Class MONDO:0014682 biolink:NamedThing thyroid cancer, nonmedullary, 5 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene. tmpte7i6ely_mondo_relaxed.owl thyroid cancer, nonmedullary, 5|thyroid cancer, nonmedullary caused by mutation in HABP2|NMTC5|HABP2 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, type 5 Orphanet:319487|UMLS:C4225292|OMIM:616535 owl:Class UBERON:0003333 biolink:NamedThing submucosa of jejunum tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10327 biolink:NamedThing RPL26 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001116 biolink:NamedThing mesenteric lymphadenitis Inflammation of the mesenteric lymph nodes. tmpte7i6ely_mondo_relaxed.owl mesentery lymphadenitis (disease)|mesenteric lymphadenitis|mesenteric adenitis|lymphadenitis (disease) of mesentery ICD9:289.2|NCIT:C26830|SCTID:44897000|DOID:10782|UMLS:C0025469|ICD10:I88.0|MESH:D008640 owl:Class NCBITaxon:69826 biolink:NamedThing Ornithodoros savignyi tmpte7i6ely_mondo_relaxed.owl Argas savignyi GC_ID:1 ncbi_taxonomy owl:Class ENVO:01001192 biolink:NamedThing sediment surface The surface layer of a mass of sediment. tmpte7i6ely_mondo_relaxed.owl surface sediment|surface of a sedimentary mass owl:Class HGNC:4845 biolink:NamedThing HCN1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14344 biolink:NamedThing C1QTNF5 tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000551 biolink:NamedThing visual object recognition "Ability to perceive the physical properties of an object (such as shape, colour and texture) and apply semantic attributes to the object, which includes the understanding of its use, previous experience with the object and how it relates to others." [wikipedia:Cognitive_Neuroscience_of_Visual_Object_Recognition] tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8926 biolink:NamedThing PHKA2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012758 biolink:NamedThing prostate cancer, hereditary, 13 Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene. tmpte7i6ely_mondo_relaxed.owl HPC13|prostate cancer, hereditary, 13|prostate cancer, hereditary, type 13|familial prostate cancer caused by mutation in MSMB|MSMB familial prostate cancer OMIM:611928|Orphanet:1331|MESH:C567456|UMLS:C2677821 owl:Class PO:0009001 biolink:NamedThing fruit A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062), or a single carpel (PO:0009030), and at maturity may have as parts one or more seeds (PO:0009010). tmpte7i6ely_mondo_relaxed.owl compound fruit (broad)|diaspore (broad)|dehiscent fruit (broad)|果実 (exact, Japanese)|coenocarp (narrow)|multiple fruit (broad)|fruto (exact, Spanish)|indehiscent fruit (broad)|aggregate fruit (broad)|frucht (exact, German)|propagule (broad)|syncarp (narrow) PO_GIT:76 A fruit (PO:0009001) may contain additional plant structures (PO:0009011) that were part of a flower (PO:0009046) and mature along with the gynoecium, such as a receptacle (PO:0009064). A fruit may develop without fertilization in cases of parthenocarpy, apomixis, or other hormone-induced conditions and may not always contain seeds (PO:0009010). When annotating to fruit (PO:0009001) that are referred to as ‘aggregate’, ‘multiple’, or ‘compound’, please annotate directly to the appropriate plant structure, such as receptacle, hypanthium (PO:0009065) or infructescence (PO:0006342). Fruits only occur in angiosperms. PO:0020078|PO:0020076|PO:0020072|PO:0020073|PO:0020068|PO:0020077|PO:0020067|PO:0020080|PO:0020069|PO:0020070|PO:0020087|PO:0020082|PO:0020079|PO:0020083|PO:0020071|PO:0020107|PO:0020074 plant_anatomy owl:Class UBERON:0013705 biolink:NamedThing fascia of Scarpa tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33913 biolink:NamedThing corrinoid A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. tmpte7i6ely_mondo_relaxed.owl Corrinoid|corrinoide|corrinoid|corrinoids|corrinoides|Corrinoid protein|Corrinoid protein Co+|Korrinoid owl:Class HGNC:14673 biolink:NamedThing FYCO1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001558 biolink:NamedThing Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements. tmpte7i6ely_mondo_relaxed.owl Reduced fetal movements|Fetal hypokinesia|Decreased movement in utero|Reduced foetal movements|Decreased foetal activity|Less than 10 foetal movements in 12 hours|Decreased fetal movements|Less than 10 fetal movements in 12 hours|Reduced foetal movement|Decreased foetal movement|Decreased fetal activity|Decreased foetal movements|Foetal hypokinesia|Reduced fetal movement UMLS:C0235659|SNOMEDCT_US:276369006 HP:0007631|HP:0006840|HP:0001559|HP:0007630 human_phenotype owl:Class UBERON:0005133 biolink:NamedThing metanephric glomerulus vasculature tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1248 biolink:NamedThing C2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:13373 biolink:NamedThing Burkholderia mallei tmpte7i6ely_mondo_relaxed.owl Acinetobacter mallei|Pfeifferella mallei|Pseudomonas mallei|Malleomyces mallei|Loefferella mallei|Actinobacillus mallei|Bacillus mallei PMID:16558776|PMID:1283774|PMID:12734250|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003376 biolink:NamedThing mediastinum leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl mediastinal leiomyosarcoma|leiomyosarcoma of mediastinum|leiomyosarcoma of the mediastinum|mediastinum leiomyosarcoma NCIT:C6619|UMLS:C1334660|DOID:5292 owl:Class HGNC:30935 biolink:NamedThing YY1AP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024541 biolink:NamedThing trichohepatoenteric syndrome 1 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene. tmpte7i6ely_mondo_relaxed.owl THES1|TTC37 tricho-hepato-enteric syndrome|diarrhea, syndromic|The syndrome|TRICHOHEPATOENTERIC syndrome 1|trichohepatoenteric syndrome 1|tricho-hepato-enteric syndrome caused by mutation in TTC37|diarrhea, fatal infantile, with trichorrhexis nodosa Orphanet:84064|DOID:0111415|UMLS:C1857276|OMIM:222470|UMLS:CN034858 owl:Class UBERON:0001848 biolink:NamedThing auricular cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4036 biolink:NamedThing FYB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011873 biolink:NamedThing Niemann-Pick disease, type C2 Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl NPC2|type C2 Niemann-Pick disease|Niemann-Pick disease, type C2|Niemann-PICK disease, type C2|Niemann-Pick disease type C2 Orphanet:646|UMLS:C1843366|NCIT:C126865|GARD:0003992|MESH:C536119|ICD10:E75.2|DOID:0070114|OMIM:607625 https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2 owl:Class CL:2000000 biolink:NamedThing epidermal melanocyte Any melanocyte that is part of a epidermis. tmpte7i6ely_mondo_relaxed.owl These cells are found primarily, but not exclusively, in primates including humans TermGenie 2014-02-03T23:03:09Z cell owl:Class HGNC:5541 biolink:NamedThing IGHM tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004893 biolink:NamedThing interalveolar septum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014970 biolink:NamedThing spermatogenic failure 17 Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene. tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 17; SPGF17|spermatogenic failure type 17|azoospermia caused by mutation in PLCZ1|Male infertility due to oocyte Activation failure|PLCZ1 azoospermia|spermatogenic failure 17|SPGF17 UMLS:C4310666|DOID:0070174|OMIM:617214 owl:Class HGNC:19218 biolink:NamedThing PLCZ1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013241 biolink:NamedThing embryonic urethral groove tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012323 biolink:NamedThing lethal acantholytic epidermolysis bullosa Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters. tmpte7i6ely_mondo_relaxed.owl EBLA|LAEB|lethal acantholytic epidermolysis bullosa|epidermolysis bullosa, lethal acantholytic GARD:0009910|OMIM:609638|MESH:C535493|ICD10:Q81.0|Orphanet:158687|UMLS:C1864826 https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic owl:Class HGNC:9817 biolink:NamedThing RAD51 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11079 biolink:NamedThing SLC9A6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007510 biolink:NamedThing Clouston syndrome Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. tmpte7i6ely_mondo_relaxed.owl Clouston syndrome|hidrotic ectodermal dysplasia|Clouston's syndrome|ectodermal dysplasia, hidrotic, 2|ectodermal dysplasia, hidrotic|Patel Bixler syndrome|hidrotic ectodermal dysplasia, autosomal dominant|ectodermal dysplasia 2, Clouston type|Clouston hidrotic ectodermal dysplasia|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|ectodermal dysplasia, hidrotic, 2, formerly|autosomal dominant hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|ED2|Clouston's hidrotic ectodermal dysplasia|palmoplantar hyperkeratosis and alopecia|hidrotic ectodermal dysplasia syndrome MESH:D004476|GARD:0002056|Orphanet:189|ICD10:Q82.8|SCTID:54209007|OMIM:129500|GARD:0004253|DOID:14693 owl:Class MONDO:0008201 biolink:NamedThing Perry syndrome Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. tmpte7i6ely_mondo_relaxed.owl parkinsonism with alveolar hypoventilation and mental depression|Parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome ICD9:348.89|GARD:0010453|OMIM:168605|DOID:0060486|MESH:C566822|UMLS:C1868594|Orphanet:178509|SCTID:699184009 https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome owl:Class MONDO:0011421 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. tmpte7i6ely_mondo_relaxed.owl Complex 5 mitochondrial respiratory chain deficiency|MC5DN1|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1|mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|mitochondrial complex V deficiency DOID:0050768|Orphanet:254913|GARD:0001459|ICD10:E88.8|OMIM:604273|UMLS:C3276276 https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency owl:Class HGNC:18802 biolink:NamedThing ATPAF2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018326 biolink:NamedThing transient neonatal myasthenia gravis Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies. tmpte7i6ely_mondo_relaxed.owl neonatal myasthenia gravis|transient neonatal autoimmune myasthenia gravis|NMG|transient neonatal acquired myasthenia ICD10:P94.0|UMLS:C0495465|NCIT:C117308|Orphanet:391504 owl:Class HGNC:11119 biolink:NamedThing SMO tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:23004 biolink:NamedThing carbamoyl group The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. tmpte7i6ely_mondo_relaxed.owl -CONH2|carbamyl|-C(O)NH2|aminocarbonyl|carbamyl group|carboxamide|carbamoyl owl:Class HGNC:24969 biolink:NamedThing NPRL2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013779 biolink:NamedThing Wiskott-Aldrich syndrome 2 Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene. tmpte7i6ely_mondo_relaxed.owl Wiskott-Aldrich syndrome type 2|Wiskott-Aldrich syndrome caused by mutation in WIPF1|Wiskott-Aldrich syndrome 2|Wipf1 deficiency|WAS2|WIPF1 Wiskott-Aldrich syndrome OMIM:614493|OMIM:277970|UMLS:C3281001|Orphanet:906 owl:Class MONDO:0008858 biolink:NamedThing Behr syndrome Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. tmpte7i6ely_mondo_relaxed.owl Behr syndrome|BEHRS|optic atrophy, infantile hereditary, Behr complicated form of|optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss|optic atrophy, infantile hereditary, with neurologic abnormalities|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss ICD10:H35.5|Orphanet:1239|GARD:0000849|OMIM:210000|UMLS:C0221061|DOID:0111580|SCTID:718221007|MESH:C537669 Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form https://rarediseases.info.nih.gov/diseases/849/behr-syndrome owl:Class MONDO:0016859 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement. tmpte7i6ely_mondo_relaxed.owl blepharophimosis-epicanthus inversus-ptosis due to a CNV|blepharophimosis types 1 and 2 due to copy number variations UMLS:CN202202|Orphanet:261579|ICD10:Q10.3|OMIM:110100 owl:Class SO:0001019 biolink:NamedThing copy_number_variation A variation that increases or decreases the copy number of a given region. tmpte7i6ely_mondo_relaxed.owl copy number variation|CNP|copy number polymorphism|CNV owl:Class MONDO:0014441 biolink:NamedThing Bardet-Biedl syndrome 13 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpte7i6ely_mondo_relaxed.owl MKS1 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in MKS1|Bardet-Biedl syndrome 13|Bardet-Biedl syndrome type 13|BBS13 Orphanet:110|DOID:0110135|MESH:C567140|UMLS:C2673873|OMIM:615990|ICD10:Q87.89 owl:Class MONDO:0001777 biolink:NamedThing acute gonococcal cystitis Acute form of gonococcal cystitis. tmpte7i6ely_mondo_relaxed.owl acute gonorrhea of bladder|gonococcal cystitis (acute)|gonococcal cystitis, acute ICD9:098.11|UMLS:C0153191|DOID:13690|SCTID:24868007 owl:Class GO:0005884 biolink:NamedThing actin filament A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. tmpte7i6ely_mondo_relaxed.owl microfilament owl:Class N7cc1aadde4ad427d9e201cc4bca5ec6c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017389 biolink:NamedThing tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase. tmpte7i6ely_mondo_relaxed.owl BH4-responsive HPA/PKU|tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria ICD10:E70.1|Orphanet:293284 owl:Class HGNC:853 biolink:NamedThing ATP6V1B1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000060 biolink:NamedThing particulate matter Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019130 biolink:NamedThing tubular renal disease-cardiomyopathy syndrome A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl Orphanet:73224|UMLS:CN205654|ICD10:N25.8 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0014680 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 7 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene. tmpte7i6ely_mondo_relaxed.owl IRF3 herpes simplex encephalitis|encephalopathy, acute, infection-induced, susceptibility to, 7|Herpes simplex encephalitis, susceptibility to, 5|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7|IIAE7|herpes simplex encephalitis caused by mutation in IRF3|Herpes simplex encephalitis, susceptibility to, type 7|herpes simplex encephalitis, susceptibility to, 7 OMIM:616532|Orphanet:1930 owl:Class HGNC:28403 biolink:NamedThing TRMT10A tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:214035 biolink:NamedThing Tunga penetrans tmpte7i6ely_mondo_relaxed.owl chigoe flea|chigger GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015749 biolink:NamedThing 6q16 deletion syndrome Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. tmpte7i6ely_mondo_relaxed.owl monosomy 6q16|Del(6)(q16)|Prader-Willi-like syndrome due to deletion 6q16 UMLS:CN200301|ICD10:Q93.5|Orphanet:171829 owl:Class MONDO:0019108 biolink:NamedThing silent sinus syndrome Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. tmpte7i6ely_mondo_relaxed.owl Imploding antrum syndrome UMLS:C3698095|Orphanet:71276|SCTID:699802009|ICD9:478.19 owl:Class MONDO:0002781 biolink:NamedThing glossopharyngeal nerve paralysis Paralysis of the glossopharyngeal nerve. tmpte7i6ely_mondo_relaxed.owl cranial nerve palsy of glossopharyngeal nerve|glossopharyngeal nerve cranial nerve palsy NCIT:C27335|UMLS:C0919940|DOID:3816 owl:Class UBERON:0022275 biolink:NamedThing colic flexure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011296 biolink:NamedThing Meckel syndrome, type 2 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpte7i6ely_mondo_relaxed.owl Meckel-Gruber syndrome, type 2|Meckel syndrome 2|TMEM216 Meckel syndrome|Meckel syndrome type 2|MKS2|Meckel syndrome caused by mutation in TMEM216|Meckel syndrome, type 2 OMIM:603194|ICD10:Q61.9|DOID:0070116|Orphanet:564|MESH:C536131|UMLS:C1864148|GARD:0008743 https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 owl:Class MONDO:0001025 biolink:NamedThing seminal vesicle chronic gonorrhea Chronic form of gonococcal seminal vesiculitis. tmpte7i6ely_mondo_relaxed.owl chronic gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, chronic ICD9:098.34|UMLS:C0153205|DOID:10399|SCTID:23975003 owl:Class GO:0005243 biolink:NamedThing gap junction channel activity A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. tmpte7i6ely_mondo_relaxed.owl innexin channel activity|connexin|innexin|intercellular channel owl:Class UBERON:0002279 biolink:NamedThing vestibular aqueduct tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042475 biolink:NamedThing odontogenesis of dentin-containing tooth The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. tmpte7i6ely_mondo_relaxed.owl odontosis|odontogenesis of dentine-containing teeth|odontogeny|odontogenesis of dentine-containing tooth|tooth development owl:Class UBERON:0003425 biolink:NamedThing renal lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009368 biolink:NamedThing urofacial syndrome type 1 tmpte7i6ely_mondo_relaxed.owl hydronephrosis with peculiar Facial expression|urofacial syndrome 1|UFS1|Ochoa syndrome|inverted smile and occult neuropathic bladder|facial palsy, partial, with urinary abnormalities|urofacial syndrome type 1|urofacial syndrome OMIM:236730 owl:Class MONDO:0004521 biolink:NamedThing adult epithelioid sarcoma An epithelioid sarcoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl epithelioid sarcoma|adult epithelioid sarcoma|epithelioid sarcoma of adults UMLS:C0279545|DOID:8282|NCIT:C7944 owl:Class MONDO:0013033 biolink:NamedThing cerebral palsy, spastic quadriplegic, 2 Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene. tmpte7i6ely_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 2|spastic quadriplegia caused by mutation in KANK1|cerebral palsy, spastic quadriplegic, type 2|KANK1 spastic quadriplegia|CPSQ2 OMIM:612900|Orphanet:210141|UMLS:C2752061|MESH:C567867 owl:Class HGNC:19309 biolink:NamedThing KANK1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016549 biolink:NamedThing central nervous system white matter layer tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013864 biolink:NamedThing Cornelia de Lange syndrome 4 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene. tmpte7i6ely_mondo_relaxed.owl Cornelia DE Lange syndrome 4|Cornelia de Lange syndrome caused by mutation in RAD21|Cornelia De Lange syndrome type 4|Cornelia de Lange syndrome 4|RAD21 Cornelia de Lange syndrome|CDLS4 UMLS:C3553517|Orphanet:199|DOID:0080508|OMIM:614701 owl:Class HGNC:9811 biolink:NamedThing RAD21 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012531 biolink:NamedThing xeroderma pigmentosum group B Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. tmpte7i6ely_mondo_relaxed.owl XP, Group B|xeroderma pigmentosum, type 2|XPB/CS|ERCC3 xeroderma pigmentosum|xeroderma pigmentosum, complementation group B|XPB|xeroderma pigmentosum group B|XPBC|xeroderma pigmentosum, complementation group type B|xeroderma pigmentosum B/Cockayne syndrome|xeroderma pigmentosum group type B|xeroderma pigmentosum caused by mutation in ERCC3|XP group B|XP-B Orphanet:910|OMIM:610651|NCIT:C3966|DOID:0110850|GARD:0005625|Orphanet:220295|ICD10:Q82.1|MESH:C562590|Orphanet:276252|SCTID:1073003|UMLS:C0268136 owl:Class UBERON:0001499 biolink:NamedThing muscle of arm tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004339 biolink:NamedThing glucan 1,4-alpha-glucosidase activity Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose. tmpte7i6ely_mondo_relaxed.owl gamma-1,4-glucan glucohydrolase activity|1,4-alpha-D-glucan glucohydrolase activity|glucose amylase activity|exo-1,4-alpha-glucosidase activity|glucoamylase activity|gamma-amylase activity|amyloglucosidase activity|lysosomal alpha-glucosidase activity owl:Class HGNC:14373 biolink:NamedThing GLMN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002792 biolink:NamedThing cerebellar vermis medulloblastoma A medulloblastoma arising from the vermis of the cerebellum. tmpte7i6ely_mondo_relaxed.owl medulloblastoma of the cerebellar vermis|medulloblastoma of cerebellar vermis|vermis medulloblastoma|cerebellar vermis medulloblastoma NCIT:C5401|DOID:3860|UMLS:C1332903 owl:Class MONDO:0005852 biolink:NamedThing mitral valve stenosis Narrowing of the left atrioventricular mitral orifice. tmpte7i6ely_mondo_relaxed.owl valve stenoses, mitral|mitral valve stenoses|stenoses, mitral valve|stenosis, mitral valve|valve stenosis, mitral|stenoses, mitral|stenosis, mitral|mitral stenoses|mitral stenosis EFO:0007372|DOID:1754|NCIT:C50654|MESH:D008946|SCTID:79619009|UMLS:C0026269 owl:Class MONDO:0012543 biolink:NamedThing optic atrophy 5 tmpte7i6ely_mondo_relaxed.owl OPA5|optic atrophy 5 GARD:0010201|OMIM:610708|DOID:0111438|MESH:C537126|UMLS:C1853139|Orphanet:98673 owl:Class GO:0099004 biolink:NamedThing calmodulin dependent kinase signaling pathway Any signal transduction pathway involving calmodulin dependent kinase activity. tmpte7i6ely_mondo_relaxed.owl CAMK signaling pathway owl:Class UBERON:0035650 biolink:NamedThing nerve of clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:166 biolink:NamedThing ACTN4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005806 biolink:NamedThing hypopharynx cancer A primary or metastatic malignant neoplasm that affects the hypopharynx. tmpte7i6ely_mondo_relaxed.owl hypural pharynx cancer|malignant neoplasm of other specified hypopharyngeal site|pharynx cancer of hypopharynx|malignant neoplasm of other specified sites of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|malignant tumor of hypopharynx|malignant hypopharyngeal tumor|malignant neoplasm of posterior wall of hypopharynx|malignant tumor of posterior wall of hypopharynx|malignant neoplasm of the hypopharynx|hypopharynx pharynx cancer|malignant neoplasm of ill-defined sites within the lip and oral cavity|malignant neoplasm of hypopharynx|malignant tumour of hypopharynx|malignant tumor of the hypopharynx|hypopharyngeal cancer|malignant hypopharyngeal neoplasm ICD10:C13.9|MESH:D007012|GARD:0009334|NCIT:C7190|ICD10:C13.2|ICD9:148.3|DOID:8533|SCTID:303012000|ICD10:C13|EFO:0007321|ICD9:148.9|ICD9:148 owl:Class MONDO:0024182 biolink:NamedThing dry beriberi tmpte7i6ely_mondo_relaxed.owl endemic neuritis ICD10CM:E51.11|DOID:0070318 owl:Class MONDO:0001209 biolink:NamedThing common wart A wart caused by human papillomavirus. It can appear anywhere on the skin. tmpte7i6ely_mondo_relaxed.owl viral wart|verruca vulgaris|viral Warts|viral Warts due to papilloma virus|wart|common wart SCTID:57019003|ICD9:078.10|ICD10:B07.8|ICD9:078.1|ICD9:078.19|MESH:D014860|ICD10:B07|DOID:11165|NCIT:C27087|UMLS:C0043037 owl:Class MONDO:0016077 biolink:NamedThing congenital aortopulmonary window tmpte7i6ely_mondo_relaxed.owl aorta-pulmonary artery fistula|congenital aortopulmonary artery fistula|aorto-pulmonary artery fistula|aortopulmonary fistula|congenital aortopulmonary septal defect MESH:C537782|UMLS:C2931610|Orphanet:2037|GARD:0000738|ICD10:Q21.4 owl:Class CL:0002637 biolink:NamedThing keratinized epithelial cell of the anal canal An epithelial cell of the anal canal that is keratinized. This cell type is found towards the lower, rectal end of the anal canal. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-07-08T02:08:40Z cell owl:Class MONDO:0001760 biolink:NamedThing photokeratitis Injury to the cornea secondary to ultraviolet light. tmpte7i6ely_mondo_relaxed.owl ultraviolet keratitis ICD9:370.24|ICD10:H16.13|UMLS:C0155078|SCTID:1714005|DOID:13626|NCIT:C118750 owl:Class CL:1000716 biolink:NamedThing kidney outer medulla collecting duct principal cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001132 cell owl:Class CL:0000847 biolink:NamedThing ciliated olfactory receptor neuron An olfactory receptor cell in which the apical ending of the dendrite is a pronounced ciliated olfactory knob. tmpte7i6ely_mondo_relaxed.owl ciliated olfactory sensory neuron|ciliated sensory neuron cell owl:Class MONDO:0006781 biolink:NamedThing Helicobacter pylori infectious disease Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. tmpte7i6ely_mondo_relaxed.owl infection, Helicobacter|infections, Helicobacter|Helicobacter infection|Helicobacter pylori disease or disorder|Helicobacter pylori caused disease or disorder|Helicobacter pylori infection, susceptibility to EFO:1000961|MESH:D016481 owl:Class MONDO:0013273 biolink:NamedThing chromosome 16p13.3 duplication syndrome 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. tmpte7i6ely_mondo_relaxed.owl distal duplication 16p|telomeric duplication 16p|trisomy 16pter|chromosome 16p13.3 duplication|distal trisomy 16p|16p13.3 duplication|16p13.3 microduplication syndrome|dup(16)(p13.3)|chromosome 16p13.3 duplication syndrome|interstitial 16p13.3 duplication UMLS:C4518796|GARD:0010755|Orphanet:96078|ICD10:Q92.3|OMIM:613458|DOID:0060431|SCTID:733473000|UMLS:C3150708 https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication owl:Class UBERON:0002077 biolink:NamedThing cortex of hair tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004203 biolink:NamedThing female urethral cancer A cancer that involves the female urethra. tmpte7i6ely_mondo_relaxed.owl female urethra cancer|malignant neoplasm of female urethra|cancer of female urethra|female urethral malignant neoplasm|malignant female urethra neoplasm UMLS:C1517154|DOID:738|NCIT:C39866 owl:Class HGNC:10297 biolink:NamedThing RPIA tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1903825 biolink:NamedThing organic acid transmembrane transport The process in which an organic acid is transported across a membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005533 biolink:NamedThing distal colitis Particular variety of ulcerative colitis where only the left half of the colon is inflamed. tmpte7i6ely_mondo_relaxed.owl inflammation of left colon|left colon inflammation SCTID:373639002|UMLS:C0860168|EFO:0005623|ICD9:558.9 owl:Class MONDO:0009063 biolink:NamedThing ventriculomegaly-cystic kidney disease tmpte7i6ely_mondo_relaxed.owl congenital nephrosis-cerebral ventriculomegaly syndrome|ventriculomegaly with cystic kidney disease|VMCKD OMIM:219730|Orphanet:443988|DOID:0111625|UMLS:C1857423 owl:Class GO:0060090 biolink:NamedThing molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. tmpte7i6ely_mondo_relaxed.owl protein complex scaffold activity|protein-containing complex scaffold activity|binding, bridging owl:Class CL:1001578 biolink:NamedThing vagina squamous cell Squamous cell of vaginal epithelium. tmpte7i6ely_mondo_relaxed.owl vagina squamous epithelial cells|vagina squamous epithelial cell|vaginal squamous cell|vaginal squamous epithelial cell CALOHA:TS-1254 owl:Class MONDO:0013436 biolink:NamedThing retinitis pigmentosa 39 Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene. tmpte7i6ely_mondo_relaxed.owl USH2A retinitis pigmentosa|retinitis pigmentosa type 39|retinitis pigmentosa caused by mutation in USH2A|RP39|retinitis pigmentosa 39 Orphanet:791|DOID:0110360|UMLS:C3151138|ICD10:H35.5|OMIM:613809 owl:Class MONDO:0001423 biolink:NamedThing drug-induced mental disorder tmpte7i6ely_mondo_relaxed.owl ICD9:292.89|ICD9:292.8|DOID:1203 owl:Class CHEBI:59869 biolink:NamedThing L-alpha-amino acid zwitterion Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpte7i6ely_mondo_relaxed.owl L-alpha-amino acid zwitterions|an L-alpha-amino acid owl:Class CHEBI:16150 biolink:NamedThing benzoate The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1. tmpte7i6ely_mondo_relaxed.owl Benzeneformate|Phenylformate|benzoic acid, ion(1-)|Phenylcarboxylate|benzoate anion|benzoate|Benzenemethanoate|Benzenecarboxylate owl:Class MONDO:0012111 biolink:NamedThing hypertrophic cardiomyopathy 8 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy 8|cardiomyopathy, familial hypertrophic, type 8|MYL3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 8|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|CMH8|hypertrophic cardiomyopathy caused by mutation in MYL3|cardiomyopathy, familial hypertrophic, 8 DOID:0110314|MESH:C563866|OMIM:608751|UMLS:C1837471 owl:Class HGNC:7584 biolink:NamedThing MYL3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4319 biolink:NamedThing GLI3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014427 biolink:NamedThing cone-rod dystrophy 20 Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene. tmpte7i6ely_mondo_relaxed.owl cone-rod dystrophy 20|POC1B cone-rod dystrophy|cone-rod dystrophy type 20|CORD20|cone-rod dystrophy caused by mutation in POC1B OMIM:615973|UMLS:C4014856|DOID:0111026 owl:Class HGNC:18806 biolink:NamedThing CAMTA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054637 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 1 tmpte7i6ely_mondo_relaxed.owl Noonan syndrome-like disorder with loose anagen hair 1|NSLH|Tosti syndrome|NSLH1 OMIM:607721 owl:Class HGNC:15454 biolink:NamedThing SHOC2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7217 biolink:NamedThing MPL tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000478 biolink:NamedThing transitional myocyte of sinoatrial node A transitional myocyte that is part of the sinoatrial node. tmpte7i6ely_mondo_relaxed.owl transitinal myocyte of sinuatrial node FMA:83384 cell owl:Class MONDO:0014494 biolink:NamedThing psoriasis 15, pustular, susceptibility to Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene. tmpte7i6ely_mondo_relaxed.owl PSORS15|psoriasis 15, pustular, susceptibility to|susceptibility to pustular psoriasis 15|AP1S3 generalized pustular psoriasis|generalized pustular psoriasis caused by mutation in AP1S3 OMIM:616106|DOID:0111281|Orphanet:247353 owl:Class HP:0001279 biolink:NamedThing Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. tmpte7i6ely_mondo_relaxed.owl Fainting spell SNOMEDCT_US:271594007|MSH:D013575|UMLS:C0039070|SNOMEDCT_US:309585006|SNOMEDCT_US:272030005 peter 2008-02-25T10:37:00Z human_phenotype owl:Class MONDO:0010807 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 2 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive type 2|autosomal recessive deafness 2|autosomal recessive nonsyndromic deafness 2|autosomal recessive nonsyndromic deafness type 2|autosomal recessive nonsyndromic deafness caused by mutation in MYO7A|MYO7A autosomal recessive nonsyndromic deafness|DFNB2|deafness, autosomal recessive 2|neurosensory nonsyndromic recessive deafness 2 DOID:0110477|MESH:C564007|UMLS:C1838701|ICD10:H90.3|OMIM:600060 owl:Class UBERON:0004260 biolink:NamedThing upper arm blood vessel tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3529 biolink:NamedThing F11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011957 biolink:NamedThing retinal macular dystrophy type 2 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. tmpte7i6ely_mondo_relaxed.owl macular dystrophy, retinal, 2|macular dystrophy, retinal, type 2|MCDR2 Orphanet:319640|ICD10:H35.5|OMIM:608051|MESH:C562746 owl:Class CL:1000391 biolink:NamedThing melanocyte of eyelid A melanocyte that is part of the eyelid. tmpte7i6ely_mondo_relaxed.owl eyelid melanocyte|sebaceous gland of wolff FMA:59175 cell owl:Class Na1b4699766c942f68db9c6c60bd7b1db biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:9364 biolink:NamedThing PRG4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004353 biolink:NamedThing extrahepatic biliary papillomatosis A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts. tmpte7i6ely_mondo_relaxed.owl extrahepatic bile duct papillary neoplasm|extrahepatic bile duct papillomatosis|extrahepatic biliary papillomatosis NCIT:C7124|DOID:7752|UMLS:C1333511 owl:Class MONDO:0001375 biolink:NamedThing bladder trigone cancer A malignant neoplasm involving the trigone of urinary bladder. tmpte7i6ely_mondo_relaxed.owl cancer of trigone of urinary bladder|malignant neoplasm of trigone of urinary bladder|malignant trigone of urinary bladder neoplasm|trigone of urinary bladder cancer DOID:11813|ICD10:C67.0|ICD9:188.0|SCTID:188239000|UMLS:C0496826 owl:Class HGNC:3791 biolink:NamedThing FOLR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4421 biolink:NamedThing GNRHR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012071 biolink:NamedThing congenital generalized lipodystrophy type 1 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene. tmpte7i6ely_mondo_relaxed.owl BSCL1|Brunzell syndrome AGPAT2-related|lipodystrophy, congenital generalized, type 1|congenital generalized lipodystrophy type 1|Berardinelli-Seip congenital lipodystrophy type 1|AGPAT2-related Brunzell syndrome|lipodystrophy, Berardinelli-Seip congenital, type 1|CGL1|Berardinelli-Seip congenital lipodystrophy, type 1|Brunzell syndrome, Agpat2-related|congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2|AGPAT2 congenital generalized lipodystrophy (disease) GARD:0000084|ICD10:E88.1|Orphanet:528|OMIM:608594|DOID:0111135 owl:Class HP:0000855 biolink:NamedThing Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. tmpte7i6ely_mondo_relaxed.owl Body fails to respond to insulin MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655 human_phenotype owl:Class MONDO:0004718 biolink:NamedThing xeroderma of eyelid tmpte7i6ely_mondo_relaxed.owl ICD10:H01.14|ICD9:373.33|UMLS:C0155179|DOID:9140|SCTID:55846006 owl:Class NCBITaxon:727 biolink:NamedThing Haemophilus influenzae tmpte7i6ely_mondo_relaxed.owl Bacterium influenzae|Influenza-bacillus|Coccobacillus pfeifferi|Haemophilus meningitidis|Mycobacterium influenzae GC_ID:11 ncbi_taxonomy owl:Class MONDO:0020670 biolink:NamedThing antithrombin deficiency type 2 tmpte7i6ely_mondo_relaxed.owl Inherited antithrombin deficiency type II|antithrombin deficiency type 2|antithrombmin III deficiency Type II 2022-05-01 GARD:0010182|MESH:C537779 Reason: out of scope. Term to consider: heparin cofactor 2 deficiency MONDO:0012876 owl:Class HP:0100529 biolink:NamedThing Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. tmpte7i6ely_mondo_relaxed.owl Abnormality of phosphate homeostasis UMLS:C4022032 doelkens 2010-12-20T11:58:32Z human_phenotype owl:Class MONDO:0032609 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 4 tmpte7i6ely_mondo_relaxed.owl MC1DN4|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 OMIM:618225 owl:Class MONDO:0009100 biolink:NamedThing IDDM 1 tmpte7i6ely_mondo_relaxed.owl juvenile-onset diabetes|IDDM|diabetes mellitus, insulin-dependent, 1|IDDM1|diabetes mellitus, type 1|diabetes mellitus, insulin-dependent|insulin-dependent diabetes mellitus 1 OMIM:222100 owl:Class MONDO:0003973 biolink:NamedThing tubular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. tmpte7i6ely_mondo_relaxed.owl testicular seminoma, tubular variant UMLS:C1515294|NCIT:C40959|DOID:6706 owl:Class NCBITaxon:578835 biolink:NamedThing Rhipicephalus sanguineus group tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002993 biolink:NamedThing pancreatic somatostatinoma A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. tmpte7i6ely_mondo_relaxed.owl pancreatic delta cell somatostatin producing neoplasm|pancreatic somatostatin cell tumor UMLS:C1368041|NCIT:C95595|DOID:4432|EFO:1001964 owl:Class OBO:CARO_0001010 biolink:NamedThing organism or virus or viroid tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032890 biolink:NamedThing neuromuscular disease and ocular or auditory anomalies with or without seizures tmpte7i6ely_mondo_relaxed.owl NMOAS|NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES OMIM:618733 owl:Class MONDO:0021115 biolink:NamedThing luminal B breast carcinoma A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. tmpte7i6ely_mondo_relaxed.owl Luminal B subtype of breast carcinoma|Luminal B breast carcinoma|Luminal B estrogen receptor positive subtype of breast carcinoma|Luminal B|Luminal B breast cancer UMLS:C3642346|NCIT:C53555 owl:Class HGNC:21219 biolink:NamedThing CILK1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008505 biolink:NamedThing surface antigen, glycoprotein 75 tmpte7i6ely_mondo_relaxed.owl surface glycoprotein 75|surface antigen, glycoprotein 75|surface antigen, glycoprotein type 75 OMIM:185540 owl:Class MONDO:0013631 biolink:NamedThing lung cancer susceptibility 5 tmpte7i6ely_mondo_relaxed.owl LNCR5|lung cancer susceptibility 5 OMIM:614210|UMLS:C3280156 owl:Class MONDO:0018848 biolink:NamedThing IgG4-related retroperitoneal fibrosis Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle. tmpte7i6ely_mondo_relaxed.owl Ormond's disease|Ormond disease|idiopathic retroperitoneal fibrosis|retroperitoneal fibrosis ICD10:N13.5|GARD:0009568|Orphanet:49041|MedDRA:10038979|SCTID:197808006|OMIM:228800|MESH:D012185|ICD9:593.4|NCIT:C26876 Editor note: TODO consider splitting out RF as separate term owl:Class HGNC:1014 biolink:NamedThing BCR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000261 biolink:NamedThing adenoiditis An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil. tmpte7i6ely_mondo_relaxed.owl pharyngeal tonsilitis|pharyngeal tonsil inflammation|chronic adenoiditis|inflammation of pharyngeal tonsil SCTID:70020005|UMLS:C0001427|DOID:0050145|ICD9:474.01|ICD10:J35.02|UMLS:C0396023 owl:Class MONDO:0032610 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 5 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5|MC1DN5 OMIM:618226 owl:Class MONDO:0006659 biolink:NamedThing arteriosclerosis obliterans Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension. tmpte7i6ely_mondo_relaxed.owl arteriosclerosis obliterans (disorder) [ambiguous] EFO:1000820|SCTID:361133006|MESH:D001162|MedDRA:10065418|DOID:5160|ICD9:440.8|UMLS:C0003851 owl:Class MONDO:0013105 biolink:NamedThing basal cell carcinoma, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 5|BCC5 OMIM:613062|UMLS:C2751601 owl:Class MONDO:0008105 biolink:NamedThing nose, anomalous shape of tmpte7i6ely_mondo_relaxed.owl nose, anomalous shape of|potato Nose GARD:0010040|MESH:C538354|OMIM:164000 owl:Class MONDO:0011080 biolink:NamedThing progressive deafness with stapes fixation Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). tmpte7i6ely_mondo_relaxed.owl Thies-Reis syndrome|Thies Reis syndrome|Stapedo-vestibular ankylosis|deafness, progressive, with stapes fixation MESH:C563316|OMIM:601449|SCTID:715529009|ICD10:H74.3|GARD:0005170|Orphanet:3235|UMLS:C1832354 https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation owl:Class MONDO:0019791 biolink:NamedThing recessive mitochondrial ataxia syndrome tmpte7i6ely_mondo_relaxed.owl MIRAS UMLS:CN206743|Orphanet:94125|EFO:0008816|ICD10:G11.8 owl:Class GO:0009107 biolink:NamedThing lipoate biosynthetic process The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. tmpte7i6ely_mondo_relaxed.owl lipoic acid anabolism|lipoate biosynthesis|lipoate anabolism|lipoic acid biosynthetic process|lipoate formation|lipoate synthesis|lipoic acid biosynthesis|lipoic acid formation|lipoic acid synthesis owl:Class MONDO:0044700 biolink:NamedThing SIN3A-related intellectual disability syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl Orphanet:500166 owl:Class MONDO:0044873 biolink:NamedThing childhood myelodysplastic syndrome An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. tmpte7i6ely_mondo_relaxed.owl childhood MDS|childhood myelodysplastic syndrome|myelodysplastic syndrome NCIT:C68744 owl:Class ENVO:01001679 biolink:NamedThing fluid front A fluid interface which separates two fluid masses with differing properties. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019411 biolink:NamedThing genochondromatosis type 1 Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course. tmpte7i6ely_mondo_relaxed.owl OMIM:137360|ICD10:Q78.4|UMLS:C1300229|Orphanet:85197 owl:Class HP:0003366 biolink:NamedThing Abnormal femoral neck/head morphology tmpte7i6ely_mondo_relaxed.owl Abnormality of the femoral neck or head region|Abnormal neck or head of thigh bone UMLS:C4025622 human_phenotype owl:Class MONDO:0009300 biolink:NamedThing Perrault syndrome 1 Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene. tmpte7i6ely_mondo_relaxed.owl Perrault syndrome caused by mutation in HSD17B4|ovarian dysgenesis with sensorineural deafness|PRLTS1|Perrault syndrome type 1|gonadal dysgenesis, 20 type, with deafness|HSD17B4 Perrault syndrome|Perrault syndrome 1 OMIM:233400|Orphanet:2855|UMLS:C0685838 owl:Class MONDO:0011030 biolink:NamedThing epithelial basolateral chloride conductance regulator, rabbit, homolog of tmpte7i6ely_mondo_relaxed.owl Ebcr|epithelial basolateral chloride conductance regulator, rabbit, homolog of OMIM:601315 owl:Class MONDO:0002377 biolink:NamedThing breast intracanalicular fibroadenoma A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. tmpte7i6ely_mondo_relaxed.owl intracanalicular fibroadenoma of the breast|intracanalicular fibroadenoma|breast intracanalicular fibroadenoma|intracanalicular fibroadenoma of breast|intracanalicular breast fibroadenoma UMLS:C0334496|DOID:2656|NCIT:C4271|ICDO:9011/0 owl:Class HP:0010311 biolink:NamedThing Aplasia/Hypoplasia of the breasts Absence or underdevelopment of the breasts. tmpte7i6ely_mondo_relaxed.owl Absent/small breasts|Absent/underdeveloped breasts UMLS:C4023911 peter 2009-07-12T02:31:49Z human_phenotype owl:Class HGNC:15971 biolink:NamedThing TSG101 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006992 biolink:NamedThing syphilitic aortitis Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. tmpte7i6ely_mondo_relaxed.owl ICD9:093.1|MedDRA:10042900|UMLS:C0003511|EFO:1001206|ICD10:A52.02|SCTID:20735004 owl:Class MONDO:0007392 biolink:NamedThing coxoauricular syndrome Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. tmpte7i6ely_mondo_relaxed.owl coxoauricular syndrome MESH:C565148|GARD:0001558|Orphanet:1508|ICD10:Q87.1|SCTID:732248005|UMLS:C1852513|OMIM:122780 https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome owl:Class MONDO:0009941 biolink:NamedThing Pygmy tmpte7i6ely_mondo_relaxed.owl Pygmy|Pygmy, African UMLS:C1849524|OMIM:265850 owl:Class MONDO:0010151 biolink:NamedThing tricarboxylic acid cycle, defect of tmpte7i6ely_mondo_relaxed.owl tricarboxylic acid cycle, defect of OMIM:275370|MESH:C564762|UMLS:C1848746 owl:Class GO:0030210 biolink:NamedThing heparin biosynthetic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. tmpte7i6ely_mondo_relaxed.owl heparin biosynthesis|heparin formation|heparin synthesis|heparan sulfate biosynthetic process|heparin anabolism owl:Class MONDO:0000749 biolink:NamedThing breast abscess A breast disease characterized by a collection of pus in the breast. tmpte7i6ely_mondo_relaxed.owl DOID:0060323|UMLS:C0151463|SCTID:28432003 owl:Class MONDO:0014264 biolink:NamedThing otosclerosis 10 tmpte7i6ely_mondo_relaxed.owl otosclerosis 10|OTSC10 OMIM:615589 owl:Class MONDO:0003765 biolink:NamedThing adult leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. tmpte7i6ely_mondo_relaxed.owl adult meningeal melanoma|adult leptomeningeal melanoma|melanoma of adult leptomeninges|melanoma of the adult leptomeninges UMLS:C1332204|NCIT:C5319|DOID:6090 owl:Class NCBITaxon:5014 biolink:NamedThing Dothideales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004886 biolink:NamedThing diffuse secondary choroid atrophy tmpte7i6ely_mondo_relaxed.owl SCTID:193463006|UMLS:C0154892|ICD10:H31.12|DOID:981|ICD9:363.42 owl:Class MONDO:0017729 biolink:NamedThing metachromatic leukodystrophy, late infantile form tmpte7i6ely_mondo_relaxed.owl MLD, late infantile form|arylsulfatase A deficiency, late infantile form Orphanet:309256|ICD10:E75.2 owl:Class GO:0070613 biolink:NamedThing regulation of protein processing Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. tmpte7i6ely_mondo_relaxed.owl regulation of protein maturation by peptide bond cleavage owl:Class UBERON:0003847 biolink:NamedThing thyroid artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012811 biolink:NamedThing aneurysm, intracranial berry, 8 tmpte7i6ely_mondo_relaxed.owl aneurysm, intracranial BERRY, 8|ANIB8 Orphanet:231160|UMLS:C2677336|OMIM:612162|MESH:C567405 owl:Class MONDO:0007090 biolink:NamedThing amastia, bilateral, with ureteral triplication and dysmorphism tmpte7i6ely_mondo_relaxed.owl amastia, bilateral, with ureteral triplication and dysmorphism MESH:C566295|OMIM:104350|UMLS:C1863015 owl:Class MONDO:0011171 biolink:NamedThing odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl Otudp syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type|OTUDP syndrome|ODONTOTRICHOUNGUAL-digital-palmar syndrome SCTID:722063009|MESH:C566598|Orphanet:69082|UMLS:C1865998|OMIM:601957 owl:Class MONDO:0001886 biolink:NamedThing midline cystocele tmpte7i6ely_mondo_relaxed.owl UMLS:C1456248|DOID:14131|ICD10:N81.11|SCTID:423633003|ICD9:618.01 owl:Class MONDO:0044300 biolink:NamedThing familial adenomatous polyposis 4 Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). tmpte7i6ely_mondo_relaxed.owl FAP4|familial adenomatous polyposis type 4|familial adenomatous polyposis 4 OMIM:617100|DOID:0080412 MONDO:0014913 owl:Class MONDO:0012576 biolink:NamedThing supranuclear palsy, progressive, 3 tmpte7i6ely_mondo_relaxed.owl supranuclear palsy, progressive, 3|PSNP3 Orphanet:683|UMLS:C1970476|OMIM:610898|Orphanet:240071|MESH:C567050 owl:Class MONDO:0009020 biolink:NamedThing macular corneal dystrophy Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. tmpte7i6ely_mondo_relaxed.owl macular corneal dystrophy|MCD|macular corneal dystrophy, type 1|macular corneal dystrophy type 1|Mcdc1|corneal dystrophy, macular type|Mcdc1, formerly|Fehr corneal dystrophy|macular dystrophy, corneal|macular dystrophy, corneal, 1|corneal dystrophy Groenouw type II|Groenouw type 2 corneal dystrophy|macular corneal dystrophy, type 2|Groenouw type II corneal dystrophy|macular dystrophy, corneal type 1 SCTID:60258001|ICD9:371.55|OMIM:217800|UMLS:C0024439|MESH:C537834|MESH:D003317|DOID:2565|GARD:0006953|NCIT:C34793|Orphanet:98969|ICD10:H18.5|MedDRA:10025406|ICD10:H18.55 owl:Class MONDO:0015539 biolink:NamedThing progressive nodular histiocytosis Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. tmpte7i6ely_mondo_relaxed.owl Orphanet:158022|SCTID:765141005|ICD10:D76.3 owl:Class MONDO:0012265 biolink:NamedThing preeclampsia/eclampsia 3 tmpte7i6ely_mondo_relaxed.owl PREECLAMPSIA/eclampsia 3|PEE3 UMLS:C1836256|OMIM:609403|Orphanet:275555 owl:Class MONDO:0700039 biolink:NamedThing bladder exstrophy-epispadias-cloacal extrophy complex An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. tmpte7i6ely_mondo_relaxed.owl BEEC UMLS:C1838703|OMIM:600057 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3650 owl:Class MONDO:0021290 biolink:NamedThing carcinoma in situ of appendix A in situ carcinoma that involves the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl vermiform appendix in situ carcinoma|carcinoma in situ of vermiform appendix|stage 0 appendix carcinoma aJCC v7|carcinoma in situ of the appendix|stage 0 appendix cancer|stage 0 appendix carcinoma|stage 0 vermiform appendix carcinoma|vermiform appendix carcinoma in situ NCIT:C4593|UMLS:C0347125|SCTID:92539008 owl:Class GO:0015923 biolink:NamedThing mannosidase activity Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009164 biolink:NamedThing encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts tmpte7i6ely_mondo_relaxed.owl Lyon syndrome|encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts OMIM:225740|MESH:C565596|UMLS:C1856990 owl:Class MONDO:0006312 biolink:NamedThing myofibroma A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. tmpte7i6ely_mondo_relaxed.owl infantile hemangiopericytoma|myofibroma (morphologic abnormality)|lipoleiomyoma|myofibroma UMLS:C1266121|ICDO:8824/0|EFO:1000389|ONCOTREE:MF|DOID:4386|MESH:D047708|NCIT:C7052 owl:Class MONDO:0011410 biolink:NamedThing Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly OMIM:604211|MESH:C565817|UMLS:C1858696 owl:Class MONDO:0001804 biolink:NamedThing anterior scleritis tmpte7i6ely_mondo_relaxed.owl ICD9:379.03|DOID:13794|UMLS:C0155353|SCTID:63454000|ICD10:H15.01 owl:Class MONDO:0007774 biolink:NamedThing hyperreflexia An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. tmpte7i6ely_mondo_relaxed.owl HRX|hyperreflexia|hyperreflexia (disease) hyperreflexia (disease) OMIM:145290|HP:0001347|MESH:D012021 owl:Class CHEBI:35427 biolink:NamedThing ortho-fused polycyclic hydrocarbon tmpte7i6ely_mondo_relaxed.owl ortho-fused polycyclic hydrocarbon|ortho-fused polycyclic hydrocarbons owl:Class MONDO:0017921 biolink:NamedThing hearing loss-familial salivary gland insensitivity to aldosterone syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Tunglang savage Bellman syndrome|Tungland-Bellman syndrome|hearing loss and familial salivary gland insensitivity to aldosterone|hearing loss insensitivity to aldosterone SCTID:716239006|MESH:C536927|GARD:0000422|Orphanet:3225 owl:Class UBERON:0014382 biolink:NamedThing collection of hairs on head or neck tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1133 biolink:NamedThing BTK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006430 biolink:NamedThing splenic mantle cell lymphoma A mantle cell lymphoma occurring in the spleen. tmpte7i6ely_mondo_relaxed.owl splenic mantle cell lymphoma EFO:1000549|UMLS:C2018777|NCIT:C7306 owl:Class MONDO:0000912 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 5 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. tmpte7i6ely_mondo_relaxed.owl neurosensory nonsyndromic recessive deafness 5|autosomal recessive deafness 5|autosomal recessive nonsyndromic deafness 5|deafness, autosomal recessive 5|autosomal recessive nonsyndromic deafness type 5|DFNB5 MESH:C563444|ICD10:H90.3|OMIM:600792|DOID:0110507|UMLS:C1833319 owl:Class MONDO:0019681 biolink:NamedThing juvenile sialidosis type 2 tmpte7i6ely_mondo_relaxed.owl dysmorphic sialidosis, juvenile form SCTID:111383007|UMLS:C0268229|Orphanet:93399|ICD10:E77.1|UMLS:CN206605 owl:Class MONDO:0011325 biolink:NamedThing Fanconi anemia complementation group F Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. tmpte7i6ely_mondo_relaxed.owl Fanconi Anemia, complementation group type F|Fanconi anemia complementation group type F|FANCF|Fanconi anemia complementation group F|Fanconi anemia, complementation group F EFO:0009045|DOID:0111088|NCIT:C125707|OMIM:603467 owl:Class HGNC:10540 biolink:NamedThing SAT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008325 biolink:NamedThing Pseudoatrophoderma colli tmpte7i6ely_mondo_relaxed.owl Pseudoatrophoderma colli MESH:C562909|SCTID:238840009|OMIM:177350|UMLS:C0406561 owl:Class MONDO:0015004 biolink:NamedThing dystonia 28, childhood-onset Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene. tmpte7i6ely_mondo_relaxed.owl DYT28|dystonia 28, childhood-onset|dystonia 28, childhood-onset; DYT28|KMT2B dystonic disorder|dystonic disorder caused by mutation in KMT2B Orphanet:589618|UMLS:C4310633|OMIM:617284 owl:Class MONDO:0006145 biolink:NamedThing chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. tmpte7i6ely_mondo_relaxed.owl chondroid chordoma (morphologic abnormality)|chondroid chordoma ICDO:9371/3|DOID:4152|NCIT:C6902|UMLS:C1266173|EFO:1000174 owl:Class HP:0004327 biolink:NamedThing Abnormal vitreous humor morphology Any structural anomaly of the vitreous body. tmpte7i6ely_mondo_relaxed.owl Abnormal vitreous humour morphology UMLS:C4025356 The vitreous humor is the clear gel that fills the space between the lens and the retina. peter 2008-02-27T04:20:00Z human_phenotype owl:Class MONDO:0013654 biolink:NamedThing aneurysm, intracranial berry, 11 tmpte7i6ely_mondo_relaxed.owl aneurysm, intracranial BERRY, 11|ANIB11 UMLS:C3280275|OMIM:614252|Orphanet:231160 owl:Class CL:0000627 biolink:NamedThing transporting cell A cell involved in transporting nutrients, minerals, water, gases and other chemicals between cells for a variety of purposes including conveying nutrition to other tissues, removing waste products from the tissues, conveying gases for respiration, distributing heat and repelling invasion of foreign substances. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0001645 biolink:NamedThing crescentic glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. tmpte7i6ely_mondo_relaxed.owl crescentic glomerulonephritis|crescentic glomerulonephritis (disease) crescentic glomerulonephritis (disease) HP:0008653|DOID:13139|ICD9:580.4|SCTID:236398000|NCIT:C35444 owl:Class MONDO:0010996 biolink:NamedThing hereditary hemorrhagic telangiectasia type 3 tmpte7i6ely_mondo_relaxed.owl HHT3|Osler Weber Rendu syndrome type 3|telangiectasia hereditary hemorrhagic type 3|telangiectasia, hereditary hemorrhagic, type 3|ORW3 GARD:0009902|MESH:C537140|OMIM:601101|Orphanet:774 https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3 owl:Class MONDO:0013492 biolink:NamedThing alopecia-intellectual disability syndrome 3 tmpte7i6ely_mondo_relaxed.owl alopecia-intellectual disability syndrome 3|APMR3|alopecia-mental retardation syndrome 3 OMIM:613930|UMLS:C3151362|Orphanet:2850 owl:Class MONDO:0008489 biolink:NamedThing sternum, premature obliteration of sutures of tmpte7i6ely_mondo_relaxed.owl sternum, premature obliteration of sutures of OMIM:184800 owl:Class MONDO:0007472 biolink:NamedThing basal laminar drusen A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3. tmpte7i6ely_mondo_relaxed.owl cuticular drusen|drusen of Bruch membrane|basal laminar drusen|drusen, early adult-onset, grouped|drusen, cuticular|early adult-onset grouped drusen OMIM:126700|DOID:0060746|UMLS:C0730295|Orphanet:75376|MESH:C563034|ICD10:H35.5 owl:Class MONDO:0003809 biolink:NamedThing malignant mediastinum hemangiopericytoma A malignant hemangiopericytoma arising in the mediastinum. tmpte7i6ely_mondo_relaxed.owl malignant hemangiopericytoma of the mediastinum|malignant mediastinal hemangiopericytoma|mediastinum spindle cell tumor|malignant hemangiopericytoma of mediastinum|mediastinum hemangiopericytoma UMLS:C1334598|DOID:6209|NCIT:C6608 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0011179 biolink:NamedThing leishmaniasis, tegumentary, susceptibility to tmpte7i6ely_mondo_relaxed.owl leishmaniasis, tegumentary, susceptibility to OMIM:602068 owl:Class MONDO:0009416 biolink:NamedThing hypoinsulinemic hypoglycemia and body hemihypertrophy tmpte7i6ely_mondo_relaxed.owl hypoinsulinemic hypoglycemia with hemihypertrophy|HIHGHH OMIM:240900|UMLS:CN203155|Orphanet:293964 owl:Class UBERON:0008887 biolink:NamedThing rectal venous plexus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014055 biolink:NamedThing epilepsy, familial adult myoclonic, 4 tmpte7i6ely_mondo_relaxed.owl cortical myoclonic tremor with epilepsy, familial, 4|epilepsy, familial ADULT myoclonic, 4|FAME4 OMIM:615127|DOID:0111693|UMLS:C3554560|Orphanet:86814 owl:Class MONDO:0003713 biolink:NamedThing angiokeratoma circumscriptum tmpte7i6ely_mondo_relaxed.owl NCIT:C7751|SCTID:21848000|DOID:5949|UMLS:C0263638 owl:Class MONDO:0008533 biolink:NamedThing teeth, supernumerary An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. tmpte7i6ely_mondo_relaxed.owl teeth, supernumerary SCTID:8666004|MESH:D014096|ICD10:K00.1|OMIM:187100 owl:Class MONDO:0023073 biolink:NamedThing eosinophilic cryptitis Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications. tmpte7i6ely_mondo_relaxed.owl eosinophilic cystitis SCTID:445918001|ICD9:595.89|GARD:0006346|GARD:0006347|UMLS:C0742965 https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis|https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis owl:Class CHEBI:30985 biolink:NamedThing 4,4'-bipyridine A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'. tmpte7i6ely_mondo_relaxed.owl gamma,gamma'-bipyridyl|4,4'-bipyridyl|gamma,gamma'-dipyridyl|4,4'-bipyridine|4,4'-bpy|4,4-Bipyridin|4,4'-dipyridine|4-(4-pyridyl)pyridine|4,4'-dipyridyl owl:Class GO:1904677 biolink:NamedThing positive regulation of somatic stem cell division Any process that activates or increases the frequency, rate or extent of somatic stem cell division. tmpte7i6ely_mondo_relaxed.owl up regulation of somatic stem cell division|positive regulation of somatic stem cell renewal|up-regulation of somatic stem cell division|upregulation of somatic stem cell division|activation of somatic stem cell division|upregulation of somatic stem cell renewal|activation of somatic stem cell renewal|up regulation of somatic stem cell renewal|up-regulation of somatic stem cell renewal owl:Class MONDO:0014148 biolink:NamedThing estrogen resistance syndrome Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. tmpte7i6ely_mondo_relaxed.owl estrogen insensitivity|estrogen resistance|ESTRR SCTID:724555000|UMLS:C3809250|Orphanet:785|EFO:0009042|OMIM:615363 owl:Class GO:1904100 biolink:NamedThing positive regulation of protein O-linked glycosylation Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation. tmpte7i6ely_mondo_relaxed.owl activation of protein O-linked glycosylation|up-regulation of protein O-linked glycosylation|up regulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|upregulation of protein O-linked glycosylation|activation of protein amino acid O-linked glycosylation|up-regulation of protein amino acid O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation owl:Class HP:0001419 biolink:NamedThing X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. tmpte7i6ely_mondo_relaxed.owl X-linked recessive UMLS:C1845977 human_phenotype owl:Class CHEBI:36342 biolink:NamedThing subatomic particle A particle smaller than an atom. tmpte7i6ely_mondo_relaxed.owl subatomic particles owl:Class GO:0031339 biolink:NamedThing negative regulation of vesicle fusion Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion. tmpte7i6ely_mondo_relaxed.owl down regulation of vesicle fusion|down-regulation of vesicle fusion|inhibition of vesicle fusion|downregulation of vesicle fusion owl:Class GO:0090482 biolink:NamedThing vitamin transmembrane transporter activity Enables the transfer of a vitamin from one side of a membrane to the other. tmpte7i6ely_mondo_relaxed.owl vitamin transporter activity|vitamin or cofactor transporter activity owl:Class MONDO:0010697 biolink:NamedThing ophthalmoplegia, external, and myopia tmpte7i6ely_mondo_relaxed.owl myopia-ophthalmoplegia syndrome|OPEM|ophthalmoplegia, external, and myopia OMIM:311000|UMLS:C1839577|MESH:C564087 owl:Class MONDO:0020540 biolink:NamedThing ovarian gynandroblastoma A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both. tmpte7i6ely_mondo_relaxed.owl Gynandroblastoma of ovary|Gynandroblastoma of the ovary|Gynandroblastoma ICDO:8632/1|UMLS:C0346178|ICD10:D40.1|NCIT:C3072|EFO:1000422|UMLS:C0018413|GARD:0009665|ICD10:D39.1|SCTID:254867003|Orphanet:99914 https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma owl:Class MONDO:0006146 biolink:NamedThing chondroid hamartoma A hamartoma that is characterized by the presence of chondroid elements. tmpte7i6ely_mondo_relaxed.owl NCIT:C42589|EFO:1000175|UMLS:C1707390 owl:Class MONDO:0019939 biolink:NamedThing early-onset schizophrenia tmpte7i6ely_mondo_relaxed.owl ICD10:F20.8|Orphanet:96369 owl:Class MONDO:0400003 biolink:NamedThing skeletal fluorosis A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain. tmpte7i6ely_mondo_relaxed.owl fluorosis of the skeleton http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0001914 biolink:NamedThing scleromalacia perforans A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur. tmpte7i6ely_mondo_relaxed.owl ICD9:379.04|SCTID:26664005|DOID:14230|ICD10:H15.05|UMLS:C0155354 owl:Class MONDO:0011401 biolink:NamedThing Alzheimer disease without neurofibrillary tangles tmpte7i6ely_mondo_relaxed.owl Alzheimer disease 15|Alzheimer's disease without neurofibrillary tangles|Alzheimer disease without neurofibrillary tangles|Alzheimer's disease type 15|AD15|Alzheimer's disease 15 DOID:0110048|ICD10:G30|GARD:0007190|UMLS:C1858751|OMIM:611155|MESH:C566998|OMIM:604154|MESH:C536599|UMLS:C1970143 owl:Class HGNC:26559 biolink:NamedThing ZFYVE27 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012315 biolink:NamedThing distal 10q deletion syndrome Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. tmpte7i6ely_mondo_relaxed.owl distal deletion 10q|chromosome 10q26 deletion syndrome|distal monosomy 10q|terminal chromosome 10q26 deletion syndrome|monosomy 10qter|terminal chromosome 10Q26 deletion syndrome|telomeric deletion 10q|deletion 10q|chromosome 10q deletion|10q deletion|distal monosomy type 10q|10q monosomy|partial monosomy 10q|monosomy 10q SCTID:718687003|UMLS:C4305277|GARD:0003711|ICD10:Q93.5|MESH:C567182|OMIM:609625|DOID:0060390|Orphanet:96148|UMLS:C2674937 owl:Class MONDO:0000901 biolink:NamedThing relapsed/refractory diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. tmpte7i6ely_mondo_relaxed.owl DOID:0080192 owl:Class MONDO:0008874 biolink:NamedThing Bangstad syndrome Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. tmpte7i6ely_mondo_relaxed.owl Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency|ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bangstad syndrome GARD:0000812|OMIM:210740|Orphanet:1227|ICD10:E31.8|SCTID:237614004|ICD9:759.89|MESH:C537902|UMLS:C0342284 https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome owl:Class HGNC:6819 biolink:NamedThing MALT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011271 biolink:NamedThing rigid spine muscular dystrophy 1 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. tmpte7i6ely_mondo_relaxed.owl rigid spine syndrome|minicore myopathy, Severe classic form|muscular dystrophy, congenital, Eichsfeld type|classic multiminicore myopathy|RSMD1|severe classic form minicore myopathy|myopathy, Sepn1-related|multiminicore disease, Severe classic form|rigid spine muscular dystrophy type 1|muscular dystrophy, congenital, merosin-positive, with early spine rigidity|congenital merosin-positive muscular dystrophy with early spine rigidity|classic MmD|desmin-related myopathy with Mallory bodies|SELENON rigid spine syndrome|SEPN1-related myopathy|severe classic form multiminicore disease|classic multiminicore disease|severe classic form multicore myopathy|RSS|Eichsfeld type congenital muscular dystrophy|rigid spine muscular dystrophy 1|rigid spine syndrome caused by mutation in SELENON|MDRS1|multicore myopathy, Severe classic form UMLS:C0410180|Orphanet:84132|ICD10:G71.8|Orphanet:97244|MESH:C535683|ICD10:G71.2|NCIT:C126691|Orphanet:598|OMIM:602771|Orphanet:324604|SCTID:240063002|DOID:0110633 owl:Class MONDO:0030034 biolink:NamedThing epilepsy, progressive myoclonic, 11 tmpte7i6ely_mondo_relaxed.owl epilepsy, progressive myoclonic, 11|EPM11|EPILEPSY, PROGRESSIVE MYOCLONIC, 11 OMIM:618876 owl:Class MONDO:0017171 biolink:NamedThing mucopolysaccharidosis type 6, rapidly progressing tmpte7i6ely_mondo_relaxed.owl MPSVI, rapidly progressing|mucopolysaccharidosis type VI, rapidly progressing|arylsulfatase B deficiency, rapidly progressing|MPS6, rapidly progressing ICD10:E76.2|Orphanet:276212|UMLS:CN202600 owl:Class MONDO:0014891 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 4 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. tmpte7i6ely_mondo_relaxed.owl hyperuricemic nephropathy, familial juvenile, type 4|SEC61A1-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1|hyperuricemic nephropathy, familial juvenile, 4|HNFJ4|ADTKD-SEC61A1|hyperuricemic NEPHROPATHY, familial juvenile, 4|SEC61A1 familial juvenile hyperuricemic nephropathy OMIM:617056|UMLS:C4310741 owl:Class MONDO:0019263 biolink:NamedThing autosomal erythropoietic protoporphyria Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. tmpte7i6ely_mondo_relaxed.owl EPP OMIM:177000|MESH:D046351|Orphanet:79278|ICD10:E80.0|MedDRA:10015289 owl:Class MONDO:0024381 biolink:NamedThing circadian rhythm sleep disorder, jet lag type A circadian sleep disorder that results from travelling across time zones. tmpte7i6ely_mondo_relaxed.owl jet lag ICD10:G47.25|UMLS:C0231311 owl:Class GO:2000834 biolink:NamedThing regulation of androgen secretion Any process that modulates the frequency, rate or extent of androgen secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023232 biolink:NamedThing giant cell myocarditis An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available. tmpte7i6ely_mondo_relaxed.owl GCM|giant cell myocarditis|idiopathic giant-cell myocarditis SCTID:60812006|GARD:0006502|UMLS:C0264856|NCIT:C97055 https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis owl:Class NCBITaxon:92860 biolink:NamedThing Pleosporales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:134361|NCBITaxon:371109 ncbi_taxonomy owl:Class NCBITaxon:5758 biolink:NamedThing Entamoeba tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022071 biolink:NamedThing carbon baby syndrome Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. tmpte7i6ely_mondo_relaxed.owl universal acquired melanosis GARD:0001089|SCTID:238700008|UMLS:C0406419 https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome owl:Class GO:0034655 biolink:NamedThing nucleobase-containing compound catabolic process The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids. tmpte7i6ely_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid catabolism|nucleobase, nucleoside, nucleotide and nucleic acid breakdown|nucleobase, nucleoside, nucleotide and nucleic acid degradation|nucleobase, nucleoside, nucleotide and nucleic acid catabolic process owl:Class HGNC:28991 biolink:NamedThing RUBCN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022930 biolink:NamedThing Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia tmpte7i6ely_mondo_relaxed.owl Aughton sloan Milad syndrome GARD:0000137|MESH:C538340|UMLS:C2931823 https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia owl:Class MONDO:0018382 biolink:NamedThing epiphysiolysis of the hip Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). tmpte7i6ely_mondo_relaxed.owl SCFE|epiphysiolysis of the upper femur|SufE|femoral head epiphysiolysis|slipped upper femoral epiphysis|slipped capital femoral epiphysis EFO:1001317|SCTID:26460006|ICD10:M93.9|Orphanet:399329 owl:Class HGNC:25382 biolink:NamedThing TMEM126A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013420 biolink:NamedThing age related macular degeneration 12 Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene. tmpte7i6ely_mondo_relaxed.owl age-related macular degeneration caused by mutation in CX3CR1|macular degeneration, age-related, 12|macular Degeneration, age-related, type 12|CX3CR1 age-related macular degeneration|age related macular degeneration type 12|ARMD12 UMLS:C3151079|DOID:0110024|OMIM:613784 owl:Class MONDO:0005581 biolink:NamedThing AVL induced bursal lymphoma Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds. tmpte7i6ely_mondo_relaxed.owl EFO:0005923 owl:Class MONDO:0007948 biolink:NamedThing marfanoid hypermobility syndrome tmpte7i6ely_mondo_relaxed.owl marfanoid hypermobility syndrome GARD:0003387|UMLS:C0268365|OMIM:154750|MESH:C531742 https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome owl:Class MONDO:0030967 biolink:NamedThing deafness, congenital, and adult-onset progressive leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl DEAPLE OMIM:619196 owl:Class HP:0032039 biolink:NamedThing Abnormality of the ocular adnexa An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpte7i6ely_mondo_relaxed.owl 2018-09-03 00:17:49+00:00 peter human_phenotype owl:Class MONDO:0044776 biolink:NamedThing premature ovarian failure 10 Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488). tmpte7i6ely_mondo_relaxed.owl premature ovarian failure 10|Pof10|menopause, natural, Age At, quantitative trait locus 3 OMIM:612885 owl:Class SO:0001500 biolink:NamedThing heritable_phenotypic_marker A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus. tmpte7i6ely_mondo_relaxed.owl heritable phenotypic marker|phenotypic marker owl:Class SO:0001645 biolink:NamedThing genetic_marker A measurable sequence feature that varies within a population. tmpte7i6ely_mondo_relaxed.owl genetic marker owl:Class MONDO:0015844 biolink:NamedThing agenesis and aplasia of uterine body tmpte7i6ely_mondo_relaxed.owl ICD10:Q51.0|Orphanet:180142 owl:Class MONDO:0015664 biolink:NamedThing idiopathic pulmonary artery dilatation Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases. tmpte7i6ely_mondo_relaxed.owl idiopathic dilatation of the pulmonary artery ICD10:E25.7|GARD:0006757|Orphanet:1676 https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery owl:Class MONDO:0000583 biolink:NamedThing immunoglobulin beta deficiency tmpte7i6ely_mondo_relaxed.owl IgB deficiency MESH:C567200|DOID:0060026|UMLS:C3502055 owl:Class MONDO:0015593 biolink:NamedThing limbic encephalitis with nCMAgs antibodies tmpte7i6ely_mondo_relaxed.owl limbic encephalitis with novel cell membrane antigen antibodies Orphanet:163914|ICD10:G13.1 owl:Class MONDO:0004078 biolink:NamedThing mucinous intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that produces abundant mucin. tmpte7i6ely_mondo_relaxed.owl mucinous intrahepatic cholangiocarcinoma|mucin-producing intrahepatic cholangiocarcinoma UMLS:C1513718|NCIT:C41618|DOID:7024 owl:Class MONDO:0009945 biolink:NamedThing pyridoxine-dependent epilepsy A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). tmpte7i6ely_mondo_relaxed.owl AASA dehydrogenase deficiency|vitamin B6-dependent seizures|pyridoxine dependency with seizures|Epd|pyridoxine-dependent epilepsy|pyridoxine dependency|antiquitin deficiency|epilepsy, pyridoxine-dependent|EPD GARD:0009298|UMLS:CN203406|ICD10:G40.8|UMLS:C1849508|SCTID:734434007|OMIM:266100|OMIM:617290|Orphanet:3006|MESH:C536254 https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy owl:Class MONDO:0032767 biolink:NamedThing paragangliomas 6 tmpte7i6ely_mondo_relaxed.owl PGL6|PARAGANGLIOMAS 6 OMIM:618464 owl:Class ECTO:7000119 biolink:NamedThing exposure to contaminated water A exposure event involving the interaction of an exposure receptor to contaminated water. tmpte7i6ely_mondo_relaxed.owl contaminated water exposure owl:Class GO:0071495 biolink:NamedThing cellular response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013697 biolink:NamedThing intellectual disability, autosomal recessive 29 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 29|MRT29|intellectual disability, autosomal recessive 29 UMLS:C3280525|OMIM:614333 owl:Class MONDO:0013023 biolink:NamedThing orofacial cleft 12 tmpte7i6ely_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 12|OFC12|orofacial cleft 12 MESH:C567548|Orphanet:1991|DOID:0080405|OMIM:612858|UMLS:C2748505 owl:Class MONDO:0011063 biolink:NamedThing hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. tmpte7i6ely_mondo_relaxed.owl Christianson-Fourie syndrome|ectodermal dysplasia, hidrotic, Christianson-Fourie type Orphanet:1808|UMLS:C1832411|GARD:0002682|ICD10:Q82.8|OMIM:601375|MESH:C536180 https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type owl:Class MONDO:0006060 biolink:NamedThing nasopharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the nasopharynx. tmpte7i6ely_mondo_relaxed.owl EFO:1000058 owl:Class MONDO:0002443 biolink:NamedThing bruxism Excessive clenching of the jaw and grinding of the teeth. tmpte7i6ely_mondo_relaxed.owl grinding teeth|bruxism (disease)|teeth grinding|bruxism - teeth grinding|bruxism|sleep related bruxism bruxism (disease) HP:0003763|ICD10:G47.63|DOID:2846|NCIT:C73511|ICD10:F45.8|ICD9:327.53 owl:Class MONDO:0015032 biolink:NamedThing intraneural perineurioma A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells. tmpte7i6ely_mondo_relaxed.owl intraneural perineurioma (WHO grade I)|intraneural perineurioma SCTID:768934004|Orphanet:100003|DOID:4696|NCIT:C6911|UMLS:C1370658|GARD:0010921 https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma owl:Class MONDO:0008308 biolink:NamedThing priapism, familial idiopathic tmpte7i6ely_mondo_relaxed.owl familial idiopathic priapism|priapism, familial idiopathic MESH:C531791|UMLS:C1867771|OMIM:176620|GARD:0010016 owl:Class MONDO:0017864 biolink:NamedThing congenital pulmonary veins atresia or stenosis Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. tmpte7i6ely_mondo_relaxed.owl pulmonary vein stenosis|pulmonary veins stenosis UMLS:C0340756|SCTID:234062003|Orphanet:3188|GARD:0004598|ICD10:Q26.3 owl:Class HGNC:9652 biolink:NamedThing PTPN22 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015422 biolink:NamedThing orofaciodigital syndrome type 13 Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. tmpte7i6ely_mondo_relaxed.owl OFDS 13|Degner syndrome|oral facial digital syndrome 13|oral-facial-digital syndrome 13|orofaciodigital syndrome 13|oral-facial-digital syndrome XIII|OFD13|OFD syndrome 13|orofaciodigital syndrome XIII|oral-facial-digital syndrome type 13|oral facial digital syndrome type 13 MESH:C548035|Orphanet:141330|GARD:0010694|UMLS:C2932680|SCTID:763835004|ICD10:Q87.0 owl:Class HGNC:7326 biolink:NamedThing MSH3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012209 biolink:NamedThing branchiogenic deafness syndrome Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent. tmpte7i6ely_mondo_relaxed.owl BRANCHIOGENIC-deafness syndrome|MC)garbanC)-Loiselet syndrome|Mégarbané-Loiselet syndrome SCTID:717944002|Orphanet:50815|MESH:C563780|ICD10:Q87.0|OMIM:609166|UMLS:C1836673 owl:Class MONDO:0015559 biolink:NamedThing lymphoadenopathic mastocytosis with eosinophilia tmpte7i6ely_mondo_relaxed.owl Orphanet:158793|ICD10:C96.2 owl:Class MONDO:0020333 biolink:NamedThing aggressive systemic mastocytosis Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues. tmpte7i6ely_mondo_relaxed.owl aggressive systemic mastocytosis (morphologic abnormality)|lymphadenopathic mastocytosis with eosinophilia|ASM ONCOTREE:ASM|UMLS:C1112486|ICDO:9741/3|ICD10:C96.2|Orphanet:98850|SCTID:716655008|DOID:4798|NCIT:C9285|MedDRA:10056453 owl:Class GO:0098657 biolink:NamedThing import into cell The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. tmpte7i6ely_mondo_relaxed.owl uptake owl:Class GO:0003690 biolink:NamedThing double-stranded DNA binding Binding to double-stranded DNA. tmpte7i6ely_mondo_relaxed.owl dsDNA binding owl:Class MONDO:0016848 biolink:NamedThing juvenile temporal arteritis Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. tmpte7i6ely_mondo_relaxed.owl juvenile cranial arteritis|juvenile giant cell arteritis|non-giant cell granulomatous temporal arteritis with eosinophilia|JGCA|juvenile polymyalgia rheumatica|JTA|JPMR ICD10:L95.8|SCTID:722020006|GARD:0003068|UMLS:C0751547|Orphanet:26137 https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis owl:Class ECTO:4000032 biolink:NamedThing exposure to decreased water temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water. tmpte7i6ely_mondo_relaxed.owl exposure to decreased amount in temperature of water owl:Class MONDO:0013376 biolink:NamedThing microphthalmia, isolated, with coloboma 6 tmpte7i6ely_mondo_relaxed.owl MCOPCB6|microphthalmia, isolated, with coloboma 6|microphthalmia, isolated, with coloboma type 6 OMIM:613703|UMLS:C3150968|Orphanet:98938 owl:Class UBERON:0001087 biolink:NamedThing pleural fluid tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001145 biolink:NamedThing microbial food product A food product derived from one or more microorganisms including bacteria, mold, and yeast. tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class GO:0010883 biolink:NamedThing regulation of lipid storage Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpte7i6ely_mondo_relaxed.owl regulation of lipid sequestration owl:Class HP:0009714 biolink:NamedThing Abnormality of the epididymis An abnormality of the epididymis. tmpte7i6ely_mondo_relaxed.owl UMLS:C4024222 The epididymis is the structure that connects efferent ductules to vas deferens. peter 2009-01-30T11:44:43Z human_phenotype owl:Class MONDO:0016615 biolink:NamedThing oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies tmpte7i6ely_mondo_relaxed.owl oligoarticular JIA with anti-nuclear antibodies|pauciarticular chronic arthritis with anti-nuclear antibodies ICD10:M08.4|UMLS:CN201823|Orphanet:247839 owl:Class MONDO:0004555 biolink:NamedThing kidney angiomyolipoma An angiomyolipoma arising from the kidney. tmpte7i6ely_mondo_relaxed.owl renal angiomyolipoma|angiomyolipoma of kidney|angiomyolipoma of the kidney|RAML|kidney angiomyolipoma DOID:8411|SCTID:254921004|NCIT:C3888|ONCOTREE:RAML|UMLS:C0241961|EFO:1000312 owl:Class MONDO:0020305 biolink:NamedThing isochromosomy Yq Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. tmpte7i6ely_mondo_relaxed.owl Orphanet:98798|ICD10:Q98.6 owl:Class MONDO:0025491 biolink:NamedThing feline infectious peritonitis Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis. tmpte7i6ely_mondo_relaxed.owl peritonitis, infectious, feline|feline infectious peritonitides|infectious peritonitis, feline|infectious peritonitides, feline|FIP|peritonitis, feline infectious UMLS:C0085306|MESH:D016766 owl:Class MONDO:0019406 biolink:NamedThing craniofacial conodysplasia Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. tmpte7i6ely_mondo_relaxed.owl Orphanet:85168|ICD10:Q87.5 owl:Class MONDO:0017500 biolink:NamedThing congenital absence of both lower leg and foot, unilateral tmpte7i6ely_mondo_relaxed.owl tibiofibular terminal transverse meromelia, unilateral ICD10:Q72.2|Orphanet:295097 owl:Class HGNC:1424 biolink:NamedThing CAD tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:8000019 biolink:NamedThing ontology module subsetted by OWL profile tmpte7i6ely_mondo_relaxed.owl ontology module subsetted by OWL profile owl:Class CHEBI:76837 biolink:NamedThing EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*). tmpte7i6ely_mondo_relaxed.owl EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitors|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitors|EC 1.13.11.* inhibitor|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitor|EC 1.13.11.* inhibitors owl:Class MONDO:0011778 biolink:NamedThing multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl AGBK|multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|AL-Gazali-BAKALINOVA syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|Mmedf|Al-Gazali-Bakalinova syndrome SCTID:719688002|Orphanet:166024|OMIM:607131|ICD10:Q77.3|MESH:C564621 owl:Class MONDO:0005471 biolink:NamedThing neurally mediated hypotension Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal tmpte7i6ely_mondo_relaxed.owl EFO:0005254 owl:Class MONDO:0003678 biolink:NamedThing silent myocardial infarction A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings. tmpte7i6ely_mondo_relaxed.owl silent myocardial infarction DOID:5854|SCTID:233843008|NCIT:C35400|UMLS:C0340324 owl:Class MONDO:0014107 biolink:NamedThing hypogonadotropic hypogonadism 21 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene. tmpte7i6ely_mondo_relaxed.owl hypogonadotropic hypogonadism 21 with or without anosmia|FLRT3 hypogonadotropic hypogonadism|HH21|hypogonadotropic hypogonadism caused by mutation in FLRT3 ICD10:E23.0|DOID:0090093|UMLS:C3808986|Orphanet:478|OMIM:615271 owl:Class UBERON:0034932 biolink:NamedThing epithelium of biliary system tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9475 biolink:NamedThing PRSS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010596 biolink:NamedThing membranoproliferative glomerulonephritis, X-linked tmpte7i6ely_mondo_relaxed.owl Mesangiocapillary glomerulonephritis, X-linked|membranoproliferative glomerulonephritis, X-linked Orphanet:54370|MESH:C564423|UMLS:C1844501|OMIM:305800 owl:Class MONDO:0010489 biolink:NamedThing intellectual disability, X-linked 101 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in MID2|MID2 non-syndromic X-linked intellectual disability|MRX101|intellectual disability, X-linked type 101|mental retardation, X-linked 101|intellectual disability, X-linked 101|mental retardation, X-linked type 101 UMLS:C3890168|OMIM:300928 owl:Class MONDO:0034041 biolink:NamedThing congenital axonal neuropathy with encephalopathy A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. tmpte7i6ely_mondo_relaxed.owl Orphanet:538101 owl:Class HGNC:2771 biolink:NamedThing CFD tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000007 biolink:NamedThing mouth movement The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC] tmpte7i6ely_mondo_relaxed.owl other moved mouth parts|mouth part movement owl:Class MONDO:0001742 biolink:NamedThing interval angle-closure glaucoma tmpte7i6ely_mondo_relaxed.owl intermittent angle-closure glaucoma|angle-closure glaucoma, subacute|prodromal angle closure glaucoma ICD9:365.21|DOID:13549|SCTID:65460003|UMLS:C0154945|ICD10:H40.23 owl:Class MONDO:0004477 biolink:NamedThing adrenal gland ganglioneuroblastoma A ganglioneuroblastoma arising from the adrenal gland. tmpte7i6ely_mondo_relaxed.owl adrenal gland ganglioneuroblastoma|ganglioneuroblastoma (disease) of adrenal gland|adrenal ganglioneuroblastoma|adrenal gland ganglioneuroblastoma (disease) NCIT:C7646|UMLS:C1332176|DOID:8140 owl:Class MONDO:0007338 biolink:NamedThing cleft soft palate Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. tmpte7i6ely_mondo_relaxed.owl cleft soft palate|soft cleft palate|cleft velum|cleft velum palatinum ICD10:Q35.3|Orphanet:99772|DOID:0110214|SCTID:253997002|MESH:C562950|OMIM:119570 owl:Class MONDO:0011189 biolink:NamedThing arrhythmogenic right ventricular dysplasia 4 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 4|ARVD4|ARVC4|arrhythmogenic right ventricular dysplasia type 4|arrhythmogenic right ventricular cardiomyopathy 4|fanilial arrhythmogenic right ventricular dysplasia 4 Orphanet:217656|ICD10:I42.8|OMIM:602087|UMLS:C1865881|MESH:C566583|DOID:0110073 owl:Class MONDO:0011253 biolink:NamedThing craniomicromelic syndrome Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly. tmpte7i6ely_mondo_relaxed.owl craniomicromelic syndrome GARD:0001583|SCTID:725098001|MESH:C566522|ICD10:Q87.0|UMLS:C1865184|Orphanet:1524|OMIM:602558 https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome owl:Class MONDO:0004458 biolink:NamedThing bladder mixed adenocarcinoma tmpte7i6ely_mondo_relaxed.owl UMLS:C1511192|DOID:8096|NCIT:C39839 owl:Class MONDO:0100029 biolink:NamedThing antibody mediated epilepsy An immune epilepsy where the underlying cause is antibody mediated. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 00:52:42+00:00 owl:Class MONDO:0008971 biolink:NamedThing chondrodysplasia calcificans Metaphysealis tmpte7i6ely_mondo_relaxed.owl chondrodysplasia calcificans Metaphysealis OMIM:215050|MESH:C565855|GARD:0010613|UMLS:C1859147 https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis owl:Class MONDO:0010342 biolink:NamedThing autism, susceptibility to, X-linked 3 tmpte7i6ely_mondo_relaxed.owl AUTSX3|autism, susceptibility to, X-linked type 3|susceptibility to X-linked autism 3|autism, susceptibility to, X-linked 3 OMIM:300496 owl:Class MONDO:0024489 biolink:NamedThing general tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. tmpte7i6ely_mondo_relaxed.owl disease grade qualifier NCIT:C28076 owl:Class MONDO:0024488 biolink:NamedThing tumor grading characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019892 biolink:NamedThing distal monosomy 7p tmpte7i6ely_mondo_relaxed.owl telomeric deletion 7p|distal monosomy type 7p|distal deletion 7p|monosomy 7pter ICD10:Q93.5|Orphanet:96126 owl:Class MONDO:0016889 biolink:NamedThing partial deletion of the short arm of chromosome 7 Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl 7p deletion|partial deletion of the short arm of chromosome type 7|monosomy 7p|partial monosomy of the short arm of chromosome 7|partial monosomy of chromosome 7p|partial deletion of chromosome 7p|deletion 7p|partial monosomy 7p|chromosome 7p deletion|7p monosomy Orphanet:261911|ICD10:Q93.5|GARD:0001346 owl:Class MONDO:0012727 biolink:NamedThing mucocutaneous lymph node syndrome Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. tmpte7i6ely_mondo_relaxed.owl acute febrile mucocutaneous lymph node syndrome [MCLS]|infantile polyarteritis nodosa|Kd|Kawasaki's disease|Kawasaki disease|acute febrile mucocutaneous lymph node syndrome|infantile polyarteritis|mucocutaneous lymph node syndrome|MLNS|acute febrile MCLS|Kawasaki syndrome NCIT:C34825|GARD:0006816|OMIM:611775|SCTID:75053002|Orphanet:2331|MESH:D009080|EFO:0004246|ICD10:M30.3|DOID:13378|ICD9:446.1|UMLS:C0026691|MedDRA:10023320 owl:Class MONDO:0009392 biolink:NamedThing hyperopia, high tmpte7i6ely_mondo_relaxed.owl hyperopia, high OMIM:238950|MESH:C565497 owl:Class MONDO:0001916 biolink:NamedThing gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. tmpte7i6ely_mondo_relaxed.owl enteric tularemia|intestinal tularaemia ICD10:A21.3|ICD9:021.8|DOID:14239|ICD9:021.1 owl:Class GO:0003015 biolink:NamedThing heart process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpte7i6ely_mondo_relaxed.owl cardiac process owl:Class HP:0100035 biolink:NamedThing Phonic tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. tmpte7i6ely_mondo_relaxed.owl Vocal tics|Verbal tics UMLS:C0751901|MSH:D020323 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class FOODON:03315468 biolink:NamedThing shellfish meat (whole or parts) tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F15468 SIREN DB annotation: * has quality 'solid' (http://purl.obolibrary.org/obo/FOODON_03430151) * derives from 'meat part of animal' (http://purl.obolibrary.org/obo/FOODON_03420103) http://langual.org subset_siren owl:Class SO:0001254 biolink:NamedThing polyploid A kind of chromosome variation where the chromosome complement is an exact multiple of the haploid number and is greater than the diploid number. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:216285 biolink:NamedThing Trochoidea tmpte7i6ely_mondo_relaxed.owl Trochoidea|Phasianelloidea|Turbinoidea GC_ID:1 NCBITaxon:1756885|NCBITaxon:479458 ncbi_taxonomy owl:Class MONDO:0019946 biolink:NamedThing ligneous conjunctivitis Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia. tmpte7i6ely_mondo_relaxed.owl conjunctivitis lignosa GARD:0006187|Orphanet:97231|MedDRA:10071570|ICD9:372.39|OMIM:217090|SCTID:403435005|UMLS:C1274789|ICD10:H10.4 owl:Class MONDO:0011040 biolink:NamedThing spinal dysplasia, Anhalt type tmpte7i6ely_mondo_relaxed.owl spinal dysplasia, Anhalt type MESH:C563348|UMLS:C1832464|OMIM:601344 owl:Class MONDO:0011799 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 33 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 33|autosomal recessive nonsyndromic deafness type 33|autosomal recessive deafness 33|DFNB33|deafness, autosomal recessive 33 OMIM:607239|UMLS:C1846576|ICD10:H90.3|MESH:C564602|DOID:0110492 owl:Class MONDO:0007302 biolink:NamedThing cervical hypertrichosis with underlying kyphoscoliosis tmpte7i6ely_mondo_relaxed.owl hypertrichosis, posterior cervical, with underlying kyphoscoliosis|cervical hypertrichosis with underlying kyphoscoliosis UMLS:C1861695|OMIM:117850|MESH:C566142 owl:Class MONDO:0010799 biolink:NamedThing deafness, aminoglycoside-induced tmpte7i6ely_mondo_relaxed.owl deafness, streptomycin-induced|mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|aminoglycoside-induced hearing loss|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|aminoglycoside-induced deafness|deafness, aminoglycoside-induced|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|streptomycin ototoxicity|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure UMLS:C1838854|DOID:0111734|MESH:C564013|OMIM:580000|Orphanet:168609 owl:Class MONDO:0003747 biolink:NamedThing telangiectatic glomangioma A glomus tumor characterized by huge vascular channel formations. tmpte7i6ely_mondo_relaxed.owl telangiectatic glomangioma UMLS:C1336699|NCIT:C5345|DOID:6048 owl:Class HGNC:7493 biolink:NamedThing MT-TN tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5p13 biolink:NamedThing 5p13 (Human) tmpte7i6ely_mondo_relaxed.owl 42500000 28900000 hg38 owl:Class MONDO:0019761 biolink:NamedThing laryngotracheoesophageal cleft type 1 Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. tmpte7i6ely_mondo_relaxed.owl LTEC1|laryngo-tracheo-esophageal cleft type 1|LTEC I Orphanet:93938|ICD10:Q32.1|UMLS:CN206696 owl:Class UBERON:0035838 biolink:NamedThing esophagogastric junction mucosa tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009912 biolink:NamedThing prolactin deficiency with obesity and enlarged testes tmpte7i6ely_mondo_relaxed.owl prolactin deficiency with obesity and enlarged testes|PRL deficiency with obesity and enlarged testes OMIM:264120|MESH:C564870|UMLS:C1849698 owl:Class MONDO:0012891 biolink:NamedThing pontocerebellar hypoplasia type 2C Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene. tmpte7i6ely_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34|pontocerebellar hypoplasia, type 2C|TSEN34 non-syndromic pontocerebellar hypoplasia|PCH2C OMIM:612390|DOID:0060269|MESH:C567324|Orphanet:2524|UMLS:C2676465 owl:Class MONDO:0010227 biolink:NamedThing retinitis pigmentosa 3 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene. tmpte7i6ely_mondo_relaxed.owl RPGR retinitis pigmentosa|retinitis pigmentosa 15|cone-rod Degeneration, X-linked|retinitis pigmentosa caused by mutation in RPGR|retinitis pigmentosa 3|retinitis pigmentosa type 3|Choroidoretinal Degeneration with retinal reflex in heterozygous Women|RP3 DOID:0110414|UMLS:C1845667|MESH:C564520|ICD10:H35.5|OMIM:300029|Orphanet:791|GARD:0010381 owl:Class HP:0010993 biolink:NamedThing Abnormality of the cerebral subcortex An abnormality of the cerebral subcortex. tmpte7i6ely_mondo_relaxed.owl Abnormality of the cerebral medulla UMLS:C4021207 The cerebral subcortex contains the basal ganglia and the cerebral white matter. peter 2011-02-09T10:32:54Z human_phenotype owl:Class CHEBI:76740 biolink:NamedThing EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*. tmpte7i6ely_mondo_relaxed.owl oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitors|EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitor|EC 1.13.* inhibitor|EC 1.13.* inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitor owl:Class MONDO:0012502 biolink:NamedThing normophosphatemic familial tumoral calcinosis tmpte7i6ely_mondo_relaxed.owl familial normophosphatemic tumoral calcinosis|NFTC|tumoral calcinosis, normophosphatemic, familial|normophosphatemic familial tumoral calcinosis|calcinosis, tumoral, with Normophosphatemia MESH:C566473|DOID:0080170|ICD10:M11.2|Orphanet:53715|OMIM:610455|Orphanet:306658|GARD:0010878 https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis owl:Class MONDO:0010163 biolink:NamedThing Tyrosinosis tmpte7i6ely_mondo_relaxed.owl Tyrosinosis SCTID:57414003|OMIM:276800|UMLS:C0268484|MESH:C562659|ICD9:270.2 owl:Class MONDO:0022575 biolink:NamedThing biliary hypoplasia A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts. tmpte7i6ely_mondo_relaxed.owl GARD:0008383 Editor note: consider making this a finding https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia owl:Class MONDO:0008888 biolink:NamedThing Williams-Campbell syndrome tmpte7i6ely_mondo_relaxed.owl tracheobronchomalacia|BRONCHOMALACIA|Williams-Campbell syndrome ICD10:Q33.4|OMIM:211450|GARD:0007791|ICD9:748.3|Orphanet:411501|SCTID:54203008 owl:Class MONDO:0007054 biolink:NamedThing acromial dimples tmpte7i6ely_mondo_relaxed.owl supraspinous fossae, congenital|acromial dimples UMLS:C1863321|OMIM:102350 owl:Class NCBITaxon:649188 biolink:NamedThing Lujo mammarenavirus tmpte7i6ely_mondo_relaxed.owl Lujo virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006483 biolink:NamedThing urothelial dysplasia A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract. tmpte7i6ely_mondo_relaxed.owl urothelial dysplasia|transitional cell dysplasia of the urinary tract NCIT:C39856|UMLS:C1275859|EFO:1000611 This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future. owl:Class MONDO:0004400 biolink:NamedThing malignant type A thymoma A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. tmpte7i6ely_mondo_relaxed.owl malignant type A thymoma|thymoma, medullary, malignant NCIT:C7999|ICDO:8581/3|DOID:7927|UMLS:C0279707 owl:Class PATO:0002143 biolink:NamedThing sloped downward tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009840 biolink:NamedThing Partington-Anderson syndrome tmpte7i6ely_mondo_relaxed.owl Partington-Anderson syndrome MESH:C536299|UMLS:C1850075|OMIM:260555|Orphanet:2829|UMLS:CN202825 owl:Class HGNC:7159 biolink:NamedThing MMP13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005891 biolink:NamedThing ostertagiasis A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. tmpte7i6ely_mondo_relaxed.owl DOID:3985|EFO:0007414|MESH:D010029|UMLS:C0029471 owl:Class MONDO:0007971 biolink:NamedThing delayed membranous cranial ossification Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. tmpte7i6ely_mondo_relaxed.owl Gonzales-del Angel syndrome|membranous cranial ossification, delayed ICD10:Q75.8|GARD:0001727|SCTID:715524004|MESH:C563592|UMLS:C1835030|OMIM:155980|Orphanet:3034 https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification owl:Class CHEBI:33890 biolink:NamedThing cobalt coordination entity tmpte7i6ely_mondo_relaxed.owl cobalt coordination entity|cobalt coordination compounds|cobalt coordination entities owl:Class MONDO:0100399 biolink:NamedThing acute myeloid leukemia, t(3;3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(3;3)(q21.3;q26.2)|AML, t(3;3)(q26;q21)|AML, t(3;3)(q21;q26.2)|AML, t(3;3)(q21.3q26.2) NCIT:C122717|NCIT:C36406 owl:Class GO:1990580 biolink:NamedThing regulation of cytoplasmic translational termination Any process that modulates the frequency, rate or extent of cytoplasmic translational termination. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018009 biolink:NamedThing non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. tmpte7i6ely_mondo_relaxed.owl hypertrophic gastropathy without hypoproteinemia ICD10:K29.6|Orphanet:329883 owl:Class MONDO:0003325 biolink:NamedThing nodular ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. tmpte7i6ely_mondo_relaxed.owl ganglioneuroblastoma, nodular DOID:5193|NCIT:C42058|UMLS:C1517445 owl:Class NCBITaxon:629 biolink:NamedThing Yersinia tmpte7i6ely_mondo_relaxed.owl Yersinia GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012015 biolink:NamedThing nystagmus 3, congenital, autosomal dominant tmpte7i6ely_mondo_relaxed.owl NYSTAGMUS 3, congenital, autosomal dominant|NYS3 GARD:0009600|MESH:C537855|OMIM:608345|UMLS:C1842186 owl:Class MONDO:0009126 biolink:NamedThing duodenal atresia Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. tmpte7i6ely_mondo_relaxed.owl duodenal atresia (disease)|atresia of duodenum|duodenal atresia|congenital duodenal atresia|congenital atresia of duodenum|duodenal stenosis duodenal atresia (disease) NCIT:C101025|GARD:0000054|SCTID:51118003|MESH:C535720|MedDRA:10013812|ICD9:751.1|OMIM:223400|DOID:0080216|Orphanet:1203|ICD10:Q41.0|HP:0002247|UMLS:C0266174 owl:Class HP:0011008 biolink:NamedThing Temporal pattern The speed at which disease manifestations appear and develop. tmpte7i6ely_mondo_relaxed.owl Speed of onset UMLS:C4021204 peter 2011-02-20T10:22:32Z human_phenotype owl:Class MONDO:0019879 biolink:NamedThing distal trisomy 4q Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. tmpte7i6ely_mondo_relaxed.owl distal trisomy type 4q|telomeric duplication 4q|trisomy 4qter|distal duplication 4q ICD10:Q92.3|Orphanet:96096|SCTID:763273008 owl:Class CL:0002341 biolink:NamedThing basal cell of prostate epithelium An undifferentiated cell of the prostate epithelium that lacks secretory activity. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-20T03:34:10Z cell owl:Class MONDO:0010091 biolink:NamedThing Cold-induced sweating syndrome 1 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. tmpte7i6ely_mondo_relaxed.owl CISS1|CRISPONI/cold-induced sweating syndrome 1|cold-induced sweating syndrome 1|cold-induced sweating syndrome type 1|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|Crisponi/cold-induced sweating syndrome 1|Crisponi syndrome|Sohar-Crisponi syndrome MESH:C536214|Orphanet:1545|ICD10:G90.8|DOID:0080329|GARD:0001611|Orphanet:157820|OMIM:272430|SCTID:725097006 owl:Class MONDO:0003087 biolink:NamedThing mucoepidermoid breast carcinoma A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. tmpte7i6ely_mondo_relaxed.owl breast mucoepidermoid carcinoma|mucoepidermoid carcinoma of breast|mucoepidermoid carcinoma of the breast|mucoepidermoid breast carcinoma DOID:4679|UMLS:C1334813|NCIT:C5166 owl:Class MONDO:0033560 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 35 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35|MC1DN35 OMIM:619003 owl:Class MONDO:0012594 biolink:NamedThing complement factor I deficiency tmpte7i6ely_mondo_relaxed.owl complement Factor 1 deficiency|immunodeficiency with factor I anomaly|complement component 3 inactivator deficiency|CFID|C3 inactivator deficiency|complement factor I deficiency MESH:C572568|Orphanet:200418|UMLS:C3463916|ICD10:D84.1|DOID:0050419|OMIM:610984 owl:Class MONDO:0024316 biolink:NamedThing physiological malfunction arising from mental factor A dysfunction in biological function that is due to a psychological process. tmpte7i6ely_mondo_relaxed.owl physiological malfunction arising from mental Factor NCIT:C35186|UMLS:C0154548 owl:Class MONDO:0054761 biolink:NamedThing microcephaly 20, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl microcephaly 20, PRIMARY, autosomal recessive|MCPH20 OMIM:617914 owl:Class MONDO:0011952 biolink:NamedThing amyotrophic lateral sclerosis type 7 tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis 7|ALS7 OMIM:608031|UMLS:C1842674|MESH:C564300|GARD:0010500|Orphanet:803|DOID:0060199 https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7 owl:Class MONDO:0001771 biolink:NamedThing infective urethral stricture tmpte7i6ely_mondo_relaxed.owl ICD9:136.9|ICD9:598.01|SCTID:80375002|ICD9:598.00|DOID:13658 owl:Class MONDO:0002127 biolink:NamedThing urethral stricture Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. tmpte7i6ely_mondo_relaxed.owl urethral stricture|urethral stricture (disease) urethral stricture (disease) HP:0012227|ICD9:598.8|UMLS:C0041974|MESH:D014525|ICD9:598.9|DOID:1829|SCTID:76618002 owl:Class GO:0016854 biolink:NamedThing racemase and epimerase activity Catalysis of a reaction that alters the configuration of one or more chiral centers in a molecule. tmpte7i6ely_mondo_relaxed.owl racemase and epimerase activity, acting on other compounds owl:Class MONDO:0002449 biolink:NamedThing nodular degeneration of cornea tmpte7i6ely_mondo_relaxed.owl SCTID:72620002|UMLS:C0155122|DOID:2879|ICD9:371.46|ICD10:H18.45 owl:Class CL:0002101 biolink:NamedThing CD38-positive naive B cell A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpte7i6ely_mondo_relaxed.owl CD38-positive naive B-cell|CD38-positive naive B-lymphocyte|CD38+ naive B lymphocyte|CD38+ naive B cell|CD38+ naive B-lymphocyte|CD38-positive naive B lymphocyte|CD38+ naive B-cell cell owl:Class HGNC:6404 biolink:NamedThing KPTN tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6683 biolink:NamedThing Decapoda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012458 biolink:NamedThing hypertension, essential, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl hypertension, essential, susceptibility to, type 5|hypertension, essential, body Mass-related|Hyt5|hypertension, essential, susceptibility to, 5 OMIM:610261 owl:Class MONDO:0019419 biolink:NamedThing X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome. tmpte7i6ely_mondo_relaxed.owl Johnson syndrome Orphanet:85320|UMLS:CN206174|SCTID:719825000|ICD10:Q87.8 owl:Class UBERON:0019241 biolink:NamedThing pedal digit 1 or 5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100115 biolink:NamedThing acute flaccid myelitis An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. tmpte7i6ely_mondo_relaxed.owl AFM NCIT:C128379 owl:Class MONDO:0002496 biolink:NamedThing submucosal invasive colon adenocarcinoma An adenocarcinoma of the colon that has invaded into the submucosa. tmpte7i6ely_mondo_relaxed.owl submucosal invasive colon adenocarcinoma UMLS:C1515024|DOID:3038|NCIT:C38760 owl:Class NCBITaxon:779 biolink:NamedThing Ehrlichia ruminantium tmpte7i6ely_mondo_relaxed.owl Kurlovia ruminantium|Cowdria ruminantium|Nicollea ruminantium|heartwater rickettsia|Rickettsia ruminantium PMID:11760958|GC_ID:11|PMID:1581187|PMID:11414267|PMID:1380292 ncbi_taxonomy owl:Class MONDO:0002803 biolink:NamedThing intestinal pseudo-obstruction Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate. tmpte7i6ely_mondo_relaxed.owl intestine pseudoobstruction|intestinal pseudoobstruction|intestinal pseudo-obstruction|pseudo-obstruction of intestine|hollow visceral myopathy MESH:D007418|ICD9:569.89|EFO:1000988|GARD:0006789|DOID:3878|NCIT:C34733|SCTID:235825006 https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction owl:Class MONDO:0006569 biolink:NamedThing leg dermatosis A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) tmpte7i6ely_mondo_relaxed.owl MESH:D007868|DOID:3142|EFO:1000723|UMLS:C0023219 owl:Class MONDO:0009128 biolink:NamedThing dwarfism, intellectual disability, and eye abnormality tmpte7i6ely_mondo_relaxed.owl dwarfism, mental retardation, and eye abnormality|Mollica syndrome|dwarfism, intellectual disability, and eye abnormality UMLS:C0796076|MESH:C535809|Orphanet:2650|OMIM:223540 owl:Class MONDO:0008106 biolink:NamedThing nystagmus 2, congenital, autosomal dominant tmpte7i6ely_mondo_relaxed.owl NYS2|Nystagmus, congenital motor, 2|NYSTAGMUS 2, congenital, autosomal dominant|Nystagmus congenital, motor 2 MESH:C537854|GARD:0009599|OMIM:164100 owl:Class MONDO:0001990 biolink:NamedThing malignant cardiac peripheral nerve sheath neoplasm A very rare malignant peripheral nerve sheath tumor that arises from the heart. tmpte7i6ely_mondo_relaxed.owl CARDIAC schwannoma, malignant|malignant schwannoma of heart|malignant Cardiac peripheral nerve sheath tumor|malignant Cardiac neurilemmoma|Cardiac MPNST|malignant neurilemmoma of heart|malignant peripheral nerve sheath neoplasm of heart|malignant Cardiac schwannoma|malignant peripheral nerve sheath tumor of heart|malignant neurilemmoma of the heart|heart malignant peripheral nerve sheath tumor|malignant heart peripheral nerve sheath neoplasm|malignant Cardiac peripheral nerve sheath neoplasm|malignant schwannoma of the heart|malignant heart peripheral nerve sheath tumor|MPNST of the heart|malignant heart neurilemmoma|heart MPNST|Cardiac malignant peripheral nerve sheath tumor|malignant peripheral nerve sheath neoplasm of the heart|MPNST of heart|malignant peripheral nerve sheath tumor of the heart|malignant heart schwannoma UMLS:C1334569|NCIT:C5367|DOID:14534 owl:Class GO:0097530 biolink:NamedThing granulocyte migration The movement of a granulocyte within or between different tissues and organs of the body. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044763 biolink:NamedThing diarrheal disease secondary to decreased bowel motility A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion. tmpte7i6ely_mondo_relaxed.owl diarrhea from decreased bowel motility owl:Class MONDO:0017997 biolink:NamedThing telecanthus-hypertelorism-strabismus-pes cavus syndrome Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. tmpte7i6ely_mondo_relaxed.owl Orphanet:3293|UMLS:CN204205 owl:Class MONDO:0030065 biolink:NamedThing agenesis of corpus callosum, cardiac, ocular, and genital syndrome tmpte7i6ely_mondo_relaxed.owl ACOGS|agenesis of corpus callosum, cardiac, ocular, and genital syndrome|AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME OMIM:618929 owl:Class MONDO:0018485 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. tmpte7i6ely_mondo_relaxed.owl GSD type 2, late-onset|glycogen storage disease type II, late-onset|glycogenosis type 2, late-onset|GSD type 2, late onset|GSD type II, late onset|GSD due to acid maltase deficiency, late-onset|Pompe disease, late onset|Alpha-1,4-glucosidase acid deficiency, late onset|glycogenosis type II, late-onset|glycogen storage disease type 2, late onset|glycogen storage disease type 2, late-onset|glycogenosis type 2, late onset|Pompe disease, late-onset|Alpha-1,4-glucosidase acid deficiency, late-onset|GSD due to acid maltase deficiency, late onset|glycogen storage disease type II, late onset|glycogenosis type II, late onset|GSD type II, late-onset ICD10:E74.0|UMLS:C3888925|SCTID:722343009|UMLS:C0342753|Orphanet:420429 owl:Class MONDO:0006790 biolink:NamedThing hypercementosis A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl cementation hyperplasia MESH:D006936|MedDRA:10020596|ICD10:K03.4|EFO:1000970|ICD9:521.5|DOID:12733|UMLS:C0020441|GARD:0006692|SCTID:78537008 https://rarediseases.info.nih.gov/diseases/6692/hypercementosis owl:Class MONDO:0041093 biolink:NamedThing central retinal vein occlusion with macular edema tmpte7i6ely_mondo_relaxed.owl central retinal vein occlusion with macular edema SCTID:232039004 owl:Class MONDO:0004854 biolink:NamedThing ophthalmia neonatorum Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. tmpte7i6ely_mondo_relaxed.owl neonatal conjunctivitis|gonococcal conjunctivitis (neonatorum)|gonococcal ophthalmia neonatorum NCIT:C116815|SCTID:34298002|MESH:D009878|ICD10:P39.1|UMLS:C0029076|ICD9:771.6|DOID:9699 owl:Class MONDO:0008654 biolink:NamedThing nystagmus 4, congenital, autosomal dominant tmpte7i6ely_mondo_relaxed.owl vestibulocerebellar disorder with predominant ocular signs|NYS4|NYSTAGMUS 4, congenital, autosomal dominant OMIM:193003|MESH:C537856|GARD:0009603 owl:Class MONDO:0008577 biolink:NamedThing toe, misshapen tmpte7i6ely_mondo_relaxed.owl toe, misshapen OMIM:189100 owl:Class MONDO:0016672 biolink:NamedThing hereditary persistence of fetal hemoglobin-sickle cell disease syndrome tmpte7i6ely_mondo_relaxed.owl HPFH-sickle cell disease syndrome Orphanet:251380|HGNC:5153|OMIM:141749|OMIM:142470|ICD10:D57.2|HGNC:3627|UMLS:CN201912|OMIM:613566 owl:Class HP:0002438 biolink:NamedThing Cerebellar malformation tmpte7i6ely_mondo_relaxed.owl UMLS:C4025708 human_phenotype owl:Class MONDO:0006579 biolink:NamedThing melanoacanthoma A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. tmpte7i6ely_mondo_relaxed.owl SCTID:394727000|NCIT:C27548|EFO:1000733|UMLS:C1321683|Wikipedia:Melanocanthoma|DOID:11684 owl:Class MONDO:0008451 biolink:NamedThing neuronopathy, distal hereditary motor, type 1 An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration. tmpte7i6ely_mondo_relaxed.owl HMN 1|Charcot-Marie-Tooth disease, spinal, 1|dHMN1|Charcot-Marie-Tooth disease, spinal, I|HMN1|spinal muscular atrophy, distal, juvenile, autosomal dominant, 1|distal hereditary motor neuronopathy type I|autosomal dominant distal juvenile spinal muscular atrophy type 1|neuronopathy, distal hereditary motor, type I|neuropathy, distal hereditary motor, type 1 OMIM:182960|ICD10:G12.2|Orphanet:139518|NCIT:C132826|DOID:0111200|UMLS:C1866784|MESH:C566675 owl:Class MONDO:0004000 biolink:NamedThing childhood pilocytic astrocytoma A pilocytic astrocytoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood pilocytic astrocytoma|pediatric pilocytic astrocytoma|pilocytic astrocytoma of childhood|pilocytic astrocytoma NCIT:C4048|DOID:6812|UMLS:C1332995 owl:Class MONDO:0011608 biolink:NamedThing atopic dermatitis 5 An atopic dermatitis associated with variation in the region 13q12-q14. tmpte7i6ely_mondo_relaxed.owl ATOD5|dermatitis, ATOPIC, 5|atopic dermatitis type 5 OMIM:605844|MESH:C565280|DOID:0110101|UMLS:C1853900 owl:Class MONDO:0011523 biolink:NamedThing Bardet-Biedl syndrome 6 tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome type 6|Bardet-Biedl syndrome 6|BBS6 MESH:C565738|ICD10:Q87.89|DOID:0110128|Orphanet:110|OMIM:605231|UMLS:C1858054|OMIM:209900|GARD:0010205 https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6 owl:Class GO:1903566 biolink:NamedThing positive regulation of protein localization to cilium Any process that activates or increases the frequency, rate or extent of protein localization to cilium. tmpte7i6ely_mondo_relaxed.owl up regulation of protein localization to cilium|upregulation of protein localization to cilium|activation of protein localization to cilium|up-regulation of protein localization to cilium owl:Class MONDO:0012826 biolink:NamedThing scoliosis, isolated, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl IS4|scoliosis, isolated, susceptibility to, 4 OMIM:612238 owl:Class HGNC:6156 biolink:NamedThing ITGB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001819 biolink:NamedThing multiple cranial nerve palsy tmpte7i6ely_mondo_relaxed.owl multiple cranial nerve palsies DOID:13866|ICD9:352.6|SCTID:78152008|ICD10:G52.7|UMLS:C0154733 owl:Class HGNC:7436 biolink:NamedThing MTHFR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009501 biolink:NamedThing metabolic myopathy due to lactate transporter defect Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. tmpte7i6ely_mondo_relaxed.owl lactate transporter defect, myopathy due to|erythrocyte lactate transporter defect OMIM:245340|SCTID:766715000|UMLS:C1855577|Orphanet:171690|ICD10:G72.8|MESH:C565449 owl:Class GO:0030003 biolink:NamedThing cellular cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016208 biolink:NamedThing solitary rectal ulcer syndrome Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum. tmpte7i6ely_mondo_relaxed.owl UMLS:CN200964|ICD10:K62.6|SCTID:716685003|UMLS:C4274343|Orphanet:209964 owl:Class MONDO:0020401 biolink:NamedThing congenital unguarded mitral orifice Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:Q23.3|Orphanet:99060 owl:Class GO:0060376 biolink:NamedThing positive regulation of mast cell differentiation Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000670 biolink:NamedThing primordial germ cell A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. tmpte7i6ely_mondo_relaxed.owl primitive germ cell|gonocyte FMA:70567 cell owl:Class HGNC:9752 biolink:NamedThing QDPR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009848 biolink:NamedThing dissecting cellulitis of the scalp Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. tmpte7i6ely_mondo_relaxed.owl dissecting cellulitis of the scalp|perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial ICD10:L08.8|MedDRA:10056961|GARD:0001883|MESH:C562486|UMLS:C0263506|OMIM:260910|Orphanet:345|ICD9:704.8|SCTID:77333008 https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp owl:Class CL:2000066 biolink:NamedThing cardiac ventricle fibroblast Any fibroblast that is part of a cardiac ventricle. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6310 TermGenie 2014-10-07T18:35:38Z cell owl:Class MONDO:0008231 biolink:NamedThing Peyronie disease A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. tmpte7i6ely_mondo_relaxed.owl Peyronie's disease|Peyronie's fibromatosis|Peyronie disease|Induratio penis plastica OMIM:171000|ICD10:N48.6|ICD9:607.85|DOID:8616|Orphanet:2870|UMLS:C0030848 owl:Class HP:0005406 biolink:NamedThing Recurrent bacterial skin infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. tmpte7i6ely_mondo_relaxed.owl Recurrent episodes of impetigo|Recurrent cutaneous pyogenic infections|Recurrent bacterial skin infections|Recurrent pyogenic skin infections|Recurrent episodes of infectious dermatitis UMLS:C1835686 Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. HP:0000983 human_phenotype owl:Class HP:0001581 biolink:NamedThing Recurrent skin infections Infections of the skin that happen multiple times. tmpte7i6ely_mondo_relaxed.owl Recurrent skin infections|Skin infections, recurrent|Cutaneous infections UMLS:C1853193 HP:0007563 human_phenotype owl:Class UBERON:0009583 biolink:NamedThing spinal cord mantle layer tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C36807 biolink:NamedThing Dysplastic Epithelial Cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044628 biolink:NamedThing six2-related frontonasal dysplasia tmpte7i6ely_mondo_relaxed.owl SIX2-related FND Orphanet:488437 owl:Class MONDO:0011019 biolink:NamedThing alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism|alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism|Devriendt-Vandenberghe-Fryns syndrome Orphanet:1014|OMIM:601217|MESH:C563370|SCTID:720981000 owl:Class MONDO:0008836 biolink:NamedThing ataxia with myoclonic epilepsy and presenile dementia tmpte7i6ely_mondo_relaxed.owl ataxia with myoclonic epilepsy and presenile dementia MESH:C565933|OMIM:208700|UMLS:C1859646 owl:Class MONDO:0022513 biolink:NamedThing atrophoderma of Pierini and Pasini Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases. tmpte7i6ely_mondo_relaxed.owl congenital atrophoderma of Pasini and Pierini|idiopathic atrophoderma of Pasini and Pierini GARD:0005866|SCTID:711524008|ICD10:L90.3 https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini owl:Class MONDO:0011606 biolink:NamedThing baby rattle pelvis dysplasia tmpte7i6ely_mondo_relaxed.owl baby rattle pelvic dysplasia|baby rattle pelvis dysplasia UMLS:C1853911|MESH:C565282|GARD:0009289|OMIM:605838|MESH:C537794 https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia owl:Class MONDO:0012542 biolink:NamedThing psoriasis 8, susceptibility to tmpte7i6ely_mondo_relaxed.owl psoriasis 8, susceptibility to|PSORS8 DOID:0111288|OMIM:610707 owl:Class MONDO:0002720 biolink:NamedThing sella turcica neoplasm A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma. tmpte7i6ely_mondo_relaxed.owl tumor of the sella turcica|tumor of sella turcica|neoplasm of the sella turcica|sella turcica neoplasm|neoplasm of sella turcica|sellar tumor|sella turcica tumor|sellar neoplasm|selt NCIT:C4944|DOID:3643|UMLS:C0748616|ONCOTREE:SELT owl:Class NCBITaxon:6942 biolink:NamedThing Amblyomma tmpte7i6ely_mondo_relaxed.owl Aponomma GC_ID:1|PMID:12386418 NCBITaxon:34616 ncbi_taxonomy owl:Class MONDO:0018962 biolink:NamedThing common mesentery tmpte7i6ely_mondo_relaxed.owl universal mesentery UMLS:C0266235|SCTID:52159006|ICD10:Q43.3|Orphanet:620 owl:Class UBERON:0003931 biolink:NamedThing diencephalic white matter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020552 biolink:NamedThing placental site trophoblastic tumor Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. tmpte7i6ely_mondo_relaxed.owl placental-site gestational trophoblastic tumor|placental site trophoblastic tumor|placental site trophoblastic tumor (morphologic abnormality)|PSST|placental-site gestational trophoblastic neoplasm|placental site gestational trophoblastic tumor|placental-site GTT DOID:3596|ONCOTREE:PSTT|Orphanet:99928|ICDO:9104/1|EFO:1001111|UMLS:C0206666|SCTID:237252008|ICD10:D39.2|NCIT:C3757|MESH:D018245 owl:Class MONDO:0004799 biolink:NamedThing ulcerative blepharitis tmpte7i6ely_mondo_relaxed.owl ICD10:H01.01|UMLS:C0155173|DOID:9483|ICD9:373.01|SCTID:91662004 owl:Class NCBITaxon:314146 biolink:NamedThing Euarchontoglires tmpte7i6ely_mondo_relaxed.owl PMID:15522813|PMID:11214319|PMID:12878460|PMID:12082125|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017967 biolink:NamedThing testicular agenesis tmpte7i6ely_mondo_relaxed.owl absence of testes|bilateral anorchia|empty scrotum|anorchia|congenital absence of testes SCTID:371015003|GARD:0005819|Orphanet:325124|ICD10:Q55.0 owl:Class MONDO:0020795 biolink:NamedThing Silver-Russell syndrome 5 tmpte7i6ely_mondo_relaxed.owl Silver-Russell syndrome 5|SILVER-RUSSELL SYNDROME 5|SRS5 OMIM:618908 owl:Class MONDO:0019886 biolink:NamedThing distal trisomy 13q Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. tmpte7i6ely_mondo_relaxed.owl distal trisomy type 13q|distal duplication 13q|telomeric duplication 13q|trisomy 13qter SCTID:764454003|ICD10:Q92.3|Orphanet:96105 owl:Class MONDO:0017850 biolink:NamedThing sirenomelia Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. tmpte7i6ely_mondo_relaxed.owl mermaid syndrome|Sirenomelus|Fused legs and feet|sirenomelia sequence|mermaid malformation|symmelia SCTID:67254002|MedDRA:10049216|ICD10:Q87.2|Orphanet:3169|OMIM:600145|NCIT:C118455|UMLS:C0037205|GARD:0007652 owl:Class MONDO:0020571 biolink:NamedThing relapsing epidemic typhus tmpte7i6ely_mondo_relaxed.owl Orphanet:99991|UMLS:CN207497|ICD10:A75.0 owl:Class MONDO:0011039 biolink:NamedThing atrophia maculosa varioliformis cutis, familial tmpte7i6ely_mondo_relaxed.owl AMVC|atrophia MACULOSA VARIOLIFORMIS cutis, familial|atrophia maculosa varioliformis cutis, familial|varioliform macular atrophy of the skin OMIM:601341|MESH:C563349|UMLS:C1832465 owl:Class HP:0000133 biolink:NamedThing Gonadal dysgenesis tmpte7i6ely_mondo_relaxed.owl Pure gonadal dysgenesis|Mixed gonadal dysgenesis UMLS:C0018051|UMLS:C0018055|SNOMEDCT_US:95219002|SNOMEDCT_US:38804009|UMLS:C0687149|MSH:D006060|SNOMEDCT_US:83579008|MSH:D006059|SNOMEDCT_US:205681004 HP:0003243 human_phenotype owl:Class MONDO:0008554 biolink:NamedThing thrombocythemia 1 tmpte7i6ely_mondo_relaxed.owl thrombocytosis 1|thrombocythemia type 1|thrombocythemia 1|THCYT1 Orphanet:3318|OMIM:187950|UMLS:C3277671|UMLS:C0040028|Orphanet:71493 https://github.com/monarch-initiative/mondo/issues/230 owl:Class MONDO:0020369 biolink:NamedThing Chandler syndrome Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. tmpte7i6ely_mondo_relaxed.owl Chandler's syndrome|posterior membrane corneal dystrophy|endothelial corneal dystrophy|dystrophy of corneal endothelium ICD10:H21.2|SCTID:416960004|ICD10:H18.51|DOID:11554|UMLS:C0544008|GARD:0006033|MESH:D057129|ICD9:371.57|Orphanet:98979|UMLS:C1096100|MedDRA:10057487 owl:Class MONDO:0011439 biolink:NamedThing spinocerebellar ataxia type 12 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia type 12|SCA12|spinocerebellar ataxia 12 OMIM:604326|UMLS:C1858501|NCIT:C154316|DOID:0050962|ICD10:G11.2|Orphanet:98762|GARD:0010476|SCTID:719208005|MESH:C565790|UMLS:C4304885 owl:Class MONDO:0054716 biolink:NamedThing microcephaly 19, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MCPH19|primary autosomal recessive microcephaly 19|microcephaly 19, PRIMARY, autosomal recessive OMIM:617800|DOID:0070281|UMLS:C4540488 owl:Class MONDO:0007854 biolink:NamedThing keratolytic winter erythema Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. tmpte7i6ely_mondo_relaxed.owl keratolytic WINTER erythema|Oudtshoorn skin disease|Oudtshoorn skin|Erythrokeratolysis hiemalis|KWE|Oudtshoorn disease|Erythrokeratolysis hiemalis ichthyosis|keratolytic winter erythema GARD:0008275|UMLS:C0406756|SCTID:239064000|Orphanet:50943|OMIM:148370|MESH:C536155|ICD9:695.89 https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema owl:Class HGNC:9606 biolink:NamedThing PTH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010837 biolink:NamedThing primary hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. tmpte7i6ely_mondo_relaxed.owl primary hyperparathyroidism (disease)|primary hyperparathyroidism primary hyperparathyroidism (disease) DOID:11202|ICD9:252.01|Orphanet:99878|HP:0008200|ICD10:E21.0|MESH:D049950|NCIT:C48280|SCTID:36348003|EFO:0008519|GARD:0008612 Editor note: check relationship to parent and familiar form owl:Class MONDO:0018228 biolink:NamedThing bipartite talus Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. tmpte7i6ely_mondo_relaxed.owl ICD10:Q66.8|Orphanet:364198|SCTID:763128009|UMLS:CN227287 owl:Class MONDO:0003737 biolink:NamedThing malignant testicular Leydig cell tumor A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. tmpte7i6ely_mondo_relaxed.owl testicular Leydig cell tumor, malignant UMLS:C1515288|DOID:6021|NCIT:C39942 owl:Class NCBITaxon:33264 biolink:NamedThing Dictyocaulidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009523 biolink:NamedThing Lichtenstein syndrome Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl neutropenia immunoglobulin deficiency peculiar facies and bony anomalies|Lichtenstein syndrome MESH:C535894|GARD:0003248|SCTID:763668009|UMLS:C1855502|Orphanet:2390|OMIM:246550 https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome owl:Class MONDO:0001974 biolink:NamedThing hemangioma of orbit A hemangioma arising from the orbit. tmpte7i6ely_mondo_relaxed.owl angioma of orbit|hemangioma of the orbit|angioma of the orbit|orbit angioma|orbit hemangioma NCIT:C6245|ICD9:228.09|DOID:14459|UMLS:C1335128|SCTID:121951000119101 owl:Class MONDO:0009551 biolink:NamedThing magnesium, elevated red cell tmpte7i6ely_mondo_relaxed.owl magnesium, elevated red cell OMIM:248260 owl:Class MONDO:0043275 biolink:NamedThing TORCH syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. tmpte7i6ely_mondo_relaxed.owl TORCH syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection|torch syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome|TORCH infection UMLS:C0270173|GARD:0007781|NCIT:C98609|SCTID:41679006 owl:Class HGNC:25461 biolink:NamedThing PUS3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004930 biolink:NamedThing steroid-induced glaucoma tmpte7i6ely_mondo_relaxed.owl corticosteroid-induced glaucoma ICD9:365.89|UMLS:C0339578|DOID:9946|ICD9:365.3|SCTID:1654001 owl:Class MONDO:0044747 biolink:NamedThing human anaplasmosis An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. tmpte7i6ely_mondo_relaxed.owl Anaplasmoses|human anaplasmosis|anaplasmosis NCIT:C128425|SCTID:427481004|ICD9:082.49 owl:Class MONDO:0010772 biolink:NamedThing Leber optic atrophy and dystonia tmpte7i6ely_mondo_relaxed.owl Leber hereditary optic neuropathy with dystonia|LDYT|Leber Hereditary optic neuropathy with dystonia|Leber optic atrophy and dystonia|dystonia, familial, with visual failure and striatal lucencies|LHON and dystonia|dystonia familial, with visual failure and striatal lucencies|Marsden syndrome|Leber's hereditary optic neuropathy with dystonia OMIM:500001|Orphanet:99718|UMLS:C1839040|GARD:0008476|MESH:C536024|DOID:0111755 owl:Class HP:0000517 biolink:NamedThing Abnormality of the lens An abnormality of the lens. tmpte7i6ely_mondo_relaxed.owl Lens issue|Abnormality of the lens|Lens disease MSH:D007905|SNOMEDCT_US:10810001|UMLS:C0023308|UMLS:C0549651 human_phenotype owl:Class MONDO:0012278 biolink:NamedThing supranuclear palsy, progressive, 2 tmpte7i6ely_mondo_relaxed.owl PSNP2|supranuclear palsy, progressive, 2 Orphanet:240071|Orphanet:683|OMIM:609454|MESH:C563717|UMLS:C1836148 owl:Class MONDO:0037737 biolink:NamedThing peritoneal solitary fibrous tumor A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels. tmpte7i6ely_mondo_relaxed.owl peritoneal solitary fibrous tumor UMLS:C4288403|NCIT:C126357 owl:Class HGNC:30000 biolink:NamedThing BBS9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018212 biolink:NamedThing familial cervical artery dissection An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary cervical artery dissection|hereditary CAD|familial CAD ICD10:I72.0|UMLS:CN204734|ICD10:I72.5|Orphanet:36382 owl:Class MONDO:0020759 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl ECA1|epilepsy, childhood absence, susceptibility to, 1 OMIM:600131 owl:Class CHEBI:50584 biolink:NamedThing alkyl alcohol An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position. tmpte7i6ely_mondo_relaxed.owl alkyl alcohols|hydroxyalkanes|hydroxyalkane owl:Class HGNC:7133 biolink:NamedThing KMT2D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044727 biolink:NamedThing pancreatic carcinoma with mixed differentiation A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss. tmpte7i6ely_mondo_relaxed.owl MiNEN of pancreas|mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas|mixed exocrine-endocrine carcinoma of the pancreas|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|pancreatic MiNEN|pancreatic carcinoma with mixed differentiation Orphanet:506112|UMLS:C1709050|NCIT:C45843 owl:Class MONDO:0008361 biolink:NamedThing radius, aplasia of, with cleft lip/palate tmpte7i6ely_mondo_relaxed.owl radius, aplasia of, with cleft lip/palate UMLS:C1867395|OMIM:179400 owl:Class MONDO:0700060 biolink:NamedThing leukemia, acute, X-linked X-linked form of acute leukemia tmpte7i6ely_mondo_relaxed.owl OMIM:308960 http://orcid.org/0000-0002-4142-7153 owl:Class HP:0002686 biolink:NamedThing Prenatal maternal abnormality tmpte7i6ely_mondo_relaxed.owl Maternal health problem UMLS:C4025690 human_phenotype owl:Class HP:0012115 biolink:NamedThing Hepatitis Inflammation of the liver. tmpte7i6ely_mondo_relaxed.owl Liver inflammation SNOMEDCT_US:128241005|MSH:D006505|UMLS:C0019158 hecht 2012-09-16T05:03:29Z human_phenotype owl:Class MONDO:0017808 biolink:NamedThing duplication of the pituitary gland tmpte7i6ely_mondo_relaxed.owl Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome|hypophyseal duplication ICD10:Q89.2|UMLS:CN203774|Orphanet:314621 owl:Class GO:0016421 biolink:NamedThing CoA carboxylase activity Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023059 biolink:NamedThing Elliott ludman Teebi syndrome tmpte7i6ely_mondo_relaxed.owl multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs GARD:0000189|MESH:C536204|UMLS:C2931128 https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome owl:Class MONDO:0008794 biolink:NamedThing anhidrosis, familial generalized, with abnormal or absent sweat glands tmpte7i6ely_mondo_relaxed.owl anhidrosis, familial generalized, with abnormal or absent sweat glands OMIM:206600|UMLS:C4225670 owl:Class MONDO:0032904 biolink:NamedThing corneal dystrophy, Meesmann, 2 tmpte7i6ely_mondo_relaxed.owl CORNEAL DYSTROPHY, MEESMANN, 2|MECD2 OMIM:618767 owl:Class MONDO:0009463 biolink:NamedThing internal carotid arteries, hypoplasia of tmpte7i6ely_mondo_relaxed.owl internal carotid arteries, hypoplasia of OMIM:243100 owl:Class MONDO:0016850 biolink:NamedThing atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. tmpte7i6ely_mondo_relaxed.owl atypical Norrie disease due to Xp11.3 microdeletion|atypical Norrie disease due to del(X)(p11.3) UMLS:CN202196|ICD10:H35.5|SCTID:733626002|Orphanet:261501|UMLS:C4518083 owl:Class MONDO:0020474 biolink:NamedThing cheirospondyloenchondromatosis Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. tmpte7i6ely_mondo_relaxed.owl generalized enchondromatosis with platyspondyly SCTID:725104005|Orphanet:99647|UMLS:C4510810 owl:Class MONDO:0009462 biolink:NamedThing inosine phosphorylase deficiency, immune defect due to tmpte7i6ely_mondo_relaxed.owl inosine phosphorylase deficiency, immune defect due to MESH:C565465|UMLS:C1855737|OMIM:243080 owl:Class MONDO:0008058 biolink:NamedThing cylindrical spirals myopathy Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. tmpte7i6ely_mondo_relaxed.owl myotonic myopathy with cylindrical spirals DOID:0080103|OMIM:160990|SCTID:764525006|ICD10:G71.2|Orphanet:171886|UMLS:C1834418|GARD:0011906|MESH:C563535 https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy owl:Class MONDO:0001044 biolink:NamedThing esophageal atresia A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. tmpte7i6ely_mondo_relaxed.owl esophageal atresia|esophageal atresia (disease)|congenital esophageal atresia|oesophageal atresia|imperforate esophagus|congenital atresia of esophagus|congenital imperforate esophagus esophageal atresia (disease) SCTID:26179002|ICD10:Q39.0|NCIT:C87072|ICD9:750.3|DOID:10485|GARD:0006381|HP:0002032|MESH:D004933 owl:Class MONDO:0007833 biolink:NamedThing iris pigment layer, cleavage of tmpte7i6ely_mondo_relaxed.owl iris pigment layer, cleavage of OMIM:147610 owl:Class MONDO:0030360 biolink:NamedThing cholestasis, progressive familial intrahepatic, 6 tmpte7i6ely_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, 6|PFIC6 OMIM:619484 owl:Class MONDO:0012161 biolink:NamedThing susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. tmpte7i6ely_mondo_relaxed.owl CD8 deficiency, familial|familial CD8 deficiency|susceptibility to respiratory infections associated with CD8alpha chain mutation UMLS:C1837065|Orphanet:169085|SCTID:766983005|ICD10:D84.8|OMIM:608957|MESH:C563824 owl:Class MONDO:0006868 biolink:NamedThing neurogenic bowel Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. tmpte7i6ely_mondo_relaxed.owl ICD10:K59.2|UMLS:C0695242|DOID:13419|MedDRA:10048657|MESH:D055496|EFO:1001061|SCTID:425671009|ICD9:564.81 owl:Class UBERON:0008429 biolink:NamedThing cervical vertebral foramen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001870 biolink:NamedThing acute poststreptococcal glomerulonephritis Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. tmpte7i6ely_mondo_relaxed.owl post-streptococcal glomerulonephritis DOID:14064|NCIT:C35443|SCTID:68544003|UMLS:C0403414 owl:Class MONDO:0005928 biolink:NamedThing post-thrombotic syndrome A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. tmpte7i6ely_mondo_relaxed.owl postphlebetic syndrome with ulcer and inflammation|venous stress disorder|postphlebetic syndrome with ulcer|postphlebetic syndrome with inflammation|postphlebitic syndrome ICD10:I87.0|MESH:D011186|DOID:2364|ICD9:459.13|ICD9:459.11|ICD9:459.10|ICD9:459.12|EFO:0007452|SCTID:20427003|ICD9:459.1 owl:Class HP:0100963 biolink:NamedThing Hyperesthesia Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. tmpte7i6ely_mondo_relaxed.owl Hyperaesthesia MSH:D006941|SNOMEDCT_US:14151009|UMLS:C0020453 Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. doelkens 2012-01-18T06:11:19Z human_phenotype owl:Class MONDO:0017492 biolink:NamedThing fibular hemimelia, unilateral tmpte7i6ely_mondo_relaxed.owl fibular longitudinal meromelia, unilateral Orphanet:295081|ICD10:Q72.6 owl:Class MONDO:0024469 biolink:NamedThing chondrogenic neoplasm A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma. tmpte7i6ely_mondo_relaxed.owl chondrogenic tumor|neoplasm of cartilage|cartilaginous tumor|chondromatous neoplasm|tumor of cartilage|tumor of the cartilage|neoplasm of the cartilage|cartilaginous neoplasm|chondromatous tumor|chondrogenic neoplasm NCIT:C4755|UMLS:C0476147 owl:Class MONDO:0006565 biolink:NamedThing juvenile dermatitis herpetiformis Dermatitis herpetiformis in children tmpte7i6ely_mondo_relaxed.owl ICD9:694.2|ICD10:L12.2|EFO:1000719|UMLS:C0152092|SCTID:5906000|DOID:8507 owl:Class MONDO:0024250 biolink:NamedThing acute lichenoid pityriasis tmpte7i6ely_mondo_relaxed.owl parapsoriasis varioliformis acuta|mucha habermann disease|Mucha-Habermann disease|mucha-habermann syndrome|disease, Habermann's|PLEVA|Habermanns disease|disease, Habermann|disease, Mucha-Habermann|mucha-habermann disease|Habermann disease|parapsoriasis lichenoides et varioliformis acuta|Mucha Habermann disease|Habermann's disease ICD9:696.5|SCTID:86487001 owl:Class NCBITaxon:136 biolink:NamedThing Spirochaetales tmpte7i6ely_mondo_relaxed.owl spirochetes PMID:1917844|PMID:16558735|PMID:23908650|PMID:11542017|PMID:11075904|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011075 biolink:NamedThing retinitis pigmentosa 18 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. tmpte7i6ely_mondo_relaxed.owl RP18|retinitis pigmentosa 18|retinitis pigmentosa caused by mutation in PRPF3|retinitis pigmentosa type 18|PRPF3 retinitis pigmentosa|RP 18 UMLS:C1832378|DOID:0110356|GARD:0010392|MESH:C563320|OMIM:601414|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18 owl:Class MONDO:0019634 biolink:NamedThing familial nasal acilia Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. tmpte7i6ely_mondo_relaxed.owl ICD10:Q30.8|GARD:0002254|SCTID:763532008|Orphanet:922|UMLS:CN206502 https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia owl:Class HP:0100584 biolink:NamedThing Endocarditis An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. tmpte7i6ely_mondo_relaxed.owl SNOMEDCT_US:56819008|UMLS:C0014118|MSH:D004696 doelkens 2010-12-27T02:57:48Z human_phenotype owl:Class MONDO:0015255 biolink:NamedThing blepharophimosis-radioulnar synostosis syndrome tmpte7i6ely_mondo_relaxed.owl Jorgenson Lenz syndrome|blepharophimosis radioulnar synostosis|mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|Jorgenson-Lenz syndrome|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism MESH:C536292|Orphanet:1256|GARD:0003057|UMLS:C2931162|ICD10:Q87.2 owl:Class MONDO:0019478 biolink:NamedThing adult nodular lymphocyte predominant Hodgkin lymphoma A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult NLPHD|adult nodular lymphocyte predominant Hodgkin's disease|nodular lymphocyte predominant Hodgkin lymphoma|adult nodular lymphocyte predominant Hodgkin's lymphoma UMLS:C1332210|NCIT:C7942|MEDGEN:231044 owl:Class HP:0001889 biolink:NamedThing Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). tmpte7i6ely_mondo_relaxed.owl Megaloblastic anaemia SNOMEDCT_US:53165003|MSH:D000749|UMLS:C0002888 Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. HP:0004858 human_phenotype owl:Class HP:0001972 biolink:NamedThing Macrocytic anemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). tmpte7i6ely_mondo_relaxed.owl Macrocytic anaemia MSH:D000748|SNOMEDCT_US:83414005|UMLS:C0002886 The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. human_phenotype owl:Class MONDO:0010089 biolink:NamedThing isolated sulfite oxidase deficiency tmpte7i6ely_mondo_relaxed.owl sulfite oxidase deficiency|Sulfocysteinuria|sulfite oxidase deficiency, isolated|isolated sulfite oxidase deficiency|sulfocysteinuria|ISOD Orphanet:99731|Orphanet:833|OMIM:272300|ICD10:E72.1|GARD:0005062|SCTID:367368009|MESH:C538141|DOID:0111270 owl:Class MONDO:0014798 biolink:NamedThing brachydactyly type A1D Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. tmpte7i6ely_mondo_relaxed.owl BMPR1B brachydactyly type A1|brachydactyly type A1 caused by mutation in BMPR1B|BDA1D|brachydactyly, type A1, D DOID:0110978|UMLS:C4225183|OMIM:616849 owl:Class MONDO:0016966 biolink:NamedThing partial trisomy of the long arm of chromosome 16 tmpte7i6ely_mondo_relaxed.owl partial trisomy 16q|trisomy 16q|partial duplication of the long arm of chromosome 16|partial duplication of chromosome 16q|partial trisomy of chromosome 16q|16q trisomy|16q duplication|chromosome 16q duplication|partial trisomy of the long arm of chromosome type 16|Duplication 16q Orphanet:262959|MESH:C538042|GARD:0005316|UMLS:CN036363 owl:Class MONDO:0054781 biolink:NamedThing combined oxidative phosphorylation deficiency 36 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 36|COXPD36 UMLS:CN244569|DOID:0111482|OMIM:617950 owl:Class MONDO:0001800 biolink:NamedThing equatorial staphyloma tmpte7i6ely_mondo_relaxed.owl DOID:13788|UMLS:C0155361|SCTID:82146006|ICD9:379.13|ICD10:H15.81 owl:Class HGNC:11153 biolink:NamedThing SNRPB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030056 biolink:NamedThing Fanconi renotubular syndrome 5 tmpte7i6ely_mondo_relaxed.owl FANCONI RENOTUBULAR SYNDROME 5|Fanconi Renotubular Syndrome, Acadian Variant|FRTS5|Fanconi renotubular syndrome 5 OMIM:618913 owl:Class MONDO:0002382 biolink:NamedThing benign mesenchymoma A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpte7i6ely_mondo_relaxed.owl mesenchymoma, benign|mesenchymoma, benign (morphologic abnormality)|mesenchymal tumor, benign UMLS:C0334491|ICDO:8990/0|NCIT:C4267|DOID:2667 owl:Class UBERON:0018111 biolink:NamedThing muscle layer of rectum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013634 biolink:NamedThing neuropathy, hereditary sensory, type 2C Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene. tmpte7i6ely_mondo_relaxed.owl KIF1A hereditary sensory and autonomic neuropathy type 2|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|HSN2C|hereditary sensory neuropathy type 2C|neuropathy, hereditary sensory, type IIC|hereditary sensory neuropathy type IIC OMIM:614213|UMLS:C3280168|DOID:0070147|Orphanet:970 owl:Class MONDO:0005416 biolink:NamedThing osteoarthritis, knee Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) tmpte7i6ely_mondo_relaxed.owl MESH:D020370|EFO:0004616 owl:Class MONDO:0018462 biolink:NamedThing Angelman syndrome due to imprinting defect in 15q11-q13 tmpte7i6ely_mondo_relaxed.owl ICD10:Q93.5|Orphanet:411515|UMLS:CN237442 owl:Class HGNC:14951 biolink:NamedThing PPP1R15B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013973 biolink:NamedThing ectodermal dysplasia 5, hair/nail type tmpte7i6ely_mondo_relaxed.owl ECTD5|ectodermal dysplasia 5, hair/nail type UMLS:C3554108|DOID:0111657|OMIM:614927 owl:Class MONDO:0700130 biolink:NamedThing partial Trisomy 21 A chromosomal disorder consisting of the partial duplication of chromosome 21. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class NCBITaxon:10279 biolink:NamedThing Molluscum contagiosum virus tmpte7i6ely_mondo_relaxed.owl MOCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10278 biolink:NamedThing Molluscipoxvirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010428 biolink:NamedThing flat bone tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25712 biolink:NamedThing PGAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4704 biolink:NamedThing GYPC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024234 biolink:NamedThing Seckel like syndrome majoor-krakauer type tmpte7i6ely_mondo_relaxed.owl Bird-headed dwarfism microcephaly micrognathia GARD:0004781 https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type owl:Class CL:0002114 biolink:NamedThing CD38-positive unswitched memory B cell A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl CD38+ unswitched memory B-cell|CD38-positive unswitched memory B-lymphocyte|CD38+ unswitched memory B lymphocyte|CD38+ unswitched memory B cell|CD38+ unswitched memory B-lymphocyte|CD38-positive unswitched memory B lymphocyte|CD38-positive unswitched memory B-cell cell owl:Class MONDO:0010312 biolink:NamedThing radial ray deficiency, X-linked tmpte7i6ely_mondo_relaxed.owl Rrdx|radial ray deficiency, X-linked OMIM:300378|UMLS:C1845717|MESH:C564523 owl:Class MONDO:0011376 biolink:NamedThing ventricular fibrillation, paroxysmal familial, type 1 tmpte7i6ely_mondo_relaxed.owl ventricular fibrillation, paroxysmal familial, 1|ventricular fibrillation, paroxysmal familial, type 1|ventricular fibrillation during myocardial infarction, susceptibility to|VF1|IVF Orphanet:228140|OMIM:603829|MESH:C567851|SCTID:233915000|ICD10:I49.0|UMLS:C2751898 owl:Class MONDO:0023619 biolink:NamedThing lentigo maligna melanoma Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. tmpte7i6ely_mondo_relaxed.owl Hutchison melanotic freckle|SKLMM|malignant lentigo melanoma|LMM|lentigo maligna melanoma ICDO:8742/3|ICD9:172.8|NCIT:C9151|ONCOTREE:SKLMM|UMLS:C2739810|GARD:0009962|SCTID:302837001 https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma owl:Class UBERON:0035083 biolink:NamedThing transverse process-bearing vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009851 biolink:NamedThing peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain tmpte7i6ely_mondo_relaxed.owl peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain UMLS:C1850022|MESH:C564894|OMIM:260970 owl:Class MONDO:0016709 biolink:NamedThing anaplastic/large cell medulloblastoma A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl large cell/anaplastic medulloblastoma UMLS:C4330531|Orphanet:251855|NCIT:C129436|ONCOTREE:AMBL|ICD10:C71.6 owl:Class MONDO:0035362 biolink:NamedThing TRIM22-related inflammatory bowel disease Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene. tmpte7i6ely_mondo_relaxed.owl TRIM22-related IBD Orphanet:597201 This was considered for obsoletion but upon further review it seems like a valid disease. https://github.com/monarch-initiative/mondo/issues/3540 owl:Class MONDO:0017256 biolink:NamedThing idiopathic anterior uveitis tmpte7i6ely_mondo_relaxed.owl ICD10:H20.9|ICD10:H20.0|ICD10:H20.1|SCTID:231947004|UMLS:C0339315|ICD10:H20.2|ICD10:H20.8|Orphanet:280914 owl:Class MONDO:0022981 biolink:NamedThing die Smulders droog van dijk syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001857 https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome owl:Class MONDO:0017264 biolink:NamedThing syndromic recessive X-linked ichthyosis Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome. tmpte7i6ely_mondo_relaxed.owl syndromic RXLI|syndromic recessive X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations|syndromic X-linked ichthyosis|syndrome associated with recessive X-linked ichthyosis Orphanet:281090|ICD10:Q80.1|SCTID:717041008|UMLS:CN202782|OMIM:308100|UMLS:C4274085 owl:Class MONDO:0054559 biolink:NamedThing congenital disorder of glycosylation, type IIq tmpte7i6ely_mondo_relaxed.owl CDG2Q|CDG Iiq|COG2-related congenital disorder of glycosylation|COG2-CDG ICD10:E77.8|DOID:0070269|OMIM:617395|Orphanet:435934|UMLS:C4479353 owl:Class MONDO:0028618 biolink:NamedThing gastroenteric neuroendocrine neoplasm tmpte7i6ely_mondo_relaxed.owl Orphanet:481508 owl:Class GO:0045938 biolink:NamedThing positive regulation of circadian sleep/wake cycle, sleep Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpte7i6ely_mondo_relaxed.owl positive regulation of sleep|upregulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep|up-regulation of circadian sleep/wake cycle, sleep|stimulation of circadian sleep/wake cycle, sleep|activation of circadian sleep/wake cycle, sleep owl:Class MONDO:0036688 biolink:NamedThing rhabdomyoma A benign mesenchymal tumor arising from skeletal or cardiac muscle. tmpte7i6ely_mondo_relaxed.owl Rhabdomyomatous neoplasm|rhabdomyoma, benign|rhabdomyoma ICDO:8900/0|NCIT:C3358|UMLS:C0035411|MESH:D012207|SCTID:402877008 owl:Class MONDO:0004733 biolink:NamedThing pyriform sinus cancer A primary or metastatic malignant neoplasm that affects the pyriform sinus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of pyriform sinus|malignant neoplasm of the pyriform fossa|malignant tumor of the pyriform sinus|malignant tumor of pyriform sinus|malignant pyriform sinus tumor|malignant neoplasm of pyriform fossa|malignant pyriform sinus neoplasm|malignant tumor of pyriform fossa|malignant pyriform fossa neoplasm|malignant pyriform fossa tumor|malignant tumor of the pyriform fossa|malignant neoplasm of the pyriform sinus NCIT:C3531|UMLS:C0153400|SCTID:363401000|ICD10:C12|DOID:9235|ICD9:148.1 owl:Class UBERON:0005129 biolink:NamedThing metanephric distal tubule tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:6202 biolink:NamedThing Taenia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030259 biolink:NamedThing pontocerebellar hypoplasia, type 15 tmpte7i6ely_mondo_relaxed.owl PCH15|pontocerebellar hypoplasia, type 15 OMIM:619302 owl:Class HGNC:26837 biolink:NamedThing AMER1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001785 biolink:NamedThing malignant secondary hypertension tmpte7i6ely_mondo_relaxed.owl UMLS:C0155617|SCTID:89242004|DOID:13731|ICD9:405.09|ICD9:405.0 owl:Class MONDO:0010972 biolink:NamedThing hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. tmpte7i6ely_mondo_relaxed.owl hydrocephalus, costovertebral dysplasia, and Sprengel anomaly|Waaler-Aarskog syndrome|Ferlini-Ragno-Calzolari syndrome|hydrocephalus, skeletal anomalies, and mental disturbance|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia GARD:0005518|ICD10:Q87.8|MESH:C536461|SCTID:721229003|OMIM:600991|Orphanet:2180 owl:Class MONDO:0011484 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 1 Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. tmpte7i6ely_mondo_relaxed.owl catecholaminergic polymorphic ventricular tachycardia type 1|CVPT1|CPVT1|catecholaminergic polymorphic ventricular tachycardia 1|ventricular tachycardia, stress-induced polymorphic|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy UMLS:C4053736|OMIM:604772|UMLS:C1631597|ICD10:I47.2|DOID:0060675|Orphanet:3286|NCIT:C123414 owl:Class CHEBI:23390 biolink:NamedThing cobalt-corrinoid hexaamide tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010853 biolink:NamedThing Helicobacter pylori infection, susceptibility to tmpte7i6ely_mondo_relaxed.owl Helicobacter pylori infection, susceptibility to OMIM:600263|UMLS:C1838332 owl:Class MONDO:0007861 biolink:NamedThing isolated cloverleaf skull syndrome Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation. tmpte7i6ely_mondo_relaxed.owl Kleeblattschaedel-deformity syndrome|cloverleaf skull syndrome|KLEEBLATTSCHAEDEL|Kleeblattschaedel syndrome|isolated cloverleaf skull syndrome|Kleeblattschadel|cloverleaf skull|Kleeblattschaedel deformity syndrome MESH:C536884|OMIM:600775|UMLS:CN201565|SCTID:254022009|GARD:0003115|OMIM:148800|ICD10:Q75.0|Orphanet:2343 https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome owl:Class MONDO:0054565 biolink:NamedThing short-rib thoracic dysplasia 17 with or without polydactyly tmpte7i6ely_mondo_relaxed.owl SRTD17|short-rib thoracic dysplasia 17 with or without POLYDACTYLY OMIM:617405 owl:Class FOODON:03411607 biolink:NamedThing nut or edible seed producing plant tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:787 biolink:NamedThing Rickettsia australis tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:11034486 ncbi_taxonomy owl:Class MONDO:0013101 biolink:NamedThing basal cell carcinoma, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 2|BCC2 OMIM:613058|UMLS:C2751606 owl:Class NCBITaxon:41687 biolink:NamedThing Scedosporium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:66829 ncbi_taxonomy owl:Class NCBITaxon:5593 biolink:NamedThing Microascaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:34396 ncbi_taxonomy owl:Class MONDO:0005705 biolink:NamedThing clonorchiasis Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl Oriental liver fluke disease DOID:13767|ICD9:121.1|MESH:D003003|EFO:0007210|ICD10:B66.1|UMLS:C0009021|SCTID:11938002 owl:Class MONDO:0011185 biolink:NamedThing Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. tmpte7i6ely_mondo_relaxed.owl anterior limiting membrane dystrophy type II|Thiel-Behnke corneal dystrophy|curly fiber corneal dystrophy|corneal dystrophy of Bowman layer type 2|Waardenburg-Jonker corneal dystrophy|corneal dystrophy of Bowman Layer, type 2|honeycomb corneal dystrophy|corneal dystrophy, honeycomb-Shaped|TBCD|corneal dystrophy, Thiel-Behnke type|anterior limiting membrane dystrophy type 2|corneal dystrophy of the Bowman layer type 2|corneal dystrophy Thiel Behnke type|corneal dystrophy honeycomb shaped|corneal dystrophy honeycomb-shaped|CDTB|CDB2|Thiel Behnke corneal dystrophy|corneal dystrophy of Bowman layer type II Orphanet:98960|UMLS:C1562894|ICD10:H18.5|MESH:C535942|GARD:0009275|SCTID:417065002|DOID:0060455|OMIM:602082|ICD9:371.52 https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type owl:Class MONDO:0019322 biolink:NamedThing pemphigus vegetans tmpte7i6ely_mondo_relaxed.owl Orphanet:79479|ICD10:L10.1|UMLS:C0263316|SCTID:81285006|MedDRA:10057053|EFO:0008613|UMLS:CN205981 owl:Class MONDO:0008219 biolink:NamedThing pemphigus vulgaris Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%). tmpte7i6ely_mondo_relaxed.owl pemphigus vulgaris, familial|familial pemphigus vulgaris NCIT:C34910|DOID:0060851|EFO:0004719|GARD:0004270|GARD:0007355|ICD10:L10.0|MedDRA:10052802|UMLS:C0030809|OMIM:169610|Orphanet:704|MESH:C536645|SCTID:49420001 Editor note: check familial vs acquired owl:Class MONDO:0033649 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 14 tmpte7i6ely_mondo_relaxed.owl MC4DN14 OMIM:619058 owl:Class HP:0031192 biolink:NamedThing Abnormal morphology of left ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). tmpte7i6ely_mondo_relaxed.owl 2017-06-24 14:10:09+00:00 peter human_phenotype owl:Class MONDO:0001919 biolink:NamedThing cystoid macular retinal degeneration tmpte7i6ely_mondo_relaxed.owl cystoid macular degeneration of retina DOID:14245|ICD9:362.53|UMLS:C0154850|ICD10:H35.35|SCTID:14046000 owl:Class MONDO:0008285 biolink:NamedThing polyps, multiple and recurrent inflammatory fibroid, gastrointestinal tmpte7i6ely_mondo_relaxed.owl polyps, multiple and recurrent inflammatory fibroid, gastrointestinal MESH:C566774|OMIM:175510|UMLS:C1868000 owl:Class MONDO:0009790 biolink:NamedThing Opticocochleodentate degeneration tmpte7i6ely_mondo_relaxed.owl Opticocochleodentate degeneration ICD9:333.90|SCTID:77553008|MESH:C563002|UMLS:C0520711|OMIM:258700 owl:Class MONDO:0021078 biolink:NamedThing glandular papilloma tmpte7i6ely_mondo_relaxed.owl glandular papilloma UMLS:C0205650|NCIT:C6880 owl:Class FOODON:03412409 biolink:NamedThing coelenterate *Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies). [https://en.wikipedia.org/wiki/Coelenterata] tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042970 biolink:NamedThing disorder of glutamate decarboxylase A disease that has its basis in the disruption of glutamate decarboxylase activity. tmpte7i6ely_mondo_relaxed.owl glutamate decarboxylase deficiency|glutamate decarboxylase activity disease|disorder of glutamate decarboxylase activity|deficiency of glutamate decarboxylase ICD9:277.6|SCTID:124596009|GTR:AN0168165|MEDGEN:452941|GARD:0002505|UMLS:C1291560|GTR:AN0264281 owl:Class MONDO:0022586 biolink:NamedThing bone dysplasia Moore type tmpte7i6ely_mondo_relaxed.owl GARD:0000923 https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type owl:Class MONDO:0016040 biolink:NamedThing harlequin syndrome Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur. tmpte7i6ely_mondo_relaxed.owl progressive isolated segmental anhidrosis|unilateral loss of facial flushing and sweating with contralateral anhidrosis|sudden onset of unilateral flushing and sweating UMLS:C2029348|MESH:C535634|GARD:0008610|Orphanet:199282|SCTID:14070001000004105|ICD10:G90.8|ICD9:705.89 https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome owl:Class MONDO:0022802 biolink:NamedThing Collins-Sakati syndrome tmpte7i6ely_mondo_relaxed.owl Collins Sakati syndrome GARD:0001429 https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome owl:Class CHEBI:35519 biolink:NamedThing cholane tmpte7i6ely_mondo_relaxed.owl cholane owl:Class CL:0000805 biolink:NamedThing immature single positive thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. tmpte7i6ely_mondo_relaxed.owl T.ISP.th|immature single positive T-lymphocyte|immature single positive T lymphocyte|ISP|immature single positive T cell Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. cell owl:Class MONDO:0018615 biolink:NamedThing hemicrania continua Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied. tmpte7i6ely_mondo_relaxed.owl UMLS:CN237652|UMLS:C2349425|Orphanet:443070|ICD9:339.41|ICD10:G44.51|SCTID:443095000|GARD:0010795|ICD10:G44.0 https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua owl:Class ENVO:01000685 biolink:NamedThing water mass A mass of water. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019969 biolink:NamedThing panner disease Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good. tmpte7i6ely_mondo_relaxed.owl aseptic necrosis of the capital humerus|Osteochondrosis of the capital humerus UMLS:CN206896|ICD10:M92.0|Orphanet:97336 owl:Class MONDO:0010747 biolink:NamedThing X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. tmpte7i6ely_mondo_relaxed.owl Lubag syndrome|X-linked dystonia Parkinsonism|DYT-TAF1|X-linked dystonia-parkinsonism/Lubag|Lubag|X-linked torsion dystonia-Parkinsonism syndrome|dystonia 3, torsion, X-linked|dystonia-Parkinsonism, X-linked|torsion dystonia-Parkinsonism, Filipino type|X-linked dystonia-Parkinsonism syndrome|XDP|DYT3 OMIM:314250|UMLS:C1839130|SCTID:698279003|ICD10:G24.1|Orphanet:53351|GARD:0010533|MESH:C564048|NCIT:C126330|DOID:0090057 owl:Class MONDO:0007843 biolink:NamedThing Kabuki syndrome 1 tmpte7i6ely_mondo_relaxed.owl Niikawa-Kuroki syndrome|Kabuki syndrome type 1|KABUKI syndrome 1|Kabuki syndrome|KABUK1|Kabuki make-Up syndrome|Kabuki syndrome 1 UMLS:C0796004|OMIM:147920|Orphanet:2322|UMLS:CN030661 owl:Class HGNC:7490 biolink:NamedThing MT-TL1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002481 biolink:NamedThing peritubular myoid cell The flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-12-03T03:11:48Z cell owl:Class MONDO:0006102 biolink:NamedThing basaloid carcinoma A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading. tmpte7i6ely_mondo_relaxed.owl basaloid carcinoma NCIT:C4121|ICDO:8123/3|EFO:1000105 owl:Class MONDO:0004910 biolink:NamedThing mitral valve prolapse A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. tmpte7i6ely_mondo_relaxed.owl barlow's syndrome|myxomatous mitral valve prolapse|mitral valve prolapse syndrome|mitral valve prolapse (disease)|systolic click-murmur syndrome|prolapse, mitral valve|valve, prolapse Of mitral|mitral valve prolapse|mitral leaflet syndrome|floppy mitral valve|mitral valve prolapse, myxomatous mitral valve prolapse (disease) NCIT:C50655|SCTID:409712001|DOID:988|HP:0001634 owl:Class MONDO:0018442 biolink:NamedThing acitretin/etretinate embryopathy Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. tmpte7i6ely_mondo_relaxed.owl Acitretine embryofetopathy|retinoid embryopathy|acitretin embryopathy|fetal acitretin syndrome|acitretin embryofetopathy|fetal acitretin/etretinate syndrome GARD:0000468|UMLS:CN205049|ICD10:Q86.8|MESH:C538169|Orphanet:40366|SCTID:725287006 https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy owl:Class MONDO:0043726 biolink:NamedThing multiple organ dysfunction syndrome The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. tmpte7i6ely_mondo_relaxed.owl multiple organ dysfunction syndrome|organ failure, multiple|organ dysfunction syndrome, multiple|MODS|multiple organ failure|multisystem organ failure|multiple organ system failure|failure, multiple organ|multiple organ failures|multi-organ failure|multiorgan failure|multiple organ systems failure|multiple systems organ failure SCTID:57653000|MESH:D009102 owl:Class MONDO:0030307 biolink:NamedThing spermatogenic failure 55 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 55|SPGF55 OMIM:619380 owl:Class MONDO:0020714 biolink:NamedThing mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl OMIM:251900 owl:Class MONDO:0013632 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 33 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 33|autosomal dominant deafness 33|autosomal dominant nonsyndromic deafness 33|autosomal dominant nonsyndromic deafness type 33|DFNA33 Orphanet:90635|ICD10:H90.3|DOID:0110562|OMIM:614211 owl:Class MONDO:0017571 biolink:NamedThing Proteus-like syndrome Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. tmpte7i6ely_mondo_relaxed.owl Proteus like syndrome mental retardation eye defect|Cohen-Hayden syndrome|Proteus like syndrome intellectual disability eye defect Orphanet:2969|OMIM:158350|GARD:0012801|GARD:0004525|ICD10:Q87.3|SCTID:716862002 owl:Class MONDO:0006327 biolink:NamedThing ocular sebaceous carcinoma Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases. tmpte7i6ely_mondo_relaxed.owl eye sebaceous carcinoma|ocular sebaceous carcinoma EFO:1000405|NCIT:C43340|UMLS:C1709308 owl:Class MONDO:0009720 biolink:NamedThing Keipert syndrome A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. tmpte7i6ely_mondo_relaxed.owl nasodigitoacoustic syndrome, formerly|nasodigitoacoustic syndrome|Keipert syndrome|KPTS ICD10:Q87.0|GARD:0000267|MESH:C538337|OMIM:301026|Orphanet:2662|OMIM:255980|SCTID:763774001|UMLS:C1850627 owl:Class OBO:CP_0000027 biolink:NamedThing acidophilic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. tmpte7i6ely_mondo_relaxed.owl eosinophilic tmeehan 2009-12-22T04:23:25Z cell owl:Class MONDO:0010450 biolink:NamedThing intellectual disability, X-linked 89 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 89|intellectual disability, X-linked 89|MRX89 Orphanet:777|MESH:C564036|OMIM:300848 owl:Class MONDO:0017817 biolink:NamedThing primary localized amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. tmpte7i6ely_mondo_relaxed.owl localized AL amyloidosis Orphanet:314709|ICD10:E85.4 owl:Class NCBITaxon:123365 biolink:NamedThing Neoteleostei tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019035 biolink:NamedThing pancreatoblastoma Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. tmpte7i6ely_mondo_relaxed.owl PB|pancreatoblastoma (morphologic abnormality) GARD:0004210|DOID:6823|MESH:C537162|NCIT:C4265|UMLS:C0334489|EFO:1000446|ONCOTREE:PB|ICD10:C25.1|Orphanet:677 https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma owl:Class MONDO:0016671 biolink:NamedThing sickle cell-hemoglobin E disease syndrome tmpte7i6ely_mondo_relaxed.owl HbSE disease ICD10:D57.2|UMLS:C0272085|Orphanet:251375 owl:Class HP:0001751 biolink:NamedThing Vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. tmpte7i6ely_mondo_relaxed.owl Vestibular function defect|Impaired vestibular function|Interictal vestibular dysfunction UMLS:C1843865 The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. HP:0007921|HP:0006917 human_phenotype owl:Class MONDO:0016497 biolink:NamedThing paraparetic variant of Guillain-Barre syndrome Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. tmpte7i6ely_mondo_relaxed.owl paraparetic variant of Guillain-Barré syndrome|paraparetic variant of GBS ICD10:G61.0|UMLS:CN201500|Orphanet:231445 owl:Class HGNC:13815 biolink:NamedThing BCO1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6210 biolink:NamedThing CD82 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018936 biolink:NamedThing osteoblastoma A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. tmpte7i6ely_mondo_relaxed.owl giant osteoid osteoma|osteoblastoma (disease)|osteoblastoma|osteoblastoma, benign|ossifying giant cell tumor osteoblastoma (disease) ICD10:D16.4|ICD10:D16.6|NCIT:C3294|ICD10:D16.8|HP:0011846|UMLS:C0029417|DOID:0060098|ICD10:D16.7|Orphanet:58040|ICD10:D16.5|ICD10:D16.1|EFO:1000410|ICDO:9200/0|ICD10:D16.3|MESH:D018215|MedDRA:10004430|ICD10:D16.0 owl:Class CL:1000456 biolink:NamedThing mesothelial cell of parietal peritoneum A mesothelial cell that is part of the parietal peritoneum. tmpte7i6ely_mondo_relaxed.owl FMA:72142 cell owl:Class GO:0003091 biolink:NamedThing renal water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. tmpte7i6ely_mondo_relaxed.owl water homeostasis by the renal system owl:Class MONDO:0017546 biolink:NamedThing congenital vertical talus, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295201|ICD10:Q66.8 owl:Class UBERON:0013491 biolink:NamedThing cervical fascia tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016464 biolink:NamedThing insulin-resistance syndrome type B Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction. tmpte7i6ely_mondo_relaxed.owl insulin-resistance type B ICD10:E13|GARD:0003009|Orphanet:2298|UMLS:C0342337 https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b owl:Class MONDO:0010416 biolink:NamedThing deafness, cataract, retinitis pigmentosa, and sperm abnormalities tmpte7i6ely_mondo_relaxed.owl deafness, cataract, retinitis pigmentosa, and sperm abnormalities MESH:C567467|OMIM:300719|UMLS:C2678011 owl:Class MONDO:0006612 biolink:NamedThing steroid lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. tmpte7i6ely_mondo_relaxed.owl steroid lipomatosis EFO:1000769|DOID:3925|NCIT:C27487|UMLS:C1336506 owl:Class MONDO:0010770 biolink:NamedThing ubiquitin-activating enzyme, Y-linked tmpte7i6ely_mondo_relaxed.owl ubiquitin-activating enzyme, Y-linked|Ube1Y OMIM:489000 owl:Class CL:0000355 biolink:NamedThing multi-potent skeletal muscle stem cell A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell. tmpte7i6ely_mondo_relaxed.owl FMA:86767 Multi-potency demonstrated ex vivo. At the time of writing, it is unclear whether the endogenous population differentiates into multiple cell types in vivo. cell owl:Class HGNC:10383 biolink:NamedThing RPS10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007504 biolink:NamedThing thickened earlobes-conductive deafness syndrome Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Escher-Hirt syndrome|earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher Hirt syndrome ICD10:H90.0|OMIM:128980|Orphanet:2405|SCTID:722476007|GARD:0002195 owl:Class MONDO:0011286 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 13 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 13|DFNB13|autosomal recessive deafness 13|deafness, autosomal recessive 13|autosomal recessive nonsyndromic deafness 13 UMLS:C1864199|ICD10:H90.3|DOID:0110468|MESH:C566410|OMIM:603098 owl:Class NCBITaxon:451868 biolink:NamedThing Pleosporomycetidae tmpte7i6ely_mondo_relaxed.owl PMID:17486979|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147541 biolink:NamedThing Dothideomycetes tmpte7i6ely_mondo_relaxed.owl Loculoascomycetes|bitunicate ascomycetes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0060490 biolink:NamedThing neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies tmpte7i6ely_mondo_relaxed.owl NMIHBA|neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481|UMLS:C4479566 owl:Class CL:0002199 biolink:NamedThing oxyphil cell of parathyroid gland An oncocyte located in the parathyroid gland. tmpte7i6ely_mondo_relaxed.owl FMA:69084 tmeehan 2010-09-02T11:33:23Z cell owl:Class OBO:CHR_9606-chr15q2 biolink:NamedThing 15q2 (Human) tmpte7i6ely_mondo_relaxed.owl 101991189 44500000 hg38 owl:Class MONDO:0002293 biolink:NamedThing cutaneous ganglioneuroma A ganglioneuroma arising from the skin. tmpte7i6ely_mondo_relaxed.owl ganglioneuroma of the skin|cutaneous ganglioneuroma|ganglioneuroma of skin|skin ganglioneuroma SCTID:254766004|UMLS:C0346063|NCIT:C4481|DOID:2425 owl:Class MONDO:0032889 biolink:NamedThing Poirier-Bienvenu neurodevelopmental syndrome tmpte7i6ely_mondo_relaxed.owl POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME|POBINDS OMIM:618732 owl:Class MONDO:0000499 biolink:NamedThing non-arteritic anterior ischemic optic neuropathy tmpte7i6ely_mondo_relaxed.owl nonarteritic anterior ischemic optic neuropathy|NAION|non-arteritic aion UMLS:C1852242|DOID:0050864|Orphanet:415300 owl:Class MONDO:0003791 biolink:NamedThing prostatic urethral cancer A male urethral cancer that involves the prostatic urethra. tmpte7i6ely_mondo_relaxed.owl male urethral cancer of prostatic urethra|prostatic urethra male urethral cancer|prostatic urethral malignant neoplasm UMLS:C1514523|DOID:6167|NCIT:C39870 owl:Class MONDO:0012513 biolink:NamedThing maturity-onset diabetes of the young type 7 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. tmpte7i6ely_mondo_relaxed.owl maturity-onset diabetes of the young (disease) caused by mutation in KLF11|diabetes mellitus MODY type 7|MODY7|maturity-onset diabetes of the young, type 7|type 7 maturity-onset diabetes of the young|KLF11 maturity-onset diabetes of the young (disease)|MODY type 7|MODY KLF11 related SCTID:609574004|MESH:C566466|DOID:0111106|GARD:0010661|OMIM:610508|UMLS:C1864839|Orphanet:552 https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7 owl:Class MONDO:0007280 biolink:NamedThing cataract 8 multiple types A cataract that has material basis in variation in the region 1pter-p36.13. tmpte7i6ely_mondo_relaxed.owl CTRCT8|cataract 8, multiple types|cataract congenital Volkmann type|cataract, congenital, Volkmann type MESH:C538285|DOID:0110228|GARD:0001146|Orphanet:91492|Orphanet:98983|ICD10:Q12.0|UMLS:C1861833|OMIM:115665 owl:Class MONDO:0007740 biolink:NamedThing Wagner disease Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. tmpte7i6ely_mondo_relaxed.owl Wagner vitreoretinal Degeneration|WGVRP|VCAN-related vitreoretinopathy|Wagner syndrome 1|Wagner disease (formerly)|WGN1|dominant hyaloideoretinal dystrophy of Wagner|Wagner vitreoretinopathy|Wagner syndrome|erosive vitreoretinopathy|Wagner syndrome type 1|vitreoretinal degeneration, Wagner type|Wagner disease|ERVR|hyaloideoretinal Degeneration of Wagner Orphanet:898|UMLS:C1840452|MESH:C536075|OMIM:143200|MedDRA:10063383|ICD10:H35.5|SCTID:232064001|GARD:0007871 owl:Class MONDO:0003373 biolink:NamedThing kidney leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl renal leiomyosarcoma|kidney leiomyosarcoma|leiomyosarcoma of the kidney|leiomyosarcoma of kidney NCIT:C6183|DOID:5287|UMLS:C1335743 owl:Class MONDO:0007390 biolink:NamedThing coumarin resistance tmpte7i6ely_mondo_relaxed.owl warfarin sensitivity|coumarin resistance|coumarin sensitivity|coumarin, poor metabolism of|warfarin resistance UMLS:CN078029|UMLS:C0750384|OMIM:122700|GARD:0012639|GARD:0012721|SCTID:726543008 owl:Class MONDO:0023286 biolink:NamedThing graphite pneumoconiosis tmpte7i6ely_mondo_relaxed.owl graphite pneumoconiosis|graphite lung disease|graphite fibrosis of lung|graphite fibrosis|graphitosis|carbon pneumoconiosis SCTID:17385007|ICD9:503|UMLS:C0264439|GARD:0008359 https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis owl:Class MONDO:0020744 biolink:NamedThing Mobitz type I atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC) tmpte7i6ely_mondo_relaxed.owl type 1 second degree atrioventricular block|Mobitz I|second degree atrioventricular block Möbitz type I|Möbitz I|AV block second degree Mobitz type I|AV block second degree Möbitz type I|Mobitz type I|Möbitz type I second degree AV block|Wenckebach block|second degree atrioventricular block Mobitz type I|Mobitz type I second degree AV block|type 1 second degree AV block|type 1 2nd degree AV block NCIT:C62017 owl:Class MONDO:0004558 biolink:NamedThing thyroid gland macrofollicular adenoma A thyroid gland adenoma composed of large size follicles. tmpte7i6ely_mondo_relaxed.owl colloid adenoma|macrofollicular adenoma|macrofollicular adenoma (morphologic abnormality) ICDO:8334/0|NCIT:C4161|UMLS:C0334329|DOID:8419 owl:Class FOODON:03420155 biolink:NamedThing obsolete: seed (anatomical part) The main propagative part of a plant, especially the kernel of a grain or nut. The bulk of the seed is formed by the endosperm, which encloses the germ and is covered by skin (bran). tmpte7i6ely_mondo_relaxed.owl seed True owl:Class MONDO:0007848 biolink:NamedThing autosomal dominant keratitis Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. tmpte7i6ely_mondo_relaxed.owl hereditary keratitis|keratitis, autosomal dominant|dominantly inherited keratitis|keratitis, hereditary ICD10:H16.8|UMLS:CN068649|UMLS:C4017065|UMLS:C1835698|GARD:0003089|OMIM:148190|Orphanet:2334|DOID:0111383|SCTID:715339004|MESH:C537022 owl:Class HGNC:2661 biolink:NamedThing DAB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007325 biolink:NamedThing choreoathetosis, familial inverted tmpte7i6ely_mondo_relaxed.owl choreoathetosis, familial inverted|infantile choreoathetosis of Fisher UMLS:C1861569|OMIM:118750|MESH:C566127 owl:Class HGNC:1856 biolink:NamedThing CENPE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016490 biolink:NamedThing hemoglobin C-beta-thalassemia syndrome Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl C-beta-thalassemia|HBC-beta-thalassemia syndrome UMLS:CN201488|Orphanet:231242|ICD10:D58.2 owl:Class MONDO:0007309 biolink:NamedThing Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 1A|hereditary motor and sensory neuropathy 1A|Charcot-Marie-Tooth disease type 1A|Charcot Marie Tooth disease type 1A|HMSN1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A|CMT 1A|CMT1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|microduplication 17p12|Charcot-Marie-Tooth disease, demyelinating, type 1A|HMSN 1A|Charcot-Marie-Tooth neuropathy, type 1A NCIT:C75468|UMLS:C0270911|OMIM:118220|DOID:0110148|Orphanet:101081|ICD10:G60.0|GARD:0001245 https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a owl:Class MONDO:0033969 biolink:NamedThing inflammatory bowel disease-recurrent sinopulmonary infections syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:529980 owl:Class MONDO:0017225 biolink:NamedThing null syndrome The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl Pelizaeus-Merzbacher disease, null syndrome|PLP1 null syndrome UMLS:CN202707|ICD10:E75.2|Orphanet:280234 owl:Class NCBITaxon:11229 biolink:NamedThing Morbillivirus tmpte7i6ely_mondo_relaxed.owl Morbilliviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012208 biolink:NamedThing congenital reticular ichthyosiform erythroderma tmpte7i6ely_mondo_relaxed.owl Aarau disease|ichthyosis variegata|erythroderma, ichthyosiform, congenital reticular|ichthyosis with confetti|erythrokeratoderma, reticular|IWC|CRIE MESH:C563781|Orphanet:281190|SCTID:703504006|UMLS:C3665704|OMIM:609165 owl:Class NCBITaxon:2750822 biolink:NamedThing unclassified Mycobacterium avium complex (MAC) tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class UBERON:0005038 biolink:NamedThing mucosa of segmental bronchus tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2732527 biolink:NamedThing Chitovirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017117 biolink:NamedThing congenital non-communicating hydrocephalus tmpte7i6ely_mondo_relaxed.owl congenital obstructive hydrocephalus ICD10:Q03.1|ICD10:Q03.2|Orphanet:269510|ICD10:Q03.8|SCTID:762295002 owl:Class CL:0001028 biolink:NamedThing CD7-positive lymphoid progenitor cell CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative. tmpte7i6ely_mondo_relaxed.owl CD7-positive lymphoid precursor These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000040)(PMID:19243617). cell owl:Class MONDO:0020115 biolink:NamedThing secondary polycythemia Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia). tmpte7i6ely_mondo_relaxed.owl secondary erythrocytosis|secondary polycythemia MedDRA:10036062|ICD10:D75.1|NCIT:C27178|Orphanet:98428|UMLS:C1318533 owl:Class MONDO:0012319 biolink:NamedThing major affective disorder 3 tmpte7i6ely_mondo_relaxed.owl MAJOR affective disorder 3|MAFD3|bipolar affective disorder, early-onset|major affective disorder 3 UMLS:C1864994|MESH:C566501|OMIM:609633 owl:Class NCBITaxon:10116 biolink:NamedThing Rattus norvegicus tmpte7i6ely_mondo_relaxed.owl rat|brown rat|rats|Norway rat GC_ID:1 NCBITaxon:36465 ncbi_taxonomy owl:Class MONDO:0006787 biolink:NamedThing hidrocystoma A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. tmpte7i6ely_mondo_relaxed.owl hidrocystoma (morphologic abnormality)|eccrine cystadenoma|apocrine/eccrine hidrocystoma|hidrocystoma|Hydrocystoma|apocrine cystadenoma|cystadenoma|eccrine hidrocystoma of skin UMLS:C0206672|DOID:3893|ICDO:8404/0|ICD9:709.8|SCTID:254725004|EFO:1000967|NCIT:C3760|MedDRA:10059019|MESH:D018251 owl:Class MONDO:0012232 biolink:NamedThing stuttering, familial persistent, 2 tmpte7i6ely_mondo_relaxed.owl stuttering, familial persistent, 2|STUT2 OMIM:609261|MESH:C563756|UMLS:C1836484 owl:Class MONDO:0001368 biolink:NamedThing phthisical cornea tmpte7i6ely_mondo_relaxed.owl SCTID:28143002|ICD9:371.05|UMLS:C0155102|DOID:11793 owl:Class MONDO:0010854 biolink:NamedThing Toriello-Lacassie-Droste syndrome Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. tmpte7i6ely_mondo_relaxed.owl oculo-ectodermal syndrome|oes|Toriello Lacassie Droste syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome|oculoectodermal syndrome MESH:C563969|SCTID:723554006|GARD:0010366|UMLS:C1838329|DOID:0111705|OMIM:600268|Orphanet:3339 owl:Class MONDO:0022518 biolink:NamedThing autoimmune inner ear disease A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible. tmpte7i6ely_mondo_relaxed.owl AIED GARD:0008582 owl:Class NCBITaxon:39759 biolink:NamedThing Deltavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006211 biolink:NamedThing fibrous hamartoma of infancy A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern. tmpte7i6ely_mondo_relaxed.owl infantile fibrous hamartoma|fibrous hamartoma|fibrous hamartoma of infancy UMLS:C0265979|ICD9:215.9|EFO:1000257|NCIT:C3942|SCTID:56364004 owl:Class MONDO:0017502 biolink:NamedThing acheiria, unilateral tmpte7i6ely_mondo_relaxed.owl congenital absence of hand, unilateral ICD10:Q71.3|Orphanet:295101 owl:Class MONDO:0017445 biolink:NamedThing acheiria tmpte7i6ely_mondo_relaxed.owl congenital absence of hand ICD10:Q71.3|Orphanet:294983|SCTID:371199008 owl:Class HP:0012323 biolink:NamedThing Sleep myoclonus Myoclonus that occurs during the initial phases of sleep. tmpte7i6ely_mondo_relaxed.owl MSH:D009207|UMLS:C0751352|SNOMEDCT_US:34101000119105 peter 2013-08-11T10:21:47Z human_phenotype owl:Class HGNC:12463 biolink:NamedThing UBB tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12723 biolink:NamedThing VSX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018342 biolink:NamedThing Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. tmpte7i6ely_mondo_relaxed.owl JBTS with JATD|Joubert syndrome with JATD UMLS:C4518774|ICD10:Q04.3|OMIM:616546|Orphanet:397715|SCTID:733418003|UMLS:CN225944|OMIM:615636 owl:Class MONDO:0000974 biolink:NamedThing axillary lipoma A benign adipose tissue neoplasm of the axilla. tmpte7i6ely_mondo_relaxed.owl axillary lipoma|axilla lipoma|lipoma of axilla ICD9:214.8|UMLS:C0347429|SCTID:188993006|NCIT:C35419|DOID:10205 owl:Class MONDO:0010720 biolink:NamedThing partial androgen insensitivity syndrome Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. tmpte7i6ely_mondo_relaxed.owl PAIS|androgen insensitivity, partial|type I familial incomplete male pseudohermaphroditism|androgen insensitivity, partial, with or without breast cancer|androgen resistance syndrome, partial|pseudohermaphroditism, incomplete male, type I|Reifenstein syndrome|incomplete male pseudohermaphroditism|partial androgen resistance syndrome|pais|familial incomplete Male pseudohermaphroditism, type 1|Reifenstein syndrome, partial|androgen insensitivity syndrome, partial GTR:AN0098655|GTR:AN0098654|GTR:AN0098652|UMLS:CN035075|GARD:0005692|OMIM:312100|OMIM:312300|NCIT:C120192|ICD10:E34.5|Orphanet:90797|MESH:C538435|ICD10:E34.52|GTR:AN0098650|GTR:AN0098651|OMIM:307300|GTR:AN0098649|SCTID:122811000119101 https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome owl:Class MONDO:0006726 biolink:NamedThing diaphragmatic eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. tmpte7i6ely_mondo_relaxed.owl diaphragmatic eventration|diaphragmatic eventration (disease) diaphragmatic eventration (disease) MESH:D003965|NCIT:C98912|DOID:10480|ICD10:Q79.1|EFO:1000898|HP:0009110|SCTID:34168003 owl:Class MONDO:0017098 biolink:NamedThing isolated focal cortical dysplasia type Ic tmpte7i6ely_mondo_relaxed.owl FCD type Ic Orphanet:268987|ICD10:Q04.8|UMLS:CN202455 owl:Class MONDO:0011004 biolink:NamedThing lissencephaly type 3-metacarpal bone dysplasia syndrome This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence. tmpte7i6ely_mondo_relaxed.owl lissencephaly type 3 and bone dysplasia|lissencephaly type III and bone dysplasia MESH:C563383|OMIM:601160|SCTID:718720007|UMLS:C1832678|Orphanet:86822|ICD10:Q04.3 owl:Class MONDO:0032884 biolink:NamedThing ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies tmpte7i6ely_mondo_relaxed.owl ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES|EDFAOB OMIM:618727 owl:Class MONDO:0003736 biolink:NamedThing cancerophobia An overwhelming, irrational, and persistent fear of being diagnosed with cancer. tmpte7i6ely_mondo_relaxed.owl fear of getting cancer (finding)|cancer phobia|fear of getting cancer|Cancerphobia NCIT:C35492|DOID:602|EFO:1001879 owl:Class MONDO:0006038 biolink:NamedThing indeterminate colitis It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy. tmpte7i6ely_mondo_relaxed.owl colitis of indeterminate type ICD9:558.9|SCTID:235746007|ICD10:K52.3|UMLS:C0341332|EFO:1000034|NCIT:C27110 owl:Class MONDO:0015570 biolink:NamedThing isolated congenital auditory ossicle malformation Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance. tmpte7i6ely_mondo_relaxed.owl congenital auditory ossicle malformation without external ear abnormality Orphanet:162526|ICD10:Q16.3 owl:Class CHEBI:23482 biolink:NamedThing cyclohexanones Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012001 biolink:NamedThing mandibulofacial dysostosis with ptosis, autosomal dominant tmpte7i6ely_mondo_relaxed.owl mandibulofacial dysostosis with ptosis, autosomal dominant UMLS:C1842349|OMIM:608257|MESH:C564267 owl:Class MONDO:0003748 biolink:NamedThing flying phobia An overwhelming, irrational, and persistent fear of traveling in an aircraft. tmpte7i6ely_mondo_relaxed.owl NCIT:C35413|DOID:605|EFO:1001889 owl:Class MONDO:0022888 biolink:NamedThing craniostenosis cataract tmpte7i6ely_mondo_relaxed.owl GARD:0001584 https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract owl:Class HGNC:756 biolink:NamedThing ASPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030487 biolink:NamedThing spondylometaphyseal dysplasia, pagnamenta type tmpte7i6ely_mondo_relaxed.owl SMDP OMIM:619638 owl:Class UBERON:0007159 biolink:NamedThing lumen of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013727 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 1 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene. tmpte7i6ely_mondo_relaxed.owl Rpl|miscarriage, recurrent|F5 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility caused by mutation in F5|embryonic loss, recurrent|RPRGL1|stillbirth, recurrent|Rprgl|pregnancy loss, recurrent, susceptibility to, 1|fetal loss, recurrent, susceptibility to|pregnancy loss, recurrent, susceptibility to, type 1|abortion, spontaneous, recurrent OMIM:614389|EFO:0008899 owl:Class MONDO:0008010 biolink:NamedThing antigen defined by monoclonal antibody Aj9 tmpte7i6ely_mondo_relaxed.owl antigen defined by monoclonal antibody Aj9|Msk1 OMIM:158030 owl:Class MONDO:0009010 biolink:NamedThing aortic arch interruption Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths. tmpte7i6ely_mondo_relaxed.owl Orphanet:2299|MedDRA:10022599|ICD10:Q25.4|ICD9:745.11|ICD10:Q20.1|GARD:0000740|ICD10:Q25.21 https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption owl:Class MONDO:0033655 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 20 tmpte7i6ely_mondo_relaxed.owl MC4DN20 OMIM:619064 owl:Class HGNC:3680 biolink:NamedThing FGF23 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009743 biolink:NamedThing neurologic disease, infantile multisystem, with osseous fragility tmpte7i6ely_mondo_relaxed.owl neurologic disease, infantile multisystem, with osseous fragility UMLS:C1850465|OMIM:256720|MESH:C564954 owl:Class MONDO:0001466 biolink:NamedThing punctate epithelial keratoconjunctivitis tmpte7i6ely_mondo_relaxed.owl Thygeson superficial punctate keratitis|Thygeson's superficial punctate keratitis|punctate keratitis DOID:12197|ICD9:370.21|UMLS:C0259799|ICD10:H16.14|SCTID:416069001 owl:Class MONDO:0015451 biolink:NamedThing univentricular heart Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities. tmpte7i6ely_mondo_relaxed.owl Double inlet left ventricle Orphanet:1464|ICD9:746.89|SCTID:253283000|MedDRA:10045545|ICD10:Q20.4 owl:Class MONDO:0017735 biolink:NamedThing congenital aortic valve stenosis tmpte7i6ely_mondo_relaxed.owl ICD9:746.3|SCTID:18546004|MedDRA:10010371|Orphanet:3093|ICD10:Q23.0 owl:Class MONDO:0007763 biolink:NamedThing nonpapillary renal cell carcinoma tmpte7i6ely_mondo_relaxed.owl hypernephroma|clear cell renal cell carcinoma|adenocarcinoma of kidney|renal cell carcinoma, nonpapillary|clear cell renal cell adenocarcinoma|CCRCC|nonpapillary renal carcinoma 1 locus|RCC Orphanet:422526|ICD10:C64|DOID:0050387|Orphanet:319276|OMIM:144700 https://github.com/monarch-initiative/mondo/issues/2262 owl:Class MONDO:0013124 biolink:NamedThing pelvic organ prolapse, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl pelvic organ prolapse, susceptibility to, 2|Pvop2|pelvic organ prolapse, susceptibility to, type 2 OMIM:613088 owl:Class MONDO:0010247 biolink:NamedThing X-linked cerebral adrenoleukodystrophy A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. tmpte7i6ely_mondo_relaxed.owl adrenoleukodystrophy childhood cerebral form|adrenoleukodystrophy X-linked cerebral form|Addison disease and cerebral sclerosis|melanodermic leukodystrophy|adrenomyeloneuropathy|ALD childhood cerebral form|childhood cerebral ALD|X-linked cerebral adrenoleukodystrophy|Siemerling-Creutzfeldt disease|childhood-onset cerebral X-linked adrenoleukodystrophy|ALD|bronze Schilder disease|adrenoleukodystrophy Orphanet:139396|UMLS:CN036464|OMIM:300100|Orphanet:43|UMLS:CN199389|ICD10:E71.3|GARD:0009412|Orphanet:139399 https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy owl:Class MONDO:0003052 biolink:NamedThing granulomatous endometritis Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. tmpte7i6ely_mondo_relaxed.owl granulomatous endometritis DOID:4561|UMLS:C1333876|NCIT:C27626 owl:Class MONDO:0033618 biolink:NamedThing Vissers-Bodmer syndrome tmpte7i6ely_mondo_relaxed.owl VIBOS OMIM:619033 owl:Class GO:0004351 biolink:NamedThing glutamate decarboxylase activity Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. tmpte7i6ely_mondo_relaxed.owl L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming)|L-glutamic acid decarboxylase activity|aspartic alpha-decarboxylase|gamma-glutamate decarboxylase activity|L-aspartate-alpha-decarboxylase activity|L-glutamate 1-carboxy-lyase activity|L-glutamate alpha-decarboxylase activity|cysteic acid decarboxylase activity|L-glutamic decarboxylase activity owl:Class ENVO:01000888 biolink:NamedThing area of gramanoid or herbaceous vegetation An area of a planet's surface which is primarily covered by gramanoid or herbaceous vegetation and which is not subject to intensive management by humans. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100003 biolink:NamedThing susceptibility to angioedema induced by ACE inhibitors An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema. tmpte7i6ely_mondo_relaxed.owl OMIM:300909 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2760 owl:Class MONDO:0005670 biolink:NamedThing blackwater fever A complication of malaria resulting from hemolysis. tmpte7i6ely_mondo_relaxed.owl blackwater fever|malarial hemoglobinuria|hemoglobinuric, malaria|Black water fever EFO:0007172|UMLS:C0005681|SCTID:56625005|NCIT:C34426|ICD9:084.8|DOID:14068|MESH:D001742 owl:Class GO:0060795 biolink:NamedThing cell fate commitment involved in formation of primary germ layer The commitment of cells to specific cell fates of the endoderm, ectoderm, or mesoderm as a part of gastrulation. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010156 biolink:NamedThing Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spastic paraplegia Troyer type|spastic paraplegia 20, autosomal recessive|spastic paraplegia type 20|spastic paraplegia 20 (Troyer syndrome)|autosomal recessive spastic paraplegia type 20|autosomal recessive spastic paraplegia 20|childhood-onset spastic paraparesis with distal muscle wasting|hereditary spastic paraplegia 20|Troyer syndrome|SPG20|spastic paraparesis, childhood-onset, with distal muscle wasting|spastic paraplegia, autosomal recessive, Troyer type|childhood-onset spastic paraparesis-distal muscle wasting syndrome|Cross-McKusick syndrome|spastic paraplegia 20 UMLS:C0393559|SCTID:230264003|OMIM:275900|MESH:C536858|ICD9:335.29|GARD:0005372|DOID:0050886|ICD10:G11.4|Orphanet:101000 https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome owl:Class MONDO:0010365 biolink:NamedThing myopathy, congenital, with fiber-type disproportion, X-linked tmpte7i6ely_mondo_relaxed.owl myopathy, congenital, with fiber-type disproportion, X-linked|CFTDX UMLS:C2749128|OMIM:300580|DOID:0111226|Orphanet:2020|MESH:C567594 owl:Class MONDO:0007159 biolink:NamedThing arthrogryposis-like hand anomaly-sensorineural deafness syndrome Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. tmpte7i6ely_mondo_relaxed.owl familial hand abnormality and sensori-neural deafness|DA6|arthrogryposis-like hand anomaly and sensorineural deafness|arthrogryposis, distal, type 6|distal arthrogryposis type 6|arthrogryposis and sensorineural deafness GARD:0000784|ICD10:Q68.8|UMLS:C1862471|MESH:C535386|OMIM:108200|Orphanet:1144|SCTID:720515009 owl:Class MONDO:0043317 biolink:NamedThing amyopathic dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. tmpte7i6ely_mondo_relaxed.owl ADM|dermatomyositis sine myositis|amyopathic dermatomyositis UMLS:C0406645|MESH:C538250|GARD:0009907|SCTID:238935002|Orphanet:221 owl:Class MONDO:0054805 biolink:NamedThing microcephaly 22, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MCPH22|microcephaly 22, PRIMARY, autosomal recessive OMIM:617984 owl:Class MONDO:0011412 biolink:NamedThing familial encephalopathy with neuroserpin inclusion bodies tmpte7i6ely_mondo_relaxed.owl encephalopathy, familial, with neuroserpin inclusion bodies|FENIB|encephalopathy, familial, with Collins bodies GARD:0010037|Orphanet:85110|MESH:C536841|SCTID:702421006|DOID:0050831|OMIM:604218|ICD9:348.39|UMLS:C1858680|ICD10:G31.8 https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies owl:Class MONDO:0020409 biolink:NamedThing univentricular heart with single atrio-ventricular valve tmpte7i6ely_mondo_relaxed.owl ICD10:Q20.4|Orphanet:99069 owl:Class NCBITaxon:10298 biolink:NamedThing Human alphaherpesvirus 1 tmpte7i6ely_mondo_relaxed.owl Herpes simplex virus 1|herpes simplex virus type 1 HSV1|herpes simplex virus 1 HSV-1|herpes simplex virus type-1 HSV-1|Human herpesvirus type 1|herpes simplex virus HSV-1|Herpes simplex virus type 1|HSV-1|HSV1|herpes simplex virus type 1 HSV-1|Human herpesvirus 1 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011646 biolink:NamedThing laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy tmpte7i6ely_mondo_relaxed.owl laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy OMIM:606183|MESH:C565252|UMLS:C1853556 owl:Class MONDO:0001465 biolink:NamedThing superficial keratitis tmpte7i6ely_mondo_relaxed.owl ICD10:H16.10|ICD9:370.20|SCTID:27019000|UMLS:C0155074|DOID:12196 owl:Class HGNC:18654 biolink:NamedThing RTTN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010579 biolink:NamedThing X-linked corneal dermoid X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. tmpte7i6ely_mondo_relaxed.owl CND|Guízar Vázquez-Luengas-muñoz syndrome|corneal dystrophy epithelial-short stature syndrome|Guizar-Vazquez Luengas-Munoz syndrome|corneal dermoids and short stature|bilateral corneal dermoids|dermoids of cornea Orphanet:1661|UMLS:C1844671|GARD:0002580|SCTID:715426004|ICD10:Q13.4|OMIM:304730|MESH:C535376 https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea owl:Class MONDO:0021829 biolink:NamedThing agnathia-microstomia-synotia tmpte7i6ely_mondo_relaxed.owl agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment|Plurimalformative syndrome GARD:0010125|MESH:C538059|UMLS:C2931718 https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia owl:Class MONDO:0012297 biolink:NamedThing SPOAN syndrome A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. tmpte7i6ely_mondo_relaxed.owl SPOAN|spastic paraplegia, optic atropy, and neuropathy|spastic paraplegia, optic atrophy, and neuropathy|spastic paraplegia, optic atropy, and neuropathy syndrome|spastic paraplegia-optic atrophy-neuropathy syndrome UMLS:C1836010|OMIM:609541|ICD10:G11.4|MESH:C563702|Orphanet:320406|DOID:0060491 owl:Class MONDO:0009786 biolink:NamedThing optic atrophy 6 tmpte7i6ely_mondo_relaxed.owl OPA6|optic atrophy 6|optic atrophy, congenital or early infantile, autosomal recessive MESH:C537127|DOID:0111435|Orphanet:99012|OMIM:258500|GARD:0010200 owl:Class MONDO:0020352 biolink:NamedThing multiple system atrophy, parkinsonian type Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). tmpte7i6ely_mondo_relaxed.owl MSA-p|MSA, parkinsonian type UMLS:CN207200|ICD10:G23.2|Orphanet:98933 owl:Class MONDO:0008417 biolink:NamedThing sclerocornea, autosomal dominant tmpte7i6ely_mondo_relaxed.owl sclerocornea, autosomal dominant OMIM:181700|Orphanet:91490|MESH:C566692 owl:Class MONDO:0032855 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES|NEDDFSA OMIM:618659 owl:Class MONDO:0015010 biolink:NamedThing atypical glycine encephalopathy Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE. tmpte7i6ely_mondo_relaxed.owl atypical NKA|Glycine encephalopathy with normal serum Glycine|atypical non-ketotic hyperglycinemia|GLYCINE encephalopathy with normal serum GLYCINE OMIM:617301|UMLS:C4310943|Orphanet:289863|ICD10:E72.5 owl:Class MONDO:0013438 biolink:NamedThing pontocerebellar hypoplasia type 2D Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene. tmpte7i6ely_mondo_relaxed.owl SEPSECS non-syndromic pontocerebellar hypoplasia|cerebello-cerebral atrophy, progressive|non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS|PCH2D|pontocerebellar hypoplasia, type 2D|Cerebellocerebral atrophy, progressive|pontocerebellar hypoplasia type 2D DOID:0060270|Orphanet:2524|UMLS:C3151140|OMIM:613811|ICD10:Q04.3 owl:Class MONDO:0008569 biolink:NamedThing thyroid hormone resistance, generalized, autosomal dominant tmpte7i6ely_mondo_relaxed.owl GRTH|Gthr|hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|thyroid hormone resistance, generalized, autosomal dominant|thyroid hormone unresponsiveness MESH:C567934|OMIM:188570|UMLS:C2937288|Orphanet:3221 owl:Class MONDO:0025425 biolink:NamedThing hepatitis, infectious canine A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea. tmpte7i6ely_mondo_relaxed.owl canine infectious Hepatitides|Hepatitis, canine infectious|Hepatitides, canine infectious|infectious Hepatitis, canine|canine infectious Hepatitis|Hepatitides, infectious canine|canine Hepatitis, infectious|infectious canine Hepatitis|canine Hepatitides, infectious|infectious canine Hepatitides|infectious Hepatitides, canine MESH:D006522 owl:Class MONDO:0004764 biolink:NamedThing fibular collateral ligament bursitis tmpte7i6ely_mondo_relaxed.owl DOID:9358|ICD9:726.63|UMLS:C0158316|SCTID:77323000 owl:Class MONDO:0020662 biolink:NamedThing borderline ovarian serous tumor A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. tmpte7i6ely_mondo_relaxed.owl borderline ovarian serous neoplasm|serous neoplasm of ovary with low malignant potential|proliferating serous tumor of the ovary|proliferating ovarian serous tumor|serous ovarian neoplasm of low malignant potential|ovarian serous neoplasm of low malignant potential|borderline ovarian serous tumor|borderline serous tumor of ovary|proliferating ovarian serous neoplasm|serous ovarian tumor of low malignant potential|borderline serous tumor of the ovary|serous tumor of ovary with low malignant potential|proliferating serous tumor of ovary|borderline serous neoplasm of the ovary|ovarian serous tumor of low malignant potential|borderline serous neoplasm of ovary|proliferating serous neoplasm of the ovary|serous neoplasm of the ovary with low malignant potential|serous tumor of the ovary with low malignant potential|proliferating serous neoplasm of ovary NCIT:C5226 owl:Class MONDO:0016534 biolink:NamedThing infundibulo-neurohypophysitis tmpte7i6ely_mondo_relaxed.owl Orphanet:238305|ICD10:E23.6 owl:Class MONDO:0004164 biolink:NamedThing lymphoepithelioma-like acinar prostate adenocarcinoma A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates. tmpte7i6ely_mondo_relaxed.owl acinar prostate adenocarcinoma, lymphoepithelioma-like variant|lymphoepithelioma-like variant acinar prostate adenocarcinoma DOID:7246|UMLS:C1515864|NCIT:C39885 owl:Class HGNC:4553 biolink:NamedThing GPX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007236 biolink:NamedThing branchiootorenal syndrome 1 tmpte7i6ely_mondo_relaxed.owl BOR1|branchiootorenal dysplasia|Melnick-Fraser syndrome|branchiootorenal syndrome 1|branchiootorenal syndrome type 1 Orphanet:107|UMLS:C0265234|DOID:0111423|OMIM:113650 owl:Class MONDO:0011628 biolink:NamedThing propionic acidemia Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. tmpte7i6ely_mondo_relaxed.owl GLYCINEMIA, ketotic|ketotic glycinemia|Propionicacidemia|ketotic hyperglycinemia|propionyl-CoA carboxylase deficiency|ketotic II glycinemia|prop|propionic acidemia|PCC deficiency|propionic aciduria|Glycinemia, ketotic|hyperglycinemia with ketoacidosis and leukopenia|propionyl-Coa carboxylase deficiency NCIT:C85030|Orphanet:35|UMLS:C0268579|MESH:D056693|OMIM:606054|DOID:14701|ICD10:E71.1|ICD10:E71.121|GARD:0000467|SCTID:69080001 https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia owl:Class MONDO:0011283 biolink:NamedThing mitochondrial DNA depletion syndrome 1 tmpte7i6ely_mondo_relaxed.owl Mngie, tymp-related|mitochondrial DNA depletion syndrome 1|myoneurogastrointestinal encephalopathy syndrome|mitochondrial DNA depletion syndrome 1 (MNGIE type)|MTDPS1|Polip syndrome|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|mitochondrial DNA depletion syndrome type 1 DOID:0080119|Orphanet:298|OMIM:603041 owl:Class MONDO:0011250 biolink:NamedThing microcephaly, macrotia, and intellectual disability tmpte7i6ely_mondo_relaxed.owl microcephaly, macrotia, and mental retardation|microcephaly, macrotia, and intellectual disability UMLS:C1865204|OMIM:602555|MESH:C566525 owl:Class NCBITaxon:56251 biolink:NamedThing Plagiorchioidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0060713 biolink:NamedThing deafness, congenital heart defects, and posterior embryotoxon tmpte7i6ely_mondo_relaxed.owl DCHE|deafnes, congenital heart defects, and posterior embryotoxon MESH:C566604|OMIM:617992 owl:Class MONDO:0004520 biolink:NamedThing intratubular embryonal carcinoma Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.) tmpte7i6ely_mondo_relaxed.owl stage 0 testicular embryonal carcinoma aJCC v7|stage 0 testicular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6 and v7|intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6 NCIT:C7325|UMLS:C1336096|DOID:8275 owl:Class MONDO:0020569 biolink:NamedThing intermediate DEND syndrome Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy. tmpte7i6ely_mondo_relaxed.owl developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form UMLS:CN207495|Orphanet:99989 owl:Class HGNC:3383 biolink:NamedThing STOM tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7707 biolink:NamedThing NDUFS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12012 biolink:NamedThing TPM3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011126 biolink:NamedThing acute insulin response tmpte7i6ely_mondo_relaxed.owl acute insulin response|Air OMIM:601676 owl:Class UBERON:0001955 biolink:NamedThing epithelium of respiratory bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100086 biolink:NamedThing perinatal disease A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth. tmpte7i6ely_mondo_relaxed.owl perinatal disorder|perinatal condition http://orcid.org/0000-0001-5208-3432 owl:Class HP:0001927 biolink:NamedThing Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. tmpte7i6ely_mondo_relaxed.owl Red cell acanthocytosis|Acanthocytes SNOMEDCT_US:250249008|UMLS:C0687751 HP:0005552 human_phenotype owl:Class HGNC:6572 biolink:NamedThing LGI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013831 biolink:NamedThing keratoconus 6 tmpte7i6ely_mondo_relaxed.owl KTCN6|keratoconus 6 OMIM:614623|UMLS:C3553306 owl:Class MONDO:0033009 biolink:NamedThing Galloway-Mowat syndrome 5 tmpte7i6ely_mondo_relaxed.owl Galloway-Mowat syndrome 5|GAMOS5 UMLS:CN570507|DOID:0080247|OMIM:617731|Orphanet:2065 owl:Class CL:4006000 biolink:NamedThing fibroblast of breast A fibroblast that is part of the breast. tmpte7i6ely_mondo_relaxed.owl breast fibroblast owl:Class PATO:0000411 biolink:NamedThing circular A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. tmpte7i6ely_mondo_relaxed.owl rounded|round owl:Class MONDO:0012158 biolink:NamedThing keratoconus 2 tmpte7i6ely_mondo_relaxed.owl KTCN2|keratoconus 2 UMLS:C1837090|MESH:C563827|OMIM:608932 owl:Class MONDO:0032783 biolink:NamedThing aortic valve disease 3 tmpte7i6ely_mondo_relaxed.owl AOVD3|AORTIC VALVE DISEASE 3 OMIM:618496 owl:Class MONDO:0004977 biolink:NamedThing angioimmunoblastic T-cell lymphoma A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive. tmpte7i6ely_mondo_relaxed.owl T-cell lymphoma, AILD type|angioimmunoblastic lymphadenopathy type T-cell lymphoma|lymphogranulomatosis X|angioimmunoblastic lymphadenopathy with Dysproteinemia|AILD|AITL|angioimmunoblastic T-cell lymphoma|angioimmunoblastic lymphadenopathy|immunoblastic lymphadenopathy|AILT EFO:0000255|MedDRA:10002449|MEDDRA:10002449|NCIT:C7528|SCTID:413537009|ICDO:9767/1|ICDO:9705/3|DOID:0111147|Orphanet:86886|GARD:0011973|ICD10:C86.5|ONCOTREE:AITL|ICD9:202.70|UMLS:C0020981|GARD:11973|MESH:D007119 https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma owl:Class MONDO:0005194 biolink:NamedThing Rotavirus infection Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. tmpte7i6ely_mondo_relaxed.owl Rotavirus disease or disorder|Rotavirus caused disease or disorder|Rotavirus infectious disease ICD9:078.89|EFO:0002622|UMLS:C0035869|SCTID:18624000|MESH:D012400 owl:Class MONDO:0032568 biolink:NamedThing intellectual developmental disorder with macrocephaly, seizures, and speech delay tmpte7i6ely_mondo_relaxed.owl IDDMSSD|INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY OMIM:618158 owl:Class MONDO:0010366 biolink:NamedThing FG syndrome 5 tmpte7i6ely_mondo_relaxed.owl FGS5|FG syndrome 5 UMLS:C1845119|OMIM:300581|MESH:C564480|Orphanet:323 owl:Class MONDO:0008364 biolink:NamedThing Raynaud disease An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. tmpte7i6ely_mondo_relaxed.owl Raynaud disease|Raynaud syndrome|secondary Raynaud's disease|Raynaud's syndrome|secondary Raynaud phenomenon|secondary Raynaud disease|Raynaud's syndrome (disorder) [ambiguous]|cold fingers, hereditary|secondary Raynaud's phenomenon|Raynaud's disease NCIT:C116359|SCTID:195295006|ICD9:443.0|DOID:10300|OMIM:179600|EFO:1001145|ICD10:I73.0|UMLS:C0034734|MESH:D011928 owl:Class MONDO:0020804 biolink:NamedThing basal cell carcinoma A carcinoma involving the basal cells. tmpte7i6ely_mondo_relaxed.owl epithelioma, basal cell|malignant basal cell neoplasm|basal cell cancer NCIT:C7586|MESH:D002280|NCIT:C156767 owl:Class MONDO:0003152 biolink:NamedThing adult brainstem gliosarcoma tmpte7i6ely_mondo_relaxed.owl adult brainstem gliosarcoma|adult brain stem gliosarcoma DOID:4812|NCIT:C9370|UMLS:C1377914 owl:Class MONDO:0010981 biolink:NamedThing absent tibia-polydactyly-arachnoid cyst syndrome Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. tmpte7i6ely_mondo_relaxed.owl Holmes-Collins syndrome|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies|tibia absent polydactyly arachnoid cyst|tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies|Holmes Collins syndrome MESH:C563403|OMIM:601027|Orphanet:3328|SCTID:733068001|GARD:0005210 https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst owl:Class MONDO:0100080 biolink:NamedThing cardioectodermal syndrome Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. tmpte7i6ely_mondo_relaxed.owl cardio-ectodermal syndrome http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0027451 biolink:NamedThing autosomal recessive cutis laxa type 2D An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13. tmpte7i6ely_mondo_relaxed.owl cutis laxa, autosomal recessive, type IID|autosomal recessive cutis laxa type IID|cutis laxa, autosomal recessive, type 2D|ARCL2D OMIM:617403|Orphanet:357074|DOID:0070129|ICD10:Q82.8 owl:Class MONDO:0012340 biolink:NamedThing celiac disease, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl CELIAC2|gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2 OMIM:609754 owl:Class MONDO:0017511 biolink:NamedThing split hand, unilateral Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpte7i6ely_mondo_relaxed.owl Orphanet:295120|ICD10:Q71.6 owl:Class GO:0009135 biolink:NamedThing purine nucleoside diphosphate metabolic process The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. tmpte7i6ely_mondo_relaxed.owl purine nucleoside diphosphate metabolism owl:Class UBERON:0007644 biolink:NamedThing thoracic lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:35623 biolink:NamedThing anticonvulsant A drug used to prevent seizures or reduce their severity. tmpte7i6ely_mondo_relaxed.owl anticonvulsants|anticonvulsive agent|antiepileptique|antiepileptic|Antikonvulsiva|antiepileptiques|Antiepileptikum|anti-convulsant|anti-convulsants|anti-convulsive agent|anti-convulsive agents|antiepileptics|anticonvulsive agents|Antiepileptika|Antikonvulsivum owl:Class HP:0000175 biolink:NamedThing Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). tmpte7i6ely_mondo_relaxed.owl Cleft of hard and soft palate|Cleft hard and soft palate|Cleft of palate|Cleft palate|Palatoschisis|Uranostaphyloschisis|Cleft secondary palate|Cleft roof of mouth MSH:D002972|Fyler:4876|UMLS:C2981150|SNOMEDCT_US:63567004|SNOMEDCT_US:87979003|UMLS:C0008925 Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. HP:0410004 human_phenotype owl:Class MONDO:0015464 biolink:NamedThing craniofrontonasal dysplasia-Poland anomaly syndrome Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far. tmpte7i6ely_mondo_relaxed.owl Webster-Deming syndrome ICD10:Q87.8|SCTID:720757001|UMLS:CN199598|Orphanet:1521 owl:Class MONDO:0014486 biolink:NamedThing intellectual disability, autosomal dominant 30 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant type 30|mental retardation, autosomal dominant 30|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11|ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome|intellectual disability, autosomal dominant type 30|autosomal dominant mental retardation 30|MRD30|intellectual disability, autosomal dominant 30|autosomal dominant intellectual disability 30|autosomal dominant non-syndromic intellectual disability 30 GARD:0013136|UMLS:C4015167|OMIM:616083|DOID:0070060 owl:Class MONDO:0000674 biolink:NamedThing mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. tmpte7i6ely_mondo_relaxed.owl DOID:0060144 owl:Class OBO:CHR_9606-chr3q27 biolink:NamedThing 3q27 (Human) tmpte7i6ely_mondo_relaxed.owl 188200000 183000000 hg38 owl:Class MONDO:0013522 biolink:NamedThing dyskeratosis congenita, autosomal dominant 3 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12. tmpte7i6ely_mondo_relaxed.owl autosomal dominant dyskeratosis congenita 3|DKCA3|dyskeratosis congenita, autosomal dominant type 3|dyskeratosis congenita, autosomal dominant 3 DOID:0070018|Orphanet:1775|UMLS:C3151445|Orphanet:3322|OMIM:613990 owl:Class MONDO:0011765 biolink:NamedThing multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. tmpte7i6ely_mondo_relaxed.owl Polyepiphyseal dysplasia type 5|MATN3 multiple epiphyseal dysplasia (disease)|MED5|epiphyseal dysplasia, multiple, type 5|EDM5|epiphyseal dysplasia, multiple, 5|multiple epiphyseal dysplasia, MATN3-related|Microepiphyseal dysplasia, bilateral hereditary|multiple epiphyseal dysplasia (disease) caused by mutation in MATN3|multiple epiphyseal dysplasia 5|epiphyseal dysplasia multiple 5|BHMED|bilateral hereditary micro-epiphyseal dysplasia|multiple epiphyseal dysplasia, MATN3 related Orphanet:93311|DOID:0070299|MESH:C535505|UMLS:C4275060|OMIM:607078|ICD10:Q77.3|SCTID:715674008|GARD:0009794|UMLS:C1846843 owl:Class MONDO:0017942 biolink:NamedThing Hendra virus infection Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. tmpte7i6ely_mondo_relaxed.owl Hendra henipavirus infectious disease|Hendra henipavirus caused disease or disorder|Hendra henipavirus disease or disorder Orphanet:324632|ICD10:B33.8 owl:Class NCBITaxon:2732515 biolink:NamedThing Blubervirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010280 biolink:NamedThing ptosis, hereditary congenital 2 tmpte7i6ely_mondo_relaxed.owl ptosis, hereditary congenital type 2|ptosis, hereditary congenital 2|Ptos2|ptosis, X-linked MESH:C564553|UMLS:C1846128|Orphanet:91411|OMIM:300245 owl:Class MONDO:0001268 biolink:NamedThing gingival recession A loss of gum tissue resulting in an exposure of the roots of the teeth. tmpte7i6ely_mondo_relaxed.owl gingival recession, localized|gingival recession|minimal gingival recession|localized gingival recession|moderate gingival recession|gingival recession, unspecified|severe gingival recession NCIT:C82068|ICD9:523.24|MESH:D005889|ICD10:K06.0|ICD9:523.20|ICD9:523.2|UMLS:C0266916|UMLS:C0017572|ICD9:523.21|ICD9:523.23|ICD9:523.22|SCTID:59898000|DOID:1134 owl:Class PATO:0002255 biolink:NamedThing grooved Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels. tmpte7i6ely_mondo_relaxed.owl channeled|creased owl:Class HGNC:4556 biolink:NamedThing GPX4 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:976 biolink:NamedThing Bacteroidetes tmpte7i6ely_mondo_relaxed.owl Bacteroidota|Bacteroidaeota|CFB group|Bacteroides-Cytophaga-Flexibacter group|BCF group|CFB group bacteria|Cytophaga-Flexibacter-Bacteroides phylum PMID:11542017|GC_ID:11|PMID:26654112|PMID:29458499|PMID:28066339|PMID:11541229 NCBITaxon:171554 ncbi_taxonomy owl:Class MONDO:0008556 biolink:NamedThing thrombocytopenia, cyclic tmpte7i6ely_mondo_relaxed.owl thrombocytopenia cyclic|thrombocytopenia, cyclic|cyclic thrombocytopenia GARD:0009862|ICD9:287.39|SCTID:48788004|MESH:C536899|OMIM:188020|UMLS:C0272282 https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia owl:Class HGNC:1699 biolink:NamedThing CD79B tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004850 biolink:NamedThing lymph node endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012028 biolink:NamedThing autoimmune disease, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl vitiligo-associated multiple autoimmune disease susceptibility 4|AIS3|autoimmune disease, susceptibility to, 3|autoimmune disease susceptibility locus, chromosome 8-related OMIM:608392 owl:Class MONDO:0026724 biolink:NamedThing Paganini-Miozzo syndrome tmpte7i6ely_mondo_relaxed.owl MRXSPM|Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type|PAGANINI-MIOZZO SYNDROME OMIM:301025 owl:Class MONDO:0017565 biolink:NamedThing macrodactyly of fingers, bilateral tmpte7i6ely_mondo_relaxed.owl macrodactyly of hand, bilateral Orphanet:295241|ICD10:Q74.0 owl:Class GO:0060054 biolink:NamedThing positive regulation of epithelial cell proliferation involved in wound healing Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030378 biolink:NamedThing combined oxidative phosphorylation deficiency 53 tmpte7i6ely_mondo_relaxed.owl COXPD53 OMIM:619423 owl:Class MONDO:0007612 biolink:NamedThing gingival fibromatosis-progressive deafness syndrome Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl GFD|gingival fibromatosis with progressive deafness|fibromatosis, gingival, with progressive deafness|familial gingival fibromatosis associated with progressive deafness|gingival fibromatosis with sensorineural hearing loss|Jones syndrome UMLS:C1851112|GARD:0003056|MESH:C535886|Orphanet:2027|OMIM:135550|SCTID:722449007|ICD10:H90.3 owl:Class MONDO:0019482 biolink:NamedThing dendritic cell sarcoma not otherwise specified tmpte7i6ely_mondo_relaxed.owl ICD10:C96.4|Orphanet:86903 owl:Class MONDO:0033373 biolink:NamedThing developmental and epileptic encephalopathy, 64 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 64|DEE64|EIEE64 OMIM:618004|UMLS:CN248512 owl:Class MONDO:0030074 biolink:NamedThing spondylometaphyseal dysplasia with corneal dystrophy tmpte7i6ely_mondo_relaxed.owl spondylometaphyseal dysplasia with corneal dystrophy|SMDCD|SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY OMIM:618961 owl:Class MONDO:0004644 biolink:NamedThing subacute monocytic leukemia tmpte7i6ely_mondo_relaxed.owl ICD9:206.2|SCTID:188746008|UMLS:C0152275|DOID:8696|ICD9:206.20 owl:Class HP:0001967 biolink:NamedThing Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. tmpte7i6ely_mondo_relaxed.owl Mesangial sclerosis|Diffuse mesangial sclerosis glomerulopathy SNOMEDCT_US:111406002|UMLS:C0268747|MSH:C537346 This finding can be demonstrated by renal biopsy. HP:0004728 human_phenotype owl:Class MONDO:0018679 biolink:NamedThing primary cutaneous plasmacytosis tmpte7i6ely_mondo_relaxed.owl Orphanet:451602|ICD10:L98.6 owl:Class GO:2001223 biolink:NamedThing negative regulation of neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration. tmpte7i6ely_mondo_relaxed.owl negative regulation of neuronal migration|negative regulation of neuron chemotaxis|negative regulation of neuron guidance owl:Class MONDO:0003383 biolink:NamedThing fallopian tube clear cell adenocarcinoma A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells. tmpte7i6ely_mondo_relaxed.owl clear cell carcinoma of fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell carcinoma of the fallopian tube|clear cell adenocarcinoma of fallopian tube|fallopian tube clear cell carcinoma|clear cell adenocarcinoma of the fallopian tube UMLS:C1333591|DOID:5301|NCIT:C6280 owl:Class UBERON:0035045 biolink:NamedThing parotid gland intralobular duct tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001004 biolink:NamedThing slate pneumoconiosis Pneumoconiosis caused by exposure to slate dust. tmpte7i6ely_mondo_relaxed.owl Schistosis DOID:10330|UMLS:C0340186|NCIT:C35397|SCTID:1259003|ICD9:502 owl:Class NCBITaxon:1502 biolink:NamedThing Clostridium perfringens tmpte7i6ely_mondo_relaxed.owl Bacterium welchii|Bacillus perfringens|Clostridium plagarum|'Clostridium plagarum' PMID:184898|PMID:1374625|GC_ID:11 NCBITaxon:1683536 ncbi_taxonomy owl:Class MONDO:0001326 biolink:NamedThing dental pulp necrosis Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. tmpte7i6ely_mondo_relaxed.owl pulp necrosis|necrosis of pulp|necrotic pulp|necrosis of the pulp UMLS:C0011407|SCTID:42711005|MESH:D003790|ICD9:522.1|DOID:11623|ICD10:K04.1 owl:Class MONDO:0023530 biolink:NamedThing kallikrein hypertension tmpte7i6ely_mondo_relaxed.owl kallikrein attenuated hypertension HGNC:6357|GARD:0006811|MESH:C537707|UMLS:C1171349 https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension owl:Class MONDO:0040501 biolink:NamedThing ehlers-danlos syndrome, arthrochalasia type, 2 tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type VIIb, Autosomal dominant|EDSARTH2|EDS VIIB|EDS 7B|Ehlers-Danlos syndrome, arthrochalasia type, 2 OMIM:617821 owl:Class MONDO:0005937 biolink:NamedThing REM sleep behavior disorder A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) tmpte7i6ely_mondo_relaxed.owl rapid eye movement sleep behavior disorder EFO:0007462|SCTID:415238003|ICD9:327.42|DOID:9091|MESH:D020187|ICD9:780.59|ICD10:G47.52 owl:Class MONDO:0003859 biolink:NamedThing bilateral meningioma of optic nerve Meningiomas that affects both optic nerves. tmpte7i6ely_mondo_relaxed.owl bilateral optic nerve meningioma|bilateral meningioma of the optic nerve UMLS:C1332551|DOID:6335|NCIT:C5304 owl:Class UBERON:0001303 biolink:NamedThing left uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004440 biolink:NamedThing pineal region meningioma A meningioma that affects the pineal gland. tmpte7i6ely_mondo_relaxed.owl pineal body meningioma (disease)|meningioma of pineal region|pineal gland meningioma|pineal area meningioma|meningioma of the pineal gland|meningioma of the pineal area|meningioma of pineal gland|meningioma of pineal area|meningioma of the pineal region|pineal meningioma|meningioma (disease) of pineal body UMLS:C1335418|DOID:8031|NCIT:C6756 owl:Class MONDO:0024530 biolink:NamedThing Bethlem myopathy 1 tmpte7i6ely_mondo_relaxed.owl myopathy, benign congenital, with contractures|Bethlem myopathy 1|BTHLM1|Bethlem myopathy|muscular dystrophy, benign congenital Orphanet:610|OMIM:158810|UMLS:C1834674|UMLS:CN029274 owl:Class HGNC:29090 biolink:NamedThing SMCHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015741 biolink:NamedThing distal trisomy 18q tmpte7i6ely_mondo_relaxed.owl distal duplication 18q|trisomy 18qter|distal trisomy type 18q|telomeric duplication 18q Orphanet:1716|ICD10:Q92.3 owl:Class MONDO:0032659 biolink:NamedThing mucocutaneous ulceration, chronic tmpte7i6ely_mondo_relaxed.owl MUCOCUTANEOUS ULCERATION, CHRONIC|CMCU OMIM:618287 owl:Class HGNC:7671 biolink:NamedThing NCOA4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002757 biolink:NamedThing acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. tmpte7i6ely_mondo_relaxed.owl ICD9:381.06|SCTID:17866004|UMLS:C0155420|DOID:3728 owl:Class MONDO:0002737 biolink:NamedThing acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. tmpte7i6ely_mondo_relaxed.owl ICD9:381.03|UMLS:C0395865|DOID:3696|SCTID:77478005 owl:Class MONDO:0009568 biolink:NamedThing mast syndrome Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. tmpte7i6ely_mondo_relaxed.owl mast syndrome|autosomal recessive spastic paraplegia 21|Mast syndrome|hereditary spastic paraplegia 21|autosomal recessive spastic paraplegia type 21|SPG21|spastic paraplegia 21, autosomal recessive Orphanet:101001|UMLS:C1855346|MESH:C565409|DOID:0060245|SCTID:764734003|ICD10:G11.4|OMIM:248900 owl:Class MONDO:0001297 biolink:NamedThing cardiac tamponade Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. tmpte7i6ely_mondo_relaxed.owl rose's tamponade|pericardial tamponade DOID:115|UMLS:C0007177|MESH:D002305|EFO:1001285|ICD10:I31.4|SCTID:35304003|ICD9:423.3|NCIT:C50481 owl:Class MONDO:0017188 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency tmpte7i6ely_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form ICD10:E16.1|OMIM:601820|Orphanet:276603 owl:Class HGNC:1386 biolink:NamedThing CABP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001351 biolink:NamedThing uterine adnexa cancer tmpte7i6ely_mondo_relaxed.owl ICD10:C57.4|DOID:11747|ICD9:183|ICD9:183.9 Editor note: TODO add uberon class owl:Class NCBITaxon:2560547 biolink:NamedThing La Crosse orthobunyavirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:4122 biolink:NamedThing GALNS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022821 biolink:NamedThing congenital benign spinal muscular atrophy dominant tmpte7i6ely_mondo_relaxed.owl GARD:0001474 https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant owl:Class MONDO:0017968 biolink:NamedThing 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. tmpte7i6ely_mondo_relaxed.owl 46,XY ovotesticular DSD UMLS:CN227231|Orphanet:325345|SCTID:763683004 owl:Class HGNC:15561 biolink:NamedThing IL36RN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005811 biolink:NamedThing infectious myxomatosis A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. tmpte7i6ely_mondo_relaxed.owl MESH:D009234|EFO:0007327|UMLS:C0027152 owl:Class MONDO:0030014 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 26 tmpte7i6ely_mondo_relaxed.owl MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26|muscular dystrophy, limb-girdle, autosomal recessive 26|LGMDR26 OMIM:618848 owl:Class NCBITaxon:27994 biolink:NamedThing Theileriidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043377 biolink:NamedThing juvenile spondyloarthropathy A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. tmpte7i6ely_mondo_relaxed.owl juvenile Spondyloarthritis|juvenile spondyloarthropathy|JSpA SCTID:239806000|UMLS:C0409676|GARD:0012939|NCIT:C114347 owl:Class NCBITaxon:740972 biolink:NamedThing Tritrichomonadida tmpte7i6ely_mondo_relaxed.owl Trichomonadida Kirby, 1947, emend. Brugerolle and Patterson, 2001 GC_ID:1|PMID:20093080 ncbi_taxonomy owl:Class NCBITaxon:2701 biolink:NamedThing Gardnerella tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class CHEBI:51447 biolink:NamedThing organic univalent group tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001630 biolink:NamedThing branch retinal artery occlusion An occlusion of a branch of the retinal artery. tmpte7i6ely_mondo_relaxed.owl arterial retinal branch occlusion|retinal arterial branch occlusion ICD9:362.32|SCTID:50821009|NCIT:C34436|MESH:D015356|ICD10:H34.23|DOID:13094|UMLS:C0006123 Editor note: see https://github.com/obophenotype/human-phenotype-ontology/issues/4266 owl:Class MONDO:0014582 biolink:NamedThing congenital myasthenic syndrome 2C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|CMS2C|congenital myasthenic syndrome type 2C UMLS:C4225373|DOID:0110680|OMIM:616314|Orphanet:590 owl:Class HGNC:11781 biolink:NamedThing TGM5 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11135 biolink:NamedThing Feline infectious peritonitis virus tmpte7i6ely_mondo_relaxed.owl FIPV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:12663 biolink:NamedThing Feline coronavirus tmpte7i6ely_mondo_relaxed.owl FECV|Feline enteric coronavirus|Feline enteric coronavirus FECV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013668 biolink:NamedThing tetrasomy 18p Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. tmpte7i6ely_mondo_relaxed.owl Isochromosome 18p|chromosome 18p tetrasomy|tetrasomy type 18p|tetrasomy chromosome 18p|Isochromosome 18P syndrome|tetrasomy 18p|tetrasomy type 18P UMLS:C0795868|GARD:0000035|Orphanet:3307|MESH:C538306|ICD10:Q99.8|ICD9:758.89|SCTID:698849002|OMIM:614290 owl:Class MONDO:0020403 biolink:NamedThing congenital mitral valve agenesis Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation. tmpte7i6ely_mondo_relaxed.owl Orphanet:99062|ICD10:Q23.3 owl:Class MONDO:0017943 biolink:NamedThing autoerythrocyte sensitization syndrome tmpte7i6ely_mondo_relaxed.owl Autoerythrocyte sensitization purpura|GDS|Autoerythrocyte sensitization|psychogenic purpura|painful bruising syndrome|Gardner-Diamond syndrome ICD10:D69.2|UMLS:C0301928|GARD:0006481|SCTID:275446004|ICD9:287.2|Orphanet:324636|MESH:C535645 owl:Class CHEBI:33452 biolink:NamedThing benzylic group Arylmethyl groups and derivatives formed by substitution: ArCR2-. tmpte7i6ely_mondo_relaxed.owl benzylic group|groupe benzylique|benzylic groups owl:Class MONDO:0016318 biolink:NamedThing progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). tmpte7i6ely_mondo_relaxed.owl leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis|PML MESH:D007968|EFO:0007455|ICD9:046.3|MedDRA:10036807|SCTID:22255007|ICD10:A81.2|UMLS:C0023524|DOID:643|Orphanet:217260|GARD:0007468|NCIT:C26815 https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy owl:Class CHEBI:33252 biolink:NamedThing atomic nucleus A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. tmpte7i6ely_mondo_relaxed.owl Atomkern|nucleo|nucleo atomico|nucleus atomi|noyau atomique|nuclei|nucleus|Kern|noyau owl:Class CHEBI:36347 biolink:NamedThing nuclear particle A nucleus or any of its constituents in any of their energy states. tmpte7i6ely_mondo_relaxed.owl nuclear particle owl:Class MONDO:0006094 biolink:NamedThing Askin tumor A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. tmpte7i6ely_mondo_relaxed.owl small cell tumor of thoracopulmonary region|peripheral neuroectodermal tumor of thoracopulmonary region|Askin's tumor|PNET of thoracopulmonary region|Askin tumor DOID:0050608|ICDO:9365/3|UMLS:C0877849|NCIT:C7542|EFO:1000095 Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling owl:Class MONDO:0010551 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. tmpte7i6ely_mondo_relaxed.owl CMT3X|Charcot-Marie-Tooth disease, X-linked recessive, 3|Charcot-Marie-Tooth disease X-linked recessive type 3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3|Charcot Marie Tooth disease X-linked recessive 3|CMTX 3|CMTX3 OMIM:302802|GARD:0001244|UMLS:C1844865|MESH:C535303|ICD10:G60.0|DOID:0110211|SCTID:763458005|Orphanet:101077 owl:Class MONDO:0011265 biolink:NamedThing tooth agenesis, selective, 2 tmpte7i6ely_mondo_relaxed.owl hypodontia/oligodontia 2|tooth agenesis, selective, 2|STHAG2 UMLS:C1865092|OMIM:602639|MESH:C566513 owl:Class MONDO:0006051 biolink:NamedThing postweaning multisystemic wasting syndrome Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus. tmpte7i6ely_mondo_relaxed.owl EFO:1000048 owl:Class MONDO:0009588 biolink:NamedThing Langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. tmpte7i6ely_mondo_relaxed.owl mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|LMD|mesomelic dwarfism, Langer type|Langer mesomelic dysplasia|Langer syndrome|dyschondrosteosis, homozygous|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|Langer type mesomelic dysplasia ICD9:756.59|UMLS:C0432230|OMIM:249700|GARD:0003553|MESH:C537267|NCIT:C126876|SCTID:38494008|ICD10:Q87.1|Orphanet:2632 https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia owl:Class NCBITaxon:5597 biolink:NamedThing Scedosporium boydii tmpte7i6ely_mondo_relaxed.owl Allescheria boydii|Pseudallescheria boydii|Cephalosporium boydii GC_ID:1|PMID:18077629 ncbi_taxonomy owl:Class MONDO:0004158 biolink:NamedThing pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component. tmpte7i6ely_mondo_relaxed.owl pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic mucinous cystic neoplasm with an associated invasive carcinoma|pancreatic invasive mucinous cystadenocarcinoma DOID:7236|UMLS:C1518870|NCIT:C41246|ICDO:8470/3 owl:Class MONDO:0016059 biolink:NamedThing cleft lip/palate-deafness-sacral lipoma syndrome Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. tmpte7i6ely_mondo_relaxed.owl Lowry-Yong syndrome UMLS:CN200748|ICD10:Q87.8|Orphanet:2003|SCTID:716007007 owl:Class CL:2000040 biolink:NamedThing bladder microvascular endothelial cell Any microvascular endothelial cell that is part of a urinary bladder. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-07-09T00:04:47Z cell owl:Class MONDO:0019655 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis tmpte7i6ely_mondo_relaxed.owl sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis UMLS:CN206528|ICD10:N04.1|Orphanet:93218 owl:Class MONDO:0032940 biolink:NamedThing retinitis pigmentosa 88 tmpte7i6ely_mondo_relaxed.owl RP88|RETINITIS PIGMENTOSA 88 OMIM:618826 owl:Class UBERON:0002237 biolink:NamedThing true rib tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009994 biolink:NamedThing alveolar rhabdomyosarcoma A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. tmpte7i6ely_mondo_relaxed.owl arms|rhabdomyosarcoma 2|monomorphous round cell rhabdomyosarcoma|alveolar rhabdomyosarcoma|RMS2|alveolar childhood rhabdomyosarcoma|rhabdomyosarcoma alveolar|alveolar rhabdomyosarcoma (disease)|rhabdomyosarcoma, alveolar|rhabdomyosarcoma type 2|pediatric alveolar rhabdomyosarcoma|alveolar rhabdomyosarcoma (morphologic abnormality) alveolar rhabdomyosarcoma (disease) OMIM:268220|UMLS:C0206655|GARD:0004701|ONCOTREE:ARMS|Orphanet:99756|Orphanet:780|HP:0006779|ICD9:171.9|SCTID:404053004|ICDO:8920/3|ICD10:C49.9|EFO:0000248|MESH:D018232|DOID:4051|MedDRA:10065867|NCIT:C3749 owl:Class MONDO:0021553 biolink:NamedThing transverse myelitis tmpte7i6ely_mondo_relaxed.owl Transverse Myelopathy Syndrome|Transverse Myelitis|Myelitis, Transverse|Transverse myelitis|transverse myelitis|transverse myelopathy syndrome|Transverse Myelopathy Syndromes|Transverse myelopathy syndrome ICD9:323.9|SCTID:16631009|UMLS:C0026976|GARD:0007796 owl:Class MONDO:0009375 biolink:NamedThing hymen, imperforate tmpte7i6ely_mondo_relaxed.owl hymen, imperforate MESH:C562397|ICD10:Q52.3|SCTID:65937002|OMIM:237100|ICD9:752.42 owl:Class UBERON:0003555 biolink:NamedThing spinal cord pia mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014653 biolink:NamedThing retinitis pigmentosa 72 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in ZNF408|RP72|ZNF408 retinitis pigmentosa|retinitis pigmentosa type 72|retinitis pigmentosa 72 OMIM:616469|ICD10:H35.5|DOID:0110395|UMLS:C4225315 owl:Class MONDO:0014184 biolink:NamedThing specific language impairment 5 A communication disorder that involves the processing of linguistic information. tmpte7i6ely_mondo_relaxed.owl specific language impairment 5|SLI5|specific language impairment type 5 OMIM:615432|UMLS:C3809483 owl:Class MONDO:0016276 biolink:NamedThing high-grade neuroendocrine carcinoma of the cervix uteri High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. tmpte7i6ely_mondo_relaxed.owl poorly differentiated neuroendocrine cervical carcinoma|high-grade neuroendocrine carcinoma of the uterine cervix|poorly differentiated neuroendocrine carcinoma of the cervix uteri ICD10:C53.0|Orphanet:213777|ICD10:C53.1|ICD10:C53.8|UMLS:CN201066 owl:Class MONDO:0012735 biolink:NamedThing Temple-Baraitser syndrome A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. tmpte7i6ely_mondo_relaxed.owl mental retardation, severe, and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|intellectual disability, severe, and absent nails of hallux and pollex|severe mental retardation and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|Temple-Baraitser syndrome|TMBTS ICD10:Q87.2|OMIM:611816|GARD:0009441|Orphanet:420561|MESH:C567516|UMLS:C2678486|EFO:0009062 owl:Class MONDO:0003172 biolink:NamedThing glomeruloid hemangioma tmpte7i6ely_mondo_relaxed.owl UMLS:C1304511|NCIT:C27505|SCTID:403976007|DOID:486 owl:Class MONDO:0037256 biolink:NamedThing serous neoplasm tmpte7i6ely_mondo_relaxed.owl serous neoplasm UMLS:C1335951|NCIT:C7074 owl:Class MONDO:0032723 biolink:NamedThing immunodeficiency 60 tmpte7i6ely_mondo_relaxed.owl Immunodeficiency and Autoimmunity, Bach2-Related|IMMUNODEFICIENCY 60|IMD60 OMIM:618394 owl:Class GO:0044107 biolink:NamedThing cellular alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054727 biolink:NamedThing spermatogenic failure 23 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 23|SPGF23 DOID:0070181|UMLS:C4540185|OMIM:617707 owl:Class HGNC:10023 biolink:NamedThing RIT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010491 biolink:NamedThing X-linked acrogigantism due to Xq26 microduplication tmpte7i6ely_mondo_relaxed.owl chromosome Xq26 microduplication syndrome|X-LAG (X-linked acrogigantism) due to dup(X)q(26)|X-linked acrogigantism|familial infantile gigantism due to dup(X)q(26)|familial infantile gigantism due to Xq26 microduplication|chromosome Xq26.3 DUPLICATION syndrome UMLS:CN237731|SCTID:768472004|Orphanet:448372|OMIM:300942|Orphanet:300373|UMLS:C3891556|ICD10:E22.0 owl:Class MONDO:0015850 biolink:NamedThing transverse vaginal septum tmpte7i6ely_mondo_relaxed.owl Orphanet:180160|ICD10:Q52.1|HP:0000145|ICD10:Q52.11 owl:Class MONDO:0020980 biolink:NamedThing hair nevus A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion. tmpte7i6ely_mondo_relaxed.owl nevoid hypertrichosis|hair nevus|hairy nevus UMLS:C0018508|NCIT:C3074|SCTID:201161009 owl:Class MONDO:0020979 biolink:NamedThing pilosebaceous hamartoma A hamartoma characterized by localized pilosebaceous apparatus malformation. tmpte7i6ely_mondo_relaxed.owl pilosebaceous hamartoma NCIT:C5565 owl:Class MONDO:0014354 biolink:NamedThing intellectual disability, autosomal recessive 43 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene. tmpte7i6ely_mondo_relaxed.owl WASHC4 autosomal recessive non-syndromic intellectual disability|MRT43|intellectual disability, autosomal recessive 43|mental retardation, autosomal recessive type 43|intellectual disability, autosomal recessive type 43|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4|mental retardation, autosomal recessive 43 UMLS:C4014386|OMIM:615817 owl:Class MONDO:0033005 biolink:NamedThing Galloway-Mowat syndrome 1 tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 5|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|nephrosis-neuronal dysmigration syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|GAMOS1|Galloway-Mowat syndrome 1|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|nephrosis-microcephaly syndrome UMLS:C0795949|OMIM:251300|UMLS:CN031715|DOID:0060364|Orphanet:2065 owl:Class MONDO:0010870 biolink:NamedThing tibial muscular dystrophy Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. tmpte7i6ely_mondo_relaxed.owl tibial muscular dystrophy, tardive|Finnish tibial muscular dystrophy|distal titinopathy|Tmd|TMD|tardive tibial muscular dystrophy|Udd type distal myopathy|distal myopathy, Udd type|Udd myopathy Orphanet:609|UMLS:C1838244|OMIM:600334|UMLS:C1450052|ICD10:G71.0|DOID:0111078|SCTID:698846009 owl:Class MONDO:0008358 biolink:NamedThing radial ray hypoplasia-choanal atresia syndrome Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. tmpte7i6ely_mondo_relaxed.owl radial ray hypoplasia choanal atresia|Goldblatt-Viljoen syndrome|radial RAY hypoplasia with choanal atresia|radial ray hypoplasia and choanal atresia OMIM:179270|SCTID:232373003|GARD:0004627|Orphanet:3026 owl:Class UBERON:0009564 biolink:NamedThing distal limb integumentary appendage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023121 biolink:NamedThing familial partial paralysis tmpte7i6ely_mondo_relaxed.owl partial paralysis, familial GARD:0008607|MEDGEN:447610|GTR:AN0100894|UMLS:CN035928 https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis owl:Class MONDO:0008066 biolink:NamedThing nasal hyperpigmentation, familial transverse tmpte7i6ely_mondo_relaxed.owl nasal hyperpigmentation, familial transverse UMLS:C1834369|OMIM:161530 owl:Class ENVO:01001852 biolink:NamedThing energy transfer process A process during which one entity loses energy to another entity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007170 biolink:NamedThing atresia of external auditory canal and conductive deafness tmpte7i6ely_mondo_relaxed.owl atresia of external auditory canal and conductive deafness OMIM:108760|UMLS:C3276095|Orphanet:141074 owl:Class MONDO:0004405 biolink:NamedThing Barrett adenocarcinoma An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002 tmpte7i6ely_mondo_relaxed.owl Barrett's adenocarcinoma|Barrett adenocarcinoma|adenocarcinoma arising in Barrett's mucosa NCIT:C7027|EFO:1001939|DOID:7941|UMLS:C1332460|SCTID:721617001 owl:Class FOODON:00001714 biolink:NamedThing food product component A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008786 biolink:NamedThing pyridoxine-responsive sideroblastic anemia tmpte7i6ely_mondo_relaxed.owl B6-responsive sideroblastic anemia|anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|sideroblastic anemia pyridoxine-responsive autosomal recessive|anemia, congenital sideroblastic, B6-responsive|anemia congenital sideroblastic B6-responsive DOID:0060066|SCTID:191260004|GARD:0009872|UMLS:C1859787|UMLS:C0272027|OMIM:206000|MESH:C565954 owl:Class MONDO:0043985 biolink:NamedThing central nervous system lupus Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. tmpte7i6ely_mondo_relaxed.owl lupus meningoencephalitis|neuropsychiatric systemic lupus erythematosus|central nervous system lupus vasculitis|systemic lupus Erythematosis, central nervous system|lupus Meningoencephalitides|Meningoencephalitides, lupus|central nervous system systemic lupus Erythematosis|meningoencephalitis, lupus|central nervous system lupus|CNS lupus EFO:1001453|NCIT:C116919|MESH:D020945 owl:Class HGNC:11273 biolink:NamedThing SPTAN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009488 biolink:NamedThing keratoconus posticus circumscriptus tmpte7i6ely_mondo_relaxed.owl keratoconus posticus circumscriptus|KPC|Kpc with associated malformations|keratoconus posticus CIRCUMSCRIPTUS GARD:0003091|OMIM:244600|UMLS:C1855645 https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus owl:Class HGNC:5133 biolink:NamedThing HOXD10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017949 biolink:NamedThing ABeta amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. tmpte7i6ely_mondo_relaxed.owl hereditary cerebral hemorrhage with amyloidosis, Arctic type|cerebral amyloid angiopathy, APP-related, Arctic variant|ABetaE22G amyloidosis|HCHWA, Arctic type ICD10:I68.0*|OMIM:605714|ICD10:E85.4+|Orphanet:324723 owl:Class MONDO:0010586 biolink:NamedThing X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type V|EDS5|EDS 5|Ehlers-Danlos syndrome, X-linked|EDS V|Ehlers-Danlos syndrome type 5|Ehlers-Danlos syndrome, type 5 UMLS:C0268341|ICD10:Q79.6|MESH:C536197|Orphanet:75497|SCTID:67202007|NCIT:C141423|OMIM:305200 owl:Class HGNC:7652 biolink:NamedThing NBN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019872 biolink:NamedThing distal trisomy 3p Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. tmpte7i6ely_mondo_relaxed.owl distal duplication 3p|telomeric duplication 3p|trisomy 3pter|distal trisomy type 3p ICD10:Q92.3|Orphanet:96071|SCTID:764519007 owl:Class MONDO:0013107 biolink:NamedThing atopic dermatitis 7 An atopic dermatitis associated with variation in the region 11q13.5. tmpte7i6ely_mondo_relaxed.owl dermatitis, ATOPIC, 7|atopic dermatitis type 7|ATOD7 OMIM:613064|MESH:C567796|DOID:0110103|UMLS:C2751599 owl:Class MONDO:0015720 biolink:NamedThing moderately severe hemophilia A Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpte7i6ely_mondo_relaxed.owl moderately severe hemophilia type A|moderately severe factor VIII deficiency UMLS:CN200231|ICD10:D66|Orphanet:169805 owl:Class MONDO:0100225 biolink:NamedThing collagen 6-related myopathy A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other. tmpte7i6ely_mondo_relaxed.owl collagen VI-related myopathy|collagen VI-related muscle disorder|collagen 6-related myopathy|collagen VI-related muscular dystrophy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010563 biolink:NamedThing blue cone monochromacy Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia. tmpte7i6ely_mondo_relaxed.owl cone dystrophy 5, X-linked|achromatopsia incomplete X-linked|atypical X-linked achromatopsia|blue cone monochromatism|CBBM|color blindness, blue monocone monochromatic type|X-linked achromatopsia incomplete|color blindness blue mono cone monochromatic type|incomplete achromatopsia X-linked|X-linked incomplete achromatopsia|S cone monochromatism|S cone monochromacy|BCM|colorblindness, blue-Mono-cone-monochromatic type|blue cone monochromacy|X-chromosome-linked achromatopsia MESH:C536238|OMIM:303700|UMLS:CN036572|SCTID:24704003|ICD10:H53.5|DOID:0050679|GARD:0000917|Orphanet:16 https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism owl:Class CHEBI:22881 biolink:NamedThing biopterins tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9402 biolink:NamedThing PRKCG tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12363 biolink:NamedThing TSC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002125 biolink:NamedThing status epilepticus A life-threatening situation in which the brain is in a continuous state of seizure. tmpte7i6ely_mondo_relaxed.owl generalized convulsive status epilepticus|GCSE|SE|grand mal status UMLS:C0038220|DOID:1824|MESH:D013226|EFO:0008526|GARD:0010191|NCIT:C85079|SCTID:230456007|ICD10:G41 https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus owl:Class HP:0032943 biolink:NamedThing Abnormal urine pH A deviation of urine pH from the normal range of 4.5 to 7.8. tmpte7i6ely_mondo_relaxed.owl Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context. peter human_phenotype owl:Class CHEBI:33434 biolink:NamedThing elemental halogen tmpte7i6ely_mondo_relaxed.owl elemental halogens|elemental halogen owl:Class GO:0048103 biolink:NamedThing somatic stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. tmpte7i6ely_mondo_relaxed.owl somatic stem cell renewal owl:Class MONDO:0006480 biolink:NamedThing undifferentiated pleomorphic sarcoma, inflammatory variant An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. tmpte7i6ely_mondo_relaxed.owl inflammatory MFH|malignant xanthogranuloma|undifferentiated pleomorphic sarcoma, inflammatory variant|inflammatory malignant fibrous histiocytoma|Xanthosarcoma DOID:6192|UMLS:C1334180|NCIT:C6497|EFO:1000608 owl:Class MONDO:0022729 biolink:NamedThing chondrodysplasia punctata with steroid sulfatase deficiency tmpte7i6ely_mondo_relaxed.owl GARD:0006050 https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency owl:Class MONDO:0022896 biolink:NamedThing craniosynostosis contractures cleft tmpte7i6ely_mondo_relaxed.owl GARD:0001591 https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft owl:Class MONDO:0014872 biolink:NamedThing congenital stationary night blindness 1H Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene. tmpte7i6ely_mondo_relaxed.owl congenital stationary night blindness caused by mutation in GNB3|CSNB1H|GNB3 congenital stationary night blindness|congenital stationary night blindness type 1H|night blindness, congenital stationary, type 1H DOID:0110866|UMLS:C4310758|OMIM:617024 owl:Class MONDO:0006210 biolink:NamedThing fibrolamellar hepatocellular carcinoma A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers. tmpte7i6ely_mondo_relaxed.owl fibrolamellar variant of hepatocellular carcinoma|liver cell fibrolamellar carcinoma|hepatocellular carcinoma, fibrolamellar|fibrolamellar carcinoma|FLC|FHCC|fibrolamellar cancer|polygonal cell hepatocellular carcinoma with fibrous stroma|hepatocellular fibrolamellar carcinoma|hepatocellular carcinoma with increased stromal fibrosis|oncocytic hepatocellular tumor|polygonal cell type hepatocellular carcinoma with fibrous Stroma|eosinophilic hepatocellular carcinoma with lamellar fibrosis|fibrolamellar carcinoma of liver cells|hepatocellular carcinoma (fibrolamellar variant)|FL-HCC|fibrolamellar hepatocarcinoma|fibrolamellar carcinoma of the liver cells|fibrolamellar oncocytic hepatoma|eosinophilic glassy cell hepatoma|fibrolamellar hepatocellular carcinoma ONCOTREE:FLC|ICDO:8171/3|Orphanet:401920|NCIT:C4131|GARD:0009396|SCTID:253018005|EFO:1000256|MESH:C537258|ICD10:C22.0|DOID:5015|UMLS:C0334287 owl:Class MONDO:0017392 biolink:NamedThing pre-descemet corneal dystrophy Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. tmpte7i6ely_mondo_relaxed.owl PDCD Orphanet:293462|ICD9:371.56|SCTID:231934009|ICD10:H18.5 owl:Class MONDO:0003535 biolink:NamedThing fallopian tube papillary adenocarcinoma An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern. tmpte7i6ely_mondo_relaxed.owl fallopian tube papillary adenocarcinoma|papillary adenocarcinoma of the fallopian tube|papillary adenocarcinoma of fallopian tube DOID:5597|NCIT:C6267|UMLS:C1333595 owl:Class UBERON:0004698 biolink:NamedThing vena cava endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class NBO:0000170 biolink:NamedThing memory behavior "Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl memory behaviour owl:Class MONDO:0008208 biolink:NamedThing patella, familial recurrent dislocation of tmpte7i6ely_mondo_relaxed.owl patella, familial recurrent dislocation of UMLS:C1868575|MESH:C566816|OMIM:169000 owl:Class MONDO:0002017 biolink:NamedThing olivopontocerebellar atrophy A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. tmpte7i6ely_mondo_relaxed.owl OPCA|WADIA-swami syndrome|Dejerine-Thomas syndrome|Thomas' syndrome MESH:D009849|UMLS:C0028968|SCTID:67761004|GARD:0007250|ICD9:333.0|DOID:14784|NCIT:C84947|ICD10:G23.8 owl:Class MONDO:0022094 biolink:NamedThing Cartwright Nelson Fryns syndrome tmpte7i6ely_mondo_relaxed.owl Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails UMLS:C2931062|GARD:0001132|MESH:C535917 https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome owl:Class HGNC:9236 biolink:NamedThing PPARG tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0050973 biolink:NamedThing detection of mechanical stimulus involved in equilibrioception The series of events involved in equilibrioception in which a mechanical stimulus is received and converted into a molecular signal. During equilibrioception, mechanical stimuli may be in the form of input from pressure receptors or from the labyrinth system of the inner ears. tmpte7i6ely_mondo_relaxed.owl equilibrioception, sensory detection of mechanical stimulus|sensory detection of mechanical stimulus during equilibrioception|equilibrioception, detection of mechanical stimulus|sensory transduction of mechanical stimulus during equilibrioception|equilibrioception, sensory transduction of mechanical stimulus owl:Class HP:0032169 biolink:NamedThing Severe infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. tmpte7i6ely_mondo_relaxed.owl Unusual course of infection 2018-12-16 15:11:20+00:00 peter human_phenotype owl:Class MONDO:0020452 biolink:NamedThing inferior vena cava interruption tmpte7i6ely_mondo_relaxed.owl IVC interruption|Inferior caval vein interruption Orphanet:99123|SCTID:93031005|ICD10:Q26.8|ICD9:747.49 owl:Class CL:0001008 biolink:NamedThing Kit and Sca1-positive hematopoietic stem cell A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative. tmpte7i6ely_mondo_relaxed.owl Sca1-positive hematopoietic stem cell|LSK stem cell Cell markers are associated with mouse hematopoietic stem cell. Originally described in the dendritic cell ontology (DC_CL:0000043)(PMID:19243617). cell owl:Class MONDO:0012044 biolink:NamedThing corneal dystrophy, lattice type 3A Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. tmpte7i6ely_mondo_relaxed.owl lattice corneal dystrophy, type 3A|lattice corneal dystrophy type III A|CDL3A|corneal dystrophy, lattice type IIIA|lattice corneal dystrophy type 3A Orphanet:98964|GARD:0010320|UMLS:C1837974|MESH:C563923|OMIM:608471 https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a owl:Class MONDO:0006465 biolink:NamedThing thyroid gland oncocytic follicular carcinoma A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent. tmpte7i6ely_mondo_relaxed.owl oncocytic carcinoma of the thyroid|Hurthle cell thyroid gland carcinoma|Hurthle cell carcinoma of the thyroid gland|oncocytic carcinoma of thyroid|thyroid Hurthle cell carcinoma|thyroid oncocytic carcinoma|Hurthle cell carcinoma of the thyroid|thyroid gland Hurthle cell carcinoma|Hurthle cell carcinoma of thyroid gland|Hurthle cell carcinoma of thyroid EFO:1000592|NCIT:C4946 owl:Class MONDO:0001682 biolink:NamedThing diphtheritic peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. tmpte7i6ely_mondo_relaxed.owl ICD10:A36.89|DOID:13310|SCTID:13596001|ICD9:032.83|UMLS:C0152953 owl:Class UBERON:0009537 biolink:NamedThing vascular element of right lung tmpte7i6ely_mondo_relaxed.owl owl:Class IAO:8000020 biolink:NamedThing EL++ ontology module tmpte7i6ely_mondo_relaxed.owl EL++ ontology module owl:Class HGNC:11905 biolink:NamedThing TNFRSF10B tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:52651 biolink:NamedThing Chabertiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011051 biolink:NamedThing lethal short-limb skeletal dysplasia, Al Gazali type tmpte7i6ely_mondo_relaxed.owl lethal neonatal short limb dwarfism|lethal short-limb skeletal dysplasia, Al Gazali type|lethal short limb skeletal dysplasia Al Gazali type UMLS:C1832435|GARD:0004827|OMIM:601356|MESH:C537598 https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type owl:Class MONDO:0010623 biolink:NamedThing ichthyosis and male hypogonadism tmpte7i6ely_mondo_relaxed.owl Ruds|rud syndrome|ichthyosis and male hypogonadism|Ichthyosis-male hypogonadism syndrome SCTID:2355008|UMLS:C1839989|Orphanet:431|GARD:0009612|ICD9:759.89|OMIM:308200 owl:Class MONDO:0003134 biolink:NamedThing proliferative glomerulonephritis A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. tmpte7i6ely_mondo_relaxed.owl ICD9:583.0|DOID:4778|UMLS:C0235618|SCTID:441815006|NCIT:C35281 owl:Class MONDO:0007330 biolink:NamedThing congenital pseudoarthrosis of clavicle Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle. tmpte7i6ely_mondo_relaxed.owl congenital pseudoarthrosis of the clavicle|clavicle, pseudarthrosis of, congenital|congenital pseudarthrosis of the clavicle OMIM:118980|ICD10:Q74.0|Orphanet:66630|MESH:C562548|SCTID:70794004 owl:Class MONDO:0015307 biolink:NamedThing Madras motor neuron disease Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl MMND ICD10:G12.2|UMLS:C0393551|GARD:0010742|Orphanet:137867 owl:Class MONDO:0001591 biolink:NamedThing senile entropion tmpte7i6ely_mondo_relaxed.owl involutional entropion SCTID:55408009|DOID:12836|ICD9:374.01|UMLS:C0155188 owl:Class GO:0055072 biolink:NamedThing iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. tmpte7i6ely_mondo_relaxed.owl iron homeostasis owl:Class HP:0000847 biolink:NamedThing Abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system. tmpte7i6ely_mondo_relaxed.owl Abnormality of the renin-aldosterone axis UMLS:C4021793 The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. HP:0003350 human_phenotype owl:Class HGNC:7495 biolink:NamedThing MT-TQ tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:742845 biolink:NamedThing Malasseziaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:162474 biolink:NamedThing Malasseziales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032650 biolink:NamedThing neurodegeneration, childhood-onset, with cerebellar atrophy tmpte7i6ely_mondo_relaxed.owl CONDCA|NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY OMIM:618276 owl:Class MONDO:0007952 biolink:NamedThing maxillofacial dysostosis tmpte7i6ely_mondo_relaxed.owl maxillofacial dysostosis GARD:0006991|MESH:C563599|UMLS:C1835088|OMIM:155000 https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis owl:Class HGNC:2037 biolink:NamedThing CLDN16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012572 biolink:NamedThing Sakoda complex tmpte7i6ely_mondo_relaxed.owl sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|Sakoda complex|Sakoda spectrum|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate UMLS:C1970485|MESH:C567055|GARD:0009695|OMIM:610871 https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex owl:Class MONDO:0032565 biolink:NamedThing ophthalmoplegia, external, with rib and vertebral anomalies tmpte7i6ely_mondo_relaxed.owl OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES|EORVA OMIM:618155 owl:Class HGNC:12412 biolink:NamedThing TUBB2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009498 biolink:NamedThing lethal Kniest-like dysplasia Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities. tmpte7i6ely_mondo_relaxed.owl Kniest like dysplasia lethal|Kniest-like dysplasia, lethal|arthrosis, flat face, hypotonia, short neck and macrocephaly GARD:0003124|OMIM:245190|MESH:C537208|Orphanet:2347|ICD10:Q77.8|UMLS:C1855605 https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal owl:Class CHEBI:51356 biolink:NamedThing penicillinate anion Any anion formed by loss of a proton from the carboxy group of a penicillin. tmpte7i6ely_mondo_relaxed.owl penicillin|penicillin anion|penicillin anions owl:Class HGNC:21082 biolink:NamedThing SEC63 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018344 biolink:NamedThing periodic paralysis with transient compartment-like syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN226077|Orphanet:397755|ICD10:G72.3 owl:Class MONDO:0010721 biolink:NamedThing reticuloendotheliosis, X-linked tmpte7i6ely_mondo_relaxed.owl reticuloendotheliosis, X-linked|reticuloendotheliosis GARD:0007559|MESH:C538362|UMLS:C0035288|OMIM:312500 owl:Class MONDO:0007649 biolink:NamedThing gastric juice peptides tmpte7i6ely_mondo_relaxed.owl gastric juice peptides OMIM:137220 owl:Class MONDO:0017056 biolink:NamedThing DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion tmpte7i6ely_mondo_relaxed.owl monosomy 21q22.13-q22.2|21q22.13q22.2 microdeletion syndrome|21q22.13-q22.2 microdeletion syndrome|Del(21)(q22.13q22.2)|monosomy 21q22.13q22.2 Orphanet:268261|UMLS:CN202414|ICD10:Q93.5 owl:Class MONDO:0003681 biolink:NamedThing myxoid chondrosarcoma A chondrosarcoma characterized by the presence of myxoid changes. tmpte7i6ely_mondo_relaxed.owl myxoid chondrosarcoma|MYCHS NCIT:C4303|ICDO:9231/3|UMLS:C0334551|DOID:5861|ONCOTREE:MYCHS owl:Class GO:0009712 biolink:NamedThing catechol-containing compound metabolic process The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. tmpte7i6ely_mondo_relaxed.owl catechol metabolism|catechol metabolic process owl:Class HGNC:23801 biolink:NamedThing SIPA1L3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015715 biolink:NamedThing severe hemophilia B Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpte7i6ely_mondo_relaxed.owl severe factor IX deficiency|severe hemophilia type B Orphanet:169793|UMLS:CN200227|ICD10:D67 owl:Class MONDO:0001186 biolink:NamedThing depersonalization disorder A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. tmpte7i6ely_mondo_relaxed.owl neurotic derealization GARD:0006260|DOID:11038|SCTID:70764005|ICD9:300.6|NCIT:C94331 https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder owl:Class MONDO:0001160 biolink:NamedThing dissociative disorder A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. tmpte7i6ely_mondo_relaxed.owl dissociative disease|dissociative reaction NCIT:C92197|ICD9:300.9|MESH:D004213|ICD9:300.15|ICD10:F44.9|DOID:10935|ICD10:F48.9 owl:Class MONDO:0006411 biolink:NamedThing sinonasal undifferentiated carcinoma A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl SNUC|highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses|sinonasal undifferentiated carcinoma|Sinonasal anaplastic carcinoma|undifferentiated Sinonasal cancer SCTID:697993003|MESH:C537344|ONCOTREE:SNUC|GARD:0009249|EFO:1000527|NCIT:C54294|UMLS:C1710096 https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma owl:Class CL:1000487 biolink:NamedThing smooth muscle cell of prostate A smooth muscle cell that is part of the prostate gland. tmpte7i6ely_mondo_relaxed.owl smooth muscle fiber of prostate FMA:84583 cell owl:Class MONDO:0030472 biolink:NamedThing developmental and epileptic encephalopathy 98 tmpte7i6ely_mondo_relaxed.owl DEE98 OMIM:619605 owl:Class MONDO:0016219 biolink:NamedThing dysmorphism-pectus carinatum-joint laxity syndrome Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. tmpte7i6ely_mondo_relaxed.owl Guízar Vázquez-Sánchez-Manzano syndrome|Guizar Vasquez Sanchez Manzano syndrome|dysmorphism-pectus carinatum-joint laxity syndrome UMLS:CN237430|Orphanet:2104|GARD:0000352|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome owl:Class MONDO:0016621 biolink:NamedThing juvenile Huntington disease Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. tmpte7i6ely_mondo_relaxed.owl juvenile onset HD|Huntington disease, juvenile onset|JHD|juvenile Huntington chorea ICD10:G10|SCTID:230299004|OMIM:143100|GARD:0010510|NCIT:C147072|UMLS:C0751208|Orphanet:248111 https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease owl:Class MONDO:0018763 biolink:NamedThing Tubulinopathy-associated dysgyria tmpte7i6ely_mondo_relaxed.owl brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Orphanet:467166|UMLS:CN242152 owl:Class MONDO:0008227 biolink:NamedThing peripheral dysostosis tmpte7i6ely_mondo_relaxed.owl dysostosis peripheral|peripheral dysostosis GARD:0002015|OMIM:170700|Orphanet:1795|UMLS:C0220659|UMLS:CN074256|ICD10:Q74.8 https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral owl:Class MONDO:0006766 biolink:NamedThing gait apraxia Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia. tmpte7i6ely_mondo_relaxed.owl Gait apraxia (finding) MedDRA:10070635|DOID:4260|MESH:D020235|EFO:1000944|UMLS:C1510417 owl:Class MONDO:0000665 biolink:NamedThing apraxia Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition. tmpte7i6ely_mondo_relaxed.owl Apraxias|dyspraxia MESH:D001072|GARD:0005838|ICD10:R48.2|DOID:0060135 https://rarediseases.info.nih.gov/diseases/5838/apraxia owl:Class MONDO:0008472 biolink:NamedThing spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. tmpte7i6ely_mondo_relaxed.owl spondyloepiphyseal dysplasia, myopia, and sensorineural deafness|spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome Orphanet:163668|UMLS:C1866719|ICD10:Q77.7|MESH:C566659|OMIM:184000 owl:Class MONDO:0001164 biolink:NamedThing antisocial personality disorder A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV) tmpte7i6ely_mondo_relaxed.owl asocial personality|psychopath.personality|Sociopathy|psychopathy|psychopathic personality|dissocial personality disorder|sociopathic personality|psychopathic personality disorder DOID:10939|ICD10:F60.2|MESH:D000987|ICD9:301.7|SCTID:26665006|NCIT:C88413 owl:Class MONDO:0009042 biolink:NamedThing craniotelencephalic dysplasia Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl craniotelencephalic dysplasia|Complex of anomalies involving the cranium and brain UMLS:C1857471|SCTID:715422002|MESH:C535597|OMIM:218670|Orphanet:1528|ICD10:Q04.3|GARD:0001605 https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia owl:Class FOODON:03400129 biolink:NamedThing refined or partially-refined food product (us cfr) Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995] tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0129 http://langual.org owl:Class MONDO:0013639 biolink:NamedThing narcolepsy 6, susceptibility to tmpte7i6ely_mondo_relaxed.owl NRCLP6|narcolepsy 6, susceptibility to OMIM:614223|Orphanet:2073 owl:Class MONDO:0001809 biolink:NamedThing adhesions of uterus tmpte7i6ely_mondo_relaxed.owl band of uterus|intrauterine synechiae UMLS:CN199257|ICD9:621.5|DOID:13812|SCTID:361115000 owl:Class MONDO:0007141 biolink:NamedThing antiviral state repressor, regulator of tmpte7i6ely_mondo_relaxed.owl AVRR|antiviral STATE repressor, regulator OF|antiviral state repressor, regulator of 2022-04-01 OMIM:107440 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HGNC:33862 biolink:NamedThing GRXCR2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10592 biolink:NamedThing SCN4B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007910 biolink:NamedThing lipoprotein types--Lt system tmpte7i6ely_mondo_relaxed.owl lipoprotein types--Lt system OMIM:152300|UMLS:C1835359 owl:Class GO:0016868 biolink:NamedThing intramolecular transferase activity, phosphotransferases Catalysis of the transfer of a phosphate group from one position to another within a single molecule. tmpte7i6ely_mondo_relaxed.owl phosphomutase activity|phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers owl:Class HGNC:4263 biolink:NamedThing GHR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007857 biolink:NamedThing keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma-clinodactyly syndrome|keratosis palmaris ET plantaris with clinodactyly MESH:C563646|Orphanet:86919|ICD10:Q82.8|UMLS:C1835663|OMIM:148520 owl:Class MONDO:0010534 biolink:NamedThing X-linked spinocerebellar ataxia type 4 Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. tmpte7i6ely_mondo_relaxed.owl X-linked ataxia-dementia syndrome|ataxia-dementia syndrome, X-linked|Scax4|ataxia-dementia syndrome X-linked|spinocerebellar ataxia, X-linked 4|spinocerebellar ataxia, X-linked type 4|spinocerebellar ataxia X-linked type 4|SCAX4 UMLS:C1844933|GARD:0009980|Orphanet:85292|SCTID:719818007|OMIM:301840|ICD10:G11.1|MESH:C537316 https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4 owl:Class MONDO:0009913 biolink:NamedThing prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness tmpte7i6ely_mondo_relaxed.owl prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness|prune belly syndrome with pulmonic stenosis, mental retardation, and deafness SCTID:236529001|OMIM:264140|UMLS:C0403551|MESH:C562894 owl:Class MONDO:0019421 biolink:NamedThing X-linked intellectual disability, Seemanova type X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.8|Orphanet:85323|SCTID:718897009|UMLS:CN227630 owl:Class MONDO:0007802 biolink:NamedThing hypospadias 3, autosomal tmpte7i6ely_mondo_relaxed.owl HYSP3|hypospadias 3, autosomal MESH:C567191|OMIM:146450|UMLS:C2675154|Orphanet:440 owl:Class MONDO:0100065 biolink:NamedThing TH-deficient infantile parkinsonism and motor delay A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). tmpte7i6ely_mondo_relaxed.owl tyrosine hydroxylase infantile parkinsonism and motor delay 2018-11-10 00:07:39+00:00 owl:Class MONDO:0024171 biolink:NamedThing radio-digito-facial dysplasia tmpte7i6ely_mondo_relaxed.owl Van Goethem syndrome GARD:0004629 owl:Class MONDO:0100370 biolink:NamedThing acute hepatitis B virus infection A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk. tmpte7i6ely_mondo_relaxed.owl acute hepatitis B NCIT:C157781 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001167 biolink:NamedThing spastic diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. tmpte7i6ely_mondo_relaxed.owl cerebral spastic infantile paralysis|cerebral palsy spastic diplegic|infantile spastic cerebral palsy|infantile diplegic cerebral palsy|diplegic infantile cerebral palsy|Little disease|Little's disease NCIT:C34781|MESH:C537945|ICD10:G80.1|UMLS:C0270804|GARD:0009637|ICD9:343.0|SCTID:281411007|MESH:D002547|DOID:10965 MONDO:0022698 https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy owl:Class MONDO:0020687 biolink:NamedThing supratentorial ependymal tumor An ependymal tumor arising from the supratentorial region of the brain. tmpte7i6ely_mondo_relaxed.owl supratentorial ependymal tumor NCIT:C131611 owl:Class PATO:0002078 biolink:NamedThing hollow A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020643 biolink:NamedThing autism susceptibility 1 tmpte7i6ely_mondo_relaxed.owl autism susceptibility 1|AUTS1 owl:Class MONDO:0016474 biolink:NamedThing drug-induced lupus erythematosus An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. tmpte7i6ely_mondo_relaxed.owl drug induced lupus erythematosus|DILE|drug-induced lupus|drug induced lupus|DIL ICD10:M32.0|UMLS:C0263591|MedDRA:10013706|NCIT:C114354|Orphanet:231111|DOID:0040093|SCTID:80258006 owl:Class MONDO:0006657 biolink:NamedThing apparent mineralocorticoid excess syndrome An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. tmpte7i6ely_mondo_relaxed.owl syndrome of apparent mineralocorticoid Excess ICD9:255.3|NCIT:C123231|MESH:D043204|SCTID:237770005|UMLS:C0342488|EFO:1000817|DOID:4367 owl:Class MONDO:0012380 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 53 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 53|DFNA53|autosomal dominant nonsyndromic deafness type 53|autosomal dominant deafness 53|deafness, autosomal dominant nonsyndromic sensorineural 53|deafness, autosomal dominant 53 GARD:0009934|ICD10:H90.3|UMLS:C1864957|MESH:C566495|OMIM:609965|DOID:0110579 owl:Class HGNC:7096 biolink:NamedThing MID2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4868 biolink:NamedThing HERC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009546 biolink:NamedThing macrosomia adiposa congenita tmpte7i6ely_mondo_relaxed.owl macrosomia adiposa congenita OMIM:248100|UMLS:C1855468|MESH:C565425 owl:Class MONDO:0018850 biolink:NamedThing proliferating trichilemmal cyst Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues. tmpte7i6ely_mondo_relaxed.owl proliferating pilar cystic tumor|proliferating pilar cyst|proliferating trichilemmal tumor|Pilar cyst|proliferating Pilar tumor|proliferating Tricholemmal tumor|Pilar tumor ICDO:8103/0|GARD:0004509|UMLS:C2959585|UMLS:C0345992|SCTID:254678009|ICDO:8103/1|ICD10:L72.1|ONCOTREE:PPCT|Orphanet:492|NCIT:C27125 https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst owl:Class MONDO:0021135 biolink:NamedThing rare or common tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0006710 biolink:NamedThing complex partial epilepsy A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) tmpte7i6ely_mondo_relaxed.owl Complex partial epileptic seizure|psychomotor epilepsy|epilepsy, psychomotor UMLS:C0085417|MESH:D017029|ICD9:345.40|SCTID:407675009|DOID:12382|EFO:1000877 owl:Class NCBITaxon:1570301 biolink:NamedThing Saccotheciaceae tmpte7i6ely_mondo_relaxed.owl Aureobasidiaceae|Saccotheciei GC_ID:1 ncbi_taxonomy owl:Class HGNC:23405 biolink:NamedThing LRMDA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032851 biolink:NamedThing intellectual developmental disorder with impaired language and dysmorphic facies tmpte7i6ely_mondo_relaxed.owl IDDILF|INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES OMIM:618653 owl:Class GO:0000805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28249 biolink:NamedThing PHYKPL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011333 biolink:NamedThing light fixation seizure syndrome tmpte7i6ely_mondo_relaxed.owl light fixation seizure syndrome|M syndrome|Lfss MESH:C566367|UMLS:C1863767|OMIM:603530 owl:Class MONDO:0009187 biolink:NamedThing celiac disease-epilepsy-cerebral calcification syndrome Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. tmpte7i6ely_mondo_relaxed.owl celiac disease, epilepsy, and cerebral calcification syndrome|bilateral occipital calcifications with epilepsy|CEC|epilepsy occipital calcifications|epilepsy with bilateral occipital calcifications|familial unilateral and bilateral occipital calcifications and epilepsy|celiac disease epilepsy occipital calcifications UMLS:C1856930|MESH:C535496|OMIM:226810|GARD:0002166|Orphanet:1459 owl:Class MONDO:0007735 biolink:NamedThing congenital Horner syndrome Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. tmpte7i6ely_mondo_relaxed.owl congenital Claude-Bernard-Horner syndrome|congenital Horner syndrome|congenital Horner syndrome (disease)|HORNER syndrome, congenital congenital Horner syndrome (disease) ICD10:G90.2|MESH:C564178|HP:0006837|UMLS:C1840475|OMIM:143000|Orphanet:91413 owl:Class MONDO:0009516 biolink:NamedThing absence deformity of leg-cataract syndrome Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. tmpte7i6ely_mondo_relaxed.owl leg, absence deformity of, with congenital cataract MESH:C565442|Orphanet:2310|UMLS:C1855523|OMIM:246000 owl:Class MONDO:0017980 biolink:NamedThing syngnathia multiple anomalies tmpte7i6ely_mondo_relaxed.owl syngnathia-multiple anomalies syndrome GARD:0005092|Orphanet:3262 https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies owl:Class NCBITaxon:6334 biolink:NamedThing Trichinella spiralis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007102 biolink:NamedThing amyotrophic dystonic paraplegia tmpte7i6ely_mondo_relaxed.owl amyotrophic dystonic paraplegia OMIM:105300|UMLS:C1862956|MESH:C566292 owl:Class CL:0000347 biolink:NamedThing scleral cell A cell of the sclera of the eye. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:11812 biolink:NamedThing TRIM24 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008543 biolink:NamedThing tetralogy of fallot and glaucoma tmpte7i6ely_mondo_relaxed.owl tetralogy of fallot and glaucoma|familial tetralogy of fallot and glaucoma GARD:0010107|OMIM:187501|MESH:C536501|UMLS:C1861234 https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma owl:Class MONDO:0004149 biolink:NamedThing gallbladder pleomorphic giant cell adenocarcinoma tmpte7i6ely_mondo_relaxed.owl pleomorphic giant cell adenocarcinoma of the gallbladder DOID:7222 owl:Class NCBITaxon:1723728 biolink:NamedThing unclassified Polyomaviridae tmpte7i6ely_mondo_relaxed.owl unassigned Polyomaviridae GC_ID:1 NCBITaxon:1891753 ncbi_taxonomy owl:Class MONDO:0015407 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 3 tmpte7i6ely_mondo_relaxed.owl CAMS3 UMLS:C3838691|ICD10:Q28.2|SCTID:703268008|UMLS:CN199502|Orphanet:141199 owl:Class UBERON:0006686 biolink:NamedThing spinal vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005722 biolink:NamedThing croup Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. tmpte7i6ely_mondo_relaxed.owl acute laryngotracheobronchitis|acute laryngotracheitis|acute obstructive laryngitis|croup syndrome UMLS:C0010380|DOID:9395|ICD9:464.4|EFO:0007227|NCIT:C26735|MESH:D003440|ICD10:J05.0|SCTID:71186008 owl:Class MONDO:0013195 biolink:NamedThing hypertrophic cardiomyopathy 13 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy type 13|cardiomyopathy, familial hypertrophic, type 13|hypertrophic cardiomyopathy caused by mutation in TNNC1|TNNC1 hypertrophic cardiomyopathy|CMH13|cardiomyopathy, familial hypertrophic, 13|cardiomyopathy familial hypertrophic 13 OMIM:613243|MESH:C567686|DOID:0110319|UMLS:C2750472 owl:Class FOODON:03460130 biolink:NamedThing physical/chemical modification process A food modification process where physical or chemical changes are effected in any food ingredient through a physical or non-enzymatic chemical process. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0130 owl:Class MONDO:0100432 biolink:NamedThing FNIP1-associated syndrome Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome. tmpte7i6ely_mondo_relaxed.owl absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome|FNIP1 deficiency|immunodeficiency with cardiomyopathy and pre-excitation syndrome http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4021 owl:Class MONDO:0005759 biolink:NamedThing fascioloidiasis Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. tmpte7i6ely_mondo_relaxed.owl MESH:D005213|DOID:1217|EFO:0007268|SCTID:69550000|UMLS:C0015655 owl:Class MONDO:0010628 biolink:NamedThing immunoglobulin M, level of tmpte7i6ely_mondo_relaxed.owl immunoglobulin M, level of OMIM:308250 owl:Class MONDO:0007905 biolink:NamedThing lip, hamartomatous tmpte7i6ely_mondo_relaxed.owl lip, hamartomatous|enlargement of Lower lip OMIM:151640|UMLS:C1835395|MESH:C563621 owl:Class CHEBI:30436 biolink:NamedThing tetrahydropterin tmpte7i6ely_mondo_relaxed.owl tetrahydropterins|tetrahydropteridines owl:Class MONDO:0008186 biolink:NamedThing pancytopenia and occlusive vascular disease tmpte7i6ely_mondo_relaxed.owl pancytopenia and occlusive vascular disease UMLS:C1868652|OMIM:167850|MESH:C566836 owl:Class MONDO:0005942 biolink:NamedThing Reye syndrome An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. tmpte7i6ely_mondo_relaxed.owl Reye's syndrome MESH:D012202|Orphanet:3096|DOID:14525|EFO:0007467|GARD:0007570|ICD9:331.81|NCIT:C34983|UMLS:C0035400|SCTID:74351001|ICD10:G93.7|MedDRA:10039012 https://github.com/monarch-initiative/mondo/issues/3608 owl:Class MONDO:0006377 biolink:NamedThing pleural biphasic mesothelioma Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor. tmpte7i6ely_mondo_relaxed.owl pleural biphasic mesothelioma UMLS:C1709570|NCIT:C45665|EFO:1000483 owl:Class MONDO:0017185 biolink:NamedThing autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). tmpte7i6ely_mondo_relaxed.owl dominant KATP hyperinsulinism due to Kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency UMLS:C4274081|Orphanet:276580|UMLS:CN202626|OMIM:601820|ICD10:E16.1|SCTID:717045004 owl:Class MONDO:0008131 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant tmpte7i6ely_mondo_relaxed.owl optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant Orphanet:1215|OMIM:165199|MESH:C563497|UMLS:C1833831 owl:Class MONDO:0054802 biolink:NamedThing erythrocytosis, familial, 7 tmpte7i6ely_mondo_relaxed.owl erythrocytosis, FAMILIAL, 7|ECYT7|erythrocytosis, Alpha-globin type|polycythemia, Alpha-globin type DOID:0111631|OMIM:617981|UMLS:CN244942 owl:Class MONDO:0009680 biolink:NamedThing congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, with infantile cataract and hypogonadism|Bassoe syndrome|benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|familial congenital muscular dystrophy with gonadal dysgenesis|muscular dystrophy, congenital, infantile with cataract and hypogonadism OMIM:254000|UMLS:C2931578|GARD:0003842|UMLS:C1850864|Orphanet:1875|GARD:0000835 owl:Class MONDO:0002956 biolink:NamedThing skin cystic basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl skin cystic basal cell carcinoma|cystic basal cell carcinoma SCTID:403912001|DOID:4302|UMLS:C1275193|NCIT:C27537 owl:Class MONDO:0007364 biolink:NamedThing arthrogryposis, distal, type 2E tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, type 2E|contractures of fingers and jaw UMLS:C1852597|OMIM:121070|MESH:C535384 owl:Class NCBITaxon:7157 biolink:NamedThing Culicidae tmpte7i6ely_mondo_relaxed.owl mosquitos GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033363 biolink:NamedThing developmental and epileptic encephalopathy, 54 tmpte7i6ely_mondo_relaxed.owl EIEE54|DEE54|epileptic encephalopathy, early infantile, 54 Orphanet:1934|DOID:0080418|UMLS:C4479319|OMIM:617391 owl:Class FOODON:03400148 biolink:NamedThing milk or milk product (us cfr) Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0148 http://langual.org owl:Class MONDO:0017825 biolink:NamedThing silent pituitary adenoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN203795|Orphanet:314786|ICD10:D35.2 owl:Class MONDO:0002287 biolink:NamedThing glandular cystitis A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. tmpte7i6ely_mondo_relaxed.owl cystitis glandularis UMLS:C0268837|DOID:2392|ICD9:595.89|NCIT:C39860|SCTID:72815004 owl:Class HGNC:18365 biolink:NamedThing IFNL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022400 biolink:NamedThing retinal ciliopathy due to mutation in the rpgrip gene tmpte7i6ely_mondo_relaxed.owl Orphanet:156174 owl:Class MONDO:0000662 biolink:NamedThing amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. tmpte7i6ely_mondo_relaxed.owl receptive amusia UMLS:C0234497|DOID:0060132 owl:Class MONDO:0010597 biolink:NamedThing glutamyl ribose-5-phosphate storage disease tmpte7i6ely_mondo_relaxed.owl ADP-ribose Protein hydrolase deficiency|glutamyl ribose-5-phosphate storage disease UMLS:C1844440|MESH:C564422|OMIM:305920 owl:Class MONDO:0001737 biolink:NamedThing tetanus neonatorum A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. tmpte7i6ely_mondo_relaxed.owl neonatal tetanus ICD9:771.3|NCIT:C116814|DOID:13521|SCTID:43424001|ICD10:A33|UMLS:C0343312 owl:Class MONDO:0007016 biolink:NamedThing vitamin A deficiency Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. tmpte7i6ely_mondo_relaxed.owl deficiency, vitamin A|vitamin A deficiencies|vitamin A deficiency (disease)|deficiencies, vitamin A|vitamin A deficiency vitamin A deficiency (disease) MESH:D014802|HP:0004905|NCIT:C85220|SCTID:72000004|ICD9:264|EFO:1001237|MedDRA:10047586|UMLS:C0042842|ICD9:264.9|ICD9:264.8 owl:Class MONDO:0011627 biolink:NamedThing autism, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 5|AUTS5|autism-related speech delay|phrase speech delay, autism-related UMLS:C1853755|OMIM:606053 owl:Class MONDO:0030492 biolink:NamedThing spermatogenic failure 59 tmpte7i6ely_mondo_relaxed.owl SPGF59 OMIM:619645 owl:Class MONDO:0018263 biolink:NamedThing fetal carbamazepine syndrome A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. tmpte7i6ely_mondo_relaxed.owl ICD10:Q86.8|UMLS:CN204839|SCTID:254249002|Orphanet:370076|UMLS:C0432370|ICD9:760.8 owl:Class MONDO:0014143 biolink:NamedThing Noonan syndrome 8 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. tmpte7i6ely_mondo_relaxed.owl RIT1 Noonan syndrome|Noonan syndrome 8|Noonan syndrome type 8|NS8|Noonan syndrome caused by mutation in RIT1 DOID:0060586|Orphanet:648|OMIM:615355|UMLS:C3809233 owl:Class HGNC:6026 biolink:NamedThing CXCR1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:21316 biolink:NamedThing ANKRD11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000955 biolink:NamedThing ileum cancer A malignant neoplasm involving the ileum tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of ileum|malignant ileum neoplasm|cancer of ileum|ileum cancer ICD10:C17.2|ICD9:152.2|DOID:10153 owl:Class HGNC:7873 biolink:NamedThing NOS2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:50681 biolink:NamedThing methotrexate(2-) tmpte7i6ely_mondo_relaxed.owl methotrexate|(2S)-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)pentanedioate owl:Class GO:0022803 biolink:NamedThing passive transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. tmpte7i6ely_mondo_relaxed.owl uniporter activity z|facilitated diffusion|porters owl:Class MONDO:0008378 biolink:NamedThing retinitis pigmentosa 9 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in RP9|RP 9|RP9 retinitis pigmentosa|RP9|retinitis pigmentosa 9|retinitis pigmentosa type 9 MESH:C566716|UMLS:C1867300|OMIM:180104|GARD:0010382|DOID:0110387|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9 owl:Class MONDO:0009797 biolink:NamedThing orotic aciduria An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. tmpte7i6ely_mondo_relaxed.owl Ump synthase deficiency|uridine monophosphate synthase deficiency|UMP synthtase deficiency|orotic aciduria without megaloblastic Anemia|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotic aciduria type 1|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|orotic aciduria II (formerly)|OPRT and ODC deficiency|hereditary orotic aciduria|orotic aciduria 1|oroticaciduria 1|orotidylic decarboxylase deficiency|Umps deficiency|orotic aciduria|oroticaciduria|UMPS|uridine monophosphate synthetase deficiency OMIM:258900|NCIT:C98944|DOID:0050833|MedDRA:10052621|Orphanet:30|GARD:0005429|SCTID:47641009|ICD10:E79.8 owl:Class MONDO:0032873 biolink:NamedThing retinitis pigmentosa 87 with choroidal involvement tmpte7i6ely_mondo_relaxed.owl RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT|RP87 OMIM:618697 owl:Class UBERON:0008001 biolink:NamedThing irregular bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017075 biolink:NamedThing upper thoracic spina bifida cystica tmpte7i6ely_mondo_relaxed.owl Orphanet:268770 owl:Class MONDO:0008739 biolink:NamedThing agenesis of cerebral white matter tmpte7i6ely_mondo_relaxed.owl agenesis of cerebral white matter OMIM:202600 owl:Class NCBITaxon:137 biolink:NamedThing Spirochaetaceae tmpte7i6ely_mondo_relaxed.owl Treponemataceae GC_ID:11|PMID:23908650 ncbi_taxonomy owl:Class MONDO:0032756 biolink:NamedThing long qt syndrome 8 tmpte7i6ely_mondo_relaxed.owl LQT8|LONG QT SYNDROME 8 OMIM:618447 owl:Class MONDO:0004105 biolink:NamedThing childhood epithelioid sarcoma An epithelioid sarcoma occurring in childhood. tmpte7i6ely_mondo_relaxed.owl childhood epithelioid sarcoma|epithelioid sarcoma of childhood|pediatric epithelioid sarcoma|epithelioid sarcoma NCIT:C8095|DOID:7095|UMLS:C0279989 owl:Class MONDO:0012544 biolink:NamedThing brachydactyly-syndactyly syndrome Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. tmpte7i6ely_mondo_relaxed.owl BDSD|brachydactyly-syndactyly syndrome|brachydactyly-syndactyly, Zhao type|Bdsd|brachydactyly-syndactyly-oligodactyly syndrome DOID:0050689|MESH:C565193|ICD10:Q73.8|UMLS:C1853137|OMIM:610713|Orphanet:93409 owl:Class HP:0001732 biolink:NamedThing Abnormality of the pancreas An abnormality of the pancreas. tmpte7i6ely_mondo_relaxed.owl Abnormality of the pancreas|Pancreatic disease UMLS:C0030286|UMLS:C4025751|MSH:D010182|SNOMEDCT_US:3855007 human_phenotype owl:Class MONDO:0022734 biolink:NamedThing chorioretinopathy dominant form microcephaly tmpte7i6ely_mondo_relaxed.owl GARD:0001308 https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly owl:Class HGNC:6493 biolink:NamedThing LAMC2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0048732 biolink:NamedThing gland development The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18758 biolink:NamedThing BBS7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007865 biolink:NamedThing knuckle pads tmpte7i6ely_mondo_relaxed.owl knuckle pads UMLS:C0264000|SCTID:16687001|OMIM:149100|ICD9:728.79|ICD10:M72.1 owl:Class HGNC:18153 biolink:NamedThing TNFRSF13B tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1678 biolink:NamedThing CD4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033260 biolink:NamedThing hearing loss, autosomal dominant 73 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 73|DFNA73|autosomal dominant nonsyndromic deafness 73 UMLS:CN461628|OMIM:617663|DOID:0080269 owl:Class MONDO:0012665 biolink:NamedThing cataract 33 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene. tmpte7i6ely_mondo_relaxed.owl cataract 33, multiple types|BFSP1 early-onset non-syndromic cataract|cortical cataract 33|cataract type 33|cataract 33, cortical|cataract 33|CTRCT33|early-onset non-syndromic cataract caused by mutation in BFSP1 ICD10:Q12.0|MESH:C566955|OMIM:611391|DOID:0110264|Orphanet:217052|UMLS:C3808107|Orphanet:217046 owl:Class UBERON:0015165 biolink:NamedThing multi-unit eye tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010577 biolink:NamedThing hearing loss, X-linked 1 tmpte7i6ely_mondo_relaxed.owl deafness, X-linked type 1|deafness, X-linked 1|DFNX1|deafness, X-linked 2, sensorineural congenital OMIM:304500|MESH:C564433|DOID:0111739|UMLS:C1844677|Orphanet:90625 owl:Class MONDO:0017249 biolink:NamedThing congenital pulmonary airway malformation type 1 tmpte7i6ely_mondo_relaxed.owl CCAM type 1|congenital cystic adenomatoid malformation of the lung type 1|congenital cystic adenomatous malformation of the lung type 1|CPAM type 1|congenital cystic disease of the lung type 1 Orphanet:280832|ICD10:Q33.0 owl:Class MONDO:0004572 biolink:NamedThing cyclothymic disorder An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. tmpte7i6ely_mondo_relaxed.owl cyclothymic personality|affective personality disorder|cyclothymia|cycloid personality ICD10:F34.0|SCTID:76105009|MESH:D003527|DOID:845|ICD9:301.10|ICD9:301.13|ICD9:301.1 owl:Class MONDO:0018161 biolink:NamedThing non-hereditary retinoblastoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN204600|Orphanet:357034|ICD10:C69.2 owl:Class NCBITaxon:3745 biolink:NamedThing Rosaceae tmpte7i6ely_mondo_relaxed.owl rose family|Malaceae GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:3744 biolink:NamedThing Rosales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:3601|NCBITaxon:3473|NCBITaxon:4266 ncbi_taxonomy owl:Class MONDO:0032706 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 27 tmpte7i6ely_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27|SCAR27 DOID:0111616|OMIM:618369 owl:Class HGNC:4341 biolink:NamedThing GLUL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017465 biolink:NamedThing congenital pseudoarthrosis of the radius tmpte7i6ely_mondo_relaxed.owl congenital pseudarthrosis of the radius Orphanet:295024|ICD10:Q74.0 owl:Class MONDO:0006786 biolink:NamedThing hepatic vein thrombosis A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. tmpte7i6ely_mondo_relaxed.owl hepatic vein thrombosis|Budd-Chiari syndrome MedDRA:10006537|DOID:11512|SCTID:38739001|ICD9:453.0|EFO:1000966|ICD10:I82.0|MedDRA:10019713 owl:Class MONDO:0033980 biolink:NamedThing RELA fusion-positive ependymoma tmpte7i6ely_mondo_relaxed.owl Orphanet:530792 owl:Class UBERON:0016402 biolink:NamedThing mesocolic lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004745 biolink:NamedThing priapism Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. tmpte7i6ely_mondo_relaxed.owl Mentulagra ICD9:607.3|DOID:9286|UMLS:C0033117|Orphanet:140949|ICD10:N48.3|ICD10:N48.30|NCIT:C85022|MESH:D011317|SCTID:6273006 owl:Class MONDO:0044870 biolink:NamedThing acquired torsion dystonia An instance of torsion dystonia that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired torsion dystonia UMLS:C1719382|SCTID:433493000 owl:Class MONDO:0044843 biolink:NamedThing torsion dystonia tmpte7i6ely_mondo_relaxed.owl torsion dystonia SCTID:431034009 owl:Class MONDO:0020361 biolink:NamedThing partial cryptophthalmia tmpte7i6ely_mondo_relaxed.owl ICD10:Q11.2|DOID:0111718|Orphanet:98950 owl:Class UBERON:0004254 biolink:NamedThing forelimb zeugopod muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011517 biolink:NamedThing pseudohyperaldosteronism type 2 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. tmpte7i6ely_mondo_relaxed.owl hypertension due to gain-of-function mutations in the mineralocorticoid receptor|hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy|early-onset hypertension with exacerbation in pregnancy|hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy ICD10:I15.1|SCTID:766937004|OMIM:605115|MESH:C565359|Orphanet:88660|UMLS:C1854631 owl:Class MONDO:0017297 biolink:NamedThing chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids tmpte7i6ely_mondo_relaxed.owl CLIPPERS GARD:0010779|Orphanet:284448|UMLS:C3854437 owl:Class MONDO:0004403 biolink:NamedThing childhood precursor T-lymphoblastic lymphoma/leukemia A T lymphoblastic leukemia/lymphoma that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl childhood precursor T-lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia of childhood|childhood T lymphoblastic leukemia/lymphoma|pediatric precursor T-lymphoblastic lymphoma/leukemia UMLS:C1332997|NCIT:C5640|DOID:7933 owl:Class CL:0010004 biolink:NamedThing mononuclear cell of bone marrow A mononuclear cell that is part_of a bone marrow. tmpte7i6ely_mondo_relaxed.owl bone marrow mononuclear cell GOC:cjm owl:Class MONDO:0010154 biolink:NamedThing trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. tmpte7i6ely_mondo_relaxed.owl trigonocephaly - bifid nose - acral anomalies|trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet OMIM:275595|GARD:0005277|Orphanet:3368|GARD:0005126|ICD10:Q87.0|MESH:C564759|UMLS:C1848743 owl:Class HGNC:17748 biolink:NamedThing DACT1 tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001790 biolink:NamedThing terrestrial ecosystem tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017230 biolink:NamedThing autosomal semi-dominant severe lipodystrophic laminopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:280365|UMLS:CN202719|ICD10:E88.1 owl:Class MONDO:0016711 biolink:NamedThing desmoplastic/nodular medulloblastoma A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. tmpte7i6ely_mondo_relaxed.owl desmoplastic medulloblastoma|desmoplastic/nodular medulloblastoma|Desmoplastic medulloblastoma|desmoplastic nodular medulloblastoma NCIT:C4956|UMLS:C0751291|ONCOTREE:DMBL|EFO:0005699|ICD10:C71.6|OMIM:155255|ICDO:9471/3|Orphanet:251863 owl:Class MONDO:0016668 biolink:NamedThing sickle cell-beta-thalassemia disease syndrome Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl HbS-beta-thalassemia syndrome|Hb S-Beta thalassemia|sickle beta thalassemia|Hemoglobin sickle-beta thalassemia|sickle cell-Beta-thalassemia|HbS - beta-thalassemia|sickle cell-Beta thalassemia|sickle cell - beta-thalassemia disease|S-Beta thalassemia|sickle cell-beta-thalassemia disease syndrome|Hb S beta-thalassemia ICD10:D57.2|Orphanet:251359|GARD:0010333|MedDRA:10055579|MedDRA:10040655|NCIT:C95539|SCTID:127041004 https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia owl:Class MONDO:0010800 biolink:NamedThing Wolfram syndrome, mitochondrial form tmpte7i6ely_mondo_relaxed.owl Wolfram syndrome, mitochondrial form|diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form|Didmoad syndrome, mitochondrial form Orphanet:3463|MESH:C564012|OMIM:598500|DOID:0080583|UMLS:C1838782 owl:Class NCIT:C19160 biolink:NamedThing Occupation or Discipline A grouping of occupations and fields of study. tmpte7i6ely_mondo_relaxed.owl Occupation or Discipline owl:Class NCIT:C20181 biolink:NamedThing Conceptual Entity An organizational header for concepts representing mostly abstract entities. tmpte7i6ely_mondo_relaxed.owl Conceptual Entity owl:Class MONDO:0003851 biolink:NamedThing ovarian fetiform teratoma A rare type of teratoma that arises from the ovary and resembles a malformed fetus. tmpte7i6ely_mondo_relaxed.owl homunculus|ovarian fetiform teratoma DOID:6314|UMLS:C1518715|NCIT:C39996 owl:Class GO:0098975 biolink:NamedThing postsynapse of neuromuscular junction The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0008240 biolink:NamedThing tripeptidyl-peptidase activity Catalysis of the release of an N-terminal tripeptide from a polypeptide. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003380 biolink:NamedThing cardiac muscle of left atrium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1904115 biolink:NamedThing axon cytoplasm Any cytoplasm that is part of a axon. tmpte7i6ely_mondo_relaxed.owl axoplasm owl:Class MONDO:0007657 biolink:NamedThing giant neutrophil leukocytes tmpte7i6ely_mondo_relaxed.owl giant neutrophil leukocytes UMLS:C1842039|OMIM:137500 owl:Class MONDO:0015584 biolink:NamedThing febrile infection-related epilepsy syndrome Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. tmpte7i6ely_mondo_relaxed.owl devastating epileptic encephalopathy in school-aged children|fever-induced refractory epileptic encephalopathy in school-aged children|acute non-herpetic encephalitis with severe refractory status epilepticus|idiopathic catastrophic epileptic encephalopathy|DESC syndrome|acute encephalitis with refractory repetitive partial seizures|severe refractory status epilepticus owing to presumed encephalitis|status epilepticus owing to presumed encephalitis|FIRES|AERRPS UMLS:CN199955|ICD10:G40.5|GARD:0011005|Orphanet:163703|SCTID:725413002 https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome owl:Class MONDO:0010517 biolink:NamedThing ciliary dyskinesia, primary, 36, X-linked Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 36, X-linked; CILD36|ciliary dyskinesia, primary, 36, with or without situs inversus|ciliary dyskinesia, primary, 36, X-linked|CILD36|PIH1D3 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in PIH1D3 OMIM:300991|UMLS:CN240511|UMLS:C4478372 owl:Class MONDO:0044315 biolink:NamedThing craniosynostosis 7 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). tmpte7i6ely_mondo_relaxed.owl Crs7, digenic|craniosynostosis 7|CRS7|craniosynostosis 7, digenic UMLS:C4479496|OMIM:617439 owl:Class NCBITaxon:5855 biolink:NamedThing Plasmodium vivax tmpte7i6ely_mondo_relaxed.owl malaria parasite P. vivax|Haemamoeba vivax|Haemamoeba vivax Grassi and Feletti, 1890 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:418103 biolink:NamedThing Plasmodium (Plasmodium) tmpte7i6ely_mondo_relaxed.owl Plasmodium GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008483 biolink:NamedThing stuttering, familial persistent, 1 tmpte7i6ely_mondo_relaxed.owl stammering|stuttering, familial persistent, 1|STUT1 OMIM:184450 owl:Class NCBITaxon:85708 biolink:NamedThing Porcine circovirus 2 tmpte7i6ely_mondo_relaxed.owl Porcine circovirus type 2|PCV2|Porcine circovirus Type II|Porcine circovirus-2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011064 biolink:NamedThing lethal chondrodysplasia, Seller type tmpte7i6ely_mondo_relaxed.owl chondrodysplasia, lethal, with long bone angulation and mixed bone density|lethal chondrodysplasia seller type OMIM:601376|MESH:C563330|UMLS:C1832410|Orphanet:1421|GARD:0003226|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type owl:Class CHEBI:36830 biolink:NamedThing monoanion tmpte7i6ely_mondo_relaxed.owl monoanions owl:Class MONDO:0000306 biolink:NamedThing trichosporonosis Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. tmpte7i6ely_mondo_relaxed.owl Trichosporon disease or disorder|Trichosporon infectious disease|Trichosporon caused disease or disorder SCTID:240761008|DOID:0050290|UMLS:C0343939|MESH:D060586 owl:Class MONDO:0015345 biolink:NamedThing perioral myoclonia with absences Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. tmpte7i6ely_mondo_relaxed.owl POMA Orphanet:139426|SCTID:766815007 owl:Class HGNC:21014 biolink:NamedThing ANTXR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009764 biolink:NamedThing ocular motor apraxia, Cogan type Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. tmpte7i6ely_mondo_relaxed.owl COMA|Cogan's syndrome type 2|oculomotor apraxia Cogan type|Cogan syndrome type 2|saccade initiation failure congenital|ocular motor apraxia|oculomotor apraxia, Cogan type|saccade initiation failure, congenital|congenital oculomotor apraxia GARD:0000016|ICD10:H51.8|MESH:C537423|Orphanet:1125|SCTID:405809000|OMIM:257550 owl:Class MONDO:0033653 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 18 tmpte7i6ely_mondo_relaxed.owl MC4DN18 OMIM:619062 owl:Class MONDO:0003898 biolink:NamedThing pediatric myxoid chondrosarcoma A myxoid chondrosarcoma occurring in children. tmpte7i6ely_mondo_relaxed.owl pediatric myxoid chondrosarcoma|childhood myxoid chondrosarcoma|myxoid chondrosarcoma of childhood UMLS:C1332984|DOID:6494|NCIT:C27377 owl:Class MONDO:0100285 biolink:NamedThing extrahepatic biliary atresia A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. tmpte7i6ely_mondo_relaxed.owl biliary atresia, extrahepatic|EHBA UMLS:C4520983|OMIM:210500 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2663 owl:Class MONDO:0007144 biolink:NamedThing aortic arch interruption, facial palsy, and retinal coloboma tmpte7i6ely_mondo_relaxed.owl aortic arch interruption, facial palsy, and retinal coloboma MESH:C566271|UMLS:C1862681|OMIM:107550 owl:Class HP:0003272 biolink:NamedThing Abnormal hip bone morphology An abnormality of the hip bone. tmpte7i6ely_mondo_relaxed.owl Abnormality of the hips|Abnormality of the hip bone UMLS:C4021735 The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. human_phenotype owl:Class MONDO:0007627 biolink:NamedThing focal facial dermal dysplasia type I Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia. tmpte7i6ely_mondo_relaxed.owl FFDD1|Brauer syndrome|FFDD type I|focal facial dermal dysplasia 1, Brauer type|bitemporal aplasia cutis congenita|focal facial dermal dysplasia type 1|FFDD, type 1|hereditary symmetrical aplastic nevi of temples UMLS:CN776929|ICD10:Q82.8|Orphanet:398166|OMIM:136500|Orphanet:79133|GARD:0008416 owl:Class CHEBI:33300 biolink:NamedThing pnictogen Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. tmpte7i6ely_mondo_relaxed.owl nitrogenoideos|pnictogene|nitrogenoides|group V elements|group 15 elements|pnictogens|pnictogenes owl:Class MONDO:0021025 biolink:NamedThing cirrhosis, familial, with antigenemia tmpte7i6ely_mondo_relaxed.owl cirrhosis, familial OMIM:118900 owl:Class HGNC:6193 biolink:NamedThing JAK3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003980 biolink:NamedThing cerebellum fissure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0001185 biolink:NamedThing right renal artery tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015783 biolink:NamedThing smooth muscle layer in fatty layer of subcutaneous tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011460 biolink:NamedThing arrhythmogenic right ventricular dysplasia 6 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. tmpte7i6ely_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia type 6|arrhythmogenic right ventricular cardiomyopathy 6|ARVC6|arrhythmogenic right ventricular dysplasia, familial, 6|familial arrhythmogenic right ventricular dysplasia 6|ARVD6 OMIM:604401|ICD10:I42.8|DOID:0110075|UMLS:C1858378|MESH:C565775|Orphanet:217656 owl:Class GO:0048209 biolink:NamedThing regulation of vesicle targeting, to, from or within Golgi Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus. tmpte7i6ely_mondo_relaxed.owl regulation of Golgi vesicle targeting owl:Class MONDO:0006075 biolink:NamedThing adrenal gland myelolipoma A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues. tmpte7i6ely_mondo_relaxed.owl MYELOLIPOMA, benign|Myelolipoma|adrenal gland myelolipoma ICDO:8870/0|SCTID:719049003|EFO:1000074|NCIT:C3736|MESH:D018209|UMLS:C0206635 owl:Class MONDO:0007808 biolink:NamedThing ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). tmpte7i6ely_mondo_relaxed.owl Curth-Macklin type ichthyosis hystrix|ichthyosis HYSTRIX, Curth-Macklin type|ichthyosis hystrix, Curth-Macklin type|IHCM|ichthyosis hystrix, Curth Macklin type ICD9:757.39|Orphanet:79503|OMIM:146590|UMLS:C1840296|GARD:0002954|MESH:C536088|SCTID:254170001|ICD10:Q80.8 owl:Class GO:0006760 biolink:NamedThing folic acid-containing compound metabolic process The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. tmpte7i6ely_mondo_relaxed.owl folic acid and derivative metabolic process|folate-containing compound metabolic process|folate and derivative metabolism|vitamin M and derivative metabolism|folic acid and derivative metabolism|vitamin M and derivative metabolic process|folate-containing compound metabolism|folate and derivative metabolic process|folic acid-containing compound metabolism|vitamin B9 and derivative metabolism|vitamin B9 and derivative metabolic process owl:Class GO:0002251 biolink:NamedThing organ or tissue specific immune response An immune response taking place in an organ or tissues such as the liver, brain, mucosa, or nervous system tissues. tmpte7i6ely_mondo_relaxed.owl immune response in organ or tissue owl:Class MONDO:0002916 biolink:NamedThing brainstem intraparenchymal clear cell meningioma A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells. tmpte7i6ely_mondo_relaxed.owl brain stem intraparenchymal clear cell meningioma|intraparenchymal clear cell meningioma of brainstem|intraparenchymal clear cell meningioma of the brainstem UMLS:C1332612|NCIT:C5295|DOID:4209 owl:Class HGNC:29843 biolink:NamedThing NSMF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007443 biolink:NamedThing congenital unilateral hypoplasia of depressor anguli oris Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). tmpte7i6ely_mondo_relaxed.owl Cayler cardiofacial syndrome|facial paresis, partial, unilateral|depressor anguli oris muscle, hypoplasia of|isolated asymmetric crying facies|asymmetric crying facies ICD10:Q87.0|SCTID:51409009|ICD9:759.89|Orphanet:1166|OMIM:125520 Editor note: TODO check relationship to 22q11.2 deletion syndrome owl:Class MONDO:0004140 biolink:NamedThing intermediate malignant teratoma An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. tmpte7i6ely_mondo_relaxed.owl malignant teratoma, intermediate (morphologic abnormality)|malignant teratoma, intermediate|Intermediate immature teratoma DOID:7202|NCIT:C4288|ICDO:9083/3|UMLS:C0334522 owl:Class UBERON:0006591 biolink:NamedThing transformed artery tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0055088 biolink:NamedThing lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002556 biolink:NamedThing microcystic/reticular schwannoma The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue. tmpte7i6ely_mondo_relaxed.owl microcystic/reticular schwannoma UMLS:C4054526|NCIT:C5321 owl:Class MONDO:0019819 biolink:NamedThing double-orifice mitral valve tmpte7i6ely_mondo_relaxed.owl Orphanet:95474|ICD9:746.89|ICD10:Q23.8|SCTID:253402005 owl:Class MONDO:0009374 biolink:NamedThing hydroxyprolinemia tmpte7i6ely_mondo_relaxed.owl 4-hydroxy-L-proline oxidase deficiency|hydroxyprolinemia|Hydroxyprolinemia|hydroxyprolinemia (disease)|HYDROXYPROLINEMIA|4 alpha hydroxy-L-proline oxidase deficiency hydroxyprolinemia (disease) HP:0003260|SCTID:25739007|UMLS:C0268531|GARD:0010717|MESH:C562669|ICD9:270.8|OMIM:237000 owl:Class MONDO:0011648 biolink:NamedThing radiation-induced meningioma tmpte7i6ely_mondo_relaxed.owl radiation induced meningioma|Mnri|meningioma, radiation-induced UMLS:C1853554|OMIM:606190|MESH:C536266|GARD:0008491|Orphanet:2495 https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma owl:Class MONDO:0008665 biolink:NamedThing ptosis-vocal cord paralysis syndrome Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl congenital bilateral recurrent nerve paralysis and ptosis|vocal cord paralysis and ptosis|ptosis vocal cord paralysis|tucker syndrome UMLS:C1860403|MESH:C536923|GARD:0000427|Orphanet:2997|OMIM:193240 owl:Class HGNC:27561 biolink:NamedThing TSEN54 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004085 biolink:NamedThing choroid epithelioid cell melanoma A epithelioid cell melanoma that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl epithelioid cell melanoma of the choroid|epithelioid cell melanoma of optic choroid|optic choroid epithelioid cell melanoma|choroid epithelioid cell melanoma|choroidal epithelioid cell melanoma|epithelioid cell melanoma of choroid DOID:7041|NCIT:C6102|UMLS:C1333024 owl:Class MONDO:0015753 biolink:NamedThing cap myopathy Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. tmpte7i6ely_mondo_relaxed.owl congenital myopathy with caps|Cap disease Orphanet:171881|MESH:C579969|ICD10:G71.2|OMIM:609284|UMLS:C3710589|GARD:0011915|SCTID:703532002|OMIM:609285 https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy owl:Class MONDO:0007310 biolink:NamedThing Charcot-Marie-Tooth disease, Guadalajara neuronal type tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease, Guadalajara neuronal type OMIM:118230|MESH:C566137|UMLS:C1861673 Editor note: consider relationship to type 2 owl:Class HGNC:17861 biolink:NamedThing TRAF3IP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016053 biolink:NamedThing isolated cerebellar vermis hypoplasia Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. tmpte7i6ely_mondo_relaxed.owl SCTID:766709000|Orphanet:199630|ICD10:Q04.3 owl:Class HGNC:30260 biolink:NamedThing PNPO tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11708 biolink:NamedThing TDO2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032860 biolink:NamedThing intellectual developmental disorder, autosomal recessive 72 tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72|Mental Retardation, Autosomal Recessive 72|MRT72 OMIM:618665 owl:Class MONDO:0033361 biolink:NamedThing developmental and epileptic encephalopathy, 52 tmpte7i6ely_mondo_relaxed.owl DEE52|epileptic encephalopathy, early infantile, 52|EIEE52 DOID:0080455|Orphanet:1934|OMIM:617350|UMLS:C4479236 owl:Class GO:0008217 biolink:NamedThing regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpte7i6ely_mondo_relaxed.owl control of blood pressure|blood pressure regulation|blood pressure homeostasis owl:Class MONDO:0008887 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 1 tmpte7i6ely_mondo_relaxed.owl cystic fibrosis-like syndrome|BESC1|bronchiectasis with or without elevated sweat chloride type 1|bronchiectasis with or without elevated sweat chloride 1 MESH:C567618|UMLS:C2749757|OMIM:211400|DOID:0080526|Orphanet:60033 owl:Class MONDO:0033312 biolink:NamedThing schizophrenia 19 tmpte7i6ely_mondo_relaxed.owl schizophrenia 19 with or without an affective disorder|schizophrenia 19|SCZD19 DOID:0080281|UMLS:CN404275|OMIM:617629 owl:Class CL:2000078 biolink:NamedThing placental pericyte Any pericyte cell that is part of a placenta. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T18:51:03Z cell owl:Class MONDO:0004134 biolink:NamedThing benign dermal neurilemmoma tmpte7i6ely_mondo_relaxed.owl benign neurilemmoma of the skin|benign skin schwannoma|benign dermal schwannoma|benign schwannoma of the skin|benign neurilemmoma of skin|benign skin neurilemmoma|benign schwannoma of skin UMLS:C1332490|DOID:7181|NCIT:C5569 owl:Class MONDO:0012640 biolink:NamedThing Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|Charcot-Marie-Tooth disease, type 4J|FIG4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, autosomal recessive, type 4J|autosomal recessive Charcot-Marie-Tooth disease type 4J|CMT4J NCIT:C134954|MESH:C566984|Orphanet:139515|OMIM:611228|DOID:0110184|ICD10:G60.0|UMLS:C1970011|SCTID:720638000|GARD:0012443 https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j owl:Class CL:0000561 biolink:NamedThing amacrine cell Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons. tmpte7i6ely_mondo_relaxed.owl amacrine neuron BTO:0004044|FBbt:00005127|FMA:67766 Not clear if this term overlaps with retinal bipolar neuron (CL:0000748). cell owl:Class HGNC:12033 biolink:NamedThing TRAF3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007634 biolink:NamedThing intellectual disability, FRA12A type tmpte7i6ely_mondo_relaxed.owl mental retardation, FRA12A type|intellectual disability, FRA12A type OMIM:136630|MESH:C566980|UMLS:C1969893 owl:Class HGNC:19344 biolink:NamedThing DENND5A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004161 biolink:NamedThing uterine corpus apoplectic leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. tmpte7i6ely_mondo_relaxed.owl uterine corpus leiomyoma with apoplectic change|uterine corpus hemorrhagic cellular leiomyoma DOID:7241|NCIT:C40165|UMLS:C1519852 owl:Class UBERON:0035826 biolink:NamedThing left adrenal gland medulla tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032844 biolink:NamedThing infantile liver failure syndrome 3 tmpte7i6ely_mondo_relaxed.owl ILFS3|INFANTILE LIVER FAILURE SYNDROME 3 OMIM:618641 owl:Class MONDO:0001664 biolink:NamedThing submucous uterine fibroid tmpte7i6ely_mondo_relaxed.owl submucous leiomyoma of uterus ICD10:D25.0|DOID:13222|UMLS:C0153993|ICD9:218.0|SCTID:95279007 owl:Class NCBITaxon:15957 biolink:NamedThing Phleum pratense tmpte7i6ely_mondo_relaxed.owl timothy|timothy grass GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:15956 biolink:NamedThing Phleum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005675 biolink:NamedThing border disease Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. tmpte7i6ely_mondo_relaxed.owl MESH:D001882|EFO:0007177|UMLS:C0006008 owl:Class HGNC:29569 biolink:NamedThing LIPT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001799 biolink:NamedThing localized anterior staphyloma tmpte7i6ely_mondo_relaxed.owl anterior staphyloma, localized ICD10:H15.82|ICD9:379.14|UMLS:C0155362|SCTID:21946002|DOID:13787 owl:Class CL:1001603 biolink:NamedThing lung macrophage Circulating macrophages and tissue macrophages (alveolar macrophages) of lung. tmpte7i6ely_mondo_relaxed.owl lung macrophages CALOHA:TS-0576 owl:Class MONDO:0020481 biolink:NamedThing myotonia fluctuans Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. tmpte7i6ely_mondo_relaxed.owl exercise-induced delayed-onset myotonia|MF|Fluctuating myotonia NCIT:C122789|UMLS:C0752355|Orphanet:99734|ICD10:G71.1|OMIM:608390|SCTID:715788001 owl:Class NCBITaxon:6752 biolink:NamedThing Brachyura tmpte7i6ely_mondo_relaxed.owl true crabs|short-tailed crabs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6692 biolink:NamedThing Pleocyemata tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:25414 biolink:NamedThing monoatomic monocation tmpte7i6ely_mondo_relaxed.owl monoatomic monocations|monovalent inorganic cations owl:Class MONDO:0010070 biolink:NamedThing brachyolmia type 1, Hobaek type tmpte7i6ely_mondo_relaxed.owl spondylodysplasia with Pure brachyolmia|BCYM1A|brachyolmia, recessive type of Hobaek|brachyolmia type 1, Hobaek type OMIM:271530|MESH:C537099|UMLS:C1849055|Orphanet:93301 owl:Class NCBITaxon:91888 biolink:NamedThing lamiids tmpte7i6ely_mondo_relaxed.owl euasterids I PMID:12144762|GC_ID:1 NCBITaxon:41935 ncbi_taxonomy owl:Class MONDO:0007719 biolink:NamedThing diaphragmatic hernia, congenital 1 tmpte7i6ely_mondo_relaxed.owl diaphragmatic defect, congenital|diaphragm, unilateral agenesis of|diaphragmatic hernia 1|hernia, congenital diaphragmatic|diaphragm, complete agenesis of|DIH1|hemidiaphragm, agenesis of|diaphragmatic hernia, congenital UMLS:C0235833|Orphanet:2140|OMIM:142340 owl:Class MONDO:0010262 biolink:NamedThing hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses tmpte7i6ely_mondo_relaxed.owl hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses|hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response UMLS:C1970936|GARD:0009601|MESH:C537159|OMIM:300184 owl:Class NCBITaxon:2049 biolink:NamedThing Actinomycetaceae tmpte7i6ely_mondo_relaxed.owl PMID:16558803|PMID:30186281|GC_ID:11|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0003128 biolink:NamedThing classic pulmonary blastoma A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements. tmpte7i6ely_mondo_relaxed.owl biphasic pulmonary blastoma|classic pulmonary blastoma NCIT:C36054|DOID:4767|UMLS:C1332556 owl:Class MONDO:0007261 biolink:NamedThing Carabelli anomaly of maxillary molar teeth tmpte7i6ely_mondo_relaxed.owl Carabelli anomaly of maxillary molar teeth MESH:C566175|UMLS:C1861897|OMIM:114700 owl:Class MONDO:0018020 biolink:NamedThing mercury poisoning Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. tmpte7i6ely_mondo_relaxed.owl Mercury toxicity|Mercury intoxication|mercurialism|hydrargyria Orphanet:330021|ICD9:985.0|SCTID:85180002|GARD:0007021|ICD10:T56.1|MESH:D008630|EFO:1001810 https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning owl:Class MONDO:0001815 biolink:NamedThing extrapyramidal and movement disease tmpte7i6ely_mondo_relaxed.owl ICD9:333.90|DOID:13839|ICD10:G20-G26|ICD10:G25.9|UMLS:C0477355 owl:Class MONDO:0008138 biolink:NamedThing syndromic orbital border hypoplasia Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. tmpte7i6ely_mondo_relaxed.owl orbital margin, hypoplasia OF|Urrets-Zavalia syndrome OMIM:165600|Orphanet:98606|UMLS:C1833795|UMLS:C4273912|MESH:C563490|SCTID:717337001 owl:Class MONDO:0015025 biolink:NamedThing developmental and epileptic encephalopathy, 51 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene. tmpte7i6ely_mondo_relaxed.owl MDH2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 51; EIEE51|early infantile epileptic encephalopathy caused by mutation in MDH2|epileptic encephalopathy, early infantile, 51|DEE51|epileptic encephalopathy, early infantile, type 51|EIEE51 UMLS:C4479208|OMIM:617339|UMLS:CN240510|DOID:0080433 owl:Class MONDO:0010363 biolink:NamedThing intellectual disability, X-linked 91 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked type 91|mental retardation, X-linked 91|ZDHHC15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 91|non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15|MRX91|intellectual disability, X-linked 91 OMIM:300577|MESH:C564482|UMLS:C1845142 owl:Class MONDO:0012347 biolink:NamedThing hamartoma, Precalcaneal congenital fibrolipomatous tmpte7i6ely_mondo_relaxed.owl hamartoma, Precalcaneal congenital fibrolipomatous|Pcfh UMLS:C1853298|OMIM:609808|MESH:C565226 owl:Class MONDO:0018004 biolink:NamedThing acute megakaryoblastic leukemia without down syndrome tmpte7i6ely_mondo_relaxed.owl non-DS-AMKL Orphanet:329469|ICD10:C94.2|UMLS:CN204216 owl:Class NCBITaxon:476427 biolink:NamedThing Xenopsyllinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7511 biolink:NamedThing Pulicidae tmpte7i6ely_mondo_relaxed.owl common fleas GC_ID:1 ncbi_taxonomy owl:Class HP:0001907 biolink:NamedThing Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. tmpte7i6ely_mondo_relaxed.owl Blood clot in blood vessel|Thromboembolic disease|Thromboembolic events|Embolism and thrombosis SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|UMLS:C0040038|MSH:D016769|UMLS:C0085307|MSH:D013923 human_phenotype owl:Class MONDO:0009140 biolink:NamedThing Silverman-Handmaker type dyssegmental dysplasia Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. tmpte7i6ely_mondo_relaxed.owl dyssegmental dysplasia, Silverman-Handmaker type|Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|DDSH|dyssegmental dwarfism Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type|dyssegmental dysplasia Silverman-Handmaker type MESH:C537998|ICD10:Q77.7|OMIM:224410|ICD9:759.89|GARD:0002026|DOID:0090032|Orphanet:1865|SCTID:93132001 https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type owl:Class MONDO:0011392 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 20 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 20|autosomal recessive nonsyndromic deafness type 20|DFNB20|autosomal recessive nonsyndromic deafness 20|autosomal recessive deafness 20 ICD10:H90.3|UMLS:C1858840|OMIM:604060|MESH:C565828|DOID:0110478 owl:Class MONDO:0014760 biolink:NamedThing TFRC-related combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl Cid due to TFRC deficiency|immunodeficiency 46|combined immunodeficiency due to TFRC deficiency|immunodeficiency type 46|IMD46 UMLS:C4225219|Orphanet:476113|OMIM:616740 owl:Class HGNC:17228 biolink:NamedThing RAD54B tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001231 biolink:NamedThing Abnormal fingernail morphology An abnormality of the fingernails. tmpte7i6ely_mondo_relaxed.owl Abnormal fingernails|Abnormality of the fingernails UMLS:C4021782 human_phenotype owl:Class HP:0001597 biolink:NamedThing Abnormality of the nail Abnormality of the nail. tmpte7i6ely_mondo_relaxed.owl Nail disease|Abnormality of the nail SNOMEDCT_US:17790008|MSH:D009260|UMLS:C0027339|UMLS:C0853087|MSH:D009264 Abnormality of the fingernails and/or toenails. human_phenotype owl:Class MONDO:0017583 biolink:NamedThing mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. tmpte7i6ely_mondo_relaxed.owl Orphanet:3004|ICD10:Q87.2|UMLS:CN203387 owl:Class HP:0002063 biolink:NamedThing Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. tmpte7i6ely_mondo_relaxed.owl Rigidity|Muscle rigidity UMLS:C0026837|SNOMEDCT_US:16046003|MSH:D009127 Rigidity is often a manifestation of basal ganglia diseases. human_phenotype owl:Class MONDO:0043959 biolink:NamedThing pseudolymphoma A neoplastic process that resembles a malignant lymphoma, but has a benign course. tmpte7i6ely_mondo_relaxed.owl lymphocytomas|benign lymphoid hyperplasia|lymphocytoma|lymphoid hyperplasia, reactive|pseudolymphoma|pseudolymphomas|hyperplasia, reactive lymphoid|lymphoid Hyperplasias, reactive|reactive lymphoid Hyperplasias|reactive lymphoid hyperplasia|hyperplasias, reactive lymphoid UMLS:C0221269|EFO:1001414|NCIT:C3825|SCTID:19750001|MESH:D019310 owl:Class MONDO:0023035 biolink:NamedThing Eagle syndrome Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%. tmpte7i6ely_mondo_relaxed.owl styloid-stylohoid syndrome|elongated styloid process which causes cervico facial pain tinnitus and otalgia|elongated styloid process syndrome|Eagle's syndrome ICD9:733.99|GARD:0009401|MESH:C538010|SCTID:609143007 https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome owl:Class MONDO:0054743 biolink:NamedThing polycystic liver disease 3 with or without kidney cysts Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts. tmpte7i6ely_mondo_relaxed.owl PCLD3|polycystic liver disease 3 with or without kidney cysts UMLS:CN818986|OMIM:617874 owl:Class MONDO:0012713 biolink:NamedThing spondylometaphyseal dysplasia, East African type tmpte7i6ely_mondo_relaxed.owl spondylometaphyseal dysplasia, East African type|spondylometaphyseal dysplasia East-African type MESH:C535796|UMLS:C2673686|GARD:0004992|OMIM:611702 https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type owl:Class MONDO:0011590 biolink:NamedThing anisomastia tmpte7i6ely_mondo_relaxed.owl anisomastia OMIM:605746|MESH:C565299 owl:Class MONDO:0014692 biolink:NamedThing retinitis pigmentosa 74 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 74|retinitis pigmentosa type 74|BBS2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in BBS2|RP74 DOID:0110401|ICD10:H35.5|UMLS:C4225281|OMIM:616562|Orphanet:791 owl:Class MONDO:0007449 biolink:NamedThing dermo-odonto dysplasia Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hair-nail-Tooth type|dermo-odonto dysplasia|DERMOODONTODYSPLASIA|dermoodonto dysplasia|dermo-odonto-dysplasia|dermo odontodysplasia MESH:C565103|UMLS:C4303591|GARD:0001816|OMIM:125640|Orphanet:1660|ICD10:Q82.4|SCTID:721091003|UMLS:C1852144 owl:Class CHEBI:35618 biolink:NamedThing aromatic ether Any ether in which the oxygen is attached to at least one aryl substituent. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018594 biolink:NamedThing secondary polyarteritis nodosa Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). tmpte7i6ely_mondo_relaxed.owl secondary PAN|Scondary PAN|secondary periarteritis nodosa UMLS:CN237624|ICD10:M30.8|Orphanet:439746 owl:Class MONDO:0033368 biolink:NamedThing developmental and epileptic encephalopathy, 59 tmpte7i6ely_mondo_relaxed.owl infantile epileptic encephalopathy 59|EIEE59|epileptic encephalopathy, early infantile, 59|DEE59 DOID:0080291|OMIM:617904|UMLS:CN870853 owl:Class MONDO:0021645 biolink:NamedThing esophageal varices with bleeding tmpte7i6ely_mondo_relaxed.owl ICD9:456.0|ICD10:I85.01|ICD10:I85.0|SCTID:17709002 owl:Class MONDO:0008619 biolink:NamedThing ulna metaphyseal dysplasia syndrome Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. tmpte7i6ely_mondo_relaxed.owl Rosenberg-Lohr syndrome|metaphyseal chondrodysplasia, Rosenberg type|Rosenberg Lohr syndrome|metaphyseal chondroplasia Rosenberg type|ulna metaphyseal dysplasia syndrome|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna UMLS:C1860615|SCTID:715242008|ICD10:Q78.5|Orphanet:1837|GARD:0004740|OMIM:191420|MESH:C536935 https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome owl:Class MONDO:0004758 biolink:NamedThing scotoma A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions. tmpte7i6ely_mondo_relaxed.owl scotoma (disease)|blind spot area scotoma|generalized visual field contraction or constriction|scotoma|enlarged paracaecal scotoma|enlarged blind spot|enlarged angioscotoma|scotoma of blind spot area|sector or arcuate visual field defects scotoma (disease) ICD9:368.44|ICD9:368.42|ICD10:H53.43|ICD10:H53.42|MESH:D012607|ICD9:368.43|ICD9:368.45|HP:0000575|DOID:9335|ICD10:H53.45 owl:Class HP:0004299 biolink:NamedThing Hernia of the abdominal wall The presence of a hernia in the abdominal wall. tmpte7i6ely_mondo_relaxed.owl Herniated abdominal wall Fyler:4414|UMLS:C1442978|SNOMEDCT_US:128545000 A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. peter 2008-02-20T11:42:00Z human_phenotype owl:Class UBERON:0022276 biolink:NamedThing splenic flexure of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014080 biolink:NamedThing osteosclerotic metaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl OSMD|osteosclerotic metaphyseal dysplasia Orphanet:500548|OMIM:615198|UMLS:C3554665 owl:Class MONDO:0024507 biolink:NamedThing aniridia 1 tmpte7i6ely_mondo_relaxed.owl aniridia II, formerly|AN1|cataract, congenital, with late-onset corneal dystrophy|aniridia 1|aniridia II Orphanet:250923|UMLS:C0003076|SCTID:253231007|OMIM:106210 owl:Class MONDO:0030482 biolink:NamedThing spastic paraplegia 84, autosomal recessive tmpte7i6ely_mondo_relaxed.owl SPG84 OMIM:619621 owl:Class MONDO:0002455 biolink:NamedThing exocervical carcinoma A carcinoma that arises from the squamous epithelium of the exocervix. tmpte7i6ely_mondo_relaxed.owl exocervical cancer|ectocervix carcinoma|exocervix carcinoma|carcinoma of the exocervix|carcinoma of ectocervix|exocervical carcinoma|carcinoma of exocervix UMLS:C1299238|SCTID:372100004|NCIT:C7453|DOID:2892 owl:Class MONDO:0030489 biolink:NamedThing epidermolysis bullosa simplex 2A, generalized severe tmpte7i6ely_mondo_relaxed.owl EBS2A OMIM:619555 owl:Class UBERON:0011601 biolink:NamedThing gingiva of upper jaw tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014001 biolink:NamedThing Usher syndrome type 1K An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1. tmpte7i6ely_mondo_relaxed.owl USHER syndrome, type IK|USH1K|Usher syndrome type IK OMIM:614990|Orphanet:886|Orphanet:231169|ICD10:H35.5|UMLS:C3539124|DOID:0110837 owl:Class NCBITaxon:4479 biolink:NamedThing Poaceae tmpte7i6ely_mondo_relaxed.owl Bambusaceae|grass family|Gramineae GC_ID:1 NCBITaxon:1661618 ncbi_taxonomy owl:Class MONDO:0032906 biolink:NamedThing spastic paraplegia 82, autosomal recessive tmpte7i6ely_mondo_relaxed.owl SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE|SPG82 OMIM:618770 owl:Class HP:0033062 biolink:NamedThing Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpte7i6ely_mondo_relaxed.owl peter human_phenotype owl:Class CHEBI:50176 biolink:NamedThing keratolytic drug A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases. tmpte7i6ely_mondo_relaxed.owl desquamating agent|skin-peeling agent|keratolytic agent|keratolytic drugs owl:Class MONDO:0012813 biolink:NamedThing retinitis pigmentosa 29 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. tmpte7i6ely_mondo_relaxed.owl RP 29|RP29|retinitis pigmentosa 29|retinitis pigmentosa type 29 UMLS:C2677325|ICD10:H35.5|GARD:0010378|OMIM:612165|Orphanet:791|MESH:C567403|DOID:0110378 https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29 owl:Class MONDO:0007156 biolink:NamedThing arthritis, sacroiliac tmpte7i6ely_mondo_relaxed.owl arthritis, sacroiliac OMIM:108100|MESH:C563037|UMLS:C0748473 owl:Class MONDO:0001318 biolink:NamedThing functional gastric disease tmpte7i6ely_mondo_relaxed.owl functional gastric disturbance|functional gastric disorder|disorder of stomach function|disorder of gastric function|disorder of function of stomach ICD9:536.8|DOID:1159|SCTID:386211005|ICD9:536.9|SCTID:150541000119104|ICD9:306.4 owl:Class NCBITaxon:2044726 biolink:NamedThing Dioctophymatida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:11714 biolink:NamedThing TEAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021151 biolink:NamedThing non-genetic tmpte7i6ely_mondo_relaxed.owl non-genomic owl:Class MONDO:0021149 biolink:NamedThing genetic vs non-genetic etiology tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:8043 biolink:NamedThing Gadiformes tmpte7i6ely_mondo_relaxed.owl cods and others GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1980519 biolink:NamedThing Crimean-Congo hemorrhagic fever orthonairovirus tmpte7i6ely_mondo_relaxed.owl Crimean-Congo hemorrhagic fever nairovirus|Crimean-Congo hemorrhagic fever virus|Crimean-Congo hemorrhagic virus|CCHFV|Crimean-Congo haemorrhagic fever virus GC_ID:1 NCBITaxon:11593 ncbi_taxonomy owl:Class NCBITaxon:1980517 biolink:NamedThing Orthonairovirus tmpte7i6ely_mondo_relaxed.owl Nairovirus|Nairoviruses GC_ID:1 NCBITaxon:11592 ncbi_taxonomy owl:Class MONDO:0009076 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 1A An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. tmpte7i6ely_mondo_relaxed.owl connexin 26 deafness|DFNB1A|deafness, digenic, GJB2/GJB6|GJB2-related deafness|autosomal recessive nonsyndromic deafness 1A|autosomal recessive nonsyndromic deafness type 1A|deafness, digenic, GJB2/GJB3|deafness, autosomal recessive 1A|deafness, autosomal recessive type 1A|deafness nonsyndromic, connexin 26 linked|autosomal recessive deafness 1A|DFNB1 MESH:C567134|ICD10:H90.3|GARD:0001697|OMIM:220290|DOID:0110475|NCIT:C129022 https://rarediseases.info.nih.gov/diseases/1697/dfnb1 owl:Class HP:0000364 biolink:NamedThing Hearing abnormality An abnormality of the sensory perception of sound. tmpte7i6ely_mondo_relaxed.owl Hearing abnormality|Abnormal hearing UMLS:C4025860 According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. human_phenotype owl:Class MONDO:0018304 biolink:NamedThing Schnitzler syndrome A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. tmpte7i6ely_mondo_relaxed.owl chronic urticaria with macroglobulinemia|chronic urticaria with gammapathy|chronic urticaria with gammopathy UMLS:C0524988|MESH:D019873|ICD10:L50.8|GARD:0012390|DOID:4371|EFO:1001165|ICD9:708.8|Orphanet:37748|SCTID:402415001|MedDRA:10062908 https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome owl:Class MONDO:0007544 biolink:NamedThing eosinophilia, familial Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors. tmpte7i6ely_mondo_relaxed.owl Eos|eosinophilia, familial|familial eosinophilia OMIM:131400|SCTID:79336007|MESH:C562722|GARD:0010521 https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia owl:Class MONDO:0033261 biolink:NamedThing hearing loss, autosomal dominant 34, with or without inflammation tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 34|DFNA34|deafness, autosomal dominant 34, with or without inflammation OMIM:617772|UMLS:CN653906|DOID:0080270 owl:Class MONDO:0011657 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 24 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 24|autosomal dominant nonsyndromic deafness 24|autosomal dominant deafness 24|DFNA24|DFNA 24|autosomal dominant nonsyndromic deafness type 24|deafness, autosomal dominant nonsyndromic sensorineural 24 ICD10:H90.3|UMLS:C1853451|DOID:0110554|GARD:0009166|MESH:C565239|OMIM:606282 owl:Class MONDO:0009702 biolink:NamedThing myopathy due to malate-aspartate shuttle defect tmpte7i6ely_mondo_relaxed.owl myopathy due to malate-aspartate shuttle defect OMIM:254960|UMLS:C1850744|MESH:C564973 owl:Class MONDO:0010849 biolink:NamedThing palmoplantar keratoderma, Bothnian type tmpte7i6ely_mondo_relaxed.owl palmoplantar keratoderma, Bothnian type|PPKB Orphanet:2337|GARD:0001862|DOID:0111707|OMIM:600231 owl:Class MONDO:0017567 biolink:NamedThing macrodactyly of toes, bilateral tmpte7i6ely_mondo_relaxed.owl macrodactyly of foot, bilateral ICD10:Q74.2|Orphanet:295245 owl:Class MONDO:0009132 biolink:NamedThing dysautonomia-like disorder tmpte7i6ely_mondo_relaxed.owl dysautonomia-like disorder|dysautonomia like disorder MESH:C535728|GARD:0009475|UMLS:C1857153|OMIM:224000 https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder owl:Class MONDO:0007418 biolink:NamedThing Darwinian tubercle of pinna tmpte7i6ely_mondo_relaxed.owl Darwinian Notch|Darwinian point of Pinna|Darwinian tubercle of pinna OMIM:124300|OMIM:124400|UMLS:C2751189 Editor notes: OMIM treats this as two diseases owl:Class MONDO:0011690 biolink:NamedThing Camurati-Engelmann disease, type 2 Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl Camurati Engelmann disease, type 2|progressive diaphyseal dysplasia with striations of the bones|CAEND2|Camurati-Engelmann disease, type 2 GARD:0008748|MESH:C537978|UMLS:C2931683|OMIM:606631 owl:Class UBERON:0036186 biolink:NamedThing fibroelastic connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2909 biolink:NamedThing DLL3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011585 biolink:NamedThing cell condensation tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:25154 biolink:NamedThing manganese molecular entity tmpte7i6ely_mondo_relaxed.owl manganese compounds|manganese molecular entity|manganese molecular entities owl:Class MONDO:0032795 biolink:NamedThing intellectual developmental disorder 59 tmpte7i6ely_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 59|INTELLECTUAL DEVELOPMENTAL DISORDER 59|intellectual developmental disorder 59|MRD59 OMIM:618522 owl:Class GO:0032780 biolink:NamedThing negative regulation of ATPase activity Any process that stops or reduces the rate of ATP hydrolysis by an ATPase. tmpte7i6ely_mondo_relaxed.owl inhibition of ATPase activity|down regulation of ATPase activity|down-regulation of ATPase activity|downregulation of ATPase activity|negative regulation of adenosinetriphosphatase activity owl:Class MONDO:0004876 biolink:NamedThing myocardial stunning Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. tmpte7i6ely_mondo_relaxed.owl MESH:D017682|UMLS:C0206146|DOID:9767 owl:Class MONDO:0009471 biolink:NamedThing intrinsic factor and r binder, combined congenital deficiency of tmpte7i6ely_mondo_relaxed.owl intrinsic factor and r binder, combined congenital deficiency of Orphanet:332|MESH:C565461|UMLS:C1855721|OMIM:243320 owl:Class MONDO:0007957 biolink:NamedThing mediosternal depigmentation line tmpte7i6ely_mondo_relaxed.owl mediosternal depigmentation line OMIM:155200 owl:Class NCIT:C37123 biolink:NamedThing Neoplastic Spindle-Shaped to Round Cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002762 biolink:NamedThing esophagus verrucous carcinoma A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO) tmpte7i6ely_mondo_relaxed.owl esophageal verrucous carcinoma|verrucous carcinoma of esophagus|esophageal verrucous cancer|esophagus verrucous carcinoma|verrucous carcinoma of the esophagus NCIT:C27420|UMLS:C1333470|DOID:3747 owl:Class MONDO:0017454 biolink:NamedThing triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. tmpte7i6ely_mondo_relaxed.owl TPT-PS syndrome OMIM:174500|ICD10:Q74.8|UMLS:CN203197|Orphanet:2950 owl:Class HGNC:20340 biolink:NamedThing PRICKLE2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8808 biolink:NamedThing PDHB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054849 biolink:NamedThing inflammatory bowel disease 29 tmpte7i6ely_mondo_relaxed.owl IBD29|inflammatory bowel disease 29 OMIM:618077 owl:Class MONDO:0007754 biolink:NamedThing hyperhidrosis palmaris ET plantaris tmpte7i6ely_mondo_relaxed.owl HYPRPP|hyperhidrosis palmaris ET plantaris|hyperhidrosis, primary palmar UMLS:C1274743|MESH:C563185|OMIM:144110 owl:Class MONDO:0018419 biolink:NamedThing autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. tmpte7i6ely_mondo_relaxed.owl SPG67 UMLS:CN226126|ICD10:G11.4|SCTID:766767001|Orphanet:401820 owl:Class CHEBI:33654 biolink:NamedThing alicyclic compound An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. tmpte7i6ely_mondo_relaxed.owl alicyclic compounds owl:Class CHEBI:33653 biolink:NamedThing aliphatic compound Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds. tmpte7i6ely_mondo_relaxed.owl aliphatic compounds owl:Class CL:0000530 biolink:NamedThing primary neuron tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0016500 biolink:NamedThing acute sensory ataxic neuropathy Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. tmpte7i6ely_mondo_relaxed.owl ASAN|acute sensory ataxic Guillain-BarrC) syndrome|acute sensory ataxic Guillain-Barré syndrome|acute sensory ataxic GBS Orphanet:231466|SCTID:766049000|ICD10:G61.0|UMLS:CN201503 owl:Class MONDO:0100468 biolink:NamedThing Batten-Turner congenital myopathy A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. tmpte7i6ely_mondo_relaxed.owl OMIM:255300 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0015786 biolink:NamedThing Prader-Willi syndrome due to imprinting mutation tmpte7i6ely_mondo_relaxed.owl Orphanet:177910|ICD10:Q87.1|UMLS:CN200368 owl:Class HGNC:10879 biolink:NamedThing STIL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012366 biolink:NamedThing gallbladder disease 3 tmpte7i6ely_mondo_relaxed.owl GBD3|gallbladder disease 3 UMLS:C1835924|OMIM:609919|MESH:C563686 owl:Class HGNC:2623 biolink:NamedThing CYP2C9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003651 biolink:NamedThing macrotrabecular hepatoblastoma A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae. tmpte7i6ely_mondo_relaxed.owl DOID:5798|UMLS:C1334543|NCIT:C7095 owl:Class UBERON:0034926 biolink:NamedThing anatomical row tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020706 biolink:NamedThing Heberden's node Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis. tmpte7i6ely_mondo_relaxed.owl tuberculum arthriticum|Heberden's node SCTID:239869009|NCIT:C34671 owl:Class MONDO:0017354 biolink:NamedThing infantile glycine encephalopathy Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures. tmpte7i6ely_mondo_relaxed.owl infantile NKH|infantile onset glycine encephalopathy|infantile non-ketotic hyperglycinemia|glycine encephalopathy of infancy ICD10:E72.5|Orphanet:289860 owl:Class MONDO:0018845 biolink:NamedThing focal myositis Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. tmpte7i6ely_mondo_relaxed.owl focal nodular myositis|inflammatory pseudotumor of skeletal muscle ICD10:M60.8|ICD9:729.1|SCTID:240119009|Orphanet:48918 owl:Class UBERON:0007254 biolink:NamedThing intervertebral disk of thoracic vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017544 biolink:NamedThing zygodactyly type 3 tmpte7i6ely_mondo_relaxed.owl Zygodactyly, Montagu type|syndactyly type 1, Montagu type|syndactyly type 1c|SD1c|SD1, Montagu type UMLS:CN203276|ICD10:Q70.2|ICD10:Q70.3|Orphanet:295191|ICD10:Q70.0|ICD10:Q70.1 owl:Class MONDO:0009413 biolink:NamedThing immunodeficiency, common variable, 2 tmpte7i6ely_mondo_relaxed.owl antibody deficiency due to TACI defect|immunodeficiency, common variable, 2|CVID2|hypogammaglobulinemia due to TACI deficiency|immunodeficiency, common variable, type 2 Orphanet:1572|UMLS:C3150354|OMIM:240500 owl:Class UBERON:0010084 biolink:NamedThing future diaphragm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010971 biolink:NamedThing infundibulopelvic stenosis-multicystic kidney syndrome Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. tmpte7i6ely_mondo_relaxed.owl infundibulopelvic dysgenesis UMLS:C1832949|GARD:0003005|SCTID:725905005|MESH:C535528|OMIM:600989|Orphanet:1849 owl:Class HGNC:16691 biolink:NamedThing TUBGCP4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054860 biolink:NamedThing hearing loss, autosomal recessive 110 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 110|DFNB110 DOID:0111644|OMIM:618094 owl:Class MONDO:0017316 biolink:NamedThing short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). tmpte7i6ely_mondo_relaxed.owl short stature deafness neutrophil dysfunction|thong Douglas Ferrante syndrome|thong-Douglas-Ferrante syndrome SCTID:716192009|ICD10:Q87.1|Orphanet:2866|GARD:0004841 owl:Class MONDO:0033559 biolink:NamedThing intellectual developmental disorder with seizures and language delay tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY|IDDSELD OMIM:619000 owl:Class UBERON:0001513 biolink:NamedThing skin of pes tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009879 biolink:NamedThing short stature due to growth hormone qualitative anomaly Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin|Biodefective Growth hormone|Kowarski syndrome|KOWARSKI syndrome UMLS:C1849779|Orphanet:629|ICD10:E23.0|Orphanet:631|GARD:0000408|OMIM:262650|MESH:C537505 owl:Class MONDO:0010226 biolink:NamedThing 46,XY sex reversal 2 tmpte7i6ely_mondo_relaxed.owl 46,XY Sex reversal, Dax1-related|46,XY Sex reversal type 2|46,XY SEX reversal 2|dosage-sensitive Sex reversal|SRXY2|46,XY sex reversal 2 MESH:C535601|UMLS:C1848296|OMIM:300018|Orphanet:251510|Orphanet:242|DOID:0111777 owl:Class MONDO:0010320 biolink:NamedThing retinitis pigmentosa 23 Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in OFD1|retinitis pigmentosa 23|retinitis pigmentosa type 23|RP23|RP 23|OFD1 retinitis pigmentosa OMIM:300424|DOID:0110412|GARD:0010391|ICD10:H35.5|UMLS:C1419610|Orphanet:791 https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23 owl:Class GO:0031406 biolink:NamedThing carboxylic acid binding Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014031 biolink:NamedThing microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety. tmpte7i6ely_mondo_relaxed.owl facial dysmorphism, intellectual disability, and primordial dwarfism|ALAZS|Alazami syndrome UMLS:C3554439|ICD10:Q87.1|OMIM:615071|Orphanet:319671 owl:Class MONDO:0014553 biolink:NamedThing Tenorio syndrome tmpte7i6ely_mondo_relaxed.owl TENORIO syndrome|Tenorio syndrome|TNORS|overgrowth, macrocephaly, and intellectual disability syndrome OMIM:616260|UMLS:C4015710 owl:Class NCBITaxon:197912 biolink:NamedThing Betainfluenzavirus tmpte7i6ely_mondo_relaxed.owl Influenzavirus B GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004087 biolink:NamedThing basaloid large cell lung carcinoma A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis. tmpte7i6ely_mondo_relaxed.owl basaloid large cell carcinoma of the lung|basaloid large cell lung carcinoma|basaloid lung carcinoma ONCOTREE:BLCLC|NCIT:C7266|DOID:7045|UMLS:C1332463 owl:Class MONDO:0001216 biolink:NamedThing pulp degeneration Deterioration of the normal pulp tissue. tmpte7i6ely_mondo_relaxed.owl UMLS:C0034100|SCTID:22361007|DOID:11189|ICD9:522.2|NCIT:C34962|ICD10:K04.2 owl:Class MONDO:0001050 biolink:NamedThing malignant otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. tmpte7i6ely_mondo_relaxed.owl SCTID:94146005|ICD10:H60.2|ICD9:380.14|ICD10:H60.20|DOID:10516|UMLS:C0155395 owl:Class MONDO:0008793 biolink:NamedThing angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert tmpte7i6ely_mondo_relaxed.owl angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert|Divry-Van Bogaert syndrome|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin MESH:C536367|OMIM:206570|UMLS:C1859783|GARD:0008587 https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert owl:Class MONDO:0020205 biolink:NamedThing bulbar conjunctival dermoid or conjunctival dermolipoma tmpte7i6ely_mondo_relaxed.owl Orphanet:98617 owl:Class NCBITaxon:3758 biolink:NamedThing Prunus domestica tmpte7i6ely_mondo_relaxed.owl Prunus domestica subsp. intermedia|plum GC_ID:1 NCBITaxon:114938 ncbi_taxonomy owl:Class MONDO:0035112 biolink:NamedThing acute myeloid leukemia with BCR-ABL1 tmpte7i6ely_mondo_relaxed.owl acute myeloid leukemia with t(9;22)(q34.1;q11.2)|AML with BCR-ABL1|AML with t(9;22)(q34.1;q11.2) NCIT:C129785|Orphanet:585867 owl:Class MONDO:0032920 biolink:NamedThing juvenile arthritis due to defect in LACC1 tmpte7i6ely_mondo_relaxed.owl JUVAR|JUVENILE ARTHRITIS OMIM:618795 owl:Class MONDO:0002721 biolink:NamedThing necrosis of pituitary Ischemic or hemorrhagic necrosis of the pituitary gland. tmpte7i6ely_mondo_relaxed.owl pituitary gland Necrosis|pituitary necrosis SCTID:59572000|NCIT:C27066|UMLS:C0271558|DOID:3646 owl:Class MONDO:0020709 biolink:NamedThing Majocchi granuloma An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. tmpte7i6ely_mondo_relaxed.owl Majocchi's granuloma owl:Class MONDO:0033012 biolink:NamedThing erythrokeratodermia variabilis et progressiva 2 tmpte7i6ely_mondo_relaxed.owl EKVP2|erythrokeratodermia variabilis ET progressiva 2 DOID:0080248|UMLS:C4479618|Orphanet:317|OMIM:617524 owl:Class MONDO:0010536 biolink:NamedThing tubulin, beta tmpte7i6ely_mondo_relaxed.owl tubulin, beta OMIM:301850 owl:Class CL:0002553 biolink:NamedThing fibroblast of lung A fibroblast that is part of lung. tmpte7i6ely_mondo_relaxed.owl BTO:0000764|CALOHA:TS-0575 tmeehan 2011-02-28T05:11:03Z cell owl:Class MONDO:0022070 biolink:NamedThing Cantu sanchez-corona hernandez syndrome Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies tmpte7i6ely_mondo_relaxed.owl GARD:0001083 https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome owl:Class MONDO:0012518 biolink:NamedThing congenital myasthenic syndrome 12 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene. tmpte7i6ely_mondo_relaxed.owl myasthenic syndrome, congenital, type 12|GFPT1 congenital myasthenic syndromes with glycosylation defect|myasthenic syndrome, congenital, with tubular aggregates 1|congenital myasthenia 12 with tubular aggregates|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|myasthenic syndrome, congenital, 12|CMS12|congenital myasthenic syndrome type 12 Orphanet:353327|OMIM:610542|Orphanet:590|DOID:0110660 owl:Class NCBITaxon:1489843 biolink:NamedThing Gadariae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0010454 biolink:NamedThing negative regulation of cell fate commitment Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016054 biolink:NamedThing organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. tmpte7i6ely_mondo_relaxed.owl organic acid degradation|organic acid breakdown|organic acid catabolism owl:Class MONDO:0011880 biolink:NamedThing candidiasis, familial, 3 tmpte7i6ely_mondo_relaxed.owl CANDF3|candidiasis, familial, 3|candidiasis, familial chronic nail, with Icam1 deficiency|Fcnc OMIM:607644|UMLS:C1843306|MESH:C564361 owl:Class MONDO:0001525 biolink:NamedThing thyrocalcitonin secretion disease tmpte7i6ely_mondo_relaxed.owl disorder of thyrocalcitonin secretion SCTID:190303007|DOID:12424|ICD9:246.0|UMLS:C0701822 owl:Class MONDO:0019895 biolink:NamedThing distal monosomy 4q tmpte7i6ely_mondo_relaxed.owl monosomy 4qter|telomeric deletion 4q|distal deletion 4q|distal monosomy type 4q Orphanet:96145|ICD10:Q93.5 owl:Class MONDO:0009681 biolink:NamedThing Ullrich congenital muscular dystrophy 1 tmpte7i6ely_mondo_relaxed.owl Ullrich congenital muscular dystrophy 1|Ullrich congenital muscular dystrophy|Ullrich Scleroatonic muscular dystrophy|UCMD1|Ullrich disease|Ullrich congenital muscular dystrophy type 1|muscular dystrophy, Scleroatonic OMIM:254090|UMLS:CN033863 owl:Class MONDO:0025690 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 2 tmpte7i6ely_mondo_relaxed.owl MEDS2 OMIM:619278 owl:Class MONDO:0030870 biolink:NamedThing premature ovarian failure 17 tmpte7i6ely_mondo_relaxed.owl POF17|premature ovarian failure 17 OMIM:619146 owl:Class MONDO:0000597 biolink:NamedThing Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. tmpte7i6ely_mondo_relaxed.owl Munchausen by proxy syndrome|Munchausen syndrome by proxy GARD:0007117|DOID:0060045|SCTID:95637005|MESH:D016735 https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome owl:Class MONDO:0100128 biolink:NamedThing coinfection The simultaneous infection of a host by multiple pathogen species. tmpte7i6ely_mondo_relaxed.owl UMLS:C0275524 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020463 biolink:NamedThing isolated congenital ectropion A congenital ectropion that is not part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl nonsyndromic congenital ectropion ICD10:Q10.1|Orphanet:99171 owl:Class MONDO:0009405 biolink:NamedThing cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy|cervical hypertrichosis peripheral neuropathy UMLS:C1855902|OMIM:239840|Orphanet:2218|GARD:0001226|MESH:C565492|UMLS:C2931676 https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy owl:Class GO:0006541 biolink:NamedThing glutamine metabolic process The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. tmpte7i6ely_mondo_relaxed.owl glutamine metabolism owl:Class MONDO:0000541 biolink:NamedThing jejunal adenocarcinoma A adenocarcinoma that involves the jejunum. tmpte7i6ely_mondo_relaxed.owl jejunum adenocarcinoma|jejunal adenocarcinoma|jejunal adenocarcinoma (disease) jejunal adenocarcinoma (disease) HP:0030411|UMLS:C4072935|DOID:0050926 owl:Class MONDO:0020413 biolink:NamedThing encircling double aortic arch Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations. tmpte7i6ely_mondo_relaxed.owl ICD10:Q25.4|SCTID:764521002|Orphanet:99075 owl:Class MONDO:0032781 biolink:NamedThing congenital hypotonia, epilepsy, developmental delay, and digital anomalies tmpte7i6ely_mondo_relaxed.owl CHEDDA|CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM:618494 owl:Class MONDO:0001984 biolink:NamedThing candidal paronychia A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. tmpte7i6ely_mondo_relaxed.owl candidiasis of skin|candidiasis of skin and nails ICD9:112.3|ICD10:B37.2|SCTID:187014000|UMLS:C1282977|UMLS:C0006842|DOID:14512 owl:Class MONDO:0030994 biolink:NamedThing neurodevelopmental disorder with or without autism or seizures tmpte7i6ely_mondo_relaxed.owl NEDAUS|neurodevelopmental disorder with or without autism or seizures OMIM:619239 owl:Class MONDO:0013094 biolink:NamedThing glioma susceptibility 5 tmpte7i6ely_mondo_relaxed.owl glioma susceptibility 5|GLM5 Orphanet:182067|OMIM:613030 owl:Class UBERON:0016502 biolink:NamedThing stomach fundus lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007277 biolink:NamedThing cataract-aberrant oral frenula-growth delay syndrome Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl cataract, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|Wellesley Carmen French syndrome|cataracts, aberrant oral frenula, and growth retardation OMIM:115645|SCTID:715988005|ICD10:Q87.8|MESH:C536691|Orphanet:1373|GARD:0005554 owl:Class MONDO:0011617 biolink:NamedThing arthropathy, erosive tmpte7i6ely_mondo_relaxed.owl arthropathy, erosive MESH:C565273|UMLS:C1853829|OMIM:605935 owl:Class MONDO:0030518 biolink:NamedThing trichothiodystrophy 9, nonphotosensitive tmpte7i6ely_mondo_relaxed.owl TTD9 OMIM:619692 owl:Class MONDO:0004367 biolink:NamedThing petroclival meningioma A meningioma that affects the petroclival region. tmpte7i6ely_mondo_relaxed.owl DOID:7818|UMLS:C1335395|NCIT:C5278 owl:Class MONDO:0011173 biolink:NamedThing thrombocythemia 2 Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene. tmpte7i6ely_mondo_relaxed.owl thrombocythemia 2|thrombocythemia type 2|THCYT2|familial thrombocytosis caused by mutation in MPL|MPL familial thrombocytosis Orphanet:71493|OMIM:601977|Orphanet:3318|UMLS:C3275998 https://github.com/monarch-initiative/mondo/issues/230 owl:Class HGNC:11098 biolink:NamedThing SMARCA2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:14103 biolink:NamedThing ARHGEF10 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2638 biolink:NamedThing CYP3A5 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:121222 biolink:NamedThing Pediculus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008624 biolink:NamedThing Upington disease Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Upington disease|hip dysplasia-enchondromata-ecchondroma syndrome|familial dyschondroplasia|Perthes-like hip disease, enchondromata, and Ecchondromata SCTID:719041000|Orphanet:3408|GARD:0005421|UMLS:C1860596|OMIM:191520|MESH:C536472|ICD10:M91.8 https://rarediseases.info.nih.gov/diseases/5421/upington-disease owl:Class HGNC:6317 biolink:NamedThing KIF1C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000534 biolink:NamedThing trachea mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the trachea. tmpte7i6ely_mondo_relaxed.owl trachea mucoepidermoid carcinoma SCTID:707379000|UMLS:C3873401|DOID:0050919 owl:Class MONDO:0015732 biolink:NamedThing intermediate anorectal malformation Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. tmpte7i6ely_mondo_relaxed.owl SCTID:734024009|Orphanet:171208|ICD10:Q42.0|ICD10:Q42.1 owl:Class MONDO:0017506 biolink:NamedThing congenital absence/hypoplasia of thumb, unilateral Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. tmpte7i6ely_mondo_relaxed.owl thumb hypodactyly, unilateral|thumb oligodactyly, unilateral ICD10:Q71.3|Orphanet:295110 owl:Class MONDO:0032879 biolink:NamedThing megabladder, congenital tmpte7i6ely_mondo_relaxed.owl MEGABLADDER, CONGENITAL|MGBL OMIM:618719 owl:Class MONDO:0002044 biolink:NamedThing spastic ectropion tmpte7i6ely_mondo_relaxed.owl DOID:1571|ICD9:374.13|SCTID:80846000|UMLS:C0155195 owl:Class MONDO:0100245 biolink:NamedThing acquired paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. tmpte7i6ely_mondo_relaxed.owl paroxysmal hemoglobinuria|PNH|Marchiafava-Micheli disease 2022-04-01 UMLS:C0019050|UMLS:C0024790|DOID:0060284|HGNC:8957|ICD10:D59.6|ICD10:D59.5|MedDRA:10034042|ICD10:D59.1|NCIT:C61233|SCTID:1963002|Orphanet:447|GARD:0007337 Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'. http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria owl:Class UBERON:0006531 biolink:NamedThing oculomotor muscle tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060348 biolink:NamedThing bone development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008035 biolink:NamedThing muscular hypoplasia, congenital universal, of Krabbe tmpte7i6ely_mondo_relaxed.owl muscular hypoplasia, congenital universal, of Krabbe UMLS:C1834651|OMIM:159100|MESH:C563553 owl:Class MONDO:0019103 biolink:NamedThing benign exophthalmos syndrome Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. tmpte7i6ely_mondo_relaxed.owl bes SCTID:719519007|ICD10:H05.2|UMLS:C4304668|Orphanet:71269 owl:Class MONDO:0020356 biolink:NamedThing coloboma of iris A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. tmpte7i6ely_mondo_relaxed.owl coloboma of iris (disease)|coloboma of iris|coloboma of the iris coloboma of iris (disease) SCTID:9446007|HP:0000612|OMIM:120200|NCIT:C98879|Orphanet:98944|MedDRA:10052642|ICD10:Q13.0|GARD:0001434 owl:Class UBERON:0007270 biolink:NamedThing pelvic appendage musculature tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009136 biolink:NamedThing dyskeratosis congenita, autosomal recessive 1 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14. tmpte7i6ely_mondo_relaxed.owl autosomal recessive dyskeratosis congenita|DKCB|dyskeratosis congenita, autosomal recessive type 1|dyskeratosis congenita autosomal recessive|DKCB1|dyskeratosis congenita, autosomal recessive 1|autosomal recessive dyskeratosis congenita 1 MESH:C565611|SCTID:707272006|Orphanet:1775|GARD:0006300|UMLS:C1857144|OMIM:224230|DOID:0070015 https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive owl:Class MONDO:0004037 biolink:NamedThing retinal edema tmpte7i6ely_mondo_relaxed.owl ICD10:H35.81|DOID:6929|SCTID:6141006|ICD9:362.83|MESH:D010211 owl:Class HP:0000083 biolink:NamedThing Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. tmpte7i6ely_mondo_relaxed.owl Renal failure|Renal failure in adulthood SNOMEDCT_US:236423003|SNOMEDCT_US:42399005|UMLS:C1565489|MSH:D051437|UMLS:C0035078|UMLS:C1839604 HP:0004723|HP:0000084 human_phenotype owl:Class MONDO:0004717 biolink:NamedThing peliosis hepatis A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs. tmpte7i6ely_mondo_relaxed.owl hepatic peliosis EFO:1001387|DOID:914|ICD10:K76.4|SCTID:58008004|MESH:D010382|UMLS:C0030781 owl:Class MONDO:0022700 biolink:NamedThing cerebral palsy spastic monoplegic tmpte7i6ely_mondo_relaxed.owl spastic monoplegic cerebral palsy|spastic monoplegia cerebral palsy GARD:0010446 https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic owl:Class MONDO:0008469 biolink:NamedThing spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. tmpte7i6ely_mondo_relaxed.owl Whyte syndrome|Whyte Petersen McAlister syndrome|spondyloepimetaphyseal dysplasia with hypotrichosis MESH:C535783|ICD10:Q77.7|UMLS:C1866728|Orphanet:168443|GARD:0010101|OMIM:183849 owl:Class MONDO:0017113 biolink:NamedThing isolated bilateral hemispheric cerebellar hypoplasia Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. tmpte7i6ely_mondo_relaxed.owl Orphanet:269221|ICD10:Q04.3 owl:Class MONDO:0020131 biolink:NamedThing malformation of the cerebellar hemispheres tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|Orphanet:98516 owl:Class HGNC:28163 biolink:NamedThing CCDC28B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003245 biolink:NamedThing aflatoxin-related hepatocellular carcinoma A hepatocellular carcinoma that develops following exposure to aflatoxin. tmpte7i6ely_mondo_relaxed.owl aflatoxins-related hepatocellular carcinoma|aflatoxins-related hepatocellular cancer NCIT:C27922|UMLS:C1332222|DOID:5022 owl:Class GO:1901663 biolink:NamedThing quinone biosynthetic process The chemical reactions and pathways resulting in the formation of quinone. tmpte7i6ely_mondo_relaxed.owl quinone cofactor formation|quinone formation|quinone synthesis|quinone cofactor synthesis|quinone biosynthesis|quinone cofactor anabolism|quinone cofactor biosynthesis|quinone cofactor biosynthetic process|quinone anabolism owl:Class MONDO:0019606 biolink:NamedThing simple cryoglobulinemia Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. tmpte7i6ely_mondo_relaxed.owl cryoglobulinemia type 1 ICD10:D89.1|UMLS:C4510006|Orphanet:91139|UMLS:CN206459|SCTID:723674005 owl:Class UBERON:0016511 biolink:NamedThing lamina propria of fundus of stomach tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017600 biolink:NamedThing hairy cell leukemia variant Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C). tmpte7i6ely_mondo_relaxed.owl hairy cell leukaemia variant|leukemic reticuloendotheliosis variant|prolymphocytic variant of HCL|prolymphocytic variant of hairy cell leukemia|HCL-V|HCL-v|hairy cell leukemia variant DOID:713|ICD10:C91.4|MedDRA:10019054|ICDO:9591/3|Orphanet:300878|SCTID:277568007|UMLS:C0349633|NCIT:C7401 owl:Class IAO:0000225 biolink:NamedThing obsolescence reason specification The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. tmpte7i6ely_mondo_relaxed.owl The creation of this class has been inspired in part by Werner Ceusters' paper, Applying evolutionary terminology auditing to the Gene Ontology. obsolescence reason specification PERSON: Melanie Courtot|PERSON: Alan Ruttenberg owl:Class MONDO:0015665 biolink:NamedThing scleromyxedema Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. tmpte7i6ely_mondo_relaxed.owl generalized lichenoid papular eruption|generalized papular and sclerodermoid|Scleromyxedema|myxedematosus, lichen|generalized papular and sclerodermoid lichen myxedematosus|scleromyxoedema|lichen myxedematosus|Arndt-Gottron disease|mucinosis, papular|papular mucinosis MESH:D053718|Orphanet:167635|GARD:0007615|ICD10:L98.5|NCIT:C85061|SCTID:402468007|ICD9:701.8|UMLS:C0263390|UMLS:CN200092|MedDRA:10055046 https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema owl:Class MONDO:0007025 biolink:NamedThing chancre The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection. tmpte7i6ely_mondo_relaxed.owl EFO:1001247|MESH:D002601 owl:Class UBERON:0003542 biolink:NamedThing right lung respiratory bronchiole tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006795 biolink:NamedThing hypersplenism Overactive functioning of the spleen, resulting in excessive destruction of blood cells. tmpte7i6ely_mondo_relaxed.owl hypersplenia|hypersplenism|hypersplenism (disease) hypersplenism (disease) HP:0001971|SCTID:58381000|EFO:1000975|MESH:D006971|MedDRA:10020769|NCIT:C34714|ICD9:289.4|ICD10:D73.1|DOID:6376|UMLS:C0020532 owl:Class HGNC:3942 biolink:NamedThing MTOR tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6414 biolink:NamedThing KRT12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004541 biolink:NamedThing pseudoglandular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. tmpte7i6ely_mondo_relaxed.owl testicular seminoma, pseudoglandular variant DOID:8358|NCIT:C40958|UMLS:C1515293 owl:Class MONDO:0006919 biolink:NamedThing potassium deficiency A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed) tmpte7i6ely_mondo_relaxed.owl MESH:D011191|MedDRA:10036445|EFO:1001120 owl:Class MONDO:0043723 biolink:NamedThing Monteggia's fracture Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius. tmpte7i6ely_mondo_relaxed.owl Monteggia fracture|Monteggias fracture|fracture, Monteggia's|monteggia fracture dislocation|monteggia's fracture|monteggia fracture|monteggia's dislocation EFO:1001373|SCTID:123973009|MESH:D009011 owl:Class MONDO:0004530 biolink:NamedThing early invasive cervical adenocarcinoma A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent. tmpte7i6ely_mondo_relaxed.owl cervical microinvasive adenocarcinoma NCIT:C36096|UMLS:C1333369|DOID:8307 owl:Class MONDO:0003637 biolink:NamedThing clear cell-sugar-tumor of the lung A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative. tmpte7i6ely_mondo_relaxed.owl Sugar tumor|CCSTL|clear cell-Sugar-tumor of the lung|lung clear cell tumor|lung clear cell-sugar-tumor|clear cell-Sugar-tumor of lung UMLS:C1333065|DOID:5763|NCIT:C38152 owl:Class HGNC:465 biolink:NamedThing AMHR2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008920 biolink:NamedThing carnitine deficiency, myopathic tmpte7i6ely_mondo_relaxed.owl myopathic carnitine deficiency|carnitine deficiency, myopathic OMIM:212160|GARD:0006616|UMLS:C1859318|MESH:C536100 https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency owl:Class MONDO:0002885 biolink:NamedThing erythrasma A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. tmpte7i6ely_mondo_relaxed.owl infection due to Corynebacterium minutissimum EFO:1000696|DOID:4131|MESH:D004894|SCTID:264207005|ICD9:041.85|UMLS:C2364003|ICD10:L08.1|UMLS:C0014752 owl:Class HGNC:12305 biolink:NamedThing TRIP11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019455 biolink:NamedThing acute panmyelosis with myelofibrosis An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis. tmpte7i6ely_mondo_relaxed.owl acute myelofibrosis|APMF|acute (malignant) myelosclerosis|acute (malignant) myelofibrosis|acute myelosclerosis|acute myelodysplasia with myelofibrosis|acute panmyelosis ICD10:C94.4|NCIT:C4344|ICD9:289.89|UMLS:C0334674|ONCOTREE:APMF|Orphanet:86843|MedDRA:10000879|GARD:0011907|ICDO:9931/3|SCTID:109991003 https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis owl:Class MONDO:0032789 biolink:NamedThing intellectual developmental disorder, autosomal recessive 71 tmpte7i6ely_mondo_relaxed.owl MRT71|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71|Mental Retardation, Autosomal Recessive 71 OMIM:618504 owl:Class MONDO:0010689 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 4 X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. tmpte7i6ely_mondo_relaxed.owl axonal motor sensory neuropathy with deafness and mental retardation|neuropathy, axonal motor-sensory with deafness and intellectual disability|neuropathy, axonal motor-sensory, with deafness and mental retardation|COWCK|CMTX4|neuropathy, axonal motor-sensory, with deafness and intellectual disability|Charcot-Marie-Tooth disease X-linked recessive type 4|NAMSD|CMTX 4|Charcot-Marie-Tooth disease, X-linked recessive, 4|X-linked Charcot-Marie-Tooth disease type 4|NADMR|CMT4X|axonal motor sensory neuropathy with deafness and intellectual disability|cowchock syndrome|Charcot-Marie-Tooth disease with deafness and mental retardation|Charcot-Marie-Tooth disease with deafness and intellectual disability|neuropathy, axonal motor-sensory with deafness and mental retardation ICD10:G60.0|GARD:0001240|OMIM:310490|SCTID:763400005|Orphanet:101078|DOID:0110212 owl:Class MONDO:0013534 biolink:NamedThing apolipoprotein c-III deficiency tmpte7i6ely_mondo_relaxed.owl apolipoprotein c-III deficiency|hyperalphalipoproteinemia 2 OMIM:614028|UMLS:C3151467|DOID:0111370|MESH:C566270|Orphanet:79506 owl:Class MONDO:0001345 biolink:NamedThing antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. tmpte7i6ely_mondo_relaxed.owl DOID:11718|ICD9:305.8 owl:Class MONDO:0008255 biolink:NamedThing platelet factor 3 deficiency tmpte7i6ely_mondo_relaxed.owl platelet factor 3 deficiency UMLS:C1868256|MESH:C566798|OMIM:173450 owl:Class MONDO:0013106 biolink:NamedThing basal cell carcinoma, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl BCC6|basal cell carcinoma, susceptibility to, 6 OMIM:613063|UMLS:C2751600 owl:Class MONDO:0030847 biolink:NamedThing arthrogryposis, distal, type 1C tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, type 1C|DA1C OMIM:619110 owl:Class HGNC:11115 biolink:NamedThing KDM5D tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0001320 biolink:NamedThing Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum. tmpte7i6ely_mondo_relaxed.owl Cerebellar vermal hypoplasia|Hypoplastic cerebellar vermis|Hypoplasia of the cerebellar vermis UMLS:C1840379 human_phenotype owl:Class MONDO:0006172 biolink:NamedThing conjunctival nevus A benign melanocytic neoplasm that arises from the conjunctiva. tmpte7i6ely_mondo_relaxed.owl Nevus of conjunctiva|conjunctival nevus|Nevus of the conjunctiva EFO:1000205|NCIT:C4551|DOID:0050906|UMLS:C0346363|SCTID:255006004 owl:Class MONDO:0012131 biolink:NamedThing metaphyseal undermodeling, spondylar dysplasia, and overgrowth tmpte7i6ely_mondo_relaxed.owl overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome|metaphyseal undermodeling, spondylar dysplasia, and overgrowth MESH:C537355|UMLS:C1837316|OMIM:608811|GARD:0010066|Orphanet:498485 https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth owl:Class NCIT:C16149 biolink:NamedThing Progesterone Receptor Status tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043154 biolink:NamedThing neonatal ovarian cyst tmpte7i6ely_mondo_relaxed.owl fetal ovarian cyst GARD:0003934|UMLS:C2931186|MESH:C536396 owl:Class MONDO:0007221 biolink:NamedThing brachydactyly type C tmpte7i6ely_mondo_relaxed.owl brachydactyly type C|brachydactyly Haws type|brachydactyly, Haws type|brachydactyly, type C DOID:0110970|Orphanet:93384|GARD:0000986|ICD10:Q73.8|UMLS:C1862103|MESH:C537093|OMIM:113100 owl:Class MONDO:0044350 biolink:NamedThing hyperparathyroidism, primary, caused by water clear cell hyperplasia tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism, primary, caused by water clear cell hyperplasia OMIM:600166|Orphanet:99878|MESH:C563982 owl:Class HP:0003584 biolink:NamedThing Late onset A type of adult onset with onset of symptoms after the age of 60 years. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025592 human_phenotype owl:Class MONDO:0014697 biolink:NamedThing immunodeficiency, common variable, 12 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene. tmpte7i6ely_mondo_relaxed.owl CVID12|NFKB1 deficiency|immunodeficiency, common variable, type 12|common variable immunodeficiency caused by mutation in NFKB1|NFKB1 common variable immunodeficiency|immunodeficiency, common variable, 12 OMIM:616576|UMLS:C4225277 owl:Class MONDO:0007038 biolink:NamedThing Achoo syndrome tmpte7i6ely_mondo_relaxed.owl photic sneeze reflex|Peroutka sneeze|autosomal dominant compelling helio ophthalmic outburst syndrome|autosomal dominant compelling Helioophthalmic outburst syndrome|Achoo syndrome|sneezing from Light exposure MESH:C535300|GARD:0010036|UMLS:C1863416|OMIM:100820|EFO:0007887 owl:Class MONDO:0012023 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 49 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 49|autosomal dominant nonsyndromic deafness 49|autosomal dominant deafness 49|deafness, autosomal dominant 49|DFNA49 DOID:0110572|MESH:C564250|OMIM:608372|UMLS:C1842136|ICD10:H90.3 owl:Class UBERON:0004869 biolink:NamedThing parietal organ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054602 biolink:NamedThing gaze palsy, familial horizontal, with progressive scoliosis, 2 tmpte7i6ely_mondo_relaxed.owl gaze palsy, familial horizontal, with progressive scoliosis, 2|HGPPS2 OMIM:617542|UMLS:C4479640 owl:Class GO:0003071 biolink:NamedThing renal system process involved in regulation of systemic arterial blood pressure Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpte7i6ely_mondo_relaxed.owl renal control of blood pressure|renal regulation of systemic arterial blood pressure owl:Class MONDO:0019161 biolink:NamedThing pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. tmpte7i6ely_mondo_relaxed.owl pseudohypoaldosteronism type I autosomal recessive|PHA type 1|PHA1B OMIM:264350|ICD9:275.8|SCTID:43941006|OMIM:177735|NCIT:C123251|Orphanet:756|UMLS:C0268436|ICD10:N25.8|MESH:D011546 owl:Class HP:0005607 biolink:NamedThing Abnormal tracheobronchial morphology tmpte7i6ely_mondo_relaxed.owl Tracheobronchial anomalies UMLS:C4021631|Fyler:4232 peter 2008-03-28T09:03:00Z HP:0005940 human_phenotype owl:Class MONDO:0004008 biolink:NamedThing flat ductal epithelial atypia A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia. tmpte7i6ely_mondo_relaxed.owl flat epithelial atypia|flat ductal epithelial atypia|clinging carcinoma|flat ductal epithelial atypia of the breast|ductal intraepithelial neoplasia, grade 1A|DIN 1A|FEA|flat epithelial atypia of the breast UMLS:C1333620|NCIT:C36086|DOID:6841 owl:Class UBERON:0005630 biolink:NamedThing fetal membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019509 biolink:NamedThing cutaneous leukocytoclastic angiitis Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. tmpte7i6ely_mondo_relaxed.owl cutaneous small vessel vasculitis|cutaneous hypersensitivity vasculitis|hypersensitivity angiitis|cutaneous small-vessel vasculitis|cutaneous leukocytoclastic vasculitis|leukocytoclastic angiitis ICD10:M31.0|Orphanet:889|NCIT:C122919|GARD:0007851|SCTID:718217000 owl:Class MONDO:0022820 biolink:NamedThing congenital articular rigidity tmpte7i6ely_mondo_relaxed.owl GARD:0001473 https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity owl:Class MONDO:0001272 biolink:NamedThing functional diarrhea tmpte7i6ely_mondo_relaxed.owl DOID:11371|ICD9:564.5|UMLS:C0156173|SCTID:47812002|ICD10:K59.1 owl:Class CL:2000080 biolink:NamedThing mesenchymal stem cell of abdominal adipose Any mesenchymal stem cell of adipose that is part of a abdomen. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-12-02T19:10:34Z cell owl:Class MONDO:0043156 biolink:NamedThing nephrotic syndrome ocular anomalies tmpte7i6ely_mondo_relaxed.owl familial infantile nephrotic syndrome with ocular abnormalities|Glastre Cochat Bouvier syndrome GARD:0003945|UMLS:C2931188|MESH:C536403 owl:Class NCBITaxon:2732507 biolink:NamedThing Stelpaviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022096 biolink:NamedThing pyogenic granuloma A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. tmpte7i6ely_mondo_relaxed.owl hemangioma, Lobular Capillary|Granuloma Pyogenicum|angiogranulomas|Lobular Capillary Hemangioma|angiogranuloma|Granuloma telangiectaticum|PG - Pyogenic granuloma|hemangiomatous Granulation Tissue|Pyogenic Granuloma|Granuloma Telangiecticum|Granulomata Pyogenicum|Granuloma, Pyogenic|Capillary Hemangioma, Lobular|Lobular capillary hemangioma|Capillary hemangioma of granulation tissue type|Granuloma pyogenicum|Pyogenic granuloma|Lobular Hemangioma|Granulation Tissue-Type Hemangioma GARD:0010963|MESH:D017789|SCTID:200722003|UMLS:C0085653 owl:Class MONDO:0006428 biolink:NamedThing splenic diffuse large B-cell lymphoma A diffuse large B-cell lymphoma occurring in the spleen. tmpte7i6ely_mondo_relaxed.owl splenic diffuse large B-cell lymphoma|primary splenic diffuse large B-cell lymphoma UMLS:C2018774|EFO:1000547|NCIT:C7308 owl:Class MONDO:0008487 biolink:NamedThing polycystic ovary syndrome A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. tmpte7i6ely_mondo_relaxed.owl PCO1|polycystic ovaries|Stein-Leventhal syndrome|polycystic ovary syndrome|Stein-Leventhal synd.|PCOS1|hyperandrogenemia|multicystic ovaries|PCOS|polycystic ovary syndrome 1|polycystic ovary|polycystic ovarian disease OMIM:184700|Orphanet:3185|ICD10:E28.2|SCTID:69878008|DOID:11612|MESH:D011085|UMLS:C0032460|ICD9:256.4|EFO:0000660|NCIT:C26862 owl:Class MONDO:0006159 biolink:NamedThing colorectal gastrointestinal stromal tumor A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl colorectal gastrointestinal stromal tumor|colorectal gastrointestinal stromal tumor (gist)|colorectal (colon or rectal) gastrointestinal stromal tumor (gist)|colorectal gist EFO:1000192|UMLS:C1333109|NCIT:C27735 owl:Class HGNC:24502 biolink:NamedThing WDR62 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010889 biolink:NamedThing arterial dissection-lentiginosis syndrome Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). tmpte7i6ely_mondo_relaxed.owl arterial dissection with lentiginosis Orphanet:1682|ICD10:Q87.8|UMLS:C1838122|OMIM:600459|MESH:C563937 owl:Class MONDO:0024471 biolink:NamedThing non-inflammatory vasculopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:496924 owl:Class MONDO:0001281 biolink:NamedThing alternating exotropia A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. tmpte7i6ely_mondo_relaxed.owl SCTID:37214009|DOID:1142|ICD10:H50.15|MESH:D005099|ICD9:378.15|UMLS:C0152207 owl:Class MONDO:0008669 biolink:NamedThing vulvovaginitis, allergic seminal tmpte7i6ely_mondo_relaxed.owl vulvovaginitis, allergic seminal UMLS:C1860357|MESH:C565993|OMIM:193450 owl:Class NCBITaxon:44556 biolink:NamedThing Phlebotomus tmpte7i6ely_mondo_relaxed.owl Phlebotomus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:13203 biolink:NamedThing Phlebotomus tmpte7i6ely_mondo_relaxed.owl Phlebotomus GC_ID:1|PMID:9835021 ncbi_taxonomy owl:Class MONDO:0001681 biolink:NamedThing diphtheritic cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. tmpte7i6ely_mondo_relaxed.owl ICD10:A36.85|SCTID:48278001|DOID:13306|ICD9:032.84|UMLS:C0152954 owl:Class MONDO:0003658 biolink:NamedThing B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|Gray zone lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|large B-cell lymphoma with Hodgkin features|Hodgkin-like anaplastic large cell lymphoma DOID:5822|GARD:0010897|ICDO:9596/3|UMLS:C1333878|NCIT:C37869 https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma owl:Class CHEBI:30411 biolink:NamedThing cobalamin A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. tmpte7i6ely_mondo_relaxed.owl COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide|cobalamin owl:Class CHEBI:36343 biolink:NamedThing composite particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). tmpte7i6ely_mondo_relaxed.owl composite particles owl:Class MONDO:0032624 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 19 tmpte7i6ely_mondo_relaxed.owl MC1DN19|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 OMIM:618241 owl:Class MONDO:0030981 biolink:NamedThing immunodeficiency 79 tmpte7i6ely_mondo_relaxed.owl IMD79|CD4 Deficiency|immunodeficiency 79 OMIM:619238 owl:Class HGNC:3012 biolink:NamedThing DPYD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022620 biolink:NamedThing CD4 deficiency tmpte7i6ely_mondo_relaxed.owl GARD:0009523 https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency owl:Class HGNC:1068 biolink:NamedThing BMP15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024525 biolink:NamedThing Fanconi renotubular syndrome 1 tmpte7i6ely_mondo_relaxed.owl Fanconi syndrome without cystinosis|Fanconi renotubular syndrome|Fanconi renotubular syndrome 1|adult Fanconi syndrome|Luder-Sheldon syndrome|DeToni-Debré-Fanconi syndrome|primary Fanconi renotubular syndrome|renal Fanconi syndrome|primary Fanconi renal syndrome|FRTS1 OMIM:134600|Orphanet:3337 owl:Class MONDO:0016638 biolink:NamedThing familial hypodysfibrinogenemia tmpte7i6ely_mondo_relaxed.owl ICD10:D68.2|Orphanet:248408|OMIM:616004|UMLS:CN201839 owl:Class MONDO:0030105 biolink:NamedThing galactosemia 4 tmpte7i6ely_mondo_relaxed.owl galactosemia iv|GALAC4|Galactose Mutarotase Deficiency|GALACTOSEMIA IV OMIM:618881|Orphanet:570422 owl:Class MONDO:0010352 biolink:NamedThing intellectual disability, X-linked 82 tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked 82|MRX82|mental retardation, X-linked 82 OMIM:300518|Orphanet:777|UMLS:C1845286|MESH:C564496 owl:Class SO:0000483 biolink:NamedThing nc_primary_transcript A primary transcript that is never translated into a protein. tmpte7i6ely_mondo_relaxed.owl nc primary transcript|noncoding primary transcript owl:Class MONDO:0020316 biolink:NamedThing acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy. tmpte7i6ely_mondo_relaxed.owl acute myelomonocytic leukemia|AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)|CBFB-MYH11 GARD:0000536|Orphanet:98829|ICD10:C92.5 https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22 owl:Class HP:0001787 biolink:NamedThing Abnormal delivery An abnormality of the birth process. tmpte7i6ely_mondo_relaxed.owl Abnormal delivery|Delivery complication UMLS:C0549629|SNOMEDCT_US:274127000 human_phenotype owl:Class HGNC:3858 biolink:NamedThing FRA16B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011183 biolink:NamedThing Paget disease of bone 2, early-onset tmpte7i6ely_mondo_relaxed.owl Paget disease of bone 2, early-onset|PDB2 UMLS:C0029401|UMLS:C4085251|OMIM:602080 owl:Class UBERON:0011971 biolink:NamedThing calcaneofibular ligament tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009718 biolink:NamedThing myxedema A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. tmpte7i6ely_mondo_relaxed.owl myxedema EFO:1001055|SCTID:43153006|ICD10:E03.9|MedDRA:10028663|UMLS:C0027145|MESH:D009230|OMIM:255900|NCIT:C34834|DOID:11634 Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. owl:Class MONDO:0011463 biolink:NamedThing polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. tmpte7i6ely_mondo_relaxed.owl polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive OMIM:604431|Orphanet:538096|MESH:C565773|UMLS:C1858353 owl:Class MONDO:0032788 biolink:NamedThing cerebellar atrophy with seizures and variable developmental delay tmpte7i6ely_mondo_relaxed.owl CASVDD|CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM:618501 owl:Class MONDO:0022556 biolink:NamedThing oculo-cerebral dysplasia tmpte7i6ely_mondo_relaxed.owl Behrens-Baumann-Vogel syndrome|Behrens Baumann dust syndrome|unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|microphthalmia-optic nerve dysplasia 2022-05-01 GARD:0004021 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia owl:Class CHEBI:48706 biolink:NamedThing antagonist Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances. tmpte7i6ely_mondo_relaxed.owl antagonists|antagoniste|antagonista|antagonist owl:Class UBERON:0005411 biolink:NamedThing bony otic capsule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008524 biolink:NamedThing syringomas, multiple tmpte7i6ely_mondo_relaxed.owl syringomas, multiple MESH:C566085|OMIM:186600|UMLS:C1861302 owl:Class UBERON:0010188 biolink:NamedThing protuberance tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000335 biolink:NamedThing mesenchyme condensation cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0009070 biolink:NamedThing D-glyceric aciduria A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. tmpte7i6ely_mondo_relaxed.owl glycerate kinase deficiency|D-glycericacidemia|D-glyceric acidemia|d-glyceric aciduria|D-glycerate kinase deficiency|non ketotic hyperglycinemia syndrome ICD10:E74.8|GARD:0000234|SCTID:237980004|UMLS:C1291386|Orphanet:941|DOID:0111626|MESH:C535767|NCIT:C128804|OMIM:220120|UMLS:C0342765 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0002976 biolink:NamedThing stomach diverticulosis A pathological condition characterized by the presence of a number of gastric diverticula in the stomach. tmpte7i6ely_mondo_relaxed.owl DOID:4370|MESH:D045724|UMLS:C1148546 owl:Class HGNC:12428 biolink:NamedThing TWIST1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015177 biolink:NamedThing metaphyseal anadysplasia Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. tmpte7i6ely_mondo_relaxed.owl MAD|Maroteaux-Verloes-Stanescu syndrome|early-onset regressive form of metaphyseal dysplasia|regressive metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome OMIM:602111|UMLS:C0432226|SCTID:254085009|Orphanet:1040|ICD10:Q78.5|OMIM:613073|ICD9:756.9|MESH:C537351|GARD:0003562 https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia owl:Class MONDO:0023042 biolink:NamedThing ectodermal dysplasia margarita type tmpte7i6ely_mondo_relaxed.owl GARD:0002050 https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type owl:Class MONDO:0016762 biolink:NamedThing microcornea-corectopia-macular hypoplasia syndrome Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. tmpte7i6ely_mondo_relaxed.owl microcornea corectopia macular hypoplasia MESH:C537551|Orphanet:2535|GARD:0003636|UMLS:C2931531|ICD10:Q15.8 owl:Class MONDO:0012210 biolink:NamedThing migraine with aura, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl migraine with aura, susceptibility to, 7|migraine with aura, susceptibility to, type 7|Mgr7 OMIM:609179|UMLS:C1836670 owl:Class MONDO:0043370 biolink:NamedThing secondary adrenal insufficiency A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. tmpte7i6ely_mondo_relaxed.owl secondary hypocortisolism|secondary adrenocortical insufficiency|hypocortisolism secondary to another disorder|central adrenal insufficiency|secondary adrenal insufficiency|central Hypoadrenalism UMLS:C0948387|GARD:0012735|UMLS:C0271738|NCIT:C62602|SCTID:16685009 owl:Class NCBITaxon:2732532 biolink:NamedThing Sepolyvirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003051 biolink:NamedThing non specific chronic endometritis Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present. tmpte7i6ely_mondo_relaxed.owl non specific chronic endometritis UMLS:C1335061|NCIT:C27625|DOID:4560 owl:Class MONDO:0002939 biolink:NamedThing skin pigmented basal cell carcinoma A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002. tmpte7i6ely_mondo_relaxed.owl skin pigmented basal cell carcinoma|pigmented basal cell carcinoma UMLS:C1368275|NCIT:C9359|SCTID:403909004|DOID:4282 owl:Class MONDO:0018434 biolink:NamedThing acute myeloid leukemia with t(9;11)(p22;q23) tmpte7i6ely_mondo_relaxed.owl AML with t(9;11)(p22;q23) ICD10:C92.0|Orphanet:402017 owl:Class MONDO:0013128 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 2 Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). tmpte7i6ely_mondo_relaxed.owl early-onset hyperuricemia, Anemia, and progressive kidney failure|REN-associated kidney disease|hyperuricemic nephropathy, familial juvenile, 2|hyperuricemic nephropathy, familial juvenile, type 2|REN-associated familial juvenile hyperuricemic nephropathy|familial juvenile hyperuricemic nephropathy type 2|FJHN type 2|ADTKD-REN|REN-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in REN|HNFJ2|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|REN-associated FJHN|REN familial juvenile hyperuricemic nephropathy GARD:0013461|SCTID:721840000|Orphanet:217330|OMIM:613092|MESH:C567760 owl:Class MONDO:0023119 biolink:NamedThing familial myelofibrosis tmpte7i6ely_mondo_relaxed.owl UMLS:C2931351|GARD:0008516|MESH:C536848 https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis owl:Class HGNC:8582 biolink:NamedThing PAH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016078 biolink:NamedThing congenital systemic arteriovenous fistula tmpte7i6ely_mondo_relaxed.owl ICD10:Q27.3|Orphanet:2039 owl:Class MONDO:0020296 biolink:NamedThing congenital arteriovenous fistula An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. tmpte7i6ely_mondo_relaxed.owl MedDRA:10003226|NCIT:C35377|MESH:D001164|Orphanet:98731|SCTID:234148007 owl:Class MONDO:0017134 biolink:NamedThing odonto-onycho dysplasia-alopecia syndrome Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. tmpte7i6ely_mondo_relaxed.owl odonto onycho dysplasia with alopecia GARD:0004051|Orphanet:2722|UMLS:CN202534 owl:Class MONDO:0011763 biolink:NamedThing T-box 24 tmpte7i6ely_mondo_relaxed.owl T-box 24|T-box type 24|Tbx24 OMIM:607044 owl:Class MONDO:0060532 biolink:NamedThing congenital heart defects and skeletal malformations syndrome tmpte7i6ely_mondo_relaxed.owl CHDSKM|congenital heart defects and skeletal malformations syndrome OMIM:617602|UMLS:C4539857 owl:Class MONDO:0100353 biolink:NamedThing HHV-7 infectious disease A disease caused by infection with herpesvirus-7. tmpte7i6ely_mondo_relaxed.owl herpesvirus-7 infectious disease|HHV-7 infection http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010793 biolink:NamedThing nephropathy, chronic tubulointerstitial tmpte7i6ely_mondo_relaxed.owl nephropathy, chronic tubulointerstitial OMIM:551200|UMLS:C1838875|MESH:C564016 owl:Class MONDO:0002074 biolink:NamedThing Behcet syndrome arthropathy Arthropathy resulting from Behcet's syndrome. tmpte7i6ely_mondo_relaxed.owl arthropathy in Behcet's syndrome involving shoulder region|arthropathy in Behcet's syndrome involving forearm|arthropathy in Behcet's syndrome involving hand|arthropathy in Behcet's syndrome involving ankle and foot|arthropathy in Behcet's syndrome involving multiple sites|arthropathy in Behcet's syndrome involving upper arm|arthropathy in Behcet's syndrome involving pelvic region and thigh|arthropathy in Behcet's syndrome involving lower leg|arthropathy in Behcet's syndrome|Behcet's syndrome arthropathy|Behcet syndrome arthropathy NCIT:C35225|ICD9:711.26|ICD9:711.20|UMLS:C0157770|ICD9:711.28|SCTID:62918002|DOID:1670|ICD9:711.2|ICD9:711.23 owl:Class UBERON:0005343 biolink:NamedThing cortical plate tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:333 biolink:NamedThing AGT tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003598 biolink:NamedThing manus connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009171 biolink:NamedThing endothelial dystrophy, congenital hereditary, with nail hypoplasia tmpte7i6ely_mondo_relaxed.owl endothelial dystrophy, congenital hereditary, with nail hypoplasia UMLS:C1856970|MESH:C565591|OMIM:226110 owl:Class MONDO:0010402 biolink:NamedThing syndromic X-linked intellectual disability 94 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. tmpte7i6ely_mondo_relaxed.owl syndromic X-linked intellectual disability type 94|mental retardation, X-linked, syndromic 29|syndromic X-linked intellectual disability 29|syndromic X-linked mental retardation 29|intellectual disability, X-linked, syndromic, Wu type|MRXS29|mental retardation, X-linked, syndromic, Wu type|syndromic X-linked intellectual disability Wu type|syndromic X-linked intellectual disability 94|mental retardation, X-linked 94|syndromic X-linked intellectual disability due to GRIA3 anomalies|syndromic X-linked mental retardation Wu type|MRX94|MRXSW|intellectual disability, X-linked 94|intellectual disability, X-linked, syndromic 29 MESH:C567479|UMLS:C2678051|DOID:0060823|ICD10:F72|OMIM:300699|Orphanet:364028 owl:Class MONDO:0016351 biolink:NamedThing anti-HLA hyperimmunization Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion. tmpte7i6ely_mondo_relaxed.owl GARD:0000730|Orphanet:2194|UMLS:CN201194 https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization owl:Class MONDO:0030318 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 30 tmpte7i6ely_mondo_relaxed.owl SCAR30|spinocerebellar ataxia, autosomal recessive 30 OMIM:619405 owl:Class HGNC:9958 biolink:NamedThing REN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007912 biolink:NamedThing lithium transport tmpte7i6ely_mondo_relaxed.owl lithium transport OMIM:152420 owl:Class MONDO:0016662 biolink:NamedThing idiopathic recurrent pericarditis A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. tmpte7i6ely_mondo_relaxed.owl idiopathic relapsing pericarditis ICD10:I09.2|Orphanet:251307|SCTID:766704005 owl:Class MONDO:0010748 biolink:NamedThing torticollis-keloids-cryptorchidism-renal dysplasia syndrome Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. tmpte7i6ely_mondo_relaxed.owl TKCR|torticollis keloids cryptorchidism renal dysplasia|Tkcr syndrome|Goeminne syndrome|Tkc|torticollis, keloids, cryptorchidism, and renal dysplasia GARD:0005230|OMIM:314300|MESH:C536970|Orphanet:3341|ICD10:Q87.8|UMLS:C1839129 owl:Class MONDO:0019434 biolink:NamedThing systemic-onset juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. tmpte7i6ely_mondo_relaxed.owl systemic onset juvenile idiopathic arthritis|SoJIA|systemic juvenile idiopathic arthritis|Still's disease (formerly)|systemic polyarthritis|sJIA|Still disease|systemic onset juvenile rheumatoid arthritis|systemic-onset JIA EFO:1001999|GARD:0010966|ICD10:M08.2|OMIM:604302|MESH:C565798|NCIT:C119031|SCTID:201796004|Orphanet:85414 https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis owl:Class CL:2000052 biolink:NamedThing umbilical artery endothelial cell Any endothelial cell of artery that is part of a umbilical cord. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=8010 TermGenie 2014-10-06T19:01:48Z cell owl:Class UBERON:0012615 biolink:NamedThing umbilical smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007866 biolink:NamedThing Bart-Pumphrey syndrome tmpte7i6ely_mondo_relaxed.owl knuckle pads, leuconychia and sensorineural deafness|knuckle pads, leukonychia, and sensorineural deafness|Bart-Pumphrey syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ICD10:Q82.8|Orphanet:2698|MESH:C537210|DOID:0050658|GARD:0003125|ICD9:759.89|SCTID:1271009|OMIM:149200 owl:Class MONDO:0033486 biolink:NamedThing leukodystrophy, hypomyelinating, 14 tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 14|HLD14|hypomyelinating leukodystrophy 14 OMIM:617899|UMLS:CN845004|DOID:0080296 owl:Class MONDO:0006395 biolink:NamedThing rectal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpte7i6ely_mondo_relaxed.owl rectal Villotubular adenoma|tubulovillous adenoma of the rectum|rectal tubulovillous adenoma|tubulovillous adenoma of rectum|Villotubular adenoma of the rectum|Villotubular adenoma of rectum UMLS:C1335691|SCTID:448428002|EFO:1000505|NCIT:C5620 owl:Class MONDO:0010970 biolink:NamedThing cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies tmpte7i6ely_mondo_relaxed.owl cleft palate, Cardiac defects, and intellectual disability|cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|cleft palate, CARDIAC defects, and intellectual disability|CPCMR|cleft palate, CARDIAC defects, and mental retardation|cleft palate, Cardiac defects, and mental retardation DOID:0111697|MESH:C563414|OMIM:600987|UMLS:C1832950 owl:Class MONDO:0004524 biolink:NamedThing thyroid gland atypical follicular adenoma A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign. tmpte7i6ely_mondo_relaxed.owl thyroid gland atypical follicular adenoma|atypical follicular adenoma|atypical follicular adenoma (morphologic abnormality) ICDO:8330/1|DOID:8292|NCIT:C27729|UMLS:C1266046 owl:Class MONDO:0009190 biolink:NamedThing epiphyseal dysplasia of femoral head, myopia, and deafness tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia of femoral head, myopia, and deafness OMIM:226950|MESH:C565585|UMLS:C1856918 owl:Class HGNC:14921 biolink:NamedThing TAS2R16 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015985 biolink:NamedThing energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1902600 biolink:NamedThing proton transmembrane transport The directed movement of a proton across a membrane. tmpte7i6ely_mondo_relaxed.owl hydrogen transport|ATP hydrolysis coupled proton transport|proton transport|proton transmembrane transport|passive proton transport, down the electrochemical gradient|hydrogen ion transport|hydrogen transmembrane transport|hydrogen ion transmembrane transport owl:Class MONDO:0019018 biolink:NamedThing Tako-tsubo cardiomyopathy Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers. tmpte7i6ely_mondo_relaxed.owl ASC|apical ballooning syndrome|acute stress cardiomyopathy|stress-induced cardiomyopathy|broken heart syndrome|Tako tsubo syndrome|Takotsubo cardiomyopathy|broken-heart syndrome|transient antero-apical dyskinesia|transient left ventricular apical ballooning syndrome|Tako-Tsubo syndrome|left ventricular transient apical ballooning|ballooning cardiomyopathy|Takotsubo syndrome|stress cardiomyopathy|ampulla cardiomyopathy GARD:0009400|MESH:D054549|SCTID:441541008|EFO:1002000|NCIT:C85181|ICD10:I42.8|UMLS:CN205479|ICD9:429.83|Orphanet:66529|UMLS:C1739395 owl:Class MONDO:0001929 biolink:NamedThing ascending cholangitis Acute infection of the bile ducts caused by bacteria ascending from the small intestine. tmpte7i6ely_mondo_relaxed.owl ascending cholangitis NCIT:C35372|DOID:14270|UMLS:C0311273|SCTID:26918003|ICD10:K83.0 owl:Class UBERON:0005205 biolink:NamedThing lamina propria of vagina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005832 biolink:NamedThing lymphangitis Inflammation of the lymphatic vessels. tmpte7i6ely_mondo_relaxed.owl lymphatic vessel inflammation|inflammation of lymphatic vessel EFO:0007351|MESH:D008205|UMLS:C0024225|ICD10:I89.1|SCTID:1415005|ICD9:457.2|NCIT:C34790|DOID:9317 owl:Class MONDO:0043339 biolink:NamedThing lathyrism A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus. tmpte7i6ely_mondo_relaxed.owl vetchling poisoning|Neurolathyrism|Lathyrus species poisoning|lathyrism SCTID:5724005|MESH:D007842|GARD:0010441|EFO:1001776 owl:Class MONDO:0001331 biolink:NamedThing conjunctival deposit tmpte7i6ely_mondo_relaxed.owl ICD10:H11.11|UMLS:C0162280|SCTID:62660000|ICD9:372.56|DOID:11653 owl:Class CL:0008034 biolink:NamedThing mural cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. tmpte7i6ely_mondo_relaxed.owl dos 2020-02-29 17:33:55+00:00 owl:Class MONDO:0009423 biolink:NamedThing hypokalemic alkalosis, familial, with specific renal tubulopathy tmpte7i6ely_mondo_relaxed.owl hypokalemic alkalosis, familial, with specific renal tubulopathy|hypokalemia, familial|Gullner syndrome SCTID:81987005|UMLS:C0268444|MESH:C562654|OMIM:241150 owl:Class UBERON:0004888 biolink:NamedThing right lung hilus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003727 biolink:NamedThing animal phobia An overwhelming, irrational, and persistent fear of animals. tmpte7i6ely_mondo_relaxed.owl zoophobia (finding)|fear of animals (finding)|fear of animals|zoophobia EFO:1001876|DOID:600|NCIT:C35273 owl:Class MONDO:0003992 biolink:NamedThing childhood botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpte7i6ely_mondo_relaxed.owl botryoid-type embryonal rhabdomyosarcoma|pediatric botryoid rhabdomyosarcoma|childhood sarcoma Botryoides|childhood botryoid-type embryonal rhabdomyosarcoma|botryoid rhabdomyosarcoma of childhood UMLS:C1332944|DOID:6786|NCIT:C35574 owl:Class NCBITaxon:1437010 biolink:NamedThing Boreoeutheria tmpte7i6ely_mondo_relaxed.owl Boreotheria GC_ID:1|PMID:11743200|PMID:11791233 ncbi_taxonomy owl:Class MONDO:0006831 biolink:NamedThing leukostasis A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. tmpte7i6ely_mondo_relaxed.owl leukostasis (morphologic abnormality) MedDRA:10024404|UMLS:C0282548|DOID:12986|MESH:D018921|NCIT:C4062|EFO:1001016 owl:Class MONDO:0012033 biolink:NamedThing bradyopsia Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. tmpte7i6ely_mondo_relaxed.owl prolonged electroretinal response suppression|PERRS|bradyopsia SCTID:711163009|Orphanet:75374|MESH:C564243|OMIM:608415|ICD10:H53.8|ICD9:368.8|GARD:0012299|DOID:0050335 https://rarediseases.info.nih.gov/diseases/12299/bradyopsia owl:Class MONDO:0011884 biolink:NamedThing hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. tmpte7i6ely_mondo_relaxed.owl hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|HOPP syndrome|Hopp syndrome Orphanet:307936|ICD10:Q82.8|UMLS:C1843285|OMIM:607658|MESH:C564357|SCTID:763658004 owl:Class MONDO:0015812 biolink:NamedThing primary cutaneous gamma/delta-positive T-cell lymphoma Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. tmpte7i6ely_mondo_relaxed.owl Orphanet:178533|ICD10:C84.4 owl:Class MONDO:0030527 biolink:NamedThing epidermolysis bullosa simplex 2C, localized tmpte7i6ely_mondo_relaxed.owl EBS2C OMIM:619594 owl:Class GO:0070991 biolink:NamedThing medium-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12. tmpte7i6ely_mondo_relaxed.owl MCAD activity owl:Class MONDO:0002174 biolink:NamedThing preretinal fibrosis A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) tmpte7i6ely_mondo_relaxed.owl cellophane maculopathy|macular retinal puckering|macular puckering of retina MESH:D019773|ICD9:362.56|SCTID:367649002|ICD9:362.89|DOID:2006 owl:Class HGNC:8487 biolink:NamedThing ORC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013852 biolink:NamedThing hypertrophic cardiomyopathy 21 A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 21|CMH21|cardiomyopathy familial hypertrophic 21|hypertrophic cardiomyopathy type 21 OMIM:614676|UMLS:C3553442|DOID:0110311 owl:Class GO:0042886 biolink:NamedThing amide transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007439 biolink:NamedThing deoxyribose-5-phosphate aldolase deficiency tmpte7i6ely_mondo_relaxed.owl deoxyribose-5-phosphate aldolase deficiency OMIM:125460|MESH:C565112|UMLS:C1852200 owl:Class MONDO:0013004 biolink:NamedThing hypotonia, seizures, and precocious puberty tmpte7i6ely_mondo_relaxed.owl hypotonia, seizures, and precocious puberty UMLS:C2748586|OMIM:612777|MESH:C567566 owl:Class MONDO:0014683 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 tmpte7i6ely_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9|MDDGA9 UMLS:C4225291|Orphanet:899|Orphanet:370997|OMIM:616538|DOID:0111232 owl:Class UBERON:0003844 biolink:NamedThing upper eyelid epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008782 biolink:NamedThing amyotrophic lateral sclerosis with polyglucosan bodies tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis with polyglucosan bodies UMLS:C1859805|OMIM:205250|MESH:C565955|Orphanet:803 Not in the OMIM series. owl:Class MONDO:0010319 biolink:NamedThing syndromic X-linked intellectual disability Hedera type X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability with epilepsy|mental retardation, X-linked, with epilepsy|mental retardation, X-linked, syndromic, Hedera type|intellectual disability, X-linked, syndromic, Hedera type|X-linked mental retardation with epilepsy|MRXE|MRXSH|intellectual disability, X-linked, with epilepsy|X-linked intellectual disability, Hedera type OMIM:300423|Orphanet:93952|DOID:0060806|Orphanet:2076|UMLS:C1845543|MESH:C564516 owl:Class MONDO:0008575 biolink:NamedThing nicotine dependence Physical and psychological dependence on nicotine. tmpte7i6ely_mondo_relaxed.owl susceptibility to tobacco addiction|tobacco addiction, susceptibility to|cigarette habituation, susceptibility to|nicotine addiction|nicotine dependence, susceptibility to|nicotine addiction, susceptibility to|smoking habit, susceptibility to|tobacco use disorder SCTID:56294008|NCIT:C54203|ICD10:F17.2|ICD10:F17|ICD9:305.1|EFO:0003768|MESH:D014029|ICD10:F17.20|OMIM:188890|DOID:0050742 owl:Class MONDO:0015165 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. tmpte7i6ely_mondo_relaxed.owl AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor UMLS:CN197505|Orphanet:102381|ICD10:C92.0 owl:Class MONDO:0021927 biolink:NamedThing arthrogryposis epileptic seizures migrational brain disorder tmpte7i6ely_mondo_relaxed.owl arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder UMLS:C2931495|MESH:C537442|GARD:0000781 https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder owl:Class MONDO:0001789 biolink:NamedThing neurofibroma of spinal cord A neurofibroma that arises from the spinal cord. tmpte7i6ely_mondo_relaxed.owl neurofibroma of spinal cord|spinal cord neurofibroma UMLS:C1336047|DOID:13742|NCIT:C5145 owl:Class MONDO:0011184 biolink:NamedThing childhood apraxia of speech tmpte7i6ely_mondo_relaxed.owl articulatory apraxia|speech-language disorder type 1|speech-language disorder-1|childhood apraxia of speech|SPCH1|das|developmental apraxia of speech|CAS|speech and language disorder with orofacial dyspraxia|speech-language disorder 1|developmental verbal apraxia|developmental verbal dyspraxia OMIM:602081|GARD:0012889|ICD9:315.39|SCTID:229703009|Orphanet:209908 owl:Class MONDO:0030037 biolink:NamedThing neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures tmpte7i6ely_mondo_relaxed.owl NEDHCAS|Glycosylphosphatidylinositol Biosynthesis Defect 22|neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES OMIM:618879 owl:Class UBERON:0006065 biolink:NamedThing hemal arch tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009541 biolink:NamedThing lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis tmpte7i6ely_mondo_relaxed.owl lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis MESH:C565427|UMLS:C1855470|OMIM:247800 owl:Class MONDO:0008605 biolink:NamedThing triphalangeal thumb, Nonopposable tmpte7i6ely_mondo_relaxed.owl non-opposable triphalangeal thumb|triphalangeal thumb non opposable|triphalangeal thumb, Nonopposable|TPT MESH:C536562|OMIM:190600|UMLS:C2931238|GARD:0005288 owl:Class MONDO:0008257 biolink:NamedThing platelet responsiveness to adrenaline, depressed tmpte7i6ely_mondo_relaxed.owl platelet responsiveness to adrenaline, depressed OMIM:173580 owl:Class MONDO:0007701 biolink:NamedThing progressive familial heart block type II tmpte7i6ely_mondo_relaxed.owl PFHB2|progressive familial heart block, type II|progressive familial heart block type 2|PFHBII|heart block progressive familial type 2 ICD9:426.6|OMIM:140400|MESH:C564202|GARD:0004879|DOID:0111075|Orphanet:871|SCTID:698251009 https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2 owl:Class CHEBI:52208 biolink:NamedThing biophysical role tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022865 biolink:NamedThing corneal dystrophy ichthyosis microcephaly intellectual disability tmpte7i6ely_mondo_relaxed.owl GARD:0001528 https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation owl:Class MONDO:0023290 biolink:NamedThing grix Blankenship Peterson syndrome tmpte7i6ely_mondo_relaxed.owl craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation GARD:0002567 https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome owl:Class UBERON:0003326 biolink:NamedThing mesenchyme of mammary gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007248 biolink:NamedThing hereditary painful callosities Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. tmpte7i6ely_mondo_relaxed.owl Plamoplantar keratoderma nummularis|callosities, hereditary painful|Plamoplantar hyperkeratosis nummularis|PPK nummularis|keratosis palmoplantaris nummularis|callosities, painful plantar Orphanet:79141|ICD10:Q82.8|OMIM:114140|MESH:C566180|UMLS:C1861964 owl:Class MONDO:0007682 biolink:NamedThing granddad syndrome tmpte7i6ely_mondo_relaxed.owl granddad syndrome|Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance MESH:C564211|OMIM:138920|UMLS:C1841836 owl:Class HGNC:7662 biolink:NamedThing NCF4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9949 biolink:NamedThing RECQL4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012987 biolink:NamedThing agammaglobulinemia 6, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. tmpte7i6ely_mondo_relaxed.owl agammaglobulinemia, autosomal recessive, due to Cd79B defect|autosomal agammaglobulinemia caused by mutation in CD79B|agammaglobulinemia 6, autosomal recessive|CD79B autosomal agammaglobulinemia|AGM6 OMIM:612692|Orphanet:33110|UMLS:C3150207|Orphanet:229717 owl:Class MONDO:0100375 biolink:NamedThing acute myeloid leukemia, t(15;17)(q24;q21) Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(15;17)(q24;q21)|AML, t(15;17)(q22;q12)|AML, t(15;17)(q22;q21) NCIT:C27758|NCIT:C36055 owl:Class MONDO:0008875 biolink:NamedThing blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Frydman-Cohen-Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome Orphanet:2057|MESH:C536235|ICD10:Q87.8|GARD:0000905|SCTID:717914000|OMIM:210745 owl:Class MONDO:0016067 biolink:NamedThing Crandall syndrome This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. tmpte7i6ely_mondo_relaxed.owl alopecia-deafness-hypogonadism syndrome|alopecia deafness hypogonadism|alopecia-sensorineural deafness-hypogonadism syndrome ICD9:704.8|Orphanet:202|SCTID:278098005|GARD:0001561|UMLS:C0432348 https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome owl:Class MONDO:0008691 biolink:NamedThing zinc, elevated plasma tmpte7i6ely_mondo_relaxed.owl hyperzincemia, familial Dysalbuminemic|zinc, elevated plasma|hyperzincemia and hypercalprotectinemia|albumin binding of zinc, elevated UMLS:C1860229|OMIM:194470|Orphanet:251523 owl:Class MONDO:0007622 biolink:NamedThing flood factor deficiency tmpte7i6ely_mondo_relaxed.owl flood factor deficiency 2022-04-01 MESH:C565009|OMIM:136150|UMLS:C1851056 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0008932 biolink:NamedThing premature centromere division tmpte7i6ely_mondo_relaxed.owl X-chromosome centromere peculiarity|premature centromere division|PCD OMIM:212790|UMLS:C1859308 owl:Class MONDO:0001492 biolink:NamedThing kyphoscoliotic heart disease tmpte7i6ely_mondo_relaxed.owl UMLS:C0152102|ICD10:I27.1|ICD9:416.1|DOID:12325|SCTID:45650007 owl:Class MONDO:0019560 biolink:NamedThing lupus erythematosus tumidus Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy. tmpte7i6ely_mondo_relaxed.owl intermittent cutaneous lupus|tumid lupus erythematosus|let GARD:0013003|UMLS:C0406636|SCTID:200941006|ICD10:L93.2|Orphanet:90283|NCIT:C117112 https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus owl:Class HP:0009064 biolink:NamedThing Generalized lipodystrophy Generalized degenerative changes of the fat tissue. tmpte7i6ely_mondo_relaxed.owl Lipodystrophy, generalized|Generalised lipodystrophy|Lipodystrophy, generalised SNOMEDCT_US:284449005|UMLS:C0221032|MSH:D052497|SNOMEDCT_US:86907008 HP:0008966 human_phenotype owl:Class HGNC:11577 biolink:NamedThing TAZ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009898 biolink:NamedThing polysaccharide, storage of unusual tmpte7i6ely_mondo_relaxed.owl polysaccharide, storage of unusual OMIM:263600|MESH:C564877 owl:Class MONDO:0007631 biolink:NamedThing chromosome 16p12.1 deletion syndrome, 520kb A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. tmpte7i6ely_mondo_relaxed.owl fragile site, Distamycin a type, Rare, fra(16)(p12.1)|chromosome 16p12.1 deletion syndrome|fragile site 16P12|chromosome 16p12.1 deletion syndrome, type 520kb|chromosome 16p12.1 deletion syndrome, 520-KB NCIT:C129875|DOID:0060399|OMIM:136570|MESH:C565001 owl:Class MONDO:0013708 biolink:NamedThing intellectual disability, autosomal recessive 25 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 25|MRT25|intellectual disability, autosomal recessive 25 OMIM:614346|UMLS:C3280544 owl:Class MONDO:0021326 biolink:NamedThing malignant neoplasm of cervical esophagus A cancer that involves the cervical part of esophagus. tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus|malignant neoplasm of cervical part of esophagus|malignant cervical part of esophagus neoplasm|cervical part of esophagus cancer NCIT:C4763|ICD9:150.0|UMLS:C0496773|SCTID:187722004 owl:Class MONDO:0008286 biolink:NamedThing crossed polysyndactyly Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. tmpte7i6ely_mondo_relaxed.owl polysyndactyly, crossed|crossed polydactyly GARD:0001617|OMIM:175690|UMLS:C1867999|Orphanet:2935|ICD10:Q70.4|MESH:C566773 https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly owl:Class MONDO:0022089 biolink:NamedThing Carnevale hernandez castillo syndrome tmpte7i6ely_mondo_relaxed.owl Triphalyngeal thumbs and brachyectrodactyly MESH:C535585|GARD:0001117|UMLS:C2930940 https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome owl:Class CL:0002680 biolink:NamedThing PP cell of intestine A PP cell found in intestine. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-09-27T11:59:01Z cell owl:Class MONDO:0032905 biolink:NamedThing spastic paraplegia 81, autosomal recessive tmpte7i6ely_mondo_relaxed.owl SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE|SPG81 OMIM:618768 owl:Class UBERON:0004927 biolink:NamedThing submucosa of cecum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012327 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 46 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 46|DFNB46|autosomal recessive nonsyndromic deafness type 46|deafness, autosomal recessive 46|autosomal recessive deafness 46 MESH:C566459|UMLS:C1864815|ICD10:H90.3|OMIM:609647|DOID:0110503 owl:Class MONDO:0022013 biolink:NamedThing Boerhaave syndrome A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. tmpte7i6ely_mondo_relaxed.owl Boerhaave syndrome|spontaneous perforation of esophagus|Boerhave syndrome|spontaneous perforation of the esophagus|Boerhaave's syndrome|spontaneous rupture of the esophagus|spontaneous esophageal perforation|boerhaave's syndrome|spontaneous rupture of esophagus SCTID:19995004|MESH:C536571|GARD:0009261|UMLS:C0238115 https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome owl:Class MONDO:0019232 biolink:NamedThing inborn disorder of peptide metabolism tmpte7i6ely_mondo_relaxed.owl disorder of peptide metabolism Orphanet:79187|UMLS:CN227597 owl:Class MONDO:0012087 biolink:NamedThing primary ciliary dyskinesia 4 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 4, with or without situs inversus|ciliary dyskinesia, primary, 4|primary ciliary dyskinesia type 4|primary ciliary dyskinesia 4 with or without situs inversus|CILD4 MESH:C535279|DOID:0110614|OMIM:608646|UMLS:C1837616|ICD10:Q34.8 owl:Class HGNC:37212 biolink:NamedThing KLLN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004898 biolink:NamedThing total circumpapillary dystrophy of choroid tmpte7i6ely_mondo_relaxed.owl circumpapillary dystrophy of choroid, total SCTID:59753003|DOID:9842|ICD9:363.52|UMLS:C0154896 owl:Class MONDO:0010819 biolink:NamedThing Stargardt disease 3 tmpte7i6ely_mondo_relaxed.owl STGD3|Stargardt disease type 3|Stargardt-like macular dystrophy, autosomal dominant|macular dystrophy with flecks, type 3|Stargardt disease 3 Orphanet:827|OMIM:600110|MESH:C535805|UMLS:C1838644 owl:Class MONDO:0032657 biolink:NamedThing developmental and epileptic encephalopathy, 69 tmpte7i6ely_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69|EIEE69|DEE69|epileptic encephalopathy, early infantile, 69 OMIM:618285 owl:Class MONDO:0011375 biolink:NamedThing brittle bone disorder tmpte7i6ely_mondo_relaxed.owl brittle bone disorder MESH:C565842|OMIM:603828|UMLS:C1859069 owl:Class HGNC:25523 biolink:NamedThing CCDC88A tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003249 biolink:NamedThing Genital ulcers tmpte7i6ely_mondo_relaxed.owl Genital ulcers UMLS:C0151281 human_phenotype owl:Class MONDO:0019533 biolink:NamedThing paroxysmal cold hemoglobinuria Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. tmpte7i6ely_mondo_relaxed.owl hemoglobinuria paroxysmal cold|PCH|Donath-Landsteiner hemolytic anemia|Donath-Landsteiner syndrome Orphanet:90035|GARD:0007335|ICD10:D59.6|SCTID:127057004 owl:Class MONDO:0000483 biolink:NamedThing oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. tmpte7i6ely_mondo_relaxed.owl DOID:0050842 owl:Class HGNC:9580 biolink:NamedThing PSTPIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002016 biolink:NamedThing benign familial neonatal epilepsy A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) tmpte7i6ely_mondo_relaxed.owl familial neonatal seizures GARD:0002159|SCTID:279953009|DOID:14777 owl:Class MONDO:0012306 biolink:NamedThing cardiomyopathy, familial restrictive, 2 tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, familial restrictive, 2|RCM2 MESH:C566512|DOID:0111426|UMLS:C1865071|Orphanet:75249|OMIM:609578 owl:Class MONDO:0007214 biolink:NamedThing brachydactyly-preaxial hallux varus syndrome Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. tmpte7i6ely_mondo_relaxed.owl dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction|brachydactyly preaxial with hallux varus and thumb abduction|Christian brachydactyly|preaxial brachydactyly with hallux varus and thumb abduction DOID:0110962|Orphanet:1278|MESH:C537087|GARD:0000972|UMLS:C1862162|ICD10:Q73.8|OMIM:112450 owl:Class MONDO:0003665 biolink:NamedThing cervical endometrioid adenocarcinoma A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. tmpte7i6ely_mondo_relaxed.owl endometrioid carcinoma of uterine cervix|uterine cervix endometrioid adenocarcinoma|endometrioid adenocarcinoma of the uterine cervix|endometrioid adenocarcinoma of cervix uteri|endometrioid carcinoma of the cervix|cervix endometrioid adenocarcinoma|cervical endometrioid carcinoma|cervix uteri endometrioid carcinoma|endometrioid carcinoma of cervix uteri|endometrioid carcinoma of the cervix uteri|cervix uteri endometrioid adenocarcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of the cervix uteri|endometrioid adenocarcinoma of the cervix|endometrioid carcinoma of cervix|endometrioid adenocarcinoma of uterine cervix|endometrioid carcinoma of the uterine cervix|cervix endometrioid carcinoma|uterine cervix endometrioid carcinoma|cervical endometrioid adenocarcinoma UMLS:C1332913|EFO:1000164|NCIT:C6343|DOID:5830|ONCOTREE:CEEN owl:Class MONDO:0008388 biolink:NamedThing ringed hair disease Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. tmpte7i6ely_mondo_relaxed.owl pili annulati|ringed hair OMIM:180600|ICD10:Q84.1|UMLS:C0263489|Orphanet:169|SCTID:21926007|MESH:C537187|GARD:0004359 owl:Class MONDO:0022693 biolink:NamedThing cerebral calcification cerebellar hypoplasia tmpte7i6ely_mondo_relaxed.owl GARD:0001201 https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia owl:Class MONDO:0000914 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. tmpte7i6ely_mondo_relaxed.owl CADASIL1|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|CADASIL 1|CADASIL syndrome|hereditary multi-infarct dementia|familial vascular leukoencephalopathy|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|dementia, hereditary multi-infarct type|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|CASIL|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|CADASIL type 1|CADASIL MedDRA:10065551|UMLS:C0751587|MESH:D046589|NCIT:C84606|DOID:0111035|ICD10:F01.1|OMIM:125310|GARD:0001049|Orphanet:136|SCTID:390936003 owl:Class MONDO:0054791 biolink:NamedThing leukodystrophy, hypomyelinating, 16 tmpte7i6ely_mondo_relaxed.owl HLD16|leukodystrophy, hypomyelinating, 16 OMIM:617964|UMLS:CN244907 owl:Class MONDO:0009574 biolink:NamedThing megalencephaly with dysmyelination tmpte7i6ely_mondo_relaxed.owl megalencephaly with diffuse white matter hypodensity|megalencephaly with dysmyelination OMIM:249240|UMLS:C1855309|MESH:C565408 owl:Class MONDO:0032583 biolink:NamedThing microcephaly 24, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MCPH24|MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618179 owl:Class MONDO:0008690 biolink:NamedThing xeroderma pigmentosum, autosomal dominant, mild tmpte7i6ely_mondo_relaxed.owl xeroderma pigmentosum, autosomal dominant, mild MESH:C565989|UMLS:C1860231|Orphanet:910|OMIM:194400 owl:Class MONDO:0022308 biolink:NamedThing corticobasal degeneration disorder A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. tmpte7i6ely_mondo_relaxed.owl cortical-basal ganglionic degeneration|CBGD|cortical basal ganglionic Degeneration|corticobasal syndrome|cortico-basal ganglionic Degeneration (CBGD)|cortical basal ganglionic degeneration|corticobasal degeneration|corticodentatonigral degeneration with neuronal achromasia NCIT:C129069|GARD:0000046 https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration owl:Class MONDO:0015043 biolink:NamedThing extramedullary soft tissue plasmacytoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN197328|ICD10:C90.2|Orphanet:100022 owl:Class HGNC:9457 biolink:NamedThing PLPBP tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010199 biolink:NamedThing bona-fide anatomical boundary tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0400000 biolink:NamedThing small intestinal bacterial overgrowth The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity. tmpte7i6ely_mondo_relaxed.owl SIBO owl:Class MONDO:0010620 biolink:NamedThing hypouricemia, familial renal, due to tubular hypersecretion tmpte7i6ely_mondo_relaxed.owl hypouricemia, familial renal, due to tubular hypersecretion OMIM:307830|Orphanet:94088|UMLS:C1843972|MESH:C564405 owl:Class MONDO:0009071 biolink:NamedThing hereditary renal hypouricemia Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). tmpte7i6ely_mondo_relaxed.owl hypouricemia, renal|Dalmatian hypouricemia|renal hypouricemia ICD9:790.6|MESH:C537757|OMIM:242050|SCTID:236478009|OMIM:612076|OMIM:220150|OMIM:307830|GARD:0009496|Orphanet:94088 owl:Class HGNC:16499 biolink:NamedThing RAB39B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010861 biolink:NamedThing type 1 diabetes mellitus 3 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26. tmpte7i6ely_mondo_relaxed.owl IDDM3|diabetes mellitus, insulin-dependent, 3|insulin-dependent diabetes mellitus 3 ICD10:E10|UMLS:C1838262|DOID:0110742|MESH:C563960|OMIM:600318 owl:Class MONDO:0005597 biolink:NamedThing cystic renal cell carcinoma Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. tmpte7i6ely_mondo_relaxed.owl EFO:0006388|PMID:3739121 owl:Class MONDO:0004931 biolink:NamedThing residual stage corticosteroid-induced glaucoma tmpte7i6ely_mondo_relaxed.owl DOID:9948|SCTID:193549003|UMLS:C0339580|ICD9:365.32 owl:Class HGNC:11495 biolink:NamedThing SYN2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8565 biolink:NamedThing PABPN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001291 biolink:NamedThing brain compression tmpte7i6ely_mondo_relaxed.owl ICD9:348.4|ICD10:G93.5|DOID:11457|SCTID:46963008|UMLS:C0009592 owl:Class HGNC:19027 biolink:NamedThing LRRC8A tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:42740 biolink:NamedThing Opalinata tmpte7i6ely_mondo_relaxed.owl Slopalinida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016480 biolink:NamedThing silver-Russell syndrome due to an imprinting defect of 11p15 tmpte7i6ely_mondo_relaxed.owl Silver-Russell syndrome due to an imprinting defect of type 11p15 ICD10:Q87.1|UMLS:CN201475|Orphanet:231140 owl:Class GO:0006879 biolink:NamedThing cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. tmpte7i6ely_mondo_relaxed.owl iron homeostasis owl:Class NCIT:C35681 biolink:NamedThing Negative Test Result tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002538 biolink:NamedThing intrahepatic cholangiocyte An epithelial cell of the intrahepatic portion of the bile duct. These cells are flattened or cuboidal in shape, and have a small nuclear-to-cytoplasmic ratio relative to large/extrahepatic cholangiocytes. tmpte7i6ely_mondo_relaxed.owl small bile duct cholangiocyte tmeehan 2011-02-28T01:20:20Z cell owl:Class MONDO:0017514 biolink:NamedThing split foot, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295126|ICD10:Q72.73|ICD10:Q72.7 owl:Class MONDO:0010252 biolink:NamedThing intellectual disability, X-linked, with panhypopituitarism tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with panhypopituitarism|intellectual disability, X-linked, with isolated Growth hormone deficiency|mental retardation, X-linked, with panhypopituitarism Orphanet:631|Orphanet:231692|OMIM:300123|Orphanet:67045 owl:Class NCBITaxon:6332 biolink:NamedThing Trichinellidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10911 biolink:NamedThing Coltivirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0098588 biolink:NamedThing bounding membrane of organelle The lipid bilayer that forms the outer-most layer of an organelle. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011589 biolink:NamedThing non-mineralized cartilage tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020634 biolink:NamedThing grade III meningioma A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma. tmpte7i6ely_mondo_relaxed.owl meningioma, malignant|grade 3 meningioma|grade III meningioma|WHO grade III meningioma NCIT:C38938 owl:Class HGNC:9142 biolink:NamedThing PRRX1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12631 biolink:NamedThing USP8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011572 biolink:NamedThing type 1 diabetes mellitus 18 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1. tmpte7i6ely_mondo_relaxed.owl insulin-dependent diabetes mellitus 18|IDDM18|diabetes mellitus, insulin-dependent, 18 MESH:C565315|DOID:0110755|ICD10:E10|UMLS:C1854125|OMIM:605598 owl:Class MONDO:0023660 biolink:NamedThing angioedema, hereditary, 6 tmpte7i6ely_mondo_relaxed.owl HAE6 OMIM:619363 owl:Class MONDO:0014151 biolink:NamedThing pulmonary hypertension, neonatal, susceptibility to tmpte7i6ely_mondo_relaxed.owl susceptibility to neonatal pulmonary hypertension|PHN|pulmonary hypertension, neonatal, susceptibility to OMIM:615371 owl:Class GO:0047708 biolink:NamedThing biotinidase activity Catalysis of the reaction: biotin amide + H2O = biotin + NH3. tmpte7i6ely_mondo_relaxed.owl amidohydrolase biotinidase activity|biotin-amide amidohydrolase activity owl:Class MONDO:0032655 biolink:NamedThing visual impairment and progressive phthisis bulbi tmpte7i6ely_mondo_relaxed.owl VIPB|VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI DOID:0070356|OMIM:618283 owl:Class HGNC:18481 biolink:NamedThing ATP6V0A2 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0016999 biolink:NamedThing antibiotic metabolic process The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms. tmpte7i6ely_mondo_relaxed.owl antibiotic metabolism owl:Class CL:0002113 biolink:NamedThing B220-low CD38-negative unswitched memory B cell A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0017041 biolink:NamedThing osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. tmpte7i6ely_mondo_relaxed.owl Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome Orphanet:2653|SCTID:722108000|UMLS:CN202358 owl:Class MONDO:0020858 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 tmpte7i6ely_mondo_relaxed.owl MC5DN5|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5|Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type OMIM:618120 owl:Class GO:0016409 biolink:NamedThing palmitoyltransferase activity Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004571 biolink:NamedThing intestinal impaction tmpte7i6ely_mondo_relaxed.owl ICD10:K56.4|ICD9:560.30|DOID:8448|SCTID:62851005|ICD9:560.39|ICD10:K56.49 owl:Class MONDO:0012549 biolink:NamedThing autosomal recessive ataxia, Beauce type A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. tmpte7i6ely_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 8|recessive ataxia of Beauce|autosomal recessive ataxia Beauce type|spinocerebellar ataxia autosomal recessive 8|autosomal recessive cerebellar ataxia type 1|spinocerebellar ataxia, autosomal recessive 8|SYNE1-related autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 8|ARCA1|SCAR8|ataxia, recessive, of Beauce|cerebellar ataxia, autosomal recessive, type 1 OMIM:610743|DOID:0111618|UMLS:C1853116|UMLS:C3683483|ICD10:G11.2|Orphanet:88644|GARD:0012234 owl:Class MONDO:0016305 biolink:NamedThing atypical pantothenate kinase-associated neurodegeneration tmpte7i6ely_mondo_relaxed.owl neurodegeneration with brain iron accumulation type 1, atypical form|NBIA1, atypical form|PKAN, atypical form UMLS:CN201110|ICD10:G23.0|Orphanet:216873 owl:Class MONDO:0011552 biolink:NamedThing schizophrenia 10 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 15Q15-related|schizophrenia 10|SCZD10|catatonia, periodic OMIM:605419|MESH:D012560|DOID:0070086 owl:Class UBERON:0001529 biolink:NamedThing brachiocephalic artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018748 biolink:NamedThing linear IgA Dermatosis Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). tmpte7i6ely_mondo_relaxed.owl MESH:D062027|MedDRA:10024515|UMLS:C0406650|SCTID:95330001|ICD10:L10.8|Orphanet:46488|GARD:0010960 owl:Class MONDO:0004174 biolink:NamedThing secretory uterine corpus endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium. tmpte7i6ely_mondo_relaxed.owl endometrial endometrioid adenocarcinoma, secretory variant|secretory uterine corpus endometrioid adenocarcinoma ICDO:8382/3|DOID:7289|NCIT:C27839|UMLS:C1336907 owl:Class OBO:CARO_0030000 biolink:NamedThing biological entity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015084 biolink:NamedThing FRAXF syndrome FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. tmpte7i6ely_mondo_relaxed.owl UMLS:C4274329|SCTID:716708005|Orphanet:100974|UMLS:CN197382 owl:Class HGNC:8943 biolink:NamedThing SERPINI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013664 biolink:NamedThing 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency tmpte7i6ely_mondo_relaxed.owl SRXY8|male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|46,XY sex reversal type 8|46,XY sex reversal 8 Orphanet:90796|OMIM:614279|ICD10:E29.1|DOID:0111773|UMLS:C1839840|MESH:C564109|SCTID:49013001|Orphanet:443087 owl:Class MONDO:0019597 biolink:NamedThing 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. tmpte7i6ely_mondo_relaxed.owl OMIM:202110|UMLS:CN206443|ICD10:E29.1|Orphanet:90796 owl:Class MONDO:0004416 biolink:NamedThing plasmacytoid variant infiltrating bladder urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl plasmacytoid/signet ring cell bladder carcinoma|infiltrating bladder urothelial carcinoma, plasmacytoid variant UMLS:C1512742|ONCOTREE:SRCBC|DOID:7968|NCIT:C39823 owl:Class NCBITaxon:1903410 biolink:NamedThing Pectobacteriaceae tmpte7i6ely_mondo_relaxed.owl PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017591 biolink:NamedThing combined pulmonary fibrosis-emphysema syndrome tmpte7i6ely_mondo_relaxed.owl CPFE ICD10:J84.1|UMLS:CN203401|Orphanet:300564 owl:Class MONDO:0003616 biolink:NamedThing salpingitis isthmica nodosa Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy. tmpte7i6ely_mondo_relaxed.owl SCTID:36742000|UMLS:C0269043|DOID:5730|NCIT:C40119 owl:Class MONDO:0004178 biolink:NamedThing testicular yolk sac tumor, endodermal sinus pattern A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl testicular yolk sac tumor, endodermal sinus pattern|endodermal sinus pattern testicular yolk sac tumor UMLS:C1515303|DOID:7302|NCIT:C39927 owl:Class MONDO:0019456 biolink:NamedThing acute myeloid leukemia with multilineage dysplasia An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia. tmpte7i6ely_mondo_relaxed.owl AML with myelodysplasia-related features|acute myeloid leukaemia with myelodysplasia-related features|AML with multilineage dysplasia|De novo acute myeloid leukemia with multilineage dysplasia UMLS:C1292773|Orphanet:86845|ICDO:9895/3|SCTID:445448008|ICD10:C92.8|GARD:0012761|OMIM:601626|NCIT:C9289 owl:Class MONDO:0009705 biolink:NamedThing carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. tmpte7i6ely_mondo_relaxed.owl CPT1A disorder of carnitine cycle and carnitine transport|CPT1A deficiency|Carnitine palmitoyl transferase IA deficiency|Carnitine palmitoyl transferase 1 deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|L-CPTI deficiency|hepatic carnitine palmitoyltransferase 1 deficiency|CPT I deficiency|Carnitine Palmitoyltransferase 1 deficiency|disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|L-CPT1 deficiency|Carnitine palmitoyltransferase 1A deficiency|L-CPT 1 deficiency|carnitine palmitoyltransferase I deficiency|carnitine palmitoyl transferase 1A deficiency|hepatic carnitine palmitoyl transferase I deficiency|hepatic CPT1|CPT deficiency, hepatic, type 1|Carnitine Palmitoyltransferase 1A deficiency|hepatic CPT deficiency type I|carnitine palmitoyl transferase IA deficiency|CPT 1 deficiency MESH:C535588|SCTID:238001003|UMLS:C1829703|DOID:0090129|HGNC:2328|ICD10:E71.3|OMIM:255120|ICD9:277.85|GARD:0001120|NCIT:C98871|Orphanet:156 Editor note: consider adding sibling for CPT-1B https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency owl:Class MONDO:0032656 biolink:NamedThing microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum tmpte7i6ely_mondo_relaxed.owl MCIDDS|MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM OMIM:618284 owl:Class MONDO:0017066 biolink:NamedThing cervical spina bifida aperta tmpte7i6ely_mondo_relaxed.owl UMLS:CN202425|SCTID:425687007|Orphanet:268392|ICD9:741.91 owl:Class HGNC:5985 biolink:NamedThing IL17RA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010111 biolink:NamedThing odontotrichomelic syndrome Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities|odontotrichomelic syndrome|Freire-Maia odontotrichomelic syndrome|Freire-Maia syndrome|odontotrichomelic hypohidrotic dysplasia MESH:C535637|UMLS:CN074199|UMLS:C2930960|Orphanet:2723|OMIM:273400|GARD:0002381|SCTID:239028001 https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome owl:Class UBERON:8410028 biolink:NamedThing arteriole of appendix tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:38297 biolink:NamedThing thiabicycloalkane tmpte7i6ely_mondo_relaxed.owl thiabicycloalkanes owl:Class BFO:0000144 biolink:NamedThing process profile b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) tmpte7i6ely_mondo_relaxed.owl ProcessProfile process-profile b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005]) On a somewhat higher level of complexity are what we shall call rate process profiles, which are the targets of selective abstraction focused not on determinate quality magnitudes plotted over time, but rather on certain ratios between these magnitudes and elapsed times. A speed process profile, for example, is represented by a graph plotting against time the ratio of distance covered per unit of time. Since rates may change, and since such changes, too, may have rates of change, we have to deal here with a hierarchy of process profile universals at successive levels|One important sub-family of rate process profiles is illustrated by the beat or frequency profiles of cyclical processes, illustrated by the 60 beats per minute beating process of John’s heart, or the 120 beats per minute drumming process involved in one of John’s performances in a rock band, and so on. Each such process includes what we shall call a beat process profile instance as part, a subtype of rate process profile in which the salient ratio is not distance covered but rather number of beat cycles per unit of time. Each beat process profile instance instantiates the determinable universal beat process profile. But it also instantiates multiple more specialized universals at lower levels of generality, selected from rate process profilebeat process profileregular beat process profile3 bpm beat process profile4 bpm beat process profileirregular beat process profileincreasing beat process profileand so on.In the case of a regular beat process profile, a rate can be assigned in the simplest possible fashion by dividing the number of cycles by the length of the temporal region occupied by the beating process profile as a whole. Irregular process profiles of this sort, for example as identified in the clinic, or in the readings on an aircraft instrument panel, are often of diagnostic significance.|The simplest type of process profiles are what we shall call ‘quality process profiles’, which are the process profiles which serve as the foci of the sort of selective abstraction that is involved when measurements are made of changes in single qualities, as illustrated, for example, by process profiles of mass, temperature, aortic pressure, and so on. (forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005] |(iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002] owl:Class NCBITaxon:169495 biolink:NamedThing This tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:169455 biolink:NamedThing Coelopellini tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:11602 biolink:NamedThing TBX3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012980 biolink:NamedThing endocrine-cerebro-osteodysplasia syndrome Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. tmpte7i6ely_mondo_relaxed.owl ECO|endocrine-CEREBROOSTEODYSPLASIA|ECO syndrome DOID:0060641|Orphanet:199332|UMLS:C2675227|OMIM:612651|ICD10:Q87.8|SCTID:723309006|MESH:C567210|UMLS:C4509819 owl:Class HP:0011792 biolink:NamedThing Neoplasm by histology Neoplasm categorized according to type of histological abnormality. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023186 peter 2012-04-22T06:57:50Z human_phenotype owl:Class UBERON:0010538 biolink:NamedThing paired limb/fin segment tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003622 biolink:NamedThing pancreatic vasoactive intestinal peptide producing tumor A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. tmpte7i6ely_mondo_relaxed.owl pancreatic VIP producing neoplasm|pancreatic VIP producing tumor|pancreatic VIP producing NET|pancreatic vasoactive intestinal peptide producing tumor|pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP-producing neuroendocrine tumor UMLS:C2033037|NCIT:C27454|DOID:5741 owl:Class MONDO:0011194 biolink:NamedThing Alzheimer disease 5 tmpte7i6ely_mondo_relaxed.owl Alzheimer disease, familial 5|AD5|Alzheimer disease 5|Alzheimer disease type 5|Ad5|Alzheimer's disease 5|Alzheimer disease, familial, 5|Alzheimer's disease type 5 UMLS:C1865868|DOID:0110037|ICD10:G30|MESH:C566578|OMIM:602096 owl:Class HGNC:7979 biolink:NamedThing NR3C2 tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0009012 biolink:NamedThing plant structure development stage A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes. tmpte7i6ely_mondo_relaxed.owl Arabidopsis growth (related)|etapa de desarrollo de estructura vegetal (Spanish, exact)|plant growth and development stage (exact) PO_GIT:185 Refers to GO:0032502 'developmental process', which includes growth, differentiation, and senescence, and BFO:0000003 'ocurrent'. PO:0007021 plant_structure_development_stage owl:Class MONDO:0019836 biolink:NamedThing congenital anomaly of hepatic vein tmpte7i6ely_mondo_relaxed.owl ICD10:Q26.8|Orphanet:95507 owl:Class HGNC:26038 biolink:NamedThing TMEM127 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019584 biolink:NamedThing localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. tmpte7i6ely_mondo_relaxed.owl Orphanet:90399|ICD10:L98.5 owl:Class MONDO:0008336 biolink:NamedThing pterygium colli, isolated tmpte7i6ely_mondo_relaxed.owl pterygium colli, isolated UMLS:C1867442|OMIM:177990|MESH:C566741 owl:Class MONDO:0003271 biolink:NamedThing iodine hypothyroidism tmpte7i6ely_mondo_relaxed.owl DOID:5083|SCTID:190279008|ICD9:244.2|UMLS:C0154159 owl:Class MONDO:0005190 biolink:NamedThing macroglobulinemia Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. tmpte7i6ely_mondo_relaxed.owl primary macroglobulinemia DOID:9080|EFO:0002616|SCTID:190817009|ICD10:C88.0|Wikipedia:Macroglobulinemia|ICD9:273.3 owl:Class MONDO:0009521 biolink:NamedThing leukemia, acute myelocytic, with polyposis coli and colon cancer tmpte7i6ely_mondo_relaxed.owl leukemia, acute myelocytic, with polyposis coli and colon cancer UMLS:C1855505|OMIM:246470|MESH:C565441 owl:Class MONDO:0001987 biolink:NamedThing senile degeneration of brain tmpte7i6ely_mondo_relaxed.owl Senile brain degen. UMLS:C0154669|ICD9:331.2|DOID:14524|SCTID:45864009 owl:Class MONDO:0017086 biolink:NamedThing primary tethered cord syndrome Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. tmpte7i6ely_mondo_relaxed.owl tethered cord syndrome|occult spinal dysraphism sequence|segmental vertebral anomalies|primary tethered spinal cord syndrome|occult spinal dysraphism UMLS:CN202446|Orphanet:268861|GARD:0004018|SCTID:70534000 owl:Class MONDO:0012053 biolink:NamedThing aneurysm, intracranial berry, 2 tmpte7i6ely_mondo_relaxed.owl ANIB2|aneurysm, intracranial BERRY, 2 OMIM:608542|Orphanet:231160|UMLS:C1837894|MESH:C536360|GARD:0010033 owl:Class MONDO:0017560 biolink:NamedThing congenital genu recurvatum An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. tmpte7i6ely_mondo_relaxed.owl genu recurvatum|hyperextension deformity of knee|hyperextension of knee deformity ICD10:Q68.2|ICD9:754.40|NCIT:C103184|Orphanet:295229|SCTID:205063003 owl:Class MONDO:0001923 biolink:NamedThing vitreoretinal dystrophy tmpte7i6ely_mondo_relaxed.owl vitreoretinal dystrophies ICD10:H35.51|DOID:14251|SCTID:79556007|ICD9:362.73|UMLS:C0154863 owl:Class HGNC:7461 biolink:NamedThing MT-ND5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010740 biolink:NamedThing taurodontism, microdontia, and dens invaginatus tmpte7i6ely_mondo_relaxed.owl taurodontism, microdontia, and dens invaginatus UMLS:C1839235|OMIM:313490|GARD:0010068|MESH:C536947 https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus owl:Class MONDO:0006021 biolink:NamedThing Prinzmetal angina A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. tmpte7i6ely_mondo_relaxed.owl variant angina pectoris|angina inversa|variant angina|Prinzmetal's angina|Prinzmetal's variant angina UMLS:C2931193|SCTID:23687008|EFO:1000013|ICD9:413.1|NCIT:C66915|UMLS:C0002963|Wikipedia:Prinzmetal's_angina|MESH:D000788|DOID:0111151|GARD:0007465|SCTID:87343002 Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). owl:Class MONDO:0005356 biolink:NamedThing coronary vasospasm Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. tmpte7i6ely_mondo_relaxed.owl coronary vasospasm|coronary artery spasm|coronary artery vasospasm SCTID:23687008|ICD9:413.9|NCIT:C34515|DOID:11840|EFO:0004225|UMLS:C0010073|MESH:D003329 owl:Class MONDO:0023137 biolink:NamedThing feigenbaum Bergeron syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002280 https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome owl:Class UBERON:0015789 biolink:NamedThing cranial or facial muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100466 biolink:NamedThing butterfly-shaped pigment dystrophy A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. tmpte7i6ely_mondo_relaxed.owl butterfly-shaped pigmentary macular dystrophy|butterfly-shaped pattern dystrophy|butterfly-shaped pigment dystrophy UMLS:C4511237|SCTID:725590001|Orphanet:99001 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/1819 owl:Class MONDO:0011557 biolink:NamedThing radiation sensitivity/chromosome instability syndrome, autosomal dominant tmpte7i6ely_mondo_relaxed.owl radiation sensitivity/chromosome instability syndrome, autosomal dominant UMLS:C1854244|MESH:C565326|OMIM:605463 owl:Class MONDO:0003956 biolink:NamedThing Baastrup syndrome tmpte7i6ely_mondo_relaxed.owl Baastrup syndrome|Baastrup's syndrome|kissing spine SCTID:82304009|ICD9:721.5|ICD10:M48.20|UMLS:C0158248|ICD10:M48.2|DOID:6643 owl:Class MONDO:0012311 biolink:NamedThing spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness tmpte7i6ely_mondo_relaxed.owl spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness MESH:C566507|UMLS:C1865022|OMIM:609616 owl:Class MONDO:0004901 biolink:NamedThing lingual-facial-buccal dyskinesia Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. tmpte7i6ely_mondo_relaxed.owl oro-facial dyskinesia UMLS:C0152115|ICD10:G24.4|MESH:D009069|SCTID:49386006|ICD9:333.82|DOID:9854 owl:Class NCBITaxon:169449 biolink:NamedThing Coelopinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012159 biolink:NamedThing lung cancer susceptibility 1 tmpte7i6ely_mondo_relaxed.owl lung cancer susceptibility 1|LNCR1 OMIM:608935|UMLS:C1837089 owl:Class MONDO:0016461 biolink:NamedThing 5q35 microduplication syndrome The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. tmpte7i6ely_mondo_relaxed.owl trisomy 5q35|dup(5)(q35) ICD10:Q92.3|Orphanet:228415|UMLS:C4304526|SCTID:719665003|UMLS:CN201426 owl:Class MONDO:0033480 biolink:NamedThing spinocerebellar ataxia 45 tmpte7i6ely_mondo_relaxed.owl SCA45|spinocerebellar ataxia 45 DOID:0080287|Orphanet:589527|OMIM:617769|UMLS:CN623017 owl:Class MONDO:0011078 biolink:NamedThing anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis tmpte7i6ely_mondo_relaxed.owl Jung Wolff back Stahl syndrome|anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis GARD:0003062|UMLS:C1832362|MESH:C537694|OMIM:601427 owl:Class NCBITaxon:431037 biolink:NamedThing unclassified Roseolovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020977 biolink:NamedThing granulomatous prostatitis An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue. tmpte7i6ely_mondo_relaxed.owl Granulomatous prostatitis|granulomatous prostatitis|Granulomatous Prostatitis NCIT:C26789|ICD9:601.8|SCTID:61500009|UMLS:C0018204 owl:Class HP:0033095 biolink:NamedThing Increased sulfur amino acid level in urine An elevated level of a sulfur-containing amino acid in the urine. tmpte7i6ely_mondo_relaxed.owl Increased sulphur amino acid level in urine|Increased sulfur-containing amino acid level in urine peter human_phenotype owl:Class MONDO:0015726 biolink:NamedThing distal trisomy 14q tmpte7i6ely_mondo_relaxed.owl distal trisomy type 14q|trisomy 14qter|telomeric duplication 14q|distal duplication 14q ICD10:Q92.3|MESH:C538034|Orphanet:1705|UMLS:CN036934 owl:Class MONDO:0017332 biolink:NamedThing pyoderma gangrenosum-acne-suppurative hidradenitis syndrome tmpte7i6ely_mondo_relaxed.owl pash syndrome EFO:0009009|UMLS:CN202977|Orphanet:289478 owl:Class MONDO:0010243 biolink:NamedThing X-linked immunoneurologic disorder X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. tmpte7i6ely_mondo_relaxed.owl Woods Black Norbury syndrome|immunoneurologic disorder, X-linked|Woods-Black-Norbury syndrome|neonatal death immune deficiency|X-linked immunoneurological disorder Orphanet:2571|ICD10:D82.8|GARD:0000274|OMIM:300076|SCTID:719827008|MESH:C536743|UMLS:C1848144 owl:Class NCBITaxon:163158 biolink:NamedThing Xenopsylla tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0033764 biolink:NamedThing steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014157 biolink:NamedThing mandibular hypoplasia-deafness-progeroid syndrome tmpte7i6ely_mondo_relaxed.owl MDPL|mandibular hypoplasia-hearing loss-progeroid syndrome|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|MDP syndrome|mandibular hypoplasia, deafness, progeroid features GARD:0010989|UMLS:C3715192|OMIM:615381|Orphanet:363649|ICD10:E34.8 owl:Class MONDO:0030057 biolink:NamedThing neurodevelopmental, jaw, eye, and digital syndrome tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME|neurodevelopmental, jaw, eye, and digital syndrome|NEDJED OMIM:618914 owl:Class MONDO:0018793 biolink:NamedThing primary condylar hyperplasia tmpte7i6ely_mondo_relaxed.owl type 1 condylar hyperplasia Orphanet:477781 owl:Class MONDO:0019583 biolink:NamedThing localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM. tmpte7i6ely_mondo_relaxed.owl ICD10:L98.5|Orphanet:90398 owl:Class MONDO:0017328 biolink:NamedThing non-central nervous system-localized embryonal carcinoma tmpte7i6ely_mondo_relaxed.owl non-CNS-localized embryonal carcinoma Orphanet:289362|UMLS:CN202968|ICD10:C22.7 owl:Class MONDO:0013295 biolink:NamedThing atopic dermatitis 9 An atopic dermatitis associated with variation in the region 3p24. tmpte7i6ely_mondo_relaxed.owl atopic dermatitis type 9|ATOD9|dermatitis, ATOPIC, 9 UMLS:C3150764|DOID:0110105|OMIM:613519 owl:Class MONDO:0013054 biolink:NamedThing microcephaly, growth retardation, cataract, hearing loss, and unusual appearance tmpte7i6ely_mondo_relaxed.owl microcephaly, growth retardation, cataract, hearing loss, and unusual appearance OMIM:612947|MESH:C567849|UMLS:C2751870 owl:Class MONDO:0009198 biolink:NamedThing congenital lethal erythroderma A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. tmpte7i6ely_mondo_relaxed.owl erythroderma lethal congenital|erythroderma, lethal congenital|lethal congenital erythroderma|congenital exfoliative erythroderma resistant to treatment Orphanet:1954|GARD:0002192|OMIM:227090|MESH:C535513|ICD10:Q82.8|SCTID:722391005 https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital owl:Class UBERON:0005652 biolink:NamedThing pedal digit 5 epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002164 biolink:NamedThing Nail dysplasia The presence of developmental dysplasia of the nail. tmpte7i6ely_mondo_relaxed.owl Dysplastic nails|Atypical nail growth|Onychodysplasia UMLS:C1834405 HP:0001793|HP:0008412|HP:0001794|HP:0001797|HP:0008409|HP:0008403|HP:0008387 human_phenotype owl:Class MONDO:0011356 biolink:NamedThing exostosis, Dupuytren subungual tmpte7i6ely_mondo_relaxed.owl subungual exostoses|exostosis, Dupuytren subungual|Dupuytren subungual exostosis GARD:0008280|MESH:C535723|OMIM:603656|UMLS:C1863622 https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis owl:Class CL:2000029 biolink:NamedThing central nervous system neuron Any neuron that is part of a central nervous system. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-25T01:17:43Z cell owl:Class HGNC:28303 biolink:NamedThing ODAD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032741 biolink:NamedThing neurodevelopmental disorder with impaired speech and hyperkinetic movements tmpte7i6ely_mondo_relaxed.owl NEDISHM|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS OMIM:618425 owl:Class MONDO:0008183 biolink:NamedThing annular pancreas Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. tmpte7i6ely_mondo_relaxed.owl pancreas, annular OMIM:167750|DOID:0060850|ICD10:Q45.1|UMLS:C0149955|MedDRA:10071757|Orphanet:675|NCIT:C98813|SCTID:40315008|GARD:0000705|MESH:C536376 https://rarediseases.info.nih.gov/diseases/705/annular-pancreas owl:Class FOODON:00002239 biolink:NamedThing shrimp food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012778 biolink:NamedThing celiac disease, susceptibility to, 9 tmpte7i6ely_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 9|celiac disease, susceptibility to, 9|CELIAC9 OMIM:612007 owl:Class MONDO:0044312 biolink:NamedThing immunoskeletal dysplasia with neurodevelopmental abnormalities tmpte7i6ely_mondo_relaxed.owl IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities|ISDNA OMIM:617425|UMLS:C4479452 owl:Class MONDO:0015814 biolink:NamedThing primary cutaneous follicle center lymphoma A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin. tmpte7i6ely_mondo_relaxed.owl Reticulohistiocytoma of the dorsum|cutaneous follicle centre lymphoma|PCFCL|Crosti's disease|cutaneous follicle center lymphoma UMLS:C1333171|NCIT:C7217|ICDO:9597/3|SCTID:404143002|Orphanet:178540|ICD10:C82.6|ONCOTREE:PCFCL owl:Class MONDO:0006740 biolink:NamedThing empty sella syndrome Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. tmpte7i6ely_mondo_relaxed.owl empty sella turcica|empty sella syndrome|empty sella MESH:D004652|UMLS:C0014008|MedDRA:10014567|SCTID:237722004|NCIT:C84686|EFO:1000914|GARD:0006331|DOID:3642|ICD9:253.8 https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome owl:Class MONDO:0008278 biolink:NamedThing juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome tmpte7i6ely_mondo_relaxed.owl JP/Hht syndrome|JPHT|juvenile polyposis with hereditary hemorrhagic telangiectasia|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|jPS/Hht Orphanet:2929|DOID:0111543|UMLS:C1832942|OMIM:175050|MESH:C563412 https://github.com/monarch-initiative/mondo/issues/3685 owl:Class OBI:0000684 biolink:NamedThing specimen collection objective A objective specification to obtain a material entity for potential use as an input during an investigation. tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000285 biolink:NamedThing smooth muscle cell of sigmoid colon A smooth muscle cell that is part of the sigmoid colon. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of sigmoid colon FMA:17521 cell owl:Class MONDO:0005639 biolink:NamedThing AIDS related complex A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids. tmpte7i6ely_mondo_relaxed.owl MESH:D000386|UMLS:C0001857|EFO:0007137 owl:Class MONDO:0004415 biolink:NamedThing lipid-cell variant infiltrating bladder urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, Lipid-cell variant UMLS:C1512738|NCIT:C39828|DOID:7967 owl:Class MONDO:0001183 biolink:NamedThing contact lens corneal edema tmpte7i6ely_mondo_relaxed.owl ICD9:371.24|SCTID:49362009|UMLS:C0474442|DOID:11034 owl:Class MONDO:0011233 biolink:NamedThing Axenfeld-Rieger syndrome type 3 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. tmpte7i6ely_mondo_relaxed.owl Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|anterior chamber cleavage syndrome|Axenfeld anomaly|Axenfeld-Rieger syndrome type 3|Axenfeld-Rieger anomaly|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|Rieger syndrome type 3|Rieger syndrome, type 3|RIEG3|anterior chamber Cleavage syndrome|Axenfeld-Rieger syndrome caused by mutation in FOXC1|FOXC1 Axenfeld-Rieger syndrome|anterior segment mesenchymal dysgenesis|Rieger anomaly OMIM:602482|Orphanet:98978|DOID:0110122|Orphanet:91483|ICD9:743.44|SCTID:22155002|Orphanet:782|ICD10:Q13.8 Editor note: check relationship to MONDO:0007138 owl:Class MONDO:0017235 biolink:NamedThing familial omphalocele syndrome with facial dysmorphism Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. tmpte7i6ely_mondo_relaxed.owl Orphanet:280403|UMLS:CN202726 owl:Class MONDO:0041752 biolink:NamedThing paucibacillary leprosy A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. tmpte7i6ely_mondo_relaxed.owl paucibacillary leprosy|tuberculoid leprosy SCTID:416483009 owl:Class MONDO:0009139 biolink:NamedThing dyssegmental dysplasia, Rolland-Desbuquois type tmpte7i6ely_mondo_relaxed.owl dyssegmental dysplasia Rolland-Desbuquois type|Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|Ddrd|dyssegmental dwarfism Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|dyssegmental dwarfism, Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type ICD10:Q77.7|Orphanet:156731|MESH:C537999|ICD9:756.59|SCTID:95243004|UMLS:C0432209|OMIM:224400|GARD:0009810 https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type owl:Class MONDO:0001395 biolink:NamedThing macular keratitis tmpte7i6ely_mondo_relaxed.owl DOID:11871|ICD9:370.22|ICD10:H16.11|SCTID:2853006|UMLS:C0155076 owl:Class MONDO:0001037 biolink:NamedThing ring corneal ulcer tmpte7i6ely_mondo_relaxed.owl DOID:10444|SCTID:111520007|UMLS:C0155068|ICD9:370.02|ICD10:H16.02 owl:Class MONDO:0009178 biolink:NamedThing epidermolysis bullosa dystrophica Neurotrophica tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa progressiva, recessive|epidermolysis bullosa with congenital deafness ICD9:757.39|SCTID:254176007|MESH:C562637|OMIM:226500 owl:Class MONDO:0018347 biolink:NamedThing severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome tmpte7i6ely_mondo_relaxed.owl severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability UMLS:CN226082|Orphanet:397933|ICD10:Q87.8 owl:Class HGNC:3694 biolink:NamedThing FGG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020398 biolink:NamedThing congenital mitral stenosis Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure. tmpte7i6ely_mondo_relaxed.owl hereditary mitral valve stenosis|congenital mitral valve stenosis|congenital mitral stenosis (disease)|congenital mitral stenosis congenital mitral stenosis (disease) Orphanet:99057|ICD10:Q23.2|ICD9:746.5|SCTID:82458004|GARD:0001496|HP:0011570 owl:Class MONDO:0014285 biolink:NamedThing congenital dyserythropoietic anemia type type 1B tmpte7i6ely_mondo_relaxed.owl anemia, congenital dyserythropoietic, type IB|CDAN1B|CDA, type IB|congenital dyserythropoietic anemia type type 1B OMIM:615631|DOID:0111397|Orphanet:98869|UMLS:C3810185 owl:Class HP:0000036 biolink:NamedThing Abnormal penis morphology Abnormality of the male external sex organ. tmpte7i6ely_mondo_relaxed.owl Abnormality of the penis UMLS:C4025896 human_phenotype owl:Class MONDO:0043358 biolink:NamedThing engraftment syndrome A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. tmpte7i6ely_mondo_relaxed.owl engraftment syndrome GARD:0011909|UMLS:C0919746|SCTID:426768001|NCIT:C63324 owl:Class MONDO:0007780 biolink:NamedThing hypertelorism, Teebi type Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. tmpte7i6ely_mondo_relaxed.owl Teebi syndrome|hypertelorism, Teebi type|Teebi hypertelorism syndrome|Brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, Teebi type 2022-05-01 GARD:0000957|UMLS:CN199596|ICD10:Q87.0|Orphanet:1519|OMIM:145420|UMLS:C0796179|SCTID:724284005 This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030639. MONDO:800025 Teebi hypertelorism syndrome 1 will be added as the more specific subclass. owl:Class UBERON:0004930 biolink:NamedThing submucosa of transverse colon tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:131604 biolink:NamedThing Mycoplasma genitalium metabolite Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium. tmpte7i6ely_mondo_relaxed.owl Mycoplasma genitalium metabolites owl:Class MONDO:0007180 biolink:NamedThing Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities tmpte7i6ely_mondo_relaxed.owl Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities|De Hauwere syndrome|iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness UMLS:C1862373|Orphanet:1831|OMIM:109120|MESH:C566234 owl:Class MONDO:0004493 biolink:NamedThing testicular yolk sac tumor, papillary pattern A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl papillary pattern testicular yolk sac tumor|testicular yolk sac tumor, papillary pattern UMLS:C1515310|DOID:8193|NCIT:C39928 owl:Class MONDO:0007246 biolink:NamedThing calcific aortic disease with immunologic abnormalities, familial tmpte7i6ely_mondo_relaxed.owl calcific aortic disease with immunologic abnormalities, familial OMIM:114065|MESH:C566182|UMLS:C1861974 owl:Class HGNC:430 biolink:NamedThing ALOX12B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017408 biolink:NamedThing rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. tmpte7i6ely_mondo_relaxed.owl rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|ROHHADNET|ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHAD NCIT:C121944|GARD:0010407|UMLS:C4053506|UMLS:CN203158|Orphanet:293987 owl:Class CHEBI:23114 biolink:NamedThing chloride salt tmpte7i6ely_mondo_relaxed.owl chlorides|chloride salts owl:Class MONDO:0022622 biolink:NamedThing CDG syndrome type 4 tmpte7i6ely_mondo_relaxed.owl GARD:0001174 https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4 owl:Class MONDO:0006044 biolink:NamedThing nephrosclerosis Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. tmpte7i6ely_mondo_relaxed.owl renal sclerosis ICD10:N26.9|ICD10:I12|EFO:1000041|ICD9:587|SCTID:32916005|UMLS:C0027719|GARD:0007179|DOID:11664|MESH:D009400 https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis owl:Class MONDO:0017268 biolink:NamedThing acral self-healing collodion baby Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities. tmpte7i6ely_mondo_relaxed.owl acral SHCB ICD10:Q80.2|SCTID:718633009|Orphanet:281127 owl:Class MONDO:0021652 biolink:NamedThing diffuse type adenocarcinoma An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl diffuse type carcinoma|diffuse type adenocarcinoma ICDO:8145/3|NCIT:C4127 owl:Class MONDO:0011209 biolink:NamedThing progeroid facial appearance with hand anomalies tmpte7i6ely_mondo_relaxed.owl progeroid facial appearance with hand anomalies MESH:C566563|UMLS:C1865699|OMIM:602249 owl:Class MONDO:0000669 biolink:NamedThing color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. tmpte7i6ely_mondo_relaxed.owl DOID:0060139 owl:Class MONDO:0023569 biolink:NamedThing Kozlowski Ouvrier syndrome tmpte7i6ely_mondo_relaxed.owl agenesis of the corpus callosum with intellectual disability and osseous lesions|agenesis of the corpus callosum with mental retardation and osseous lesions UMLS:C2931512|GARD:0003139|MESH:C537508 https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome owl:Class MONDO:0004108 biolink:NamedThing diaphragma sellae meningioma A meningioma that affects the diaphragma sellae. tmpte7i6ely_mondo_relaxed.owl meningioma of the diaphragm sellae|diaphragm sellae meningioma|meningioma (disease) of diaphragma sellae|diaphragma sellae meningioma (disease)|meningioma of Diaphragma sellae|meningioma of the Diaphragma sellae|meningioma of diaphragm sellae NCIT:C5283|DOID:7103|UMLS:C1333283 owl:Class MONDO:0011656 biolink:NamedThing paget disease of bone 4 tmpte7i6ely_mondo_relaxed.owl PDB4|Paget disease of bone 4 MESH:C565240|OMIM:606263|UMLS:C1853473 owl:Class MONDO:0002594 biolink:NamedThing monkeypox An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. tmpte7i6ely_mondo_relaxed.owl Monkeypox virus infection|infections, Monkeypox virus GARD:0010722|UMLS:C0276180|DOID:3292|NCIT:C128421|ICD10:B04|MESH:D045908|ICD9:059.01|SCTID:359814004|ICD9:136.8 https://rarediseases.info.nih.gov/diseases/10722/monkeypox owl:Class MONDO:0001686 biolink:NamedThing anatomical narrow angle borderline glaucoma tmpte7i6ely_mondo_relaxed.owl DOID:13327|ICD9:365.02 owl:Class MONDO:0004744 biolink:NamedThing borderline glaucoma tmpte7i6ely_mondo_relaxed.owl Preglaucoma SCTID:193531003|ICD10:H40.00|UMLS:C1533674|DOID:9283|ICD9:365.00 owl:Class SO:0002121 biolink:NamedThing vertebrate_immune_system_gene The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci). tmpte7i6ely_mondo_relaxed.owl immune_gene owl:Class MONDO:0015417 biolink:NamedThing Tessier number 6 facial cleft tmpte7i6ely_mondo_relaxed.owl Orphanet:141265|ICD10:Q18.8 owl:Class MONDO:0030522 biolink:NamedThing spermatogenic failure 64 tmpte7i6ely_mondo_relaxed.owl SPGF64 OMIM:619696 owl:Class MONDO:0003219 biolink:NamedThing gastroesophageal junction adenocarcinoma A carcinoma that arises from glandular epithelial cells of the esophagogastric junction. tmpte7i6ely_mondo_relaxed.owl gastroesophageal junction adenocarcinoma|adenocarcinoma - GEJ|adenocarcinoma of the gastroesophageal junction|adenocarcinoma of gastroesophageal junction|adenocarcinoma of the esophagogastric junction|adenocarcinoma of the GE junction|adenocarcinoma of the EG junction|esophagogastric adenocarcinoma|adenocarcinoma of the cardioesophageal junction|esophagogastric junction adenocarcinoma|adenocarcinoma of cardioesophageal junction DOID:4944|UMLS:C1332166|ONCOTREE:EGC|NCIT:C9296|ONCOTREE:GEJ owl:Class CHEBI:26820 biolink:NamedThing sulfates Salts and esters of sulfuric acid tmpte7i6ely_mondo_relaxed.owl sulfuric acid derivative|sulphates|sulfates owl:Class HGNC:24650 biolink:NamedThing EHMT1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002012 biolink:NamedThing Abnormality of the abdominal organs An abnormality of the viscera of the abdomen. tmpte7i6ely_mondo_relaxed.owl Gastrointestinal tract defects|Abnormality of the abdominal organs UMLS:C4021764 The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. human_phenotype owl:Class MONDO:0017627 biolink:NamedThing congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. tmpte7i6ely_mondo_relaxed.owl congenital hereditary facial paralysis with variable deafness|congenital hereditary facial paralysis-variable deafness syndrome|congenital hereditary facial palsy with variable deafness|congenital hereditary facial palsy with variable hearing loss OMIM:604185|SCTID:722389002|Orphanet:306530|ICD10:Q87.0|OMIM:614744 owl:Class MONDO:0000716 biolink:NamedThing agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. tmpte7i6ely_mondo_relaxed.owl ICD10:R48.8|DOID:0060223 owl:Class NCBITaxon:35792 biolink:NamedThing Rickettsia parkeri tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0015313 biolink:NamedThing choanal atresia, bilateral Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. tmpte7i6ely_mondo_relaxed.owl Orphanet:137920|ICD10:Q30.0|UMLS:CN199281 owl:Class GO:2001024 biolink:NamedThing negative regulation of response to drug Any process that stops, prevents or reduces the frequency, rate or extent of response to drug. tmpte7i6ely_mondo_relaxed.owl negative regulation of drug resistance|negative regulation of drug susceptibility/resistance owl:Class NCBITaxon:241806 biolink:NamedThing Polypodiopsida tmpte7i6ely_mondo_relaxed.owl ferns|Filicopsida|Moniliformopses PMID:21652310|GC_ID:1 NCBITaxon:3263|NCBITaxon:1204415|NCBITaxon:3290 ncbi_taxonomy owl:Class MONDO:0020548 biolink:NamedThing ocular pemphigoid Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease. tmpte7i6ely_mondo_relaxed.owl ICD10:H13.3*|SCTID:34250006|Orphanet:99922|MedDRA:10067776|ICD10:L12+ owl:Class HGNC:6125 biolink:NamedThing IRS1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004423 biolink:NamedThing iduronate-2-sulfatase activity Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. tmpte7i6ely_mondo_relaxed.owl sulfoiduronate sulfohydrolase activity|iduronate sulfate sulfatase activity|iduronate sulfatase activity|chondroitinsulfatase|L-iduronate 2-sulfate sulfatase activity|2-sulfo-L-iduronate 2-sulfatase activity|L-iduronosulfatase activity|idurono-2-sulfatase activity|iduronide-2-sulfate sulfatase activity|iduronate-2-sulfate sulfatase activity|L-iduronate-2-sulfate 2-sulfohydrolase activity|sulfo-L-iduronate sulfatase activity|L-idurono sulfate sulfatase activity|iduronate-2-sulphatase activity owl:Class MONDO:0043465 biolink:NamedThing achlorhydria Absence of hydrochloric acid in the gastric juice. tmpte7i6ely_mondo_relaxed.owl gastric anacidity|absent gastric acidity|achlorhydria|hypochlorhydria|achylia gastrica NCIT:C2850|SCTID:47481007|MESH:D000126 owl:Class MONDO:0032886 biolink:NamedThing Liang-Wang syndrome tmpte7i6ely_mondo_relaxed.owl LIWAS|LIANG-WANG SYNDROME OMIM:618729 owl:Class MONDO:0020505 biolink:NamedThing ravine syndrome Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. tmpte7i6ely_mondo_relaxed.owl progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome UMLS:CN207401|Orphanet:99852|ICD10:E75.2|UMLS:C4275006|SCTID:715794009 owl:Class MONDO:0024377 biolink:NamedThing circadian rhythm sleep disorder, delayed sleep phase type A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle. tmpte7i6ely_mondo_relaxed.owl delayed sleep phase syndrome|DSPD|sleep-wake schedule disorder, delayed phase|sleep wake schedule disorder, delayed phase type|DSPS|sleepwake schedule disorder, delayed phase SCTID:28011000119104|SCTID:80623000|UMLS:C0393770|DOID:0111141|ICD10:G47.21 owl:Class HGNC:2876 biolink:NamedThing DIAPH1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008446 biolink:NamedThing sperm protamine P4 tmpte7i6ely_mondo_relaxed.owl sperm protamine P4|PRM4 OMIM:182882 owl:Class MONDO:0043519 biolink:NamedThing burn A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. tmpte7i6ely_mondo_relaxed.owl burn|Burn|Burn(s) MESH:D002056|NCIT:C34441|SCTID:125666000|EFO:1001768 owl:Class MONDO:0018499 biolink:NamedThing double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy tmpte7i6ely_mondo_relaxed.owl DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy Orphanet:423712|ICD10:Q24.8 owl:Class MONDO:0007847 biolink:NamedThing keloid formation tmpte7i6ely_mondo_relaxed.owl keloid formation OMIM:148100 owl:Class ECTO:1000007 biolink:NamedThing exposure to high temperature environment A exposure event involving the interaction of an exposure receptor to high temperature environment. tmpte7i6ely_mondo_relaxed.owl high temperature environment exposure owl:Class MONDO:0004444 biolink:NamedThing bladder tubulo-cystic clear cell adenocarcinoma A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. tmpte7i6ely_mondo_relaxed.owl bladder tubulo-cystic clear cell adenocarcinoma DOID:8050|NCIT:C39847|UMLS:C1511203 owl:Class MONDO:0011083 biolink:NamedThing trichodental syndrome Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl TRICHODENTAL dysplasia|Tricho-dental syndrome|kersey syndrome|Tricho-dental dysplasia MESH:C536551|OMIM:601453|UMLS:C0406724|Orphanet:3351|SCTID:277810000|GARD:0000265 https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome owl:Class HGNC:7590 biolink:NamedThing MYLK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018448 biolink:NamedThing clear cell papillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. tmpte7i6ely_mondo_relaxed.owl ONCOTREE:CCPRC|UMLS:C4518333|Orphanet:404511|SCTID:734015000|ICD10:C64 owl:Class UBERON:0036523 biolink:NamedThing wall of vagina tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006212 biolink:NamedThing flat urothelial hyperplasia A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003 tmpte7i6ely_mondo_relaxed.owl flat urothelial hyperplasia EFO:1000259|NCIT:C27878 owl:Class HP:0002573 biolink:NamedThing Hematochezia The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. tmpte7i6ely_mondo_relaxed.owl Recurrent rectal bleeding|Rectal bleeding SNOMEDCT_US:236068001|UMLS:C0018932|SNOMEDCT_US:405729008|MSH:D006471 Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. HP:0002255|HP:0002609 human_phenotype owl:Class MONDO:0005576 biolink:NamedThing cryoglobulinemia Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. tmpte7i6ely_mondo_relaxed.owl Cryoimmunoglobulinaemia|cryoglobulinemia DOID:2917|EFO:0005846|ICD10:D89.1|MESH:D003449|GARD:0006217|NCIT:C26736|SCTID:30911005|ICD9:273.2|UMLS:C0010403 https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia owl:Class MONDO:0012470 biolink:NamedThing prostate cancer, hereditary, 7 tmpte7i6ely_mondo_relaxed.owl prostate cancer aggressiveness|prostate cancer, hereditary, 7|HPC7 MESH:C565201|OMIM:610321|UMLS:C1853195 owl:Class MONDO:0005302 biolink:NamedThing attention deficit hyperactivity disorder, inattentive type A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life. tmpte7i6ely_mondo_relaxed.owl attention deficit hyperactivity disorder, inattentive/distractible type|ADD|hyperkinetic disorder|ADHD|attention deficit disorder|attention deficit hyperactivity disorder, predominantly inattentive type OMIM:608906|OMIM:608904|OMIM:613003|EFO:0003888|OMIM:143465|NCIT:C35092|OMIM:612311|ICD9:314.9|OMIM:608905|OMIM:608903|OMIM:612312|ICD9:314.8|SCTID:406506008|ICD9:314.01|NCIT:C97160|MESH:D001289|DOID:1094 owl:Class MONDO:0020769 biolink:NamedThing Menke-Hennekam syndrome 2 tmpte7i6ely_mondo_relaxed.owl Menke-Hennekam syndrome 2|MKHK2 OMIM:618333 owl:Class MONDO:0002669 biolink:NamedThing ampullary signet ring cell adenocarcinoma An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells. tmpte7i6ely_mondo_relaxed.owl ampulla of Vater signet Ring cell carcinoma|ampullary signet Ring cell carcinoma|ampullary signet ring cell carcinoma DOID:3501|NCIT:C6656|UMLS:C1332249 owl:Class HP:0010995 biolink:NamedThing Abnormal circulating dicarboxylic acid concentration Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023606 A dicarboxylic acid is an oxoacid containing two carboxy groups. peter 2011-02-10T02:01:02Z human_phenotype owl:Class MONDO:0009802 biolink:NamedThing osteodysplasty, precocious, of Danks, Mayne, and Kozlowski tmpte7i6ely_mondo_relaxed.owl Danks Mayne Kozlowski precocious osteodysplasty|osteodysplasty, precocious, of Danks, Mayne, and Kozlowski|osteodysplasty precocious of Danks Mayne and Kozlowski GARD:0008662|MESH:C564922|OMIM:259270|UMLS:C1850185 https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski owl:Class MONDO:0017517 biolink:NamedThing brachydactyly of toes, unilateral tmpte7i6ely_mondo_relaxed.owl short toes, unilateral ICD10:Q72.8|Orphanet:295132 owl:Class MONDO:0000769 biolink:NamedThing chicken egg allergy An egg allergy triggered by Gallus gallus eggs. tmpte7i6ely_mondo_relaxed.owl Gallus gallus egg allergy DOID:0060492 owl:Class MONDO:0033259 biolink:NamedThing hearing loss, autosomal dominant 72 tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 72|DFNA72|deafness, autosomal dominant 72 DOID:0080268|Orphanet:90635|OMIM:617606 owl:Class MONDO:0030880 biolink:NamedThing mandibuloacral dysplasia progeroid syndrome tmpte7i6ely_mondo_relaxed.owl MDPS OMIM:619127 owl:Class NCBITaxon:12086 biolink:NamedThing Human poliovirus 3 tmpte7i6ely_mondo_relaxed.owl HPV-3|Poliovirus type 3|Human poliovirus type 3|Polio virus 3|Poliovirus 3 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032588 biolink:NamedThing periventricular nodular heterotopia 8 tmpte7i6ely_mondo_relaxed.owl PVNH8|PERIVENTRICULAR NODULAR HETEROTOPIA 8 OMIM:618185 owl:Class MONDO:0003800 biolink:NamedThing conventional malignant hemangiopericytoma A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity. tmpte7i6ely_mondo_relaxed.owl conventional malignant hemangiopericytoma DOID:6197|UMLS:C1333158|NCIT:C9425 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class NCBITaxon:11072 biolink:NamedThing Japanese encephalitis virus tmpte7i6ely_mondo_relaxed.owl Japanese encephalitis virus JE|Japanese encephalitis (JE) virus|Japanese encephalitis virus JEV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019887 biolink:NamedThing distal trisomy 16q Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. tmpte7i6ely_mondo_relaxed.owl trisomy 16qter|distal duplication 16q|telomeric duplication 16q|distal trisomy type 16q Orphanet:96106|ICD10:Q92.3|SCTID:764459008 owl:Class MONDO:0020349 biolink:NamedThing acute motor axonal neuropathy Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS). tmpte7i6ely_mondo_relaxed.owl acute pure motor Guillain-Barre syndrome|acute pure motor Guillain-Barré syndrome|AMAN|acute pure motor GBS UMLS:C3890941|SCTID:715770009|Orphanet:98918|ICD10:G61.0|UMLS:CN207196|NCIT:C116929 owl:Class GO:0001227 biolink:NamedThing DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. tmpte7i6ely_mondo_relaxed.owl distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific|RNA polymerase II transcriptional repressor activity, metal ion regulated core promoter proximal region sequence-specific binding|transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in negative regulation of transcription|RNA polymerase II transcriptional repressor activity, metal ion regulated proximal promoter sequence-specific DNA binding|transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding owl:Class MONDO:0017229 biolink:NamedThing distal monosomy 12p Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. tmpte7i6ely_mondo_relaxed.owl distal deletion 12p|12p13.33 microdeletion syndrome|distal monosomy type 12p|Del(12)(p13.33) Orphanet:280325|ICD10:Q93.5|UMLS:CN202714 owl:Class NCBITaxon:2732397 biolink:NamedThing Pararnavirae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001943 biolink:NamedThing Plasmodium malariae malaria Malaria resulting from infection by Plasmodium malariae. tmpte7i6ely_mondo_relaxed.owl malaria by Plasmodium malariae|quartan malaria SCTID:27618009|ICD10:B52|ICD10:B52.9|DOID:14324|UMLS:C0024536|ICD9:084.2|NCIT:C34799 owl:Class MONDO:0007409 biolink:NamedThing cryptomicrotia-brachydactyly-excess fingertip arch syndrome Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988. tmpte7i6ely_mondo_relaxed.owl Cryptomicrotia-brachydactyly syndrome|Tonoki-Ohura-Niikawa syndrome|Tonoki Ohura Niikawa syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|CRYPTOMICROTIA-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch GARD:0008174|Orphanet:1547|ICD10:Q87.8|OMIM:123560|SCTID:725096002|MESH:C536219|UMLS:C1852454 owl:Class MONDO:0041656 biolink:NamedThing ST-elevation myocardial infarction A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG. tmpte7i6ely_mondo_relaxed.owl acute-ST segment elevation myocardial infarction|STEMI|ST segment elevation myocardial infarction EFO:0008585|SCTID:401303003 owl:Class NCBITaxon:5738 biolink:NamedThing Diplomonadida tmpte7i6ely_mondo_relaxed.owl diplomonads GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:207245 biolink:NamedThing Fornicata tmpte7i6ely_mondo_relaxed.owl Diplomonadida group GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032740 biolink:NamedThing hearing loss, autosomal recessive 100 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 100|DFNB100 OMIM:618422|DOID:0111638 owl:Class MONDO:0042972 biolink:NamedThing meningococcemia tmpte7i6ely_mondo_relaxed.owl meningococcemia|meningococcal septicemia SCTID:4089001|UMLS:C0025306|MEDGEN:6300|GARD:0003472|ICD9:036.2 owl:Class MONDO:0032641 biolink:NamedThing mirror movements 4 tmpte7i6ely_mondo_relaxed.owl MIRROR MOVEMENTS 4|MRMV4 OMIM:618264 owl:Class MONDO:0004224 biolink:NamedThing chronic metabolic polyneuropathy tmpte7i6ely_mondo_relaxed.owl chronic metabolic polyneuropathy UMLS:C1333042|NCIT:C35602|DOID:7441 owl:Class MONDO:0020390 biolink:NamedThing pulmonary artery coming from patent ductus arteriosus tmpte7i6ely_mondo_relaxed.owl Orphanet:99049|ICD10:Q25.7 owl:Class MONDO:0000676 biolink:NamedThing phonagnosia An agnosia that is a loss of the ability to recognize familiar voices. tmpte7i6ely_mondo_relaxed.owl DOID:0060146 owl:Class UBERON:0035014 biolink:NamedThing functional part of brain tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0010468 biolink:NamedThing Aplasia/Hypoplasia of the testes Absence or underdevelopment of the testes. tmpte7i6ely_mondo_relaxed.owl Absent/underdeveloped testes|Absent/small testes UMLS:C4023817 peter 2009-09-15T09:28:46Z human_phenotype owl:Class MONDO:0015907 biolink:NamedThing epimetaphyseal skeletal dysplasia tmpte7i6ely_mondo_relaxed.owl GARD:0002176|ICD10:Q77.8|Orphanet:1819 https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia owl:Class MONDO:0016183 biolink:NamedThing qualitative or quantitative defects of protein glycosyltransferase-like tmpte7i6ely_mondo_relaxed.owl Orphanet:209027 owl:Class HGNC:286 biolink:NamedThing ADRB2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004502 biolink:NamedThing skeletal muscle tissue of biceps brachii tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007579 biolink:NamedThing esterase C tmpte7i6ely_mondo_relaxed.owl esterase type C|ESC|esterase C OMIM:133270 Editor note: consider obsoleting owl:Class MONDO:0016699 biolink:NamedThing myxopapillary ependymoma Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. tmpte7i6ely_mondo_relaxed.owl ependymoma, benign|myxopapillary ependymoma (morphologic abnormality)|myxopapillary ependymoma UMLS:C0205769|ICD10:D43.2|GARD:0010633|NCIT:C3697|ONCOTREE:MPE|DOID:5075|MESH:D004806|Orphanet:251643|ICDO:9394/1 https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma owl:Class MONDO:0004594 biolink:NamedThing puerperal pulmonary embolism tmpte7i6ely_mondo_relaxed.owl ICD9:673|ICD10:O88.21|ICD10:O88.23|ICD9:673.80|ICD9:673.81|DOID:8512|SCTID:200284000 owl:Class MONDO:0021856 biolink:NamedThing Alsing syndrome An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. tmpte7i6ely_mondo_relaxed.owl atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality GARD:0009213|MESH:C536588|UMLS:C2931255 https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome owl:Class NCBITaxon:10319 biolink:NamedThing Varicellovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0025449 biolink:NamedThing paratuberculosis A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis. tmpte7i6ely_mondo_relaxed.owl Johne disease|disease, Johne|Johne's disease|disease, Johne's|Paratuberculoses|Johnes disease UMLS:C0030524|MESH:D010283 owl:Class NCBITaxon:5600 biolink:NamedThing Phialophora tmpte7i6ely_mondo_relaxed.owl Phialophora GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012780 biolink:NamedThing celiac disease, susceptibility to, 11 tmpte7i6ely_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 11|celiac disease, susceptibility to, 11|CELIAC11 OMIM:612009 owl:Class CHEBI:33662 biolink:NamedThing annulene A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms. tmpte7i6ely_mondo_relaxed.owl annulenes|annulene owl:Class HGNC:3257 biolink:NamedThing EIF2B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007862 biolink:NamedThing Waardenburg syndrome type 3 Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome type III|Waardenburg syndrome with upper limb anomalies|White forelock (poliosis) syndrome with multiple congenital malformations|Waardenburg syndrome with limb anomalies|Klein-Waardenburg syndrome|WS3|Waardenburg syndrome, type 3 OMIM:148820|DOID:0110949|Orphanet:3440|GARD:0005523|ICD10:E70.3|Orphanet:896 https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 owl:Class MONDO:0012229 biolink:NamedThing myopia 9 tmpte7i6ely_mondo_relaxed.owl MYP9|myopia 9 UMLS:C1836504|MESH:C563759|OMIM:609258 owl:Class MONDO:0012307 biolink:NamedThing familial scaphocephaly syndrome, McGillivray type Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. tmpte7i6ely_mondo_relaxed.owl scaphocephaly, maxillary retrusion, and intellectual disability|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome|scaphocephaly, maxillary retrusion, and mental retardation UMLS:C1865070|MESH:C566511|OMIM:609579|Orphanet:168624|ICD10:Q87.0 owl:Class CL:0012000 biolink:NamedThing astrocyte of the forebrain An astrocyte of the forebrain. tmpte7i6ely_mondo_relaxed.owl forebrain astrocyte tberardini cell owl:Class MONDO:0011069 biolink:NamedThing cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction tmpte7i6ely_mondo_relaxed.owl cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction|cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction|Frydman Cohen Ashkenazi syndrome MESH:C538072|GARD:0001227|OMIM:601389|UMLS:C1832391 https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction owl:Class MONDO:0009707 biolink:NamedThing myopathy with giant abnormal mitochondria tmpte7i6ely_mondo_relaxed.owl myopathy with giant abnormal mitochondria MESH:C564971|UMLS:C1850717|OMIM:255140 owl:Class MONDO:0003428 biolink:NamedThing brain hemangioma A hemangioma arising from the brain. tmpte7i6ely_mondo_relaxed.owl brain angioma|brain hemangioma NCIT:C7739|DOID:5393|UMLS:C0238814 owl:Class MONDO:0015200 biolink:NamedThing anisakiasis Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. tmpte7i6ely_mondo_relaxed.owl Anisakis infection|infection by Anisakis larva|Anisakis simplex infection|Pseudoterranova infection|infections, Anisakis simplex|Anisakiases DOID:7033|ICD9:127.1|MedDRA:10002533|GARD:0000693|MESH:D017129|Orphanet:1070|EFO:0007146|ICD10:B81.0|NCIT:C128393|SCTID:442652006|UMLS:C0162576 https://rarediseases.info.nih.gov/diseases/693/anisakiasis owl:Class HGNC:6938 biolink:NamedThing CHST6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:428 biolink:NamedThing ALMS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018046 biolink:NamedThing thrombocytopenia-robin sequence syndrome tmpte7i6ely_mondo_relaxed.owl congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock-Carey syndrome|thrombocytopenia Robin sequence|Braddock Carey syndrome GARD:0005193|Orphanet:3323|MESH:C536898|UMLS:C2931364 owl:Class HP:0000853 biolink:NamedThing Goiter An enlargement of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl Goitre|Thyroid goitre|Thyroid goiter|Enlarged thyroid gland in neck UMLS:C0018021|MSH:D006042|SNOMEDCT_US:3716002 human_phenotype owl:Class MONDO:0004301 biolink:NamedThing fibrosarcomatous osteosarcoma A conventional osteosarcoma characterized by the presence of spindle shaped cells. tmpte7i6ely_mondo_relaxed.owl fibroblastic osteogenic sarcoma|fibrosarcomatous osteosarcoma|FIOS|fibrosarcomatous osteogenic sarcoma|fibroblastic osteosarcoma (morphologic abnormality)|fibroblastic osteosarcoma ONCOTREE:FIOS|UMLS:C0279602|DOID:7603|NCIT:C4020|ICDO:9182/3 owl:Class MONDO:0007178 biolink:NamedThing aurocephalosyndactyly tmpte7i6ely_mondo_relaxed.owl aurocephalosyndactyly|Kurczynski-Casperson syndrome|aural cephalosyndactyly|Auralcephalosyndactyly MESH:C566235|Orphanet:1219|UMLS:C1862380|OMIM:109050|GARD:0009218 owl:Class HGNC:4824 biolink:NamedThing HBA2 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002156 biolink:NamedThing Homocystinuria An increased concentration of homocystine in the urine. tmpte7i6ely_mondo_relaxed.owl High urine homocystine levels UMLS:C0019880|SNOMEDCT_US:11282001|MSH:D006712 Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. human_phenotype owl:Class MONDO:0004615 biolink:NamedThing upper gum cancer A cancer involving a gingiva of upper jaw. tmpte7i6ely_mondo_relaxed.owl malignant tumor of upper gingiva|malignant neoplasm of gingiva of upper jaw|gingiva of upper jaw cancer|cancer of gingiva of upper jaw|malignant tumour of upper gum|malignant gingiva of upper jaw neoplasm SCTID:363383000|DOID:8601|ICD10:C03.0|UMLS:C0153365|ICD9:143.0 owl:Class MONDO:0014173 biolink:NamedThing microcephaly 11, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. tmpte7i6ely_mondo_relaxed.owl microcephaly 11, primary, autosomal recessive|MCPH11|autosomal recessive primary microcephaly caused by mutation in PHC1|PHC1 autosomal recessive primary microcephaly OMIM:615414|DOID:0070287|UMLS:C3809431 owl:Class HGNC:4702 biolink:NamedThing GYPA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012831 biolink:NamedThing inflammatory bowel disease 13 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease caused by mutation in ABCB1|inflammatory bowel disease type 13|ABCB1 inflammatory bowel disease|IBD13|inflammatory bowel disease 13 OMIM:612244|DOID:0110893|UMLS:C2677101|MESH:C567384 owl:Class MONDO:0019582 biolink:NamedThing self-healing papular mucinosis Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness. tmpte7i6ely_mondo_relaxed.owl ICD10:L98.5|Orphanet:90397 owl:Class MONDO:0022887 biolink:NamedThing craniofrontonasal syndrome Teebi type tmpte7i6ely_mondo_relaxed.owl GARD:0001579 https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type owl:Class MONDO:0009175 biolink:NamedThing eosinophilic fasciitis Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. tmpte7i6ely_mondo_relaxed.owl eosinophilic fasciitis|diffuse fasciitis with eosinophilia|Shulman syndrome|eosinophilic fasciitis (disease)|EF eosinophilic fasciitis (disease) ICD10:M35.4|UMLS:C0264005|GARD:0006351|SCTID:24129002|MedDRA:10014954|HP:0045029|ICD9:728.89|NCIT:C112116|Orphanet:3165|OMIM:226350 owl:Class MONDO:0032815 biolink:NamedThing mitochondrial DNA depletion syndrome 17 tmpte7i6ely_mondo_relaxed.owl MITOCHONDRIAL DNA DEPLETION SYNDROME 17|MTDPS17 OMIM:618567 owl:Class GO:0005766 biolink:NamedThing primary lysosome A lysosome before it has fused with a vesicle or vacuole. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015294 biolink:NamedThing nephrogenic systemic fibrosis Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. tmpte7i6ely_mondo_relaxed.owl nephrogenic fibrosing dermopathy|NSF|NFD NCIT:C84920|MedDRA:10067467|UMLS:C1619692|GARD:0009725|UMLS:C3888044|EFO:1001814|SCTID:424114000|ICD9:588.89|Orphanet:137617|MESH:D054989 https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis owl:Class HP:0010316 biolink:NamedThing Ebstein anomaly of the tricuspid valve Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. tmpte7i6ely_mondo_relaxed.owl Ebstein's malformation|Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve UMLS:C0013481|EPCC:06.01.34|SNOMEDCT_US:204357006|MSH:D004437|ICD-10:Q22.5 Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. peter 2009-07-14T11:12:07Z HP:0006674 human_phenotype owl:Class MONDO:0004234 biolink:NamedThing chronic lymphoproliferative disorder of NK-cells An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. tmpte7i6ely_mondo_relaxed.owl chronic NK lymphocytosis|indolent large granular NK-cell lymphoproliferative disorder|CNKL|NK-LGLL|chronic lymphoproliferative disorder of natural killer cells|NK-cell lineage granular lymphocyte proliferative disorder|CLPD-NK|NK-type lymphoproliferative disorder of granular lymphocytes|indolent NK-cell lymphoproliferative disorder|chronic NK-large granular lymphocyte lymphoproliferative disorder|natural killer-cell large granular lymphocyte leukemia|NK-LGL leukemia|chronic lymphoproliferative disorder of NK-cells|chronic NK-cell lymphocytosis|NK-cell large granular lymphocyte lymphocytosis|chronic NK-LGL lymphoproliferative disorder DOID:7465|UMLS:C1512709|SCTID:722955006|NCIT:C39591|ICDO:9831/3|Orphanet:512017 owl:Class NBO:0000433 biolink:NamedThing withdrawal reflex "A reflex where the body reacts to pain or unpleasant stimuli by trying to move itself away from the source." [NBO:GVG] tmpte7i6ely_mondo_relaxed.owl nociceptive reflex|flexor withdrawal reflex owl:Class UBERON:0006833 biolink:NamedThing lumen of trachea tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003575 biolink:NamedThing comedocarcinoma A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. tmpte7i6ely_mondo_relaxed.owl Comedocarcinoma|comedo carcinoma DOID:5670|UMLS:C0334370|NCIT:C4188|ICDO:8501/3 Editor note: The DO class may refer to a different entity owl:Class HGNC:12382 biolink:NamedThing TSPYL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009306 biolink:NamedThing combined immunodeficiency with skin granulomas tmpte7i6ely_mondo_relaxed.owl combined immunodeficiency due to RAG 1/2 deficiency|CCHIDG|combined cellular and humoral immune defects with granulomas|CID due to RAG 1/2 deficiency UMLS:C2673536|Orphanet:157949|ICD10:D81.1|MESH:C567115|OMIM:233650 owl:Class MONDO:0019778 biolink:NamedThing Smith-Fineman-Myers syndrome Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpte7i6ely_mondo_relaxed.owl mental retardation Smith Fineman Myers type|Smith Fineman Myers syndrome|intellectual disability Smith Fineman Myers type Orphanet:93974|SCTID:719212004|OMIM:309580|UMLS:C0796159|MESH:C537445|GARD:0003521 owl:Class MONDO:0008063 biolink:NamedThing nasal alar collapse, bilateral tmpte7i6ely_mondo_relaxed.owl nasal alar collapse, bilateral OMIM:161470|UMLS:C1834371|MESH:C563533 owl:Class MONDO:0032881 biolink:NamedThing premature ovarian failure 16 tmpte7i6ely_mondo_relaxed.owl POF16|PREMATURE OVARIAN FAILURE 16 OMIM:618723 owl:Class MONDO:0000809 biolink:NamedThing purpura fulminans A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation. tmpte7i6ely_mondo_relaxed.owl purpura gangrenosa|fibrinolytic purpura SCTID:13507004|MESH:D055665|EFO:1001913|ICD10:D65|DOID:0060538 owl:Class MONDO:0003848 biolink:NamedThing ectopic thymus A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution. tmpte7i6ely_mondo_relaxed.owl ectopic thymus DOID:6307|NCIT:C27804|UMLS:C1333375 owl:Class MONDO:0016062 biolink:NamedThing median cleft lip/mandibule Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification. tmpte7i6ely_mondo_relaxed.owl median cleft lower facial stage ICD10:Q36.1|SCTID:723383005|Orphanet:2006 owl:Class PATO:0001555 biolink:NamedThing has number of The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. tmpte7i6ely_mondo_relaxed.owl number|mereological quality|has or lacks parts of type|number of|extra or missing physical or functional parts|cardinality owl:Class MONDO:0023091 biolink:NamedThing esophageal atresia coloboma talipes tmpte7i6ely_mondo_relaxed.owl GARD:0002196 https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes owl:Class MONDO:0011994 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 41 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 41|P2RX2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 41|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|DFNA41|autosomal dominant nonsyndromic deafness 41|autosomal dominant nonsyndromic deafness type 41|deafness, autosomal dominant type 41 DOID:0110567|OMIM:608224|MESH:C564272|ICD10:H90.3|UMLS:C1842371 owl:Class MONDO:0019408 biolink:NamedThing Astley-Kendall dysplasia Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. tmpte7i6ely_mondo_relaxed.owl Astley-Kendall syndrome|short limbed dwarfism with extensive stippling UMLS:C1300228|SCTID:389263004|GARD:0009220|ICD10:Q77.3|Orphanet:85175|MESH:C535392 owl:Class NCIT:C43431 biolink:NamedThing Activity An active process; excludes processes and mechanisms which fulfill biological functions. tmpte7i6ely_mondo_relaxed.owl Activity|General activity owl:Class MONDO:0008341 biolink:NamedThing ptosis-strabismus-ectopic pupils syndrome Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl McPherson-Hall syndrome|ptosis, strabismus, and ectopic pupils|ptosis strabismus ectopic pupils OMIM:178330|UMLS:C1867437|GARD:0004577|MESH:C566736|Orphanet:2999 owl:Class MONDO:0033555 biolink:NamedThing immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia tmpte7i6ely_mondo_relaxed.owl IMD73C|IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA OMIM:618987 owl:Class MONDO:0009448 biolink:NamedThing iminoglycinuria Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl iminoglycinuria ICD9:270.8|ICD10:E72.0|MESH:C536285|SCTID:84121007|OMIM:242600|Orphanet:42062|GARD:0008424|UMLS:C0268654 https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria owl:Class MONDO:0004570 biolink:NamedThing intestinal volvulus Twisting of a loop of bowel that results in intestinal obstruction. tmpte7i6ely_mondo_relaxed.owl twist of intestine, bowel, or colon|intestinal volvulus|volvulus ICD10:K56.2|EFO:1000989|NCIT:C98963|DOID:8445|ICD9:560.2|UMLS:C0042961|SCTID:9707006|MESH:D045822 owl:Class MONDO:0004607 biolink:NamedThing vallecula cancer A cancer involving a epiglottic vallecula. tmpte7i6ely_mondo_relaxed.owl epiglottic vallecula cancer|malignant epiglottic vallecula neoplasm|malignant neoplasm of epiglottic vallecula|malignant tumor of vallecula|cancer of epiglottic vallecula ICD9:146.3|DOID:8556|UMLS:C0153386|ICD10:C10.0|SCTID:363395000 owl:Class MONDO:0020418 biolink:NamedThing dysphagia lusoria tmpte7i6ely_mondo_relaxed.owl ICD10:Q25.4|ICD9:787.29|UMLS:C0267073|Orphanet:99082|SCTID:231719009 owl:Class HP:0000501 biolink:NamedThing Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. tmpte7i6ely_mondo_relaxed.owl MSH:D005901|UMLS:C0017601|SNOMEDCT_US:23986001 The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. human_phenotype owl:Class MONDO:0009185 biolink:NamedThing amelocerebrohypohidrotic syndrome Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. tmpte7i6ely_mondo_relaxed.owl epilepsy-dementia-amelogenesis imperfecta syndrome|Kohlschutter-Tonz syndrome|KTZS|KOHLSCHUTTER-Tonz syndrome|Kohlschutter syndrome|epilepsy dementia amelogenesis imperfecta|epilepsy and Yellow teeth|Kohlschutter Tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|amelocerebrohypohidrotic syndrome UMLS:C0406740|GARD:0003128|SCTID:109478007|OMIM:226750|MESH:C537213|ICD10:G40.8|DOID:0111668|Orphanet:1946 owl:Class MONDO:0013662 biolink:NamedThing Barrett esophagus Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) tmpte7i6ely_mondo_relaxed.owl Barrett's oesophagus|adenocarcinoma of esophagus|Barretts syndrome|columnar-lined esophagus|cello|Barrett's ulcer of esophagus|BE|columnar epithelial-lined Lower esophagus|ulcerative esophagitis|CLE|Barrett's esophagus|Barrett esophagus|Barrett metaplasia|Barrett's esophagus with esophagitis EFO:0000280|DOID:9206|OMIM:614266|ICD9:530.85|ICD10:K22.7|SCTID:196609006|Orphanet:99976|Orphanet:1232|NCIT:C2891|MESH:D001471|ICD10:K22.70 owl:Class UBERON:0003687 biolink:NamedThing foramen magnum tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0035159 biolink:NamedThing entire surface of organism tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006984 biolink:NamedThing anatomical surface tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11244 biolink:NamedThing Pneumoviridae tmpte7i6ely_mondo_relaxed.owl Pneumovirinae GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:68525 biolink:NamedThing delta/epsilon subdivisions tmpte7i6ely_mondo_relaxed.owl PMID:11837318|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:803 biolink:NamedThing Bartonella quintana tmpte7i6ely_mondo_relaxed.owl Rickettsia pediculi|Rochalimaea quintana|Rickettsia wolhynica|Burnetia (Rocha-limae) wolhynica|Rickettsia weigli|Rickettsia quintana|Wolhynia qintanae PMID:8240958|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032660 biolink:NamedThing spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant tmpte7i6ely_mondo_relaxed.owl SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT|SMALED2B DOID:0070350|OMIM:618291 owl:Class MONDO:0012358 biolink:NamedThing leprosy, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl LPRS1|leprosy, susceptibility to, 1|leprosy, Paucibacillary type, susceptibility to, 1 OMIM:609888|Orphanet:548 owl:Class MONDO:0004893 biolink:NamedThing hypertropia Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye. tmpte7i6ely_mondo_relaxed.owl NCIT:C34716|SCTID:40608009|ICD10:H50.2|ICD9:378.31|UMLS:C0020575|DOID:9837 owl:Class UBERON:0005042 biolink:NamedThing inner epithelial layer of tympanic membrane tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019844 biolink:NamedThing pituitary hormone deficiency secondary to storage disease tmpte7i6ely_mondo_relaxed.owl UMLS:CN206788|Orphanet:95618 Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120 owl:Class MONDO:0015097 biolink:NamedThing aortic valve dysplasia tmpte7i6ely_mondo_relaxed.owl ICD10:Q23.0|ICD9:746.89|SCTID:253604004|Orphanet:101043 owl:Class MONDO:0004370 biolink:NamedThing sphenocavernous meningioma A meningioma that affects the sphenocavernous region. tmpte7i6ely_mondo_relaxed.owl DOID:7820|NCIT:C5313|UMLS:C1336036 owl:Class MONDO:0011709 biolink:NamedThing split hand-foot malformation 5 Split-hand/foot malformation mapped to chromosome 2q31. tmpte7i6ely_mondo_relaxed.owl SHFM5|split hand-foot malformation type 5|split-hand/foot malformation type 5|split-hand/foot malformation 5 ICD10:Q71.6|OMIM:606708|MESH:C564674|NCIT:C75002|Orphanet:2440|UMLS:C0265554|DOID:0090022|UMLS:C1847622 owl:Class HGNC:20330 biolink:NamedThing POMP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013547 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. tmpte7i6ely_mondo_relaxed.owl mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|MC5DN3|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E OMIM:614053|ICD10:E88.8|DOID:0060332|UMLS:C3279708|Orphanet:254913 owl:Class MONDO:0010242 biolink:NamedThing fetal akinesia syndrome, X-linked tmpte7i6ely_mondo_relaxed.owl polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures|fetal akinesia syndrome, X-linked|fetal akinesia syndrome X-linked|X-linked form of fetal akinesia syndrome Orphanet:994|UMLS:C1848171|MESH:C537921|OMIM:300073|GARD:0002293 https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked owl:Class MONDO:0017212 biolink:NamedThing paraneoplastic uveitis tmpte7i6ely_mondo_relaxed.owl Orphanet:279928 owl:Class MONDO:0019484 biolink:NamedThing hypothalamic hamartomas with gelastic seizures A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. tmpte7i6ely_mondo_relaxed.owl ICD10:G40.5|Orphanet:86906 owl:Class MONDO:0017554 biolink:NamedThing radio-ulnar synostosis, unilateral tmpte7i6ely_mondo_relaxed.owl radio-ulnar fusion, unilateral UMLS:CN203290|ICD10:Q74.0|Orphanet:295217 owl:Class UBERON:0019303 biolink:NamedThing occipital sulcus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008069 biolink:NamedThing necrotizing encephalomyelopathy, subacute, of Leigh, adult tmpte7i6ely_mondo_relaxed.owl Leigh syndrome, adult|necrotizing encephalomyelopathy, subacute, of Leigh, adult OMIM:161700|MESH:C563530|UMLS:C1834340|Orphanet:506 owl:Class HGNC:9359 biolink:NamedThing SLC26A5 tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0002072 biolink:NamedThing sequence_comparison A position or feature where two sequences have been compared. tmpte7i6ely_mondo_relaxed.owl sequence comparison|INSDC_note:sequence_comparison|INSDC_feature:misc_feature owl:Class MONDO:0018433 biolink:NamedThing acute myeloid leukemia with t(6;9)(p23;q34) Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. tmpte7i6ely_mondo_relaxed.owl AML with t(6;9)(p23;q34) ICD10:C92.0|Orphanet:402014 owl:Class OBO:MFOMD_0000013 biolink:NamedThing depressed mood episode A depressed mood episode is a pathological mental process characterised by persistent feelings of sadness, anxiety, guilt, anger, isolation or hopelessness and other negative valence emotions, disturbances in sleep and appetite, fatigue, loss of interest in usually enjoyable activities and morbid or suicidal ideation. tmpte7i6ely_mondo_relaxed.owl The criteria below are based on the formal DSM-IV criteria for a Major Depressive Episode. A diagnoses of major depressive episode requires that the patient has—over a two-week period—experienced five or more of the symptoms below, and these must be outside the patient's normal behaviour. Either depressed mood or decreased interest or pleasure must be one of the five (although both are frequently concomitant). Mood For the better part of nearly every day, the patient reports a depressed mood or appears depressed to others. The patient may state that he or she has been feeling sad, depressed, blue, empty, "down in the dumps," hopeless, etc. If the patient is in denial about these feelings, yet appears to be on the verge of tearfulness, manifests a depressed facial expression and disposition, or appears to be overly irritable, these may also indicate the presence of depressed mood. Some people may report physical complaints (i.e., aches, pains, headaches) rather than depressed mood, and physical symptoms without physical cause are sometimes indicators of depression. Anhedonia and loss of interest For most of nearly every day, interest or pleasure is markedly decreased in nearly all activities (noted by the patient or by others). People suffering with depression tend to lose interest in things they once found enjoyable. Activities are no longer enjoyable and there is often a loss of interest in or desire for sex. People who are depressed may say, "I just don't care anymore," or "nothing matters anymore." Friends and family of the depressed person may notice that he/she has withdrawn from friends, or has neglected or quit doing activities that were once a source of enjoyment. Change in eating, appetite, or weight Although not dieting, there is a marked loss or gain of weight (such as 5% in one month) or appetite is markedly decreased or increased nearly every day. Changes in appetite take on two manifestations: under- or over-eating. In the first instance, some people never feel hungry, can go long periods without wanting to eat, may forget to eat, or if they do eat a small amount of food may be sufficient. A reduction in weight is often associated with a melancholic type of depression. In the second instance, some people tend toward an increase in appetite and may gain significant amounts of weight. They may tend to crave certain types of food such as sweets or carbohydrates. People with seasonal affective disorder (SAD) often crave foods high in carbohydrates. Weight gain is often associated with atypical depression. Sleep Nearly every day the patient sleeps excessively, known as hypersomnia, or not enough, known as insomnia. Insomnia is the most common type of sleep disturbance for people who are clinically depressed. Having difficulty falling asleep at night is known as "initial" insomnia; waking in the middle of the night and being unable to go back to sleep as "middle insomnia", and; waking too early as "terminal insomnia". Insomnia is often associated with a melancholic type of depression. A less frequent sleeping problem is oversleeping (called "hypersomnia"). This may occur in the form of sleeping for prolonged periods at night or increased sleeping during the daytime. Even with excess sleep, a person may still feel tired and sluggish during the day. People with seasonal affective disorder (SAD) may sleep longer during the winter months. Hypersomnia is often associated with an atypical depression. Motor activity Nearly every day others can see that the patient's activity is agitated or slow. People suffering from depression may be either quite agitated (psychomotor agitation), or very lethargic (psychomotor retardation) in their mannerisms and behavior. If a person is agitated, he or she may find it difficult to sit still, may pace the room, wring his/her hands, or fidget with clothes or objects. Someone with psychomotor retardation tends to move sluggishly, may move across a room very slowly, avert his/her eyes, sit slumped in a chair and speak slowly, saying little. In terms of diagnosis, the agitation or slowing down of one's demeanor must be to the degree that it can be observed by others. Fatigue Nearly every day the person experiences extreme fatigue.[3] A decrease in energy and feeling fatigued are very common symptoms for those who are clinically depressed. A person may feel tired without having engaged in any physical activity, and day-to-day tasks become difficult, including getting washed and dressed in the morning. Job tasks or housework become very tiring, and the person finds that his/her work at home, school, or on the job suffers.[4] Self-worth Nearly every day the patient feels worthless or inappropriately guilty. These feelings are not just about being depressed, they may be delusional. Depressed people may think of themselves in very negative, unrealistic ways such as manifesting a preoccupation with past "failures", personalisation of trivial events, or believing that minor mistakes prove their inadequacy. They also may have an unrealistic sense of personal responsibility and see things beyond their control as being their fault. Additionally, self-loathing is common in clinical depression, and can lead to a downward spiral when combined with other symptoms. Concentration Noted by the patient or by others, nearly every day the patient is indecisive or has trouble thinking or concentrating. A person with depression frequently experiences negative and pessimistic thoughts, and reports that his/her ability to think, concentrate, or make decisions becomes impaired. Memory and distraction problems are common. This problem can be notably pronounced, causing significant difficulty in functioning for those involved in intellectually demanding activities. Thoughts of death The patient has had repeated thoughts about death (other than the fear of dying), suicide (with or without a plan) or has made a suicide attempt. The frequency and intensity of thoughts about suicide can range from believing that friends and family would be better off if one were dead, to frequent thoughts about committing suicide (generally related to wishing to stop the emotional pain), to detailed plans about how the suicide would be carried out. Less severely suicidal people may have regular thoughts of suicide, while those who are more severely suicidal may have made specific plans and decided upon a day and location for the suicide attempt. Thoughts of suicide occur mostly when triggered. Thoughts of suicide happen more frequently than normal. Diagnostic caveats In diagnosing the symptoms a trained therapist must take the following into account: These symptoms must cause clinically important distress, or impair work, social or personal functioning, and they should not fulfil the criteria for Mixed Episode. The symptoms are not due to the direct physiological effects of a substance (e.g., abuse of a drug or medication) or a general medical condition (e.g., hypothyroidism). Other than in the case of severe symptoms (severely impaired functioning, severe preoccupation with worthlessness, ideas of suicide, delusions or hallucinations or psychomotor retardation), the episode should not have begun within two months of the loss of a loved one. [Wikipedia: http://en.wikipedia.org/wiki/Major_depressive_episode] owl:Class UBERON:0000326 biolink:NamedThing pancreatic juice tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017625 biolink:NamedThing familial primary hypomagnesemia with hypocalcuria tmpte7i6ely_mondo_relaxed.owl Orphanet:306519|UMLS:CN227163|SCTID:711151004 owl:Class MONDO:0013089 biolink:NamedThing schizophrenia 13 A schizophrenia that has material basis in a mutation on chromosome 15q13. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 15Q13-q14-related|schizophrenia, Neurophysiologic defect 1N|SCZD13|schizophrenia 13 DOID:0070089|UMLS:C2751663|OMIM:613025 owl:Class MONDO:0023038 biolink:NamedThing eccentrochondrodysplasia tmpte7i6ely_mondo_relaxed.owl UMLS:C0026707|GARD:0006314 https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia owl:Class MONDO:0008578 biolink:NamedThing toe, rotated fifth tmpte7i6ely_mondo_relaxed.owl toe, rotated fifth OMIM:189150 owl:Class MONDO:0018090 biolink:NamedThing double outlet left ventricle Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle. tmpte7i6ely_mondo_relaxed.owl Double outlet left ventricle|double outlet left ventricle (disease)|DOLV double outlet left ventricle (disease) HP:0011581|GARD:0001907|SCTID:7368005|Orphanet:3427|ICD9:745.19|ICD10:Q20.2 owl:Class MONDO:0007427 biolink:NamedThing deafness with anhidrotic ectodermal dysplasia tmpte7i6ely_mondo_relaxed.owl deafness with anhidrotic ectodermal dysplasia UMLS:C1852279|OMIM:125050|MESH:C565119 owl:Class MONDO:0016304 biolink:NamedThing classic pantothenate kinase-associated neurodegeneration tmpte7i6ely_mondo_relaxed.owl neurodegeneration with brain iron accumulation type 1, classic form|NBIA1, classic form|PKAN, classic form Orphanet:216866|UMLS:CN201109|ICD10:G23.0 owl:Class HP:0040195 biolink:NamedThing Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. tmpte7i6ely_mondo_relaxed.owl Decreased head circumference UMLS:C0424688|SNOMEDCT_US:271611007 Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. human_phenotype owl:Class MONDO:0008807 biolink:NamedThing apnea, central sleep tmpte7i6ely_mondo_relaxed.owl sleep apnea, lethal central|apnea, central sleep OMIM:207720|UMLS:C0520680|OMIM:107640 See https://github.com/monarch-initiative/mondo/issues/46 owl:Class MONDO:0003306 biolink:NamedThing atypical neurofibroma A neurofibroma characterized by the presence of cellular pleomorphism. tmpte7i6ely_mondo_relaxed.owl atypical neurofibroma DOID:5153|UMLS:C1510961|NCIT:C41426 owl:Class MONDO:0042980 biolink:NamedThing Westphal disease tmpte7i6ely_mondo_relaxed.owl Westphal disease|Westphal variant of Huntington's disease|HD- Westphal variant GTR:AN0099345|MESH:C536694|GTR:AN0099344|GTR:AN0099343|UMLS:C1279186|SCTID:182747006|GARD:0005557|MEDGEN:224821 owl:Class NCBITaxon:5550 biolink:NamedThing Trichophyton tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009776 biolink:NamedThing spermatogenic failure 1 tmpte7i6ely_mondo_relaxed.owl SPGF1|spermatogenic failure 1|Oligochiasmatic infertility|Oligosynaptic infertility UMLS:C0403810|SCTID:236803007|DOID:0070188|MESH:C562902|OMIM:258150 owl:Class PO:0025338 biolink:NamedThing collective plant organ structure development stage A plant structure development stage (PO:0009012) that has as primary participant a collective plant structure (PO:0025497). tmpte7i6ely_mondo_relaxed.owl 集合的植物構造の発生過程 (Japanese, exact)|etapa de desarrollo de una estructura colectiva de la planta (Spanish, exact) PO_GIT:391 Includes flower development stage (PO:0007615), corolla development stage (PO:0007604), and inflorescence development stage (PO:0001083). rwalls 2011-10-19T11:12:49Z plant_structure_development_stage owl:Class MONDO:0004098 biolink:NamedThing malignant melanocytic peripheral nerve sheath tumor of mediastinum A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin. tmpte7i6ely_mondo_relaxed.owl malignant mediastinal melanocytic peripheral nerve sheath tumor|mediastinal melanocytic MPNST|mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|malignant melanocytic peripheral nerve sheath tumor of mediastinum|malignant melanotic peripheral nerve sheath tumor of the mediastinum DOID:7077|NCIT:C6630|UMLS:C1334600 owl:Class MONDO:0001261 biolink:NamedThing Mobitz type II atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) tmpte7i6ely_mondo_relaxed.owl type II second degree AV block|Mobitz (type) II atrioventricular block|Möbitz type II second degree AV block|Mobitz type II second degree AV block|Mobitz II|type II second degree atrioventricular block|type 2 2nd degree AV block|AV block second degree Mobitz type II|Möbitz II|second degree atrioventricular block Mobitz type II|second degree atrioventricular block Möbitz type II|AV block second degree Möbitz type II|Mobitz II atrioventricular block|type 2 second degree AV block ICD9:426.12|DOID:11312|NCIT:C62018|UMLS:C0155700|SCTID:28189009 owl:Class UBERON:0002011 biolink:NamedThing thoracodorsal artery tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017900 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpte7i6ely_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2|MSMD due to complete IFNgammaR2 deficiency|MSMD due to complete interferon gamma receptor 2 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency UMLS:CN203956|ICD10:D84.8|Orphanet:319547|OMIM:614889 owl:Class MONDO:0011893 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 52 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 52|DFNA52|autosomal dominant deafness 52|autosomal dominant nonsyndromic deafness 52|autosomal dominant nonsyndromic deafness type 52|deafness, autosomal dominant 42 ICD10:H90.3|DOID:0110578|UMLS:C1843232|Orphanet:90635|OMIM:607683|MESH:C564348 owl:Class MONDO:0006880 biolink:NamedThing oral leukoedema A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl leukedema of mouth UMLS:C0023523|MESH:D007967|SCTID:67795000|MedDRA:10057365|EFO:1001075|ICD9:528.79|DOID:4557 owl:Class ENVO:01000804 biolink:NamedThing astronomical object An object which is composed of one or more gravitationally bound structures that are associated with a position in space. tmpte7i6ely_mondo_relaxed.owl celestial object owl:Class MONDO:0032816 biolink:NamedThing neurodevelopmental disorder with ataxia, hypotonia, and microcephaly tmpte7i6ely_mondo_relaxed.owl NEDAHM|NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY OMIM:618569 owl:Class HP:0002748 biolink:NamedThing Rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. tmpte7i6ely_mondo_relaxed.owl Weak and soft bones SNOMEDCT_US:41345002|MSH:D012279|UMLS:C0035579 human_phenotype owl:Class MONDO:0033262 biolink:NamedThing nephrotic syndrome 15 tmpte7i6ely_mondo_relaxed.owl nephrotic syndrome 15|nephrotic syndrome, type 15|NPHS15 UMLS:CN388854|OMIM:617609|DOID:0080271 owl:Class MONDO:0005880 biolink:NamedThing oesophagostomiasis Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. tmpte7i6ely_mondo_relaxed.owl infection by Oesophagostomum|Oesophagostomum disease or disorder|Oesophagostomum infectious disease|Oesophagostomum caused disease or disorder EFO:0007400|UMLS:C0028887|MESH:D009814|DOID:3983|ICD9:127.7|SCTID:22500005 owl:Class MONDO:0006604 biolink:NamedThing rosacea A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. tmpte7i6ely_mondo_relaxed.owl acne rosacea|acne roscea|acne, erythematosa DOID:8881|EFO:1000760|MESH:D012393|Wikipedia:Rosacea|ICD10:L71.9|UMLS:C0035854|ICD10:L71|ICD9:695.3|NCIT:C97136|SCTID:398909004 owl:Class MONDO:0043219 biolink:NamedThing migraine with brainstem aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. tmpte7i6ely_mondo_relaxed.owl Bickerstaff migraine|brainstem migraine|basilar artery migraine with aura|MBA|bickerstaff's migraine|basilar-type migraine|basilar artery migraine|basilar migraine|vertebrobasilar migraine SCTID:83351003|GARD:0005896|NCIT:C117013 owl:Class MONDO:0019445 biolink:NamedThing trichofolliculoma Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair. tmpte7i6ely_mondo_relaxed.owl NCIT:C4112|ICDO:8101/0|SCTID:274899008|GARD:0005263|Orphanet:864|MedDRA:10044611|MESH:C536553|UMLS:C0334262 https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma owl:Class HP:0008386 biolink:NamedThing Aplasia/Hypoplasia of the nails Aplasia or developmental hypoplasia of the nail. tmpte7i6ely_mondo_relaxed.owl Absent/underdeveloped nails|Absent/hypoplastic nails|Nail aplasia/hypoplasia|Absent/small nails UMLS:C1859077 HP:0008385 human_phenotype owl:Class MONDO:0017220 biolink:NamedThing laryngotracheoesophageal cleft type 0 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. tmpte7i6ely_mondo_relaxed.owl LTEC0|laryngo-tracheo-esophageal cleft type 0 UMLS:CN202702|Orphanet:280205|ICD10:Q32.1 owl:Class MONDO:0001227 biolink:NamedThing chronic tympanitis Chronic form of tympanitis. tmpte7i6ely_mondo_relaxed.owl tympanitis, chronic DOID:11217|UMLS:C0395849|ICD9:384.1|ICD10:H73.1|ICD10:H73.10|SCTID:89723004 owl:Class MONDO:0011387 biolink:NamedThing psoriasis 4, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS4|psoriasis 4, susceptibility to DOID:0111280|OMIM:603935 owl:Class MONDO:0003326 biolink:NamedThing intermixed schwannian stroma-rich ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules. tmpte7i6ely_mondo_relaxed.owl ganglioneuroblastoma, intermixed|ganglioneuroblastoma, intermixed (Schwannian Stroma-rich) NCIT:C42057|UMLS:C1517444|DOID:5194 owl:Class MONDO:0007123 biolink:NamedThing ankyloblepharon filiforme adnatum-cleft palate syndrome tmpte7i6ely_mondo_relaxed.owl ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme adnatum|AFA|congenital filiform fusion of the eyelids with cleft palate and/or cleft lip|ankyloblepharon filiforme congenitum|ankyloblepharon filiforme adnatum cleft palate MESH:C536373|Orphanet:1072|GARD:0000696|ICD10:Q87.0|UMLS:C1302999|OMIM:106250|SCTID:400952003 owl:Class MONDO:0004506 biolink:NamedThing microscopic breast papilloma A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic. tmpte7i6ely_mondo_relaxed.owl microscopic breast papilloma|peripheral breast papilloma UMLS:C1335390|NCIT:C36088|DOID:8225 owl:Class HGNC:4837 biolink:NamedThing HCCS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011940 biolink:NamedThing mycobacterium tuberculosis, susceptibility to tmpte7i6ely_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to infection by|mycobacterium tuberculosis, susceptibility to|Mycobacterium tuberculosis, protection against GARD:0002456|Orphanet:3389|MESH:C536092|OMIM:607948 Editor note: consider merge with parent. This OMIM ID seems to represent the whole series owl:Class MONDO:0020680 biolink:NamedThing acute bronchiolitis Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus. tmpte7i6ely_mondo_relaxed.owl acute capillary bronchiolitis|capillary pneumonia|acute bronchiolitis|acute Bronchiolitis|Capillary pneumonia NCIT:C39659|SCTID:5505005|ICD9:466.1|ICD9:466.19|UMLS:C0001311 owl:Class MONDO:0006387 biolink:NamedThing primary pulmonary diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis. tmpte7i6ely_mondo_relaxed.owl primary pulmonary diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of lung|high grade MALT lymphoma of the lung|lung diffuse large B-cell lymphoma|pulmonary diffuse large B-cell lymphoma EFO:1000495|UMLS:C1709666|NCIT:C45605 owl:Class HGNC:19261 biolink:NamedThing MTO1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007760 biolink:NamedThing hyperlipoproteinemia, type II, and deafness tmpte7i6ely_mondo_relaxed.owl hyperlipoproteinemia, type II, and deafness OMIM:144300|UMLS:C1840425|MESH:C564170 owl:Class MONDO:0001844 biolink:NamedThing uterine corpus myxoid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. tmpte7i6ely_mondo_relaxed.owl NCIT:C40166|UMLS:C1519860|DOID:13956 owl:Class MONDO:0054724 biolink:NamedThing spermatogenic failure 20 tmpte7i6ely_mondo_relaxed.owl SPGF20|spermatogenic failure 20 OMIM:617593|DOID:0070166 owl:Class UBERON:0005855 biolink:NamedThing lumbar spinal cord ventral column tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021035 biolink:NamedThing alopecia-intellectual disability syndrome 1 tmpte7i6ely_mondo_relaxed.owl alopecia-intellectual disability syndrome 1|APMR1|alopecia-mental retardation syndrome 1|APMR DOID:0080628|UMLS:C1859878|OMIM:203650 owl:Class MONDO:0010090 biolink:NamedThing Summitt syndrome Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome. tmpte7i6ely_mondo_relaxed.owl Summitt syndrome|Summitt's acrocephalosyndactyly|recessive acrocephalosyndactyly with normal intelligence GARD:0000127|MESH:C538142|Orphanet:3210|UMLS:C1802405|SCTID:733606001|ICD10:Q82.0|OMIM:272350 https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome owl:Class UBERON:0004225 biolink:NamedThing respiratory system smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1477 biolink:NamedThing CAPN10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014327 biolink:NamedThing palmoplantar keratoderma, nonepidermolytic, focal or diffuse tmpte7i6ely_mondo_relaxed.owl PPKNEFD|autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering|palmoplantar keratoderma, nonepidermolytic, focal or diffuse OMIM:615735|ICD10:Q82.8|Orphanet:402003|UMLS:C3810394 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class MONDO:0033282 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 5 tmpte7i6ely_mondo_relaxed.owl MMDS5|multiple mitochondrial dysfunctions syndrome 5 OMIM:617613|UMLS:CN388855|DOID:0080274 owl:Class MONDO:0033552 biolink:NamedThing blood group, lewis system tmpte7i6ely_mondo_relaxed.owl LE|BLOOD GROUP, LEWIS SYSTEM|Lewis-Negative Phenotype|Lewis Blood Group System 2022-04-01 OMIM:618983 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0004150 biolink:NamedThing breast giant fibroadenoma A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity. tmpte7i6ely_mondo_relaxed.owl breast giant fibroadenoma|giant fibroadenoma of breast|giant fibroadenoma|giant fibroadenoma of the breast|giant breast fibroadenoma UMLS:C0346157|DOID:7223|ICDO:9016/0|UMLS:C0334500|NCIT:C4273|SCTID:254846003 owl:Class HGNC:21699 biolink:NamedThing CERKL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021282 biolink:NamedThing malignant teratoma of testis A malignant teratoma that involves the testis. tmpte7i6ely_mondo_relaxed.owl immature teratoma of testis|malignant teratoma of the testis|immature teratoma of the testis|testis malignant teratoma|malignant testicular teratoma|immature testicular teratoma|testicular immature teratoma|testicular malignant teratoma NCIT:C6353|UMLS:C1334154|ICD9:186.9|SCTID:416769008 owl:Class MONDO:0018636 biolink:NamedThing autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome tmpte7i6ely_mondo_relaxed.owl Evans syndrome associated with primary immunodeficiency|tripeptidyl-peptidase II deficiency|TPPII deficiency|triangle disease|TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease Orphanet:444463|ICD10:D61.0|UMLS:CN237691 owl:Class MONDO:0014795 biolink:NamedThing exercise intolerance, riboflavin-responsive tmpte7i6ely_mondo_relaxed.owl exercise intolerance, riboflavin-responsive|RREI OMIM:616839|UMLS:C4225187 owl:Class SO:0000651 biolink:NamedThing cytosolic_LSU_rRNA Cytosolic LSU rRNA is an RNA component of the large subunit of cytosolic ribosomes. tmpte7i6ely_mondo_relaxed.owl cytosolic large subunit rRNA|cytosolic LSU RNA|cytosolic LSU rRNA owl:Class MONDO:0004050 biolink:NamedThing telangiectatic osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. tmpte7i6ely_mondo_relaxed.owl telangiectatic osteosarcoma (morphologic abnormality)|telangiectatic osteosarcoma|TEOS|malignant bone aneurysm ONCOTREE:TEOS|DOID:6951|NCIT:C3902|UMLS:C0259782|ICDO:9183/3 owl:Class MONDO:0009585 biolink:NamedThing encephalopathy due to beta-mercaptolactate-cysteine disulfiduria tmpte7i6ely_mondo_relaxed.owl mercaptolactate-cysteine disulfiduria|3-mercaptopyruvate sulfurtransferase deficiency|disulfiduria, mixed|Ampola syndrome|Beta-mercaptolactate cysteine disulfiduria|MCDU MESH:C563085|Orphanet:1035|OMIM:249650|UMLS:C0796055|GARD:0000654|ICD10:E72.1 owl:Class MONDO:0022685 biolink:NamedThing cerebellar agenesis tmpte7i6ely_mondo_relaxed.owl GARD:0001187 https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis owl:Class MONDO:0003255 biolink:NamedThing mediastinal granular cell myoblastoma An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinal granular cell neoplasm|mediastinum granular cell tumor|granular cell tumor of the mediastinum|granular cell neoplasm of mediastinum|granular cell neoplasm of the mediastinum|mediastinal granular cell myoblastoma|granular cell myoblastoma of the mediastinum|mediastinal granular cell tumor|granular cell myoblastoma of mediastinum|granular cell tumor of mediastinum NCIT:C6601|UMLS:C1334656|DOID:5046 owl:Class MONDO:0018546 biolink:NamedThing serotonin syndrome Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). tmpte7i6ely_mondo_relaxed.owl serotonergic syndrome|serotonin toxidrome|serotonin storm|serotonin toxicity Orphanet:43116|MESH:D020230|EFO:1001842|MedDRA:10040108|SCTID:371089000|ICD9:333.99 owl:Class MONDO:0010937 biolink:NamedThing isoproterenol-mediated vasodilatation tmpte7i6ely_mondo_relaxed.owl isoproterenol-mediated vasodilatation OMIM:600801|UMLS:C1833276 owl:Class CL:0000119 biolink:NamedThing cerebellar Golgi cell Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004. tmpte7i6ely_mondo_relaxed.owl cerebellum Golgi cell|cerebellar Golgi neuron|Golgi cell|Golgi neuron cell owl:Class MONDO:0032853 biolink:NamedThing myopathy, distal, 6, adult-onset, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MPD6|MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM:618655 owl:Class MONDO:0032603 biolink:NamedThing polydactyly, postaxial, type A9 tmpte7i6ely_mondo_relaxed.owl POLYDACTYLY, POSTAXIAL, TYPE A9|PAPA9 OMIM:618219 owl:Class MONDO:0020927 biolink:NamedThing postaxial polydactyly tmpte7i6ely_mondo_relaxed.owl OMIMPS:174200 Editor note: consider merge with MONDO:0017426 see https://github.com/monarch-initiative/mondo/issues/1346 owl:Class UBERON:0006133 biolink:NamedThing funiculus of neuraxis tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0003480 biolink:NamedThing vein of clitoris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018431 biolink:NamedThing cold-induced sweating syndrome - hyperthermia spectrum tmpte7i6ely_mondo_relaxed.owl UMLS:CN226150|ICD10:G90.8|Orphanet:401993 Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms owl:Class NCBITaxon:56211 biolink:NamedThing Calomys laucha tmpte7i6ely_mondo_relaxed.owl small vesper mouse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018047 biolink:NamedThing familial thrombomodulin anomalies tmpte7i6ely_mondo_relaxed.owl thrombomodulin anomalies, familial MESH:C536900|HGNC:11784|Orphanet:3324|ICD10:D68.8|GARD:0005195|UMLS:C2931365 https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial owl:Class NCBITaxon:1980467 biolink:NamedThing Dobrava-Belgrade orthohantavirus tmpte7i6ely_mondo_relaxed.owl Dobravavirus|Dobrava-Belgrade hantavirus|Dobrava virus|Dobrava-Belgrade virus GC_ID:1 NCBITaxon:12506 ncbi_taxonomy owl:Class MONDO:0032485 biolink:NamedThing intellectual developmental disorder 61 tmpte7i6ely_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 61|INTELLECTUAL DEVELOPMENTAL DISORDER 61|MRD61 OMIM:618009 owl:Class HGNC:4703 biolink:NamedThing GYPB tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000339 biolink:NamedThing piece of rock An abiotic mesoscopic feature made of the mineral material of the crust of the Earth. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006546 biolink:NamedThing erythematosquamous dermatosis A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff. tmpte7i6ely_mondo_relaxed.owl Other erythematosquamous dermatosis|erythematosquamous dermatosis DOID:9097|ICD9:690|SCTID:54792008|UMLS:C0014747|ICD9:690.8|NCIT:C34591|EFO:1000695 owl:Class MONDO:0018752 biolink:NamedThing exercise-induced malignant hyperthermia tmpte7i6ely_mondo_relaxed.owl Exertional heat stroke ICD10:T88.3|Orphanet:466650|SCTID:735907005 owl:Class MONDO:0024285 biolink:NamedThing epsilon-heavy chain disease tmpte7i6ely_mondo_relaxed.owl IgE heavy chain disease SCTID:60620005|UMLS:C0272254|ICD9:273.2 owl:Class MONDO:0010864 biolink:NamedThing type 1 diabetes mellitus 7 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31. tmpte7i6ely_mondo_relaxed.owl IDDM7|diabetes mellitus, insulin-dependent, 7|insulin-dependent diabetes mellitus 7 OMIM:600321|MESH:C563957|DOID:0110746|ICD10:E10|UMLS:C1838259 owl:Class MONDO:0007242 biolink:NamedThing butyrylesterase 1 tmpte7i6ely_mondo_relaxed.owl butyrylesterase 1|Butyrylesterase type 1 OMIM:113960 owl:Class MONDO:0007502 biolink:NamedThing ear pits, posterior helical tmpte7i6ely_mondo_relaxed.owl posterior helical Ear pits|ear pits, posterior helical|earlobe Indentations, posterior OMIM:128710 owl:Class MONDO:0015205 biolink:NamedThing isolated lissencephaly type 1 without known genetic defects Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. tmpte7i6ely_mondo_relaxed.owl Orphanet:1084|UMLS:C4275151|UMLS:CN226623|SCTID:715406003|ICD10:Q04.3 owl:Class NCBITaxon:1489388 biolink:NamedThing Euteleosteomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008701 biolink:NamedThing achondrogenesis type IA Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. tmpte7i6ely_mondo_relaxed.owl achondrogenesis type 1A|ACG1A|achondrogenesis, Houston-Harris type|Houston-Harris achondrogenesis|achondrogenesis, type IA|achondrogenesis Houston-Harris type|achondrogenesis, type 1A MESH:C536015|ICD9:756.9|SCTID:42725006|OMIM:200600|GARD:0000459|ICD10:Q77.0|Orphanet:932|Orphanet:93299|DOID:0080054 owl:Class SO:0001235 biolink:NamedThing replicon A region containing at least one unique origin of replication and a unique termination site. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012879 biolink:NamedThing schizophrenia 14 A schizophrenia that has material basis in a mutation on chromosome 2q32.1. tmpte7i6ely_mondo_relaxed.owl SCZD14|Sczd14|schizophrenia type 14|schizophrenia 14|schizophrenia susceptibility locus, chromosome 2Q32-related DOID:0070090|UMLS:C2677614|OMIM:612361 owl:Class MONDO:0015413 biolink:NamedThing median cleft of the upper lip and maxilla Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated. tmpte7i6ely_mondo_relaxed.owl Orphanet:141239|ICD10:Q18.8 owl:Class CHEBI:139590 biolink:NamedThing primary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group. tmpte7i6ely_mondo_relaxed.owl primary alpha-hydroxyketones|primary alpha-hydroxy-ketones|primary alpha-hydroxyketone|primary alpha-hydroxy ketones|primary alpha-hydroxy-ketone owl:Class MONDO:0012230 biolink:NamedThing myopia 10 tmpte7i6ely_mondo_relaxed.owl myopia 10|MYP10 UMLS:C1836503|MESH:C563758|OMIM:609259 owl:Class MONDO:0015719 biolink:NamedThing severe hemophilia A Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpte7i6ely_mondo_relaxed.owl severe factor VIII deficiency|severe hemophilia type A UMLS:C0272322|ICD10:D66|Orphanet:169802|SCTID:16872008 owl:Class MONDO:0001685 biolink:NamedThing chronic follicular conjunctivitis tmpte7i6ely_mondo_relaxed.owl ICD10:H10.43|SCTID:39429002|ICD9:372.12|DOID:13326|UMLS:C0155147 owl:Class MONDO:0024251 biolink:NamedThing Minamata disease A neurological syndrome caused by severe mercury poisoning. tmpte7i6ely_mondo_relaxed.owl Chisso-Minamata disease SCTID:39640004|UMLS:CN200665 owl:Class CHEBI:33636 biolink:NamedThing bicyclic compound A molecule that features two fused rings. tmpte7i6ely_mondo_relaxed.owl bicyclic compounds owl:Class MONDO:0060745 biolink:NamedThing intellectual developmental disorder with or without epilepsy or cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl intellectual developmental disorder with or without epilepsy or cerebellar ataxia|IDDECA OMIM:618060|UMLS:CN252646 owl:Class HGNC:7856 biolink:NamedThing NQO2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008934 biolink:NamedThing cerebellar ataxia-ectodermal dysplasia syndrome Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia - ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia|cerebellar ataxia ectodermal dysplasia|ectodermal dysplasia and cerebellar ataxia GARD:0001189|Orphanet:1174|SCTID:715371006|UMLS:C1859306|MESH:C535350|ICD10:G11.1|OMIM:212835 owl:Class UBERON:0000488 biolink:NamedThing atypical epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:43787 biolink:NamedThing Psychodomorpha tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0010562 biolink:NamedThing positive regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:8006 biolink:NamedThing Salmoniformes tmpte7i6ely_mondo_relaxed.owl salmons and trouts GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41705 biolink:NamedThing Protacanthopterygii tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0032594 biolink:NamedThing protein transport within lipid bilayer The directed movement of a protein from one location to another within a lipid bilayer. tmpte7i6ely_mondo_relaxed.owl protein translocation within membrane|receptor translocation within membrane|receptor transport within lipid bilayer owl:Class MONDO:0022866 biolink:NamedThing corneal dystrophy pigmentary anomaly malabsorption tmpte7i6ely_mondo_relaxed.owl GARD:0001530 https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption owl:Class MONDO:0008132 biolink:NamedThing optic atrophy with demyelinating disease of CNS tmpte7i6ely_mondo_relaxed.owl optic atrophy with demyelinating disease of CNS Orphanet:99718|OMIM:165200|DOID:0111756|UMLS:C1833830|MESH:C563496 owl:Class MONDO:0020457 biolink:NamedThing 6-phosphogluconate dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:99135|ICD10:D55.1 owl:Class MONDO:0011012 biolink:NamedThing African iron overload African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis. tmpte7i6ely_mondo_relaxed.owl iron overload in Africa|African iron overload|Bantu siderosis|hereditary iron overload and African Americans DOID:0111033|GARD:0008495|MESH:C537904|ICD10:E83.1|SCTID:66576001|Orphanet:139507|OMIM:601195 owl:Class MONDO:0011661 biolink:NamedThing inflammatory bowel disease 5 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31. tmpte7i6ely_mondo_relaxed.owl IBD5|inflammatory bowel disease type 5|inflammatory bowel disease 5 DOID:0110889|UMLS:C1853438|MESH:C565234|OMIM:606348 owl:Class HGNC:5468 biolink:NamedThing IGFALS tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:15714 biolink:NamedThing LRPPRC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020851 biolink:NamedThing spermatogenic failure 30 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 30|SPGF30 OMIM:618110 owl:Class MONDO:0004345 biolink:NamedThing childhood malignant schwannoma A malignant peripheral nerve sheath tumor occurring in children. tmpte7i6ely_mondo_relaxed.owl childhood malignant schwannoma|childhood neurofibrosarcoma|pediatric malignant tumor of peripheral nerve sheath|pediatric malignant peripheral nerve sheath tumor|childhood malignant neurilemmoma|pediatric malignant tumor of the peripheral nerve sheath|pediatric MPNST|childhood malignant peripheral nerve sheath neoplasm|malignant peripheral nerve sheath tumor|childhood neurogenic sarcoma|childhood malignant tumor of peripheral nerve sheath|childhood malignant tumor of the peripheral nerve sheath|pediatric malignant neoplasm of the peripheral nerve sheath|pediatric malignant schwannoma|childhood malignant neoplasm of the peripheral nerve sheath|pediatric malignant peripheral nerve sheath neoplasm|childhood malignant peripheral nerve sheath tumor|childhood malignant neoplasm of peripheral nerve sheath|childhood MPNST|pediatric malignant neoplasm of peripheral nerve sheath|pediatric malignant neurilemmoma NCIT:C8094|DOID:7732|UMLS:C0279987 owl:Class MONDO:0012473 biolink:NamedThing right pulmonary artery, anomalous origin of, familial tmpte7i6ely_mondo_relaxed.owl right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus|familial ARPA|familial anomalous origin of right pulmonary artery|Arpa, familial|anomalous origin of right pulmonary artery familial|ARPA familial|right pulmonary artery, anomalous origin of, familial MESH:C535681|OMIM:610338|UMLS:C1835910|GARD:0010146 https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial owl:Class MONDO:0011654 biolink:NamedThing intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism tmpte7i6ely_mondo_relaxed.owl Kondoh syndrome|mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism UMLS:C1853480|OMIM:606242|MESH:C565246 owl:Class ECTO:4000027 biolink:NamedThing exposure to freezing water A exposure event involving the interaction of an exposure receptor to frozen of liquid water. tmpte7i6ely_mondo_relaxed.owl exposure to frozen in liquid water owl:Class MONDO:0008604 biolink:NamedThing triphalangeal thumb with double phalanges tmpte7i6ely_mondo_relaxed.owl triphalangeal thumb with double phalanges OMIM:190500|MESH:C566028|UMLS:C1860807 owl:Class MONDO:0017289 biolink:NamedThing fetal lung interstitial tumor tmpte7i6ely_mondo_relaxed.owl flit|immature interstitial mesenchymal tumor Orphanet:284362|UMLS:CN202863 owl:Class MONDO:0018268 biolink:NamedThing Medich giant platelet syndrome Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. tmpte7i6ely_mondo_relaxed.owl Medich macrothrombocytopenia ICD10:D69.1|UMLS:CN204847|UMLS:C4305375|Orphanet:370127|SCTID:718554005 owl:Class MONDO:0011825 biolink:NamedThing streptococcus, group A, severity of infection by tmpte7i6ely_mondo_relaxed.owl streptococcus, group A, severity of infection by OMIM:607395 owl:Class MONDO:0011931 biolink:NamedThing ovarian cancer, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl ovarian cancer, susceptibility to, 1|OVCAS1 OMIM:607893 owl:Class MONDO:0018316 biolink:NamedThing fatal post-viral neurodegenerative disorder tmpte7i6ely_mondo_relaxed.owl Orphanet:391343|ICD10:G04.8|UMLS:CN204961 owl:Class MONDO:0012702 biolink:NamedThing celiac disease, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 6|autoimmune disease, susceptibility to, 5|CELIAC6|celiac disease, susceptibility to, 6 OMIM:611598 owl:Class MONDO:0009615 biolink:NamedThing methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. tmpte7i6ely_mondo_relaxed.owl methylmalonyl-Coa racemase deficiency|methylmalonic aciduria III, formerly|methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency|methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonic aciduria III|MCEE deficiency|methylmalonyl-CoA epimerase deficiency|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency MESH:C565386|ICD10:E71.1|OMIM:251120|Orphanet:308425|SCTID:765137006|UMLS:C1855100 owl:Class MONDO:0010786 biolink:NamedThing chronic diarrhea with villous atrophy Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. tmpte7i6ely_mondo_relaxed.owl diarrhea, chronic, with villous atrophy UMLS:C1838912|Orphanet:1670|MESH:C564019|ICD10:K59.1|OMIM:520100 owl:Class NCBITaxon:2732529 biolink:NamedThing Tectiliviricetes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732008 biolink:NamedThing Preplasmiviricota tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002341 biolink:NamedThing granulomatous angiitis Inflammation of the arteries that is characterized by the presence of granulomas. tmpte7i6ely_mondo_relaxed.owl Granulomatous arteritis MESH:D020293|UMLS:C0018202|DOID:2555|NCIT:C34653 owl:Class MONDO:0009684 biolink:NamedThing muscular hypertonia, lethal tmpte7i6ely_mondo_relaxed.owl muscular hypertonia, lethal MESH:C564982|UMLS:C1850827|OMIM:254120 owl:Class MONDO:0030453 biolink:NamedThing developmental and epileptic encephalopathy 97 tmpte7i6ely_mondo_relaxed.owl DEE97 OMIM:619561 owl:Class MONDO:0030281 biolink:NamedThing arthrogryposis multiplex congenita 6 tmpte7i6ely_mondo_relaxed.owl arthrogryposis multiplex congenita 6|AMC6 OMIM:619334 owl:Class MONDO:0002945 biolink:NamedThing micronodular basal cell carcinoma A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back. tmpte7i6ely_mondo_relaxed.owl skin micronodular basal cell carcinoma SCTID:402529002|NCIT:C27541|DOID:4289|UMLS:C1367861 owl:Class MONDO:0015631 biolink:NamedThing von Willebrand disease type 2N Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). tmpte7i6ely_mondo_relaxed.owl von Willebrand disease Normandy variant|von Willebrand disease, type 2N UMLS:C1282975|SCTID:359732009|Orphanet:166093|OMIM:613554|ICD10:D68.0|NCIT:C131689 owl:Class CL:2000068 biolink:NamedThing pericardium fibroblast Any fibroblast that is part of a pericardium. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6430 TermGenie 2014-10-07T18:38:06Z cell owl:Class MONDO:0032901 biolink:NamedThing Catifa syndrome tmpte7i6ely_mondo_relaxed.owl Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder|CATIFA SYNDROME|CATIFA OMIM:618761 owl:Class MONDO:0054780 biolink:NamedThing elliptocytosis 3 tmpte7i6ely_mondo_relaxed.owl anemia, perinatal hemolytic, fatal or near-fatal|elliptocytosis 3|EL3 OMIM:617948|MESH:C566678 owl:Class MONDO:0020855 biolink:NamedThing spermatogenic failure 32 tmpte7i6ely_mondo_relaxed.owl SPGF32|spermatogenic failure 32 OMIM:618115 owl:Class HGNC:6086 biolink:NamedThing INSL3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011041 biolink:NamedThing ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hair/Tooth type|ectodermal dysplasia with natal teeth Turnpenny type|ectodermal dysplasia with natal teeth, Turnpenny type UMLS:C1832444|OMIM:601345|GARD:0010526|MESH:C563347|SCTID:715576000|Orphanet:69083 https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type owl:Class MONDO:0001496 biolink:NamedThing male genital organ stricture tmpte7i6ely_mondo_relaxed.owl stricture of male genital organs ICD9:608.85|SCTID:198064007|DOID:12333 owl:Class MONDO:0020846 biolink:NamedThing intellectual disability, autosomal recessive 64 tmpte7i6ely_mondo_relaxed.owl MENTAL RETARDATION, autosomal recessive 64|MRT64 OMIM:618103 owl:Class MONDO:0044205 biolink:NamedThing Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400). tmpte7i6ely_mondo_relaxed.owl SDS2|Shwachman-Diamond syndrome 2 UMLS:CN244554|OMIM:617941 owl:Class MONDO:0008342 biolink:NamedThing pubic bone dysplasia tmpte7i6ely_mondo_relaxed.owl pubic bone dysplasia MESH:C566735|OMIM:178350|UMLS:C1867436 owl:Class MONDO:0100385 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23.3;p13.3) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(11;19)(q23.3;p13.3)|AML, t(11;19)(q23;p13.3) NCIT:C36372 owl:Class MONDO:0001791 biolink:NamedThing neonatal urinary tract infectious disease tmpte7i6ely_mondo_relaxed.owl urinary tract infection of newborn UMLS:C0235815|DOID:1375|ICD9:771.82|SCTID:12301009|ICD10:P39.3 owl:Class CHEBI:25248 biolink:NamedThing methyl ester Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol. tmpte7i6ely_mondo_relaxed.owl carboxylic acid methyl ester|carboxylic acid methyl esters owl:Class MONDO:0017070 biolink:NamedThing total spina bifida cystica tmpte7i6ely_mondo_relaxed.owl Orphanet:268748 owl:Class GO:1901192 biolink:NamedThing positive regulation of formation of translation initiation ternary complex Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. tmpte7i6ely_mondo_relaxed.owl up regulation of formation of translation initiation ternary complex|up-regulation of formation of translation initiation ternary complex|up regulation of translation initiation ternary complex assembly|positive regulation of translation initiation ternary complex assembly|upregulation of translation initiation ternary complex assembly|activation of formation of translation initiation ternary complex|upregulation of formation of translation initiation ternary complex|up-regulation of translation initiation ternary complex assembly|activation of translation initiation ternary complex assembly owl:Class MONDO:0007755 biolink:NamedThing hyperimmunoglobulin G1(A1) syndrome tmpte7i6ely_mondo_relaxed.owl hyperimmunoglobulin G1(A1) syndrome|Immunoglobulin heavy chain regulator MESH:C564173|UMLS:C1840429|OMIM:144120 owl:Class NCBITaxon:2611341 biolink:NamedThing Metamonada tmpte7i6ely_mondo_relaxed.owl PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class HP:0200000 biolink:NamedThing Dysharmonic bone age Different levels of maturation of different bones. tmpte7i6ely_mondo_relaxed.owl Dysharmonic skeletal maturation UMLS:C4020918 Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. sebastiankohler 2010-05-31T01:16:51Z human_phenotype owl:Class MONDO:0007147 biolink:NamedThing obstructive sleep apnea syndrome Cessation of air flow during sleep due to upper airway obstruction. tmpte7i6ely_mondo_relaxed.owl obstructive sleep apnea syndrome|obstructive sleep apnea|upper airway resistance sleep apnea syndrome|syndrome, upper airway resistance, sleep apnea|obstructive sleep Apneas|OSAHS|syndrome, sleep apnea, obstructive|Osa|Apneas, obstructive sleep|syndrome, obstructive sleep apnea|apnea, obstructive sleep|sleep Apneas, obstructive|sleep apnea hypopnea syndrome|sleep apnea syndrome, obstructive|sleep apnea/hypopnea syndrome EFO:0003918|SCTID:230493001|ICD10:G47.33|UMLS:C0520679|NCIT:C27168|ICD9:780.57|ICD10:G47.3|NCIT:C116337|SCTID:78275009|MESH:D012891|MESH:D020181|NCIT:C26884|SCTID:73430006|DOID:0050848|HP:0002870|ICD9:327.23|OMIM:107650|ICD10:G47.30 owl:Class MONDO:0032680 biolink:NamedThing global developmental delay with or without impaired intellectual development tmpte7i6ely_mondo_relaxed.owl GDDI|GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:618330 owl:Class UBERON:0006964 biolink:NamedThing pars distalis of adenohypophysis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0600024 biolink:NamedThing familial idiopathic inflammatory myopathy An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause. tmpte7i6ely_mondo_relaxed.owl familial idiopathic myositis OMIM:160750|MESH:C000598744 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0019638 biolink:NamedThing renal dysplasia Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. tmpte7i6ely_mondo_relaxed.owl renal dysplasia|renal dysplasia (disease) renal dysplasia (disease) Orphanet:93108|ICD10:Q61.4|HP:0000110 owl:Class NCBITaxon:2315720 biolink:NamedThing Trochida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:216275 biolink:NamedThing Vetigastropoda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:35143 biolink:NamedThing hemoglobin tmpte7i6ely_mondo_relaxed.owl hemoglobin|vertebrate haemoglobin|haemoglobin owl:Class CHEBI:5386 biolink:NamedThing globin tmpte7i6ely_mondo_relaxed.owl Globin|pentacoordinate globin|globins owl:Class MONDO:0022960 biolink:NamedThing dermatocardioskeletal syndrome boronne type tmpte7i6ely_mondo_relaxed.owl GARD:0001812 https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type owl:Class MONDO:0001225 biolink:NamedThing opioid abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. tmpte7i6ely_mondo_relaxed.owl DOID:11206|ICD9:305.5|ICD10:F11.1|SCTID:5602001 owl:Class MONDO:0012435 biolink:NamedThing 3-methylglutaconic aciduria type 5 A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. tmpte7i6ely_mondo_relaxed.owl 3-methylglutaconic aciduria caused by mutation in DNAJC19|Mga, type 5|MGA 5|3 methylglutaconic aciduria type V|DCMA syndrome|DNAJC19 3-methylglutaconic aciduria|cardiomyopathy, dilated, with ataxia|3-methylglutaconic aciduria type V|3-methylglutaconic aciduria type 5|MGA V|DCMA|dilated cardiomyopathy with ataxia|3 alpha methylglutaconic aciduria type V|3-METHYLGLUTACONIC aciduria, type V|MGA5|3-Methylglutaconic aciduria, type 5|MGCA5 UMLS:C4039473|GARD:0012964|DOID:0110000|SCTID:711412004|UMLS:C1857776|MESH:C565706|GARD:0010344|Orphanet:66634|ICD10:E71.1|OMIM:610198 https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v owl:Class MONDO:0032793 biolink:NamedThing O'Donnell-Luria-Rodan syndrome tmpte7i6ely_mondo_relaxed.owl ODLURO|O'Donnell-Luria-Rodan syndrome OMIM:618512 owl:Class HP:0000290 biolink:NamedThing Abnormality of the forehead An anomaly of the forehead. tmpte7i6ely_mondo_relaxed.owl Anomaly of the forehead|Abnormality of the frontal region of the face|Deformity of the forehead|Malformation of the forehead|Abnormality of the forehead UMLS:C4025867 human_phenotype owl:Class MONDO:0015314 biolink:NamedThing primary laryngeal lymphangioma Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. tmpte7i6ely_mondo_relaxed.owl Orphanet:137926|ICD10:D18.1|SCTID:763617006 owl:Class MONDO:0008519 biolink:NamedThing multiple synostoses syndrome 1 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene. tmpte7i6ely_mondo_relaxed.owl deafness-symphalangism syndrome of Herrmann|facioaudiosymphalangism syndrome|symphalangism brachydactyly syndrome|symphalangism-brachydactyly syndrome|SYNS1|multiple synostoses syndrome caused by mutation in nog|NOG multiple synostoses syndrome|synostoses, multiple, with brachydactyly|multiple synostoses syndrome 1|multiple synostoses syndrome caused by mutation in NOG|nog multiple synostoses syndrome|Wl syndrome|multiple synostoses syndrome type 1|synostoses multiple with brachydactyly UMLS:C0342282|Orphanet:3237|GARD:0003836|OMIM:186500 owl:Class MONDO:0008661 biolink:NamedThing vitiligo Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. tmpte7i6ely_mondo_relaxed.owl VAMAS6|vitiligo-associated multiple autoimmune disease susceptibility 6 OMIM:193200|Orphanet:247871|ICD9:709.01|MESH:D014820|ICD10:L80|DOID:12306|NCIT:C26915|UMLS:C0042900|EFO:0004208 owl:Class MONDO:0017562 biolink:NamedThing congenital patella dislocation, unilateral tmpte7i6ely_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295234 owl:Class MONDO:0100002 biolink:NamedThing food protein-induced allergic proctocolitis A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins. tmpte7i6ely_mondo_relaxed.owl milk protein proctocololitis|FPIPC|allergic proctocolitis 2018-03-14 03:32:19+00:00 owl:Class MONDO:0011425 biolink:NamedThing dilated cardiomyopathy 1H A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22. tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, with conduction defect|dilated cardiomyopathy with conduction defect|CMD1H|cardiomyopathy, dilated, 1H|dilated cardiomyopathy type 1H UMLS:C1858591|OMIM:604288|ICD10:I42.0|MESH:C536277|DOID:0110429 owl:Class MONDO:0002048 biolink:NamedThing thrombocytopenia due to immune destruction A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). tmpte7i6ely_mondo_relaxed.owl thrombocytopenia due to platelet alloimmunization|auto-immune thrombocytopenia|immune thrombocytopenia|thrombocytopenia due to immune destruction GARD:0006768|DOID:1587|NCIT:C3991 owl:Class MONDO:0017365 biolink:NamedThing hereditary acrokeratotic poikiloderma, Weary type tmpte7i6ely_mondo_relaxed.owl congenital poikiloderma with bullae, Weary type Orphanet:2907|ICD10:Q82.8 owl:Class MONDO:0003964 biolink:NamedThing myositis ossificans A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues. tmpte7i6ely_mondo_relaxed.owl myositis ossificans progressiva|fibrodysplasia ossificans progressiva|progressive myositis ossificans|Myisitis ossificans|ossification - muscle|progressive ossifying myositis|FOP NCIT:C3253|MESH:D009221|UMLS:C0027122|DOID:668 owl:Class MONDO:0006558 biolink:NamedThing pemphigoid gestationis A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever. tmpte7i6ely_mondo_relaxed.owl gestational herpes|Herpes gestationis NOS (disorder)|Herpes gestationis|pemphigus gestationis|Herpes gestationis (disorder)|pemphigoid gestationis|Herpes gestationis unspecified (disorder)|gestational pemphigoid EFO:1000709|ICD10:O26.40|Wikipedia:Gestational_pemphigoid|SCTID:86081009|MedDRA:10019939|GARD:0006497|MESH:D006559|ICD10:L12.8|UMLS:C0019343|NCIT:C85003|ICD10:O26.4|Orphanet:63275|ICD10CM:O26.4|DOID:0040098|ICD9:646.80|DOID:14482 https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis owl:Class MONDO:0012428 biolink:NamedThing kyphoscoliosis 1 tmpte7i6ely_mondo_relaxed.owl KYPSC1|kyphoscoliosis 1 MESH:C565711|UMLS:C1857795|OMIM:610170 owl:Class NCBITaxon:2732559 biolink:NamedThing Rowavirales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020395 biolink:NamedThing valvar pulmonary stenosis A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). tmpte7i6ely_mondo_relaxed.owl ICD9:746.02|Orphanet:99054|MedDRA:10037450|ICD10:Q22.1 owl:Class MONDO:0021542 biolink:NamedThing hemangioma of choroid A hemangioma that involves the optic choroid. tmpte7i6ely_mondo_relaxed.owl angioma of the choroid|benign choroid angioma|angioma of choroid|choroid angioma|choroid hemangioma|benign hemangioma of the choroid|optic choroid hemangioma|benign angioma of the choroid|benign angioma of choroid|benign choroid hemangioma|hemangioma, choroid, benign|hemangioma of the choroid|benign hemangioma of choroid|hemangioma of optic choroid SCTID:255022003|UMLS:C0346390|ICD9:228.09|NCIT:C4562 owl:Class UBERON:0009536 biolink:NamedThing vascular element of left lung tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020538 biolink:NamedThing malignant dysgerminomatous germ cell tumor of ovary Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality. tmpte7i6ely_mondo_relaxed.owl dysgerminomatous germ cell cancer of the ovary|malignant ovarian dysgerminoma|dysgerminomatous germ cell cancer of ovary|malignant dysgerminomatous germ cell tumor of the ovary UMLS:CN207439|Orphanet:99912|ICD10:C56 owl:Class MONDO:0001745 biolink:NamedThing subserous uterine fibroid tmpte7i6ely_mondo_relaxed.owl subserous leiomyoma of uterus ICD9:218.2|ICD10:D25.2|DOID:13560|SCTID:95280005|UMLS:C0153995 owl:Class MONDO:0010763 biolink:NamedThing spermatogenic failure, Y-linked, 1 tmpte7i6ely_mondo_relaxed.owl incomplete Sertoli cell-only syndrome|Sertoli cell-only syndrome, Y-linked|SPGFY1|Sertoli cell-only syndrome, type 1|spermatogenic failure, Y-linked, 1|Sertoli cell-only syndrome, type 2|spermatogenic failure, Y-linked, type 1|hypospermatogenesis DOID:0070186|Orphanet:1646|OMIM:400042 owl:Class MONDO:0001060 biolink:NamedThing microinvasive gastric cancer An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present. tmpte7i6ely_mondo_relaxed.owl superficial gastric cancer|EGC|superficial spreading gastric cancer|surface gastric cancer|early gastric cancer UMLS:C0349530|SCTID:276809004|DOID:10541|NCIT:C27131 owl:Class MONDO:0100133 biolink:NamedThing mitochondrial complex I deficiency A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. tmpte7i6ely_mondo_relaxed.owl isolated mitochondrial respiratory chain complex I deficiency|complex 1 mitochondrial respiratory chain deficiency|isolated complex I deficiency|isolated NADH-ubiquinone reductase deficiency|isolated NADH-coenzyme Q reductase deficiency|NADH coenzyme Q reductase deficiency|isolated NADH-CoQ reductase deficiency GARD:0003908|Orphanet:2609|DOID:0060536|MESH:C537475|UMLS:C2936907 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency owl:Class MONDO:0013149 biolink:NamedThing hydrops fetalis, nonimmune, with gracile bones and dysmorphic features tmpte7i6ely_mondo_relaxed.owl hydrops fetalis, nonimmune, with gracile bones and dysmorphic features UMLS:C2751073|OMIM:613124|MESH:C567731 owl:Class MONDO:0030476 biolink:NamedThing Galloway-Mowat syndrome 10 tmpte7i6ely_mondo_relaxed.owl GAMOS10 OMIM:619609 owl:Class MONDO:0021994 biolink:NamedThing Berk-Tabatznik syndrome tmpte7i6ely_mondo_relaxed.owl short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges|congenital optic atrophy and brachytelephalangy|cleft nare, brachydactyly, short stature dwarfism|Berk Tabatznik syndrome|kyphosis brachyphalangy optic atrophy|cleft nare, brachydactyly, short stature-dwarfism UMLS:C2930899|GARD:0005109|MESH:C535432 https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome owl:Class MONDO:0030471 biolink:NamedThing Galloway-Mowat syndrome 9 tmpte7i6ely_mondo_relaxed.owl GAMOS9 OMIM:619603 owl:Class MONDO:0023000 biolink:NamedThing dobrow syndrome tmpte7i6ely_mondo_relaxed.owl 2022-05-01 GARD:0001895 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome owl:Class CL:1001045 biolink:NamedThing kidney cortex artery cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001077 cell owl:Class MONDO:0001901 biolink:NamedThing selective IgG subclass deficiency A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. tmpte7i6ely_mondo_relaxed.owl selective Immunoglobulin G subclass deficiency|selective deficiency of IgG|selective IgG immunodeficiency|Immunoglobin G subclass deficiency|selective immunoglobulin G deficiency|selective IgG deficiency disease NCIT:C27024|ICD9:279.03|SCTID:190981001|DOID:14176|MESH:D017099|ICD10:D80.3 owl:Class MONDO:0054577 biolink:NamedThing bleeding disorder, platelet-type, 21 tmpte7i6ely_mondo_relaxed.owl bleeding disorder, platelet-type, 21|BDPLT21 OMIM:617443 owl:Class HGNC:7067 biolink:NamedThing CIITA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009442 biolink:NamedThing ichthyosis congenita with biliary atresia tmpte7i6ely_mondo_relaxed.owl congenital ichthyosis with biliary atresia|ichthyosis congenita biliary atresia|ichthyosis congenita with biliary atresia OMIM:242400|MESH:C562886|GARD:0002948|SCTID:235916001 https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia owl:Class ECTO:7000075 biolink:NamedThing exposure to permafrost A exposure event involving the interaction of an exposure receptor to permafrost. tmpte7i6ely_mondo_relaxed.owl permafrost exposure owl:Class MONDO:0011191 biolink:NamedThing capillary infantile hemangioma tmpte7i6ely_mondo_relaxed.owl HCI|hemangioma, hereditary capillary|hemangioma, capillary infantile OMIM:602089|Orphanet:91415|MESH:C535860|UMLS:C1865871|Orphanet:464293 Editor note: consider merging or making class explicitly for inherited forms. owl:Class ENVO:00000016 biolink:NamedThing sea A large expanse of saline water usually connected with an ocean. tmpte7i6ely_mondo_relaxed.owl channel|marginal sea|closed sea|Sea|open sea|open water|open sound|sea owl:Class MONDO:0022333 biolink:NamedThing 5-nucleotidase syndrome tmpte7i6ely_mondo_relaxed.owl 5'-Nucleotidase syndrome|5'NT syndrome MESH:C535321|GARD:0008242|UMLS:C2930876 https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome owl:Class MONDO:0020370 biolink:NamedThing Cogan-Reese syndrome Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. tmpte7i6ely_mondo_relaxed.owl UMLS:C1168173|NCIT:C84644|ICD10:H21.2|MedDRA:10059200|Orphanet:98980|SCTID:404633004|DOID:0060217|GARD:0006125 https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome owl:Class ENVO:00000248 biolink:NamedThing glacial valley A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section. tmpte7i6ely_mondo_relaxed.owl valley owl:Class GO:0060123 biolink:NamedThing regulation of growth hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009182 biolink:NamedThing junctional epidermolysis bullosa Herlitz type Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz-Pearson type|Herlitz-Pearson-type epidermolysis bullosa|Herlitz-Pearson type epidermolysis bullosa|epidermolysis bullosa, junctional, Herlitz type|epidermolysis bullosa Junctionalis, Herlitz type|JEB, generalized severe|JEB-Herlitz type|epidermolysis bullosa, junctional, Herlitz-Pearson type|junctional epidermolysis bullosa, Herlitz type|Herlitz type epidermolysis bullosa junctionalis|junctional epidermolysis bullosa generalisata gravis|JEB-H|junctional epidermolysis bullosa, generalized severe ICD10:Q81.1|GARD:0002153|OMIM:226700|DOID:0060737|SCTID:400140006|Orphanet:79404 https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type owl:Class CL:0002460 biolink:NamedThing CD8alpha-negative thymic conventional dendritic cell A conventional thymic dendritic cell that is CD8alpha-negative. tmpte7i6ely_mondo_relaxed.owl DC.8-.Th tmeehan 2010-11-23T10:58:53Z cell owl:Class MONDO:0032757 biolink:NamedThing ciliary dyskinesia, primary, 41 tmpte7i6ely_mondo_relaxed.owl CILD41|CILIARY DYSKINESIA, PRIMARY, 41 OMIM:618449 owl:Class MONDO:0600014 biolink:NamedThing alveolar capillary dysplasia without misalignment of pulmonary veins A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins. tmpte7i6ely_mondo_relaxed.owl ACD without misalignment http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/pull/3186|https://github.com/monarch-initiative/mondo/issues/3026 owl:Class HGNC:30304 biolink:NamedThing RGS9BP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006824 biolink:NamedThing Krebs 2 carcinoma Carcinoma having known association to krebs2 gene mutation tmpte7i6ely_mondo_relaxed.owl UMLS:C0007128|MESH:D002287|EFO:1001007 owl:Class MONDO:0010019 biolink:NamedThing secretory component deficiency tmpte7i6ely_mondo_relaxed.owl IgA deficiency, secretory|secretory component deficiency OMIM:269650|ICD9:279.03|MESH:C562869|SCTID:234554004|UMLS:C0398709 owl:Class MONDO:0001341 biolink:NamedThing selective IgA deficiency disease A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders. tmpte7i6ely_mondo_relaxed.owl IgA deficiencies|SIgAD|deficiency, IgA|deficiencies, IgA|immunoglobulin alpha deficiency|selective IgA immunodeficiency|selective immunoglobulin A deficiency|IgA deficiency|immunoglobulin A deficiency|gamma-A-globulin deficiency OMIM:609529|UMLS:C4049006|OMIM:137100|DOID:0060025|MESH:D017098|EFO:1001929|Orphanet:69127|DOID:11701|NCIT:C26964|OMIM:269650|UMLS:C0162538|SCTID:29260007 owl:Class MONDO:0024863 biolink:NamedThing small size posterior uveal melanoma tmpte7i6ely_mondo_relaxed.owl small size posterior uveal melanoma UMLS:C0278867|NCIT:C9089 owl:Class MONDO:0007934 biolink:NamedThing benign concentric annular macular dystrophy Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration. tmpte7i6ely_mondo_relaxed.owl maculopathy, bull's eye|macular dystrophy, concentric annular|Mcdca|macular dystrophy, benign concentric annular Orphanet:251287|UMLS:C4304667|ICD10:H35.5|SCTID:719520001|OMIM:153870|GARD:0009887|MESH:C537833 owl:Class CHEBI:26596 biolink:NamedThing salicylates Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016302 biolink:NamedThing isolated congenitally uncorrected transposition of the great arteries tmpte7i6ely_mondo_relaxed.owl isolated congenitally uncorrected transposition of the great vessels ICD10:Q20.3|Orphanet:216718 owl:Class HGNC:6240 biolink:NamedThing KCNE1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17964 biolink:NamedThing RDH11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001329 biolink:NamedThing accommodative spasm tmpte7i6ely_mondo_relaxed.owl spasm of accommodation SCTID:30069002|ICD9:367.53|UMLS:C0152196|DOID:11637|ICD10:H52.53 owl:Class MONDO:0004687 biolink:NamedThing severe nonproliferative diabetic retinopathy tmpte7i6ely_mondo_relaxed.owl severe nonproliferative retinopathy|severe NPDR|severe npdr|severe nonproliferative diabetic retinopathy|high risk non proliferative diabetic retinopathy DOID:8946|SCTID:312905005|ICD9:362.06|UMLS:C0730278 owl:Class HGNC:4400 biolink:NamedThing GNB3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044629 biolink:NamedThing congenital amyoplasia tmpte7i6ely_mondo_relaxed.owl amyoplasia congenita Orphanet:488586 owl:Class MONDO:0009177 biolink:NamedThing late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders|epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa, late-onset localized junctional, with intellectual disability Orphanet:231556|GARD:0000299|ICD10:Q81.8|MESH:C535492|OMIM:226440|UMLS:C1856969 owl:Class MONDO:0060457 biolink:NamedThing autoinflammation with arthritis and dyskeratosis tmpte7i6ely_mondo_relaxed.owl AUTOINFLAMMATION with arthritis and dyskeratosis|AIADK OMIM:617388 owl:Class MONDO:0054722 biolink:NamedThing geleophysic dysplasia 3 tmpte7i6ely_mondo_relaxed.owl GPHYSD3|GELEOPHYSIC dysplasia 3 DOID:0111727|OMIM:617809 owl:Class MONDO:0022869 biolink:NamedThing coronary arteries congenital malformation tmpte7i6ely_mondo_relaxed.owl GARD:0001534 https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation owl:Class MONDO:0023659 biolink:NamedThing developmental and epileptic encephalopathy 96 tmpte7i6ely_mondo_relaxed.owl DEE96 OMIM:619340 owl:Class MONDO:0016005 biolink:NamedThing indomethacin embryofetopathy Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants. tmpte7i6ely_mondo_relaxed.owl antenatal indomethacin exposure|fetal indomethacin syndrome UMLS:CN200656|ICD10:Q86.8|Orphanet:1909|GARD:0002994|SCTID:715430001|UMLS:C4275138 owl:Class MONDO:0023691 biolink:NamedThing maple syrup urine disease type 1A A maple syrup urine disease caused by mutations in BCKDHA. tmpte7i6ely_mondo_relaxed.owl MSUD type 1A|maple syrup urine disease type 1A OMIM:248600|GARD:0008594 https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a owl:Class MONDO:0008001 biolink:NamedThing milia, multiple eruptive tmpte7i6ely_mondo_relaxed.owl MEM|milia, multiple eruptive OMIM:157400|UMLS:C0343079|MESH:C562823|SCTID:238749001 owl:Class MONDO:0024614 biolink:NamedThing neurotic depression A term used for any state of depression that is not psychotic. tmpte7i6ely_mondo_relaxed.owl neurotic depression NCIT:C35369 owl:Class NCBITaxon:104454 biolink:NamedThing Heterophyes tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009630 biolink:NamedThing root of thoracic nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:31673 biolink:NamedThing GRXCR1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5039 biolink:NamedThing Blastomyces dermatitidis tmpte7i6ely_mondo_relaxed.owl Ajellomyces dermatitidis|Blastomycoides dermatitidis GC_ID:1 ncbi_taxonomy owl:Class CL:1000482 biolink:NamedThing myocardial endocrine cell of interventricular septum A myocardial endocrine cell that is part of the interventricular septum. tmpte7i6ely_mondo_relaxed.owl FMA:83390 cell owl:Class GO:1902098 biolink:NamedThing calcitriol binding Binding to calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3. tmpte7i6ely_mondo_relaxed.owl 1,25-dihydroxycholecalciferol binding|1alpha,25(OH)2 vitamin D3 binding|1alpha,25-dihydroxyvitamin D3 binding|1,25-dihydroxyvitamin D3 binding|1alpha,25-dihydroxycholecalciferol binding|1alpha,25(OH)2D3 binding|hormonally active vitamin D3 binding owl:Class MONDO:0003181 biolink:NamedThing lung adenoid cystic carcinoma A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. tmpte7i6ely_mondo_relaxed.owl adenocystic carcinoma of the lung|lung adenocystic carcinoma|adenocystic carcinoma of lung|pulmonary adenoid cystic carcinoma|adenoid cystic carcinoma of lung|lung adenoid cystic carcinoma|pulmonary adenocystic carcinoma|adenoid cystic carcinoma of the lung|lung adenoid cystic cancer|LUACC SCTID:707466008|ONCOTREE:LUACC|DOID:4872|UMLS:C1334439|ICD9:162.9|NCIT:C5666 owl:Class MONDO:0006994 biolink:NamedThing tarsal tunnel syndrome Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. tmpte7i6ely_mondo_relaxed.owl posterior tibial nerve neuralgia|neuropathy of the posterior tibial nerve and its branches UMLS:C0039319|NCIT:C85183|DOID:12526|MESH:D013641|EFO:1001208|MedDRA:10043121|ICD10:G57.50|ICD9:355.5|ICD10:G57.5|SCTID:47374004|GARD:0007733 https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome owl:Class MONDO:0006997 biolink:NamedThing tibial neuropathy Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) tmpte7i6ely_mondo_relaxed.owl Posterior tibial neuropathy|tibial neuropathy (disorder) [ambiguous] DOID:1187|MESH:D020429|SCTID:399076001|EFO:1001213|UMLS:C0751932 owl:Class MONDO:0011015 biolink:NamedThing cataract 24 A cataract that has material basis in variation in the region 17p13. tmpte7i6ely_mondo_relaxed.owl cataract 24|cataract 24, anterior polar|anterior polar cataract 2|CTRCT24|cataract, anterior polar, 2|cataract type 24|CTAA2|anterior polar cataract 24 OMIM:601202|MESH:C537774|Orphanet:91492|ICD10:Q12.0|UMLS:C1832609|Orphanet:98988|DOID:0110257 owl:Class SO:0002300 biolink:NamedThing unit_of_gene_expression Transcription units or transcribed coding sequences. tmpte7i6ely_mondo_relaxed.owl unit of gene expression owl:Class MONDO:0014576 biolink:NamedThing lipoyl transferase 1 deficiency tmpte7i6ely_mondo_relaxed.owl lipoyltransferase 1 deficiency|LIPT1D Orphanet:401862|OMIM:616299|UMLS:C4225379|ICD10:E88.8 owl:Class MONDO:0008400 biolink:NamedThing salivary duct calculi Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. tmpte7i6ely_mondo_relaxed.owl submandibular duct calculi|parotid duct calculi|salivary duct calculi OMIM:181010|MESH:D012465 owl:Class HGNC:29478 biolink:NamedThing ROGDI tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022839 biolink:NamedThing ion gated channel activity Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003058 biolink:NamedThing microcystic meningioma A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid. tmpte7i6ely_mondo_relaxed.owl microcystic meningioma (morphologic abnormality)|microcystic meningioma MESH:D008579|DOID:4594|EFO:1000376|NCIT:C4721|UMLS:C1384408 owl:Class MONDO:0017509 biolink:NamedThing adactyly of foot, unilateral tmpte7i6ely_mondo_relaxed.owl congenital absence of toes, unilateral Orphanet:295116|ICD10:Q72.8 owl:Class PATO:0001406 biolink:NamedThing binucleate A nucleate quality inhering in a bearer by virtue of the bearer's having two nuclei. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032841 biolink:NamedThing Usher syndrome, type 1M tmpte7i6ely_mondo_relaxed.owl USHER SYNDROME, TYPE 1M|USH1M OMIM:618632 owl:Class MONDO:0014791 biolink:NamedThing Luscan-Lumish syndrome tmpte7i6ely_mondo_relaxed.owl Luscan-Lumish syndrome; LLs|LLs|Luscan-Lumish syndrome UMLS:C4085873|OMIM:616831 owl:Class MONDO:0015348 biolink:NamedThing leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl ICD10:E75.2|Orphanet:139444 owl:Class MONDO:0002283 biolink:NamedThing neuroaxonal dystrophy A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) tmpte7i6ely_mondo_relaxed.owl DOID:2367|UMLS:C0338473|SCTID:230365004|NCIT:C161542|MESH:D019150 owl:Class MONDO:0000660 biolink:NamedThing akinetopsia An agnosia that is a loss of motion perception. tmpte7i6ely_mondo_relaxed.owl DOID:0060130 owl:Class MONDO:0032665 biolink:NamedThing intellectual developmental disorder, autosomal recessive 68 tmpte7i6ely_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 68|MRT68|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 OMIM:618302 owl:Class HGNC:18308 biolink:NamedThing TMLHE tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0010001 biolink:NamedThing stromal cell of bone marrow A stromal cell that is part_of a bone marrow. tmpte7i6ely_mondo_relaxed.owl bone marrow stromal cell GOC:cjm owl:Class MONDO:0001600 biolink:NamedThing mucocele of salivary gland A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction. tmpte7i6ely_mondo_relaxed.owl ranula|mucous retention cyst of salivary gland|salivary cyst|salivary gland mucocele UMLS:C2242813|ICD10:K11.6|MESH:D011900|UMLS:C0026686|ICD9:527.6|DOID:12904|SCTID:69825009|NCIT:C27649 owl:Class MONDO:0003752 biolink:NamedThing frontal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpte7i6ely_mondo_relaxed.owl Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus|frontal sinus Schneiderian papilloma NCIT:C6837|UMLS:C1333645|DOID:6054 owl:Class MONDO:0014153 biolink:NamedThing cone-rod dystrophy 18 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene. tmpte7i6ely_mondo_relaxed.owl RAB28 cone-rod dystrophy|cone-rod dystrophy type 18|cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy 18|CORD18 UMLS:C3809299|DOID:0111024|Orphanet:1872|OMIM:615374 owl:Class MONDO:0014650 biolink:NamedThing familial temporal lobe epilepsy 8 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13. tmpte7i6ely_mondo_relaxed.owl ETL8|epilepsy, familial temporal lobe, 8|epilepsy, familial temporal lobe, type 8|familial temporal lobe epilepsy type 8 UMLS:C4225318|DOID:0060754|OMIM:616461|Orphanet:101046 owl:Class MONDO:0060533 biolink:NamedThing microcephaly, short stature, and limb abnormalities tmpte7i6ely_mondo_relaxed.owl microcephaly, short stature, and limb abnormalities|MISSLA UMLS:C4539873|OMIM:617604 owl:Class MONDO:0011839 biolink:NamedThing Newfoundland cone-rod dystrophy Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene. tmpte7i6ely_mondo_relaxed.owl Newfoundland ROD-cone dystrophy|RLBP1 cone-rod dystrophy|NFRCD|cone-rod dystrophy caused by mutation in RLBP1 DOID:0111015|UMLS:C1843815|OMIM:607476|MESH:C564391 owl:Class MONDO:0043254 biolink:NamedThing papular urticaria tmpte7i6ely_mondo_relaxed.owl strophulus|papular urticaria|bullous papular urticaria - type|urticaria papulosa of hebra|prurigo simplex|lichen urticatus GARD:0007322|SCTID:55608001|MESH:C537169 owl:Class MONDO:0100400 biolink:NamedThing acute myeloid leukemia, t(3;12)(q23;p12.3) Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(3;12)(q23;p12.3) NCIT:C168766 owl:Class MONDO:0032859 biolink:NamedThing spermatogenic failure 40 tmpte7i6ely_mondo_relaxed.owl SPGF40|SPERMATOGENIC FAILURE 40 OMIM:618664 owl:Class MONDO:0022998 biolink:NamedThing distal arthrogryposis Moore weaver type tmpte7i6ely_mondo_relaxed.owl Moore Weaver syndrome MESH:C536814|UMLS:C2931342 owl:Class MONDO:0011776 biolink:NamedThing CINCA syndrome Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. tmpte7i6ely_mondo_relaxed.owl neonatal onset multisystem inflammatory disease|CINCA syndrome|CINCA/NOMID|infantile onset multisystem inflammatory disease|chronic infantile neurological cutaneous articular syndrome|infantile-onset multisystem inflammatory disease|Cryopyrin-associated periodic syndrome 3|CINCA|chronic infantile neurological cutaneous and articular syndrome|NOMID|multisystem inflammatory disease, neonatal-onset|Prieur Griscelli syndrome|NOMID syndrome|cryopyrin-associated periodic syndrome 3|Prieur-Griscelli syndrome|neonatal-onset multisystem inflammatory disease|IOMID|chronic neurologic cutaneous and articular syndrome|IOMID syndrome ICD10:E85.0|Orphanet:1451|OMIM:607115|ICD9:759.89|GARD:0001356|SCTID:239826001|NCIT:C116380|DOID:0090029 owl:Class MONDO:0023094 biolink:NamedThing exogenous ochronosis Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. tmpte7i6ely_mondo_relaxed.owl ocular ochronosis|pseudo-ochronosis|exogenous ochronosis|ochronosis, acquired MESH:C531762|SCTID:410041002|ICD9:270.2|GARD:0010757 https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis owl:Class HGNC:18021 biolink:NamedThing TMC6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010656 biolink:NamedThing intellectual disability, X-linked 1 An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities. tmpte7i6ely_mondo_relaxed.owl X-linked intellectual disability 78|MRX|X-linked intellectual disability 1/78|mental retardation, X-linked type 1|MRX78|MRX1|IQSEC2-related epilepsy|mental retardation, X-linked 18|IQSEC2|mental retardation, X-linked 78|IQSEC2-related intellectual disability|mental retardation, X-linked 1|intellectual disability, X-linked 1|X-linked intellectual disability 1 MESH:C564489|OMIM:309530|GARD:0013221|NCIT:C133729|MESH:C567906 owl:Class ENVO:03520007 biolink:NamedThing snow crystal A water ice crystal which is constituted by water molecules aligned in a hexagonal array. tmpte7i6ely_mondo_relaxed.owl snowflake owl:Class MONDO:0010114 biolink:NamedThing thanatophoric dysplasia, Glasgow variant tmpte7i6ely_mondo_relaxed.owl neonatally lethal short-limb skeletal dysplasia, Glasgow type|thanatophoric dysplasia, Glasgow variant OMIM:273680|UMLS:C1848865|MESH:C536506|Orphanet:93275 owl:Class MONDO:0030553 biolink:NamedThing acromesomelic dysplasia 4 tmpte7i6ely_mondo_relaxed.owl AMD4 OMIM:619636 owl:Class MONDO:0001936 biolink:NamedThing brawny scleritis tmpte7i6ely_mondo_relaxed.owl DOID:14287|SCTID:91612009|ICD9:379.06|UMLS:C0155356|ICD10:H15.02 owl:Class MONDO:0011723 biolink:NamedThing hemifacial myohyperplasia Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities. tmpte7i6ely_mondo_relaxed.owl HMH|hemifacial myohyperplasia|hypertrophy and asymmetry of the facial muscles ICD9:744.89|OMIM:606773|SCTID:699420006|MESH:C535862|Orphanet:141148|GARD:0010084|ICD10:Q67.4 https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia owl:Class MONDO:0013918 biolink:NamedThing distal tetrasomy 15q tmpte7i6ely_mondo_relaxed.owl tetrasomy type 15Q26|tetrasomy 15q26|levy-Shanske syndrome|tetrasomy 15(q25-qter)|distal tetrasomy type 15q UMLS:C3553858|ICD10:Q99.8|Orphanet:314585|OMIM:614846|UMLS:CN203770|Orphanet:314588 owl:Class MONDO:0007172 biolink:NamedThing atrial septal defect 1 An atrial heart septal defect type 1 associated with variation in the region 5p. tmpte7i6ely_mondo_relaxed.owl ASD 2|atrial septal defect, primum type|atrial septal defect, secundum type|atrial heart septal defect type 1|atrial septal defect 1|ASD 1|ASD1 DOID:0110106|UMLS:C1862389|ICD10:Q21.1|OMIM:108800|Orphanet:1478 owl:Class HGNC:8533 biolink:NamedThing P2RX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017556 biolink:NamedThing Madelung deformity, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295221|ICD10:Q74.0 owl:Class MONDO:0044751 biolink:NamedThing chronic diarrheal disease Chronic form of diarrheal disease. tmpte7i6ely_mondo_relaxed.owl chronic diarrhea|diarrheal disease, chronic SCTID:236071009|UMLS:C0401151 owl:Class MONDO:0010465 biolink:NamedThing Kabuki syndrome 2 tmpte7i6ely_mondo_relaxed.owl KABUKI syndrome 2|KABUK2|Kabuki syndrome type 2|Kabuki syndrome 2 OMIM:300867|UMLS:C3275495|Orphanet:2322 owl:Class HGNC:19321 biolink:NamedThing NKX6-2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017301 biolink:NamedThing pericardial and diaphragmatic defect Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. tmpte7i6ely_mondo_relaxed.owl Orphanet:2847 owl:Class MONDO:0019880 biolink:NamedThing distal trisomy 5q Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). tmpte7i6ely_mondo_relaxed.owl trisomy 5qter|telomeric duplication 5q|distal duplication 5q|distal trisomy type 5q Orphanet:96097|SCTID:763274002|ICD10:Q92.3 owl:Class MONDO:0030338 biolink:NamedThing anencephaly 2 tmpte7i6ely_mondo_relaxed.owl anencephaly 2|ANPH2 OMIM:619452 owl:Class MONDO:0030302 biolink:NamedThing immunodeficiency 81 tmpte7i6ely_mondo_relaxed.owl immunodeficiency 81|IMD81 OMIM:619374 owl:Class MONDO:0002931 biolink:NamedThing conjunctivochalasis tmpte7i6ely_mondo_relaxed.owl DOID:4250|UMLS:C0878693|ICD10:H11.82|SCTID:408663001|ICD9:372.81 owl:Class MONDO:0012862 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl Adhd5|motor timing quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 5|attention deficit-hyperactivity disorder, susceptibility to, 5 OMIM:612311 owl:Class MONDO:0015728 biolink:NamedThing distal trisomy 15q tmpte7i6ely_mondo_relaxed.owl distal duplication 15q|telomeric duplication 15q|trisomy 15qter|distal trisomy type 15q MESH:C538036|Orphanet:1707|ICD10:Q92.3 owl:Class GO:0003940 biolink:NamedThing L-iduronidase activity Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. tmpte7i6ely_mondo_relaxed.owl glycosaminoglycan alpha-L-iduronohydrolase activity|alpha-L-iduronidase activity owl:Class MONDO:0023142 biolink:NamedThing fetal brain disruption sequence tmpte7i6ely_mondo_relaxed.owl GARD:0002297 https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence owl:Class CHEBI:65255 biolink:NamedThing food preservative Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes. tmpte7i6ely_mondo_relaxed.owl food preservatives owl:Class MONDO:0040753 biolink:NamedThing latent tuberculosis infection Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives. tmpte7i6ely_mondo_relaxed.owl inactive tuberculosis|tuberculosis infection latent|inactive TB|LTBI MESH:D055985|SCTID:11999007|UMLS:C1609538 owl:Class MONDO:0022435 biolink:NamedThing Mauriac syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. tmpte7i6ely_mondo_relaxed.owl dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome|Mauriac's syndrome|Mauriac syndrome NCIT:C130997|GTR:AN0543890|UMLS:C0221005|SCTID:80660001|ICD9:258.1|GTR:AN0543843 owl:Class GO:0050308 biolink:NamedThing sugar-phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. tmpte7i6ely_mondo_relaxed.owl sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity owl:Class MONDO:0011319 biolink:NamedThing activator of liver function 1 tmpte7i6ely_mondo_relaxed.owl ribosomal Protein L21 pseudogene 1|activator of liver function 1|RPL21P1|Half1|ribosomal PROTEIN L21 pseudogene 1|ALFN1|activator of liver function type 1 2022-05-01 OMIM:603416 Reason: out of scope. Term to consider: none owl:Class MONDO:0018969 biolink:NamedThing craniorachischisis Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. tmpte7i6ely_mondo_relaxed.owl cranial rachischisis|craniorachischisis|craniorachischisis (disease) craniorachischisis (disease) MedDRA:10011321|NCIT:C98907|ICD9:740.1|ICD10:Q00.1|GARD:0010504|HP:0030770|SCTID:32219008|UMLS:C0152426|Orphanet:63260 owl:Class MONDO:0015493 biolink:NamedThing lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:156156 owl:Class MONDO:0011936 biolink:NamedThing microphthalmia with brain and digit anomalies Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. tmpte7i6ely_mondo_relaxed.owl microphthalmia, syndromic type 6|microphthalmia, syndromic 6|microphthalmia with brain and digit developmental anomalies|MCOPS6|microphthalmia and pituitary anomalies|microphthalmia with brain and digit anomalies|Bakrania-Ragge syndrome|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|microphthalmia syndromic 6|syndromic microphthalmia type 6|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia GARD:0003645|ICD10:Q11.2|UMLS:C4303070|UMLS:C1864689|OMIM:607932|SCTID:721878003|Orphanet:139471|MESH:C566440 owl:Class MONDO:0010236 biolink:NamedThing intellectual disability, X-linked 14 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 14|MRX14|intellectual disability, X-linked nonspecific, type 14|mental retardation, X-linked nonspecific, type 14|intellectual disability, X-linked 14 Orphanet:777|OMIM:300062|MESH:C537454|GARD:0008557 owl:Class MONDO:0054582 biolink:NamedThing Townes-Brocks syndrome 2 tmpte7i6ely_mondo_relaxed.owl Townes-Brocks syndrome 2|TBS2 OMIM:617466 owl:Class MONDO:0024524 biolink:NamedThing dyschromatosis universalis hereditaria 1 tmpte7i6ely_mondo_relaxed.owl dyschromatosis universalis hereditaria 1|DUH1 UMLS:C2675711|OMIM:127500|Orphanet:241|MESH:C567273 owl:Class NCIT:C125581 biolink:NamedThing Pathology Result tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006184 biolink:NamedThing ductal breast carcinoma in situ and lobular carcinoma in situ The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion. tmpte7i6ely_mondo_relaxed.owl ductal and lobular carcinoma in situ of the breast|DCIS and LCIS of the breast|intraductal and lobular carcinoma in situ of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|non-invasive ductal and non-invasive lobular breast carcinoma|ductal and lobular breast carcinoma in situ|non-invasive ductal and non-invasive lobular carcinoma|intraductal carcinoma and lobular carcinoma in situ|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of breast|DCIS and LCIS of breast|non-infiltrating ductal and non-infiltrating lobular breast carcinoma|intraductal and lobular carcinoma in situ of the breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|non-invasive ductal with non-invasive lobular breast carcinoma|ductal and lobular carcinoma in situ of breast|intraductal and lobular breast carcinoma in situ|ductal carcinoma in situ with lobular carcinoma in situ of the breast ICDO:8522/2|EFO:1000221|UMLS:C0334383|NCIT:C4195 owl:Class MONDO:0011073 biolink:NamedThing diabetes mellitus, transient neonatal, 1 tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, transient neonatal, type 1|Tndm|Dmtn|diabetes mellitus, transient neonatal, 1|Tndm1 OMIM:601410|SCTID:609579009|MESH:C563322|Orphanet:99886 owl:Class MONDO:0010774 biolink:NamedThing striatonigral degeneration, infantile, mitochondrial tmpte7i6ely_mondo_relaxed.owl bilateral striatal Necrosis, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial|striatonigral degeneration, infantile, mitochondrial Orphanet:225154|OMIM:500003|UMLS:C1839022|MESH:C564025|Orphanet:1576 owl:Class CL:0011007 biolink:NamedThing paraxial cell A cell in the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites. tmpte7i6ely_mondo_relaxed.owl paraxial mesoderm cell|somitic mesoderm cell|presomitic mesoderm cell owl:Class GO:0001671 biolink:NamedThing ATPase activator activity Binds to and increases the activity of an ATP hydrolysis activity. tmpte7i6ely_mondo_relaxed.owl ATPase stimulator activity owl:Class MONDO:0004431 biolink:NamedThing hemarthrosis Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. tmpte7i6ely_mondo_relaxed.owl hemarthrosis involving pelvic region and thigh|hemarthrosis of the shoulder region|hemarthrosis involving ankle and foot|hemarthrosis of shoulder|haemarthrosis of the ankle and foot|hemarthrosis of the pelvic region and thigh|hemarthrosis involving hand|hemarthrosis of the hand|hemarthrosis of the ankle and foot|hemarthrosis of the forearm|hemarthrosis of the ankle and/or foot|hemarthrosis of the upper arm|hemarthrosis involving shoulder region|hemarthrosis of forearm|hemarthrosis of the lower leg|haemarthrosis of shoulder joint|hemarthrosis involving forearm|hemarthrosis of hand|hemarthrosis of lower leg|hemarthrosis involving upper arm|hemarthrosis of shoulder region|hemarthrosis involving lower leg|haemarthrosis of the pelvic region and thigh|hemarthrosis of ankle and/or foot|hemarthrosis of upper arm ICD9:719.18|EFO:1001344|ICD9:719.1|SCTID:81808003|UMLS:C0158159|ICD9:719.10|MESH:D006395|ICD10:M25.0|DOID:801 owl:Class MONDO:0006653 biolink:NamedThing anthracosilicosis Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. tmpte7i6ely_mondo_relaxed.owl MESH:D000874|EFO:1000813|SCTID:33548005|UMLS:C0003164|DOID:10324|MedDRA:10050363|ICD10:J60|CSP:2596-4484|NCIT:C34389 owl:Class HGNC:464 biolink:NamedThing AMH tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020535 biolink:NamedThing house allergic alveolitis House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. tmpte7i6ely_mondo_relaxed.owl Orphanet:99907|UMLS:C4511048|SCTID:725415009|ICD10:J67.8 owl:Class HGNC:2933 biolink:NamedThing DMPK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021137 biolink:NamedThing not rare tmpte7i6ely_mondo_relaxed.owl common owl:Class MONDO:0008930 biolink:NamedThing celiac disease, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl celiac sprue, susceptibility to, 1|susceptibility to celiac disease 1|gluten-sensitive enteropathy, susceptibility to, 1|celiac disease, susceptibility to, type 1|celiac disease, susceptibility to, 1|CELIAC1 OMIM:212750|UMLS:C0007570 owl:Class UBERON:0004118 biolink:NamedThing vasculature of iris tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005875 biolink:NamedThing 4th arch pharyngeal cleft tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008878 biolink:NamedThing palmar part of manus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014182 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 88 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 88|DFNB88|autosomal recessive nonsyndromic deafness type 88|deafness, autosomal recessive 88|autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|deafness, autosomal recessive type 88|ELMOD3 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 88 ICD10:H90.3|OMIM:615429|UMLS:C2829267|DOID:0110533 owl:Class MONDO:0009746 biolink:NamedThing hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. tmpte7i6ely_mondo_relaxed.owl HSAN4|congenital insensitivity to pain-anhidrosis syndrome|HSAN IV|neuropathy, congenital sensory, with anhidrosis|congenital insensitivity to pain with anhidrosis|hereditary sensory neuropathy type 4|CIP-anhidrosis syndrome|HSAN 4|hereditary sensory and autonomic neuropathy 4|CIPA|familial dysautonomia, type 2|hereditary sensory and autonomic neuropathy caused by mutation in NTRK1|insensitivity to pain, congenital, with anhidrosis|NTRK1 hereditary sensory and autonomic neuropathy|hereditary sensory and autonomic neuropathy type IV|HSNAN4|hereditary sensory neuropathy type IV NCIT:C118633|ICD10:G60.8|OMIM:256800|SCTID:62985007|GARD:3006|PMID:14272277|UMLS:C0020074|Orphanet:642|GARD:0003006|PMID:8696348|DOID:0070146 owl:Class MONDO:0009888 biolink:NamedThing polycystic kidney, cataract, and congenital blindness tmpte7i6ely_mondo_relaxed.owl polycystic kidney, cataract, and congenital blindness OMIM:263100|MESH:C564882|UMLS:C1849771 owl:Class MONDO:0007728 biolink:NamedThing acne inversa, familial, 1 Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. tmpte7i6ely_mondo_relaxed.owl NCSTN familial acne inversa|ACNINV1|acne inversa, familial|familial acne inversa caused by mutation in NCSTN|acne inversa, familial, type 1|hidradenitis suppurativa, familial|acne inversa, familial, 1 OMIM:142690|UMLS:CN028850 owl:Class HGNC:17091 biolink:NamedThing NCSTN tmpte7i6ely_mondo_relaxed.owl owl:Class PO:0006079 biolink:NamedThing shoot system meristem A portion of meristem tissue (PO:0009013) that is part of a shoot system (PO:0009006). tmpte7i6ely_mondo_relaxed.owl シュート分裂組織 (Japanese, exact)|meristema del epiblasto (epiblastema) (Spanish, exact) PO_GIT:472|PO_GIT:583 plant_anatomy owl:Class HGNC:2207 biolink:NamedThing COL4A5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18358 biolink:NamedThing IL17RC tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004781 biolink:NamedThing gall bladder lamina propria tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:127916 biolink:NamedThing Ichthyosporea tmpte7i6ely_mondo_relaxed.owl Mesomycetozoea|DRIP clade|Mesomycetozoa PMID:10449446|PMID:8876236|PMID:12142489|GC_ID:1 ncbi_taxonomy owl:Class HGNC:2202 biolink:NamedThing COL4A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020655 biolink:NamedThing juvenile ankylosing spondylitis tmpte7i6ely_mondo_relaxed.owl DOID:0040092|SCTID:239805001 owl:Class HGNC:6701 biolink:NamedThing LRPAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020798 biolink:NamedThing hypoparathyroidism, familial isolated, 2 tmpte7i6ely_mondo_relaxed.owl FIH2|hypoparathyroidism, familial isolated, 2 OMIM:618883 owl:Class UBERON:8410057 biolink:NamedThing capillary of colon tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012225 biolink:NamedThing Senior-Loken syndrome 5 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. tmpte7i6ely_mondo_relaxed.owl Senior-Loken syndrome type 5|SENIOR-Loken syndrome 5|IQCB1 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in IQCB1|SLSN5|Senior-Loken syndrome 5 OMIM:609254|MESH:C563763|Orphanet:3156|UMLS:C1836517 owl:Class MONDO:0060554 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 1 tmpte7i6ely_mondo_relaxed.owl vertebral, cardiac, renal, and limb defects syndrome 1|VCRL1|congenital NAD deficiency Disorder 1|3-hydroxyanthranilic acidemia UMLS:C4540004|OMIM:617660 owl:Class HGNC:4796 biolink:NamedThing HAAO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012691 biolink:NamedThing LEOPARD syndrome 2 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. tmpte7i6ely_mondo_relaxed.owl leopard syndrome 2|LPRD2|LEOPARD syndrome 2|Leopard syndrome type 2 DOID:0080549|Orphanet:500|MESH:C537117|OMIM:611554|UMLS:C1969056 owl:Class HGNC:26821 biolink:NamedThing CCDC141 tmpte7i6ely_mondo_relaxed.owl owl:Class N6b318c0f9891472ea883f89279f1187c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014738 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 69 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 69|deafness, autosomal dominant 69|DFNA69|DCUA|autosomal dominant deafness 69|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|KITLG autosomal dominant nonsyndromic deafness|deafness, congenital, unilateral or asymmetric|unilateral or asymmetric congenital deafness|autosomal dominant nonsyndromic deafness type 69 ICD10:H90.3|UMLS:C4225241|DOID:0110590|OMIM:616697 owl:Class HGNC:452 biolink:NamedThing AMBN tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013087 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 2 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene. tmpte7i6ely_mondo_relaxed.owl bronchiectasis caused by mutation in SCNN1A|bronchiectasis with or without elevated sweat chloride 2|cystic fibrosis-like syndrome|BESC2|bronchiectasis with or without elevated sweat chloride type 2|SCNN1A bronchiectasis DOID:0080527|Orphanet:60033|MESH:C567813|OMIM:613021|UMLS:C2751666 owl:Class HGNC:10599 biolink:NamedThing SCNN1A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3374 biolink:NamedThing EPAS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2328 biolink:NamedThing CPT1A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003094 biolink:NamedThing glomerular filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013235 biolink:NamedThing ventrum tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12637 biolink:NamedThing KDM6A tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0002804 biolink:NamedThing left limbic lobe tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10979 biolink:NamedThing SLC25A1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0015917 biolink:NamedThing superficial lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19353 biolink:NamedThing SIN3A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014396 biolink:NamedThing dilated cardiomyopathy 1NN Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene. tmpte7i6ely_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in RAF1|dilated cardiomyopathy type 1NN|cardiomyopathy, dilated, 1NN|cardiomyopathy, dilated, type 1Nn|RAF1 familial isolated dilated cardiomyopathy|CMD1NN ICD10:I42.0|UMLS:C4014656|OMIM:615916|DOID:0110432 owl:Class MONDO:0010385 biolink:NamedThing X-linked lymphoproliferative disease due to XIAP deficiency A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. tmpte7i6ely_mondo_relaxed.owl XIAP deficiency|Xiap deficiency|XLP2|X-linked lymphoproliferative syndrome type 2|XIAP-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative disease due to XIAP deficiency|lymphoproliferative syndrome, X-linked, type 2|lymphoproliferative syndrome, X-linked, 2|XIAP deficiency/XLPs OMIM:300635|Orphanet:538934|DOID:0060706|GARD:0010916|MESH:C564469|Orphanet:2442|UMLS:C1845076|NCIT:C126295|ICD10:D82.3 https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2 owl:Class HGNC:592 biolink:NamedThing XIAP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012291 biolink:NamedThing immunoglobulin A deficiency 2 Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. tmpte7i6ely_mondo_relaxed.owl selective IgA deficiency disease caused by mutation in TNFRSF13B|Immunoglobulin A, selective deficiency of, TACI related|Immunoglobulin a deficiency type 2|IgA, selective deficiency of, TACI-related|IgA, selective deficiency of, TACI related|IMMUNOGLOBULIN A deficiency 2|TNFRSF13B selective IgA deficiency disease|Immunoglobulin A, selective deficiency of, TACI-related|IGAD2|immunoglobulin a deficiency 2 OMIM:609529|MESH:C536291|UMLS:C1836032|GARD:0010198 https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2 owl:Class MONDO:0044687 biolink:NamedThing chronic relapsing inflammatory optic neuropathy tmpte7i6ely_mondo_relaxed.owl CRION|chronic recurrent isolated optic neuritis Orphanet:499085 owl:Class MONDO:0014282 biolink:NamedThing hereditary spastic paraplegia 72 Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 72, autosomal recessive|autosomal spastic paraplegia type 72|REEP2 pure hereditary spastic paraplegia|pure hereditary spastic paraplegia caused by mutation in REEP2|spastic paraplegia 72, autosomal dominant|hereditary spastic paraplegia type 72|SPG72 UMLS:C3810160|DOID:0110817|ICD10:G11.4|OMIM:615625|Orphanet:401849 Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance owl:Class MONDO:0011208 biolink:NamedThing malignant atrophic papulosis Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. tmpte7i6ely_mondo_relaxed.owl Degos syndrome|papulosis atrophican maligna|atrophic papulosis, malignant|papulosis, malignant atrophic|malignant atrophic papulosis|Kohlmeier-Degos-Delort-Tricort syndrome|Köhlmeier-Degos-Delort-Tricort syndrome|Köhlmeier-Degos disease|Degos disease|Degos's malignant atrophic papulosis|Kohlmeier-Degos disease SCTID:400171002|GARD:0006249|ICD9:447.8|ICD10:I77.8|MESH:D054853|UMLS:C0221011|OMIM:602248|MedDRA:10064281|NCIT:C84835|Orphanet:679 owl:Class MONDO:0001780 biolink:NamedThing premature ejaculation A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it. tmpte7i6ely_mondo_relaxed.owl premature ejaculation|premature ejaculation (disease) premature ejaculation (disease) ICD9:302.75|HP:0012876|NCIT:C94349|MESH:D061686|DOID:13709|ICD10:F52.4 owl:Class HGNC:11277 biolink:NamedThing SPTLC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008102 biolink:NamedThing sick sinus syndrome 2, autosomal dominant Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene. tmpte7i6ely_mondo_relaxed.owl sinus bradycardia syndrome, familial, autosomal dominant|sick sinus syndrome 2|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|sick sinus syndrome caused by mutation in HCN4|HCN4 sick sinus syndrome|atrial fibrillation with Bradyarrhythmia|sinus node disease, familial, autosomal dominant|Sss, autosomal dominant|sick sinus syndrome 2, autosomal dominant|SSS2 Orphanet:166282|OMIM:163800|UMLS:C1834144|MESH:C563513 owl:Class MONDO:0011153 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 2 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. tmpte7i6ely_mondo_relaxed.owl hyperinsulinism, familial|HHF2|hyperinsulinism, neonatal|KCNJ11 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia, familial, 2|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|hyperinsulinemic hypoglycemia, persistent|Nesidioblastosis|hyperinsulinemic hypoglycemia familial 2|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinemic hypoglycemia, familial, type 2|hyperinsulinism, congenital GARD:0009927|DOID:0070218|OMIM:601820|Orphanet:276603|UMLS:C2931833|Orphanet:79644|Orphanet:276580 https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 owl:Class MONDO:0000706 biolink:NamedThing chemical colitis A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically. tmpte7i6ely_mondo_relaxed.owl ICD10:K52|DOID:0060186|ICD9:558.9|SCTID:72965009|ICD9:558 owl:Class HGNC:17063 biolink:NamedThing RAB3GAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012309 biolink:NamedThing parietal foramina 2 Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene. tmpte7i6ely_mondo_relaxed.owl parietal foramina 2|PFM2|ALX4 parietal foramina|parietal foramina type 2|parietal foramina caused by mutation in ALX4 Orphanet:60015|UMLS:C1865044|MESH:C566510|OMIM:609597 owl:Class CHEBI:10545 biolink:NamedThing electron Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. tmpte7i6ely_mondo_relaxed.owl electron|Elektron|negatron|beta-particle|e-|e(-)|beta|beta(-)|e owl:Class UBERON:0036343 biolink:NamedThing wall of gallbladder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003976 biolink:NamedThing malignant type AB thymoma A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. tmpte7i6ely_mondo_relaxed.owl malignant thymoma type AB|malignant type AB thymoma|thymoma, mixed type, malignant|thymoma type AB, malignant UMLS:C1266093|NCIT:C6886|DOID:6723|ICDO:8582/3 owl:Class HGNC:27232 biolink:NamedThing C8orf37 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0003867 biolink:NamedThing 4-aminobutyrate transaminase activity Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. tmpte7i6ely_mondo_relaxed.owl GABA aminotransferase activity|gamma-aminobutyrate aminotransaminase activity|gamma-amino-N-butyrate transaminase activity|glutamate-succinic semialdehyde transaminase activity|gamma-aminobutyric transaminase activity|4-aminobutanoate transaminase activity|beta-alanine aminotransferase|gamma-aminobutyric acid transaminase activity|aminobutyrate aminotransferase activity|4-aminobutyrate aminotransferase activity|gamma-aminobutyrate transaminase activity|GABA transaminase activity|gamma-aminobutyric acid aminotransferase activity|aminobutyrate transaminase activity|4-aminobutyric acid aminotransferase activity|GABA transferase activity owl:Class MONDO:0014135 biolink:NamedThing pulmonary hypertension, primary, 3 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. tmpte7i6ely_mondo_relaxed.owl PPH3|pulmonary hypertension, primary, type 3|CAV1 primary pulmonary hypertension|primary pulmonary hypertension caused by mutation in CAV1|pulmonary hypertension, primary, 3 Orphanet:422|OMIM:615343|UMLS:C3809192 owl:Class CL:0002016 biolink:NamedThing CD71-low, GlyA-positive polychromatic erythroblast A polychromatiic erythroblast that is Gly-A-positive and CD71-low. tmpte7i6ely_mondo_relaxed.owl Cell surface markers are associated with human cells. tmeehan 2010-04-26T10:53:16Z cell owl:Class UBERON:0003120 biolink:NamedThing pharyngeal arch artery 3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014435 biolink:NamedThing Bardet-Biedl syndrome 7 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome type 7|Bardet-Biedl syndrome caused by mutation in BBS7|BBS7|Bardet-Biedl syndrome 7|BBS7 Bardet-Biedl syndrome EFO:0009026|MESH:C565916|ICD10:Q87.89|GARD:0010206|OMIM:615984|DOID:0110129|UMLS:C1859565|OMIM:209900 https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7 owl:Class UBERON:0001824 biolink:NamedThing mucosa of larynx tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2195 biolink:NamedThing COL18A1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23406 biolink:NamedThing DOLK tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0032432 biolink:NamedThing actin filament bundle An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. tmpte7i6ely_mondo_relaxed.owl actin cable owl:Class HP:0001541 biolink:NamedThing Ascites Accumulation of fluid in the peritoneal cavity. tmpte7i6ely_mondo_relaxed.owl Accumulation of fluid in the abdomen MSH:D001201|UMLS:C0003962|SNOMEDCT_US:389026000 Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. human_phenotype owl:Class HGNC:4180 biolink:NamedThing GBE1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015900 biolink:NamedThing hypoaldosteronism disease tmpte7i6ely_mondo_relaxed.owl rare hypoaldosteronism|hypoaldosteronism MESH:D006994|Orphanet:181419|ICD10:E27.4|UMLS:C0020595|GARD:0002874|SCTID:60086000 Editor note: we place the GARD class here as it is implicitly rare owl:Class MONDO:0013564 biolink:NamedThing anhaptoglobinemia tmpte7i6ely_mondo_relaxed.owl anhaptoglobinemia|Ahaptoglobinemia|ANHAPTOGLOBINEMIA|hypohaptoglobinemia|AHP UMLS:C3279786|OMIM:614081 owl:Class HGNC:5141 biolink:NamedThing HP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014984 biolink:NamedThing lung disease, immunodeficiency, and chromosome breakage syndrome; tmpte7i6ely_mondo_relaxed.owl lung disease, immunodeficiency, and chromosome breakage syndrome|LICS UMLS:C4310653|OMIM:617241 owl:Class HGNC:7677 biolink:NamedThing NSMCE3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012826 biolink:NamedThing Moderate Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. tmpte7i6ely_mondo_relaxed.owl UMLS:C0205081|SNOMEDCT_US:6736007|SNOMEDCT_US:446421000124109 PATO:0000395, moderate. peter 2014-06-06T06:48:12Z human_phenotype owl:Class HGNC:16912 biolink:NamedThing EMG1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004614 biolink:NamedThing phosphoglucomutase activity Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. tmpte7i6ely_mondo_relaxed.owl phosphoglucose mutase activity|alpha-D-glucose 1,6-phosphomutase activity|glucose phosphomutase activity owl:Class MONDO:0013139 biolink:NamedThing neutropenia, severe congenital, 2, autosomal dominant Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant severe congenital neutropenia caused by mutation in GFI1|GFI1 autosomal dominant severe congenital neutropenia|SCN2|neutropenia, severe congenital, 2, autosomal dominant UMLS:C2751288|Orphanet:486|MESH:C567748|OMIM:613107 owl:Class HGNC:11916 biolink:NamedThing TNFRSF1A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8855 biolink:NamedThing PEX13 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7106 biolink:NamedThing ATXN3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001171 biolink:NamedThing acute salpingo-oophoritis Acute form of salpingo-oophoritis. tmpte7i6ely_mondo_relaxed.owl acute salpingitis and oophoritis|salpingo-oophoritis, acute UMLS:C0156327|ICD9:614.0|ICD10:N70.0|DOID:10971|SCTID:266581008|ICD10:N70.03 owl:Class HGNC:40 biolink:NamedThing ABCB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013920 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 3 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene. tmpte7i6ely_mondo_relaxed.owl herpes simplex encephalitis caused by mutation in TRAF3|Herpes simplex encephalitis, susceptibility to, type 3|TRAF3 herpes simplex encephalitis|IIAE5|herpes simplex encephalitis, susceptibility to, 3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5|encephalopathy, acute, infection-induced, susceptibility to, 5 Orphanet:1930|OMIM:614849 owl:Class MONDO:0017698 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form tmpte7i6ely_mondo_relaxed.owl GSD type 4, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|GSDIV, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|glycogen storage disease type IV, congenital neuromuscular form|glycogen storage disease type 4, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form ICD10:E74.0|UMLS:C1856304|Orphanet:308670|OMIM:232500 owl:Class MONDO:0014437 biolink:NamedThing Bardet-Biedl syndrome 9 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome type 9|Bardet-Biedl syndrome 9|BBS9|Bardet-Biedl syndrome caused by mutation in BBS9|BBS9 Bardet-Biedl syndrome ICD10:Q87.89|OMIM:615986|UMLS:C1859567|EFO:0009027|MESH:C565918|OMIM:209900|DOID:0110131|GARD:0010208 https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9 owl:Class HP:0000822 biolink:NamedThing Hypertension The presence of chronic increased pressure in the systemic arterial system. tmpte7i6ely_mondo_relaxed.owl Arterial hypertension|Systemic hypertension|High blood pressure MSH:D006973|UMLS:C0497247|SNOMEDCT_US:38341003|SNOMEDCT_US:24184005|UMLS:C0020538 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. HP:0005126|HP:0004949 human_phenotype owl:Class NCBITaxon:10310 biolink:NamedThing Human alphaherpesvirus 2 tmpte7i6ely_mondo_relaxed.owl Herpes simplex virus type 2 (HSV-2)|herpes simplex virus type 2 HSV-2|Herpes simplex virus type 2|HSV2|Herpes simplex virus II|Human herpesvirus 2|Herpes simplex virus (type 2)|Herpes simplex virus 2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016659 biolink:NamedThing 8p23.1 duplication syndrome 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). tmpte7i6ely_mondo_relaxed.owl trisomy 8p23.1|dup(8)(p23.1p23.1) ICD10:Q92.3|Orphanet:251076|UMLS:CN201889|SCTID:765140006|GARD:0010304 https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome owl:Class UBERON:0015149 biolink:NamedThing ventral hair tmpte7i6ely_mondo_relaxed.owl owl:Class Ned02ef90958c421ca84ca69f833bc2ed biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ENVO:01000887 biolink:NamedThing area of sedge- and forb-dominated herbaceous vegetation An area of a planet's surface which is primarily covered by sedges or forbs, possibly interpersed with grasses or grass-like plants. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000268 biolink:NamedThing atmospheric water vapour Atmospheric water vapour is water vapour that is part of an atmosphere. tmpte7i6ely_mondo_relaxed.owl atmospheric water vapor owl:Class GO:0043129 biolink:NamedThing surfactant homeostasis Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007306 biolink:NamedThing Klippel-Feil syndrome 1, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene. tmpte7i6ely_mondo_relaxed.owl Klippel-Feil syndrome 1, autosomal dominant|cervical vertebral fusion, autosomal dominant|Kfs|isolated Klippel-Feil syndrome caused by mutation in GDF6|Klippel-FEIL syndrome 1, autosomal dominant|KFS1|GDF6 isolated Klippel-Feil syndrome UMLS:C1861689|OMIM:118100|DOID:0080589|MESH:C536887|Orphanet:2345 owl:Class HP:0002607 biolink:NamedThing Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. tmpte7i6ely_mondo_relaxed.owl Fecal incontinence|Faecal incontinence|Anal incontinence|Loss of bowel control UMLS:C0015732|MSH:D005242|SNOMEDCT_US:72042002 HP:0007147 human_phenotype owl:Class MONDO:0014042 biolink:NamedThing left ventricular noncompaction 7 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene. tmpte7i6ely_mondo_relaxed.owl MIB1 left ventricular noncompaction|left ventricular noncompaction type 7|left ventricular noncompaction 7|left ventricular noncompaction caused by mutation in MIB1|LVNC7 Orphanet:54260|OMIM:615092|UMLS:C3554496 owl:Class HGNC:1773 biolink:NamedThing CDK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014485 biolink:NamedThing pontocerebellar hypoplasia, type 1C Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene. tmpte7i6ely_mondo_relaxed.owl PCH1C|EXOSC8 pontocerebellar hypoplasia type 1|hypomyelination with spinal muscular atrophy and cerebellar hypoplasia|pontocerebellar hypoplasia, type 1C|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8 UMLS:C4015160|OMIM:616081|Orphanet:2254 owl:Class HGNC:17035 biolink:NamedThing EXOSC8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005947 biolink:NamedThing rickettsial pneumonia Pneumonia caused by infection with bacteria of the family rickettsiaceae. tmpte7i6ely_mondo_relaxed.owl Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia UMLS:C0032307|SCTID:233621003|MESH:D011022|ICD9:484.8|EFO:0007472 owl:Class MONDO:0014247 biolink:NamedThing familial episodic pain syndrome with predominantly lower limb involvement A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. tmpte7i6ely_mondo_relaxed.owl FEPS3|episodic pain syndrome, familial, type 3|episodic pain syndrome, familial, 3 Orphanet:391392|NCIT:C125390|Orphanet:391384|UMLS:C3809899|OMIM:615552|ICD10:M79.6 owl:Class MONDO:0003950 biolink:NamedThing nipple carcinoma A carcinoma that arises from epithelial cells of the nipple tmpte7i6ely_mondo_relaxed.owl nipple cancer|carcinoma of nipple|nipple carcinoma NCIT:C28432|DOID:6629|UMLS:C1334966 owl:Class HGNC:16905 biolink:NamedThing KLHL41 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024305 biolink:NamedThing acquired hyperprolactinemia An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired hyperprolactinemia (disease)|Chiari-Frommel syndrome|hyperprolactinemia|pregnancy-related A-G syndrome ICD10:E22.1|DOID:12700 owl:Class FOODON:03411374 biolink:NamedThing crustacean Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean] tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005673 biolink:NamedThing left lung endothelium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015008 biolink:NamedThing amelogenesis imperfecta, type 1J tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta, type 1J|amelogenesis imperfecta, type Ij|AI1J OMIM:617297 owl:Class MONDO:0013555 biolink:NamedThing Hermansky-Pudlak syndrome 3 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. tmpte7i6ely_mondo_relaxed.owl HPS3|HPS3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome caused by mutation in HPS3|Hermansky-Pudlak syndrome type 3 Orphanet:231512|OMIM:614072|Orphanet:79430|UMLS:C3888001|DOID:0060541 owl:Class UBERON:0011234 biolink:NamedThing fibrous membrane of synovial tendon sheath tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9896 biolink:NamedThing RBM10 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:8959 biolink:NamedThing PIGB tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7863 biolink:NamedThing NNT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012625 biolink:NamedThing retinitis pigmentosa 37 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa caused by mutation in NR2E3|RP37|retinitis pigmentosa 37|retinitis pigmentosa type 37|NR2E3 retinitis pigmentosa DOID:0110399|OMIM:611131|ICD10:H35.5|Orphanet:791|MESH:C567005|UMLS:C1970163 owl:Class HP:0000037 biolink:NamedThing Male pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. tmpte7i6ely_mondo_relaxed.owl MSH:D058490|SNOMEDCT_US:111332007|UMLS:C0238395 human_phenotype owl:Class UBERON:0008716 biolink:NamedThing hilum of kidney tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000726 biolink:NamedThing exposure to allergen An exposure to allergen. tmpte7i6ely_mondo_relaxed.owl exposure to allergen owl:Class MONDO:0013726 biolink:NamedThing encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 tmpte7i6ely_mondo_relaxed.owl DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect|lethal encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|EMPF1|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|EMPF|encephalopathy due to defective mitochondrial and peroxisomal fission 1 OMIM:614388|Orphanet:330050|ICD10:G31.8|UMLS:C3280660|DOID:0070347 owl:Class MONDO:0012834 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 10 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene. tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 10|susceptibility to systemic lupus erythematosus 10|IRF5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 10|SLEB10|systemic lupus erythematosus (disease) caused by mutation in IRF5 OMIM:612251 owl:Class MONDO:0018712 biolink:NamedThing composite hemangioendothelioma An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia. tmpte7i6ely_mondo_relaxed.owl composite hemangioendothelioma UMLS:C1304513|Orphanet:458758|UMLS:CN242120|ICD10:D18.0|NCIT:C45475|SCTID:403984006 owl:Class MONDO:0010014 biolink:NamedThing craniometadiaphyseal dysplasia, wormian bone type Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. tmpte7i6ely_mondo_relaxed.owl CRANIOMETADIAPHYSEAL dysplasia|CRMDD|Schwartz-Lelek syndrome SCTID:278833002|OMIM:269300|ICD10:Q78.8|Orphanet:85184 OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. owl:Class NCBITaxon:55194 biolink:NamedThing Malassezia furfur tmpte7i6ely_mondo_relaxed.owl Saccharomyces ovalis|Pityriasis (Tinea) versicolor infection agent|Pityrosporum orbiculare|Pityrosporum ovale GC_ID:1 ncbi_taxonomy owl:Class HGNC:3553 biolink:NamedThing FAAH tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005584 biolink:NamedThing collagen type I trimer A collagen trimer containing alpha(I) chains. The most common form of type I collagen is a heterotrimer containing two alpha1(I) chains and one alpha2(I) chain; homotrimers containing three alpha1(I) chains are also found. Type I collagen triple helices associate to form banded fibrils. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014481 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 2 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. tmpte7i6ely_mondo_relaxed.owl inflammatory skin and bowel disease, neonatal, 2|EGFR neonatal inflammatory skin and bowel disease|NISBD2|neonatal inflammatory skin and bowel disease caused by mutation in EGFR|inflammatory skin and bowel disease, neonatal, type 2 Orphanet:294023|OMIM:616069|UMLS:C4015130 owl:Class MONDO:0018324 biolink:NamedThing adult-onset myasthenia gravis Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. tmpte7i6ely_mondo_relaxed.owl adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis ICD10:G70.0|Orphanet:391490 owl:Class MONDO:0014969 biolink:NamedThing isolated sedoheptulokinase deficiency tmpte7i6ely_mondo_relaxed.owl isolated SHPK deficiency|SHPKD|sedoheptulokinase deficiency OMIM:617213|UMLS:C1291373|ICD9:277.6|Orphanet:440713|SCTID:124309005 owl:Class NCBITaxon:34390 biolink:NamedThing Epidermophyton tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005481 biolink:NamedThing contact dermatitis due to nickel A form of allergic contact dermatitis that results from exposure to nickel tmpte7i6ely_mondo_relaxed.owl UMLS:C0684345|SCTID:93419003|EFO:0005320 owl:Class UBERON:0001554 biolink:NamedThing skin of hip tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:28557 biolink:NamedThing KLHDC8B tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001478 biolink:NamedThing gaseous astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25439 biolink:NamedThing TANGO2 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005656 biolink:NamedThing lens vesicle epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11654 biolink:NamedThing TCOF1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1000274 biolink:NamedThing trophectodermal cell tmpte7i6ely_mondo_relaxed.owl trophectoderm cell cell owl:Class MONDO:0011894 biolink:NamedThing Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. tmpte7i6ely_mondo_relaxed.owl NEFL Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2E|Charcot Marie Tooth disease type 2E|CMT2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL|Charcot-Marie-Tooth neuropathy type 2E|CMT 2E|Charcot-Marie-Tooth neuropathy, type 2E|Charcot-Marie-Tooth disease, axonal, type 2E DOID:0110165|MESH:C537994|NCIT:C134953|ICD10:G60.0|SCTID:717012004|GARD:0009193|OMIM:607684|Orphanet:99939 https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e owl:Class HGNC:9647 biolink:NamedThing PTPN14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009329 biolink:NamedThing pulmonary venoocclusive disease 2 A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. tmpte7i6ely_mondo_relaxed.owl pulmonary venoocclusive disease 2, autosomal recessive|pulmonary capillary hemangiomatosis|familial pulmonary capillary hemangiomatosis|PVOD2|hemangiomatosis, familial pulmonary capillary OMIM:234810|MESH:C535861|GARD:0008527|ICD10:D18.0|ICD9:416.8|UMLS:C0340548|SCTID:233949008|Orphanet:199241 Editor note: check ORDO class - not clear if it intends to be the same as PVOD2 owl:Class CL:0000656 biolink:NamedThing primary spermatocyte A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes. tmpte7i6ely_mondo_relaxed.owl BTO:0001115|CALOHA:TS-2194|FMA:72292 cell owl:Class MONDO:0018806 biolink:NamedThing primary intrahepatic lithiasis tmpte7i6ely_mondo_relaxed.owl primary hepatolithiasis|PIHL Orphanet:480506 owl:Class MONDO:0013873 biolink:NamedThing IMAGe syndrome IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities|IMAGe syndrome Orphanet:85173|GARD:0012312|DOID:0050885|ICD10:Q87.1|OMIM:614732|ICD9:759.89|SCTID:702384004|UMLS:C1846009|NCIT:C130988 https://rarediseases.info.nih.gov/diseases/12312/image-syndrome owl:Class HGNC:15459 biolink:NamedThing P2RX2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:105 biolink:NamedThing CNNM4 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0006518 biolink:NamedThing right lung lobe tmpte7i6ely_mondo_relaxed.owl owl:Class N5af757e42add48eb822fe73e6d129e28 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:11391 biolink:NamedThing AURKC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014699 biolink:NamedThing intellectual disability, autosomal dominant 40 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene. tmpte7i6ely_mondo_relaxed.owl intellectual disability, autosomal dominant type 40|MRD40|autosomal dominant intellectual disability 40|intellectual disability, autosomal dominant 40|mental retardation, autosomal dominant type 40|autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1|autosomal dominant non-syndromic intellectual disability 40|mental retardation, autosomal dominant 40|CHAMP1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 40 DOID:0070070|OMIM:616579|UMLS:C4225275 owl:Class MONDO:0013761 biolink:NamedThing childhood encephalopathy due to thiamine pyrophosphokinase deficiency tmpte7i6ely_mondo_relaxed.owl encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)|childhood encephalopathy due to thiamine pyrophosphokinase deficiency|THMD5 OMIM:614458|Orphanet:293955|UMLS:C3280866 owl:Class MONDO:0013951 biolink:NamedThing peroxisome biogenesis disorder 12A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 12A (Zellweger)|Cg14|peroxisome biogenesis disorder, complementation group J|peroxisome biogenesis disorder, complementation group 14|PBD12A|Cgj UMLS:C3554002|DOID:0080486|OMIM:614886 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:7897 biolink:NamedThing NPC1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011220 biolink:NamedThing Prominent forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. tmpte7i6ely_mondo_relaxed.owl Prominent forehead|Bulging forehead|Prominence of frontal region|Protruding forehead|Pronounced forehead UMLS:C1867446|UMLS:C1837260 Not to be confused with frontal bossing. peter 2011-12-07T09:49:36Z HP:0200061 human_phenotype owl:Class MONDO:0014324 biolink:NamedThing pachyonychia congenita 3 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. tmpte7i6ely_mondo_relaxed.owl pachyonychia congenita type 3|pachyonychia congenita caused by mutation in KRT6A|pachyonychia congenita 3|PC3|KRT6A pachyonychia congenita Orphanet:2309|UMLS:C3714948|OMIM:615726 owl:Class MONDO:0005186 biolink:NamedThing cocaine dependence A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance. tmpte7i6ely_mondo_relaxed.owl cocaine addiction DOID:9975|ICD9:304.20|NCIT:C34492|ICD10:F14.2|SCTID:31956009|EFO:0002610|ICD9:304.2 owl:Class UBERON:0005243 biolink:NamedThing interventricular septum endocardium tmpte7i6ely_mondo_relaxed.owl owl:Class N34776c3ce28249d0ad25dc0d231a3477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008120 biolink:NamedThing spinocerebellar ataxia type 7 Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. tmpte7i6ely_mondo_relaxed.owl OPCA 3|autosomal dominant cerebellar ataxia, type 2|Adca, type 2|ataxia with pigmentary retinopathy|cerebellar syndrome-pigmentary maculopathy syndrome|ATXN7 autosomal dominant cerebellar ataxia type II|OPCA III|spinocerebellar ataxia type 7|OPCA3|ADCA, type II|SCA7|OPCA with retinal Degeneration|spinocerebellar ataxia 7|olivopontocerebellar atrophy 3|OPCA with macular Degeneration and external ophthalmoplegia|autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7 ICD10:G11.8|DOID:0050958|OMIM:164500|UMLS:C0752125|Orphanet:94147|NCIT:C126562|SCTID:715726000|GARD:0004955 owl:Class HGNC:4283 biolink:NamedThing GJB1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042827 biolink:NamedThing platelet dense granule Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. tmpte7i6ely_mondo_relaxed.owl bull's eye body|platelet dense body owl:Class MONDO:0012046 biolink:NamedThing congenital corneal opacities, cornea guttata, and corectopia tmpte7i6ely_mondo_relaxed.owl congenital corneal opacities, cornea guttata, and corectopia|corneal opacities, congenital, with cornea guttata and corectopia UMLS:C1837970|MESH:C563921|OMIM:608484 owl:Class HGNC:11359 biolink:NamedThing STAR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010350 biolink:NamedThing premature ovarian failure 2A Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. tmpte7i6ely_mondo_relaxed.owl POF2A|premature ovarian failure 2A|primary ovarian failure caused by mutation in DIAPH2|premature ovarian failure type 2A|DIAPH2 primary ovarian failure MESH:C564498|UMLS:C1845293|OMIM:300511 owl:Class HGNC:2877 biolink:NamedThing DIAPH2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:42408 biolink:NamedThing Neotoma albigula tmpte7i6ely_mondo_relaxed.owl white-throated woodrat GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008031 biolink:NamedThing facioscapulohumeral muscular dystrophy 2 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene. tmpte7i6ely_mondo_relaxed.owl FSHD2|facioscapulohumeral muscular dystrophy type 2|Fshd2, digenic|muscular dystrophy, facioscapulohumeral, type 1B|SMCHD1 facioscapulohumeral muscular dystrophy|facioscapulohumeral muscular dystrophy 2|facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1|facioscapulohumeral muscular dystrophy 2, digenic|muscular dystrophy, facioscapulohumeral, type 2 UMLS:C1834671|OMIM:158901|DOID:0111193|NCIT:C172705|Orphanet:269|MESH:C563557 owl:Class HGNC:9725 biolink:NamedThing PYGL tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:11152 biolink:NamedThing Turkey coronavirus tmpte7i6ely_mondo_relaxed.owl TCV|Turkey enteric coronavirus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013749 biolink:NamedThing metaphysis of humerus tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0030276 biolink:NamedThing lumbar spinal cord ventral horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013236 biolink:NamedThing pancreatic cancer, susceptibility to, 3 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to pancreatic cancer 3|Pnca3|PALB2 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, type 3|pancreatic cancer, susceptibility to, 3|familial pancreatic carcinoma caused by mutation in PALB2 OMIM:613348|Orphanet:1333 owl:Class UBERON:0035764 biolink:NamedThing pulmonary lymph node tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:45258 biolink:NamedThing Rickettsia conorii subsp. israelensis tmpte7i6ely_mondo_relaxed.owl Israeli tick typhus rickettsia GC_ID:11|PMID:15766388 NCBITaxon:317864 ncbi_taxonomy owl:Class HGNC:19181 biolink:NamedThing KIF14 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000987 biolink:NamedThing cholesterolosis of gallbladder A disorder characterized by a change in the gallbladder wall due to excess cholesterol. tmpte7i6ely_mondo_relaxed.owl strawberry gallbladder SCTID:61565001|UMLS:C0152456|ICD10:K82.4|DOID:10254|ICD9:575.6 owl:Class HGNC:2040 biolink:NamedThing CLDN19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0700090 biolink:NamedThing epilepsy, familial temporal lobe, 1 An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations. tmpte7i6ely_mondo_relaxed.owl epilepsy, partial, with auditory features|epilepsy, lateral temporal lobe, autosomal dominant|ETL1|epilepsy, familial temporal lobe, type 1 NCIT:C141441|OMIM:600512 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/2614 owl:Class MONDO:0000489 biolink:NamedThing diabetic encephalopathy A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. tmpte7i6ely_mondo_relaxed.owl DOID:0050850 owl:Class CHEBI:73181 biolink:NamedThing EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor An EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11). tmpte7i6ely_mondo_relaxed.owl L-ascorbic acid-specific peroxidase inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitors|ascorbic acid peroxidase inhibitors|ascorbate peroxidase inhibitors|L-ascorbic acid peroxidase inhibitor|L-ascorbate peroxidase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitors|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitor|L-ascorbate peroxidase inhibitor|L-ascorbic acid peroxidase inhibitors|EC 1.11.1.11 inhibitors|ascorbate peroxidase inhibitor|ascorbic acid peroxidase inhibitor|EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors|EC 1.11.1.11 inhibitor|L-ascorbate peroxidase (EC 1.11.1.11) inhibitor|L-ascorbic acid-specific peroxidase inhibitors owl:Class HGNC:7458 biolink:NamedThing MT-ND3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26498 biolink:NamedThing ZNF513 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100092 biolink:NamedThing myoclonus, familial, 2 Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. tmpte7i6ely_mondo_relaxed.owl MYOCL2 OMIM:618364 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013507 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 tmpte7i6ely_mondo_relaxed.owl CDG3|granulomatous disease, chronic, due to Ncf4 deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3|CGD, autosomal recessive cytochrome B-positive, type 3 UMLS:C3151409|OMIM:613960|Orphanet:379|DOID:0070194 owl:Class MONDO:0016216 biolink:NamedThing adult hepatocellular carcinoma Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. tmpte7i6ely_mondo_relaxed.owl adult primary liver cell carcinoma|adult primary carcinoma of the liver cell|adult HCC|hepatocellular carcinoma of adults|adult hepatoma|adult hepatocellular carcinoma|hepatocellular cancer|adult primary hepatoma|adult primary hepatocellular carcinoma|adult primary carcinoma of liver cell UMLS:C0279607|DOID:0070328|Orphanet:210159|ICD10:C22.0|NCIT:C7956|UMLS:CN200978 owl:Class MONDO:0001698 biolink:NamedThing tinea profunda A dermatophytosis that involves the deep dermal layers. tmpte7i6ely_mondo_relaxed.owl granuloma trichophyticum|deep seated dermatophytosis|Majocchi's granuloma UMLS:C1279621|SCTID:214600002|DOID:13368 owl:Class MONDO:0024557 biolink:NamedThing ataxia-telangiectasia-like disorder 1 Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene. tmpte7i6ely_mondo_relaxed.owl ataxia-telangiectasia-like disorder caused by mutation in MRE11|ATLD1|MRE11 ataxia-telangiectasia-like disorder|MRE11 ataxia - telangiectasia-like disorder|Atld|ataxia - telangiectasia-like disorder caused by mutation in MRE11|ataxia-telangiectasia-like disorder 1 Orphanet:251347|NCIT:C132224|UMLS:C1858391|OMIM:604391 owl:Class HGNC:7230 biolink:NamedThing MRE11 tmpte7i6ely_mondo_relaxed.owl owl:Class N4e50efd9a194447094bde2c3c650224a biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:714 biolink:NamedThing ARSB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000284 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type tmpte7i6ely_mondo_relaxed.owl nephropathia epidemica|nephropathis epidemica DOID:0050201|UMLS:C0242993 owl:Class MONDO:0005354 biolink:NamedThing chronic hepatitis C virus infection Chronic form of hepatitis C infection. tmpte7i6ely_mondo_relaxed.owl hepatitis C infection, chronic|chronic Hepatitis C|hepatitis C, chronic ICD9:070.44|MESH:D019698|EFO:0004220|SCTID:128302006 owl:Class HGNC:17348 biolink:NamedThing PRPF3 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0016399 biolink:NamedThing lymph node of upper limb tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013216 biolink:NamedThing Diamond-Blackfan anemia 9 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene. tmpte7i6ely_mondo_relaxed.owl Diamond-Blackfan anemia 9|DBA9|RPS10 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPS10|Diamond-Blackfan Anemia type 9 MESH:C567650|Orphanet:124|OMIM:613308|UMLS:C2750081 owl:Class UBERON:0010052 biolink:NamedThing mucosa of dorsum of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014519 biolink:NamedThing chronic mountain sickness, susceptibility to tmpte7i6ely_mondo_relaxed.owl chronic mountain sickness, susceptibility to|Monge disease UMLS:C0274294|OMIM:616182 owl:Class MONDO:0011943 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl SLEN2|systemic lupus erythematosus with nephritis, susceptibility to, 2 OMIM:607966 owl:Class MONDO:0006685 biolink:NamedThing brain hypoxia - ischemia A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions. tmpte7i6ely_mondo_relaxed.owl MESH:D020925|EFO:1000846 owl:Class MONDO:0010571 biolink:NamedThing otopalatodigital syndrome type 2 Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. tmpte7i6ely_mondo_relaxed.owl faciopalatoosseous syndrome|otopalatodigital syndrome, type II|OPD 2 syndrome|FPO|oto-palato-digital syndrome type 2|Andre syndrome|cranioorodigital syndrome|OPD syndrome 2|otopalatodigital syndrome, type 2|cranio-oro-digital syndrome|OPD2|OPD II syndrome DOID:0111784|SCTID:42432003|Orphanet:669|ICD10:Q87.0|OMIM:304120|GARD:0005802|MESH:C538089|ICD9:759.89|Orphanet:90652 owl:Class HGNC:6365 biolink:NamedThing KLK4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007110 biolink:NamedThing Diamond-Blackfan anemia 1 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene. tmpte7i6ely_mondo_relaxed.owl DBA|Diamond-Blackfan anemia caused by mutation in RPS19|Diamond-Blackfan anemia 1|Aase-Smith syndrome 2|Aase syndrome|Diamond-Blackfan Anemia type 1|RPS19 Diamond-Blackfan anemia|anemia, congenital erythroid hypoplastic|Red cell aplasia, Pure, hereditary|DBA1|anemia, congenital hypoplastic, of Blackfan and Diamond|Blackfan-Diamond syndrome|aregenerative Anemia, chronic congenital|erythrogenesis imperfecta Orphanet:124|OMIM:105650|UMLS:C2676137 owl:Class GO:0005775 biolink:NamedThing vacuolar lumen The volume enclosed within the vacuolar membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:00001184 biolink:NamedThing algal food product This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms. tmpte7i6ely_mondo_relaxed.owl SUBSET_SIREN:F10419 http://langual.org subset_siren owl:Class MONDO:0021001 biolink:NamedThing hemochromatosis type 1 Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease tmpte7i6ely_mondo_relaxed.owl hemochromatosis, type 1|classic hemochromatosis|HFE1|HFE-associated hereditary hemochromatosis|hemochromatosis type 1|C282Y/C282Y hemochromatosis|symptomatic form of classic hemochromatosis|HFE-related hemochromatosis|symptomatic form of hemochromatosis type 1|symptomatic form of HFE-related hereditary hemochromatosis ICD10:E83.1|DOID:0111029|UMLS:CN242134|ICD9:275.01|SCTID:35400008|OMIM:235200|EFO:0006513|NCIT:C84764|Orphanet:139498|GARD:0010417 owl:Class HGNC:757 biolink:NamedThing ASPH tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CARO_0010000 biolink:NamedThing multicellular anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0008324 biolink:NamedThing erectile tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017291 biolink:NamedThing reversible cerebral vasoconstriction syndrome Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. tmpte7i6ely_mondo_relaxed.owl RCVS Orphanet:284388|UMLS:C3544214|ICD9:437.8|GARD:0012768|SCTID:700467001|ICD10:I67.8 https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome owl:Class UBERON:0010075 biolink:NamedThing sacral neural crest tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p35.2 biolink:NamedThing 1p35.2 (Human) tmpte7i6ely_mondo_relaxed.owl 32300000 29900000 hg38 owl:Class MONDO:0009165 biolink:NamedThing Aicardi-Goutieres syndrome 1 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene. tmpte7i6ely_mondo_relaxed.owl Aicardi-Goutieres syndrome 1|TREX1 Aicardi-Goutieres syndrome|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutieres syndrome 1, autosomal dominant|Cree encephalitis|Ags|Pseudotoxoplasmosis syndrome|Aicardi-Goutieres syndrome type 1|Aicardi-Goutieres syndrome caused by mutation in TREX1|AGS1 Orphanet:51|UMLS:C0796126|GARD:0010893|OMIM:225750 owl:Class HP:0030895 biolink:NamedThing Abnormal gastrointestinal motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl Abnormal GI motility human_phenotype owl:Class HGNC:3098 biolink:NamedThing TOR1A tmpte7i6ely_mondo_relaxed.owl owl:Class CL:1001430 biolink:NamedThing urethra urothelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001124 cell owl:Class MONDO:0014645 biolink:NamedThing BENTA disease BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside|digoxin anion owl:Class OBO:CHR_9606-chr16q24 biolink:NamedThing 16q24 (Human) tmpte7i6ely_mondo_relaxed.owl 90338345 84100000 hg38 owl:Class MONDO:0016550 biolink:NamedThing congenital primary megaureter, obstructed form tmpte7i6ely_mondo_relaxed.owl ICD10:Q62.2|Orphanet:238646 owl:Class HGNC:572 biolink:NamedThing AP4B1 tmpte7i6ely_mondo_relaxed.owl owl:Class Nc7f585aa97de4b7693d6c3c0d31b918c biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006752 biolink:NamedThing Erysipelothrix rhusiopathiae infectious disease A disease caused by infection with Erysipelothrix rhusiopathiae. tmpte7i6ely_mondo_relaxed.owl Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder MESH:D004887|EFO:1000928 owl:Class HGNC:14579 biolink:NamedThing VPS45 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002822 biolink:NamedThing trabecular adenocarcinoma A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. tmpte7i6ely_mondo_relaxed.owl trabecular adenocarcinoma (morphologic abnormality)|trabecular adenocarcinoma|trabecula adenocarcinoma|Merkel cell carcinoma|trabecular carcinoma ICDO:8332/3|ICDO:8190/3|DOID:3965|UMLS:C0302182|NCIT:C4068 owl:Class MONDO:0018334 biolink:NamedThing chronic hiccup Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. tmpte7i6ely_mondo_relaxed.owl intractable hiccups|Hiccups, intractable|persistent hiccups|chronic hiccups|intractable singultus SCTID:716771000|UMLS:CN205022|UMLS:C0744898|GARD:0006657|Orphanet:396|HP:0100247 https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups owl:Class HsapDv:0000118 biolink:NamedThing 24-year-old human stage Young adult stage that refers to an adult who is over 24 and under 25. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014363 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 101 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. tmpte7i6ely_mondo_relaxed.owl DFNB101|deafness, autosomal recessive 101|GRXCR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 101|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2|autosomal recessive nonsyndromic deafness type 101|autosomal recessive deafness 101|autosomal recessive nonsyndromic deafness 101 ICD10:H90.3|UMLS:C3892049|DOID:0110462|OMIM:615837|Orphanet:90636 owl:Class UBERON:0008367 biolink:NamedThing breast epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0000023 biolink:NamedThing Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552 Inguinal hernia appears as a bulge in the groin. human_phenotype owl:Class UBERON:2001431 biolink:NamedThing primitive olfactory epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0010152 biolink:NamedThing skin mucus tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011946 biolink:NamedThing diaphanospondylodysostosis Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. tmpte7i6ely_mondo_relaxed.owl diaphanospondylodysostosis|vertebral ossification, defect in, with nephrogenic rests ICD10:Q78.8|UMLS:C1842691|MESH:C564305|SCTID:721094006|Orphanet:66637|OMIM:608022 owl:Class HGNC:24154 biolink:NamedThing BMPER tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004513 biolink:NamedThing adult pleomorphic rhabdomyosarcoma An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities. tmpte7i6ely_mondo_relaxed.owl pleomorphic rhabdomyosarcoma of adults|adult pleomorphic rhabdomyosarcoma NCIT:C27369|ICDO:8901/3|UMLS:C1332211|DOID:8251 owl:Class MONDO:0002624 biolink:NamedThing bone leiomyosarcoma A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl bone tissue leiomyosarcoma|leiomyosarcoma of bone|bone leiomyosarcoma|leiomyosarcoma of bone tissue NCIT:C7154|UMLS:C1332579|DOID:3367 owl:Class MONDO:0003023 biolink:NamedThing aorta angiosarcoma A malignant vascular neoplasm arising from the aorta. tmpte7i6ely_mondo_relaxed.owl hemangiosarcoma of the aorta|aorta angiosarcoma (disease)|angiosarcoma of the aorta|angiosarcoma (disease) of aorta|hemangiosarcoma of aorta|aortic angiosarcoma|aortic hemangiosarcoma|angiosarcoma of aorta NCIT:C5376|UMLS:C1332312|DOID:4510 owl:Class MONDO:0010435 biolink:NamedThing nystagmus 6, congenital, X-linked tmpte7i6ely_mondo_relaxed.owl NYSTAGMUS 6, congenital, X-linked|NYS6|nystagmus 6, congenital, X-linked UMLS:C3151752|OMIM:300814 owl:Class MONDO:0008747 biolink:NamedThing oculocutaneous albinism type 3 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. tmpte7i6ely_mondo_relaxed.owl oculocutaneous albinism, type 3|rufous OCA|rufous oculocutaneous albinism|oculocutaneous albinism caused by mutation in TYRP1|albinism, oculocutaneous, type III|ROCA|oculocutaneous albinism type 3|albinism, oculocutaneous, type 3|OCA3|Red oculocutaneous albinism|Xanthism|xanthous oculocutaneous albinism|TYRP1 oculocutaneous albinism|oculocutaneous albinism type III|albinism 3 OMIM:203290|SCTID:63450009|Orphanet:79433|DOID:0070097|ICD9:270.2|ICD10:E70.3|GARD:0004039|GARD:0009641|MESH:C537731 owl:Class HGNC:12450 biolink:NamedThing TYRP1 tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr6q11-q14 biolink:NamedThing 6q11-q14 (Human) tmpte7i6ely_mondo_relaxed.owl hg38 owl:Class MONDO:0013418 biolink:NamedThing aortic aneurysm, familial thoracic 7 tmpte7i6ely_mondo_relaxed.owl aortic aneurysm, familial thoracic type 7|AAT7|aortic dissection, familial, with or without aortic aneurysm|aortic aneurysm, familial thoracic 7 OMIM:613780|Orphanet:91387|UMLS:C3151077 owl:Class HGNC:29502 biolink:NamedThing PJVK tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:29186 biolink:NamedThing ANKRD26 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006731 biolink:NamedThing drug-induced akathisia An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. tmpte7i6ely_mondo_relaxed.owl MESH:D017109|ICD9:333.99|MedDRA:10001540|ICD10:G25.71|NCIT:C78163|EFO:1000903|SCTID:230333002 owl:Class MONDO:0013393 biolink:NamedThing distal 7q11.23 microdeletion syndrome Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). tmpte7i6ely_mondo_relaxed.owl distal chromosome 7Q11.23 deletion syndrome|distal del(7)(q11.23)|chromosome 7q11.23 deletion syndrome, distal, 1.2-MB|distal monosomy 7q11.23 OMIM:613729|Orphanet:254351|ICD10:Q93.5|UMLS:C3150999 owl:Class GO:0004634 biolink:NamedThing phosphopyruvate hydratase activity Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. tmpte7i6ely_mondo_relaxed.owl nervous-system specific enolase|2-phospho-D-glycerate hydro-lyase activity|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)|14-3-2-protein|phosphoenolpyruvate hydratase activity|2-phosphoglycerate dehydratase activity|2-phosphoglycerate enolase activity|2-phosphoglyceric dehydratase activity|gamma-enolase activity|2-phospho-D-glycerate-hydrolase activity|enolase activity owl:Class UBERON:0010693 biolink:NamedThing pedal digit 1 epithelium tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0061844 biolink:NamedThing antimicrobial humoral immune response mediated by antimicrobial peptide An immune response against microbes mediated by anti-microbial peptides in body fluid. tmpte7i6ely_mondo_relaxed.owl peptide-mediated antimicrobial humoral response|antimicrobial peptide-mediated antimicrobial humoral response owl:Class GO:0097503 biolink:NamedThing sialylation The covalent attachment of sialic acid to a substrate molecule. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20194 biolink:NamedThing POLR1C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002641 biolink:NamedThing subclavian artery aneurysm A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm. tmpte7i6ely_mondo_relaxed.owl DOID:342|UMLS:C0155746|SCTID:40136003|ICD9:442.82 Editor note: consider moving to HPO owl:Class HP:0003577 biolink:NamedThing Congenital onset A phenotypic abnormality that is present at birth. tmpte7i6ely_mondo_relaxed.owl Onset in utero|Onset at birth|Prenatal onset|Intrauterine onset|Symptoms present at birth UMLS:C1836142|UMLS:C2752013 Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). HP:0003624|HP:0003666|HP:0003595|HP:0003660|HP:0003601 human_phenotype owl:Class MONDO:0009398 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 1 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene. tmpte7i6ely_mondo_relaxed.owl PIGV hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 1|hyperphosphatasia with mental retardation syndrome type 1|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome type 1|glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV|HPMRS1|hyperphosphatasia with mental retardation syndrome 1 UMLS:CN030519|OMIM:239300|UMLS:C1855923|Orphanet:247262 owl:Class MONDO:0016369 biolink:NamedThing Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. tmpte7i6ely_mondo_relaxed.owl poikiloderma of Rothmund-Thomson type 2|RTS2 UMLS:CN201234|ICD10:Q82.8|OMIM:268400|Orphanet:221016 owl:Class MONDO:0007656 biolink:NamedThing Gerstmann-Straussler-Scheinker syndrome A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. tmpte7i6ely_mondo_relaxed.owl subacute spongiform encephalopathy, Gerstmann-Straussler type|encephalopathy subacute spongiform Gerstmann-Straussler type|amyloidosis cerebral with spongiform encephalopathy|prion dementia|GSD|cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|cerebral amyloid angiopathy, Prnp-related|Gerstmann-Straussler disease|encephalopathy, Subacute spongiform, Gerstmann-Straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|Gerstmann-Straussler-Scheinker disease|Gerstmann Straussler Scheinker syndrome ICD10:A81.82|GARD:0007690|ICD10:A81.8|MedDRA:10072075|UMLS:C0017495|NCIT:C84727|DOID:4249|OMIM:137440|MESH:C535800|ICD9:046.71|Orphanet:356|SCTID:67155006 Editor note: MESH considers as two diseases owl:Class GO:0007159 biolink:NamedThing leukocyte cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. tmpte7i6ely_mondo_relaxed.owl leukocyte cell adhesion|leukocyte adhesion owl:Class HGNC:1389 biolink:NamedThing CACNA1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013955 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene. tmpte7i6ely_mondo_relaxed.owl IMD30|immunodeficiency 30|IL12RB1 deficiency|immunodeficiency type 30|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|IL-12Râ1 deficiency|MSMD due to complete IL12RB1 deficiency|MSMD due to complete interleukin 12 receptor beta 1 deficiency|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Orphanet:319552|UMLS:C4013949|GARD:0010984|OMIM:614891|ICD10:D84.8 owl:Class MONDO:0022846 biolink:NamedThing congenital nonhemolytic jaundice tmpte7i6ely_mondo_relaxed.owl GARD:0006177 https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice owl:Class HGNC:20342 biolink:NamedThing ZDHHC15 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000678 biolink:NamedThing simultanagnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. tmpte7i6ely_mondo_relaxed.owl GARD:0011943|DOID:0060148 https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia owl:Class HGNC:14897 biolink:NamedThing ITPKC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018148 biolink:NamedThing vasoproliferative tumor of retina Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported. tmpte7i6ely_mondo_relaxed.owl vasoproliferative tumor of the retina|VPTR|retinal vasoproliferative tumor|vasoproliferative tumor of ocular fundus|vasoproliferative tumor of the ocular fundus UMLS:CN204546|ICD10:D31.2|Orphanet:353356 owl:Class HP:0100247 biolink:NamedThing Recurrent singultus A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. tmpte7i6ely_mondo_relaxed.owl Recurrent hiccup|Recurrent synchronous diaphragmatic flutter|Hiccup|Hiccups|Recurrent hiccough UMLS:C0019521|SNOMEDCT_US:65958008|MSH:D006606|UMLS:C0744897 A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. doelkens 2010-07-08T05:28:00Z human_phenotype owl:Class MONDO:0014323 biolink:NamedThing retinitis pigmentosa 68 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 68|SLC7A14 retinitis pigmentosa|retinitis pigmentosa 68|retinitis pigmentosa caused by mutation in SLC7A14|RP68 OMIM:615725|DOID:0110374|UMLS:C3810380|ICD10:H35.5 owl:Class MONDO:0012835 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 11 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. tmpte7i6ely_mondo_relaxed.owl susceptibility to systemic lupus erythematosus 11|systemic lupus erythematosus, susceptibility to, type 11|systemic lupus erythematosus, susceptibility to, 11|systemic lupus erythematosus (disease) caused by mutation in STAT4|STAT4 systemic lupus erythematosus (disease)|SLEB11 OMIM:612253 owl:Class HGNC:1839 biolink:NamedThing ADA2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:12765 biolink:NamedThing FOXN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018014 biolink:NamedThing transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. tmpte7i6ely_mondo_relaxed.owl transient neonatal glutaric acidemia type 2|transient neonatal glutaric aciduria type 2|transient neonatal MADD|transient neonatal MAD deficiency SCTID:723552005|ICD10:E71.3|UMLS:CN204228|Orphanet:329942 owl:Class MONDO:0006654 biolink:NamedThing anthracosis A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. tmpte7i6ely_mondo_relaxed.owl coal miner's pneumoconiosis|black lung|coal workers' pneumoconiosis|coal dust pneumoconiosis|melanoedema|coal workers' lung|pneumoconiosis from coal dust SCTID:29422001|UMLS:C0003165|NCIT:C34390|ICD9:500|MedDRA:10073051|ICD10:J60|DOID:10327|EFO:1000814|MESH:D055008 owl:Class MONDO:0012904 biolink:NamedThing epilepsy, progressive myoclonic, 1B Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene. tmpte7i6ely_mondo_relaxed.owl epilepsy, progressive myoclonic, 1B|progressive myoclonic epilepsy caused by mutation in PRICKLE1|PRICKLE1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 1B|EPM1B MESH:C580388|ICD9:345.10|SCTID:702326000|OMIM:612437|DOID:0111448|UMLS:C2676254|Orphanet:308 owl:Class HGNC:17042 biolink:NamedThing PUF60 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0042632 biolink:NamedThing cholesterol homeostasis Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. tmpte7i6ely_mondo_relaxed.owl regulation of cholesterol homeostasis|positive regulation of cholesterol homeostasis owl:Class MONDO:0014860 biolink:NamedThing polycystic liver disease 2 Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene. tmpte7i6ely_mondo_relaxed.owl polycystic liver disease 2; PCLD2|polycystic liver disease 2 with or without kidney cysts|polycystic liver disease 2|PCLD2|polycystic liver disease type 2 OMIM:617004|UMLS:C4310769 owl:Class MONDO:0014629 biolink:NamedThing autoimmune interstitial lung disease-arthritis syndrome A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. tmpte7i6ely_mondo_relaxed.owl copa defect|copa syndrome|autoimmune interstitial lung, joint, and kidney disease|AILJK OMIM:616414|Orphanet:444092|ICD10:J84.8|UMLS:C4225334 Editor note: check relationship to RA-ILD owl:Class HGNC:2230 biolink:NamedThing COPA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2213 biolink:NamedThing COL6A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016214 biolink:NamedThing pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. tmpte7i6ely_mondo_relaxed.owl Orphanet:210136|UMLS:CN200975 owl:Class MONDO:0003741 biolink:NamedThing juvenile type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. tmpte7i6ely_mondo_relaxed.owl juvenile type granulosa cell neoplasm|juvenile granulosa cell tumor (morphologic abnormality)|juvenile type granulosa cell tumor|juvenile granulosa cell tumour|juvenile granulosa cell tumor UMLS:C0334403|UMLS:C1515285|NCIT:C39947|DOID:6032 owl:Class MONDO:0013312 biolink:NamedThing retinitis pigmentosa 55 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 55|RP55|retinitis pigmentosa caused by mutation in ARL6|retinitis pigmentosa type 55|ARL6 retinitis pigmentosa ICD10:H35.5|OMIM:613575|UMLS:C3150808|DOID:0110370 owl:Class MONDO:0018007 biolink:NamedThing mosaic genome-wide paternal uniparental disomy tmpte7i6ely_mondo_relaxed.owl androgenetic/biparental mosaicism|Mosaic genome-wide paternal UPD|genome-wide paternal uniparental disomy mosaicism Orphanet:329813|UMLS:CN230278 owl:Class HGNC:29853 biolink:NamedThing HECW2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11763 biolink:NamedThing TFRC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022178 biolink:NamedThing chromosome 13q-mosaicism tmpte7i6ely_mondo_relaxed.owl Mosiacism of chromosome 13q MESH:C535486|UMLS:CN037259 owl:Class MONDO:0008953 biolink:NamedThing peroxisome biogenesis disorder 1A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group E|PBD1A|peroxisome biogenesis disorder, complementation group 1|peroxisome biogenesis disorder 1A (Zellweger)|Zs|Cerebrohepatorenal syndrome UMLS:C0043459|OMIM:214100|Orphanet:912|DOID:0080476 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:15626 biolink:NamedThing FCGR2C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013383 biolink:NamedThing Hirschsprung disease, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 3|Hirschsprung disease, susceptibility to, type 3|Hirschsprung disease type 3|Hirschsprung disease caused by mutation in GDNF|HSCR3|Hirschsprung disease modifier|susceptibility to Hirschsprung disease 3|GDNF Hirschsprung disease GARD:0002699|UMLS:C2931739|OMIM:600156|MESH:C538121|Orphanet:388|OMIM:613711 https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3 owl:Class MONDO:0024306 biolink:NamedThing acquired lactic acidosis An instance of lactic acidosis that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl lactic acidosis|acquired lactic acidosis EFO:1000036|ICD10:E87.2|DOID:3650|UMLS_CUI:C0001125 owl:Class CL:0002087 biolink:NamedThing nongranular leukocyte A leukocyte that lacks granules. tmpte7i6ely_mondo_relaxed.owl agranular leukocyte FMA:62855 tmeehan 2010-07-22T11:30:33Z cell owl:Class HGNC:16966 biolink:NamedThing ZMYND11 tmpte7i6ely_mondo_relaxed.owl owl:Class Ndcafbd4d39ef4b03b74db374c9610434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014243 biolink:NamedThing Schaaf-Yang syndrome tmpte7i6ely_mondo_relaxed.owl SHFYNG|arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies|Schaaf-Yang syndrome|MAGEL2-related PWLS|Prader-Willi-like syndrome|MAGEL2-related Prader-Willi-like syndrome|PWS due to a point mutation|Prader-Willi syndrome due to point mutation|Chitayat-Hall syndrome Orphanet:398069|Orphanet:739|UMLS:C1859724|GARD:0010087|MESH:C535385|OMIM:208080|ICD10:Q87.1|OMIM:615547|GARD:0013316|UMLS:C3809877 https://github.com/monarch-initiative/mondo/issues/3338 owl:Class UBERON:0015418 biolink:NamedThing urethra mesenchymal layer tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0013750 biolink:NamedThing metaphysis of tibia tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5498 biolink:NamedThing Cladosporium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:1685474 ncbi_taxonomy owl:Class HGNC:7045 biolink:NamedThing MGAT2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6256 biolink:NamedThing KCNJ10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014810 biolink:NamedThing pancytopenia due to IKZF1 mutations Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency, common variable, type 13|CVID13|syndrome with combined immunodeficiency caused by mutation in IKZF1|combined immunodeficiency due to IKAROS deficiency|immunodeficiency, common variable, 13|Cid due to IKAROS deficiency|IKZF1 syndrome with combined immunodeficiency OMIM:616873|Orphanet:317473|UMLS:C4225173|ICD10:D81.8 owl:Class HGNC:8977 biolink:NamedThing PIK3CD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021824 biolink:NamedThing adult progressive spinal muscular atrophy, Aran Duchenne type A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others. tmpte7i6ely_mondo_relaxed.owl Aran Duchenne spinal muscular atrophy|adult progressive spinal muscular atrophy Aran Duchenne type|adult SMA Aran Duchenne type GARD:0009132 Editor note: consider merging with parent https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type owl:Class NCBITaxon:774 biolink:NamedThing Bartonella bacilliformis tmpte7i6ely_mondo_relaxed.owl Bartonia bacilliformis GC_ID:11 ncbi_taxonomy owl:Class CHEBI:43176 biolink:NamedThing hydroxy group tmpte7i6ely_mondo_relaxed.owl hydroxyl group|hydroxy|hydroxyl|HYDROXY GROUP|-OH|hydroxy group owl:Class CL:0002615 biolink:NamedThing adipocyte of omentum tissue A fat cell that is part of omentum tissue. tmpte7i6ely_mondo_relaxed.owl omental adipocyte|omental fat cell tmeehan 2011-03-14T10:17:00Z cell owl:Class GO:0047598 biolink:NamedThing 7-dehydrocholesterol reductase activity Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. tmpte7i6ely_mondo_relaxed.owl sterol delta7-reductase activity|7-DHC reductase activity|sterol Delta(7)-reductase activity|cholesterol:NADP+ delta7-oxidoreductase activity owl:Class HGNC:4795 biolink:NamedThing H6PD tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17288 biolink:NamedThing APOA5 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005589 biolink:NamedThing collagen type VI trimer A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013290 biolink:NamedThing agammaglobulinemia 5, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene. tmpte7i6ely_mondo_relaxed.owl AGM5|agammaglobulinemia, autosomal dominant, due to Lrrc8A defect|autosomal agammaglobulinemia caused by mutation in LRRC8A|agammaglobulinemia 5, autosomal dominant|LRRC8A autosomal agammaglobulinemia OMIM:613506|UMLS:C3150753|DOID:0080588|Orphanet:33110|Orphanet:229717 owl:Class MONDO:0015005 biolink:NamedThing epilepsy, early-onset, vitamin B6-dependent tmpte7i6ely_mondo_relaxed.owl epilepsy, early-onset, vitamin B6-dependent|EPVB6D|epilepsy, early-onset, vitamin B6-dependent; EPVB6D UMLS:C4310632|OMIM:617290 owl:Class UBERON:0007174 biolink:NamedThing medial border of scapula tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11764 biolink:NamedThing TG tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:19693 biolink:NamedThing COQ4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0097006 biolink:NamedThing regulation of plasma lipoprotein particle levels Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. tmpte7i6ely_mondo_relaxed.owl plasma lipoprotein particle homeostasis owl:Class MONDO:0005556 biolink:NamedThing lupus nephritis Glomerulonephritis in the context of systemic lupus erythematosus. tmpte7i6ely_mondo_relaxed.owl glomerulonephritis, lupus|SLE nephritis|lupus nephritis|lupus Nephritides|lupus glomerulonephritis|nephritis, lupus|lupus Glomerulonephritides|Nephritides, lupus|Glomerulonephritides, lupus SCTID:68815009|DOID:0080162|NCIT:C34789|MESH:D008181|EFO:0005761|GARD:0010747|UMLS:C0024143 https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis owl:Class HGNC:5351 biolink:NamedThing ICOS tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0018115 biolink:NamedThing left renal pelvis tmpte7i6ely_mondo_relaxed.owl owl:Class OBO:MF_0000076 biolink:NamedThing intentional modality A structural capacity that shapes how an object of intentionality is represented for the subject. tmpte7i6ely_mondo_relaxed.owl intentional mode|intentional structure An example of an intentional modality is the capacity to represent objects of intentionality as unfolding in time or being time contingent. owl:Class HP:0007354 biolink:NamedThing Amyotrophic lateral sclerosis tmpte7i6ely_mondo_relaxed.owl Lou Gehrig's disease MSH:D000690|UMLS:C0002736|SNOMEDCT_US:86044005 human_phenotype owl:Class MONDO:0009558 biolink:NamedThing Treacher Collins syndrome 3 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene. tmpte7i6ely_mondo_relaxed.owl Treacher Collins syndrome type 3|POLR1C Treacher-Collins syndrome|Treacher-Collins syndrome caused by mutation in POLR1C|Treacher Collins syndrome 3|TREACHER COLLINS syndrome 3|mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|TCS3 MESH:C535707|GARD:0009125|OMIM:248390|Orphanet:861 https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3 owl:Class GO:0003411 biolink:NamedThing cell motility involved in camera-type eye morphogenesis Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6664 biolink:NamedThing LOX tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7553 biolink:NamedThing MYC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014527 biolink:NamedThing progeroid features-hepatocellular carcinoma predisposition syndrome tmpte7i6ely_mondo_relaxed.owl RUIJS-Aalfs syndrome|RJALS|Ruijs-Aalfs syndrome Orphanet:435953|UMLS:C4015461|OMIM:616200|DOID:0111264 owl:Class HGNC:25356 biolink:NamedThing SPRTN tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:0000001 biolink:NamedThing exposure to radiation A exposure event involving the interaction of an exposure receptor to radiation. tmpte7i6ely_mondo_relaxed.owl radiation exposure owl:Class MONDO:0012404 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 8|SLEB8 OMIM:610066 owl:Class MONDO:0014974 biolink:NamedThing sudden cardiac failure, alcohol-induced tmpte7i6ely_mondo_relaxed.owl sudden cardiac failure, alcohol-induced; SCFAI|sudden Cardiac failure, alcohol-induced|SCFAI OMIM:617223|UMLS:C4310663 owl:Class Nf58063cada33403f9573df31235511a1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:24338 biolink:NamedThing C1GALT1C1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2417 biolink:NamedThing CRYGS tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007032 biolink:NamedThing prune belly syndrome Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. tmpte7i6ely_mondo_relaxed.owl Obrisnksy syndrome|PBS|triad syndrome|syndrome of agenesis of abdominal muscles|Obrinsky syndrome|abdominal muscle deficiency syndrome|prune belly syndrome|eagle-Barrett syndrome|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism|eagle-Barret syndrome UMLS:C0033770|GARD:0007479|UMLS:C0265363|MedDRA:10051025|NCIT:C85033|ICD10:Q79.4|Orphanet:2970|ICD9:756.71|DOID:0060889|SCTID:5187006|MESH:D011535|MESH:C536477|OMIM:100100 owl:Class HGNC:13486 biolink:NamedThing USP27X tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7060 biolink:NamedThing MGP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003206 biolink:NamedThing acquired hemangioma A hemangioma that is not present at birth but develops later in life. tmpte7i6ely_mondo_relaxed.owl acquired hemangioma UMLS:C0856897|DOID:492|NCIT:C27018 owl:Class UBERON:0005966 biolink:NamedThing outflow part of left atrium tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018766 biolink:NamedThing chronic enteropathy associated with SLCO2A1 gene tmpte7i6ely_mondo_relaxed.owl CEAS Orphanet:468641 owl:Class NCBITaxon:6035 biolink:NamedThing Encephalitozoon cuniculi tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012615 biolink:NamedThing intellectual disability, autosomal recessive 7 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive type 7|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3|mental retardation, autosomal recessive 22|MRT7|intellectual disability, autosomal recessive type 7|TUSC3 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 22|mental retardation, autosomal recessive 7|intellectual disability, autosomal recessive 7 Orphanet:88616|OMIM:611093|MESH:C567016|UMLS:C1970197 owl:Class MONDO:0009669 biolink:NamedThing spinal muscular atrophy, type 1 A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpte7i6ely_mondo_relaxed.owl survival motor neuron spinal muscular atrophy|SMA 1|infantile spinal muscular atrophy|SMA type 1|spinal muscular atrophy, type I|proximal spinal muscular atrophy type 1|infantile muscular atrophy|SMA-I|SMA, infantile acute form|spinal muscular atrophies of childhood|SMA type I|hereditary motor neuropathy proximal type I|Werdnig-Hoffman disease|HMN (hereditary motor neuropathy) proximal type I|SMA1|severe infantile spinal muscular atrophy|Werdnig Hoffmann disease|muscular atrophy, infantile|spinal muscular atrophy 1|proximal spinal muscular atrophy, type 1|progressive muscular atrophy of infancy|Werdnig-Hoffmann disease Orphanet:83330|ICD9:335.11|DOID:0060160|DOID:13137|UMLS:C0700595|OMIM:253300|SCTID:54280009|NCIT:C98670|NCIT:C118847|SCTID:128212001|UMLS:C0152109|Orphanet:70|ICD10:G12.0|ICD9:335.0|SCTID:64383006|GARD:0007883 owl:Class HGNC:7683 biolink:NamedThing NDUFA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033643 biolink:NamedThing inflammatory bowel disease 30 tmpte7i6ely_mondo_relaxed.owl IBD30 OMIM:619079 owl:Class CL:1000414 biolink:NamedThing endothelial cell of venule An endothelial cell that is part of the venule. tmpte7i6ely_mondo_relaxed.owl FMA:67762 cell owl:Class MONDO:0013963 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 93 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 93|autosomal recessive deafness 93|deafness, autosomal recessive 93|autosomal recessive nonsyndromic deafness 93|deafness, autosomal recessive type 93|CABP2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|DFNB93 ICD10:H90.3|OMIM:614899|DOID:0110537 owl:Class UBERON:0000366 biolink:NamedThing flexor muscle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007411 biolink:NamedThing cutis laxa, autosomal dominant 1 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene. tmpte7i6ely_mondo_relaxed.owl ELN autosomal dominant cutis laxa|autosomal dominant cutis laxa caused by mutation in ELN|autosomal dominant cutis laxa 1|cutis laxa, autosomal dominant 1|ADCL1|cutis laxa, autosomal dominant type 1 Orphanet:90348|UMLS:C3276539|DOID:0070130|OMIM:123700|ICD10:Q82.8 owl:Class HGNC:318 biolink:NamedThing AGA tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25705 biolink:NamedThing KCTD17 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2560602 biolink:NamedThing Mumps orthorubulavirus tmpte7i6ely_mondo_relaxed.owl Mumps rubulavirus|Mumps virus GC_ID:1 NCBITaxon:11161|NCBITaxon:1979165 ncbi_taxonomy owl:Class HGNC:2498 biolink:NamedThing CTDP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003086 biolink:NamedThing thymic mucoepidermoid carcinoma A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports. tmpte7i6ely_mondo_relaxed.owl thymus mucoepidermoid carcinoma|mucoepidermoid carcinoma of Thymus|Thymus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Thymus|thymic mucoepidermoid carcinoma DOID:4678|NCIT:C6457|UMLS:C1334814 owl:Class GO:0043473 biolink:NamedThing pigmentation The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:470 biolink:NamedThing AMPD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005399 biolink:NamedThing venous thromboembolism Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. tmpte7i6ely_mondo_relaxed.owl venous thromboembolism UMLS:C1861172|EFO:0004286|MESH:D054556|NCIT:C99537 owl:Class MONDO:0014077 biolink:NamedThing cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. tmpte7i6ely_mondo_relaxed.owl lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 5|LIS5|cobblestone lissencephaly without muscular or ocular involvement|lissencephaly 5|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement Orphanet:352682|OMIM:615191|ICD10:Q04.3|UMLS:C3554657 owl:Class HGNC:23147 biolink:NamedThing UNC13D tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0007371 biolink:NamedThing superior surface of tongue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014465 biolink:NamedThing primary ciliary dyskinesia 30 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene. tmpte7i6ely_mondo_relaxed.owl CCDC151 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in CCDC151|primary ciliary dyskinesia 30 without situs inversus|primary ciliary dyskinesia type 30|ciliary dyskinesia, primary, type 30|CILD30|ciliary dyskinesia, primary, 30, with or without situs inversus|ciliary dyskinesia, primary, 30 DOID:0110624|Orphanet:244|UMLS:C4015016|ICD10:Q34.8|OMIM:616037 owl:Class MONDO:0014267 biolink:NamedThing severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. tmpte7i6ely_mondo_relaxed.owl immunodeficiency type 15|IMD15|immunodeficiency 15|SCID due to IKK2 deficiency ICD10:D81.2|OMIM:615592|UMLS:C3810043|Orphanet:397787 owl:Class HGNC:5960 biolink:NamedThing IKBKB tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003128 biolink:NamedThing Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. tmpte7i6ely_mondo_relaxed.owl Hyperlacticacidemia|Increased lactate in body|Lacticacidemia|Lactic acidemia|Lacticacidosis MSH:D000140|SNOMEDCT_US:91273001|UMLS:C0347959|UMLS:C0001125|SNOMEDCT_US:190882007 Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. HP:0003255|HP:0005960 human_phenotype owl:Class MONDO:0009843 biolink:NamedThing hypomyelinating leukodystrophy 3 Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene. tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 3|hypomyelinating leukodystrophy 3|leukodystrophy, hypomyelinating, type 3|leukodystrophy, hypomyelinating 3|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation|HLD3|AIMP1 leukodystrophy|perinatal Sudanophilic leukodystrophy|leukodystrophy caused by mutation in AIMP1|hypomyelinating leukodystrophy type 3 DOID:0060790|OMIM:260600|Orphanet:280293|MESH:C536319|ICD10:E75.2|GARD:0004266|Orphanet:280270|UMLS:C1850053 https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 owl:Class MONDO:0005865 biolink:NamedThing mushroom workers' lung An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. tmpte7i6ely_mondo_relaxed.owl bunashimeji worker's lung|pleurotus worker's lung|shiitaki worker's lung|mushroom workers lung|pholiota worker's lung|shimeji worker's lung ICD10:J67.5|DOID:2708|ICD9:495.5|UMLS:C0155889|EFO:0007385|SCTID:52333004 owl:Class HGNC:5099 biolink:NamedThing HOXA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017242 biolink:NamedThing cutaneous collagenous vasculopathy Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. tmpte7i6ely_mondo_relaxed.owl cutaneus colagenous vasculopathy|CCV UMLS:C4305323|GARD:0012428|Orphanet:280779|SCTID:718634003 owl:Class MONDO:0054550 biolink:NamedThing avascular necrosis of femoral head, primary, 1 tmpte7i6ely_mondo_relaxed.owl Femoral head, avascular necrosis of|femoral head, aseptic necrosis of|ischemic necrosis of femoral head|avascular necrosis of femoral head, primary, 1|ANFH1|osteonecrosis of femoral head OMIM:608805 owl:Class MONDO:0044321 biolink:NamedThing structural heart defects and renal anomalies syndrome tmpte7i6ely_mondo_relaxed.owl structural heart defects and renal anomalies syndrome|SHDRA OMIM:617478|UMLS:C4479549 owl:Class CHEBI:37175 biolink:NamedThing organic hydride tmpte7i6ely_mondo_relaxed.owl organic hydrides owl:Class MONDO:0001523 biolink:NamedThing luxation of globe tmpte7i6ely_mondo_relaxed.owl luxation of eye ICD10:H44.82|ICD9:360.81|UMLS:C0154806|DOID:1241|SCTID:20842008 owl:Class MONDO:0012005 biolink:NamedThing growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy tmpte7i6ely_mondo_relaxed.owl growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy|growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy OMIM:608278|MESH:C564264|UMLS:C1842321 owl:Class MONDO:0043982 biolink:NamedThing cubital tunnel syndrome Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) tmpte7i6ely_mondo_relaxed.owl cubital tunnel syndromes|syndrome, cubital tunnel|syndromes, cubital tunnel|ulnar nerve compression, cubital tunnel|tunnel syndromes, cubital|tunnel syndrome, cubital|cubital tunnel syndrome|ulnar nerve entrapment, elbow EFO:1001363|MESH:D020430|SCTID:56177003 owl:Class MONDO:0018030 biolink:NamedThing tetrasomy 9p Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). tmpte7i6ely_mondo_relaxed.owl chromosome 9p tetrasomy|Mosaic tetrasomy 9p|tetrasomy of short arm of chromosome 9|Isochromosome 9p|tetrasomy type 9p ICD10:Q99.8|SCTID:715530004|MESH:C538027|Orphanet:3310|UMLS:C0795832|GARD:0000042 https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p owl:Class NCIT:C38328 biolink:NamedThing Unfavorable Clinical Outcome tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002268 biolink:NamedThing dyspepsia An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. tmpte7i6ely_mondo_relaxed.owl dyspepsia, indigestion|indigestion ICD10:K30|NCIT:C26756|DOID:2321|ICD10:R10.13|MESH:D004415|EFO:0008533 owl:Class MONDO:0022740 biolink:NamedThing Christian Johnson angenieta syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001316 https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome owl:Class MONDO:0008683 biolink:NamedThing Wilms tumor 3 tmpte7i6ely_mondo_relaxed.owl Wilms tumor 3|WT3 MESH:C565991|OMIM:194090|Orphanet:654|UMLS:C1860265 owl:Class HGNC:6996 biolink:NamedThing MEF2C tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005881 biolink:NamedThing oligohydramnios A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. tmpte7i6ely_mondo_relaxed.owl oligohydramnios (disease)|oligohydramnios - delivered|delivered oligohydramnios|oligohydramnios|antepartum oligohydramnios oligohydramnios (disease) ICD10:O41.00|EFO:0007401|HP:0001562|ICD9:658.0|MESH:D016104|NCIT:C92839|SCTID:59566000|ICD10:O41.0|ICD9:658.00|DOID:12215 Consider obsoleting as represents a finding owl:Class MONDO:0041536 biolink:NamedThing Far-East scarlet-like fever A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. tmpte7i6ely_mondo_relaxed.owl Izumi fever|FESLF SCTID:47277009|UMLS:C0277513 owl:Class MONDO:0100435 biolink:NamedThing Schwartz-Jampel syndrome type 1 tmpte7i6ely_mondo_relaxed.owl SJA syndrome|Chondrodystrophic myotonia|Schwartz-Jampel syndrome 1|Schwartz-Jampel syndrome, type 1|SJS1|Schwartz-Jampel syndrome type 1 DOID:0090005|OMIM:255800 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007209 biolink:NamedThing Weismann-Netter syndrome Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. tmpte7i6ely_mondo_relaxed.owl WEISMANN-NETTER syndrome|Weismann Netter syndrome|Weismann-Netter syndrome|bowing of legs, anterior with dwarfism|Toxopachyosteose Diaphysaire Tibio-Peroniere|bowing of legs, anterior, with dwarfism|anterior bowing of legs with dwarfism|Weismann-Netter-Stuhl syndrome|WNS SCTID:715532007|UMLS:C1862172|ICD10:Q77.8|OMIM:112350|GARD:0005232|Orphanet:3344|MESH:C537082 owl:Class MONDO:0022823 biolink:NamedThing congenital contractures tmpte7i6ely_mondo_relaxed.owl GARD:0001477 https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures owl:Class MONDO:0014415 biolink:NamedThing kallikrein, decreased urinary activity of tmpte7i6ely_mondo_relaxed.owl kallikrein, decreased urinary activity of OMIM:615953|MESH:C563653 owl:Class MONDO:0034099 biolink:NamedThing SYNGAP1-related developmental and epileptic encephalopathy A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). tmpte7i6ely_mondo_relaxed.owl Orphanet:544254 owl:Class HGNC:23096 biolink:NamedThing SLC29A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010678 biolink:NamedThing muscular dystrophy, progressive Pectorodorsal tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, progressive Pectorodorsal|muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095|UMLS:C1839669|MESH:C564095 owl:Class MONDO:0019727 biolink:NamedThing mixed cryoglobulinemia type III Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. tmpte7i6ely_mondo_relaxed.owl MC type III Orphanet:93555|ICD10:D89.1|UMLS:CN206634 owl:Class MONDO:0100377 biolink:NamedThing acute myeloid leukemia, t(10;11)(p12;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.) tmpte7i6ely_mondo_relaxed.owl AML, t(10;11)(p12;q23) NCIT:C132101|NCIT:C132102 owl:Class CHEBI:76838 biolink:NamedThing EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*). tmpte7i6ely_mondo_relaxed.owl EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|EC 1.14.14.* inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitor|EC 1.14.14.* inhibitor owl:Class MONDO:0009443 biolink:NamedThing autosomal recessive congenital ichthyosis 4B Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. tmpte7i6ely_mondo_relaxed.owl Harlequin fetus|autosomal recessive congenital ichthyosis type 4B|harlequin ichthyosis|hi|ichthyosis congenita, Harlequin type|ichthyosis fetalis, Harlequin type|ARCI4B|ichthyosis, congenital, autosomal recessive 4B|ichthyosis, congenital, autosomal recessive type 4B|ichthyosis congenita, Harlequin fetus type|harlequin type ichthyosis fetalis|'Harlequin fetus'|harlequin type ichthyosis congenita SCTID:205548006|MedDRA:10019163|OMIM:242500|UMLS:C0239849|ICD10:Q80.4|GARD:0006568|DOID:0060713|Orphanet:457|NCIT:C98934 owl:Class UBERON:0013165 biolink:NamedThing epiglottic vallecula tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030963 biolink:NamedThing Li-Campeau syndrome tmpte7i6ely_mondo_relaxed.owl LICAS OMIM:619189 owl:Class MONDO:0004059 biolink:NamedThing dentin sensitivity Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli. tmpte7i6ely_mondo_relaxed.owl sensitive dentin SCTID:13468005|UMLS:C0011432|DOID:698|NCIT:C50778|MESH:D003807 owl:Class MONDO:0100125 biolink:NamedThing hallucinogen-persisting perception disorder A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses. tmpte7i6ely_mondo_relaxed.owl hallucinogen abuse with hallucinogen persisting perception disorder ICD10:F16.183 owl:Class MONDO:0029133 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant 4 tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, limb-girdle, autosomal dominant 4|LGMDD4|muscular dystrophy, limb-girdle, type 1I OMIM:618129 owl:Class GO:0033683 biolink:NamedThing nucleotide-excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. tmpte7i6ely_mondo_relaxed.owl nucleic acid cleavage involved in nucleotide-excision repair|DNA incision involved in nucleotide-excision repair owl:Class MONDO:0009385 biolink:NamedThing hyperleucine-Isoleucinemia tmpte7i6ely_mondo_relaxed.owl hyperleucine-Isoleucinemia OMIM:238340|SCTID:7046009|MESH:C562674|UMLS:C0268574 owl:Class MONDO:0001200 biolink:NamedThing secondary hypertension High blood pressure caused by an underlying medical condition. tmpte7i6ely_mondo_relaxed.owl SCTID:31992008|ICD10:I15|ICD9:405|DOID:11130|UMLS:C0155616|EFO:1002034|ICD9:405.99|ICD10:I15.9|NCIT:C3657|ICD9:405.9 owl:Class NCBITaxon:133423 biolink:NamedThing Batillus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ECTO:1000000 biolink:NamedThing exposure to environmental condition A exposure event involving the interaction of an exposure receptor to the condition of environmental condition. tmpte7i6ely_mondo_relaxed.owl environmental condition exposure owl:Class MONDO:0001463 biolink:NamedThing splenic flexure cancer A malignant neoplasm involving the splenic flexure of colon. tmpte7i6ely_mondo_relaxed.owl splenic flexure of colon cancer|malignant splenic flexure of colon neoplasm|malignant tumor of splenic flexure|malignant neoplasm of splenic flexure of colon|malignant neoplasm of splenic flexure|cancer of splenic flexure of colon|Ca splenic flexure - colon UMLS:C0153440|ICD10:C18.5|DOID:12191|ICD9:153.7|SCTID:363413005 owl:Class MONDO:0011481 biolink:NamedThing craniosynostosis 2 A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. tmpte7i6ely_mondo_relaxed.owl craniosynostosis type 2|MSX2-related craniosynostosis|CRS2|craniosynostosis 2|craniosynostosis Warman type|craniosynostosis, Warman type|Warman Mulliken Hayward syndrome|Warman-Mulliken-Hayward syndrome GARD:0005538|Orphanet:1541|OMIM:604757|SCTID:720817008|ICD10:Q75.8 owl:Class HGNC:6823 biolink:NamedThing MAN1B1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11752 biolink:NamedThing TFE3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002926 biolink:NamedThing clear cell sarcoma A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. tmpte7i6ely_mondo_relaxed.owl malignant melanoma of the soft parts|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)|adult soft part clear cell sarcoma|malignant melanoma of soft parts|malignant melanoma of soft tissues|clear cell sarcoma - not kidney|melanoma, malignant, of soft parts|clear cell sarcoma of soft tissue|chordoid sarcoma|clear cell sarcoma (morphologic abnormality)|clear cell sarcoma of soft parts SCTID:402561003|MESH:D018227|NCIT:C3745|EFO:0008498|ICD9:171.9|DOID:4233|ICDO:9044/3|ONCOTREE:CCS|UMLS:C0206651 owl:Class HGNC:8583 biolink:NamedThing SERPINE1 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33233 biolink:NamedThing fundamental particle A particle not known to have substructure. tmpte7i6ely_mondo_relaxed.owl elementary particles|elementary particle owl:Class MONDO:0002948 biolink:NamedThing skin fibroepithelial basal cell carcinoma A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. tmpte7i6ely_mondo_relaxed.owl fibroepithelioma of Pinkus type|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus|Pinkus tumor DOID:4291|UMLS:C0346013|NCIT:C4109|SCTID:254703005|ICDO:8093/3 owl:Class HP:0002475 biolink:NamedThing Myelomeningocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. tmpte7i6ely_mondo_relaxed.owl Spina bifida cystica|Meningomyelocele SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|MSH:D008591|UMLS:C0025312|Fyler:4309 Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. human_phenotype owl:Class NCBITaxon:197911 biolink:NamedThing Alphainfluenzavirus tmpte7i6ely_mondo_relaxed.owl Influenzavirus A GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011320 biolink:NamedThing radioulnar synostosis-microcephaly-scoliosis syndrome An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability|radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|Giuffré-Tsukahara syndrome|Giuffre-Tsukahara syndrome|radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation Orphanet:3268|OMIM:603438|UMLS:C1863881|GARD:0000394 owl:Class HGNC:10254 biolink:NamedThing ROM1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0012447 biolink:NamedThing Abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. tmpte7i6ely_mondo_relaxed.owl UMLS:C1857704 peter 2013-11-23T03:45:58Z human_phenotype owl:Class HGNC:10701 biolink:NamedThing SEC23A tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1314886 biolink:NamedThing Neobalantidium tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016976 biolink:NamedThing well-differentiated thymic neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN202278|ICD10:C37|SCTID:717922007|Orphanet:263331 owl:Class MONDO:0005425 biolink:NamedThing podoconiosis A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils. tmpte7i6ely_mondo_relaxed.owl nonfilarial elephantiasis|soil elephantiasis|non-filarial elephantiasis|elephantiasis from soil EFO:0004712|ICD9:457.1|SCTID:47595008|DOID:0050138 owl:Class MONDO:0018670 biolink:NamedThing symptomatic form of fragile X syndrome in female carrier tmpte7i6ely_mondo_relaxed.owl OMIM:300624|UMLS:CN237736|ICD10:Q99.2|Orphanet:449291 owl:Class MONDO:0044874 biolink:NamedThing refractory cytopenia of childhood The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. tmpte7i6ely_mondo_relaxed.owl refractory cytopenia of childhood|RCC ONCOTREE:RCYC|NCIT:C82596 owl:Class PATO:0002094 biolink:NamedThing basophilic An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. tmpte7i6ely_mondo_relaxed.owl owl:Class PATO:0002070 biolink:NamedThing affinity A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6138 biolink:NamedThing ITGA2B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011290 biolink:NamedThing dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability tmpte7i6ely_mondo_relaxed.owl dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation OMIM:603133|MESH:C566408|UMLS:C1864183 owl:Class MONDO:0009631 biolink:NamedThing isolated microphthalmia 1 A microphthalmia that has material basis in variation in the chromosomal region 14q32. tmpte7i6ely_mondo_relaxed.owl microphthalmia, isolated 1|Mcop|isolated microphthalmia type 1|anophthalmia, clinical, isolated|microphthalmos, autosomal recessive|MCOP1 UMLS:C1855052|DOID:0060840|Orphanet:2542|MESH:C565377|ICD10:Q11.0|OMIM:251600 owl:Class MONDO:0013893 biolink:NamedThing multiple sclerosis, susceptibility to, 5 Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene. tmpte7i6ely_mondo_relaxed.owl MS5|TNFRSF1A multiple sclerosis, susceptibility to|multiple sclerosis, susceptibility to, type 5|multiple sclerosis, susceptibility to, 5|susceptibility to multiple sclerosis 5|multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A OMIM:614810 owl:Class MONDO:0032758 biolink:NamedThing neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia tmpte7i6ely_mondo_relaxed.owl NDCAMA|NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA OMIM:618451 owl:Class GO:0097711 biolink:NamedThing ciliary basal body-plasma membrane docking The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. tmpte7i6ely_mondo_relaxed.owl ciliary basal body docking|anchoring of the basal body to the plasma membrane owl:Class MONDO:0013333 biolink:NamedThing odontoid hypoplasia An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. tmpte7i6ely_mondo_relaxed.owl odontoid hypoplasia NCIT:C86969|OMIM:613628 owl:Class MONDO:0004575 biolink:NamedThing choline deficiency disease A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) tmpte7i6ely_mondo_relaxed.owl choline deficiency MESH:D002796|ICD9:266.2|UMLS:C0008412|SCTID:238113006|DOID:8456 owl:Class ENVO:01000435 biolink:NamedThing montane forest tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001727 biolink:NamedThing active cochleovestibular Meniere disease tmpte7i6ely_mondo_relaxed.owl active cochleovestibular Meniere's disease|active Meniere's disease, cochleovestibular|active cochleovestibular Meniere disease|cochleovestibular active Mnire's disease DOID:13490|SCTID:194348002|ICD9:386.01|UMLS:C0155496 owl:Class MONDO:0011228 biolink:NamedThing creases, infra-auricular cutaneous, with tall stature and advanced bone age tmpte7i6ely_mondo_relaxed.owl creases, infra-auricular cutaneous, with tall stature and advanced bone age OMIM:602472|MESH:C566543|UMLS:C1865360 owl:Class MONDO:0014353 biolink:NamedThing immunodeficiency 23 tmpte7i6ely_mondo_relaxed.owl immunodeficiency 23|phosphoglucomutase 3 deficiency|phosphoglucomutase deficiency type 3|immunodeficiency type 23|PGM3-CDG|PGM3-EXACT congenital disorder of glycosylation|combined inflammatory and immunologic defect|IMD23|immunodeficiency-vasculitis-myoclonus syndrome|CID due to PGM3 deficiency|immunodeficiency with hyper IgE and cognitive impairment|combined immunodeficiency due to PGM3 deficiency GARD:0004331|ICD10:E77.8|OMIM:615816|UMLS:C1857617|OMIM:216920|UMLS:C4014371|Orphanet:443811|MESH:C565684 owl:Class MONDO:0004899 biolink:NamedThing monofixation syndrome tmpte7i6ely_mondo_relaxed.owl microstrabismus|microtropia UMLS:C0339611|DOID:9843|ICD10:H50.42|SCTID:14785004|ICD9:378.34 owl:Class MONDO:0012905 biolink:NamedThing hypomyelinating leukodystrophy 6 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. tmpte7i6ely_mondo_relaxed.owl hypomyelination with atrophy of basal ganglia and cerebellum|HLD6|hypomyelinating leukodystrophy type 6|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|leukodystrophy, hypomyelinating, 6|leukodystrophy, hypomyelinating, type 6|HABC|H-ABC UMLS:C2676244|ICD10:E75.2|OMIM:612438|Orphanet:139441|GARD:0010917|DOID:0060798|MESH:C567314 owl:Class MONDO:0012587 biolink:NamedThing hypertension, essential, susceptibility to, 7 tmpte7i6ely_mondo_relaxed.owl hypertension, essential, susceptibility to, type 7|Hyt7|hypertension, essential, susceptibility to, 7 OMIM:610948 owl:Class GO:0002087 biolink:NamedThing regulation of respiratory gaseous exchange by nervous system process A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates. tmpte7i6ely_mondo_relaxed.owl regulation of respiratory gaseous exchange by neurological system process|neurological control of breathing owl:Class CHEBI:64416 biolink:NamedThing EC 1.3.1.43 (arogenate dehydrogenase) inhibitor An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43). tmpte7i6ely_mondo_relaxed.owl EC 1.3.1.43 inhibitor|cyclohexadienyl dehydrogenase inhibitor|arogenate dehydrogenase (EC 1.3.1.43) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitor|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitor|cyclohexadienyl dehydrogenase inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitors|arogenate dehydrogenase (EC 1.3.1.43) inhibitor|TyrA(a) inhibitor|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitor|EC 1.3.1.43 (arogenate dehydrogenase) inhibitors|TyrA(a) inhibitors|arogenate dehydrogenase inhibitor|arogenate dehydrogenase inhibitors|EC 1.3.1.43 inhibitors|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitors owl:Class MONDO:0018884 biolink:NamedThing Roch-Leri mesosomatous lipomatosis Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. tmpte7i6ely_mondo_relaxed.owl Roch-Leri syndrome ICD10:E88.2|SCTID:716772007|UMLS:C4274284|GARD:0004733|Orphanet:529 https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis owl:Class MONDO:0043120 biolink:NamedThing male pseudohermaphroditism due to defective lh molecule tmpte7i6ely_mondo_relaxed.owl HGNC:6584|MESH:C535692|UMLS:C1835303|GARD:0003356 owl:Class MONDO:0006275 biolink:NamedThing lung giant cell carcinoma A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. tmpte7i6ely_mondo_relaxed.owl GCLC|giant cell carcinoma of the lung|giant cell carcinoma of lung|lung giant cell carcinoma|giant cell carcinoma|giant cell lung carcinoma MESH:D018286|SCTID:254631008|DOID:5583|NCIT:C4452|UMLS:C0206703|UMLS:C0345960|EFO:1000332|ICD9:162.9|ONCOTREE:GCLC owl:Class MONDO:0001850 biolink:NamedThing female breast lower-outer quadrant cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of lower-outer quadrant of female breast SCTID:188155002|DOID:13972|ICD10:C50.51|ICD9:174.5|UMLS:C0153553 owl:Class MONDO:0016423 biolink:NamedThing autoimmune polyendocrinopathy type 4 tmpte7i6ely_mondo_relaxed.owl APS4|autoimmune polyendocrine syndrome type 4|autoimmune polyglandular syndrome type 4|APS type 4 Orphanet:227990|ICD9:258.1|SCTID:449730005|UMLS:C3266026|ICD10:E31.0|UMLS:CN201378 owl:Class MONDO:0013300 biolink:NamedThing commissural facial cleft Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl commissural cleft, isolated|macrostomia, isolated|lateral cleft, isolated|transverse cleft, isolated|macrostomia OMIM:613545|ICD10:Q18.4|ICD9:744.83|Orphanet:141276|MESH:D008265|SCTID:40159009 owl:Class ECTO:9001655 biolink:NamedThing exposure to cofactor An exposure to cofactor. tmpte7i6ely_mondo_relaxed.owl exposure to cofactor owl:Class MONDO:0012376 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 55 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 55|autosomal recessive nonsyndromic deafness 55|deafness, autosomal recessive 55|DFNB55|autosomal recessive nonsyndromic deafness type 55 MESH:C538203|ICD10:H90.3|OMIM:609952|GARD:0009919|DOID:0110510 owl:Class GO:1903552 biolink:NamedThing negative regulation of extracellular exosome assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. tmpte7i6ely_mondo_relaxed.owl down regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly owl:Class NCBITaxon:8030 biolink:NamedThing Salmo salar tmpte7i6ely_mondo_relaxed.owl Atlantic salmon GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006838 biolink:NamedThing lupus vulgaris A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. tmpte7i6ely_mondo_relaxed.owl MESH:D008177|UMLS:C0024131|MedDRA:10025143|EFO:1001023|SCTID:10528009 owl:Class MONDO:0014674 biolink:NamedThing maturity-onset diabetes of the young type 14 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene. tmpte7i6ely_mondo_relaxed.owl maturity-onset diabetes of the young (disease) caused by mutation in APPL1|MODY14|maturity-onset diabetes of the young, type 14|APPL1 maturity-onset diabetes of the young (disease) DOID:0111111|OMIM:616511|UMLS:C4225299 owl:Class GO:0001992 biolink:NamedThing regulation of systemic arterial blood pressure by vasopressin The regulation of blood pressure mediated by the signaling molecule vasopressin. Vasopressin is produced in the hypothalamus, and affects vasoconstriction, and renal water transport. tmpte7i6ely_mondo_relaxed.owl vasopressin control of blood pressure|blood pressure regulation by vasopressin owl:Class MONDO:0006813 biolink:NamedThing intradermal nevus A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction. tmpte7i6ely_mondo_relaxed.owl dermal Nevus MESH:D018330|ICDO:8750/0|UMLS:C0206737|NCIT:C3804|MedDRA:10058537|EFO:1000995|SCTID:302838006 owl:Class MONDO:0017165 biolink:NamedThing bile acid CoA ligase deficiency and defective amidation Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. tmpte7i6ely_mondo_relaxed.owl Orphanet:276066|SCTID:717047007|UMLS:C4274079 owl:Class MONDO:0001921 biolink:NamedThing chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. tmpte7i6ely_mondo_relaxed.owl chronic atticoantral suppurative otitis media UMLS:C0565831|UMLS:C0155441|ICD10:H66.2|DOID:14248|ICD9:382.2|SCTID:267759006|ICD10:H66.20 owl:Class MONDO:0017939 biolink:NamedThing classic multiminicore myopathy tmpte7i6ely_mondo_relaxed.owl classic multiminicore disease|classic MmD Orphanet:324604|UMLS:CN204085|ICD10:G71.2|OMIM:602771 owl:Class MONDO:0007938 biolink:NamedThing 46,XY sex reversal 4 Sex reversal in an individual associated with a 9p24.3 deletion. tmpte7i6ely_mondo_relaxed.owl chromosome 9P24.3 deletion syndrome|46,XY sex reversal 4|46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|SRXY4|46,XY SEX reversal 4|46,XY Sex reversal type 4 Orphanet:251510|Orphanet:242|OMIM:154230|NCIT:C132270|DOID:0111771|MESH:C567887 owl:Class MONDO:0016568 biolink:NamedThing Lowe-Kohn-Cohen syndrome Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. tmpte7i6ely_mondo_relaxed.owl deafness-nephritis-ano-rectal malformation syndrome|dominant ano-rectal malformation, nephritis and nerve-deafness|Lowe Kohn Cohen syndrome|deafness nephritis anorectal malformation|deafness - nephritis - ano-rectal malformation SCTID:766249007|ICD10:Q87.8|MESH:C535996|Orphanet:2408|GARD:0001695|UMLS:C2931080 Editor note: check GARD assignment https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation owl:Class MONDO:0008108 biolink:NamedThing oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations. tmpte7i6ely_mondo_relaxed.owl Delleman-Oorthuys syndrome|OCCS|Delleman Oorthuys syndrome|OCC syndrome|orbital cyst with cerebral and focal dermal malformations|oculo-cerebro-cutaneous syndrome|oculocerebrocutaneous syndrome|Delleman syndrome|Leichtman-Wood-Rohn syndrome ICD10:Q87.8|UMLS:C0796092|ICD9:759.89|OMIM:164180|SCTID:403554008|GARD:0000106|MESH:C538088|Orphanet:1647 https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome owl:Class HGNC:18746 biolink:NamedThing SLURP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011561 biolink:NamedThing Alzheimer disease 6 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. tmpte7i6ely_mondo_relaxed.owl plasma Beta-amyloid-42 level quantitative trait locus|Alzheimer's disease 6|Alzheimer disease type 6|Alzheimer disease 6, late-onset|Alzheimer disease 6|Alzheimer disease 6, late onset|Alzheimer's disease type 6|AD6 DOID:0110038|ICD10:G30|MESH:C565325|OMIM:605526 owl:Class MONDO:0031007 biolink:NamedThing spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis tmpte7i6ely_mondo_relaxed.owl SHILCA|SHILCA Syndrome OMIM:619260 owl:Class MONDO:0012260 biolink:NamedThing cataract 35 A cataract that has material basis in variation in the region 19q13. tmpte7i6ely_mondo_relaxed.owl CATCN1|autosomal recessive congenital nuclear cataract 1|CTRCT35|cataract, congenital nuclear, autosomal recessive 1|cataract type 35|cataract 35, congenital nuclear|cataract 35 Orphanet:98991|OMIM:609376|Orphanet:91492|ICD10:Q12.0|MESH:C563728|UMLS:C1836272|DOID:0110261 owl:Class MONDO:0012777 biolink:NamedThing celiac disease, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl celiac disease, susceptibility to, 8|gluten-sensitive enteropathy, susceptibility to, 8|CELIAC8 OMIM:612006 owl:Class MONDO:0030500 biolink:NamedThing Loeys-Dietz syndrome 6 tmpte7i6ely_mondo_relaxed.owl LDS6 OMIM:619656 owl:Class MONDO:0010208 biolink:NamedThing wrinkly skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). tmpte7i6ely_mondo_relaxed.owl wrinkled skin syndrome|wrinkly skin syndrome|WSS GARD:0000273|MESH:C536750|OMIM:278250|ICD9:259.8|SCTID:238875009|Orphanet:357058|UMLS:C0406587|Orphanet:2834|ICD10:Q82.8 owl:Class MONDO:0044325 biolink:NamedThing Fanconi anemia, complementation group W tmpte7i6ely_mondo_relaxed.owl Fanconi anemia, complementation group W|FANCW OMIM:617784|UMLS:CN653907 owl:Class MONDO:0012120 biolink:NamedThing pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period. tmpte7i6ely_mondo_relaxed.owl PDHPD|lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency ICD10:E74.4|MESH:C536258|Orphanet:765|GARD:0009888|OMIM:608782|Orphanet:79246|UMLS:C1837429 https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency owl:Class MONDO:0003368 biolink:NamedThing prostate leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells. tmpte7i6ely_mondo_relaxed.owl leiomyosarcoma of prostate gland|prostate leiomyosarcoma|prostate gland leiomyosarcoma|leiomyosarcoma of prostate|leiomyosarcoma of the prostate UMLS:C1335511|DOID:5282|NCIT:C5526 owl:Class MONDO:0012254 biolink:NamedThing multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, multiple, with miniepiphyses Orphanet:166032|OMIM:609325|MESH:C563735|UMLS:C1836307|ICD10:Q77.3 owl:Class MONDO:0006981 biolink:NamedThing subacute bacterial endocarditis Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. tmpte7i6ely_mondo_relaxed.owl SBE|Subacute bacterial endocarditis|Subacute endocarditis, lenta|SBE - Subacute bacterial endocarditis|endocarditis lenta UMLS:C0014122|MedDRA:10042271|MESH:D004698|EFO:1001193|SCTID:73774007|NCIT:C34583|DOID:4562 owl:Class MONDO:0010744 biolink:NamedThing thrombocytopenia with elevated serum IgA and renal disease tmpte7i6ely_mondo_relaxed.owl thrombocytopenia with elevated serum IgA and renal disease GARD:0010576|UMLS:C1839162|OMIM:314000|MESH:C564051 owl:Class MONDO:0018604 biolink:NamedThing familial colorectal cancer type X Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. tmpte7i6ely_mondo_relaxed.owl FCCTX|familial colorectal cancer type X Orphanet:440437|ICD10:C18.0|UMLS:C3896578|ICD10:C18.4|ICD10:C18.3|ICD10:C18.7|NCIT:C120084|ICD10:C18.5|ICD10:C18.2|UMLS:CN237636|ICD10:C18.1|ICD10:C18.6 owl:Class MONDO:0020402 biolink:NamedThing congenital accessory mitral valve tissue Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations. tmpte7i6ely_mondo_relaxed.owl ICD10:Q23.8|Orphanet:99061 owl:Class ENVO:01001334 biolink:NamedThing advective transport process A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged. tmpte7i6ely_mondo_relaxed.owl advective transport owl:Class HP:0000164 biolink:NamedThing Abnormality of the dentition Any abnormality of the teeth. tmpte7i6ely_mondo_relaxed.owl Dental problems|Dental anomalies|Dental problem|Abnormality of the teeth|Dental abnormalities|Abnormal dentition|Tooth abnormalities|Abnormal teeth|Dental abnormality SNOMEDCT_US:422775003|MSH:D014071|UMLS:C0262444|UMLS:C0040427 Any abnormality of the primary (deciduous) or permanent teeth. HP:0006348|HP:0001567|HP:0006296 human_phenotype owl:Class MONDO:0016359 biolink:NamedThing limited systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. tmpte7i6ely_mondo_relaxed.owl systemic sclerosis sine scleroderma|progressive systemic sclerosis sine scleroderma|Scleroderma, sine|SSC without skin involvement|systemic sclerosis without skin involvement NCIT:C116789|ICD10:M34.0|SCTID:128461001|Orphanet:220407|GARD:0009749|UMLS:C1290138 owl:Class MONDO:0011571 biolink:NamedThing deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 tmpte7i6ely_mondo_relaxed.owl Dfna39/dentinogenesis imperfecta 1 syndrome|Dgi1/Dfna39 syndrome|Dfna39/Dgi1 syndrome|deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1 OMIM:605594|Orphanet:166260|UMLS:C1854146|MESH:C565316 owl:Class GO:0044853 biolink:NamedThing plasma membrane raft A membrane raft that is part of the plasma membrane. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014053 biolink:NamedThing stomatin-like protein-2, hyperphosphorylation of tmpte7i6ely_mondo_relaxed.owl stomatin-like protein-2, hyperphosphorylation of|hyperphosphorylated Paratarg-7 2022-04-01 OMIM:615121 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0018125 biolink:NamedThing focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed. tmpte7i6ely_mondo_relaxed.owl focal epilepsy-intellectual disability-dysarthria-ataxia syndrome ICD10:Q04.8|UMLS:CN204502|Orphanet:352587 owl:Class CL:0002062 biolink:NamedThing type I pneumocyte A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange. tmpte7i6ely_mondo_relaxed.owl AT1|membranous pneumocytes|ATI|squamous alveolar lining cell|type I alveolar cells|lung type 1 cells|pulmonary alveolar type I cell|type I alveolar epithelial cells|squamous alveolar cell|type 1 pneumocyte|type 1 alveolar epithelial cells|small alveolar cells FMA:62500|BTO:0000780 tmeehan 2010-06-23T04:37:54Z cell owl:Class MONDO:0006912 biolink:NamedThing pneumatosis cystoides intestinalis The presence of gas within the wall of the large or small intestine. tmpte7i6ely_mondo_relaxed.owl SCTID:17465007|MESH:D011006|ICD9:569.89|UMLS:C0032266|DOID:13249|EFO:1001113|NCIT:C122580|MedDRA:10049732 owl:Class MONDO:0010251 biolink:NamedThing intellectual disability, X-linked 50 tmpte7i6ely_mondo_relaxed.owl MRX50|intellectual disability, X-linked 50|mental retardation, X-linked 50 Orphanet:777|MESH:C564713|OMIM:300115|UMLS:C1848087 owl:Class MONDO:0024508 biolink:NamedThing epilepsy, hot water, 1 tmpte7i6ely_mondo_relaxed.owl water immersion epilepsy|HWE1|epilepsy, hot water, 1|bathing epilepsy OMIM:613339|UMLS:C0393729|Orphanet:166412 owl:Class HP:0000112 biolink:NamedThing Nephropathy A nonspecific term referring to disease or damage of the kidneys. tmpte7i6ely_mondo_relaxed.owl Kidney disease|Kidney damage UMLS:C0022658|UMLS:C1408258|SNOMEDCT_US:90708001|MSH:D007674 human_phenotype owl:Class MONDO:0014291 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 54 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 54|autosomal dominant nonsyndromic deafness type 54|autosomal dominant nonsyndromic deafness 54|DFNA54|autosomal dominant deafness 54 OMIM:615649|DOID:0110580|ICD10:H90.3 owl:Class MONDO:0001830 biolink:NamedThing somatization disorder Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V) tmpte7i6ely_mondo_relaxed.owl Polysomatising disorder|Briquet's disorder|Somatisation disorder SCTID:397923000|ICD10:F45.0|DOID:13918|MESH:D013001|ICD9:300.81 owl:Class MONDO:0019082 biolink:NamedThing bullous pemphigoid Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. tmpte7i6ely_mondo_relaxed.owl Senile dermatitis herpetiformis|benign pemphigus|Parapemphigus|pemphigoid|bullous pemphigoid|Old Age pemphigus EFO:0007187|DOID:8506|SCTID:77090002|MESH:D010391|ICD10:L12|ICD10:L12.9|UMLS:C0030805|Orphanet:703|ICD10:L12.0|GARD:0005972|NCIT:C84389|ICD9:694.5 owl:Class MONDO:0010776 biolink:NamedThing hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial tmpte7i6ely_mondo_relaxed.owl hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial UMLS:C1839021|OMIM:500005|MESH:C564024 owl:Class MONDO:0005398 biolink:NamedThing upper aerodigestive tract neoplasm Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) tmpte7i6ely_mondo_relaxed.owl EFO:0004284|ICD9:239.89|SCTID:439361000 owl:Class MONDO:0012886 biolink:NamedThing inflammatory bowel disease 22 An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 22|inflammatory bowel disease type 22|IBD22 UMLS:C2676485|DOID:0110905|OMIM:612380|MESH:C567327 owl:Class MONDO:0008508 biolink:NamedThing symphalangism, C. S. Lewis type tmpte7i6ely_mondo_relaxed.owl symphalangism, C. S. Lewis type|thumbs, stiff UMLS:C1861404|MESH:C566100|OMIM:185650 owl:Class MONDO:0000687 biolink:NamedThing diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. tmpte7i6ely_mondo_relaxed.owl marginal alopecia|Celsus' vitiligo|patchy alopecia|Jonston's alopecia|Cazenave's vitiligo|alopecia celsi SCTID:46586006|MESH:C531609|DOID:0060157 owl:Class MONDO:0011446 biolink:NamedThing myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders tmpte7i6ely_mondo_relaxed.owl myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders UMLS:C1858478|OMIM:604363|MESH:C565786 owl:Class MONDO:0012469 biolink:NamedThing myopia 14 tmpte7i6ely_mondo_relaxed.owl myopia 14|MYP14 UMLS:C1853196|MESH:C565202|OMIM:610320 owl:Class MONDO:0016384 biolink:NamedThing hypogonadotropic hypogonadism-frontoparietal alopecia syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. tmpte7i6ely_mondo_relaxed.owl Salti-Salem syndrome UMLS:CN201280|Orphanet:2230|SCTID:721842008|ICD10:E23.0 owl:Class MONDO:0033614 biolink:NamedThing spastic paraplegia 83, autosomal recessive tmpte7i6ely_mondo_relaxed.owl SPG83 OMIM:619027 owl:Class MONDO:0000293 biolink:NamedThing coenurosis A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs. tmpte7i6ely_mondo_relaxed.owl coenurosis|infection by tapeworm larva|infection by larvae of multiceps|caenurosis|coenuriasis|sturdy UMLS:C0009225|SCTID:24360007|ICD9:123.8|DOID:0050251 owl:Class CL:0002120 biolink:NamedThing CD24-positive CD38-negative IgG-negative class switched memory B cell An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative. tmpte7i6ely_mondo_relaxed.owl cell owl:Class HGNC:362 biolink:NamedThing AK2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002559 biolink:NamedThing plexiform schwannoma A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck. tmpte7i6ely_mondo_relaxed.owl plexiform neurinoma|plexiform schwannoma (morphologic abnormality)|plexiform neurilemmoma|plexiform schwannoma SCTID:404025004|ICD9:215.9|NCIT:C6969|UMLS:C1370659|DOID:3206 owl:Class MONDO:0023140 biolink:NamedThing fenton Wilkinson Toselano syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002287 https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome owl:Class MONDO:0013306 biolink:NamedThing combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. tmpte7i6ely_mondo_relaxed.owl C12orf65 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|C12ORF65 combined oxidative phosphorylation deficiency|severe C12ORF65-related COXPD|combined oxidative phosphorylation deficiency type 7|severe C12ORF65-related combined oxidative phosphorylation defect|combined oxidative phosphorylation deficiency 7|COXPD7 DOID:0111487|UMLS:C3150801|Orphanet:254930|SCTID:763204003|OMIM:613559|ICD10:G31.8 owl:Class MONDO:0001455 biolink:NamedThing retinal lattice degeneration tmpte7i6ely_mondo_relaxed.owl palisade degeneration of retina DOID:12165|ICD10:H35.41|ICD9:362.63|UMLS:C0154856|SCTID:3577000 owl:Class MONDO:0010900 biolink:NamedThing intrauterine growth retardation with increased mitomycin c sensitivity tmpte7i6ely_mondo_relaxed.owl intrauterine growth retardation with increased mitomycin c sensitivity GARD:0005593|OMIM:600546|MESH:C536744|Orphanet:808 https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity owl:Class NCBITaxon:147553 biolink:NamedThing Pneumocystidomycetes tmpte7i6ely_mondo_relaxed.owl Archiascomycota GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:424574 biolink:NamedThing Solaneae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:59252 biolink:NamedThing linear tetrapyrrole anion An organic anion arising from deprotonation of a acyclic tetrapyrrole compound. tmpte7i6ely_mondo_relaxed.owl acyclic tetrapyrrole anion|acyclic tetrapyrrole anions|linear tetrapyrrole anions owl:Class MONDO:0020636 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a complete deficiency tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001288 biolink:NamedThing endometriosis of rectovaginal septum and vagina Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina. tmpte7i6ely_mondo_relaxed.owl vaginal endometriosis UMLS:C0156346|ICD10:N80.4|NCIT:C128064|ICD9:617.4|SCTID:198253003|DOID:11431 owl:Class HGNC:18501 biolink:NamedThing RPS4Y2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010538 biolink:NamedThing Mononen-Karnes-Senac syndrome Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. tmpte7i6ely_mondo_relaxed.owl skeletal dysplasia brachydactyly|thumbs and great toes short and abducted|Mononen Karnes Senac syndrome|brachydactyly, Mononen type|Mononen type brachydactyly|short and abducted thumbs and great toes|skeletal dysplasia-brachydactyly syndrome|thumbs and great toes, short and abducted|brachydactyly Mononen type ICD10:Q87.5|SCTID:733095006|Orphanet:2565|UMLS:C2931060|MESH:C535914|OMIM:301940|GARD:0004886|DOID:0110973 https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type owl:Class MONDO:0006488 biolink:NamedThing vaginal carcinosarcoma An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component. tmpte7i6ely_mondo_relaxed.owl vaginal malignant mixed Mullerian tumor|vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed mesodermal (Müllerian) tumor|malignant vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed mesodermal (Mullerian) tumor|vaginal carcinosarcoma UMLS:C1519918|UMLS:C1512974|EFO:1000618|NCIT:C40278|DOID:136 owl:Class MONDO:0005678 biolink:NamedThing bovine respiratory disease complex A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. tmpte7i6ely_mondo_relaxed.owl EFO:0007180|MESH:D048090|UMLS:C1449809 owl:Class MONDO:0100077 biolink:NamedThing congenital alveolar dysplasia A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis. tmpte7i6ely_mondo_relaxed.owl CAD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0001363 biolink:NamedThing blind hypertensive eye tmpte7i6ely_mondo_relaxed.owl ICD9:360.42|DOID:11776|SCTID:264008|UMLS:C0154789 owl:Class NCBITaxon:188550 biolink:NamedThing Raphignathae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:83145 biolink:NamedThing Eleutherengona tmpte7i6ely_mondo_relaxed.owl Eleutherengonides GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004833 biolink:NamedThing plantar fasciitis Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. tmpte7i6ely_mondo_relaxed.owl ICD10:M72.2|EFO:1001909|SCTID:202882003|MESH:D036981|DOID:9600|UMLS:C0149756 owl:Class HP:0008372 biolink:NamedThing Abnormality of vitamin A metabolism tmpte7i6ely_mondo_relaxed.owl UMLS:C4024686 peter 2008-04-04T12:29:00Z human_phenotype owl:Class MONDO:0007523 biolink:NamedThing Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, type III|benign hypermobility syndrome|hEDS|BJHS|Ehlers-Danlos syndrome, hypermobility type|benign joint hypermobility syndrome|Ehlers-Danlos syndrome, hypermobile type|EDS3 (formerly)|EDSHMB|HT-EDS|hypermobile EDS|EDS III|hypermobile Ehlers-Danlos syndrome|EDS 3|Ehlers-Danlos syndrome, type 3|Ehlers-Danlos syndrome type 3|Ehlers-Danlos syndrome type 3 (formerly) MESH:C536196|SCTID:30652003|GARD:0002081|DOID:14757|OMIM:130020|NCIT:C125698|Orphanet:285|ICD10:Q79.6|UMLS:C0268337 owl:Class GO:1904783 biolink:NamedThing positive regulation of NMDA glutamate receptor activity Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity. tmpte7i6ely_mondo_relaxed.owl up regulation of NMDA glutamate receptor activity|positive regulation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of NMDA receptor|up-regulation of N-methyl-D-aspartate selective glutamate receptor activity|activation of NMDA glutamate receptor activity|activation of NMDA receptor|upregulation of NMDA glutamate receptor activity|up-regulation of NMDA glutamate receptor activity|upregulation of N-methyl-D-aspartate selective glutamate receptor activity|activation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA receptor|up-regulation of NMDA receptor|positive regulation of NMDA receptor owl:Class HGNC:12874 biolink:NamedThing ZIC3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009396 biolink:NamedThing hyperparathyroidism, neonatal self-limited primary, with hypercalciuria tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MESH:C565496|OMIM:239199|UMLS:C1855924 owl:Class MONDO:0006513 biolink:NamedThing estrogen-receptor negative breast cancer A subtype of breast cancer that is estrogen-receptor negative tmpte7i6ely_mondo_relaxed.owl ER- breast cancer EFO:1000650|DOID:0060076 owl:Class MONDO:0012150 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl attention Deficit-hyperactivity disorder, susceptibility to, type 2|attention deficit-hyperactivity disorder, susceptibility to, 2|Adhd2 OMIM:608904 owl:Class MONDO:0010409 biolink:NamedThing syndromic X-linked intellectual disability Shrimpton type X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic 9|mental retardation, X-linked, syndromic 9|X-linked intellectual disability, Shrimpton type|MRXS9 OMIM:300709|DOID:0060813|ICD10:Q87.8|UMLS:C2678039|MESH:C567474|Orphanet:85324 owl:Class MONDO:0005673 biolink:NamedThing blind loop syndrome A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. tmpte7i6ely_mondo_relaxed.owl stasis syndrome|stasis (blind loop) syndrome|bacterial overgrowth syndrome|blind loop syndrome UMLS:C0005750|ICD10:K90.2|DOID:10606|ICD9:579.2|EFO:0007175|NCIT:C34431|SCTID:66379009|MESH:D001765 owl:Class MONDO:0008630 biolink:NamedThing urinary bladder, atony of tmpte7i6ely_mondo_relaxed.owl atony of urinary bladder|urinary bladder, atony of OMIM:191800 owl:Class MONDO:0012363 biolink:NamedThing retinitis pigmentosa 32 A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 32|RP32|retinitis pigmentosa 32 MESH:C563689|ICD10:H35.5|OMIM:609913|GARD:0010395|UMLS:C1835927|DOID:0110355 https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32 owl:Class NCBITaxon:5061 biolink:NamedThing Aspergillus niger tmpte7i6ely_mondo_relaxed.owl Aspergillus lacticoffeatus GC_ID:1|PMID:21892240 NCBITaxon:319628 ncbi_taxonomy owl:Class MONDO:0023272 biolink:NamedThing goniodysgenesis intellectual disability short stature tmpte7i6ely_mondo_relaxed.owl GARD:0002545 https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature owl:Class HGNC:19689 biolink:NamedThing RD3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032843 biolink:NamedThing oculopharyngeal myopathy with leukoencephalopathy 1 tmpte7i6ely_mondo_relaxed.owl OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1|OPML1 OMIM:618637 owl:Class MONDO:0033092 biolink:NamedThing ichthyosis, congenital, autosomal recessive 13 tmpte7i6ely_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 13|ARCI13|autosomal recessive congenital ichthyosis 13 OMIM:617574|UMLS:CN321864|DOID:0080257 owl:Class MONDO:0032586 biolink:NamedThing diarrhea 10, protein-losing enteropathy type tmpte7i6ely_mondo_relaxed.owl DIAR10|DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE OMIM:618183 owl:Class MONDO:0018717 biolink:NamedThing mixed cystic lymphatic malformation tmpte7i6ely_mondo_relaxed.owl mixed cystic lymphangioma ICD10:D18.1|Orphanet:458792 owl:Class NCBITaxon:49202 biolink:NamedThing Dermacentor marginatus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017566 biolink:NamedThing macrodactyly of toes, unilateral tmpte7i6ely_mondo_relaxed.owl macrodactyly of foot, unilateral ICD10:Q74.2|Orphanet:295243 owl:Class NCBITaxon:1903411 biolink:NamedThing Yersiniaceae tmpte7i6ely_mondo_relaxed.owl PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003690 biolink:NamedThing adult anaplastic ependymoma An anaplastic ependymoma occurring in adults. tmpte7i6ely_mondo_relaxed.owl adult anaplastic ependymoma|anaplastic ependymoma|malignant adult ependymoma|anaplastic ependymoma of adults|adult malignant ependymoma UMLS:C0280787|DOID:5890|NCIT:C8269 owl:Class MONDO:0032878 biolink:NamedThing neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia tmpte7i6ely_mondo_relaxed.owl NEDBASH|NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA OMIM:618718 owl:Class MONDO:0021012 biolink:NamedThing susceptibility to visceral leishmaniasis, 1 tmpte7i6ely_mondo_relaxed.owl leishmaniasis, visceral, susceptibility to, 1|kala-Azar, susceptibility to, 1|KAZA1 OMIM:608207 owl:Class MONDO:0004511 biolink:NamedThing lower clivus meningioma A meningioma that affects the lower clivus. tmpte7i6ely_mondo_relaxed.owl meningioma of Lower clivus|meningioma of the lower clivus DOID:8239|NCIT:C5288|UMLS:C1334434 owl:Class HP:0000123 biolink:NamedThing Nephritis The presence of inflammation affecting the kidney. tmpte7i6ely_mondo_relaxed.owl Kidney inflammation UMLS:C0027697|SNOMEDCT_US:52845002|MSH:D009393 HP:0008634 human_phenotype owl:Class ENVO:00000015 biolink:NamedThing ocean A marine water body which is constitutes the majority of an astronomical body's hydrosphere. tmpte7i6ely_mondo_relaxed.owl ocean region|Ocean|ocean owl:Class MONDO:0013305 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 51 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. tmpte7i6ely_mondo_relaxed.owl autosomal dominant deafness 51|DFNA51|autosomal dominant nonsyndromic deafness 51|deafness, autosomal dominant type 51|deafness, autosomal dominant 51|chromosome 9q21.11 duplication syndrome|chromosome 9Q21.11 Duplication syndrome|autosomal dominant nonsyndromic deafness type 51 UMLS:C3160736|OMIM:613558|DOID:0110577|ICD10:H90.3 owl:Class MONDO:0003279 biolink:NamedThing testicular infarct Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. tmpte7i6ely_mondo_relaxed.owl testicular infarction|infarction of testis DOID:5104|SCTID:33793000|NCIT:C27617|UMLS:C0392041 owl:Class MONDO:0017926 biolink:NamedThing multiple paragangliomas associated with polycythemia tmpte7i6ely_mondo_relaxed.owl paraganglioma-somatostatinoma-polycythemia syndrome|multiple paragangliomas associated with erythrocytosis Orphanet:324299|UMLS:CN204064 owl:Class MONDO:0033652 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 17 tmpte7i6ely_mondo_relaxed.owl MC4DN17 OMIM:619061 owl:Class MONDO:0012772 biolink:NamedThing Stevenson-Carey syndrome tmpte7i6ely_mondo_relaxed.owl Stevenson-Carey syndrome MESH:C567446|OMIM:611961|UMLS:C2677763 owl:Class MONDO:0007238 biolink:NamedThing amastia Absence of one or both mammary glands. tmpte7i6ely_mondo_relaxed.owl athelia|amazia|complete absence of breasts|amastia|absent breasts and nipples|breasts and/or nipples, aplasia or hypoplasia of, 1|BNAH1 UMLS:CN033494|GARD:0009489|Orphanet:180188|NCIT:C118459|SCTID:75474006|MESH:C535565|OMIM:113700 https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples owl:Class MONDO:0004537 biolink:NamedThing intestinal variant cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma. tmpte7i6ely_mondo_relaxed.owl cervical mucinous adenocarcinoma, intestinal variant|cervical mucinous adenocarcinoma, intestinal-type|intestinal type mucinous carcinoma DOID:8339|ONCOTREE:ICEMU|NCIT:C40203|UMLS:C1516422 owl:Class MONDO:0016098 biolink:NamedThing immune-mediated necrotizing myopathy Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. tmpte7i6ely_mondo_relaxed.owl immune myopathy with myocyte necrosis|anti-SRP myopathy|anti-HMG-CoA myopathy|necrotizing autoimmune myopathy|autoimmune necrotizing myositis|IMNM|NAM SCTID:715863001|ICD10:G72.4|Orphanet:206569|GARD:0013307 owl:Class UBERON:0007772 biolink:NamedThing scrotal sweat tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020441 biolink:NamedThing right superior vena cava connecting to left-sided atrium Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported. tmpte7i6ely_mondo_relaxed.owl right SVC connecting to left-sided atrium|right superior caval vein connecting to left-sided atrium ICD10:Q26.8|Orphanet:99110 owl:Class HGNC:4311 biolink:NamedThing GCLC tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2074 biolink:NamedThing CLN3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032747 biolink:NamedThing hydatidiform mole, recurrent, 4 tmpte7i6ely_mondo_relaxed.owl HYDM4|HYDATIDIFORM MOLE, RECURRENT, 4 OMIM:618432 owl:Class HGNC:17866 biolink:NamedThing HAVCR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004439 biolink:NamedThing periocular meningioma A meningioma that affects the periocular region. tmpte7i6ely_mondo_relaxed.owl NCIT:C6777|DOID:8030|UMLS:C1335383 owl:Class MONDO:0021750 biolink:NamedThing pyonephrosis Pus within the collecting system of the kidney. tmpte7i6ely_mondo_relaxed.owl Infected Hydronephrosis|pyonephrosis|Hydronephrosis, Infected|Pyonephrosis SCTID:48631008|NCIT:C123032|MESH:D053018|UMLS:C0034216 owl:Class MONDO:0004169 biolink:NamedThing premenstrual tension A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. tmpte7i6ely_mondo_relaxed.owl ICD9:625.4|UMLS:C0376356|DOID:727|MESH:D011293|ICD10:N94.3 owl:Class MONDO:0060715 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 3 tmpte7i6ely_mondo_relaxed.owl HFTC3|tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM:617994 owl:Class MONDO:0009507 biolink:NamedThing Lambert syndrome Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. tmpte7i6ely_mondo_relaxed.owl Lambert syndrome|branchial dysplasia clubfoot inguinal hernia and biliary atresia|branchial dysplasia-intellectual disability-inguinal hernia syndrome|branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia ICD10:Q87.8|GARD:0003169|SCTID:732961003|MESH:C538396|OMIM:245550|UMLS:C1855551|Orphanet:1296 https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome owl:Class MONDO:0012706 biolink:NamedThing familial temporal lobe epilepsy 4 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. tmpte7i6ely_mondo_relaxed.owl familial temporal lobe epilepsy type 4|ETL4|epilepsy, occipitotemporal lobe, and migraine with aura|occipitotemporal lobe epilepsy and migraine with aura|epilepsy, familial temporal lobe, 4|EPOLM Orphanet:98819|OMIM:611631|UMLS:C1968847|DOID:0060753|MESH:C566902 owl:Class MONDO:0003707 biolink:NamedThing distal biliary tract carcinoma A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. tmpte7i6ely_mondo_relaxed.owl distal biliary tract carcinoma|extrahepatic (distal) bile duct cancer|carcinoma of distal biliary tract|distal bile duct carcinoma|carcinoma of the distal biliary tract|distal bile duct cancer UMLS:C1333308|DOID:5923|NCIT:C7109 owl:Class MONDO:0032600 biolink:NamedThing Snijders Blok-Campeau syndrome tmpte7i6ely_mondo_relaxed.owl SNIBCPS|intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies|SNIJDERS BLOK-CAMPEAU SYNDROME OMIM:618205 owl:Class MONDO:0037939 biolink:NamedThing porphyria Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. tmpte7i6ely_mondo_relaxed.owl porphyria SCTID:418470004 Represents both genetic and sporadic forms owl:Class MONDO:0054736 biolink:NamedThing mosaic variegated aneuploidy syndrome 3 tmpte7i6ely_mondo_relaxed.owl MVA3|MOSAIC variegated aneuploidy syndrome 3 OMIM:617598 owl:Class HP:0002725 biolink:NamedThing Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. tmpte7i6ely_mondo_relaxed.owl SLE SNOMEDCT_US:55464009|UMLS:C0024141|MSH:D008180 This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. human_phenotype owl:Class MONDO:0010675 biolink:NamedThing muscular dystrophy, cardiac type tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, cardiac type OMIM:309930|UMLS:C1442927|MESH:C563247 owl:Class MONDO:0013254 biolink:NamedThing microcephaly, seizures, and developmental delay tmpte7i6ely_mondo_relaxed.owl microcephaly - seizures - developmental delay|microcephaly, seizures, and developmental delay|epileptic encephalopathy, early infantile, 10|EIEE10|MCSZ|early infantile epileptic encephalopathy-10 OMIM:613402|GARD:0010933|UMLS:C3150667|Orphanet:228418|DOID:0080457 https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay owl:Class CL:0002359 biolink:NamedThing placental hematopoietic stem cell A hematopoietic stem cell of the placenta. This cell type is first observed E10.5 This cell type may give rise to fetal liver hematopoietic stem cells. tmpte7i6ely_mondo_relaxed.owl tmeehan 2010-09-22T10:30:02Z cell owl:Class MONDO:0001750 biolink:NamedThing non-renal secondary hyperparathyroidism tmpte7i6ely_mondo_relaxed.owl ICD9:252.02|DOID:13575 owl:Class MONDO:0007894 biolink:NamedThing Leri pleonosteosis Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. tmpte7i6ely_mondo_relaxed.owl Leri pleonosteosis|chromosome 8q22.1 DUPLICATION syndrome|pleonosteosis Leri type|Leri's pleonosteosis|Leri type pleonosteosis Orphanet:2900|ICD10:Q68.8|OMIM:151200|GARD:0000088|MESH:C537118|UMLS:C1835450 https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis owl:Class MONDO:0017798 biolink:NamedThing Spigelian hernia-cryptorchidism syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:314432|ICD10:K43.6|UMLS:CN203757 owl:Class MONDO:0016977 biolink:NamedThing moderately-differentiated thymic neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl ICD10:C37|Orphanet:263335|UMLS:CN202279 owl:Class HGNC:11048 biolink:NamedThing SLC6A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002987 biolink:NamedThing spongiotic dermatitis A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication. tmpte7i6ely_mondo_relaxed.owl ICD9:692.9|EFO:1000768|SCTID:23615008|UMLS:C0262984|NCIT:C27037|DOID:4406 owl:Class ENVO:21001215 biolink:NamedThing visible spectrum radiation A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm. tmpte7i6ely_mondo_relaxed.owl optical radiation|visible light owl:Class MONDO:0008563 biolink:NamedThing thumb stiffness-brachydactyly-intellectual disability syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. tmpte7i6ely_mondo_relaxed.owl Thumb ankylosis with mental retardation|Thumb ankylosis with intellectual disability|Piussan-Lenaerts-Mathieu syndrome|thumb stiff brachydactyly mental retardation|thumbs, STIFF, with brachydactyly type A1 and developmental delay|thumb stiff brachydactyly intellectual disability ICD10:Q87.2|GARD:0004375|Orphanet:1078|OMIM:188201|GARD:0005200 owl:Class MONDO:0011218 biolink:NamedThing autosomal recessive congenital ichthyosis 11 tmpte7i6ely_mondo_relaxed.owl ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ichthyosis-hypotrichosis syndrome|hypotrichosis-congenital ichthyosis syndrome|ichthyosis, congenital, autosomal recessive type 11|ichthyosis, congenital, autosomal recessive 11|autosomal recessive congenital ichthyosis 11|autosomal recessive ichthyosis with hypotrichosis|ARIH|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ARCI11|IFAH syndrome|autosomal recessive congenital ichthyosis type 11|IHS|ichthyosis with hypotrichosis, autosomal recessive DOID:0060720|GARD:0010116|OMIM:602400|Orphanet:91132|UMLS:C1835851|MESH:C536273|ICD10:Q80.8 owl:Class MONDO:0003892 biolink:NamedThing acinar lung adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05) tmpte7i6ely_mondo_relaxed.owl lung acinar adenocarcinoma|acinar lung adenocarcinoma|acinar adenocarcinoma of the lung|acinar adenocarcinoma of lung UMLS:C1332137|DOID:6482|NCIT:C5649 owl:Class MONDO:0009673 biolink:NamedThing spinal muscular atrophy, type II Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpte7i6ely_mondo_relaxed.owl Dubowitz disease|spinal muscular atrophy type 2|SMA type 2|Sma 2|spinal muscular atrophy type II|spinal muscular atrophy, type 2|muscular atrophy, spinal, infantile chronic form|proximal spinal muscular atrophy type 2|chronic spinal muscular atrophy|muscular atrophy, spinal, Intermediate type|SMA-II|SMA type II|Intermediate spinal muscular atrophy|SMA2|SMA II|muscular atrophy, spinal, intermediate type|chronic infantile spinal muscular atrophy|spinal muscular atrophy, type II OMIM:253550|ICD9:335.19|ICD10:G12.1|Orphanet:83418|Orphanet:70|MESH:C536879|GARD:0004945|DOID:0050530|SCTID:128212001 owl:Class MONDO:0000460 biolink:NamedThing neural glioblastoma A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5. tmpte7i6ely_mondo_relaxed.owl glioblastoma neural subtype|neural glioblastoma UMLS:C3828832|DOID:0050806|NCIT:C111693 owl:Class MONDO:0013486 biolink:NamedThing spinocerebellar ataxia type 32 Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males. tmpte7i6ely_mondo_relaxed.owl SCA32|cerebellar ataxia with azoospermia and intellectual disability|spinocerebellar ataxia 32 UMLS:C4304844|UMLS:C3151343|Orphanet:276183|ICD10:G11.8|SCTID:719254001|OMIM:613909 owl:Class CHEBI:51422 biolink:NamedThing organodiyl group Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). tmpte7i6ely_mondo_relaxed.owl organodiyl groups owl:Class MONDO:0016469 biolink:NamedThing Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries. tmpte7i6ely_mondo_relaxed.owl EDS, vascular-like type UMLS:CN201458|SCTID:720862007|ICD10:Q79.6|Orphanet:230845 owl:Class MONDO:0006928 biolink:NamedThing proliferative vitreoretinopathy Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. tmpte7i6ely_mondo_relaxed.owl autosomal dominant neovascular inflammatory vitreoretinopathy|VRNI|vitreoretinopathy, neovascular inflammatory, autosomal dominant|ADNIV|retinitis proliferans|vitreoretinopathy, neovascular inflammatory ICD9:362.29|ICD10:H35.2|DOID:9719|EFO:1001129|SCTID:232016005|Orphanet:329211|OMIM:193235|UMLS:C0242852|MESH:D018630|MedDRA:10057896 owl:Class MONDO:0016317 biolink:NamedThing limbic encephalitis with NMDA receptor antibodies Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. tmpte7i6ely_mondo_relaxed.owl limbic encephalitis with N-methyl-D-aspartate receptor antibodies ICD10:G13.1|Orphanet:217253|SCTID:716684004|UMLS:C4274344|UMLS:CN201135 owl:Class MONDO:0000963 biolink:NamedThing esophageal lipoma A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections. tmpte7i6ely_mondo_relaxed.owl lipoma of the esophagus|esophagus lipoma|lipoma of esophagus|esophageal lipoma UMLS:C1333455|NCIT:C5701|DOID:10187 owl:Class MONDO:0013682 biolink:NamedThing vesicoureteral reflux 4 tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux 4|VUR4 Orphanet:289365|UMLS:C3280439|OMIM:614317 owl:Class MONDO:0019077 biolink:NamedThing warty dyskeratoma A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. tmpte7i6ely_mondo_relaxed.owl isolated follicular keratosis|follicular dyskeratoma NCIT:C4087|MedDRA:10068856|SCTID:254676008|Orphanet:69745|UMLS:C0334063 owl:Class MONDO:0007919 biolink:NamedThing lymphatic malformation 1 Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene. tmpte7i6ely_mondo_relaxed.owl LMPH1A|Nonne-Milroy lymphedema|hereditary lymphedema caused by mutation in FLT4|hereditary lymphedema type I|lymphedema, early-onset|early onset lymphedema|FLT4 hereditary lymphedema|Nonne-Milroy disease|lymphedema, hereditary, type 1A|hereditary lymphedema 1|Milroy disease|lymphedema, hereditary, 1A|Nonne-Milroy syndrome|congenital hereditary lymphedema|Nonne’s syndrome|congenital primary lymphedema|primary congenital lymphedema OMIM:153100|GARD:0007220|SCTID:399889006|Orphanet:79452|DOID:0070210 https://github.com/monarch-initiative/mondo/issues/2768 owl:Class MONDO:0009252 biolink:NamedThing essential fructosuria Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. tmpte7i6ely_mondo_relaxed.owl fructosuria, essential|ketohexokinase deficiency|hepatic fructokinase deficiency|fructokinase deficiency Orphanet:2056|SCTID:40278002|OMIM:229800|MESH:C538068|DOID:0111680|ICD10:E74.11|ICD10:E74.1|MedDRA:10015487|UMLS:C0268160 owl:Class MONDO:0004058 biolink:NamedThing pancreatic cholera A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. tmpte7i6ely_mondo_relaxed.owl Verner Morrison syndrome|WDHA syndrome|excessive vasoactive intestinal peptide secretion|watery diarrhea with hypokalemic alkalosis|watery diarrhea syndrome|pancreatic WDHA syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome|islet cell WDHA syndrome|WDHH SCTID:39998009|DOID:6977|ICD9:259.3|NCIT:C3488 owl:Class NCBITaxon:2572478 biolink:NamedThing Oesophagostominae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009142 biolink:NamedThing dystonia with Ringbinden tmpte7i6ely_mondo_relaxed.owl dystonia with Ringbinden OMIM:224550|UMLS:C1857089|MESH:C565608 owl:Class MONDO:0009259 biolink:NamedThing gamma-glutamylcysteine synthetase deficiency Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. tmpte7i6ely_mondo_relaxed.owl glutamate-cysteine ligase deficiency|rare inborn error of glutamate-cysteine ligase activity|inborn error of glutamate-cysteine ligase activity|gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|inborn glutamate-cysteine ligase activity disorder DOID:0111681|SCTID:36799008|Orphanet:33574|ICD9:270.8|OMIM:230450|MESH:C565557|ICD10:D55.1 owl:Class HP:0012443 biolink:NamedThing Abnormality of brain morphology A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. tmpte7i6ely_mondo_relaxed.owl Abnormality of the brain|Abnormal shape of brain UMLS:C4021085 peter 2013-11-23T02:38:00Z human_phenotype owl:Class HGNC:14291 biolink:NamedThing NLGN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001520 biolink:NamedThing kleptomania A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft. tmpte7i6ely_mondo_relaxed.owl kleptomania|pathological stealing ICD10:F63.2|NCIT:C94333|SCTID:69361009|DOID:12400|ICD9:312.32 owl:Class MONDO:0002984 biolink:NamedThing reticulohistiocytic granuloma A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 tmpte7i6ely_mondo_relaxed.owl solitary Reticulohistiocytoma|solitary reticulohistiocytoma|solitary histiocytoma|Reticulohistiocytoma|reticulohistiocytic granuloma (morphologic abnormality)|solitary reticulohistiocytosis MESH:D015616|SCTID:404162004|ICD9:277.89|GARD:0012967|NCIT:C3356|UMLS:C0035290|DOID:4394 owl:Class MONDO:0012379 biolink:NamedThing asthma-related traits, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl ASRT3|asthma-related traits, susceptibility to, 3|asthma-related traits, susceptibility to, type 3 OMIM:609958 owl:Class HGNC:4706 biolink:NamedThing GYS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004409 biolink:NamedThing nipple duct carcinoma A carcinoma that develops in the ducts of the nipple. tmpte7i6ely_mondo_relaxed.owl nipple duct carcinoma NCIT:C27234|DOID:7953|UMLS:C1334967 owl:Class MONDO:0032908 biolink:NamedThing CEBALID syndrome tmpte7i6ely_mondo_relaxed.owl CEBALID SYNDROME|MN1 C-terminal truncation syndrome|CEBALID|Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development|MCTT OMIM:618774 owl:Class GO:0032147 biolink:NamedThing activation of protein kinase activity Any process that initiates the activity of an inactive protein kinase. tmpte7i6ely_mondo_relaxed.owl protein kinase activation owl:Class CHEBI:38337 biolink:NamedThing pyrimidone A pyrimidine carrying one or more oxo substituents. tmpte7i6ely_mondo_relaxed.owl pyrimidones owl:Class MONDO:0012388 biolink:NamedThing myopia 11, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 11, autosomal dominant|MYP11 MESH:C566490|UMLS:C1864941|OMIM:609994 owl:Class HGNC:6619 biolink:NamedThing LIPC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032614 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2|EV2 OMIM:618231 owl:Class MONDO:0002910 biolink:NamedThing peroneal neuropathy Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) tmpte7i6ely_mondo_relaxed.owl peroneal neuropathy DOID:4201|MESH:D020427|NCIT:C27596|UMLS:C0747533 owl:Class HGNC:6447 biolink:NamedThing KRT9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018193 biolink:NamedThing testicular teratoma tmpte7i6ely_mondo_relaxed.owl teratoma of the testis|teratoma of testis|testicular teratoma|testicular teratoma (disease) testicular teratoma (disease) ICD10:C62.9|Orphanet:363483|HP:0100616|EFO:1000573|OMIM:273300|NCIT:C3877 owl:Class MONDO:0010469 biolink:NamedThing epsilon-trimethyllysine hydroxylase deficiency tmpte7i6ely_mondo_relaxed.owl TMLHED|EPSILON-trimethyllysine HYDROXYLASE deficiency|AUTSX6|epsilon-trimethyllysine hydroxylase deficiency|susceptibility to X-linked autism 6|autism, susceptibility to, X-linked 6 UMLS:C3550875|OMIM:300872 owl:Class MONDO:0020806 biolink:NamedThing sinoatrial block A heart block that is initiated in the sinoatrial node. tmpte7i6ely_mondo_relaxed.owl SCTID:65778007 owl:Class MONDO:0006749 biolink:NamedThing mixed epithelioid and spindle cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes. tmpte7i6ely_mondo_relaxed.owl mixed epithelioid and spindle cell melanoma SCTID:254811006|EFO:1000925|MESH:D018332|ICDO:8770/3|NCIT:C66756 owl:Class HGNC:26877 biolink:NamedThing CKAP2L tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054817 biolink:NamedThing leukodystrophy, hypomyelinating, 17 tmpte7i6ely_mondo_relaxed.owl leukodystrophy, hypomyelinating, 17|HLD17 OMIM:618006|UMLS:CN248514 owl:Class MONDO:0015772 biolink:NamedThing trisomy 8q Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. tmpte7i6ely_mondo_relaxed.owl Duplication 8q|8q duplication|partial trisomy 8q|chromosome 8q duplication|trisomy type 8q|8q trisomy GARD:0005362|ICD10:Q92.2|Orphanet:1752|UMLS:C0795829|NCIT:C36428|MESH:C538020 owl:Class MONDO:0011404 biolink:NamedThing Caronte tmpte7i6ely_mondo_relaxed.owl Caronte|Car OMIM:604172 Editor note: TODO check owl:Class MONDO:0014146 biolink:NamedThing autosomal dominant hypocalcemia 2 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. tmpte7i6ely_mondo_relaxed.owl autosomal dominant hypocalcemia type 2|hypocalcemia, autosomal dominant type 2|hypocalcemia, autosomal dominant 2|HYPOC2 UMLS:C3809243|Orphanet:2238|DOID:0090108|Orphanet:428|OMIM:615361 owl:Class MONDO:0044328 biolink:NamedThing short-rib thoracic dysplasia 20 with polydactyly Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). tmpte7i6ely_mondo_relaxed.owl SRTD20|short-rib thoracic dysplasia 20 with polydactyly OMIM:617925|UMLS:CN902090 owl:Class MONDO:0012697 biolink:NamedThing otosclerosis 7 tmpte7i6ely_mondo_relaxed.owl otosclerosis 7|OTSC7 UMLS:C1969044|MESH:C566913|OMIM:611572 owl:Class HP:0031093 biolink:NamedThing Abnormal breast morphology Any anomaly of the structure of the breast. tmpte7i6ely_mondo_relaxed.owl 2017-06-30 15:41:38+00:00 robinp human_phenotype owl:Class MONDO:0011616 biolink:NamedThing holoprosencephaly 6 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. tmpte7i6ely_mondo_relaxed.owl holoprosencephaly 6|holoprosencephaly type 6|HPE6 MESH:C565274|DOID:0110874|UMLS:C1853830|OMIM:605934|Orphanet:2162 owl:Class MONDO:0023152 biolink:NamedThing fibrocartilaginous embolism Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy. tmpte7i6ely_mondo_relaxed.owl embolism, fibrocartilaginous MESH:C537927|UMLS:C2931666|GARD:0009718 https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism owl:Class MONDO:0017856 biolink:NamedThing X-linked spasticity-intellectual disability-epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:3175|ICD10:G25.3|UMLS:CN203866|OMIM:308350 owl:Class MONDO:0600005 biolink:NamedThing venom allergy An allergic disease involving venom. tmpte7i6ely_mondo_relaxed.owl IgE-mediated venom hypersensitivity|venom hypersensitivity http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0100427 biolink:NamedThing non-iatrogenic A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011282 biolink:NamedThing tumor suppressor gene on chromosome 11 tmpte7i6ely_mondo_relaxed.owl tumor suppressor Gene on chromosome type 11|Tsg11|tumor suppressor gene on chromosome 11|Nonsmall cell lung cancer suppressor UMLS:C1864232|OMIM:603040 owl:Class MONDO:0012298 biolink:NamedThing omphalocele, diaphragmatic hernia, and radial ray defects tmpte7i6ely_mondo_relaxed.owl Gershoni-Baruch syndrome|omphalocele, diaphragmatic hernia, and radial ray defects UMLS:C1836007|OMIM:609545|MESH:C563701|GARD:0010354 owl:Class MONDO:0001373 biolink:NamedThing urinary bladder posterior wall cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of posterior wall of urinary bladder UMLS:C0153612|ICD10:C67.4|SCTID:188243001|ICD9:188.4|DOID:11811 owl:Class MONDO:0006605 biolink:NamedThing scalp dermatosis Dermotosis of scalp tmpte7i6ely_mondo_relaxed.owl dermatosis of scalp EFO:1000761|UMLS:C0036271|SCTID:402694007|DOID:3136|MESH:D012536 owl:Class MONDO:0016392 biolink:NamedThing cerebellar hypoplasia-tapetoretinal degeneration syndrome Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. tmpte7i6ely_mondo_relaxed.owl cerebellar hypoplasia tapetoretinal degeneration DOID:0070339|OMIM:213000|Orphanet:2246|ICD10:Q04.3|GARD:0001196 https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration owl:Class IAO:8000002 biolink:NamedThing editors ontology module An ontology module that is intended to be directly edited, typically managed in source control, and typically not intended for direct consumption by end-users. tmpte7i6ely_mondo_relaxed.owl source ontology module editors ontology module owl:Class MONDO:0009425 biolink:NamedThing hypomandibular faciocranial dysostosis Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. tmpte7i6ely_mondo_relaxed.owl hypomandibular faciocranial dysostosis OMIM:241310|GARD:0002907|SCTID:721845005|Orphanet:1790|MESH:C537154|ICD10:Q75.4 https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis owl:Class MONDO:0007590 biolink:NamedThing hemifacial hypertrophy Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties. tmpte7i6ely_mondo_relaxed.owl facial hemihypertrophy|facial asymmetry|hemifacial hyperplasia|hemifacial hypertrophy UMLS:C1399354|ICD10:Q67.4|OMIM:133900|Orphanet:141145 owl:Class MONDO:0014127 biolink:NamedThing oculocutaneous albinism type 5 Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered. tmpte7i6ely_mondo_relaxed.owl oculocutaneous albinism type V|albinism, oculocutaneous, type V|OCA5 ICD10:E70.3|Orphanet:370091|OMIM:615312|UMLS:CN204842|DOID:0070099|SCTID:722057000 owl:Class MONDO:0020332 biolink:NamedThing systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia). tmpte7i6ely_mondo_relaxed.owl SM-AHN|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|SMAHN|systemic mastocytosis with associated hematologic neoplasm|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|systemic mastocytosis with an associated hematological neoplasm|SM-AHNMD Orphanet:98849|DOID:4797|EFO:1000559|SCTID:397015000|ONCOTREE:SMAHN|NCIT:C9284|ICDO:9741/3|ICD10:C96.2 owl:Class MONDO:0020358 biolink:NamedThing coloboma of optic disc Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). tmpte7i6ely_mondo_relaxed.owl coloboma of optic papilla 2022-05-01 Orphanet:98947|GARD:0001438|ICD10:Q14.2 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class CL:2000053 biolink:NamedThing splenic endothelial cell Any endothelial cell that is part of a spleen. tmpte7i6ely_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=5500 TermGenie 2014-10-06T19:06:04Z cell owl:Class MONDO:0015595 biolink:NamedThing posttransplant acute limbic encephalitis Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. tmpte7i6ely_mondo_relaxed.owl pale Orphanet:163921|ICD10:A86 owl:Class CHEBI:22478 biolink:NamedThing amino alcohol An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. tmpte7i6ely_mondo_relaxed.owl amino alcohols|aminoalcohol|aminoalcohols owl:Class MONDO:0030947 biolink:NamedThing neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities tmpte7i6ely_mondo_relaxed.owl CONRIBA OMIM:619173 owl:Class MONDO:0008372 biolink:NamedThing retinal aplasia tmpte7i6ely_mondo_relaxed.owl amaurosis congenita|retinal aplasia Orphanet:65|OMIM:179900|MESH:C566720|UMLS:C1867331 owl:Class MONDO:0001772 biolink:NamedThing ulcer of anus and rectum tmpte7i6ely_mondo_relaxed.owl anal and rectal ulcer DOID:13662|ICD10:K62.6|ICD9:569.41 owl:Class MONDO:0001447 biolink:NamedThing detrusor sphincter dyssynergia tmpte7i6ely_mondo_relaxed.owl detrusor sphincter dyssynergia (disease)|detrusor sphincter dyssynergia detrusor sphincter dyssynergia (disease) HP:0025488|SCTID:236655005|ICD9:596.55|DOID:12145|UMLS:C0341747 owl:Class NCBITaxon:194924 biolink:NamedThing Desulfovibrionaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:16403855 ncbi_taxonomy owl:Class MONDO:0042603 biolink:NamedThing Sanderson-Fraser syndrome tmpte7i6ely_mondo_relaxed.owl Sanderson Fraser syndrome|proptosis, Robin association, clenched hands, and multiple abnormalities MESH:C537232|UMLS:C2931450|GARD:0000153 owl:Class MONDO:0007996 biolink:NamedThing microphthalmia, isolated, with corectopia tmpte7i6ely_mondo_relaxed.owl microphthalmia and corectopia|microphthalmia, isolated, with corectopia|MCOPCR|microphthalmia with myopia and corectopia OMIM:156900|UMLS:C1834918|MESH:C563581 owl:Class MONDO:0004296 biolink:NamedThing cervical lymphoepithelioma-like carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate. tmpte7i6ely_mondo_relaxed.owl cervical lymphoepithelioma-like carcinoma NCIT:C40193|DOID:7598|UMLS:C1516418 owl:Class MONDO:0043264 biolink:NamedThing post-traumatic epilepsy Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) tmpte7i6ely_mondo_relaxed.owl post-traumatic seizures, early|post-traumatic seizure, late|traumatic Epilepsies|seizure disorder, post-traumatic|Epilepsies, traumatic|seizure, early post-traumatic|seizure disorders, post-traumatic|early post-traumatic seizure|Epilepsies, post-traumatic|seizure, late post-traumatic|seizure disorder, post traumatic|post-traumatic seizure disorder|disorder, post-traumatic seizure|late post-traumatic seizure|concussive convulsion|PTE - post-traumatic epilepsy|seizures, late post-traumatic|epilepsy, traumatic|impact seizure|post-traumatic seizures, late|epilepsy, post traumatic|post-traumatic Epilepsies|convulsion, concussive|early post traumatic seizures|post-traumatic seizure, early|concussive convulsions|post-traumatic epilepsy|post traumatic seizure disorder|late post-traumatic seizures|post-traumatic seizure disorders|impact seizures|early post-traumatic seizures|convulsions, concussive|seizures, early post-traumatic|disorders, post-traumatic seizure|traumatic epilepsy|late post traumatic seizures MESH:D004834|GARD:0007437|UMLS:C0751126|SCTID:75023009 owl:Class MONDO:0012422 biolink:NamedThing type 1 diabetes mellitus 19 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3. tmpte7i6ely_mondo_relaxed.owl insulin-dependent diabetes mellitus 19|IDDM19|diabetes mellitus, insulin-dependent, 19 OMIM:610155|UMLS:C1857808|DOID:0110756|ICD10:E10|MESH:C565715 owl:Class MONDO:0001252 biolink:NamedThing Plummer disease Nodular enlargement of the thyroid gland associated with hyperthyroidism. tmpte7i6ely_mondo_relaxed.owl toxic nodular goiter|Plummer disease|Plummer's disease|Toxic goiter ICD10:E05.2|ICD9:242.30|EFO:0009191|NCIT:C35171|UMLS:C0342127|DOID:11277|ICD9:242.3|SCTID:57777000 owl:Class MONDO:0004242 biolink:NamedThing active peptic ulcer disease tmpte7i6ely_mondo_relaxed.owl GI bleeding ICD9:578.9|DOID:749|SCTID:74474003 owl:Class CL:0009022 biolink:NamedThing stromal cell of lamina propria of small intestine A stromal cell found in the lamina propria of the small intestine. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015641 biolink:NamedThing benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. tmpte7i6ely_mondo_relaxed.owl benign infantile focal epilepsy with midline spikes and waves during sleep|BIMSE Orphanet:166308 owl:Class MONDO:0007927 biolink:NamedThing congenital macroglossia tmpte7i6ely_mondo_relaxed.owl macroglossia OMIM:153630|Orphanet:2430|ICD9:750.15|SCTID:270516002|MESH:C531735|ICD10:Q38.2|UMLS:C0024421 owl:Class MONDO:0400006 biolink:NamedThing botryomycosis A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy. tmpte7i6ely_mondo_relaxed.owl bacterial pseudomycosis|pyoderma vegetans 2021-05-10 18:49:42+00:00 MPATH:859 http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0012151 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl Adhd3|attention deficit-hyperactivity disorder, susceptibility to, 3|attention Deficit-hyperactivity disorder, susceptibility to, type 3 OMIM:608905 owl:Class MONDO:0018283 biolink:NamedThing primary qualitative or quantitative defects of alpha-dystroglycan tmpte7i6ely_mondo_relaxed.owl primary dystroglycanopathy|primary alpha-dystroglycanopathy Orphanet:371040|ICD10:G71.2 owl:Class MONDO:0010146 biolink:NamedThing Kerion celsi A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. tmpte7i6ely_mondo_relaxed.owl trichophytia profunda capitis|susceptibility to Tinea imbricata|Trichophyton infection|TINEA imbricata, susceptibility to|Tinea capitis profunda|trichophytia profunda barbae SCTID:19087001|GARD:0003109|UMLS:C0276742|OMIM:275240|ICD10:B35.0|Orphanet:499 https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi owl:Class MONDO:0006663 biolink:NamedThing perinatal asphyxia A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process. tmpte7i6ely_mondo_relaxed.owl birth asphyxia|hypoxia neonatorum|HIE|asphyxia, in liveborn infant|asphyxia neonatorum|postnatal asphyxia|intrapartum asphyxia|hypoxic-ischemic encephalopathy|birth depression|perinatal depression|hypoxic and ischemic brain injury in the newborn|fetal asphyxia|perinatal hypoxia|asphyxia - birth|perinatal asphyxia|neonatal hypoxic and ischemic brain injury UMLS:C0004045|DOID:11088|SCTID:28314004|Orphanet:137577|MESH:D001238|EFO:1000824|GARD:0005857|ICD9:768.9|NCIT:C116313|ICD10:P84 Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782] https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum owl:Class MONDO:0100107 biolink:NamedThing non-neonatal early infantile epileptic encephalopathy Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010158 biolink:NamedThing T-substance anomaly tmpte7i6ely_mondo_relaxed.owl T-substance anomaly OMIM:276200 owl:Class MONDO:0009920 biolink:NamedThing Acrootoocular syndrome Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. tmpte7i6ely_mondo_relaxed.owl acrootoocular syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies|pseudopapilledema-blepharophimosis-hand anomalies syndrome|Aoo syndrome UMLS:C1849661|MESH:C564866|OMIM:264475|Orphanet:2980|ICD10:Q87.0|SCTID:720410001 owl:Class MONDO:0100391 biolink:NamedThing acute myeloid leukemia, t(2;12) Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.) tmpte7i6ely_mondo_relaxed.owl AML, t(2;12) NCIT:C173543 owl:Class GO:0098936 biolink:NamedThing intrinsic component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpte7i6ely_mondo_relaxed.owl intrinsic to postsynaptic membrane owl:Class HP:0002718 biolink:NamedThing Recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. tmpte7i6ely_mondo_relaxed.owl Bacterial infections, recurrent|Recurrent major bacterial infections|Frequent pyogenic infections|Frequent bacterial infections|Recurrent bacterial infections|Prone to bacterial infection|Susceptibility to pyogenic infection|Increased susceptibility to bacterial infections|Recurrent pyogenic infections UMLS:C2748958|UMLS:C1844383|UMLS:C4020846|SNOMEDCT_US:428875002 HP:0005355|HP:0005391|HP:0005361|HP:0005393|HP:0005410|HP:0005367 human_phenotype owl:Class MONDO:0020766 biolink:NamedThing neuropathy, congenital hypomyelinating, 3 tmpte7i6ely_mondo_relaxed.owl NEUROPATHY, CONGENITAL HYPOMYELINATING, 3|CHN3 OMIM:618186 owl:Class MONDO:0030054 biolink:NamedThing developmental and epileptic encephalopathy, 86 tmpte7i6ely_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86|DEE86|EIEE86|epileptic encephalopathy, early infantile, 86 OMIM:618910 owl:Class CHEBI:24129 biolink:NamedThing furans Compounds containing at least one furan ring. tmpte7i6ely_mondo_relaxed.owl oxacyclopenta-2,4-dienes owl:Class MONDO:0016308 biolink:NamedThing Niemann-Pick disease type C, late infantile neurologic onset tmpte7i6ely_mondo_relaxed.owl UMLS:CN201114|ICD10:E75.2|Orphanet:216978 owl:Class MONDO:0021132 biolink:NamedThing tertiary hyperparathyroidism An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. tmpte7i6ely_mondo_relaxed.owl tertiary hyperparathyroidism UMLS:C0271858|NCIT:C114821|SCTID:78200003|ICD9:588.89 owl:Class MONDO:0018209 biolink:NamedThing Alexander disease type I Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. tmpte7i6ely_mondo_relaxed.owl AxD type I UMLS:CN204729|ICD10:E75.2|OMIM:203450|Orphanet:363717 owl:Class MONDO:0006214 biolink:NamedThing follicular variant thyroid gland papillary carcinoma A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. tmpte7i6ely_mondo_relaxed.owl FVPTC UMLS:C3714651|EFO:1000261|NCIT:C126594 owl:Class MONDO:0009682 biolink:NamedThing muscular dystrophy, congenital, with rapid progression tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, with rapid progression OMIM:254100|MESH:C564983|UMLS:C1850840 owl:Class MONDO:0006679 biolink:NamedThing bladder neck obstruction Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. tmpte7i6ely_mondo_relaxed.owl obstruction of bladder neck or vesicourethral orifice SCTID:399072004|MedDRA:10005053|NCIT:C79541|DOID:13948|EFO:1000840|UMLS:C0005694|ICD10:N32.0|MESH:D001748|ICD9:596.0 owl:Class MONDO:0003712 biolink:NamedThing angiokeratoma of mibelli tmpte7i6ely_mondo_relaxed.owl DOID:5948|UMLS:C0263640|SCTID:62727008|NCIT:C3927 owl:Class MONDO:0012075 biolink:NamedThing oligodontia-cancer predisposition syndrome tmpte7i6ely_mondo_relaxed.owl oligodontia-colorectal cancer syndrome|tooth agenesis-colorectal cancer syndrome|autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|ODCRCS|oligodontia-cancer predisposition syndrome Orphanet:300576|OMIM:608615|UMLS:C1837750|MESH:C563898 owl:Class MONDO:0006805 biolink:NamedThing intermediate coronary syndrome Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. tmpte7i6ely_mondo_relaxed.owl Preinfarction angina|angina at rest|unstable angina|worsening angina|anginal chest pain at rest|impending infarction NCIT:C66911|DOID:8805|EFO:1000985|MESH:D000789|UMLS:C0002965|ICD10:I20.0|MedDRA:10022554|ICD9:411.1 owl:Class MONDO:0017461 biolink:NamedThing familial isolated clinodactyly of fingers Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. tmpte7i6ely_mondo_relaxed.owl Orphanet:295014|SCTID:763691008|ICD10:Q68.1 owl:Class MONDO:0043287 biolink:NamedThing superior vena cava syndrome Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. tmpte7i6ely_mondo_relaxed.owl superior vena cava syndrome|SVC syndrome|SVCS|superior vena cava obstruction|superior vena cava thrombosis|SVC obstruction NCIT:C3396|SCTID:63363004|GARD:0009264|MESH:D013479 owl:Class MONDO:0009108 biolink:NamedThing hyperdibasic aminoaciduria type 1 Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. tmpte7i6ely_mondo_relaxed.owl dibasic amino aciduria type 1|dibasic amino aciduria 1|dibasic amino aciduria I|dibasic aminoaciduria 1 MESH:C567132|Orphanet:1032|UMLS:C2673736|OMIM:222690|GARD:0001854|ICD10:E72.0 https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1 owl:Class MONDO:0001792 biolink:NamedThing epiphora due to insufficient drainage tmpte7i6ely_mondo_relaxed.owl SCTID:85042000|ICD10:H04.22|ICD9:375.22|DOID:13756|UMLS:C0155234 owl:Class MONDO:0001862 biolink:NamedThing malignant visceral pleura tumor tmpte7i6ely_mondo_relaxed.owl primary malignant neoplasm of visceral pleura SCTID:94140004|DOID:14033|UMLS:C0153496 owl:Class CHEBI:50818 biolink:NamedThing hematite tmpte7i6ely_mondo_relaxed.owl haematite|Blutstein|hematita|hematite|Haematit|blood stone|oligiste|oligist owl:Class CHEBI:50819 biolink:NamedThing ferric oxide tmpte7i6ely_mondo_relaxed.owl Eisentrioxid|iron(3+) oxide|iron trioxide|iron(III) oxide|Eisen(III)-oxid|diiron trioxide owl:Class MONDO:0013127 biolink:NamedThing asphyxiating thoracic dystrophy 3 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. tmpte7i6ely_mondo_relaxed.owl asphyxiating thoracic dystrophy type 3|ATD3|SRPS2B|short rib-polydactyly syndrome Saldino-Noonan type|SRTD3|polydactyly with neonatal chondrodystrophy, type III|short rib-polydactyly syndrome, type 1|asphyxiating thoracic dystrophy 3|SRPS1|polydactyly with neonatal chondrodystrophy type 1|short rib-polydactyly syndrome, Saldino-Noonan type|short rib-polydactyly syndrome type 1|short rib-polydactyly syndrome, type 3|SRPS type 1|short-rib thoracic dysplasia 3 with or without polydactyly|short rib-polydactyly syndrome, type IIB|SRPS3|polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, type 2B|type I short rib polydactyly syndrome|short rib-polydactyly syndrome, type I|polydactyly with neonatal chondrodystrophy, type I|Saldino-Noonan syndrome|polydactyly with neonatal chondrodystrophy, type 1|Verma-Naumoff syndrome GARD:0004834|ICD10:Q77.2|DOID:0110087|SCTID:27330009|Orphanet:93270|NCIT:C163755|DOID:0050549|OMIM:613091|Orphanet:474 owl:Class MONDO:0018018 biolink:NamedThing wild type ATTR amyloidosis tmpte7i6ely_mondo_relaxed.owl ATTRwt-related amyloidosis|wild type ATTR-related amyloidosis|SSA|Senile systemic amyloidosis|ATTRwt amyloidosis SCTID:237877004|ICD9:277.39|Orphanet:330001|UMLS:CN204235|UMLS:C0342623|ICD10:E85.8 owl:Class MONDO:0020456 biolink:NamedThing pleuro-pericardial cyst Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur. tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.8|Orphanet:99131 owl:Class GO:0017099 biolink:NamedThing very-long-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22. tmpte7i6ely_mondo_relaxed.owl very long-chain-acyl-CoA dehydrogenase activity owl:Class GO:0004466 biolink:NamedThing long-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. tmpte7i6ely_mondo_relaxed.owl long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity|palmitoyl-coenzyme A dehydrogenase activity|long-chain acyl-coenzyme A dehydrogenase activity|long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity|palmitoyl-CoA dehydrogenase activity owl:Class HGNC:16356 biolink:NamedThing USH1G tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:582 biolink:NamedThing APBB2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1980413 biolink:NamedThing Hantaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:438 biolink:NamedThing ALPL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022786 biolink:NamedThing cleft palate colobomata radial synostosis deafness tmpte7i6ely_mondo_relaxed.owl GARD:0001388 https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness owl:Class MONDO:0016607 biolink:NamedThing odontohypophosphatasia Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. tmpte7i6ely_mondo_relaxed.owl Orphanet:247685|OMIM:146300|NCIT:C131309|ICD10:E83.3|SCTID:708672004|UMLS:C1840322 owl:Class MONDO:0054697 biolink:NamedThing immunodeficiency 11b with atopic dermatitis tmpte7i6ely_mondo_relaxed.owl atopic dermatitis, elevated IgE, and eosinophilia|immunodeficiency 11B with ATOPIC dermatitis|IMD11B UMLS:C4539957|OMIM:617638 owl:Class MONDO:0014338 biolink:NamedThing IL21-related infantile inflammatory bowel disease tmpte7i6ely_mondo_relaxed.owl immunodeficiency, common variable, type 11|immunodeficiency, common variable, 11|CVID11|IL21 deficiency|IL21-related infantile IBD UMLS:C4014258|OMIM:615767|Orphanet:238569|Orphanet:477661 owl:Class HP:0000593 biolink:NamedThing Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. tmpte7i6ely_mondo_relaxed.owl Anterior chamber anomalies|Ocular anterior chamber abnormality|Abnormality of the anterior chamber SNOMEDCT_US:204142009|UMLS:C3152182 human_phenotype owl:Class MONDO:0054832 biolink:NamedThing corneal dystrophy, posterior polymorphous, 4 tmpte7i6ely_mondo_relaxed.owl PPCD4|corneal dystrophy, POSTERIOR polymorphous, 4 UMLS:CN248531|OMIM:618031 owl:Class MONDO:0007282 biolink:NamedThing cataract 29 A cataract that has material basis in variation in the region 2pter-p24. tmpte7i6ely_mondo_relaxed.owl cataract type 29|cataract 29, coralliform|CTRCT29|cataract 29 coralliform|cataract 29 UMLS:C3805409|Orphanet:91492|ICD10:Q12.0|DOID:0110232|OMIM:115800|Orphanet:98990 owl:Class MONDO:0007515 biolink:NamedThing ectopia pupillae tmpte7i6ely_mondo_relaxed.owl congenital eye malformation in which the pupils are displaced from their normal central position|ectopia pupillae|ectopia pupillae (disease)|familial ectopic pupil ectopia pupillae (disease) HP:0009918|SCTID:193523008|MESH:C536185|OMIM:129750|GARD:0008490 owl:Class MONDO:0009942 biolink:NamedThing pyknoachondrogenesis Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. tmpte7i6ely_mondo_relaxed.owl camera syndrome|association of skeletal defects resembling achondrogenesis with generalized bone sclerosis|pyknoachondrogenesis Orphanet:3003|ICD10:Q78.8|SCTID:719258003|OMIM:265880|MESH:C536251|GARD:0004610|UMLS:C1849523 https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis owl:Class HGNC:890 biolink:NamedThing AUH tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:601 biolink:NamedThing APOA2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:24475 biolink:NamedThing DMGDH tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:368 biolink:NamedThing AKAP10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054846 biolink:NamedThing epilepsy, familial adult myoclonic, 6 tmpte7i6ely_mondo_relaxed.owl cortical myoclonic tremor with epilepsy, Familial, 6|FAME6|epilepsy, FAMILIAL ADULT myoclonic, 6|benign Adult Familial myoclonic epilepsy 6 OMIM:618074|UMLS:CN252655|DOID:0111696 owl:Class NCBITaxon:266068 biolink:NamedThing Rickettsia sibirica subgroup tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007040 biolink:NamedThing Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. tmpte7i6ely_mondo_relaxed.owl ACPS 3|acrocephalopolysyndactyly type III|ACPS3|acrocephalopolysyndactyly type 3|ACPS with leg hypoplasia|Sakati syndrome|Sakati-Nyhan-Tisdale syndrome|Sakati-Nyhan syndrome ICD10:Q87.0|DOID:0060359|UMLS:C1275079|OMIM:101120|GARD:0000115|MESH:C537227|SCTID:403768004|Orphanet:3128 owl:Class HGNC:409 biolink:NamedThing ALDH1A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060556 biolink:NamedThing joint laxity, short stature, and myopia tmpte7i6ely_mondo_relaxed.owl joint laxity, short stature, and myopia|JLSM OMIM:617662|UMLS:C4540020|Orphanet:527450 owl:Class MONDO:0017620 biolink:NamedThing congenital sucrase-isomaltase deficiency without starch intolerance tmpte7i6ely_mondo_relaxed.owl disaccharide intolerance without starch intolerance|CSID without starch intolerance|congenital sucrose intolerance without starch intolerance|congenital sucrase-isomaltose malabsorption without starch intolerance ICD10:E74.3|Orphanet:306462 owl:Class CL:2000091 biolink:NamedThing endometrial microvascular endothelial cells Any microvascular endothelial cell that is part of a endometrial blood vessel. tmpte7i6ely_mondo_relaxed.owl TermGenie 2015-03-31T21:02:36Z cell owl:Class MONDO:0007373 biolink:NamedThing corneal degeneration, ribbonlike, with deafness tmpte7i6ely_mondo_relaxed.owl band keratopathy with deafness|corneal degeneration, ribbonlike, with deafness MESH:C565157|OMIM:121450|UMLS:C1852556 owl:Class MONDO:0007580 biolink:NamedThing esterase ES-2, regulator for tmpte7i6ely_mondo_relaxed.owl esterase ES-2, regulator for OMIM:133300 Editor note: consider obsoleting owl:Class MONDO:0012261 biolink:NamedThing autism, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 6|AUTS6 OMIM:609378|UMLS:C1836271 owl:Class MONDO:0022803 biolink:NamedThing coloboma porencephaly hydronephrosis tmpte7i6ely_mondo_relaxed.owl GARD:0001439 https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis owl:Class MONDO:0001228 biolink:NamedThing conjunctival folliculosis tmpte7i6ely_mondo_relaxed.owl acute follicular conjunctivitis UMLS:C0155143|ICD9:372.02|DOID:11219|ICD10:H10.01|SCTID:41308008 owl:Class MONDO:0010832 biolink:NamedThing Bardet-Biedl syndrome 3 tmpte7i6ely_mondo_relaxed.owl Bardet-Biedl syndrome 3|BBS3|Bardet-Biedl syndrome type 3 OMIM:600151|DOID:0110125|OMIM:209900|GARD:0000822|UMLS:C1859564|ICD10:Q87.89|MESH:C537911|Orphanet:110 https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3 owl:Class MONDO:0010681 biolink:NamedThing myelolymphatic insufficiency tmpte7i6ely_mondo_relaxed.owl Pelger-like anomaly with leukopenia and susceptibility to infections|Myelolymphatic insufficiency UMLS:C1839650|OMIM:310350 owl:Class HP:0030962 biolink:NamedThing Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. tmpte7i6ely_mondo_relaxed.owl 2017-04-18 13:00:44+00:00 robinp human_phenotype owl:Class MONDO:0007095 biolink:NamedThing ameloonychohypohidrotic syndrome tmpte7i6ely_mondo_relaxed.owl amelo-onycho-hypohidrotic syndrome|ameloonychohypohidrotic syndrome|hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis SCTID:715404000|MESH:C538245|UMLS:C1863006|GARD:0000647|OMIM:104570|Orphanet:1028|ICD10:Q82.4 https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome owl:Class MONDO:0017064 biolink:NamedThing thoracolumbosacral spina bifida aperta tmpte7i6ely_mondo_relaxed.owl UMLS:CN202423|Orphanet:268384 owl:Class MONDO:0030493 biolink:NamedThing spermatogenic failure 60 tmpte7i6ely_mondo_relaxed.owl SPGF60 OMIM:619646 owl:Class GO:0042995 biolink:NamedThing cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon. tmpte7i6ely_mondo_relaxed.owl cell process|cellular projection|cellular process owl:Class HGNC:894 biolink:NamedThing AVP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:18821 biolink:NamedThing LIPI tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006302 biolink:NamedThing micropapillary serous carcinoma An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio. tmpte7i6ely_mondo_relaxed.owl EFO:1000377|NCIT:C6882 owl:Class HP:0001663 biolink:NamedThing Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. tmpte7i6ely_mondo_relaxed.owl UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006 HP:0005166 human_phenotype owl:Class MONDO:0024485 biolink:NamedThing papillary urothelial hyperplasia A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003 tmpte7i6ely_mondo_relaxed.owl papillary urothelial hyperplasia NCIT:C27879 owl:Class HP:0011280 biolink:NamedThing Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. tmpte7i6ely_mondo_relaxed.owl Abnormality of urine Ca concentration|Abnormality of urine Ca2+ concentration UMLS:C4023434 peter 2011-12-30T03:27:02Z human_phenotype owl:Class CHEBI:38099 biolink:NamedThing thiadiazoles tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005434 biolink:NamedThing skin sensitivity to sun The response of human skin to sun exposure. tmpte7i6ely_mondo_relaxed.owl EFO:0004795 Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587 owl:Class MONDO:0002255 biolink:NamedThing hypertrophic elongation of cervix tmpte7i6ely_mondo_relaxed.owl UMLS:C0020561|ICD10:N88.4|DOID:2251|ICD9:622.6|SCTID:198353000 owl:Class MONDO:0017622 biolink:NamedThing congenital sucrase-isomaltase deficiency without sucrose intolerance tmpte7i6ely_mondo_relaxed.owl CSID without sucrose intolerance|disaccharide intolerance without sucrose intolerance|congenital sucrose-isomaltose malabsorption without sucrose intolerance Orphanet:306486|ICD10:E74.3 owl:Class MONDO:0007008 biolink:NamedThing uremia A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. tmpte7i6ely_mondo_relaxed.owl uremia of renal origin MedDRA:10046369|UMLS:C0041948|DOID:4676|ICD10:N19|MESH:D014511|EFO:1001226|SCTID:44730006 owl:Class MONDO:0007570 biolink:NamedThing erythema palmare hereditarium A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. tmpte7i6ely_mondo_relaxed.owl Red palms disease|lane disease|erythema palmare hereditarium Orphanet:231031|SCTID:763767006|OMIM:133000|UMLS:C1851502|MESH:C565041|ICD10:L59.8 owl:Class MONDO:0015794 biolink:NamedThing antenatal multiminicore disease with arthrogryposis multiplex congenita tmpte7i6ely_mondo_relaxed.owl multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis Orphanet:178148|GARD:0009129|UMLS:C1843691|ICD10:G71.2 owl:Class MONDO:0004942 biolink:NamedThing orbit lymphoma A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma. tmpte7i6ely_mondo_relaxed.owl lymphoma of the orbit|orbital lymphoma|lymphoma of orbit|primary orbital lymphoma|primary orbit lymphoma UMLS:C0271333|DOID:9986|GARD:0009719|MESH:C537131|NCIT:C6244|SCTID:13048006 owl:Class MONDO:0009040 biolink:NamedThing craniosynostosis-intellectual disability syndrome of 51N and Gettig tmpte7i6ely_mondo_relaxed.owl craniosynostosis-intellectual disability syndrome of Lin and Gettig|Lin-Gettig syndrome|craniosynostosis-mental retardation syndrome of Lin and Gettig OMIM:218649|GARD:0010282|UMLS:C1857473|MESH:C565664 owl:Class NCBITaxon:2732005 biolink:NamedThing Bamfordvirae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016993 biolink:NamedThing generalized peeling skin syndrome type C tmpte7i6ely_mondo_relaxed.owl generalized deciduous skin type C|peeling skin syndrome type C ICD10:Q80.8|Orphanet:263558|UMLS:CN202307 owl:Class MONDO:0010809 biolink:NamedThing familial chronic myelocytic leukemia-like syndrome A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). tmpte7i6ely_mondo_relaxed.owl familial CML-like syndrome|CML-like syndrome, familial|myelocytic leukemia-like syndrome, familial, chronic UMLS:C1838670|MESH:C536093|GARD:0010141|DOID:0060761|OMIM:600080 https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic owl:Class MONDO:0019857 biolink:NamedThing congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent. tmpte7i6ely_mondo_relaxed.owl Orphanet:95715|SCTID:717333002|ICD10:P72.2|UMLS:C4273914 owl:Class MONDO:0010405 biolink:NamedThing prostate cancer, hereditary, X-linked 2 tmpte7i6ely_mondo_relaxed.owl HPCX2|prostate cancer, hereditary, X-linked 2 OMIM:300704|UMLS:C2678047|MESH:C567477 owl:Class MONDO:0011074 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 7 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 7|autosomal dominant deafness 7|autosomal dominant nonsyndromic deafness type 7|DFNA7|autosomal dominant nonsyndromic deafness 7 OMIM:601412|UMLS:C1832379|DOID:0110591|ICD10:H90.3|MESH:C563321 owl:Class MONDO:0011886 biolink:NamedThing torsion dystonia 13 DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement. tmpte7i6ely_mondo_relaxed.owl primary dystonia with mixed phenotype|primary torsion dystonia with predominant craniocervical or upper limb onset|dystonia 13, torsion, autosomal dominant|DYT13|primary dystonia, DYT13 type|torsion dystonia type 13 SCTID:719278006|ICD10:G24.1|OMIM:607671|DOID:0090037|Orphanet:98807|MESH:C564354 owl:Class MONDO:0400004 biolink:NamedThing phrynoderma Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0035357 biolink:NamedThing portosinusoidal vascular disease tmpte7i6ely_mondo_relaxed.owl PSVD Orphanet:596937|ICD10:K76.8 owl:Class MONDO:0012018 biolink:NamedThing myopathy, myosin storage, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopathy, hyaline body, autosomal dominant|myopathy, myosin storage, autosomal dominant|MSMA|myopathy with lysis of type 1 myofibrils UMLS:C1842160|ICD9:359.89|OMIM:608358|MESH:C564253|Orphanet:53698|SCTID:699267007 owl:Class MONDO:0001435 biolink:NamedThing bullous retinoschisis tmpte7i6ely_mondo_relaxed.owl DOID:12108|SCTID:65545003|UMLS:C0344289|ICD9:361.12 owl:Class MONDO:0010868 biolink:NamedThing rippling muscle disease 1 tmpte7i6ely_mondo_relaxed.owl RMD1|rippling muscle disease 1|rippling muscle disease, 1 OMIM:600332|GARD:0009165|Orphanet:97238|DOID:0070308 owl:Class HGNC:6251 biolink:NamedThing KCNH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016549 biolink:NamedThing primary megaureter, adult-onset form tmpte7i6ely_mondo_relaxed.owl UMLS:CN201632|ICD10:Q62.2|Orphanet:238642 owl:Class MONDO:0006800 biolink:NamedThing ideomotor apraxia A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) tmpte7i6ely_mondo_relaxed.owl limb-kinetic apraxia|ideomotor dyspraxia|limb-kinetic apraxia (finding)|classic apraxia (finding) [ambiguous]|transcortical apraxia|classic apraxia|transcortical apraxia (finding) MESH:D020240|DOID:4627|EFO:1000980|ICD9:315.8|MedDRA:10021216|SCTID:229706001 owl:Class MONDO:0032829 biolink:NamedThing neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl NEDHIB|neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES OMIM:618603 owl:Class GO:0007420 biolink:NamedThing brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:84642 biolink:NamedThing Aeromonadaceae tmpte7i6ely_mondo_relaxed.owl Aeromonas group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0010054 biolink:NamedThing spinal muscular atrophy with intellectual disability tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy with mental retardation|spinal muscular atrophy with intellectual disability OMIM:271109|UMLS:C1849109|MESH:C564807 owl:Class MONDO:0008187 biolink:NamedThing panic disorder 1 tmpte7i6ely_mondo_relaxed.owl panic disorder 1|panic disorder with bladder conditions|panic disorder susceptibility locus, chromosome 13Q-related|PAND1|panic disorder|panic disorder with Joint laxity OMIM:167870 owl:Class HGNC:1093 biolink:NamedThing BPGM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021952 biolink:NamedThing autoimmune progesterone dermatitis Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries. tmpte7i6ely_mondo_relaxed.owl autoimmune progesterone urticaria|autoimmune progesterone dermatitis/urticaria|APD|progesterone dermatitis|autoimmune progesterone dermatitis SCTID:400009001|ICD9:708.8|MESH:C535299|UMLS:C1260879|GARD:0009139 https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis owl:Class UBERON:0003080 biolink:NamedThing anterior neural tube tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011025 biolink:NamedThing Cayman type cerebellar ataxia Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia, CAYMAN type|Cayman cerebellar ataxia|cerebellar ataxia, Cayman type|Cayman ataxia|Cayman type cerebellar ataxia|ATCAY DOID:0060694|MESH:C563363|UMLS:C1832585|SCTID:717332007|OMIM:601238|Orphanet:94122|ICD10:G11.0 owl:Class MONDO:0017532 biolink:NamedThing postaxial polydactyly type A, bilateral tmpte7i6ely_mondo_relaxed.owl UMLS:CN203263|Orphanet:295165|ICD10:Q69.0 owl:Class UBERON:0009752 biolink:NamedThing pancreas mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10411 biolink:NamedThing RPS24 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006388 biolink:NamedThing prolactin-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. tmpte7i6ely_mondo_relaxed.owl malignant prolactin secreting tumor of the pituitary gland|prolactin-producing pituitary gland carcinoma|malignant prolactin producing tumor of the pituitary|malignant prolactin producing pituitary tumor|malignant prolactin secreting neoplasm of pituitary gland|PRL producing pituitary gland carcinoma|malignant prolactin producing tumor of the pituitary gland|malignant prolactin secreting pituitary neoplasm|malignant prolactinoma of pituitary|malignant prolactin secreting pituitary gland tumor|malignant prolactinoma|malignant prolactinoma of pituitary gland|malignant prolactin producing neoplasm of the pituitary|malignant prolactin producing pituitary gland neoplasm|malignant prolactin secreting neoplasm of the pituitary|malignant prolactin secreting tumor of the pituitary|malignant prolactin secreting pituitary tumor|malignant prolactin producing tumor|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactin secreting tumor of pituitary gland|malignant prolactin secreting neoplasm of pituitary|malignant prolactinoma of the pituitary gland|malignant prolactin secreting pituitary gland neoplasm|malignant pituitary gland prolactinoma|malignant prolactin producing tumor of pituitary|malignant prolactin producing neoplasm of pituitary|malignant prolactin secreting tumor of pituitary|malignant pituitary prolactinoma|prolactin producing pituitary gland carcinoma|malignant prolactin producing tumor of pituitary gland|malignant prolactin producing neoplasm of pituitary gland|malignant prolactin producing pituitary neoplasm|malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin producing pituitary gland tumor|malignant prolactinoma of the pituitary UMLS:C1334614|NCIT:C5962|EFO:1000497 owl:Class MONDO:0002726 biolink:NamedThing cutaneous solitary mastocytoma A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. tmpte7i6ely_mondo_relaxed.owl skin solitary mastocytoma|solitary mastocytoma of skin|solitary mastocytoma of the skin MESH:D054705|EFO:1001844|DOID:3666|ICDO:9740/1|NCIT:C7138 owl:Class GO:0019751 biolink:NamedThing polyol metabolic process The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. tmpte7i6ely_mondo_relaxed.owl polyhydric alcohol metabolic process|polyol metabolism owl:Class MONDO:0003895 biolink:NamedThing periosteal osteogenic sarcoma An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. tmpte7i6ely_mondo_relaxed.owl periosteal osteosarcoma|juxtacortical chondroblastic osteosarcoma|PEOS|periosteal osteogenic sarcoma|periosteal osteosarcoma (morphologic abnormality) UMLS:C1377843|DOID:6489|ONCOTREE:PEOS|NCIT:C8970|ICDO:9193/3 owl:Class MONDO:0002901 biolink:NamedThing blood group incompatibility tmpte7i6ely_mondo_relaxed.owl CSP:0440-3703|UMLS:C0005806|DOID:4176 May be obsoleted as it represents a finding owl:Class MONDO:0032604 biolink:NamedThing retinitis pigmentosa 84 tmpte7i6ely_mondo_relaxed.owl RETINITIS PIGMENTOSA 84|RP84 OMIM:618220 owl:Class MONDO:0001927 biolink:NamedThing pulmonary valve insufficiency Dysfunction of the pulmonary valve characterized by incomplete valve closure. tmpte7i6ely_mondo_relaxed.owl pulmonic valve regurgitation|pulmonary regurgitation|pulmonary incompetence, non-rheumatic|pulmonary valvular regurgitation|pulmonary incompetence|pulmonary regurg.|regurgitation, pulmonary|pulmonary insufficiency following trauma and surgery|pulmonary valve regurgitation|pulmonic insufficiency DOID:14265|MESH:D011665|NCIT:C50848|SCTID:194995005 owl:Class MONDO:0020357 biolink:NamedThing coloboma of eyelid A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. tmpte7i6ely_mondo_relaxed.owl coloboma of the eyelid Orphanet:98946|NCIT:C98878|SCTID:95202004|UMLS:C0521573|ICD10:Q10.3 owl:Class MONDO:0002905 biolink:NamedThing mutism The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. tmpte7i6ely_mondo_relaxed.owl mutism (disease)|mutism mutism (disease) UMLS:C0026884|HP:0002300|MESH:D009155|DOID:4189 owl:Class MONDO:0020529 biolink:NamedThing ACTH-independent Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). tmpte7i6ely_mondo_relaxed.owl adrenal Cushing syndrome|corticotropin-independent Cushing syndrome|adrenocorticotropic hormone-independent Cushing syndrome ICD10:E24.8|Orphanet:99893|UMLS:CN207429 owl:Class MONDO:0023670 biolink:NamedThing Bardet-Biedl syndrome 20 tmpte7i6ely_mondo_relaxed.owl BBS20 OMIM:619471 owl:Class MONDO:0005827 biolink:NamedThing lipoatrophic diabetes A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. tmpte7i6ely_mondo_relaxed.owl Diabete, lipoatrophic|lipoatrophic Diabete|lipoatrophic diabetes mellitus|diabetes, lipoatrophic|lipoatrophic diabetes DOID:11712|NCIT:C34537|EFO:0007346|SCTID:127012008|MESH:D003923 owl:Class MONDO:0011239 biolink:NamedThing colobomatous macrophthalmia-microcornea syndrome tmpte7i6ely_mondo_relaxed.owl macrophthalmia, colobomatous, with microcornea|MACOM syndrome|MACOM Orphanet:468672|OMIM:602499|UMLS:C1865286|MESH:C566533 owl:Class UBERON:0018143 biolink:NamedThing transverse process of cervical vertebra tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001360 biolink:NamedThing blind hypotensive eye tmpte7i6ely_mondo_relaxed.owl DOID:11766|ICD9:360.41|UMLS:C0154788|SCTID:23360000 owl:Class MONDO:0015045 biolink:NamedThing alpha-heavy chain disease Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. tmpte7i6ely_mondo_relaxed.owl Mediterraneanl lymphoma|Mediterranean lymphoma|Alpha heavy chain disease|Immunoproliferative small intestinal disease|Alpha-HCD|Mediterranean abdominal lymphoma|Seligmann's disease|IPSID|alpha chain disease ICD10:C88.3|ICDO:9764/3|DOID:0060126|EFO:1001798|ICDO:9760/3|UMLS:C0021071|MESH:D007161|NCIT:C3132|Orphanet:100025 owl:Class MONDO:0009882 biolink:NamedThing plasma clot retraction factor, deficiency of tmpte7i6ely_mondo_relaxed.owl plasma clot retraction factor, deficiency of UMLS:C1849778|MESH:C564885|OMIM:262800 owl:Class MONDO:0023662 biolink:NamedThing lymphatic malformation 10 tmpte7i6ely_mondo_relaxed.owl LMPHM10 OMIM:619369 owl:Class MONDO:0008622 biolink:NamedThing tricho-retino-dento-digital syndrome Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. tmpte7i6ely_mondo_relaxed.owl Bork syndrome|Bork Stender Schmidt syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly MESH:C536576|SCTID:719910004|ICD10:Q82.4|OMIM:191482|GARD:0000938|Orphanet:1264|UMLS:C1860605 owl:Class MONDO:0010422 biolink:NamedThing Alzheimer disease 16 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. tmpte7i6ely_mondo_relaxed.owl Alzheimer's disease type 16|Alzheimer's disease 16|AD16|Alzheimer disease 16 DOID:0110036|UMLS:C2677888|MESH:C567463|OMIM:300756 owl:Class MONDO:0011251 biolink:NamedThing facial dysmorphism, cleft palate, hearing loss, and camptodactyly tmpte7i6ely_mondo_relaxed.owl facial dysmorphism, cleft palate, hearing loss, and camptodactyly MESH:C566524|OMIM:602556|UMLS:C1865203 owl:Class MONDO:0100393 biolink:NamedThing acute myeloid leukemia, t(8;16) Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.) tmpte7i6ely_mondo_relaxed.owl AML, t(8;16) NCIT:C175583 owl:Class MONDO:0012799 biolink:NamedThing hypertrophic cardiomyopathy 11 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. tmpte7i6ely_mondo_relaxed.owl hypertrophic cardiomyopathy 11|hypertrophic cardiomyopathy type 11|ACTC1 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 11|cardiomyopathy familial hypertrophic 11|cardiomyopathy, familial hypertrophic, type 11|hypertrophic cardiomyopathy caused by mutation in ACTC1|CMH11 OMIM:612098|DOID:0110317|MESH:C567419|UMLS:C2677506 owl:Class MONDO:0010025 biolink:NamedThing short stature-obesity syndrome tmpte7i6ely_mondo_relaxed.owl SSOS|short stature-obesity syndrome UMLS:C1849235|MESH:C564821|OMIM:269870 owl:Class MONDO:0003677 biolink:NamedThing lateral myocardial infarction tmpte7i6ely_mondo_relaxed.owl DOID:5853 owl:Class MONDO:0012304 biolink:NamedThing photoparoxysmal response 2 tmpte7i6ely_mondo_relaxed.owl photoparoxysmal response with or without idiopathic generalized epilepsy|PPR2|photoparoxysmal response 2 Orphanet:166409|OMIM:609572|UMLS:C1835967 owl:Class MONDO:0007166 biolink:NamedThing ataxia with fasciculations tmpte7i6ely_mondo_relaxed.owl ataxia with fasciculations MESH:C566246|OMIM:108700|UMLS:C1862440 owl:Class MONDO:0007479 biolink:NamedThing dwarfism, Levi type tmpte7i6ely_mondo_relaxed.owl dwarfism, Levi type|dwarfism Levi type|snub-nosed type of dwarfism|dwarfism Levi's type GARD:0006294|MESH:C565081|UMLS:C1851994|OMIM:127100 https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type owl:Class MONDO:0018064 biolink:NamedThing trigonocephaly-broad thumbs syndrome Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl Hunter-Rudd-Hoffmann syndrome|Hunter Rudd Hoffmann syndrome GARD:0002756|ICD10:Q87.0|Orphanet:3365|SCTID:719949001 owl:Class MONDO:0019772 biolink:NamedThing blepharospasm-oromandibular dystonia syndrome Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. tmpte7i6ely_mondo_relaxed.owl Meige's syndrome|Meige syndrome|oral facial dystonia|Meige dystonia|blepharospasm - oromandibular dystonia|blepharospasm-oromandibular dystonia|Brueghel syndrome|segmental cranial dystonia|idiopathic blepharospasm-oromandibular dystonia syndrome DOID:3982|SCTID:230325003|MESH:D008538|ICD10:G24.8|GARD:0007008|Orphanet:93964 owl:Class MONDO:0007383 biolink:NamedThing Stern-Lubinsky-Durrie syndrome Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. tmpte7i6ely_mondo_relaxed.owl Cdo syndrome|corneal dystrophy, epithelial, with skin and skeletal changes|CORNEODERMATOOSSEOUS syndrome|corneal dystrophy epithelial and short stature|Stern Lubinsky Durrie syndrome|corneo-dermato-osseous syndrome ICD10:H18.5|OMIM:122440|SCTID:723584003|MESH:C537488|GARD:0001531|Orphanet:3194 owl:Class MONDO:0020462 biolink:NamedThing tarsal kink syndrome Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery. tmpte7i6ely_mondo_relaxed.owl UMLS:CN207325|Orphanet:99170 owl:Class MONDO:0030480 biolink:NamedThing hearing loss, autosomal recessive 119 tmpte7i6ely_mondo_relaxed.owl deafness, autosomal recessive 119|DFNB119 OMIM:619615 owl:Class MONDO:0017490 biolink:NamedThing tibial hemimelia, unilateral tmpte7i6ely_mondo_relaxed.owl tibial longitudinal meromelia, unilateral UMLS:CN203228|Orphanet:295077|ICD10:Q72.5 owl:Class MONDO:0010144 biolink:NamedThing tibial hemimelia Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. tmpte7i6ely_mondo_relaxed.owl tibial longitudinal meromelia|congenital aplasia and dysplasia of the tibia with intact fibula|congenital longitudinal deficiency of the tibia|absence of tibia|tibial hemimelia|congenital absence of tibia|Thm|bilateral absence of the tibia|tibia, absence of GARD:0008707|OMIM:275220|MESH:C535563|ICD10:Q72.5|SCTID:79177001|Orphanet:93322 owl:Class CHEBI:73913 biolink:NamedThing antifolate An antimetabolite that impairs the action of folic acids tmpte7i6ely_mondo_relaxed.owl folic acid antagonists|folic acid antagonist|antifolates owl:Class GO:0016812 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011848 biolink:NamedThing headache associated with sexual activity tmpte7i6ely_mondo_relaxed.owl HSA|benign sexual headache|headache associated with sexual activity OMIM:607504|ICD10:G44.82 owl:Class MONDO:0010274 biolink:NamedThing testicular germ cell tumor 1 tmpte7i6ely_mondo_relaxed.owl TGCT1|testicular germ cell tumor 1 UMLS:C1846164|MESH:C564559|OMIM:300228 owl:Class MONDO:0003705 biolink:NamedThing adult brainstem mixed glioma tmpte7i6ely_mondo_relaxed.owl adult brainstem mixed glioma|adult brain stem mixed glioma NCIT:C9371|UMLS:C1377915|DOID:5921 owl:Class MONDO:0011483 biolink:NamedThing polycystic bone disease tmpte7i6ely_mondo_relaxed.owl polycystic bone disease|Pcbd GARD:0008571|MESH:C536324|UMLS:C1858143|OMIM:604771 https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease owl:Class MONDO:0007133 biolink:NamedThing anonychia-onychodystrophy with brachydactyly type b and ectrodactyly tmpte7i6ely_mondo_relaxed.owl autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly|Kumar-Levick syndrome|anonychia-onychodystrophy with brachydactyly type b and ectrodactyly UMLS:C1862842|OMIM:106990|GARD:0000711|Orphanet:2355|MESH:C536379 https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly owl:Class MONDO:0008078 biolink:NamedThing neurofibromatosis, familial spinal tmpte7i6ely_mondo_relaxed.owl Fsnf|neurofibromatosis, familial spinal Orphanet:636|DOID:0111253|OMIM:162210|UMLS:C1834235|MESH:C563523 owl:Class GO:0060082 biolink:NamedThing eye blink reflex The reflex process in which a mechanical stimulus applied to the eye elicits a response of the eyelid closing. tmpte7i6ely_mondo_relaxed.owl nictitating membrane reflex owl:Class MONDO:0002729 biolink:NamedThing rhabdoid tumor of the kidney A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. tmpte7i6ely_mondo_relaxed.owl rhabdoid tumor of the kidney (RTK)|malignant rhabdoid tumor of kidney|malignant rhabdoid tumor of the kidney|rhabdoid tumor of the kidney|rhabdoid neoplasm of kidney|renal rhabdoid tumor|rhabdoid neoplasm of the kidney|rhabdoid tumour of kidney|kidney rhabdoid cancer|kidney rhabdoid tumor|MRTK|renal rhabdoid neoplasm|rhabdoid tumour of the kidney UMLS:C0854917|NCIT:C8715|DOID:3674|EFO:1000512 owl:Class HP:0025132 biolink:NamedThing Abnormal circulating estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormal circulating oestrogen level|Abnormal estrogen level|Abnormal oestrogen level 2016-11-27 13:46:29+00:00 Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). HPO:probinson human_phenotype owl:Class MONDO:0006616 biolink:NamedThing toxicodendron dermatitis An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl contact dermatitis due to genus Toxicodendron|Rhus dermatitis UMLS:C0032342|DOID:3819|SCTID:410049000|ICD9:692.6|MESH:D011040|EFO:1000773 owl:Class MONDO:0015601 biolink:NamedThing X-linked intellectual disability, van Esch type X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. tmpte7i6ely_mondo_relaxed.owl mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type|VEODS|Van Esch-O'Driscoll syndrome ICD10:Q87.8|Orphanet:163976|OMIM:301030|SCTID:718914002|UMLS:CN226711 owl:Class MONDO:0017723 biolink:NamedThing Sandhoff disease, adult form A Sandhoff disease that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl adult GM2 gangliosidosis 0 variant|adult Sandhoff disease|Sandhoff disease of adults|Hexosaminidases A and B deficiency, adult form OMIM:268800|Orphanet:309169|UMLS:CN203619|ICD10:E75.0 owl:Class HGNC:17697 biolink:NamedThing SARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007840 biolink:NamedThing internal carotid artery, spontaneous dissection of tmpte7i6ely_mondo_relaxed.owl internal carotid artery, spontaneous dissection of OMIM:147820|UMLS:C1840073|MESH:C564125 owl:Class HP:0011996 biolink:NamedThing Elevated coagulation factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. tmpte7i6ely_mondo_relaxed.owl Elevated factor V activity|Plasma factor V elevated UMLS:C4021106 peter 2012-07-19T11:40:31Z human_phenotype owl:Class MONDO:0015555 biolink:NamedThing plaque-form urticaria pigmentosa tmpte7i6ely_mondo_relaxed.owl ICD10:Q82.2|Orphanet:158769 owl:Class MONDO:0032686 biolink:NamedThing spermatogenic failure 35 tmpte7i6ely_mondo_relaxed.owl SPERMATOGENIC FAILURE 35|SPGF35 OMIM:618341 owl:Class MONDO:0005470 biolink:NamedThing postprandial hypotension Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines. tmpte7i6ely_mondo_relaxed.owl EFO:0005253 owl:Class MONDO:0100021 biolink:NamedThing photosensitive occipital lobe epilepsy A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty. tmpte7i6ely_mondo_relaxed.owl 2018-06-22 22:48:33+00:00 owl:Class MONDO:0100457 biolink:NamedThing achalasia, familial esophageal An instance of achalsia that is caused by an inherited genomic modification in an individual. tmpte7i6ely_mondo_relaxed.owl achalasia, familial esophageal OMIM:200400|UMLS:C1860213 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4055 owl:Class MONDO:0032874 biolink:NamedThing ciliary dyskinesia, primary, 43 tmpte7i6ely_mondo_relaxed.owl Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 43|CILD43 OMIM:618699 owl:Class MONDO:0008414 biolink:NamedThing schizophrenia 1 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 5-related|schizophrenia 1 with or without an affective disorder|schizophrenia 1|SCZD1 OMIM:181510|DOID:0070077 owl:Class HGNC:10603 biolink:NamedThing SCO1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005724 biolink:NamedThing roof plate spinal cord region tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044632 biolink:NamedThing extracranial carotid artery aneurysm tmpte7i6ely_mondo_relaxed.owl Ecca|ECAA Orphanet:494424 owl:Class MONDO:0030015 biolink:NamedThing bone marrow failure syndrome 6 tmpte7i6ely_mondo_relaxed.owl bone marrow failure syndrome 6|BMFS6|BONE MARROW FAILURE SYNDROME 6 OMIM:618849 owl:Class MONDO:0005030 biolink:NamedThing fetal growth restriction A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. tmpte7i6ely_mondo_relaxed.owl fetal small for gestational Age|fetal Growth retardation|fetal SGA|fetus small for gestational Age|intrauterine Growth restriction|intrauterine Growth retardation|IUGR|fetal growth retardation ICD9:764.92|SCTID:22033007|ICD9:764.90|ICD9:764.94|ICD9:764.95|ICD9:764.91|ICD9:764.98|ICD9:764.97|EFO:0000495|ICD9:764.9|MESH:D005317|ICD9:764.93|ICD9:764.96|NCIT:C114875|NCIT:C80083|ICD9:764.99 Editor note: check if should be a disease owl:Class HGNC:13861 biolink:NamedThing LZTS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019367 biolink:NamedThing regional odontodysplasia Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues. tmpte7i6ely_mondo_relaxed.owl ghost teeth SCTID:66063001|MESH:D018126|ICD10:K00.4|Orphanet:83450 owl:Class CL:0007001 biolink:NamedThing skeletogenic cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). tmpte7i6ely_mondo_relaxed.owl scleroblast Needs logical definition. Should be capable_of skeletal system morphogenesis? or skeletal tissue development? needs to be added to GO. NOTES:a cell type of the early embryo (see also: mesenchymal cells) that will give rise to mineralized connective tissue. Scleroblasts can differentiate into osteoblasts (bone-forming cells), chondroblasts (cartilage-forming cells), odontoblasts (dentin-forming cells), ameloblasts (enamel-forming cells). The mesenchymal cells developing into osteoblasts and chondroblasts are derived from the mesoderm. Those developing into odontoblasts are neural crest cells. Those developing into ameloblasts are derived from the ectoderm. (http://www.copewithcytokines.de/cope.cgi?key=scleroblasts) haendel 2012-06-15T02:51:27Z cell owl:Class HGNC:9826 biolink:NamedThing RAD54L tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10805 biolink:NamedThing SGCA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020807 biolink:NamedThing ovarian sertoli-stromal cell tumor A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. tmpte7i6ely_mondo_relaxed.owl Ovarian Sertoli-Stromal Cell Tumor|Ovarian Sertoli-Stromal Tumor NCIT:C39966 owl:Class MONDO:0012653 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal dominant tmpte7i6ely_mondo_relaxed.owl persistent hyperplastic primary vitreous, autosomal dominant|PHPVAD UMLS:C1969784|OMIM:611308|Orphanet:91495 owl:Class HGNC:20197 biolink:NamedThing SLC35C1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013656 biolink:NamedThing intellectual disability, autosomal dominant 9 An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity. tmpte7i6ely_mondo_relaxed.owl KIF1A autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 9|mental retardation, autosomal dominant 9|autosomal dominant intellectual disability 9|MRD9|intellectual disability, autosomal dominant 9|autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|autosomal dominant mental retardation 9|intellectual disability, autosomal dominant type 9|autosomal dominant non-syndromic intellectual disability 9 UMLS:C3280283|NCIT:C133742|OMIM:614255|Orphanet:178469|DOID:0070039 owl:Class MONDO:0032832 biolink:NamedThing intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES|IDNADFS|Chromosome 12Q15 Deletion Syndrome OMIM:618608 owl:Class MONDO:0007088 biolink:NamedThing Alzheimer disease type 1 tmpte7i6ely_mondo_relaxed.owl Alzheimer disease|AD1|Alzheimer disease 1|early-onset familial form of Alzheimer disease|presenile and senile dementia|Alzheimer disease, early-onset, with cerebral amyloid angiopathy|Alzheimer disease, protection against|AD|Alzheimer disease, familial, 1 GARD:0009465|Orphanet:1020|DOID:0080348|UMLS:C2931257 https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1 owl:Class NCBITaxon:693660 biolink:NamedThing unclassified Primate lentivirus group tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0029140 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 18 tmpte7i6ely_mondo_relaxed.owl GPIBD18|glycosylphosphatidylinositol biosynthesis defect 18 OMIM:618143 owl:Class MONDO:0017096 biolink:NamedThing isolated focal cortical dysplasia type Ia tmpte7i6ely_mondo_relaxed.owl FCD type Ia ICD10:Q04.8|UMLS:CN202453|Orphanet:268973 owl:Class MONDO:0011263 biolink:NamedThing skeletal dysplasia and progressive central nervous system degeneration, lethal tmpte7i6ely_mondo_relaxed.owl skeletal dysplasia and progressive central nervous system degeneration, lethal OMIM:602613|UMLS:C1865117|MESH:C566514 owl:Class MONDO:0009159 biolink:NamedThing Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. tmpte7i6ely_mondo_relaxed.owl Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|Cardiac valvular form of Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form|cvEDS|Cardiac-valvular EDS|Cardiac-valvular Ehlers-Danlos syndrome|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, arthrochalasis type|EDSCV|EDS, cardiac valvular type|Ehlers-Danlos syndrome, CARDIAC valvular type GARD:0012613|ICD10:Q79.6|SCTID:720858001|OMIM:225320|Orphanet:230851|MESH:C536200 owl:Class HP:0000508 biolink:NamedThing Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). tmpte7i6ely_mondo_relaxed.owl Eye drop|Drooping upper eyelid|Blepharoptosis|Eyelid ptosis SNOMEDCT_US:11934000|UMLS:C0005745|MSH:D001763 human_phenotype owl:Class CHEBI:27024 biolink:NamedThing toluenes Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006826 biolink:NamedThing kwashiorkor A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl nutritional edema with dyspigmentation of skin and hair|nutritional oedema with dyspigmentation of skin and/or hair|Kwashiokor ICD9:260|MedDRA:10023504|MESH:D007732|EFO:1001009|SCTID:58262005|ICD10:E40|UMLS:C0022806|DOID:13579 owl:Class MONDO:0001438 biolink:NamedThing postinflammatory pulmonary fibrosis tmpte7i6ely_mondo_relaxed.owl postinflammatory pulmonary fibrosis|post-inflammatory pulmonary fibrosis ICD10:J84.10|UMLS:C0175999|ICD9:515|SCTID:266368002|DOID:12123 owl:Class HGNC:18305 biolink:NamedThing ATP6AP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007577 biolink:NamedThing esophageal ring, lower tmpte7i6ely_mondo_relaxed.owl esophageal ring, lower OMIM:133240|MESH:C562765|UMLS:C0341137|SCTID:235623002|ICD9:750.3 owl:Class ECTO:7000008 biolink:NamedThing exposure to clay A exposure event involving the interaction of an exposure receptor to clay. tmpte7i6ely_mondo_relaxed.owl clay exposure owl:Class HP:0100257 biolink:NamedThing Ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. tmpte7i6ely_mondo_relaxed.owl Lobster claw hand|Cleft hand SNOMEDCT_US:81208006|UMLS:C0265554|MSH:C574275|SNOMEDCT_US:13624003 Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. doelkens 2010-07-15T03:56:58Z human_phenotype owl:Class GO:0018549 biolink:NamedThing methanethiol oxidase activity Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide. tmpte7i6ely_mondo_relaxed.owl (MM)-oxidase activity|MT-oxidase activity|methyl mercaptan oxidase activity|methanethiol:oxygen oxidoreductase activity|methylmercaptan oxidase activity owl:Class MONDO:0016802 biolink:NamedThing mitochondrial protein import disorder tmpte7i6ely_mondo_relaxed.owl UMLS:CN227003|Orphanet:254834 owl:Class CHEBI:76764 biolink:NamedThing EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). tmpte7i6ely_mondo_relaxed.owl EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* inhibitors|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* inhibitor|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors owl:Class MONDO:0005826 biolink:NamedThing lipid pneumonia Pneumonia due to aspiration or inhalation of various oily or fatty substances. tmpte7i6ely_mondo_relaxed.owl lipoidpneumonitis|exogenous lipoid pneumonia|cholesterol pneumonia|pneumonia lipid|lipoid pneumonitis MESH:D011017|UMLS:C0032298|ICD10:J69.1|GARD:0006394|DOID:3241|EFO:0007345|SCTID:707449006 owl:Class MONDO:0004094 biolink:NamedThing multiple skull base meningioma Multiple meningiomas that affect the skull base. tmpte7i6ely_mondo_relaxed.owl multiple skull base meningiomas DOID:7054|NCIT:C5279|UMLS:C1334829 owl:Class MONDO:0007752 biolink:NamedThing hyperheparinemia tmpte7i6ely_mondo_relaxed.owl hyperheparinemia ICD9:286.5|MESH:C562723|OMIM:144050|SCTID:79674009|UMLS:C3203346 owl:Class HGNC:14024 biolink:NamedThing PRY tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012218 biolink:NamedThing dandy-walker malformation with occipital cephalocele, autosomal dominant tmpte7i6ely_mondo_relaxed.owl Dandy-Walker malformation with occipital cephalocele, autosomal dominant|ADDWOC UMLS:C2674987|MESH:C567185|OMIM:609222 owl:Class MONDO:0009890 biolink:NamedThing Gillessen-Kaesbach-Nishimura syndrome tmpte7i6ely_mondo_relaxed.owl Gillessen-Kaesbach-Nishimura syndrome|polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia|GIKANIS|polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia Orphanet:79328|OMIM:263210|MESH:C564881|UMLS:C1849762 owl:Class MONDO:0019644 biolink:NamedThing renal dysplasia, unilateral Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. tmpte7i6ely_mondo_relaxed.owl unilateral renal dysplasia ICD10:Q61.4|Orphanet:93172|HP:0008718 owl:Class HGNC:16501 biolink:NamedThing PDLIM4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008750 biolink:NamedThing microcephaly-albinism-digital anomalies syndrome Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. tmpte7i6ely_mondo_relaxed.owl albinism-microcephaly-digital anomalies syndrome|microcephaly-albinism-digital anomalies syndrome|Castro Gago-Pombo-Novo syndrome|albinism-microcephaly digital anomalies syndrome ICD10:Q87.8|OMIM:203340|UMLS:C1859910|GARD:0003604|MESH:C537322|SCTID:719377004|Orphanet:2513 https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome owl:Class MONDO:0030979 biolink:NamedThing endove syndrome, limb-brain type tmpte7i6ely_mondo_relaxed.owl ENDOVESLB|Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies OMIM:619218 owl:Class MONDO:0016564 biolink:NamedThing progressive supranuclear palsy-progressive non-fluent aphasia syndrome PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP. tmpte7i6ely_mondo_relaxed.owl progressive supranuclear palsy-apraxia of speech syndrome|PSP-PNFA|PSP-AOS UMLS:CN226962|Orphanet:240112|ICD10:G23.1 owl:Class MONDO:0004941 biolink:NamedThing eosinophilia-myalgia syndrome A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) tmpte7i6ely_mondo_relaxed.owl syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|EMS|severe muscle pain and abnormally high eosinophils|L-tryptophan induced EMS|eosinophilia myalgia syndrome MESH:D016603|GARD:0006345|DOID:998|SCTID:95416007|EFO:1001316|ICD9:710.5 https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome owl:Class MONDO:0042979 biolink:NamedThing hypokalemic periodic paralysis, type 1 tmpte7i6ely_mondo_relaxed.owl HOKPP1|hypokalemic periodic paralysis, type 1 Orphanet:681|UMLS:C3714580|OMIM:170400 owl:Class MONDO:0008834 biolink:NamedThing asthma, nasal polyps, and aspirin intolerance tmpte7i6ely_mondo_relaxed.owl asthma, aspirin-induced, susceptibility to|asthma and nasal polyps|Asa triad|asthma, nasal polyps, and aspirin intolerance OMIM:208550|DOID:0111579|UMLS:C1859648 owl:Class MONDO:0011747 biolink:NamedThing dyslexia, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl dyslexia, susceptibility to, 5|DYX5 OMIM:606896 owl:Class MONDO:0007979 biolink:NamedThing metachondromatosis Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. tmpte7i6ely_mondo_relaxed.owl METCDS|METACHONDROMATOSIS|metachondromatosis DOID:0111512|ICD10:Q78.4|MESH:C562938|UMLS:C0410530|GARD:0003560|Orphanet:2499|OMIM:156250|SCTID:205481009|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis owl:Class MONDO:0054801 biolink:NamedThing erythrocytosis, familial, 6 tmpte7i6ely_mondo_relaxed.owl ECYT6|polycythemia, Beta-globin type|erythrocytosis, FAMILIAL, 6|erythrocytosis, Beta-globin type DOID:0111632|OMIM:617980|UMLS:CN244941 owl:Class MONDO:0007828 biolink:NamedThing indifference to pain, congenital, autosomal dominant tmpte7i6ely_mondo_relaxed.owl Marsili syndrome|MARSILI syndrome|insensitivity to pain, congenital, autosomal dominant|MARSIS|indifference to pain, congenital, autosomal dominant|congenital analgesia, autosomal dominant UMLS:C1840219|MESH:C564128|OMIM:147430 owl:Class MONDO:0006553 biolink:NamedThing Fox-Fordyce disease Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. tmpte7i6ely_mondo_relaxed.owl Fox Fordyce disease|miliaria, apocrine|Fox-Fordyce disease|apocrine miliaria|Fox-Fordyce syndrome ICD9:705.82|GARD:0006462|EFO:1000703|SCTID:65038009|ICD10:L75.2|Wikipedia:Fox-Fordyce_disease|UMLS:C0016632|NCIT:C84716|DOID:1381|MESH:D005588 https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease owl:Class MONDO:0022462 biolink:NamedThing anophthalmia esophageal atresia cryptorchidism A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl GARD:0000716 https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism owl:Class MONDO:0032805 biolink:NamedThing hypopigmentation, organomegaly, and delayed myelination and development tmpte7i6ely_mondo_relaxed.owl HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT|HOD OMIM:618541 owl:Class NCBITaxon:1653 biolink:NamedThing Corynebacteriaceae tmpte7i6ely_mondo_relaxed.owl Coryneform bacteria PMID:30186281|GC_ID:11|PMID:27864136|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0019330 biolink:NamedThing pili gemini Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair. tmpte7i6ely_mondo_relaxed.owl pili multigemini Orphanet:79492|ICD9:704.8|MESH:C537188|ICD10:L67.8|SCTID:42829009 owl:Class MONDO:0016489 biolink:NamedThing delta-beta-thalassemia Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. tmpte7i6ely_mondo_relaxed.owl MedDRA:10012236|MESH:C562716|SCTID:16360009|ICD9:282.49|NCIT:C172823|Orphanet:231237|OMIM:141749|ICD10:D56.2 owl:Class MONDO:0011349 biolink:NamedThing osteoma of cranial vault, familial tmpte7i6ely_mondo_relaxed.owl osteoma of cranial vault, familial UMLS:C1863677|MESH:C566356|OMIM:603600 owl:Class MONDO:0005698 biolink:NamedThing cervical incompetence A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. tmpte7i6ely_mondo_relaxed.owl ICD10:N88.3|DOID:9681|NCIT:C50607|EFO:0007202|ICD9:654.50|SCTID:17382005|MESH:D002581|ICD9:622.5 owl:Class MONDO:0016395 biolink:NamedThing foveal hypoplasia-presenile cataract syndrome tmpte7i6ely_mondo_relaxed.owl O'Donnell-Pappas syndrome ICD10:H26.0|Orphanet:2253|OMIM:136520|MESH:C537858|UMLS:C2931644 owl:Class MAXO:0000002 biolink:NamedThing therapeutic procedure All manners of treatment, be they pharmaceuticals, invasive procedures, etc. to relieve illness and injury in attempts to bring the body back to its normal state. tmpte7i6ely_mondo_relaxed.owl clinical procedure|medical procedure|treatment owl:Class MAXO:0000001 biolink:NamedThing medical action A clinically prescribed procedure, therapy, intervention, or recommendation. tmpte7i6ely_mondo_relaxed.owl health care process owl:Class MONDO:0010548 biolink:NamedThing spinocerebellar ataxia, X-linked 2 tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia with extrapyramidal involvement, early-onset|spinocerebellar ataxia X-linked type 2|Scax2|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia, X-linked type 2|cerebellar ataxia with extrapyramidal involvement early-onset UMLS:C1844885|MESH:C537314|GARD:0009978|OMIM:302600 owl:Class MONDO:0004677 biolink:NamedThing tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. tmpte7i6ely_mondo_relaxed.owl microsporosis nigra|keratomycosis nigricans|infection by Cladosporium werneckii|Tinea palmaris nigra UMLS:C0152067|SCTID:183342005|ICD9:111.1|ICD10:B36.1|DOID:8912 owl:Class CHEBI:38323 biolink:NamedThing cholinergic drug Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons. tmpte7i6ely_mondo_relaxed.owl cholinomimetic|cholinergic agent|cholinergic drugs owl:Class MONDO:0001401 biolink:NamedThing female breast nipple and areola cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of nipple and areola of female breast|malignant neoplasm of nipple or areola of female breast ICD9:174.0|DOID:11889|SCTID:188147009|UMLS:C0024621 owl:Class MONDO:0044683 biolink:NamedThing limbic encephalitis with neurexin-3 antibodies tmpte7i6ely_mondo_relaxed.owl Orphanet:498700 owl:Class MONDO:0011793 biolink:NamedThing celiac disease, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl CELIAC5|celiac disease, susceptibility to, 5|gluten-sensitive enteropathy, susceptibility to, 5|GSES OMIM:607202 owl:Class MONDO:0002904 biolink:NamedThing echolalia A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. tmpte7i6ely_mondo_relaxed.owl echolalia|echolalia (disease) echolalia (disease) MESH:D004454|DOID:4188|HP:0010529|NCIT:C97166 owl:Class MONDO:0009988 biolink:NamedThing retinoschisis of fovea tmpte7i6ely_mondo_relaxed.owl familial foveal retinoschisis|foveal retinoschisis|retinoschisis of fovea OMIM:268080|UMLS:C1849397|GARD:0009143|MESH:C538369 https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea owl:Class MONDO:0030439 biolink:NamedThing spermatogenic failure 57 tmpte7i6ely_mondo_relaxed.owl SPGF57 OMIM:619528 owl:Class GO:1901607 biolink:NamedThing alpha-amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of an alpha-amino acid. tmpte7i6ely_mondo_relaxed.owl alpha-amino acid formation|alpha-amino acid biosynthesis|alpha-amino acid anabolism|alpha-amino acid synthesis owl:Class HGNC:4713 biolink:NamedThing H19 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008821 biolink:NamedThing arthrogryposis, distal, with intellectual disability and characteristic facies tmpte7i6ely_mondo_relaxed.owl arthrogryposis, distal, with intellectual disability and characteristic facies|arthrogryposis, distal, with mental retardation and characteristic facies OMIM:208081|MESH:C565940|UMLS:C1859723 owl:Class MONDO:0010424 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 4 tmpte7i6ely_mondo_relaxed.owl surfactant metabolism dysfunction, pulmonary, 4|SMDP4|Pap due to Csf2Ra deficiency|pulmonary alveolar proteinosis, congenital, 4|Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, type 4 UMLS:C2677877|OMIM:300770|MESH:C567461|Orphanet:264675 owl:Class MONDO:0016309 biolink:NamedThing Niemann-Pick disease type C, juvenile neurologic onset tmpte7i6ely_mondo_relaxed.owl Niemann-Pick disease type C, classic form UMLS:CN201115|Orphanet:216981|ICD10:E75.2 owl:Class MONDO:0012944 biolink:NamedThing chromosome 17P13.3, telomeric, duplication syndrome tmpte7i6ely_mondo_relaxed.owl split-hand/foot malformation with long bone deficiency 3|chromosome 17P13.3, telomeric, duplication syndrome Orphanet:3329|OMIM:612576|UMLS:C2675492|MESH:C567245 owl:Class MONDO:0004859 biolink:NamedThing hydrops of gallbladder tmpte7i6ely_mondo_relaxed.owl ICD10:K82.1|ICD9:575.3|SCTID:47312008|DOID:9717|UMLS:C0152445 owl:Class MONDO:0017901 biolink:NamedThing autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpte7i6ely_mondo_relaxed.owl autosomal recessive MSMD due to partial IFNgammaR1 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1 OMIM:209950|ICD10:D84.8|UMLS:CN203960|Orphanet:319569 owl:Class MONDO:0020423 biolink:NamedThing stenosis or atrophy of the coronary ostium tmpte7i6ely_mondo_relaxed.owl stenosis or atresia of the coronary ostium|coronary ostial stenosis or atresia Orphanet:99087|ICD10:Q24.5 owl:Class MONDO:0002896 biolink:NamedThing primary syphilis The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. tmpte7i6ely_mondo_relaxed.owl early symptomatic syphilis|early syphilis, symptomatic|symptomatic early syphilis DOID:4156|UMLS:C2931317|ICD9:091|UMLS:C0153139|MESH:C536772|SCTID:186846005|NCIT:C128412 owl:Class MONDO:0012195 biolink:NamedThing arthrogryposis-severe scoliosis syndrome Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. tmpte7i6ely_mondo_relaxed.owl distal arthrogryposis type 4|arthrogryposis, distal, type 4|arthrogryposis, distal, type 2D|DA4|arthrogryposis with Severe scoliosis|distal arthrogryposis type IID UMLS:C1836756|OMIM:609128|Orphanet:65720|SCTID:715575001|ICD10:Q68.8|MESH:C563791 owl:Class MONDO:0100389 biolink:NamedThing acute myeloid leukemia, Trisomy 8 Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.) tmpte7i6ely_mondo_relaxed.owl AML, tri8|AML, Trisomy 8 NCIT:C162775|NCIT:C36396 owl:Class HP:0011013 biolink:NamedThing Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4023599 An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. peter 2011-02-21T09:47:27Z human_phenotype owl:Class MONDO:0032863 biolink:NamedThing spermatogenic failure 41 tmpte7i6ely_mondo_relaxed.owl SPGF41|SPERMATOGENIC FAILURE 41 OMIM:618670 owl:Class NCBITaxon:721805 biolink:NamedThing Amygdaleae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011341 biolink:NamedThing microcephaly, facial abnormalities, micromelia, and intellectual disability tmpte7i6ely_mondo_relaxed.owl microcephaly, facial abnormalities, micromelia, and intellectual disability|microcephaly, facial abnormalities, micromelia, and mental retardation OMIM:603572|MESH:C566361|UMLS:C1863702 owl:Class MONDO:0009418 biolink:NamedThing hypogonadism with low-grade mental deficiency and microcephaly tmpte7i6ely_mondo_relaxed.owl hypogonadism with low-grade mental deficiency and microcephaly UMLS:C1855858|OMIM:241000|MESH:C565482 owl:Class FOODON:00001053 biolink:NamedThing fermented dairy food product tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:694014 biolink:NamedThing Avian coronavirus tmpte7i6ely_mondo_relaxed.owl ACoV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008090 biolink:NamedThing cyclic hematopoiesis A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. tmpte7i6ely_mondo_relaxed.owl CN|periodic neutropenia|neutropenia cyclic|cyclic agranulocytosis|dysplasia, myelocytic periodic|cyclical neutropenia|cyclic neutropenia|cyclic hematopoiesis|CH|neutropenia, periodic ICD9:288.02|DOID:5339|NCIT:C3820|ICD10:D70.4|SCTID:191347008|ICD10:D70|GARD:0006229|MESH:C536227|MedDRA:10053176|Orphanet:2686|OMIM:162800 owl:Class SO:0002122 biolink:NamedThing immunoglobulin_gene A germline immunoglobulin gene. tmpte7i6ely_mondo_relaxed.owl IG_genes|All_IG_genes owl:Class MONDO:0004276 biolink:NamedThing ceruminoma A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm. tmpte7i6ely_mondo_relaxed.owl ceruminous adenoma (morphologic abnormality)|ceruminous adenoma of external auditory canal|adenoma, ceruminous gland, benign|ceruminous adenoma of the external auditory canal|external auditory canal ceruminous adenoma|ceruminous adenoma NCIT:C6088|DOID:7549|UMLS:C0334352|UMLS:C1333488|SCTID:403945001|ICDO:8420/0 owl:Class HP:0010876 biolink:NamedThing Abnormal circulating protein concentration An abnormal level of a circulating protein in the blood. tmpte7i6ely_mondo_relaxed.owl Abnormality of circulating protein level|Blood protein disease|Abnormal circulating protein level|Serum protein abnormality UMLS:C4023679|UMLS:C4020763|UMLS:C4020764 peter 2010-09-07T01:51:12Z human_phenotype owl:Class MONDO:0001079 biolink:NamedThing pancreatic steatorrhea tmpte7i6ely_mondo_relaxed.owl pancreatic steatorrhoea DOID:10610|ICD9:579.4|UMLS:C0152166|ICD10:K90.3|SCTID:54576000 Editor note: consider obsoleting owl:Class MONDO:0100420 biolink:NamedThing acute myeloid leukemia, KIT gene mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.) tmpte7i6ely_mondo_relaxed.owl AML, c-KIT Gene Mutation|AML, C-KIT Mutation|AML, CD117 Gene Mutation|AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation|AML, CD117 Mutation|AML, KIT gene mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation NCIT:C39712 owl:Class NCBITaxon:11155 biolink:NamedThing Torovirus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694017 biolink:NamedThing Torovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004766 biolink:NamedThing status asthmaticus An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. tmpte7i6ely_mondo_relaxed.owl asthma with status asthmaticus|severe asthma attack ICD10:J46|NCIT:C122577|DOID:9362|SCTID:708090002|MESH:D013224|UMLS:C0038218|ICD9:493.91|EFO:0008590 owl:Class MONDO:0003075 biolink:NamedThing bilateral retinoblastoma Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. tmpte7i6ely_mondo_relaxed.owl DOID:4650|UMLS:C0854914|NCIT:C8713 owl:Class MONDO:0017701 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form tmpte7i6ely_mondo_relaxed.owl GSDIV, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|GSD type 4, adult neuromuscular form|glycogenosis type 4, adult neuromuscular form|GBE deficiency, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|glycogen storage disease type IV, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form Orphanet:308712|UMLS:CN203601|OMIM:232500|ICD10:E74.0 owl:Class MONDO:0007059 biolink:NamedThing acrorenal syndrome Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. tmpte7i6ely_mondo_relaxed.owl acrorenal syndrome SCTID:720458005|UMLS:CN206860|ICD10:Q87.2|OMIM:201310|UMLS:C0796290|OMIM:102520|MESH:C563159|Orphanet:971|DOID:0060347|UMLS:C3495490 owl:Class MONDO:0017536 biolink:NamedThing central polydactyly of fingers, bilateral tmpte7i6ely_mondo_relaxed.owl mesoaxial polydactyly of fingers, bilateral|mirror hand, bilateral Orphanet:295173|ICD10:Q69.0 owl:Class MONDO:0030042 biolink:NamedThing proteinuria, chronic benign tmpte7i6ely_mondo_relaxed.owl PROTEINURIA, CHRONIC BENIGN|proteinuria, chronic benign|PROCHOB OMIM:618884 owl:Class MONDO:0011611 biolink:NamedThing short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting tmpte7i6ely_mondo_relaxed.owl short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting UMLS:C1970039|OMIM:605856|MESH:C566989 owl:Class HGNC:29418 biolink:NamedThing FNIP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004261 biolink:NamedThing periductal breast myoepitheliosis A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts. tmpte7i6ely_mondo_relaxed.owl periductal breast myoepitheliosis NCIT:C40388|UMLS:C1518974|DOID:7520 owl:Class MONDO:0021655 biolink:NamedThing secondary catabolic mucinosis of skin tmpte7i6ely_mondo_relaxed.owl SCTID:402723003|UMLS:C1274173|ICD9:701.8 owl:Class MONDO:0001480 biolink:NamedThing malignant tumor of undescended testis tmpte7i6ely_mondo_relaxed.owl malignant tumor of retained testis|malignant neoplasm of retained testis|malignant neoplasm of undescended testis DOID:12276|ICD10:C62.0|SCTID:188219004|ICD9:186.0|UMLS:C0153595 owl:Class MONDO:0005640 biolink:NamedThing akinetic mutism A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) tmpte7i6ely_mondo_relaxed.owl Coma vigilans (finding)|Coma vigilans EFO:0007138|MESH:D000405|UMLS:C0001889|SCTID:53333005|DOID:4267 owl:Class MONDO:0006365 biolink:NamedThing Peutz-Jeghers polyp A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 tmpte7i6ely_mondo_relaxed.owl Peutz Jeghers polyp|Peutz-Jeghers polyp EFO:1000470|NCIT:C4733 owl:Class MONDO:0033569 biolink:NamedThing combined oxidative phosphorylation deficiency 49 tmpte7i6ely_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49|COXPD49 OMIM:619024 owl:Class HGNC:11118 biolink:NamedThing SMN2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010738 biolink:NamedThing spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. tmpte7i6ely_mondo_relaxed.owl spondylometaphyseal dysplasia X-linked|X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia, Richmond type|spondylometaphyseal dysplasia Richmond type OMIM:313420|MESH:C563124|GARD:0008343|Orphanet:168544|ICD10:Q77.8|UMLS:C0796172 owl:Class MONDO:0022405 biolink:NamedThing retinal ciliopathy due to mutation in nephronophthisis gene tmpte7i6ely_mondo_relaxed.owl Orphanet:156180 owl:Class MONDO:0018749 biolink:NamedThing hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. tmpte7i6ely_mondo_relaxed.owl HPFH-beta-thalassemia syndrome HGNC:3627|OMIM:613566|Orphanet:46532|OMIM:141749|ICD10:D56.4|HGNC:5153|UMLS:CN205122|OMIM:142470 owl:Class MONDO:0007066 biolink:NamedThing adenosine triphosphatase deficiency, anemia due to tmpte7i6ely_mondo_relaxed.owl adenosine triphosphatase deficiency, anemia due to|anemia due to adenosine triphosphatase deficiency|adenosine triphosphatase deficiency anemia Orphanet:1044|GARD:0000548|SCTID:725057008|OMIM:102800|MESH:C566311|UMLS:C1863225 https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency owl:Class MONDO:0020383 biolink:NamedThing fundus pulverulentus Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. tmpte7i6ely_mondo_relaxed.owl UMLS:CN207257|ICD10:H35.5|Orphanet:99004 owl:Class MONDO:0012954 biolink:NamedThing colorectal cancer, susceptibility to, 11 tmpte7i6ely_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 20P|CRCS11|colorectal cancer, susceptibility to, 11 OMIM:612592 owl:Class MONDO:0012693 biolink:NamedThing glycogen storage disease due to muscle and heart glycogen synthase deficiency A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. tmpte7i6ely_mondo_relaxed.owl glycogenosis due to muscle and heart glycogen synthase deficiency|muscle glycogen storage disease 0|muscle glycogen synthase deficiency|glycogenosis type 0b|GSD due to muscle and heart glycogen synthase deficiency|GSD0B|glycogen storage disease type 0b|glycogen storage disease due to glycogen synthase deficiency of heart|glycogen storage disease 0, muscle|GSD type 0b|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease type 0, muscle|GSD 0B GARD:0010760|SCTID:725027004|Orphanet:137625|UMLS:C1969054|OMIM:611556|ICD10:E74.0|MESH:C566917 owl:Class MONDO:0008405 biolink:NamedThing scapula, contour of vertebral border of tmpte7i6ely_mondo_relaxed.owl scapula, contour of vertebral border of 2022-04-01 OMIM:181300 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class UBERON:0002076 biolink:NamedThing cuticle of hair tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008618 biolink:NamedThing mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. tmpte7i6ely_mondo_relaxed.owl hypoplasia of ulna and fibula|Reinhardt-Pfeiffer mesomelic dysplasia|ulna and fibula, hypoplasia OF|mesomelic dysplasia Reinhardt-Pfeiffer type|Reinhardt-Pfeiffer syndrome|mesomelic dwarfism of hypoplastic ulna and fibula type MESH:C537349|GARD:0003555|ICD10:Q78.8|Orphanet:2634|SCTID:715472000|UMLS:C1860616|OMIM:191400 owl:Class MONDO:0009559 biolink:NamedThing mandibulofacial dysostosis with mental deficiency tmpte7i6ely_mondo_relaxed.owl mandibulofacial dysostosis with mental deficiency|mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with intellectual disability UMLS:C1855432|OMIM:248400|MESH:C565420 owl:Class MONDO:0007638 biolink:NamedThing fucosidase regulator tmpte7i6ely_mondo_relaxed.owl Alpha-L-fucosidase regulator|fucosidase regulator OMIM:136830 owl:Class UBERON:0008255 biolink:NamedThing right clavicle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019412 biolink:NamedThing dysspondyloenchondromatosis Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. tmpte7i6ely_mondo_relaxed.owl Orphanet:85198|ICD10:Q78.4|SCTID:722434004|UMLS:C4302548 owl:Class MONDO:0011050 biolink:NamedThing microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. tmpte7i6ely_mondo_relaxed.owl microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis|Ellis-Yale-Winter syndrome|Ellis Yale Winter syndrome|microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs GARD:0002098|MESH:C563341|OMIM:601355|Orphanet:2516|SCTID:719379001|ICD10:Q87.8 owl:Class MONDO:0009456 biolink:NamedThing Immunoerythromyeloid hypoplasia tmpte7i6ely_mondo_relaxed.owl Immunoerythromyeloid hypoplasia UMLS:CN074232|OMIM:242880|UMLS:C0272167 owl:Class GO:1990351 biolink:NamedThing transporter complex A protein complex facilitating transport of molecules (proteins, small molecules, nucleic acids) into, out of or within a cell, or between cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015811 biolink:NamedThing primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. tmpte7i6ely_mondo_relaxed.owl Berti lymphoma|primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma Orphanet:178528|ICD10:C84.4|SCTID:765136002 owl:Class CL:1000548 biolink:NamedThing kidney outer medulla collecting duct epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001062 cell owl:Class MONDO:0008402 biolink:NamedThing cleft palate-large ears-small head syndrome Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. tmpte7i6ely_mondo_relaxed.owl cleft palate, microcephaly, large ears, and short stature|Say-Barber-Hobbs syndrome|cleft palate large ears small head|Say Barber Hobbs syndrome|SAY syndrome OMIM:181180|UMLS:C1867023|GARD:0000162|MESH:C536621|SCTID:763130006|Orphanet:2013|ICD10:Q87.8 owl:Class MONDO:0008352 biolink:NamedThing pupillary membrane, persistence of tmpte7i6ely_mondo_relaxed.owl pupillary membrane, persistence of OMIM:178900|MESH:C562700 owl:Class PATO:0002011 biolink:NamedThing neoplastic A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. tmpte7i6ely_mondo_relaxed.owl tumorous owl:Class MONDO:0004544 biolink:NamedThing chordoid meningioma A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma. tmpte7i6ely_mondo_relaxed.owl chordoid meningioma|meningioma, chordoid|CHOM|meningioma, chordoid (morphologic abnormality) EFO:1000176|NCIT:C6908|DOID:8368|UMLS:C1370510|ONCOTREE:CHOM owl:Class MONDO:0019326 biolink:NamedThing phakomatosis cesiomarmorata tmpte7i6ely_mondo_relaxed.owl phakomatosis cesiomarmorata|phakomatosis pigmentovascularis type 5|phakomatosis caesiomarmorata UMLS:CN205985|Orphanet:79484|SCTID:703286006|ICD10:Q85.8|ICD9:759.6 owl:Class MONDO:0006953 biolink:NamedThing Rh isoimmunization The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. tmpte7i6ely_mondo_relaxed.owl Rh incompatibility affecting management of mother MedDRA:10039016|EFO:1001159|DOID:4175|NCIT:C113150|UMLS:C0035404|SCTID:44795003 owl:Class MONDO:0010244 biolink:NamedThing CGF1 tmpte7i6ely_mondo_relaxed.owl cognitive function 1, social|social cognition|CGF1 UMLS:C1848140|OMIM:300082 owl:Class MONDO:0015026 biolink:NamedThing cerebroretinal microangiopathy with calcifications and cysts 2 Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene. tmpte7i6ely_mondo_relaxed.owl cerebroretinal microangiopathy with calcifications and cysts 2|STN1 Coats plus syndrome|CRMCC2|cerebroretinal microangiopathy with calcifications and cysts type 2|Coats plus syndrome caused by mutation in STN1 OMIM:617341|UMLS:CN240513 owl:Class HGNC:4092 biolink:NamedThing GAD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011694 biolink:NamedThing spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 16|SCA15/16|SCA15|spinocerebellar ataxia 16 (formerly)|spinocerebellar ataxia type 15|spinocerebellar ataxia 15|spinocerebellar ataxia type 15/16|SCA16 (formerly)|spinocerebellar ataxia 16, formerly UMLS:C4274322|ICD10:G11.2|UMLS:C1847725|Orphanet:98769|MESH:C564685|OMIM:606658|GARD:0010477|DOID:0050965|SCTID:716724006 In orphanet, SCA16 is obsoleted in favor of 15/16 owl:Class MONDO:0010642 biolink:NamedThing Lesch-Nyhan phenotype with normal HGPRT tmpte7i6ely_mondo_relaxed.owl Lesch-Nyhan phenotype with normal HGPRT OMIM:308950|Orphanet:510 owl:Class MONDO:0060729 biolink:NamedThing protoporphyria, erythropoietic, 2 tmpte7i6ely_mondo_relaxed.owl EPP2|protoporphyria, erythropoietic, 2 UMLS:CN248523|OMIM:618015 owl:Class NCBITaxon:116706 biolink:NamedThing Heterotremata tmpte7i6ely_mondo_relaxed.owl Brachyrhyncha GC_ID:1 NCBITaxon:29963|NCBITaxon:6803|NCBITaxon:6773 ncbi_taxonomy owl:Class MONDO:0020556 biolink:NamedThing pleuropulmonary blastoma type 2 A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl type II pleuropulmonary blastoma ICD10:C34.2|ICD9:162.9|ICD10:C34.9|ICD10:C34.3|Orphanet:99934|UMLS:CN207458|ICD10:C34.8|ICD10:C34.1|NCIT:C45627|SCTID:707672001 owl:Class MONDO:0006630 biolink:NamedThing osteoarthritis, spine A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte). tmpte7i6ely_mondo_relaxed.owl MESH:D055013|SCTID:8847002|EFO:1000787 owl:Class MONDO:0010603 biolink:NamedThing hemophilia A with vascular abnormality tmpte7i6ely_mondo_relaxed.owl hemophilia A with vascular abnormality MESH:C564415|OMIM:306800|UMLS:C1844137 owl:Class MONDO:0009508 biolink:NamedThing Lambotte syndrome tmpte7i6ely_mondo_relaxed.owl Lambotte syndrome|microcephaly, holoprosencephaly, and intrauterine Growth retardation GARD:0008470|OMIM:245552|MESH:C537549|UMLS:C1855550 owl:Class HGNC:10672 biolink:NamedThing CXCL12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008307 biolink:NamedThing presenile dementia, Kraepelin type tmpte7i6ely_mondo_relaxed.owl catatonia of Kraepelin|Kraepelin disease|presenile dementia, Kraepelin type MESH:C535273|OMIM:176600|GARD:0010032|UMLS:C1867772 https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type owl:Class MONDO:0001440 biolink:NamedThing neurotrophic keratoconjunctivitis tmpte7i6ely_mondo_relaxed.owl ICD9:370.35|DOID:12125|UMLS:C0155084|ICD10:H16.23|SCTID:77080005 owl:Class MONDO:0008052 biolink:NamedThing myopathy with storage of glycoproteins and Glycosaminoglycans tmpte7i6ely_mondo_relaxed.owl myopathy with storage of glycoproteins and Glycosaminoglycans UMLS:C1834532|MESH:C563542|OMIM:160570 owl:Class MONDO:0016539 biolink:NamedThing atypical hypotonia-cystinuria syndrome A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). tmpte7i6ely_mondo_relaxed.owl atypical HCS Orphanet:238523|ICD10:E72.0|UMLS:CN201620|OMIM:606407 owl:Class MONDO:0024686 biolink:NamedThing tenosynovial giant cell tumor, diffuse type A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion. tmpte7i6ely_mondo_relaxed.owl diffuse giant cell neoplasm of tendon sheath|pigmented villonodular synovitis|diffuse tenosynovial giant cell neoplasm|diffuse giant cell tumor of the Tenosynovium|diffuse giant cell neoplasm of the Tenosynovium|diffuse giant cell tumor of tendon sheath|diffuse tenosynovial giant cell tumor|diffuse giant cell neoplasm of Tenosynovium|tenosynovial giant cell tumor, diffuse type|diffuse giant cell tumor of Tenosynovium|tenosynovial giant cell tumor diffuse type ONCOTREE:TGCT|ICDO:9251/0|NCIT:C3401 owl:Class HGNC:12519 biolink:NamedThing UCP3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019395 biolink:NamedThing Hinman syndrome Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. tmpte7i6ely_mondo_relaxed.owl HAS|non-neurogenic neurogenic bladder|Hinman-Allen syndrome|occult neuropathic bladder|HS ICD9:596.59|SCTID:429233001|UMLS:CN206094|ICD10:N32.8|Orphanet:84085|UMLS:C1997362 owl:Class MONDO:0054764 biolink:NamedThing neurodegeneration with brain iron accumulation 8 tmpte7i6ely_mondo_relaxed.owl neurodegeneration with brain iron accumulation 8|NBIA8 UMLS:CN895591|OMIM:617917 owl:Class MONDO:0008649 biolink:NamedThing venular insufficiency, systemic tmpte7i6ely_mondo_relaxed.owl venular insufficiency, systemic MESH:C566004|UMLS:C1860465|OMIM:192700 owl:Class MONDO:0030067 biolink:NamedThing treacher collins syndrome 4 tmpte7i6ely_mondo_relaxed.owl TREACHER COLLINS SYNDROME 4|treacher collins syndrome 4|TCS4 OMIM:618939 owl:Class MONDO:0400005 biolink:NamedThing refeeding syndrome Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally). tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0007559 biolink:NamedThing photoparoxysmal response 1 tmpte7i6ely_mondo_relaxed.owl PPR1|photoparoxysmal response 1|Ppr|Photoconvulsive reaction|photosensitivity|epilepsy, photogenic Orphanet:166409|OMIM:132100|UMLS:C1868677 owl:Class MONDO:0010047 biolink:NamedThing hereditary spastic paraplegia 5A Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. tmpte7i6ely_mondo_relaxed.owl CYP7B1 pure or complex autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia 5A|hereditary spastic paraplegia type 5A|pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|spastic paraplegia 5A, autosomal recessive|spastic paraplegia type 5A|autosomal recessive spastic paraplegia type 5A|spastic paraplegia 5A|autosomal recessive spastic paraplegia|SPG5A|spastic paraplegia type 5B, recessive UMLS:C2931357|DOID:0110810|OMIM:270800|UMLS:C1849115|GARD:0004926|ICD10:G11.4|SCTID:763373005|Orphanet:100986 OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. owl:Class BFO:0000006 biolink:NamedThing spatial region tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:10004 biolink:NamedThing RGS9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0042902 biolink:NamedThing Say-Carpenter syndrome tmpte7i6ely_mondo_relaxed.owl Say Carpenter syndrome|metaphyseal dysplasia hypertelorism hypospadias GARD:0000240 owl:Class MONDO:0007111 biolink:NamedThing aneurysm, intracranial berry type 1 tmpte7i6ely_mondo_relaxed.owl ANIB1|aneurysmal subarachnoid hemorrhage, familial|aneurysm, intracranial berry, 1 MESH:C566284|OMIM:105800|UMLS:C1862932 owl:Class MONDO:0010309 biolink:NamedThing intellectual disability, X-linked 42 tmpte7i6ely_mondo_relaxed.owl MRX42|mental retardation, X-linked 42|intellectual disability, X-linked 42 UMLS:C1845810|OMIM:300372|MESH:C564524 owl:Class MONDO:0017055 biolink:NamedThing mycophenolate mofetil embryopathy Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. tmpte7i6ely_mondo_relaxed.owl MMF embryopathy ICD10:Q86.8|UMLS:C4509879|Orphanet:268249|SCTID:723406000 owl:Class MONDO:0015690 biolink:NamedThing myeloid neoplasm associated with PDGFRB rearrangement A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. tmpte7i6ely_mondo_relaxed.owl myeloid neoplasms with PDGFRB rearrangement|myeloid neoplasms associated with PDGFRB rearrangement|myeloid/lymphoid neoplasm associated with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasms with PDGFRB rearrangement DOID:0080166|NCIT:C84276|ICDO:9966/3|ICD10:D47.1|Orphanet:168950|ONCOTREE:MLNPDGFRB|UMLS:C2827361|SCTID:724642009 owl:Class MONDO:0007945 biolink:NamedThing mannose 6-phosphate receptor recognition defect, Lebanese type tmpte7i6ely_mondo_relaxed.owl mannose 6-phosphate receptor recognition defect, Lebanese type|phosphodiester glycoside deficiency OMIM:154570|UMLS:C1835134|MESH:C563601 owl:Class GO:0016444 biolink:NamedThing somatic cell DNA recombination Recombination occurring within or between DNA molecules in somatic cells. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006570 biolink:NamedThing lichen disease A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin. tmpte7i6ely_mondo_relaxed.owl lichen|lichen condition DOID:8574|ICD9:697.9|UMLS:C0023643|EFO:1000724|SCTID:88996004|ICD9:697|ICD10:L28.0|ICD9:697.8 owl:Class MONDO:0013294 biolink:NamedThing atopic dermatitis 8 An atopic dermatitis associated with variation in the region 4q22.1. tmpte7i6ely_mondo_relaxed.owl ATOD8|dermatitis, Atopic, severity of|dermatitis, ATOPIC, 8|atopic dermatitis type 8 OMIM:613518|DOID:0110104|UMLS:C3150763 owl:Class MONDO:0020503 biolink:NamedThing resistance to thyrotropin-releasing hormone syndrome Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. tmpte7i6ely_mondo_relaxed.owl central hypothyroidism due to TRH receptor deficiency|TRH resistance syndrome Orphanet:99832|UMLS:CN207394|ICD10:E03.1|SCTID:725462002 owl:Class GO:0016684 biolink:NamedThing oxidoreductase activity, acting on peroxide as acceptor Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013006 biolink:NamedThing isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. tmpte7i6ely_mondo_relaxed.owl dwarfism of Sindh|isolated growth hormone deficiency, type IB|isolated growth hormone deficiency type 1B|IGHD1B|congenital isolated GH deficiency type IB|isolated Growth hormone deficiency, type 1B|IGHD IB|congenital IGHD type IB|congenital isolated growth hormone deficiency type IB|IGHD 1B Orphanet:631|UMLS:C2748571|GARD:0003919|OMIM:612781|ICD10:E23.0|MESH:C567564|DOID:0060874|Orphanet:231671 https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b owl:Class MONDO:0014009 biolink:NamedThing autosomal recessive congenital ichthyosis 7 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1. tmpte7i6ely_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 7|autosomal recessive congenital ichthyosis type 7|ARCI7 UMLS:C3554348|OMIM:615022|ICD10:Q80.2|DOID:0060716|Orphanet:79394 owl:Class HGNC:25396 biolink:NamedThing FREM2 tmpte7i6ely_mondo_relaxed.owl owl:Class CHEBI:33702 biolink:NamedThing polyatomic cation A cation consisting of more than one atom. tmpte7i6ely_mondo_relaxed.owl polyatomic cations owl:Class MONDO:0100160 biolink:NamedThing alcoholic ketoacidosis An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae. tmpte7i6ely_mondo_relaxed.owl alcoholic acidosis|alcoholic ketosis In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type. owl:Class MONDO:0002308 biolink:NamedThing giant papillary conjunctivitis Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. tmpte7i6ely_mondo_relaxed.owl GPC SCTID:231857004|UMLS:C0009769|GARD:0008445|ICD9:372.39|DOID:2457|NCIT:C34507 https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis owl:Class NCBITaxon:452563 biolink:NamedThing Cladosporiaceae tmpte7i6ely_mondo_relaxed.owl Davidiellaceae GC_ID:1|PMID:17486979 NCBITaxon:452564 ncbi_taxonomy owl:Class MONDO:0003041 biolink:NamedThing pediatric mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in children. tmpte7i6ely_mondo_relaxed.owl childhood mesenchymal chondrosarcoma|pediatric mesenchymal chondrosarcoma|mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of childhood NCIT:C27374|UMLS:C1332982|DOID:4546 owl:Class MONDO:0017636 biolink:NamedThing hemiparkinsonism-hemiatrophy syndrome Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. tmpte7i6ely_mondo_relaxed.owl Hp-HA syndrome ICD10:G20|Orphanet:306669|UMLS:CN203531 owl:Class MONDO:0054733 biolink:NamedThing spermatogenic failure 29 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 29|SPGF29 OMIM:618091 owl:Class MONDO:0019811 biolink:NamedThing tricuspid valve agenesis tmpte7i6ely_mondo_relaxed.owl congenital unguarded tricuspid orifice ICD10:Q22.4|Orphanet:95457 owl:Class MONDO:0013927 biolink:NamedThing peroxisome biogenesis disorder 3A (Zellweger) tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 3|PBD3A|peroxisome biogenesis disorder 3A (Zellweger) UMLS:C3553929|Orphanet:912|OMIM:614859|MESH:C566633|DOID:0080478|NCIT:C155752 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0008845 biolink:NamedThing atonic-astatic syndrome of Foerster tmpte7i6ely_mondo_relaxed.owl atonic-astatic syndrome of Foerster OMIM:209100|UMLS:C1859594|MESH:C565926 owl:Class MONDO:0007697 biolink:NamedThing hand clasping pattern tmpte7i6ely_mondo_relaxed.owl hand clasping pattern OMIM:139800 owl:Class MONDO:0012242 biolink:NamedThing syncope, familial vasovagal tmpte7i6ely_mondo_relaxed.owl VVS|syncope, familial VASOVAGAL|familial vasovagal syncope|syncope familial neurocardiogenic|syncope, familial Neurocardiogenic|familial neurocardiogenic syncope OMIM:609289|GARD:0009502|UMLS:C1836438|MESH:C536849 owl:Class MONDO:0009296 biolink:NamedThing glycoprotein storage disease tmpte7i6ely_mondo_relaxed.owl glycoprotein storage disorder|glycoprotein storage disease SCTID:7810004|UMLS:C0268220|OMIM:232900|MESH:C565538|UMLS:C1856275 owl:Class MONDO:0021935 biolink:NamedThing aspergillus niger infection A infectious disease involving the Aspergillus niger. tmpte7i6ely_mondo_relaxed.owl Aspergillus niger infection|Aspergillus niger infection, pulmonary|infections, Aspergillus niger MESH:C535390|GARD:0009716 https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection owl:Class MONDO:0003905 biolink:NamedThing ovarian yolk sac tumor, glandular pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. tmpte7i6ely_mondo_relaxed.owl glandular pattern ovarian yolk sac tumor|ovarian yolk Sac tumor, glandular pattern UMLS:C1518747|DOID:6511|NCIT:C39988 owl:Class MONDO:0018426 biolink:NamedThing AXIN2-related attenuated familial adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl AXIN2-related AFAP|AXIN2-related attenuated FAP|AXIN2-related attenuated familial polyposis coli UMLS:CN226139|ICD10:D12.6|Orphanet:401911 owl:Class MONDO:0022573 biolink:NamedThing biliary atresia intrahepatic non syndromic form tmpte7i6ely_mondo_relaxed.owl GARD:0000887 https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form owl:Class HGNC:15506 biolink:NamedThing TSEN34 tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0000656 biolink:NamedThing stRNA_encoding A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development. tmpte7i6ely_mondo_relaxed.owl stRNA encoding owl:Class HGNC:9460 biolink:NamedThing PROZ tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009457 biolink:NamedThing immunoglobulin d level in plasma, low tmpte7i6ely_mondo_relaxed.owl IMMUNOGLOBULIN D level in plasma, LOW OMIM:242890 owl:Class MONDO:0015714 biolink:NamedThing secondary central precocious puberty tmpte7i6ely_mondo_relaxed.owl Orphanet:169618|UMLS:CN200226|ICD10:E22.8 owl:Class MONDO:0018877 biolink:NamedThing retinitis punctata albescens tmpte7i6ely_mondo_relaxed.owl UMLS:CN205224|ICD10:H35.5|SCTID:715562001|OMIM:136880|Orphanet:52427 owl:Class MONDO:0010667 biolink:NamedThing Prieto syndrome This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth. tmpte7i6ely_mondo_relaxed.owl Prieto-Badia-Mulas syndrome|X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|PRS|intellectual disability, X-linked, syndromic 2|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|MRXS2|Prieto X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic 2|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy|Prieto X-linked mental retardation syndrome Orphanet:2958|SCTID:719140001|GARD:0004482|OMIM:309610|NCIT:C18058|MESH:C535274|DOID:0060805 owl:Class MONDO:0016417 biolink:NamedThing congenital ichthyosis-microcephalus-tetraplegia syndrome tmpte7i6ely_mondo_relaxed.owl congenital ichthyosis-microcephalus-quadriplegia syndrome Orphanet:2271|ICD10:Q87.8 owl:Class MONDO:0009421 biolink:NamedThing hypogonadism, male tmpte7i6ely_mondo_relaxed.owl hypogonadism, male|hypogonadism and testicular atrophy SCTID:48723006|ICD9:257.2|OMIM:241100 Editor note: check OMIM owl:Class MONDO:0008802 biolink:NamedThing antithrombin, familial hemorrhagic diathesis due to tmpte7i6ely_mondo_relaxed.owl antithrombin, familial hemorrhagic diathesis due to UMLS:C1859761|OMIM:207300|MESH:C565947 owl:Class CL:0000829 biolink:NamedThing basophilic myeloblast A myeloblast committed to the basophil lineage. tmpte7i6ely_mondo_relaxed.owl cell owl:Class NCBITaxon:723 biolink:NamedThing Actinobacillus ureae tmpte7i6ely_mondo_relaxed.owl Pasteurella ureae|Pasterella haemolytica var. ureae GC_ID:11 ncbi_taxonomy owl:Class HGNC:15965 biolink:NamedThing DAZ3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019308 biolink:NamedThing junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina. tmpte7i6ely_mondo_relaxed.owl EBJ-I|JEB-I|inverse JEB GARD:0002143|UMLS:C2673610|OMIM:226650|ICD10:Q81.8|UMLS:C2673609|Orphanet:79405 owl:Class NCBITaxon:147571 biolink:NamedThing Piedraiaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0036482 biolink:NamedThing retinitis pigmentosa 81 tmpte7i6ely_mondo_relaxed.owl RP81|retinitis pigmentosa 81 UMLS:CN802781|DOID:0080292|OMIM:617871 owl:Class HGNC:13672 biolink:NamedThing KLF13 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0005980 biolink:NamedThing tick infestation Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. tmpte7i6ely_mondo_relaxed.owl Ixodoidea caused disease or disorder|Ixodoidea disease or disorder|Ixodoidea infectious disease DOID:4109|EFO:0007508|UMLS:C0040196|MESH:D013984 owl:Class HGNC:18124 biolink:NamedThing P2RY12 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008704 biolink:NamedThing short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. tmpte7i6ely_mondo_relaxed.owl achondroplasia and severe combined immunodeficiency|short limb skeletal dysplasia with SCID|immunodeficiency-short limb dwarfism syndrome|short-limb skeletal dysplasia with severe combined immunodeficiency|achondroplasia-severe combined immunodeficiency syndrome|achondroplasia and Swiss type agammaglobulinemia|achondroplasia and Swiss-type agammaglobulinemia|achondroplasia so-called and severe combined immunodeficiency|Slsd with SCID|achondroplasia-SCID syndrome|achondroplasia-Swiss type agammaglobulinemia syndrome|agammaglobulinemia and achondroplasia|achondroplasia, so-called, and severe combined immunodeficiency|SLSD with SCID GARD:0000463|Orphanet:935|GARD:0002988|MESH:C565984|UMLS:C1860168|OMIM:200900|ICD10:D82.2 https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency owl:Class MONDO:0010783 biolink:NamedThing Alzheimer disease, susceptibility to, mitochondrial tmpte7i6ely_mondo_relaxed.owl Alzheimer disease, susceptibility to, mitochondrial 2022-05-01 OMIM:502500 Reason: out of scope. Term to consider: Alzheimer disease' owl:Class MONDO:0005750 biolink:NamedThing ephemeral fever An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness. tmpte7i6ely_mondo_relaxed.owl UMLS:C0014481|MESH:D004810|EFO:0007258 owl:Class MONDO:0012993 biolink:NamedThing dyschromatosis universalis hereditaria 2 tmpte7i6ely_mondo_relaxed.owl DUH2|dyschromatosis universalis hereditaria 2 OMIM:612715|Orphanet:241|UMLS:C2675183|MESH:C567194 owl:Class MONDO:0015529 biolink:NamedThing paroxysmal Hemicrania Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy. tmpte7i6ely_mondo_relaxed.owl ICD9:339.03|GARD:0010794|EFO:1001822|MedDRA:10019461|ICD10:G44.0|SCTID:443094001|MESH:D051302|Orphanet:157835|UMLS:C1399352 https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania owl:Class NCBITaxon:2092 biolink:NamedThing Mycoplasmataceae tmpte7i6ely_mondo_relaxed.owl Parasitaceae|Borrelomycetaceae|Pleuropneumoniaceae PMID:13403276|PMID:16350067|GC_ID:4 ncbi_taxonomy owl:Class HGNC:905 biolink:NamedThing AXL tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013732 biolink:NamedThing glucocorticoid therapy, response to tmpte7i6ely_mondo_relaxed.owl GCTR|glucocorticoid therapy, response to OMIM:614400 owl:Class MONDO:0009886 biolink:NamedThing pleoconial myopathy with salt craving tmpte7i6ely_mondo_relaxed.owl pleoconial myopathy with salt craving UMLS:C1849773|MESH:C564883|OMIM:262900|GARD:0010318 https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving owl:Class MONDO:0009701 biolink:NamedThing myopathy, granulovacuolar lobular, with electrical myotonia tmpte7i6ely_mondo_relaxed.owl myopathy, granulovacuolar lobular, with electrical myotonia UMLS:C1850745|OMIM:254950|MESH:C564974 owl:Class HGNC:18540 biolink:NamedThing CPT1C tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11105 biolink:NamedThing SMARCC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009086 biolink:NamedThing deafness-small bowel diverticulosis-neuropathy syndrome Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). tmpte7i6ely_mondo_relaxed.owl nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy|deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome|Groll-Hirschowitz syndrome SCTID:733071009|OMIM:221400|Orphanet:3217|UMLS:C1857338|MESH:C537305|GARD:0002568 owl:Class MONDO:0007474 biolink:NamedThing duodenal ulcer due to antral G-cell hyperfunction tmpte7i6ely_mondo_relaxed.owl hypergastrinemic, hyperpepsinogenemic duodenal ulcer|duodenal ulcer due to antral G-cell hyperfunction UMLS:C1852009|GARD:0009743|OMIM:126840|MESH:C535721 https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction owl:Class MONDO:0016509 biolink:NamedThing microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome tmpte7i6ely_mondo_relaxed.owl MPPC syndrome|microcornea posterior megalolenticonus persistent fetal vasculature coloboma Orphanet:231736|GARD:0010938|ICD10:Q15.8|UMLS:CN201521 owl:Class MONDO:0030030 biolink:NamedThing Nizon-Isidor syndrome tmpte7i6ely_mondo_relaxed.owl NIZIDS|nizon-isidor syndrome|NIZON-ISIDOR SYNDROME OMIM:618872 owl:Class MONDO:0012135 biolink:NamedThing restless legs syndrome, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl RLS2|restless legs syndrome, susceptibility to, 2 UMLS:C1837285|GARD:0009710|OMIM:608831 owl:Class MONDO:0033566 biolink:NamedThing combined oxidative phosphorylation deficiency 48 tmpte7i6ely_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48|COXPD48 OMIM:619012 owl:Class MONDO:0020544 biolink:NamedThing streptococcal toxic-shock syndrome Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. tmpte7i6ely_mondo_relaxed.owl Streptococcus caused toxic shock syndrome|streptococcal TSS|Streptococcus toxic shock syndrome SCTID:240451000|UMLS:C0343532|MedDRA:10044251|ICD10:A48.3|Orphanet:99918 owl:Class MONDO:0016176 biolink:NamedThing axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:209004|ICD10:G61.8 owl:Class NCBITaxon:30727 biolink:NamedThing Cyprinoidei tmpte7i6ely_mondo_relaxed.owl Cyprinoidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002068 biolink:NamedThing female breast lower-inner quadrant cancer tmpte7i6ely_mondo_relaxed.owl malignant neoplasm of lower-inner quadrant of female breast ICD10:C50.3|DOID:1649|UMLS:C0153551|ICD9:174.3|ICD10:C50.31|SCTID:188153009 owl:Class MONDO:0032927 biolink:NamedThing triokinase and FMN cyclase deficiency syndrome tmpte7i6ely_mondo_relaxed.owl TKFCD|TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME OMIM:618805 owl:Class MONDO:0002963 biolink:NamedThing acantholytic acanthoma A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis. tmpte7i6ely_mondo_relaxed.owl acantholytic acanthoma UMLS:C1301270|DOID:4324|NCIT:C27517 owl:Class MONDO:0007067 biolink:NamedThing pyruvate kinase hyperactivity Autosomal dominant phenotype characterized by increase of red blood cell ATP. tmpte7i6ely_mondo_relaxed.owl adenosine triphosphate, elevated, of erythrocytes|pyruvate kinase hyperactivity EFO:0005840|UMLS:C1863224|MESH:C566310|OMIM:102900 owl:Class ENVO:03000110 biolink:NamedThing cryoform A geographic feature which is primarily composed of a continuous mass of snow and/or ice. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009907 biolink:NamedThing Prepapillary vascular loops tmpte7i6ely_mondo_relaxed.owl Prepapillary vascular loops|preretinal vascular loops MESH:C563287|OMIM:264060|SCTID:424728002 owl:Class MONDO:0007258 biolink:NamedThing canine teeth, absence of upper permanent tmpte7i6ely_mondo_relaxed.owl canine teeth, absence of upper permanent OMIM:114600|UMLS:C1861899 owl:Class MONDO:0009236 biolink:NamedThing Kandori fleck retina Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. tmpte7i6ely_mondo_relaxed.owl FLECK retina of KANDORI Orphanet:99179|ICD10:H35.5|SCTID:765191009|MESH:C562701|UMLS:C0271257|OMIM:228990 owl:Class CHEBI:25388 biolink:NamedThing monohydroxybenzoate A hydroxybenzoate carrying a single hydroxy substituent at unspecified position. tmpte7i6ely_mondo_relaxed.owl monohydroxybenzoates owl:Class MONDO:0018468 biolink:NamedThing proton-pump inhibitor-responsive esophageal eosinophilia Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy. tmpte7i6ely_mondo_relaxed.owl PPI-responsive esophageal eosinophilia|PPIRee|PPI-REE Orphanet:411696|ICD10:K20 owl:Class MONDO:0008623 biolink:NamedThing Undritz anomaly tmpte7i6ely_mondo_relaxed.owl hypersegmentation of nuclei of polymorphonuclear leukocytes|Undritz anomaly OMIM:191500|MESH:C566014|UMLS:C1860604 owl:Class MONDO:0001996 biolink:NamedThing steroid-induced glaucoma - borderline tmpte7i6ely_mondo_relaxed.owl borderline glaucoma steroid responder|steroid responders borderline glaucoma UMLS:C0339572|DOID:14548|SCTID:302895007|ICD9:365.03 owl:Class MONDO:0011768 biolink:NamedThing myasthenia gravis with thymus hyperplasia tmpte7i6ely_mondo_relaxed.owl myasthenia gravis with thymus hyperplasia|Myas1 Orphanet:589|OMIM:607085|MESH:C564628|UMLS:C1846838 owl:Class MONDO:0016548 biolink:NamedThing megacystis-megaureter syndrome Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. tmpte7i6ely_mondo_relaxed.owl megaureter-megacystis syndrome Orphanet:238637|SCTID:253904001|ICD10:Q62.7 owl:Class MONDO:0033613 biolink:NamedThing neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities tmpte7i6ely_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 1|cerebral palsy, spastic quadriplegic, type 1|CPSQ1|cerebral palsy spastic quadriplegic|NEDSWMA OMIM:603513|UMLS:C2751938|Orphanet:210141|MESH:C567853|OMIM:619026|GARD:0010447 https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic owl:Class MONDO:0010360 biolink:NamedThing parkinson disease 12 tmpte7i6ely_mondo_relaxed.owl Parkinson disease 12|Parkinson disease, X-linked|PARK12 UMLS:C1845165|Orphanet:2828|MESH:C564486|OMIM:300557 owl:Class MONDO:0009602 biolink:NamedThing metaphyseal modeling abnormality, skin lesions, and spastic paraplegia tmpte7i6ely_mondo_relaxed.owl metaphyseal modeling abnormality, skin lesions, and spastic paraplegia|Roy Maroteaux Kremp syndrome GARD:0000217|MESH:C535875|OMIM:250500|UMLS:C1855164 owl:Class MONDO:0016163 biolink:NamedThing autosomal dominant cerebellar ataxia type II tmpte7i6ely_mondo_relaxed.owl ADCAII|autosomal dominant cerebellar ataxia type II|autosomal dominant cerebellar ataxia type 2|ADCA2 Orphanet:208508|UMLS:CN229031 owl:Class MONDO:0017243 biolink:NamedThing bullous diffuse cutaneous mastocytosis Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. tmpte7i6ely_mondo_relaxed.owl bullous DCM ICD10:Q82.2|Orphanet:280785 owl:Class MONDO:0020816 biolink:NamedThing miliaria papulosa tmpte7i6ely_mondo_relaxed.owl SCTID:201192006 owl:Class MONDO:0015783 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.1|Orphanet:177901|UMLS:CN200365 owl:Class MONDO:0007553 biolink:NamedThing epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase UMLS:C1851570|MESH:C565049|OMIM:131880 owl:Class MONDO:0015532 biolink:NamedThing generalized eruptive histiocytosis tmpte7i6ely_mondo_relaxed.owl generalized eruptive histiocytoma Orphanet:157991|ICD10:D76.3|SCTID:110980006|UMLS:C0347404 owl:Class MONDO:0044622 biolink:NamedThing EMILIN-1-related connective tissue disease tmpte7i6ely_mondo_relaxed.owl Orphanet:485418 owl:Class HP:0002354 biolink:NamedThing Memory impairment An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. tmpte7i6ely_mondo_relaxed.owl Poor memory|Memory problems|Forgetfulness|Memory impairment|Memory loss SNOMEDCT_US:55533009|UMLS:C0233794|SNOMEDCT_US:386807006|UMLS:C0751295|UMLS:C0542476|MSH:D008569 Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. HP:0000747|HP:0002081 human_phenotype owl:Class MONDO:0013466 biolink:NamedThing orofacial cleft 13 tmpte7i6ely_mondo_relaxed.owl OFC13|orofacial cleft 13 OMIM:613857|DOID:0080406|UMLS:C3151222|Orphanet:1991 owl:Class MONDO:0032712 biolink:NamedThing combined oxidative phosphorylation deficiency 38 tmpte7i6ely_mondo_relaxed.owl COXPD38|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 OMIM:618378|DOID:0111466 owl:Class UBERON:0007522 biolink:NamedThing striated muscle sphincter tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019809 biolink:NamedThing congenital aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. tmpte7i6ely_mondo_relaxed.owl congenital insufficiency of aortic valve|congenital aortic insufficiency|Congential aortic valve insufficiency Orphanet:95449|MedDRA:10010370|NCIT:C103936|ICD9:746.4|UMLS:C0158617|SCTID:28656008|ICD10:Q23.1 owl:Class MONDO:0003968 biolink:NamedThing asynchronous multifocal osteogenic sarcoma A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas. tmpte7i6ely_mondo_relaxed.owl asynchronous multifocal osteosarcoma DOID:6697|UMLS:C1332342|NCIT:C6472 owl:Class HP:0011821 biolink:NamedThing Abnormality of facial skeleton An abnormality of one or more of the set of bones that make up the facial skeleton. tmpte7i6ely_mondo_relaxed.owl Abnormality of facial bones|Deformity of facial skeleton|Anomaly of facial bones|Deformity of the facial bones|Malformation of facial skeleton|Anomaly of facial skeleton|Abnormality of facial skeleton|Malformation of facial bones UMLS:C2315229|SNOMEDCT_US:433096001 The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. peter 2012-04-29T04:37:30Z human_phenotype owl:Class MONDO:0001753 biolink:NamedThing female infertility of uterine origin tmpte7i6ely_mondo_relaxed.owl infertility, female, of uterine origin SCTID:26899006|DOID:13589|ICD9:628.3|ICD10:N97.2 owl:Class MONDO:0002620 biolink:NamedThing localized osteosarcoma A non-disseminated osteosarcoma. tmpte7i6ely_mondo_relaxed.owl osteosarcoma, localized|localized osteosarcoma|localized osteogenic sarcoma DOID:3356|UMLS:C0278511|NCIT:C7780 owl:Class NCBITaxon:7953 biolink:NamedThing Cyprinidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013590 biolink:NamedThing Stickler syndrome, type 4 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive Stickler syndrome caused by mutation in COL9A1|STL4|COL9A1 autosomal recessive Stickler syndrome|STICKLER syndrome, type IV Orphanet:828|OMIM:614134|Orphanet:250984 owl:Class MONDO:0016526 biolink:NamedThing trisomy 9p Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. tmpte7i6ely_mondo_relaxed.owl Duplication 9p|trisomy of the short arm of chromosome 9|Duplication of the short arm of chromosome 9|trisomy type 9p ICD10:Q92.2|Orphanet:236|UMLS:C0265428 owl:Class MONDO:0030017 biolink:NamedThing combined oxidative phosphorylation deficiency 43 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 43|COXPD43|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 OMIM:618851 owl:Class MONDO:0015698 biolink:NamedThing transient hypogammaglobulinemia of infancy A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. tmpte7i6ely_mondo_relaxed.owl transient hypogammaglobulinemia of infancy|THI DOID:624|SCTID:88714009|UMLS:C0272238|MedDRA:10044388|NCIT:C27071|ICD10:D80.7|Orphanet:169139|ICD9:279.09 owl:Class UBERON:0013720 biolink:NamedThing dartos muscle of labia majora tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017149 biolink:NamedThing drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. tmpte7i6ely_mondo_relaxed.owl drug- or toxin-induced PAH EFO:0009192|UMLS:C0340544|Orphanet:275786|ICD10:I27.2 owl:Class MONDO:0012116 biolink:NamedThing spinocerebellar ataxia type 8 Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. tmpte7i6ely_mondo_relaxed.owl SCA8|spinocerebellar ataxia 8|spinocerebellar ataxia type 8 SCTID:715753001|OMIM:608768|ICD10:G11.2|UMLS:C1837454|Orphanet:98760|DOID:0050959|GARD:0004956|UMLS:C4275024 owl:Class MONDO:0021834 biolink:NamedThing Akaba Hayasaka syndrome A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. tmpte7i6ely_mondo_relaxed.owl frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia MESH:C535609|GARD:0000577|UMLS:C2930948 https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome owl:Class MONDO:0018815 biolink:NamedThing aneurysmal bone cyst A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage. tmpte7i6ely_mondo_relaxed.owl aneurysmal bone cysts|aneurysmal cyst of the bone|aneurysmal bone cyst (disease)|aneurysmal bone cyst|ABC|aneurysmal cyst of bone aneurysmal bone cyst (disease) NCIT:C3516|ICD9:733.22|GARD:0008646|OMIM:606179|HP:0012063|SCTID:203468000|Orphanet:480553 https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts owl:Class MONDO:0020382 biolink:NamedThing multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. tmpte7i6ely_mondo_relaxed.owl multifocal pattern dystrophy simulating Stargardt disease UMLS:CN207256|SCTID:723408004|Orphanet:99003|ICD10:H35.5 owl:Class MONDO:0011574 biolink:NamedThing tetralogy of fallot syndrome, autosomal recessive tmpte7i6ely_mondo_relaxed.owl tetralogy of fallot syndrome, autosomal recessive MESH:C565314|UMLS:C1854119|OMIM:605618 owl:Class MONDO:0004052 biolink:NamedThing rectal cloacogenic carcinoma A carcinoma that arises from the transitional zone at the junction of the rectum and anus. tmpte7i6ely_mondo_relaxed.owl transition zone carcinoma of the rectum|rectal cloacogenic carcinoma|rectal transitional zone carcinoma|transitional zone carcinoma of the rectum|cloacogenic carcinoma of the rectum|rectal transition zone carcinoma|transitional zone carcinoma of rectum|cloacogenic carcinoma of rectum|transition zone carcinoma of rectum DOID:6959|NCIT:C5555|UMLS:C1333074 owl:Class MONDO:0017677 biolink:NamedThing focal acral hyperkeratosis tmpte7i6ely_mondo_relaxed.owl punctate palmoplantar hyperkeratosis type 3 without elastoidosis|PPPK3 without elastoidosis|PPKP3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis Orphanet:308013|ICD10:Q82.8|UMLS:C1302839|SCTID:400115004 owl:Class MONDO:0100069 biolink:NamedThing hearing impairment and infertile male syndrome A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology. tmpte7i6ely_mondo_relaxed.owl hearing impairment and infertile male syndrome|HIIMS 2018-12-17 19:16:55+00:00 There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958). owl:Class MONDO:0019556 biolink:NamedThing pressure-induced localized lipoatrophy Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. tmpte7i6ely_mondo_relaxed.owl lipoatrophia semicircularis|semicircular lipoatrophy ICD10:E88.1|SCTID:238898001|Orphanet:90160|UMLS:CN227652 owl:Class MONDO:0008629 biolink:NamedThing urolithiasis, uric acid, autosomal dominant tmpte7i6ely_mondo_relaxed.owl urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant OMIM:191700|DOID:0080654 owl:Class CHEBI:46883 biolink:NamedThing carboxy group tmpte7i6ely_mondo_relaxed.owl CARBOXY GROUP|carboxy|-CO2H|-C(O)OH|-COOH|carboxyl group owl:Class MONDO:0024344 biolink:NamedThing pityriasis folliculorum tmpte7i6ely_mondo_relaxed.owl pityriasis folliculorum ICD9:696.5|UMLS:C0406312|SCTID:200993008 owl:Class MONDO:0007680 biolink:NamedThing multinodular goiter-cystic kidney-polydactyly syndrome Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. tmpte7i6ely_mondo_relaxed.owl multinodular goiter, cystic renal disease, and digital anomalies|thyroid-renal-digital anomalies|MNG/CRD/Da|multinodular goiter - cystic kidney - polydactyly|Daneman-Davy-Mancer syndrome|Daneman Davy Mancer syndrome|goiter, multinodular, cystic renal disease, and digital anomalies|multinodular goiter/cystic renal disease/digital anomalies OMIM:138790|ICD10:Q87.8|UMLS:C1841853|Orphanet:2091|GARD:0001671|MESH:C535986|SCTID:723409007 owl:Class UBERON:0005109 biolink:NamedThing metanephric smooth muscle tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004375 biolink:NamedThing end stage renal failure Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. tmpte7i6ely_mondo_relaxed.owl end stage renal disease|chronic kidney disease, stage 5|renal disease, end stage|end stage renal disease (ESRD)|disease (ESRD), end stage renal|end stage kidney failure|renal disease (ESRD), end stage|end stage kidney disease|ESRD|ESRD, end stage renal disease NCIT:C9439|DOID:783|ICD9:585.6|SCTID:46177005 owl:Class GO:0042030 biolink:NamedThing ATPase inhibitor activity Binds to and stops, prevents or reduces an ATP hydrolysis activity. tmpte7i6ely_mondo_relaxed.owl adenosinetriphosphatase inhibitor owl:Class HGNC:10961 biolink:NamedThing SLCO1B3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008644 biolink:NamedThing velocardiofacial syndrome A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. tmpte7i6ely_mondo_relaxed.owl Shprintzen Vcf syndrome|Vcf syndrome|VCF-velocardiofacial syndrome|deletion 22q11.2 syndrome|22q11 deletion syndrome|chromosome 22Q11.2 deletion syndrome|velocardiofacial syndrome|Shprintzen syndrome DOID:12583|MESH:D004062|ICD10:Q93.81|ICD9:758.32|Orphanet:567|OMIM:192430|UMLS:CN205308 owl:Class CHEBI:48975 biolink:NamedThing substituted aniline tmpte7i6ely_mondo_relaxed.owl substituted anilines owl:Class MONDO:0060779 biolink:NamedThing acquired Fanconi syndrome Fanconi Syndrome caused by exposure to noxious agents. tmpte7i6ely_mondo_relaxed.owl acquired Fanconi syndrome UMLS:C0341702|NCIT:C78296|SCTID:236467001 owl:Class ENVO:01000452 biolink:NamedThing environmental disposition A disposition which is realised by an environmental system or system parts thereof. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011724 biolink:NamedThing encephalopathy due to GLUT1 deficiency Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. tmpte7i6ely_mondo_relaxed.owl glucose transport defect, blood-brain barrier|glucose Transport defect, blood-brain barrier|GLUT1 deficiency syndrome 1|GLUT1DS1|glucose transporter type 1 deficiency|GLUT1-DS|GLUT1 deficiency syndrome type 1|G1D|GLUT1 DS|GLUT1 deficiency syndrome|glucose transporter Protein syndrome|glucose transporter protein syndrome|encephalopathy due to GLUT1 deficiency|glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|De Vivo disease|glucose transporter type1 (glut-1) deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|glucose transporter type 1 deficiency syndrome|glut-1 deficiency syndrome OMIM:606777|GARD:0009265|ICD10:G93.4|EFO:0009139|UMLS:C1847501|Orphanet:71277|UMLS:CN030711|MESH:C536830 https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome owl:Class MONDO:0030938 biolink:NamedThing spermatogenic failure 52 tmpte7i6ely_mondo_relaxed.owl SPGF52|spermatogenic failure 52 OMIM:619202 owl:Class IAO:8000008 biolink:NamedThing analysis subset ontology module An ontology module that is intended for usage in analysis or discovery applications. tmpte7i6ely_mondo_relaxed.owl analysis ontology module owl:Class MONDO:0024569 biolink:NamedThing optic atrophy 8 tmpte7i6ely_mondo_relaxed.owl optic atrophy 8|OPA8 UMLS:C4085249|OMIM:616648|Orphanet:1215|DOID:0111439 owl:Class MONDO:0003258 biolink:NamedThing hobnail hemangioma A hemangioma characterized by the presence of hobnail endothelial cells. tmpte7i6ely_mondo_relaxed.owl Targetoid Hemosiderotic hemangioma|hobnail hemangioma UMLS:C0346076|DOID:505|SCTID:254790003|NCIT:C27506 owl:Class MONDO:0032775 biolink:NamedThing neurodevelopmental disorder with seizures and speech and walking impairment tmpte7i6ely_mondo_relaxed.owl NEDSSWI|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM:618480 owl:Class HGNC:19747 biolink:NamedThing EVC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032892 biolink:NamedThing structural brain anomalies with impaired intellectual development and craniosynostosis tmpte7i6ely_mondo_relaxed.owl STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS|BAIDCS OMIM:618736 owl:Class MONDO:0032785 biolink:NamedThing polydactyly, postaxial, type a10 tmpte7i6ely_mondo_relaxed.owl PAPA10|POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM:618498 owl:Class MONDO:0004264 biolink:NamedThing acute gonococcal endometritis tmpte7i6ely_mondo_relaxed.owl acute gonorrhea of uterus|uterus - acute gonorrhoea|gonococcal endometritis (acute)|gonococcal endometritis SCTID:65295003|UMLS:C0341829|UMLS:C0153196|ICD9:098.16|DOID:7527 owl:Class MONDO:0001629 biolink:NamedThing Jaccoud syndrome tmpte7i6ely_mondo_relaxed.owl Jaccoud's syndrome|Jaccoud syndrome SCTID:84801008|ICD9:714.4|ICD10:M12.0|DOID:13080|ICD10:M12.00|UMLS:C0152084 owl:Class MONDO:0011306 biolink:NamedThing muscular dystrophy, congenital, with cerebellar atrophy tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, with cerebellar atrophy UMLS:C1864028|MESH:C566392|OMIM:603323 owl:Class MONDO:0018818 biolink:NamedThing facial diplegia with paresthesias tmpte7i6ely_mondo_relaxed.owl facial diplegia with paresthesias variant of Guillain-BarrC) syndrome|facial diplegia with paresthesias variant of Guillain-Barré syndrome|facial diplegia with paresthesias variant of GBS UMLS:CN776915|Orphanet:480701 owl:Class MONDO:0020762 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 2 tmpte7i6ely_mondo_relaxed.owl spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia|DMJDS2 OMIM:618646 owl:Class MONDO:0009985 biolink:NamedThing retinohepatoendocrinologic syndrome Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. tmpte7i6ely_mondo_relaxed.owl retinohepatoendocrinologic syndrome|rhe syndrome Orphanet:3087|OMIM:268040|SCTID:724000006|UMLS:C1849399|ICD10:Q87.8|MESH:C564839|GARD:0004685 https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome owl:Class CHEBI:33664 biolink:NamedThing monocyclic hydrocarbon tmpte7i6ely_mondo_relaxed.owl monocyclic hydrocarbons|monocyclic hydrocarbon owl:Class MONDO:0022712 biolink:NamedThing oculo digital syndrome tmpte7i6ely_mondo_relaxed.owl multiple ophthalmic anomalies and digital hypoplasia|Chemke Oliver Mallek syndrome|Chemke-Oliver-Mallek syndrome MESH:C535922|GARD:0004025|UMLS:C2931063 https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome owl:Class MONDO:0012214 biolink:NamedThing glucocorticoid deficiency 3 tmpte7i6ely_mondo_relaxed.owl glucocorticoid deficiency 3|GCCD3|glucocorticoid deficiency 2|familial glucocorticoid deficiency 3|glucocorticoid deficiency 2, formerly Orphanet:361|UMLS:C1836621|OMIM:609197 owl:Class MONDO:0013011 biolink:NamedThing atrial septal defect 5 Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. tmpte7i6ely_mondo_relaxed.owl ASD5|atrial septal defect 5|atrial heart septal defect caused by mutation in ACTC1|atrial heart septal defect type 5|ACTC1 atrial heart septal defect|atrial septal defect type 5 ICD10:Q21.1|Orphanet:1478|MESH:C567561|OMIM:612794|DOID:0110110|UMLS:C2748552 owl:Class MONDO:0005844 biolink:NamedThing chalazion An eyelid cyst caused by the blockage of a meibomian gland. tmpte7i6ely_mondo_relaxed.owl cyst, Meibomian|chalazia|chalazion|meibomian gland lipogranuloma|Meibomian cyst MESH:D017043|SCTID:1482004|NCIT:C26717|UMLS:C0007933|ICD10:H00.1|DOID:9903|ICD9:373.2|EFO:0007363 owl:Class MONDO:0008239 biolink:NamedThing phosphoglucomutase 4 tmpte7i6ely_mondo_relaxed.owl phosphoglucomutase 4|phosphoglucomutase type 4|milk PGM|Pgm4 OMIM:172110 owl:Class MONDO:0011542 biolink:NamedThing psoriasis 6, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS6|psoriasis 6, susceptibility to DOID:0111290|OMIM:605364 owl:Class GO:0051668 biolink:NamedThing localization within membrane Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane. tmpte7i6ely_mondo_relaxed.owl localisation within membrane|positioning within membrane|localization to membrane|establishment and maintenance of position in membrane|establishment and maintenance of localization in membrane owl:Class MONDO:0023551 biolink:NamedThing C1q nephropathy C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. tmpte7i6ely_mondo_relaxed.owl C1q nephropathy GARD:0012136|UMLS:C0403434|SCTID:236412002 owl:Class MONDO:0021654 biolink:NamedThing diffuse cutaneous mucinosis tmpte7i6ely_mondo_relaxed.owl ICD9:701.8|UMLS:C0406655|SCTID:238945000 owl:Class MONDO:0008817 biolink:NamedThing arterial calcification, generalized, of infancy, 1 An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications. tmpte7i6ely_mondo_relaxed.owl arterial calcification, idiopathic infantile|ENPP1 arterial calcification of infancy|arterial calcification, generalized, of infancy, 1|idiopathic infantile arterial calcification|coronary sclerosis, medial, of infancy|GACI1|generalized arterial calcification of infancy 1|arterial calcification of infancy caused by mutation in ENPP1|arteriopathy, occlusive infantile|arterial calcification, generalized, of infancy, type 1|Gaci NCIT:C128805|Orphanet:51608|OMIM:208000 owl:Class MONDO:0012961 biolink:NamedThing type 1 diabetes mellitus 23 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 23|insulin-dependent diabetes mellitus 23|IDDM23 DOID:0110760|MESH:C567233|UMLS:C2675472|OMIM:612622|ICD10:E10 owl:Class MONDO:0015785 biolink:NamedThing Prader-Willi syndrome due to translocation tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.1|UMLS:CN200367|Orphanet:177907 owl:Class MONDO:0009750 biolink:NamedThing neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive|Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive MESH:C564947|OMIM:256855|UMLS:C1850385 owl:Class MONDO:0002317 biolink:NamedThing central nervous system origin vertigo An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) tmpte7i6ely_mondo_relaxed.owl central vestibular vertigo|vertigo of central origin UMLS:C0155503|ICD10:H81.49|SCTID:38403006|DOID:2479|ICD10:H81.4|ICD9:386.2 owl:Class CL:0000080 biolink:NamedThing circulating cell A cell which moves among different tissues of the body, via blood, lymph, or other medium. tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0033123 biolink:NamedThing exudative vitreoretinopathy 7 tmpte7i6ely_mondo_relaxed.owl exudative vitreoretinopathy 7|EVR7 UMLS:CN321863|DOID:0080264|OMIM:617572|Orphanet:891 owl:Class MONDO:0019320 biolink:NamedThing acanthokeratolytic verrucous nevus tmpte7i6ely_mondo_relaxed.owl verrucous nevus acanthokeratolytic ICD10:Q82.5|Orphanet:79468|UMLS:CN205975|GARD:0005485 https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic owl:Class MONDO:0020856 biolink:NamedThing bone marrow failure syndrome 4 tmpte7i6ely_mondo_relaxed.owl BMFS4|BONE MARROW FAILURE SYNDROME 4 OMIM:618116 owl:Class MONDO:0003465 biolink:NamedThing fibrous synovial sarcoma tmpte7i6ely_mondo_relaxed.owl fibrous sarcoma of the synovium|fibrous sarcoma of synovium NCIT:C6533|DOID:5484|UMLS:C1333616 owl:Class MONDO:0018683 biolink:NamedThing acquired ichthyosis Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications. tmpte7i6ely_mondo_relaxed.owl fish scale disease, acquired|ichthyosis acquisita|acquired ichthyosis|ichthyosis, acquired|acquired ichthyosis (disease) ICD10:L85.0|GARD:0000476|NCIT:C112831|MESH:C538175|SCTID:8691004|Orphanet:454 https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired|https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0012397 biolink:NamedThing brachydactyly, coloboma, and anterior segment dysgenesis tmpte7i6ely_mondo_relaxed.owl brachydactyly, coloboma, and anterior segment dysgenesis MESH:C566484|OMIM:610023|UMLS:C1864901 owl:Class MONDO:0003906 biolink:NamedThing ovarian yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. tmpte7i6ely_mondo_relaxed.owl ovarian yolk Sac tumor, hepatoid pattern|hepatoid pattern ovarian yolk sac tumor DOID:6512|NCIT:C39989|UMLS:C1518748 owl:Class MONDO:0033670 biolink:NamedThing hearing loss, autosomal recessive 116 tmpte7i6ely_mondo_relaxed.owl DFNB116|deafness, autosomal recessive 116 OMIM:619093 owl:Class MONDO:0001859 biolink:NamedThing algoneurodystrophy tmpte7i6ely_mondo_relaxed.owl ICD10:M89.0|ICD9:733.7|DOID:14022|ICD10:M89.00 owl:Class MONDO:0010944 biolink:NamedThing mitochondrial import-stimulating factor tmpte7i6ely_mondo_relaxed.owl MSF|mitochondrial import-stimulating factor OMIM:600851 owl:Class MONDO:0004629 biolink:NamedThing subacute delirium tmpte7i6ely_mondo_relaxed.owl SCTID:191507002|DOID:8645|ICD9:293.1 owl:Class MONDO:0100315 biolink:NamedThing isolated adrenal insufficiency An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age. tmpte7i6ely_mondo_relaxed.owl isolated adrenal insufficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017498 biolink:NamedThing congenital absence of both forearm and hand, unilateral Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved. tmpte7i6ely_mondo_relaxed.owl radio-ulnar terminal transverse meromelia, unilateral Orphanet:295093|ICD10:Q71.2 owl:Class HGNC:1618 biolink:NamedThing CCT5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010546 biolink:NamedThing central incisors, absence of tmpte7i6ely_mondo_relaxed.owl central incisors, absence of OMIM:302400 owl:Class NCBITaxon:1884633 biolink:NamedThing Cryptococcaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:52564 biolink:NamedThing Oesophagostomum tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018337 biolink:NamedThing severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:397593|ICD10:E88.8|OMIM:615595 owl:Class MONDO:0011441 biolink:NamedThing complex regional pain syndrome type 1 Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. tmpte7i6ely_mondo_relaxed.owl reflex sympathetic dystrophy|reflex sympathetic dystrophy syndrome|RND|Algodystrophy|complex regional pain syndrome type 1|RSDS|CRPS1|Complex regional pain syndrome I|CRPS I|reflex neurovascular dystrophy MedDRA:10064334|Orphanet:99995|ICD9:337.21|ICD10:M89.0|DOID:1811|ICD9:337.2|ICD9:337.20|ICD10:G90.5|MedDRA:10038249|UMLS:C0034931|Orphanet:83452|NCIT:C85042|EFO:1001147|MESH:D012019|OMIM:604335|SCTID:50642008|ICD9:337.29|ICD9:733.7 owl:Class MONDO:0006326 biolink:NamedThing ocular melanoma with extraocular extension A melanoma arising from and extending beyond the structures of the eye. tmpte7i6ely_mondo_relaxed.owl extraocular extension of melanoma|extraocular extension melanoma|ocular melanoma with extraocular extension NCIT:C7913|EFO:1000404|UMLS:C0278869 owl:Class MONDO:0009438 biolink:NamedThing hypouricemia, hypercalcinuria, and decreased bone density tmpte7i6ely_mondo_relaxed.owl hypouricemia, hypercalcinuria, and decreased bone density Orphanet:94088|OMIM:242050|MESH:C565475|UMLS:C1855793 owl:Class MONDO:0010881 biolink:NamedThing mesomelia-synostoses syndrome A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. tmpte7i6ely_mondo_relaxed.owl mesomelic dysplasia, syndromic|mesomelia-synostoses syndrome|mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|chromosome 8Q13 deletion syndrome|mesomelia synostoses|8q13 microdeletion syndrome|Verloes-David syndrome|monosomy 8q13|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|Del(8)q(13)|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type ICD10:Q74.8|OMIM:600383|MESH:C537348|UMLS:C1838162|Orphanet:2496|GARD:0004302|SCTID:724147004 https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome owl:Class MONDO:0015176 biolink:NamedThing undetermined colitis Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. tmpte7i6ely_mondo_relaxed.owl Orphanet:103920|ICD10:K52.3 owl:Class MONDO:0032573 biolink:NamedThing bone marrow failure syndrome 5 tmpte7i6ely_mondo_relaxed.owl BMFS5|BONE MARROW FAILURE SYNDROME 5 OMIM:618165 owl:Class MONDO:0030311 biolink:NamedThing combined oxidative phosphorylation deficiency 52 tmpte7i6ely_mondo_relaxed.owl COXPD52|combined oxidative phosphorylation deficiency 52 OMIM:619386 owl:Class MONDO:0016622 biolink:NamedThing Melhem-Fahl syndrome Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. tmpte7i6ely_mondo_relaxed.owl fifteen dorsal vertebrae and rib pairs|Melhem Fahl syndrome GARD:0003462|Orphanet:2482|SCTID:732263008|MESH:C537238|UMLS:C2931453|ICD10:Q76.4 https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome owl:Class HGNC:26970 biolink:NamedThing COX20 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011256 biolink:NamedThing emphysema, congenital, with deafness, penoscrotal web, and intellectual disability tmpte7i6ely_mondo_relaxed.owl emphysema, congenital, with deafness, penoscrotal web, and mental retardation|emphysema, congenital, with deafness, penoscrotal web, and intellectual disability OMIM:602564|UMLS:C1865180|MESH:C566519 owl:Class MONDO:0010404 biolink:NamedThing X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. tmpte7i6ely_mondo_relaxed.owl SCAX5|spinocerebellar ataxia, X-linked 5|X-linked spinocerebellar ataxia type 5 Orphanet:314978|SCTID:766818009|MESH:C567478|ICD10:G11.0|UMLS:C2678048|OMIM:300703 owl:Class ECTO:4000034 biolink:NamedThing exposure to increased air temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of air. tmpte7i6ely_mondo_relaxed.owl exposure to increased amount in temperature of air owl:Class GO:0043436 biolink:NamedThing oxoacid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpte7i6ely_mondo_relaxed.owl oxoacid metabolism|keto acid metabolic process|oxo acid metabolism|ketoacid metabolic process|ketoacid metabolism|oxo acid metabolic process|keto acid metabolism owl:Class MONDO:0017822 biolink:NamedThing mixed functioning pituitary adenoma tmpte7i6ely_mondo_relaxed.owl mixed secreting pituitary adenoma UMLS:C0346305|SCTID:254961003|Orphanet:314759 owl:Class MONDO:0004369 biolink:NamedThing renal infectious disease tmpte7i6ely_mondo_relaxed.owl ICD10:N15.9|DOID:782|ICD9:590|ICD9:590.9 owl:Class MONDO:0009429 biolink:NamedThing hypophosphatemia, renal, with intracerebral calcifications tmpte7i6ely_mondo_relaxed.owl hypophosphatemia, renal, with intracerebral calcifications MESH:C565478|UMLS:C1855809|OMIM:241519 owl:Class MONDO:0001616 biolink:NamedThing lobomycosis A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. tmpte7i6ely_mondo_relaxed.owl cutaneous lobomycosis|cutaneous blastomycosis|infection by Loboa loboi MESH:D060368|UMLS:C0152066|ICD9:116.2|ICD10:B48.0|SCTID:47306003|EFO:1001805|DOID:13026 owl:Class MONDO:0029132 biolink:NamedThing Liddle syndrome 3 tmpte7i6ely_mondo_relaxed.owl LIDLS3|Liddle syndrome 3 OMIM:618126 owl:Class IAO:0000078 biolink:NamedThing curation status specification The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. tmpte7i6ely_mondo_relaxed.owl GROUP:OBI:|OBI_0000266 Better to represent curation as a process with parts and then relate labels to that process (in IAO meeting) curation status specification PERSON:Bill Bug owl:Class MONDO:0019529 biolink:NamedThing radiation myelitis A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation. tmpte7i6ely_mondo_relaxed.owl delayed radiation myelopathy|radiation myelopathy SCTID:26037005|ICD9:336.8|ICD10:G97.8|Orphanet:90021 owl:Class HGNC:4208 biolink:NamedThing GCSH tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000044 biolink:NamedThing brain microvascular endothelial cell Any microvascular endothelial cell that is part of a brain. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-07-09T00:24:53Z cell owl:Class MONDO:0054700 biolink:NamedThing proteasome-associated autoinflammatory syndrome 2 tmpte7i6ely_mondo_relaxed.owl PRAAS2|proteasome-associated autoinflammatory syndrome 2 UMLS:CN252342|OMIM:618048 owl:Class MONDO:0012042 biolink:NamedThing hirschsprung disease, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 8|HSCR8 OMIM:608462|Orphanet:388 owl:Class MONDO:0030063 biolink:NamedThing neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities tmpte7i6ely_mondo_relaxed.owl neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities|NEDSHBA|NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES OMIM:618922 owl:Class HGNC:6126 biolink:NamedThing IRS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019807 biolink:NamedThing mesocardia tmpte7i6ely_mondo_relaxed.owl mesocardia (disease)|mesocardia|Midline heart mesocardia (disease) HP:0011599|ICD10:Q24.8|SCTID:16567006|Orphanet:95443|ICD9:746.87 owl:Class MONDO:0020284 biolink:NamedThing heart position anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98716 owl:Class HGNC:7481 biolink:NamedThing MT-TF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002618 biolink:NamedThing undifferentiated high grade pleomorphic sarcoma of bone A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. tmpte7i6ely_mondo_relaxed.owl malignant bone fibrous histiocytoma|undifferentiated high-grade pleomorphic sarcoma|malignant fibrous histiocytoma of the bone|undifferentiated high grade pleomorphic sarcoma|malignant fibrous histiocytoma of bone|undifferentiated high grade pleomorphic sarcoma of bone NCIT:C8563|DOID:3352|UMLS:C0740479 owl:Class MONDO:0015235 biolink:NamedThing arachnodactyly-intellectual disability-dysmorphism syndrome Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients. tmpte7i6ely_mondo_relaxed.owl De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism Orphanet:1130|SCTID:720502000|UMLS:CN197590|ICD10:Q87.8|GARD:0000764 owl:Class HGNC:7794 biolink:NamedThing NFKB1 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1489841 biolink:NamedThing Zeiogadaria tmpte7i6ely_mondo_relaxed.owl Zeiogadiformes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489838 biolink:NamedThing Paracanthopterygii tmpte7i6ely_mondo_relaxed.owl Paracanthomorphacea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:119060 biolink:NamedThing Burkholderiaceae tmpte7i6ely_mondo_relaxed.owl Burkholderia group GC_ID:11|PMID:16403855 NCBITaxon:119063 ncbi_taxonomy owl:Class MONDO:0009944 biolink:NamedThing pyloric atresia tmpte7i6ely_mondo_relaxed.owl pyloric atresia OMIM:265950|SCTID:27729002|MESH:C562561|ICD9:750.7 owl:Class GO:0030705 biolink:NamedThing cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2508209 biolink:NamedThing Tobaniviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032698 biolink:NamedThing neurodevelopmental disorder with central and peripheral motor dysfunction tmpte7i6ely_mondo_relaxed.owl NEDCPMD|NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION OMIM:618356 owl:Class MONDO:0017809 biolink:NamedThing parkinsonism due to ATP13A2 deficiency tmpte7i6ely_mondo_relaxed.owl CLN12 disease Orphanet:314632|UMLS:CN203776|OMIM:606693|ICD10:E75.4 owl:Class MONDO:0019440 biolink:NamedThing wild type ABeta2M amyloidosis tmpte7i6ely_mondo_relaxed.owl DRA|dialysis-related arthropathy|wild type ABeta2-microglobulinic amyloidosis|amyloidosis dialysis-related|dialysis-related amyloidosis|amyloidosis beta2m|Beta-2-microglobulin amyloidosis|ABeta2Mwt amyloidosis Orphanet:85446|GARD:0010563|ICD10:E85.3|SCTID:32599008|UMLS:CN206197 https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m owl:Class CL:2000004 biolink:NamedThing pituitary gland cell Any cell that is part of a pituitary gland. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-03-26T22:14:56Z cell owl:Class MONDO:0049223 biolink:NamedThing osteogenesis imperfecta, type 19 tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, type XIX|OI19 OMIM:301014|UMLS:CN252653 owl:Class MONDO:0004145 biolink:NamedThing meningothelial meningioma A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. tmpte7i6ely_mondo_relaxed.owl meningothelial meningioma (morphologic abnormality)|Meningotheliomatous meningioma MESH:D008579|EFO:1000372|DOID:7212|UMLS:C0334605|ICDO:9531/0|NCIT:C4329 owl:Class HGNC:9277 biolink:NamedThing PPM1D tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032899 biolink:NamedThing neutropenia, severe congenital, 8, autosomal dominant tmpte7i6ely_mondo_relaxed.owl SCN8|Shwachman-Diamond Syndrome-Like|NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT|Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities OMIM:618752 owl:Class MONDO:0003265 biolink:NamedThing adjustment disorder A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present. tmpte7i6ely_mondo_relaxed.owl adjustment disorder|adaptation reaction|adjustment disease|disorder, adjustment|disorders, adjustment|adjustment reaction|disorders, reactive|disorder, reactive DOID:507|SCTID:17226007|ICD9:309.9|MESH:D000275|ICD9:309.89|ICD9:309|NCIT:C92191 owl:Class MONDO:0006631 biolink:NamedThing osteoarthritis, toe Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle. tmpte7i6ely_mondo_relaxed.owl EFO:1000788 owl:Class MONDO:0023227 biolink:NamedThing gestational diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. tmpte7i6ely_mondo_relaxed.owl diabetes insipidus gestational|Gestagenic diabetes insipidus UMLS:C2932666|GARD:0010702|MESH:C548014 https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus owl:Class ECTO:4000024 biolink:NamedThing exposure to increased air pressure A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air. tmpte7i6ely_mondo_relaxed.owl exposure to increased amount in pressure of air owl:Class MONDO:0040871 biolink:NamedThing psychogenic polydipsia A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders. tmpte7i6ely_mondo_relaxed.owl psychogenic polydipsia SCTID:15945005 owl:Class MONDO:0013469 biolink:NamedThing retinitis pigmentosa 38 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene. tmpte7i6ely_mondo_relaxed.owl RP38|retinitis pigmentosa caused by mutation in MERTK|retinitis pigmentosa 38|retinitis pigmentosa type 38|Rod-cone dystrophy, childhood-onset|MERTK retinitis pigmentosa OMIM:613862|UMLS:C3151228|DOID:0110367|ICD10:H35.5 owl:Class MONDO:0010866 biolink:NamedThing infantile osteopetrosis with neuroaxonal dysplasia This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. tmpte7i6ely_mondo_relaxed.owl osteopetrosis and infantile neuroaxonal dystrophy MESH:C536055|GARD:0010082|OMIM:600329|SCTID:724226009|OMIM:259720|UMLS:C1838258|ICD10:Q78.2|Orphanet:85179 owl:Class HP:0100658 biolink:NamedThing Cellulitis A bacterial infection and inflammation of the skin und subcutaneous tissues. tmpte7i6ely_mondo_relaxed.owl Bacterial infection of skin|Skin infection|Skin infections UMLS:C0162627|MSH:D017192|MSH:D002481|SNOMEDCT_US:128045006|UMLS:C0007642|SNOMEDCT_US:385627004|SNOMEDCT_US:128936008 In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. doelkens 2010-12-30T10:11:51Z HP:0003553 human_phenotype owl:Class MONDO:0018358 biolink:NamedThing neonatal autoimmune hemolytic anemia tmpte7i6ely_mondo_relaxed.owl neonatal AIHA|neonatal AHA ICD10:D59.1|Orphanet:398109 owl:Class HP:0003508 biolink:NamedThing Proportionate short stature A kind of short stature in which different regions of the body are shortened to a comparable extent. tmpte7i6ely_mondo_relaxed.owl Proportionate small stature|Short stature, proportionate UMLS:C0878660 HP:0003499 human_phenotype owl:Class MONDO:0032710 biolink:NamedThing developmental and epileptic encephalopathy, 72 tmpte7i6ely_mondo_relaxed.owl EIEE72|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72|DEE72|epileptic encephalopathy, early infantile, 72 OMIM:618374 owl:Class MONDO:0030331 biolink:NamedThing Ritscher-Schinzel syndrome 4 tmpte7i6ely_mondo_relaxed.owl RTSC4|Ritscher-Schinzel syndrome 4 OMIM:619435 owl:Class HGNC:4226 biolink:NamedThing GDI1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0027694 biolink:NamedThing amyotrophic lateral sclerosis type 23 tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis 23|ALS23 OMIM:617839|DOID:0080225|UMLS:CN778765 owl:Class MONDO:0010324 biolink:NamedThing intellectual disability, X-linked 81 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 81|intellectual disability, X-linked 81|MRX81 UMLS:C1845531|MESH:C564515|OMIM:300433 owl:Class MONDO:0011621 biolink:NamedThing acropectoral syndrome Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. tmpte7i6ely_mondo_relaxed.owl acro-pectoral syndrome|syndactyly, preaxial polydactyly, and sternal deformity|syndactyly-preaxial polydactyly-sternal deformity syndrome|acropectoral syndrome|Dundar Acropectoral syndrome|syndactyly, preaxial polydactyly and sternal deformity|ACRP syndrome|ACRPS SCTID:720412009|Orphanet:85203|OMIM:605967|MESH:C535664|UMLS:C1853812|GARD:0008485|ICD10:Q74.0 https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome owl:Class GO:0097205 biolink:NamedThing renal filtration A renal system process in which fluid circulating through the body is filtered through a barrier system. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007304 biolink:NamedThing cervical vertebral Bridge tmpte7i6ely_mondo_relaxed.owl cervical vertebral Bridge OMIM:118000 owl:Class MONDO:0006698 biolink:NamedThing cholecystolithiasis Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. tmpte7i6ely_mondo_relaxed.owl NCIT:C34443|DOID:11151|SCTID:235919008|UMLS:C0947622|MESH:D041761|EFO:1000864|MedDRA:10049890 owl:Class MONDO:0022599 biolink:NamedThing brachydactyly anonychia tmpte7i6ely_mondo_relaxed.owl GARD:0000962 https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia owl:Class MONDO:0017988 biolink:NamedThing multifocal atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. tmpte7i6ely_mondo_relaxed.owl chaotic atrial tachycardia|MAT|multifocal atrial tachycardia|multifocal atrial tachycardia (disease) multifocal atrial tachycardia (disease) ICD10:I47.1|HP:0011701|SCTID:49982000|Orphanet:3282|ICD9:427.89|GARD:0001235|UMLS:C0221158 owl:Class MONDO:0022851 biolink:NamedThing Dennis-Fairhurst-Moore syndrome A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpte7i6ely_mondo_relaxed.owl Hallermam Streiff like syndrome|Dennis Fairhurst Moore syndrome Orphanet:2109|OMIM:234100|GARD:0000290|MESH:C538210 https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome owl:Class MONDO:0011521 biolink:NamedThing inflammatory bowel disease 7 An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 7|IBD7|inflammatory bowel disease type 7 MESH:C565353|DOID:0110882|OMIM:605225|UMLS:C1854573 owl:Class MONDO:0032919 biolink:NamedThing intellectual developmental disorder 62 tmpte7i6ely_mondo_relaxed.owl MRD62|Mental Retardation, Autosomal Dominant 62|INTELLECTUAL DEVELOPMENTAL DISORDER 62 OMIM:618793 owl:Class HGNC:11365 biolink:NamedThing STAT4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030517 biolink:NamedThing trichothiodystrophy 8, nonphotosensitive tmpte7i6ely_mondo_relaxed.owl TTD8 OMIM:619691 owl:Class MONDO:0011347 biolink:NamedThing craniosynostosis with ectopia lentis tmpte7i6ely_mondo_relaxed.owl craniosynostosis with ectopia lentis OMIM:603595|MESH:C566357|UMLS:C1863678 owl:Class MONDO:0008431 biolink:NamedThing slipped femoral capital epiphyses A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip. tmpte7i6ely_mondo_relaxed.owl epiphysiolysis capitis femoris|slipped femoral capital epiphyses MESH:D060048|UMLS:C0149887|OMIM:182260 owl:Class GO:0004807 biolink:NamedThing triose-phosphate isomerase activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate. tmpte7i6ely_mondo_relaxed.owl triose phosphoisomerase activity|phosphotriose isomerase activity|triosephosphate isomerase activity|D-glyceraldehyde-3-phosphate ketol-isomerase activity|D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity|triose phosphate mutase activity|triosephosphate mutase activity owl:Class MONDO:0008628 biolink:NamedThing ureterocele A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. tmpte7i6ely_mondo_relaxed.owl ureterocele (disease)|ureterocele ureterocele (disease) ICD9:593.89|MESH:D014518|SCTID:12818004|HP:0000070|EFO:1001227|OMIM:191650|NCIT:C123159|MedDRA:10056433|DOID:4022 owl:Class MONDO:0017088 biolink:NamedThing isolated amyelia tmpte7i6ely_mondo_relaxed.owl ICD10:Q06.0|Orphanet:268868 owl:Class MONDO:0060631 biolink:NamedThing Alkuraya-Kucinskas syndrome tmpte7i6ely_mondo_relaxed.owl Alkuraya-Kucinskas syndrome|ALKKUCS UMLS:CN737163|DOID:0111555|OMIM:617822 owl:Class MONDO:0017477 biolink:NamedThing lower limb hypertrophy Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia. tmpte7i6ely_mondo_relaxed.owl ICD10:Q74.2|Orphanet:295051 owl:Class MONDO:0033562 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA|NEDDISH OMIM:619005 owl:Class MONDO:0032681 biolink:NamedThing encephalopathy, progressive, early-onset, with episodic rhabdomyolysis tmpte7i6ely_mondo_relaxed.owl ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS|PEERB OMIM:618331 owl:Class MONDO:0010550 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|CMTX 2|Charcot Marie Tooth disease X-linked recessive 2|Charcot-Marie-Tooth disease, X-linked recessive, 2|X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|CMTX2|Charcot-Marie-Tooth disease X-linked recessive type 2 DOID:0110208|ICD10:G60.0|UMLS:C1844873|GARD:0001243|Orphanet:101076|OMIM:302801|MESH:C535302|SCTID:763457000 owl:Class MONDO:0032932 biolink:NamedThing mitochondrial DNA depletion syndrome 18 tmpte7i6ely_mondo_relaxed.owl MTDPS18|MITOCHONDRIAL DNA DEPLETION SYNDROME 18 OMIM:618811 owl:Class NCBITaxon:11086 biolink:NamedThing Louping ill virus tmpte7i6ely_mondo_relaxed.owl LI GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004280 biolink:NamedThing asymmetric motor neuropathy tmpte7i6ely_mondo_relaxed.owl UMLS:C1332341|NCIT:C27953|DOID:7559 owl:Class MONDO:0003602 biolink:NamedThing intracranial liposarcoma A malignant adipose tissue neoplasm of the intracranial region. tmpte7i6ely_mondo_relaxed.owl UMLS:C1334242|NCIT:C6973|DOID:5714 owl:Class MONDO:0004937 biolink:NamedThing hypervitaminosis D tmpte7i6ely_mondo_relaxed.owl hypervitaminosis type D ICD9:278.4|SCTID:27712000|UMLS:C1442839|ICD10:E67.3|DOID:9971 owl:Class MONDO:0026727 biolink:NamedThing Shukla-Vernon syndrome tmpte7i6ely_mondo_relaxed.owl SHUKLA-VERNON SYNDROME|SHUVER OMIM:301029 owl:Class IAO:8000007 biolink:NamedThing curation subset ontology module A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation. tmpte7i6ely_mondo_relaxed.owl curation subset ontology module owl:Class MONDO:0003519 biolink:NamedThing malignant syringoma A malignant form of syringoma. tmpte7i6ely_mondo_relaxed.owl MAC|syringoma, malignant|microcystic adnexal carcinoma of skin|syringomatous carcinoma|microcystic adnexal carcinoma NCIT:C7581|SCTID:254712007|GARD:0010438|UMLS:C0346027|DOID:5569|ONCOTREE:MAC owl:Class MONDO:0008036 biolink:NamedThing myasthenia, limb-girdle, autoimmune tmpte7i6ely_mondo_relaxed.owl myasthenia gravis, limb-girdle|myasthenia, limb-girdle, autoimmune UMLS:C1834635|MESH:C563552|Orphanet:589|OMIM:159400|GARD:0008575 owl:Class MONDO:0011832 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 44 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. tmpte7i6ely_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 44|deafness, autosomal dominant 44|autosomal dominant deafness 44|deafness, autosomal dominant type 44|autosomal dominant nonsyndromic deafness type 44|DFNA44|CCDC50 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50 UMLS:C1843895|Orphanet:90635|DOID:0110569|OMIM:607453|MESH:C564399|ICD10:H90.3 owl:Class HGNC:16266 biolink:NamedThing SLC19A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003470 biolink:NamedThing cellular ependymoma An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl NCIT:C4713|DOID:5500|NCIT:C4714|MESH:D004806|UMLS:C1384403 owl:Class MONDO:0008589 biolink:NamedThing tremor of intention, ataxia, and lipofuscinosis tmpte7i6ely_mondo_relaxed.owl tremor of intention, ataxia, and lipofuscinosis MESH:C566038|OMIM:190200|UMLS:C1860872 owl:Class MONDO:0008064 biolink:NamedThing nasal bones, absence of tmpte7i6ely_mondo_relaxed.owl nasal bones, absence of MESH:C562753|UMLS:C4082198|OMIM:161480 owl:Class MONDO:0009286 biolink:NamedThing gluteal muscles, absence of tmpte7i6ely_mondo_relaxed.owl congenital absence of gluteal muscles|gluteal muscle, absence of|absence of gluteal muscle|gluteal muscles, absence of GARD:0008518|MESH:C535561|OMIM:231970 https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle owl:Class MONDO:0019327 biolink:NamedThing phakomatosis spilorosea tmpte7i6ely_mondo_relaxed.owl phakomatosis pigmentovascularis type 3 ICD10:Q85.8|UMLS:CN205986|ICD9:759.6|Orphanet:79485|SCTID:703285005 owl:Class MONDO:0044313 biolink:NamedThing intellectual disability, autosomal recessive 60 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 60|MRT60|intellectual disability, autosomal recessive 60 OMIM:617432 owl:Class HP:0025270 biolink:NamedThing Abnormality of esophagus physiology Any physiological abnormality of the esophagus. tmpte7i6ely_mondo_relaxed.owl Abnormality of oesophagus physiology|Functional abnormality of the oesophagus|Functional abnormality of the esophagus 2016-12-18 13:39:06+00:00 HPO:probinson human_phenotype owl:Class MONDO:0007084 biolink:NamedThing familial focal alopecia tmpte7i6ely_mondo_relaxed.owl alopecia, familial focal|ALPF UMLS:C1863092|MESH:C566301|OMIM:104110 owl:Class MONDO:0012955 biolink:NamedThing lung cancer susceptibility 4 tmpte7i6ely_mondo_relaxed.owl lung cancer susceptibility 4|LNCR4 OMIM:612593|UMLS:C2675479 owl:Class MONDO:0004453 biolink:NamedThing testicular yolk sac tumor, myxomatous pattern A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. tmpte7i6ely_mondo_relaxed.owl myxomatous pattern testicular yolk sac tumor|testicular yolk sac tumor, myxomatous pattern UMLS:C1515309|NCIT:C39929|DOID:8081 owl:Class MONDO:0012606 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl MTBS2|mycobacterium tuberculosis, susceptibility to, 2|Mycobacterium tuberculosis, susceptibility to, type 2 OMIM:611046 owl:Class HGNC:19185 biolink:NamedThing FRAS1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014930 biolink:NamedThing intellectual disability, autosomal recessive 56 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene. tmpte7i6ely_mondo_relaxed.owl MRT56|mental retardation, autosomal recessive type 56|mental retardation, autosomal recessive 56|intellectual disability, autosomal recessive type 56|intellectual disability, autosomal recessive 56|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|ZC3H14 autosomal recessive non-syndromic intellectual disability UMLS:C4310703|OMIM:617125 owl:Class MONDO:0043904 biolink:NamedThing leishmaniasis, diffuse cutaneous A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. tmpte7i6ely_mondo_relaxed.owl diffuse cutaneous leishmaniasis|cutaneous Leishmaniases, diffuse|lepromatous cutaneous leishmaniasis|cheloid leishmaniasis|Leishmaniases, diffuse cutaneous|diffuse cutaneous Leishmaniases|leproid leishmaniasis|cutaneous leishmaniasis, diffuse|dcl - diffuse cutaneous leishmaniasis SCTID:38573008|MESH:D016774 owl:Class MONDO:0032941 biolink:NamedThing myopia 27 tmpte7i6ely_mondo_relaxed.owl MYP27|MYOPIA 27 OMIM:618827 owl:Class HGNC:21497 biolink:NamedThing ACAD9 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:41165 biolink:NamedThing Schizopyrenida tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002965 biolink:NamedThing parovarian cyst A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). tmpte7i6ely_mondo_relaxed.owl Morgagni Hydatids|parovarian cysts|cysts, Paratubal|fimbrial cyst|cyst, Paratubal|Morgagni hydatid|Paratubal cyst|hydatid of Morgagni|parovarian cyst|cyst, fimbrial|cysts, parovarian|Morgagni hydatid cyst|Paratubal cysts|cyst, parovarian|embryonic fimbrial cyst|Morgagni hydatid cysts|hydatid cyst of Morgagni MESH:D010310|UMLS:C0030584|SCTID:64233004|ICD10:Q50.5|ICD10:Q50.4|DOID:4333 owl:Class GO:0099124 biolink:NamedThing axonal dopamine secretion The regulated release of dopamine from an axon. tmpte7i6ely_mondo_relaxed.owl axonal dopamine release|axonal DA release owl:Class MONDO:0017531 biolink:NamedThing postaxial polydactyly type A, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295163|ICD10:Q69.0|UMLS:CN203262 owl:Class MONDO:0010032 biolink:NamedThing Sjogren-Larsson-like ichthyosis without CNS or eye involvement tmpte7i6ely_mondo_relaxed.owl Sjogren-Larsson-like ichthyosis without CNS or eye involvement|Sjogren-Larsson-like syndrome|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement GARD:0004885|MESH:C536668|UMLS:C1849195|OMIM:270220 owl:Class MONDO:0006891 biolink:NamedThing partial motor epilepsy A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. tmpte7i6ely_mondo_relaxed.owl epilepsy, focal motor|focal motor seizure NCIT:C50847|SCTID:128612007|MESH:D020938|DOID:3327|ICD9:780.39|EFO:1001089 owl:Class MONDO:0015291 biolink:NamedThing stromal keratitis Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. tmpte7i6ely_mondo_relaxed.owl ICD10:H16.3|UMLS:C1318020|Orphanet:137599 owl:Class HGNC:7529 biolink:NamedThing MVD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008849 biolink:NamedThing atrophoderma vermiculata tmpte7i6ely_mondo_relaxed.owl atrophoderma vermiculata|folliculitis ulerythematosa reticulate|folliculitis ulerythematosa reticulata|ava|Atrophodermia reticulata|Atrophodermia vermiculata|Atrophodermia reticulata symmetrica faciei|honeycomb atrophy|atrophoderma vermiculatum|folliculitis ulerythematosa Orphanet:79100|ICD9:701.8|ICD10:L66.4|SCTID:2736005|OMIM:209700|OMIM:604093|GARD:0009744 https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata owl:Class MONDO:0017902 biolink:NamedThing autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpte7i6ely_mondo_relaxed.owl IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency Orphanet:319574|UMLS:CN203961|ICD10:D84.8|OMIM:614889 owl:Class MONDO:0030397 biolink:NamedThing portal hypertension, noncirrhotic, 2 tmpte7i6ely_mondo_relaxed.owl NCPH2 OMIM:619463 owl:Class MONDO:0012063 biolink:NamedThing ulnar/fibula ray defect-brachydactyly syndrome Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. tmpte7i6ely_mondo_relaxed.owl Morava-Mehes syndrome|ulnar/fibular RAY defect and brachydactyly ICD10:Q73.8|OMIM:608571|SCTID:719843001|MESH:C563905|Orphanet:52056 owl:Class FOODON:00001882 biolink:NamedThing fruit based alcoholic beverage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006163 biolink:NamedThing colorectal serrated adenocarcinoma A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. tmpte7i6ely_mondo_relaxed.owl colorectal serrated adenocarcinoma ICDO:8213/3|NCIT:C96485|UMLS:C3272809|EFO:1000196 owl:Class MONDO:0010349 biolink:NamedThing ovarian dysgenesis 2 Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene. tmpte7i6ely_mondo_relaxed.owl ovarian dysgenesis type 2|ovarian dysgenesis, hypergonadotropic, X-linked|ODG2|ovarian failure, hypergonadotropic, due to ovarian dysgenesis|BMP15 primary ovarian failure|ovarian dysgenesis 2|primary ovarian failure caused by mutation in BMP15|premature ovarian failure 4 OMIM:300510|MESH:C564499|UMLS:C1845294|Orphanet:243|DOID:0080494 owl:Class MONDO:0011453 biolink:NamedThing ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia tmpte7i6ely_mondo_relaxed.owl ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia UMLS:C1858422|OMIM:604380|MESH:C565783 owl:Class FOODON:00002244 biolink:NamedThing snail food product tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008606 biolink:NamedThing Say-field-Coldwell syndrome Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. tmpte7i6ely_mondo_relaxed.owl polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs and dislocation of patella|triphalangeal thumbs-dislocation of patella syndrome Orphanet:3133|OMIM:190650|GARD:0000242|MESH:C536619|UMLS:C1860805|ICD10:Q74.8 https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome owl:Class MONDO:0030903 biolink:NamedThing Hermansky-Pudlak syndrome 11 tmpte7i6ely_mondo_relaxed.owl Hermansky-Pudlak syndrome|HPS11 OMIM:619172 owl:Class MONDO:0013009 biolink:NamedThing Megarbane-Jalkh syndrome tmpte7i6ely_mondo_relaxed.owl developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure|developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure|Megarbane-Jalkh syndrome|Megarbane Jalkh syndrome OMIM:612785|MESH:C548071|UMLS:C2748555|GARD:0010689 https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome owl:Class MONDO:0001413 biolink:NamedThing ulceroglandular tularemia A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion. tmpte7i6ely_mondo_relaxed.owl DOID:11990|UMLS:C0152941|ICD10:A21.0|ICD9:021.0|SCTID:37722001 owl:Class MONDO:0012755 biolink:NamedThing episodic ataxia type 7 Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. tmpte7i6ely_mondo_relaxed.owl episodic ataxia, type 7|EA7 OMIM:611907|UMLS:C2677843|ICD10:G11.8|SCTID:718752007|MESH:C567459|DOID:0050995|Orphanet:209970 owl:Class MONDO:0019730 biolink:NamedThing light chain deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. tmpte7i6ely_mondo_relaxed.owl Light-chain deposition disease|Bence Jones myeloma|Light chain disease|LCDD|Light chain gammopathy UMLS:C0238239|SCTID:373604002|Orphanet:93558|GARD:0006906|NCIT:C7727|ICD10:D89.8 https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease owl:Class MONDO:0008416 biolink:NamedThing palmoplantar keratoderma-sclerodactyly syndrome tmpte7i6ely_mondo_relaxed.owl Scleroatrophic and keratotic dermatosis of limbs|atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles|SCLEROTYLOSIS|HURIEZ syndrome|palmoplantar hyperkeratosis-sclerodactyly syndrome|Sclerotylosis|Tys|Huriez syndrome|HRZ|Scleroatrophic syndrome MESH:C537526|ICD9:757.39|Orphanet:384|ICD10:Q82.8|GARD:0008517|SCTID:239076000|OMIM:181600 https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome owl:Class MONDO:0033370 biolink:NamedThing developmental and epileptic encephalopathy, 61 tmpte7i6ely_mondo_relaxed.owl EIEE61|DEE61|epileptic encephalopathy, early infantile, 61 OMIM:617933|UMLS:CN244550|DOID:0080434 owl:Class MONDO:0007210 biolink:NamedThing Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay tmpte7i6ely_mondo_relaxed.owl Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay OMIM:112370|MESH:C566206|UMLS:C1862171 owl:Class MONDO:0054850 biolink:NamedThing ovarian dysgenesis 6 tmpte7i6ely_mondo_relaxed.owl ovarian dysgenesis 6|ODG6 DOID:0080498|OMIM:618078 owl:Class NCBITaxon:9922 biolink:NamedThing Capra tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003318 biolink:NamedThing mixed cell type kidney Wilms' tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). tmpte7i6ely_mondo_relaxed.owl mixed cell type renal Wilm's tumor|Mixed cell type Wilms tumor|mixed cell type renal adenosarcoma|mixed cell type nephroblastoma|mixed cell type kidney adenosarcoma|mixed cell type renal Wilms' tumor|mixed cell type renal Wilms tumor|mixed cell type kidney Wilms tumor UMLS:C0279611|NCIT:C9149|DOID:5179 owl:Class HGNC:11936 biolink:NamedThing FASLG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016591 biolink:NamedThing sporadic adult-onset ataxia of unknown etiology Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. tmpte7i6ely_mondo_relaxed.owl SAOA|idiopathic late-onset cerebellar ataxia Orphanet:247234|SCTID:734023003 owl:Class MONDO:0008509 biolink:NamedThing distal symphalangism Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. tmpte7i6ely_mondo_relaxed.owl symphalangism, distal|distal symphalangism|Sym2|distal symphalangism (disease) distal symphalangism (disease) OMIM:185700|UMLS:C1861401|Orphanet:3248|ICD10:Q70.9|MESH:C566099|HP:0100263 owl:Class MONDO:0032868 biolink:NamedThing lessel-kubisch syndrome tmpte7i6ely_mondo_relaxed.owl LSKB|LESSEL-KUBISCH SYNDROME OMIM:618681 owl:Class HGNC:30788 biolink:NamedThing TLE6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044635 biolink:NamedThing diaph1-related sensorineural hearing loss-thrombocytopenia syndrome tmpte7i6ely_mondo_relaxed.owl DIAPH1-related sensorineural deafness-thrombocytopenia syndrome|diaph1-related sensorineural hearing loss-thrombocytopenia syndrome Orphanet:494444 owl:Class MONDO:0004503 biolink:NamedThing upper clivus meningioma A meningioma that affects the upper clivus. tmpte7i6ely_mondo_relaxed.owl meningioma of upper clivus|meningioma of the upper clivus UMLS:C1336871|DOID:8221|NCIT:C5290 owl:Class MONDO:0044719 biolink:NamedThing erythema multiforme major A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area. tmpte7i6ely_mondo_relaxed.owl erythema multiforme majus|erythema exsudativum multiforme majus NCIT:C3385|Orphanet:502499 owl:Class MONDO:0010855 biolink:NamedThing short tarsus-absence of lower eyelashes syndrome Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. tmpte7i6ely_mondo_relaxed.owl stale|Lopes-Gorlin syndrome|Lopes Gorlin syndrome|short tarsus absence of lower eyelashes|short tarsus with absence of LOWER eyelashes Orphanet:2832|UMLS:C1838328|GARD:0000296|MESH:C537036|OMIM:600269|SCTID:721075001|ICD10:Q87.2 owl:Class MONDO:0020853 biolink:NamedThing encephalitis/encephalopathy, mild, with reversible myelin vacuolization tmpte7i6ely_mondo_relaxed.owl Encephalitis/encephalopathy, mild, with reversible splenial lesion|MMERV|encephalitis/encephalopathy, mild, with reversible myelin vacuolization OMIM:618113 owl:Class MONDO:0010093 biolink:NamedThing syndesmodysplasic dwarfism tmpte7i6ely_mondo_relaxed.owl syndesmodysplasic dwarfism UMLS:C2931647|Orphanet:2654|MESH:C537869|OMIM:272450 owl:Class HGNC:7166 biolink:NamedThing MMP2 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9586 biolink:NamedThing PTCH2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013471 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 61 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 61|SLC26A5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 61|deafness, autosomal recessive 61|autosomal recessive deafness 61|autosomal recessive nonsyndromic deafness type 61|DFNB61|autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5 UMLS:C3151230|ICD10:H90.3|OMIM:613865|DOID:0110513 owl:Class MONDO:0007942 biolink:NamedThing Mammastatin tmpte7i6ely_mondo_relaxed.owl Mammastatin OMIM:154370 owl:Class UBERON:0013761 biolink:NamedThing cervical cavity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030266 biolink:NamedThing immunodeficiency 80 with or without congenital cardiomyopathy tmpte7i6ely_mondo_relaxed.owl immunodeficiency 80 with or without congenital cardiomyopathy|MCM10 deficiency|IMD80 OMIM:619313 owl:Class MONDO:0020476 biolink:NamedThing mesial temporal lobe epilepsy with hippocampal sclerosis Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. tmpte7i6ely_mondo_relaxed.owl MTLE-HS Orphanet:99701 owl:Class MONDO:0017769 biolink:NamedThing acquired immunodeficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:310050 owl:Class MONDO:0009298 biolink:NamedThing GOMBO syndrome tmpte7i6ely_mondo_relaxed.owl Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia|GOMBO syndrome UMLS:C1856274|GARD:0002537|OMIM:233270|MESH:C537284 owl:Class HGNC:11849 biolink:NamedThing TLR3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016454 biolink:NamedThing severe early-onset axonal neuropathy due to NEFL deficiency Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. tmpte7i6ely_mondo_relaxed.owl AR-CMT2B5|autosomal recessive Charcot-Marie-Tooth disease type 2B5|severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency Orphanet:228374|ICD10:G60.0 owl:Class MONDO:0007787 biolink:NamedThing Ambras type hypertrichosis universalis congenita Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. tmpte7i6ely_mondo_relaxed.owl congenital generalized hypertrichosis, Ambras type|Ambras syndrome|hypertrichosis, congenital generalized|hypertrichosis universalis congenita Ambras type|HTC1|HTC 1|hypertrichosis universalis congenita, Ambras type Orphanet:2222|Orphanet:1023|DOID:0111060|ICD10:Q84.2|OMIM:145701|GARD:0008206|UMLS:C1840362 owl:Class MONDO:0000948 biolink:NamedThing xerophthalmia Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. tmpte7i6ely_mondo_relaxed.owl conjunctival xerosis MESH:D014985|UMLS:C0043349|ICD9:375.15|DOID:10138|UMLS:C3665609|SCTID:46152009|ICD10:H04.12|ICD10:E50.7|SCTID:363677007|NCIT:C34503 owl:Class MONDO:0001845 biolink:NamedThing uterine corpus lipoleiomyoma A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. tmpte7i6ely_mondo_relaxed.owl uterine corpus lipomatous leiomyoma NCIT:C40168|EFO:1000614|DOID:13957|UMLS:C1519856 owl:Class NCBITaxon:451866 biolink:NamedThing Taphrinomycotina tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011749 biolink:NamedThing oculocutaneous albinism type 1B Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. tmpte7i6ely_mondo_relaxed.owl Yellow oculocutaneous albinism|Yellow albinism|albinism, oculocutaneous, type I, temperature-sensitive|oculocutaneous albinism, Amish type|OCA1B|oculocutaneous albinism, type 1B|platinum oculocutaneous albinism|Oca1-Ts|Yellow mutant albinism|albinism, oculocutaneous, type IB|oculocutaneous albinism type IB|albinism, oculocutaneous, type 1B|albinism, Yellow mutant type MESH:C537729|Orphanet:79434|DOID:0070095|UMLS:C1847024|UMLS:C1847132|Orphanet:352731|ICD10:E70.3|Orphanet:352737|OMIM:606952|GARD:0000594 https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b owl:Class MONDO:0004518 biolink:NamedThing anterior urethra cancer A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body. tmpte7i6ely_mondo_relaxed.owl anterior urethral malignant neoplasm|anterior urethra malignant tumor|anterior urethral cancer|malignant tumor of the anterior urethra|malignant neoplasm of the anterior urethra|malignant tumor of anterior urethra|anterior urethral malignant tumor|anterior urethra malignant neoplasm|malignant neoplasm of anterior urethra DOID:8272|NCIT:C7641|UMLS:C0279930 owl:Class MONDO:0012550 biolink:NamedThing iris pattern tmpte7i6ely_mondo_relaxed.owl iris pattern OMIM:610744|UMLS:C1853115 owl:Class MONDO:0019538 biolink:NamedThing Gaisbock syndrome Polycythemia that is caused by stress. tmpte7i6ely_mondo_relaxed.owl Gaisbock's syndrome|stress polycythemia|GaisböCK syndrome|Gaisboeck's syndrome|Pseudopolycythemia|polycythemia, emotional|Pseudopolycythaemia|stress erythrocytosis MedDRA:10042217|SCTID:36874002|UMLS:C0541719|UMLS:CN206365|DOID:2838|Orphanet:90041|MedDRA:10053885|GARD:0008402|NCIT:C27174|ICD10:D75.1|UMLS:C2242785 owl:Class MONDO:0030354 biolink:NamedThing facioscapulohumeral muscular dystrophy 3, digenic tmpte7i6ely_mondo_relaxed.owl facioscapulohumeral muscular dystrophy 3, digenic|FSHD3 OMIM:619477 owl:Class MONDO:0016100 biolink:NamedThing rippling muscle disease with myasthenia gravis tmpte7i6ely_mondo_relaxed.owl acquired rippling muscle disease|immune-mediated rippling muscle disease|Rmd-MG ICD10:G70.8|UMLS:CN200870|Orphanet:206575 owl:Class MONDO:0018777 biolink:NamedThing autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:CN776826|Orphanet:476119 owl:Class MONDO:0021105 biolink:NamedThing NAFLD1 tmpte7i6ely_mondo_relaxed.owl NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|liver disease, alcoholic, susceptibility to, 1 OMIM:613282 owl:Class MONDO:0025691 biolink:NamedThing dystonia 30 tmpte7i6ely_mondo_relaxed.owl DYT30 OMIM:619291 owl:Class MONDO:0015399 biolink:NamedThing glossopalatine ankylosis Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. tmpte7i6ely_mondo_relaxed.owl Cosack syndrome ICD10:Q38.3|UMLS:C4303569|UMLS:CN199497|Orphanet:141163|SCTID:717814004 owl:Class MONDO:0007130 biolink:NamedThing congenital total pulmonary venous return anomaly Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. tmpte7i6ely_mondo_relaxed.owl scimitar anomaly|TAPVR1|total anomalous pulmonary VENOUS return 1|total anomalous pulmonary venous return|pulmonary venolobar syndrome|anomalous pulmonary Venous return|scimitar syndrome|TAPVR DOID:4297|NCIT:C98585|MESH:D012587|Orphanet:99125|UMLS:C0036400|NCIT:C85056|ICD10:Q26.8|ICD9:747.41|SCTID:111323005|ICD10:Q26.2|OMIM:106700|EFO:1001167|SCTID:39905002 owl:Class MONDO:0100415 biolink:NamedThing acute myeloid leukemia, FLT3 internal tandem duplication Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.) tmpte7i6ely_mondo_relaxed.owl AML, FLT3 internal tandem duplication|AML, Activating FLT3-ITD Gene Mutation|AML, FLT3/ITD Mutation|AML, FLT3-ITD|AML, Activating FLT3-ITD Mutation|AML, FLT3 ITD|AML, FLT3-ITD Mutation|AML, FLT3-ITD Activating Mutation NCIT:C67494|NCIT:C126748 owl:Class MONDO:0010347 biolink:NamedThing intellectual disability, X-linked 84 tmpte7i6ely_mondo_relaxed.owl MRX84|mental retardation, X-linked 84|intellectual disability, X-linked 84 MESH:C564501|UMLS:C1845297|OMIM:300505 owl:Class MONDO:0007725 biolink:NamedThing hereditary progressive mucinous histiocytosis Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. tmpte7i6ely_mondo_relaxed.owl histiocytosis, progressive mucinous MESH:C564186|UMLS:C1840586|OMIM:142630|ICD10:D76.3|Orphanet:158025 owl:Class MONDO:0017519 biolink:NamedThing symbrachydactyly of hand and foot, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295136|UMLS:CN203252|ICD10:Q73.8 owl:Class MONDO:0015832 biolink:NamedThing true unicornuate uterus True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. tmpte7i6ely_mondo_relaxed.owl complete unilateral Mullerian aplasia|unicornuate uterus without rudimentary horn|complete unilateral Müllerian aplasia|complete unilateral aplasia of the Mullerian ducts|complete unilateral aplasia of the Müllerian ducts ICD10:Q51.4|Orphanet:180074 owl:Class MONDO:0001544 biolink:NamedThing tibial nerve palsy tmpte7i6ely_mondo_relaxed.owl ICD9:355.8|DOID:12529|SCTID:365258000|UMLS:C0154751 Editor note: todo owl:Class MONDO:0030463 biolink:NamedThing spermatogenic failure 58 tmpte7i6ely_mondo_relaxed.owl SPGF58 OMIM:619585 owl:Class MONDO:0004542 biolink:NamedThing cervical adenosquamous carcinoma, glassy cell variant A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. tmpte7i6ely_mondo_relaxed.owl glassy cell adenocarcinoma of the uterine cervix|cervical adenosquamous carcinoma, glassy cell variant|GCC of the cervix|glassy cell carcinoma of the cervix|glassy cell variant cervical adenosquamous carcinoma|glassy cell carcinoma of the cervix uteri ICD10:C53.8|GARD:0008437|Orphanet:213833|NCIT:C40212|ICD10:C53.0|ONCOTREE:CEGCC|ICD10:C53.1|DOID:8361|MESH:C536823 https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix owl:Class MONDO:0024376 biolink:NamedThing sleep disorder, initiating and maintaining sleep tmpte7i6ely_mondo_relaxed.owl disorders of initiating and maintaining sleep SCTID:194437008 owl:Class MONDO:0018592 biolink:NamedThing cutaneous polyarteritis nodosa Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl cutaneous periarteritis nodosa|cutaneous PAN ICD10:M30.0|UMLS:C0343190|SCTID:239926000|ICD9:709.8|Orphanet:439729|UMLS:CN242143|NCIT:C117295|GARD:0007415 https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa owl:Class MONDO:0007234 biolink:NamedThing branchial myoclonus with spastic paraparesis and cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl branchial myoclonus with spastic paraparesis and cerebellar ataxia MESH:C566188|OMIM:113610|UMLS:C1862071 owl:Class MONDO:0001569 biolink:NamedThing acoustic neuroma A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing. tmpte7i6ely_mondo_relaxed.owl acoustic tumor|acoustic neurinoma|neurinoma of the acoustic nerve|acoustic neurilemoma|vestibular schwannoma|neurilemoma, acoustic|vestibular schwannoma (disease)|acoustic neurilemmoma|neuroma, acoustic|acoustic schwannoma|vestibular neurilemmoma|acoustic neuroma vestibular schwannoma (disease) NCIT:C3276|DOID:12689|CSP:2012-6947|SCTID:126949007|MESH:D009464|MedDRA:10000523|Orphanet:252175|GARD:0000223|HP:0009588|ICD10:D33.3 owl:Class MONDO:0018553 biolink:NamedThing urachal diverticulum Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. tmpte7i6ely_mondo_relaxed.owl Vesicourachal diverticulum UMLS:CN237554|ICD10:Q64.4|NCIT:C123254|SCTID:253899000|Orphanet:431347 owl:Class MONDO:0006050 biolink:NamedThing pleomorphic breast carcinoma A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate. tmpte7i6ely_mondo_relaxed.owl anaplastic breast carcinoma NCIT:C5161|UMLS:C2211689|EFO:1000047|UMLS:C1514169 _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 owl:Class MONDO:0017087 biolink:NamedThing neurenteric cyst tmpte7i6ely_mondo_relaxed.owl Orphanet:268865 owl:Class MONDO:0016778 biolink:NamedThing iatrogenic botulism Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. tmpte7i6ely_mondo_relaxed.owl accidental botulism|inadvertent botulism Orphanet:254509|ICD10:A05.1|NCIT:C128345|UMLS:C4288922 owl:Class MONDO:0020324 biolink:NamedThing intravascular large B-cell lymphoma Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. tmpte7i6ely_mondo_relaxed.owl intravascular lymphomatosis|intravascular large B-cell lymphoma|angiotropic lymphoma|IVBCL|angiotropic large cell lymphoma|malignant angioendotheliomatosis|intravascular B-cell lymphoma|Tappeiner-Pfleger disease|angioendotheliomatosis proliferans systemisata MedDRA:10069643|ICD10:C83.3|SCTID:255102004|ICD9:202.80|UMLS:CN207146|NCIT:C4342|ONCOTREE:IVBCL|Orphanet:98839|ICDO:9712/3 owl:Class MONDO:0012875 biolink:NamedThing inflammatory bowel disease 21 An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease type 21|inflammatory bowel disease 21|IBD21 OMIM:612354|DOID:0110906|MESH:C567338|UMLS:C2676507 owl:Class MONDO:0030047 biolink:NamedThing microcephaly, developmental delay, and brittle hair syndrome tmpte7i6ely_mondo_relaxed.owl microcephaly, developmental delay, and brittle hair syndrome|MDBH|MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME OMIM:618891 owl:Class HP:0002093 biolink:NamedThing Respiratory insufficiency tmpte7i6ely_mondo_relaxed.owl Respiratory impairment|progressive respiratory failure|Respiratory function loss UMLS:C0035229|SNOMEDCT_US:409623005|UMLS:C4020855|MSH:D012131 HP:0004893|HP:0005937|HP:0006542 human_phenotype owl:Class MONDO:0001953 biolink:NamedThing pyuria The presence of excessive white blood cells in the urine as determined by urinalysis. tmpte7i6ely_mondo_relaxed.owl pus cells in urine|pyuria (disease)|pyuria pyuria (disease) MESH:D011776|HP:0012085|NCIT:C119028|DOID:1439 owl:Class MONDO:0025510 biolink:NamedThing pythiosis A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial. tmpte7i6ely_mondo_relaxed.owl pythium insidiosum infection|human pythiosis UMLS:C0276912|EFO:1001410|MESH:D058968|GARD:0011989 owl:Class MONDO:0007503 biolink:NamedThing ear without helix tmpte7i6ely_mondo_relaxed.owl ear without helix Orphanet:83463|OMIM:128800 owl:Class MONDO:0025419 biolink:NamedThing furunculosis A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. tmpte7i6ely_mondo_relaxed.owl boils|furuncle|Furuncles|Furunculoses NCIT:C34629|MESH:D005667 owl:Class UBERON:8410056 biolink:NamedThing capillary of anorectum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054837 biolink:NamedThing intellectual disability, autosomal dominant 57 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal dominant 57|intellectual disability, autosomal dominant 57|MRD57 OMIM:618050|UMLS:CN252334 owl:Class MONDO:0022945 biolink:NamedThing deafness peripheral neuropathy arterial disease tmpte7i6ely_mondo_relaxed.owl GARD:0001701 https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease owl:Class MONDO:0007830 biolink:NamedThing insensitivity to pain with hyperplastic Myelinopathy tmpte7i6ely_mondo_relaxed.owl insensitivity to pain with hyperplastic Myelinopathy OMIM:147530 owl:Class MONDO:0024378 biolink:NamedThing circadian rhythm sleep disorder, advanced sleep phase type A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal. tmpte7i6ely_mondo_relaxed.owl circadian rhythm sleep disorder, advanced sleep phase type|circadian rhythm sleep disorder, advanced sleep phase|ASPS|advanced sleep phase syndrome|sleep-wake schedule disorder, advanced phase type SCTID:31537005|ICD10:G47.22|ICD9:327.32 owl:Class MONDO:0008937 biolink:NamedThing cerebellar ataxia, benign, with thermoanalgesia tmpte7i6ely_mondo_relaxed.owl cerebellar ataxia with loss of pain and temperature sensation|cerebellar ataxia, benign, with thermoanalgesia UMLS:C1859303|MESH:C565868|OMIM:212890 owl:Class NCBITaxon:55824 biolink:NamedThing Hirudinea tmpte7i6ely_mondo_relaxed.owl leeches GC_ID:1 NCBITaxon:6403 ncbi_taxonomy owl:Class HP:0002486 biolink:NamedThing Myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. tmpte7i6ely_mondo_relaxed.owl Delayed relaxation of muscle fibers after contraction|Delayed relaxation of muscle fibres after contraction MSH:D009222|UMLS:C0027125|SNOMEDCT_US:3434004 Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. HP:0003792|HP:0003632|HP:0003754 human_phenotype owl:Class MONDO:0009854 biolink:NamedThing peroneus tertius muscle, absence of tmpte7i6ely_mondo_relaxed.owl peroneus tertius muscle, absence of OMIM:261400 owl:Class MONDO:0030861 biolink:NamedThing osteogenesis imperfecta, type 21 tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta, TYPE XXI|OI21 OMIM:619131 owl:Class MONDO:0004419 biolink:NamedThing lymphoma-like variant infiltrating bladder urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, lymphoma-like variant UMLS:C1512739|NCIT:C39822|DOID:7972 owl:Class MONDO:0009645 biolink:NamedThing chronic mucocutaneous candidiasis due to monocyte chemotactic disorder tmpte7i6ely_mondo_relaxed.owl monocyte chemotactic disorder MESH:C565371|OMIM:252250|UMLS:C1854982 owl:Class NCBITaxon:40005 biolink:NamedThing Yellow fever virus group tmpte7i6ely_mondo_relaxed.owl Yellow fever viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020410 biolink:NamedThing aorto-right ventricular tunnel tmpte7i6ely_mondo_relaxed.owl ICD10:Q20.8|Orphanet:99070 owl:Class MONDO:0042977 biolink:NamedThing trichoepithelioma, multiple familial, 1 tmpte7i6ely_mondo_relaxed.owl epithelioma, hereditary multiple benign cystic|MFT1|epithelioma adenoides cysticum of Brooke|Brooke-Fordyce Trichoepitheliomas|trichoepithelioma, multiple familial, 1|trichoepithelioma multiple familial 1|multiple familial trichoepithelioma 1 OMIM:601606|UMLS:C1275122|Orphanet:867|GARD:0005262|Orphanet:79493 owl:Class MONDO:0004874 biolink:NamedThing ganglion or cyst of synovium/tendon/bursa tmpte7i6ely_mondo_relaxed.owl ICD9:727.49|DOID:9754 owl:Class MONDO:0011169 biolink:NamedThing keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. tmpte7i6ely_mondo_relaxed.owl keratosis linearis with ichthyosis congenita and sclerosing keratoderma|KLICK|Klick syndrome|KLICK syndrome|keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome OMIM:601952|SCTID:763775000|Orphanet:281201|ICD10:Q82.8|UMLS:C1866029|MESH:C566600 owl:Class HGNC:16084 biolink:NamedThing LIMS2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001885 biolink:NamedThing lateral cystocele tmpte7i6ely_mondo_relaxed.owl UMLS:C2711750|DOID:14130|ICD10:N81.12|SCTID:441891001|ICD9:618.02 owl:Class MONDO:0015449 biolink:NamedThing criss-cross heart Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects. tmpte7i6ely_mondo_relaxed.owl criss-cross atrioventricular relationships|twisted atrioventricular connections|superoinferior ventricles Orphanet:1461|MESH:D003420|ICD10:Q24.8|ICD9:746.89|SCTID:253269002 owl:Class MONDO:0011741 biolink:NamedThing hirschsprung disease, susceptibility to, 6 tmpte7i6ely_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 6|HSCR6 OMIM:606874|Orphanet:388 owl:Class UBERON:2001626 biolink:NamedThing premaxillary tooth tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006976 biolink:NamedThing somatostatinoma A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. tmpte7i6ely_mondo_relaxed.owl somatostatin cell tumor|tumor of the Delta cells|somatostatinoma|ampullary somatostatinoma|somatostatin-producing neuroendocrine tumor|Somatomedin-secreting carcinoid|somatostatin-producing tumor|Delta cell tumor|carcinoid somatostatinoma|malignant islet cell tumor|somatostatin cell neoplasm|somatostatin producing tumor|somatostatin cell tumour|somatostatin-secreting pancreatic neoplasm|somatostatin-producing NET|tumor of Delta cells Orphanet:97283|SCTID:253006001|ICDO:8156/1|MESH:D013005|MedDRA:10041329|UMLS:C0037661|DOID:4430|ICD10:E16.8|ICD9:235.5|NCIT:C3379|EFO:1001187|GARD:0004900 https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma owl:Class GO:0006573 biolink:NamedThing valine metabolic process The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. tmpte7i6ely_mondo_relaxed.owl valine metabolism owl:Class MONDO:0032577 biolink:NamedThing retinitis pigmentosa 83 tmpte7i6ely_mondo_relaxed.owl RETINITIS PIGMENTOSA 83|RP83 OMIM:618173 owl:Class MONDO:0017852 biolink:NamedThing infantile spasms-broad thumbs syndrome A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. tmpte7i6ely_mondo_relaxed.owl Tsao Ellingson syndrome|infantile spasms broad thumbs|Tsao-Ellingson syndrome UMLS:CN203849|Orphanet:3173|GARD:0003002|ICD10:G40.4 https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs owl:Class MONDO:0043183 biolink:NamedThing podder-tolmie syndrome tmpte7i6ely_mondo_relaxed.owl meningoencephalocele, arthrogryposis and hypoplastic thumbs GARD:0004387|UMLS:C2931519|MESH:C537518 owl:Class FOODON:03400352 biolink:NamedThing international agency food product type Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008. tmpte7i6ely_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0352 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class HGNC:30022 biolink:NamedThing PPARGC1B tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01001022 biolink:NamedThing natural lake A lake which has formed as the result of processes that are not or are only minimally driven by human activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013121 biolink:NamedThing glaucoma 3, primary congenital, C tmpte7i6ely_mondo_relaxed.owl glaucoma 3, primary congenital, C|GLC3C Orphanet:98976|OMIM:613085 owl:Class MONDO:0007630 biolink:NamedThing North Carolina macular dystrophy North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. tmpte7i6ely_mondo_relaxed.owl North Carolina macular dystrophy, retinal 1|macular dystrophy retinal 1 North Carolina type|foveal dystrophy, progressive, formerly|central areolar pigment epithelial dystrophy|foveal dystrophy progressive|central retinal pigment epithelial dystrophy|retinal pigment epithelial dystrophy, central|retinal pigment epithelial dystrophy central|North Carolina macular dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type|NCMD|caped|MCDR1|foveal dystrophy, progressive|progressive foveal dystrophy|CAPE dystrophy OMIM:136550|SCTID:312925009|MESH:C537835|Orphanet:75327|UMLS:C0730294|ICD10:H35.5|GARD:0009179 OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy owl:Class MONDO:0020393 biolink:NamedThing discrete fibromuscular subaortic stenosis tmpte7i6ely_mondo_relaxed.owl Orphanet:99052|ICD10:Q24.4 owl:Class HP:0000297 biolink:NamedThing Facial hypotonia Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpte7i6ely_mondo_relaxed.owl Low facial muscle tone|Reduced facial muscle tone|Hypotonic facies|Decreased facial muscle tone|Atony of facial musculature UMLS:C4280646|UMLS:C1845251 human_phenotype owl:Class MONDO:0008385 biolink:NamedThing rhiny tmpte7i6ely_mondo_relaxed.owl craniorhiny|rhiny OMIM:180360|MESH:C566708 owl:Class MONDO:0019821 biolink:NamedThing aneurysm or dilatation of ascending aorta tmpte7i6ely_mondo_relaxed.owl Orphanet:95484|ICD10:Q25.4 owl:Class MONDO:0007831 biolink:NamedThing insect Stings, hypersensitivity to tmpte7i6ely_mondo_relaxed.owl insect Stings, hypersensitivity to OMIM:147540 owl:Class MONDO:0009331 biolink:NamedThing isolated hemihyperplasia Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma. tmpte7i6ely_mondo_relaxed.owl hemihypertrophy, isolated|IH|Hemicorporal hypertrophy|hemihyperplasia, isolated|isolated hemihypertrophy|hemihyperplasia|hemi-3 syndrome|hemi 3 syndrome ICD10:Q87.3|Orphanet:2128|MESH:C565524|MedDRA:10019463|UMLS:C1856184|GARD:0002630|OMIM:235000 owl:Class MONDO:0016042 biolink:NamedThing late-onset isolated ACTH deficiency Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. tmpte7i6ely_mondo_relaxed.owl ICD10:E23.6|Orphanet:199299 owl:Class MONDO:0007644 biolink:NamedThing IgAD1 Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. tmpte7i6ely_mondo_relaxed.owl IgA, selective deficiency of|Immunoglobulin A, selective deficiency of|IgAD1|gamma-A-globulin, selective deficiency of|IMMUNOGLOBULIN A deficiency 1 NCIT:C123434|MESH:C536290|OMIM:137100|UMLS:C0162538 owl:Class HGNC:33867 biolink:NamedThing SDHAF1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007071 biolink:NamedThing adrenocortical hypofunction, chronic primary congenital tmpte7i6ely_mondo_relaxed.owl Addison disease, congenital|adrenocortical hypofunction, chronic primary congenital ICD9:255.41|MESH:C562711|UMLS:C0271740|SCTID:12427005|OMIM:103230|Orphanet:85138 owl:Class MONDO:0015681 biolink:NamedThing childhood disintegrative disorder Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. tmpte7i6ely_mondo_relaxed.owl heller syndrome|dementia infantilis NCIT:C97164|MedDRA:10008522|UMLS:CN072151|Orphanet:168782|ICD10:F84.3|UMLS:C0236791|GARD:0006040|SCTID:71961003 https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder owl:Class MONDO:0033537 biolink:NamedThing combined oxidative phosphorylation deficiency 47 tmpte7i6ely_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47|COXPD47 OMIM:618958 owl:Class NCBITaxon:314147 biolink:NamedThing Glires tmpte7i6ely_mondo_relaxed.owl Rodents and rabbits PMID:12082125|GC_ID:1|PMID:15522813|PMID:11214319 ncbi_taxonomy owl:Class MONDO:0021918 biolink:NamedThing arena syndrome tmpte7i6ely_mondo_relaxed.owl spastic paraplegia with iron deposits in basal ganglia MESH:C537428|UMLS:C2931491|GARD:0009223 https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome owl:Class HGNC:5167 biolink:NamedThing HPV18I2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009333 biolink:NamedThing mullerian derivatives-lymphangiectasia-polydactyly syndrome Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. tmpte7i6ely_mondo_relaxed.owl Müllerian derivatives-lymphangiectasia-polydactyly syndrome|Urioste syndrome|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly|persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly GARD:0005430|UMLS:C1856159|OMIM:235255|MESH:C536478|Orphanet:1655 owl:Class MONDO:0032921 biolink:NamedThing neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation tmpte7i6ely_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION|NEDHRIT OMIM:618797 owl:Class MONDO:0007529 biolink:NamedThing elastosis perforans serpiginosa tmpte7i6ely_mondo_relaxed.owl Miescher elastoma|elastoma Intrapapillare perforans verruciformis|elastosis perforans serpiginosa|eps Orphanet:79148|MESH:C536202|ICD10:L87.2|UMLS:C0221271|MedDRA:10014338|SCTID:49428008|GARD:0010103|OMIM:130100 Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa owl:Class SO:1000030 biolink:NamedThing chromosomal_inversion An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type. tmpte7i6ely_mondo_relaxed.owl (bacteria)IN|chromosomal inversion|(Drosophila)In|(fungi)In owl:Class MONDO:0022509 biolink:NamedThing asternia Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs. tmpte7i6ely_mondo_relaxed.owl absent sternum GARD:0009221 https://rarediseases.info.nih.gov/diseases/9221/asternia owl:Class MONDO:0043087 biolink:NamedThing thickened earlobes with conductive deafness from incus-stapes abnormalities tmpte7i6ely_mondo_relaxed.owl thickened earlobes with conductive deafness from incus-stapes abnormalities|Schweitzer Kemink Graham syndrome|conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia GARD:0002034|MESH:C536511|UMLS:C2931222 owl:Class MONDO:0008180 biolink:NamedThing congenital velopharyngeal incompetence Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. tmpte7i6ely_mondo_relaxed.owl velopharyngeal incompetence|palatopharyngeal incompetence|velopharyngeal insufficiency ICD10:J39.2|GARD:0005470|Orphanet:2291|OMIM:167500|UMLS:C0042454|MESH:D014681 owl:Class HP:0002503 biolink:NamedThing Spinocerebellar tract degeneration tmpte7i6ely_mondo_relaxed.owl Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration UMLS:C1866751 human_phenotype owl:Class GO:0006997 biolink:NamedThing nucleus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. tmpte7i6ely_mondo_relaxed.owl nuclear organization|nuclear morphology|nucleus organization and biogenesis|nuclear organization and biogenesis|nuclear organisation owl:Class SO:0000300 biolink:NamedThing recombination_feature_of_rearranged_gene A location where a gene is rearranged due to recombination during mitosis or meiosis. tmpte7i6ely_mondo_relaxed.owl recombination feature of rearranged gene owl:Class MONDO:0022236 biolink:NamedThing colpocephaly Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. tmpte7i6ely_mondo_relaxed.owl GARD:0010008|MESH:C535973|SCTID:253160006 MONDO:0022808 https://rarediseases.info.nih.gov/diseases/10008/colpocephaly owl:Class MONDO:0006930 biolink:NamedThing pseudobulbar palsy A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. tmpte7i6ely_mondo_relaxed.owl pseudobulbar paralysis|pseudobulbar palsy UMLS:C0033790|ICD9:335.23|NCIT:C129934|DOID:12680|MESH:D020828|MedDRA:10037114|SCTID:7379000|EFO:1001131 owl:Class MONDO:0013108 biolink:NamedThing leukemia, acute lymphocytic, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl leukemia, acute lymphoblastic|leukemia, B-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphocytic, susceptibility to, 1|leukemia, T-cell acute lymphoblastic, susceptibility to|All1|leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to|leukemia, acute lymphoblastic, susceptibility to, 1|ALL OMIM:613065|Orphanet:513|UMLS:C2751595 owl:Class MONDO:0008258 biolink:NamedThing platelet signal processing defect tmpte7i6ely_mondo_relaxed.owl platelet signal processing defect OMIM:173590|MESH:C566796|UMLS:C1868199 owl:Class MONDO:0032804 biolink:NamedThing ectodermal dysplasia 15, hypohidrotic/hair type tmpte7i6ely_mondo_relaxed.owl ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE|ECTD15 DOID:0111651|OMIM:618535 owl:Class MONDO:0000910 biolink:NamedThing retinitis pigmentosa 6 A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2. tmpte7i6ely_mondo_relaxed.owl RP 6|retinitis pigmentosa type 6|RP6|retinitis pigmentosa, X-linked recessive, 6|retinitis pigmentosa 6 ICD10:H35.5|DOID:0110413|MESH:C564065|UMLS:C1839368|OMIM:312612|GARD:0010377 https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6 owl:Class MONDO:0100367 biolink:NamedThing port-wine nevi-mega cisterna magna-hydrocephalus syndrome A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. tmpte7i6ely_mondo_relaxed.owl nova syndrome Orphanet:2703 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011509 biolink:NamedThing low density lipoprotein cholesterol, mild elevation of tmpte7i6ely_mondo_relaxed.owl low density lipoprotein cholesterol, mild elevation of|Ldlc, mild elevation of OMIM:605028 owl:Class MONDO:0014177 biolink:NamedThing myopia 22, autosomal dominant tmpte7i6ely_mondo_relaxed.owl myopia 22, autosomal dominant|MYP22 UMLS:C3809464|OMIM:615420 owl:Class MONDO:0001765 biolink:NamedThing polyneuropathy in collagen vascular disease tmpte7i6ely_mondo_relaxed.owl SCTID:193177003|DOID:13649|ICD9:357.4|ICD9:357.1|UMLS:C0154759 owl:Class MONDO:0008314 biolink:NamedThing pronation-supination of the forearm, impairment of tmpte7i6ely_mondo_relaxed.owl pronation-supination of the forearm, impairment of UMLS:C1867726|MESH:C566757|OMIM:176800 owl:Class MONDO:0008494 biolink:NamedThing cryohydrocytosis A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. tmpte7i6ely_mondo_relaxed.owl pseudohyperkalemia Cardiff|hereditary cryohydrocytosis with normal stomatin|stomatocytosis, cold-sensitive|cryohydrocytosis|CHC OMIM:185020|ICD10:D58.8|UMLS:C1861453|Orphanet:398088|GARD:0010184|MESH:C535827|Orphanet:90044 owl:Class HGNC:23089 biolink:NamedThing SLC13A5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023208 biolink:NamedThing Fuqua Berkovitz syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002415 https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome owl:Class MONDO:0006121 biolink:NamedThing calcifying fibrous tumor A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. tmpte7i6ely_mondo_relaxed.owl calcifying fibrous tumor|calcifying fibrous pseudotumor|CFT EFO:1000148|NCIT:C6488|UMLS:C1332833 owl:Class MONDO:0009262 biolink:NamedThing GM1 gangliosidosis type 3 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. tmpte7i6ely_mondo_relaxed.owl GM1-gangliosidosis, type III|gangliosidosis, generalized GM1, chronic type|adult-onset GM1 gangliosidosis|GM1-gangliosidosis, type 3|gangliosidosis generalized GM1 chronic type|gangliosidosis GM1 type 3|gangliosidosis, generalized GM1, adult type|Beta-galactosidase deficiency type 3|adult GM1 gangliosidosis|gangliosidosis, generalized GM1, type 3 GARD:0002431|SCTID:238027003|DOID:0080489|Orphanet:79257|OMIM:230650|ICD10:E75.1|Orphanet:354 https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3 owl:Class HP:0011974 biolink:NamedThing Myelofibrosis Replacement of bone marrow by fibrous tissue. tmpte7i6ely_mondo_relaxed.owl UMLS:C0026987|SNOMEDCT_US:52967002 peter 2012-07-18T08:51:57Z human_phenotype owl:Class HGNC:20716 biolink:NamedThing KLC2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001808 biolink:NamedThing chronic subinvolution of uterus tmpte7i6ely_mondo_relaxed.owl ICD9:621.1|SCTID:198315005|UMLS:C0156370|DOID:13811 owl:Class NCIT:C16203 biolink:NamedThing Clinical or Research Activity tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016251 biolink:NamedThing salivary gland type cancer of the breast Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. tmpte7i6ely_mondo_relaxed.owl salivary gland type carcinoma of the breast ICD10:C50.2|ICD10:C50.5|GARD:0012774|ICD10:C50.0|ICD10:C50.1|ICD10:C50.4|ICD10:C50.8|ICD10:C50.6|ICD10:C50.3|Orphanet:213557|SCTID:716593008 Editor note: consider merging with mammary adenoid cystic carcinoma https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast owl:Class MONDO:0006898 biolink:NamedThing periarthritis Inflammation of the tissues around a joint. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl DOID:2964|SCTID:50921008|EFO:1001097|UMLS:C0031037|ICD10:M77.9|MedDRA:10034464|MESH:D010489 owl:Class MONDO:0013080 biolink:NamedThing primary biliary cholangitis 3 tmpte7i6ely_mondo_relaxed.owl PBC3|biliary cirrhosis, primary, 3 MESH:C567816|Orphanet:186|OMIM:613008|UMLS:C2751695 owl:Class NCBITaxon:31704 biolink:NamedThing Coxsackievirus A16 tmpte7i6ely_mondo_relaxed.owl CVA16|Human coxsackievirus A16|Coxsackie virus A-16|Human enterovirus CVA16|CVA-16|Coxsackie A virus type 16|CV-A16 GC_ID:1 ncbi_taxonomy owl:Class HGNC:5010 biolink:NamedThing HMGA1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009497 biolink:NamedThing Kifafa seizure disorder tmpte7i6ely_mondo_relaxed.owl parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|Vitsala|Kifafa seizure disorder|Complex familial seizure disorder|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes MESH:C537708|UMLS:C0796010|OMIM:245180|GARD:0008420 https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder owl:Class MONDO:0010887 biolink:NamedThing isolated anterior cervical hypertrichosis Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood. tmpte7i6ely_mondo_relaxed.owl hypertrichosis, anterior cervical|Tsukahara-Kajii syndrome|hairy throat|Tsukahara Kajii syndrome|anterior cervical hypertrichosis|hairy throat syndrome Orphanet:3387|OMIM:600457|ICD10:L68.2|GARD:0008438|MESH:C538390|SCTID:717963001|UMLS:C1838123 https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis owl:Class MONDO:0004341 biolink:NamedThing colloid carcinoma of the pancreas An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. tmpte7i6ely_mondo_relaxed.owl pancreatic mucinous Noncystic carcinoma|mucinous Noncystic carcinoma|colloid carcinoma of the pancreas DOID:7717|UMLS:C1333081|NCIT:C37214 owl:Class MONDO:0004929 biolink:NamedThing constant exophthalmos tmpte7i6ely_mondo_relaxed.owl SCTID:89907009|DOID:9945|ICD10:H05.24|UMLS:C0155267|ICD9:376.31 owl:Class MONDO:0016563 biolink:NamedThing progressive supranuclear palsy-corticobasal syndrome PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpte7i6ely_mondo_relaxed.owl PSP-corticobasal syndrome|PSP-CBS ICD10:G23.1|Orphanet:240103|UMLS:CN201681 owl:Class MONDO:0019769 biolink:NamedThing X-linked intellectual disability, Sutherland-Haan type tmpte7i6ely_mondo_relaxed.owl UMLS:CN206704|Orphanet:93950 owl:Class ENVO:00000017 biolink:NamedThing saline hydrographic feature A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L). tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:00000012 biolink:NamedThing hydrographic feature A geographical feature associated with water. tmpte7i6ely_mondo_relaxed.owl fluvial feature owl:Class MONDO:0016081 biolink:NamedThing coronary arterial fistulas Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. tmpte7i6ely_mondo_relaxed.owl Coronaro-cardiac fistula|coronary arterial malformations GARD:0001533|Orphanet:2041|MedDRA:10069441|ICD10:Q24.5 owl:Class MONDO:0013705 biolink:NamedThing intellectual disability, autosomal recessive 19 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 19|intellectual disability, autosomal recessive 19|MRT19 OMIM:614343|UMLS:C3280541|Orphanet:88616 owl:Class MONDO:0022779 biolink:NamedThing cleft lip palate oligodontia syndactyly pili torti tmpte7i6ely_mondo_relaxed.owl GARD:0001381 https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti owl:Class MONDO:0009930 biolink:NamedThing pulmonary arteriovenous malformation Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. tmpte7i6ely_mondo_relaxed.owl PAVM|pulmonary arteriovenous malformation|pulmonary arteriovenous malformation (disease)|arteriovenous fistula of pulmonary vessels|pulmonary AV fistula|pulmonary arteriovenous fistulas|pulmonary arterio-veinous fistula|pulmonary arteriovenous fistula|pulmonar arteriovenous aneurysm pulmonary arteriovenous malformation (disease) 2022-04-01 NCIT:C99029|MedDRA:10037332|OMIM:265140|ICD10:Q25.7|SCTID:303070000|MESH:C562404|Orphanet:2038|UMLS:C0155675|GARD:0004584|HP:0006548 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0006548 HP:0006548 owl:Class HP:0012072 biolink:NamedThing Aciduria Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. tmpte7i6ely_mondo_relaxed.owl Acidic urine SNOMEDCT_US:21806007|UMLS:C0278026 human_phenotype owl:Class MONDO:0001736 biolink:NamedThing neonatal infective mastitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0158948|DOID:13520|SCTID:3468005|ICD9:771.5|ICD10:P39.0 owl:Class CHEBI:23976 biolink:NamedThing ethanediol Any diol that is ethane or substituted ethane carrying two hydroxy groups. tmpte7i6ely_mondo_relaxed.owl ethanediols owl:Class MONDO:0013102 biolink:NamedThing basal cell carcinoma, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 3|BCC3 UMLS:C2751605|OMIM:613059 owl:Class MONDO:0030519 biolink:NamedThing agammaglobulinemia 9, autosomal recessive tmpte7i6ely_mondo_relaxed.owl AGM9 OMIM:619693 owl:Class HP:0000982 biolink:NamedThing Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. tmpte7i6ely_mondo_relaxed.owl Thickening of palms and soles|Palmar and plantar keratoderma MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596 human_phenotype owl:Class GO:0032114 biolink:NamedThing regulation of glucose-6-phosphatase activity Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006313 biolink:NamedThing nabothian cyst A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium. tmpte7i6ely_mondo_relaxed.owl Wikipedia:Nabothian_cyst|UMLS:C0027269|NCIT:C34835|SCTID:24565001|EFO:1000390 Editor note: check this owl:Class MONDO:0017696 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form tmpte7i6ely_mondo_relaxed.owl glycogenosis type 4, non progressive hepatic form|GSD type 4, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|glycogen storage disease type IV, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|glycogenosis type IV, non progressive hepatic form|GSDIV, non progressive hepatic form ICD10:E74.0|OMIM:232500|Orphanet:308638|UMLS:CN203595 owl:Class ECTO:9002062 biolink:NamedThing exposure to food propellant An exposure to food propellant. tmpte7i6ely_mondo_relaxed.owl exposure to food propellant owl:Class MONDO:0007491 biolink:NamedThing dystelephalangy tmpte7i6ely_mondo_relaxed.owl dystelephalangy|Kirner deformity|congenital bilateral metadiaphyseal acrodysplasia of the little finger OMIM:128000|MESH:C538000|GARD:0010059|UMLS:C1851955 https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy owl:Class HP:0004357 biolink:NamedThing Abnormal circulating leucine concentration Any deviation from the normal circulation of leucine in the blood circulation. tmpte7i6ely_mondo_relaxed.owl UMLS:C4025341 peter 2008-03-17T03:02:00Z human_phenotype owl:Class MONDO:0005736 biolink:NamedThing eastern equine encephalitis Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. tmpte7i6ely_mondo_relaxed.owl Neuroinvasive Eastern equine encephalitis virus infection|EEE|Eastern equine encephalomyelitis ICD9:062.2|DOID:10841|Orphanet:83594|EFO:0007242|UMLS:C0153065|ICD10:A83.2|GARD:0010821|MedDRA:10014587|MESH:D020242 https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis owl:Class MONDO:0003140 biolink:NamedThing immune-complex glomerulonephritis Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. tmpte7i6ely_mondo_relaxed.owl immune Complex glomerulonephritis UMLS:C0744421|DOID:4784|NCIT:C35800|SCTID:123752003|ICD9:583.89 owl:Class MONDO:0042602 biolink:NamedThing Samson-Viljoen syndrome tmpte7i6ely_mondo_relaxed.owl Samson Viljoen syndrome|lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia GARD:0000152|UMLS:C2931449|MESH:C537231 owl:Class MONDO:0001911 biolink:NamedThing tracheal calcification Abnormal deposits of calcium in the tracheal tissue. tmpte7i6ely_mondo_relaxed.owl calcification of trachea SCTID:81089005|UMLS:C0264324|ICD9:519.19|DOID:14224|HP:0002787|NCIT:C35314 Editor note: consider ceding to HPO owl:Class MONDO:0032809 biolink:NamedThing hepatitis, fulminant viral, susceptibility to tmpte7i6ely_mondo_relaxed.owl FVH|HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO OMIM:618549 owl:Class MONDO:0032824 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 21 tmpte7i6ely_mondo_relaxed.owl Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21|GPIBD21 OMIM:618590 owl:Class MONDO:0008534 biolink:NamedThing generalized essential telangiectasia tmpte7i6ely_mondo_relaxed.owl GET|Hbt|telangiectasia, generalized essential|telangiectasia, hereditary benign UMLS:C0473555|SCTID:238763007|OMIM:187260|Orphanet:280774 owl:Class GO:0090139 biolink:NamedThing mitochondrial DNA packaging Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012194 biolink:NamedThing aneurysm, intracranial berry, 3 tmpte7i6ely_mondo_relaxed.owl aneurysm, intracranial BERRY, 3|ANIB3 MESH:C563792|Orphanet:231160|UMLS:C1836757|OMIM:609122 owl:Class MONDO:0017503 biolink:NamedThing acheiria, bilateral tmpte7i6ely_mondo_relaxed.owl congenital absence of hand, bilateral ICD10:Q71.3|Orphanet:295103|SCTID:371189003 owl:Class MONDO:0017925 biolink:NamedThing T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. tmpte7i6ely_mondo_relaxed.owl T-cell immunodeficiency due to RHOH deficiency Orphanet:324294|ICD10:D84.8|UMLS:CN714013 owl:Class MONDO:0020489 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 1 tmpte7i6ely_mondo_relaxed.owl corticosterone methyloxidase deficiency type I|FHHA1|CMO I|CMO II|18-oxidase deficiency|18-hydroxylase deficiency|aldosterone synthase deficiency Orphanet:99763|OMIM:203400|DOID:0080626|ICD10:E27.4|OMIM:610600|UMLS:C4289986 owl:Class MONDO:0004487 biolink:NamedThing endometrial type cervical adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia. tmpte7i6ely_mondo_relaxed.owl cervical adenomyoma, endometrial type NCIT:C40233|UMLS:C1516406|DOID:8178 owl:Class MONDO:0020837 biolink:NamedThing oocyte maturation defect 5 tmpte7i6ely_mondo_relaxed.owl oocyte maturation defect 5|OOMD5 OMIM:617996 owl:Class MONDO:0019870 biolink:NamedThing distal trisomy 1p36 Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. tmpte7i6ely_mondo_relaxed.owl telomeric duplication 1p36|distal duplication 1p36|trisomy 1pter|distal trisomy type 1p36 Orphanet:96069|ICD10:Q92.3|UMLS:CN244049|SCTID:766053003 owl:Class MONDO:0013434 biolink:NamedThing primary ciliary dyskinesia 14 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. tmpte7i6ely_mondo_relaxed.owl CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14, with or without situs inversus|ciliary dyskinesia, primary, type 14|primary ciliary dyskinesia caused by mutation in CCDC39|primary ciliary dyskinesia 14|ciliary dyskinesia, primary, 14|primary ciliary dyskinesia type 14|primary ciliary dyskinesia 14 with or without situs inversus|CILD14 DOID:0110598|UMLS:C3151136|ICD10:Q34.8|OMIM:613807|Orphanet:244 owl:Class HP:0002197 biolink:NamedThing Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. tmpte7i6ely_mondo_relaxed.owl Generalised-onset seizure|Generalized seizures|Generalized onset seizure|Generalized-onset seizures|Generalised seizures|Primary generalized seizure|Primary generalised seizure|Generalised onset seizure UMLS:C0234533|UMLS:C1833488|SNOMEDCT_US:246545002|MSH:D012640 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. HP:0002409|HP:0007339|HP:0007114 human_phenotype owl:Class HGNC:13875 biolink:NamedThing FOXP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008135 biolink:NamedThing optic atrophy 13 with retinal and foveal abnormalities tmpte7i6ely_mondo_relaxed.owl optic atrophy with negative Electroretinograms|optic atrophy 13 with retinal and foveal abnormalities OMIM:165510|UMLS:C1833799|MESH:C563494 owl:Class MONDO:0011757 biolink:NamedThing brachydactyly type A1B tmpte7i6ely_mondo_relaxed.owl brachydactyly, type A1, B|BDA1B Orphanet:93388|DOID:0110974|MESH:C564635|OMIM:607004|UMLS:C1846949 owl:Class MONDO:0014679 biolink:NamedThing polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis tmpte7i6ely_mondo_relaxed.owl PMGYCHA|polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis UMLS:C4225295|OMIM:616531|Orphanet:268940|Orphanet:98889 owl:Class MONDO:0001548 biolink:NamedThing hepatic coma A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) tmpte7i6ely_mondo_relaxed.owl hepatocerebral intoxication UMLS:C0019147|ICD9:070.42|DOID:12550|SCTID:72836002|MESH:D006501|ICD10:K72.91 owl:Class MONDO:0001915 biolink:NamedThing orbital cyst tmpte7i6ely_mondo_relaxed.owl orbit cyst DOID:14233|ICD10:H05.81|HP:0001144|SCTID:31021007|UMLS:C0155285|ICD9:376.81 Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666] owl:Class MONDO:0020763 biolink:NamedThing Menke-Hennekam syndrome 1 tmpte7i6ely_mondo_relaxed.owl Menke-Hennekam syndrome 1|MKHK1 OMIM:618332 owl:Class MONDO:0700001 biolink:NamedThing shrinking lung syndrome A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient. tmpte7i6ely_mondo_relaxed.owl SLS|small lungs|shrinking of the lung Chest x-ray often shows small but clear lungs. It is mostly presented in combination with diaphragmatic elevation and occasional basal atelectasis. http://orcid.org/0000-0002-4142-7153 owl:Class CL:1000283 biolink:NamedThing smooth muscle fiber of transverse colon A smooth muscle cell that is part of the transverse colon. tmpte7i6ely_mondo_relaxed.owl non-striated muscle fiber of transverse colon FMA:17519 cell owl:Class MONDO:0020751 biolink:NamedThing orthostatic hypotension 2 tmpte7i6ely_mondo_relaxed.owl OMIM:618182 owl:Class MONDO:0033554 biolink:NamedThing immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia tmpte7i6ely_mondo_relaxed.owl IMD73B|immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia OMIM:618986 owl:Class MONDO:0002342 biolink:NamedThing chondromalacia Pathological processes involving the chondral tissue (cartilage). tmpte7i6ely_mondo_relaxed.owl ICD9:733.92|UMLS:C0085700|ICD10:M94.2|MESH:D002357|DOID:2557|ICD10:M94.20|SCTID:63198006 owl:Class MONDO:0003590 biolink:NamedThing fibroblastic liposarcoma A liposarcoma characterized by the presence of a fibroblastic component. tmpte7i6ely_mondo_relaxed.owl fibroblastic liposarcoma (morphologic abnormality)|fibroblastic liposarcoma DOID:5698|UMLS:C1266130|ICDO:8857/3|NCIT:C6509 owl:Class MONDO:0054836 biolink:NamedThing parkinsonism-dystonia, infantile, 2 tmpte7i6ely_mondo_relaxed.owl PKDYS2|Parkinsonism-dystonia, infantile, 2 OMIM:618049|UMLS:CN248785 owl:Class MONDO:0011033 biolink:NamedThing type 1 diabetes mellitus 13 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34. tmpte7i6ely_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 13|insulin-dependent diabetes mellitus 13|IDDM13 OMIM:601318|MESH:C563352|ICD10:E10|DOID:0110752|UMLS:C1832474 owl:Class MONDO:0018011 biolink:NamedThing juvenile overlap myositis Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. tmpte7i6ely_mondo_relaxed.owl SCTID:766252004|Orphanet:329894|ICD10:M33.0 owl:Class MONDO:0000417 biolink:NamedThing early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. tmpte7i6ely_mondo_relaxed.owl DOID:0050708 owl:Class MONDO:0006798 biolink:NamedThing hypervitaminosis A A symptom complex resulting from ingesting excessive amounts of vitamin A. tmpte7i6ely_mondo_relaxed.owl hypervitaminosis type A ICD10:E67.0|EFO:1000978|DOID:9972|MESH:D006986|SCTID:64559002|ICD9:278.2|MedDRA:10020916|UMLS:C0020579 owl:Class MONDO:0008778 biolink:NamedThing amyloidosis, cutaneous bullous tmpte7i6ely_mondo_relaxed.owl amyloidosis, cutaneous bullous SCTID:38606009|OMIM:204900|MESH:C562644|UMLS:C0268399|ICD9:277.39 owl:Class HP:0001962 biolink:NamedThing Palpitations A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. tmpte7i6ely_mondo_relaxed.owl Heart palpitations|Palpitations|Missed heart beat|Skipped heart beat SNOMEDCT_US:80313002|UMLS:C0030252 HP:0001676 human_phenotype owl:Class MONDO:0012968 biolink:NamedThing Usher syndrome type 1H An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. tmpte7i6ely_mondo_relaxed.owl USHER syndrome, type IH|USH1H|Usher syndrome type IH DOID:0110835|OMIM:612632|Orphanet:231169|Orphanet:886|ICD10:H35.5|MESH:C567227|UMLS:C2675458 owl:Class NCBITaxon:8492 biolink:NamedThing Archosauria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:9038 biolink:NamedThing PLA2G5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014453 biolink:NamedThing immunodeficiency 36 tmpte7i6ely_mondo_relaxed.owl immunodeficiency type 36|immunodeficiency 36|IMD36 OMIM:616005|UMLS:C4014934|Orphanet:397596 owl:Class MONDO:0022697 biolink:NamedThing athetoid cerebral palsy A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. tmpte7i6ely_mondo_relaxed.owl athetoid cerebral palsy|cerebral palsy dyskinetic|dyskinetic cerebral palsy|athetoid dyskinetic cerebral palsy|ADCP GARD:0010449|UMLS:C0270742|SCTID:75019001|SCTID:230780007|NCIT:C97169|ICD10:G80.3|DOID:0050672 https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid owl:Class MONDO:0013095 biolink:NamedThing glioma susceptibility 6 tmpte7i6ely_mondo_relaxed.owl glioma susceptibility 6|GLM6 OMIM:613031|UMLS:C2751639|Orphanet:182067 owl:Class HGNC:986 biolink:NamedThing BCKDHA tmpte7i6ely_mondo_relaxed.owl owl:Class ECTO:4000035 biolink:NamedThing exposure to increased water pressure A exposure event involving the interaction of an exposure receptor to increased amount of pressure of water. tmpte7i6ely_mondo_relaxed.owl exposure to increased amount in pressure of water owl:Class MONDO:0007193 biolink:NamedThing primary biliary cholangitis 1 tmpte7i6ely_mondo_relaxed.owl PBC1|Pbc|biliary cirrhosis, primary, 1 UMLS:C0008312|Orphanet:186|OMIM:109720|UMLS:CN029380 owl:Class HGNC:11006 biolink:NamedThing SLC2A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001034 biolink:NamedThing marginal corneal ulcer tmpte7i6ely_mondo_relaxed.owl SCTID:47398006|DOID:10441|ICD9:370.01|UMLS:C0155067|ICD10:H16.04 owl:Class MONDO:0023179 biolink:NamedThing fragile X syndrome type 2 tmpte7i6ely_mondo_relaxed.owl GARD:0002367 https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2 owl:Class MONDO:0015553 biolink:NamedThing dystrophic epidermolysis bullosa, nails only Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails. tmpte7i6ely_mondo_relaxed.owl nails-only DEB|nails-only DDEB|dominant dystrophic epidermolysis bullosa, nails only|DEB-na Orphanet:158676|ICD10:Q81.2|SCTID:722436002|UMLS:CN199732 owl:Class MONDO:0007811 biolink:NamedThing ichthyosis-cheek-eyebrow syndrome Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. tmpte7i6ely_mondo_relaxed.owl Ice syndrome|Sidransky-Feinstein-Goodman syndrome|Sidransky Feinstein Goodman syndrome|ichthyosis cheek eyebrow syndrome|ichthyosis--cheek--eyebrow syndrome OMIM:146720|SCTID:716097001|GARD:0002947|MESH:C536084|Orphanet:2267 owl:Class MONDO:0021540 biolink:NamedThing hamartoma of lung A hamartoma (disease) that involves the lung. tmpte7i6ely_mondo_relaxed.owl pulmonary hamartoma|hamartoma of the lung|lung chondroid hamartoma|lung hamartoma (disease)|lung hamartoma ICD9:235.7|SCTID:254644003|NCIT:C3497|UMLS:C0149927 owl:Class HGNC:7892 biolink:NamedThing PNP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009135 biolink:NamedThing anemia, congenital dyserythropoietic, type 1a tmpte7i6ely_mondo_relaxed.owl CDA Ia|anemia, congenital dyserythropoietic, type 1|anemia, congenital dyserythropoietic, type Ia|anemia, congenital dyserythropoietic, type 1a|dyserythropoietic Anemia, congenital, type Ia|CDAN1A OMIM:224120|Orphanet:98869|DOID:0111398 owl:Class NCBITaxon:1639119 biolink:NamedThing Plasmodiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017692 biolink:NamedThing generalized galactose epimerase deficiency tmpte7i6ely_mondo_relaxed.owl generalized epimerase deficiency galactosemia|generalized GALE-D|generalized GALE deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency|generalized UDP-galactose-4-epimerase deficiency Orphanet:308487|UMLS:C0574089|SCTID:297237003|ICD10:E74.2 owl:Class MONDO:0011061 biolink:NamedThing chorea, remitting, with nystagmus and cataract tmpte7i6ely_mondo_relaxed.owl chorea, remitting with nystagmus and cataracts|chorea, remitting, with nystagmus and cataract|familial remitting chorea, nystagmus and cataracts UMLS:C1832422|MESH:C535355|GARD:0009606|OMIM:601372 owl:Class GO:1901264 biolink:NamedThing carbohydrate derivative transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008709 biolink:NamedThing acrocephalopolydactyly Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. tmpte7i6ely_mondo_relaxed.owl Elejalde syndrome|acrocephalopolydactylous dysplasia ICD10:Q87.0|UMLS:C3495588|OMIM:200995|SCTID:720417003|MESH:C573722|GARD:0002096|Orphanet:221054|GARD:0000486|UMLS:CN201238 Editor note: check GARD owl:Class MONDO:0004106 biolink:NamedThing testicular yolk sac tumor, macrocystic pattern A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. tmpte7i6ely_mondo_relaxed.owl testicular yolk sac tumor, macrocystic pattern|macrocystic pattern testicular yolk sac tumor DOID:7097|UMLS:C1515307|NCIT:C39924 owl:Class MONDO:0022402 biolink:NamedThing agyria-pachygyria type 1 A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei. tmpte7i6ely_mondo_relaxed.owl type I lissencephaly|Bielchowsky type of lissencephaly GARD:0000573 https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1 owl:Class ENVO:01001609 biolink:NamedThing cryospheric layer A layer which is part of a cryosphere. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4696 biolink:NamedThing GUSB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017835 biolink:NamedThing lymphocytic hypereosinophilic syndrome tmpte7i6ely_mondo_relaxed.owl lymphocytic variant HES|HES-L|lymphoid HES UMLS:CN203810|Orphanet:314970|ICD10:D47.5 owl:Class HGNC:11817 biolink:NamedThing TIMM8A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006748 biolink:NamedThing epilepsia partialis continua A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) tmpte7i6ely_mondo_relaxed.owl EFO:1000924|MESH:D017036|ICD9:345.70|SCTID:241006|MedDRA:10015034|ICD9:345.7 owl:Class FOODON:00001916 biolink:NamedThing grain based alcoholic beverage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002110 biolink:NamedThing adrenal rest tumor A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia. tmpte7i6ely_mondo_relaxed.owl adrenal rest neoplasm|adrenal rest tumor DOID:1786|UMLS:C0001630|ICDO:8671/0|NCIT:C2860|EFO:1000798|MESH:D000314 owl:Class MONDO:0008581 biolink:NamedThing malposition of teeth with or without hypodontia/oligodontia tmpte7i6ely_mondo_relaxed.owl ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia OMIM:189490 owl:Class MONDO:0013575 biolink:NamedThing plasma fibronectin deficiency tmpte7i6ely_mondo_relaxed.owl plasma fibronectin deficiency OMIM:614101 owl:Class MONDO:0100109 biolink:NamedThing Zinner syndrome A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016725 biolink:NamedThing pineal parenchymal tumor of intermediate differenciation Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. tmpte7i6ely_mondo_relaxed.owl ICD10:D44.5|UMLS:CN201973|Orphanet:251919 owl:Class MONDO:0009860 biolink:NamedThing phenformin 4-hydroxylation tmpte7i6ely_mondo_relaxed.owl phenformin 4-hydroxylation OMIM:261590 owl:Class MONDO:0008500 biolink:NamedThing striae distensae, familial tmpte7i6ely_mondo_relaxed.owl striae distensae, familial UMLS:C1861447|MESH:C566104|OMIM:185200 owl:Class MONDO:0017712 biolink:NamedThing combined pancreatic lipase-colipase deficiency A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. tmpte7i6ely_mondo_relaxed.owl OMIM:614338|Orphanet:309111|ICD10:K90.3 owl:Class MONDO:0017205 biolink:NamedThing primary oculocerebral lymphoma Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits. tmpte7i6ely_mondo_relaxed.owl primary oculocerebral non-Hodgkin lymphoma Orphanet:279897 owl:Class MONDO:0030866 biolink:NamedThing neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities tmpte7i6ely_mondo_relaxed.owl NEDCASB OMIM:619121 owl:Class UBERON:0009204 biolink:NamedThing medial nasal process mesenchyme tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0020389 biolink:NamedThing pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome tmpte7i6ely_mondo_relaxed.owl APV/PDA, non-Fallot type|PVA/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome Orphanet:99048|UMLS:CN207270|ICD10:Q22.2 owl:Class MONDO:0012515 biolink:NamedThing glaucoma 1, open angle, M tmpte7i6ely_mondo_relaxed.owl glaucoma 1, open angle, M|JOAG1M|GLC1M UMLS:C1864653|Orphanet:98977|MESH:C566436|OMIM:610535 owl:Class MONDO:0008461 biolink:NamedThing splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells tmpte7i6ely_mondo_relaxed.owl splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells UMLS:C1866744|MESH:C566666|OMIM:183350 owl:Class HGNC:40038 biolink:NamedThing PET100 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023124 biolink:NamedThing familial pulmonary arterial hypertension leucopenia and atrial septal defect tmpte7i6ely_mondo_relaxed.owl familial PAH, leucopenia and ASD|familial pulmonary arterial hypertension, leucopenia and ASD GARD:0010455 https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect owl:Class MONDO:0017551 biolink:NamedThing humero-radial synostosis, bilateral tmpte7i6ely_mondo_relaxed.owl humero-radial fusion, bilateral Orphanet:295211|ICD10:Q74.0 owl:Class MONDO:0004706 biolink:NamedThing discoid lupus erythematosus of eyelid tmpte7i6ely_mondo_relaxed.owl ICD10:H01.12|UMLS:C0155180|SCTID:79291003|DOID:9076|ICD9:373.34 owl:Class MONDO:0008085 biolink:NamedThing neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance MESH:C563517|OMIM:162380|UMLS:C1834205 owl:Class MONDO:0003738 biolink:NamedThing selective IgE deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. tmpte7i6ely_mondo_relaxed.owl selective IgE immunodeficiency|selective immunoglobulin E deficiency DOID:6024|SCTID:234540007|ICD9:279.03|NCIT:C27143|UMLS:C0398694 owl:Class HGNC:3430 biolink:NamedThing ERBB2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032928 biolink:NamedThing T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant tmpte7i6ely_mondo_relaxed.owl TLIND|T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT OMIM:618806 owl:Class MONDO:0010105 biolink:NamedThing teratoma, pineal tmpte7i6ely_mondo_relaxed.owl teratoma, pineal MESH:C537401|OMIM:273120|UMLS:C1848902 owl:Class MONDO:0007466 biolink:NamedThing DNA, satellite, 3 tmpte7i6ely_mondo_relaxed.owl DNA, satellite, III|HS3|D1Z1|DNA, satellite, type 3 OMIM:126370 Editor note: TODO check owl:Class MONDO:0017944 biolink:NamedThing invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed. tmpte7i6ely_mondo_relaxed.owl iNTS disease|invasive non-typhoidal salmonella disease Orphanet:324648|ICD10:A02.1|SCTID:763772002|ICD10:A02.8|ICD10:A02.0|ICD10:A02.9|ICD10:A02.2 owl:Class HP:0001686 biolink:NamedThing Loss of voice tmpte7i6ely_mondo_relaxed.owl Aphonia UMLS:C0003564|MSH:D001044|SNOMEDCT_US:441913003|SNOMEDCT_US:44564008 human_phenotype owl:Class MONDO:0001412 biolink:NamedThing conjunctival concretion tmpte7i6ely_mondo_relaxed.owl DOID:11988|ICD10:H11.12|ICD9:372.54|SCTID:13706005 owl:Class NCBITaxon:689831 biolink:NamedThing Spinareovirinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002152 biolink:NamedThing intermittent squint tmpte7i6ely_mondo_relaxed.owl intermittent heterotropia ICD9:378.2|UMLS:C0152210|ICD10:H50.3|ICD10:H50.30|ICD9:378.20|DOID:1942|SCTID:74025007 owl:Class HP:0003398 biolink:NamedThing Abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. tmpte7i6ely_mondo_relaxed.owl Abnormality of neuromuscular transmission UMLS:C4025618|UMLS:C4020842 human_phenotype owl:Class MONDO:0019531 biolink:NamedThing hemolytic anemia due to glutathione reductase deficiency Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. tmpte7i6ely_mondo_relaxed.owl HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM:618660|ICD10:D55.1|Orphanet:90030 MONDO:0032856 owl:Class MONDO:0009407 biolink:NamedThing hypertrophic neuropathy and cataract tmpte7i6ely_mondo_relaxed.owl hypertrophic neuropathy and cataract OMIM:239900|MESH:C565490|UMLS:C1855885 owl:Class MONDO:0015092 biolink:NamedThing cleft hard palate tmpte7i6ely_mondo_relaxed.owl Orphanet:101023|SCTID:448915004|ICD10:Q35.1 owl:Class HGNC:33425 biolink:NamedThing MIAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010834 biolink:NamedThing hirschsprung disease, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl HSCR5|Hirschsprung disease, susceptibility to, 5 Orphanet:388|OMIM:600156 owl:Class MONDO:0020449 biolink:NamedThing persistent eustachian valve tmpte7i6ely_mondo_relaxed.owl ICD10:Q26.8|Orphanet:99120 owl:Class MONDO:0007241 biolink:NamedThing bundle branch block, familial isolated complete right tmpte7i6ely_mondo_relaxed.owl bundle branch block, familial isolated complete right MESH:C562759|SCTID:233919006|UMLS:C0340504|OMIM:113950 owl:Class MONDO:0007708 biolink:NamedThing Kasabach-Merritt syndrome Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. tmpte7i6ely_mondo_relaxed.owl Kasabach Merritt syndrome|Kasabach-Merritt syndrome|hemangiomatosis with thrombocytopenia|thrombopenia-hemangioma syndrome|hemangioma thrombocytopenia syndrome|hemangioma-thrombocytopenia syndrome|Kasabach Merritt phenomenon|KMP|thrombocytopenia-hemangioma syndrome|hemangioma-hemorrhage syndrome NCIT:C3821|MESH:D059885|SCTID:86635005|ICD10:D18.0|GARD:0000070|OMIM:141000|ICD9:287.39|MedDRA:10058423|Orphanet:2330|UMLS:C0221025 owl:Class MONDO:0000457 biolink:NamedThing classical glioblastoma A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification. tmpte7i6ely_mondo_relaxed.owl classical glioblastoma|glioblastoma classical subtype NCIT:C111694|DOID:0050803|UMLS:C3827253 owl:Class MONDO:0010872 biolink:NamedThing parotid salivary glands, polycystic dysgenetic disease of tmpte7i6ely_mondo_relaxed.owl PDDP|parotid salivary glands, polycystic dysgenetic disease OF OMIM:600343 owl:Class MONDO:0011780 biolink:NamedThing specific language impairment 3 tmpte7i6ely_mondo_relaxed.owl specific language impairment quantitative trait locus on chromosome 13|specific language impairment 3|SLI3 UMLS:C1846719|OMIM:607134 owl:Class MONDO:0007789 biolink:NamedThing hypertrophia musculorum vera tmpte7i6ely_mondo_relaxed.owl hypertrophia musculorum vera MESH:C564152|UMLS:C1840361|OMIM:145800 owl:Class MONDO:0060456 biolink:NamedThing cerebral sclerosis, diffuse, scholz type tmpte7i6ely_mondo_relaxed.owl cerebral sclerosis, diffuse, scholz type OMIM:302700|MESH:C564449 owl:Class HGNC:20862 biolink:NamedThing SLC39A8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004269 biolink:NamedThing breast cystic hypersecretory carcinoma tmpte7i6ely_mondo_relaxed.owl cystic hypersecretory duct carcinoma of the breast|cystic hypersecretory carcinoma of the breast DOID:7537 owl:Class MONDO:0003208 biolink:NamedThing breast secretory carcinoma A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas. tmpte7i6ely_mondo_relaxed.owl cystic hypersecretory carcinoma of breast|juvenile breast carcinoma|invasive cystic hypersecretory duct breast carcinoma|juvenile carcinoma of the breast (morphologic abnormality)|secretory carcinoma of the breast|juvenile secretory carcinoma of the breast|secretory carcinoma|juvenile secretory breast carcinoma|secretory breast carcinoma|secretory carcinoma of breast|cystic hypersecretory breast carcinoma|SBC|juvenile carcinoma of the breast|juvenile carcinoma (formerly)|juvenile carcinoma of breast|JSCB|infiltrating cystic hypersecretory duct breast carcinoma|juvenile secretory carcinoma of breast|cystic hypersecretory carcinoma of the breast NCIT:C4189|ICDO:8502/3|ICDO:8508/3|MESH:C537535|GARD:0009408|DOID:4922|ONCOTREE:JSCB|UMLS:C0334371 https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma owl:Class HGNC:18871 biolink:NamedThing MMAA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001456 biolink:NamedThing cobblestone retinal degeneration tmpte7i6ely_mondo_relaxed.owl paving stone retinal degeneration|paving stone degeneration of retina UMLS:C0154854|ICD10:H35.43|DOID:12166|ICD9:362.61|SCTID:69134001 owl:Class GO:0100002 biolink:NamedThing negative regulation of protein kinase activity by protein phosphorylation Any protein phosphorylation process that negatively regulates protein kinase activity. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010219 biolink:NamedThing xylosidase deficiency tmpte7i6ely_mondo_relaxed.owl xylosidase deficiency UMLS:C1848407|MESH:C564730|OMIM:278900 owl:Class MONDO:0002568 biolink:NamedThing tracheal stenosis Narrowing of the lumen of the trachea. tmpte7i6ely_mondo_relaxed.owl stenosis of trachea SCTID:11296007|DOID:3227|NCIT:C78646|ICD9:519.19|MESH:D014135|UMLS:C0040583 owl:Class MONDO:0000451 biolink:NamedThing primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. tmpte7i6ely_mondo_relaxed.owl primary-progressive MS|PPMS DOID:0050784|EFO:0008520|UMLS:C0751964|MESH:D020528|SCTID:428700003 owl:Class MONDO:0017523 biolink:NamedThing polydactyly of a biphalangeal thumb, unilateral tmpte7i6ely_mondo_relaxed.owl preaxial polydactyly type 1, unilateral ICD10:Q69.1|Orphanet:295144|UMLS:CN203254 owl:Class MONDO:0001583 biolink:NamedThing diabetic polyneuropathy tmpte7i6ely_mondo_relaxed.owl polyneuropathy in diabetes|diabetes mellitus with polyneuropathy MESH:D003929|UMLS:C0271680|ICD10:G63.2|SCTID:49455004|ICD9:357.2|DOID:12785 owl:Class MONDO:0006364 biolink:NamedThing peritoneal well differentiated papillary mesothelioma A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma. tmpte7i6ely_mondo_relaxed.owl peritoneal WDPM|peritoneal well differentiated papillary mesothelioma EFO:1000469|NCIT:C45661|UMLS:C1709507 owl:Class MONDO:0600010 biolink:NamedThing moderate hypophosphatasia Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0011242 biolink:NamedThing Bartter disease type 4a Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. tmpte7i6ely_mondo_relaxed.owl Bartter syndrome, type 4A|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|Bartter syndrome, neonatal, with sensorineural deafness|Bartter syndrome type 4a|BSND Bartter syndrome|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|sensorineural deafness with mild renal dysfunction|BARTS4A|Bartter disease type 4a|BSND|Bartter syndrome caused by mutation in BSND Orphanet:112|ICD10:E26.8|UMLS:C1865270|Orphanet:89938|SCTID:717791000|DOID:0110145|OMIM:602522 owl:Class MONDO:0001238 biolink:NamedThing polycythemia neonatorum A condition in which the red blood cell level is greater than established reference ranges in a newborn. tmpte7i6ely_mondo_relaxed.owl polycythemia of the newborn|polycythemia neonatorum|plethora of newborn|neonatal polycythemia UMLS:C0272153|ICD10:P61.1|ICD9:776.4|DOID:11242|NCIT:C27069|SCTID:32984002 owl:Class HGNC:29515 biolink:NamedThing PLEKHG2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032697 biolink:NamedThing neurodevelopmental disorder and language delay with or without structural brain abnormalities tmpte7i6ely_mondo_relaxed.owl NEDLBA|NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES OMIM:618354 owl:Class MONDO:0011511 biolink:NamedThing clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia tmpte7i6ely_mondo_relaxed.owl Chzam|clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia OMIM:605040|MESH:C565729|UMLS:C1857942 owl:Class MONDO:0019335 biolink:NamedThing mild hyperphenylalaninemia Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA. tmpte7i6ely_mondo_relaxed.owl non-PKU HPA|mild HPA|mHPA Orphanet:79651|ICD10:E70.1 owl:Class MONDO:0008496 biolink:NamedThing storm syndrome tmpte7i6ely_mondo_relaxed.owl storm syndrome|pleiotropic, autosomal dominant disorder affecting connective tissue MESH:C566109|GARD:0005035|UMLS:C1861452|OMIM:185069 https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome owl:Class MONDO:0016083 biolink:NamedThing FLOTCH syndrome FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. tmpte7i6ely_mondo_relaxed.owl leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity MESH:C537065|ICD10:L60.8|GARD:0002346|Orphanet:2045|UMLS:C2931411 https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome owl:Class GO:0098531 biolink:NamedThing ligand-activated transcription factor activity A DNA-binding transcription factor activity regulated by binding to a ligand and that modulates the transcription of specific gene sets. Examples include the lac and trp repressors in E.coli and steroid hormone receptors. tmpte7i6ely_mondo_relaxed.owl transcription factor activity, direct ligand regulated sequence-specific DNA binding|direct ligand regulated sequence-specific DNA binding transcription factor activity owl:Class MONDO:0007695 biolink:NamedThing hairy palms and soles tmpte7i6ely_mondo_relaxed.owl hairy palms and soles|circumscribed hairy Dysembryoplasia of palms|thickened hair-bearing skin on the palms of both hands|hairy cutaneous malformations of palms and soles OMIM:139650|GARD:0008461|MESH:C535620 https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles owl:Class HGNC:5438 biolink:NamedThing IFNG tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054852 biolink:NamedThing peeling skin syndrome 6 tmpte7i6ely_mondo_relaxed.owl PSS6|peeling skin syndrome 6 OMIM:618084 owl:Class MONDO:0011514 biolink:NamedThing tricuspid atresia Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). tmpte7i6ely_mondo_relaxed.owl tricuspid valve atresia|congenital agenesis of the tricuspid valve|tricuspid atresia|tricuspid atresia (disease)|congenital atresia of tricuspid valve tricuspid atresia (disease) Orphanet:1209|UMLS:C0243002|NCIT:C85202|MedDRA:10049767|SCTID:63042009|HP:0011662|GARD:0005274|MESH:D018785|DOID:0080169|OMIM:605067|ICD10:Q22.4 owl:Class MONDO:0016594 biolink:NamedThing superficial siderosis Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. tmpte7i6ely_mondo_relaxed.owl superficial siderosis of the central nervous system|hemosiderosis of the central nervous system|superficial hemosiderosis of the CNS|superficial hemosiderosis of the central nervous system|superficial siderosis of the CNS ICD10:I69.0|GARD:0009484|Orphanet:247245 owl:Class GO:0003842 biolink:NamedThing 1-pyrroline-5-carboxylate dehydrogenase activity Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). tmpte7i6ely_mondo_relaxed.owl 1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity|pyrroline-5-carboxylic acid dehydrogenase activity|L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity|1-pyrroline dehydrogenase|pyrroline-5-carboxylate dehydrogenase activity|delta1-pyrroline-5-carboxylate dehydrogenase activity owl:Class MONDO:0008614 biolink:NamedThing suppressor of tumorigenicity 3 tmpte7i6ely_mondo_relaxed.owl ST3|cervical carcinoma, tumor-suppressor Gene involved 1N|suppressor of tumorigenicity 3|tumor-suppressor Gene, Hela cell type UMLS:C1860658|OMIM:191181 owl:Class MONDO:0000482 biolink:NamedThing focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. tmpte7i6ely_mondo_relaxed.owl organic writer's cramp|writer's cramp|hand and arm dystonia MESH:D020821|UMLS:C0154676|SCTID:52008007|DOID:0050841|ICD9:333.84 owl:Class MONDO:0020814 biolink:NamedThing miliaria alba tmpte7i6ely_mondo_relaxed.owl SCTID:201191004 owl:Class MONDO:0015696 biolink:NamedThing Good syndrome Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. tmpte7i6ely_mondo_relaxed.owl thymoma with hypogammaglobulinemia|thymoma-immunodeficiency|immunodeficiency with thymoma|thymoma-immunodeficiency syndrome UMLS:C0221027|GARD:0008622|Orphanet:169105|DOID:0060028|SCTID:9893005 owl:Class MONDO:0003656 biolink:NamedThing hemoglobinuria A laboratory test result which indicates free hemoglobin in the urine. tmpte7i6ely_mondo_relaxed.owl NCIT:C34677|UMLS:C0019048|ICD10:R82.3|ICD9:791.2|DOID:582|MESH:D006456 May be obsoleted as it represents a finding owl:Class MONDO:0023297 biolink:NamedThing guttate psoriasis Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. tmpte7i6ely_mondo_relaxed.owl guttate psoriasis|psoriasis guttata|psoriasis guttate ICD9:696.1|GARD:0010569|ICD10:L40.4|SCTID:37042000|UMLS:C0343052 https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis owl:Class MONDO:0000487 biolink:NamedThing hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body. tmpte7i6ely_mondo_relaxed.owl ICD9:333.99|UMLS:C1960561|DOID:0050846|SCTID:427232004 owl:Class MONDO:0011097 biolink:NamedThing Axenfeld-Rieger syndrome type 2 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. tmpte7i6ely_mondo_relaxed.owl RIEG2|Rieger syndrome, type 2|Axenfeld-Rieger syndrome, type 2|Rieger syndrome type 2 OMIM:601499|MESH:C535680|DOID:0110121|Orphanet:782|ICD10:Q13.8|UMLS:C1832229 owl:Class MONDO:0020793 biolink:NamedThing oculopharyngodistal myopathy 1 tmpte7i6ely_mondo_relaxed.owl faciooculolaryngopharyngeal myopathy with distal and respiratory involvement|OPDM1|oculopharyngodistal myopathy 1|oculopharyngodistal myopathy OMIM:164310 owl:Class MONDO:0008037 biolink:NamedThing myelinated optic nerve fibers tmpte7i6ely_mondo_relaxed.owl myelinated optic nerve fibers OMIM:159500 owl:Class MONDO:0008454 biolink:NamedThing spinal intradural arachnoid cysts Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery. tmpte7i6ely_mondo_relaxed.owl spinal intradural arachnoid cysts|arachnoid cysts, spinal intradural MESH:C536878|OMIM:182990|Orphanet:2356|GARD:0009701 https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts owl:Class MONDO:0001203 biolink:NamedThing prolapse of lacrimal gland tmpte7i6ely_mondo_relaxed.owl dislocation of lacrimal gland DOID:11134|UMLS:C0155231|ICD10:H04.16|ICD9:375.16|SCTID:84777002 owl:Class MONDO:0013643 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 3 tmpte7i6ely_mondo_relaxed.owl hyperuricemic nephropathy, familial juvenile, 3|HNFJ3 OMIM:614227|UMLS:C3280216 owl:Class CHEBI:51446 biolink:NamedThing organic divalent group tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25244 biolink:NamedThing CCDC39 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0011766 biolink:NamedThing left recurrent laryngeal nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16002 biolink:NamedThing MPLKIP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024504 biolink:NamedThing enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome. tmpte7i6ely_mondo_relaxed.owl EC cell, serotonin producing pancreatic neuroendocrine tumor|pancreatic serotonin producing neoplasm|EC cell, serotonin producing pancreatic NET|enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|carcinoid tumor of the pancreas|serotonin-producing pancreatic NET|carcinoid neoplasm of the pancreas|serotonin-producing tumor of the pancreas|pancreatic serotonin producing tumor|carcinoid neoplasm of pancreas|serotonin-producing tumor of pancreas|serotonin-producing PNET|carcinoid tumor of pancreas|serotonin-producing neuroendocrine tumor of pancreas|serotonin-producing pancreatic neuroendocrine tumor|pancreatic carcinoid tumor NCIT:C4446|Orphanet:506090 owl:Class HGNC:2895 biolink:NamedThing EDAR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033547 biolink:NamedThing Li-Ghorbani-Weisz-Hubshman syndrome tmpte7i6ely_mondo_relaxed.owl LIGOWS|LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME OMIM:618974 owl:Class MONDO:0008951 biolink:NamedThing cerebrocortical degeneration of infancy tmpte7i6ely_mondo_relaxed.owl cerebrocortical degeneration of infancy OMIM:213950|UMLS:C1859257|MESH:C565863 owl:Class MONDO:0007202 biolink:NamedThing blepharoptosis-myopia-ectopia lentis syndrome This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. tmpte7i6ely_mondo_relaxed.owl dominantly inherited blepharoptosis, high myopia, and ectopia lentis|blepharoptosis myopia ectopia lentis|blepharoptosis, myopia, and ectopia lentis OMIM:110150|UMLS:C1862259|GARD:0000912|ICD10:Q15.8|MESH:C536236|Orphanet:1259|SCTID:717915004 owl:Class MONDO:0007825 biolink:NamedThing incisors, rotation of upper central tmpte7i6ely_mondo_relaxed.owl incisors, rotation of upper central OMIM:147350 owl:Class MONDO:0019109 biolink:NamedThing CANOMAD syndrome CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy. tmpte7i6ely_mondo_relaxed.owl chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-disialosyl antibodies|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies|chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome Orphanet:71279|UMLS:C2931684|SCTID:715624006|MESH:C537980|ICD10:G61.8|GARD:0009778 https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome owl:Class MONDO:0022576 biolink:NamedThing bilirubin induced brain injury in the newborn tmpte7i6ely_mondo_relaxed.owl GARD:0009243 https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn owl:Class MONDO:0020459 biolink:NamedThing unstable hemoglobin disease tmpte7i6ely_mondo_relaxed.owl SCTID:18273004|Orphanet:99139|UMLS:C0272006|ICD9:282.7 owl:Class MONDO:0030366 biolink:NamedThing cardiomyopathy, dilated, 2E tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, 2E|CMD2E OMIM:619492 owl:Class MONDO:0003029 biolink:NamedThing skin angiosarcoma A malignant vascular neoplasm arising from the skin. tmpte7i6ely_mondo_relaxed.owl zone of skin angiosarcoma (disease)|skin hemangiosarcoma|angiosarcoma (disease) of zone of skin|angiosarcoma of the skin|skin angiosarcoma|hemangiosarcoma of the skin|hemangiosarcoma of skin|angiosarcoma of skin NCIT:C4489|SCTID:254794007|DOID:4517|UMLS:C0346081 owl:Class MONDO:0003108 biolink:NamedThing cervicomedullary junction neoplasm tmpte7i6ely_mondo_relaxed.owl tumor of the cervicomedullary junction|tumor of cervicomedullary junction|neoplasm of cervicomedullary junction|cervicomedullary junction neoplasms|cervicomedullary junction tumor|neoplasm of the cervicomedullary junction DOID:4707|UMLS:C1332923|NCIT:C5423 owl:Class MONDO:0033044 biolink:NamedThing Meckel syndrome 13 tmpte7i6ely_mondo_relaxed.owl Meckel syndrome, type 13|Meckel syndrome 13|Joubert syndrome 29|MKS13 OMIM:617562|DOID:0080276|DOID:0080253|Orphanet:564 owl:Class MONDO:0009537 biolink:NamedThing lymphoid interstitial pneumonia Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment. tmpte7i6ely_mondo_relaxed.owl lymphoid interstitial pneumonia|lymphocytic interst. pneumonitis|lymphocytic interstitial pneumonia|diffuse hyperplasia of bronchus-associated lymphoid tissue|lymphocytic interstitial pneumonitis|LIP ICD10:J84.2|Orphanet:79128|MESH:C562489|UMLS:C0264511|NCIT:C27558|OMIM:247610|SCTID:44274007|ICD10:J84.1|ICD9:516.8|DOID:0050159|MedDRA:10062997 owl:Class MONDO:0005697 biolink:NamedThing cerebral toxoplasmosis Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) tmpte7i6ely_mondo_relaxed.owl meningoencephalitis due to toxoplasmosis|Toxoplasma encephalitis|encephalitis due to acquired toxoplasmosis SCTID:192701001|MESH:D016781|ICD9:130.0|EFO:0007200|DOID:10551 owl:Class MONDO:0013132 biolink:NamedThing hereditary spastic paraplegia 36 Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. tmpte7i6ely_mondo_relaxed.owl SPG36|hereditary spastic paraplegia type 36|autosomal dominant spastic paraplegia type 36|autosomal dominant spastic paraplegia 36|spastic paraplegia 36, autosomal dominant DOID:0110787|ICD10:G11.4|SCTID:723819007|OMIM:613096|Orphanet:320365|UMLS:C4510078|UMLS:C2936879|MESH:C567930 owl:Class MONDO:0006916 biolink:NamedThing postcholecystectomy syndrome Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. tmpte7i6ely_mondo_relaxed.owl ICD9:576.0|SCTID:90782003|MESH:D017562|DOID:9740|UMLS:C0152099|EFO:1001117|ICD10:K91.5 owl:Class MONDO:0014544 biolink:NamedThing osteogenesis imperfecta type 16 An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11. tmpte7i6ely_mondo_relaxed.owl chromosome 11p11.2 deletion syndrome 91.3-KB|chromosome 11P11.2 deletion syndrome, 91.3-Kb|osteogenesis imperfecta, type 16|OI, type 16|osteogenesis imperfecta type XVI|OI16|osteogenesis imperfecta, type XVI Orphanet:216812|ICD10:Q78.0|UMLS:C4015610|DOID:0110345|OMIM:616229 owl:Class MONDO:0019766 biolink:NamedThing X-linked intellectual disability, Porteous type tmpte7i6ely_mondo_relaxed.owl Orphanet:93945|UMLS:CN206701 owl:Class CHEBI:38496 biolink:NamedThing electron-transport chain inhibitor tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:186537 biolink:NamedThing Marburgvirus tmpte7i6ely_mondo_relaxed.owl Marburg-like viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012244 biolink:NamedThing prostate cancer, hereditary, 5 tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, 5|HPC5|prostate cancer, hereditary, type 5 Orphanet:1331|MESH:C563744|UMLS:C1836436|OMIM:609299 owl:Class MONDO:0008639 biolink:NamedThing vascular helix of umbilical cord tmpte7i6ely_mondo_relaxed.owl vascular helix of umbilical cord OMIM:192300 owl:Class MONDO:0005314 biolink:NamedThing relapsing-remitting multiple sclerosis The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpte7i6ely_mondo_relaxed.owl RRMS|Relapsing-remitting MS UMLS:C0751967|DOID:2378|EFO:0003929|MESH:D020529|SCTID:426373005 owl:Class MONDO:0022794 biolink:NamedThing chromosome 8 deletion A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. tmpte7i6ely_mondo_relaxed.owl Deletions of chromosome 8|Anomaly of chromosome pair 8|chromosome 8 deletion|loss of chromosome 8|del(8) 2022-04-01 GARD:0012070 This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be https://github.com/monarch-initiative/mondo/issues/3477 (chromosome 8 disorder) and MONDO:0700035 (monosomy chromosome 8). owl:Class MONDO:0018813 biolink:NamedThing high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement tmpte7i6ely_mondo_relaxed.owl Orphanet:480541 owl:Class GO:0005497 biolink:NamedThing androgen binding Binding to an androgen, a male sex hormone. tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005331 biolink:NamedThing mesonephric renal vesicle tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0012351 biolink:NamedThing urachal lumen tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004022 biolink:NamedThing parasagittal meningioma A meningioma that affects the superior sagittal sinus and invades the parasagittal angle. tmpte7i6ely_mondo_relaxed.owl NCIT:C4960|MESH:D008579|UMLS:C0751304|DOID:6869 owl:Class NCBITaxon:487 biolink:NamedThing Neisseria meningitidis tmpte7i6ely_mondo_relaxed.owl Neisseria weichselbaumii|Micrococcus meningitidis|Micrococcus intracellularis|Micrococcus meningitidis cerebrospinalis|Diplokokkus intracellularis meningitidis GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012493 biolink:NamedThing restless legs syndrome, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl RLS 4|restless legs syndrome, susceptibility to, 4|RLS4 GARD:0010271|OMIM:610439 owl:Class MONDO:0023129 biolink:NamedThing Fara Chlupackova syndrome tmpte7i6ely_mondo_relaxed.owl familial oto-facio-cervical dysmorphia GARD:0002273|MESH:C537074|UMLS:C2931416 https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome owl:Class MONDO:0024386 biolink:NamedThing large cell lung carcinoma, clear cell variant A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen. tmpte7i6ely_mondo_relaxed.owl clear cell carcinoma of the lung, large cell type|clear cell lung carcinoma, large cell type|large cell lung carcinoma, clear cell variant|clear cell carcinoma of the lung|clear cell carcinoma of lung, large cell type NCIT:C4451|ONCOTREE:CCLC|UMLS:C1707407 owl:Class MONDO:0030862 biolink:NamedThing COACH syndrome 3 tmpte7i6ely_mondo_relaxed.owl COACH3 OMIM:619113 owl:Class MONDO:0003726 biolink:NamedThing apocrine adenosis of breast Breast adenosis characterized by the presence of extensive apocrine metaplasia. tmpte7i6ely_mondo_relaxed.owl apocrine adenosis of the breast|breast apocrine adenosis|apocrine adenosis of breast UMLS:C1332314|NCIT:C5198|DOID:5999 owl:Class MONDO:0030867 biolink:NamedThing thrombocytopenia 7 tmpte7i6ely_mondo_relaxed.owl THC7|thrombocytopenia 7|Thrombocytopenia, Autosomal Dominant, 7 OMIM:619130 owl:Class MONDO:0007717 biolink:NamedThing hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain tmpte7i6ely_mondo_relaxed.owl HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain UMLS:C1840647|OMIM:142309 owl:Class MONDO:0008781 biolink:NamedThing juvenile amyotrophic lateral sclerosis with dementia A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis, juvenile, with dementia|ALS-dementia complex|ALS-dementia Complex DOID:0110067|OMIM:205200|MESH:C565956|UMLS:C1859806 owl:Class NCBITaxon:1980491 biolink:NamedThing Sin Nombre orthohantavirus tmpte7i6ely_mondo_relaxed.owl Sin Nombre virus|Sin Nombre hantavirus GC_ID:1 NCBITaxon:37705 ncbi_taxonomy owl:Class MONDO:0019901 biolink:NamedThing non-distal monosomy 20q tmpte7i6ely_mondo_relaxed.owl non-distal monosomy type 20q|non-distal deletion 20q|non-telomeric monosomy 20q ICD10:Q93.5|Orphanet:96164 owl:Class MONDO:0010082 biolink:NamedThing subaortic stenosis-short stature syndrome tmpte7i6ely_mondo_relaxed.owl Onat syndrome|subaortic stenosis short stature syndrome|subaortic stenosis--short stature syndrome GARD:0000405|OMIM:271960|UMLS:C0795947|MESH:C537749|Orphanet:3191 https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome owl:Class MONDO:0023650 biolink:NamedThing littoral cell angioma of the spleen Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies. tmpte7i6ely_mondo_relaxed.owl littoral cell angioma UMLS:C1627365|SCTID:418040002|MESH:C537031|GARD:0009714 https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen owl:Class MONDO:0007516 biolink:NamedThing ectrodactyly and ectodermal dysplasia without cleft lip/palate tmpte7i6ely_mondo_relaxed.owl EEC syndrome without cleft Lip/palate|ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate MESH:C565065|Orphanet:1888|OMIM:129810|UMLS:C1851849 owl:Class MONDO:0032726 biolink:NamedThing combined oxidative phosphorylation deficiency 39 tmpte7i6ely_mondo_relaxed.owl COXPD39|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 DOID:0111475|OMIM:618397|Orphanet:565624 owl:Class MONDO:0006863 biolink:NamedThing myxosarcoma An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation. tmpte7i6ely_mondo_relaxed.owl myxosarcoma|myxosarcoma, malignant|myxosarcoma (morphologic abnormality) EFO:1001056|DOID:4136|ICDO:8840/3|NCIT:C3255|UMLS:C0027155|MESH:D009236 owl:Class CHEBI:38975 biolink:NamedThing methylbenzene Any alkylbenzene that is benzene substituted with one or more methyl groups. tmpte7i6ely_mondo_relaxed.owl methylbenzenes owl:Class MONDO:0032875 biolink:NamedThing short stature and microcephaly with genital anomalies tmpte7i6ely_mondo_relaxed.owl SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES|SSMGA OMIM:618702 owl:Class MONDO:0011158 biolink:NamedThing autoimmune lymphoproliferative syndrome type 1 tmpte7i6ely_mondo_relaxed.owl autoimmune lymphoproliferative syndrome, type 1A|autoimmune lymphoproliferative syndrome|Canale-Smith syndrome|ALPS|autoimmune lymphoproliferative syndrome type 1|autoimmune lymphoproliferative syndrome, type 1B|autoimmune lymphoproliferative syndrome, type I, autosomal dominant|autoimmune lymphoproliferative syndrome, type I, autosomal recessive SCTID:702444009|OMIM:601859|Orphanet:3261|ICD9:279.41|UMLS:C1328840 owl:Class MONDO:0013057 biolink:NamedThing psoriasis 12, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS12|psoriasis 12, susceptibility to OMIM:612950|DOID:0111291 owl:Class MONDO:0012598 biolink:NamedThing fibromatosis, gingival, 4 tmpte7i6ely_mondo_relaxed.owl gingival fibromatosis, 4|fibromatosis gingival, hereditary, 4|HGF4|GGF4|hereditary gingival fibromatosis, 4|fibromatosis, gingival, hereditary, 4|GINGF4|fibromatosis, gingival, 4 OMIM:611010|MESH:C567028|GARD:0002475|Orphanet:2024 owl:Class MONDO:0044141 biolink:NamedThing panic disorder without agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. tmpte7i6ely_mondo_relaxed.owl panic disorder without agoraphobia SCTID:56576003|NCIT:C97193|EFO:1001906 owl:Class MONDO:0013239 biolink:NamedThing hereditary spastic paraplegia 41 Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spastic paraplegia 41|hereditary spastic paraplegia type 41|spastic paraplegia 41, autosomal dominant|autosomal dominant spastic paraplegia type 41|SPG41 ICD10:G11.4|OMIM:613364|SCTID:763069002|DOID:0110793|UMLS:CN203988|Orphanet:320355 owl:Class MONDO:0012618 biolink:NamedThing intellectual disability, autosomal recessive 10 tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive 20|mental retardation, autosomal recessive 10|MRT10|intellectual disability, autosomal recessive 20|intellectual disability, autosomal recessive 10 Orphanet:88616|UMLS:C1970194|MESH:C567013|OMIM:611096 owl:Class MONDO:0011353 biolink:NamedThing atrial septal defect, secundum, with various cardiac and Noncardiac defects tmpte7i6ely_mondo_relaxed.owl atrial septal defect, secundum, with various cardiac and Noncardiac defects OMIM:603642|UMLS:C1863648|MESH:C566351 owl:Class MONDO:0007438 biolink:NamedThing dentin dysplasia-sclerotic bones syndrome Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. tmpte7i6ely_mondo_relaxed.owl dentin dysplasia with sclerotic bones|dentin dysplasia sclerotic bones|sclerotic bones with dentin dysplasia OMIM:125440|ICD10:K00.5|GARD:0001808|Orphanet:99792|UMLS:C1852201|MESH:C538213 owl:Class MONDO:0018735 biolink:NamedThing multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas. tmpte7i6ely_mondo_relaxed.owl DKFZp434L132|MLT|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele|MALT1 wt allele|cutaneovisceral angiomatosis-thrombocytopenia syndrome|multifocal lymphangioendotheliomatosis with thrombocytopenia|MLT1 UMLS:CN242151|ICD10:D18.1|NCIT:C60672|Orphanet:464321|GARD:0010467 owl:Class UBERON:0016535 biolink:NamedThing white matter of occipital lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100219 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant tmpte7i6ely_mondo_relaxed.owl GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2 OMIM:618985 http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:444 biolink:NamedThing Legionellaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:434652 ncbi_taxonomy owl:Class HGNC:21061 biolink:NamedThing SERAC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001454 biolink:NamedThing Blessig's cysts tmpte7i6ely_mondo_relaxed.owl Microcystoid degeneration of retina|Iwanoff's cysts|Blessig cysts|Microcystoid retinal degeneration UMLS:C0154855|ICD9:362.62|ICD10:H35.42|SCTID:37075008|DOID:12164 owl:Class MONDO:0044618 biolink:NamedThing CLCN4-related X-linked intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:485350 owl:Class MONDO:0004770 biolink:NamedThing exophthalmos The anterior displacement of the eye within the orbit, giving a bulging appearance. tmpte7i6ely_mondo_relaxed.owl exophthalmos (disease)|exophthalmos|proptosis exophthalmos (disease) NCIT:C118763|NCIT:C87114|DOID:9370|ICD9:376.30|UMLS:C0015300|HP:0000520|MESH:D005094|SCTID:18265008|ICD10:H05.20 owl:Class MONDO:0022810 biolink:NamedThing Combarros Calleja Leno syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001449 https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome owl:Class MONDO:0023178 biolink:NamedThing fragile X syndrome type 1 tmpte7i6ely_mondo_relaxed.owl GARD:0002366 https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1 owl:Class MONDO:0009502 biolink:NamedThing pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. tmpte7i6ely_mondo_relaxed.owl dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|pyruvate dehydrogenase E2 deficiency|PDHDD|pyruvate dehydrogenase complex component E2 deficiency|lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Orphanet:765|MESH:C565448|Orphanet:79244|OMIM:245348|ICD10:E74.4|UMLS:C1855565 owl:Class MONDO:0017180 biolink:NamedThing 10q22.3q23.3 microduplication syndrome tmpte7i6ely_mondo_relaxed.owl trisomy 10q22.3q23.3|dup(10)(q22.3q23.3) UMLS:CN202619|ICD10:Q92.3|Orphanet:276422 owl:Class MONDO:0014948 biolink:NamedThing short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay tmpte7i6ely_mondo_relaxed.owl short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|SRMMD OMIM:617164|UMLS:C4310686 owl:Class HGNC:2917 biolink:NamedThing DLX4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014355 biolink:NamedThing cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis tmpte7i6ely_mondo_relaxed.owl cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis|DCWHKTA OMIM:615821|Orphanet:65282|UMLS:C4014393 owl:Class MONDO:0018221 biolink:NamedThing immune hydrops fetalis Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. tmpte7i6ely_mondo_relaxed.owl immune fetal edema|immune HF|immune fetal hydrops|IHF SCTID:15539009|ICD10:P56.0|NCIT:C111904|ICD9:773.3|UMLS:C0455990|Orphanet:364013 owl:Class MONDO:0019396 biolink:NamedThing collagen type III glomerulopathy Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. tmpte7i6ely_mondo_relaxed.owl Collagenofibrotic glomerulopathy SCTID:708127008|Orphanet:84087|UMLS:C3872695|ICD9:583.89|ICD10:N07.6|UMLS:CN206095 owl:Class MONDO:0016103 biolink:NamedThing isolated asymptomatic elevation of creatine phosphokinase Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. tmpte7i6ely_mondo_relaxed.owl isolated asymptomatic hyperCKemia|isolated hyperCKemia|hyperCKmia|idiopathic asymptomatic hyperCKemia Orphanet:206599|NCIT:C148327|DOID:0111338 owl:Class MONDO:0015985 biolink:NamedThing bone dysplasia, Azouz type Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. tmpte7i6ely_mondo_relaxed.owl bone dysplasia Azouz type GARD:0000920|Orphanet:1844|SCTID:720566004|UMLS:C4303993|ICD10:Q78.4 https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type owl:Class MONDO:0011695 biolink:NamedThing melanoma, uveal, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl melanoma, uveal, susceptibility to, 1|melanoma, uveal, susceptibility to, type 1|UVM1 OMIM:606660|Orphanet:39044 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class OBO:MFOMD_0000143 biolink:NamedThing major depressive episode The essential feature is a period of at least 2 weeks during which there is either depressed mood or the loss of interest or pleasure in nearly all activities. In children and adolescents, the mood may be irritable rather than sad. DSM-IV-TR (american Psychiatric Association) tmpte7i6ely_mondo_relaxed.owl The individuals must also experience at least four additional symptoms drawn from a list that includes changes in appetite or weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. DSM-IV-TR (american Psychiatric Association) owl:Class MONDO:0019177 biolink:NamedThing odontoleukodystrophy Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl leukodystrophy with oligodontia|dentoleukoencephalopathy OMIM:607694|ICD10:E75.2|GARD:0009632|SCTID:722064003|Orphanet:77295 owl:Class NCBITaxon:2560066 biolink:NamedThing Matonaviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007715 biolink:NamedThing hemolytic poikilocytic anemia due to reduced ankyrin binding sites tmpte7i6ely_mondo_relaxed.owl hemolytic poikilocytic anemia due to reduced ankyrin binding sites UMLS:C1841622|MESH:C564197|OMIM:141700 owl:Class MONDO:0008366 biolink:NamedThing red cell permeability defect tmpte7i6ely_mondo_relaxed.owl elliptocytosis with transverse slitlike changes|red cell permeability defect OMIM:179650|UMLS:C1867340 owl:Class MONDO:0005716 biolink:NamedThing contagious pleuropneumonia A pleuropneumonia of cattle and goats caused by species of mycoplasma. tmpte7i6ely_mondo_relaxed.owl EFO:0007221|MESH:D011002|UMLS:C0032243 owl:Class MONDO:0010374 biolink:NamedThing retinitis pigmentosa 34 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa type 34|retinitis pigmentosa 34|RP34|RP 34 ICD10:H35.5|OMIM:300605|GARD:0010390|UMLS:C1845104|MESH:C564475|DOID:0110417 https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34 owl:Class NCBITaxon:32594 biolink:NamedThing Babesiidae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:575 biolink:NamedThing AP4S1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009271 biolink:NamedThing geroderma osteodysplastica Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. tmpte7i6ely_mondo_relaxed.owl geroderma osteodysplastica|Gerodermia osteodysplastica|Geroderma osteodysplasticum|GO|Walt Disney dwarfism|GERODERMA OSTEODYSPLASTICUM GARD:0000413|ICD10:Q82.8|DOID:0111266|SCTID:254116003|Orphanet:2078|MESH:C537799|ICD9:759.89|UMLS:C0432255|OMIM:231070 https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica owl:Class MONDO:0006593 biolink:NamedThing pelvic lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. tmpte7i6ely_mondo_relaxed.owl Excess of mature unencapsulated fatty tissue in the pelvis|pelvic lipomatosis|pelvic lipomatosis (morphologic abnormality) MESH:C535549|EFO:1000748|UMLS:C0406608|GARD:0007350|NCIT:C27486|DOID:3927 https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis owl:Class MONDO:0002569 biolink:NamedThing gastric dilatation Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation. tmpte7i6ely_mondo_relaxed.owl stomach dilatation DOID:3229|UMLS:C0038353|MESH:D013271 owl:Class MONDO:0030997 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 37 tmpte7i6ely_mondo_relaxed.owl MC1DN37|mitochondrial complex 1 deficiency, nuclear type 37 OMIM:619272 owl:Class MONDO:0024973 biolink:NamedThing pneumonia, atypical interstitial, of cattle A cattle disease of uncertain cause, probably an allergic reaction. tmpte7i6ely_mondo_relaxed.owl Adenomatoses, bovine pulmonary|emphysema, acute bovine pulmonary|pulmonary Adenomatoses, bovine|pulmonary adenomatosis, bovine|adenomatosis, pulmonary, bovine|bovine pulmonary adenomatosis|Fog fever|fever, Fog|atypical interstitial pneumonia of cattle|bovine pulmonary Adenomatoses|adenomatosis, bovine pulmonary MESH:D011016 owl:Class MONDO:0011111 biolink:NamedThing horns in sheep tmpte7i6ely_mondo_relaxed.owl horns in sheep|Ho 2022-05-01 OMIM:601563 Reason: out of scope. Term to consider: none owl:Class MONDO:0030910 biolink:NamedThing intellectual disability, autosomal dominant 45 tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 45|mental retardation, autosomal dominant 45|MRD45|autosomal dominant intellectual disability 45|intellectual disability, autosomal dominant 45 DOID:0080236|UMLS:CN368509|OMIM:617600 owl:Class MONDO:0002684 biolink:NamedThing atypical choroid plexus papilloma A choroid plexus papilloma characterized by increased mitotic activity. tmpte7i6ely_mondo_relaxed.owl atypical choroid plexus papilloma|ACPP|atypical choroid plexus papilloma (morphologic abnormality)|atypical papilloma of choroid plexus|atypical CPP Orphanet:251902|ICDO:9390/1|DOID:3544|UMLS:C1266176|ICD10:C71.5|NCIT:C53686|ONCOTREE:ACPP owl:Class MONDO:0008309 biolink:NamedThing primary release disorder of platelets tmpte7i6ely_mondo_relaxed.owl bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets GARD:0010357|UMLS:C1867770|OMIM:176630|MESH:C566759 https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets owl:Class MONDO:0022913 biolink:NamedThing cutler bass Romshe syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001646 https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome owl:Class NCBITaxon:116704 biolink:NamedThing Eubrachyura tmpte7i6ely_mondo_relaxed.owl GC_ID:1 NCBITaxon:6795 ncbi_taxonomy owl:Class NCBITaxon:27592 biolink:NamedThing Bovinae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34607 biolink:NamedThing Amblyomma cajennense tmpte7i6ely_mondo_relaxed.owl Acarus cajennensis|Cayenne tick GC_ID:1 NCBITaxon:59639 ncbi_taxonomy owl:Class MONDO:0042915 biolink:NamedThing Schmitt-Gillenwater-Kelly syndrome tmpte7i6ely_mondo_relaxed.owl Schmitt Gillenwater Kelly syndrome|radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema GARD:0000258 owl:Class MONDO:0012283 biolink:NamedThing cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss tmpte7i6ely_mondo_relaxed.owl cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss MESH:C536427|GARD:0010063|UMLS:C1836120|OMIM:609466 https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss owl:Class MONDO:0017516 biolink:NamedThing brachydactyly of fingers, bilateral tmpte7i6ely_mondo_relaxed.owl short fingers, bilateral Orphanet:295130|ICD10:Q71.8 owl:Class MONDO:0013728 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 2 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene. tmpte7i6ely_mondo_relaxed.owl pregnancy loss, recurrent, susceptibility caused by mutation in F2|RPRGL2|F2 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, 2|pregnancy loss, recurrent, susceptibility to, type 2 OMIM:614390 owl:Class MONDO:0012024 biolink:NamedThing retinitis pigmentosa 26 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene. tmpte7i6ely_mondo_relaxed.owl RP26|retinitis pigmentosa 26|RP 26|retinitis pigmentosa caused by mutation in CERKL|retinitis pigmentosa type 26|CERKL retinitis pigmentosa MESH:C564249|UMLS:C1842127|GARD:0010397|DOID:0110368|OMIM:608380|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26 owl:Class MONDO:0020347 biolink:NamedThing acute inflammatory demyelinating polyradiculoneuropathy An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS). tmpte7i6ely_mondo_relaxed.owl acute idiopathic demyelinating polyneuropathy|acute inflammatory demyelinating polyradiculopathy|acute inflammatory polyneuropathy|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|AIDP|Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form OMIM:139393|Orphanet:98916|NCIT:C116926|UMLS:CN207194|ICD10:G61.0 Editor note: check this https://github.com/monarch-initiative/mondo/issues/3467#issuecomment-894502830 owl:Class MONDO:0008017 biolink:NamedThing hereditary mucoepithelial dysplasia A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. tmpte7i6ely_mondo_relaxed.owl HMD|Urban-Schosser-Spohn syndrome|mucoepithelial dysplasia, hereditary OMIM:158310|ICD9:478.79|Orphanet:1839|GARD:0005427|MESH:C536476|SCTID:403442005 https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia owl:Class MONDO:0023106 biolink:NamedThing Fairbank disease tmpte7i6ely_mondo_relaxed.owl epiphyseal dysplasia, ribbing type|epiphyseal dysplasia Fairbank type|Fairbank multiple epiphyseal dysplasia|dysplasia epiphysealis multiplex|epiphyseal dysplasia, Fairbank type MESH:C536393 owl:Class MONDO:0017473 biolink:NamedThing patella aplasia/hypoplasia, bilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295041|ICD10:Q74.1 owl:Class HP:0030191 biolink:NamedThing Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. tmpte7i6ely_mondo_relaxed.owl Abnormal PNS synaptic transmission UMLS:C4021046 human_phenotype owl:Class HGNC:10923 biolink:NamedThing SLC16A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010780 biolink:NamedThing mitochondrial myopathy with reversible cytochrome C oxidase deficiency tmpte7i6ely_mondo_relaxed.owl reversible infantile respiratory chain deficiency|MMIT|Cox deficiency myopathy, infantile, transient|benign COX deficiency|respiratory chain deficiency, infantile, transient|mitochondrial myopathy with reversible complex IV deficiency|reversible infantile cytochrome C oxidase deficiency|infantile reversible cytochrome C oxidase deficiency myopathy|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency|mitochondrial myopathy, infantile, transient|mitochondrial myopathy with reversible COX deficiency UMLS:C3151898|Orphanet:254864|ICD10:G71.3|OMIM:500009 owl:Class MONDO:0030018 biolink:NamedThing autoinflammation with episodic fever and lymphadenopathy tmpte7i6ely_mondo_relaxed.owl AIEFL|Cria Syndrome|AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY|autoinflammation with episodic fever and lymphadenopathy|Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome OMIM:618852 owl:Class MONDO:0018808 biolink:NamedThing Caroli syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:480520|UMLS:CN776859 owl:Class HGNC:4084 biolink:NamedThing GABRD tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20371 biolink:NamedThing NDUFA11 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0004715 biolink:NamedThing annulus fibrosus disci intervertebralis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100063 biolink:NamedThing Pericytoma with t(7;12) A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation. tmpte7i6ely_mondo_relaxed.owl Pericytoma t(7;12) 2018-11-09 22:50:48+00:00 owl:Class MONDO:0010871 biolink:NamedThing succinic acidemia tmpte7i6ely_mondo_relaxed.owl succinic acidemia UMLS:C1838243|Orphanet:936|OMIM:600335|MESH:C563952 owl:Class MONDO:0020317 biolink:NamedThing acute myeloid leukemia with 11q23 abnormalities An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. tmpte7i6ely_mondo_relaxed.owl acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|AML with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with MLL abnormalities|AML with 11q23 abnormalities|acute myeloid leukemia with 11q23 (MLL) abnormalities SCTID:444911000|Orphanet:98831|ICD10:C92.6|ICDO:9897/3|NCIT:C82403 owl:Class MONDO:0030926 biolink:NamedThing spermatogenic failure 51 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 51|SPGF51 OMIM:619177 owl:Class MONDO:0100281 biolink:NamedThing macroglobulinemia, Waldenstrom, 1 tmpte7i6ely_mondo_relaxed.owl macroglobulinemia, waldenstrom, susceptibility to, 1|macroglobulinemia, Waldenstrom, somatic|WM1 OMIM:153600 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019763 biolink:NamedThing laryngotracheoesophageal cleft type 3 Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. tmpte7i6ely_mondo_relaxed.owl LTEC III|LTEC3|laryngo-tracheo-esophageal cleft type 3 UMLS:CN206698|ICD10:Q32.1|OMIM:215800|Orphanet:93940 owl:Class MONDO:0002962 biolink:NamedThing epidermolytic acanthoma A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis. tmpte7i6ely_mondo_relaxed.owl UMLS:C1333414|NCIT:C27516|DOID:4323 owl:Class MONDO:0022675 biolink:NamedThing cataract skeletal anomalies tmpte7i6ely_mondo_relaxed.owl GARD:0001158 https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies owl:Class MONDO:0500000 biolink:NamedThing episodic angioedema with eosinophilia A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns. tmpte7i6ely_mondo_relaxed.owl Gleich's syndrome|Gleich syndrome|EAE GARD:0013029 Emily Hartley owl:Class GO:0042483 biolink:NamedThing negative regulation of odontogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. tmpte7i6ely_mondo_relaxed.owl inhibition of odontogenesis|downregulation of odontogenesis|negative regulation of tooth development|down-regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|down regulation of odontogenesis owl:Class MONDO:0001663 biolink:NamedThing hole retinal cyst tmpte7i6ely_mondo_relaxed.owl macular cyst or hole|macular cyst, hole, or pseudohole of retina|macular pseudohole retinal cyst SCTID:1079004|ICD9:362.54|ICD10:H35.34|DOID:13214|UMLS:C1261331 owl:Class MONDO:0010938 biolink:NamedThing T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. tmpte7i6ely_mondo_relaxed.owl SCID, T cell-negative, B cell-positive, NK cell-negative|severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|T-B+ severe combined immunodeficiency due to JAK3 deficiency|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency|T-B+ SCID due to JAK3 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE UMLS:C1833275|Orphanet:35078|MESH:C563440|ICD10:D81.2|SCTID:718107000|OMIM:600802|UMLS:C4273742 owl:Class CL:1000849 biolink:NamedThing kidney distal convoluted tubule epithelial cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001056 cell owl:Class MONDO:0024229 biolink:NamedThing miliaria crystallina A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum. tmpte7i6ely_mondo_relaxed.owl DOID:0070321|ICD10CM:L74.1 owl:Class HGNC:10959 biolink:NamedThing SLCO1B1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000891 biolink:NamedThing mixed fibrolamellar hepatocellular carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. tmpte7i6ely_mondo_relaxed.owl DOID:0080182 owl:Class HP:0012535 biolink:NamedThing Abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. tmpte7i6ely_mondo_relaxed.owl Abnormality of neurotransmitter metabolism UMLS:C4021083 peter 2013-12-15T10:12:31Z human_phenotype owl:Class MONDO:0054776 biolink:NamedThing epilepsy, familial focal, with variable foci 4 tmpte7i6ely_mondo_relaxed.owl FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4 OMIM:617935|UMLS:CN244552 owl:Class MONDO:0011212 biolink:NamedThing sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth tmpte7i6ely_mondo_relaxed.owl sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth UMLS:C1865645|OMIM:602340|MESH:C566560 owl:Class MONDO:0018421 biolink:NamedThing autosomal recessive spastic paraplegia type 69 tmpte7i6ely_mondo_relaxed.owl SPG69 ICD10:G11.4|Orphanet:401830|UMLS:CN226128 owl:Class MONDO:0008881 biolink:NamedThing kyphomelic dysplasia Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. tmpte7i6ely_mondo_relaxed.owl congenital bowing with short bones|bowing, congenital, with short bones|kyphomelic dysplasia Orphanet:1801|ICD9:733.29|SCTID:254096001|GARD:0010149|OMIM:211350|UMLS:C0432239|MESH:C538128 https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia owl:Class GO:0045668 biolink:NamedThing negative regulation of osteoblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. tmpte7i6ely_mondo_relaxed.owl downregulation of osteoblast differentiation|inhibition of osteoblast differentiation|down-regulation of osteoblast differentiation|down regulation of osteoblast differentiation owl:Class MONDO:0016832 biolink:NamedThing distal 7q11.23 microduplication syndrome Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. tmpte7i6ely_mondo_relaxed.owl distal dup(7)(q11.23)|distal trisomy 7q11.23|Dup7q11.23D ICD10:Q92.3|Orphanet:261102|UMLS:CN202160 owl:Class GO:0018215 biolink:NamedThing protein phosphopantetheinylation The modification of a protein amino acid by phosphopantetheinylation. tmpte7i6ely_mondo_relaxed.owl protein amino acid phosphopantetheinylation owl:Class MONDO:0006554 biolink:NamedThing granuloma annulare Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. tmpte7i6ely_mondo_relaxed.owl granuloma annulare|Granulome annulare DOID:3777|NCIT:C3470|EFO:1000704|ICD10:L92.0|MESH:D016460|SCTID:65508009|UMLS:C0085074|ICD9:709.8|Wikipedia:Granuloma_annulare|GARD:0006546 https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare owl:Class MONDO:0035121 biolink:NamedThing myeloid/lymphoid neoplasm associated with JAK2 rearrangement tmpte7i6ely_mondo_relaxed.owl myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542|NCIT:C129853 owl:Class MONDO:0020384 biolink:NamedThing Niemann-Pick disease type E Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. tmpte7i6ely_mondo_relaxed.owl Orphanet:99022|OMIM:607616|ICD10:E75.2|SCTID:73399005 owl:Class MONDO:0013313 biolink:NamedThing ectodermal dysplasia-cutaneous syndactyly syndrome tmpte7i6ely_mondo_relaxed.owl EDSS2|ectodermal dysplasia-syndactyly syndrome 2|EDCS OMIM:613576|UMLS:C3150809|Orphanet:247827|ICD10:Q82.8 owl:Class MONDO:0003170 biolink:NamedThing gliofibroma An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). tmpte7i6ely_mondo_relaxed.owl gliofibroma (morphologic abnormality) NCIT:C5419|ICDO:9442/1|DOID:4856|UMLS:C1266178 owl:Class MONDO:0022900 biolink:NamedThing athyreotic congenital hypothyroidism Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) tmpte7i6ely_mondo_relaxed.owl cretinism athyreotic GARD:0001610 https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic owl:Class MONDO:0017513 biolink:NamedThing split foot, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295124|ICD10:Q72.7 owl:Class NCBITaxon:630 biolink:NamedThing Yersinia enterocolitica tmpte7i6ely_mondo_relaxed.owl Bacterium enterocoliticum GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032828 biolink:NamedThing spastic tetraplegia and axial hypotonia, progressive tmpte7i6ely_mondo_relaxed.owl STAHP|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE|Sod1 Deficiency, Autosomal Recessive OMIM:618598 owl:Class MONDO:0009643 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type A tmpte7i6ely_mondo_relaxed.owl molybdenum cofactor deficiency, complementation group type a|MOCOD type A|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|MOCODA|molybdenum cofactor deficiency type A|molybdenum cofactor deficiency complementation group A|molybdenum cofactor deficiency, complementation group A|sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of Orphanet:99732|PMID:9731530|MESH:C565372|DOID:0111164|OMIM:252150|Orphanet:833|Orphanet:308386|UMLS:C1854988|ICD10:E72.1 owl:Class MONDO:0007151 biolink:NamedThing arms, malformation of tmpte7i6ely_mondo_relaxed.owl arms, malformation of OMIM:107900|MESH:C566258 owl:Class MONDO:0017084 biolink:NamedThing leptomyelolipoma Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present. tmpte7i6ely_mondo_relaxed.owl Orphanet:268838 owl:Class HGNC:7102 biolink:NamedThing MINPP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032725 biolink:NamedThing developmental and epileptic encephalopathy, 74 tmpte7i6ely_mondo_relaxed.owl epileptic encephalopathy, early infantile, 74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74|EIEE74|DEE74 OMIM:618396 owl:Class MONDO:0033371 biolink:NamedThing developmental and epileptic encephalopathy, 62 tmpte7i6ely_mondo_relaxed.owl DEE62|epileptic encephalopathy, early infantile, 62|EIEE62 DOID:0080420|UMLS:CN244551|OMIM:617938 owl:Class HP:0000098 biolink:NamedThing Tall stature A height above that which is expected according to age and gender norms. tmpte7i6ely_mondo_relaxed.owl Tall stature|Accelerated linear growth|Increased body height|Increased linear growth SNOMEDCT_US:248328003|UMLS:C0241240 peter 2008-02-27T02:21:00Z HP:0003515|HP:0003516|HP:0001527 human_phenotype owl:Class NCBITaxon:436491 biolink:NamedThing Theropoda tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012257 biolink:NamedThing Cerebrorenodigital syndrome tmpte7i6ely_mondo_relaxed.owl CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula Orphanet:1396|UMLS:C1836287|OMIM:609345|ICD10:Q87.8|MESH:C563731 owl:Class HGNC:9666 biolink:NamedThing PTPRC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030066 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, 5 tmpte7i6ely_mondo_relaxed.owl granulomatous disease, chronic, autosomal recessive, 5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|CGD5|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 OMIM:618935 owl:Class MONDO:0032574 biolink:NamedThing osteochondrodysplasia, brachydactyly, and overlapping malformed digits tmpte7i6ely_mondo_relaxed.owl OCBMD|OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS OMIM:618167 owl:Class MONDO:0011697 biolink:NamedThing Waardenburg syndrome type 2C A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23. tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome, type 2C|WS2C|Waardenburg syndrome type IIC OMIM:606662|UMLS:C1847722|Orphanet:895|DOID:0110951|MESH:C564684|Orphanet:3440 owl:Class NCBITaxon:122378 biolink:NamedThing Penaeus schmitti tmpte7i6ely_mondo_relaxed.owl Litopenaeus schmitti|Penaeus (Litopenaeus) schmitti|white shrimp GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017510 biolink:NamedThing adactyly of foot, bilateral tmpte7i6ely_mondo_relaxed.owl congenital absence of toes, bilateral ICD10:Q72.8|Orphanet:295118 owl:Class MONDO:0012802 biolink:NamedThing oculoauricular syndrome Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). tmpte7i6ely_mondo_relaxed.owl microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear|Schorderet-Munier-Franceschetti syndrome|OCACS|oculoauricular syndrome|oculoauricular syndrome, Schorderet type MESH:C567416|Orphanet:157962|DOID:0060482|ICD10:Q87.8|UMLS:C2677500|OMIM:612109 owl:Class MONDO:0011605 biolink:NamedThing generalized basaloid follicular hamartoma syndrome Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. tmpte7i6ely_mondo_relaxed.owl GBFHS|basaloid follicular hamartoma syndrome, generalized, autosomal dominant SCTID:766928004|Orphanet:168632|MESH:C565284|ICD10:Q82.5|OMIM:605827|UMLS:C1853919 owl:Class MONDO:0032658 biolink:NamedThing macrocephaly, acquired, with impaired intellectual development tmpte7i6ely_mondo_relaxed.owl Macrocephaly, Acquired, With Mental Retardation|MACID|MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:618286 owl:Class MONDO:0017831 biolink:NamedThing mild Canavan disease Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. tmpte7i6ely_mondo_relaxed.owl juvenile Canavan disease ICD10:E75.2|Orphanet:314918 owl:Class MONDO:0030270 biolink:NamedThing lymphatic malformation 9 tmpte7i6ely_mondo_relaxed.owl LMPHM9|lymphatic malformation 9 OMIM:619319 owl:Class MONDO:0013419 biolink:NamedThing complement component C1s deficiency A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. tmpte7i6ely_mondo_relaxed.owl C1SD|C1s deficiency|complement component C1s deficiency Orphanet:169147|OMIM:613783|MESH:C565170|UMLS:C3151078 owl:Class MONDO:0014312 biolink:NamedThing auriculocondylar syndrome 3 tmpte7i6ely_mondo_relaxed.owl AURICULOCONDYLAR syndrome 3|ARCND3|Auriculocondylar syndrome 3|Auriculocondylar syndrome type 3 Orphanet:137888|UMLS:C3810332|OMIM:615706 owl:Class MONDO:0012271 biolink:NamedThing mesoaxial synostotic syndactyly with phalangeal reduction Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly. tmpte7i6ely_mondo_relaxed.owl syndactyly Malik-Percin type|syndactyly, type 9|syndactyly type 9|MSSD|syndactyly, Malik-Percin type|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly mesoaxial synostotic with phalangeal reduction ICD10:Q70.2|OMIM:609432|MESH:C563721|ICD10:Q70.0|UMLS:C1836206|GARD:0010590|SCTID:724170007|Orphanet:157801 owl:Class MONDO:0010707 biolink:NamedThing Paine syndrome tmpte7i6ely_mondo_relaxed.owl microcephaly with spastic diplegia|Paine syndrome|Seemanova syndrome 1 OMIM:311400|GARD:0009780|UMLS:C1412041|MESH:C538101 https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome owl:Class MONDO:0001904 biolink:NamedThing polyneuropathy due to drug tmpte7i6ely_mondo_relaxed.owl ICD10:G62.0|ICD9:357.6|UMLS:C0154762|SCTID:7339009|DOID:14184 owl:Class UBERON:0009887 biolink:NamedThing interlobar vein tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018085 biolink:NamedThing umbilical cord ulceration-intestinal atresia syndrome Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. tmpte7i6ely_mondo_relaxed.owl umbilical cord ulcer with intestinal atresia|umbilical cord ulceration and intestinal atresia|umbilical ulceration and intestinal atresia MESH:C536938|UMLS:C2931371|GARD:0005403|Orphanet:3405 owl:Class MONDO:0008946 biolink:NamedThing cerebral angiopathy, dysphoric tmpte7i6ely_mondo_relaxed.owl cerebral angiopathy, dysphoric OMIM:213500|UMLS:C1859283|MESH:C565864 owl:Class MONDO:0009005 biolink:NamedThing complement component C1r/C1s deficiency Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. tmpte7i6ely_mondo_relaxed.owl complement component C1r/C1s deficiency|C1r/C1s deficiency UMLS:C3150274|NCIT:C119991|OMIM:216950|Orphanet:169147 owl:Class UBERON:0019311 biolink:NamedThing root of olfactory nerve tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2896 biolink:NamedThing DLAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004141 biolink:NamedThing melanomatosis tmpte7i6ely_mondo_relaxed.owl melanomatosis UMLS:C1334691|NCIT:C9499|DOID:7206 owl:Class MONDO:0006961 biolink:NamedThing scrapie A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions. tmpte7i6ely_mondo_relaxed.owl MESH:D012608|EFO:1001168|DOID:5434|UMLS:C0036457 owl:Class UBERON:0011273 biolink:NamedThing nail of manual digit 1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11766 biolink:NamedThing TGFB1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010692 biolink:NamedThing nuclear ribonucleic acid tmpte7i6ely_mondo_relaxed.owl nuclear ribonucleic acid|nRNA OMIM:310650 owl:Class MONDO:0030456 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 27 tmpte7i6ely_mondo_relaxed.owl LGMDR27 OMIM:619566 owl:Class MONDO:0011556 biolink:NamedThing basal cell carcinoma, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl BCC1|basal cell carcinoma, multiple|basal cell carcinoma, nonsyndromic|multiple basal cell carcinoma|basal cell carcinoma, susceptibility to, 1 OMIM:605462|GARD:0009303 owl:Class MONDO:0018249 biolink:NamedThing finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.2|UMLS:CN204822|Orphanet:369979 owl:Class CHEBI:84087 biolink:NamedThing human urinary metabolite Any metabolite (endogenous or exogenous) found in human urine samples. tmpte7i6ely_mondo_relaxed.owl human urinary metabolites owl:Class MONDO:0011016 biolink:NamedThing type 1 diabetes mellitus 11 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31. tmpte7i6ely_mondo_relaxed.owl IDDM11|insulin-dependent diabetes mellitus 11|diabetes mellitus, insulin-dependent, 11 DOID:0110750|MESH:C563371|OMIM:601208|UMLS:C1832605|ICD10:E10 owl:Class MONDO:0032786 biolink:NamedThing Noonan syndrome 11 tmpte7i6ely_mondo_relaxed.owl NOONAN SYNDROME 11|NS11 OMIM:618499 owl:Class HGNC:2384 biolink:NamedThing CRY1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007370 biolink:NamedThing coracoclavicular joint, anomalous tmpte7i6ely_mondo_relaxed.owl coracoclavicular joint, anomalous OMIM:121350|MESH:C565161 owl:Class MONDO:0006820 biolink:NamedThing kidney cortex necrosis Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. tmpte7i6ely_mondo_relaxed.owl renal cortical necrosis EFO:1001003|ICD10:N17.1|MedDRA:10023414|DOID:2973|SCTID:444691002|ICD9:583.6|MESH:D007673 owl:Class MONDO:0011659 biolink:NamedThing heterotaxy, visceral, 3, autosomal tmpte7i6ely_mondo_relaxed.owl HTX3|heterotaxy, visceral, 3, autosomal UMLS:C1853444|OMIM:606325|MESH:C565237|Orphanet:450 owl:Class MONDO:0033644 biolink:NamedThing microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 tmpte7i6ely_mondo_relaxed.owl MRCS1 OMIM:619082 owl:Class MONDO:0013079 biolink:NamedThing primary biliary cholangitis 2 tmpte7i6ely_mondo_relaxed.owl biliary cirrhosis, primary, 2|PBC2 OMIM:613007|UMLS:C2751696|Orphanet:186|MESH:C567817 owl:Class MONDO:0009089 biolink:NamedThing deafness-oligodontia syndrome Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. tmpte7i6ely_mondo_relaxed.owl congenital profound sensorineural deafness and oligodontia|deafness-oligodontia syndrome|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|deafness oligodontia syndrome Orphanet:3230|GARD:0001698|OMIM:221740|MESH:C538049|UMLS:C1857333 https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome owl:Class MONDO:0003138 biolink:NamedThing subacute glomerulonephritis A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. tmpte7i6ely_mondo_relaxed.owl UMLS:C1263744|NCIT:C35801|SCTID:123609007|DOID:4782 owl:Class MONDO:0005888 biolink:NamedThing ornithosis Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. tmpte7i6ely_mondo_relaxed.owl psittacosis EFO:0007410|ICD10:A70|ICD9:073|SCTID:75116005|ICD9:073.9|NCIT:C34873|GARD:0007492|MESH:D009956|UMLS:C0029291|DOID:11262 owl:Class MONDO:0023061 biolink:NamedThing enamel hypoplasia cataract hydrocephaly tmpte7i6ely_mondo_relaxed.owl GARD:0002106 https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly owl:Class MONDO:0020547 biolink:NamedThing chronic graft versus host disease Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications. tmpte7i6ely_mondo_relaxed.owl graft versus host disease, chronic|GVHD, chronic|chronic GVHD SCTID:402356004|NCIT:C4981|MESH:D006086|Orphanet:99921|ICD9:279.52|MedDRA:10066261|UMLS:C0867389|ICD10:D89.811|ICD10:T86.0|GARD:0010964 https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease owl:Class MONDO:0009534 biolink:NamedThing chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation tmpte7i6ely_mondo_relaxed.owl lymphoblastic transformation, inhibition of MESH:C565433|OMIM:247430 owl:Class MONDO:0008482 biolink:NamedThing Sprengel deformity tmpte7i6ely_mondo_relaxed.owl Sprengel's deformity|Sprengel's shoulder|high scapula|congenital elevation of the scapula|Sprengel deformity (disease)|Sprengel deformity|congenital upward displacement of the scapula Sprengel deformity (disease) MedDRA:10010455|MESH:C535802|Orphanet:3181|GARD:0007693|OMIM:184400|HP:0000912|ICD10:Q74.0|SCTID:79120002 owl:Class HP:0000926 biolink:NamedThing Platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates. tmpte7i6ely_mondo_relaxed.owl Flattened vertebrae|Flattened vertebral bodies|Flat vertebral bodies UMLS:C1844704 HP:0008466|HP:0005123|HP:0003421|HP:0004623|HP:0004595|HP:0002940|HP:0004627|HP:0005644 human_phenotype owl:Class MONDO:0001032 biolink:NamedThing Mooren ulcer tmpte7i6ely_mondo_relaxed.owl Mooren's ulcer SCTID:22440001|ICD10:H16.05|ICD9:370.07|Orphanet:519408|UMLS:C0155072|DOID:10439 owl:Class MONDO:0032850 biolink:NamedThing neurooculocardiogenitourinary syndrome tmpte7i6ely_mondo_relaxed.owl NEUROOCULOCARDIOGENITOURINARY SYNDROME|NOCGUS OMIM:618652|DOID:0111675 owl:Class MONDO:0011123 biolink:NamedThing type 1 diabetes mellitus 15 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. tmpte7i6ely_mondo_relaxed.owl IDDM15|insulin-dependent diabetes mellitus 15|diabetes mellitus, insulin-dependent, 15 DOID:0110753|MESH:C566645|UMLS:C1866519|ICD10:E10|OMIM:601666 owl:Class MONDO:0015044 biolink:NamedThing mu-heavy chain disease Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). tmpte7i6ely_mondo_relaxed.owl mu-HCD|mu chain disease|mu heavy chain disease ICD9:273.2|NCIT:C3892|DOID:0060128|Orphanet:100024|SCTID:61493004|ICD10:C88.2 owl:Class MONDO:0027048 biolink:NamedThing deafness, Y-linked 2 tmpte7i6ely_mondo_relaxed.owl DFNY2 OMIM:400047|DOID:0111758 owl:Class MONDO:0009225 biolink:NamedThing fever, familial lifelong persistent tmpte7i6ely_mondo_relaxed.owl fever, familial lifelong persistent OMIM:228400|MESH:C565569|UMLS:C1856788 owl:Class MONDO:0023273 biolink:NamedThing pigmented dermatofibrosarcoma protuberans A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells. tmpte7i6ely_mondo_relaxed.owl Bednars Tumor|Protuberans, Pigmented Dermatofibrosarcoma|Bednar tumor|Pigmented dermatofibrosarcoma protuberans of skin|Bednar's Tumor|DFSP, Pigmented|Pigmented dermatofibrosarcoma|Pigmented Dermatofibrosarcoma Protuberans|Pigmented DFSP|DFSPs, Pigmented|Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|bednar tumor|Pigmented storiform neurofibroma|Pigmented dermatofibrosarcoma protuberans|Pigmented Dermatofibrosarcoma Protuberan|pigmented dermatofibrosarcoma protuberans (bednar tumor)|pigmented dermatofibrosarcoma protuberans|Dermatofibrosarcoma Protuberans, Pigmented|Tumor, Bednar's|Pigmented DFSPs|Tumor, Bednar|Bednar Tumor|Dermatofibrosarcoma Protuberan, Pigmented|Protuberan, Pigmented Dermatofibrosarcoma GARD:0009624|NCIT:C9430|UMLS:C0334464|SCTID:398670003 owl:Class MONDO:0025100 biolink:NamedThing mastitis, bovine Inflammation of the udder in cows. tmpte7i6ely_mondo_relaxed.owl bovine Mastitides|bovine mastitis|Mastitides, bovine UMLS:C0024895|MESH:D008414|EFO:1001765 owl:Class MONDO:0012535 biolink:NamedThing holoprosencephaly, recurrent infections, and monocytosis tmpte7i6ely_mondo_relaxed.owl holoprosencephaly, recurrent infections, and monocytosis MESH:C538328|UMLS:C1853187|OMIM:610680|GARD:0010055 https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis owl:Class MONDO:0008249 biolink:NamedThing pilonidal sinus A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. tmpte7i6ely_mondo_relaxed.owl pilonidal sinus|pilonidal sinus (disease) pilonidal sinus (disease) HP:0010769|MESH:D010864|SCTID:47639008|OMIM:173000 owl:Class MONDO:0022321 biolink:NamedThing 2-methylacetoacetyl CoA thiolase deficiency tmpte7i6ely_mondo_relaxed.owl UMLS:C2930874|MESH:C535307|GARD:0008382 Editor note: todo split https://en.wikipedia.org/wiki/2-methylacetoacetyl-CoA_thiolase https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency owl:Class HGNC:11140 biolink:NamedThing SNCB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013037 biolink:NamedThing Giacheti syndrome tmpte7i6ely_mondo_relaxed.owl Giacheti syndrome|Marfanoid habitus and specific language and learning disabilities UMLS:C2752043|OMIM:612917|MESH:C567864 owl:Class MONDO:0007512 biolink:NamedThing ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet MESH:C565067|UMLS:C1851851|OMIM:129540 owl:Class HP:0010651 biolink:NamedThing Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. tmpte7i6ely_mondo_relaxed.owl Abnormality of the meninges UMLS:C4023758 peter 2010-02-25T10:19:40Z human_phenotype owl:Class MONDO:0008103 biolink:NamedThing noduli Cutanei, multiple, with urinary tract abnormalities tmpte7i6ely_mondo_relaxed.owl noduli Cutanei, multiple, with urinary tract abnormalities UMLS:C1834143|MESH:C563512|OMIM:163850 owl:Class MONDO:0015299 biolink:NamedThing Asherman syndrome tmpte7i6ely_mondo_relaxed.owl Asherman's syndrome|intrauterine adhesions|uterine synechiae|Asherman syndrome|intrauterine synechiae MedDRA:10053868|MedDRA:10022821|ICD10:N85.6|SCTID:48236007|GARD:0005853|Orphanet:137686|UMLS:C0156372 owl:Class MONDO:0006875 biolink:NamedThing ocular hypertension Abnormally high intraocular pressure. tmpte7i6ely_mondo_relaxed.owl ICD10:H40.05|UMLS:C0028840|MESH:D009798|EFO:1001069|ICD9:365.04|SCTID:4210003|NCIT:C3285|MedDRA:10030043|DOID:9282 owl:Class MONDO:0018974 biolink:NamedThing paraneoplastic pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. tmpte7i6ely_mondo_relaxed.owl ICD10:L10.8|ICD10:L10.81|Orphanet:63455|MedDRA:10057056|EFO:0008602|UMLS:C1112570 owl:Class NCBITaxon:325675 biolink:NamedThing unclassified Arteriviridae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016440 biolink:NamedThing elastofibroma dorsi A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules. tmpte7i6ely_mondo_relaxed.owl Elastofibroma ICDO:8820/0|UMLS:C0334460|NCIT:C4245|Orphanet:228243|UMLS:CN226932 owl:Class MONDO:0008100 biolink:NamedThing nipples inverted tmpte7i6ely_mondo_relaxed.owl nipples inverted|Mammillae Invertitae OMIM:163600 owl:Class MONDO:0044101 biolink:NamedThing pregnancy, cornual An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. tmpte7i6ely_mondo_relaxed.owl cornual pregnancy|uterine horn ectopic pregnancy|ectopic pregnancy of uterine horn|cornual Pregnancies|rudimentary horn pregnancy|Pregnancies, cornual NCIT:C92761|MESH:D065173|SCTID:87605005 owl:Class HGNC:14361 biolink:NamedThing IRX5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008775 biolink:NamedThing Amobarbital, deficient N-hydroxylation of tmpte7i6ely_mondo_relaxed.owl Amobarbital, deficient N-hydroxylation of OMIM:204800|MESH:C565959|UMLS:C1859816 owl:Class MONDO:0011009 biolink:NamedThing muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers MESH:C563378|OMIM:601170|UMLS:C1832665 owl:Class NCBITaxon:1300 biolink:NamedThing Streptococcaceae tmpte7i6ely_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017732 biolink:NamedThing alpha-mannosidosis, infantile form tmpte7i6ely_mondo_relaxed.owl lysosomal alpha-D-mannosidase deficiency, infantile form ICD10:E77.1|Orphanet:309282 owl:Class MONDO:0009649 biolink:NamedThing moyamoya disease 1 tmpte7i6ely_mondo_relaxed.owl Moyamoya disease|Moyamoya disease 1|MYMY1|spontaneous occlusion of the circle of Willis SCTID:69116000|OMIM:252350|ICD9:437.5|Orphanet:2573 owl:Class MONDO:0004340 biolink:NamedThing mixed ductal-endocrine carcinoma of pancreas A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites. tmpte7i6ely_mondo_relaxed.owl mixed ductal-endocrine carcinoma|mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma of the pancreas DOID:7716|NCIT:C6879|UMLS:C1301048 owl:Class MONDO:0014780 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 6 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene. tmpte7i6ely_mondo_relaxed.owl HPMRS6|PIGY hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|hyperphosphatasia with mental retardation syndrome type 6|hyperphosphatasia with intellectual disability syndrome type 6|glycosylphosphatidylinositol biosynthesis defect 12|hyperphosphatasia with intellectual disability syndrome 6|hyperphosphatasia with mental retardation syndrome 6 OMIM:616809|UMLS:C4225201 owl:Class MONDO:0007385 biolink:NamedThing idiopathic spontaneous coronary artery dissection tmpte7i6ely_mondo_relaxed.owl coronary artery dissection, spontaneous|idiopathic SCAD Orphanet:458718|OMIM:122455|UMLS:C1852540|ICD10:I25.4|MESH:C565153 owl:Class MONDO:0011967 biolink:NamedThing heterotopia, periventricular, associated with chromosome 5P anomalies tmpte7i6ely_mondo_relaxed.owl periventricular nodular heterotopia 3|heterotopia, periventricular, associated with chromosome 5P anomalies Orphanet:2149|MESH:C564291|UMLS:C1842562|Orphanet:98892|OMIM:608098 owl:Class MONDO:0002942 biolink:NamedThing sebaceous basal cell carcinoma tmpte7i6ely_mondo_relaxed.owl skin basosebaceous basal cell carcinoma DOID:4286 owl:Class HGNC:7494 biolink:NamedThing MT-TP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015813 biolink:NamedThing primary cutaneous marginal zone B-cell lymphoma Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder. tmpte7i6ely_mondo_relaxed.owl salt lymphoma|C-MALT|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of the skin|skin-associated lymphoid tissue lymphoma|PCMZL|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of skin|Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|cutaneous Immunocytoma ICD10:C83.0|NCIT:C7230|Orphanet:178536|SCTID:404140004|UMLS:C1275321 owl:Class HGNC:3467 biolink:NamedThing ESR1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019581 biolink:NamedThing acral persistent papular mucinosis Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. tmpte7i6ely_mondo_relaxed.owl ICD10:L98.5|UMLS:C0406660|SCTID:238949006|Orphanet:90396|ICD9:701.8 owl:Class HGNC:24035 biolink:NamedThing APPL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008365 biolink:NamedThing recombinant 8 syndrome Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. tmpte7i6ely_mondo_relaxed.owl chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion|Duplication 8q/deletion 8p|San Luis Valley recombinant chromosome 8 syndrome|Rec(8) syndrome|Rec8 syndrome|RECOMBINANT chromosome 8 syndrome|Recombinant chromosome 8 syndrome|San Luis Valley syndrome SCTID:718189004|Orphanet:96167|UMLS:C0795822|GARD:0009698|ICD10:Q99.8|OMIM:179613|MESH:C535296 owl:Class MONDO:0015687 biolink:NamedThing chronic eosinophilic leukemia tmpte7i6ely_mondo_relaxed.owl Orphanet:168940|MedDRA:10065854|UMLS:C0346421|SCTID:188733003|DOID:0080367|MESH:C580364|ICD10:D47.5 owl:Class MONDO:0001747 biolink:NamedThing tibial collateral ligament bursitis tmpte7i6ely_mondo_relaxed.owl DOID:13566|UMLS:C0158315|ICD9:726.62|SCTID:44245003 owl:Class MONDO:0023083 biolink:NamedThing epimetaphyseal dysplasia cataract tmpte7i6ely_mondo_relaxed.owl GARD:0002175 https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract owl:Class MONDO:0007961 biolink:NamedThing megalencephaly, autosomal dominant tmpte7i6ely_mondo_relaxed.owl megalencephaly, autosomal dominant UMLS:C3805727|Orphanet:2477|OMIM:155350 owl:Class MONDO:0001320 biolink:NamedThing ring staphyloma tmpte7i6ely_mondo_relaxed.owl ICD9:379.15|SCTID:5299007|ICD10:H15.85|DOID:11594|UMLS:C0155363 Editor note: consider placing in HPO owl:Class MONDO:0020791 biolink:NamedThing corneal dystrophy, Meesmann, 1 tmpte7i6ely_mondo_relaxed.owl MECD1|Corneal Dystrophy, Meesmann Epithelial|CORNEAL DYSTROPHY, MEESMANN, 1|Meesmann Corneal Dystrophy|Corneal Dystrophy, Juvenile Epithelial, of Meesmann OMIM:122100 owl:Class MONDO:0012441 biolink:NamedThing migraine with or without aura, susceptibility to, 11 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 11|migraine with or without aura, susceptibility to, 11|Mgr11 OMIM:610209 owl:Class MONDO:0006711 biolink:NamedThing constrictive pericarditis A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. tmpte7i6ely_mondo_relaxed.owl constrictive pericarditis (disease)|constrictive pericarditis constrictive pericarditis (disease) DOID:11481|UMLS:C0031048|MESH:D010494|ICD9:423.2|NCIT:C78246|SCTID:85598007|EFO:1000878|MedDRA:10010783|HP:0002563 owl:Class MONDO:0001603 biolink:NamedThing paralytic lagophthalmos tmpte7i6ely_mondo_relaxed.owl paralytic lagophthalmos|paralytic lagophthalmos (disease) paralytic lagophthalmos (disease) UMLS:C0155197|ICD10:H02.23|HP:0030003|DOID:12958|ICD9:374.21 owl:Class MONDO:0004397 biolink:NamedThing benign mediastinal psammomatous neurilemmoma A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies. tmpte7i6ely_mondo_relaxed.owl benign psammomatous neurilemmoma of mediastinum|benign psammomatous neurilemmoma of the mediastinum|benign psammomatous schwannoma of the mediastinum|benign psammomatous schwannoma of mediastinum|benign mediastinal psammomatous schwannoma NCIT:C6636|DOID:7921|UMLS:C1332513 owl:Class MONDO:0008147 biolink:NamedThing osteogenesis imperfecta type 2 Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. tmpte7i6ely_mondo_relaxed.owl osteogenesis imperfecta type II|Perinatally lethal OI|osteogenesis imperfecta congenita, perinatal lethal form|OI, type 2|osteogenesis imperfecta, type 2|OI2|lethal osteogenesis imperfecta|Vrolik type of osteogenesis imperfecta|osteogenesis imperfecta congenita|perinatal lethal osteogenesis imperfecta congenita|OI type 2|osteogenesis imperfecta, type II|osteogenesis imperfecta congenita perinatal lethal form|osteogenesis imperfecta type 2 OMIM:610915|OMIM:610682|NCIT:C99001|Orphanet:216804|GARD:0010142|DOID:0110341|OMIM:166210|SCTID:86470003|MESH:C536042|UMLS:CN536250|OMIM:259440|ICD10:Q78.0 owl:Class MONDO:0033007 biolink:NamedThing Galloway-Mowat syndrome 3 tmpte7i6ely_mondo_relaxed.owl Galloway-Mowat syndrome 3|GAMOS3 Orphanet:2065|UMLS:CN570505|OMIM:617729|DOID:0080245 owl:Class MONDO:0004288 biolink:NamedThing scirrhous breast carcinoma An infiltrating ductal breast carcinoma associated with stromal fibrosis. tmpte7i6ely_mondo_relaxed.owl infiltrating carcinoma of the breast with fibrotic Stroma|scirrhous carcinoma of breast|breast scirrhous carcinoma|scirrhous breast carcinoma|scirrhous carcinoma of the breast|infiltrating carcinoma of breast with fibrotic Stroma DOID:7578|ICDO:8514/3|SCTID:254839007|UMLS:C0346151|NCIT:C7362 owl:Class MONDO:0001511 biolink:NamedThing thyrotoxic exophthalmos tmpte7i6ely_mondo_relaxed.owl SCTID:19885005|ICD9:376.21|UMLS:C0155265|DOID:12362 owl:Class MONDO:0008659 biolink:NamedThing transcobalamin I deficiency tmpte7i6ely_mondo_relaxed.owl TCI deficiency|transcobalamin I deficiency|transcobalamin-1 deficiency|R Binder deficiency with lactoferrin deficiency|transcobalamin 1 deficiency|cobalamin R Binder Protein deficiency|Haptocorrin deficiency|Tcn1 deficiency|transcobalamin 1 deficiency with lactoferrin deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency UMLS:C0342700|ICD10:E53.8|MESH:C562798|Orphanet:2967|GARD:0005239|SCTID:237933007|OMIM:193090 https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency owl:Class NCBITaxon:37124 biolink:NamedThing Chikungunya virus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044647 biolink:NamedThing kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:496686|OMIM:617114 owl:Class MONDO:0007112 biolink:NamedThing interventricular septum aneurysm Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. tmpte7i6ely_mondo_relaxed.owl aneurysm of interventricular septum MESH:C563239|OMIM:105805|UMLS:C1387721|Orphanet:99092|ICD10:Q21.0 owl:Class MONDO:0022942 biolink:NamedThing deafness mesenteric diverticula of small bowel neuropathy tmpte7i6ely_mondo_relaxed.owl GARD:0001693 https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy owl:Class MONDO:0022898 biolink:NamedThing craniosynostosis intellectual disability heart defects tmpte7i6ely_mondo_relaxed.owl GARD:0001600 https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects owl:Class MONDO:0019949 biolink:NamedThing zebra body myopathy tmpte7i6ely_mondo_relaxed.owl ICD10:G71.2|SCTID:34513009|ICD9:359.89|Orphanet:97240|UMLS:C0270969 owl:Class NBO:0000747 biolink:NamedThing jaw movement tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023098 biolink:NamedThing extrasystoles short stature hyperpigmentation microcephaly tmpte7i6ely_mondo_relaxed.owl Char douglas Dungan syndrome GARD:0002213 https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly owl:Class UBERON:0005397 biolink:NamedThing brain arachnoid mater tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010411 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 4 tmpte7i6ely_mondo_relaxed.owl IHPS4|pyloric stenosis, infantile hypertrophic, 4 MESH:C567472|OMIM:300711|UMLS:C2678037 owl:Class MONDO:0019323 biolink:NamedThing pemphigus erythematosus Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed. tmpte7i6ely_mondo_relaxed.owl seborrheic pemphigus|Senear-Usher syndrome ICD10:L10.4|UMLS:C0263312|MedDRA:10058917|EFO:0008603|Orphanet:79480|SCTID:36739006 owl:Class MONDO:0008240 biolink:NamedThing 6-phosphogluconolactonase deficiency tmpte7i6ely_mondo_relaxed.owl Pgls deficiency|6Pgl deficiency|6-phosphogluconolactonase deficiency OMIM:172150|MESH:C566803|UMLS:C1868355 owl:Class MONDO:0008072 biolink:NamedThing IgA nephropathy, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl Igan|glomerulonephritis, IgA|berger disease|IGAN1|nephritis, IgA type|IgA nephropathy, susceptibility to, 1 OMIM:161950|GARD:0000863 owl:Class HGNC:6018 biolink:NamedThing IL6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019435 biolink:NamedThing rheumatoid factor-positive polyarticular juvenile idiopathic arthritis A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. tmpte7i6ely_mondo_relaxed.owl rheumatoid factor-positive polyarticular JIA|juvenile idiopathic rheumatoid factor-positive polyarthritis|polyarticular JIA, RF+|polyarthritis with rheumatoid factor|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive|polyarticular juvenile idiopathic arthritis, RF+ ICD10:M08.0|Orphanet:85435|UMLS:C3890733|NCIT:C119034 owl:Class MONDO:0018456 biolink:NamedThing polyarticular juvenile idiopathic arthritis tmpte7i6ely_mondo_relaxed.owl juvenile polyarthritis|juvenile polyarticular arthritis|polyarticular JIA Orphanet:404580|EFO:1002020|SCTID:16044751000119106 owl:Class MONDO:0011279 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 17 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 17|deafness, autosomal recessive 17|autosomal recessive nonsyndromic deafness type 17|DFNB17|autosomal recessive nonsyndromic deafness 17 UMLS:C1864276|MESH:C566418|DOID:0110472|OMIM:603010|ICD10:H90.3 owl:Class CL:0000172 biolink:NamedThing somatostatin secreting cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class MONDO:0020308 biolink:NamedThing benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. tmpte7i6ely_mondo_relaxed.owl late-onset benign childhood occipital epilepsy ICD10:G40.0|UMLS:CN207128|Orphanet:98816 owl:Class UBERON:0035846 biolink:NamedThing fibrous enthesis tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007322 biolink:NamedThing chondrodysplasia punctata, tibial-metacarpal type tmpte7i6ely_mondo_relaxed.owl chondrodysplasia punctata, Mt type|chondrodysplasia punctata, tibia-metacarpal type SCTID:254083002|OMIM:118651|ICD9:756.59|ICD10:Q77.3|MESH:C562961|Orphanet:79346 owl:Class MONDO:0100221 biolink:NamedThing IFAP syndrome 2 tmpte7i6ely_mondo_relaxed.owl ichthyosis follicularis, atrichia, and photophobia syndrome 2|IFAP2|IFAP SYNDROME 2 OMIM:619016 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100212 biolink:NamedThing IFAP syndrome tmpte7i6ely_mondo_relaxed.owl OMIMPS:308205 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0024359 biolink:NamedThing central sleep apnea due to periodic breathing tmpte7i6ely_mondo_relaxed.owl central sleep apnea due to periodic breathing ICD9:786.09|UMLS:C3662057|ICD9:327.27|SCTID:85721000119105 owl:Class MONDO:0002844 biolink:NamedThing lymphocytic gastritis tmpte7i6ely_mondo_relaxed.owl lymphocytic gastritis UMLS:C1283271|ICD9:535.40|NCIT:C27051|DOID:4035|SCTID:360375007 owl:Class MONDO:0001206 biolink:NamedThing aqueous misdirection tmpte7i6ely_mondo_relaxed.owl ICD10:H40.83|ICD9:365.83|DOID:11149 owl:Class HP:0025323 biolink:NamedThing Abnormal arterial physiology An anomaly of arterial function. tmpte7i6ely_mondo_relaxed.owl 2017-02-03 12:08:38+00:00 HPO:probinson human_phenotype owl:Class MONDO:0017484 biolink:NamedThing femoral agenesis/hypoplasia, unilateral tmpte7i6ely_mondo_relaxed.owl femoral intercalary meromelia, unilateral ICD10:Q72.4|Orphanet:295065 owl:Class GO:0055092 biolink:NamedThing sterol homeostasis Any process involved in the maintenance of an internal steady state of sterol within an organism or cell. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009810 biolink:NamedThing autosomal recessive distal osteolysis syndrome Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. tmpte7i6ely_mondo_relaxed.owl osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|distal osteolysis-short stature-intellectual disability syndrome|Petit-Fryns syndrome|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis syndrome, recessive|osteolysis syndrome recessive|osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance UMLS:C4275111|UMLS:C1850143|MESH:C536052|GARD:0004299|Orphanet:2776|GARD:0004144|OMIM:259610|SCTID:715487005 owl:Class MONDO:0006571 biolink:NamedThing lichen nitidus A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. tmpte7i6ely_mondo_relaxed.owl Pinkus' disease ICD9:697.1|MESH:D017513|EFO:1000725|ICD10:L44.1|DOID:8573|Wikipedia:Lichen_nitidus|UMLS:C0162849|SCTID:41890004 owl:Class MONDO:0011538 biolink:NamedThing frontoocular syndrome tmpte7i6ely_mondo_relaxed.owl frontoocular syndrome OMIM:605321|MESH:C565340|UMLS:C1854405 owl:Class MONDO:0008421 biolink:NamedThing flat face-microstomia-ear anomaly syndrome Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. tmpte7i6ely_mondo_relaxed.owl Simosa-Penchaszadeh-Bustos syndrome|Simosa cranio facial syndrome|SIMOSA craniofacial syndrome|blepharophimosis-telecanthus-microstomia syndrome GARD:0004873|OMIM:182150|UMLS:C1866962|Orphanet:1968|ICD10:Q87.0|MESH:C537339 owl:Class MONDO:0007368 biolink:NamedThing familial benign copper deficiency Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl familial benign hypocupremia|copper deficiency, familial benign Orphanet:1551|SCTID:763531001|GARD:0001522|MESH:C535468|OMIM:121270|UMLS:C1852576|ICD10:E83.0 https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign owl:Class MONDO:0003446 biolink:NamedThing papillary hidradenoma A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. tmpte7i6ely_mondo_relaxed.owl hidradenoma papilliferum NCIT:C4171|ICDO:8405/0|DOID:5439|UMLS:C0334348|SCTID:307597000 owl:Class HGNC:26392 biolink:NamedThing PTCHD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001219 biolink:NamedThing serous conjunctivitis except viral tmpte7i6ely_mondo_relaxed.owl serous conjunctivitis, except viral UMLS:C0155142|DOID:11197|SCTID:9824006|ICD9:372.01|ICD10:H10.23 owl:Class MONDO:0005146 biolink:NamedThing post-traumatic stress disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. tmpte7i6ely_mondo_relaxed.owl combat neurosis|traumatic neurosis|post-traumatic stress disorder|PTSD EFO:0001358|SCTID:47505003|DOID:2055|NIFSTD:birnlex_12679|NCIT:C3389|ICD10:F43.1|ICD10:F43.10|ICD9:309.81|MESH:D013313|OMIM:608627 owl:Class MONDO:0005379 biolink:NamedThing neurotic disorder A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears. tmpte7i6ely_mondo_relaxed.owl Psychoneuroses|psychoneurosis|neurotic depressive state|disorders, neurotic|neurotic depression|neurotic depression reactive type|neuroses|reactive depression|depressive neurosis|psychoneurosis NOS|neurotic disorder|neurosis|disorder, neurotic NCIT:C34848|ICD10:F48.9|MESH:D000275|ICD10:F34.1|DOID:4964|ICD9:300.9|MESH:D009497|SCTID:111475002|EFO:0004257|ICD9:300.89 owl:Class MONDO:0044923 biolink:NamedThing acute myeloid leukemia with mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. tmpte7i6ely_mondo_relaxed.owl AML, Nucleophosmin Gene Mutation|AML, NPM1 gene mutation|AML, NPM1 Mutation|AML with mutated NPM1|acute myeloid leukemia with mutated NPM1|NPMc+ AML|acute myeloid leukemia with cytoplasmic nucleophosmin|acute myeloid leukemia, NPM1 gene mutation|AML, Mutation of the Nucleophosmin Gene NCIT:C82429|ONCOTREE:AMLNPM1|UMLS:C2826177|NCIT:C82431 https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0020220 biolink:NamedThing corneoiridogoniodysgenesis tmpte7i6ely_mondo_relaxed.owl 2022-05-01 Orphanet:98636 Reason: out of scope. Obsoleted in Orphanet. Term to consider: None owl:Class MONDO:0005799 biolink:NamedThing hookworm infectious disease Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available. tmpte7i6ely_mondo_relaxed.owl infections, hookworm|Bunostomiases|infection, hookworm|hookworm infection|Bunostomiasis EFO:0007314 Editor note: TODO owl:Class MONDO:0022989 biolink:NamedThing diomedi bernardi placidi syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001870 https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome owl:Class MONDO:0011440 biolink:NamedThing hypertension, essential, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl hypertension, essential, susceptibility to, 2|hypertension, essential, susceptibility to, type 2|Hyt2 OMIM:604329 owl:Class MONDO:0100381 biolink:NamedThing acute myeloid leukemia, t(6;11)(q27;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, t(6;11)(q27;q23)|AML, t(6;11)(q27;q23.3) NCIT:C132105|NCIT:C36610 owl:Class UBERON:0004267 biolink:NamedThing back connective tissue tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032670 biolink:NamedThing Diamond-Blackfan anemia 20 tmpte7i6ely_mondo_relaxed.owl DIAMOND-BLACKFAN ANEMIA 20|DBA20 OMIM:618313 owl:Class MONDO:0001159 biolink:NamedThing multiple personality disorder A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition. tmpte7i6ely_mondo_relaxed.owl dissociative identity disorder NCIT:C94330|ICD10:F44.81|MESH:D009105|SCTID:31611000|ICD9:300.14|DOID:10934 owl:Class MONDO:0008018 biolink:NamedThing Muir-Torre syndrome Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. tmpte7i6ely_mondo_relaxed.owl MRTES|Muir-Torre syndrome|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas|multiple keratoacanthoma, Muir-Torre type|MUIR-Torre syndrome GARD:0006821|NCIT:C84905|MedDRA:10063042|MESH:D055653|SCTID:403824007|ICD10:L72.8|OMIM:158320|Orphanet:587|UMLS:C1321489|DOID:0050465 owl:Class MONDO:0042499 biolink:NamedThing benign familial neonatal-infantile seizures 1 tmpte7i6ely_mondo_relaxed.owl benign infantile familial convulsions|BFIS1|benign familial infantile convulsions syndrome|benign infantile familial convulsions 1|seizures, benign familial infantile, 1|convulsions, benign familial infantile, 1|BFIC1|benign familial infantile convulsions syndrome 1 OMIM:601764|Orphanet:306|GARD:0000856 owl:Class MONDO:0025152 biolink:NamedThing non-human ape disease Diseases of chimpanzees, gorillas, and orangutans. tmpte7i6ely_mondo_relaxed.owl ape disease|Pongidae diseases|diseases, ape|Pongidae disease|disease, Pongidae|disease, ape|diseases, Pongidae MESH:D018420|UMLS:C0242635 owl:Class MONDO:0001985 biolink:NamedThing partial arterial retinal occlusion A partial occlusion of the retinal artery. tmpte7i6ely_mondo_relaxed.owl partial retinal arterial occlusion|retinal partial arterial occlusion ICD10:H34.219|NCIT:C35192|UMLS:C0154839|DOID:14522|ICD10:H34.21|ICD9:362.33|SCTID:776009 owl:Class MONDO:0019858 biolink:NamedThing idiopathic congenital hypothyroidism Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. tmpte7i6ely_mondo_relaxed.owl ICD10:E03.1|UMLS:C4273913|Orphanet:95717|SCTID:717334008 owl:Class MONDO:0030486 biolink:NamedThing dystonia 32 tmpte7i6ely_mondo_relaxed.owl DYT32 OMIM:619637 owl:Class MONDO:0017189 biolink:NamedThing adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide tmpte7i6ely_mondo_relaxed.owl NI-PHH UMLS:C4274082|ICD10:E16.1|SCTID:717044000|Orphanet:276608 owl:Class MONDO:0013151 biolink:NamedThing choroidal dystrophy, central areolar, 3 tmpte7i6ely_mondo_relaxed.owl CACD3|choroidal dystrophy, central areolar, with or without drusen|choroidal dystrophy, central areolar, 3 MESH:C567729|UMLS:C2751055|Orphanet:75377|OMIM:613144 owl:Class HGNC:12406 biolink:NamedThing TUB tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017480 biolink:NamedThing amelia of lower limb, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295057|ICD10:Q72.0 owl:Class MONDO:0056821 biolink:NamedThing bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications. tmpte7i6ely_mondo_relaxed.owl cryptogenic organizing pneumonia|COP|organized pneumonia|BOOP|constrictive bronchiolitis|organizing pneumonia 2022-05-01 GARD:0005961|SCTID:68409003 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0004913 biolink:NamedThing alternating esotropia tmpte7i6ely_mondo_relaxed.owl DOID:9888|SCTID:39837002|UMLS:C0152205|ICD10:H50.05|ICD9:378.05 owl:Class MONDO:0004418 biolink:NamedThing microcystic variant infiltrating bladder urothelial carcinoma tmpte7i6ely_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, microcystic variant NCIT:C39820|DOID:7971|UMLS:C1512740 owl:Class HGNC:8857 biolink:NamedThing PEX16 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016724 biolink:NamedThing papillary tumor of the pineal region Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus. tmpte7i6ely_mondo_relaxed.owl PTPR ICD10:D44.5|ICDO:9395/3|UMLS:C2985219|Orphanet:251915|EFO:1000451|NCIT:C92624|ONCOTREE:PTPR owl:Class MONDO:0011231 biolink:NamedThing febrile seizures, familial, 2 tmpte7i6ely_mondo_relaxed.owl febrile seizures, familial, 2|FEB2|convulsions, familial febrile, 2 OMIM:602477|MESH:C566541|UMLS:C1865342|DOID:0111310 owl:Class MONDO:0000898 biolink:NamedThing malignant hemangioma A malignant form of hemangioma. tmpte7i6ely_mondo_relaxed.owl hemangioma, malignant UMLS:C0474836|DOID:0080189 Editor note: hemangiomas currently classified as benign. Consider obsoleting these owl:Class OBO:CHR_9606-chr17q21.3 biolink:NamedThing 17q21.3 (Human) tmpte7i6ely_mondo_relaxed.owl 52100000 42800000 hg38 owl:Class N8f9bf149c43144419f1cfd2b0ad401ec biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0011298 biolink:NamedThing submucosa of uterine tube tmpte7i6ely_mondo_relaxed.owl owl:Class CL:2000020 biolink:NamedThing inner cell mass cell Any native cell that is part of a inner cell mass. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-24T23:16:53Z cell owl:Class UBERON:0009032 biolink:NamedThing right pulmonary vein tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:16974 biolink:NamedThing SRCAP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014217 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 5 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene. tmpte7i6ely_mondo_relaxed.owl hereditary hemorrhagic telangiectasia caused by mutation in GDF2|GDF2 hereditary hemorrhagic telangiectasia|HHT5|telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506|Orphanet:774|UMLS:C3809710 owl:Class HGNC:24464 biolink:NamedThing CHST14 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:11326 biolink:NamedThing SSR4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:26274 biolink:NamedThing NARS2 tmpte7i6ely_mondo_relaxed.owl owl:Class Nf4eae57517694c998e3c613d63e954f3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0013429 biolink:NamedThing retinitis pigmentosa 40 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. tmpte7i6ely_mondo_relaxed.owl RP40|retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa type 40|PDE6B retinitis pigmentosa|retinitis pigmentosa 40 ICD10:H35.5|DOID:0110375|UMLS:C3151107|OMIM:613801 owl:Class UBERON:0004235 biolink:NamedThing mammary gland smooth muscle tmpte7i6ely_mondo_relaxed.owl owl:Class Ned2563945c4449e2a7df1af477dbb48d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:34399 biolink:NamedThing UQCC3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:17175 biolink:NamedThing PLCE1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:2978 biolink:NamedThing DNMT3A tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4585 biolink:NamedThing GRIN2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013284 biolink:NamedThing immunodeficiency, common variable, 4 tmpte7i6ely_mondo_relaxed.owl antibody deficiency due to Baffr defect|immunodeficiency, common variable, 4|CVID4|immunodeficiency, common variable, type 4 OMIM:613494|Orphanet:1572|UMLS:C3150739 owl:Class PATO:0001759 biolink:NamedThing granular A composition quality inhering in a bearer by virtue of the bearer's containing granules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009144 biolink:NamedThing Ebstein anomaly Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. tmpte7i6ely_mondo_relaxed.owl Ebstein anomaly|Ebstein anomaly (disease)|Ebstein's anomaly of tricuspid valve|Ebstein's anomaly of common atrioventricular valve|Ebstein's anomaly of right atrioventricular valve|Ebstein anomaly of the tricuspid valve|Ebstein malformation|Ebstein's anomaly (disorder) [ambiguous]|Ebstein's anomaly|Ebstein's malformation Ebstein anomaly (disease) GARD:0006313|MedDRA:10014075|Orphanet:1880|UMLS:C0013481|MESH:D004437|ICD9:746.2|OMIM:224700|EFO:0007244|DOID:14289|ICD10:Q22.5|NCIT:C84681 owl:Class HGNC:4982 biolink:NamedThing HMBS tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:20582 biolink:NamedThing CYP2U1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0009625 biolink:NamedThing sacral nerve tmpte7i6ely_mondo_relaxed.owl owl:Class Nb48eeb7b2aae4a2a91bc831b9fe6a750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0004291 biolink:NamedThing heart rudiment tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0022626 biolink:NamedThing cytosolic ribosome A ribosome located in the cytosol. tmpte7i6ely_mondo_relaxed.owl 80S ribosome|70S ribosome owl:Class HGNC:15899 biolink:NamedThing NDUFAF5 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002255 biolink:NamedThing stromal cell of endometrium Connective tissue cells of the endometrium, these cells are fibroblastic in appearance. During decidualization they tranform into decidual (stromal) cells, swellling up and adopt an epithelial cell-like appearance due to the accumulation of glycogen and lipid droplets. tmpte7i6ely_mondo_relaxed.owl endometrial stromal cell FMA:86490|CALOHA:TS-1266 tmeehan 2010-09-08T09:50:04Z cell owl:Class MONDO:0007171 biolink:NamedThing atrial standstill 1 Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene. tmpte7i6ely_mondo_relaxed.owl GJA5 atrial standstill|cardiomyopathy, familial, with conduction disturbance|atrial cardiomyopathy with heart block|atrial standstill type 1|ATRST1|atrial standstill caused by mutation in GJA5|atrial standstill 1 Orphanet:1344|OMIM:108770 owl:Class MONDO:0044682 biolink:NamedThing MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome tmpte7i6ely_mondo_relaxed.owl MYBPC1-related autosomal recessive non-lethal AMC syndrome Orphanet:498693 owl:Class ENVO:01001309 biolink:NamedThing liquid air-water interface layer A liquid surface layer which is in contact with air. tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0060610 biolink:NamedThing mesenchymal cell differentiation involved in mammary gland development The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts. tmpte7i6ely_mondo_relaxed.owl mammary gland mesenchymal cell differentiation owl:Class HP:0000967 biolink:NamedThing Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. tmpte7i6ely_mondo_relaxed.owl MSH:D011693|MEDDRA:10034754|SNOMEDCT_US:50091001|UMLS:C0031256|SNOMEDCT_US:271813007 human_phenotype owl:Class NCBITaxon:8782 biolink:NamedThing Aves tmpte7i6ely_mondo_relaxed.owl avian|birds GC_ID:1 ncbi_taxonomy owl:Class HGNC:25566 biolink:NamedThing SETD5 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:5754 biolink:NamedThing Acanthamoeba tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:417 biolink:NamedThing ALDOB tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0034946 biolink:NamedThing gas excreted from digestive tract tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0000114 biolink:NamedThing surface ectodermal cell tmpte7i6ely_mondo_relaxed.owl cell of surface ectoderm|surface ectoderm cell FMA:72552 cell owl:Class HGNC:1052 biolink:NamedThing BIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013103 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 10 An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene. tmpte7i6ely_mondo_relaxed.owl GEFS+5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10|epilepsy, idiopathic generalized, susceptibility to, type 10|GEFS+, type 5, susceptibility to|susceptibility to idiopathic generalized epilepsy 10|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|EIG10|epilepsy, juvenile myoclonic, susceptibility to, 7|GEFSP5, susceptibility to Orphanet:307|DOID:0111292|OMIM:613060|Orphanet:36387 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0007548 biolink:NamedThing transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa dystrophica, dominant neonatal form|DEB-BDN|MONDON|DEB, bullous dermolysis of the newborn|dystrophic epidermolysis bullosa, neonatal|transient bullous dermolysis of the newborn|TBDN|epidermolysis bullosa dystrophica, neonatal form ICD10:Q81.2|OMIM:131705|UMLS:C1851573|GARD:0010010|MESH:C536979|DOID:0111345|Orphanet:79411 https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn owl:Class MONDO:0015049 biolink:NamedThing solitary necrotic nodule of the liver Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. tmpte7i6ely_mondo_relaxed.owl hepatic solitary necrotic nodule Orphanet:100035|UMLS:CN197336|ICD10:D13.4|SCTID:447058001 owl:Class HGNC:8850 biolink:NamedThing PEX1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014622 biolink:NamedThing isolated focal non-epidermolytic palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl FNEPPK2|palmoplantar keratoderma, nonepidermolytic, focal type 2|palmoplantar keratoderma, nonepidermolytic, focal 2 UMLS:C4225339|Orphanet:448264|OMIM:616400 owl:Class MONDO:0010541 biolink:NamedThing X-linked calvarial hyperostosis tmpte7i6ely_mondo_relaxed.owl calvarial hyperostosis|isolated hyperostosis of the calvarium Orphanet:391327|MESH:C537963|ICD10:M85.2|OMIM:302030|GARD:0001058 owl:Class NCBITaxon:12461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0019545 biolink:NamedThing systemic monochloroacetate poisoning Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. tmpte7i6ely_mondo_relaxed.owl ICD10:T60.3|Orphanet:90069 owl:Class MONDO:0004381 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures. tmpte7i6ely_mondo_relaxed.owl pancreatic intraductal papillary-mucinous adenoma|pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia ICDO:8453/0|UMLS:C1518868|SCTID:473418001|DOID:7851|NCIT:C41249 owl:Class OBO:CHR_9606-chr15q24 biolink:NamedThing 15q24 (Human) tmpte7i6ely_mondo_relaxed.owl 78000000 72400000 hg38 owl:Class UBERON:0009482 biolink:NamedThing associated mesenchyme of foregut-midgut junction tmpte7i6ely_mondo_relaxed.owl owl:Class Ne76b20a604ce435583918af2cdd11db7 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007594 biolink:NamedThing factor 5 excess with spontaneous thrombosis tmpte7i6ely_mondo_relaxed.owl Proaccelerin Excess|thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis MESH:C565026|UMLS:C1851378|OMIM:134400 owl:Class HGNC:2590 biolink:NamedThing CYP11A1 tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002599 biolink:NamedThing smooth muscle cell of the esophagus A smooth muscle cell of the esophagus. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:48:17Z cell owl:Class CL:0000357 biolink:NamedThing stratified epithelial stem cell tmpte7i6ely_mondo_relaxed.owl cell owl:Class N1632d116db4245cfa3ce55975ca706b3 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl PATO:0002071 biolink:NamedThing increased affinity An affinity which is relatively high. tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:13345 biolink:NamedThing LPIN1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003928 biolink:NamedThing uterine corpus myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. tmpte7i6ely_mondo_relaxed.owl uterine corpus myxoid leiomyosarcoma|myxoid leiomyosarcoma of body of uterus|uterine myxoid leiomyosarcoma|body of uterus myxoid leiomyosarcoma NCIT:C40175|DOID:6567|UMLS:C1519861|ONCOTREE:UMLMS owl:Class ENVO:01000248 biolink:NamedThing dense settlement biome A dense settlement biome is an anthropogenic terrestrial biome which is primarily used for human habitation, recreation, and industry within built structures with little other land use. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017818 biolink:NamedThing lethal arteriopathy syndrome due to fibulin-4 deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:314718|UMLS:CN203788 owl:Class MONDO:0011942 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl SLEN1|systemic lupus erythematosus with nephritis, susceptibility to, 1 OMIM:607965 owl:Class N21304858ad674774a2caf0e49c19cef6 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0002806 biolink:NamedThing left occipital lobe tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010939 biolink:NamedThing low phospholipid associated cholelithiasis Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. tmpte7i6ely_mondo_relaxed.owl gallbladder disease type 1|cholelithiasis with ABCB4 gene mutation|gallbladder disease 1|GBD1|cholelithiasis, Low phospholipid-associated|LPAC|ABCB4 gene mutation-associated cholelithiasis UMLS:C2609268|Orphanet:69663|OMIM:600803|MedDRA:10068936|SCTID:715577009 owl:Class Nc7b57e171f4146fb915129f8e249e14f biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0013210 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 25 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene. tmpte7i6ely_mondo_relaxed.owl DFNB25|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1|deafness, autosomal recessive type 25|deafness, autosomal recessive 25|autosomal recessive deafness 25|autosomal recessive nonsyndromic deafness type 25|autosomal recessive nonsyndromic deafness 25|GRXCR1 autosomal recessive nonsyndromic deafness ICD10:H90.3|UMLS:C1414017|OMIM:613285|DOID:0110483|Orphanet:90636 owl:Class NBO:0000073 biolink:NamedThing chewing The act of repeated grinding, tearing, and or crushing with teeth or jaws [NBO:SMAC] tmpte7i6ely_mondo_relaxed.owl mastication|chew|gnaw owl:Class Ncde9c025c1984325a4467a1838d28436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UBERON:0007198 biolink:NamedThing hermaphrodite anatomical structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001003 biolink:NamedThing pneumoconiosis due to talc Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities. tmpte7i6ely_mondo_relaxed.owl talc pneumoconiosis SCTID:73144008|DOID:10329|ICD10:J62.0|ICD9:502|UMLS:C0238377|NCIT:C27026 owl:Class HGNC:4976 biolink:NamedThing HLCS tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5414 biolink:NamedThing IFITM3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0013249 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 84A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. tmpte7i6ely_mondo_relaxed.owl DFNB84A|autosomal recessive deafness 84A|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A with vestibular dysfunction|PTPRQ autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84A, with vestibular dysfunction|autosomal recessive nonsyndromic deafness type 84A|deafness, autosomal recessive 84|autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ|autosomal recessive nonsyndromic deafness 84A|deafness, autosomal recessive 84A UMLS:C3150654|Orphanet:90636|ICD10:H90.3|OMIM:613391|DOID:0110529 owl:Class HGNC:9679 biolink:NamedThing PTPRQ tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0037237 biolink:NamedThing wall of lacrimal duct tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:5330 biolink:NamedThing IARS1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:7001 biolink:NamedThing MEIS2 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:7586 biolink:NamedThing Echinodermata tmpte7i6ely_mondo_relaxed.owl echinoderms GC_ID:1 ncbi_taxonomy owl:Class CL:0000900 biolink:NamedThing naive thymus-derived CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. tmpte7i6ely_mondo_relaxed.owl naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive thymus-dervied CD8-positive, alpha-beta T-cell|T.8Nve.Sp This cell traffics in secondary lymphoid organs and blood. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD8+ T cell', but includes additional markers known to be expressed on naive CD8+ T cells. cell owl:Class MONDO:0018616 biolink:NamedThing central serous chorioretinopathy Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals. tmpte7i6ely_mondo_relaxed.owl CSC|CSCR|central serous chorioretinopathy after bone marrow transplantation|central serous retinopathy|central serous choroidopathy Orphanet:443079|GARD:0000200|SCTID:312956001|MESH:D056833|UMLS:C0730328|ICD10:H35.7|NCIT:C115124|ICD9:362.41 https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy owl:Class HGNC:21253 biolink:NamedThing LHFPL5 tmpte7i6ely_mondo_relaxed.owl owl:Class N608603f47ad34285a9a8b857143e6659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:1908 biolink:NamedThing VPS13A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021013 biolink:NamedThing trichothiodystrophy 4, nonphotosensitive A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. tmpte7i6ely_mondo_relaxed.owl MPLKIP nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy|trichothiodystrophy, nonphotosensitive 1|Pollitt syndrome|hair-brain syndrome|trichothiodystrophy-neurocutaneous syndrome|trichothiodystrophy 4, nonphotosensitive|Amish brittle hair brain syndrome|TTD4|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|BIDS syndrome ICD9:783.43|OMIM:234050|Orphanet:75790|DOID:0050528|NCIT:C146899|ICD9:704.8|SCTID:403796005 owl:Class HGNC:4175 biolink:NamedThing GATM tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008329 biolink:NamedThing autosomal dominant pseudohypoaldosteronism type 1 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. tmpte7i6ely_mondo_relaxed.owl pseudohypoaldosteronism type 1 autosomal dominant|autosomal dominant PHA 1|autosomal dominant pseudohypoaldosteronism type 1|pseudohypoaldosteronism, type I, autosomal dominant|pseudohypoaldosteronism type 1, dominant|renal PHA1|renal pseudohypoaldosteronism type 1|PHA1A|PHA I, autosomal dominant NCIT:C126810|Orphanet:171871|Orphanet:756|UMLS:C1449842|OMIM:177735|ICD10:N25.8|MESH:D011546|DOID:0060855|GARD:0009145 https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 owl:Class N8ab8f3d5a9fe45be9d1c8ce18e00fc24 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0013092 biolink:NamedThing glioma susceptibility 2 Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene. tmpte7i6ely_mondo_relaxed.owl GLM2|glioma susceptibility 2|PTEN malignant glioma|glioma susceptibility type 2|malignant glioma caused by mutation in PTEN Orphanet:182067|OMIM:613028 owl:Class HGNC:6483 biolink:NamedThing LAMA3 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0011147 biolink:NamedThing Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. tmpte7i6ely_mondo_relaxed.owl Typical absence|Typical absence seizures SNOMEDCT_US:79631006|MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:50866000|SNOMEDCT_US:432241000124101|UMLS:C0014553 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. peter 2011-10-18T01:52:22Z human_phenotype owl:Class MONDO:0012650 biolink:NamedThing Cernunnos-XLF deficiency Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. tmpte7i6ely_mondo_relaxed.owl SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation|Nhej1 syndrome|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|NHEJ1 deficiency|combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|Cernunnos XLFD|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|Cernunnos-XLF deficiency|Cernunnos deficiency OMIM:611291|MESH:C566970|ICD10:D81.1|Orphanet:169079|UMLS:C1969799|SCTID:720853005 owl:Class HGNC:25737 biolink:NamedThing NHEJ1 tmpte7i6ely_mondo_relaxed.owl owl:Class UBERON:0005437 biolink:NamedThing conus medullaris tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007555 biolink:NamedThing pidermolysis bullosa simplex 5A, Ogna type A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. tmpte7i6ely_mondo_relaxed.owl EBS-O|EBSOG|epidermolysis bullosa simplex, Ogna type|EBS-Og ICD9:757.39|OMIM:131950|Orphanet:79401|GARD:0002148|SCTID:398071000|MESH:C535962|DOID:0060736|ICD10:Q81.0 https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type owl:Class HGNC:2918 biolink:NamedThing DLX5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016211 biolink:NamedThing non-papillary transitional cell carcinoma of the bladder tmpte7i6ely_mondo_relaxed.owl non-papillary urothelial carcinoma ICD10:C67.6|ICD10:C67.7|ICD10:C67.5|ICD10:C67.4|UMLS:CN200968|ICD10:C67.1|ICD10:C67.9|ICD10:C67.2|ICD10:C67.3|ICD10:C67.0|Orphanet:209989|ICD10:C67.8 owl:Class N48ac962fdf584cbf9c36c79a77599785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl CHEBI:30563 biolink:NamedThing silicon dioxide A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens. tmpte7i6ely_mondo_relaxed.owl silicic anhydride|Silica, amorphous|silicon(IV) oxide|Kieselsaeureanhydrid|silica|silicon dioxide|(SiO2)n|Siliziumdioxid|SiO2|[SiO2] owl:Class CL:2000010 biolink:NamedThing dermis blood vessel endothelial cell Any blood vessel endothelial cell that is part of a dermis. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-04T15:12:06Z cell owl:Class HGNC:1713 biolink:NamedThing CDAN1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0015739 biolink:NamedThing sialic acid transport The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl owl:Class N5f9dbfe447c948a3b69fd5a10b3f45e1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:746 biolink:NamedThing ASL tmpte7i6ely_mondo_relaxed.owl owl:Class CL:0002600 biolink:NamedThing smooth muscle cell of trachea A smooth muscle cell of the trachea. tmpte7i6ely_mondo_relaxed.owl tmeehan 2011-03-06T05:50:28Z cell owl:Class CL:1000090 biolink:NamedThing pronephric nephron tubule epithelial cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0014046 biolink:NamedThing Cowden syndrome 4 Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene. tmpte7i6ely_mondo_relaxed.owl Cowden disease caused by mutation in KLLN|Cowden syndrome type 4|KLLN Cowden disease|CWS4|Cowden syndrome 4 UMLS:C3554517|OMIM:615107|Orphanet:201 owl:Class HGNC:4573 biolink:NamedThing GRIA3 tmpte7i6ely_mondo_relaxed.owl owl:Class N4771189e05c04f7ab8edd266f0fe2adc biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0000074 biolink:NamedThing Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. tmpte7i6ely_mondo_relaxed.owl Pelviureteric junction obstruction|Ureteropelvic junction stenosis UMLS:C0521619|SNOMEDCT_US:95575002|MSH:C537373 human_phenotype owl:Class HGNC:6413 biolink:NamedThing KRT10 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:1905030 biolink:NamedThing voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. tmpte7i6ely_mondo_relaxed.owl voltage-dependent ion channel activity involved in regulation of postsynaptic membrane potential|voltage gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of postsynaptic membrane potential|voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential|voltage-gated ion channel activity involved in regulation of post-synaptic membrane potential owl:Class HGNC:11073 biolink:NamedThing SLC9A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007181 biolink:NamedThing axial osteomalacia tmpte7i6ely_mondo_relaxed.owl axial osteomalacia|atypical osteomalacia involving the axial skeleton GARD:0008431|OMIM:109130|UMLS:C1862372|MESH:C537791|DOID:0080039 https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia owl:Class NCBITaxon:88456 biolink:NamedThing Cyclospora cayetanensis tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008603 biolink:NamedThing trigonocephaly 1 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene. tmpte7i6ely_mondo_relaxed.owl trigonocephaly type 1|FGFR1 isolated trigonocephaly|isolated trigonocephaly caused by mutation in FGFR1|craniosynostosis, metopic|trigonocephaly 1|TRIGNO1 OMIM:190440|Orphanet:3366 owl:Class MONDO:0014940 biolink:NamedThing neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset tmpte7i6ely_mondo_relaxed.owl NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP UMLS:C4310693|OMIM:617145 owl:Class NCBITaxon:7162 biolink:NamedThing Ochlerotatus triseriatus tmpte7i6ely_mondo_relaxed.owl Aedes triseriatus GC_ID:1 NCBITaxon:190384 ncbi_taxonomy owl:Class N94fec106ad5349aaa7619b35aecb0745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HGNC:1912 biolink:NamedThing CHAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003995 biolink:NamedThing vulvar childhood botryoid-type embryonal rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpte7i6ely_mondo_relaxed.owl childhood botryoid rhabdomyosarcoma of mammalian vulva|childhood sarcoma Botryoides of the vulva|mammalian vulva childhood botryoid rhabdomyosarcoma|vulvar childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva DOID:6789|NCIT:C36098|UMLS:C1332946 owl:Class NCBITaxon:1535326 biolink:NamedThing Candida tmpte7i6ely_mondo_relaxed.owl Candida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009088 biolink:NamedThing deafness, neural, with atypical atopic dermatitis tmpte7i6ely_mondo_relaxed.owl deafness, neural, with atypical atopic dermatitis MESH:C565639|UMLS:C1857334|OMIM:221700 owl:Class MONDO:0011820 biolink:NamedThing scoliosis, isolated, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl IS2|scoliosis, isolated, susceptibility to, 2 OMIM:607354 owl:Class HGNC:28957 biolink:NamedThing EMC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001247 biolink:NamedThing social phobia An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. tmpte7i6ely_mondo_relaxed.owl social anxiety disorder EFO:1001917|ICD10:F40.10|ICD10:F40.1|DOID:11257|MESH:D010698|SCTID:25501002|ICD9:300.23|NCIT:C34927 owl:Class MONDO:0023182 biolink:NamedThing Franceschini Vardeu Guala syndrome tmpte7i6ely_mondo_relaxed.owl UMLS:C2931463|GARD:0002371|MESH:C537272 https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome owl:Class MONDO:0016566 biolink:NamedThing loiasis Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. tmpte7i6ely_mondo_relaxed.owl Loa loa filariasis|African eye worm Orphanet:2404|EFO:1000729|DOID:13523|ICD10:B74.3|GARD:0003283|MESH:D008118|UMLS:C0023968|SCTID:44250009|NCIT:C34784|MedDRA:10024797|ICD9:125.2 https://rarediseases.info.nih.gov/diseases/3283/loiasis owl:Class MONDO:0100325 biolink:NamedThing odontochondrodysplasia 1 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. tmpte7i6ely_mondo_relaxed.owl chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|odontochondrodysplasia|Goldblatt syndrome|Goldblatt chondrodysplasia|spondylometaphyseal dysplasia with dentinogenesis imperfecta|ODCD UMLS:CN200045|SCTID:717823001|OMIM:184260|Orphanet:166272|ICD10:Q78.8|GARD:0008717 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:1348 biolink:NamedThing SAMD9 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054588 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 2 tmpte7i6ely_mondo_relaxed.owl NSLH2|Noonan syndrome-like disorder with loose anagen hair 2 OMIM:617506 owl:Class MONDO:0032867 biolink:NamedThing pancreatic cancer, susceptibility to, 5 tmpte7i6ely_mondo_relaxed.owl PANCREATIC CANCER, SUSCEPTIBILITY TO, 5|PNCA5 OMIM:618680 owl:Class MONDO:0011900 biolink:NamedThing porokeratosis 4, disseminated superficial actinic type tmpte7i6ely_mondo_relaxed.owl porokeratosis 4, disseminated superficial actinic type|POROK4|porokeratosis, disseminated superficial actinic, 2 Orphanet:79152|UMLS:C1843180|OMIM:607728 owl:Class MONDO:0033309 biolink:NamedThing Joubert syndrome 32 tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 32|JBTS32 DOID:0080278|UMLS:CN596207|OMIM:617757 owl:Class MONDO:0001766 biolink:NamedThing eversion of lacrimal punctum tmpte7i6ely_mondo_relaxed.owl SCTID:28244003|ICD9:375.51|UMLS:C0155243|ICD10:H04.52|DOID:13651 owl:Class MONDO:0012837 biolink:NamedThing inflammatory bowel disease 15 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 15|inflammatory bowel disease type 15|IBD15 DOID:0110897|MESH:C567381|OMIM:612255|UMLS:C2677094 owl:Class UBERON:0013752 biolink:NamedThing diaphysis of metacarpal bone tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0026722 biolink:NamedThing Mullegama-Klein-Martinez syndrome tmpte7i6ely_mondo_relaxed.owl Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MULLEGAMA-KLEIN-MARTINEZ SYNDROME|MKMS OMIM:301022 owl:Class MONDO:0004904 biolink:NamedThing toxic maculopathy tmpte7i6ely_mondo_relaxed.owl toxic maculopathy of retina DOID:9867|SCTID:44115007|ICD10:H35.38|ICD9:362.55|UMLS:C0271086 owl:Class MONDO:0011926 biolink:NamedThing psoriasis 9, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS9|psoriasis 9, susceptibility to DOID:0111284|OMIM:607857 owl:Class MONDO:0009647 biolink:NamedThing Morquio syndrome C tmpte7i6ely_mondo_relaxed.owl Morquio syndrome type C|Morquio syndrome C|Morquio syndrome, Nonkeratosulfate-Excreting type OMIM:252300|Orphanet:582|MESH:C536247 owl:Class SO:0000325 biolink:NamedThing rRNA_large_subunit_primary_transcript A primary transcript encoding a large ribosomal subunit RNA. tmpte7i6ely_mondo_relaxed.owl 35S rRNA primary transcript|rRNA large subunit primary transcript owl:Class SO:0000209 biolink:NamedThing rRNA_primary_transcript A primary transcript encoding a ribosomal RNA. tmpte7i6ely_mondo_relaxed.owl rRNA primary transcript|ribosomal RNA primary transcript owl:Class MONDO:0017348 biolink:NamedThing lymphoepithelial-like carcinoma Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. tmpte7i6ely_mondo_relaxed.owl Orphanet:289682 owl:Class MONDO:0000237 biolink:NamedThing erysipeloid An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis. tmpte7i6ely_mondo_relaxed.owl DOID:0050061|ICD10:A26|MESH:D004887|UMLS:C1276801|SCTID:400105005 Editor note: consider merging with parent owl:Class MONDO:0008746 biolink:NamedThing oculocutaneous albinism type 2 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. tmpte7i6ely_mondo_relaxed.owl Albinoidism|oculocutaneous albinism type II|albinism, Brown oculocutaneous|albinism, oculocutaneous, type II|oculocutaneous albinism tyrosinase positive|albinism 2|oculocutaneous albinism, tyrosinase-positive|oculocutaneous albinism type 2|OCA2|albinism, oculocutaneous, type 2|oculocutaneous albinism, type 2|tyrosinase-positive oculocutaneous albinism|Brown oculocutaneous albinism UMLS:C0268495|OMIM:203200|GARD:0004038|Orphanet:79432|ICD10:E70.3|DOID:0070096|MESH:C537730 https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2 owl:Class MONDO:0006007 biolink:NamedThing vesicoureteral reflux Abnormal flow of urine from the urinary bladder back into the ureters. tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux (disease)|vesico-ureteral reflux|vesicoureteral reflux vesicoureteral reflux (disease) EFO:0007536|NCIT:C84467|Orphanet:289365|ICD9:593.7|HP:0000076|SCTID:197811007|UMLS:C0042580|ICD10:N13.70|ICD10:N13.7|DOID:9620|MESH:D014718 owl:Class MONDO:0008643 biolink:NamedThing veins, pattern of, on anterior thorax tmpte7i6ely_mondo_relaxed.owl veins, pattern of, on anterior thorax OMIM:192400 owl:Class MONDO:0019549 biolink:NamedThing severe early-onset axonal neuropathy due to MFN2 deficiency Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. tmpte7i6ely_mondo_relaxed.owl autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|SEOAN due to MFN2 deficiency|AR-CMT2, Ouvrier type ICD10:G60.0|Orphanet:90118|UMLS:CN206378|SCTID:766977007 owl:Class MONDO:0020252 biolink:NamedThing essential strabismus tmpte7i6ely_mondo_relaxed.owl Orphanet:98682 owl:Class MONDO:0017237 biolink:NamedThing hereditary sensorimotor neuropathy with hyperelastic skin tmpte7i6ely_mondo_relaxed.owl GARD:0011010|UMLS:CN202738|Orphanet:280598|OMIM:608895|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin owl:Class MONDO:0009625 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 1 tmpte7i6ely_mondo_relaxed.owl DMJDS1|microcephaly, seizures, spasticity, and brain calcifications|recessive microcephaly with spastic quadriplegia|microcephaly with spastic quadriplegia|MISSBC GARD:0008510|UMLS:C1855055|OMIM:251280|MESH:C537546 https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia owl:Class MONDO:0022609 biolink:NamedThing bronchial adenomas/carcinoids childhood tmpte7i6ely_mondo_relaxed.owl bronchial carcinoids GARD:0009313|UMLS:C4013426 https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood owl:Class MONDO:0019159 biolink:NamedThing Loeffler endocarditis Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. tmpte7i6ely_mondo_relaxed.owl eosinophilic endomyocardial disease|eosinophilic endocarditis MedDRA:10052841|NCIT:C27044|SCTID:449829009|Orphanet:75566|DOID:396|ICD10:I42.3 owl:Class MONDO:0021559 biolink:NamedThing non-autoimmune hemolytic anemia Hemolytic anemia that is not mediated by immune mechanisms. tmpte7i6ely_mondo_relaxed.owl Non-autoimmune hemolytic anemia|Non-Autoimmune Hemolytic Anemia|non-autoimmune hemolytic anemia SCTID:191216004|ICD9:283.19|ICD9:283.10|UMLS:C0028283|NCIT:C34853 owl:Class MONDO:0015354 biolink:NamedThing hereditary sensory and autonomic neuropathy with deafness and global delay This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. tmpte7i6ely_mondo_relaxed.owl HSAN with deafness and global delay SCTID:717826009|UMLS:CN226662|ICD10:G60.8|Orphanet:139573|UMLS:C4303566 owl:Class MONDO:0017162 biolink:NamedThing imperforate oropharynx-costo vetebral anomalies syndrome Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. tmpte7i6ely_mondo_relaxed.owl imperforate oropharynx-costo vetebral anomalies|imperforate oropharynx-costovertebral anomalies syndrome|Seghers syndrome GARD:0002989|Orphanet:2759|UMLS:CN202584 owl:Class MONDO:0003858 biolink:NamedThing anterior optic tract meningioma A meningioma that affects the anterior visual pathway. tmpte7i6ely_mondo_relaxed.owl anterior visual pathway meningioma DOID:6334|NCIT:C7538|UMLS:C1332308 owl:Class HGNC:5166 biolink:NamedThing HPV18I1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008089 biolink:NamedThing neutropenia, chronic familial tmpte7i6ely_mondo_relaxed.owl chronic familial neutropenia|neutropenia, chronic familial|leukopenia, benign familial|leukopenia benign familial|neutropenia chronic familial UMLS:C3665676|OMIM:162700|MESH:C535815|ICD9:288.09|GARD:0003983|SCTID:234576008 https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial owl:Class HGNC:15574 biolink:NamedThing RB1CC1 tmpte7i6ely_mondo_relaxed.owl owl:Class SO:0001267 biolink:NamedThing snoRNA_gene A gene encoding a small noncoding RNA that participates in the processing or chemical modifications of many RNAs, including ribosomal RNAs and spliceosomal RNAs. tmpte7i6ely_mondo_relaxed.owl snoRNA gene owl:Class MONDO:0032897 biolink:NamedThing intellectual developmental disorder with hypotonia and behavioral abnormalities tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES|IDDHBA OMIM:618748 owl:Class MONDO:0012174 biolink:NamedThing peripheral cone dystrophy tmpte7i6ely_mondo_relaxed.owl peripheral cone dystrophy MESH:C563813|UMLS:C1836946|OMIM:609021 owl:Class CHEBI:131699 biolink:NamedThing EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7). tmpte7i6ely_mondo_relaxed.owl deoxyribonucleic polymerase I inhibitors|EC 2.7.7.7 inhibitors|DNA polymerase III inhibitor|deoxyribonucleic polymerase I inhibitor|duplicase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitor|deoxyribonucleic acid polymerase inhibitors|deoxyribonucleic polymerase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitors|Taq Pol I inhibitor|deoxyribonucleic polymerase inhibitor|DNA polymerase beta inhibitors|deoxyribonucleic duplicase inhibitors|Klenow fragment inhibitors|Tca DNA polymerase inhibitors|DNA-dependent DNA polymerase inhibitor|deoxyribonucleic duplicase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitor|DNA nucleotidyltransferase (DNA-directed) inhibitor|DNA polymerase inhibitors|Taq DNA polymerase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitors|EC 2.7.7.7 inhibitor|DNA duplicase inhibitor|sequenase inhibitors|Taq DNA polymerase inhibitors|DNA polymerase alpha inhibitors|DNA replicase inhibitor|deoxyribonucleic acid duplicase inhibitor|DNA nucleotidyltransferase inhibitor|DNA polymerase inhibitor|DNA polymerase beta inhibitor|deoxynucleate polymerase inhibitors|DNA polymerase alpha inhibitor|DNA polymerase III inhibitors|DNA replicase inhibitors|sequenase inhibitor|duplicase inhibitor|DNA nucleotidyltransferase (DNA-directed) inhibitors|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitor|deoxyribonucleic acid duplicase inhibitors|DNA polymerase gamma inhibitor|DNA polymerase I inhibitors|DNA polymerase I inhibitor|Taq Pol I inhibitors|DNA-dependent DNA polymerase inhibitors|EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitors|deoxyribonucleic acid polymerase inhibitor|Tca DNA polymerase inhibitor|deoxynucleate polymerase inhibitor|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitors|Klenow fragment inhibitor|DNA nucleotidyltransferase inhibitors|DNA polymerase II inhibitor|DNA polymerase gamma inhibitors|DNA polymerase II inhibitors|DNA duplicase inhibitors owl:Class MONDO:0008351 biolink:NamedThing pupil, egg-shaped tmpte7i6ely_mondo_relaxed.owl pupil, egg-shaped|ovoid pupils|egg shaped pupils 2022-04-01 MESH:C566731|GARD:0008291|OMIM:178800 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none https://rarediseases.info.nih.gov/diseases/8291/egg-shaped-pupils owl:Class MONDO:0011710 biolink:NamedThing specific language impairment 1 tmpte7i6ely_mondo_relaxed.owl specific language impairment quantitative trait locus on chromosome 16|SLI1|specific language impairment 1 OMIM:606711|UMLS:C1847614 owl:Class HGNC:952 biolink:NamedThing BARD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011682 biolink:NamedThing episodic ataxia type 3 Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. tmpte7i6ely_mondo_relaxed.owl episodic ataxia-vertigo-tinnitus-myokymia syndrome|episodic ataxia, type 3|EA3|ataxia, episodic, with vertigo and tinnitus Orphanet:79135|UMLS:C1847839|SCTID:718755009|DOID:0050991|MESH:C564697|OMIM:606554|ICD10:G11.8 owl:Class ECTO:7000064 biolink:NamedThing exposure to air A exposure event involving the interaction of an exposure receptor to air. tmpte7i6ely_mondo_relaxed.owl air exposure owl:Class HGNC:20492 biolink:NamedThing COA8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009183 biolink:NamedThing junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa junctionalis with pyloric atresia|Carmi syndrome|junctional epidermolysis bullosa-pyloric atresia syndrome|junctional epidermolysis bullosa - pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa, junctional, with pyloric atresia|epidermolysis bullosa JUNCTIONALIS with pyloric atresia|JEB-PA|aplasia cutis congenita with gastrointestinal atresia|epidermolysis bullosa with pyloric atresia|JEB-Pa|EB-Pa-ACC|junctional epidermolysis bullosa with pyloric atresia UMLS:C1856934|ICD10:Q81.8|Orphanet:79403|DOID:0060733|OMIM:226730|MESH:C535377|GARD:0009694 https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia owl:Class MONDO:0012079 biolink:NamedThing asperger syndrome, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 2|ASPG2 OMIM:608631|UMLS:C1837697 owl:Class MONDO:0007162 biolink:NamedThing asymmetric short stature syndrome tmpte7i6ely_mondo_relaxed.owl asymmetric short stature syndrome MESH:C566248|UMLS:C1862458|OMIM:108450 owl:Class MONDO:0019415 biolink:NamedThing fetal and neonatal alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids. tmpte7i6ely_mondo_relaxed.owl NAIT SCTID:240305000|Orphanet:853|ICD10:P61.0|GARD:0002295 https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia owl:Class MONDO:0004268 biolink:NamedThing subareolar duct papillomatosis tmpte7i6ely_mondo_relaxed.owl subareolar duct papillomatosis DOID:7533|NCIT:C9008 owl:Class MONDO:0012643 biolink:NamedThing hereditary spastic paraplegia 32 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. tmpte7i6ely_mondo_relaxed.owl spastic paraplegia 32|spastic paraplegia 32, autosomal recessive|SPG32|autosomal recessive spastic paraplegia type 32|hereditary spastic paraplegia type 32|autosomal recessive spastic paraplegia 32 UMLS:C1970009|ICD10:G11.4|Orphanet:171622|DOID:0110783|UMLS:C4511958|OMIM:611252|MESH:C566983|SCTID:726606003|GARD:0012749 owl:Class MONDO:0008916 biolink:NamedThing cardiomyopathy associated with myopathy and sudden death tmpte7i6ely_mondo_relaxed.owl cardiomyopathy associated with myopathy and sudden death MESH:C565881|UMLS:C1859328|OMIM:212130 owl:Class MONDO:0019458 biolink:NamedThing acute basophilic leukemia A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. tmpte7i6ely_mondo_relaxed.owl basophilic leukemia|leukemia basophilic EFO:0003029|ONCOTREE:ABL|ICD10:C94.7|UMLS:C0221292|Orphanet:86849|SCTID:307592006|UMLS:C0023437|MESH:D015471|ICDO:9870/3|NCIT:C3164 owl:Class MONDO:0007005 biolink:NamedThing ulcerative proctosigmoiditis Inflammation of the rectum and the distal portion of the colon. tmpte7i6ely_mondo_relaxed.owl SCTID:52506002|EFO:1001223|ICD9:556.3 owl:Class MONDO:0008238 biolink:NamedThing phosphatase, acid, of tissues tmpte7i6ely_mondo_relaxed.owl phosphatase, acid, of tissues|Acp3--Alpha polypeptide|lysosomal acid phosphatase OMIM:171660 owl:Class HGNC:3018 biolink:NamedThing SLC26A3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015037 biolink:NamedThing lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. tmpte7i6ely_mondo_relaxed.owl Orphanet:100014|SCTID:715821000|UMLS:C4274991|UMLS:CN228903|ICD10:Q04.3 owl:Class NCBITaxon:41827 biolink:NamedThing Culicoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043170 biolink:NamedThing Pavone Fiumara Rizzo syndrome tmpte7i6ely_mondo_relaxed.owl syndactyly type 1 with cataracts and intellectual disability|Pavone Fiumara Rizzo syndrome|syndactyly type 1 with cataracts and mental retardation UMLS:C2931172|GARD:0004262|MESH:C536313 owl:Class MONDO:0011993 biolink:NamedThing aspirin resistance tmpte7i6ely_mondo_relaxed.owl aspirin, resistance to Cardioprotective Effect of|aspirin, resistance to Antithrombotic Effect of|aspirin resistance OMIM:608223 owl:Class MONDO:0007430 biolink:NamedThing dens evaginatus tmpte7i6ely_mondo_relaxed.owl dens evaginatus OMIM:125280|SCTID:63691004 owl:Class MONDO:0009127 biolink:NamedThing dwarfism, low-birth-weight type, with unresponsiveness to growth hormone tmpte7i6ely_mondo_relaxed.owl dwarfism, low-birth-weight type with unresponsiveness to growth hormone|dwarfism, low-birth-weight type, with unresponsiveness to growth hormone GARD:0003293|MESH:C565615|OMIM:223500|UMLS:C1857197 https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone owl:Class MONDO:0000485 biolink:NamedThing spasmodic dystonia A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx. tmpte7i6ely_mondo_relaxed.owl adductor spasmodic dysphonia|spastic dysphonia|spasmodic dysphonia|laryngeal dystonia|laryngeal dyskinesia|abductor spasmodic dysphonia|mixed spasmodic dysphonia (type) Orphanet:93961|UMLS:C1963946|DOID:0050844|ICD9:478.79|MESH:D055154|GARD:0007668|SCTID:3331000119108 owl:Class MONDO:0001950 biolink:NamedThing corneal ectasia tmpte7i6ely_mondo_relaxed.owl ICD9:371.71|SCTID:14748007|DOID:1436|UMLS:C0155135|ICD10:H18.71 owl:Class MONDO:0008253 biolink:NamedThing platelet aggregation, spontaneous tmpte7i6ely_mondo_relaxed.owl platelet aggregation, spontaneous OMIM:173400|UMLS:C1868263|MESH:C566800 owl:Class MONDO:0016583 biolink:NamedThing familial intestinal malrotation-facial anomalies syndrome tmpte7i6ely_mondo_relaxed.owl Stalker Chitayat syndrome|intestinal malrotation facial anomalies familial type|Stalker-Chitayat syndrome GARD:0005000|ICD10:Q43.3|Orphanet:2454|OMIM:193250 owl:Class MONDO:0022982 biolink:NamedThing die Smulders Vles Fryns syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001858 https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome owl:Class MONDO:0025483 biolink:NamedThing mammary neoplasms, animal Tumors or cancer of the mammary gland in animals (mammary glands, animal). tmpte7i6ely_mondo_relaxed.owl mammary carcinomas, animal|neoplasms, animal mammary|neoplasm, animal mammary|neoplasm, mammary|neoplasms, mammary|mammary carcinoma, animal|animal mammary carcinoma|animal mammary neoplasms|animal mammary neoplasm|animal mammary carcinomas|carcinomas, animal mammary|mammary neoplasm|carcinoma, animal mammary|mammary neoplasms|mammary neoplasm, animal MESH:D015674 owl:Class NCBITaxon:55193 biolink:NamedThing Malassezia tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015808 biolink:NamedThing folliculotropic mycosis fungoides Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area. tmpte7i6ely_mondo_relaxed.owl follicular mucinosis type mycosis fungoides|mycosis fungoides-associated follicular mucinosis|follicular mycosis fungoides|alopecia mucinosa (t cell lymphoma)|folliculotropic mycosis fungoides UMLS:C1627767|ICD9:701.8|Orphanet:178512|NCIT:C35685|SCTID:404109006|ICD10:C84.0 owl:Class MONDO:0017507 biolink:NamedThing congenital absence/hypoplasia of thumb, bilateral Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias. tmpte7i6ely_mondo_relaxed.owl thumb hypodactyly, bilateral|thumb oligodactyly, bilateral ICD10:Q71.3|Orphanet:295112 owl:Class MONDO:0008616 biolink:NamedThing twinning due to superfetation tmpte7i6ely_mondo_relaxed.owl twinning due to superfetation|superfetation twinning 2022-04-01 MESH:C566018|OMIM:191250 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0004019 biolink:NamedThing oxyphilic endometrial endometrioid adenocarcinoma A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells. tmpte7i6ely_mondo_relaxed.owl oxyphilic endometrial endometrioid adenocarcinoma UMLS:C1518768|DOID:6865|NCIT:C27849 owl:Class HP:0002921 biolink:NamedThing Abnormality of the cerebrospinal fluid An abnormality of the cerebrospinal fluid (CSF). tmpte7i6ely_mondo_relaxed.owl Abnormality of the CSF|Abnormal CSF findings UMLS:C0151583 The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). human_phenotype owl:Class MONDO:0003907 biolink:NamedThing ovarian yolk sac tumor, polyvesicular vitelline pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. tmpte7i6ely_mondo_relaxed.owl polyvesicular vitelline pattern ovarian yolk sac tumor|ovarian yolk sac tumor, polyvesicular vitelline pattern UMLS:C1518749|DOID:6514|NCIT:C39987 owl:Class MONDO:0022780 biolink:NamedThing cleft lip palate pituitary deficiency tmpte7i6ely_mondo_relaxed.owl GARD:0001382 https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency owl:Class HGNC:17208 biolink:NamedThing BICD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006907 biolink:NamedThing pilar sheath acanthoma A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes. tmpte7i6ely_mondo_relaxed.owl Pilar sheath acanthoma|acanthoma of Pilar sheath|Infundibuloisthmicoma|acanthoma of the Pilar sheath NCIT:C4468|MESH:D049309|SCTID:254693008|EFO:1001107|DOID:4322|UMLS:C0346005 owl:Class MONDO:0006531 biolink:NamedThing cholesteatoma of attic A cholesteatoma in the attic tmpte7i6ely_mondo_relaxed.owl ICD10:H71.00|DOID:10963|UMLS:C0155489|SCTID:38708003|EFO:1000676|ICD9:385.31|ICD10:H71.0 owl:Class MONDO:0020420 biolink:NamedThing pulmonary branch stenosis Narrowing of the lumen of the right or left pulmonary artery branch. tmpte7i6ely_mondo_relaxed.owl pulmonary artery stenosis, branch (not PPS)|peripheral pulmonary stenosis|branch pulmonary artery stenosis UMLS:C2062889|ICD10:Q25.6|NCIT:C99144|Orphanet:99084 owl:Class MONDO:0010841 biolink:NamedThing Waardenburg syndrome type 2B tmpte7i6ely_mondo_relaxed.owl Waardenburg syndrome, type 2B|Waardenburg syndrome type IIB|WS2B OMIM:600193|UMLS:C1838447|Orphanet:3440|DOID:0110947|MESH:C536465|Orphanet:895|GARD:0005522 https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b owl:Class MONDO:0008363 biolink:NamedThing raindrop hypopigmentation tmpte7i6ely_mondo_relaxed.owl raindrop hypopigmentation MESH:C566724|OMIM:179500 owl:Class MONDO:0017491 biolink:NamedThing tibial hemimelia, bilateral tmpte7i6ely_mondo_relaxed.owl tibial longitudinal meromelia, bilateral ICD10:Q72.5|Orphanet:295079|UMLS:CN203229 owl:Class MONDO:0012874 biolink:NamedThing porokeratosis 6, disseminated superficial actinic type tmpte7i6ely_mondo_relaxed.owl porokeratosis 6, disseminated superficial actinic type|POROK6|porokeratosis, disseminated superficial actinic, 4|porokeratosis 6, disseminated superficial|porokeratosis 6, multiple types Orphanet:79152|OMIM:612353|UMLS:C2676508|MESH:C567339 owl:Class NCBITaxon:32003 biolink:NamedThing Nitrosomonadales tmpte7i6ely_mondo_relaxed.owl Ammonia-oxidizing bacteria|Ammonia oxidizing bacteria PMID:11760943|PMID:10028253|PMID:25017294|GC_ID:11|PMID:28581923|PMID:16403855|PMID:25701846 NCBITaxon:206350|NCBITaxon:713636|NCBITaxon:1559979 ncbi_taxonomy owl:Class MONDO:0001349 biolink:NamedThing odontoclasia tmpte7i6ely_mondo_relaxed.owl SCTID:196305005|UMLS:C0341004|ICD9:521.05|DOID:11736|ICD10:K02.4 owl:Class MONDO:0060714 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 2 tmpte7i6ely_mondo_relaxed.owl HFTC2|tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM:617993 owl:Class MONDO:0018430 biolink:NamedThing partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. tmpte7i6ely_mondo_relaxed.owl Orphanet:401959|ICD10:Q04.3|UMLS:CN226145 owl:Class HGNC:7097 biolink:NamedThing MIF tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008392 biolink:NamedThing Roussy-Levy syndrome tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth disease (variant)|Roussy-levy syndrome|hereditary areflexic dystasia, Roussy-Lévy type|Roussy levy syndrome|Roussy-levy disease|Roussy-Lévy syndrome|hereditary areflexic dystasia|Roussy-levy hereditary areflexic dystasia|Roussy levy hereditary areflexic dystasia|HMSN I|hereditary motor sensory neuropathy I|Charcot-Marie-Tooth-Roussy-levy disease|hereditary areflexic dystasia, Roussy-levy type GARD:0004741|ICD10:G60.0|SCTID:45853006|ICD9:334.3|OMIM:180800|Orphanet:3115 owl:Class MONDO:0011238 biolink:NamedThing chondrodysplasia punctata, brachytelephalangic, autosomal tmpte7i6ely_mondo_relaxed.owl chondrodysplasia punctata, brachytelephalangic, autosomal|brachytelephalangic chondrodysplasia punctata OMIM:602497 owl:Class MONDO:0100407 biolink:NamedThing acute myeloid leukemia, t(11;15)(p15;q35) Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.) tmpte7i6ely_mondo_relaxed.owl AML, t(11;15)(p15;q35) NCIT:C131504|NCIT:C131505 owl:Class MONDO:0011338 biolink:NamedThing Omenn syndrome An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). tmpte7i6ely_mondo_relaxed.owl severe combined immunodeficiency with hypereosinophilia|reticuloendotheliosis familial with eosinophilia|Omenn syndrome|combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia NCIT:C61240|OMIM:603554|SCTID:722067005|MedDRA:10069097|ICD10:D81.8|GARD:0008198|Orphanet:39041|DOID:0060010|UMLS:C1801959 https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome owl:Class MONDO:0029145 biolink:NamedThing orofacial cleft 8 tmpte7i6ely_mondo_relaxed.owl Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8|OFC8|OROFACIAL CLEFT 8 DOID:0080401|OMIM:618149 owl:Class MONDO:0008397 biolink:NamedThing aplasia of lacrimal and salivary glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. tmpte7i6ely_mondo_relaxed.owl salivary glands, absence of, include|aplasia of lacrimal and salivary glands|ALSG|congenital absence of lacrimal puncta and salivary glands|salivary glands, absence of|parotid aplasia or hypoplasia OMIM:180920|ICD10:Q38.4|DOID:0111549|SCTID:715656004|ICD10:Q10.4|Orphanet:86815 owl:Class NCBITaxon:10566 biolink:NamedThing Human papillomavirus tmpte7i6ely_mondo_relaxed.owl Human Papilloma Virus|human papillomavirus HPV GC_ID:1 ncbi_taxonomy owl:Class HGNC:3025 biolink:NamedThing DRD4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001728 biolink:NamedThing active vestibular Meniere disease tmpte7i6ely_mondo_relaxed.owl active vestibular Meniere's disease|vestibular active Mnire's disease|active Meniere's disease, vestibular|active vestibular Meniere disease DOID:13491|ICD9:386.03|UMLS:C0155498|SCTID:194350005 owl:Class HGNC:2649 biolink:NamedThing CYP51A1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003035 biolink:NamedThing ovarian angiosarcoma A malignant vascular neoplasm arising from the ovary. tmpte7i6ely_mondo_relaxed.owl hemangiosarcoma of ovary|angiosarcoma of ovary|ovarian hemangiosarcoma|ovary angiosarcoma (disease)|hemangiosarcoma of the ovary|angiosarcoma of the ovary|angiosarcoma (disease) of ovary UMLS:C1335152|DOID:4527|NCIT:C5232 owl:Class MONDO:0024465 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 2 tmpte7i6ely_mondo_relaxed.owl surfactant metabolism dysfunction, pulmonary, 2|pulmonary alveolar proteinosis, congenital, 2|desquamative interstitial pneumonitis due to surfactant Protein C deficiency|SMDP2|interstitial lung disease due to surfactant Protein C deficiency OMIM:610913|Orphanet:217566|Orphanet:440392 owl:Class CL:0000029 biolink:NamedThing neural crest derived neuron tmpte7i6ely_mondo_relaxed.owl neuron neural crest derived cell owl:Class MONDO:0008349 biolink:NamedThing pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities tmpte7i6ely_mondo_relaxed.owl Ciuffo syndrome|pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities UMLS:C1867407|MESH:C566733|OMIM:178650 owl:Class HGNC:838 biolink:NamedThing ATP5F1E tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012030 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 43 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 43|autosomal dominant nonsyndromic deafness type 43|autosomal dominant nonsyndromic deafness 43|autosomal dominant deafness 43|DFNA43 UMLS:C1842108|OMIM:608394|DOID:0110568|MESH:C564246|ICD10:H90.3 owl:Class MONDO:0023067 biolink:NamedThing endemic Kaposi sarcoma tmpte7i6ely_mondo_relaxed.owl African/endemic Kaposi sarcoma|African Kaposi sarcoma GARD:0010431 https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma owl:Class MONDO:0019645 biolink:NamedThing renal dysplasia, bilateral Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. tmpte7i6ely_mondo_relaxed.owl bilateral renal dysplasia ICD10:Q61.4|SCTID:204950001|HP:0012582|Orphanet:93173 owl:Class MONDO:0015298 biolink:NamedThing pellucid marginal degeneration tmpte7i6ely_mondo_relaxed.owl UMLS:CN199253|Orphanet:137672|ICD10:H18.7|GARD:0011895 https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration owl:Class MONDO:0024498 biolink:NamedThing glioma susceptibility 1 tmpte7i6ely_mondo_relaxed.owl subependymoma|glioma of brain, familial|astrocytoma|oligodendroglioma|glioblastoma multiforme|GLM1|ependymoma|glioma susceptibility 1 Orphanet:182067|OMIM:137800 owl:Class MONDO:0018548 biolink:NamedThing acute poisoning by drugs with membrane-stabilizing effect Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine. tmpte7i6ely_mondo_relaxed.owl Orphanet:43119|UMLS:CN227538 owl:Class MONDO:0008141 biolink:NamedThing ossicular malformations, familial tmpte7i6ely_mondo_relaxed.owl familial ossicular malformations|familial middle ear ossicular anomalies|ossicular malformations, familial UMLS:C1833790|GARD:0008184|OMIM:165680|MESH:C537142 https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial owl:Class MONDO:0017984 biolink:NamedThing familial lambdoid synostosis Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. tmpte7i6ely_mondo_relaxed.owl craniosynostosis, lambdoidal|lambdoid synostosis GARD:0003168|OMIM:600775|UMLS:CN204142|ICD10:Q75.0|SCTID:766884000|Orphanet:3267 owl:Class MONDO:0015796 biolink:NamedThing acute lung injury A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). tmpte7i6ely_mondo_relaxed.owl MESH:D055371|MedDRA:10069351|NCIT:C155766|SCTID:315345002|EFO:0004610|Orphanet:178320 owl:Class MONDO:0007767 biolink:NamedThing hyperparathyroidism 1 tmpte7i6ely_mondo_relaxed.owl hyperparathyroidism type 1|parathyroid adenoma, familial|hyperparathyroidism, familial isolated primary|HRPT1|hyperparathyroidism 1 UMLS:C1840402|Orphanet:99879|Orphanet:99877|OMIM:145000 owl:Class MONDO:0009976 biolink:NamedThing retinal degeneration and epilepsy tmpte7i6ely_mondo_relaxed.owl retinal degeneration and epilepsy UMLS:C1849416|MESH:C564847|OMIM:267740 owl:Class MONDO:0020840 biolink:NamedThing pulmonary alveolar proteinosis with hypogammaglobulinemia tmpte7i6ely_mondo_relaxed.owl PAPHG|pulmonary alveolar proteinosis with hypogammaglobulinemia UMLS:CN248786|OMIM:618042 owl:Class MONDO:0016031 biolink:NamedThing facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome tmpte7i6ely_mondo_relaxed.owl faces syndrome|Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies ICD10:Q87.0|GARD:0002221|MESH:C536384|UMLS:C2931183|Orphanet:1969 owl:Class MONDO:0018203 biolink:NamedThing LMNA-related cardiocutaneous progeria syndrome A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. tmpte7i6ely_mondo_relaxed.owl LCPS UMLS:CN204714|Orphanet:363618|ICD10:E34.8 owl:Class HP:0010295 biolink:NamedThing Aplasia/Hypoplasia of the tongue Absence or underdevelopment of the tongue. tmpte7i6ely_mondo_relaxed.owl Lingual aplasia/hypoplasia UMLS:C4023916|UMLS:C4280384 peter 2009-07-12T11:41:04Z human_phenotype owl:Class MONDO:0019990 biolink:NamedThing non-amyloid fibrillary glomerulopathy Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. tmpte7i6ely_mondo_relaxed.owl fibrillary glomerulonephritis|non-amyloid fibrillary glomerulonephritis|Congo red-negative amyloidosis-like glomerulopathy GARD:0012740|UMLS:C4273674|ICD10:N03.6|Orphanet:97566|SCTID:718192000 owl:Class MONDO:0030513 biolink:NamedThing dystonia 33 tmpte7i6ely_mondo_relaxed.owl DYT33 OMIM:619687 owl:Class MONDO:0030929 biolink:NamedThing microcephaly 27, primary, autosomal dominant tmpte7i6ely_mondo_relaxed.owl MCPH27|microcephaly 27, primary, autosomal dominant OMIM:619180 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0012532 biolink:NamedThing hereditary hemorrhagic telangiectasia type 4 tmpte7i6ely_mondo_relaxed.owl HHT4|telangiectasia, hereditary hemorrhagic, type 4 MESH:C565691|OMIM:610655|GARD:0010615|Orphanet:774 https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4 owl:Class MONDO:0001086 biolink:NamedThing partial optic atrophy tmpte7i6ely_mondo_relaxed.owl DOID:10631|ICD9:377.15|UMLS:C0155295|SCTID:111527005 owl:Class MONDO:0011345 biolink:NamedThing facial dysmorphism, selective tooth agenesis, and choroid calcification tmpte7i6ely_mondo_relaxed.owl facial dysmorphism, selective tooth agenesis, and choroid calcification UMLS:C1970343|OMIM:603589|MESH:C567039 owl:Class MONDO:0100024 biolink:NamedThing self-limited familial and non-familial infantile seizures This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life. tmpte7i6ely_mondo_relaxed.owl 2018-06-22 23:46:09+00:00 owl:Class MONDO:0009855 biolink:NamedThing d-bifunctional protein deficiency A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease. tmpte7i6ely_mondo_relaxed.owl peroxisomal multifunctional enzyme deficiency|peroxisomal bifunctional enzyme deficiency|17-beta-hydroxysteroid dehydrogenase IV deficiency|17-beta-hydroxysteroid dehydrogenase 4 deficiency|DBP deficiency|D-bifunctional enzyme deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|HSD17B4 deficiency|d-bifunctional protein deficiency|pseudo-Zellweger syndrome|Pbfe deficiency|multifunctional enzyme deficiency|bifunctional enzyme deficiency UMLS:CN203333|UMLS:C0342870|UMLS:C1533628|NCIT:C119676|ICD10:E71.3|DOID:0090031|SCTID:238068007|OMIM:261515|ICD9:277.6|Orphanet:300|GARD:0004539 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency owl:Class MONDO:0017823 biolink:NamedThing somatomammotropinoma tmpte7i6ely_mondo_relaxed.owl Somatoprolactinoma|GH and PRL cosecreting pituitary adenoma|Somatolactotropinoma|Growth hormone and prolactin cosecreting pituitary adenoma UMLS:CN203793|ICD10:D35.2|Orphanet:314769 owl:Class MONDO:0030055 biolink:NamedThing sorbitol dehydrogenase deficiency with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl SORDD|SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY|Sorbitol Dehydrogenase Deficiency|sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912 owl:Class MONDO:0002086 biolink:NamedThing clear cell acanthoma An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. tmpte7i6ely_mondo_relaxed.owl clear cell acanthoma (morphologic abnormality)|Degos acanthoma|pale (clear cell) acanthoma DOID:172|NCIT:C97041|MESH:D049309|SCTID:254670002|UMLS:C0333992 owl:Class MONDO:0011470 biolink:NamedThing hyperlipidemia, combined, 2 tmpte7i6ely_mondo_relaxed.owl hyperlipidemia, familial combined, 2|hyperlipidemia, combined, 2|hyperlipidemia, combined, type 2|hyplip2 MESH:C565766|OMIM:604499|UMLS:C1858308 owl:Class MONDO:0019479 biolink:NamedThing histiocytic sarcoma An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. tmpte7i6ely_mondo_relaxed.owl sarcoma, histiocytic, malignant|histiocytic sarcoma ICD9:171.9|ICD10:C96.A|UMLS:C0334663|MESH:D054747|ONCOTREE:HS|Orphanet:86896|ICD10:C96.8|NCIT:C27349|ICDO:9755/3|SCTID:109988003 owl:Class FOODON:00002505 biolink:NamedThing dairy cattle Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made. This class covers both male and female members of a dairy breed. tmpte7i6ely_mondo_relaxed.owl owl:Class FOODON:03420293 biolink:NamedThing fruit core (anatomical part) The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's) tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100397 biolink:NamedThing acute myeloid leukemia, t(9;22)(q34.1;q11.2) Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.) tmpte7i6ely_mondo_relaxed.owl AML, t(9;22)(q34;q11)|AML, t(9;22)(q34.1;q11.2)|AML, t(9;22)(q34;q11.2) NCIT:C13271 owl:Class MONDO:0006812 biolink:NamedThing intracranial vasospasm Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain). tmpte7i6ely_mondo_relaxed.owl UMLS:C0751895|DOID:13100|EFO:1000994|MESH:D020301 owl:Class MONDO:0016332 biolink:NamedThing hypertrophic cardiomyopathy due to intensive athletic training tmpte7i6ely_mondo_relaxed.owl ICD10:I42.2|UMLS:CN226904|Orphanet:217601 owl:Class MONDO:0024527 biolink:NamedThing glomerulopathy with fibronectin deposits 1 tmpte7i6ely_mondo_relaxed.owl lobular glomerulopathy, familial|glomerulopathy with giant fibrillar deposits|GFND1|glomerulopathy with fibronectin deposits 1 Orphanet:84090|OMIM:137950 owl:Class MONDO:0100398 biolink:NamedThing acute myeloid leukemia, inv(3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) tmpte7i6ely_mondo_relaxed.owl AML, inv(3)(q21q26.2)|AML, inv(3)(q21.3;q26.2)|AML, inv(3)(q21.3q26.2) NCIT:C122716|NCIT:C36407 owl:Class MONDO:0002990 biolink:NamedThing benign deep fibrous histiocytoma A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases. tmpte7i6ely_mondo_relaxed.owl deep benign fibrous histiocytoma|benign deep fibrous histiocytoma DOID:4419|NCIT:C6492|UMLS:C1266125 owl:Class MONDO:0030059 biolink:NamedThing developmental and epileptic encephalopathy, 87 tmpte7i6ely_mondo_relaxed.owl DEE87|EIEE87|epileptic encephalopathy, early infantile, 87|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 OMIM:618916 owl:Class MONDO:0017403 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, right dominant form tmpte7i6ely_mondo_relaxed.owl familial isolated arrhythmogenic ventricular dysplasia, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form Orphanet:293910|ICD10:I42.8|OMIM:107970|UMLS:CN203147|OMIM:610193 owl:Class MONDO:0024349 biolink:NamedThing pityriasis alba tmpte7i6ely_mondo_relaxed.owl pityriasis alba ICD9:696.5|SCTID:402296004 owl:Class MONDO:0009373 biolink:NamedThing seizures-intellectual disability due to hydroxylysinuria syndrome Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. tmpte7i6ely_mondo_relaxed.owl hydroxylysinuria UMLS:C1855986|OMIM:236900|Orphanet:79156|MESH:C565502|ICD10:E72.3 owl:Class MONDO:0000682 biolink:NamedThing time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. tmpte7i6ely_mondo_relaxed.owl DOID:0060152 owl:Class MONDO:0003459 biolink:NamedThing cervical adenofibroma A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements. tmpte7i6ely_mondo_relaxed.owl DOID:5476|UMLS:C1516402|NCIT:C40230 owl:Class PATO:0000970 biolink:NamedThing permeability A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion). tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0100461 biolink:NamedThing gastrointestinal defects and immunodeficiency syndrome A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. tmpte7i6ely_mondo_relaxed.owl multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency|intestinal atresia, multiple|MINAT|combined immunodeficiency-enteropathy spectrum|FIPA|CID-MIA/early-onset IBD|familial intestinal polyatresia syndrome 2022-05-01 Orphanet:436252|OMIM:243150 This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030831. MONDO:800030 gastrointestinal defects and immunodeficiency syndrome 1 will be added as the more specific subclass. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4167 owl:Class MONDO:0022007 biolink:NamedThing water intoxication A condition resulting from the excessive retention of water with sodium depletion. tmpte7i6ely_mondo_relaxed.owl WATER INTOX|Water intoxication|water intoxication syndrome|Water intoxication syndrome|Water Intoxication SCTID:71785001|UMLS:C0043049|MESH:D014869 owl:Class MONDO:0015833 biolink:NamedThing pseudounicornuate uterus Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. tmpte7i6ely_mondo_relaxed.owl incomplete unilateral Mullerian aplasia|incomplete unilateral aplasia of the Mullerian ducts|incomplete unilateral aplasia of the Müllerian ducts|unicornuate uterus with rudimentary horn|incomplete unilateral Müllerian aplasia ICD10:Q51.4|Orphanet:180079 owl:Class MONDO:0015094 biolink:NamedThing subependymal nodular heterotopia tmpte7i6ely_mondo_relaxed.owl ICD9:742.4|MedDRA:10071150|SCTID:699812002|UMLS:C3160906|GARD:0005050|ICD10:Q04.8|Orphanet:101030 https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia owl:Class MONDO:0015383 biolink:NamedThing cervicofacial fibrochondroma tmpte7i6ely_mondo_relaxed.owl cervicofacial enchondroma Orphanet:141067 owl:Class MONDO:0001049 biolink:NamedThing Dressler syndrome A pericarditis characterized by inflammation, occurring after injury, located in pericardium. tmpte7i6ely_mondo_relaxed.owl Dressler syndrome|Dressler's syndrome|postmyocardial infarction syndrome ICD10:I24.1|UMLS:C0152107|SCTID:66189004|ICD9:411.0|DOID:10507 Editor note: TODO owl:Class MONDO:0500018 biolink:NamedThing acute fibrinous and organizing pneumonia A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra. tmpte7i6ely_mondo_relaxed.owl AFOP http://orcid.org/0000-0001-5839-2535 owl:Class MONDO:0003144 biolink:NamedThing medulloepithelioma A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. tmpte7i6ely_mondo_relaxed.owl MDEP|medulloepithelioma, central nervous system|central nervous system medulloepithelioma|medulloepithelioma NOS (morphologic abnormality)|medulloepithelioma of the central nervous system|Diktyoma, malignant UMLS:C0334596|NCIT:C4327|DOID:4790|ONCOTREE:MDEP|SCTID:715903004|Orphanet:251883 owl:Class MONDO:0017193 biolink:NamedThing symptomatic form of Coffin-Lowry syndrome in female carriers tmpte7i6ely_mondo_relaxed.owl ICD10:Q87.0|UMLS:CN202633|Orphanet:276630 owl:Class MONDO:0019802 biolink:NamedThing secondary short bowel syndrome Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. tmpte7i6ely_mondo_relaxed.owl UMLS:CN206757|Orphanet:95427|ICD10:K91.2 owl:Class MONDO:0054731 biolink:NamedThing spermatogenic failure 27 tmpte7i6ely_mondo_relaxed.owl spermatogenic failure 27|SPGF27 OMIM:617965 owl:Class MONDO:0010412 biolink:NamedThing X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. tmpte7i6ely_mondo_relaxed.owl craniofacioskeletal syndrome ICD10:Q87.8|Orphanet:163979|OMIM:300712|UMLS:C2678036|MESH:C567471 owl:Class MONDO:0017505 biolink:NamedThing apodia, bilateral tmpte7i6ely_mondo_relaxed.owl congenital absence of foot, bilateral Orphanet:295107|ICD10:Q72.3 owl:Class MONDO:0054593 biolink:NamedThing microcephaly 18, primary, autosomal dominant tmpte7i6ely_mondo_relaxed.owl microcephaly 18, primary, autosomal dominant|MCPH18|primary autosomal dominant microcephaly 18 UMLS:C4479608|DOID:0070295|OMIM:617520 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0018611 biolink:NamedThing early-onset lamellar cataract tmpte7i6ely_mondo_relaxed.owl Orphanet:441452|OMIM:613763|UMLS:CN237647 owl:Class MONDO:0007826 biolink:NamedThing incisors, shovel-shaped tmpte7i6ely_mondo_relaxed.owl Sinodonty|incisors, shovel-shaped OMIM:147400 owl:Class MONDO:0019742 biolink:NamedThing late-onset nephronophthisis tmpte7i6ely_mondo_relaxed.owl ICD10:Q61.5|Orphanet:93589 owl:Class MONDO:0032703 biolink:NamedThing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis tmpte7i6ely_mondo_relaxed.owl SSASKS|SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM:618363 owl:Class MONDO:0002950 biolink:NamedThing skin clear cell basal cell carcinoma A morphologic variant of basal cell carcinoma characterized by the presence of clear cells. tmpte7i6ely_mondo_relaxed.owl skin clear cell basal cell carcinoma|clear cell basal cell carcinoma UMLS:C1516599|DOID:4293|NCIT:C27536 owl:Class HGNC:3402 biolink:NamedThing EPHX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010003 biolink:NamedThing Rowley-Rosenberg syndrome tmpte7i6ely_mondo_relaxed.owl Growth retardation, pulmonary hypertension, and amino aciduria|Growth retardation, pulmonary hypertension, and aminoaciduria|Rowley-Rosenberg syndrome MESH:C535874|SCTID:53783003|OMIM:268500|UMLS:C0268426|GARD:0008556 https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome owl:Class MONDO:0015644 biolink:NamedThing audiogenic seizures Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). tmpte7i6ely_mondo_relaxed.owl UMLS:C0751791|ICD10:G40.8|Orphanet:166415|SCTID:765216006 owl:Class MONDO:0032687 biolink:NamedThing intellectual developmental disorder with abnormal behavior, microcephaly, and short stature tmpte7i6ely_mondo_relaxed.owl IDDABS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM:618342 owl:Class MONDO:0012739 biolink:NamedThing microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. tmpte7i6ely_mondo_relaxed.owl microtia with nasolacrimal duct imperforation and eye coloboma|microtia eye coloboma and imperforation of the nasolacrimal duct|Balikova-Vermeesch syndrome ICD10:Q15.8|Orphanet:139450|OMIM:611863|UMLS:C2678482|MESH:C567512|GARD:0010300 owl:Class MONDO:0010618 biolink:NamedThing familial isolated hypoparathyroidism due to agenesis of parathyroid gland Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). tmpte7i6ely_mondo_relaxed.owl X-linked hypoparathyroidism|parathyroid glands, agenesis of|hypoparathyroidism, X-linked|HYPX OMIM:146200|MESH:C563238|ICD10:E20.8|OMIM:307700|NCIT:C131079|Orphanet:2238|UMLS:CN201292|Orphanet:2239 owl:Class ECTO:7000070 biolink:NamedThing exposure to snow A exposure event involving the interaction of an exposure receptor to snow. tmpte7i6ely_mondo_relaxed.owl snow exposure owl:Class HP:0002035 biolink:NamedThing Rectal prolapse Protrusion of the rectal mucous membrane through the anus. tmpte7i6ely_mondo_relaxed.owl Rectal prolapsed|Rectum protrudes through anus UMLS:C0034888|MEDDRA:10038077|MSH:D012005|SNOMEDCT_US:57773001 human_phenotype owl:Class MONDO:0100417 biolink:NamedThing acute myeloid leukemia, WT1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.) tmpte7i6ely_mondo_relaxed.owl AML, WAGR Gene Mutation|AML, Wilms Tumor 1 Gene Mutation|AML, GUD Gene Mutation|AML, WIT-2 Gene Mutation|AML, WT33 Gene Mutation|AML, WT1 mutation|AML, WT1 gene mutation NCIT:C146726 owl:Class MONDO:0012491 biolink:NamedThing macroglobulinemia, Waldenstrom, 2 tmpte7i6ely_mondo_relaxed.owl macroglobulinemia, WALDENSTROM, susceptibility to, 2|WM2 OMIM:610430|Orphanet:33226 owl:Class HGNC:3143 biolink:NamedThing EBVS1 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0035461 biolink:NamedThing vitamin transmembrane transport The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpte7i6ely_mondo_relaxed.owl vitamin membrane transport owl:Class HGNC:7477 biolink:NamedThing MT-TC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019970 biolink:NamedThing Sinding-Larsen-Johansson disease Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella. tmpte7i6ely_mondo_relaxed.owl aseptic necrosis of patella|Osteochondrosis of patella ICD10:M92.4|UMLS:CN206897|MedDRA:10063585|Orphanet:97337 owl:Class MONDO:0016429 biolink:NamedThing Marburg acute multiple sclerosis Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. tmpte7i6ely_mondo_relaxed.owl acute multiple sclerosis, Marburg type|acute multiple sclerosis, Marburg variant SCTID:766246000|Orphanet:228157 owl:Class MONDO:0004762 biolink:NamedThing Taylor syndrome tmpte7i6ely_mondo_relaxed.owl Taylor's syndrome|congestion-fibrosis syndrome|pelvic congestion syndrome SCTID:39402007|UMLS:C0152078|ICD9:625.5|DOID:9346 owl:Class HGNC:18368 biolink:NamedThing PADI4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018070 biolink:NamedThing familial multiple fibrofolliculoma Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. tmpte7i6ely_mondo_relaxed.owl multiple fibrofolliculoma familial SCTID:723361006|GARD:0003831|UMLS:C4509837|UMLS:CN204388|Orphanet:338 https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial owl:Class MONDO:0100248 biolink:NamedThing rapidly progressive primary central nervous system vasculitis A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions. tmpte7i6ely_mondo_relaxed.owl rapidly progressive PCNSV owl:Class MONDO:0012351 biolink:NamedThing zygodactyly type 1 tmpte7i6ely_mondo_relaxed.owl syndactyly type 1a|zygodactyly type 1|SD1a|Zygodactyly, Weidenreich type|ZYGODACTYLY 1|syndactyly type 1, Weidenreich type|SD1, Weidenreich type|Zd1 UMLS:C1853294|Orphanet:295187|ICD10:Q70.3|MESH:C565223|Orphanet:93402|OMIM:609815 owl:Class HGNC:3057 biolink:NamedThing DTNA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008499 biolink:NamedThing short stature-wormian bones-dextrocardia syndrome Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia. tmpte7i6ely_mondo_relaxed.owl Stratton-Parker syndrome|STRATTON-PARKER syndrome|short stature wormian bones dextrocardia|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly|Stratton Parker syndrome MESH:C566105|OMIM:185120|ICD10:Q87.1|Orphanet:2863|GARD:0004856|SCTID:763631006|UMLS:C1861448 owl:Class MONDO:0012844 biolink:NamedThing primary ciliary dyskinesia 8 A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25. tmpte7i6ely_mondo_relaxed.owl ciliary dyskinesia, primary, 8|primary ciliary dyskinesia type 8|CILD8|primary ciliary dyskinesia 8 with or without situs inversus|ciliary dyskinesia, primary, 8, with or without situs inversus ICD10:Q34.8|OMIM:612274|DOID:0110616|UMLS:C2677085|Orphanet:244|MESH:C567373 owl:Class MONDO:0700119 biolink:NamedThing distal chromosome 18q deletion syndrome Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. tmpte7i6ely_mondo_relaxed.owl distal 18q deletion|distal 18q deletion syndrome|distal 18q- GARD:0010865 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0022611 biolink:NamedThing Brunoni syndrome tmpte7i6ely_mondo_relaxed.owl mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia|mesomelia, radial hypoplasia bifid thumb unusual facies MESH:C537408|UMLS:C2931486 owl:Class MONDO:0008884 biolink:NamedThing oculoosteocutaneous syndrome A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM|anodontia-hypotrichosis syndrome|oculoosteocutaneous syndrome|brachymetapody anodontia hypotrichosis albinoidism SCTID:722061006|ICD10:Q87.5|GARD:0000992|MESH:C565893|OMIM:211370|UMLS:C1859385|Orphanet:2713 https://github.com/monarch-initiative/mondo/issues/3687|https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism owl:Class MONDO:0008453 biolink:NamedThing adult-onset proximal spinal muscular atrophy, autosomal dominant tmpte7i6ely_mondo_relaxed.owl autosomal dominant adult-onset proximal SMA|spinal muscular atrophy, late-onset, FINKEL type|Finkel disease|Finkel late-adult type Sma|autosomal dominant adult-onset proximal spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal dominant|autosomal dominant late-onset spinal muscular atrophy, Finkel type|SMAFK UMLS:CN200940|OMIM:182980|ICD10:G12.1|DOID:0111194|Orphanet:209335 owl:Class MONDO:0009051 biolink:NamedThing cutaneous photosensitivity-lethal colitis syndrome Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. tmpte7i6ely_mondo_relaxed.owl early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal OMIM:219095|UMLS:C1857449|ICD10:L57.8|GARD:0001633|MESH:C536224|Orphanet:2881 owl:Class MONDO:0002606 biolink:NamedThing epithelioid type angiomyolipoma An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia. tmpte7i6ely_mondo_relaxed.owl NCIT:C38151|DOID:3318|UMLS:C1333426 owl:Class MONDO:0015061 biolink:NamedThing neurogenic thoracic outlet syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. tmpte7i6ely_mondo_relaxed.owl neurogenic TOS|neurogenic costoclavicular syndrome|NTOS|neurogenic thoracic outlet compression syndrome|neurogenic cervical rib syndrome Orphanet:100073|UMLS:C0751549|ICD10:G54.0|SCTID:2040007 owl:Class MONDO:0017894 biolink:NamedThing acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). tmpte7i6ely_mondo_relaxed.owl acute myeloid Leukemia with mutated CEBPA|AML with CEBPA somatic mutations|acute myeloid Leukemia with non-germline mutated CEBPA|non-familial acute myeloid leukemia with mutated CEBPA|AML with mutated CEBPA OMIM:601626|SCTID:764855007|UMLS:C2826178|ICD10:C92.0|NCIT:C82433|Orphanet:319480 owl:Class MONDO:0030931 biolink:NamedThing proteasome-associated autoinflammatory syndrome 4 tmpte7i6ely_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 4|PRAAS4 OMIM:619183 owl:Class HGNC:2671 biolink:NamedThing DAO tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004407 biolink:NamedThing stroma-dominant and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. tmpte7i6ely_mondo_relaxed.owl composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor NCIT:C42060|DOID:7949|UMLS:C1516761 owl:Class MONDO:0007722 biolink:NamedThing heterochromia iridis tmpte7i6ely_mondo_relaxed.owl heterochromia iridis (disease)|heterochromia iridis heterochromia iridis (disease) HP:0001100|MESH:C538115|OMIM:142500 owl:Class MONDO:0005610 biolink:NamedThing Kashin-Beck disease Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. tmpte7i6ely_mondo_relaxed.owl ICD9:716.00|MESH:D057767|SCTID:270505009|ICD9:716.08|UMLS:C2745963|ICD9:716.06|EFO:0006511 owl:Class MONDO:0030920 biolink:NamedThing intellectual disability, autosomal dominant 54 tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 54|autosomal dominant intellectual disability 54|mental retardation, autosomal dominant 54|intellectual disability, autosomal dominant 54|MRD54 Orphanet:178469|OMIM:617799|DOID:0080230|EFO:0009164 owl:Class MONDO:0015401 biolink:NamedThing maxillary arteriovenous malformation Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic. tmpte7i6ely_mondo_relaxed.owl arteriovenous malformation of maxilla SCTID:703335004|Orphanet:141171|ICD10:Q27.3 owl:Class MONDO:0023671 biolink:NamedThing oculopharyngodistal myopathy 3 tmpte7i6ely_mondo_relaxed.owl OPDM3 OMIM:619473 owl:Class MONDO:0100403 biolink:NamedThing acute myeloid leukemia, loss of chromosome 17p Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).) tmpte7i6ely_mondo_relaxed.owl AML, del(17p)|AML, loss of chromosome 17p NCIT:C36499 owl:Class NCBITaxon:436492 biolink:NamedThing Coelurosauria tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008430 biolink:NamedThing skeletal dysplasia with delayed epiphyseal and carpal bone ossification tmpte7i6ely_mondo_relaxed.owl skeletal dysplasia with delayed epiphyseal and carpal bone ossification OMIM:182255|UMLS:C1866939|MESH:C566687 owl:Class UBERON:0009035 biolink:NamedThing renal straight tubule tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008493 biolink:NamedThing overhydrated hereditary stomatocytosis Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl stomatocytosis 1|OHST|overhydrated hereditary stomatocytosis|Potassium-sodium disorder of erythrocyte|stomatocytosis I|Potassium sodium disorder of erythrocyte|OHS|OVERHYDRATED hereditary stomatocytosis DOID:0111562|GARD:0004183|UMLS:C1861455|OMIM:185000|ICD10:D58.8|Orphanet:3203|MESH:C566111|SCTID:722125003 owl:Class MONDO:0021575 biolink:NamedThing oocyte maturation defect 4 tmpte7i6ely_mondo_relaxed.owl OOMD4|oocyte maturation defect 4 UMLS:CN562785|OMIM:617743 owl:Class UBERON:2001544 biolink:NamedThing sublingual cartilage tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006375 biolink:NamedThing placental hemangioma A hemangioma arising from the fetal blood vessels in the placental villi. tmpte7i6ely_mondo_relaxed.owl hemangioma of the placenta|chorioangioma|placental angioma|placenta hemangioma|Chorangioma|hemangioma of placenta|placental hemangioma|Chorangioma placentae|angioma of placenta|angioma of the placenta|Chorangioma of the placenta SCTID:237268002|MESH:D006391|EFO:1000480|NCIT:C4868|UMLS:C0677608|DOID:277|ICD9:219.8 owl:Class MONDO:0017816 biolink:NamedThing primary systemic amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. tmpte7i6ely_mondo_relaxed.owl systemic amyloidosis|systemic Immunoglobulin Light chain amyloidosis|systemic AL amyloidosis OMIM:254500|ICD10:E85.2|SCTID:89449005|Orphanet:314701|ICD10:E85.1|ICD10:E85.0|UMLS:C0268380|NCIT:C8299|ICD10:E85.3|UMLS:C0281479 owl:Class MONDO:0010705 biolink:NamedThing ouabain resistance tmpte7i6ely_mondo_relaxed.owl ouabain resistance|OUBR 2022-04-01 OMIM:311350 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0011130 biolink:NamedThing sebaceous gland hyperplasia, familial presenile tmpte7i6ely_mondo_relaxed.owl sebaceous gland hyperplasia, familial presenile GARD:0010031|OMIM:601700|MESH:C537530|UMLS:C1866428 https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile owl:Class HGNC:11185 biolink:NamedThing SORL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010185 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblD A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. tmpte7i6ely_mondo_relaxed.owl homocystinuria, cblD type, variant 1|cblD defect|methylmalonic aciduria and homocystinuria, cblD type|Mehtylmalonic acidemia with homocystinuria cbI d|cblD methylmalonic acidemia and homocystinuria|methylmalonic acidemia with homocystinuria, type cblD|methylmalonic aciduria, cblD type, variant 2, included|cobalamin D deficiency|m0e.321 cobalamin locus d variant|methylmalonic acidemia and homocystinuria, cblD type|methylmalonic acidemia with homocystinuria type cblD|cblD - cobalamin locus d|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|MAHCD|methylmalonic aciduria with homocystinuria, type cblD|methylmalonic aciduria, Cblh type|homocystinuria, cblD type, variant 1, included|cobalamin D defect|methylmalonic acidemia, Cblh type, formerly|methylmalonic aciduria, Cblh type, formerly|methylmalonic aciduria and homocystinuria type cblD|methylmalonic acidemia, Cblh type|methylmalonic aciduria, cblD type, variant 2|cobalamin d disease SCTID:31220004|MESH:C564743|Orphanet:28|OMIM:277410|UMLS:CN205879|GARD:0003582|Orphanet:308380|DOID:0050716|Orphanet:308442|Orphanet:622|Orphanet:26|Orphanet:79283|ICD10:E72.1 owl:Class HGNC:5467 biolink:NamedThing IGF2R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009095 biolink:NamedThing dermatoosteolysis, Kirghizian type Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl Dermatoosteolysis Kirghizian type|Kirghizian Dermatoosteolysis|dermatoosteolysis, Kirghizian type|autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia Orphanet:1657|MESH:C535373|OMIM:221810|UMLS:C1857301|GARD:0001814|SCTID:721090002 https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type owl:Class MONDO:0001337 biolink:NamedThing inflamed seborrheic keratosis tmpte7i6ely_mondo_relaxed.owl UMLS:C0376117|SCTID:442348004|ICD9:702.11|ICD10:L82.0|DOID:11685 owl:Class MONDO:0008203 biolink:NamedThing Passovoy factor defect tmpte7i6ely_mondo_relaxed.owl Passovoy factor defect UMLS:C3149707|OMIM:168830 owl:Class ENVO:01000034 biolink:NamedThing oceanic sea surface microlayer biome The oceanic sea surface microlayer (SML) biome comprises the top 1000 micrometers of the marine surface waters occurring offshore, away from a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. tmpte7i6ely_mondo_relaxed.owl owl:Class ENVO:01000033 biolink:NamedThing oceanic pelagic zone biome The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033657 biolink:NamedThing leukodystrophy, hypomyelinating, 20 tmpte7i6ely_mondo_relaxed.owl HLD20 OMIM:619071 owl:Class MONDO:0012768 biolink:NamedThing prostate cancer, hereditary, 11 tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, 11|HPC11 UMLS:C2677773|OMIM:611955|MESH:C567449 owl:Class MONDO:0044715 biolink:NamedThing metopic ridging-ptosis-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:502430 owl:Class HGNC:2206 biolink:NamedThing COL4A4 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:6158 biolink:NamedThing ITGB4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0012707 biolink:NamedThing familial febrile seizures 9 tmpte7i6ely_mondo_relaxed.owl febrile seizures, familial, 9|FEB9|febrile convulsions, familial, 9 UMLS:C1968846|DOID:0111303|OMIM:611634|MESH:C566901 owl:Class MONDO:0011235 biolink:NamedThing pelvic dysplasia-arthrogryposis of lower limbs syndrome tmpte7i6ely_mondo_relaxed.owl pelvic hypoplasia with arthrogryposis of lower limbs|pelvic hypoplasia with LOWER-limb arthrogryposis|pelvic dysplasia arthrogryposis of lower limbs|Ray-Peterson-Scott syndrome|pelvic hypoplasia with lower limb arthrogryposis Orphanet:2840|UMLS:C1865294|GARD:0004269|OMIM:602484 owl:Class MONDO:0042717 biolink:NamedThing Saul-Wilkes-Stevenson syndrome tmpte7i6ely_mondo_relaxed.owl Saul Wilkes Stevenson syndrome MESH:C536617|UMLS:C2931266|GARD:0000161 owl:Class MONDO:0006996 biolink:NamedThing thyroid crisis Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. tmpte7i6ely_mondo_relaxed.owl thyroid crisis|thyrotoxic crisis|thyroid storm|thyroid crisis (disease) thyroid crisis (disease) HP:0011782|NCIT:C112836|SCTID:29028009|ICD9:242.91|UMLS:C0040127|ICD10:E05.5|EFO:1001212|DOID:12837|MedDRA:10043705|MESH:D013958|ICD9:242.81 owl:Class MONDO:0000966 biolink:NamedThing pleomorphic lipoma A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. tmpte7i6ely_mondo_relaxed.owl pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality) ICDO:8854/0|NCIT:C3703|UMLS:C0205823|DOID:10192|MESH:D008067|SCTID:404059000 owl:Class MONDO:0007493 biolink:NamedThing torsion dystonia 4 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). tmpte7i6ely_mondo_relaxed.owl autosomal dominant torsion dystonia-4|dystonia musculorum deformans 4|whispering dysphonia|whispering dysphonia, hereditary|primary dystonia, DYT4 type|DYT4|torsion dystonia type 4|dystonia 4, torsion, autosomal dominant|hereditary whispering dysphonia SCTID:719276005|OMIM:128101|UMLS:C1851943|Orphanet:98805|UMLS:C1860315|GARD:0010138|DOID:0090041|ICD10:G24.1 owl:Class MONDO:0017179 biolink:NamedThing limbic encephalitis with caspr2 antibodies Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. tmpte7i6ely_mondo_relaxed.owl ICD10:G13.1|Orphanet:276402|SCTID:763793004 owl:Class MONDO:0006774 biolink:NamedThing habitual spontaneous abortion Three or more consecutive spontaneous abortions. tmpte7i6ely_mondo_relaxed.owl MedDRA:10062935|ICD10:N96|SCTID:102878001|MESH:D000026|EFO:1000954 owl:Class MONDO:0004112 biolink:NamedThing radiation cystitis Inflammation of the bladder due to irradiation. tmpte7i6ely_mondo_relaxed.owl irradiation cystitis SCTID:11251000|UMLS:C0156270|ICD9:595.82|NCIT:C123174|DOID:7127|ICD10:N30.4 owl:Class MONDO:0009583 biolink:NamedThing blepharophimosis - intellectual disability syndrome, Ohdo type Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. tmpte7i6ely_mondo_relaxed.owl Ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo syndrome|blepharophimosis syndrome, Ohdo type|Ohdo-Madokoro-Sonoda syndrome|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|BMRS, Ohdo type ICD9:525.8|UMLS:C0796094|OMIM:249620|SCTID:412787009|Orphanet:2728|ICD9:374.89 owl:Class MONDO:0014036 biolink:NamedThing Alzheimer disease 17 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. tmpte7i6ely_mondo_relaxed.owl Alzheimer's disease 17|Alzheimer disease 17|Alzheimer's disease type 17|AD17|Alzheimer disease 17, late onset|Alzheimer disease 17, late-onset OMIM:615080|DOID:0110049|UMLS:C3554452 owl:Class CL:1000271 biolink:NamedThing lung ciliated cell tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0060712 biolink:NamedThing developmental delay, intellectual disability, obesity, and dysmorphic features tmpte7i6ely_mondo_relaxed.owl DIDOD|developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features UMLS:CN248510|OMIM:617991 owl:Class MONDO:0001021 biolink:NamedThing ametropic amblyopia tmpte7i6ely_mondo_relaxed.owl refractive amblyopia DOID:10377|ICD9:368.03|SCTID:90927000|UMLS:C0152190|ICD10:H53.02 owl:Class MONDO:0001271 biolink:NamedThing lens subluxation A partial dislocation of the lens of the eye. tmpte7i6ely_mondo_relaxed.owl lens subluxation|lens subluxation (disease)|subluxation of lens lens subluxation (disease) NCIT:C34772|UMLS:C0023316|ICD10:H27.11|MESH:D007906|ICD9:379.32|SCTID:65814009|DOID:11364|HP:0001132 owl:Class MONDO:0003888 biolink:NamedThing childhood testicular mixed embryonal carcinoma and teratoma A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. tmpte7i6ely_mondo_relaxed.owl childhood testicular mixed embryonal carcinoma and teratoma|pediatric testicular teratocarcinoma|childhood teratocarcinoma of testis|childhood testicular teratocarcinoma|childhood teratocarcinoma of the testis UMLS:C1333008|DOID:6474|NCIT:C6539 owl:Class MONDO:0010606 biolink:NamedThing hernia, anterior diaphragmatic tmpte7i6ely_mondo_relaxed.owl hernia, anterior diaphragmatic OMIM:306950|Orphanet:2140|MESH:C564413 owl:Class MONDO:0007941 biolink:NamedThing malocclusion due to protuberant upper front teeth tmpte7i6ely_mondo_relaxed.owl malocclusion due to protuberant upper front teeth OMIM:154300 owl:Class HP:0006483 biolink:NamedThing Abnormal number of teeth The presence of an altered number of of teeth. tmpte7i6ely_mondo_relaxed.owl Abnormal complement of teeth|Abnormal number of teeth|Abnormal tooth count SNOMEDCT_US:335443002|UMLS:C1290508 Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. peter 2008-03-28T05:44:00Z human_phenotype owl:Class NCIT:C12919 biolink:NamedThing Organ System tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022645 biolink:NamedThing cardioencephalomyopathy tmpte7i6ely_mondo_relaxed.owl GARD:0010673 https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy owl:Class MONDO:0003652 biolink:NamedThing acute urate nephropathy Urolithiasis in which the composition of the stones is predominantly urate. tmpte7i6ely_mondo_relaxed.owl uric acid urolithiasis|uric acid nephrolithiasis SCTID:236496000|ICD9:583.9|ICD9:274.11|DOID:580|UMLS:C0341712|NCIT:C123037|UMLS:C0403719 owl:Class MONDO:0007654 biolink:NamedThing genu valgum, st. Helena familial tmpte7i6ely_mondo_relaxed.owl severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|hereditary pubertal genu valgum|genu valgum, hereditary pubertal|genu valgum, st. Helena familial|genu valgum, st Helena familial|St. Helena familial genu valgum MESH:C537685|UMLS:C1842052|GARD:0008429|OMIM:137370 https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial owl:Class MONDO:0007907 biolink:NamedThing lipoma of the conjunctiva tmpte7i6ely_mondo_relaxed.owl lipoma of the conjunctiva MESH:C563620|UMLS:C1835373|OMIM:151700 owl:Class MONDO:0019849 biolink:NamedThing isolated micropenis tmpte7i6ely_mondo_relaxed.owl ICD10:Q55.6|Orphanet:95707 owl:Class MONDO:0008169 biolink:NamedThing osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension tmpte7i6ely_mondo_relaxed.owl osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension GARD:0002277|UMLS:C1833688|OMIM:166990|MESH:C563478 owl:Class HGNC:3721 biolink:NamedThing FKBP5 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017060 biolink:NamedThing open iniencephaly tmpte7i6ely_mondo_relaxed.owl Orphanet:268363|SCTID:203928008|ICD10:Q00.2 owl:Class MONDO:0006115 biolink:NamedThing blast phase chronic myelogenous leukemia, BCR-ABL1 positive An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). tmpte7i6ely_mondo_relaxed.owl blastic phase chronic myelogenous leukemia|blast phase chronic myelocytic leukemia|crisis, blast|blast crisis|crises, blast|blast phases|blast phase chronic myelogenous leukemia|phases, blast|blastic phase chronic myeloid leukemia|blast phase chronic granulocytic leukemia|blastic phase CML|blast phase CML|blast phase|blastic phase chronic granulocytic leukemia|blast crises|blastic phase chronic myelocytic leukemia|blast phase chronic myeloid leukemia|phase, blast MESH:D001752|NCIT:C9110|UMLS:C0005699|SCTID:413656006|EFO:1000131 owl:Class HGNC:7500 biolink:NamedThing MT-TV tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004200 biolink:NamedThing superficial urinary bladder carcinoma A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade. tmpte7i6ely_mondo_relaxed.owl superficial bladder cancer|superficial urinary bladder cancer|superficial urinary bladder carcinoma|superficial bladder carcinoma NCIT:C27474|SCTID:425231005|UMLS:C1336527|DOID:7371 owl:Class HGNC:3401 biolink:NamedThing EPHX1 tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0002345 biolink:NamedThing Action tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. tmpte7i6ely_mondo_relaxed.owl Ataxic tremor MSH:D014202|UMLS:C0234376|SNOMEDCT_US:30721006|UMLS:C4020853 Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors human_phenotype owl:Class IAO:8000003 biolink:NamedThing main release ontology module An ontology module that is intended to be the primary release product and the one consumed by the majority of tools. tmpte7i6ely_mondo_relaxed.owl TODO: Add logical axioms that state that a main release ontology module is derived from (directly or indirectly) an editors module main release ontology module owl:Class MONDO:0005572 biolink:NamedThing polycythemia due to hypoxia Polycythemia resulting from hypoxia. tmpte7i6ely_mondo_relaxed.owl DOID:2835|NCIT:C27312|EFO:0005805|UMLS:C0856818 owl:Class MONDO:0009763 biolink:NamedThing obesity-hypoventilation syndrome Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. tmpte7i6ely_mondo_relaxed.owl Pickwickian syndrome|obesity-hypoventilation syndrome MESH:D010845|ICD9:786.09|UMLS:C0031880|SCTID:190966007|OMIM:257500 owl:Class MONDO:0012601 biolink:NamedThing autism, susceptibility to, 10 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 10|AUTS10 OMIM:611016 owl:Class MONDO:0013343 biolink:NamedThing C1Q deficiency C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor. tmpte7i6ely_mondo_relaxed.owl C1q deficiency|C1QD|C1Q deficiency GARD:0012958|Orphanet:169147|OMIM:613652|NCIT:C119990|UMLS:C3150902 https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency owl:Class MONDO:0003141 biolink:NamedThing cerebellopontine angle embryonal tumor A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain. tmpte7i6ely_mondo_relaxed.owl primitive neuroectodermal neoplasm of cerebellar Pontine angle|primitive neuroectodermal tumor of cerebellopontine angle|primitive neuroectodermal neoplasm of the cerebellopontine angle|cerebellopontine angle PNET|primitive neuroectodermal neoplasm of C-P angle|primitive neuroectodermal tumor of the cerebellopontine angle|primitive neuroectodermal tumor of the cerebellar Pontine angle|cerebellar Pontine angle primitive neuroectodermal tumor|cerebellar Pontine angle PNET|cerebellar Pontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of the C-P angle|C-P angle primitive neuroectodermal tumor|C-P angle primitive neuroectodermal neoplasm|cerebellopontine angle primitive neuroectodermal neoplasm|cerebellopontine angle primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of cerebellopontine angle|primitive neuroectodermal neoplasm of the C-P angle|primitive neuroectodermal tumor of C-P angle|cerebellopontine angle primitive neuroectodermal|primitive neuroectodermal tumor of cerebellar Pontine angle|C-P angle PNET|primitive neuroectodermal neoplasm of the cerebellar Pontine angle UMLS:C1332904|NCIT:C5436|DOID:4787 owl:Class MONDO:0009260 biolink:NamedThing GM1 gangliosidosis type 1 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. tmpte7i6ely_mondo_relaxed.owl gangliosidosis, generalized GM1, type I, with Cardiac involvement|Glb1 deficiency|Beta galactosidase deficiency type 1|Norman-Landing disease|GM1-gangliosidosis, type I, with Cardiac involvement|GM1-gangliosidosis, type I|gangliosidosis generalized GM1 type 1|infantile GM1 gangliosidosis|GM1-gangliosidosis, type 1|GLB deficiency type 1|gangliosidosis, generalized GM1, infantile form|Beta-galactosidase-1 deficiency|gangliosidosis, generalized GM1, type 1|gangliosidosis generalized GM1 infantile form SCTID:238026007|ICD10:E75.1|Orphanet:354|Orphanet:79255|DOID:0080502|UMLS:C0085131|OMIM:230500|GARD:0006479 MONDO:0023211 https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1 owl:Class MONDO:0018005 biolink:NamedThing spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. tmpte7i6ely_mondo_relaxed.owl UMLS:CN204217|Orphanet:329475|ICD10:G11.4 owl:Class MONDO:0009896 biolink:NamedThing polymyoclonus, infantile tmpte7i6ely_mondo_relaxed.owl polymyoclonus, infantile MESH:C535524|OMIM:263550|UMLS:C1849731 owl:Class NCBITaxon:11653 biolink:NamedThing Ovine/caprine lentivirus group tmpte7i6ely_mondo_relaxed.owl Ovine/caprine lentivirus|Ovine/caprine lentiviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010553 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined tmpte7i6ely_mondo_relaxed.owl Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined OMIM:302900|MESH:C564446|UMLS:C1844863 owl:Class HP:0011927 biolink:NamedThing Short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. tmpte7i6ely_mondo_relaxed.owl Very short digits|Short digit UMLS:C4023124|UMLS:C1860176 Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. peter 2012-06-10T09:18:42Z human_phenotype owl:Class MONDO:0013709 biolink:NamedThing intellectual disability, autosomal recessive 28 tmpte7i6ely_mondo_relaxed.owl MRT28|intellectual disability, autosomal recessive 28|mental retardation, autosomal recessive 28 OMIM:614347|UMLS:C3280545 owl:Class MONDO:0016506 biolink:NamedThing ectopic aldosterone-producing tumor Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. tmpte7i6ely_mondo_relaxed.owl Extra-adrenal aldosterone-producing tumor Orphanet:231632|UMLS:CN201515|ICD10:E26.8 owl:Class HGNC:4456 biolink:NamedThing GPD2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008902 biolink:NamedThing camptodactyly-ichthyosis syndrome tmpte7i6ely_mondo_relaxed.owl camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome MESH:C537976|GARD:0010134|UMLS:C1859355|OMIM:211965 https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome owl:Class MONDO:0009804 biolink:NamedThing osteogenesis imperfecta type 3 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). tmpte7i6ely_mondo_relaxed.owl progressive deforming osteogenesis imperfecta|OI3|osteogenesis imperfecta, type 3|severe osteogenesis imperfecta|progressively deforming osteogenesis imperfecta with normal sclera|OI type 3|Oi3|OI, type 3|osteogenesis imperfecta, progressively deforming with normal sclerae|osteogenesis imperfecta, type III|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressively deforming OI|osteogenesis imperfecta type 3|OI type III|osteogenesis imperfecta type III ICD10:Q78.0|OMIM:614856|OMIM:610968|OMIM:259420|OMIM:610915|OMIM:610682|OMIM:613848|UMLS:C0268362|GARD:0008695|OMIM:613982|NCIT:C99002|OMIM:615220|DOID:0110339|MESH:C536044|OMIM:616229|SCTID:385483009|OMIM:259440|Orphanet:216812 owl:Class HP:0004338 biolink:NamedThing Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. tmpte7i6ely_mondo_relaxed.owl Abnormality of aromatic amino acid family metabolism UMLS:C4025352 peter 2008-03-08T07:55:00Z human_phenotype owl:Class MONDO:0009200 biolink:NamedThing eyebrow duplication-syndactyly syndrome Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. tmpte7i6ely_mondo_relaxed.owl eyebrows duplication of, with stretchable skin and syndactyly|eyebrows, DUPLICATION of, with stretchable skin and syndactyly OMIM:227210|Orphanet:3172|UMLS:C1856896|MESH:C536383|GARD:0002216 owl:Class MONDO:0017844 biolink:NamedThing Sezary syndrome Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells). tmpte7i6ely_mondo_relaxed.owl SS|CTCL / Sezary syndrome|SC)zary syndrome|cutaneous T-cell lymphoma/Sezary syndrome|Sézary syndrome|Sezary's disease|Sezary lymphoma|Sezary syndrome|Sezary disease|Sézary lymphoma|Sezary's lymphoma MESH:D012751|ICDO:9701/3|ICD10:C84.10|ICD9:202.2|EFO:1000785|NCIT:C3366|MedDRA:10040493|ICD10:C84.1|MedDRA:10040500|UMLS:C0036920|ONCOTREE:SS|GARD:0007629|SCTID:118611004|Orphanet:3162|DOID:8541 owl:Class HGNC:21191 biolink:NamedThing DAOA tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015296 biolink:NamedThing cardiac anomalies-heterotaxy syndrome Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. tmpte7i6ely_mondo_relaxed.owl Orphanet:137628|ICD10:Q28.8|UMLS:CN199246 owl:Class HP:0004921 biolink:NamedThing Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. tmpte7i6ely_mondo_relaxed.owl Abnormal magnesium metabolism|Abnormal Mg concentration|Abnormality of magnesium homeostasis UMLS:C4020826|UMLS:C4025274 HP:0008274 human_phenotype owl:Class MONDO:0004846 biolink:NamedThing placental abruption Vaginal bleeding preceding the 20th week of gestation. tmpte7i6ely_mondo_relaxed.owl placental abruption|abruptio placenta|Abruptio placentae, premature separation of placenta|placental abruption (disease)|premature separation of placenta|abruptio placentae placental abruption (disease) ICD9:641.20|ICD9:640.03|EFO:1001754|HP:0011419|DOID:9667|ICD9:640.0|SCTID:415105001|NCIT:C26685|MESH:D000037|ICD10:O20.0|NCIT:C112857 owl:Class MONDO:0011838 biolink:NamedThing Bothnia retinal dystrophy A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. tmpte7i6ely_mondo_relaxed.owl VC$sterbotten dystrophy|Västerbotten dystrophy|Bothnia retinal dystrophy|Vasterbotten dystrophy SCTID:715647007|ICD10:H35.5|DOID:0050683|UMLS:C1843816|OMIM:607475|Orphanet:85128|MESH:C564392 owl:Class MONDO:0004220 biolink:NamedThing endometrial endometrioid adenocarcinoma with spindled epithelial cells A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells. tmpte7i6ely_mondo_relaxed.owl sarcomatoid uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma with spindled epithelial cells UMLS:C1336913|DOID:7436|NCIT:C27850 owl:Class HGNC:8143 biolink:NamedThing OPCML tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022972 biolink:NamedThing diabetic mastopathy Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). tmpte7i6ely_mondo_relaxed.owl sclerosing lymphocytic lobulitis|diabetic fibrous breast disease|diabetic fibrous mastopathy|lymphocytic mastitis|lymphocytic mastopathy SCTID:724136006|GARD:0008322|MESH:C537524 https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy owl:Class MONDO:0009244 biolink:NamedThing Freesia Flowers, inability to smell tmpte7i6ely_mondo_relaxed.owl Freesia Flowers, inability to smell OMIM:229250 owl:Class MONDO:0022770 biolink:NamedThing circumscribed cutaneous aplasia of the vertex tmpte7i6ely_mondo_relaxed.owl GARD:0001365 https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex owl:Class MONDO:0030293 biolink:NamedThing angioedema, hereditary, 5 tmpte7i6ely_mondo_relaxed.owl HAE5|angioedema, hereditary, 5 OMIM:619361 owl:Class MONDO:0011210 biolink:NamedThing mitochondrial intermembrane space protein Tim12, yeast, homolog of tmpte7i6ely_mondo_relaxed.owl mitochondrial intermembrane space protein Tim12, yeast, homolog of OMIM:602252 owl:Class MONDO:0000663 biolink:NamedThing anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. tmpte7i6ely_mondo_relaxed.owl DOID:0060133 owl:Class MONDO:0017597 biolink:NamedThing T-cell/histiocyte rich large B cell lymphoma T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course. tmpte7i6ely_mondo_relaxed.owl T-cell/histiocyte-rich large B-cell lymphoma|THRLBCL|T-cell rich/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte rich lymphoma ICDO:9688/3|ICDO:9680/3|UMLS:C1321547|GARD:0012257|ICD10:C83.3|Orphanet:300857|NCIT:C9496|ONCOTREE:THRLBCL https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma owl:Class MONDO:0001391 biolink:NamedThing indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. tmpte7i6ely_mondo_relaxed.owl indeterminate leprosy [group I]|uncharacteristic leprosy ICD10:A30.0|ICD9:030.2|UMLS:C0021192|SCTID:14386001|DOID:11851 owl:Class MONDO:0009917 biolink:NamedThing autosomal recessive pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. tmpte7i6ely_mondo_relaxed.owl pseudohypoaldosteronism type 1 autosomal recessive|autosomal recessive pseudohypoaldosteronism type 1|PHA I, autosomal recessive|pseudohypoaldosteronism type 1, recessive|PHA1B|generalized pseudohypoaldosteronism type 1|pseudohypoaldosteronism, type I, autosomal recessive|generalized PHA1|autosomal recessive PHA 1 Orphanet:756|Orphanet:171876|DOID:0060854|UMLS:C0268436|ICD10:N25.8|GARD:0004552|MESH:D011546|OMIM:264350 https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 owl:Class MONDO:0017072 biolink:NamedThing lumbosacral spina bifida cystica tmpte7i6ely_mondo_relaxed.owl Orphanet:268758 owl:Class HGNC:29605 biolink:NamedThing SH2B3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016852 biolink:NamedThing paternal uniparental disomy of chromosome X tmpte7i6ely_mondo_relaxed.owl paternal uniparental disomy of chromosome type X|UPD(X)pat Orphanet:261524|ICD10:Q99.8 owl:Class MONDO:0018418 biolink:NamedThing autosomal recessive spastic paraplegia type 66 tmpte7i6ely_mondo_relaxed.owl SPG66 UMLS:CN226125|Orphanet:401815|ICD10:G11.4 owl:Class MONDO:0011586 biolink:NamedThing otosclerosis 2 tmpte7i6ely_mondo_relaxed.owl OTSC2|otosclerosis 2 MESH:C565302|OMIM:605727|UMLS:C1854022 owl:Class UBERON:0001082 biolink:NamedThing epicardium of ventricle tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004428 biolink:NamedThing alveoli adenoma A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative. tmpte7i6ely_mondo_relaxed.owl alveolar adenoma (morphologic abnormality)|adenoma of alveoli|adenoma, bronchioloalveolar, benign|alveolar adenoma|adenoma of the alveoli DOID:8003|ICDO:8251/0|NCIT:C4140|UMLS:C0334303 owl:Class OBO:CARO_0001000 biolink:NamedThing multi-cell-part structure tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0019310 biolink:NamedThing recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area. tmpte7i6ely_mondo_relaxed.owl inverse recessive dystrophic epidermolysis bullosa|inverse RDEB|dystrophic epidermolysis bullosa inversa|RDEB-I Orphanet:79409|OMIM:226600|UMLS:CN205951|ICD10:Q81.2 owl:Class MONDO:0009179 biolink:NamedThing recessive dystrophic epidermolysis bullosa Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. tmpte7i6ely_mondo_relaxed.owl RDEB generalisata gravis|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|severe generalized recessive dystrophic epidermolysis bullosa|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|RDEB|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|epidermolysis bullosa dystrophica, Hallopeau-Siemens type|severe generalized RDEB|dystrophic epidermolysis bullosa, autosomal recessive|recessive dystrophic epidermolysis bullosa, severe generalized|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|RDEB, severe generalized|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|RDEB, Hallopeau-Siemens type|RDEB-sev gen|epidermolysis bullosa dystrophica, autosomal recessive|epidermolysis bullosa dystrophica inversa, autosomal recessive OMIM:226600|SCTID:48528004|ICD10:Q81.2|Orphanet:79408|ICD9:757.39|Orphanet:79409|DOID:0060642|GARD:0006308 owl:Class HGNC:6524 biolink:NamedThing LCK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0024480 biolink:NamedThing dermatosis of eyelid tmpte7i6ely_mondo_relaxed.owl dermatosis of eyelid UMLS:C1274150|SCTID:402700001 owl:Class MONDO:0008744 biolink:NamedThing alar cartilages hypoplasia-coloboma-telecanthus syndrome Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. tmpte7i6ely_mondo_relaxed.owl frontonasal dysplasia with alar clefts|alar-nasal cartilages, coloboma of, with telecanthus|coloboma of alar-nasal cartilages with telecanthus MESH:C535967|ICD10:Q75.8|Orphanet:2007|UMLS:C1859964|GARD:0000588|OMIM:203000 owl:Class MONDO:0030987 biolink:NamedThing vertebral, cardiac, tracheoesophageal, renal, and limb defects tmpte7i6ely_mondo_relaxed.owl VCTERL|VCTERL syndrome OMIM:619227 owl:Class MONDO:0002788 biolink:NamedThing papillary craniopharyngioma A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl craniopharyngioma, papillary (morphologic abnormality)|papillary craniopharyngioma (morphologic abnormality)|papillary Rathke's pouch neoplasm|papillary neoplasm of Rathke's pouch|papillary Rathke pouch neoplasm|papillary Rathke's pouch tumor|craniopharyngioma, papillary|papillary tumor of Rathke's pouch MESH:D003397|ICDO:9352/1|NCIT:C4725|EFO:1000447|DOID:3847|UMLS:C0431128 owl:Class MONDO:0012352 biolink:NamedThing vasculitis, lymphocytic, cutaneous small vessel tmpte7i6ely_mondo_relaxed.owl vasculitis, lymphocytic, cutaneous small vessel OMIM:609817|MESH:C565222|UMLS:C1853293 owl:Class MONDO:0007651 biolink:NamedThing gastrocutaneous syndrome tmpte7i6ely_mondo_relaxed.owl gastrocutaneous syndrome|peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia MESH:C535651|GARD:0002438|UMLS:C1850899|OMIM:137270|Orphanet:2069 https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome owl:Class MONDO:0000895 biolink:NamedThing nonmucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. tmpte7i6ely_mondo_relaxed.owl DOID:0080186 owl:Class HGNC:12449 biolink:NamedThing TYROBP tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0031332 biolink:NamedThing Glanzmann thrombasthenia 1 A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia tmpte7i6ely_mondo_relaxed.owl platelet glycoprotein IIb-IIIa deficiency|thrombasthenia of Glanzmann and Naegeli|Diacyclothrombopathia 2B 3A|Platelet fibrinogen receptor, deficiency of|Glanzmann thrombasthenia 1|Platelet glycoprotein IIb-IIIa deficiency|deficiency of GP 2B 3A complex|BDPLT2|Thrombocytasthenia|Glanzmann thrombasthenia|thrombasthenia|GP IIb-IIIa Complex, deficiency of|deficiency of GP IIb-IIIa complex|deficiency of glycoprotein complex IIb-IIIa|Glanzmann's thrombasthenia|Glanzmann thrombasthenia type A|platelet-type bleeding disorder 2|glycoprotein Complex IIb-IIIa, deficiency of|glycoprotein IIb/IIIa defect|GT|Platelet glycoprotein 2B 3A deficiency|bleeding disorder, Platelet-type, 2|deficiency of platelet fibrinogen receptor MESH:D013915|SCTID:32942005|GARD:0002478|NCIT:C61249|Orphanet:849|DOID:2219|OMIM:273800|ICD10:D69.1 owl:Class MONDO:0008456 biolink:NamedThing spinocerebellar ataxia with rigidity and peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia with rigidity and peripheral neuropathy OMIM:183050|UMLS:C1866770|MESH:C566669 owl:Class MONDO:0007702 biolink:NamedThing heart-hand syndrome type 3 Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. tmpte7i6ely_mondo_relaxed.owl brachydactyly and intraventricular conduction defect|heart-hand syndrome, Spanish type|upper limb malformations and congenital cardiac anomalies|Cardiomelic syndrome type 3|atriodigital dysplasia type 3|heart-limb syndrome type 3 ICD10:Q87.2|GARD:0002614|Orphanet:1342|SCTID:721013001|UMLS:C1841657|OMIM:140450|MESH:C535853 owl:Class MONDO:0020406 biolink:NamedThing complete atrioventricular canal-left heart obstruction syndrome tmpte7i6ely_mondo_relaxed.owl complete atrioventricular canal type A|CAVC-left heart obstruction syndrome|CAVC type A ICD10:Q21.2|Orphanet:99066|UMLS:CN207278 owl:Class HGNC:10001 biolink:NamedThing RGS5 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9882 biolink:NamedThing RASSF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4428 biolink:NamedThing GOLGA5 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:2572558 biolink:NamedThing Ancylostomatoidea tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008532 biolink:NamedThing teeth present at birth tmpte7i6ely_mondo_relaxed.owl teeth present AT birth|Natal teeth|teeth present at birth|teeth present at birth (disease) teeth present at birth (disease) OMIM:187050|HP:0000695|SCTID:21995002 owl:Class MONDO:0005173 biolink:NamedThing actinic keratosis A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. tmpte7i6ely_mondo_relaxed.owl SK - solar keratosis|senile keratosis|Senile keratosis|solar keratosis|actinic (solar) keratosis|actinic keratosis (disease)|Senile hyperkeratosis|actinic keratosis actinic keratosis (disease) ICD9:702.0|ICD10:L57.0|HP:0025127|MESH:D055623|ICD9:702.19|DOID:8866|SCTID:398838000|EFO:0002496|UMLS:C4282032|NCIT:C3148|UMLS:C0022602 owl:Class NCBITaxon:44417 biolink:NamedThing Cyclospora tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002627 biolink:NamedThing chondroblastic osteosarcoma An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. tmpte7i6ely_mondo_relaxed.owl chondrosarcomatous osteogenic sarcoma|CHOS|chondroblastic osteosarcoma|chondroblastic osteogenic sarcoma|chondroblastic osteosarcoma (morphologic abnormality) ONCOTREE:CHOS|ICDO:9181/3|NCIT:C4021|DOID:3372|UMLS:C0279603 owl:Class ENVO:01001683 biolink:NamedThing gaseous surface layer A fluid surface layer which is composed primarily of some gaseous material. tmpte7i6ely_mondo_relaxed.owl owl:Class HP:0003826 biolink:NamedThing Stillbirth Death of the fetus in utero after at least 20 weeks of gestation. tmpte7i6ely_mondo_relaxed.owl Stillborn|Fetal death|Foetal death|Stillbirth UMLS:C0015927|MSH:D050497|SNOMEDCT_US:276507005|MSH:D005313|UMLS:C0595939|SNOMEDCT_US:237364002 HP:0001625|HP:0001624 human_phenotype owl:Class MONDO:0003810 biolink:NamedThing bladder diffuse clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern. tmpte7i6ely_mondo_relaxed.owl bladder diffuse clear cell adenocarcinoma NCIT:C39849|DOID:6210|UMLS:C1511187 owl:Class MONDO:0043127 biolink:NamedThing mehta lewis patton syndrome tmpte7i6ely_mondo_relaxed.owl congenital heart disease, ptosis, hypodontia, and craniosynostosis UMLS:C2931120|GARD:0003450|MESH:C536147 owl:Class MONDO:0019678 biolink:NamedThing brachydactyly type A5 Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb. tmpte7i6ely_mondo_relaxed.owl absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly type A5 nail dysplasia|brachydactyly with absence of middle phalanges and hypoplastic nails UMLS:C1862138|MESH:C537091|SCTID:720570007|ICD10:Q73.8|Orphanet:93389|GARD:0000982 https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5 owl:Class MONDO:0015029 biolink:NamedThing reticular perineurioma tmpte7i6ely_mondo_relaxed.owl UMLS:CN197319|Orphanet:100000 owl:Class UBERON:0016552 biolink:NamedThing phlegm tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044324 biolink:NamedThing Al Kaissi syndrome Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}). tmpte7i6ely_mondo_relaxed.owl Growth retardation, spine malformation, dysmorphic facies, and developmental delay|ALKAS|AL KAISSI syndrome OMIM:617694|UMLS:CN502749 owl:Class MONDO:0020487 biolink:NamedThing Pontiac fever Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. tmpte7i6ely_mondo_relaxed.owl MedDRA:10054161|Orphanet:99748|UMLS:C0343528|ICD9:041.89|NCIT:C128335|ICD10:A48.2|DOID:0050150|SCTID:240447002 owl:Class MONDO:0012051 biolink:NamedThing periodontitis, aggressive, 2 tmpte7i6ely_mondo_relaxed.owl periodontitis, aggressive, 2|periodontitis, aggressive, type 2 MESH:C566946|UMLS:C1969478|OMIM:608526 owl:Class MONDO:0030490 biolink:NamedThing oocyte maturation defect 11 tmpte7i6ely_mondo_relaxed.owl OOMD11 OMIM:619643 owl:Class MONDO:0010454 biolink:NamedThing intellectual disability, XMEN-linked 88 tmpte7i6ely_mondo_relaxed.owl MRX88|mental retardation, X-linked 88|intellectual disability, X-linked 88|intellectual disability, XMEN-linked 88 UMLS:C3275444|Orphanet:777|OMIM:300852 owl:Class MONDO:0013020 biolink:NamedThing narcolepsy 5, susceptibility to tmpte7i6ely_mondo_relaxed.owl narcolepsy 5, susceptibility to|NRCLP5 Orphanet:2073|UMLS:C2748508|OMIM:612851 owl:Class MONDO:0012103 biolink:NamedThing spinocerebellar ataxia type 25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 25|SCA25 MESH:C537202|SCTID:718770005|UMLS:C1837518|DOID:0050974|Orphanet:101111|ICD10:G11.8|GARD:0009996|OMIM:608703 owl:Class MONDO:0009195 biolink:NamedThing erythema of acral regions tmpte7i6ely_mondo_relaxed.owl erythema of acral regions OMIM:227000 owl:Class MONDO:0033311 biolink:NamedThing Joubert syndrome 33 tmpte7i6ely_mondo_relaxed.owl Joubert syndrome 33|JBTS33 DOID:0080279|UMLS:CN601375|OMIM:617767 owl:Class MONDO:0001775 biolink:NamedThing chronic duodenal ileus tmpte7i6ely_mondo_relaxed.owl DOID:13687|UMLS:C0156087|ICD10:K31.5|ICD9:537.2|SCTID:52232007 owl:Class MONDO:0015272 biolink:NamedThing camptodactyly-taurinuria syndrome Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. tmpte7i6ely_mondo_relaxed.owl camptodactyly with taurinuria|familial streblodactyly with amino-aciduria|camptodactyly taurinuria MESH:C537972|UMLS:C2931681|ICD10:Q68.1|GARD:0001069|Orphanet:1325|SCTID:733466005 owl:Class MONDO:0023048 biolink:NamedThing ectodermal dysplasia neurosensory deafness tmpte7i6ely_mondo_relaxed.owl GARD:0002053|UMLS:C1857068 https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness owl:Class MONDO:0001874 biolink:NamedThing toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. tmpte7i6ely_mondo_relaxed.owl ototoxicity ICD9:386.34|SCTID:9062008|EFO:0006951|DOID:14081|SCTID:3344003|UMLS:C0155507 owl:Class MONDO:0007951 biolink:NamedThing masticatory muscles, hypertrophy of tmpte7i6ely_mondo_relaxed.owl masseter muscle Hypertrophy|masticatory muscles, hypertrophy of OMIM:154850|SCTID:699649006|MESH:C563600 owl:Class MONDO:0017602 biolink:NamedThing ALK-positive anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK). tmpte7i6ely_mondo_relaxed.owl anaplastic large cell lymphoma, ALK-positive|ALKoma|ALK+ ALCL|ALK+ anaplastic large cell lymphoma|ALCL, ALK+|ALK-positive anaplastic large cell lymphoma ICDO:9714/3|UMLS:C1332079|Orphanet:300895|NCIT:C37193|ICD10:C84.6 owl:Class MONDO:0007884 biolink:NamedThing leg ulcers, familial, of juvenile onset tmpte7i6ely_mondo_relaxed.owl leg ulcers, familial, of juvenile onset UMLS:C1835489|MESH:C563632|OMIM:150590 owl:Class MONDO:0016758 biolink:NamedThing microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. tmpte7i6ely_mondo_relaxed.owl Franek-Bocker-Kahlen syndrome|microcephaly - brain defect - spasticity - hypernatremia|microcephaly brain defect spasticity hypernatremia GARD:0003607|ICD10:G98|UMLS:CN202009|Orphanet:2523 https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia owl:Class MONDO:0010300 biolink:NamedThing intellectual disability, X-linked 53 tmpte7i6ely_mondo_relaxed.owl mental retardation, X-linked 53|MRX53|intellectual disability, X-linked 53 OMIM:300324|MESH:C564533|UMLS:C1845889|Orphanet:777 owl:Class MONDO:0007673 biolink:NamedThing Glucoglycinuria tmpte7i6ely_mondo_relaxed.owl Glucoglycinuria UMLS:C0268536|OMIM:138070|MESH:C562670 owl:Class NCBITaxon:319546 biolink:NamedThing Rickettsia conorii subsp. conorii tmpte7i6ely_mondo_relaxed.owl GC_ID:11|PMID:15766388 ncbi_taxonomy owl:Class MONDO:0023175 biolink:NamedThing Fontaine farriaux blanckaert syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002358 https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome owl:Class MONDO:0012008 biolink:NamedThing Lelis syndrome Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. tmpte7i6ely_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, with acanthosis nigricans|ectodermal dysplasia-acanthosis nigricans syndrome|Lelis syndrome UMLS:C1842307|SCTID:719429003|Orphanet:140936|OMIM:608290|MESH:C564261|GARD:0010367 https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome owl:Class MONDO:0006429 biolink:NamedThing splenic hodgkin lymphoma A rare Hodgkin lymphoma that arises from the spleen. tmpte7i6ely_mondo_relaxed.owl Hodgkin's lymphoma of the spleen|splenic Hodgkin's lymphoma|primary splenic Hodgkin's lymphoma|splenic Hodgkins lymphoma|Hodgkin's lymphoma of spleen|splenic Hodgkin's disease|Hodgkin's disease of the spleen|Hodgkin's disease of spleen EFO:1000548|SCTID:93527005|NCIT:C7295|UMLS:C0153791 owl:Class NCBITaxon:29263 biolink:NamedThing tick-borne encephalitis virus group tmpte7i6ely_mondo_relaxed.owl Tick-borne encephalitis viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020554 biolink:NamedThing Heiner syndrome Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. tmpte7i6ely_mondo_relaxed.owl cow's milk hypersensitivity Orphanet:99932|ICD9:518.89|ICD10:J99.8*|ICD10:E83.1+|SCTID:707441009|UMLS:CN207456 owl:Class MONDO:0004635 biolink:NamedThing postcricoid region cancer A primary or metastatic malignant neoplasm that affects the postcricoid region. tmpte7i6ely_mondo_relaxed.owl malignant tumor of pharyngoesophageal junction|malignant neoplasm of postcricoid area|malignant tumor of the postcricoid area|malignant postcricoid neoplasm|malignant neoplasm of the postcricoid area|malignant postcricoid tumor|malignant tumor of postcricoid area NCIT:C9323|SCTID:363400004|UMLS:C0496769|DOID:8660|ICD10:C13.0|ICD9:148.0 owl:Class MONDO:0100421 biolink:NamedThing acute myeloid leukemia, GATA1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.) tmpte7i6ely_mondo_relaxed.owl AML, NF-E1 Gene Mutation|AML, GF-1 Gene Mutation|AML, ERYF1 Gene Mutation|AML, NFE1 Gene Mutation|AML, GF1 Gene Mutation|AML, GATA1 Mutation|AML, GATA Binding Protein 1 Gene Mutation|AML, GATA1 gene mutation|AML, GATA-1 Gene Mutation NCIT:C82340 owl:Class MONDO:0012852 biolink:NamedThing inflammatory bowel disease 20 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24. tmpte7i6ely_mondo_relaxed.owl inflammatory bowel disease 20|IBD20|inflammatory bowel disease type 20 UMLS:C2676781|MESH:C567361|OMIM:612288|DOID:0110898 owl:Class MONDO:0017336 biolink:NamedThing fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency tmpte7i6ely_mondo_relaxed.owl fatal infantile HCM due to mitochondrial complex I deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency ICD10:I42.2|Orphanet:289527 owl:Class MONDO:0005487 biolink:NamedThing schizoaffective disorder A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. tmpte7i6ely_mondo_relaxed.owl NCIT:C94378|ICD9:295.7|DOID:5418|ICD10:F25|EFO:0005411|ICD10:F25.9 owl:Class MONDO:0022883 biolink:NamedThing craniofacial and skeletal defects tmpte7i6ely_mondo_relaxed.owl GARD:0001570 https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects owl:Class MONDO:0022098 biolink:NamedThing catamenial pneumothorax Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery. tmpte7i6ely_mondo_relaxed.owl catamenial pneumothorax|premenstrual pneumothorax SCTID:233642001|GARD:0009858|UMLS:C0340007|MESH:C538279 https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax owl:Class MONDO:0018709 biolink:NamedThing X-linked intellectual disability-hypotonia-movement disorder syndrome tmpte7i6ely_mondo_relaxed.owl OMIM:300958|Orphanet:457260 owl:Class MONDO:0001746 biolink:NamedThing optic disk drusen Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) tmpte7i6ely_mondo_relaxed.owl drusen of optic disc|optic nerve head drusen SCTID:33629003|ICD9:377.21|MESH:D015594|ICD10:H47.32|UMLS:C0029128|DOID:13561 owl:Class HGNC:25355 biolink:NamedThing SLC30A10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008976 biolink:NamedThing chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome tmpte7i6ely_mondo_relaxed.owl chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250|UMLS:C1859104|MESH:C565852 owl:Class MONDO:0010982 biolink:NamedThing ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin tmpte7i6ely_mondo_relaxed.owl ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin|ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin GARD:0002957|UMLS:C1832858|OMIM:601039|MESH:C563402 owl:Class MONDO:0004714 biolink:NamedThing atrophic muscular disease A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. tmpte7i6ely_mondo_relaxed.owl atrophic muscular disorder DOID:913|NCIT:C84574 owl:Class MONDO:0000967 biolink:NamedThing conventional lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. tmpte7i6ely_mondo_relaxed.owl classic type lipoma|conventional lipoma UMLS:C1333059|DOID:10193|NCIT:C27530 owl:Class MONDO:0032688 biolink:NamedThing polymicrogyria with or without vascular-type ehlers-danlos syndrome tmpte7i6ely_mondo_relaxed.owl PMGEDSV|POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME OMIM:618343 owl:Class HGNC:6547 biolink:NamedThing LDLR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007809 biolink:NamedThing ichthyosis hystrix gravior tmpte7i6ely_mondo_relaxed.owl Lambert type ichthyosis|porcupine Man|ichthyosis hystrix gravior|ichthyosis, Lambert type Orphanet:79504|ICD10:Q80.0|OMIM:146600|MESH:C536087|SCTID:254174005|GARD:0009497|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior owl:Class MONDO:0013479 biolink:NamedThing dilated cardiomyopathy 1HH Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy type 1HH|BAG3 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in BAG3|CMD1HH|cardiomyopathy, dilated, type 1Hh|cardiomyopathy, dilated, 1HH DOID:0110448|UMLS:C3151293|Orphanet:154|OMIM:613881|ICD10:I42.0 owl:Class MONDO:0017257 biolink:NamedThing idiopathic posterior uveitis Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. tmpte7i6ely_mondo_relaxed.owl ICD10:H20.0|Orphanet:280917 owl:Class MONDO:0100422 biolink:NamedThing acute myeloid leukemia, RUNX1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.) tmpte7i6ely_mondo_relaxed.owl AML, AMLCR1 Gene Mutation|AML, AML1 Gene Mutation|AML, Runt-Related Transcription Factor 1 Gene Mutation|AML, CBFalpha2 Mutation|AML, AML1 Mutation|AML, CBFA2 Gene Mutation|AML, Acute Myeloid Leukemia 1 Gene Mutation|AML, RUNX1 gene mutation NCIT:C38362|NCIT:C129786 owl:Class MONDO:0016310 biolink:NamedThing Niemann-Pick disease type C, adult neurologic onset tmpte7i6ely_mondo_relaxed.owl Orphanet:216986|ICD10:E75.2|UMLS:CN201116 owl:Class MONDO:0012657 biolink:NamedThing Mungan syndrome tmpte7i6ely_mondo_relaxed.owl pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|MUNGAN syndrome|pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities|MGS|visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities MESH:C548078|OMIM:611376|GARD:0010687 owl:Class MONDO:0022465 biolink:NamedThing anotia facial palsy cardiac defect A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot. tmpte7i6ely_mondo_relaxed.owl GARD:0000725 https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect owl:Class MONDO:0011221 biolink:NamedThing Weyers ulnar ray/oligodactyly syndrome tmpte7i6ely_mondo_relaxed.owl Weyers ulnar ray/oligodactyly syndrome OMIM:602418|UMLS:C1865566|GARD:0010178|MESH:C536696 https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome owl:Class HGNC:6931 biolink:NamedThing MC3R tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016687 biolink:NamedThing protoplasmic astrocytoma A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl protoplasmic astrocytic tumor|protoplasmic astrocytoma (morphologic abnormality)|protoplasmic astrocytoma ICD10:C71.9|MESH:D001254|DOID:7008|ICDO:9410/3|UMLS:C0334580|Orphanet:251598|NCIT:C4320 owl:Class MONDO:0003563 biolink:NamedThing diffuse pulmonary fibrosis Diffuse replacement of the lung tissue by connective tissue. tmpte7i6ely_mondo_relaxed.owl NCIT:C27216|UMLS:C0865849|DOID:5641 owl:Class MONDO:0026729 biolink:NamedThing congenital disorder of glycosylation, type ICC tmpte7i6ely_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc|CDG1CC OMIM:301031 owl:Class HGNC:28986 biolink:NamedThing ZNF592 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001694 biolink:NamedThing diffuse interstitial keratitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0155089|SCTID:17157001|DOID:13353|ICD10:H16.32|ICD9:370.52 owl:Class MONDO:0004672 biolink:NamedThing fasciolopsiasis A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. tmpte7i6ely_mondo_relaxed.owl infectious disease by Fasciolopsis|infection by Fasciolopsis buski DOID:888|ICD9:121.4|SCTID:54266002|ICD10:B66.5|UMLS:C0015656|NCIT:C128388 owl:Class MONDO:0011624 biolink:NamedThing transaldolase deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. tmpte7i6ely_mondo_relaxed.owl Taldo deficiency|Eyaid syndrome|transaldolase deficiency|TALDO deficiency ICD10:E74.8|OMIM:606003|Orphanet:101028|GARD:0010445|SCTID:124252008|MESH:C563207|ICD9:277.6|UMLS:C1291329 https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency owl:Class GO:0006839 biolink:NamedThing mitochondrial transport Transport of substances into, out of or within a mitochondrion. tmpte7i6ely_mondo_relaxed.owl mitochondrial alpha-ketoglutarate/malate transport|mitochondrial aspartate/glutamate transport|mitochondrial sodium/calcium ion exchange owl:Class UBERON:0014790 biolink:NamedThing lingual septum tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0044302 biolink:NamedThing congenital heart defects, dysmorphic facial features, and intellectual developmental disorder tmpte7i6ely_mondo_relaxed.owl CHDFIDD|congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder OMIM:617360|UMLS:C4479246 owl:Class MONDO:0007164 biolink:NamedThing spastic ataxia 1 Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene. tmpte7i6ely_mondo_relaxed.owl VAMP1 autosomal dominant spastic ataxia|spastic ataxia 1, autosomal dominant|autosomal dominant spastic ataxia caused by mutation in VAMP1|spastic ataxia type 1|autosomal dominant spastic ataxia type 1|SPAX1 ICD10:G11.4|DOID:0050772|UMLS:C1970107|OMIM:108600|MESH:C566993|Orphanet:251282 owl:Class MONDO:0010068 biolink:NamedThing spondyloepimetaphyseal dysplasia, sponastrime type A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. tmpte7i6ely_mondo_relaxed.owl short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia|spondylar and nasal alterations with striated metaphyses|Sponastrime dysplasia|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation|spondyloepimetaphyseal dysplasia Sponastrime type|sponastrime dysplasia|spondyloepimetaphyseal dysplasia, sponastrime type|spondylar and nasal alterations-striated metaphyses syndrome|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|spondyloepimetaphyseal dysplasia, Sponastrime type OMIM:271510|Orphanet:93357|SCTID:389161008|ICD10:Q77.7|DOID:5684|GARD:0004970|NCIT:C129031|ICD9:756.9|MESH:C535786 https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type owl:Class MONDO:0001547 biolink:NamedThing atrophic nonflaccid tympanic membrane tmpte7i6ely_mondo_relaxed.owl ICD10:H73.82|UMLS:C0155471|ICD9:384.82|DOID:12546|SCTID:72052003 owl:Class MONDO:0000988 biolink:NamedThing discharging ear Discharge or drainage of fluid from the ear. tmpte7i6ely_mondo_relaxed.owl ICD10:H92.1|ICD9:388.6|DOID:10261|ICD9:388.60|ICD10:H92.10|NCIT:C35199 owl:Class MONDO:0009686 biolink:NamedThing musk, inability to smell tmpte7i6ely_mondo_relaxed.owl musk, inability to smell OMIM:254150|UMLS:C1850807|MESH:C564980 owl:Class MONDO:0009449 biolink:NamedThing ciliary dyskinesia with defective radial spokes tmpte7i6ely_mondo_relaxed.owl immotile cilia syndrome due to defective radial spokes|immotile cilia syndrome, due to defective radial spokes|ciliary dyskinesia with defective radial spokes|cilia with defective radial spokes Orphanet:244|SCTID:233664005|MESH:C536286|OMIM:242670|GARD:0002981|UMLS:C0340035|ICD9:759.89 owl:Class MONDO:0042452 biolink:NamedThing tertiary lesion of yaws tmpte7i6ely_mondo_relaxed.owl tertiary stage of yaws|tertiary yaws|tertiary lesion of yaws UMLS:C0343833|SCTID:88037009 owl:Class MONDO:0025417 biolink:NamedThing fowlpox A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts. tmpte7i6ely_mondo_relaxed.owl diphtheria, fowl|fowl pox|Birdpox|Variola avium|epithelioma contagiosum|pox, fowl|Diphtherias, fowl|pox, Bird|fowl diphtheria|Bird pox|fowl Diphtherias MESH:D005586 owl:Class MONDO:0022653 biolink:NamedThing cardiomyopathy due to anthracyclines tmpte7i6ely_mondo_relaxed.owl GARD:0001107 https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines owl:Class MONDO:0020342 biolink:NamedThing congenital myopathy with excess of thin filaments tmpte7i6ely_mondo_relaxed.owl actin myopathy OMIM:161800|MESH:C579880|Orphanet:98904|ICD10:G71.2 owl:Class MONDO:0008129 biolink:NamedThing ophthalmoplegia, familial total, with iris transillumination tmpte7i6ely_mondo_relaxed.owl ophthalmoplegia, familial total, with iris transillumination UMLS:C1833836|MESH:C563499|OMIM:165098 owl:Class HGNC:11195 biolink:NamedThing SOX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030990 biolink:NamedThing Kohlschutter-Tonz syndrome-like tmpte7i6ely_mondo_relaxed.owl KTZSL OMIM:619229 owl:Class MONDO:0009800 biolink:NamedThing Blount disease, adolescent tmpte7i6ely_mondo_relaxed.owl Osteochondrosis deformans tibiae, adolescent|Blount disease, adolescent|tibia vara, adolescent UMLS:C3151572|Orphanet:2768|OMIM:259200 owl:Class MONDO:0011373 biolink:NamedThing urinary tract infections, recurrent, susceptibility to tmpte7i6ely_mondo_relaxed.owl urinary tract infections, recurrent, susceptibility to OMIM:603806 owl:Class MONDO:0022196 biolink:NamedThing chronic erosive gastritis tmpte7i6ely_mondo_relaxed.owl diffuse varioliform gastritis|ceg - chronic erosive gastritis|varioliform gastritis|idiopathic chronic, erosive gastritis|chronic erosive gastritis ICD9:535.40|SCTID:63137003|GARD:0006099|UMLS:C0267145 https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis owl:Class MONDO:0060562 biolink:NamedThing encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities tmpte7i6ely_mondo_relaxed.owl lipoyltransferase 2 deficiency|NELABA|encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668|UMLS:C4540052 owl:Class MONDO:0025353 biolink:NamedThing developmental and epileptic encephalopathy, 90 tmpte7i6ely_mondo_relaxed.owl developmental and epileptic encephalopathy 90|DEE90 OMIM:301058 owl:Class MONDO:0060592 biolink:NamedThing Sweeney-Cox syndrome tmpte7i6ely_mondo_relaxed.owl Sweeney-Cox syndrome|SWCOS DOID:0080538|OMIM:617746|UMLS:C4540299 owl:Class MONDO:0004559 biolink:NamedThing malignant glandular tumor of peripheral nerve sheath A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium. tmpte7i6ely_mondo_relaxed.owl malignant glandular neoplasm of the peripheral nerve sheath|malignant glandular peripheral nerve sheath neoplasm|malignant glandular peripheral nerve sheath tumor|malignant glandular schwannoma|malignant glandular tumor of the peripheral nerve sheath|glandular malignant peripheral nerve sheath tumor|glandular MPNST|malignant glandular tumor of peripheral nerve sheath|malignant glandular neoplasm of peripheral nerve sheath SCTID:699659007|UMLS:C1333821|ICD9:171.9|DOID:8420|NCIT:C6560 owl:Class MONDO:0017080 biolink:NamedThing occipital encephalocele tmpte7i6ely_mondo_relaxed.owl SCTID:42376006|Orphanet:268823|ICD10:Q01.2 owl:Class MONDO:0044001 biolink:NamedThing hearing loss, mixed conductive-sensorineural Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. tmpte7i6ely_mondo_relaxed.owl mixed type deafness|mixed conductive and sensorineural deafness|mixed hearing loss|loss, mixed hearing|hearing loss, mixed|mixed deafness|Losses, mixed hearing|hearing loss, mixed conductive sensorineural|mixed conductive and sensorineural hearing loss EFO:1001803|MESH:D046089|NCIT:C26974|UMLS:C0155552|SCTID:77507001 owl:Class MONDO:0013330 biolink:NamedThing agenesis of the corpus callosum and congenital lymphedema tmpte7i6ely_mondo_relaxed.owl agenesis of the corpus callosum and congenital lymphedema UMLS:C3150887|OMIM:613623 owl:Class MONDO:0017537 biolink:NamedThing Preaxial polydactyly of toes, unilateral tmpte7i6ely_mondo_relaxed.owl bifid great toes, unilateral|bifid hallux, unilateral|bifid halluces, unilateral ICD10:Q69.2|Orphanet:295175 owl:Class MONDO:0033948 biolink:NamedThing acquired angioedema with C1Inh deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:528663 owl:Class MONDO:0030925 biolink:NamedThing oocyte maturation defect 10 tmpte7i6ely_mondo_relaxed.owl oocyte maturation defect 10|OOMD10 OMIM:619176 owl:Class MONDO:0012402 biolink:NamedThing opioid dependence, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl opioid dependence, susceptibility to, 1|Ods1|opioid dependence, susceptibility to, type 1 OMIM:610064 owl:Class NCBITaxon:63673 biolink:NamedThing Turbo cornutus tmpte7i6ely_mondo_relaxed.owl Batillus cornutus|Turbo (Batillus) cornutus|Turbo (Taeniaturbo) cornutus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007997 biolink:NamedThing microspherophakia with hernia tmpte7i6ely_mondo_relaxed.owl microspherophakia with hernia UMLS:C1834881|OMIM:157150|MESH:C537468|GARD:0009462 https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia owl:Class MONDO:0012883 biolink:NamedThing acute promyelocytic leukemia An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. tmpte7i6ely_mondo_relaxed.owl acute promyelocytic leukemia with PML-rara|APML|promyelocytic leukemia|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|AML M3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara|acute myeloblastic leukemia type 3|AML with t(15;17)(q22;q12)|APML - acute promyelocytic leukemia|acute myeloid leukemia M3|acute myeloblastic leukemia 3|FAB M3|acute promyelocytic leukemia|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|APL|leukemia, acute promyelocytic|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara ICD10:C92.4|MedDRA:10001019|GARD:0000538|MESH:D015473|ICDO:9866/3|EFO:0000224|Orphanet:520|NCIT:C3182|OMIM:612376|DOID:0060318|UMLS:C0023487|SCTID:110004001|ICD10:C92.40 owl:Class MONDO:0004918 biolink:NamedThing central corneal ulcer tmpte7i6ely_mondo_relaxed.owl DOID:9910|UMLS:C0155069|ICD9:370.03|ICD10:H16.01|SCTID:7426009 owl:Class MONDO:0008282 biolink:NamedThing polyposis, intestinal, with multiple exostoses tmpte7i6ely_mondo_relaxed.owl polyposis, intestinal, with multiple exostoses OMIM:175450|MESH:C566776|UMLS:C1868005 owl:Class MONDO:0060707 biolink:NamedThing Ververi-Brady syndrome tmpte7i6ely_mondo_relaxed.owl VERBRAS|Ververi-Brady syndrome OMIM:617982|Orphanet:580940|UMLS:CN244927 owl:Class MONDO:0033481 biolink:NamedThing spinocerebellar ataxia 46 tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy|SCA46|spinocerebellar ataxia 46 DOID:0080288|OMIM:617770|UMLS:CN623018|Orphanet:589522 owl:Class MONDO:0007758 biolink:NamedThing epidermolytic palmoplantar keratoderma A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. tmpte7i6ely_mondo_relaxed.owl diffuse erythrodermic palmoplantar keratoderma, Vörner type|palmoplantar keratoderma, epidermolytic, with knuckle pads|epidermolytic palmoplantar keratoderma of VC6rner|hyperkeratosis, localized epidermolytic|hyperkeratosis palmoplantar localized epidermolytic|epidermolytic palmoplantar keratoderma of Vörner|Ppke|palmoplantar keratoderma, Vorner type|keratoderma, epidermolytic palmoplantar|palmoplantar keratoderma, epidermolytic|tylosis|keratosis palmaris Et plantaris Familiaris|diffuse erythrodermic palmoplantar keratoderma, Voerner type|keratosis of Greither|epidermolytic palmoplantar keratoderma of Voerner|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|EPPK ICD10:Q82.8|DOID:0080223|Orphanet:2199|GARD:0002826|UMLS:C0022584|SCTID:399955009|ICD9:757.39|UMLS:C1721006|NCIT:C84693|OMIM:144200 https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma owl:Class MONDO:0005682 biolink:NamedThing bronchopneumonia Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. tmpte7i6ely_mondo_relaxed.owl bronchial pneumonia|chest infection - bronchopneumonia|lobular pneumonia|chest infection - unspecified bronchopneumonia ICD9:485|MESH:D001996|DOID:12375|NCIT:C26710|ICD10:J18.0|UMLS:C0006285|EFO:0007184|SCTID:396285007 owl:Class MONDO:0022691 biolink:NamedThing cerebello-olivary atrophy tmpte7i6ely_mondo_relaxed.owl Cerebelloolivary atrophy GARD:0001198 https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy owl:Class MONDO:0015038 biolink:NamedThing lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia. tmpte7i6ely_mondo_relaxed.owl ICD10:Q04.3|UMLS:CN228904|Orphanet:100015 owl:Class MONDO:0009038 biolink:NamedThing craniosynostosis-fibular aplasia syndrome Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972. tmpte7i6ely_mondo_relaxed.owl craniosynostosis with fibular aplasia|Lowry syndrome Orphanet:1533|OMIM:218550|MESH:C565665|SCTID:732250002|UMLS:C1857492|ICD10:Q87.2 owl:Class MONDO:0008194 biolink:NamedThing Paramolar tubercle of bolk tmpte7i6ely_mondo_relaxed.owl Paramolar tubercle of bolk|bolk cusp OMIM:168200|SCTID:78305006 owl:Class MONDO:0009784 biolink:NamedThing ophthalmoplegic neuromuscular disorder with abnormal mitochondria tmpte7i6ely_mondo_relaxed.owl ophthalmoplegic neuromuscular disorder with abnormal mitochondria MESH:C564925|UMLS:C1850302|OMIM:258470 owl:Class MONDO:0018322 biolink:NamedThing HSD10 disease, infantile type HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age. tmpte7i6ely_mondo_relaxed.owl HSD10 deficiency, infantile type|HSD10 disease, classic type|MHBD deficiency, infantile type|MHBD deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type|2-methyl-3-hydroxybutyric aciduria, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|HSD10 deficiency, classic type|2-methyl-3-hydroxybutyric aciduria, classic type ICD10:E72.8|UMLS:CN204974|OMIM:300438|Orphanet:391428 owl:Class MONDO:0041182 biolink:NamedThing polymorphic light eruption tmpte7i6ely_mondo_relaxed.owl polymorphic light eruption|polymorphous light eruption|polymorphic photodermatitis SCTID:238525001|UMLS:C0031736 owl:Class HP:0031365 biolink:NamedThing Macular purpura Purpura that is flat (non-palpable, not raised). tmpte7i6ely_mondo_relaxed.owl Flat purpura 2017-08-29 12:35:34+00:00 peter human_phenotype owl:Class MONDO:0030355 biolink:NamedThing facioscapulohumeral muscular dystrophy 4, digenic tmpte7i6ely_mondo_relaxed.owl facioscapulohumeral muscular dystrophy 4, digenic|FSHD4 OMIM:619478 owl:Class MONDO:0033664 biolink:NamedThing Kilquist syndrome An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. tmpte7i6ely_mondo_relaxed.owl KILQS OMIM:619080 owl:Class MONDO:0008121 biolink:NamedThing onychogryposis, pedal, with keratosis plantaris and coarse hair tmpte7i6ely_mondo_relaxed.owl onychogryposis, pedal, with keratosis plantaris and coarse hair UMLS:C1833997|OMIM:164680|MESH:C563506 owl:Class CL:2000027 biolink:NamedThing cerebellum basket cell Any basket cell that is part of a cerebellum. tmpte7i6ely_mondo_relaxed.owl TermGenie 2014-06-25T00:24:03Z cell owl:Class UBERON:0001483 biolink:NamedThing skin of shoulder tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001828 biolink:NamedThing acquired color blindness Non-heritable difficulty in distinguishing colors. tmpte7i6ely_mondo_relaxed.owl acquired color vision deficiencies|acquired color vision deficiency|acquired color vision disorder NCIT:C118712|ICD10:H53.52|ICD9:368.55|DOID:13912|SCTID:71676008 owl:Class MONDO:0024379 biolink:NamedThing circadian rhythm sleep disorder, irregular sleep wake type A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day. tmpte7i6ely_mondo_relaxed.owl irregular sleep-wake disorder|irregular sleep-wake pattern|ISWD ICD10:G47.23|ICD9:327.33|SCTID:271793004|UMLS:C0393771 owl:Class MONDO:0003999 biolink:NamedThing juvenile pilocytic astrocytoma A pilocytic astrocytoma that occurs during adolescence. tmpte7i6ely_mondo_relaxed.owl juvenile pilocytic astrocytoma MESH:D001254|UMLS:C0280783|NCIT:C27081|DOID:6811 owl:Class MONDO:0007313 biolink:NamedThing cheilitis glandularis Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. tmpte7i6ely_mondo_relaxed.owl cheilitis glandularis Orphanet:1221|SCTID:26374003|OMIM:118330|GARD:0000412|UMLS:C0267034|MESH:C535921|ICD10:K13.0 https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis owl:Class MONDO:0015376 biolink:NamedThing first branchial cleft anomaly tmpte7i6ely_mondo_relaxed.owl first branchial cleft fistula|first branchial cleft cyst ICD10:Q18.0|Orphanet:141013|SCTID:73371000119103 owl:Class MONDO:0024350 biolink:NamedThing pityriasis steatoides tmpte7i6ely_mondo_relaxed.owl pityriasis steatoides ICD9:696.5|UMLS:C1274781|SCTID:403426003 owl:Class MONDO:0024639 biolink:NamedThing gastric enterochromaffin cell serotonin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome. tmpte7i6ely_mondo_relaxed.owl gastric EC cell serotonin-producing NET|gastric enterochromaffin cell serotonin-producing neuroendocrine tumor|gastric EC-cell serotonin-producing neuroendocrine tumor NCIT:C27443|UMLS:C3274137 owl:Class MONDO:0015343 biolink:NamedThing secondary acute transverse myelitis Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease. tmpte7i6ely_mondo_relaxed.owl disease-associated transverse myelitis Orphanet:139420|UMLS:CN199396|ICD10:G37.3 owl:Class MONDO:0008549 biolink:NamedThing thoracic dysostosis, isolated tmpte7i6ely_mondo_relaxed.owl thoracic dysostosis, isolated OMIM:187750|MESH:C566063|UMLS:C1861204 owl:Class MONDO:0003317 biolink:NamedThing metachronous kidney Wilms' tumor Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. tmpte7i6ely_mondo_relaxed.owl metachronous Wilms tumor|metachronous Wilms tumor of the kidney|metachronous Wilms' tumor UMLS:C1334705|NCIT:C38158|DOID:5178 owl:Class MONDO:0019654 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis tmpte7i6ely_mondo_relaxed.owl Orphanet:93217|ICD10:N04.8|UMLS:CN206527 owl:Class MONDO:0015836 biolink:NamedThing Bicervical bicornuate uterus with patent cervix and vagina tmpte7i6ely_mondo_relaxed.owl Orphanet:180111|ICD10:Q51.1 owl:Class MONDO:0009217 biolink:NamedThing Fanconi-like syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. tmpte7i6ely_mondo_relaxed.owl Fanconi-like syndrome OMIM:227850|MESH:C536855|DOID:0090066|SCTID:236469003|UMLS:C0151638 owl:Class MONDO:0010897 biolink:NamedThing schizophrenia 3 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23. tmpte7i6ely_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 6-related|schizophrenia 3 with or without an affective disorder|schizophrenia 3|SCZD3 UMLS:C1838069|DOID:0070079|OMIM:600511 owl:Class NCIT:C25218 biolink:NamedThing Intervention or Procedure tmpte7i6ely_mondo_relaxed.owl Intervention or Procedure owl:Class SO:0000578 biolink:NamedThing snoRNA_encoding A region that can be transcribed into a small nucleolar RNA (snoRNA). tmpte7i6ely_mondo_relaxed.owl snoRNA encoding owl:Class MONDO:0006018 biolink:NamedThing Wissler syndrome A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. tmpte7i6ely_mondo_relaxed.owl Wissler's subsepsis allergica|Wissler syndrome|Wissler-Fanconi syndrome (finding)|Wissler's syndrome MESH:D014924|EFO:0007547|DOID:3047|UMLS:C0043195 owl:Class MONDO:0007761 biolink:NamedThing hyperlipoproteinemia type IV A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. tmpte7i6ely_mondo_relaxed.owl carbohydrate inducible hyperlipemia|Fredrickson type IV Lipidemia|hyperlipoproteinemia type 4|hyperlipoproteinemia, type 4|familial hypertriglyceridemia|hyperlipoproteinemia, type IV|endogenous hyperlipidaemia|VLDL hyperlipoproteinemia|familial type IV hyperlipoproteinemia|Fredrickson type IV lipidaemia|Fredrickson type IV hyperlipoproteinemia|carbohydrate-inducible hyperlipemia OMIM:145750|UMLS:CN074246|MESH:D006953|DOID:1172|GARD:0006418|OMIM:144600|SCTID:238085009|ICD10:E78.1|ICD9:272.1|Orphanet:413|NCIT:C34711 https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4 owl:Class MONDO:0001969 biolink:NamedThing mixed gonadal dysgenesis A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. tmpte7i6ely_mondo_relaxed.owl gonadal dysgenesis mixed DOID:14449|GARD:0002539|SCTID:83579008|UMLS:C0018055|MESH:D006060 https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed owl:Class MONDO:0030512 biolink:NamedThing spastic paraplegia 85, autosomal recessive tmpte7i6ely_mondo_relaxed.owl SPG85 OMIM:619686 owl:Class MONDO:0012597 biolink:NamedThing prostate cancer, hereditary, 9 tmpte7i6ely_mondo_relaxed.owl prostate cancer, hereditary, type 9|prostate cancer, hereditary, 9|HPC9 MESH:C567031|UMLS:C1970250|OMIM:610997 owl:Class MONDO:0023595 biolink:NamedThing congenital myotonic dystrophy Myotonic dystrophy that is present at birth. tmpte7i6ely_mondo_relaxed.owl congenital myotonic dystrophy|Congenital Myotonic dystrophies|Myotonic dystrophies, Congenital|MYOTONIC dystrophy CONGEN|dystrophy, Congenital Myotonic|Myotonic dystrophy, Congenital|Congenital Myotonic dystrophy|Congenital myotonic dystrophy|dystrophies, Congenital Myotonic NCIT:C123308|GARD:0009134|UMLS:C0410226 owl:Class MONDO:0010458 biolink:NamedThing hypospadias 4, X-linked tmpte7i6ely_mondo_relaxed.owl hypospadias 4, X-linked, susceptibility to|HYSP4 OMIM:300856|Orphanet:440 owl:Class MONDO:0012715 biolink:NamedThing migraine with or without aura, susceptibility to, 12 tmpte7i6ely_mondo_relaxed.owl migraine with or without aura, susceptibility to, 12|MGR12 OMIM:611706 owl:Class HGNC:29683 biolink:NamedThing SLC25A32 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017699 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form tmpte7i6ely_mondo_relaxed.owl glycogen storage disease type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form|GBE deficiency, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form Orphanet:308684|OMIM:232500|MedDRA:10053250|ICD10:E74.0 owl:Class MONDO:0008407 biolink:NamedThing neurogenic scapuloperoneal syndrome, Kaeser type tmpte7i6ely_mondo_relaxed.owl SCPNK|stark-Kaeser syndrome|scapuloperoneal syndrome, neurogenic type, of Kaeser|scapuloperoneal syndrome, neurogenic, Kaeser type|Kaeser syndrome UMLS:C1867005|GARD:0010312|MESH:C566695|Orphanet:85146|DOID:0111551|ICD10:G12.1|OMIM:181400 https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type owl:Class MONDO:0001612 biolink:NamedThing carotid stenosis A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. tmpte7i6ely_mondo_relaxed.owl carotid artery stenosis|stenosis, carotid artery HP:0100546|MESH:D016893|UMLS:C0007282|ICD9:433.10|SCTID:64586002|NCIT:C95804|DOID:13001 owl:Class MONDO:0007192 biolink:NamedThing beta-amino acids, renal transport of tmpte7i6ely_mondo_relaxed.owl AABT|taurine renal reabsorption|BETA-amino acids, renal TRANSPORT OF UMLS:C1862289|OMIM:109660 owl:Class MONDO:0020404 biolink:NamedThing shone complex A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. tmpte7i6ely_mondo_relaxed.owl shone's syndrome (greater than 3 sites)|shone syndrome NCIT:C99058|MedDRA:10066802|ICD9:746.84|SCTID:41371000119100|UMLS:C1868705|ICD10:Q23.8|Orphanet:99063 owl:Class MONDO:0042496 biolink:NamedThing ergotism Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine. tmpte7i6ely_mondo_relaxed.owl fire, St. Anthonys|Saint Anthony fire|St. Anthonys fire|ergotisms|St Anthony's fire|poisoning, ergot|poisonings, ergot|ergotism|Saint Anthony's fire|ergot poisoning|Saint Anthonys fire|St. Anthony's fire|ergot poisonings|St. Anthony fire GARD:0000196|SCTID:51510002|MESH:D004881|ICD9:988.2 owl:Class MONDO:0017931 biolink:NamedThing hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. tmpte7i6ely_mondo_relaxed.owl HIBM4 Orphanet:324381|UMLS:CN227223|ICD10:G71.8 owl:Class MONDO:0016379 biolink:NamedThing erosive pustular dermatosis of the scalp Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia. tmpte7i6ely_mondo_relaxed.owl UMLS:C0406464|SCTID:238733003|Orphanet:222|GARD:0002188 https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp owl:Class MONDO:0023655 biolink:NamedThing immunodeficiency 14b, autosomal recessive tmpte7i6ely_mondo_relaxed.owl IMD14B OMIM:619281 owl:Class MONDO:0001446 biolink:NamedThing low compliance bladder tmpte7i6ely_mondo_relaxed.owl hyperactivity of bladder|hypertonic bladder|low bladder compliance|hypertonicity of bladder DOID:12144|ICD9:596.52|UMLS:C0489967|SCTID:9009001 owl:Class MONDO:0010685 biolink:NamedThing myopia 1, X-linked tmpte7i6ely_mondo_relaxed.owl MYP1|myopia 1, X-linked OMIM:310460|UMLS:C1839612|MESH:C564091 owl:Class MONDO:0003966 biolink:NamedThing testicular monophasic choriocarcinoma A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. tmpte7i6ely_mondo_relaxed.owl DOID:6693|NCIT:C39935|UMLS:C1515290 owl:Class MONDO:0004498 biolink:NamedThing sacral spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the sacral region of the spinal cord. tmpte7i6ely_mondo_relaxed.owl meningioma of sacral spinal canal and spinal cord|sacral intraspinal meningioma|meningioma of the sacral spinal canal and spinal cord UMLS:C1335893|NCIT:C5299|DOID:8203 owl:Class HP:0007754 biolink:NamedThing Macular dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. tmpte7i6ely_mondo_relaxed.owl UMLS:C0730292 HP:0007798|HP:0007999|HP:0007638|HP:0007914|HP:0007919 human_phenotype owl:Class MONDO:0034987 biolink:NamedThing intraductal tubulopapillary neoplasm of pancreas tmpte7i6ely_mondo_relaxed.owl Orphanet:580572 owl:Class MONDO:0024421 biolink:NamedThing short stature contractures hypotonia tmpte7i6ely_mondo_relaxed.owl Hennekam Koss de Geest syndrome GARD:0004839 Editor note: disappeared from Orphanet? owl:Class MONDO:0013078 biolink:NamedThing type 1 diabetes mellitus 24 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31. tmpte7i6ely_mondo_relaxed.owl IDDM24|diabetes mellitus, insulin-dependent, 24|insulin-dependent diabetes mellitus 24 DOID:0110761|MESH:C567818|UMLS:C2751697|OMIM:613006|ICD10:E10 owl:Class MONDO:0023167 biolink:NamedThing focal alopecia congenital megalencephaly tmpte7i6ely_mondo_relaxed.owl GARD:0002349 https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly owl:Class MONDO:0009169 biolink:NamedThing endocardial fibroelastosis Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. tmpte7i6ely_mondo_relaxed.owl Elastomyofibrosis|EFE|endocardial fibroelastosis|endomyocardial fibroelastosis UMLS:C0014117|ICD9:425.3|SCTID:65457005|EFO:0007251|DOID:12929|Orphanet:2022|GARD:0006336|MESH:D004695|MedDRA:10014663|OMIM:226000|ICD10:I42.4|NCIT:C98922 Editor notes: ORDO classifies as both familial and non-familial https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis owl:Class MONDO:0015053 biolink:NamedThing hereditary angioedema type 1 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpte7i6ely_mondo_relaxed.owl HAE-I|hereditary angioneurotic edema type 1|HAE 1 ICD9:279.8|ICD10:D84.1|Orphanet:100050|SCTID:234619000|OMIM:106100 owl:Class MONDO:0014888 biolink:NamedThing MIRAGE syndrome An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. tmpte7i6ely_mondo_relaxed.owl myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy|mirage syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|mirage NCIT:C147530|OMIM:617053|Orphanet:494433|UMLS:C4284088|GARD:0013108 owl:Class MONDO:0007519 biolink:NamedThing Edinburgh malformation syndrome Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. tmpte7i6ely_mondo_relaxed.owl Edinburgh malformation syndrome|typus Edinburgensis OMIM:129850|MESH:C563051|GARD:0002074|ICD10:Q95.2|UMLS:C0795933|Orphanet:1895 https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome owl:Class MONDO:0004775 biolink:NamedThing lens-induced iridocyclitis tmpte7i6ely_mondo_relaxed.owl lens-induced iridocyclitis DOID:9388|ICD10:H20.2|ICD9:364.23|UMLS:C0339320|SCTID:70461003 owl:Class MONDO:0004455 biolink:NamedThing classic congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. tmpte7i6ely_mondo_relaxed.owl classic congenital mesoblastic nephroma UMLS:C1516475|DOID:8083|NCIT:C39814 owl:Class MONDO:0015755 biolink:NamedThing myopathy with hexagonally cross-linked tubular arrays Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. tmpte7i6ely_mondo_relaxed.owl Orphanet:171889|SCTID:764994007|ICD10:G71.2 owl:Class FOODON:00002373 biolink:NamedThing food product by meal type A meal type is the name of an eating occasion that may have location, food type, or other customary contextual features. (Damion's 1st draft definition) tmpte7i6ely_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0008356 biolink:NamedThing radial heads, posterior dislocation of tmpte7i6ely_mondo_relaxed.owl radial heads, posterior dislocation of OMIM:179200|UMLS:C1867398|MESH:C566728 owl:Class MONDO:0013790 biolink:NamedThing mirror movements 2 Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene. tmpte7i6ely_mondo_relaxed.owl familial congenital mirror movements caused by mutation in RAD51|RAD51 familial congenital mirror movements|mirror movements type 2|mirror movements 2|MRMV2 OMIM:614508|Orphanet:238722|UMLS:C3281089 owl:Class MONDO:0010207 biolink:NamedThing woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome tmpte7i6ely_mondo_relaxed.owl Salamon syndrome|woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears|wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|woolly hair hypotrichosis everted lower lip and outstanding ears GARD:0005594|OMIM:278200|Orphanet:1409|SCTID:239023005|MESH:C536746 owl:Class HGNC:6169 biolink:NamedThing ITIH4 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0005592 biolink:NamedThing collagen type XI trimer A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017077 biolink:NamedThing myelocystocele tmpte7i6ely_mondo_relaxed.owl ICD10:Q05.6|ICD10:Q05.1|Orphanet:268813|ICD10:Q05.2|ICD10:Q05.4|ICD10:Q05.0|ICD10:Q05.5|SCTID:203994003|ICD10:Q05.3|ICD10:Q05.9|ICD10:Q05.8|ICD10:Q05.7 owl:Class MONDO:0015596 biolink:NamedThing non-herpetic acute limbic encephalitis Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. tmpte7i6ely_mondo_relaxed.owl Orphanet:163924|ICD10:G04.8|SCTID:764998005 owl:Class MONDO:0023153 biolink:NamedThing tuberculous ascites A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum. tmpte7i6ely_mondo_relaxed.owl tuberculous ascites SCTID:4501007|NCIT:C27076|UMLS:C0275919 owl:Class HGNC:12591 biolink:NamedThing UROD tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010129 biolink:NamedThing thymic-renal-anal-lung dysplasia This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. tmpte7i6ely_mondo_relaxed.owl syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)|thymic-renal-anal-lung dysplasia ICD10:Q87.8|Orphanet:3326|UMLS:C1848812|GARD:0005202|SCTID:723555007|MESH:C536907|OMIM:274265 https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia owl:Class MONDO:0060690 biolink:NamedThing phenytoin toxicity tmpte7i6ely_mondo_relaxed.owl arene oxide detoxification defect|fetal hydantoin syndrome|phenytoin toxicity|diphenylhydantoin, defect in hydroxylation of OMIM:617955 owl:Class HGNC:10718 biolink:NamedThing SELE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0054866 biolink:NamedThing sudden arrhythmia death syndrome tmpte7i6ely_mondo_relaxed.owl SADS|sudden cardiac death due to cardiac arrhythmia|sudden arrhythmic death syndrome UMLS:C2721586|GARD:0009434|SCTID:735686002 owl:Class MONDO:0032714 biolink:NamedThing facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome tmpte7i6ely_mondo_relaxed.owl FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME|FHEIG OMIM:618381 owl:Class MONDO:0006133 biolink:NamedThing cervical adenoid cystic carcinoma A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present. tmpte7i6ely_mondo_relaxed.owl cervical adenoid cystic carcinoma|adenoid cystic carcinoma of the uterine cervix|cervical adenoid cystic cancer|cervix uteri adenoid cystic carcinoma|uterine cervix adenoid cystic carcinoma|adenoid cystic carcinoma of the cervix uteri|cervix adenoid cystic carcinoma|adenoid cystic carcinoma of the cervix|adenoid cystic carcinoma of cervix|adenoid cystic carcinoma of uterine cervix|adenoid cystic carcinoma of cervix uteri NCIT:C6346|DOID:4867|UMLS:C1332911|EFO:1000161|ONCOTREE:CACC owl:Class MONDO:0016498 biolink:NamedThing acute pure sensory neuropathy tmpte7i6ely_mondo_relaxed.owl acute pure sensory Guillain-BarrC) syndrome|acute pure sensory Guillain-Barré syndrome|acute pure sensory GBS Orphanet:231450|UMLS:CN201501|ICD10:G61.0 owl:Class MONDO:0012305 biolink:NamedThing photoparoxysmal response 3 tmpte7i6ely_mondo_relaxed.owl photoparoxysmal response with or without myoclonic epilepsy|photoparoxysmal response 3|PPR3 MESH:C563695|Orphanet:166409|UMLS:C1835966|OMIM:609573 owl:Class MONDO:0011548 biolink:NamedThing cerebral palsy, ataxic, autosomal recessive tmpte7i6ely_mondo_relaxed.owl cerebral palsy ataxic|cerebral palsy, ataxic, autosomal recessive|Acp|ataxic cerebral palsy ICD9:343.8|OMIM:605388|GARD:0010451 https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic owl:Class MONDO:0006385 biolink:NamedThing primary intraosseous squamous cell carcinoma A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor. tmpte7i6ely_mondo_relaxed.owl PIOSCC NCIT:C54295|EFO:1000492|UMLS:C1709663 owl:Class MONDO:0008455 biolink:NamedThing spinal muscular atrophy, segmental tmpte7i6ely_mondo_relaxed.owl spinal muscular atrophy, segmental UMLS:C1866774|MESH:C566670|OMIM:183020 owl:Class MONDO:0006381 biolink:NamedThing plexiform ameloblastoma A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma. tmpte7i6ely_mondo_relaxed.owl NCIT:C39753|EFO:1000487|UMLS:C0457529 owl:Class MONDO:0054737 biolink:NamedThing Fraser syndrome 1 tmpte7i6ely_mondo_relaxed.owl Fraser syndrome 1|Fraser syndrome|cryptophthalmos-syndactyly syndrome|FRASRS1|cryptophthalmos with Other malformations OMIM:219000|DOID:0111405 owl:Class MONDO:0012156 biolink:NamedThing myasthenic syndrome, congenital, 1B, fast-channel A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q. tmpte7i6ely_mondo_relaxed.owl congenital myasthenic syndrome 1B|congenital myasthenic syndrome 1B, fast-channel|myasthenic syndrome, congenital, 1B, fast-channel|CMS1B|congenital myasthenic syndrome type 1B|myasthenic syndrome, congenital, 1B, FAST-channel UMLS:C4225405|OMIM:608930|Orphanet:590|DOID:0110662|UMLS:C1837122 owl:Class HGNC:3341 biolink:NamedThing EMX2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017065 biolink:NamedThing lumbosacral spina bifida aperta tmpte7i6ely_mondo_relaxed.owl UMLS:CN202424|Orphanet:268388 owl:Class MONDO:0022113 biolink:NamedThing central centrifugal cicatricial alopecia tmpte7i6ely_mondo_relaxed.owl central centrifugal cicatricial alopecia|central centrifugal alopecia|CCCA|hot comb alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA OMIM:618352|UMLS:C1274708|SCTID:109441000119102|ICD9:704.09|GARD:0010826 https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia owl:Class MONDO:0007245 biolink:NamedThing cafe au lait spots, multiple A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. tmpte7i6ely_mondo_relaxed.owl cafe-au-lait spots, multiple|autosomal dominant café au lait spots|multiple café-au-lait spots|multiple cafe-au-lait spots|familial café-au-lait spots|multiple cafe-au-lait syndrome|NF6|multiple café-au-lait syndrome|neurofibromatosis type 6|familial cafe-au-lait spots GARD:0003967|GARD:0001050|UMLS:CN035858|OMIM:114030|Orphanet:2678|UMLS:C1861975|MESH:C537421|ICD10:L81.3 https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots owl:Class HGNC:6860 biolink:NamedThing MAP3K8 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015480 biolink:NamedThing coloboma of superior eyelid Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. tmpte7i6ely_mondo_relaxed.owl superior palpebral coloboma SCTID:763132003|Orphanet:155884|ICD10:Q10.3 Editor note: TODO axioms owl:Class MONDO:0022404 biolink:NamedThing retinal ciliopathy due to mutation in usher gene tmpte7i6ely_mondo_relaxed.owl Orphanet:156177 owl:Class MONDO:0005238 biolink:NamedThing round cell liposarcoma A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma. tmpte7i6ely_mondo_relaxed.owl cellular myxoid liposarcoma|round cell liposarcoma|round cell liposarcoma (morphologic abnormality) ICDO:8853/3|ICD9:171.9|NCIT:C4252|DOID:5692|SCTID:404070007|EFO:0003084|UMLS:C0334471 owl:Class MONDO:0000259 biolink:NamedThing asymptomatic dengue tmpte7i6ely_mondo_relaxed.owl DOID:0050143 owl:Class MONDO:0022644 biolink:NamedThing cardiac hydatid cysts with intracavitary expansion tmpte7i6ely_mondo_relaxed.owl Cardiac hydatidosis GARD:0000199 https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion owl:Class MONDO:0008068 biolink:NamedThing navicular bone, accessory tmpte7i6ely_mondo_relaxed.owl navicular bone, accessory 2022-04-01 MESH:C536002|OMIM:161600|GARD:0008543 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0011834 biolink:NamedThing spinocerebellar ataxia type 18 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia. tmpte7i6ely_mondo_relaxed.owl sensorimotor neuropathy with ataxia, autosomal dominant|SCA18|spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia autosomal dominant|SMNA OMIM:607458|ICD10:G11.8|UMLS:C4304848|UMLS:C1843884|MESH:C537197|SCTID:719250005|GARD:0009976|DOID:0050969|Orphanet:98771 owl:Class MONDO:0015599 biolink:NamedThing atopic keratoconjunctivitis Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. tmpte7i6ely_mondo_relaxed.owl ICD9:370.49|ICD10:H16.2|Orphanet:163934|MedDRA:10069664|UMLS:C1274788|SCTID:403434009 owl:Class HGNC:8125 biolink:NamedThing OGG1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0011813 biolink:NamedThing polydactyly, postaxial, type A3 tmpte7i6ely_mondo_relaxed.owl postaxial polydactyly, type A3|Papa3|polydactyly, postaxial, type A3|PAPA3 UMLS:C1846452|Orphanet:93334|OMIM:607324|MESH:C564590 owl:Class MONDO:0008166 biolink:NamedThing ovalocytosis, hereditary hemolytic, with defective erythropoiesis tmpte7i6ely_mondo_relaxed.owl ovalocytosis, hereditary hemolytic, with defective erythropoiesis OMIM:166910|MESH:C563479|UMLS:C1833689 owl:Class MONDO:0007692 biolink:NamedThing hairy ears tmpte7i6ely_mondo_relaxed.owl hypertrichosis pinnae auris|hairy ears 2022-04-01 MESH:C562484|OMIM:139500|SCTID:89000008 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HP:0003367 biolink:NamedThing Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpte7i6ely_mondo_relaxed.owl Abnormality of the femoral neck|Abnormal neck of thigh bone UMLS:C4025621 human_phenotype owl:Class MONDO:0032907 biolink:NamedThing lymphatic malformation 8 tmpte7i6ely_mondo_relaxed.owl LYMPHATIC MALFORMATION 8|LMPHM8 OMIM:618773 owl:Class MONDO:0004806 biolink:NamedThing chronic eosinophilic pneumonia Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. tmpte7i6ely_mondo_relaxed.owl eosinophilic pneumonia, chronic|cryptogenic pulmonary eosinophilia SCTID:233692000|NCIT:C34471|DOID:9502 owl:Class MONDO:0001552 biolink:NamedThing dyscalculia A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. tmpte7i6ely_mondo_relaxed.owl dyscalculia (disease)|disorder of arithmetical skills|mathematics disorder|dyscalculia dyscalculia (disease) NCIT:C97165|SCTID:47916000|MESH:D060705|HP:0002442|DOID:12568|ICD9:315.1 owl:Class MONDO:0011036 biolink:NamedThing porencephaly-cerebellar hypoplasia-internal malformations syndrome Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. tmpte7i6ely_mondo_relaxed.owl Bonnemann Meinecke syndrome|porencephaly, cerebellar hypoplasia, and internal malformations|porencephaly cerebellar hypoplasia internal malformations|Bonnemann-Meinecke syndrome ICD10:Q87.8|UMLS:C1832472|SCTID:763821001|OMIM:601322|GARD:0004437|MESH:C536336|Orphanet:2941 owl:Class MONDO:0022791 biolink:NamedThing coarse face hypotonia constipation tmpte7i6ely_mondo_relaxed.owl Sondheimer syndrome GARD:0001412 https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation owl:Class MONDO:0011175 biolink:NamedThing Friedreich ataxia 2 Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11 tmpte7i6ely_mondo_relaxed.owl FRDA2|Friedreich ataxia 2 DOID:0111219|Orphanet:95|UMLS:C1865981|OMIM:601992|MESH:C566594 owl:Class GO:0016012 biolink:NamedThing sarcoglycan complex A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex. tmpte7i6ely_mondo_relaxed.owl sarcoglycan-sarcospan complex owl:Class MONDO:0008333 biolink:NamedThing pseudoxanthoma elasticum, forme fruste An autosomal dominant form of PXE. tmpte7i6ely_mondo_relaxed.owl pseudoxanthoma elasticum, forme fruste|pseudoxanthoma elasticum, heterozygous Orphanet:758|OMIM:177850|GARD:0010104 https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste owl:Class MONDO:0020845 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 tmpte7i6ely_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5|progressive external ophthalmoplegia, autosomal recessive 5|PEOB5 OMIM:618098|DOID:0111524 owl:Class MONDO:0001022 biolink:NamedThing disuse amblyopia tmpte7i6ely_mondo_relaxed.owl deprivation amblyopia SCTID:193638002|DOID:10378|UMLS:C0152189|ICD9:368.02|ICD10:H53.01 owl:Class MONDO:0012452 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 65 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3. tmpte7i6ely_mondo_relaxed.owl autosomal recessive deafness 65|autosomal recessive nonsyndromic deafness type 65|deafness, autosomal recessive 65|DFNB65|autosomal recessive nonsyndromic deafness 65 DOID:0110516|ICD10:H90.3|MESH:C565211|UMLS:C1853248|OMIM:610248 owl:Class NBO:0002603 biolink:NamedThing regulation of sexual activity "Any process that modulates the frequency, rate or extent of sexual activity, the specific actions or reactions of an organism in response to external or internal stimuli." [NBOC:GVG] tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033656 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 21 tmpte7i6ely_mondo_relaxed.owl MC4DN21 OMIM:619065 owl:Class MONDO:0007206 biolink:NamedThing bone pain, periodic tmpte7i6ely_mondo_relaxed.owl bone pain, periodic OMIM:112270 owl:Class PATO:0000460 biolink:NamedThing abnormal A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. tmpte7i6ely_mondo_relaxed.owl atypical|atypia|aberrant|defective owl:Class ENVO:01000041 biolink:NamedThing neritic sea surface microlayer biome The neritic sea surface microlayer (SML) biome comprises the top 1000 micrometers of marine surface waters occurring above a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0023170 biolink:NamedThing focal or multifocal malformations in neuronal migration tmpte7i6ely_mondo_relaxed.owl GARD:0002350 https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration owl:Class MONDO:0012178 biolink:NamedThing intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature tmpte7i6ely_mondo_relaxed.owl mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature|intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature OMIM:609037|UMLS:C1836915|MESH:C563810 owl:Class MONDO:0030071 biolink:NamedThing retinitis pigmentosa 89 tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa 89|RETINITIS PIGMENTOSA 89|RP89 OMIM:618955 owl:Class MONDO:0015967 biolink:NamedThing monogenic diabetes Rare genetic diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl monogenic diabetes|rare genetic diabetes mellitus Orphanet:183625 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0010875 biolink:NamedThing pachydermodactyly, familial tmpte7i6ely_mondo_relaxed.owl pachydermodactyly, familial OMIM:600356|MESH:C563947|UMLS:C1838218 owl:Class MONDO:0017192 biolink:NamedThing sporadic secreting paraganglioma tmpte7i6ely_mondo_relaxed.owl UMLS:CN202632|Orphanet:276627|ICD10:D44.7|ICD10:C75.5 owl:Class MONDO:0016451 biolink:NamedThing idiopathic hypersomnia with long sleep time Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia. tmpte7i6ely_mondo_relaxed.owl SCTID:442416002|ICD10:F51.1|UMLS:C2711059|ICD9:327.11|Orphanet:228315|ICD10:G47.11 owl:Class MONDO:0017112 biolink:NamedThing isolated unilateral hemispheric cerebellar hypoplasia Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. tmpte7i6ely_mondo_relaxed.owl Orphanet:269218|ICD10:Q04.3|SCTID:766934006 owl:Class MONDO:0022941 biolink:NamedThing deafness hypospadias metacarpal and metatarsal syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001692 https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome owl:Class MONDO:0030008 biolink:NamedThing combined oxidative phosphorylation deficiency 42 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 42|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42|COXPD42 OMIM:618839 owl:Class MONDO:0015838 biolink:NamedThing cordiform uterus tmpte7i6ely_mondo_relaxed.owl uterus cordiformis|uterus arcuatus Orphanet:180118|ICD10:Q51.3|SCTID:14689000 owl:Class MONDO:0012935 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl Clls4|leukemia, chronic lymphocytic, susceptibility to, 4|leukemia, chronic lymphocytic, susceptibility to, type 4 OMIM:612558|Orphanet:67038 owl:Class MONDO:0022403 biolink:NamedThing Ahumada Del Castillo syndrome A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins. tmpte7i6ely_mondo_relaxed.owl amenorrhea galactorrhea FSH decrease syndrome|Argonz Del Castillo syndrome|galactorrhea amenorrhea without pregnancy|nonpuerperal galactorrhe amenorrhea|Argonz Ahumada Del Castillo syndrome GARD:0005763 https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome owl:Class MONDO:0015521 biolink:NamedThing juvenile or adult CACH syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:157719|ICD10:E75.2|UMLS:CN199660|OMIM:603896 owl:Class MONDO:0011207 biolink:NamedThing xanthomatosis, susceptibility to tmpte7i6ely_mondo_relaxed.owl xanthomatosis, susceptibility to UMLS:C1865704|OMIM:602247|Orphanet:391665 owl:Class MONDO:0001156 biolink:NamedThing borderline personality disorder A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior. tmpte7i6ely_mondo_relaxed.owl BPD|borderline personality disorder|borderline personality disorder (disease) borderline personality disorder (disease) ICD10:F60.3|ICD9:301.83|SCTID:20010003|NCIT:C92633|DOID:10930|MESH:D001883|HP:0012076 owl:Class MONDO:0010904 biolink:NamedThing setting-Sun phenomenon, familial benign tmpte7i6ely_mondo_relaxed.owl setting-Sun phenomenon, familial benign MESH:C563470|OMIM:600598|UMLS:C1833577 owl:Class MONDO:0000943 biolink:NamedThing acute hydrops keratoconus tmpte7i6ely_mondo_relaxed.owl acute hydrops of cornea|keratoconus, acute hydrops|acute corneal hydrops UMLS:C0339286|ICD9:371.62|DOID:10125|SCTID:111523009 owl:Class MONDO:0032730 biolink:NamedThing leukodystrophy, hypomyelinating, 18 tmpte7i6ely_mondo_relaxed.owl HLD18|LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM:618404 owl:Class MONDO:0030449 biolink:NamedThing deafness, autosomal recessive 118, with cochlear aplasia tmpte7i6ely_mondo_relaxed.owl DFNB118 OMIM:619553 owl:Class MONDO:0019890 biolink:NamedThing non-distal trisomy 9q Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. tmpte7i6ely_mondo_relaxed.owl non-telomeric trisomy 9q|non-distal duplication 9q|non-distal trisomy type 9q Orphanet:96112|ICD10:Q92.3|SCTID:764997000 owl:Class MONDO:0012038 biolink:NamedThing speech-sound disorder tmpte7i6ely_mondo_relaxed.owl speech-sound disorder|SSD UMLS:C4078288|MESH:C563928|OMIM:608445 owl:Class MONDO:0003640 biolink:NamedThing verruciform xanthoma of skin A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. tmpte7i6ely_mondo_relaxed.owl cutaneous verruciform xanthoma|skin verruciform xanthoma|verruciform xanthoma of the skin|verruciform xanthoma|verruciform xanthoma (morphologic abnormality) ICD9:215.9|NCIT:C4478|SCTID:254756007|DOID:5769|UMLS:C0346054 owl:Class MONDO:0011079 biolink:NamedThing rhizomelic dysplasia, Patterson-Lowry type Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. tmpte7i6ely_mondo_relaxed.owl rhizomelic dysplasia Patterson Lowry type|rhizomelic dysplasia, Patterson-Lowry type|Patterson Lowry syndrome|Patterson-Lowry rhizomelic dysplasia SCTID:715505002|MESH:C537609|UMLS:C1832359|GARD:0004703|OMIM:601438|Orphanet:2831|ICD10:Q78.8 https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type owl:Class MONDO:0011254 biolink:NamedThing brachydactyly, intraventricular septal defect, and deafness tmpte7i6ely_mondo_relaxed.owl brachydactyly, intraventricular septal defect, and deafness OMIM:602561|MESH:C566521|UMLS:C1865182 owl:Class MONDO:0008071 biolink:NamedThing autosomal dominant progressive nephropathy with hypertension tmpte7i6ely_mondo_relaxed.owl renal failure, adult-onset|nephritis, familial, without deafness or ocular defect|nephropathy, familial|RFH1|renal failure, progressive, with hypertension SCTID:703310005|OMIM:161900|UMLS:C0403443|ICD10:I15.1|UMLS:C3839782|ICD9:583.9|MESH:C562889|Orphanet:88659 owl:Class MONDO:0042601 biolink:NamedThing Samson-Gardner syndrome tmpte7i6ely_mondo_relaxed.owl craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia|Samson Gardner syndrome GARD:0000151|UMLS:C2931448|MESH:C537230 owl:Class HGNC:16628 biolink:NamedThing SLC49A4 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017217 biolink:NamedThing visceral calciphylaxis Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. tmpte7i6ely_mondo_relaxed.owl Orphanet:280068|ICD10:E83.5 owl:Class MONDO:0010905 biolink:NamedThing cone-rod dystrophy 1 tmpte7i6ely_mondo_relaxed.owl CORD1|CRD1|Crd1|cone-rod dystrophy 1|cone-rod dystrophy type 1 OMIM:600624|MESH:C563469|UMLS:C1833564|Orphanet:1872|DOID:0111009|GARD:0010651 https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1 owl:Class MONDO:0020647 biolink:NamedThing microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome tmpte7i6ely_mondo_relaxed.owl microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome|MFRG OMIM:618142 owl:Class MONDO:0012370 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 51 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 51|deafness, autosomal recessive 51|autosomal recessive nonsyndromic deafness 51|autosomal recessive deafness 51|DFNB51 OMIM:609941|MESH:C538202|DOID:0110508|GARD:0009918|ICD10:H90.3 owl:Class MONDO:0003010 biolink:NamedThing multilocular clear cell renal cell carcinoma A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. tmpte7i6ely_mondo_relaxed.owl multilocular clear cell carcinoma|multilocular cystic renal cell cancer|MCRCC|renal cystadenocarcinoma|multilocular clear cell renal cell carcinoma|multilocular cystic clear cell renal cell neoplasm of low malignant potential|multilocular clear cell renal cell adenocarcinoma|multilocular cystic renal cell carcinoma|multilocular cystic renal neoplasm of low malignant potential|cystadenocarcinoma of kidney|multilocular cystic renal cell adenocarcinoma|multilocular clear cell adenocarcinoma NCIT:C4524|Orphanet:319287|ICD9:189.0|DOID:4463|SCTID:254916002|ICDO:8316/3|ICD10:C64|UMLS:C0346249 owl:Class HGNC:4964 biolink:NamedThing HLA-G tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0043330 biolink:NamedThing Mirizzi syndrome Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. tmpte7i6ely_mondo_relaxed.owl Mirizzi's syndrome|hepatic duct dystonia syndrome|Mirizzi syndrome|syndrome, Mirizzi's|syndrome, Mirizzi|mirizzi's syndrome|Mirizzis syndrome GARD:0010177|UMLS:C0267878|EFO:1001860|MESH:D057792|Orphanet:521219|SCTID:4283007 owl:Class HGNC:8819 biolink:NamedThing PDXK tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008826 biolink:NamedThing arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. tmpte7i6ely_mondo_relaxed.owl Johnston Aarons Schelley syndrome|arthrogryposis with hyperkeratosis|Johnston-Aarons-Schelley syndrome|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns UMLS:C1859710|GARD:0003053|MESH:C535883|SCTID:726620005|Orphanet:1485|OMIM:208158 owl:Class MONDO:0011167 biolink:NamedThing type 1 diabetes mellitus 6 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21. tmpte7i6ely_mondo_relaxed.owl insulin-dependent diabetes mellitus 6|diabetes mellitus, insulin-dependent, 6|autoimmune thyroid disease, susceptibility to, 5|IDDM6 OMIM:601941|ICD10:E10|DOID:0110745|MESH:C566603|UMLS:C1866041 owl:Class MONDO:0016618 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies tmpte7i6ely_mondo_relaxed.owl polyarthritis without rheumatoid factor without anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies|rheumatoid factor-negative JIA without anti-nuclear antibodies ICD10:M08.3|Orphanet:247861 owl:Class MONDO:0017601 biolink:NamedThing diffuse large B-cell lymphoma with chronic inflammation Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. tmpte7i6ely_mondo_relaxed.owl DLBCL with chronic inflammation Orphanet:300888|ICD10:C83.3 owl:Class MONDO:0002821 biolink:NamedThing trabecular follicular adenocarcinoma tmpte7i6ely_mondo_relaxed.owl follicular adenocarcinoma, trabecular (morphologic abnormality)|follicular adenocarcinoma, trabecular|trabecular follicular carcinoma DOID:3964|UMLS:C0334327 owl:Class MONDO:0100076 biolink:NamedThing juvenile idiopathic scoliosis A scoliosis with no known cause arising in a juvenile. tmpte7i6ely_mondo_relaxed.owl Orphanet:459696 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014348 biolink:NamedThing intellectual disability, autosomal recessive 42 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene. tmpte7i6ely_mondo_relaxed.owl mental retardation, autosomal recessive type 42|mental retardation, autosomal recessive 42|MRT42|intellectual disability, autosomal recessive 42|PGAP1 autosomal recessive non-syndromic intellectual disability|glycosylphosphatidylinositol biosynthesis defect 9|intellectual disability, autosomal recessive type 42|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1 UMLS:C4014343|OMIM:615802 owl:Class MONDO:0011635 biolink:NamedThing goiter, multinodular 3 tmpte7i6ely_mondo_relaxed.owl goiter, multinodular 3|MNG3 OMIM:606082|UMLS:C1853686|MESH:C565260 owl:Class MONDO:0003474 biolink:NamedThing tanycytic ependymoma A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.) tmpte7i6ely_mondo_relaxed.owl tanycytic ependymoma NCIT:C6903|DOID:5504|UMLS:C1370500 owl:Class MONDO:0033545 biolink:NamedThing mitochondrial DNA depletion syndrome 19 tmpte7i6ely_mondo_relaxed.owl MTDPS19|MITOCHONDRIAL DNA DEPLETION SYNDROME 19 OMIM:618972 owl:Class MONDO:0010930 biolink:NamedThing anophthalmia plus syndrome Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder|Fryns anophthalmia syndrome|anophthalmia-plus syndrome|microphthalmia with facial clefting|Fryns microphthalmia syndrome|Leichtman Wood Rohn syndrome SCTID:720496006|ICD10:Q87.8|OMIM:600776|MESH:C537767|Orphanet:1104|UMLS:C1833339|GARD:0000719 https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome owl:Class CHEBI:50817 biolink:NamedThing iron oxide mineral tmpte7i6ely_mondo_relaxed.owl iron oxide minerals owl:Class MONDO:0008109 biolink:NamedThing ocular cicatricial pemphigoid Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. tmpte7i6ely_mondo_relaxed.owl ocular cicatricial pemphigoid|OCP|cicatricial pemphigoid, ocular|pemphigoid, ocular cicatricial UMLS:C1282359|SCTID:314757003|Orphanet:46486|OMIM:164185|EFO:0008610|GARD:0008759|NCIT:C84939 https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid owl:Class MONDO:0100075 biolink:NamedThing jaw fracture A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken. tmpte7i6ely_mondo_relaxed.owl lower jaw fracture|upper jaw fracture 2019-02-06 06:57:26+00:00 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020482 biolink:NamedThing myotonia permanens Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). tmpte7i6ely_mondo_relaxed.owl Orphanet:99735|SCTID:715789009|ICD10:G71.1|OMIM:608390|UMLS:CN207354 owl:Class MONDO:0010061 biolink:NamedThing autosomal recessive cerebellar ataxia-blindness-deafness syndrome tmpte7i6ely_mondo_relaxed.owl SCAR3|spinocerebellar ataxia autosomal recessive 3|autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|spinocerebellar ataxia, autosomal recessive 3|autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|autosomal recessive spinocerebellar ataxia type 3|autosomal recessive cerebellar ataxia - blindness - deafness|spinocerebellar ataxia with blindness and deafness|SCABD MESH:C537309|DOID:0111612|Orphanet:95433|GARD:0009971|UMLS:C1849094|ICD10:G11.1|OMIM:271250 owl:Class MONDO:0017568 biolink:NamedThing Prata-Liberal-Goncalves syndrome Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. tmpte7i6ely_mondo_relaxed.owl brachydactyly-scoliosis-carpal fusion syndrome|acrodysplasia scoliosis UMLS:CN203304|Orphanet:2956|GARD:0000491|ICD10:Q87.8|UMLS:C2931761 owl:Class MONDO:0013703 biolink:NamedThing intellectual disability, autosomal recessive 33 tmpte7i6ely_mondo_relaxed.owl MRT33|intellectual disability, autosomal recessive 33|mental retardation, autosomal recessive 33 UMLS:C3280539|Orphanet:88616|OMIM:614341 owl:Class MONDO:0020368 biolink:NamedThing Axenfeld anomaly Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies. tmpte7i6ely_mondo_relaxed.owl ICD10:Q15.0|OMIM:602482|OMIM:601631|SCTID:204152008|Orphanet:98978|MedDRA:10058653|ICD9:743.44 owl:Class HGNC:33067 biolink:NamedThing SNORD116-1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000673 biolink:NamedThing integrative agnosia Agnosia characterized by the inability to integrate perceptual wholes within knowledge. tmpte7i6ely_mondo_relaxed.owl DOID:0060143 owl:Class MONDO:0013322 biolink:NamedThing epilepsy, familial adult myoclonic, 3 tmpte7i6ely_mondo_relaxed.owl cortical myoclonic tremor with epilepsy, familial, 3|FAME3|epilepsy, familial ADULT myoclonic, 3 DOID:0111695|UMLS:C3150860|MESH:C567098|OMIM:613608|Orphanet:86814 owl:Class MONDO:0032872 biolink:NamedThing ciliary dyskinesia, primary, 42 tmpte7i6ely_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 42|CILD42|Ciliary Dyskinesia, Primary, 42, Without Situs Inversus OMIM:618695 owl:Class MONDO:0011983 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl AITD4|autoimmune thyroid disease, susceptibility to, type 4|autoimmune thyroid disease, susceptibility to, 4 OMIM:608176|UMLS:C1842443 owl:Class MONDO:0008448 biolink:NamedThing spheroid body myopathy Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spheroid body myopathy|myopathy, spheroid body OMIM:182920|UMLS:C1866785|DOID:0080091|GARD:0008711|Orphanet:268129|MESH:C000598645|ICD10:G71.8|SCTID:765092004 https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy owl:Class MONDO:0029143 biolink:NamedThing intellectual developmental disorder with hypertelorism and distinctive facies tmpte7i6ely_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES|chromosome 14q32 deletion syndrome|IDDHDF OMIM:618147 owl:Class HGNC:10989 biolink:NamedThing SLC25A3 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1440 biolink:NamedThing CALCR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016774 biolink:NamedThing lichen planus pigmentosus Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. tmpte7i6ely_mondo_relaxed.owl lichen planus pigmentosus inversus|lichen planus pigmentosa|LP pigmentosus|LP pigmentosa UMLS:C0406366|SCTID:717061002|GARD:0010816|Orphanet:254463|ICD10:L43.8 https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus owl:Class MONDO:0022456 biolink:NamedThing ankle defects short stature tmpte7i6ely_mondo_relaxed.owl GARD:0000694 https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature owl:Class MONDO:0030258 biolink:NamedThing pontocerebellar hypoplasia, type 14 tmpte7i6ely_mondo_relaxed.owl pontocerebellar hypoplasia, type 14|PCH14 OMIM:619301 owl:Class MONDO:0019527 biolink:NamedThing undifferentiated connective tissue syndrome An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. tmpte7i6ely_mondo_relaxed.owl undifferentiated connective tissue disease|UCTD SCTID:239918008|ICD10:M35.8|Orphanet:90002|UMLS:C0409999|NCIT:C116776|MedDRA:10071575 owl:Class MONDO:0100439 biolink:NamedThing glycogen storage disease IXa2 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes. tmpte7i6ely_mondo_relaxed.owl liver glycogenosis, X-linked, type 2|GSD9A2|GSD IXa2 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2128 owl:Class MONDO:0015471 biolink:NamedThing benign focal seizures of adolescence tmpte7i6ely_mondo_relaxed.owl adolescent benign focal crisis UMLS:C4275141|Orphanet:1544|SCTID:715425000|ICD10:G40.8 owl:Class MONDO:0011148 biolink:NamedThing Spondylospinal thoracic dysostosis Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life. tmpte7i6ely_mondo_relaxed.owl spondylospinal thoracic dysostosis OMIM:601809|MESH:C566622|UMLS:C1866184|GARD:0010571 https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis owl:Class MONDO:0008598 biolink:NamedThing trichodysplasia-xeroderma syndrome Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. tmpte7i6ely_mondo_relaxed.owl trichodysplasia xeroderma|trichodysplasia-xeroderma UMLS:C1860822|OMIM:190360|GARD:0005261|Orphanet:3361|MESH:C566032 owl:Class MONDO:0021576 biolink:NamedThing fallopian tube endometrioid tumor A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpte7i6ely_mondo_relaxed.owl endometrium neoplasm of fallopian tube|fallopian tube endometrium neoplasm|fallopian tube endometrioid tumor|fallopian tube endometrioid neoplasm UMLS:C1517113|NCIT:C40111 owl:Class MONDO:0024521 biolink:NamedThing aortic aneurysm, familial abdominal, 1 tmpte7i6ely_mondo_relaxed.owl AAA1|aneurysm, abdominal aortic|abdominal aortic aneurysm|aortic aneurysm, familial abdominal, 1 UMLS:C0162871|OMIM:100070|Orphanet:86 owl:Class MONDO:0029141 biolink:NamedThing Usher syndrome, type 4 tmpte7i6ely_mondo_relaxed.owl USH4|Usher syndrome, type IV OMIM:618144 owl:Class NCBITaxon:2743694 biolink:NamedThing Cyprininae tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009900 biolink:NamedThing polysyndactyly-cardiac malformation syndrome Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). tmpte7i6ely_mondo_relaxed.owl Bonneau syndrome|polysyndactyly with CARDIAC malformation|polysyndactyly cardiac malformation UMLS:C1849719|OMIM:263630|SCTID:724066002|ICD10:Q87.8|MESH:C564875|Orphanet:2934|GARD:0004428 owl:Class MONDO:0016605 biolink:NamedThing perinatal lethal hypophosphatasia A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. tmpte7i6ely_mondo_relaxed.owl perinatal lethal phosphoethanolaminuria|perinatal lethal Rathburn disease UMLS:C2673477|Orphanet:247623|OMIM:241500|ICD10:E83.3 owl:Class MONDO:0007207 biolink:NamedThing Böök syndrome Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. tmpte7i6ely_mondo_relaxed.owl PHC syndrome|premolar aplasia, hyperhidrosis, and canities prematura|Böök syndrome|book syndrome UMLS:C0457014|MESH:C562993|Orphanet:1262|ICD10:Q82.4|SCTID:722296002|OMIM:112300|GARD:0000932 owl:Class MONDO:0009357 biolink:NamedThing humeroradial synostosis with craniofacial anomalies tmpte7i6ely_mondo_relaxed.owl humeroradial synostosis with craniofacial anomalies MESH:C566888|OMIM:236410|UMLS:C1968717 owl:Class MONDO:0030911 biolink:NamedThing intellectual disability, autosomal dominant 46 tmpte7i6ely_mondo_relaxed.owl autosomal dominant mental retardation 46|intellectual disability, autosomal dominant 46|MRD46|autosomal dominant intellectual disability 46|mental retardation, autosomal dominant 46 OMIM:617601|UMLS:CN371052|DOID:0080237 owl:Class MONDO:0022578 biolink:NamedThing childhood bladder carcinoma A rare carcinoma of the bladder that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl bladder cancer|bladder cancer, childhood|childhood bladder cancer|bladder cancer childhood|childhood bladder carcinoma|bladder carcinoma, childhood UMLS:C3899675|GARD:0009305|NCIT:C118816 https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood owl:Class HP:0000360 biolink:NamedThing Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. tmpte7i6ely_mondo_relaxed.owl Ringing in ears|Ringing in the ears MSH:D014012|SNOMEDCT_US:162352007|UMLS:C0040264|SNOMEDCT_US:162349004|SNOMEDCT_US:60862001 human_phenotype owl:Class MONDO:0030974 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 4 tmpte7i6ely_mondo_relaxed.owl mitochondrial complex 2 deficiency, nuclear type 4|MC2DN4 OMIM:619224 owl:Class MONDO:0015050 biolink:NamedThing esophageal duplication cyst Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported. tmpte7i6ely_mondo_relaxed.owl Orphanet:100047|SCTID:721161005|ICD10:Q39.8 owl:Class MONDO:0016528 biolink:NamedThing limb body wall complex Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. tmpte7i6ely_mondo_relaxed.owl aplasia of the cord|umbilical cord, short|body stalk anomaly|limb-body wall complex|LBWC syndrome|Cyllosomas|short umbilical cord syndrome GARD:0003251|UMLS:C4274839|ICD10:Q87.8|UMLS:CN201594|Orphanet:2369|SCTID:716106000 https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex owl:Class MONDO:0009403 biolink:NamedThing hypertelorism and tetralogy of fallot tmpte7i6ely_mondo_relaxed.owl hypertelorism and tetralogy of fallot GARD:0002848|UMLS:C1855903|MESH:C538386|OMIM:239711 https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot owl:Class MONDO:0015377 biolink:NamedThing third branchial cleft anomaly tmpte7i6ely_mondo_relaxed.owl third branchial cleft cyst|third branchial cleft fistula SCTID:73391000119102|Orphanet:141030|ICD10:Q18.0 owl:Class MONDO:0023111 biolink:NamedThing familial capillaro-venous leptomeningeal angiomatosis tmpte7i6ely_mondo_relaxed.owl UMLS:C2931262|GARD:0009423|MESH:C536609 https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis owl:Class MONDO:0012036 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 4 tmpte7i6ely_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 4|SLEB4 OMIM:608437 owl:Class MONDO:0003673 biolink:NamedThing apical myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. tmpte7i6ely_mondo_relaxed.owl DOID:5848|NCIT:C36073 owl:Class MONDO:0001430 biolink:NamedThing deep corneal vascularisation tmpte7i6ely_mondo_relaxed.owl deep vascularization of cornea UMLS:C0155095|SCTID:2102007|ICD9:370.63|ICD10:H16.44|DOID:12087 owl:Class MONDO:0004408 biolink:NamedThing schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume. tmpte7i6ely_mondo_relaxed.owl composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor UMLS:C1516760|NCIT:C42059|DOID:7951 owl:Class HGNC:10808 biolink:NamedThing SGCE tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0015095 biolink:NamedThing Peters anomaly-cataract syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:101033|UMLS:C2931652|ICD10:Q13.3|MESH:C537885 owl:Class MONDO:0019899 biolink:NamedThing distal monosomy 20q tmpte7i6ely_mondo_relaxed.owl telomeric deletion 20q|monosomy 20qter|distal monosomy type 20q|distal deletion 20q ICD10:Q93.5|Orphanet:96152 owl:Class MONDO:0004254 biolink:NamedThing focal intraductal papillomatosis tmpte7i6ely_mondo_relaxed.owl focal intraductal papillomatosis|localized intraductal papillomatosis NCIT:C7365|DOID:7512|UMLS:C1333626 owl:Class MONDO:0005582 biolink:NamedThing binge eating disorder Recurrent episodes of over-eating. tmpte7i6ely_mondo_relaxed.owl binge eating disorder|binge eating EFO:0005924|SCTID:439960005|MESH:D002032|NCIT:C97162 owl:Class MONDO:0100387 biolink:NamedThing acute myeloid leukemia, Monosomy 7 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.) tmpte7i6ely_mondo_relaxed.owl AML, Monosomy 7 NCIT:C36411 term to be merged with: MONDO:0005223 'acute myeloid leukemia with minimal differentiation' https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0006610 biolink:NamedThing skin atrophy The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. tmpte7i6ely_mondo_relaxed.owl atrophic condition of skin|atrophoderma|atrophy of skin|atrophy - skin|atrophic skin UMLS:C0151514|SCTID:400190005|ICD9:701.8|Wikipedia:Steroid_atrophy|ICD10:L90.9|EFO:1000766|NCIT:C35163|ICD10:L90|DOID:2733 owl:Class MONDO:0032760 biolink:NamedThing developmental delay with or without dysmorphic facies and autism tmpte7i6ely_mondo_relaxed.owl DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM|DEDDFA OMIM:618454 owl:Class MONDO:0012086 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 31 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3. tmpte7i6ely_mondo_relaxed.owl deafness, autosomal dominant 31|autosomal dominant nonsyndromic deafness 31|autosomal dominant nonsyndromic deafness type 31|autosomal dominant deafness 31|DFNA31 DOID:0110561|OMIM:608645|UMLS:C1837617|MESH:C563888|ICD10:H90.3 owl:Class MONDO:0030329 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 5 tmpte7i6ely_mondo_relaxed.owl MMIHS5|megacystis-microcolon-intestinal hypoperistalsis syndrome 5 OMIM:619431 owl:Class IAO:8000016 biolink:NamedThing taxonomic bridge ontology module tmpte7i6ely_mondo_relaxed.owl taxonomic bridge ontology module owl:Class MONDO:0011084 biolink:NamedThing psoriasis 3, susceptibility to tmpte7i6ely_mondo_relaxed.owl PSORS3|psoriasis 3, susceptibility to DOID:0111283|OMIM:601454 owl:Class MONDO:0026404 biolink:NamedThing X inactivation, familial skewed, 1 tmpte7i6ely_mondo_relaxed.owl X inactivation, familial skewed, 1|SXI1|X-inactivation, familial skewed, 1|X INACTIVATION, FAMILIAL SKEWED, 1 OMIM:300087 owl:Class HGNC:23594 biolink:NamedThing VPS13C tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:9081 biolink:NamedThing PLOD1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0006828 biolink:NamedThing nasal cavity and paranasal sinus lethal midline granuloma An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. tmpte7i6ely_mondo_relaxed.owl midfacial Necrotising lesion|malignant granuloma of face|nasal cavity and paranasal sinus lethal Midline granuloma|lethal midline granuloma|Midline lethal granuloma of nasal cavity and paranasal sinus|Midline lethal granuloma of the nasal cavity and paranasal sinus DOID:9072|ICD10:M31.2|MESH:D006103|EFO:1001013|ICD9:446.3|MedDRA:10024255|NCIT:C8196 Editor note: TODO granuloma DP owl:Class MONDO:0015290 biolink:NamedThing neurotrophic keratopathy Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. tmpte7i6ely_mondo_relaxed.owl neurotrophic keratitis ICD10:H16.2|Orphanet:137596|UMLS:C0339296|MedDRA:10069732|SCTID:128080005 owl:Class HGNC:1516 biolink:NamedThing CAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0002960 biolink:NamedThing polyradiculopathy A radiculopathy that is present in more than one nerve. tmpte7i6ely_mondo_relaxed.owl ICD9:356.9|MESH:D011128|SCTID:75572007|DOID:4307|UMLS:C0032586|NCIT:C34934 owl:Class HGNC:794 biolink:NamedThing ATIC tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003076 biolink:NamedThing unilateral retinoblastoma A retinoblastoma that only involves a single eye. tmpte7i6ely_mondo_relaxed.owl UMLS:C0854915|DOID:4651|NCIT:C8714 owl:Class CL:0002059 biolink:NamedThing CD8alpha-positive thymic conventional dendritic cell A conventional thymic dendritic cell that is CD8alpha-positive. tmpte7i6ely_mondo_relaxed.owl CD8alpha-alpha-positive thymic conventional dendritic cell|DC.8+.Th tmeehan 2010-06-07T02:48:36Z cell owl:Class HGNC:19899 biolink:NamedThing ZFAT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0021929 biolink:NamedThing traumatic myositis ossificans Myositis Ossificans resulting from trauma. tmpte7i6ely_mondo_relaxed.owl myositis ossificans traumatica|myositis ossificans circumscripta|Traumatic myositis ossificans|Myositis ossificans traumatica|Myositis ossificans circumscripta|Traumatic Myositis Ossificans|traumatic myositis ossificans UMLS:C0040798|NCIT:C35081|ICD9:728.12|SCTID:70917000 owl:Class MONDO:0008770 biolink:NamedThing amelogenesis imperfecta type 1C tmpte7i6ely_mondo_relaxed.owl amelogenesis imperfecta type IC|amelogenesis imperfecta, type 1C|autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|amelogenesis imperfecta, type IC|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|AI1C UMLS:C2673923|MESH:C567147|DOID:0110056|OMIM:204650|ICD10:K00.5|Orphanet:100031 owl:Class MONDO:0012416 biolink:NamedThing Devriendt syndrome tmpte7i6ely_mondo_relaxed.owl severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism|Devriendt syndrome GARD:0010052|UMLS:C1857830|OMIM:610136|MESH:C535947 https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome owl:Class MONDO:0020495 biolink:NamedThing peho-like syndrome PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. tmpte7i6ely_mondo_relaxed.owl progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome|peho-like syndrome|PEHOL OMIM:617507|Orphanet:99807|OMIM:260565 owl:Class HGNC:17318 biolink:NamedThing RXFP2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0000684 biolink:NamedThing verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. tmpte7i6ely_mondo_relaxed.owl DOID:0060154 owl:Class MONDO:0012950 biolink:NamedThing aneurysm, intracranial berry, 10 tmpte7i6ely_mondo_relaxed.owl ANIB10|aneurysm, intracranial BERRY, 10 MESH:C567237|OMIM:612587|UMLS:C2675484 owl:Class NCBITaxon:11909 biolink:NamedThing Human T-lymphotropic virus 2 tmpte7i6ely_mondo_relaxed.owl Human T-lymphotropic virus Type II|Human T-cell lymphotropic virus type 2|human T lymphotropic virus type II HTLV-II|Human T-cell lymphotropic virus type II|human T-cell lymphotropic virus type II HTLV-II|human T cell leukemia virus II HTLV-II|HTLV-II|Human T-Cell leukemia virus type 2|Human T-cell leukemia virus type II|Human lymphotropic virus type 2|human T-cell leukemia virus II|Human lymphotropic virus type II|HTLV-2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010065 biolink:NamedThing spinocerebellar degeneration with slow eye movements tmpte7i6ely_mondo_relaxed.owl spinocerebellar degeneration with slow eye movements|SDSEM UMLS:C0752121|OMIM:271322 Editor note: check this owl:Class MONDO:0001364 biolink:NamedThing regular astigmatism tmpte7i6ely_mondo_relaxed.owl DOID:11781|UMLS:C0152193|ICD10:H52.22|SCTID:68905002|ICD9:367.21 owl:Class MONDO:0014008 biolink:NamedThing phosphohydroxylysinuria tmpte7i6ely_mondo_relaxed.owl Phosphohydroxylysinuria|PHLU|phosphohydroxylysinuria|PHOSPHOHYDROXYLYSINURIA UMLS:C3554344|OMIM:615011 owl:Class MONDO:0007393 biolink:NamedThing cranioacrofacial syndrome tmpte7i6ely_mondo_relaxed.owl Cranioacrofacial syndrome MESH:C565147|OMIM:122850|UMLS:C1852512|Orphanet:1339 owl:Class MONDO:0015241 biolink:NamedThing arthrogryposis-like syndrome Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. tmpte7i6ely_mondo_relaxed.owl Kuskokwim syndrome|Kuskokwim disease|arthrogryposis like disorder ICD9:719.89|Orphanet:1149|SCTID:702447002|GARD:0003150|GARD:0000783 https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder owl:Class MONDO:0015039 biolink:NamedThing lissencephaly with cerebellar hypoplasia type F Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. tmpte7i6ely_mondo_relaxed.owl UMLS:CN228905|ICD10:Q04.3|SCTID:715822007|Orphanet:100016|UMLS:C4274989 owl:Class MONDO:0001141 biolink:NamedThing middle ear cholesterol granuloma As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. tmpte7i6ely_mondo_relaxed.owl cholesterin granuloma|cholesterin granuloma of middle ear ICD9:385.82|UMLS:C0155492|SCTID:28371001|NCIT:C3655|DOID:10852 owl:Class MONDO:0020725 biolink:NamedThing anemia due to chronic disorder Anemia due to a disorder that is persistent or long-standing in nature. tmpte7i6ely_mondo_relaxed.owl anemia of chronic inflammation|Secondary anemia|anemia of chronic disease|anemia of systemic disease|anemia due to chronic disorder|anemia of chronic illness|anemia of chronic disorder|anemia due to Chronic Disorder ICD9:285.29|NCIT:C35659|UMLS:C0002873|SCTID:234347009 owl:Class MONDO:0004135 biolink:NamedThing subacute lymphocytic thyroiditis Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. tmpte7i6ely_mondo_relaxed.owl Subacute painless thyroiditis|silent thyroiditis|Subacute lymphocytic thyroiditis SCTID:361126006|NCIT:C35829|DOID:7187|UMLS:C0271814|UMLS:C1306804 owl:Class MONDO:0013571 biolink:NamedThing acatalasia A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. tmpte7i6ely_mondo_relaxed.owl deficiency of catalase|acatalasemia|catalase deficiency|acatalasia Orphanet:926|ICD9:277.6|HGNC:1516|MESH:D020642|DOID:2582|EFO:0004144|NCIT:C84526|SCTID:124202004|GARD:0000363|OMIM:614097|ICD10:E80.3|UMLS:C0268419 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0019158 biolink:NamedThing tropical endomyocardial fibrosis Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. tmpte7i6ely_mondo_relaxed.owl TEMF|Davies disease UMLS:C2882252|UMLS:CN205710|Orphanet:75565|SCTID:715626008|ICD10:I42.3 owl:Class MONDO:0030894 biolink:NamedThing AMED syndrome, digenic tmpte7i6ely_mondo_relaxed.owl AMEDS|bone marrow failure syndrome 7, digenic|AMED syndrome, digenic OMIM:619151 owl:Class MONDO:0010846 biolink:NamedThing exostoses, multiple, type III tmpte7i6ely_mondo_relaxed.owl exostoses, multiple, type 3|exostoses, multiple, type III|EXT3 GARD:0002206|UMLS:C1838420|MESH:C563975|Orphanet:321|OMIM:600209 owl:Class MONDO:0008883 biolink:NamedThing brachydactyly, type A2, with microcephaly tmpte7i6ely_mondo_relaxed.owl brachydactyly, type A2, with microcephaly OMIM:211369|UMLS:C1859393|MESH:C565894 owl:Class MONDO:0043343 biolink:NamedThing Chilaiditi syndrome Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition. tmpte7i6ely_mondo_relaxed.owl chilaiditi's syndrome|Chilaiditi's anomaly|Chilaiditis anomaly|Chilaiditi's syndrome|syndrome, Chilaiditi|hepatodiaphragmatic colonic interposition|subphrenic interposition syndrome|Chilaiditi anomaly|Chilaiditis syndrome|anomaly, Chilaiditi|anomaly, Chilaiditi's|syndrome, Chilaiditi's GARD:0010685|SCTID:14911005|MESH:D059269 owl:Class MONDO:0032642 biolink:NamedThing arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development tmpte7i6ely_mondo_relaxed.owl ACCIID|ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:618265|Orphanet:565858 owl:Class MONDO:0017989 biolink:NamedThing His bundle tachycardia His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. tmpte7i6ely_mondo_relaxed.owl junctional ectopic tachycardia|JET UMLS:C0039235|ICD9:427.89|MESH:D013613|Orphanet:3283|GARD:0002706|ICD10:I47.1|SCTID:233901002|NCIT:C111646 https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia owl:Class MONDO:0007175 biolink:NamedThing PR interval, variation 1N tmpte7i6ely_mondo_relaxed.owl PR interval, variation IN|Atrioventricular conduction time, variation 1N|PR interval, variation type 1N UMLS:C3152251|OMIM:108980 owl:Class MONDO:0033008 biolink:NamedThing Galloway-Mowat syndrome 4 tmpte7i6ely_mondo_relaxed.owl Galloway-Mowat syndrome 4|GAMOS4 Orphanet:2065|UMLS:CN570506|OMIM:617730|DOID:0080246 owl:Class MONDO:0011005 biolink:NamedThing trisomy 18-like syndrome tmpte7i6ely_mondo_relaxed.owl trisomy 18-like syndrome MESH:C563382|OMIM:601161|UMLS:C1832677 owl:Class MONDO:0019871 biolink:NamedThing distal trisomy 2p Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. tmpte7i6ely_mondo_relaxed.owl distal duplication 2p|distal trisomy type 2p|telomeric duplication 2p|trisomy 2pter Orphanet:96070|ICD10:Q92.3|SCTID:764518004 owl:Class MONDO:0009600 biolink:NamedThing metaphyseal dysplasia, anetoderma, and optic atrophy tmpte7i6ely_mondo_relaxed.owl metaphyseal dysplasia, anetoderma, and optic atrophy OMIM:250450|UMLS:C1855174|MESH:C565395 owl:Class MONDO:0019397 biolink:NamedThing unknown leukodystrophy tmpte7i6ely_mondo_relaxed.owl ICD10:E75.2|Orphanet:84096 owl:Class MONDO:0006920 biolink:NamedThing prediabetes syndrome A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. tmpte7i6ely_mondo_relaxed.owl prediabetes|borderline diabetes|prediabetic state ICD10:R73.09|UMLS:C0362046|DOID:11716|MESH:D011236|EFO:1001121|NCIT:C122685|MedDRA:10065542 owl:Class MONDO:0017472 biolink:NamedThing patella aplasia/hypoplasia, unilateral tmpte7i6ely_mondo_relaxed.owl Orphanet:295038|ICD10:Q74.1 owl:Class MONDO:0008014 biolink:NamedThing nondisjunction tmpte7i6ely_mondo_relaxed.owl mosaicism, chromosomal|mixoploidy, familial|nondisjunction OMIM:158250|UMLS:C1834741 owl:Class MONDO:0007782 biolink:NamedThing hyperthermia, cutaneous, with headaches and nausea tmpte7i6ely_mondo_relaxed.owl farmer syndrome|hyperthermia, cutaneous, with headaches and nausea UMLS:C1840373|MESH:C564156|OMIM:145590 owl:Class MONDO:0019653 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with minimal changes tmpte7i6ely_mondo_relaxed.owl ICD10:N04.0|UMLS:CN206526|Orphanet:93216 owl:Class NCBITaxon:2726946 biolink:NamedThing Cladosporiales tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0060670 biolink:NamedThing amyotrophic lateral sclerosis, susceptibility to, 25 tmpte7i6ely_mondo_relaxed.owl amyotrophic lateral sclerosis, susceptibility to, 25|ALS25 OMIM:617921|UMLS:CN895594 owl:Class MONDO:0000859 biolink:NamedThing spina bifida occulta The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. tmpte7i6ely_mondo_relaxed.owl spina bifida occulta (disease)|spina bifida occulta spina bifida occulta (disease) NCIT:C101044|ICD9:756.17|SCTID:76916001|HP:0003298|DOID:0080073|MESH:D016136 owl:Class CHEBI:48219 biolink:NamedThing disinfectant An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity. tmpte7i6ely_mondo_relaxed.owl Desinfektionsmittel|desinfectant|disinfecting agent|disinfectants owl:Class MONDO:0019093 biolink:NamedThing immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). tmpte7i6ely_mondo_relaxed.owl specific antibody deficiency ICD10:D80.8|SCTID:234556002|UMLS:C0398711|Orphanet:70593|GARD:0011903 owl:Class MONDO:0001579 biolink:NamedThing corneal staphyloma tmpte7i6ely_mondo_relaxed.owl DOID:12753|ICD10:H18.72|UMLS:C0152440|SCTID:52476003|ICD9:371.73 owl:Class MONDO:0022875 biolink:NamedThing cortada Koussef Matsumoto syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001546 https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome owl:Class MONDO:0001851 biolink:NamedThing primary lacrimal atrophy tmpte7i6ely_mondo_relaxed.owl UMLS:C0155229|ICD9:375.13|DOID:1399|SCTID:17093002 owl:Class MONDO:0021334 biolink:NamedThing immunoproliferative disorder Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. tmpte7i6ely_mondo_relaxed.owl Immunoproliferative Disorder|Disorders, Immunoproliferative|Immunoproliferative disease|immunoproliferative disorder|Immunoproliferative disorder|Disorder, Immunoproliferative|Immunoproliferative Disorders ICD9:203.80|SCTID:127071007|UMLS:C0021070|MESH:D007160 owl:Class MONDO:0005589 biolink:NamedThing thiopurine immunosuppressant-induced pancreatitis Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine. tmpte7i6ely_mondo_relaxed.owl EFO:0006315 owl:Class MONDO:0002511 biolink:NamedThing stenosis of lacrimal sac tmpte7i6ely_mondo_relaxed.owl ICD10:H04.579|ICD9:375.54|SCTID:11772001|ICD10:H04.57|DOID:3096 owl:Class PATO:0002103 biolink:NamedThing infiltrative A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area. tmpte7i6ely_mondo_relaxed.owl infiltrating owl:Class MONDO:0015793 biolink:NamedThing moderate multiminicore disease with hand involvement tmpte7i6ely_mondo_relaxed.owl OMIM:117000|ICD10:G71.2|Orphanet:178145|UMLS:C1861753 owl:Class MONDO:0018023 biolink:NamedThing hemoglobin M disease tmpte7i6ely_mondo_relaxed.owl M hemoglobinopathy|hereditary methemoglobinemia due to hemoglobin mutation|methemoglobinemia, beta-globin type|blue baby syndrome|autosomal dominant methemoglobinemia ICD10:D74.0|GARD:0013007|MESH:C581942|UMLS:CN204238|OMIM:617971|Orphanet:330041|UMLS:C3665425|SCTID:74912001 owl:Class MONDO:0023005 biolink:NamedThing double uterus-hemivagina-renal agenesis tmpte7i6ely_mondo_relaxed.owl GARD:0001910 https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis owl:Class MONDO:0008968 biolink:NamedThing cholestasis with gallstone, ataxia, and visual disturbance tmpte7i6ely_mondo_relaxed.owl cholestasis with gallstone, ataxia, and visual disturbance MESH:C565856|UMLS:C1859161|OMIM:214980 owl:Class MONDO:0013285 biolink:NamedThing immunodeficiency, common variable, 5 Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. tmpte7i6ely_mondo_relaxed.owl immunodeficiency, common variable, 5|common variable immunodeficiency caused by mutation in MS4A1|CVID5|antibody deficiency due to CD20 defect|immunodeficiency, common variable, type 5|MS4A1 common variable immunodeficiency Orphanet:1572|UMLS:C3150740|OMIM:613495 owl:Class HP:0200042 biolink:NamedThing Skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. tmpte7i6ely_mondo_relaxed.owl Open skin sore MSH:D012883|SNOMEDCT_US:46742003|MEDDRA:10040943|UMLS:C0037299 sebastiankohler 2010-06-18T02:17:00Z human_phenotype owl:Class MONDO:0005224 biolink:NamedThing acute myeloblastic leukemia without maturation An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl acute myelogenous leukemia without maturation|acute myeloblastic leukemia M1|acute myeloid leukemia without maturation|M1 acute myelogenous leukemia|AML without maturation|AML M1|M1 acute granulocytic leukemia|M1 acute myelocytic leukemia|M1 acute myeloid leukemia|M1 acute myelogenous leukemia without maturation|acute granulocytic leukemia without maturation|M1 acute myeloblastic leukemia|acute myelocytic leukemia without maturation|M1 acute myelocytic leukemia without maturation|AWM|M1 acute granulocytic leukemia without maturation|acute M1 myeloid leukemia|M1 acute myeloid leukemia without maturation|acute myeloid leukemia without maturation (FAB M1)|FAB M1|M1 acute myeloblastic leukemia without maturation|acute myeloblastic leukemia type 1 ICD10:C92.0|EFO:0003027|GARD:0000526|ICDO:9873/3|NCIT:C3249|Orphanet:98833|SCTID:359640008|ONCOTREE:AWM https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation owl:Class MONDO:0005734 biolink:NamedThing dourine A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia. tmpte7i6ely_mondo_relaxed.owl EFO:0007240|SCTID:15566009|MESH:D004313|UMLS:C0013076 owl:Class HGNC:9303 biolink:NamedThing PPP2R1B tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0032869 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 tmpte7i6ely_mondo_relaxed.owl MC5DN6|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 OMIM:618683|DOID:0111749 owl:Class HGNC:3258 biolink:NamedThing EIF2B2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009935 biolink:NamedThing pulmonary hypertension, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl pulmonary hypertension, primary, autosomal recessive MESH:C564862|OMIM:265400|UMLS:C1849552|Orphanet:422 owl:Class HGNC:5012 biolink:NamedThing HMMR tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007547 biolink:NamedThing epidermoid cysts The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. tmpte7i6ely_mondo_relaxed.owl epidermoid cyst|epidermal inclusion cyst|horn cyst|keratinizing cyst|epidermoid cysts|Follicular infundibular cyst|infundibular cyst|Epidermal cyst|keratinous cyst|inclusion cyst|keratin cyst|squamous cyst|epithelial cyst OMIM:131600|SCTID:419893006|EFO:1000243|NCIT:C3134 owl:Class FOODON:03414466 biolink:NamedThing tunicate Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001207 biolink:NamedThing neonatal respiratory failure tmpte7i6ely_mondo_relaxed.owl respiratory failure of newborn ICD9:770.84|SCTID:95619009|DOID:11161|UMLS:C0521648|ICD10:P28.5 owl:Class MONDO:0001488 biolink:NamedThing anterior corneal pigmentation tmpte7i6ely_mondo_relaxed.owl anterior corneal pigmentations ICD9:371.11|SCTID:18377001|DOID:12307|ICD10:H18.01|UMLS:C0155104 owl:Class HGNC:12771 biolink:NamedThing CCN6 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001534 biolink:NamedThing ocular hyperemia tmpte7i6ely_mondo_relaxed.owl hyperemia of conjunctiva|hyperemia eye SCTID:359610006|UMLS:C0155169|DOID:1248 owl:Class MONDO:0030316 biolink:NamedThing lymphatic malformation 11 tmpte7i6ely_mondo_relaxed.owl lymphatic malformation 11|LMPHM11 OMIM:619401 owl:Class MONDO:0001671 biolink:NamedThing mucocele of appendix Accumulation of mucus within the appendix. tmpte7i6ely_mondo_relaxed.owl appendiceal mucocele|mucocele of the appendix|Appendicele mucocele SCTID:53773002|UMLS:C0026684|ICD9:543.9|DOID:13248|NCIT:C3241 owl:Class MONDO:0009138 biolink:NamedThing dysosteosclerosis Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. tmpte7i6ely_mondo_relaxed.owl dysosteosclerosis SCTID:254123002|MESH:C562973|ICD10:Q78.8|Orphanet:1782|GARD:0002012|OMIM:224300|UMLS:C0432262|ICD9:756.9 https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis owl:Class MONDO:0030978 biolink:NamedThing endove syndrome, limb-only type tmpte7i6ely_mondo_relaxed.owl Mesomelia of Lower Extremities With Hand and Foot Anomalies|ENDOVESL OMIM:619217 owl:Class MONDO:0012069 biolink:NamedThing keratoconus 3 tmpte7i6ely_mondo_relaxed.owl keratoconus 3|KTCN3 UMLS:C1837809|OMIM:608586|MESH:C563900 owl:Class MONDO:0010074 biolink:NamedThing brachyolmia type 1, toledo type tmpte7i6ely_mondo_relaxed.owl brachyolmia type 1, Toledo type|Sed, chondroitin sulfate type|BCYM1B|spondyloepiphyseal dysplasia tarda, Toledo type|PAPS-chondroitin sulfate sulfotransferase deficiency MESH:C535787|UMLS:C1849048|OMIM:271630|Orphanet:93303 owl:Class MONDO:0032836 biolink:NamedThing weiss-kruszka syndrome tmpte7i6ely_mondo_relaxed.owl WSKA|weiss-kruszka syndrome|WEISS-KRUSZKA SYNDROME OMIM:618619 owl:Class HP:0003077 biolink:NamedThing Hyperlipidemia An elevated lipid concentration in the blood. tmpte7i6ely_mondo_relaxed.owl Elevated lipids in blood SNOMEDCT_US:55822004|MSH:D006949|UMLS:C0020473 Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). HP:0008356|HP:0008159 human_phenotype owl:Class MONDO:0015404 biolink:NamedThing rapidly involuting congenital hemangioma Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. tmpte7i6ely_mondo_relaxed.owl rich UMLS:C1275421|Orphanet:141184|ICD10:D18.0|SCTID:703294004 owl:Class MONDO:0006684 biolink:NamedThing brain edema Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6) tmpte7i6ely_mondo_relaxed.owl intracranial swelling|wet brain EFO:1000845|MedDRA:10006121|MESH:D001929|SCTID:2032001|ICD9:348.5|DOID:4724 owl:Class MONDO:0008726 biolink:NamedThing Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis tmpte7i6ely_mondo_relaxed.owl Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis|ABS1|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis UMLS:C3150099|OMIM:201750|Orphanet:63269 owl:Class MONDO:0032571 biolink:NamedThing spondyloepimetaphyseal dysplasia, Krakow type tmpte7i6ely_mondo_relaxed.owl SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE|SEMDK|Immunoosseous Dysplasia, Krakow Type OMIM:618162 owl:Class MONDO:0006324 biolink:NamedThing normal breast-like subtype of breast carcinoma A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues. tmpte7i6ely_mondo_relaxed.owl normal breast-like subtype of breast carcinoma|normal breast-like subtype of breast cancer NCIT:C53557|EFO:1000402|UMLS:C3642471 owl:Class OIO:Subset biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016666 biolink:NamedThing unexplained long-lasting fever/inflammatory syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:251332|UMLS:CN201905 https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0018476 biolink:NamedThing dystonia-aphonia syndrome tmpte7i6ely_mondo_relaxed.owl ICD10:G24.8|Orphanet:412217|UMLS:CN237465 owl:Class MONDO:0011285 biolink:NamedThing age related macular degeneration 1 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. tmpte7i6ely_mondo_relaxed.owl age related macular degeneration type 1|ARMD1|age related maculopathy 1|macular Degeneration, age-related, type 1|maculopathy, age-related, 1|macular degeneration, age-related, 1 UMLS:C1864205|OMIM:603075|MESH:C566411|DOID:0110014 owl:Class MONDO:0060510 biolink:NamedThing Cohen-Gibson syndrome tmpte7i6ely_mondo_relaxed.owl COGIS|Cohen-Gibson syndrome OMIM:617561|UMLS:C4479654 owl:Class MONDO:0007976 biolink:NamedThing mesomelic dwarfism of hypoplastic tibia and radius type tmpte7i6ely_mondo_relaxed.owl mesomelic dwarfism of hypoplastic tibia and radius type UMLS:C1835010|MESH:C563589|OMIM:156230|GARD:0007313 https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type owl:Class MONDO:0009826 biolink:NamedThing PA polymorphism of alpha-2-globulin tmpte7i6ely_mondo_relaxed.owl PA polymorphism of alpha-2-globulin|Alpha-2-globulin polymorphism Pa OMIM:260100 owl:Class MONDO:0007132 biolink:NamedThing anonychia-ectrodactyly tmpte7i6ely_mondo_relaxed.owl anonychia-ectrodactyly|anonychia ectrodactyly OMIM:106900|UMLS:C1862843|MESH:C566277|GARD:0000708 https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly owl:Class MONDO:0008178 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. tmpte7i6ely_mondo_relaxed.owl IBMPFD1|pagetoid amyotrophic lateral sclerosis|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with Paget disease of bone|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|lower motor neuron degeneration with Paget-like bone disease MESH:C563476|DOID:0111385|Orphanet:52430|OMIM:167320|NCIT:C122663 owl:Class MONDO:0008651 biolink:NamedThing vertebral hypoplasia with lumbar kyphosis tmpte7i6ely_mondo_relaxed.owl vertebral hypoplasia with lumbar kyphosis OMIM:192900|UMLS:C1860463|MESH:C566002 owl:Class HP:0030718 biolink:NamedThing Right atrial enlargement Increase in size of the right atrium. tmpte7i6ely_mondo_relaxed.owl Dilated right atrium|Right atrial dilatation|Enlarged heart right atrium Fyler:1771|UMLS:C0748427|Fyler:2859|SNOMEDCT_US:67751000119106 This feature can be appreciated on chext radiography, MRI, or CT. human_phenotype owl:Class MONDO:0009196 biolink:NamedThing ermine phenotype Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. tmpte7i6ely_mondo_relaxed.owl pigmentary disorder with hearing loss|O'Doherty syndrome|ermine phenotype|black locks, oculocutaneous albinism, and deafness of the sensorineural type|BADS|BADS syndrome|black locks with albinism and deafness syndrome OMIM:227010|SCTID:10170007|MEDGEN:82812|UMLS:C1856899|MESH:C562663|MESH:C535508|ICD9:270.2|UMLS:C0268501|GARD:0000407|Orphanet:999|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype owl:Class MONDO:0011737 biolink:NamedThing parkinson disease 10 tmpte7i6ely_mondo_relaxed.owl PARK10|Parkinson disease, Age at onset of|Parkinson disease 10 OMIM:606852|UMLS:C1847360|Orphanet:2828|MESH:C564653 owl:Class MONDO:0004560 biolink:NamedThing follicular infundibulum tumor tmpte7i6ely_mondo_relaxed.owl basal cell hamartoma with follicular differentiation|tumor of follicular infundibulum|follicular infundibulum neoplasm|tumor of the follicular infundibulum|neoplasm of the follicular infundibulum SCTID:254694002|NCIT:C4469|DOID:8426|UMLS:C0346006|ICD9:239.2 owl:Class MONDO:0017857 biolink:NamedThing spina bifida-hypospadias syndrome Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. tmpte7i6ely_mondo_relaxed.owl UMLS:CN203872|Orphanet:3176|ICD10:Q05.9 owl:Class CL:1001320 biolink:NamedThing urethra cell tmpte7i6ely_mondo_relaxed.owl KUPO:0001123 cell owl:Class HGNC:638 biolink:NamedThing AQP5 tmpte7i6ely_mondo_relaxed.owl owl:Class NCBITaxon:1496 biolink:NamedThing Clostridioides difficile tmpte7i6ely_mondo_relaxed.owl Bacillus difficilis|Peptoclostridium difficile|Clostridium difficile|Clostridium difficle PMID:27902176|PMID:23834245|PMID:27370902|GC_ID:11 NCBITaxon:1581190|NCBITaxon:1440055 ncbi_taxonomy owl:Class MONDO:0010067 biolink:NamedThing splenoportal vascular anomalies tmpte7i6ely_mondo_relaxed.owl splenoportal vascular anomalies OMIM:271500|MESH:C562761|SCTID:234131004 owl:Class MONDO:0019665 biolink:NamedThing monostotic fibrous dysplasia Fibrous dysplasia of bone involving only one bone. tmpte7i6ely_mondo_relaxed.owl monostotic fibrous dysplasia of bone|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia (disease)|monostotic fibrous dysplasia monostotic fibrous dysplasia (disease) HP:0010736|ICD9:733.29|ICD10:M85.0|Orphanet:93277|ICD10:Q78.1|MESH:D005358|UMLS:C0016064|NCIT:C53971|SCTID:89859004 owl:Class HP:0001482 biolink:NamedThing Subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm. tmpte7i6ely_mondo_relaxed.owl Firm lump under the skin|Nodule below the skin|Multiple, subcutaneous nodules|Growth of abnormal tissue under the skin|Subcutaneous nodules UMLS:C0151811|UMLS:C0746926|SNOMEDCT_US:95325000 Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. HP:0005903 human_phenotype owl:Class MONDO:0012235 biolink:NamedThing autosomal recessive spinocerebellar ataxia 7 Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 7|spinocerebellar ataxia, autosomal recessive type 7|SCAR7|childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|autosomal recessive spinocerebellar ataxia type 7|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|spinocerebellar ataxia autosomal recessive 7 GARD:0012232|DOID:0080059|Orphanet:284324|ICD10:G11.1|MESH:C563753|UMLS:C1836474|OMIM:609270 https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 owl:Class MONDO:0018267 biolink:NamedThing combined cervical dystonia tmpte7i6ely_mondo_relaxed.owl Orphanet:370114|ICD10:G24.3 owl:Class HGNC:2625 biolink:NamedThing CYP2D6 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:3616 biolink:NamedThing FCGR2A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030525 biolink:NamedThing epidermolysis bullosa simplex 2B, generalized intermediate tmpte7i6ely_mondo_relaxed.owl EBS2B OMIM:619588 owl:Class MONDO:0017563 biolink:NamedThing congenital patella dislocation, bilateral tmpte7i6ely_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295237 owl:Class MONDO:0100025 biolink:NamedThing epilepsy of infancy with migrating focal seizures This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children. tmpte7i6ely_mondo_relaxed.owl 2018-06-22 23:54:03+00:00 SCTID:733195008|UMLS:C4518639 owl:Class MONDO:0008000 biolink:NamedThing migraine with or without aura, susceptibility to, 1 tmpte7i6ely_mondo_relaxed.owl migraine|Mgau|migraine with or without aura, susceptibility to, 1|migraine with or without aura, susceptibility to, type 1|Mgr1 OMIM:157300|SCTID:37796009|ICD9:346.80|ICD9:346.90 owl:Class MONDO:0008626 biolink:NamedThing ureter, bifid or double tmpte7i6ely_mondo_relaxed.owl ureter, bifid or double OMIM:191550|UMLS:C1860586|MESH:C566012 owl:Class MONDO:0030854 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 tmpte7i6ely_mondo_relaxed.owl combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1|OIEDS1|OIEDS Syndrome 1 OMIM:619115 owl:Class HP:0008169 biolink:NamedThing Reduced factor VII activity Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. tmpte7i6ely_mondo_relaxed.owl Factor VII deficiency MSH:D005168|UMLS:C0015503|SNOMEDCT_US:37193007|UMLS:C4024722 human_phenotype owl:Class MONDO:0009163 biolink:NamedThing encephalomalacia, multilocular tmpte7i6ely_mondo_relaxed.owl encephalomalacia, multilocular UMLS:C1856991|OMIM:225700|MESH:C565597 owl:Class MONDO:0018471 biolink:NamedThing generalized eruptive keratoacanthoma Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug. tmpte7i6ely_mondo_relaxed.owl GEKA|generalized eruptive keratoacanthomas of Grzybowski|Grzybowski syndrome Orphanet:411777|UMLS:CN237455|UMLS:C0345985|ICD10:L85.8|SCTID:254664008 owl:Class MONDO:0018333 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, mild type tmpte7i6ely_mondo_relaxed.owl MADD, mild type|glutaric aciduria type 2, mild type|MAD deficiency, mild type Orphanet:394532|UMLS:CN205005|ICD10:E71.3 owl:Class MONDO:0013833 biolink:NamedThing keratoconus 7 tmpte7i6ely_mondo_relaxed.owl keratoconus 7|KTCN7 UMLS:C3553308|OMIM:614629 owl:Class MONDO:0010034 biolink:NamedThing anosmia for butyl mercaptan tmpte7i6ely_mondo_relaxed.owl skunk N-butyl mercaptan, inability to smell|skunk N-BUTYLMERCAPTAN, inability to smell OMIM:270350 Editor note: consider obsoleting and replacing with OBA trait owl:Class HGNC:3259 biolink:NamedThing EIF2B3 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0016673 biolink:NamedThing localized junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails. tmpte7i6ely_mondo_relaxed.owl JEB-nH loc GARD:0012923|OMIM:226650|ICD10:Q81.8|UMLS:CN201914|Orphanet:251393 https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type owl:Class MONDO:0020661 biolink:NamedThing undifferentiated round cell sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio. tmpte7i6ely_mondo_relaxed.owl undifferentiated round cell sarcoma NCIT:C121799 owl:Class MONDO:0002769 biolink:NamedThing leukorrhea Whitish or yellowish mucosal vaginal discharge. tmpte7i6ely_mondo_relaxed.owl discharge - leukorrhea|leukorrhea of vagina DOID:3766|ICD10:N89.8|MESH:D007973|NCIT:C34775 owl:Class MONDO:0020748 biolink:NamedThing sitosterolemia 2 tmpte7i6ely_mondo_relaxed.owl STSL2 OMIM:618666 owl:Class MONDO:0023200 biolink:NamedThing Fryns Fabry Remans syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0002407 https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome owl:Class MONDO:0017105 biolink:NamedThing glioependymal/ependymal cyst Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). tmpte7i6ely_mondo_relaxed.owl Orphanet:269197 owl:Class MONDO:0030543 biolink:NamedThing combined oxidative phosphorylation deficiency 54 tmpte7i6ely_mondo_relaxed.owl COXPD54 OMIM:619737 owl:Class MONDO:0008034 biolink:NamedThing muscular dystrophy, pseudohypertrophic, with Internalized capillaries tmpte7i6ely_mondo_relaxed.owl muscular dystrophy, pseudohypertrophic, with Internalized capillaries Orphanet:98895|MESH:C563554|UMLS:C1834652|OMIM:159050 owl:Class MONDO:0013053 biolink:NamedThing microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. tmpte7i6ely_mondo_relaxed.owl Hadziselimovic syndrome|microcephaly-faciocardioskeletal syndrome SCTID:719395001|OMIM:612946|ICD10:Q87.8|UMLS:C2751878|Orphanet:217026|MESH:C567850 owl:Class HGNC:1190 biolink:NamedThing NPAP1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0001457 biolink:NamedThing secondary vitreoretinal degeneration tmpte7i6ely_mondo_relaxed.owl DOID:12167|ICD9:362.66|ICD10:H35.46|SCTID:60676002|UMLS:C0154859 owl:Class MONDO:0020007 biolink:NamedThing absence of the pulmonary artery Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age. tmpte7i6ely_mondo_relaxed.owl ICD10:Q25.7|UMLS:CN206941|Orphanet:980 owl:Class GO:0043574 biolink:NamedThing peroxisomal transport Transport of substances into, out of or within a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules. tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022876 biolink:NamedThing Cortes Lacassie syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001547 https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome owl:Class HGNC:777 biolink:NamedThing ZFHX3 tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0070327 biolink:NamedThing thyroid hormone transport The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpte7i6ely_mondo_relaxed.owl triiodothyronine transport|thyroxine transport owl:Class MONDO:0030909 biolink:NamedThing intellectual disability, X-linked, syndromic, Houge type tmpte7i6ely_mondo_relaxed.owl intellectual disability, X-linked, syndromic, Houge type|MRXSHG|intellectual disability, X-linked, syndromic, HOUGE type|mental retardation, X-linked, syndromic, HOUGE type|syndromic X-linked intellectual disability Hough type|syndromic X-linked mental retardation Hough type|mental retardation, X-linked, syndromic, Houge type UMLS:CN679647|OMIM:301008|DOID:0080242 owl:Class MONDO:0007463 biolink:NamedThing distal osteosclerosis tmpte7i6ely_mondo_relaxed.owl osteosclerosis, distal|distal osteosclerosis OMIM:126250|UMLS:C1852063|MESH:C565093 owl:Class MONDO:0012365 biolink:NamedThing gallbladder disease 2 tmpte7i6ely_mondo_relaxed.owl gallbladder disease 2|GBD2 MESH:C563687|UMLS:C1835925|OMIM:609918 owl:Class MONDO:0013010 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 71 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. tmpte7i6ely_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 71|autosomal recessive deafness 71|deafness, autosomal recessive 71|DFNB71|autosomal recessive nonsyndromic deafness 71 UMLS:C2748554|DOID:0110522|MESH:C567562|OMIM:612789|ICD10:H90.3 owl:Class MONDO:0001179 biolink:NamedThing pinguecula A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus. tmpte7i6ely_mondo_relaxed.owl EFO:1001824|SCTID:87614000|ICD9:372.51|MESH:D059407|ICD10:H11.15|UMLS:C0152255|DOID:11029 owl:Class MONDO:0007962 biolink:NamedThing Megalodactyly A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. tmpte7i6ely_mondo_relaxed.owl macrodactyly|Megalodactyly NCIT:C48900|OMIM:155500|MESH:C562546|SCTID:48449000 owl:Class OBO:CARO_0000007 biolink:NamedThing immaterial anatomical entity tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:25941 biolink:NamedThing TET2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007578 biolink:NamedThing esterase B tmpte7i6ely_mondo_relaxed.owl esterase B|ESB|esterase type B OMIM:133260 Editor note: consider obsoleting owl:Class MONDO:0008193 biolink:NamedThing paralysis agitans, juvenile, of Hunt tmpte7i6ely_mondo_relaxed.owl paralysis agitans, juvenile, of Hunt|Parkinson disease, juvenile, of Hunt GARD:0010359|ICD9:333.0|Orphanet:171695|MESH:C562469|SCTID:43647007|OMIM:168100 https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt owl:Class MONDO:0004909 biolink:NamedThing urethral gland abscess tmpte7i6ely_mondo_relaxed.owl SCTID:444820005|ICD10:N34.0|DOID:9877|ICD9:597.0 owl:Class MONDO:0003073 biolink:NamedThing trilateral retinoblastoma Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999). tmpte7i6ely_mondo_relaxed.owl NCIT:C7019|UMLS:C2608045|DOID:4647 owl:Class MONDO:0007816 biolink:NamedThing immune suppression tmpte7i6ely_mondo_relaxed.owl IS|streptococcal cell wall antigen, suppression of immune response to|immune suppression|Iscw OMIM:146850|UMLS:C1840264 Editor note: consider obsoleting owl:Class MONDO:0026730 biolink:NamedThing Basilicata-Akhtar syndrome tmpte7i6ely_mondo_relaxed.owl BASILICATA-AKHTAR SYNDROME|MRXSBA|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type|Mental Retardation, X-Linked, Syndromic 36 OMIM:301032 owl:Class MONDO:0008594 biolink:NamedThing familial multiple discoid fibromas A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation. tmpte7i6ely_mondo_relaxed.owl familial multiple trichodiscomas|discoid fibromas, familial multiple|hereditary multiple trichodiscomas|FMDF|small benign fibrovascular tumor of the dermal part of the hair disk|trichodiscomas, familial multiple UMLS:C1860850|OMIM:190340|MESH:C536847|Orphanet:538756|GARD:0008479 owl:Class MONDO:0019754 biolink:NamedThing multicentric Castleman disease Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. tmpte7i6ely_mondo_relaxed.owl plasmablastic multicentric Castleman disease|idiopathic multicentric Castleman's disease|MCD|multicentric Castleman's disease|multicentric plasma cell variant of Castleman's disease|multicentric Angiofollicular lymphoid hyperplasia|multicentric giant lymph node hyperplasia|PMCD url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease|NCIT:C27855|DOID:0111152|Orphanet:93686|GARD:0009644|OMIM:148000|UMLS:C1334815|ICD10:D36.0|GARD:9644 owl:Class MONDO:0006753 biolink:NamedThing Escherichia coli meningitis A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) tmpte7i6ely_mondo_relaxed.owl SCTID:192655005|MESH:D020814|ICD9:320.7|ICD9:320.82|UMLS:C0338395|EFO:1000929 owl:Class MONDO:0004318 biolink:NamedThing pulmonary type ovarian small cell carcinoma An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung. tmpte7i6ely_mondo_relaxed.owl ovarian small cell carcinoma, pulmonary type DOID:7650|NCIT:C40440|UMLS:C1518737 owl:Class MONDO:0100405 biolink:NamedThing acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.) tmpte7i6ely_mondo_relaxed.owl AML, Non-MLL MLLT10 Rearrangement|AML, Non-MLL MLLT10 Rearrangement Positive|AML, Non-KMT2A MLLT10 rearrangement positive|AML, Non-KMT2A MLLT10 Rearrangement NCIT:C168771 owl:Class MONDO:0012630 biolink:NamedThing Alzheimer disease 13 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. tmpte7i6ely_mondo_relaxed.owl AD13|Alzheimer's disease 13|Alzheimer disease 13|Alzheimer's disease type 13 DOID:0110046|Orphanet:1020|ICD10:G30|UMLS:C1970147|OMIM:611152|MESH:C567000 owl:Class MONDO:0019980 biolink:NamedThing renal hypoplasia, bilateral Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. tmpte7i6ely_mondo_relaxed.owl SCTID:268232000|Orphanet:97362|ICD10:Q60.4 owl:Class MONDO:0003894 biolink:NamedThing mediastinal melanocytic neurilemmoma A melanotic schwannoma that affects the mediastinum. tmpte7i6ely_mondo_relaxed.owl melanocytic schwannoma of the mediastinum|mediastinal melanotic schwannoma|melanocytic neurilemmoma of mediastinum|melanocytic neurilemmoma of the mediastinum|mediastinal melanocytic schwannoma|melanocytic schwannoma of mediastinum UMLS:C1334668|NCIT:C6635|DOID:6484 owl:Class MONDO:0020394 biolink:NamedThing tunnel subaortic stenosis tmpte7i6ely_mondo_relaxed.owl ICD10:Q24.4|Orphanet:99053 owl:Class MONDO:0022809 biolink:NamedThing Colver Steer Godman syndrome tmpte7i6ely_mondo_relaxed.owl GARD:0001448 https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome owl:Class MONDO:0007550 biolink:NamedThing epidermolysis bullosa simplex 1A, generalized severe A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. tmpte7i6ely_mondo_relaxed.owl epidermolysis bullosa simplex, Dowling-Meara type|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa herpetiformis, Dowling-Meara type|EBSDM|epidermolysis bullosa simplex, generalized severe|epidermolysis bullosa simplex Dowling-Meara type|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa herpetiformis Dowling-Meara type|EBS-DM|EBS, generalized severe|Dowling-Meara type epidermolysis bullosa simplex|EBS-gen sev GARD:0002141|ICD9:771.2|DOID:0060735|ICD10:Q81.0|SCTID:254179000|OMIM:131760|Orphanet:79396 https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type owl:Class MONDO:0030356 biolink:NamedThing short-rib thoracic dysplasia 21 without polydactyly tmpte7i6ely_mondo_relaxed.owl SRTD21|short-rib thoracic dysplasia 21 without polydactyly OMIM:619479 owl:Class HP:0001878 biolink:NamedThing Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). tmpte7i6ely_mondo_relaxed.owl Hemolytic anaemia|Increased hemolysis|Haemolytic anaemia SNOMEDCT_US:61261009|UMLS:C0002878|MSH:D000743 Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. HP:0004853|HP:0005503|HP:0004827|HP:0004868|HP:0001910 human_phenotype owl:Class HP:0006562 biolink:NamedThing Viral hepatitis Inflammation of the liver due to infection with a virus. tmpte7i6ely_mondo_relaxed.owl UMLS:C0042721|SNOMEDCT_US:3738000 human_phenotype owl:Class MONDO:0002196 biolink:NamedThing perinatal intestinal perforation tmpte7i6ely_mondo_relaxed.owl ICD10:P78.0|DOID:2073|ICD9:777.6|SCTID:65390006|UMLS:C0159006 owl:Class HGNC:2228 biolink:NamedThing COMT tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0030006 biolink:NamedThing combined oxidative phosphorylation deficiency 40 tmpte7i6ely_mondo_relaxed.owl combined oxidative phosphorylation deficiency 40|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40|COXPD40 OMIM:618835|Orphanet:570491 owl:Class MONDO:0043112 biolink:NamedThing lachiewicz sibley syndrome tmpte7i6ely_mondo_relaxed.owl hereditary renal disease and preauricular pits UMLS:C2931742|MESH:C538131|GARD:0003157 owl:Class HGNC:10610 biolink:NamedThing CCL11 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0010316 biolink:NamedThing FG syndrome 3 tmpte7i6ely_mondo_relaxed.owl FG syndrome 3|FGS3 GARD:0009924|OMIM:300406|Orphanet:323|UMLS:C1845567 https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3 owl:Class NCBITaxon:160008 biolink:NamedThing Mesocestoides lineatus tmpte7i6ely_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011811 biolink:NamedThing autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. tmpte7i6ely_mondo_relaxed.owl SCAR4|spinocerebellar ataxia 24|spinocerebellar ataxia, autosomal recessive 4|spinocerebellar ataxia 24 (formerly)|spinocerebellar ataxia 24, formerly|spinocerebellar ataxia autosomal recessive 4|SCASI|spinocerebellar ataxia with saccadic Intrusions MESH:C537310|UMLS:C1846492|ICD10:G11.1|GARD:0004952|OMIM:607317|DOID:0111611|Orphanet:95434 owl:Class MONDO:0009939 biolink:NamedThing pulmonic stenosis and congenital nephrosis tmpte7i6ely_mondo_relaxed.owl pulmonic stenosis and congenital nephrosis UMLS:C0403552|OMIM:265600|SCTID:236530006|MESH:C562895 owl:Class UBERON:0009020 biolink:NamedThing left uterine horn tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0008330 biolink:NamedThing pseudomonilethrix tmpte7i6ely_mondo_relaxed.owl pseudomonilethrix UMLS:C0432346|SCTID:254229006|OMIM:177750|MESH:C562988 owl:Class MONDO:0003347 biolink:NamedThing inflammatory leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. tmpte7i6ely_mondo_relaxed.owl inflammatory leiomyosarcoma NCIT:C27495|DOID:5251|UMLS:C1334179 owl:Class MONDO:8000015 biolink:NamedThing 46,XY sex reversal 11 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene. tmpte7i6ely_mondo_relaxed.owl XY gonadal agenesis syndrome|testicular regression, embryonic|TRS|anorchia, familial|SRXY11|testicular regression syndrome MESH:C537770|OMIM:273250 owl:Class HGNC:13508 biolink:NamedThing BPY2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004195 biolink:NamedThing thymic dysplasia The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. tmpte7i6ely_mondo_relaxed.owl DOID:7350|UMLS:C1331541|NCIT:C27802 owl:Class MONDO:0012325 biolink:NamedThing Nguyen syndrome tmpte7i6ely_mondo_relaxed.owl MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|Nguyen syndrome OMIM:609643|MESH:C536115|GARD:0009754|UMLS:C1864823 https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome owl:Class MONDO:0009460 biolink:NamedThing indolylacroyl glycinuria with intellectual disability tmpte7i6ely_mondo_relaxed.owl indolylacroyl glycinuria with mental retardation|indolylacroyl glycinuria with intellectual disability MESH:C565466|UMLS:C1855738|OMIM:243050 owl:Class MONDO:0020507 biolink:NamedThing Cree leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:99854|ICD10:E75.2|UMLS:C1858991|OMIM:603896 owl:Class MONDO:0014069 biolink:NamedThing syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome tmpte7i6ely_mondo_relaxed.owl camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome|WAHAB syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|Wahab syndrome UMLS:C3554611|OMIM:615170|Orphanet:357332|ICD10:Q87.2 owl:Class MONDO:0013296 biolink:NamedThing myeloid neoplasm associated with FGFR1 rearrangement Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype. tmpte7i6ely_mondo_relaxed.owl 8p11 stem cell leukemia/lymphoma syndrome|stem cell leukemia/lymphoma|myeloid/lymphoid neoplasms with FGFR1 rearrangement|8p11 stem cell syndrome|8p11 stem cell lymphoma/leukemia syndrome|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|myeloid and lymphoid neoplasms with FGFR1 rearrangement|8p11 myeloproliferative syndrome|chromosome 8p11 myeloproliferative syndrome Orphanet:168953|ICDO:9967/3|NCIT:C84277|UMLS:C2827362|ICD10:D47.1|ONCOTREE:MLNFGFR1|UMLS:C3150773|OMIM:613523 owl:Class MONDO:0018317 biolink:NamedThing growth retardation-mild developmental delay-chronic hepatitis syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:391366|UMLS:CN204964 owl:Class MONDO:0002632 biolink:NamedThing metachronous osteosarcoma of the bone A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites. tmpte7i6ely_mondo_relaxed.owl metachronous osteosarcoma|metachronous osteosarcoma of the bone NCIT:C38157|UMLS:C1334704|DOID:3379 owl:Class MONDO:0100066 biolink:NamedThing TH-deficient progressive infantile encephalopathy A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias. tmpte7i6ely_mondo_relaxed.owl tyrosine hydroxylase-deficient progressive infantile encephalopathy 2018-11-10 00:10:46+00:00 owl:Class MONDO:0009417 biolink:NamedThing hypergonadotropic hypogonadism-cataract syndrome This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. tmpte7i6ely_mondo_relaxed.owl cataracts and testicular failure|Lubinsky syndrome|hypogonadism cataract syndrome|hypogonadism-cataract syndrome ICD10:E29.1|UMLS:C1855859|SCTID:721233005|GARD:0000298|OMIM:240950|MESH:C543092|Orphanet:2410 owl:Class MONDO:0009085 biolink:NamedThing deafness-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. tmpte7i6ely_mondo_relaxed.owl deafness, congenital, with vitiligo and achalasia|deafness vitiligo achalasia|congenital deafness with vitiligo and achalasia Orphanet:3239|OMIM:221350|UMLS:C1857339|MESH:C565642|GARD:0001705|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia owl:Class MONDO:0017360 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. tmpte7i6ely_mondo_relaxed.owl vitamin B12-unresponsive methylmalonic aciduria type mut0|complete deficiency of methylmalonyl-CoA mutase ICD10:E71.1|OMIM:251000|SCTID:237945003|Orphanet:289916|UMLS:C1855114|UMLS:CN203025 owl:Class MONDO:0007616 biolink:NamedThing fibula, recurrent dislocation of head of tmpte7i6ely_mondo_relaxed.owl fibula, recurrent dislocation of head of UMLS:C1851099|OMIM:135800|MESH:C565011 owl:Class MONDO:0006578 biolink:NamedThing mediastinal lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. tmpte7i6ely_mondo_relaxed.owl mediastinal lipomatosis UMLS:C1334662|NCIT:C27488|EFO:1000732|DOID:3926 owl:Class MONDO:0001038 biolink:NamedThing perforated corneal ulcer tmpte7i6ely_mondo_relaxed.owl SCTID:46606001|ICD10:H16.07|UMLS:C0151844|ICD9:370.06|DOID:10445 owl:Class MONDO:0016675 biolink:NamedThing distal arthrogryposis type 10 tmpte7i6ely_mondo_relaxed.owl short tendo calcaneus|distal arthrogryposis type 10|plantar flexion contracture|arthrogryposis, distal, type 10|congenital plantar contractures|short Achilles tendon|DA10|tendo calcaneus, short OMIM:187370|MESH:C566069|DOID:0111593|ICD10:Q68.8|UMLS:C1861238|Orphanet:251515|SCTID:275336002 owl:Class MONDO:0001913 biolink:NamedThing oligospermia Decreased number of spermatozoa in the semen. tmpte7i6ely_mondo_relaxed.owl UMLS:C0028960|MESH:D009845|HP:0000798|ICD10:N46.1|NCIT:C34860|ICD9:606.1|DOID:14228|ICD10:N46.11 owl:Class MONDO:0018437 biolink:NamedThing acute myeloid leukemia with NPM1 somatic mutations Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. tmpte7i6ely_mondo_relaxed.owl AML with NPM1 somatic mutations SCTID:763309005|Orphanet:402026|ICD10:C92.0 owl:Class MONDO:0008326 biolink:NamedThing pseudocholinesterase, increase in plasma level of tmpte7i6ely_mondo_relaxed.owl pseudocholinesterase, increase in plasma level OF 2022-04-01 OMIM:177600 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0008580 biolink:NamedThing toes, space between first and second tmpte7i6ely_mondo_relaxed.owl toes, space between first and second OMIM:189230 owl:Class UBERON:0001120 biolink:NamedThing left lobe of thyroid gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022453 biolink:NamedThing angiomyomatous hamartoma An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node. tmpte7i6ely_mondo_relaxed.owl UMLS:C2959445|GARD:0008313 https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma owl:Class MONDO:0100376 biolink:NamedThing acute myeloid leukemia, t(9;11)(p21.3;q23.3) Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.) tmpte7i6ely_mondo_relaxed.owl AML, t(9;11)(p22;q23)|AML, t(9;11)(p21.3;q23.3) NCIT:C36370 term to be merged with: MONDO:0020317 'acute myeloid leukemia with 11q23 abnormalities' https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0000243 biolink:NamedThing ectothrix infectious disease A dermatophyte infection of the hair that infects the hair surface. tmpte7i6ely_mondo_relaxed.owl DOID:0050097 owl:Class MONDO:0016809 biolink:NamedThing spinocerebellar ataxia with epilepsy tmpte7i6ely_mondo_relaxed.owl SCAE|mitochondrial spinocerebellar ataxia with epilepsy|MSCAE UMLS:C1843852|OMIM:607459|UMLS:C1843851|Orphanet:254881|UMLS:CN202060 owl:Class MONDO:0007916 biolink:NamedThing primary intestinal lymphangiectasia Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children. tmpte7i6ely_mondo_relaxed.owl lymphangiectasia, intestinal|familial Waldmann's disease (type)|Waldmann's disease|Waldmann disease|primary intestinal lymphangiectasis Orphanet:90362|GARD:0007873|ICD10:I89.0|OMIM:152800|SCTID:6124009|ICD9:457.1|UMLS:CN206410|UMLS:C0267372 https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia owl:Class MONDO:0012740 biolink:NamedThing chromosome 22q11.2 deletion syndrome, distal Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours. tmpte7i6ely_mondo_relaxed.owl distal chromosome 22Q11.2 deletion syndrome|chromosome 22q11.2 deletion syndrome, distal|distal monosomy 22q11.2|distal del(22)(q11.2)|distal 22q11.2 microdeletion syndrome OMIM:611867|ICD10:Q93.5|Orphanet:261330|UMLS:C2678480|UMLS:C4518343|SCTID:734029004|DOID:0060413|MESH:C567511 owl:Class HGNC:2897 biolink:NamedThing DLC1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0017964 biolink:NamedThing 46,XX disorder of sex development induced by exogenous maternal-derived androgen tmpte7i6ely_mondo_relaxed.owl 46,XX DSD induced by exogenous maternal-derived androgen Orphanet:325099|ICD10:Q56.2|UMLS:CN227228 owl:Class MONDO:0033570 biolink:NamedThing combined oxidative phosphorylation deficiency 50 tmpte7i6ely_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50|COXPD50 OMIM:619025 owl:Class MONDO:0007532 biolink:NamedThing Electroencephalographic peculiarity: occipital slow beta waves tmpte7i6ely_mondo_relaxed.owl Electroencephalographic peculiarity: occipital slow beta waves 2022-04-01 OMIM:130400 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0012867 biolink:NamedThing hereditary spastic paraplegia 38 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15. tmpte7i6ely_mondo_relaxed.owl autosomal dominant spastic paraplegia type 38|hereditary spastic paraplegia type 38|autosomal dominant spastic paraplegia 38|SPG38|spastic paraplegia 38, autosomal dominant Orphanet:171617|UMLS:C2676732|MESH:C567349|DOID:0110789|ICD10:G11.4|OMIM:612335 owl:Class MONDO:0008248 biolink:NamedThing pigmented purpuric eruption tmpte7i6ely_mondo_relaxed.owl Schamberg purpura|progressive pigmented purpura|pigmented purpuric eruption|Schamberg disease|pigmented purpuric dermatosis|familial pigmented purpuric eruption|pigmented purpura UMLS:C0406515|SCTID:20343006|MESH:C537186|GARD:0007609|OMIM:172900 owl:Class MONDO:0030988 biolink:NamedThing developmental delay with dysmorphic facies and dental anomalies tmpte7i6ely_mondo_relaxed.owl DEFDA OMIM:619228 owl:Class MONDO:0004256 biolink:NamedThing lumbar spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the lumbar region of the spinal cord. tmpte7i6ely_mondo_relaxed.owl meningioma of the lumbar spinal canal and spinal cord|lumbar intraspinal meningioma|meningioma of lumbar spinal canal and spinal cord NCIT:C5298|DOID:7515|UMLS:C1334436 owl:Class MONDO:0022414 biolink:NamedThing allain-babin-demarquez syndrome tmpte7i6ely_mondo_relaxed.owl acro cephalo synostosis|craniosynostosis synostoses hypertensive nephropathy Orphanet:1526|GARD:0000124 https://rarediseases.info.nih.gov/diseases/124/allain-babin-demarquez-syndrome owl:Class MONDO:0017176 biolink:NamedThing Machado-Joseph disease type 3 Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. tmpte7i6ely_mondo_relaxed.owl azorean disease, type iii|SCA3, Machado type|spinocerebellar ataxia type 3, Machado type Orphanet:276244|SCTID:91955005|ICD10:G11.8 owl:Class MONDO:0006339 biolink:NamedThing ovarian microcystic stromal tumor A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma. tmpte7i6ely_mondo_relaxed.owl NCIT:C121953|EFO:1000424|UMLS:C4054287 owl:Class MONDO:0022699 biolink:NamedThing cerebral palsy spastic hemiplegic tmpte7i6ely_mondo_relaxed.owl spastic hemiplegia cerebral palsy|spastic hemiplegic cerebral palsy GARD:0010448 https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic owl:Class IAO:8000010 biolink:NamedThing exclusion subset ontology module A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes. tmpte7i6ely_mondo_relaxed.owl antislim exclusion subset ontology module owl:Class MONDO:0012385 biolink:NamedThing metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands tmpte7i6ely_mondo_relaxed.owl cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly|metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands GARD:0009942|OMIM:609989|MESH:C537354|UMLS:C1864944 https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands owl:Class HGNC:10947 biolink:NamedThing SLC20A2 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0022338 biolink:NamedThing ALK+ histiocytosis tmpte7i6ely_mondo_relaxed.owl anaplastic lymphoma kinase positive histiocytosis GARD:0010577 https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis owl:Class HGNC:9279 biolink:NamedThing PDP1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:1960 biolink:NamedThing CHRNA7 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0018979 biolink:NamedThing multifocal motor neuropathy Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping. tmpte7i6ely_mondo_relaxed.owl MMN|multifocal motor neuropathy with conduction block|MMNCB GARD:0011011|SCTID:230591002|ICD9:357.89|Orphanet:641|ICD10:G61.82|UMLS:C0393847|ICD10:G61.8 https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy owl:Class MONDO:0016035 biolink:NamedThing Nelson syndrome A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation. tmpte7i6ely_mondo_relaxed.owl Ridges-off-the-end syndrome|Nelson's syndrome|dermal Ridges UMLS:C0027577|MESH:C531754|MESH:D009347|SCTID:43019009|Orphanet:199244|ICD10:E24.1|MedDRA:10028913|GARD:0007170|DOID:4968|NCIT:C84917 https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome owl:Class MONDO:0004226 biolink:NamedThing diffuse intraductal papillomatosis tmpte7i6ely_mondo_relaxed.owl diffuse intraductal papillomatosis UMLS:C1377912|DOID:7444|NCIT:C7364 owl:Class MONDO:0012902 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 27 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1. tmpte7i6ely_mondo_relaxed.owl DFNA27|deafness, autosomal dominant 27|autosomal dominant nonsyndromic deafness 27|autosomal dominant deafness 27|autosomal dominant nonsyndromic deafness type 27 ICD10:H90.3|OMIM:612431|DOID:0110556 owl:Class MONDO:0023134 biolink:NamedThing febrile ulceronecrotic mucha-habermann disease Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death. tmpte7i6ely_mondo_relaxed.owl febrile ulceronecrotic pityriasis lichenoides acuta|ulceronecrotic Mucha-Habermann disease|A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)|febrile ulceronecrotic mucha-habermann disease|FUMHD|variant of Mucha-Habermann disease MESH:C537077|SCTID:402860008|GARD:0009516|UMLS:C1274297 https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease owl:Class MONDO:0018858 biolink:NamedThing Graham Little-Piccardi-Lassueur syndrome Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. tmpte7i6ely_mondo_relaxed.owl Graham Little syndrome|Piccardi-Lassueur-Little syndrome|Graham-Little-Piccardi-Lassueur syndrome UMLS:C0023645|GARD:0003195|Orphanet:505|UMLS:CN205176|ICD10:L66.1|SCTID:718215008 https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome owl:Class MONDO:0020770 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 tmpte7i6ely_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3|SCAN3 OMIM:618387 owl:Class MONDO:0007923 biolink:NamedThing macrocephaly, benign familial tmpte7i6ely_mondo_relaxed.owl macrocephaly, benign familial|benign familial megalencephaly|benign familial macrocephaly|Cole-Hughes syndrome OMIM:153470|MESH:C537717|GARD:0000147 https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial owl:Class MONDO:0001361 biolink:NamedThing spontaneous ocular nystagmus Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) tmpte7i6ely_mondo_relaxed.owl visual deprivation nystagmus|searching eye movements|ocular nystagmus SCTID:45339001|MESH:D009759|ICD10:H55.03|ICD9:379.53|UMLS:C0271384|DOID:11771 owl:Class MONDO:0054763 biolink:NamedThing neurodegeneration with brain iron accumulation 7 tmpte7i6ely_mondo_relaxed.owl neurodegeneration with brain iron accumulation 7|NBIA7 UMLS:CN895590|OMIM:617916 owl:Class MONDO:0010847 biolink:NamedThing spinocerebellar ataxia type 4 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. tmpte7i6ely_mondo_relaxed.owl spinocerebellar ataxia 4|spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|SCA4 UMLS:C0752122|Orphanet:98765|OMIM:600223|ICD10:G11.2|SCTID:715755008|GARD:0009970|DOID:0050957 owl:Class MONDO:0008839 biolink:NamedThing ataxia-microcephaly-cataract syndrome tmpte7i6ely_mondo_relaxed.owl ataxia-microcephaly-cataract syndrome|AMC syndrome MESH:C563086|OMIM:208870|UMLS:C0796056 owl:Class MONDO:0006746 biolink:NamedThing endomyocardial fibrosis A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. tmpte7i6ely_mondo_relaxed.owl obscure African cardiomyopathy|endomyocardial sclerosis|African endomyocardial fibrosis GARD:0006340|MESH:D004719|MedDRA:10014800|DOID:12932|NCIT:C34585|ICD9:425.0|EFO:1000921 https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis owl:Class MONDO:0017426 biolink:NamedThing postaxial polydactyly of fingers tmpte7i6ely_mondo_relaxed.owl postaxial polydactyly of hand SCTID:205131007|Orphanet:294942|ICD10:Q69.0|GARD:0012460 Editor note: check owl:Class HGNC:6116 biolink:NamedThing IRF1 tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:23162 biolink:NamedThing ALG10 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0033485 biolink:NamedThing short-rib thoracic dysplasia 19 with or without polydactyly tmpte7i6ely_mondo_relaxed.owl SRTD19|short-rib thoracic dysplasia 19 with or without polydactyly UMLS:CN842245|OMIM:617895|DOID:0080295 owl:Class MONDO:0011824 biolink:NamedThing autism, susceptibility to, 8 tmpte7i6ely_mondo_relaxed.owl autism, susceptibility to, 8|AUTS8|AUTS2, formerly|AUTS2 OMIM:607373 owl:Class MONDO:0041996 biolink:NamedThing thallium poisoning tmpte7i6ely_mondo_relaxed.owl thallium poisoning SCTID:51040009 owl:Class MONDO:0009544 biolink:NamedThing macrocephaly/megalencephaly syndrome, autosomal recessive tmpte7i6ely_mondo_relaxed.owl mental retardation, macrocephaly, short stature and craniofacial dysmorphism|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism|Fryns Dereymaeker Haegeman syndrome|MGCPH|macrocephaly/megalencephaly syndrome, autosomal recessive MESH:C537453|OMIM:248000|UMLS:C3806412|Orphanet:2477|GARD:0000148 owl:Class HGNC:1980 biolink:NamedThing CILP tmpte7i6ely_mondo_relaxed.owl owl:Class HGNC:4931 biolink:NamedThing HLA-A tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0003082 biolink:NamedThing filamentary keratitis tmpte7i6ely_mondo_relaxed.owl UMLS:C0155077|ICD10:H16.12|SCTID:51286002|ICD9:370.23|DOID:4664 owl:Class MONDO:0006560 biolink:NamedThing hypohidrosis Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. tmpte7i6ely_mondo_relaxed.owl Oligohidrosis DOID:11155|UMLS:C0020620|ICD10:L74.4|SCTID:45004005|EFO:1000712|HP:0000966|NCIT:C34718|MESH:D007007|Wikipedia:Hypodidrosis Editor note: consider obsoleting owl:Class MONDO:0033650 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 15 tmpte7i6ely_mondo_relaxed.owl MC4DN15 OMIM:619059 owl:Class MONDO:0004858 biolink:NamedThing occlusion of gallbladder Blockage of the normal flow of the contents of the gallbladder. tmpte7i6ely_mondo_relaxed.owl obstruction of gallbladder NCIT:C78308|UMLS:C0156214|SCTID:197416005|ICD10:K82.0|DOID:9714|ICD9:575.2 owl:Class MONDO:0009956 biolink:NamedThing red skin pigment anomaly of new guinea tmpte7i6ely_mondo_relaxed.owl red skin pigment anomaly of new guinea|Red skin pigment, New Guinea type UMLS:C1849451|OMIM:266350|GARD:0009757|MESH:C535515 https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea owl:Class MONDO:0030073 biolink:NamedThing Mitchell syndrome tmpte7i6ely_mondo_relaxed.owl Mitchell syndrome|MITCH OMIM:618960 owl:Class UBERON:0005250 biolink:NamedThing stomatodeum gland tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0007148 biolink:NamedThing appendicitis, proneness to tmpte7i6ely_mondo_relaxed.owl appendicitis, proneness to|appendicitis, susceptibility OMIM:107700 owl:Class MONDO:0008261 biolink:NamedThing hereditary sclerosing poikiloderma, Weary type tmpte7i6ely_mondo_relaxed.owl poikiloderma, hereditary sclerosing MESH:C562824|Orphanet:221039|OMIM:173700|ICD10:Q82.8 owl:Class MONDO:0044354 biolink:NamedThing Rosai-Dorfman disease Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia. tmpte7i6ely_mondo_relaxed.owl Destombes-RosaC/-Dorfman disease|RosaC/-Dorfman-Destombes disease|Destombes-Rosaï-Dorfman disease|Rosaï-Dorfman-Destombes disease|sinus histiocytosis with massive lymphadenopathy|SHML|Rosaï-Dorfman disease 2022-05-01 ONCOTREE:RDD|Orphanet:158014|ICD10:D76.3|MedDRA:10063397 Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve owl:Class MONDO:0014522 biolink:NamedThing retinal dystrophy and obesity tmpte7i6ely_mondo_relaxed.owl RDOB|retinal dystrophy and obesity OMIM:616188|UMLS:C4015424|Orphanet:791 owl:Class MONDO:0043133 biolink:NamedThing microcephaly micropenis convulsions tmpte7i6ely_mondo_relaxed.owl microcephaly micropenis seizures|microcephaly micropenis convulsions|microcephaly seizures genital hypoplasia MESH:C537540|UMLS:C2931525|GARD:0003628 owl:Class MONDO:0033561 biolink:NamedThing deeah syndrome tmpte7i6ely_mondo_relaxed.owl DEEAH SYNDROME|DEEAH|Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities OMIM:619004 owl:Class MONDO:0014778 biolink:NamedThing Lamb-Shaffer syndrome tmpte7i6ely_mondo_relaxed.owl Lamb-Shaffer syndrome; LAMSHF|Lamb-Shaffer syndrome|LAMSHF UMLS:C4225202|Orphanet:530983|OMIM:616803 owl:Class MONDO:0012207 biolink:NamedThing umbilicus, familial flat tmpte7i6ely_mondo_relaxed.owl umbilicus, familial flat|flat umbilicus autosomal dominant|flat umbilicus familial|flat umbilicus, autosomal dominant GARD:0009490|OMIM:609164|MESH:C537059|UMLS:C1836682 https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial owl:Class MONDO:0100032 biolink:NamedThing familial temporal lobe epilepsy syndrome This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. tmpte7i6ely_mondo_relaxed.owl 2018-06-23 01:48:38+00:00 owl:Class MONDO:0010987 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 8 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22. tmpte7i6ely_mondo_relaxed.owl DFNB10|deafness, autosomal recessive 8|NRSD8|neurosensory nonsyndromic recessive deafness 8|deafness, childhood-onset neurosensory, autosomal recessive 8|deafness, autosomal recessive 10|autosomal recessive deafness 8|childhood-onset neurosensory autosomal recessive deafness 8|autosomal recessive nonsyndromic deafness 8|DFNB8|deafness, autosomal recessive type 8|autosomal recessive nonsyndromic deafness type 8|autosomal recessive deafness 10 OMIM:601072|DOID:0110527|ICD10:H90.3|UMLS:C1832827 owl:Class MONDO:0030871 biolink:NamedThing vertebral hypersegmentation and orofacial anomalies tmpte7i6ely_mondo_relaxed.owl VHO OMIM:619122 owl:Class MONDO:0001497 biolink:NamedThing male genital organ vascular disease tmpte7i6ely_mondo_relaxed.owl vascular disorder of male genital organs ICD9:608.83|SCTID:198057005|DOID:12335|ICD10:N50.1|UMLS:C0042374 owl:Class MONDO:0003322 biolink:NamedThing epithelial predominant Wilms' tumor Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. tmpte7i6ely_mondo_relaxed.owl epithelial predominant kidney Wilms tumor|epithelial predominant renal Wilms tumor|epithelial predominant renal Wilms' tumor|epithelial predominant kidney adenosarcoma|epithelial predominant nephroblastoma|epithelial predominant Wilms tumor|epithelial predominant renal adenosarcoma|epithelial predominant renal Wilm's tumor NCIT:C9146|DOID:5189|UMLS:C0279608 owl:Class MONDO:0010968 biolink:NamedThing glaucoma 3, primary infantile, B tmpte7i6ely_mondo_relaxed.owl glaucoma, primary congenital, type B|primary congenital glaucoma type 3B|glaucoma primary congenita type 3B|glaucoma 3, primary infantile, B|GLC3B|Glc3, type B|primary congenital glaucoma|GLC3 type B|glaucoma 3 primary infantile B MESH:C536824|Orphanet:98976|Orphanet:156005|GARD:0002490|OMIM:600975|UMLS:C1832977 https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b owl:Class MONDO:0024490 biolink:NamedThing tumor grade X, general grading system tmpte7i6ely_mondo_relaxed.owl undetermined grade owl:Class HGNC:9291 biolink:NamedThing PPP1R3A tmpte7i6ely_mondo_relaxed.owl owl:Class GO:0004485 biolink:NamedThing methylcrotonoyl-CoA carboxylase activity Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate. tmpte7i6ely_mondo_relaxed.owl beta-methylcrotonyl CoA carboxylase activity|methylcrotonyl coenzyme A carboxylase activity|beta-methylcrotonyl-CoA carboxylase activity|MCCC activity|methylcrotonyl-CoA carboxylase activity|3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)|beta-methylcrotonyl coenzyme A carboxylase activity owl:Class MONDO:0003770 biolink:NamedThing thoracic spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the thoracic region of the spinal cord. tmpte7i6ely_mondo_relaxed.owl meningioma of thoracic spinal canal and spinal cord|meningioma of the thoracic spinal canal and spinal cord|thoracic intraspinal meningioma NCIT:C5297|UMLS:C1336738|DOID:6103 owl:Class MONDO:0015622 biolink:NamedThing wound myiasis tmpte7i6ely_mondo_relaxed.owl traumatic myiasis ICD9:998.89|Orphanet:165955|UMLS:C0344061|ICD10:B87.1|SCTID:240880004 owl:Class MONDO:0017251 biolink:NamedThing congenital pulmonary airway malformation type 3 tmpte7i6ely_mondo_relaxed.owl congenital cystic adenomatous malformation of the lung type 3|CCAM type 3|congenital cystic disease of the lung type 3|CPAM type 3|congenital cystic adenomatoid malformation of the lung type 3 ICD10:Q33.0|Orphanet:280847 owl:Class MONDO:0034147 biolink:NamedThing neonatal epileptic encephalopathy due to glutaminase deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:557064 owl:Class MONDO:0006783 biolink:NamedThing hemopneumothorax Collection of air and blood in the pleural cavity. tmpte7i6ely_mondo_relaxed.owl ICD9:511.89|EFO:1000963|DOID:2718|MESH:D006468|SCTID:16632002|MedDRA:10060632|UMLS:C0019077|ICD10:J94.2 owl:Class MONDO:0001510 biolink:NamedThing lateral displacement of eye tmpte7i6ely_mondo_relaxed.owl lateral displacement of globe ICD10:H05.21|ICD9:376.36|SCTID:48747004|UMLS:C0155272|DOID:12360 owl:Class MONDO:0003475 biolink:NamedThing papillary ependymoma A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO) tmpte7i6ely_mondo_relaxed.owl papillary ependymoma DOID:5505|NCIT:C4319|MESH:D004806|UMLS:C0334578|ICDO:9393/3 owl:Class MONDO:0030026 biolink:NamedThing retinal dystrophy with leukodystrophy tmpte7i6ely_mondo_relaxed.owl RETINAL DYSTROPHY WITH LEUKODYSTROPHY|RDLKD|retinal dystrophy with leukodystrophy OMIM:618863 owl:Class MONDO:0054742 biolink:NamedThing combined oxidative phosphorylation deficiency 35 tmpte7i6ely_mondo_relaxed.owl COXPD35|combined oxidative phosphorylation deficiency 35 UMLS:CN807948|OMIM:617873|DOID:0111464 owl:Class MONDO:0013385 biolink:NamedThing Treacher Collins syndrome 2 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene. tmpte7i6ely_mondo_relaxed.owl Treacher Collins syndrome 2|TREACHER COLLINS syndrome 2|TCS2|POLR1D Treacher-Collins syndrome|Treacher Collins syndrome type 2|Treacher-Collins syndrome caused by mutation in POLR1D OMIM:613717|Orphanet:861|UMLS:C3150983 owl:Class HGNC:6338 biolink:NamedThing KIR3DL1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0004488 biolink:NamedThing cervical atypical polypoid adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity. tmpte7i6ely_mondo_relaxed.owl NCIT:C40234|UMLS:C1516409|DOID:8179 owl:Class MONDO:0010021 biolink:NamedThing seizures, benign familial neonatal, autosomal recessive tmpte7i6ely_mondo_relaxed.owl convulsions, benign familial neonatal, autosomal recessive|seizures, benign familial neonatal, autosomal recessive|autosomal dominant form of benign neonatal seizures|epilepsy, benign familial neonatal, autosomal recessive|convulsions benign familial neonatal dominant form|Bfns, autosomal recessive OMIM:269720|GARD:0001519|MESH:C564823|UMLS:C1849250|Orphanet:1949 owl:Class MONDO:0003740 biolink:NamedThing AIDS phobia An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome. tmpte7i6ely_mondo_relaxed.owl AIDS phobia DOID:603|NCIT:C35614|EFO:1001873|UMLS:C0853870 owl:Class MONDO:0007605 biolink:NamedThing fibrinolytic defect tmpte7i6ely_mondo_relaxed.owl fibrinolytic defect OMIM:134900|MESH:C565017|UMLS:C1851184 owl:Class HGNC:924 biolink:NamedThing B4GALT1 tmpte7i6ely_mondo_relaxed.owl owl:Class MONDO:0009801 biolink:NamedThing familial osteodysplasia, Anderson type Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. tmpte7i6ely_mondo_relaxed.owl osteodysplasia familial Anderson type|osteodysplasia, familial, Anderson type GARD:0004136|MESH:C564923|Orphanet:2769|OMIM:259250|UMLS:C1850186 https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type owl:Class CHEBI:26606 biolink:NamedThing sapogenin Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids. tmpte7i6ely_mondo_relaxed.owl sapogenins|sapogenin owl:Class MONDO:0017508 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb, bilateral tmpte7i6ely_mondo_relaxed.owl Adactyly of hand, bilateral|digits 2-5 oligodactyly, bilateral|digits 2-5 hypodactyly, bilateral Orphanet:295114|ICD10:Q71.3 owl:Class MONDO:0001722 biolink:NamedThing central pterygium tmpte7i6ely_mondo_relaxed.owl DOID:13473|UMLS:C0155156|ICD9:372.43|SCTID:43300008 owl:Class MONDO:0012343 biolink:NamedThing aortic aneurysm, familial abdominal, 2 tmpte7i6ely_mondo_relaxed.owl AAA2|aortic aneurysm, familial abdominal, 2 UMLS:C1853364|MESH:C565229|Orphanet:86|OMIM:609782 owl:Class MONDO:0023062 biolink:NamedThing encephalocele anencephaly tmpte7i6ely_mondo_relaxed.owl GARD:0002109 https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly owl:Class MONDO:0007855 biolink:NamedThing keratosis, familial actinic tmpte7i6ely_mondo_relaxed.owl keratosis, familial actinic MESH:C567190|OMIM:148390|UMLS:C2675099 owl:Class MONDO:0013908 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3 OMIM:614834|Orphanet:79102 owl:Class MONDO:0030921 biolink:NamedThing intellectual disability, autosomal dominant 55, with seizures tmpte7i6ely_mondo_relaxed.owl autosomal dominant intellectual disability 55|MRD55|autosomal dominant mental retardation 55|mental retardation, autosomal dominant 55, with seizures|intellectual disability, autosomal dominant 55, with seizures UMLS:CN757796|OMIM:617831|DOID:0080227 owl:Class MONDO:0023609 biolink:NamedThing le Marec-Bracq-Picaud syndrome tmpte7i6ely_mondo_relaxed.owl complex malformation syndrome with brachymesomelia GARD:0000171|MESH:C536997|UMLS:C2931385 https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome owl:Class MONDO:0017890 biolink:NamedThing tubulocystic renal cell carcinoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. tmpte7i6ely_mondo_relaxed.owl Tubulocystic renal cell cancer Orphanet:319325|UMLS:C4288091|SCTID:733603009|NCIT:C126303|ICD10:C64 owl:Class GO:1990904 biolink:NamedThing ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules. tmpte7i6ely_mondo_relaxed.owl extracellular ribonucleoprotein complex|protein-RNA complex|RNA-protein complex|intracellular ribonucleoprotein complex|RNP|ribonucleoprotein complex owl:Class MONDO:0019989 biolink:NamedThing pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. tmpte7i6ely_mondo_relaxed.owl pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody|antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis Orphanet:97564|ICD10:N05.7 owl:Class MONDO:0012107 biolink:NamedThing neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia tmpte7i6ely_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia OMIM:608720|UMLS:C1837492|MESH:C563870 owl:Class MONDO:0008653 biolink:NamedThing vesicoureteral reflux 1 tmpte7i6ely_mondo_relaxed.owl vesicoureteral reflux 1|VUR1|VUR OMIM:193000|UMLS:CN032731|Orphanet:289365|UMLS:C0042580 owl:Class MONDO:0009842 biolink:NamedThing Pelger-Huet-like anomaly and episodic fever with abdominal pain tmpte7i6ely_mondo_relaxed.owl Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM:260570|MESH:C564899|UMLS:C1850054 owl:Class MONDO:0011593 biolink:NamedThing seizures, benign familial infantile, 2 tmpte7i6ely_mondo_relaxed.owl seizures, benign familial infantile, 2|BFIS2|seizures, benign familial infantile, type 2|convulsions, benign familial infantile, 2 MESH:C565296|Orphanet:306|UMLS:C1853995|OMIM:605751 owl:Class MONDO:0043361 biolink:NamedThing May-Thurner syndrome A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation. tmpte7i6ely_mondo_relaxed.owl Iliocaval compression syndromes|compression syndrome, Iliocaval|Iliocaval compression syndrome|iliac vein compression syndrome|syndrome, Iliocaval compression|May Thurner syndrome|syndrome, May-Thurner|syndrome, Cockett|Cockett syndrome|Iliac vein compression syndrome|May-Thurner syndrome|compression syndromes, Iliocaval|syndromes, Iliocaval compression MESH:D062108|SCTID:448804008|GARD:0012141|UMLS:C3165062 owl:Class MONDO:0011956 biolink:NamedThing autism, susceptibility to, 3 tmpte7i6ely_mondo_relaxed.owl AUTS3|autism, susceptibility to, 3 OMIM:608049 owl:Class MONDO:0018664 biolink:NamedThing ectopia cordis A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations. tmpte7i6ely_mondo_relaxed.owl ectopia cordis|ectopia cordis (disease) ectopia cordis (disease) NCIT:C111643|ICD10:Q24.8|MESH:D054083|HP:0001683|Orphanet:448270|ICD9:746.87|SCTID:78250005 owl:Class MONDO:0019760 biolink:NamedThing terminal transverse defects of arm tmpte7i6ely_mondo_relaxed.owl congenital limb amputation Orphanet:93937|UMLS:C1857578|OMIM:217100|ICD10:Q79.8 owl:Class MONDO:0060666 biolink:NamedThing hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome tmpte7i6ely_mondo_relaxed.owl hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome|HADDTS UMLS:CN895589|OMIM:617915 owl:Class MONDO:0018245 biolink:NamedThing 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. tmpte7i6ely_mondo_relaxed.owl Del(2)(p21) without cystinuria ICD10:Q93.5|Orphanet:369881|UMLS:CN204807 owl:Class OBO:pato#different_in_magnitude_relative_to biolink:NamedThing different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000066 biolink:NamedThing occurs in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpte7i6ely_mondo_relaxed.owl occurs_in|unfolds_in|unfolds in|unfolds in|unfolds_in|occurs_in Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant occurs in|occurs in owl:ObjectProperty BFO:0000067 biolink:NamedThing contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpte7i6ely_mondo_relaxed.owl Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant site of|site of owl:ObjectProperty OBO:bfo.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl RO:0002569 biolink:NamedThing has branching part inverse of branching part of|inverse of branching part of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002375 biolink:NamedThing in branching relationship with A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.|A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002320 biolink:NamedThing evolutionarily related to A relationship that holds via some environmental process|A relationship that holds via some environmental process tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:ro.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl RO:0004034 biolink:NamedThing acts upstream of, positive effect c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive|c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002263 biolink:NamedThing acts upstream of c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.|c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004032 biolink:NamedThing acts upstream of or within, positive effect tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0001000 biolink:NamedThing derives from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity|a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity tmpte7i6ely_mondo_relaxed.owl derives_from|derives_from This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'.|This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'. this cell derives from this parent cell (cell division)|this nucleus derives from this parent nucleus (nuclear division)|this cell derives from this parent cell (cell division)|this nucleus derives from this parent nucleus (nuclear division) owl:ObjectProperty owl:topObjectProperty biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty IAO:0000125 biolink:NamedThing pending final vetting All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor. tmpte7i6ely_mondo_relaxed.owl pending final vetting IAO:0000078 RO:0001001 biolink:NamedThing derives into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity|a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity tmpte7i6ely_mondo_relaxed.owl derives_into|derives_into This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'.|This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'. this parent nucleus derives into this nucleus (nuclear division)|this parent cell derives into this cell (cell division)|this parent nucleus derives into this nucleus (nuclear division)|this parent cell derives into this cell (cell division) owl:ObjectProperty RO:0000085 biolink:NamedThing has function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl has_function|has_function A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists.|A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists. this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function)|this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function) owl:ObjectProperty RO:0000053 biolink:NamedThing has characteristic a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence|Inverse of characteristic_of|a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence|Inverse of characteristic_of tmpte7i6ely_mondo_relaxed.owl bearer_of|is bearer of|bearer_of|is bearer of A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist.|A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist. bearer of|bearer of this apple is bearer of this red color|this vase is bearer of this fragility|this vase is bearer of this fragility|this apple is bearer of this red color owl:InverseFunctionalProperty RO:0002000 biolink:NamedThing 2D boundary of a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity|a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity tmpte7i6ely_mondo_relaxed.owl is boundary of|is 2D boundary of|boundary of|2D_boundary_of|is boundary of|2D_boundary_of|boundary of|is 2D boundary of A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. the surface of my skin is a 2D boundary of my body|the surface of my skin is a 2D boundary of my body owl:ObjectProperty RO:0001901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl RO:0002002 biolink:NamedThing has 2D boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity|a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity tmpte7i6ely_mondo_relaxed.owl has boundary|has_2D_boundary|has_2D_boundary|has boundary Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. my body has 2D boundary the surface of my skin|my body has 2D boundary the surface of my skin owl:ObjectProperty RO:0002323 biolink:NamedThing mereotopologically related to A mereological relationship or a topological relationship|A mereological relationship or a topological relationship tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004046 biolink:NamedThing causally upstream of or within, negative effect tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002418 biolink:NamedThing causally upstream of or within p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q.|p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. tmpte7i6ely_mondo_relaxed.owl affects owl:TransitiveProperty RO:0002082 biolink:NamedThing simultaneous with tmpte7i6ely_mondo_relaxed.owl t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2)|t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2) David Osumi-Sutherland|David Osumi-Sutherland owl:TransitiveProperty RO:0002081 biolink:NamedThing before or simultaneous with tmpte7i6ely_mondo_relaxed.owl <=|<= Primitive instance level timing relation between events|Primitive instance level timing relation between events David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002434 biolink:NamedThing interacts with A relationship that holds between two entities in which the processes executed by the two entities are causally connected.|A relationship that holds between two entities in which the processes executed by the two entities are causally connected. tmpte7i6ely_mondo_relaxed.owl in pairwise interaction with owl:SymmetricProperty RO:0004033 biolink:NamedThing acts upstream of or within, negative effect tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002264 biolink:NamedThing acts upstream of or within c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.|c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. tmpte7i6ely_mondo_relaxed.owl affects owl:ObjectProperty OBO:cl#has_high_plasma_membrane_amount biolink:NamedThing has_high_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002104 biolink:NamedThing has plasma membrane part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.|Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002225 biolink:NamedThing develops from part of x develops from part of y if and only if there exists some z such that x develops from z and z is part of y|x develops from part of y if and only if there exists some z such that x develops from z and z is part of y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002202 biolink:NamedThing develops_from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y|x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0002427 biolink:NamedThing causally downstream of or within inverse of causally upstream of or within|inverse of causally upstream of or within tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002501 biolink:NamedThing causal relation between processes p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q.|p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004000 biolink:NamedThing condition has genetic basis in tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004010 biolink:NamedThing is genetic basis for condition tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002410 biolink:NamedThing causally related to This relation groups causal relations between material entities and causal relations between processes|This relation groups causal relations between material entities and causal relations between processes tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002352 biolink:NamedThing input of inverse of has input|inverse of has input tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002328 biolink:NamedThing functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.|A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000056 biolink:NamedThing participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process|a relation between a continuant and a process, in which the continuant is somehow involved in the process tmpte7i6ely_mondo_relaxed.owl participates_in|participates_in participates in|participates in this investigator participates in this investigation|this blood clot participates in this blood coagulation|this input material (or this output material) participates in this process|this blood clot participates in this blood coagulation|this investigator participates in this investigation|this input material (or this output material) participates in this process owl:ObjectProperty RO:0002432 biolink:NamedThing is active in c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure.|c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure. tmpte7i6ely_mondo_relaxed.owl enables activity in owl:ObjectProperty RO:0002131 biolink:NamedThing overlaps x overlaps y iff they have some part in common.|x overlaps y if and only if there exists some z such that x has part z and z part of y|A overlaps B if they share some part in common.|A overlaps B if they share some part in common.|x overlaps y iff they have some part in common.|x overlaps y if and only if there exists some z such that x has part z and z part of y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002255 biolink:NamedThing developmentally contributes to inverse of has developmental contribution from|inverse of has developmental contribution from tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002385 biolink:NamedThing has potential to developmentally contribute to x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002286 biolink:NamedThing developmentally succeeded by Inverse of developmentally preceded by|Inverse of developmentally preceded by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty disease_causes_dysfunction_of biolink:NamedThing disease causes dysfunction of tmpte7i6ely_mondo_relaxed.owl RO:0004025|RO:0004025 disease_causes_dysfunction_of|disease_causes_dysfunction_of owl:ObjectProperty RO:0004023 biolink:NamedThing causal relationship with disease as subject tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002411 biolink:NamedThing causally upstream of p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain|p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000063 biolink:NamedThing precedes x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpte7i6ely_mondo_relaxed.owl precedes|precedes owl:ObjectProperty RO:0002005 biolink:NamedThing innervated_by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002134 biolink:NamedThing innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.|Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004011 biolink:NamedThing is causal gain of function germline mutation of in Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].|Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet]. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002178 biolink:NamedThing supplies Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.|Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002170 biolink:NamedThing connected to a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b|a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002211 biolink:NamedThing regulates (processual) process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2.|process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0002334 biolink:NamedThing regulated by inverse of regulates|inverse of regulates tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002285 biolink:NamedThing developmentally replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else|x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002258 biolink:NamedThing developmentally preceded by Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p|Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000050 biolink:NamedThing part_of a core relation that holds between a part and its whole|For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.)|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.) tmpte7i6ely_mondo_relaxed.owl part_of|part_of Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ is part of|is part of my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|this day is part of this year (occurrent parthood)|my brain is part of my body (continuant parthood, two material entities)|this day is part of this year (occurrent parthood)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|my brain is part of my body (continuant parthood, two material entities) http://www.obofoundry.org/ro/#OBO_REL:part_of|http://www.obofoundry.org/ro/#OBO_REL:part_of owl:TransitiveProperty BFO:0000051 biolink:NamedThing has_part a core relation that holds between a whole and its part|a core relation that holds between a whole and its part|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|a core relation that holds between a whole and its part|a core relation that holds between a whole and its part tmpte7i6ely_mondo_relaxed.owl has_part|has_part Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part. has part|has part my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|this year has part this day (occurrent parthood)|my body has part my brain (continuant parthood, two material entities)|this year has part this day (occurrent parthood)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|my body has part my brain (continuant parthood, two material entities) owl:TransitiveProperty OBO:obi.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl RO:0002449 biolink:NamedThing directly negatively regulates activity of The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. tmpte7i6ely_mondo_relaxed.owl molecularly decreases activity of owl:ObjectProperty RO:0002448 biolink:NamedThing directly regulates activity of The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B.|The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B. tmpte7i6ely_mondo_relaxed.owl molecularly controls owl:ObjectProperty RO:0002207 biolink:NamedThing directly develops from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.|Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002210 biolink:NamedThing directly develops into inverse of directly develops from|inverse of directly develops from tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty IAO:0000136 biolink:NamedThing is about A (currently) primitive relation that relates an information artifact to an entity.|is_about is a (currently) primitive relation that relates an information artifact to an entity.|is_about is a (currently) primitive relation that relates an information artifact to an entity.|A (currently) primitive relation that relates an information artifact to an entity. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002093 biolink:NamedThing ends during tmpte7i6ely_mondo_relaxed.owl overlaps|o|overlaps|o X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). |X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002222 biolink:NamedThing temporally related to tmpte7i6ely_mondo_relaxed.owl A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations.|A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations. owl:ObjectProperty RO:0002428 biolink:NamedThing involved in regulation of c involved in regulation of p if c is involved in some p' and p' regulates some p|c involved in regulation of p if c is involved in some p' and p' regulates some p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002431 biolink:NamedThing involved in or involved in regulation of c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p|c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002162 biolink:NamedThing in taxon x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.|x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. tmpte7i6ely_mondo_relaxed.owl RO:0002162|RO:0002162 in_taxon|in_taxon owl:ObjectProperty PMID:17921072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl PMID:20973947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl RO:0002559 biolink:NamedThing causally influenced by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002506 biolink:NamedThing causal relation between entities tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002566 biolink:NamedThing causally influences The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).|The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000091 biolink:NamedThing has disposition a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000092 biolink:NamedThing disposition of inverse of has disposition|inverse of has disposition tmpte7i6ely_mondo_relaxed.owl This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. owl:ObjectProperty RO:0002179 biolink:NamedThing drains Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.|Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002376 biolink:NamedThing tributary of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.|x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000080 biolink:NamedThing quality of a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence|a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl quality_of|is quality of|quality_of|is quality of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A quality inheres in its bearer at all times for which the quality exists.|A quality inheres in its bearer at all times for which the quality exists. this red color is a quality of this apple|this red color is a quality of this apple owl:ObjectProperty RO:0000052 biolink:NamedThing characteristic of a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence|a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl inheres_in|inheres_in Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing.|Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing. inheres in|inheres in this fragility is a characteristic of this vase|this red color is a characteristic of this apple|this red color is a characteristic of this apple|this fragility is a characteristic of this vase owl:FunctionalProperty RO:0000086 biolink:NamedThing has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl has_quality|has_quality A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist.|A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist. this apple has quality this red color|this apple has quality this red color owl:ObjectProperty RO:0014001 biolink:NamedThing disease has infectious agent A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent.|A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent. tmpte7i6ely_mondo_relaxed.owl RO:0014001|RO:0014001 disease_has_infectious_agent|disease_has_infectious_agent owl:ObjectProperty RO:0004019 biolink:NamedThing disease has basis in tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002433 biolink:NamedThing contributes to morphology of p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.|p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002379 biolink:NamedThing spatially coextensive with x spatially_coextensive_with y if and inly if x and y have the same location|x spatially_coextensive_with y if and inly if x and y have the same location tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002295 biolink:NamedThing results in developmental progression of p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).|p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002324 biolink:NamedThing developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502)|A relationship that holds between entities participating in some developmental process (GO:0032502) tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000055 biolink:NamedThing realizes tmpte7i6ely_mondo_relaxed.owl BFO_0000055|BFO_0000055 BFO_0000055s|BFO_0000055s BFO_0000055ed|BFO_0000055ed owl:ObjectProperty OBI:0000293 biolink:NamedThing has_specified_input A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBI:0000295 biolink:NamedThing is_specified_input_of A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000057 biolink:NamedThing has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process|a relation between a process and a continuant, in which the continuant is somehow involved in the process tmpte7i6ely_mondo_relaxed.owl has_participant|has_participant Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time.|Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time. has participant|has participant this blood coagulation has participant this blood clot|this investigation has participant this investigator|this process has participant this input material (or this output material)|this process has participant this input material (or this output material)|this investigation has participant this investigator|this blood coagulation has participant this blood clot http://www.obofoundry.org/ro/#OBO_REL:has_participant|http://www.obofoundry.org/ro/#OBO_REL:has_participant owl:ObjectProperty RO:0002333 biolink:NamedThing enabled by inverse of enables|inverse of enables tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0009501 biolink:NamedThing realized in response to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r.|r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. tmpte7i6ely_mondo_relaxed.owl triggered by process RO:0009501|RO:0009501 realized_in_response_to|realized_in_response_to owl:ObjectProperty RO:0002430 biolink:NamedThing involved in negative regulation of c involved in regulation of p if c is involved in some p' and p' negatively regulates some p|c involved in regulation of p if c is involved in some p' and p' negatively regulates some p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004001 biolink:NamedThing has material basis in gain of function germline mutation in tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002509 biolink:NamedThing determined by part of s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w.|s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0003001 biolink:NamedThing produced by a produced_by b iff some process that occurs_in b has_output a.|a produced_by b iff some process that occurs_in b has_output a. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002405 biolink:NamedThing immediately causally downstream of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002087 biolink:NamedThing immediately preceded by X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) tmpte7i6ely_mondo_relaxed.owl is directly preceded by|directly preceded by|is immediately preceded by|starts_at_end_of starts_at_end_of|starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002404 biolink:NamedThing causally downstream of inverse of upstream of|inverse of upstream of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002412 biolink:NamedThing immediately causally upstream of p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q.|p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000079 biolink:NamedThing function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence|a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl function_of|is function of|function_of|is function of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists.|A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists. this catalysis function is a function of this enzyme|this catalysis function is a function of this enzyme owl:ObjectProperty RO:0002450 biolink:NamedThing directly positively regulates activity of The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. tmpte7i6ely_mondo_relaxed.owl molecularly increases activity of owl:ObjectProperty RO:0002495 biolink:NamedThing immediate transformation of x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t|x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002494 biolink:NamedThing transformation of x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships|x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002598 biolink:NamedThing capable of positively regulating Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a positively regulates p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002596 biolink:NamedThing capable of regulating Holds between c and p if and only if c is capable of some activity a, and a regulates p.|Holds between c and p if and only if c is capable of some activity a, and a regulates p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002163 biolink:NamedThing spatially disjoint from A is spatially_disjoint_from B if and only if they have no parts in common|A is spatially_disjoint_from B if and only if they have no parts in common tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002221 biolink:NamedThing surrounds inverse of surrounded by|inverse of surrounded by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002220 biolink:NamedThing adjacent to x adjacent to y if and only if x and y share a boundary.|x adjacent to y if and only if x and y share a boundary. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002507 biolink:NamedThing determined by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s.|s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002508 biolink:NamedThing determines inverse of determined by|inverse of determined by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002287 biolink:NamedThing part of developmental precursor of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002567 biolink:NamedThing biomechanically related to A relation that holds between elements of a musculoskeletal system or its analogs.|A relation that holds between elements of a musculoskeletal system or its analogs. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002571 biolink:NamedThing lumen of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.|x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty disease_disrupts biolink:NamedThing disease causes disruption of A relationship between a disease and a process where the disease process disrupts the execution of the process.|A relationship between a disease and a process where the disease process disrupts the execution of the process. tmpte7i6ely_mondo_relaxed.owl RO:0004024|RO:0004024 disease_disrupts|disease_disrupts owl:ObjectProperty RO:0002331 biolink:NamedThing involved in c involved_in p if and only if c enables some process p', and p' is part of p|c involved_in p if and only if c enables some process p', and p' is part of p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty https://en.wikipedia.org/wiki/Allen%27s_interval_algebra biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl RO:0002493 biolink:NamedThing existence ends with x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).|x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002492 biolink:NamedThing existence ends during x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).|x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004026 biolink:NamedThing disease has location A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity.|A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. tmpte7i6ely_mondo_relaxed.owl RO:0004026|RO:0004026 disease_has_location|disease_has_location owl:ObjectProperty RO:0040035 biolink:NamedThing disease relationship This relation groups relations between diseases and any other kind of entity.|This relation groups relations between diseases and any other kind of entity. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_has_major_feature biolink:NamedThing disease has major feature tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004029 biolink:NamedThing disease has feature A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease.|A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. tmpte7i6ely_mondo_relaxed.owl RO:0004029|RO:0004029 disease_has_feature|disease_has_feature owl:ObjectProperty RO:0002497 biolink:NamedThing existence ends during or before x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.|x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002487 biolink:NamedThing relation between physical entity and a process or stage tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002563 biolink:NamedThing interaction relation helper property tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002464 biolink:NamedThing helper property (not for use in curation) tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004020 biolink:NamedThing disease has basis in dysfunction of A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function.|A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. tmpte7i6ely_mondo_relaxed.owl RO:0004020|RO:0004020 disease_has_basis_in_dysfunction_of|disease_has_basis_in_dysfunction_of owl:ObjectProperty RO:0002090 biolink:NamedThing immediately precedes tmpte7i6ely_mondo_relaxed.owl meets|ends_at_start_of|ends_at_start_of|meets X immediately_precedes_Y iff: end(X) simultaneous_with start(Y)|X immediately_precedes_Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002212 biolink:NamedThing negatively regulates Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002305 biolink:NamedThing causally upstream of, negative effect tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002335 biolink:NamedThing negatively regulated by inverse of negatively regulates|inverse of negatively regulates tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002309 biolink:NamedThing has exposure stimulus A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event.|A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002244 biolink:NamedThing related via exposure to Any relationship between an exposure event or process and any other entity.|Any relationship between an exposure event or process and any other entity. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004017 biolink:NamedThing realizable has basis in tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004018 biolink:NamedThing is basis for realizable tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:pato#increased_in_magnitude_relative_to biolink:NamedThing increased_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0002017 biolink:NamedThing has component activity tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002018 biolink:NamedThing has component process w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBI:0000312 biolink:NamedThing is_specified_output_of A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBI:0000417 biolink:NamedThing achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBI:0000833 biolink:NamedThing objective_achieved_by This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002180 biolink:NamedThing has_component w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty NCIT:R81 biolink:NamedThing Anatomic_Structure_Has_Location tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002223 biolink:NamedThing starts inverse of starts with|Relation between occurrents, shares a start boundary with.|inverse of starts with|Relation between occurrents, shares a start boundary with. tmpte7i6ely_mondo_relaxed.owl Allen|Allen Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002224 biolink:NamedThing starts with x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpte7i6ely_mondo_relaxed.owl started by|started by Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor|Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor Chris Mungall|Chris Mungall owl:TransitiveProperty NCIT:R163 biolink:NamedThing Procedure_Has_Target_Anatomy tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty NCIT:R82 biolink:NamedThing Anatomic_Structure_Is_Physical_Part_Of tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0001018 biolink:NamedThing contained in tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0001019 biolink:NamedThing contains tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002229 biolink:NamedThing ends Relation between occurrents, shares an end boundary with.|inverse of ends with|inverse of ends with|Relation between occurrents, shares an end boundary with. tmpte7i6ely_mondo_relaxed.owl finishes Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002230 biolink:NamedThing ends with x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpte7i6ely_mondo_relaxed.owl finished by|finished by Chris Mungall|Chris Mungall owl:TransitiveProperty RO:0002156 biolink:NamedThing derived by descent from d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.|d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a. tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0002157 biolink:NamedThing has derived by descendant inverse of derived by descent from|inverse of derived by descent from tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002216 biolink:NamedThing capable of part of c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.|c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002500 biolink:NamedThing causal agent in process A relationship between a material entity and a process where the material entity has some causal role that influences the process|A relationship between a material entity and a process where the material entity has some causal role that influences the process tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty MONDO:0100332 biolink:NamedThing disease has primary infectious agent tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432 owl:ObjectProperty RO:0002086 biolink:NamedThing ends after tmpte7i6ely_mondo_relaxed.owl X ends_after Y iff: end(Y) before_or_simultaneous_with end(X)|X ends_after Y iff: end(Y) before_or_simultaneous_with end(X) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002213 biolink:NamedThing positively regulates Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0002336 biolink:NamedThing positively regulated by inverse of positively regulates|inverse of positively regulates tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002304 biolink:NamedThing causally upstream of, positive effect tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002485 biolink:NamedThing receives input from tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002486 biolink:NamedThing sends output to tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0000059 biolink:NamedThing concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant.|A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. tmpte7i6ely_mondo_relaxed.owl An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant). owl:ObjectProperty RO:0011002 biolink:NamedThing regulates activity of The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B.|The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000062 biolink:NamedThing preceded_by x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpte7i6ely_mondo_relaxed.owl is preceded by|takes place after preceded_by|is preceded by|preceded_by|is preceded by An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other.|An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other. preceded by|preceded by http://www.obofoundry.org/ro/#OBO_REL:preceded_by|http://www.obofoundry.org/ro/#OBO_REL:preceded_by owl:ObjectProperty RO:0002387 biolink:NamedThing has potential to develop into x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002384 biolink:NamedThing has developmental potential involving x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).|x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002160 biolink:NamedThing only in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z.|x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002388 biolink:NamedThing has potential to directly develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002232 biolink:NamedThing has end location x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y|x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002479 biolink:NamedThing has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.|p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0009001 biolink:NamedThing has substance added "has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time.|"has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty IAO:0000428 biolink:NamedThing requires discussion A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues. tmpte7i6ely_mondo_relaxed.owl group:OBI requires discussion Alan Ruttenberg IAO:0000078 RO:0002234 biolink:NamedThing has output p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p.|p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002353 biolink:NamedThing output of inverse of has output|inverse of has output tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002608 biolink:NamedThing process has causal agent Inverse of 'causal agent in process'|Inverse of 'causal agent in process' tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002429 biolink:NamedThing involved in positive regulation of c involved in regulation of p if c is involved in some p' and p' positively regulates some p|c involved in regulation of p if c is involved in some p' and p' positively regulates some p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002322 biolink:NamedThing confers advantage in tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002321 biolink:NamedThing ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)|A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0010001 biolink:NamedThing generically depends on A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*.|A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*. tmpte7i6ely_mondo_relaxed.owl g-depends on owl:ObjectProperty RO:0010002 biolink:NamedThing is carrier of *b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t*|*b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t* tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002354 biolink:NamedThing formed as result of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002200 biolink:NamedThing has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).|A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002201 biolink:NamedThing phenotype of inverse of has phenotype|inverse of has phenotype tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002568 biolink:NamedThing has muscle antagonist m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002329 biolink:NamedThing part of structure that is capable of this relation holds between c and p when c is part of some c', and c' is capable of p.|this relation holds between c and p when c is part of some c', and c' is capable of p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002595 biolink:NamedThing causal relation between material entity and a process A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.|A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002314 biolink:NamedThing characteristic of part of q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w.|q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.|q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.|q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002502 biolink:NamedThing depends on tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0003000 biolink:NamedThing produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.|a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002351 biolink:NamedThing has member has member is a mereological relation between a collection and an item.|has member is a mereological relation between a collection and an item. tmpte7i6ely_mondo_relaxed.owl SIO|SIO owl:IrreflexiveProperty RO:0001015 biolink:NamedThing location of a relation between two independent continuants, the location and the target, in which the target is entirely within the location|a relation between two independent continuants, the location and the target, in which the target is entirely within the location tmpte7i6ely_mondo_relaxed.owl location_of|location_of Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ is location of|is location of this cage is the location of this rat|my head is the location of my brain|my head is the location of my brain|this cage is the location of this rat owl:ObjectProperty RO:0001025 biolink:NamedThing located in a relation between two independent continuants, the target and the location, in which the target is entirely within the location|a relation between two independent continuants, the target and the location, in which the target is entirely within the location tmpte7i6ely_mondo_relaxed.owl located_in|located_in Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus located in|located in this rat is located in this cage|my brain is located in my head|this rat is located in this cage|my brain is located in my head http://www.obofoundry.org/ro/#OBO_REL:located_in|http://www.obofoundry.org/ro/#OBO_REL:located_in owl:ObjectProperty RO:0000081 biolink:NamedThing role of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence|a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl is role of|role_of|role_of|is role of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists.|A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists. this investigator role is a role of this person|this investigator role is a role of this person owl:ObjectProperty RO:0000087 biolink:NamedThing has role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence tmpte7i6ely_mondo_relaxed.owl has_role|has_role A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists.|A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists. this person has role this investigator role (more colloquially: this person has this role of investigator)|this person has role this investigator role (more colloquially: this person has this role of investigator) owl:ObjectProperty RO:0002226 biolink:NamedThing develops in x develops_in y if x is located in y whilst x is developing|x develops_in y if x is located in y whilst x is developing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002373 biolink:NamedThing has muscle insertion m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002371 biolink:NamedThing attached to a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a|a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty has_modifier biolink:NamedThing has modifier A relation that holds between an attribute or a qualifier and another attribute.|A relation that holds between an attribute or a qualifier and another attribute. tmpte7i6ely_mondo_relaxed.owl RO:0002573|RO:0002573 has_modifier|has_modifier owl:ObjectProperty RO:0002327 biolink:NamedThing enables tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002215 biolink:NamedThing capable_of A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. |A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002436 biolink:NamedThing molecularly interacts with An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other.|An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002203 biolink:NamedThing develops into inverse of develops from|inverse of develops from tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004035 biolink:NamedThing acts upstream of, negative effect c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative|c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002150 biolink:NamedThing continuous with X continuous_with Y if and only if X and Y share a fiat boundary.|X continuous_with Y if and only if X and Y share a fiat boundary. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002488 biolink:NamedThing existence starts during x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).|x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002490 biolink:NamedThing existence overlaps x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))|x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002496 biolink:NamedThing existence starts during or after x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).|x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004031 biolink:NamedThing enables subfunction Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P.|Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002023 biolink:NamedThing directly negatively regulated by Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.|Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002022 biolink:NamedThing directly regulated by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002630 biolink:NamedThing directly negatively regulates Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2.|Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBI:0000299 biolink:NamedThing has_specified_output A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004027 biolink:NamedThing disease has inflammation site A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity|A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity tmpte7i6ely_mondo_relaxed.owl RO:0004027|RO:0004027 disease_has_inflammation_site|disease_has_inflammation_site owl:ObjectProperty RO:0002447 biolink:NamedThing phosphorylates tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000163 biolink:NamedThing material basis of at all times tmpte7i6ely_mondo_relaxed.owl BFO_0000163|BFO_0000163 BFO_0000163s|BFO_0000163s BFO_0000163ed|BFO_0000163ed owl:ObjectProperty OBO:MF#manifestationOf biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl manifestationOf|manifestationOf manifestationOfs|manifestationOfs manifestationOfed|manifestationOfed owl:ObjectProperty RO:0002084 biolink:NamedThing during which ends tmpte7i6ely_mondo_relaxed.owl Previously had ID http://purl.obolibrary.org/obo/RO_0002122 in test files in sandpit - but this seems to have been dropped from ro-edit.owl at some point. No re-use under this ID AFAIK, but leaving note here in case we run in to clashes down the line. Official ID now chosen from DOS ID range.|Previously had ID http://purl.obolibrary.org/obo/RO_0002122 in test files in sandpit - but this seems to have been dropped from ro-edit.owl at some point. No re-use under this ID AFAIK, but leaving note here in case we run in to clashes down the line. Official ID now chosen from DOS ID range. David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002177 biolink:NamedThing attached to part of a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.|a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000054 biolink:NamedThing realized in tmpte7i6ely_mondo_relaxed.owl BFO:0000054|BFO:0000054 realized_in|realized_in owl:ObjectProperty RO:0000058 biolink:NamedThing is concretized as A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants.|A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants. tmpte7i6ely_mondo_relaxed.owl A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The journal article (a generically dependent continuant) is concretized as the quality (a specifically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The journal article (a generically dependent continuant) is concretized as the quality (a specifically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process). owl:ObjectProperty RO:0002629 biolink:NamedThing directly positively regulates Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2.|Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002578 biolink:NamedThing directly regulates Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2.|Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002024 biolink:NamedThing directly positively regulated by Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1.|Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002015 biolink:NamedThing has positive regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002013 biolink:NamedThing has regulatory component activity A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B.|A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002257 biolink:NamedThing developmentally induces Inverse of developmentally induced by|Inverse of developmentally induced by tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002386 biolink:NamedThing has potential to developmentally induce x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y|x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002597 biolink:NamedThing capable of negatively regulating Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002350 biolink:NamedThing member of is member of is a mereological relation between a item and a collection.|is member of is a mereological relation between a item and a collection. tmpte7i6ely_mondo_relaxed.owl member part of|is member of|is member of|member part of SIO|SIO An organism that is a member of a population of organisms|An organism that is a member of a population of organisms owl:ObjectProperty RO:0002303 biolink:NamedThing has habitat x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs.|x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002473 biolink:NamedThing composed primarily of x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.|x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004047 biolink:NamedThing causally upstream of or within, positive effect tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002158 biolink:NamedThing shares ancestor with two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.|two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000117 biolink:NamedThing has occurrent part tmpte7i6ely_mondo_relaxed.owl BFO_0000117|BFO_0000117 BFO_0000117s|BFO_0000117s BFO_0000117ed|BFO_0000117ed owl:ObjectProperty BFO:0000132 biolink:NamedThing part of occurrent tmpte7i6ely_mondo_relaxed.owl BFO_0000132|BFO_0000132 BFO_0000132s|BFO_0000132s BFO_0000132ed|BFO_0000132ed owl:TransitiveProperty RO:0002007 biolink:NamedThing bounding layer of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000|X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002489 biolink:NamedThing existence starts with x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).|x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:pato#decreased_in_magnitude_relative_to biolink:NamedThing decreased_in_magnitude_relative_to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty RO:0002481 biolink:NamedThing is kinase activity tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002564 biolink:NamedThing molecular interaction relation helper property tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002014 biolink:NamedThing has negative regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002254 biolink:NamedThing has developmental contribution from x has developmental contribution from y iff x has some part z such that z develops from y|x has developmental contribution from y iff x has some part z such that z develops from y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002491 biolink:NamedThing existence starts and ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)|x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) tmpte7i6ely_mondo_relaxed.owl exists during owl:ObjectProperty RO:0004028 biolink:NamedThing realized in response to stimulus A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M.|A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. tmpte7i6ely_mondo_relaxed.owl RO:0004028|RO:0004028 realized_in_response_to_stimulus|realized_in_response_to_stimulus owl:ObjectProperty RO:0004030 biolink:NamedThing disease arises from structure A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure.|A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. tmpte7i6ely_mondo_relaxed.owl RO:0004030|RO:0004030 disease_arises_from_structure|disease_arises_from_structure owl:ObjectProperty OBO:chebi#is_conjugate_acid_of biolink:NamedThing is conjugate acid of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_conjugate_base_of biolink:NamedThing is conjugate base of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002380 biolink:NamedThing branching part of x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y|x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002584 biolink:NamedThing has part structure that is capable of s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p|s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002372 biolink:NamedThing has muscle origin m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004021 biolink:NamedThing disease has basis in disruption of A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process.|A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. tmpte7i6ely_mondo_relaxed.owl RO:0004021|RO:0004021 Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in|Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in disease_has_basis_in_disruption_of|disease_has_basis_in_disruption_of owl:ObjectProperty RO:0002176 biolink:NamedThing connects c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.|c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002233 biolink:NamedThing has input p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.|p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0004022 biolink:NamedThing disease arises from feature A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature.|A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. tmpte7i6ely_mondo_relaxed.owl RO:0004022|RO:0004022 disease_arises_from_feature|disease_arises_from_feature owl:ObjectProperty RO:0002120 biolink:NamedThing synapsed to Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. | Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002231 biolink:NamedThing has start location x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y|x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002025 biolink:NamedThing has effector activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity.|A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002374 biolink:NamedThing derived from ancestral fusion of x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat tmpte7i6ely_mondo_relaxed.owl has fused element owl:ObjectProperty RO:0002576 biolink:NamedThing skeleton of inverse of has skeleton|inverse of has skeleton tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_low_plasma_membrane_amount biolink:NamedThing has_low_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty FOODON:00001563 biolink:NamedThing has defining ingredient A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient.|A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty FOODON:00002420 biolink:NamedThing has ingredient A relation attaching between a food material and another food material that has been added to it at some point in its history.|A relation attaching between a food material and another food material that has been added to it at some point in its history. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002297 biolink:NamedThing results in formation of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002219 biolink:NamedThing surrounded by x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x|x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002100 biolink:NamedThing has soma location Relation between a neuron and an anatomical structure that its soma is part of.|Relation between a neuron and an anatomical structure that its soma is part of. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty MONDO:0100333 biolink:NamedThing disease caused by reactivation of latent infectious agent tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432 owl:ObjectProperty RO:0002256 biolink:NamedThing developmentally induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T|t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002103 biolink:NamedThing synapsed by Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. |Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002551 biolink:NamedThing has skeleton A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.|A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002451 biolink:NamedThing transmitted by A relationship that holds between a disease and organism|A relationship that holds between a disease and organism tmpte7i6ely_mondo_relaxed.owl RO:0002451|RO:0002451 transmitted_by|transmitted_by owl:ObjectProperty RO:0002572 biolink:NamedThing luminal space of s is luminal space of x iff s is lumen_of x and s is an immaterial entity|s is luminal space of x iff s is lumen_of x and s is an immaterial entity tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UMLS:C0085584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#disease_grouping biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl disease_grouping owl:AnnotationProperty ORPHA:141229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/infectious_disease_by_agent.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_disease biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl disease owl:AnnotationProperty MEDDRA:10040016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/inflammatory_disease_by_site.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402599005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23966000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:202882003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_malformation_syndrome biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl malformation syndrome owl:AnnotationProperty MESH:D009372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:453533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020616 biolink:NamedThing obsolete blood group, mn tmpte7i6ely_mondo_relaxed.owl Mnss Blood Group System|MN|Blood Group, Mnss System|Mns Blood Group Systed|BLOOD GROUP, MN|Mn Blood Group OMIM:111300 True owl:Class https://omim.org/entry/111300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C135090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#gard_rare biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GARD rare disease subset owl:AnnotationProperty OBO:mondo/patterns/cancer.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0853879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:po.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53648006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/specific_disease_by_dysfunctional_structure.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1298685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254771006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363452003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018396 biolink:NamedThing obsolete rare male fertility disorder with obstructive azoospermia tmpte7i6ely_mondo_relaxed.owl rare disorder due to impaired sperm transport|rare disorder with obstructive azoospermia MONDO:outOfScope UMLS:CN227342|Orphanet:399824 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class OBO:mondo#ordo_group_of_disorders biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl group of disorders owl:AnnotationProperty MESH:D018877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35304003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C127167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716585008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016768 biolink:NamedThing obsolete rare mucosal lichen planus tmpte7i6ely_mondo_relaxed.owl rare mucosal LP MONDO:outOfScope UMLS:CN226996|Orphanet:254373 ICD10:L43.2|ICD10:L43.3|ICD10:L43.8|ICD10:L43.9|ICD10:L43.1|ICD10:L43.0 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:254373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66214007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:401315004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#obsoletion_candidate biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl obsoletion candidate owl:AnnotationProperty https://omim.org/entry/226600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#predisposition biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Diseases that are pre-dispositions to other diseases owl:AnnotationProperty DOID:10873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:order biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:SubsetProperty biolink:NamedThing subset_property tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MEDDRA:10062506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C34368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/location.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399100005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25658005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21013006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77090002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17440005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/sparql/qc/general/qc-single-child.sparql biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_etiological_subtype biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl etiological subtype owl:AnnotationProperty https://omim.org/entry/234250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subfamily biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10009825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009654 biolink:NamedThing obsolete mucopolysaccharidoses, unclassified types tmpte7i6ely_mondo_relaxed.owl mucopolysaccharidoses, unclassified types out of scope OMIM:252700|MESH:C562442|UMLS:C0220752 MONDO:0019249 True owl:Class https://omim.org/entry/252700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1876175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:hp.obo#hposlim_core biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C36410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/idiopathic.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016507 biolink:NamedThing obsolete rare surgically correctable form of primary aldosteronism OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:231637|UMLS:CN226946 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:231637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198462004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702342007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:45448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29076005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88981003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95333004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:698247007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/syndromic.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193148004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018287 biolink:NamedThing obsolete congenital disorder of glycosylation with epilepsy as a major feature tmpte7i6ely_mondo_relaxed.owl CDG with epilepsy as a major feature MONDO:outOfScope Orphanet:371071 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class OBO:mondo/patterns/hereditary.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020138 biolink:NamedThing obsolete ataxia with dementia tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98538 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001251 Ataxia HP_0001251 True owl:Class UMLS:C4082167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020116 biolink:NamedThing obsolete rare blood coagulation disease OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare coagulation disorder|rare blood coagulation disease MONDO:0001531 Orphanet:98429 UMLS:C0005779 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4289817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/neoplasm.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238092004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255046005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_clinical_subtype biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl clinical subtype owl:AnnotationProperty MESH:C548077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/lipoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397016004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018501 biolink:NamedThing obsolete rare carcinoma of stomach OBSOLETE. Rare stomach carcinoma. tmpte7i6ely_mondo_relaxed.owl rare gastric carcinoma|rare stomach carcinoma MONDO:0004950 Orphanet:423771 UMLS:C0699791 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:423771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016233 biolink:NamedThing obsolete rare lymphatic system malformation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:211255|UMLS:CN200997 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:211255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25967007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_morphological_anomaly biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl morphological anomaly owl:AnnotationProperty MESH:D050798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015888 biolink:NamedThing obsolete other rare diabetes mellitus tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:181381|UMLS:CN226773 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/219050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:genus biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2717750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:597874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018530 biolink:NamedThing obsolete rare epithelial tumor of liver and intrahepatic biliary tract tmpte7i6ely_mondo_relaxed.owl rare epithelial tumor of liver and IBT MONDO:outOfScope UMLS:CN237535|Orphanet:424933 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:424933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019043 biolink:NamedThing obsolete rare genetic skin disease tmpte7i6ely_mondo_relaxed.owl rare genodermatosis MONDO:0005093 Orphanet:68346 UMLS:C0037277 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26132002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0027750 biolink:NamedThing obsolete serpinopathy with toxic serpin polymerization tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:250808 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy MONDO:0027749 True owl:Class ORPHA:250808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000666.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:392049002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C150556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398254007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/location_top.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:165985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33820001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254096001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/realized_in_response_to_environmental_exposure.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_histopathological_subtype biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl histopathological subtype owl:AnnotationProperty MESH:C566196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:29 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016766 biolink:NamedThing obsolete rare lichen planus OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis. tmpte7i6ely_mondo_relaxed.owl rare lichen planus|rare LP MONDO:0006572 Orphanet:254367|GARD:0012344 ICD10:L43.2|UMLS:C0023646|ICD10:L43.3|ICD10:L43.8|ICD10:L66.1|ICD10:L43.9|ICD10:L43.1|ICD10:L43.0 True https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://github.com/monarch-initiative/mondo/issues/4069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45812003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423294001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C130991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52186006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:47159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019704 biolink:NamedThing obsolete primary bone dysplasia with decreased bone density tmpte7i6ely_mondo_relaxed.owl primary skeletal dysplasia with decreased bone density|primary osteodysplasia with decreased bone density out of scope Orphanet:93446 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class ORPHA:2941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67144006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/adult.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4016301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27956007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C130992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715900001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12246008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/consequence_of_infectious_disease.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN696018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4269005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719207000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238401006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267395000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:species biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36813001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719466009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020253 biolink:NamedThing obsolete syndrome with a symptomatic strabismus tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN207072|Orphanet:98683 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class https://omim.org/phenotypicSeries/PS604370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80353004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/OMIM_phenotypic_series.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111209006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:362968007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016135 biolink:NamedThing obsolete rare hereditary neurologic disease with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:207025|UMLS:CN200899 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0279693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000804 biolink:NamedThing obsolete white shrimp allergy OBSOLETE. A allergy involving a Litopenaeus schmitti. tmpte7i6ely_mondo_relaxed.owl Litopenaeus schmitti allergic disease|Litopenaeus vannamei allergy|Litopenaeus schmitti caused allergic disease|allergy of Litopenaeus schmitti MONDO:outOfScope DOID:0060529 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126699008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3541340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019048 biolink:NamedThing obsolete rare vascular disease OBSOLETE. Any of the forms of vascular disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare vascular disease MONDO:0005385 Orphanet:68362 UMLS:C0042373 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254958004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230253001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24700007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277575008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733638006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235888006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24360007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN651335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020226 biolink:NamedThing obsolete chromosomal anomaly with cataract tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98642 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder' MONDO:0019040 True owl:Class DOID:8144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715826005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416956002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000008.11 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015501 biolink:NamedThing obsolete syndrome or malformation associated with head and neck malformations tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:156237|UMLS:CN199635 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True https://github.com/monarch-initiative/mondo/issues/324 owl:Class UMLS:C0268490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254588001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732263008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5619004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18624000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:family biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017166 biolink:NamedThing obsolete rare tumor of salivary glands tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:276142 UMLS:C0036095 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:0060807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2986655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1331532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68237008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72986009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/specific_inflammatory_disease_by_site.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015711 biolink:NamedThing obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:169443|ICD10:D80.6 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency predominantly affecting antibody production' MONDO:0015132 True owl:Class UMLS:CN227188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62918002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360369003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1368910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:84622004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:271425001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/chronic.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/sparql/qc/mondo/qc-omim-subsumption.sparql biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:kingdom biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020191 biolink:NamedThing obsolete eyebrow/eyelashes pigmentation anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98601 HP:0002226|HP:0002227 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:98601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020209 biolink:NamedThing obsolete rare hyperopia and astigmatism tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:98621|UMLS:CN227819 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class OBO:mondo/patterns/carcinoma_in_situ.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254176007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4510004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:66627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17866004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015669 biolink:NamedThing obsolete rare disease with dentinogenesis imperfecta tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:167762 UMLS:C0011436 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:167762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020034 biolink:NamedThing obsolete rare respiratory tract neoplasm OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare respiratory tract neoplasm|rare respiratory cancer|rare respiratory neoplasm|rare respiratory tumor MONDO:0020641 UMLS:CN206959|Orphanet:98060 UMLS:C0154131|UMLS:C0035244 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:715465001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:ncbitaxon.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/acquired.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C100093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715470008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:698249005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766751007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721094006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38280009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ECTO:9001021 biolink:NamedThing obsolete exposure to chlorine atom tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:281034005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015940 biolink:NamedThing obsolete rare rheumatologic disease OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare rheumatologic disorder|rare rheumatological disease MONDO:0005554 UMLS:CN200530|Orphanet:182231 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238836000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4023176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61808009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84002002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C8398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/specific_disease_by_disrupted_process.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69646003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67531005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4017065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19754005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87074006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716652006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123809005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764994007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/disrupts_process.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45431004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class IAO:0000227 biolink:NamedThing terms merged tmpte7i6ely_mondo_relaxed.owl An editor note should explain what were the merged terms and the reason for the merge. terms merged IAO:0000225 DOID:0110447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1264039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449731009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020104 biolink:NamedThing obsolete rare constitutional hemolytic anemia due to an enzyme disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227782|Orphanet:98369 Editor note: consider merging with parent ICD10:D55.0|ICD10:D55.1|ICD10:D55.3|ICD10:D55.9|ICD10:D55.8|ICD10:D55.2 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53772007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68566005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124178006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D021441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:356996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017976 biolink:NamedThing obsolete disorder of sex development of gynecological interest tmpte7i6ely_mondo_relaxed.owl DSD of gynecological interest UMLS:CN227237|Orphanet:325620 These terms are not used clinically. MONDO:0002145|MONDO:0001967 True owl:Class ORPHA:325620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8197001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187821001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017151 biolink:NamedThing obsolete pulmonary arterial hypertension associated with connective tissue disease OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. tmpte7i6ely_mondo_relaxed.owl PAH associated with connective tissue disease out of scope SCTID:697903007|UMLS:C3697982|Orphanet:275798|ICD9:416.8|UMLS:CN202578|ICD10:I27.2|EFO:0009196 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class SNOMEDCT:697903007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12454008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734016004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_clinical_syndrome biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl clinical syndrome owl:AnnotationProperty DOID:4855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:417065002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763204003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76069003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017661 biolink:NamedThing obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:307055|UMLS:CN203548 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN203548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#CL biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/phenotypicSeries/PS153840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187058000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:clade biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020028 biolink:NamedThing obsolete rare allergic respiratory disease OBSOLETE. Rare respiratory allergy. tmpte7i6ely_mondo_relaxed.owl rare respiratory allergy|rare allergic respiratory disease MONDO:0000771 Orphanet:98052|UMLS:C1504369 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/613603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS147060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D026681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31047003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715722003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3463897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191255003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763061004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:281097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C68677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69478001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:171131006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/rhabdomyosarcoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720860004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018041 biolink:NamedThing obsolete other immunodeficiency syndrome with predominantly antibody defects tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN204282|Orphanet:331244 Editor note: consider merging ICD10:D80.8 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D005094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4755316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61071003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:phylum biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719377004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236398000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1883694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29618004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019709 biolink:NamedThing obsolete cleidocranial dysplasia and isolated cranial ossification defect tmpte7i6ely_mondo_relaxed.owl Orphanet:93451 True owl:Class https://omim.org/entry/615207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408539000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019252 biolink:NamedThing obsolete other metabolic disease with skin involvement tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205838|Orphanet:79217 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/619185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609578001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C167409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C3554690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N439347d2c2de4097ad7ac1e30803c1f8 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N9298200cafe34b5393c67008f56add83 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Ncea0fc615ed941d58ba0ea2f23b10eee biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Nbe778bf7c924464d9b7a8ae9d1d1d806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N85aed10f3f5c46c6990f0b54f152b89f biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Nba936600507c430395cd6f96a034fe31 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Nda94e0927a2a432db224e2d76420c74a biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Naab9225a0c4440b59115f3d2f55695c1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N00e394f4895c44df8cda31a993534669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N61b7548be94c4eddb1d6a9a8673f3050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N93b3010634e6439e9847caac3c6cb703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/basis_in_disruption_of_process.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39429002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1644196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019700 biolink:NamedThing obsolete primary bone dysplasia with multiple joint dislocations tmpte7i6ely_mondo_relaxed.owl primary osteodysplasia with multiple joint dislocations|primary skeletal dysplasia with multiple joint dislocations out of scope Orphanet:93441 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class DOID:5339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2827360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95767006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024505 biolink:NamedThing obsolete disorder by anatomical region OBSOLETE. A broad grouping of diseases based on major body subdivisions. tmpte7i6ely_mondo_relaxed.owl disorder of organism subdivision|disorder by body site|disorder of anatomical|disease of organism subdivision|disease by body site out of scope SCTID:123946008|UMLS:C1290853 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class OBO:mondo#metaclass biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl A grouping of disease classes. Should be excluded from analysis owl:AnnotationProperty https://omim.org/entry/600131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79118000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/303700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732261005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:120639003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1292773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018753 biolink:NamedThing obsolete rare disease with malignant hyperthermia tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:466658|UMLS:CN242072 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:466658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34840004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:285657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:103917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92065004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7125002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763895001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717184007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266361008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019703 biolink:NamedThing obsolete primary bone dysplasia with increased bone density tmpte7i6ely_mondo_relaxed.owl primary skeletal dysplasia with increased bone density|sclerosing bone dysplasia|primary osteodysplasia with increased bone density out of scope Orphanet:93444|UMLS:CN043667 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class DOID:334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016517 biolink:NamedThing obsolete rare genetic vascular disease OBSOLETE. Rare genetic vascular disease. tmpte7i6ely_mondo_relaxed.owl rare genetic vascular disease MONDO:0005385 UMLS:CN201558|Orphanet:233655 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3495555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019300 biolink:NamedThing obsolete rare skin tumor or hamartoma tmpte7i6ely_mondo_relaxed.owl UMLS:CN205934|Orphanet:79386 True owl:Class NCIT:C6514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403936002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:440214006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0746787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53226007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40315008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10035718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398530003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0112200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21061004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020228 biolink:NamedThing obsolete cataract associated with a metabolic disease tmpte7i6ely_mondo_relaxed.owl metabolic disease with cataract out of scope UMLS:CN207056|Orphanet:98644 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic cataract' MONDO:0020225 True owl:Class MESH:D056769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015119 biolink:NamedThing obsolete bronchopulmonary tumor tmpte7i6ely_mondo_relaxed.owl rare bronchopulmonary tumor out of scope Orphanet:101945|UMLS:CN197476 MONDO:0020641 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class DOID:0070077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015616 biolink:NamedThing obsolete rare genetic intestinal disease tmpte7i6ely_mondo_relaxed.owl genetic intestinal disease MONDO:0005020 Orphanet:165655|UMLS:CN199992 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009427 biolink:NamedThing obsolete infantile hypophosphatasia OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. tmpte7i6ely_mondo_relaxed.owl obsolete infantile hypophosphatasia|infantile phosphoethanolaminuria|HOPS|hypophosphatasia, infantile|infantile Rathburn disease|hypophosphatasia, perinatal lethal out of scope DOID:0110914|Orphanet:247651|Orphanet:436|UMLS:C2673477|SCTID:55236002|OMIM:241500|ICD10:E83.3|Orphanet:247623|UMLS:C0268412 http://purl.obolibrary.org/obo/MONDO_0600011|http://purl.obolibrary.org/obo/MONDO_0600010|http://purl.obolibrary.org/obo/MONDO_0600009 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class SNOMEDCT:55236002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6183001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subclass biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0239849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10026817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233919006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312381009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21926007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000799 biolink:NamedThing obsolete crustacean allergy OBSOLETE. A allergic disease involving a crustacean food product. tmpte7i6ely_mondo_relaxed.owl crustacean food product allergic disease|allergy of crustacean food product MONDO:outOfScope DOID:0060524 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016181 biolink:NamedThing obsolete solid tumor associated with an acquired peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200931|Orphanet:209019 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neoplasm MONDO:0005070 True owl:Class UMLS:C0020433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75238000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:356947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766710005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253149002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111504002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722378009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126882009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN757794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87730004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/508879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000911 biolink:NamedThing obsolete dilated cardiomyopathy 1T OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene. tmpte7i6ely_mondo_relaxed.owl dilated cardiomyopathy type 1T|familial isolated dilated cardiomyopathy caused by mutation in TMPO|cardiomyopathy, dilated, type 1T|TMPO familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1T|moved to 115200|CMD1T OMIM:613740|MESH:C566052|UMLS:C3151039|DOID:0110452 OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists. True https://github.com/monarch-initiative/mondo/issues/1675 owl:Class DOID:0110452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0010045 biolink:NamedThing obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. tmpte7i6ely_mondo_relaxed.owl FITZSIMMONS-Guilbert syndrome|Fitzsimmons-Guilbert syndrome|moved to 270550, 190350, and 616944|Fitzsimmons syndrome|spastic paraplegia associated with brachydactyly type E GARD:0002343|MESH:C537938|ICD10:G82.1|Orphanet:2823|UMLS:C0795942|OMIM:270710 Obsolete in OMIM and Orphanet. MONDO:0008596|MONDO:0010041|MONDO:0014842 True https://github.com/monarch-initiative/mondo/issues/1686 owl:Class https://omim.org/entry/270710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26029002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38539003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84758004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711164003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018231 biolink:NamedThing obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments tmpte7i6ely_mondo_relaxed.owl primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments out of scope Orphanet:364531 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class UMLS:C2018777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254065005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92473001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:92050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92068002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C147072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126972009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1627365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/carcinoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1261567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/squamous_cell_carcinoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/environmental_stimulus.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020008 biolink:NamedThing obsolete rare immune disease OBSOLETE. Rare immune system disease. tmpte7i6ely_mondo_relaxed.owl rare immune system disease MONDO:0005046 UMLS:CN206942|Orphanet:98004 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:73103007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4049241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60113004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88037009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717337001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720981000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2932717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424795008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2711059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1442903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10040868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124331002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31437008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49949003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766246000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:563581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231479000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58275005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS233400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87049008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82725007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64852002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:536532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230283005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3872848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1565489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018792 biolink:NamedThing obsolete Moyamoya syndrome tmpte7i6ely_mondo_relaxed.owl rare disorder with a Moyamoya angiopathy Orphanet:477771|UMLS:CN776904 Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy. MONDO:0016820 True https://github.com/monarch-initiative/mondo/issues/1767 owl:Class SNOMEDCT:30171000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:0110417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/neuroendocrine_neoplasm.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0012374 biolink:NamedThing obsolete Abnormal globe morphology tmpte7i6ely_mondo_relaxed.owl HP:0012372 True human_phenotype owl:Class UMLS:CN169366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/autosomal_dominant.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238001003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017797 biolink:NamedThing obsolete rare odontologic tumor OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare odontogenic neoplasm|rare odontogenic tumor MONDO:0021192 Orphanet:314425|UMLS:CN203756 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/151001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#prototype_pattern biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149 owl:AnnotationProperty https://omim.org/entry/118450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018722 biolink:NamedThing obsolete primary lymphedema with associated anomalies tmpte7i6ely_mondo_relaxed.owl Orphanet:458841 True owl:Class UMLS:C0345985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22240003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763683004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447782002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0863024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/benign_neoplasm.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84438001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30188007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:class biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723453002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725048002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719275009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/specific_infectious_disease_by_location.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015875 biolink:NamedThing obsolete rare non-malformative uterine adnexal disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200481|Orphanet:180303 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:0111130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47812002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10040664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/140350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0585216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:600009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2697933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/lymphoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#historic_epidemic biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl classes representing a historic epidemic owl:AnnotationProperty UMLS:C1858591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0344058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703526007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:uberon.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015889 biolink:NamedThing obsolete rare hypothalamic or pituitary disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:181384|UMLS:CN200503 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:79347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50438001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91514001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:164004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:110310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:26169004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763619009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25674000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60389000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000991 biolink:NamedThing obsolete left bundle branch block OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed. tmpte7i6ely_mondo_relaxed.owl left bundle branch [block] or [hemiblock]|left bundle branch hemiblock DOID:10272|ICD9:426.2|SCTID:63467002|SCTID:4973001|UMLS:C0155702|ICD10:I44.60 HP:0011713 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class UMLS:C0155702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017996 biolink:NamedThing obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:329255|UMLS:CN204202 Obsolete in Orphanet MONDO:0009485 True owl:Class UMLS:CN204202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000122 biolink:NamedThing ready for release Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release." tmpte7i6ely_mondo_relaxed.owl ready for release IAO:0000078 UMLS:C0004576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111936002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254049009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66937008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044259 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 2 OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action. tmpte7i6ely_mondo_relaxed.owl skin/hair/eye pigmentation, variation IN, 2|hair color 2|UV-induced skin damage, susceptibility to|SHEP2|Rha|Red hair color|Blond hair/fair skin OMIM:266300 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/266300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449826002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011794 biolink:NamedThing obsolete Dravet syndrome OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. tmpte7i6ely_mondo_relaxed.owl MONDO:0100135 Orphanet:33069|OMIM:615744|OMIM:612164|ICD10:G40.4 This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 True owl:Class ORPHA:33069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71676008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019684 biolink:NamedThing obsolete rare bone disease OBSOLETE. Rare bone disease. tmpte7i6ely_mondo_relaxed.owl rare bone disease MONDO:0005381 UMLS:CN206613|Orphanet:93419 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:538101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018699 biolink:NamedThing obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy tmpte7i6ely_mondo_relaxed.owl Orphanet:457059 True owl:Class SNOMEDCT:372098004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:405809000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37272000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020223 biolink:NamedThing obsolete lens and zonula anomaly tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:98639 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class OBO:mondo#implicit_genetic_in_ordo biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl in ORDO this is classified as genetic even though the class is used for non-genetic disorders owl:AnnotationProperty https://omim.org/entry/618347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012560 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated, 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0011888 OMIM:610799 Obsolete in OMIM. True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class https://omim.org/entry/610799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000119 biolink:NamedThing definition source Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007 tmpte7i6ely_mondo_relaxed.owl Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w|GROUP:OBI: definition source PERSON:Daniel Schober owl:AnnotationProperty https://omim.org/entry/616040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:422519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763597000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2212024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/benign.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015513 biolink:NamedThing obsolete rare genetic endocrine disease OBSOLETE. A form of endocrine system disease that is both rare and inborn. tmpte7i6ely_mondo_relaxed.owl rare genetic endocrine system disease MONDO:0005151 UMLS:CN199645|Orphanet:156638 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10061476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43064006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016399 biolink:NamedThing obsolete amino acid or protein metabolism disease with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN201330|Orphanet:225689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class UMLS:CN201330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10394003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404082003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721883006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019590 biolink:NamedThing obsolete rare endocrine growth disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206437|Orphanet:90692 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:90692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69322001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715535009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69488000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45030009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19272000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0000833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126736007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92612007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018488 biolink:NamedThing obsolete rare genetic odontal or periodontal disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN237489|Orphanet:420755 May be obsoleted. The semantics of the ORDO class are not clear True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN237489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404633004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10741005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#clingen biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl initial subset used by clingen owl:AnnotationProperty MONDO:0018299 biolink:NamedThing obsolete sphingolipidosis with epilepsy tmpte7i6ely_mondo_relaxed.owl Orphanet:371442 True owl:Class DOID:14006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41021005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015618 biolink:NamedThing obsolete genetic pancreatic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0002356 UMLS:CN199994|Orphanet:165661 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:211062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018157 biolink:NamedThing obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis tmpte7i6ely_mondo_relaxed.owl combined OXPHOS defect|combined oxidative phosphorylation defect|COXPD|combined OXPHOS deficiency out of scope Orphanet:35696|ICD10:E88.8|UMLS:CN227273 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class ORPHA:35696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398049005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373643003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314429009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424279009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4509932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D044905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190808009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254705003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29609001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018557 biolink:NamedThing obsolete rare genetic autonomic nervous system disorder OBSOLETE. Rare genetic autonomic nervous system disease. tmpte7i6ely_mondo_relaxed.owl rare genetic autonomic nervous system disease MONDO:0001292 Orphanet:434786|UMLS:CN237558 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C62591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702343002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111030006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28599006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subspecies biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/149100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016327 biolink:NamedThing obsolete mitochondrial disease with hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217587|UMLS:CN201160 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class ORPHA:217587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418304008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59394009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2355576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:430888006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732250002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4062006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63127008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443928008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:556955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS191830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129103003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715951007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127013003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205468002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/melanoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016252 biolink:NamedThing obsolete rare uterine cancer OBSOLETE. Rare uterine cancer. tmpte7i6ely_mondo_relaxed.owl rare uterine malignant tumor|rare malignant tumor of uterus|rare cancer of uterus|rare uterine cancer MONDO:0002715 Orphanet:213564 UMLS:C0153567 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C535460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4284093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016328 biolink:NamedThing obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217591|UMLS:CN226902 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis' MONDO:0017713 True owl:Class ORPHA:217591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254066006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65363002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230421008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019274 biolink:NamedThing obsolete other epidermal disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:79359|UMLS:CN227609 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:79359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017899 biolink:NamedThing obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). tmpte7i6ely_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant|autosomal dominant MSMD due to a partial deficiency out of scope Orphanet:319543|UMLS:CN203955|ICD10:D84.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' MONDO:0020573 True owl:Class https://github.com/monarch-initiative/mondo/issues/3886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018652 biolink:NamedThing obsolete biological anomaly without phenotypic characterization tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:447874 This is a biological anomaly and not a disease. True owl:Class https://github.com/monarch-initiative/mondo/issues/181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:478042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0685838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204378009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C137959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D051677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015136 biolink:NamedThing obsolete immunodeficiency due to a genetic complement cascade protein anomaly tmpte7i6ely_mondo_relaxed.owl immunodeficiency due to a complement cascade protein anomaly out of scope Orphanet:101992|ICD10:D84.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' MONDO:0003778 True owl:Class ORPHA:538934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#harrisons_view biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl harrisons_view owl:AnnotationProperty MESH:D002544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44779003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019305 biolink:NamedThing obsolete immune deficiency with skin involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:79391 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immune system disease' MONDO:0005046 True owl:Class ORPHA:79391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016397 biolink:NamedThing obsolete lysosomal disease with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:225681|UMLS:CN201328 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' MONDO:0002561 True owl:Class ORPHA:225681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015336 biolink:NamedThing obsolete malformation syndrome with odontal and/or periodontal component tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN199366|Orphanet:139042 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' MONDO:0019755 True owl:Class SNOMEDCT:721840000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234576008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:445018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26111005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020266 biolink:NamedThing obsolete genodermatosis with ocular features tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98696 Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo. Term to consider: skin disease' MONDO:0005093 True owl:Class MESH:D010284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017273 biolink:NamedThing obsolete autosomal ichthyosis syndrome with fatal disease course tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:281241|UMLS:CN202794 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' MONDO:0015947 True owl:Class UMLS:CN202794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188204000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716238003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123973009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15250008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017120 biolink:NamedThing obsolete other syndrome with a central nervous system malformation as major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:269531|UMLS:CN202470 Editor note: consider deleting all 'other' terms True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/610896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C63324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768935003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24693007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253006001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192673008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27718001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020038 biolink:NamedThing obsolete gonadal dysgenesis of gynecological interest tmpte7i6ely_mondo_relaxed.owl Orphanet:98074 These terms are not used clinically. MONDO:0001967|MONDO:0002145 True owl:Class ORPHA:98074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0494040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:165805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0728951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65880007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:565837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22949006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017159 biolink:NamedThing obsolete syndrome with pulmonary hypertension as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN202581|Orphanet:275853 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class NCIT:C50521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:serotype biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721798004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763279007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78511005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007798 biolink:NamedThing obsolete adult hypophosphatasia OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. tmpte7i6ely_mondo_relaxed.owl adult Rathburn disease|mild hypophosphatasia|adult phosphoethanolaminuria|hypophosphatasia, mild|odontohypophosphatasia|hypophosphatasia of adults|hypophosphatasia, ADULT|obsolete adult hypophosphatasia out of scope ICD10:E83.3|SCTID:20756002|UMLS:C1840322|Orphanet:247676|Orphanet:247685|UMLS:C0268413|Orphanet:436|OMIM:146300|DOID:0110913 MONDO:0600010|MONDO:0600009|MONDO:0600011 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class UMLS:C0268413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44917000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016253 biolink:NamedThing obsolete rare cancer of corpus uteri tmpte7i6ely_mondo_relaxed.owl rare malignant tumor of corpus uteri MONDO:0004992 Orphanet:213569 UMLS:C0153574 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74732009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194437008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4075997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:superfamily biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277644009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D040181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019041 biolink:NamedThing obsolete rare genetic inherited tumor tmpte7i6ely_mondo_relaxed.owl rare genetic tumor MONDO:0005070 UMLS:CN205525|Orphanet:68336 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C26705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017024 biolink:NamedThing obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease tmpte7i6ely_mondo_relaxed.owl secondary ILD specific to childhood associated with a metabolic disease out of scope Orphanet:264719|UMLS:CN202337 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class MESH:C567418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302162004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449156009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191390009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194005002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20957000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31611000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015328 biolink:NamedThing obsolete rare bone development disorder OBSOLETE. Any of the forms of bone development disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare skeletal development disorder|rare bone development disease|bone development disorder MONDO:0005497 Orphanet:139012|NCIT:C34432 UMLS:C0005941 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C34432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020613 biolink:NamedThing obsolete blood group--lke tmpte7i6ely_mondo_relaxed.owl LKE|BLOOD GROUP--LKE|Blood Group--Luke|Blood Group--Luke, Formerly OMIM:111130 True owl:Class https://omim.org/entry/111130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009535 biolink:NamedThing obsolete lymphedema, congenital recessive tmpte7i6ely_mondo_relaxed.owl lymphedema, congenital recessive out of scope Orphanet:79452|UMLS:C1855475|OMIM:247440|MESH:C565432 Obsoleted in OMIM. MONDO:0007919 True owl:Class https://omim.org/entry/247440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/vectorBorneDisease.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721015008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68870007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020207 biolink:NamedThing obsolete rare isolated myopia OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. tmpte7i6ely_mondo_relaxed.owl MONDO:0001384 UMLS:CN924920|Orphanet:98619 OMIM:608908|UMLS:C0027092|OMIM:615431|OMIM:614292 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0563238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197821004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721875000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/164700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400954002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716097001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238949006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718095000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020251 biolink:NamedThing obsolete rare strabismus and restriction syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207070|Orphanet:98681 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN207070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:87876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13394002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34042008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017083 biolink:NamedThing obsolete lipoma associated with neurospinal dysraphism tmpte7i6ely_mondo_relaxed.owl Orphanet:268832 True owl:Class ORPHA:268832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254644003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724177005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715780008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19886006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254022009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:D014253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443265004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/primary_infectious.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719139003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0748540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716199000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1257958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016337 biolink:NamedThing obsolete syndrome associated with dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217619|UMLS:CN201167 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True https://github.com/monarch-initiative/mondo/issues/324 owl:Class ORPHA:99745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235594008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84245004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D048090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78875003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:216975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:428850001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3273942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/childhood.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C70428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1533628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371015003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C80303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19824006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35546006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719576009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764500002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:98723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:37 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768667002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57920007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78586005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015076 biolink:NamedThing obsolete rare parathyroid tumor OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare tumor of parathyroid gland MONDO:0021360 Orphanet:100090 UMLS:C0030521|ICD10:C75.0|ICD10:D44.2|ICD10:D35.1 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:1880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0241910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018392 biolink:NamedThing obsolete male infertility with spermatogenesis disorder due to single gene mutation tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:399786|UMLS:CN227340|ICD10:N46|GARD:0012513 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation owl:Class MONDO:0016325 biolink:NamedThing obsolete glycogen storage disease with hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl glycogenosis with hypertrophic cardiomyopathy|GSD with hypertrophic cardiomyopathy out of scope ICD10:E74.0|Orphanet:217572|UMLS:CN201158 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' MONDO:0002412 True owl:Class NCIT:C3518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020016 biolink:NamedThing obsolete rare neurologic disease with psychiatric involvement tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:98033|UMLS:CN206949 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0037275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715666007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763796007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020005 biolink:NamedThing obsolete rare endocrine disease OBSOLETE. Rare endocrine system disease. tmpte7i6ely_mondo_relaxed.owl rare endocrine system disease MONDO:0005151 Orphanet:97978|UMLS:CN206938 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1274753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715568002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/557000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_clinical_situation biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl particular clinical situation in a disease or syndrome owl:AnnotationProperty OBO:mondo/patterns/autosomal_recessive.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:82 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93143009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN069618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50570003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27837003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702356009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716685003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69254008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:271793004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764437006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0872084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0936282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111488004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:cl#added_for_HCA biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:98494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53664003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719582007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75096007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52403007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Citrus biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0151332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717826009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019965 biolink:NamedThing obsolete rare benign ovarian tumor OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare ovarian benign neoplasm MONDO:0000646 Orphanet:97293 UMLS:C0004997 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399505005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55735004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/152700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4288035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36171008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240095001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719519007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278065000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:envo.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10055206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019596 biolink:NamedThing obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect tmpte7i6ely_mondo_relaxed.owl 46,XY DSD due to testicular steroidogenesis defect out of scope UMLS:CN227658|Orphanet:90787|ICD10:E29.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class ORPHA:90787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015656 biolink:NamedThing obsolete metabolic disease with epilepsy tmpte7i6ely_mondo_relaxed.owl metabolic diseases with epilepsy out of scope UMLS:C1299598|Orphanet:166481 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class UMLS:C1299598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015106 biolink:NamedThing obsolete rare urogenital disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 Orphanet:101433|UMLS:CN197464 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:59455009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018790 biolink:NamedThing obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy tmpte7i6ely_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy out of scope Orphanet:477765|UMLS:CN776855 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO:0018788 True owl:Class ORPHA:3385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010086 biolink:NamedThing obsolete sudden infant death syndrome OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. tmpte7i6ely_mondo_relaxed.owl sudden infant death syndrome|Crib death (context-dependent category)|crib death|sudden infant death syndrome (context-dependent category)|sudden death of nonspecific cause in infancy|Sids|sudden infant death syndrome (finding)|cot death|SIDS|sudden infant death syndrome NOS (context-dependent category)|cot death (context-dependent category) SCTID:51178009|OMIM:272120|NCIT:C85173|ICD9:798.0|EFO:0005303|MESH:D013398|GARD:0007711|ICD10:R95|UMLS:C0038644|MedDRA:10042439|DOID:9007 This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown. True https://github.com/monarch-initiative/mondo/issues/2759|https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome owl:Class https://omim.org/entry/272120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:432328008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000747 biolink:NamedThing obsolete umbilical hernia OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. tmpte7i6ely_mondo_relaxed.owl NCIT:C118375|ICD9:553.1|ICD10:Q79.2|MESH:D006554|HP:0001537|DOID:0060321|ICD9:756.72|SCTID:396347007|UMLS:C0019322 Represents finding. HP:0001537 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class UMLS:C0019322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4602007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0112197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018598 biolink:NamedThing obsolete neonatal adrenoleukodystrophy OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). tmpte7i6ely_mondo_relaxed.owl NALD|adrenoleukodystrophy autosomal neonatal form out of scope ICD10:E71.511|OMIM:202370|Orphanet:44|OMIM:266510|OMIM:601539|OMIM:614863|OMIM:614873|UMLS:C0282525|SCTID:238061001|NCIT:C99251|OMIM:614871|OMIM:614885|ICD10:E71.3|OMIM:614920|OMIM:614867|OMIM:614877|GARD:0000559 MONDO:0019609 True https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy|https://github.com/monarch-initiative/mondo/issues/3222 owl:Class SNOMEDCT:703533007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015115 biolink:NamedThing obsolete rare genetic metabolic liver disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005066 Orphanet:101940|UMLS:C0851734 MedDRA:10019689 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0851734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS235510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C19988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764518004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN895591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0685201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4302508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:499182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766249007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719268008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:590539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126805009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254794007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733473000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0524799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237980004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719661007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57119000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:88991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1168225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127055007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:pato.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019519 biolink:NamedThing obsolete rare skin disease OBSOLETE. Rare skin disease. tmpte7i6ely_mondo_relaxed.owl rare skin disease MONDO:0005093 Orphanet:89826|UMLS:CN206332 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:274152003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415561000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:275322007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236478009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/autoimmune.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:255241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/246500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C93040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763346009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400096001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016326 biolink:NamedThing obsolete lysosomal disease with hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217581|UMLS:CN201159 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' MONDO:0002561 True owl:Class UMLS:C1443900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92165001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234587000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4478372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0008434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0852937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41291007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81285006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0750071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234584007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017371 biolink:NamedThing obsolete rare head and neck tumor OBSOLETE. Rare head and neck neoplasia. tmpte7i6ely_mondo_relaxed.owl rare head and neck neoplasm|rare head and neck neoplasia MONDO:0005586 Orphanet:290849 UMLS:C0018671 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D005058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN510468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39179006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0269194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312133006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015577 biolink:NamedThing obsolete rare parasitic disease OBSOLETE. Any of the forms of parasitic infection that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare parasitic infectious disease|rare parasitic infection MONDO:0005135 UMLS:CN199940|Orphanet:163588 UMLS:C0030499|UMLS:C0747256 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0017897 biolink:NamedThing obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. tmpte7i6ely_mondo_relaxed.owl autosomal recessive MSMD due to a complete deficiency|mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive out of scope ICD10:D84.8|Orphanet:319535|UMLS:CN203953 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' MONDO:0020573 True owl:Class SNOMEDCT:445227008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276836002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77553008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447781009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS606215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/240200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:555877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:270492004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124646004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D029424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191507002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765212008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24629003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363456000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11314008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37832003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/112450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012148 biolink:NamedThing obsolete drug metabolism, poor, CYP2D6-related tmpte7i6ely_mondo_relaxed.owl debrisoquine, ultrarapid metabolism of|drug metabolism, ultrarapid, CYP2D6-related|codeine, ultrarapid metabolism of|sparteine, poor metabolism of|nortriptyline, poor metabolism of|drug metabolism, poor, CYP2D6-related|debrisoquine, poor metabolism of OMIM:608902|UMLS:C1837154|MESH:C563835|EFO:0009161 True owl:Class https://omim.org/entry/608902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:99861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56604005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765484001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C135726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80327007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720748007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718774001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000789 biolink:NamedThing obsolete Atlantic cod allergy OBSOLETE. A allergy involving a Gadus morhua. tmpte7i6ely_mondo_relaxed.owl allergy of Gadus morhua|Gadus morhua fish allergy|Gadus morhua allergic disease|Gadus morhua caused allergic disease MONDO:outOfScope DOID:0060514 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS606777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721779001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74969002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020011 biolink:NamedThing obsolete rare headache disorder OBSOLETE. Rare headache disorder. tmpte7i6ely_mondo_relaxed.owl rare headache|rare headache disorder MONDO:0021146 Orphanet:98022 UMLS:C0393735 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C564516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS254130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230228004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732948003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2347126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733422008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18347007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763864008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721148005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118610003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51105006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764619001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10004213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266108008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015657 biolink:NamedThing obsolete inflammatory and autoimmune disease with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200066|Orphanet:166484 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease' and 'autoimmune disease'. MONDO:0007179|MONDO:0021166 True owl:Class ORPHA:166484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719166003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS118220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238044004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54203008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:396331005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278532000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016637 biolink:NamedThing obsolete thrombotic disorder due to an acquired platelet anomaly tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226987|Orphanet:248404 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0345905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016274 biolink:NamedThing obsolete rare cancer of cervix uteri OBSOLETE. Rare cervical cancer. tmpte7i6ely_mondo_relaxed.owl rare malignant tumor of cervix uteri|rare cervical cancer|rare cervical malignant tumor MONDO:0002974 Orphanet:213761|UMLS:CN201063 UMLS:C0007847|UMLS:C0302592 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0110441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:530838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:211240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416377005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204667006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111939009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0043606 biolink:NamedThing obsolete pathologic fracture OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process. tmpte7i6ely_mondo_relaxed.owl fractures, pathological|spontaneous fractures|pathologic fractures|fracture, pathological|spontaneous fracture|fractures, pathologic|pathological fractures|fracture, pathologic|pathologic fracture|fracture, spontaneous|pathological fracture HP:0002756 SCTID:268029009|NCIT:C3047|MESH:D005598 This was obsoleted because it is a phenotype and not a disease. True https://github.com/monarch-initiative/mondo/issues/499 owl:Class MESH:D005598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020137 biolink:NamedThing obsolete frontotemporal degeneration with dementia tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98535|ICD10:G31.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' MONDO:0005559 True owl:Class ORPHA:98535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS213600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS184255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:dron.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015885 biolink:NamedThing obsolete rare insulin-resistance syndrome OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. tmpte7i6ely_mondo_relaxed.owl insulin Resistance syndrome MONDO:outOfScope UMLS:C3714619|Orphanet:181368|NCIT:C113169 Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:372095001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126905005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000115 biolink:NamedThing definition The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. tmpte7i6ely_mondo_relaxed.owl GROUP:OBI: 2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with. definition PERSON:Daniel Schober owl:AnnotationProperty UMLS:C1968717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:227786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37796009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11806006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015108 biolink:NamedThing obsolete rare non-syndromic intellectual disability OBSOLETE. Rare non-syndromic intellectual disability. tmpte7i6ely_mondo_relaxed.owl rare intellectual disability without developmental anomaly|rare non-syndromic intellectual disability|rare non-syndromic intellectual deficiency|rare NSID MONDO:0000509 UMLS:CN226598|GARD:0012633|Orphanet:101685 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0016136 biolink:NamedThing obsolete cerebellar ataxia with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:207028|ICD10:G60.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebellar ataxia' MONDO:0000437 True owl:Class NCBITaxon:infraorder biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/hemangioma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS242860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C16522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48631008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004167 biolink:NamedThing obsolete lung clear cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0024386 DOID:7267|UMLS:C0345959|SCTID:254630009 True owl:Class DOID:7267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702575003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1378050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:304737009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017017 biolink:NamedThing obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder tmpte7i6ely_mondo_relaxed.owl primary ILD specific to childhood due to alveolar vascular disorder out of scope Orphanet:264683|UMLS:CN202329 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class ORPHA:264683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1704272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044233 biolink:NamedThing obsolete hair whorl tmpte7i6ely_mondo_relaxed.owl hair whorl|Double hair whorl|Cowlick OMIM:139400 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/139400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016133 biolink:NamedThing obsolete rare hereditary metabolic disease with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200897|Orphanet:207018 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:45864009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404081005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733601006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0553580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:585956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015825 biolink:NamedThing obsolete obesity due to congenital leptin resistance tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:E66.8|Orphanet:179490 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: genetic non-syndromic obesity' MONDO:0020075 True owl:Class DOID:1838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10597006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399955009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418040002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73774007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:241774007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044216 biolink:NamedThing obsolete artichoke, modification of taste by tmpte7i6ely_mondo_relaxed.owl artichoke, modification of taste by OMIM:108320 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/108320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22066006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS190350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197614002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:4024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN118840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:421182009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/540779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35962006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38371006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10004251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020182 biolink:NamedThing obsolete palpebral tumor with a vascular malformation tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98592|UMLS:CN207042 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: eyelid neoplasm' MONDO:0002235 True owl:Class UMLS:CN207042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/inherited_susceptibility.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016232 biolink:NamedThing obsolete rare venous malformation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:211252 Editor note: check this ICD10:Q27.8|UMLS:C2937220|UMLS:C0265950|MedDRA:10025532 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0862878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2959445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN032731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763776004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9741000119101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6141006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015906 biolink:NamedThing obsolete rare disorder with hypergonadotropic hypogonadism tmpte7i6ely_mondo_relaxed.owl rare disorder with primary hypogonadism MONDO:0000001 UMLS:CN226785|Orphanet:181441 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D010145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3501848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C103968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2053820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ECTO:9000266 biolink:NamedThing obsolete chemical entity exposure tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:232049001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73098005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:NCBITaxon#_species_group biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10004485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017458 biolink:NamedThing obsolete postaxial polydactyly of toes tmpte7i6ely_mondo_relaxed.owl postaxial polydactyly of foot ICD10:Q69.2|GARD:0012770|SCTID:205133005|Orphanet:295008 Obsolete in Orphanet MONDO:0011348 True owl:Class SNOMEDCT:205133005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10035079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016314 biolink:NamedThing obsolete rare carcinoma of pancreas OBSOLETE. Rare pancreatic carcinoma. tmpte7i6ely_mondo_relaxed.owl rare pancreatic carcinoma|rare exocrine pancreatic carcinoma MONDO:0005192 UMLS:CN201130|Orphanet:217074 MedDRA:10033609|MESH:D010190|UMLS:C0346647|UMLS:C0235974|MedDRA:10033604 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN201130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766813000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:525731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020141 biolink:NamedThing obsolete infectious disease with dementia tmpte7i6ely_mondo_relaxed.owl Orphanet:98542|UMLS:CN207022 Dementia should be a feature, not a superclass. MONDO:0005550 True https://github.com/monarch-initiative/mondo/issues/1954 owl:Class ORPHA:98542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/susceptibility_by_gene.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445738007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN753759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75053002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1739111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN032230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733116005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2019443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764459008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50821009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#ordo_inheritance_inconsistent biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 owl:AnnotationProperty UMLS:C1335504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:56044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4505102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254622008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400154003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3642345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/140850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231930000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019710 biolink:NamedThing obsolete dysostosis with predominant craniofacial involvement tmpte7i6ely_mondo_relaxed.owl Orphanet:93453 True owl:Class SNOMEDCT:36591000119102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020014 biolink:NamedThing obsolete rare disease with odontological manifestation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206947|Orphanet:98027 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/612098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MEDDRA:10061031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230282000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015709 biolink:NamedThing obsolete immunodeficiency syndrome with autoimmunity tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200213|Orphanet:169355 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease' MONDO:0021094 True owl:Class ORPHA:169355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020015 biolink:NamedThing obsolete rare circulatory system disease OBSOLETE. A rare form of cardiovascular disease. tmpte7i6ely_mondo_relaxed.owl rare cardiovascular disease MONDO:0004995 Orphanet:98028|UMLS:CN206948 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class OBO:mondo/patterns/meningioma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C127058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/141000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/192800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26409005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1318533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017142 biolink:NamedThing obsolete hemorrhagic disorder due to a qualitative platelet defect tmpte7i6ely_mondo_relaxed.owl rare hemorrhagic disorder due to a constitutional thrombopathy|rare coagulopathy due to a qualitative platelet defect|rare bleeding disorder due to a qualitative platelet defect|rare bleeding disorder due to a constitutional thrombopathy|rare hemorrhagic disorder due to a qualitative platelet defect|rare coagulopathy due to a constitutional thrombopathy MONDO:outOfScope UMLS:CN227099|Orphanet:275736 ICD10:D69.8 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:3405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707374005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238640007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233763009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015578 biolink:NamedThing obsolete rare mycosis OBSOLETE. Rare fungal infectious disease. tmpte7i6ely_mondo_relaxed.owl rare fungal infectious disease MONDO:0002041 Orphanet:163591 UMLS:C0026946 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:357329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399326009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363398003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722451006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711543008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015960 biolink:NamedThing obsolete rare genetic developmental defect during embryogenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0021147 Orphanet:183530|UMLS:CN226804 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://github.com/monarch-initiative/mondo/issues/4143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88157006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92296004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255088001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41962002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007778 biolink:NamedThing obsolete hypertelorism OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). tmpte7i6ely_mondo_relaxed.owl obsolete hypertelorism (disease)|hypertelorism of orbit|hypertelorism obsolete hypertelorism (disease) ICD9:376.41|NCIT:C34715|OMIM:145400|MESH:D006972|SCTID:22006008|HP:0000316 Hypertelorism is a phenotypic feature. HP:0000316 True https://github.com/monarch-initiative/mondo/issues/1574 owl:Class MESH:D006972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0302592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018289 biolink:NamedThing obsolete congenital disorder of glycosylation with dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl CDG with dilated cardiomyopathy out of scope ICD10:E77.8|Orphanet:371176 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' MONDO:0015286 True owl:Class ORPHA:371176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69878008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204521002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1690006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:varietas biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:3545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204731006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2827361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:suborder biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015982 biolink:NamedThing obsolete rare genetic intellectual disability OBSOLETE. Rare genetic intellectual disability. tmpte7i6ely_mondo_relaxed.owl rare genetic intellectual disability MONDO:0001071 UMLS:CN226821|Orphanet:183757 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015904 biolink:NamedThing obsolete rare hypolipidemia tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 UMLS:CN226783|Orphanet:181431 ICD10:E78.6 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:181431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:274944000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49607006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/192315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015186 biolink:NamedThing obsolete rare tumor of intestine OBSOLETE. Rare intestinal neoplasm. tmpte7i6ely_mondo_relaxed.owl rare tumor of bowel|rare intestinal tumor|rare intestinal neoplasm MONDO:0021118 Orphanet:104011 UMLS:C0021841 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:268762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN865669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254871000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018405 biolink:NamedThing obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl rare male infertility due to gonadotropic axis disorder of genetic origin|genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin MONDO:outOfScope Orphanet:399983|UMLS:CN227350 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235967003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444756000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371964008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4272579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018235 biolink:NamedThing obsolete dysostosis with limb anomaly as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:364568 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:4791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/malignant.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/246700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:270903007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764452004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:458768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C535282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70272006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8933000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109988003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92083007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239089006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4054287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/inborn_metabolic.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66590003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715345007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015475 biolink:NamedThing obsolete rare head and neck malformation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:155832|UMLS:CN226686 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0334393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724095006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018118 biolink:NamedThing obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227265|Orphanet:352306 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' MONDO:0002525 True owl:Class MESH:C565781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700062000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722290008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277155005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78960005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733083006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C5423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1876203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0853394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C63709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231861005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17234001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726609005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C47857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69825009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0949272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54470008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0032840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C122082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51040009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76682005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47507006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2681923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399882002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/leiomyoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C71719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/adenoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/small_cell_carcinoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015138 biolink:NamedThing obsolete rare genetic primary immunodeficiency tmpte7i6ely_mondo_relaxed.owl primary immunodeficiency MONDO:0003778 Orphanet:101997|UMLS:C0398686|SCTID:58606001 MedDRA:10064859 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D015154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111508004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187622006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2713583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo.owl biolink:NamedThing Mondo Disease Ontology A semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology. tmpte7i6ely_mondo_relaxed.owl Includes Ontology(OntologyID(Anonymous-51)) [Axioms: 71283 Logical Axioms: 0] 1.2 http://obofoundry.org/ontology/mondo.html http://creativecommons.org/licenses/by/4.0/ OBO:chebi.owl|OBO:uberon.owl|https://id.nlm.nih.gov/mesh/|OBO:ncbitaxon.owl|OBO:envo.owl|OBO:mf.owl|https://rarediseases.info.nih.gov/|OBO:hp.owl|http://www.orpha.net/ontology/orphanet.owl|OBO:doid.owl|OBO:ncit.owl|OBO:go.owl owl:Ontology ORPHA:674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721089006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015114 biolink:NamedThing obsolete rare parenchymal liver disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 UMLS:CN197471|Orphanet:101939 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:441944007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:770406002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017118 biolink:NamedThing obsolete syndrome with a cerebellar malformation as major feature tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN202468|Orphanet:269523 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class ORPHA:269523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018880 biolink:NamedThing obsolete rare teratologic disease tmpte7i6ely_mondo_relaxed.owl acquired embryofetopathy MONDO:outOfScope UMLS:CN205231|Orphanet:52662 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0343965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41495000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230298007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276509008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3160718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235595009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719515001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35868009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020274 biolink:NamedThing obsolete onycho-patellar syndrome with eye involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98704|UMLS:CN207079 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: genodermatosis with ocular features' MONDO:0020266 True owl:Class https://omim.org/entry/610213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4023190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020668 biolink:NamedThing obsolete spastic paraplegia 5B tmpte7i6ely_mondo_relaxed.owl SPG5B|moved to 270800 MONDO:0010047 OMIM:600146|GARD:0004917 True owl:Class SNOMEDCT:186499007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68675004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36601008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2986658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#merged_class biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl this class merges distinct concepts in other resources owl:AnnotationProperty DOID:0060506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016138 biolink:NamedThing obsolete malignant lymphoma with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl Orphanet:207046 True owl:Class MESH:C562858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0729842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28488007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197284004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C150555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:563708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127227003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702375004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0887833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240699006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:458763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766764008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:55596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018729 biolink:NamedThing obsolete genetic vascular tumor OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl rare genetic vascular tumor|genetic rare vascular tumor out of scope Orphanet:459543|UMLS:CN242080 MONDO:0024296 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:CN242080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716230005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/acute.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52138004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:304990002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126951006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314515006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277574007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722032005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017133 biolink:NamedThing obsolete genetic systemic or rheumatologic disease tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class https://omim.org/entry/300896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36803009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126957005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398071000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63339007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235494005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/174800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10026828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723497003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254129003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C93046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/disease_series_by_gene_and_inheritance.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419197009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:225147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764688002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044241 biolink:NamedThing obsolete mydriatic response to pharmacologic agents tmpte7i6ely_mondo_relaxed.owl mydriatic response to pharmacologic agents OMIM:159410 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4289991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C112183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65814009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363414004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203639008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198251001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015859 biolink:NamedThing obsolete rare non-malformative uterovaginal or vulvovaginal disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200461|Orphanet:180205 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:180205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/205400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019066 biolink:NamedThing obsolete syndrome with brachydactyly OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. tmpte7i6ely_mondo_relaxed.owl dysostosis with brachydactyly out of scope UMLS:CN205546|Orphanet:69028|ICD10:Q73.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class UMLS:C3150672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1301270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196609006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0006504 biolink:NamedThing obsolete Anomaly of the limb diaphyses morphology tmpte7i6ely_mondo_relaxed.owl Abnormality of shaft of long bone of the limbs HP:0000940 peter 2008-03-28T06:47:00Z True human_phenotype owl:Class NCIT:C26826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:211053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020042 biolink:NamedThing obsolete syndrome with 46,XY disorder of sex development tmpte7i6ely_mondo_relaxed.owl syndrome with 46,XY DSD out of scope Orphanet:98087|UMLS:CN206965 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class NCIT:C6809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#n_of_one biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl N of one owl:AnnotationProperty https://omim.org/entry/147060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253030004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018285 biolink:NamedThing obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature tmpte7i6ely_mondo_relaxed.owl X-linked CDG with intellectual disability as a major feature MONDO:outOfScope Orphanet:371054 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:13195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55056006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4945003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21173002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/sarcoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:134335004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Gymnosperms biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0865849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16044751000119106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66063001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3698136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717181004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93461009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48522003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48194001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91956006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733096007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/adenocarcinoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699870002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS602875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:708127008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1367420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018387 biolink:NamedThing obsolete rare male infertility due to adrenal disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227335|Orphanet:399584 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:399584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03460180 biolink:NamedThing obsolete: food added tmpte7i6ely_mondo_relaxed.owl "Food added" and its subclasses referenced existing ingredients / food products. FoodOn uses relations like "has ingredient" to do the same. If needed, these relations can be annotated with proportions. http://www.langual.org/langual_thesaurus.asp?termid=H0180 LanguaL curation note: When not otherwise indicated in the scope note, *FOOD ADDED* factor terms are applied when the specified food is the second ingredient in order of predominance, excluding water. Always used for fillings and when the added food is part of the product name (e.g., raisin bread). True http://langual.org owl:Class DOID:53 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:427086003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1510784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1168173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715369006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10009013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764951002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019299 biolink:NamedThing obsolete unclassified genetic skin disorder tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN205933|Orphanet:79385 MONDO:0005093 True owl:Class UMLS:C4310754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN769090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016804 biolink:NamedThing obsolete exercise intolerance with lactic acidosis tmpte7i6ely_mondo_relaxed.owl Orphanet:254843 True owl:Class MEDDRA:10010439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0004887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:0110835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:301183007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609519004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016405 biolink:NamedThing obsolete sterol metabolism disorder with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN226918|Orphanet:225710 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: MONDO:0019256 MONDO:0019256 True owl:Class UMLS:CN226918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715770009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1148546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75047002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/adenosquamous_carcinoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25671008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001494 biolink:NamedThing obsolete transvestism OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing. tmpte7i6ely_mondo_relaxed.owl dual-role transvestism|cross dresser|Transvestic fetishism ICD10:F65.1|NCIT:C94359|ICD9:302.3|UMLS:C0040774|ICD10:F64.1|SCTID:472981000|DOID:1233|MESH:D014190 True owl:Class MESH:D014190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235889003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720751000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016398 biolink:NamedThing obsolete peroxisomal disease with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN201329|Orphanet:225686 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: peroxisomal disease' MONDO:0019053 True owl:Class UMLS:CN204469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403970001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128333008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423590009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205506004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715903004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725036000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C63924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27025001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8849004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2363129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719511005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#reference biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0549471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021199 biolink:NamedThing obsolete disease by anatomical system OBSOLETE. A disease that disrupts the functioning of an organ system. tmpte7i6ely_mondo_relaxed.owl anatomical system disease|disease of anatomical system|disease of anatomical entity|disorder of anatomical system out of scope SCTID:362965005|DOID:7|UMLS:C1285159|ICD9:796.4 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class DOID:2349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020262 biolink:NamedThing obsolete nervous system anomaly with eye involvement tmpte7i6ely_mondo_relaxed.owl Orphanet:98692 True owl:Class ORPHA:98692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015107 biolink:NamedThing obsolete rare genetic eye disease OBSOLETE. A form of eye disease that is both rare and inborn. tmpte7i6ely_mondo_relaxed.owl rare genetic ophthalmologic disease|rare genetic eye disease MONDO:0005328 UMLS:CN197465|Orphanet:101435 TODO consider MESH:D015785 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN197465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C170436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57219006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2733623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018799 biolink:NamedThing obsolete rare hypercholesterolemia OBSOLETE. Rare hypercholesterolemia. tmpte7i6ely_mondo_relaxed.owl rare hypercholesterolemia MONDO:0000001 UMLS:CN776861|Orphanet:477811 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0341747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50642008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49984004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240783007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN037021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1709780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95695004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:589608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:316240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408856003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111578003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254694002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725045004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0080323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0277110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77377001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/127600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:595356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0541719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016177 biolink:NamedThing obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200929|Orphanet:209007 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease' MONDO:0021166 True owl:Class DOID:0050138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363393007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019708 biolink:NamedThing obsolete primary bone dysplasia with disorganized development of skeletal components tmpte7i6ely_mondo_relaxed.owl primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components out of scope Orphanet:93450 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class UMLS:C2676244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1857576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0040077 biolink:NamedThing obsolete Abnormal concentration of calcium in blood tmpte7i6ely_mondo_relaxed.owl HP:0004363 True human_phenotype owl:Class ORPHA:169105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238091006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723976005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766715000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717913006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0001012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:98833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:626004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764524005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#TraitNet biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MEDDRA:10061227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C112843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41572006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81139004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197718007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50143004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53619000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020234 biolink:NamedThing obsolete craniofacial anomaly with cataract tmpte7i6ely_mondo_relaxed.owl Orphanet:98650 True owl:Class DOID:0110308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C135213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03411161 biolink:NamedThing obsolete: cattle tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000800 biolink:NamedThing obsolete brown shrimp allergy OBSOLETE. A allergic disease involving a brown shrimp. tmpte7i6ely_mondo_relaxed.owl allergy of brown shrimp|Farfantepenaeus aztecus allergy|brown shrimp allergic disease MONDO:outOfScope DOID:0060525 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70041004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30250000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3276161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0302332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C5191670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008204 biolink:NamedThing obsolete patella aplasia, coxa vara, and tarsal synostosis tmpte7i6ely_mondo_relaxed.owl patella aplasia, coxa vara, and tarsal synostosis OMIM:168850|MESH:C536307 MONDO:0007841 True owl:Class MESH:C536307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721226005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80141007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8229003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61253004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C45426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30865009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718107000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54539003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:240103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C123020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277185000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017645 biolink:NamedThing obsolete rare choreic movement disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0005395 Orphanet:306715 UMLS:C0008489 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C538280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015969 biolink:NamedThing obsolete rare genetic thyroid disease OBSOLETE. Rare genetic thyroid disease. tmpte7i6ely_mondo_relaxed.owl rare genetic thyroid disease MONDO:0003240 UMLS:CN200568|Orphanet:183631 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724361001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018797 biolink:NamedThing obsolete genetic cardiac malformation tmpte7i6ely_mondo_relaxed.owl Orphanet:477805 MONDO:0005453 True https://github.com/monarch-initiative/mondo/issues/1175 owl:Class ORPHA:477805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715217004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237038001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018718 biolink:NamedThing obsolete vascular tumor with associated anomalies tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:458827|UMLS:CN242155 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular neoplasm' MONDO:0024296 True owl:Class ORPHA:458827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205131007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763273008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702406000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721809007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718222000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3697982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C557820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4539957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS312080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017155 biolink:NamedThing obsolete pulmonary arterial hypertension associated with schistosomiasis OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis. tmpte7i6ely_mondo_relaxed.owl PAH associated with schistosomiasis out of scope EFO:0009198|UMLS:C3697477|Orphanet:275823|ICD9:416.8|ICD10:I27.2|SCTID:697907008 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class ORPHA:275823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019602 biolink:NamedThing obsolete other inborn metabolic disease tmpte7i6ely_mondo_relaxed.owl other metabolic disease MONDO:outOfScope UMLS:CN206450|Orphanet:91088 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:91088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230670003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017654 biolink:NamedThing obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature tmpte7i6ely_mondo_relaxed.owl Orphanet:306759 True https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:306759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C32132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720813007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020202 biolink:NamedThing obsolete conjunctival lymphangiectasia tmpte7i6ely_mondo_relaxed.owl Orphanet:98614|ICD9:372.89|SCTID:231871007|UMLS:C0339186 Obsolete in Orphanet MONDO:0006170 True owl:Class SNOMEDCT:231871007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017032 biolink:NamedThing obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder tmpte7i6ely_mondo_relaxed.owl primary ILD in childhood and adulthood due to alveolar structure disorder out of scope UMLS:CN202344|Orphanet:264930 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class UMLS:CN202344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93470007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018402 biolink:NamedThing obsolete female infertility due to gonadal dysgenesis tmpte7i6ely_mondo_relaxed.owl rare female infertility due to ovarian dysgenesis|female infertility due to ovarian dysgenesis|rare female infertility due to gonadal dysgenesis out of scope ICD10:N97.0|Orphanet:399877 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' MONDO:0021124 True owl:Class ORPHA:85442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:297237003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46727001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017632 biolink:NamedThing obsolete rare tumor of liver and intrahepatic biliary tract OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare liver and intrahepatic bile duct neoplasm|rare tumor of liver and IBT MONDO:0024477 Orphanet:306636 UMLS:C0023903 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766760004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66576001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707339009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59818004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0269062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/inborn_metabolic_disrupts.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240894003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733469003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1876214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45894003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403833009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1654001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765142003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26479009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0678213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48278001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404171008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015172 biolink:NamedThing obsolete epithelio-exfoliative colitis-deafness syndrome OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness. tmpte7i6ely_mondo_relaxed.owl ICD10:P78.3|UMLS:CN226615|Orphanet:103912 Obsolete in Orphanet True owl:Class ORPHA:103912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:596448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0558355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015511 biolink:NamedThing obsolete rare genetic urogenital disease tmpte7i6ely_mondo_relaxed.owl MONDO:0021145 UMLS:CN199644|Orphanet:156619 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/263700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:597733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445059005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/isolated.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C20701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003043 biolink:NamedThing obsolete extraskeletal mesenchymal chondrosarcoma OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage. tmpte7i6ely_mondo_relaxed.owl mesenchymal extraosseous chondrosarcoma|mesenchymal extraskeletal chondrosarcoma DOID:4548|UMLS:C1275279|NCIT:C27481|SCTID:404080006|ICD9:171.9 Obsolete in NCIT. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class NCIT:C27481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1419610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018035 biolink:NamedThing obsolete syndrome with combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:331217|UMLS:CN204279 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class UMLS:CN035075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1706832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1331541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387778001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254601002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240523007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238534006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92617001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015946 biolink:NamedThing obsolete rare genetic epidermal disorder tmpte7i6ely_mondo_relaxed.owl genetic epidermal disorder MONDO:0000001 UMLS:CN200542|Orphanet:183426 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:324713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS132400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:566231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044279 biolink:NamedThing obsolete bone mineral density quantitative trait locus 15 tmpte7i6ely_mondo_relaxed.owl BMND15|osteoporosis, susceptibility to|bone mineral density quantitative trait locus 15|metaphyseal fracture, susceptibility to|compression fracture, susceptibility to OMIM:613418 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/613418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9014002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020276 biolink:NamedThing obsolete pigmentation disorder with eye involvement, excluding albinism tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227845|Orphanet:98708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pigmentation disease' MONDO:0006600 True owl:Class UMLS:C0796192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82146006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236461000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018042 biolink:NamedThing obsolete immunodeficiency syndrome with abnormal pigmentation tmpte7i6ely_mondo_relaxed.owl immunodeficiency syndrome with hypopigmentation out of scope UMLS:CN204283|Orphanet:331249 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease' MONDO:0021094 True owl:Class ORPHA:331249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443719001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3274138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2932680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:698272007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D041441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9660004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12295008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/551200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:430886005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:397593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1735591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703310005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020755 biolink:NamedThing obsolete heart block tmpte7i6ely_mondo_relaxed.owl SCTID:233916004 HP:0012722 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class IAO:0000423 biolink:NamedThing to be replaced with external ontology term Terms with this status should eventually replaced with a term from another ontology. tmpte7i6ely_mondo_relaxed.owl group:OBI to be replaced with external ontology term Alan Ruttenberg IAO:0000078 ORPHA:989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017022 biolink:NamedThing obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis tmpte7i6ely_mondo_relaxed.owl secondary ILD specific to childhood associated with a systemic vasculitis out of scope UMLS:CN202335|Orphanet:264709 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class https://omim.org/entry/242050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20307000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015223 biolink:NamedThing obsolete rare anemia OBSOLETE. Rare anemia. tmpte7i6ely_mondo_relaxed.owl rare anemia (disease)|rare anemia MONDO:0002280 Orphanet:108997 UMLS:C0002871 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C5707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:84142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51626007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726620005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763477007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36871005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51290000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016488 biolink:NamedThing obsolete beta-thalassemia associated with another hemoglobin anomaly OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]. tmpte7i6ely_mondo_relaxed.owl Beta-thalassemia associated with another Hb anomaly out of scope ICD10:D58.2|Orphanet:231230 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' MONDO:0017145 True owl:Class ORPHA:231230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044236 biolink:NamedThing obsolete hepatitis b vaccine, response to OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}). tmpte7i6ely_mondo_relaxed.owl HBV vaccine, response to|HEPATITIS B vaccine, response to OMIM:142395 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/142395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371189003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C103917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018719 biolink:NamedThing obsolete obsolete rare capillary malformation with associated anomalies tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope A grouping term that is probably not used clinically. UMLS:CN242066|Orphanet:458830|MONDO:0016231 True https://github.com/monarch-initiative/mondo/issues/1727|https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C141442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236469003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019936 biolink:NamedThing obsolete rare otorhinolaryngological malformation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227722|Orphanet:96333 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:251304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015886 biolink:NamedThing obsolete rare diabetes mellitus type 1 OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare insulin-dependent diabetes mellitus|rare type 1 diabetes mellitus MONDO:0005147 Orphanet:181371 UMLS:C0011854 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:233666007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709416009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724070005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722430008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014425 biolink:NamedThing obsolete hereditary persistence of alpha-fetoprotein OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy tmpte7i6ely_mondo_relaxed.owl ALPHA-fetoprotein, hereditary persistence OF|HPAFP out of scope Orphanet:168615|SCTID:716697002|OMIM:615970 This is a biological anomaly and not a disease. True owl:Class OBO:mondo#ordo_biological_anomaly biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl biological anomaly owl:AnnotationProperty UMLS:C0155395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124593001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69134001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205480005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:ubprop#_upper_level biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN201110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014424 biolink:NamedThing obsolete congenital deficiency in alpha-fetoprotein OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. tmpte7i6ely_mondo_relaxed.owl ALPHA-fetoprotein deficiency|AFPD out of scope OMIM:615969|UMLS:C1863081|Orphanet:168612|MESH:C566300 This is a biological anomaly and not a disease. True owl:Class DOID:0060834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111409009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72092001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3542550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3267126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254659009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700111000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/refractory.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:565641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020254 biolink:NamedThing obsolete craniostenosis associated with a strabismus tmpte7i6ely_mondo_relaxed.owl Orphanet:98684 True owl:Class UMLS:C0271680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19133005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715420005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32390006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1291560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008697 biolink:NamedThing obsolete acetophenetidin sensitivity tmpte7i6ely_mondo_relaxed.owl Acetophenetidin sensitivity OMIM:200300 True owl:Class https://omim.org/entry/200300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016634 biolink:NamedThing obsolete thrombotic disorder due to an acquired coagulation factors defect OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual. tmpte7i6ely_mondo_relaxed.owl acquired rare thrombotic disorder due to a coagulation factors defect MONDO:outOfScope Orphanet:248365|UMLS:CN226984 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class NCIT:C7737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:26790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87696004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1449842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015120 biolink:NamedThing obsolete rare acquired eye disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 UMLS:CN197477|Orphanet:101949 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C133724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017641 biolink:NamedThing obsolete miscellaneous movement disorder due to neurodegenerative disease tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:306695|UMLS:CN203537 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder' MONDO:0005395 True owl:Class DOID:1523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232461002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018455 biolink:NamedThing obsolete dysostosis of genetic origin with limb anomaly as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:404571 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:404571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017414 biolink:NamedThing obsolete rare nevus OBSOLETE. Rare nevus. tmpte7i6ely_mondo_relaxed.owl rare melanocytic nevus|rare nevus MONDO:0005073 Orphanet:294057 UMLS:C0027960 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:294057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312215006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3241961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718218005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4302514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subgenus biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733045005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS259700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018397 biolink:NamedThing obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder tmpte7i6ely_mondo_relaxed.owl rare female infertility due to gonadotropic axis disorder|rare female infertility due to hypothalamic-pituitary-ovarian axis disorder MONDO:outOfScope UMLS:CN227343|Orphanet:399831 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721008000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402723003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019183 biolink:NamedThing obsolete inherited odontologic disease tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:77830|UMLS:CN205756 MONDO:0006999 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN205756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763891005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707449006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C90259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C35543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201128002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192761004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234350007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C152064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN737161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717232005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90685008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237701005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017152 biolink:NamedThing obsolete pulmonary arterial hypertension associated with congenital heart disease OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. tmpte7i6ely_mondo_relaxed.owl PAH associated with congenital heart disease out of scope UMLS:C3697119|Orphanet:275803|EFO:0009054|UMLS:CN243982|ICD9:416.8|ICD10:I27.2|SCTID:697905000 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class SNOMEDCT:697905000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0032856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:720401009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015901 biolink:NamedThing obsolete rare inherited hyperlipidemia tmpte7i6ely_mondo_relaxed.owl rare hyperlipidemia MONDO:0021187 Orphanet:181422 UMLS:C0020473|ICD10:E78.2|ICD10:E78.0|ICD10:E78.1|ICD9:272.4|ICD10:E78.5|ICD10:E78.3|ICD10:E78.4 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:2498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234533006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20376005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19311003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720812002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0740480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19213003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019687 biolink:NamedThing obsolete type 11 collagen-related bone disorder tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0005381 True owl:Class UMLS:C3280042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70410008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36667009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020621 biolink:NamedThing obsolete blood group--scianna system tmpte7i6ely_mondo_relaxed.owl BLOOD GROUP--SCIANNA SYSTEM|Scianna Blood Group|SC OMIM:111750 True owl:Class https://omim.org/entry/111750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71961003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000839 biolink:NamedThing obsolete congenital abnormality OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. tmpte7i6ely_mondo_relaxed.owl SCONG|congenital defect|CM - congenital malformation|fetal malformation|congenital anatomical Abnormality|congenital anomalies of fetus|physical disorder|congenital anomaly or birth defect|fetal developmental abnormality|defect/deformity, Congenital|congenital anomaly|foetal malformation|congenital anatomic Abnormality|congenital abnormality|congenital defect/deformity|defect/deformity, congenital|deformity/defect, Congenital|congenital Abnormality|congenital deformity|birth defect|congenital malformation out of scope SCTID:276654001|ICD10:Q00.Q99|UMLS:CN232116|ICD9:759.9|NCIT:C2849|ICD9:759.89|MESH:D000013|EFO:0003915|DOID:0080015 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class DOID:0080015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34298002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416824008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52824009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0016627 biolink:NamedThing obsolete rare hemorrhagic disorder tmpte7i6ely_mondo_relaxed.owl rare bleeding disorder|rare coagulopathy MONDO:0002243 UMLS:CN226978|Orphanet:248308 UMLS:C0005779|UMLS:C0019087 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:248308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205063003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48982009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4078288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017965 biolink:NamedThing obsolete syndrome with 46,XX disorder of sex development tmpte7i6ely_mondo_relaxed.owl syndrome with 46,XX DSD out of scope UMLS:CN204115|Orphanet:325109 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class NCIT:C80281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1674008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37214009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237059008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0524688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10055046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91138005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230724001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721187005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707341005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23615008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016336 biolink:NamedThing obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217616|UMLS:CN226905 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis' MONDO:0017713 True owl:Class ORPHA:466934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017021 biolink:NamedThing obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease tmpte7i6ely_mondo_relaxed.owl secondary ILD specific to childhood associated with a connective tissue disease out of scope UMLS:CN202334|Orphanet:264704 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class DOID:6610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:38874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000802 biolink:NamedThing obsolete Indian prawn allergy OBSOLETE. A allergic disease involving a Indian prawn. tmpte7i6ely_mondo_relaxed.owl allergy of Indian prawn|Fenneropenaeus indicus allergy|Indian prawn allergic disease MONDO:outOfScope DOID:0060527 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C156953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C3453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/mucoepidermoid_carcinoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38342005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238676008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724170007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415125002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66729008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238031009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D029502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42345000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85559002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:206970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020230 biolink:NamedThing obsolete renal disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN207058|Orphanet:98646 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: kidney disease' MONDO:0005240 True owl:Class MESH:D004942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017977 biolink:NamedThing obsolete 46,XY disorder of sex development of gynecological interest tmpte7i6ely_mondo_relaxed.owl 46,XY DSD of gynecological interest UMLS:CN227238|Orphanet:325632 These terms are not used clinically. MONDO:0002145|MONDO:0001967 True owl:Class ORPHA:325632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0836924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128239009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:275498002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C000598644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018395 biolink:NamedThing obsolete male infertility due to sperm motility disorder tmpte7i6ely_mondo_relaxed.owl Male infertility due to asthenozoospermia out of scope UMLS:CN227341|Orphanet:399813|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class https://omim.org/entry/602475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000785 biolink:NamedThing obsolete peach allergy OBSOLETE. A allergy involving a Prunus persica. tmpte7i6ely_mondo_relaxed.owl Prunus persica caused allergic disease|Prunus persica allergic disease|Prunus persica fruit allergy|allergy of Prunus persica MONDO:outOfScope DOID:0060510 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015972 biolink:NamedThing obsolete rare constitutional anemia OBSOLETE. A form of anemia (disease) that is both rare and inborn. tmpte7i6ely_mondo_relaxed.owl rare inborn anemia (disease)|rare genetic anemia (disease)|rare constitutional anemia (disease) MONDO:0002280 Orphanet:183651|UMLS:CN226818 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126788000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63122002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763888005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0549463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66189004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62110005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015113 biolink:NamedThing obsolete rare vascular liver disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 Orphanet:101938 UMLS:C0400923 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711329002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3890167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254815002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN031715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3671377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:59763006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718603002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198033005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:superorder biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58262005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1861693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86268005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015949 biolink:NamedThing obsolete rare genetic subcutaneous tissue disorder tmpte7i6ely_mondo_relaxed.owl genetic subcutaneous tissue disorder MONDO:0000001 UMLS:CN200546|Orphanet:183484 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:95877004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21764004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D021922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719304005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726705007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2211689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702772003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255166003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19429009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44054006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193576003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/246470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763748007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C18252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2242776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3839685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232063007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53165003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000668.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233915000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65154009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363140000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52985009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9105005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000794 biolink:NamedThing obsolete beta-lactam allergy OBSOLETE. A allergy involving a beta-lactam. tmpte7i6ely_mondo_relaxed.owl beta-lactam allergic disease|allergy of beta-lactam MONDO:outOfScope DOID:0060519 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2939185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3494506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017693 biolink:NamedThing obsolete glycogen storage disease due to glycogen synthase deficiency tmpte7i6ely_mondo_relaxed.owl GSD due to glycogen synthase deficiency|glycogen storage disease type 0|glycogenosis due to glycogen synthase deficiency|GSD0 out of scope UMLS:CN203589|ICD10:E74.0|Orphanet:308520 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' MONDO:0002412 True owl:Class MEDDRA:10070667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015621 biolink:NamedThing obsolete rare abdominal surgical disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 Orphanet:165711|UMLS:CN199996 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:165711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2607931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73893000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1563751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724274009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47125007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719665003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4282208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020281 biolink:NamedThing obsolete metabolic disease with pigmentary retinitis tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98713|UMLS:CN207084 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class UMLS:CN207084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0431128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715630006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363246002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703534001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90688005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35055000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016767 biolink:NamedThing obsolete cutaneous lichen planus tmpte7i6ely_mondo_relaxed.owl rare cutaneous lichen planus|rare cutaneous LP out of scope UMLS:CN226995|ICD10:L43.3|Orphanet:254370|ICD10:L43.8|ICD10:L66.1|ICD10:L43.9|ICD10:L43.1|ICD10:L43.0|ICD10:L43.2 MONDO:0006572 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:CN226995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3668940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47597000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020002 biolink:NamedThing obsolete rare surgical thoracic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 UMLS:CN206935|Orphanet:97962 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0044974 biolink:NamedThing obsolete disease of supramolecular complex tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class MESH:C563037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47306003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33513003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715796006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234633000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444231005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238024005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016347 biolink:NamedThing obsolete rare cardiac rhythm disease OBSOLETE. A rare form of cardiac rhythm disease. tmpte7i6ely_mondo_relaxed.owl rare cardiac rhythm disease MONDO:0007263 Orphanet:218436|UMLS:CN201185 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C2969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254631008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48210000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/substance_abuse.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233609002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044971 biolink:NamedThing obsolete disease of macromolecular complex tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class MESH:D011038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49351009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016055 biolink:NamedThing obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:199639|UMLS:CN200739 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class SNOMEDCT:722468005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16644004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/230650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10074583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS102200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723409007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4318747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019116 biolink:NamedThing obsolete catecholamine-producing tumor OBSOLETE. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). tmpte7i6ely_mondo_relaxed.owl UMLS:CN205637|Orphanet:717 Orphanet obsoleted this MONDO:0021072|MONDO:0015077 True https://github.com/monarch-initiative/mondo/issues/2199 owl:Class UMLS:CN205637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016082 biolink:NamedThing obsolete tracheo-esophageal fistula-hypospadias syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:2042|ICD10:Q87.8|UMLS:CN226834 Obsolete in Orphanet MONDO:0008586 True owl:Class ORPHA:2042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722488009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3829122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127217009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019062 biolink:NamedThing obsolete rare infectious disease OBSOLETE. Rare infectious disease. tmpte7i6ely_mondo_relaxed.owl rare infectious disease MONDO:0005550 Orphanet:68416|UMLS:CN205543 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/617102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:54057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010666 biolink:NamedThing obsolete Miles-Carpenter syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010758 OMIM:309605 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1696 owl:Class https://omim.org/entry/309605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128213006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415105001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:309776008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702380008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000012.12 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46939000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MEDDRA:10001767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:218728005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS250950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42343007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764622004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72900001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66347000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:253002004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721173005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60700002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725033008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41040004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:415286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7199000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:430395005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016508 biolink:NamedThing obsolete rare non surgically correctable form of primary aldosteronism tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226947|Orphanet:231641 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725291001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79037006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7720002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020004 biolink:NamedThing obsolete rare eye disease OBSOLETE. Rare eye disease. tmpte7i6ely_mondo_relaxed.owl rare eye disease MONDO:0005328 Orphanet:97966|UMLS:CN206937 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2959585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018649 biolink:NamedThing obsolete cerebral visual impairment OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. tmpte7i6ely_mondo_relaxed.owl visual cortex disorder|cortical visual impairment out of scope Orphanet:447788|ICD10:H47.6|SCTID:413924001|UMLS:CN237707|UMLS:C0234398|NCIT:C35275 Reason: is a phenotype and not a disease. Term to consider: HP:0100704 HP:0100704 True owl:Class NCIT:C35275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414521009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192004002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254169002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019059 biolink:NamedThing obsolete rare parkinsonian disorder OBSOLETE. Rare parkinsonian disorder. tmpte7i6ely_mondo_relaxed.owl rare hypokinetic movement disorder|rare parkinsonian disorder MONDO:0021095 Orphanet:68402 UMLS:C0242422 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN536255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10009807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C135080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403426003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017665 biolink:NamedThing obsolete rare genetic disease with myoclonus as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:307067|UMLS:CN203550 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class DOID:5729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011467 biolink:NamedThing obsolete human herpesvirus type 6, integrated tmpte7i6ely_mondo_relaxed.owl human herpesvirus type 6, integrated MESH:C565771|UMLS:C1858340|OMIM:604474 True owl:Class MESH:C565771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609565001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52165006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720501007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720817008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372104008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83824009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723441001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0520796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254915003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/juvenile.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C146726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719816006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1395264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1258215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236529001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1968556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716723000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255003007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699185005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398680004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3711385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1412041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239011004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766872002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015911 biolink:NamedThing obsolete rare acquired hemolytic anemia OBSOLETE. Hemolytic anemia, the cause of which is not present at birth. tmpte7i6ely_mondo_relaxed.owl Acquired hemolytic Anemia MONDO:0003664 SCTID:4854004|NCIT:C34377|Orphanet:182047 ICD10:D59.9|UMLS:C0002879|ICD10:D59.1|ICD10:D59.0|ICD10:D59.3|ICD10:D59.4|ICD10:D59.2|ICD10:D59.6|ICD10:D59.5|ICD10:D59.8 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1863702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0100229 biolink:NamedThing obsolete Heimler syndrome OBSOLETE. A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. tmpte7i6ely_mondo_relaxed.owl bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|sensorineural hearing loss, enamel hypoplasia, and nail abnormalities|Heimler syndrome|deafness-enamel hypoplasia-nail defects syndrome|deafness enamel hypoplasia nail defects out of scope GARD:0001687|OMIM:616617|UMLS:C1856186|OMIM:234580|MESH:C535994|Orphanet:3220|SCTID:721085000 MONDO:0100259 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class SNOMEDCT:721085000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95662005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118601006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019996 biolink:NamedThing obsolete rare cardiac disease OBSOLETE. Rare heart disease. tmpte7i6ely_mondo_relaxed.owl rare heart disease MONDO:0005267 Orphanet:97929|UMLS:CN206932 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016436 biolink:NamedThing obsolete acquired dermis elastic tissue disorder with increased elastic tissue tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:228224|UMLS:CN226929 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder' MONDO:0016434 True owl:Class UMLS:C0279070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1513799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:596753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719686003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715866009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721234004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42829009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403810008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61764000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276809004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447100004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:167714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123952009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MEDDRA:10028176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/sparql/qc/mondo/qc-no-subclass-between-genetic-disease.sparql biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:59298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017652 biolink:NamedThing obsolete rare disease with myoclonus as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN203543|Orphanet:306753 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C564743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10045545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446988001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718189004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13266007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373587001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020267 biolink:NamedThing obsolete genetic keratinization disorder associated with ocular features tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227842|Orphanet:98697 Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo. Term to consider: inherited ichthyosis syndromic form' MONDO:0017263 True owl:Class DOID:0111325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/170400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16685009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60504009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS231050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197811007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402529002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70076002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4284790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:565858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128612007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010387 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated, 2 tmpte7i6ely_mondo_relaxed.owl MONDO:0010386 OMIM:300640 Obsolete in OMIM. True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class https://omim.org/entry/300640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67383002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN706304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205306000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020126 biolink:NamedThing obsolete rare peripheral neuropathy OBSOLETE. Rare peripheral neuropathy. tmpte7i6ely_mondo_relaxed.owl rare peripheral neuropathy MONDO:0005244 Orphanet:98496 UMLS:C0031117 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS142700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C42057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718753002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418134006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363449006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234607008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86448001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371583007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402693001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3501891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22006008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017311 biolink:NamedThing obsolete rare disease with thoracic aortic aneurysm and aortic dissection tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:285014|ICD10:I71.2|UMLS:CN202889|ICD10:I71.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular disease' MONDO:0005385 True owl:Class MESH:D020324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109978004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763458005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:271861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22440001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN873436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37779008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55850004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0585266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721843003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6121001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25766007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:708026002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126686005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719689005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55341008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:155441006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254125009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7620006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020270 biolink:NamedThing obsolete pigmentation disorder with eye involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98700|UMLS:CN227844 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class UMLS:CN227844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239032007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015857 biolink:NamedThing obsolete rare non-malformative gynecologic or obstetric disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:180199|UMLS:CN200458 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D054446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10301003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233916004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73144008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48796009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718227006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1963002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403971002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38323006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60136008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017539 biolink:NamedThing obsolete postaxial polydactyly of toes, unilateral tmpte7i6ely_mondo_relaxed.owl ICD10:Q69.2|Orphanet:295179 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28783002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713417000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718228001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019827 biolink:NamedThing obsolete disease associated with non-acquired combined pituitary hormone deficiency tmpte7i6ely_mondo_relaxed.owl secondary non-acquired combined pituitary hormone deficiency out of scope Orphanet:95495|UMLS:CN206775 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency' MONDO:0018762 True owl:Class UMLS:CN206775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:427685000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363408006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22611009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717046003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017647 biolink:NamedThing obsolete postinfectious autoimmune disease with chorea tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN203539|Orphanet:306727 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease' MONDO:0007179 True owl:Class ORPHA:306727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:750009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D060545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1443901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016578 biolink:NamedThing obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. tmpte7i6ely_mondo_relaxed.owl OXPHOS disease due to nDNA anomalies|mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies out of scope UMLS:CN201731|Orphanet:2443 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO:0016387 True owl:Class ORPHA:2443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8757006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN882913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768555009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254870004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0860580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN502749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254619006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239937004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302838006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015125 biolink:NamedThing obsolete rare thyroid disease OBSOLETE. Rare thyroid disease. tmpte7i6ely_mondo_relaxed.owl rare thyroid disease|rare thyroid gland disease MONDO:0003240 Orphanet:101955 UMLS:C0040128 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C40329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0745216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24321005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766044005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707310009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55608001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019717 biolink:NamedThing obsolete chromosomal disease with overgrowth tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN206622|Orphanet:93461 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder' MONDO:0019040 True owl:Class NCIT:C35801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92384009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007506 biolink:NamedThing obsoleted echo virus 11 sensitivity tmpte7i6ely_mondo_relaxed.owl E11S|echo virus 11 sensitivity OMIM:129150|UMLS:C1851888|MESH:C565071 MONDO:0005740 True owl:Class https://omim.org/entry/129150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:pato#location_grouping biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:0111215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239892009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230429005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30128009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399422005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2284002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019174 biolink:NamedThing obsolete infantile Refsum disease OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:772|OMIM:202370|OMIM:601539|NCIT:C84789|OMIM:266510|ICD10:G60.1|OMIM:614863|SCTID:238062008|MESH:D052919|OMIM:614873|OMIM:614920|OMIM:614871|OMIM:614885|UMLS:C0282527|GARD:0004648|OMIM:614867|OMIM:614877 MONDO:0100259 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class UMLS:CN228901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS306955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015868 biolink:NamedThing obsolete rare breast tumor OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare breast neoplasm|rare breast cancer MONDO:0021100 Orphanet:180250 UMLS:C1458155 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4021133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302822000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015659 biolink:NamedThing obsolete infectious disease with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200068|Orphanet:166490 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease' MONDO:0005550 True owl:Class ORPHA:166490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766756002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230373008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23205009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4049711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126667002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN757797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419153005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:413936007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/142470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82214002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201161009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14386001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50799005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN774236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55130001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33629003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2363142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402694007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719049003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716667005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002510 biolink:NamedThing obsolete germ cell and embryonal cancer OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus. tmpte7i6ely_mondo_relaxed.owl germ cell and embryonal neoplasm MESH:D009373|DOID:3095 Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed. MONDO:0005040 True https://github.com/monarch-initiative/mondo/issues/376 owl:Class MESH:D009373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/192400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128462008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197866008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8634009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254060000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363510005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238853007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77692006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018119 biolink:NamedThing obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:352309|UMLS:CN227266 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' MONDO:0002525 True owl:Class ORPHA:100080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126896003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24369008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:420079008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72831007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720609003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/117300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024657 biolink:NamedThing obsolete macrocystic neurilemmoma tmpte7i6ely_mondo_relaxed.owl DOID:3203 The DO class refers to macrocystic neurilemma but this is possibly a typo as the equivalent NCIT and UMLS class is microcystic MONDO:0002556 True owl:Class DOID:3203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3542026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240074006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254976006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4288922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016335 biolink:NamedThing obsolete mitochondrial disease with dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN201166|Orphanet:217613 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class ORPHA:217613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/172110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193466003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276544005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001193 biolink:NamedThing obsolete chorioretinal scar tmpte7i6ely_mondo_relaxed.owl HP:0007777 ICD9:363.30|ICD9:363.3|SCTID:53854005|ICD10:H31.00|ICD10:H31.0|DOID:11086 True owl:Class SNOMEDCT:53854005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:437552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1327709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017368 biolink:NamedThing obsolete systemic disease with skin involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:290836|UMLS:CN203041 This is a grouping class that is considered out of scope. MONDO:0005093 True owl:Class NCIT:C3427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:102449007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717789008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92132009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55342001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1710067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C18058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8808004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448233000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03411087 biolink:NamedThing obsolete: human as milk source tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0023240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719301002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016235 biolink:NamedThing obsolete complex vascular malformation with associated anomalies tmpte7i6ely_mondo_relaxed.owl hemangiolymphangioma out of scope Orphanet:211277 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular anomaly' MONDO:0019063 True owl:Class UMLS:CN203069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007929 biolink:NamedThing obsolete Epstein syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007954 NCIT:C131639|UMLS:C0398641 True https://github.com/monarch-initiative/mondo/issues/396 owl:Class NCIT:C131639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:84093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:271835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42393006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60600009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016629 biolink:NamedThing obsolete hemorrhagic disorder due to a platelet anomaly tmpte7i6ely_mondo_relaxed.owl rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia|rare coagulopathy due to a platelet anomaly|rare bleeding disorder due to a platelet anomaly out of scope UMLS:CN236380|Orphanet:248326 MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:248326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702425002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54576000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018080 biolink:NamedThing obsolete rare germ cell tumor OBSOLETE. Rare germ cell tumor. tmpte7i6ely_mondo_relaxed.owl rare germ cell tumor|germ cell tumor MONDO:0005040 SCTID:402878003|Orphanet:3399 Editor note: consider merging to parent UMLS:C0740345 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:3399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015495 biolink:NamedThing obsolete otomandibular dysplasia associated with monogenic syndromes tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN199632|Orphanet:156202 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: otomandibular dysplasia' MONDO:0015482 True owl:Class DOID:0110159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124220008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023156 biolink:NamedThing obsolete fibular aplasia tmpte7i6ely_mondo_relaxed.owl GARD:0008659 HP:0002990 True owl:Class ORPHA:499009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4082937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22361007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1857800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85983004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22649008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:60008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16632002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015789 biolink:NamedThing obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:178025|ICD10:E23.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency' MONDO:0018762 True owl:Class DOID:0110983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62501005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400171002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61598006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN237539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74578003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:438504004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232075002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4120002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3642329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239895006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0029042 biolink:NamedThing obsolete ureteropelvic junction obstruction tmpte7i6ely_mondo_relaxed.owl HP:0000074 DOID:0111145 True owl:Class DOID:0111145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0853715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72047008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016636 biolink:NamedThing obsolete thrombotic disorder due to a constitutional platelet anomaly tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:248401|UMLS:CN226986 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:248401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197663003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363388009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0740479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254609000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27536004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:227972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020107 biolink:NamedThing obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder tmpte7i6ely_mondo_relaxed.owl hemolytic anemia due to an erythroenzymopathy out of scope ICD10:D55.3|UMLS:CN227784|Orphanet:98374 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' MONDO:0003664 True owl:Class https://omim.org/entry/619673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044282 biolink:NamedThing obsolete blood group, vel system OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}). tmpte7i6ely_mondo_relaxed.owl VEL|Vel-null phenotype|blood group, VEL system OMIM:615264 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50797007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717014003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020192 biolink:NamedThing obsolete rare lacrimal system disease OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare lacrimal apparatus disease MONDO:0001854 Orphanet:98602 UMLS:C0022904 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C114801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010357 biolink:NamedThing obsolete MRX78 tmpte7i6ely_mondo_relaxed.owl MONDO:0010656 OMIM:300551 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1691 owl:Class https://omim.org/entry/300551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402526009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254811006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723361006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006872 biolink:NamedThing obsolete nut allergic reaction OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system. tmpte7i6ely_mondo_relaxed.owl nut allergy|allergy to nuts|nut allergic reaction|allergy of 022 tree nuts (tn) (ccpr)|022 tree nuts (tn) (ccpr) allergic disease MONDO:outOfScope SCTID:91934008|DOID:4379|EFO:1001066|MESH:D021184|UMLS:C0577620 SCTID:395654004 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MESH:D021184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91273001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255037004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN230090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D049328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019410 biolink:NamedThing obsolete nodulosis-arthropathy-osteolysis syndrome tmpte7i6ely_mondo_relaxed.owl multicentric osteolysis-nodulosis-arthropathy syndrome|NAO syndrome OMIM:277950|Orphanet:85196|ICD10:M89.5|OMIM:259600|UMLS:CN206138 Obsolete in Orphanet MONDO:0018298 True owl:Class UMLS:CN206138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:422526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:211247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233815004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109493006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/x_linked.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255034006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277580004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:54 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/313400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722759007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4085582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33655002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724841000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721835008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402425006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37340000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6729006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:352818000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372103002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234500001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45534005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/obophenotype/uberon/wiki/inter-anatomy-ontology-bridge-ontologies biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:497764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:473418001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3495589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D039141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38247002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67256000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23501004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018398 biolink:NamedThing obsolete female infertility due to a congenital hypogonadotropic hypogonadism tmpte7i6ely_mondo_relaxed.owl rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism out of scope ICD10:N97.0|Orphanet:399839 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' MONDO:0021124 True owl:Class UMLS:CN201292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58256000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020009 biolink:NamedThing obsolete rare neurologic disease OBSOLETE. Rare nervous system disease. tmpte7i6ely_mondo_relaxed.owl rare nervous system disease|rare nervous system disorder MONDO:0005071 Orphanet:98006|UMLS:CN206943 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C562839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68390005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1368275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D051436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4039413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236772009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72262000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443439001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:432261003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN240507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21638000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016492 biolink:NamedThing obsolete beta-thalassemia with other manifestations OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:231386|ICD10:D58.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' MONDO:0017145 True owl:Class DOID:0080153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006728 biolink:NamedThing obsolete discitis OBSOLETE. Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. tmpte7i6ely_mondo_relaxed.owl intervertebral disk inflammation|inflammation of intervertebral disk out of scope UMLS:C0012624|ICD9:722.90|EFO:1000900|MESH:D015299|ICD10:M46.4|SCTID:2304001|DOID:10986 This is a phenotype and not a disease. MONDO:800000 True owl:Class UMLS:C0012624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64351000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MEDDRA:10009260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118930001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359673001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302866003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724137002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82675004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3978000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763068005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22542007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59566000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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NCIT:C40957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314757003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83579008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C156954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:0080129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:370999003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4072935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233908008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024297 biolink:NamedThing obsolete nutritional or metabolic disease OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. tmpte7i6ely_mondo_relaxed.owl out of scope MESH:D009750|UMLS:C0028715|ICD10:E00.E90 Editor note: consider expanding to include endocrine MONDO:0005137|MONDO:0005066 True https://github.com/monarch-initiative/mondo/issues/3157 owl:Class MESH:D009750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D034062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018386 biolink:NamedThing obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder tmpte7i6ely_mondo_relaxed.owl rare male infertility due to hypothalamic-pituitary-testicular axis disorder|rare male infertility due to gonadotropic axis disorder MONDO:outOfScope UMLS:CN227334|Orphanet:399572 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C566720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722119002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239001006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:ncit#oncotree_slim biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/300055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:220393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Angiosperm biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/211370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044237 biolink:NamedThing obsolete hypercholesterolemia suppressor tmpte7i6ely_mondo_relaxed.owl hypercholesterolemia suppressor OMIM:144020 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/144020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3542022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015651 biolink:NamedThing obsolete neurocutaneous syndrome with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:166466|UMLS:CN200062 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurocutaneous syndrome' MONDO:0042983 True owl:Class ORPHA:101007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:104011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92097004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:422437002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267534000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/allergic_form_of_disease.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719451006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12957008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007291 biolink:NamedThing obsolete familial cerebral cavernous malformation tmpte7i6ely_mondo_relaxed.owl MONDO:0031037 True https://github.com/monarch-initiative/mondo/issues/2940 owl:Class IAO:0000229 biolink:NamedThing term split tmpte7i6ely_mondo_relaxed.owl This is to be used when a term has been split in two or more new terms. An editor note should indicate the reason for the split and indicate the URIs of the new terms created. term split owl:NamedIndividual https://omim.org/entry/610535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009428 biolink:NamedThing obsolete childhood hypophosphatasia OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. tmpte7i6ely_mondo_relaxed.owl hypophosphatasia of childhood|childhood-onset phosphoethanolaminuria|childhood-onset hypophosphatasia|obsolete childhood hypophosphatasia|childhood-onset Rathburn disease|hypophosphatasia, childhood|pediatric hypophosphatasia out of scope GARD:0008735|SCTID:30174008|OMIM:241510|UMLS:C0220743|Orphanet:247667|ICD10:E83.3|DOID:0110915|MESH:C562440|Orphanet:436 MONDO:0600011|MONDO:0600010|MONDO:0600009 True https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia|https://github.com/monarch-initiative/mondo/issues/2906 owl:Class SNOMEDCT:30174008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71912000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021007 biolink:NamedThing obsolete stage of disease tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0153479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53773002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719046005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408643008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28371001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:20 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67924001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0002459 biolink:NamedThing obsolete Dysautonomia tmpte7i6ely_mondo_relaxed.owl HP:0012332 True human_phenotype owl:Class NCIT:C35795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015895 biolink:NamedThing obsolete syndrome with hypoparathyroidism tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200505|Orphanet:181402 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class DOID:0110130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707510005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404054005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78004001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C163755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721882001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044215 biolink:NamedThing obsolete arm folding preference tmpte7i6ely_mondo_relaxed.owl ARM folding preference OMIM:107850 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/107850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418818005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:542657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016633 biolink:NamedThing obsolete thrombotic disorder due to a constitutional coagulation factors defect tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:248361|UMLS:CN226983 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:248361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D051642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398723007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188734009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9713002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0028743 biolink:NamedThing obsolete dysostosis with brachydactyly with extraskeletal manifestations tmpte7i6ely_mondo_relaxed.owl Orphanet:498454 True owl:Class NCIT:C34445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423793008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN118835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233947005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/leiomyosarcoma.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57190000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2089002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126778001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64366002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254980001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766888002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015673 biolink:NamedThing obsolete rare cardiac tumor OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare heart neoplasm MONDO:0021209 Orphanet:168194 UMLS:C0018809 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:2994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2732267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:562639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188263008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015576 biolink:NamedThing obsolete rare viral disease OBSOLETE. Rare viral disease. tmpte7i6ely_mondo_relaxed.owl rare viral disease|rare viral infectious disease MONDO:0005108 Orphanet:163585|UMLS:CN199939 UMLS:C0042740|UMLS:C0042769 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:2978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267653001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C102979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91935009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13758004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015118 biolink:NamedThing obsolete rare pulmonary disease tmpte7i6ely_mondo_relaxed.owl Orphanet:101944 MONDO:0005275|MONDO:0005087 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016679 biolink:NamedThing obsolete rare tumor of neuroepithelial tissue OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare neuroepithelial neoplasm MONDO:0021193 Orphanet:251558 UMLS:C0206715 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0206640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715668008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:281103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1744708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:437572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018727 biolink:NamedThing obsolete immunodeficiency due to a complement regulatory deficiency tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:459348 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' MONDO:0003778 True owl:Class ORPHA:459348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13507004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18109005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188664008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/232900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59292006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020222 biolink:NamedThing obsolete rare disease with glaucoma as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:98638|UMLS:CN207054 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:98638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723359002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0451641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0112199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234947003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3274137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44279002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446989009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016132 biolink:NamedThing obsolete rare hereditary disease with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:207015 UMLS:C0392553 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D004383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:235832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:504476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN072455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS112240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39640004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444691002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:235936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:294705005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:388980004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717047007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2746066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0856823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1563706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015896 biolink:NamedThing obsolete rare hypoparathyroidism OBSOLETE. Rare hypoparathyroidism. tmpte7i6ely_mondo_relaxed.owl rare hypoparathyroidism MONDO:0001220 Orphanet:181405 ICD10:E20.9|ICD10:E20.8|UMLS:C0020626|ICD10:E20.0|ICD10:E20.1 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721073008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/152800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254116003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4318479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83883001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764523004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68092007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015920 biolink:NamedThing obsolete syndromic neurometabolic disease with X-linked intellectual disability tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200518|Orphanet:182076 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurometabolic disease' MONDO:0019058 True owl:Class ORPHA:182076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000793 biolink:NamedThing obsolete rainbow trout allergy OBSOLETE. A allergy involving a Oncorhynchus mykiss. tmpte7i6ely_mondo_relaxed.owl Oncorhynchus mykiss allergic disease|allergy of Oncorhynchus mykiss|Oncorhynchus mykiss allergy|Oncorhynchus mykiss caused allergic disease MONDO:outOfScope DOID:0060518 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14169000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307604008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40136003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715868005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3532354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4319932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN034490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237889002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015958 biolink:NamedThing obsolete rare genetic bone disease OBSOLETE. Rare genetic bone disease. tmpte7i6ely_mondo_relaxed.owl rare genetic bone disease MONDO:0005381 UMLS:CN200553|Orphanet:183524 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C3146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:393563007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231834005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85444005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42601008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718851007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:474347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:265377002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713646001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65390006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721847002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0178426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48553001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716174001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765487008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197270009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020188 biolink:NamedThing obsolete congenital absence of the eyebrow/eyelashes tmpte7i6ely_mondo_relaxed.owl Orphanet:98598 HP:0002223|HP:0000653 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class MESH:C563814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91861009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716740009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2827356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11226001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718687003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83839005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS104500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75547007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254666005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C88145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10031291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42982001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423633003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766883006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020149 biolink:NamedThing obsolete rare eye disease due to a differentiation anomaly tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207024|Orphanet:98558 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0155118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90708001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128468007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4289808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subphylum biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020091 biolink:NamedThing obsolete male infertility due to obstructive azoospermia tmpte7i6ely_mondo_relaxed.owl Male infertility due to impaired sperm transport out of scope Orphanet:98343|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class ORPHA:86846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020024 biolink:NamedThing obsolete rare infertility OBSOLETE. Rare infertility. tmpte7i6ely_mondo_relaxed.owl rare infertility disorder|rare infertility MONDO:0005047 Orphanet:98047|UMLS:CN227735 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81345003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017657 biolink:NamedThing obsolete rare paroxysmal movement disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:306768|UMLS:CN227171 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class NCIT:C6835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015981 biolink:NamedThing obsolete inherited gynecological tumor tmpte7i6ely_mondo_relaxed.owl genetic gynecological tumor|rare genetic female reproductive system tumor UMLS:CN200581|Orphanet:183734 True owl:Class UMLS:CN200581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1299237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719818007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399314004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0026856 biolink:NamedThing obsolete homosexuality 1 tmpte7i6ely_mondo_relaxed.owl Sexual Orientation, Male|HMS1|HOMOSEXUALITY 1 OMIM:306995 True owl:Class https://omim.org/entry/306995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73430006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54099005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015220 biolink:NamedThing obsolete syndrome with a central nervous system malformation as major feature tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN197562|Orphanet:108991 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class DOID:0110580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721838005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:529819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82053000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018291 biolink:NamedThing obsolete congenital disorder of glycosylation with intestinal involvement tmpte7i6ely_mondo_relaxed.owl CDG with intestinal involvement out of scope ICD10:E77.8|Orphanet:371188 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' MONDO:0015286 True owl:Class SNOMEDCT:60750009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86638007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69397000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713516007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373436002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019049 biolink:NamedThing obsolete rare dystonia OBSOLETE. Rare dystonia. tmpte7i6ely_mondo_relaxed.owl rare dystonic disorder|rare dystonia|rare dystonia (disease) MONDO:0003441 Orphanet:68363 UMLS:C0393593 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239805001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3830518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006562 biolink:NamedThing obsolete incontinentia pigmenti achromians tmpte7i6ely_mondo_relaxed.owl incontinentia pigmenti syndrome|incontinentia pigmenti achromians syndrome MONDO:0010302 SCTID:218358001|EFO:1000716|MESH:D010859 True owl:Class SNOMEDCT:218358001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92129006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68158006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3898472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766709000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192760003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3398004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0041440 biolink:NamedThing obsolete functional visual loss tmpte7i6ely_mondo_relaxed.owl nonphysiologic acuity loss|nonphysiologic vision loss|functional visual loss UMLS:C0730512|SCTID:313165001 True owl:Class SNOMEDCT:313165001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3807327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403906006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707273001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0436545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:189815007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719212004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D061686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24743004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111475002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:200993008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/240400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:244242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C166372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1857830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92464009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717785002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:strain biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D030321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715647007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443250000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230790004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D028226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6738008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:17885001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:99131000119108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010394 biolink:NamedThing obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010275 OMIM:300660 True owl:Class https://omim.org/entry/300660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80880002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:497737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1394919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235623002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019987 biolink:NamedThing obsolete congenital and infantile nephrotic syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:97556 True owl:Class ORPHA:97556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721845005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0086649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82236004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719823007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019747 biolink:NamedThing obsolete hematological disorder with renal involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:93614|UMLS:CN227684 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hematologic disease' MONDO:0005570 True owl:Class SNOMEDCT:129000002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719980006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017122 biolink:NamedThing obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN202475|Orphanet:269573 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN202475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5050001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017261 biolink:NamedThing obsolete systemic diseases with panuveitis tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN202779|Orphanet:280933 This is a grouping class that is considered out of scope. MONDO:0017255 True owl:Class ORPHA:269224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20842008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:505208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715219001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764940002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015937 biolink:NamedThing obsolete rare inflammatory eye disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:182214|UMLS:CN200527 UMLS:C0014236 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0015918 biolink:NamedThing obsolete rare neurodegenerative disease OBSOLETE. Rare neurodegenerative disease. tmpte7i6ely_mondo_relaxed.owl rare neurodegenerative disease MONDO:0005559 Orphanet:182070 UMLS:C0524851 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4225268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707530009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715755008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237964009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720600004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109965004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016628 biolink:NamedThing obsolete hemorrhagic disorder due to a coagulation factors defect tmpte7i6ely_mondo_relaxed.owl rare coagulopathy due to a coagulation factor defect|rare bleeding disorder due to a coagulation factors defect out of scope UMLS:CN226979|Orphanet:248315 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemorrhagic disease' MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10064963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763408003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2349425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:25 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6111009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:59 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267550008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3642344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3551716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/124950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91954009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015143 biolink:NamedThing obsolete rare movement disorder OBSOLETE. Rare movement disorder. tmpte7i6ely_mondo_relaxed.owl rare movement disorder MONDO:0005395 Orphanet:102003 UMLS:C0026650 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1335299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444558002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:505652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111568001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS147920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:704166007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0750903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:tribe biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4556007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720466001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703268008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C60781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#speculative biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl A hypothesized disease whose existence is speculative owl:AnnotationProperty MESH:D054067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0519037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88996004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74333002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0865093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/congenital.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7810004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1377904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239020008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0007435 biolink:NamedThing obsolete Diffuse palmoplantar keratoderma tmpte7i6ely_mondo_relaxed.owl HP:0007447 True human_phenotype owl:Class UMLS:C1865019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011910 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1C tmpte7i6ely_mondo_relaxed.owl MONDO:0019947 ICD10:G71.0|SCTID:719986000|MESH:C563362|OMIM:607801|DOID:0110302|GARD:0012527|UMLS:C1832567|Orphanet:265|NCIT:C148318 True owl:Class ORPHA:265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363351006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002144 biolink:NamedThing obsolete hyperuricemia tmpte7i6ely_mondo_relaxed.owl blood urate raized|uricacidemia|hyperuricemia|obsolete hyperuricemia (disease) obsolete hyperuricemia (disease) HP:0002149 UMLS:C0740394|EFO:0009104|MESH:D033461|SCTID:35885006|NCIT:C3961|DOID:1920|ICD9:790.6 True owl:Class MESH:D033461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN117960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:425657001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:C1535926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020139 biolink:NamedThing obsolete early-onset ataxia with dementia tmpte7i6ely_mondo_relaxed.owl Orphanet:98539 True owl:Class ORPHA:98539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238902007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015893 biolink:NamedThing obsolete rare hypothyroidism OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare hypothyroidism MONDO:0005420 Orphanet:181396 UMLS:C0020676 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1334600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17741008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0947939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398264003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725587007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3711381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37471005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015894 biolink:NamedThing obsolete rare hyperthyroidism OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare hyperthyroidism MONDO:0004425 Orphanet:181399 ICD10:E05.5|ICD10:E05.0|ICD10:E05.3|ICD10:E05.4|ICD10:E05.2|ICD10:E05.9|ICD10:E05.1|UMLS:C0020550|ICD10:E05.8 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:181399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/232800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717331000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015507 biolink:NamedThing obsolete rare genetic hepatic disease OBSOLETE. Rare genetic liver disease. tmpte7i6ely_mondo_relaxed.owl rare genetic liver disease MONDO:0005154 Orphanet:156601|UMLS:CN199640 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:420835009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204113001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7163005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0395818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1527304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709282004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722477003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3854437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000589 biolink:NamedThing OBO foundry unique label An alternative name for a class or property which is unique across the OBO Foundry. tmpte7i6ely_mondo_relaxed.owl GROUP:OBO Foundry The intended usage of that property is as follow: OBO foundry unique labels are automatically generated based on regular expressions provided by each ontology, so that SO could specify unique label = 'sequence ' + [label], etc. , MA could specify 'mouse + [label]' etc. Upon importing terms, ontology developers can choose to use the 'OBO foundry unique label' for an imported term or not. The same applies to tools . OBO foundry unique label PERSON:Bjoern Peters|PERSON:Melanie Courtot|PERSON:Chris Mungall|PERSON:Alan Ruttenberg owl:AnnotationProperty UMLS:C3806746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017650 biolink:NamedThing obsolete rare myoclonus tmpte7i6ely_mondo_relaxed.owl MONDO:0005395 Orphanet:306747|UMLS:CN227170 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C131087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3723001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718756005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46699001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020097 biolink:NamedThing obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature. tmpte7i6ely_mondo_relaxed.owl autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal recessive MONDO:outOfScope UMLS:CN207000|Orphanet:98357 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN207000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:parvorder biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018104 biolink:NamedThing obsolete Torg-Winchester syndrome tmpte7i6ely_mondo_relaxed.owl Winchester syndrome out of scope OMIM:277950|ICD10:M89.5|Orphanet:3460|OMIM:259600 Reason: obsoleted in Orphanet, out of scope. Term to consider: MONDO:0010201. MONDO:0010201 True owl:Class https://omim.org/entry/171400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN818986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN429988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720851007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715318006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707427000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764860006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D042882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:262461007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1192004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46981006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2826783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:162516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044268 biolink:NamedThing obsolete transsexuality tmpte7i6ely_mondo_relaxed.owl TRANSSEXUALITY OMIM:600952 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/600952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020263 biolink:NamedThing obsolete spinocerebellar ataxia with oculomotor anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98693 True owl:Class UMLS:C1852062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000667.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47017007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9250002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015510 biolink:NamedThing obsolete rare genetic respiratory disease OBSOLETE. Rare genetic respiratory system disease. tmpte7i6ely_mondo_relaxed.owl rare genetic respiratory system disease MONDO:0005087 Orphanet:156610|UMLS:CN199643 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:104081000119103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234110002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70385007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015560 biolink:NamedThing obsolete classic mast cell leukemia tmpte7i6ely_mondo_relaxed.owl Orphanet:158796|ICD10:C94.3 obsoleted in Orphanet MONDO:0020334 True https://github.com/monarch-initiative/mondo/issues/2137 owl:Class ORPHA:158796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007348 biolink:NamedThing obsolete colchicine resistance tmpte7i6ely_mondo_relaxed.owl colchicine sensitivity|colchicine resistance UMLS:C1861502|OMIM:120080 True owl:Class https://omim.org/entry/120080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C2930954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718211004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63491006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711265009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187176005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:80 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237959005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39112005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54184008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4084709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70461003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254921004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5455000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4302667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020037 biolink:NamedThing obsolete rare gynecological tumor OBSOLETE. Rare female reproductive system neoplasm. tmpte7i6ely_mondo_relaxed.owl rare gynaecological neoplasm|rare gynaecological cancer|rare female reproductive system neoplasm MONDO:0021148 UMLS:CN206962|Orphanet:98063 UMLS:C0699889|UMLS:C0017416 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C110923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87837008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424413001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230454005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45744005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77182004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C91762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:202649003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS231090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1257877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:54028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444604002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40488004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30288003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28183005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#MISSPELLING biolink:NamedThing A synonym that is recorded for consistency with another source but is a misspelling tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:SynonymTypeProperty biolink:NamedThing synonym_type_property tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/615777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1533847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D062108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D00007727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725046003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/174200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN119532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10041307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020168 biolink:NamedThing obsolete kinetic eyelid anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98577 Obsolete in Orphanet MONDO:0003382 True owl:Class ORPHA:98577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015861 biolink:NamedThing obsolete rare uterine adnexal tumor tmpte7i6ely_mondo_relaxed.owl syn: Rare tumor of ovaries and fallopian tubes MONDO:outOfScope Orphanet:180220|UMLS:CN200464 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43019009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS120100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236381000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60735000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39898005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238007004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015945 biolink:NamedThing obsolete polymalformative genetic syndrome with increased risk of developing cancer OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. tmpte7i6ely_mondo_relaxed.owl PGSIRC out of scope UMLS:CN200541|Orphanet:183422 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hereditary neoplastic syndrome' MONDO:0015356 True owl:Class UMLS:CN200541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720855003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84027009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008220 biolink:NamedThing obsolete pepsinogen 3, group 1 tmpte7i6ely_mondo_relaxed.owl pepsinogen I--second locus|pepsinogen 3, group I|PGA3|pepsinogen 3, Group type 1 OMIM:169710 This entity is not a disease. True https://github.com/monarch-initiative/mondo/issues/2521 owl:Class https://omim.org/entry/169710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3489398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C77529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:33559001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015506 biolink:NamedThing obsolete rare syndrome with cardiac malformations tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN199638|Orphanet:156532 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN168656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020264 biolink:NamedThing obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98694 True owl:Class UMLS:C0022603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70572005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:708672004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015919 biolink:NamedThing obsolete syndromic neurometabolic disease with non-X-linked intellectual disability tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:182073|UMLS:CN200517 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurometabolic disease' MONDO:0019058 True owl:Class SNOMEDCT:763531001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018389 biolink:NamedThing obsolete male infertility due to gonadal dysgenesis or sperm disorder tmpte7i6ely_mondo_relaxed.owl Male infertility due to testicular dysgenesis or sperm disorder out of scope ICD10:N46|UMLS:CN227337|Orphanet:399764 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class SNOMEDCT:715825009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2981712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:450956008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0853688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403767009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36653000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:542310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400179000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48573006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:55880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92220004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020029 biolink:NamedThing obsolete rare genetic cardiac disease OBSOLETE. Rare genetic heart disease. tmpte7i6ely_mondo_relaxed.owl rare genetic heart disease MONDO:0005267 Orphanet:98054|UMLS:CN206954 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:49723003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126692004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60258001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448227009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719583002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716380002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722109008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018294 biolink:NamedThing obsolete congenital disorder of glycosylation with nephropathy as a major feature tmpte7i6ely_mondo_relaxed.owl CDG with nephropathy as a major feature MONDO:outOfScope Orphanet:371207 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/618825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85005007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0887846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:agro.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3872845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018627 biolink:NamedThing obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:443287|UMLS:CN237670 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: ACTH-independent Cushing syndrome' MONDO:0020529 True owl:Class UMLS:C0346440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007464 biolink:NamedThing obsolete isolated distichiasis OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. tmpte7i6ely_mondo_relaxed.owl distichiasis|eyelashes, two rows of ICD10:Q10.3|SCTID:95339000|ICD9:743.63|Orphanet:99177|OMIM:126300 HP:0009743 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:99177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:181428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80126007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:178935009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719578005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009317 biolink:NamedThing obsolete nonphotosensitive trichothiodystrophy OBSOLETE. A trichothiodystrophy that is non-photosensitive tmpte7i6ely_mondo_relaxed.owl obsolete in Orphanet Orphanet:1245 MONDO:0018053 True https://github.com/monarch-initiative/mondo/issues/2852 owl:Class ORPHA:1245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3838860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64586002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015332 biolink:NamedThing obsolete rare developmental defect with connective tissue involvement tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:139030|UMLS:CN199362 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:2749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193137006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:527450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016137 biolink:NamedThing obsolete acute and subacute inflammatory demyelinating polyneuropathy tmpte7i6ely_mondo_relaxed.owl acute and subacute inflammatory demyelinating polyradiculoneuropathy out of scope Orphanet:207038 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired peripheral neuropathy' MONDO:0015923 True owl:Class UMLS:CN197542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62999006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11380006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36753006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D034321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9389005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D024821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36985004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:2338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C173543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018400 biolink:NamedThing obsolete rare female infertility due to an adrenal disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:399849|UMLS:CN227346 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7847004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715430001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30811009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3745000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84619001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91038008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C153179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17157001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51254007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237833006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C71060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C88413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016254 biolink:NamedThing obsolete rare variants of adenocarcinoma of the corpus uteri tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:C54.1|Orphanet:213574|UMLS:CN201043 MONDO:0003629 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:CN201043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subcohort biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C100051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416402001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:370143000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C3264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76272004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015658 biolink:NamedThing obsolete cerebral diseases of vascular origin with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:166487|UMLS:CN200067 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: nervous system disorder' MONDO:0005071 True owl:Class MONDO:0015939 biolink:NamedThing obsolete systemic autoimmune disease OBSOLETE. An autoimmune form of systemic disease. tmpte7i6ely_mondo_relaxed.owl autoimmune systemic disease out of scope UMLS:CN200529|Orphanet:182228 This is a grouping class that is considered out of scope. MONDO:0007179 True owl:Class ORPHA:988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61772003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733418003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30168008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10035083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0520947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3889636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55925001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11442006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38837006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52330001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS276900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0598790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763794005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205481009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46085004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10031280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725413002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015897 biolink:NamedThing obsolete rare hyperparathyroidism OBSOLETE. Rare hyperparathyroidism. tmpte7i6ely_mondo_relaxed.owl rare hyperparathyroidism MONDO:0001741 Orphanet:181408 UMLS:C0020502|ICD10:E21.2|ICD10:E21.3|ICD10:E21.0|ICD10:E21.1 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C565817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017259 biolink:NamedThing obsolete systemic diseases with anterior uveitis tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:280926|UMLS:CN202777 This is a grouping class that is considered out of scope. MONDO:0006651 True owl:Class UMLS:C3550903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020786 biolink:NamedThing obsolete short sleep, familial natural, 2 tmpte7i6ely_mondo_relaxed.owl SHORT SLEEP, FAMILIAL NATURAL, 2|FNSS2 OMIM:618591 True owl:Class https://omim.org/entry/618591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86081009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018928 biolink:NamedThing obsolete rare hepatic disease OBSOLETE. Rare liver disease. tmpte7i6ely_mondo_relaxed.owl rare liver disease MONDO:0005154 Orphanet:57146|UMLS:CN205315 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0014179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:26106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:59305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38708003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018558 biolink:NamedThing obsolete syndrome with woolly hair tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:434809 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class MEDDRA:10037375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023072 biolink:NamedThing obsolete envenomization by Bothrops lanceolatus tmpte7i6ely_mondo_relaxed.owl Envenomization by the Martinique lancehead viper GARD:0002131|Orphanet:1939 True https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus owl:Class DOID:7134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26121002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019997 biolink:NamedThing obsolete rare gastroenterologic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 Orphanet:97935|UMLS:CN206933 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D028361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190919008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716593008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67247008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4330695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79177001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:43393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2242854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020227 biolink:NamedThing obsolete systemic disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98643|UMLS:C0339369 This is a grouping class that is considered out of scope. MONDO:0005129 True owl:Class ORPHA:98643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445238008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204942005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69741000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4512053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237977000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717276003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020035 biolink:NamedThing obsolete rare otorhinolaryngologic tumor tmpte7i6ely_mondo_relaxed.owl rare ORL cancer|rare ORL tumor|rare ORL neoplasm MONDO:outOfScope Orphanet:98061|UMLS:CN206960 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:400210000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0159006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015122 biolink:NamedThing obsolete rare diabetes mellitus OBSOLETE. Rare diabetes mellitus. tmpte7i6ely_mondo_relaxed.owl rare diabetes mellitus|rare diabetes mellitus (disease) MONDO:0005015 Orphanet:101952|UMLS:CN226600 UMLS:C0011860|UMLS:C0011849 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/311360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1608983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765330003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43891009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000006.12 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763400005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62497000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722379001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699306003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239140003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024248 biolink:NamedThing obsolete pityriasis OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) tmpte7i6ely_mondo_relaxed.owl Pityriases MESH:D010915|SCTID:34630004|ICD9:696.5 True owl:Class MESH:D010915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D021782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS142623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61530001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410056006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74460005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78267003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22996003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2937245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016180 biolink:NamedThing obsolete hematological disease associated with an acquired peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200930|Orphanet:209016 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease MONDO:0005570 True owl:Class UMLS:C1858990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0919797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722292000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72294005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186968004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0476121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64540004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371965009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:422541001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254831005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127014009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1320640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS136500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:412181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34831003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015968 biolink:NamedThing obsolete rare genetic hypothalamic or pituitary disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200567|Orphanet:183628 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:2885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:576379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719044008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195381005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1142166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389272007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000019.10 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28689008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015847 biolink:NamedThing obsolete rare vaginal malformation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:180151|UMLS:CN226752 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715776003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1956089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71941009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1829003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1273017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5689008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017020 biolink:NamedThing obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease tmpte7i6ely_mondo_relaxed.owl secondary ILD specific to childhood associated with a systemic disease out of scope Orphanet:264699|UMLS:CN202333 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class ORPHA:264699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10031231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6273006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0860168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:570422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019298 biolink:NamedThing obsolete rare urticaria OBSOLETE. Rare urticaria. tmpte7i6ely_mondo_relaxed.owl rare urticaria (disease)|rare hives|rare urticaria MONDO:0005492 Orphanet:79384 This class may be obsoleted in future. Note that ORDO classifies this as rare allergic disease, but urticara may be autoimmune UMLS:C0042109 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4225186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702318008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15350006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015931 biolink:NamedThing obsolete rare urogenital tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0005070 UMLS:CN200523|Orphanet:182114 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:182114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/230900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67787004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85020001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35247001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019853 biolink:NamedThing obsolete congenital hypothyroidism due to developmental anomaly OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpte7i6ely_mondo_relaxed.owl primary congenital hypothyroidism due to developmental anomaly out of scope ICD10:E03.1|Orphanet:95711 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. True https://github.com/monarch-initiative/mondo/issues/3886 owl:Class ORPHA:95711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70486007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255096006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018833 biolink:NamedThing obsolete rare idiopathic macular telangiectasia tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:482092|UMLS:CN776863 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN776863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50455002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724099000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24526004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C89506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:722281001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24704003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10004073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C90599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044276 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 11 tmpte7i6ely_mondo_relaxed.owl Melanesian blond hair|skin/hair/eye pigmentation, variation IN, 11|SHEP11|skin/hair/eye pigmentation 11, blue/Nonblue eyes OMIM:612271 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/612271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419455006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21634003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726706008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2772003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83264000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017158 biolink:NamedThing obsolete pulmonary hypertension with unclear multifactorial mechanism tmpte7i6ely_mondo_relaxed.owl PH with unclear multifactorial mechanism out of scope Orphanet:275844 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class SNOMEDCT:254064009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2959367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716662004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404032008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254290004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703537008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703532002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237885008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C88026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:25065001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124274002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205082007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63247009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109888004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52457000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Arabidopsis biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/303100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000016.10 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302872003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126970001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS162000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66751000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449790007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012461 biolink:NamedThing obsolete bulimia nervosa, susceptibility to, 2 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011846 OMIM:610269 True https://github.com/monarch-initiative/mondo/issues/1705 owl:Class NCIT:C128343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722036008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80773006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76267008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015984 biolink:NamedThing obsolete rare genetic immune disease OBSOLETE. Rare genetic immune system disease. tmpte7i6ely_mondo_relaxed.owl rare genetic immune system disease MONDO:0005046 UMLS:CN200582|Orphanet:183770 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700467001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:0110871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017016 biolink:NamedThing obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder tmpte7i6ely_mondo_relaxed.owl primary ILD specific to childhood due to alveolar structure disorder out of scope UMLS:CN202327|Orphanet:264670 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class ORPHA:264670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717811007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716594002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0520680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023807 biolink:NamedThing obsolete midphalangeal hair tmpte7i6ely_mondo_relaxed.owl midphalangeal hair|Middigital hair GARD:0009992|MESH:C537471|OMIM:157200 True owl:Class MESH:C537471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4049006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0887866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019038 biolink:NamedThing obsolete rare maxillo-facial surgical disease tmpte7i6ely_mondo_relaxed.owl rare maxillofacial anomaly MONDO:outOfScope UMLS:CN205523|Orphanet:68329 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:720599002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020241 biolink:NamedThing obsolete unclassified familial retinal dystrophy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227835|Orphanet:98662 MONDO:0019118 True owl:Class UMLS:CN227835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015928 biolink:NamedThing obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease tmpte7i6ely_mondo_relaxed.owl CTD-ILD|secondary ILD in childhood and adulthood associated with a connective tissue disease out of scope Orphanet:182104|UMLS:CN200522 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class UMLS:CN207066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111196000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN233170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1527407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46795000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:74 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C86969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707407001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254889004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017432 biolink:NamedThing obsolete syndrome with limb reduction defects tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:294955|UMLS:CN203180 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class DOID:184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0030016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/616221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733520002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92318000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0743332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715665006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:290653008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4054526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61974008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:49382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020003 biolink:NamedThing obsolete rare surgical cardiac disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 UMLS:CN206936|Orphanet:97965 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254703005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402792003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126978008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:6712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015948 biolink:NamedThing obsolete rare genetic skin vascular disorder tmpte7i6ely_mondo_relaxed.owl genetic skin vascular disorder MONDO:0000001 UMLS:CN200545|Orphanet:183478 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:79194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359714009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87433001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015319 biolink:NamedThing obsolete rare disease with Pierre Robin syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:138044|UMLS:CN199290 UMLS:C0031900 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:138044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN073987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0375200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49428008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410059004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:519410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69494008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719041000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723611008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23247008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:250932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015965 biolink:NamedThing obsolete rare genetic refraction anomaly tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226813|Orphanet:183601 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:363489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C51224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:104075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0259820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010330 biolink:NamedThing obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. tmpte7i6ely_mondo_relaxed.owl retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness out of scope MESH:C567595|OMIM:300455|Orphanet:247522|UMLS:C2749137 Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term. True https://github.com/monarch-initiative/mondo/issues/3898 owl:Class SNOMEDCT:127034005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80093006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720626009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3247204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/174900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40787005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65976001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711156009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015891 biolink:NamedThing obsolete hypogonadotropic hypogonadism associated with other endocrinopathies tmpte7i6ely_mondo_relaxed.owl Orphanet:181390 True owl:Class ORPHA:93623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253176002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230284004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48528004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118938008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0577625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764944006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721879006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:420932006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS188550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1327919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237072009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:66646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715337002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233958001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:412206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN282827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017378 biolink:NamedThing obsolete polymicrogyria-turricephaly-hypogenitalism syndrome tmpte7i6ely_mondo_relaxed.owl Orphanet:2925|UMLS:CN227120|ICD10:Q87.8 Obsolete in Orphanet MONDO:0000087 True owl:Class UMLS:CN227120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387712008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0563212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018286 biolink:NamedThing obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature tmpte7i6ely_mondo_relaxed.owl non-X-linked CDG with intellectual disability as a major feature MONDO:outOfScope Orphanet:371064 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:3368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020101 biolink:NamedThing obsolete constitutional hemolytic anemia due to membrane defect OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. tmpte7i6ely_mondo_relaxed.owl anemia due to membrane defect|hemolytic anemia due to membrane defect|hemolytic anemia due to erythrocyte membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly out of scope NCIT:C101218|SCTID:111575000|Orphanet:98364|UMLS:CN227780 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' MONDO:0003664 True owl:Class UMLS:CN227780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389263004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019097 biolink:NamedThing obsolete hemorrhagic disorder due to a constitutional platelet anomaly OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth. tmpte7i6ely_mondo_relaxed.owl rare coagulopathy due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional platelet anomaly|rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a constitutional platelet anomaly MONDO:outOfScope Orphanet:71202|UMLS:CN227572 ICD10:D69.1 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416769008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0555197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0406816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:179006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254629004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764711007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400211001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126792007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403900000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS221900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:270505009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3160720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768927001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724000006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82323002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48069004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/phenotypicSeries/PS184450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018505 biolink:NamedThing obsolete rare tumor of small intestine OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare small intestine neoplasm|rare tumor of small bowel MONDO:0004251 UMLS:CN237510|Orphanet:423793 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:423793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63402005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254557000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/149730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700364009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80711002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:94146005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198297004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399165002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:42642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4048196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://en.wikipedia.org/wiki/Fungus#In_food biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:555905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4085250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254960002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044976 biolink:NamedThing obsolete disease of catalytic activity tmpte7i6ely_mondo_relaxed.owl enzyme disorder|enzymopathy out of scope UMLS:C0520572|SCTID:78548001 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:C0520572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020742 biolink:NamedThing obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome tmpte7i6ely_mondo_relaxed.owl CAMAK syndrome|cataract, microcephaly, arthrogryposis, kyphosis syndrome|cataract-microcephaly-failure to thrive-kyphoscoliosis|cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome|CAMFAK syndrome MONDO:0008926 OMIM:212540|Orphanet:1317|MESH:C537965|GARD:0001060 See https://github.com/monarch-initiative/mondo/issues/763 True https://rarediseases.info.nih.gov/diseases/1060/cataract-microcephaly-failure-to-thrive-kyphoscoliosis owl:Class MESH:C537965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722391005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702384004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403996004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1257763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36259009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018038 biolink:NamedThing obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells tmpte7i6ely_mondo_relaxed.owl Orphanet:331232 True owl:Class SNOMEDCT:720602007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN737163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253330006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8635005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018730 biolink:NamedThing obsolete rare genetic venous malformation OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic rare venous malformation MONDO:outOfScope UMLS:CN241790|Orphanet:459548 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:459548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717183001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1207009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41659003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:0070046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:63235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:CN242143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015916 biolink:NamedThing obsolete rare neuroinflammatory or neuroimmunological disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:182064|UMLS:CN200514 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:399572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1513782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020100 biolink:NamedThing obsolete rare hemolytic anemia OBSOLETE. Rare hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl rare hemolytic anemia MONDO:0003664 Orphanet:98363 UMLS:C0002878 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1513365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187716008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN461628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266254007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C110942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702816000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14756005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126949007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3267131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019304 biolink:NamedThing obsolete rare photodermatosis tmpte7i6ely_mondo_relaxed.owl rare skin photosensitivity MONDO:outOfScope UMLS:C0920193|Orphanet:79390 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0043346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720565000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000792 biolink:NamedThing obsolete zebrafish allergy tmpte7i6ely_mondo_relaxed.owl DOID:0060517 True owl:Class DOID:0060517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719688002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716862002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0457014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29633007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367649002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1482004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188154003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:65 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C115149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20824003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716787002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019744 biolink:NamedThing obsolete rare renal tubular disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:93603 UMLS:C0151747 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:126676009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62522004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126881002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720518006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14760008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46619002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1695985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419893006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717752005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0856825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0002116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:189427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19058002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:220295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/117650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017646 biolink:NamedThing obsolete neurodegenerative disease with chorea tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:306719|UMLS:CN203538 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' MONDO:0005559 True owl:Class SNOMEDCT:28466007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254150007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:63844009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1706827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373945007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS253310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3697477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017153 biolink:NamedThing obsolete pulmonary arterial hypertension associated with HIV infection OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. tmpte7i6ely_mondo_relaxed.owl PAH associated with HIV infaction out of scope UMLS:C3697673|SCTID:697904001|EFO:0009194|ICD9:416.8|ICD10:I27.2|Orphanet:275808 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class ORPHA:275808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716766007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:45453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57602001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN233040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0040797 biolink:NamedThing obsolete vascular headache OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS). tmpte7i6ely_mondo_relaxed.owl vascular headache UMLS:C0042376|SCTID:128187005|MESH:D014653 True owl:Class MESH:D014653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193497004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019706 biolink:NamedThing obsolete lysosomal storage disease with skeletal involvement tmpte7i6ely_mondo_relaxed.owl dysostosis multiplex out of scope SCTID:254069004|Orphanet:93448|UMLS:CN206618|ICD9:756.9 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' MONDO:0002561 True owl:Class ORPHA:209902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724648008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254828009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91968002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017643 biolink:NamedThing obsolete frontotemporal neurodegeneration with movement disorder tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:306708|UMLS:CN227167 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' MONDO:0005559 True owl:Class UMLS:C1836027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0848558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764454003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716746003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766980008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718180000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84209002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446995005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-9990-8331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230769007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006475 biolink:NamedThing obsolete unclassified renal cell carcinoma OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. tmpte7i6ely_mondo_relaxed.owl URCC|unclassified renal cell cancer|unclassified renal cell carcinoma out of scope UMLS:C1336853|EFO:1000603|NCIT:C27892|ONCOTREE:URCC MONDO:0005086 True owl:Class UMLS:C1336853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765195000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709044004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68640004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43878008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0405469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MESH:C566109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018032 biolink:NamedThing obsolete constitutional neutropenia with extra-hematopoietic manifestations tmpte7i6ely_mondo_relaxed.owl Orphanet:331184 True owl:Class MESH:C538069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95797003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3160740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95416007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018410 biolink:NamedThing obsolete rare genetic female infertility tmpte7i6ely_mondo_relaxed.owl MONDO:0021124 UMLS:CN227353|Orphanet:400008 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707272006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717061002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718573009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4084770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18756002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65764006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713609000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2213246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707673006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389165004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0348287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205548006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363431006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C103144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C14089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C112200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2349952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1318551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89000008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702361006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020095 biolink:NamedThing obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature. tmpte7i6ely_mondo_relaxed.owl autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|autosomal dominant disease with focal palmoplantar keratoderma as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal dominant MONDO:outOfScope UMLS:CN206999|Orphanet:98353 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:96369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C153289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129636003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253137003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C153174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63440008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194339007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:486811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14087004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2674723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36921006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:26792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254678009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74944002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70129008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232057003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0004872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1858108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020026 biolink:NamedThing obsolete rare female infertility OBSOLETE. Rare female infertility. tmpte7i6ely_mondo_relaxed.owl rare female infertility MONDO:0021124 Orphanet:98049|UMLS:CN227737 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198029003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373621006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016334 biolink:NamedThing obsolete neuromuscular disease with dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN201165|Orphanet:217610 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neuromuscular disease' MONDO:0019056 True owl:Class UMLS:CN201165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS200600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4048705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719521002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN230757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715201005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:247479008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267513007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111502003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10073002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0018251 biolink:NamedThing obsolete glycogen storage disease due to phosphorylase kinase deficiency OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. tmpte7i6ely_mondo_relaxed.owl glycogenosis type 9|glycogen storage disease due to PhK deficiency|glycogenosis type IX|GSD IX|GSD due to phosphorylase kinase deficiency|glycogen storage disease IX|glycogen storage disease type IX|glycogen storage disease type 9|GSD type IX|glycogenosis due to phosphorylase kinase deficiency|GSDIX|GSD type 9|gycogenosis due to PhK deficiency|phosphorylase kinase deficiency out of scope MESH:C580130|NCIT:C122662|UMLS:C0268147|Orphanet:370|SCTID:40191005|ICD10:E74.0|DOID:0050594|SCTID:235908005 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' MONDO:0002412 True owl:Class UMLS:C0268147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29731002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445492005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722231005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42386007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239076000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363359008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008574 biolink:NamedThing obsolete Tl antigen tmpte7i6ely_mondo_relaxed.owl histocompatibility 2, T-region locus 18|Thymus leukemia antigen|Tl antigen OMIM:188850 True owl:Class https://omim.org/entry/188850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:22 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D031261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95646004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19750001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707672001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95840007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718555006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3838758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:269485000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4311047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020201 biolink:NamedThing obsolete conjunctival telangiectasia tmpte7i6ely_mondo_relaxed.owl obsolete conjunctival telangiectasia (disease)|conjunctival telangiectasia obsolete conjunctival telangiectasia (disease) MedDRA:10072143|Orphanet:98613|HP:0000524|UMLS:C0239105 Obsolete in Orphanet MONDO:0006170 True owl:Class MEDDRA:10072143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4316815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008074 biolink:NamedThing obsolete nerve growth factor, alpha subunit tmpte7i6ely_mondo_relaxed.owl nerve growth factor, ALPHA SUBUNIT|nerve growth factor, alpha subunit|NGFA out of scope OMIM:162020 True https://github.com/monarch-initiative/mondo/issues/3358 owl:Class https://omim.org/entry/162020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2704003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363404008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020169 biolink:NamedThing obsolete rare disorder with ptosis tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:98578|UMLS:CN207031 UMLS:C0033377|MESH:D001763|MedDRA:10037272|UMLS:C0005745|MedDRA:10015995 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0391816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37548006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733522005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000857 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 7 OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. tmpte7i6ely_mondo_relaxed.owl DOID:0080069 True owl:Class DOID:0080069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14783006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C112199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702373006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234541006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1707525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233964008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18842008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020063 biolink:NamedThing obsolete malformation syndrome with hamartosis tmpte7i6ely_mondo_relaxed.owl Dysmorphologic diseases with phakomatosis out of scope Orphanet:98196|UMLS:CN206967 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' MONDO:0019755 True owl:Class MESH:D012876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5089007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719979008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D041881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720634003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/202155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D063647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609579009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79268002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37042000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:110005000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015963 biolink:NamedThing obsolete inherited renal tumor tmpte7i6ely_mondo_relaxed.owl genetic renal tumor Orphanet:183595|UMLS:CN200562 True owl:Class https://omim.org/entry/610247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237467005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017141 biolink:NamedThing obsolete hemorrhagic disorder due to a constitutional thrombocytopenia tmpte7i6ely_mondo_relaxed.owl rare bleeding disorder due to a quantitative platelet defect|rare coagulopathy due to a quantitative platelet defect|rare coagulopathy due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare bleeding disorder due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect out of scope UMLS:CN227098|Orphanet:275729 MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class SNOMEDCT:77116006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191816009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN971653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018404 biolink:NamedThing obsolete rare genetic male infertility OBSOLETE. Rare genetic male infertility. tmpte7i6ely_mondo_relaxed.owl rare genetic male infertility MONDO:0005372 UMLS:CN227349|Orphanet:399980 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0153957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716245003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234062003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1709457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019096 biolink:NamedThing obsolete rare pulmonary hypertension OBSOLETE. Rare pulmonary hypertension. tmpte7i6ely_mondo_relaxed.owl rare pulmonary hypertension MONDO:0005149 Orphanet:71198|UMLS:CN227571 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D012553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766237006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1802405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32595002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D038921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3540852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:superclass biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:472905007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766979005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015582 biolink:NamedThing obsolete rare disorder related with pregnancy, childbirth and puerperium OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare pregnancy disorder MONDO:0024575 UMLS:CN226708|Orphanet:163637 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/617251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0494491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1264041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67895005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0400964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0456845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10046752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017637 biolink:NamedThing obsolete rare parkinsonian syndrome due to intoxication tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN203533|Orphanet:306679 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/255600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C60989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47040006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715479009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3716002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38341003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1283400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN807948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277656005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:570762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54627004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230260007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8098009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79336007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0458224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0028737 biolink:NamedThing obsolete biliary atresia disorder tmpte7i6ely_mondo_relaxed.owl redundant Orphanet:498345|HP:0005912 MONDO:0008867 True https://github.com/monarch-initiative/mondo/issues/2717 owl:Class ORPHA:498345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719973009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445448008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42402006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45163000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020094 biolink:NamedThing obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature. tmpte7i6ely_mondo_relaxed.owl autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant MONDO:outOfScope Orphanet:98352|UMLS:CN206998 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN202004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722870008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702418009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236818008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015954 biolink:NamedThing obsolete rare genetic headache disorder tmpte7i6ely_mondo_relaxed.owl rare genetic headache MONDO:0021146 Orphanet:183509|UMLS:CN226801 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0521744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764629008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C60785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D041761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03000004 biolink:NamedThing obsolete: green mud crab tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C35659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59275002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26538006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724098008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196731005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MESH:D016137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0700367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN160484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404026003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4317154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C40138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015218 biolink:NamedThing obsolete syndromic developmental defect of the eye OBSOLETE. A developmental defect of the eye that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye out of scope Orphanet:108987|UMLS:CN226635 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: eye disease' MONDO:0005328 True owl:Class DOID:4232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1956396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS121210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15069006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4985009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:481508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN562785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713277006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:504530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82245003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/neuroendocrine_neoplasm_grade1.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1955861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2986703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363394001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:superkingdom biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188746008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234589002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C536218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72836002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403986008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN119432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95656000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50658006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0333992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723826007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64235006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31541009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33882007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232006002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448664009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:165955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN118826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018236 biolink:NamedThing obsolete dysostosis with limb and face anomalies as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:364571 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:364571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14100003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017633 biolink:NamedThing obsolete rare intoxication due to medical products tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:306640|UMLS:CN227165 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:79474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:37612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/358137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015245 biolink:NamedThing obsolete rare intestinal disease OBSOLETE. Rare intestinal disease. tmpte7i6ely_mondo_relaxed.owl rare intestinal disease MONDO:0005020 Orphanet:117569 UMLS:C0021831 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016788 biolink:NamedThing obsolete genetic hyperferritinemia without iron overload OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. tmpte7i6ely_mondo_relaxed.owl benign hyperferritinemia out of scope SCTID:766929007|Orphanet:254704 This is a biological anomaly and not a disease. HP:0003281 True owl:Class SNOMEDCT:766929007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN570505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14366000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722008003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765751002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS145000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93473009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C34845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3266027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253170008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:229703009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D034381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4330531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254961003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92115005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127003006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62628008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:102448004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:10 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725286002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4329999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS213200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92582009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4082762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1704383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204739008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002176 biolink:NamedThing obsolete connective tissue cancer OBSOLETE. A malignant neoplasm involving the connective tissue tmpte7i6ely_mondo_relaxed.owl connective tissue cancer|neoplasm of connective tissues|connective tissue neoplasm|cancer of connective tissue|malignant connective tissue neoplasm|malignant neoplasm of connective tissue MESH:D009372|DOID:201|UMLS:C0027656|SCTID:126598008 Reason: grouping class. MONDO:0003900 True https://github.com/monarch-initiative/mondo/issues/3593 owl:Class NCIT:C84576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020098 biolink:NamedThing obsolete constitutional anemia due to iron metabolism disorder tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227778|Orphanet:98360|ICD10:D50.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited deficiency anemia' MONDO:0016624 True owl:Class UMLS:CN227778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16716281000119108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:225686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363384006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724065003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363460002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59572000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253151003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:434786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404059000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C80309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718572004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23685000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016435 biolink:NamedThing obsolete acquired dermis elastic tissue disorder with decreased elastic tissue tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:228221|UMLS:CN226928 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder' MONDO:0016434 True owl:Class UMLS:C2936880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2707005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702369008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009466 biolink:NamedThing obsolete neuronal intestinal pseudoobstruction tmpte7i6ely_mondo_relaxed.owl term split MONDO:0023961 True owl:Class https://github.com/monarch-initiative/mondo/issues/3684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52772002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:566175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724227000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201796004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3472614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016320 biolink:NamedThing obsolete rare hereditary thrombophilia tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:C2584620|Orphanet:217454 ICD10:D68.5 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:733091002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN230280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0277513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71785001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254867003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015910 biolink:NamedThing obsolete rare constitutional hemolytic anemia tmpte7i6ely_mondo_relaxed.owl rare familial constitutional hemolytic anemia|rare genetic constitutional hemolytic anemia MONDO:0003664 UMLS:CN226786|Orphanet:182043 Editor note: todo add disjointness axiom https://github.com/monarch-initiative/mondo/issues/133 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29352008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65576009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42574005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0947622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84194006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763719001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46041001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN037257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018728 biolink:NamedThing obsolete rare genetic capillary malformation tmpte7i6ely_mondo_relaxed.owl MONDO:0016231 Orphanet:459526|UMLS:CN242077 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN242077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126849006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75614007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0542564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015957 biolink:NamedThing obsolete rare genetic movement disorder OBSOLETE. Rare genetic movement disorder. tmpte7i6ely_mondo_relaxed.owl rare genetic movement disorder MONDO:0005395 UMLS:CN226803|Orphanet:183521 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:99970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86074002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018457 biolink:NamedThing obsolete rare genetic bone development disorder tmpte7i6ely_mondo_relaxed.owl rare genetic skeletal development disorder MONDO:outOfScope Orphanet:404584|UMLS:CN227376 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4330050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187741001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:763460007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:362991006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007021 biolink:NamedThing obsolete wheat allergic disease OBSOLETE. Allergic reaction to wheat that is triggered by the immune system. tmpte7i6ely_mondo_relaxed.owl allergy to wheat|allergic disease from wheat based food product|wheat based food product allergic disease|wheat allergy|wheat allergic reaction|allergy of wheat based food product MONDO:outOfScope DOID:3660|UMLS:C0949570|EFO:1001243|SCTID:420174000|MESH:D021182 ICD9:995.3 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MESH:D021182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016792 biolink:NamedThing obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA tmpte7i6ely_mondo_relaxed.owl OXPHOS disease due to a large-scale single deletion of mtDNA|mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA|OXPHOS disease due to a large-scale single deletion of mitochondrial DNA out of scope Orphanet:254767|UMLS:CN202049 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO:0016387 True owl:Class UMLS:CN202049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:cl.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21086008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49107007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32612005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005569 biolink:NamedThing obsolete cartilage disease OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). tmpte7i6ely_mondo_relaxed.owl cartilage disorder|chondropathy|disease of cartilage tissue|disease or disorder of cartilage tissue|disorder of cartilage tissue|cartilage tissue disease|cartilage tissue disease or disorder out of scope ICD10:M91-M94|DOID:1222|MESH:D002357|UMLS:C0007302|EFO:0005802|SCTID:50927007|ICD10:M94.9|ICD9:733.99 Reason: grouping class. MONDO:0003900 True https://github.com/monarch-initiative/mondo/issues/3576 owl:Class UMLS:C1334179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:281587000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4539927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3276432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:55654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715829003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3640999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1283271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:60000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001467 biolink:NamedThing obsolete specific bursitis often of occupational origin tmpte7i6ely_mondo_relaxed.owl specific bursitides often of occupational origin SCTID:42812006|DOID:12223|ICD9:727.2|UMLS:C0158332 True owl:Class SNOMEDCT:42812006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46168003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718761007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81577001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719276005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2828721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763718009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Tomato biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C126651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307597000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302954008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702949005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C42589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21098003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS177000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C575534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2032001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:20000020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000776 biolink:NamedThing obsolete metal allergy OBSOLETE. A allergy involving a metal allergen. tmpte7i6ely_mondo_relaxed.owl allergy of metal allergen|metal allergen allergic disease MONDO:outOfScope SCTID:300915004|DOID:0060501|UMLS:C0577627 ICD9:995.3 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:6217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47312008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41565005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019546 biolink:NamedThing obsolete other acquired skin disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206373|Orphanet:90077 Editor note: consider merging. True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN206373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1621958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448270009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:442652006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15170009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68905002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1285174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95414005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0001322 biolink:NamedThing obsolete Brain very small tmpte7i6ely_mondo_relaxed.owl HP:0006872 True human_phenotype owl:Class HP:0006872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719837003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019045 biolink:NamedThing obsolete rare sleep disorder OBSOLETE. A rare form of sleep disorder. tmpte7i6ely_mondo_relaxed.owl rare sleep disorder|rare sleep wake disorder|rare sleep-wake disorder MONDO:0003406 Orphanet:68354 MedDRA:10040984|MESH:D012893|UMLS:C0851578 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/615663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7111000119109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29212009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716243005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77075001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1376001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720458005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0236970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1279945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278046008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193487008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D050031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:155597006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445503007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267581004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718052004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0549622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:445038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713060000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1562894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/119100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0302327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#do_inheritance_inconsistent biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 owl:AnnotationProperty UMLS:C1832369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765137006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193031009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45142002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17170005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123596001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0520779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1720999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400115004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0994344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722453009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1533060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389264005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707441009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C150250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1812609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0240164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39462005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718766002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22199006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016104 biolink:NamedThing obsolete infectious disease with peripheral neuropathy OBSOLETE. An infectious process affecting the peripheral nerves. tmpte7i6ely_mondo_relaxed.owl peripheral nervous system infectious disorder|peripheral nerve infection out of scope UMLS:C1278821|NCIT:C27589|Orphanet:206613 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease' MONDO:0005550 True owl:Class NCIT:C27589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:D004826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238059005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0033967 biolink:NamedThing obsolete immune dysregulation with inflammatory bowel disease tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:529974 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO:0015823 True owl:Class ORPHA:529974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C3565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/138800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020032 biolink:NamedThing obsolete rare urinary tract tumor OBSOLETE. Rare urinary system benign neoplasm. tmpte7i6ely_mondo_relaxed.owl rare urinary tract cancer|rare urinary tract neoplasm|rare urinary system neoplasm MONDO:0021066 Orphanet:98058|UMLS:CN206957 Editor note: ORDO considers this benign but there are rare urinary tract tumors that are non-benign UMLS:C0042076|UMLS:C0751571 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254986007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0740083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0025169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C563291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389145006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276804009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:458833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20415001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29951006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84884003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:116021002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:105668007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044281 biolink:NamedThing obsolete c3hex, ability to smell OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}). tmpte7i6ely_mondo_relaxed.owl C3HEX, ability to smell OMIM:615082 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93527005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:396343006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715817007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237941007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:422338006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/142400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS141500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25690000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0853240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017494 biolink:NamedThing obsolete congenital absence of upper arm and forearm with hand present, unilateral tmpte7i6ely_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia, unilateral Orphanet:295085|ICD10:Q71.1 Obsolete in Orphanet MONDO:0017441 True owl:Class ORPHA:295085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:28 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:232035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92259008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62964007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235760009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399463004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020109 biolink:NamedThing obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:D51.1|UMLS:CN227785|ICD10:D51.0|ICD10:D51.2|ICD10:D51.3|Orphanet:98396|ICD10:D51.8|ICD10:D51.9 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 True owl:Class ORPHA:98396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:519392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266113007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2932716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22064009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449259009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:38 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43814000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C557815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018406 biolink:NamedThing obsolete rare male infertility due to adrenal disorder of genetic origin tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:399994|UMLS:CN227351 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:247803002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403835002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020190 biolink:NamedThing obsolete eyebrow/eyelashes distichiasis tmpte7i6ely_mondo_relaxed.owl Orphanet:98600 HP:0009743 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class https://omim.org/phenotypicSeries/PS162091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367137004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020184 biolink:NamedThing obsolete rare eyebrow/eyelashes anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98594|UMLS:CN227808 Editor note: does not align with anatomy HP:0000534|HP:0000499 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:98594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715471007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:453504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:487796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021200 biolink:NamedThing obsolete rare disease OBSOLETE. Any of the forms of disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare disease|rare disorder|rare disease or disorder|rare diseases MONDO:0000001 NCIT:C4873|MESH:D035583 At this time we do not have a formal definition but this should correspond to ORDO classification of rare diseases UMLS:C0678236 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D035583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/614934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005741 biolink:NamedThing obsolete egg allergy OBSOLETE. Allergic reaction to eggs that is triggered by the immune system. tmpte7i6ely_mondo_relaxed.owl egg allergic disease|allergy to eggs|allergy of egg MONDO:outOfScope EFO:0007248|SCTID:91930004|ICD9:V15.03|MESH:D021181|UMLS:C0559469|DOID:4377 SCTID:157802003|SCTID:213019003 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class UMLS:C0559469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:315345002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702312009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D061085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402135006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1412036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22155002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30483005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017718 biolink:NamedThing obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227185|Orphanet:309136 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class ORPHA:309136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402781004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1739395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722037004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6011000119108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722127006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721617001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:206539008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83225003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763127004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:448251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/141300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765146000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN159238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1449844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS273800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C103936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2985524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24654003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235914003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715575001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123609007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4521678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN240510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0577692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44882003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237965005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276828006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715533002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1883723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/575966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235919008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020282 biolink:NamedThing obsolete metabolic disease with macular cherry-red spot tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98714|UMLS:CN207085 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class SNOMEDCT:111565003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017023 biolink:NamedThing obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease tmpte7i6ely_mondo_relaxed.owl secondary ILD specific to childhood associated with a granulomatous disease out of scope Orphanet:264714|UMLS:CN202336 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class DOID:13922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10083939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0969753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0497243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:485275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720500008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020036 biolink:NamedThing obsolete rare nervous system tumor OBSOLETE. Rare nervous system cancer. tmpte7i6ely_mondo_relaxed.owl nervous system rare tumor|rare nervous system neoplasm|rare nervous system cancer MONDO:0021248 Orphanet:98062 UMLS:C0027766 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:230350000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:57777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0044212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:234619000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017274 biolink:NamedThing obsolete autosomal ichthyosis syndrome with other associated signs tmpte7i6ely_mondo_relaxed.owl out of scope 2022-03-01 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' MONDO:0017270|MONDO:0015947 True owl:Class SNOMEDCT:62377009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403945001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/174810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129611009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719452004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765755006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205813009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88580009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363746003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78745000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019847 biolink:NamedThing obsolete congenital adrenal hypoplasia of maternal cause tmpte7i6ely_mondo_relaxed.owl Orphanet:95701|ICD10:E27.1 Deprecated in Orphanet. MONDO:0010264 True owl:Class ORPHA:95701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188241004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011543 biolink:NamedThing obsolete BRCA3 tmpte7i6ely_mondo_relaxed.owl BRCA3|Brcax|moved to 114480|breast cancer 3 Orphanet:227535|MESH:C565336|UMLS:C1854365|OMIM:605365 See https://omim.org/entry/114480 MONDO:0016419 True https://github.com/monarch-initiative/mondo/issues/1700 owl:Class https://omim.org/entry/605365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10026456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:248408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C162472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721074002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721313009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49263001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126960003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448401007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84568007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018132 biolink:NamedThing obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. tmpte7i6ely_mondo_relaxed.owl MDDGA|lissencephaly type 2 with muscular and ocular involvement out of scope Orphanet:352687|GARD:0012588|DOID:0111229 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: muscular dystrophy-dystroglycanopathy' MONDO:0018276 True https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies owl:Class UMLS:C0026269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363497007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018288 biolink:NamedThing obsolete congenital disorder of glycosylation with hepatic involvement tmpte7i6ely_mondo_relaxed.owl CDG with hepatic involvement out of scope Orphanet:371157|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' MONDO:0015286 True owl:Class UMLS:C1333067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:300932000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254877001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81089005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722063009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400138001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418763003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2026186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:513456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/infantile.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0497556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403912001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN388854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/143100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:CN241790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194375009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:42062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:407675009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS275200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58008004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1565172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230558006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239940004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C138174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126583006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1832215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10005001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403661001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720507006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734018003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31487001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015959 biolink:NamedThing obsolete inherited syndrome with bone tumors as a major feature tmpte7i6ely_mondo_relaxed.owl genetic bone tumor MONDO:0005070 Orphanet:183527|UMLS:CN200554 This class was seeded from the ORDO genetic bone tumor class. We have renamed as this reflects the intent. See discussion here: https://github.com/Orphanet/ORDO/issues/13 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class MESH:C564162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32984002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4302243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186771002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0475813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766716004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188244007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016891 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 9 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008013 Orphanet:261929 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class ORPHA:261929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/phenotypicSeries/PS106210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011204 biolink:NamedThing obsolete cerebellar degeneration-related autoantigen 3 tmpte7i6ely_mondo_relaxed.owl Cdr3|cerebellar degeneration-related autoantigen 3|cerebellar Degeneration-related autoantigen type 3 OMIM:602197 This is not a disease. True https://github.com/monarch-initiative/mondo/issues/2522 owl:Class https://omim.org/entry/602197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723821002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233850007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720603002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719012009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733086003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN035858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19579005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70933002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89859004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10033940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111524003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1475003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254837009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69850007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS117550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763213001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0846967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716774008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186225008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78572006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0268581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/117000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389158007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718217000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725057008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232061009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C48458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4302548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023873 biolink:NamedThing obsolete Noonan-like/multiple giant cell lesion syndrome OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure. tmpte7i6ely_mondo_relaxed.owl NL/MGCLS GARD:0004006|OMIM:163955 MONDO:0012547|MONDO:0008104 True owl:Class ORPHA:248296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702360007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019595 biolink:NamedThing obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect tmpte7i6ely_mondo_relaxed.owl 46,XY DSD due to adrenal and testicular steroidogenesis defect out of scope UMLS:CN227657|Orphanet:90786 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class ORPHA:90786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10041929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS145600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127021009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86266009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699861000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92589000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765757003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444645005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237922009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32891000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363380002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39795003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191189009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415991003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0861352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS276300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68528007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92027006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:84085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C2751084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:570491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403762003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717407006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13092008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C46100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64233004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004626 biolink:NamedThing obsolete Hodgkin's paragranuloma tmpte7i6ely_mondo_relaxed.owl Hodgkin paragranuloma out of scope NCIT:C26956|DOID:8642 MONDO:0044778 True https://github.com/monarch-initiative/mondo/issues/3360 owl:Class DOID:8642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018336 biolink:NamedThing obsolete Silver-Russell syndrome due to a point mutation tmpte7i6ely_mondo_relaxed.owl Orphanet:397590|UMLS:CN225933|ICD10:Q87.1 We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome. MONDO:0008394 True https://github.com/monarch-initiative/mondo/issues/1842 owl:Class UMLS:CN225933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C103330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1334614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019894 biolink:NamedThing obsolete non-distal monosomy 7p tmpte7i6ely_mondo_relaxed.owl non-telomeric monosomy 7p|non-distal deletion 7p|non-distal monosomy type 7p Orphanet:96136|ICD10:Q93.5 Obsolete in Orphanet MONDO:0016889 True owl:Class ORPHA:96136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24043009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255021005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70348004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715564000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020619 biolink:NamedThing obsolete blood group, langereis system tmpte7i6ely_mondo_relaxed.owl BLOOD GROUP, LANGEREIS SYSTEM|LAN OMIM:111600 True owl:Class https://omim.org/entry/111600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46785007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6595006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1593000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254174005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019705 biolink:NamedThing obsolete primary bone dysplasia with defective bone mineralization tmpte7i6ely_mondo_relaxed.owl primary osteodysplasia with defective bone mineralization|primary skeletal dysplasia with defective bone mineralization out of scope Orphanet:93447 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class ORPHA:1448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:66630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87065009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017038 biolink:NamedThing obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis tmpte7i6ely_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a systemic vasculitis out of scope Orphanet:264973|UMLS:CN202349 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class ORPHA:264973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:75 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4288544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020268 biolink:NamedThing obsolete ichthyosis associated with ocular features tmpte7i6ely_mondo_relaxed.owl Orphanet:98698 True owl:Class DOID:10887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128598002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717772000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87252009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015966 biolink:NamedThing obsolete hereditary eye tumor tmpte7i6ely_mondo_relaxed.owl genetic eye tumor UMLS:CN200566|Orphanet:183619 True owl:Class DOID:3331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C137957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN371052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128524007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C89334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240372001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763369007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722376008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254767008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718750004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:105706003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017033 biolink:NamedThing obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder tmpte7i6ely_mondo_relaxed.owl primary ILD in childhood and adulthood due to alveolar vascular disorder out of scope UMLS:CN202345|Orphanet:264935 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class ORPHA:264935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716170005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16360009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95776004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/143465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718771009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720515009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:202940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235049008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:265798000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35923002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015081 biolink:NamedThing obsolete neuroendocrine tumor with other location tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:100101|UMLS:CN197376 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. MONDO:0019496 True https://github.com/monarch-initiative/mondo/issues/3886 owl:Class ORPHA:100101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN072436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715391004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3496228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723552005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88151007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717048002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3897034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN544763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70558001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702410002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2576002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018512 biolink:NamedThing obsolete rare epithelial tumor of colon OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare epithelial tumor of colon MONDO:0024479 Orphanet:423991|UMLS:CN237517 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN237517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724178000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34801009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73757007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:30925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/102349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS122470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128473001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016635 biolink:NamedThing obsolete thrombotic disorder due to a platelet anomaly tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN226985|Orphanet:248368 MONDO:0000831 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:C4540498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50715003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1709507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:430725003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0598428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128212001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567008 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016343 biolink:NamedThing obsolete unclassified cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217678 MONDO:0004994 True https://github.com/monarch-initiative/mondo/issues/2824 owl:Class ORPHA:217678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200517 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81308009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0001-9897-3238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3840076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1707446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3536936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567195 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tmpte7i6ely_mondo_relaxed.owl UMLS:C1836860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0344290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/152300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715437003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016228 biolink:NamedThing obsolete rare vascular tumor OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare vascular neoplasm MONDO:0024296 Orphanet:211237 TODO revise after https://github.com/Orphanet/ORDO/issues/2 UMLS:C0282607 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:211237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49362009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34037000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4013949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015652 biolink:NamedThing obsolete chromosomal anomaly with epilepsy as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:166469 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:166469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0879606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C14158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77489003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446022000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717052002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:110979008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0852519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721009008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19076009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:220386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:840539006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002053 biolink:NamedThing obsolete hypoglycemic coma tmpte7i6ely_mondo_relaxed.owl HP:0001325 UMLS:C0020617|HP:0001325|ICD10:E15|SCTID:267384006|DOID:1607|ICD9:251.0 True owl:Class SNOMEDCT:267384006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1201005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236682002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403983000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/172290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48971001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2992000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/313200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:297231002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:495274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201000006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124224004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1384901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1515008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86166000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:0060123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725100001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90739004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92812005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0431119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C80512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79120002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2607932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4287868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2853006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59548005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020278 biolink:NamedThing obsolete metabolic disease associated with ocular features tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN207081|Orphanet:98710 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class ORPHA:98710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4255374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C81767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186217006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232230009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018293 biolink:NamedThing obsolete congenital disorder of glycosylation with skin involvement tmpte7i6ely_mondo_relaxed.owl CDG with skin involvement out of scope Orphanet:371200|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' MONDO:0015286 True owl:Class SNOMEDCT:40159009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/232500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363045008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10045516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715561008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2063886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C6179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0743086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66454007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0011357 biolink:NamedThing obsolete Abnormality of hair density tmpte7i6ely_mondo_relaxed.owl HP:0011362 peter 2012-03-01T02:51:40Z True human_phenotype owl:Class ORPHA:85319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445187004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019856 biolink:NamedThing obsolete primary congenital hypothyroidism without thyroid developmental anomaly OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal. tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:E03.0|Orphanet:95714|ICD10:E03.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary congenital hypothyroidism' MONDO:0016409 True owl:Class https://omim.org/entry/113200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398696001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724278007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231472009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47841006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:229720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448709005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19442009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69614003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C3148763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720598005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231462006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307343001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015971 biolink:NamedThing obsolete rare genetic adrenal disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005495 UMLS:CN200570|Orphanet:183637 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0023481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34730008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14901003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020012 biolink:NamedThing obsolete systemic or rheumatic disease tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class MESH:C566380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#mostly_harmless biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl condition has no severe phenotypes and is harmless or mostly harmless owl:AnnotationProperty ORPHA:238763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764955006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS151660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0544839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1569637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723439002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50076003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699315005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS160565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2827362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3463917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15228007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363463000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402417009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447351004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D031249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766706007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:998008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017655 biolink:NamedThing obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature tmpte7i6ely_mondo_relaxed.owl Orphanet:306762 True https://github.com/monarch-initiative/mondo/projects/6 owl:Class MEDDRA:10068240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS242300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723306004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233728004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022412 biolink:NamedThing obsolete albinism immunodeficiency tmpte7i6ely_mondo_relaxed.owl GARD:0000590 True https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency owl:Class NCIT:C131634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020315 biolink:NamedThing obsolete unclassified myelodysplastic syndrome OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance. tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN207136|Orphanet:98827|ICD10:D46.7 MONDO:0019453 True owl:Class https://omim.org/entry/230600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230293003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015192 biolink:NamedThing obsolete unclassified intestinal pseudoobstruction tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:104078|UMLS:CN197532|ICD10:K59.8 MONDO:0017574 True owl:Class ORPHA:104078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733466005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720953006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:308121000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111897007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:434179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49762007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702339001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205800003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255008003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C155766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:227535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402913004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423997002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:386033004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61261009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1457897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:471268000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254131007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020030 biolink:NamedThing obsolete rare genetic renal disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005240 UMLS:CN206955|Orphanet:98056 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:528663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360481003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716336002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:39 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764627005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN069134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79468000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367489004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31956009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019301 biolink:NamedThing obsolete metabolic disease with skin involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:79387|UMLS:CN205935 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class ORPHA:79387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240849009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234397008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372281005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020232 biolink:NamedThing obsolete musculoskeletal disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN207060|Orphanet:98648 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: musculoskeletal system disease' MONDO:0002081 True owl:Class UMLS:CN207060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3178970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN199983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS109720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000680.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3890733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS248600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128209004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7368005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS113900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237877004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/247200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47673003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186846005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D023961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717012004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699669001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2188058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766052008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205550003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:583861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS122000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:269469005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111567006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020671 biolink:NamedThing obsolete susceptibility to ischemic stroke tmpte7i6ely_mondo_relaxed.owl cerebral infarction|cerebrovascular accident|stroke, ischemic OMIM:601367 Phenotype and not a disease. HP:0002140 True https://github.com/monarch-initiative/mondo/issues/2804 owl:Class MESH:D012608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:737581000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720502000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403768004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C156767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:377788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1707400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015188 biolink:NamedThing obsolete metabolic disorder with intestinal involvement OBSOLETE. A metabolic disease that involves the intestine. tmpte7i6ely_mondo_relaxed.owl intestine metabolic disease|metabolic disease of intestine out of scope Orphanet:104013|UMLS:CN197528 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class DOID:0110313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:441551009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724142005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66931009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31568009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0599464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10040641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0178830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:26823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017660 biolink:NamedThing obsolete rare genetic parkinsonian disorder tmpte7i6ely_mondo_relaxed.owl rare genetic hypokinetic movement disorder MONDO:0021095 Orphanet:307052|UMLS:CN227172 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10071775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57809008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:271832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:300706003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702445005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017644 biolink:NamedThing obsolete rare tremor disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0005395 UMLS:CN227168|Orphanet:306712 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C5666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015913 biolink:NamedThing obsolete rare thrombotic disease of hematologic origin tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:182054|UMLS:CN200513 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42376006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3502417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56692003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:538756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS306400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128116006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0577620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253184003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1059007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725001004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702367005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0080040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118617000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95330001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22255007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92644006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732955001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C165451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MESH:C563460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:485418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230482003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76407009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90858003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28987007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2932666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398554008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443790001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:370469003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000434 biolink:NamedThing obsolete peripheral T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0000430 True owl:Class ORPHA:485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719838008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:450919004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91390005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59981001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017035 biolink:NamedThing obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease tmpte7i6ely_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a systemic disease out of scope UMLS:CN202347|Orphanet:264949 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class https://omim.org/entry/243000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:342553006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6631009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725905005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017001 biolink:NamedThing obsolete X chromosome number anomaly with male phenotype tmpte7i6ely_mondo_relaxed.owl Orphanet:263720 True owl:Class NCIT:C4436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019491 biolink:NamedThing obsolete rare intellectual disability OBSOLETE. Rare intellectual disability. tmpte7i6ely_mondo_relaxed.owl rare intellectual disability MONDO:0001071 UMLS:CN227638|Orphanet:87277 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:87277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2987129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267626000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255033000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707460002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702368000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17709002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765046002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68544003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000673.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55855009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:248111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763277009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS260400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715530004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3541518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720982007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14046000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443492008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/192350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:762282007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254093009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS303350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010582 biolink:NamedThing obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance tmpte7i6ely_mondo_relaxed.owl diabetes insipidus, neurohypophyseal type Orphanet:178029|UMLS:CN074293|Orphanet:30925|OMIM:304900 The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak." True https://github.com/monarch-initiative/mondo/pull/1914 owl:Class UMLS:CN074293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN073359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0026703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764525006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9740002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018520 biolink:NamedThing obsolete rare epithelial tumor of pancreas tmpte7i6ely_mondo_relaxed.owl rare pancreatic epithelial tumor MONDO:outOfScope UMLS:CN237523|Orphanet:424033 Editor note: TODO True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197352008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:274901004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83076007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359557001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:362965005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018232 biolink:NamedThing obsolete primary bone dysplasia with micromelia tmpte7i6ely_mondo_relaxed.owl primary osteodysplasia with micromelia|primary skeletal dysplasia with micromelia out of scope Orphanet:364536 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 True owl:Class https://omim.org/entry/258040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007386 biolink:NamedThing obsolete human coronavirus sensitivity tmpte7i6ely_mondo_relaxed.owl human coronavirus sensitivity|HCVS|Coronavirus 229E susceptibility OMIM:122460 True owl:Class https://omim.org/entry/122460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419097006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399995006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1112474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718631006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:459063003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C29888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C60709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:562538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN034849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111806005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92246000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129452008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109996008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C538352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254897006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58557008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86463003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238867003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363493006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23536000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84114007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718175009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:subtribe biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:519390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016645 biolink:NamedThing obsolete rare neoplastic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0023370 UMLS:CN201870|Orphanet:250908 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:46177005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716318002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0855052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C115200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254466003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419395007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:3204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C127169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123782009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198315005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020279 biolink:NamedThing obsolete metabolic disease with corneal opacity tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN207082|Orphanet:98711 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class UMLS:CN207082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188188009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN321863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0157691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1527231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449627008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194373002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2981140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84777002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70610001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4551987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314998002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:392133001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363385007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8326008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:505216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1414216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0086445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018723 biolink:NamedThing obsolete rare vascular malformation of major vessels tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:458844|UMLS:CN242093 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN242093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254702000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724152009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702355008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019859 biolink:NamedThing obsolete congenital thyroid malformation without hypothyroidism tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:Q89.2|Orphanet:95718 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: thyroid gland disease' MONDO:0003240 True owl:Class ORPHA:100988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722296002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0003-2034-601X biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1258034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34041001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82835005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236535001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D050197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109393007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230422001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719103009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92824003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77547008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43300008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59399004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN651336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C165469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230437002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31798004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:189167009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/104300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59451000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6479008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C581942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194349005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188156001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719666002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:28378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69080001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007960 biolink:NamedThing obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome tmpte7i6ely_mondo_relaxed.owl terms split MONDO:0100354 True https://github.com/monarch-initiative/mondo/issues/3154 owl:Class UMLS:C0027858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10934005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0025190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0016606 biolink:NamedThing obsolete prenatal benign hypophosphatasia OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease. tmpte7i6ely_mondo_relaxed.owl prenatal benign phosphoethanolaminuria|prenatal benign Rathburn disease out of scope Orphanet:247638|UMLS:CN201801|ICD10:E83.3 http://purl.obolibrary.org/obo/MONDO_0600011|http://purl.obolibrary.org/obo/MONDO_0600010|http://purl.obolibrary.org/obo/MONDO_0600009 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class UMLS:CN201801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58750007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2697932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37231002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19721008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020265 biolink:NamedThing obsolete mitochondrial disease with eye involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98695|UMLS:CN207076 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class UMLS:CN207076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126969002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118611004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312974005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718097008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41788008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307502000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254838004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709281006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:331190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4024957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2607948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:412189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78152008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39011001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415176004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:105121000119102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197006009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86044005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719161008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723309006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302856006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715725001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020258 biolink:NamedThing obsolete oculomotor apraxia or related oculomotor disease tmpte7i6ely_mondo_relaxed.owl Orphanet:98688|UMLS:CN207073 HP:0000657 True https://github.com/monarch-initiative/mondo/issues/834 owl:Class ORPHA:98688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700423003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:28 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190279008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95678007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239121009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10074631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:66637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25476006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C51302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D025063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/618404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:281210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721837000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723501008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C135092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722849002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699649006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26249004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015502 biolink:NamedThing obsolete pinnae and external auditory canal anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:156243 True owl:Class ORPHA:19 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254630009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92756002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017753 biolink:NamedThing obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation tmpte7i6ely_mondo_relaxed.owl disorder of peroxisomal alpha-, beta- and omega-oxidation out of scope UMLS:CN227198|GARD:0012476|Orphanet:309810 MONDO:0019233|MONDO:0100277 True https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation|https://github.com/monarch-initiative/mondo/issues/3316 owl:Class MONDO:0017037 biolink:NamedThing obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease tmpte7i6ely_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a metabolic disease out of scope UMLS:CN202348|Orphanet:264968 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class UMLS:CN202348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0598608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:310789003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS259100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS194070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019715 biolink:NamedThing obsolete syndrome with synostosis or other joint formation defect tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:93459|UMLS:CN206620 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class SNOMEDCT:402852007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0005578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C8263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:84096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703254001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722058005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:8649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4329608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763376002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C158520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1865233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80902009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721904001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012140 biolink:NamedThing obsolete pulmonary function tmpte7i6ely_mondo_relaxed.owl pulmonary function|lung function, accelerated rate of decline In, smoking-related|Plf OMIM:608852 True owl:Class https://omim.org/entry/608852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26590002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718688008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0431118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716721003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65710008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403991009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:528647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722436002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238735005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733112007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0477355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65547006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240451000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018618 biolink:NamedThing obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:443090 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class https://omim.org/entry/231530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:164726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699699005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C71059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715802008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81604003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D041882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:530995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1337013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007928 biolink:NamedThing obsolete Fechtner syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007954 NCIT:C131642|UMLS:C0403445 True owl:Class UMLS:C0403445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88776002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016124 biolink:NamedThing obsolete drug and/or toxic myopathy tmpte7i6ely_mondo_relaxed.owl Orphanet:206985 Obsolete in Orphanet MONDO:0016105 True owl:Class ORPHA:206985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015331 biolink:NamedThing obsolete malformation syndrome with skin/mucosae involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:139027|UMLS:CN199361 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' MONDO:0019755 True owl:Class DOID:12526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:72 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35400008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27982003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10026820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015184 biolink:NamedThing obsolete rare disease involving intestinal motility tmpte7i6ely_mondo_relaxed.owl rare genetic intestinal motility disease MONDO:0021189 Orphanet:104009|UMLS:CN226620 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:104009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:303011007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363454002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360525006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020103 biolink:NamedThing obsolete constitutional hemolytic anemia due to acanthocytosis tmpte7i6ely_mondo_relaxed.owl constitutional hemolytic anemia due to acanthocytic disorder out of scope ICD10:E78.6|Orphanet:98366 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' MONDO:0003664 True owl:Class UMLS:C0684249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39925003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016250 biolink:NamedThing obsolete rare adenocarcinoma of the breast OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare breast adenocarcinoma MONDO:0004988 Orphanet:213528|GARD:0012773 UMLS:C0858252|ICD10:C50.5|ICD10:C50.0|ICD10:C50.1|ICD10:C50.8|ICD10:C50.6|ICD10:C50.4|ICD10:C50.3|ICD10:C50.2 True https://rarediseases.info.nih.gov/diseases/12773/rare-adenocarcinoma-of-the-breast|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:213528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721976003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1384588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:95315005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020025 biolink:NamedThing obsolete rare male infertility OBSOLETE. Rare male infertility. tmpte7i6ely_mondo_relaxed.owl rare male infertility MONDO:0005372 Orphanet:98048 UMLS:C0021364 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C168656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:2650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:409966000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1968949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23511006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15689008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03000003 biolink:NamedThing obsolete: brown shrimp tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C4304597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254100000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24559001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN073992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Rice biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN200840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41574007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715474004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711406009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109494000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717763008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238700008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65075004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65875003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359837005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:83553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/617118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:708031000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044980 biolink:NamedThing obsolete disease of signal transduction tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class http://identifiers.org/medgen/60214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722872000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399957001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718721006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449866003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191480000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS177900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0456863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:47 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233703007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68478007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764105002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001807 biolink:NamedThing obsolete familial combined hyperlipidemia OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. tmpte7i6ely_mondo_relaxed.owl hyperbetalipoproteinemia with prebetalipoproteinemia|mixed hyperlipidemia|combined hyperlipidemia|combined hyperlipoproteinemia|familial combined hyperlipidemia (disorder) [ambiguous]|type IIb hyperlipoproteinemia|familial multiple lipoprotein-type hyperlipidemia|mixed hyperlipidaemia|mixed hyperlipoproteinemia OMIM:144250|ICD10:E78.2|SCTID:238040008|ICD9:272.4|Orphanet:79211|MESH:D006950|ICD10:E78.4|DOID:13809|MedDRA:10027763 Obsolete in Orphanet MONDO:0001336 True owl:Class SNOMEDCT:238040008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66521008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2359002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715655000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725904009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:226307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4321247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/247990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0522624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/313480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236713006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:485421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0015758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C567636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:544482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716024001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713401006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10528009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:448242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C77526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:373604002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0431124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:211037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2316319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763770005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128139000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:40 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0747533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/560000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716191002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0333572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715983001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:762295002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715628009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:487809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24269006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711162004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763632004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237614004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34250006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017271 biolink:NamedThing obsolete autosomal ichthyosis syndrome with prominent hair abnormalities tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN202792|Orphanet:281222 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' MONDO:0015947 True owl:Class UMLS:CN202792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:94600009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10026130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74181004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1399354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021170 biolink:NamedThing obsolete amyotonia congenita tmpte7i6ely_mondo_relaxed.owl amyotonia congenita|Oppenheim disease|Oppenheim's disease GARD:0005798 True owl:Class NCIT:C3948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67795000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3889979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715733000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709412006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240063002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018549 biolink:NamedThing obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies tmpte7i6ely_mondo_relaxed.owl late-onset SPMD with hyaline bodies|late-onset scapuloperoneal syndrome, myopathic type out of scope UMLS:CN237548|Orphanet:431263 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: progressive muscular dystrophy' MONDO:0016106 True owl:Class MESH:D004760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5300004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/104130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21454007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186774005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716378008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78275009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197834003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127035006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19138001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS265450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716278005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61003004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018972 biolink:NamedThing obsolete rare epithelial tumor of stomach tmpte7i6ely_mondo_relaxed.owl rare gastric epithelial tumor MONDO:outOfScope UMLS:CN235187|Orphanet:63443 MedDRA:10017758|UMLS:C0024623 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0080000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126798006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:392559009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:413537009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN240645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:39812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254164007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56177003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765190005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703530005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044242 biolink:NamedThing obsolete mydriasis, congenital tmpte7i6ely_mondo_relaxed.owl mydriasis, congenital OMIM:159420 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017370 biolink:NamedThing obsolete autoinflammatory syndrome with skin involvement tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN203043|Orphanet:290842 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' MONDO:0019751 True owl:Class ORPHA:290842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22830006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302231008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238770007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128127008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D021865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56265001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6807001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302161006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722459008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718749004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237657009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3552574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0454651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN653906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77480004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254715009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3715199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716773002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5371001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720010009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763630007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95218005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33313004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254737002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715431002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018401 biolink:NamedThing obsolete female infertility due to an anomaly of ovarian function tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:399853|UMLS:CN227347 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:702357000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN536250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C572568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020078 biolink:NamedThing obsolete acute myeloid leukemia with recurrent genetic anomaly OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl acute myeloid Leukemia with balanced Translocations/Inversions|AML with recurrent genetic anomaly|acute myeloid Leukemia with recurrent Genetic abnormalities|AML with recurrent Genetic abnormalities out of scope Orphanet:98277|OMIM:601626|ONCOTREE:AMLRGA|NCIT:C7175|GARD:0012758 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acute myeloid leukemia' MONDO:0018874 True https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly owl:Class ORPHA:98277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403468003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4996001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016623 biolink:NamedThing obsolete rare deficiency anemia OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare deficiency anemia MONDO:0001639 Orphanet:248293 UMLS:C0041782 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:12680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017662 biolink:NamedThing obsolete miscellaneous movement disorder due to genetic neurodegenerative disease tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN203549|Orphanet:307058 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder' MONDO:0005395 True owl:Class UMLS:C1845202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720859009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3551954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78769001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448315008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4011454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400085009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276533002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10170007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#AMBIGUOUS biolink:NamedThing ambiguous tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:717767009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:268058007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733085004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN221577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237057005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C557819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS257300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016795 biolink:NamedThing obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA tmpte7i6ely_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mitochondrial DNA|OXPHOS disease due to a duplication of mtDNA out of scope Orphanet:254793|UMLS:CN202051 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO:0016387 True owl:Class ORPHA:254793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0524909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716592003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:519930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416707008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39302008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15771004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715340002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715863001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14070001000004105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1261128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23063005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019657 biolink:NamedThing obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes tmpte7i6ely_mondo_relaxed.owl Orphanet:93221|ICD10:N04.0|UMLS:CN206530 Obsolete in Orphanet MONDO:0019006 True owl:Class UMLS:CN206530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719159004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C52593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018296 biolink:NamedThing obsolete congenital disorder of glycosylation with developmental anomaly tmpte7i6ely_mondo_relaxed.owl CDG with developmental anomaly out of scope ICD10:E77.8|Orphanet:371235|GARD:0012782 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' MONDO:0015286 True https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly owl:Class ORPHA:248368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1493002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0586989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:10629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:CN230089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1696109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016631 biolink:NamedThing obsolete hemorrhagic disorder due to an acquired platelet anomaly OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth. tmpte7i6ely_mondo_relaxed.owl rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired platelet anomaly|rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired platelet anomaly MONDO:outOfScope UMLS:CN226981|Orphanet:248347 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404014008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0391826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3548001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186807008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17025000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721836009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1331535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17568006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404036006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276954004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733064004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312898002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN031062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3642471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48723006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238758008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2609059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21995002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92185002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80963002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230413002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254645002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS122100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65846009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015922 biolink:NamedThing obsolete channelopathy with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:182083 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: channelopathy MONDO:0021016 True owl:Class SNOMEDCT:717825008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:436144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724228005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3711370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0409980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0867389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1968848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111835002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29384001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81990004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019748 biolink:NamedThing obsolete rare cause of hypertension tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:93618|UMLS:CN227685 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:93618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722437006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448216007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720408003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2965006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254861002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020271 biolink:NamedThing obsolete phakomatosis with eye involvement tmpte7i6ely_mondo_relaxed.owl Orphanet:98701 True owl:Class MESH:D015439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:441434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45281005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721738002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:458785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68210006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:93 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007189 biolink:NamedThing obsolete B-cell growth factor tmpte7i6ely_mondo_relaxed.owl B-cell growth Factor 1|B-cell growth factor|BCGF out of scope OMIM:109540 True https://github.com/monarch-initiative/mondo/issues/2943 owl:Class https://omim.org/entry/109540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52182008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016404 biolink:NamedThing obsolete metabolic neurotransmission anomaly with epilepsy tmpte7i6ely_mondo_relaxed.owl Orphanet:225707 True owl:Class MEDDRA:10025169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044228 biolink:NamedThing obsolete eegbqtl OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}). tmpte7i6ely_mondo_relaxed.owl EEGBQTL|ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus OMIM:130190 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/130190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719298001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734078009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:429735007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020273 biolink:NamedThing obsolete disease with potential neoplastic degeneration associated with ocular features tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98703|UMLS:CN207078 Reason: out of scope. This is obsolete in Orphanet and out of scope for Mondo. Term to consider: eye neoplasm' MONDO:0021220 True owl:Class UMLS:CN207078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018120 biolink:NamedThing obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:352312|UMLS:CN227267 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' MONDO:0002525 True owl:Class UMLS:CN227267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1710103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68266006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70694009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194995005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52994003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723823004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61860000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3838691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:275336002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN035788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715341003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1737210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1735886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126598008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38961000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015615 biolink:NamedThing obsolete rare genetic gastroenterological disease tmpte7i6ely_mondo_relaxed.owl rare genetic gastrointestinal system disease MONDO:0004335 UMLS:CN199991|Orphanet:165652 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236655005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/171660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:303063000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3987009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702349003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50927007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233858000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18121009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44553005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:297233004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS178600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2231001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020224 biolink:NamedThing obsolete rare cataract OBSOLETE. Rare cataract. tmpte7i6ely_mondo_relaxed.owl rare cataract (disease)|rare cataract MONDO:0005129 Orphanet:98640 UMLS:C0086543 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019039 biolink:NamedThing obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect tmpte7i6ely_mondo_relaxed.owl rare bleeding disorder due to a constitutional coagulation factors defect|rare coagulopathy due to a constitutional coagulation factors defect MONDO:outOfScope UMLS:CN227563|Orphanet:68334 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/300804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000834 biolink:NamedThing obsolete bone deterioration disease OBSOLETE. A bone structure disease that results in change or damage of structure located in bone. tmpte7i6ely_mondo_relaxed.owl DOID:0080007 This term is out of scope for Mondo. True https://github.com/monarch-initiative/mondo/issues/503 owl:Class https://omim.org/entry/614162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019275 biolink:NamedThing obsolete other genetic epidermal disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205922|Orphanet:79360 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:239945009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:71267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765196004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1960543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020031 biolink:NamedThing obsolete rare tumor OBSOLETE. Rare disease of cellular proliferation. tmpte7i6ely_mondo_relaxed.owl rare neoplasm|rare disease of cellular proliferation|rare neoplasm (disease) MONDO:0005070 Orphanet:98057 UMLS:C0375111 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1512743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:96 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717045004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1706829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763218005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38023001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28557005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763837007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699267007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4854004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:110981005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C562391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17231009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57100005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233985008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44231009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725031005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10033687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:583856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012294 biolink:NamedThing obsolete drug metabolism, poor, Cyp2C19-related tmpte7i6ely_mondo_relaxed.owl Proguanil, poor metabolism of|clopidogrel, poor metabolism of|Mephenytoin, poor metabolism of|Omeprazole, poor metabolism of|Opremazole, poor metabolism of|drug metabolism, poor, Cyp2C19-related UMLS:C1836023|OMIM:609535|GARD:0012906 True owl:Class UMLS:C1836023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53599007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51771007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764996009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95462004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719450007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51118003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58258004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707594002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4545992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110781 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl ORPHA:3019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182231 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl UMLS:C3280226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4040907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3642346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267660007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92308005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016791 biolink:NamedThing obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies tmpte7i6ely_mondo_relaxed.owl OXPHOS disease due to mtDNA anomalies|mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies out of scope Orphanet:254758|UMLS:CN202048 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO:0016387 True owl:Class ORPHA:314613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14527007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36656008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403832004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768846004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240161003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58170007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763803004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75474006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109558001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4760008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64859006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91992005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018409 biolink:NamedThing obsolete rare genetic disorder with obstructive azoospermia tmpte7i6ely_mondo_relaxed.owl rare genetic disorder due to impaired sperm transport MONDO:outOfScope UMLS:CN227352|Orphanet:400003 Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:400003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1504431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1719788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76916001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1704430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://robot.obolibrary.org/filter biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4522164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402824003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60573004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724385009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82732003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397825006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197268000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018444 biolink:NamedThing obsolete female infertility due to fertilization defect tmpte7i6ely_mondo_relaxed.owl female infertility due to fecundation defect|rare female infertility due to oocyte maturation|rare female infertility due to oocyte maturation defect out of scope ICD10:N97.8|Orphanet:404469 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' MONDO:0021124 True owl:Class ORPHA:404469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723449004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015147 biolink:NamedThing obsolete other syndrome with lissencephaly as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:102010|UMLS:CN197489 Editor note: consider merging ICD10:Q04.3 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN197489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707443007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720570007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C102820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53406005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232058008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2985174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:596937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253018005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020259 biolink:NamedThing obsolete myopathy with eye involvement tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: myopathy MONDO:0005336 True owl:Class ORPHA:98689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21381006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70405009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126485001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN016627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723301009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763624007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017390 biolink:NamedThing obsolete methylmalonic acidemia without homocystinuria OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. tmpte7i6ely_mondo_relaxed.owl methylmalonic aciduria without homocystinuria|methylmalonic acidemia without homocystinuria out of scope Orphanet:293355|ICD10:E71.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: methylmalonic acidemia' MONDO:0002012 True owl:Class ORPHA:293355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57607007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:103919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:426373005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/119580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721076000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5725006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1947949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:119523007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721086004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:225123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:430079001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734024009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018407 biolink:NamedThing obsolete male infertility due to obstructive azoospermia of genetic origin tmpte7i6ely_mondo_relaxed.owl Male infertility due to impaired sperm transport of genetic origin out of scope ICD10:N46|Orphanet:399998 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class SNOMEDCT:254669003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/237100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15629006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235796008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312216007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443493003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62151007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016341 biolink:NamedThing obsolete lysosomal disease with restrictive cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:217638|UMLS:CN201171 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' MONDO:0002561 True owl:Class ORPHA:217638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73692007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/881357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371979001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1721005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239085000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699301008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3160738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3640823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363411007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230425004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66999008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017978 biolink:NamedThing obsolete syndrome with disorder of sex development of gynecological interest tmpte7i6ely_mondo_relaxed.owl syndrome with DSD of gynecological interest Orphanet:325638|UMLS:CN204125 These terms are not used clinically. MONDO:0002145|MONDO:0001967 True owl:Class UMLS:CN204125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23687008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:425671009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397513003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:279611005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404143002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/142340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404162004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734434007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:229247004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS269500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0243002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238757003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111898002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65172003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765057007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1282975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1264008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718212006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3149707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398925009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719408007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711151004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720987001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193683001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:481662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020013 biolink:NamedThing obsolete rare odontologic disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206946|Orphanet:98026 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363515000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703388005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS309530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:708518001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/237550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237895001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C136486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62914000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:298644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61738006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021668 biolink:NamedThing obsolete disorder involving pain tmpte7i6ely_mondo_relaxed.owl pain disorder out of scope MONDO:0700057 DOID:0060164|UMLS:C1300028|MESH:D010146|SCTID:373673007 True https://github.com/monarch-initiative/mondo/issues/3163 owl:Class UMLS:C1300028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016401 biolink:NamedThing obsolete energy metabolism disorder with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:225696|UMLS:CN226915 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of energy metabolism' MONDO:0019243 True owl:Class DOID:6170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128105004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1707436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN042654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403980002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277905003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000685.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:386762009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78975002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000746 biolink:NamedThing obsolete inguinal hernia OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. tmpte7i6ely_mondo_relaxed.owl DOID:0060320|ICD10:K40.90|ICD9:550|NCIT:C34690|MESH:D006552|ICD10:K40|HP:0000023|SCTID:396232000|ICD9:550.90 Represents finding. HP:0000023 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class SNOMEDCT:396232000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711409002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016997 biolink:NamedThing obsolete hereditary epidermolysis bullosa associated with ocular features tmpte7i6ely_mondo_relaxed.owl Orphanet:263676 Obsolete in Orphanet MONDO:0019276 True owl:Class ORPHA:263676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C70938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540014 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10087007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721100009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4289585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44115007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733093004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609577006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:356961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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https://omim.org/entry/613436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725911008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205130008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59393003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723582004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41720003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3273116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4284414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:110000005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:697910001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717221005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188147009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36742000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2363903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726031001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267854005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2739810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26399002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1279412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302829009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74025007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88415009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50299009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN034858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:50 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS162400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:155867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13200003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015181 biolink:NamedThing obsolete congenital intestinal disease due to an enzymatic defect tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:104006 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: intestinal disease' MONDO:0005020 True owl:Class ORPHA:104006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9434008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720418008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65194006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718769009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0272302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699297004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017028 biolink:NamedThing obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease tmpte7i6ely_mondo_relaxed.owl secondary ILD specific to adulthood associated with a systemic disease out of scope UMLS:CN202340|Orphanet:264745 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' MONDO:0015925 True owl:Class UMLS:CN202340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4329780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733118006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45283008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/217085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81996005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0475269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:451612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231719009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724225008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82178003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764104003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764999002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:105713003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4023011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397868007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3463916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN238808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:CN202278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008331 biolink:NamedThing obsolete pseudopapilledema OBSOLETE. Apparent optic disc swelling in the absence of increased intracranial pressure. tmpte7i6ely_mondo_relaxed.owl crowded optic disc|pseudopapilledema|obsolete pseudopapilledema (disease) obsolete pseudopapilledema (disease) MESH:C562401|SCTID:57138009|ICD9:377.24|OMIM:177800|Orphanet:519339|DOID:1392|UMLS:C0155300 This is a phenotypic feature and belongs in HPO. HP:0000538 True https://github.com/monarch-initiative/mondo/issues/381 owl:Class ORPHA:519339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92784007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77690003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31248004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721095007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49882001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398909004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS158900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:406476007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75702008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44600005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7231009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23560001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254638002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:281702006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:422853008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62660000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C158036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0027873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/247650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48130008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59032001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2202743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4050314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44743006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015117 biolink:NamedThing obsolete rare hepatic and biliary tract tumor OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare hepatobiliary neoplasm MONDO:0002514 UMLS:CN197474|Orphanet:101943 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1319315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:417081007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47639008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77628002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:530983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C48305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020136 biolink:NamedThing obsolete neurodegenerative disease with dementia tmpte7i6ely_mondo_relaxed.owl UMLS:CN207020|Orphanet:98534 MONDO:0005559 True https://github.com/monarch-initiative/mondo/issues/1498 owl:Class UMLS:C0585129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017841 biolink:NamedThing obsolete autoimmune disease with skin involvement OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body. tmpte7i6ely_mondo_relaxed.owl skin of body hypersensitivity reaction type II disease|integument hypersensitivity reaction type II disease|autoimmune disease of skin and connective tissue out of scope UMLS:CN203818|DOID:0060039|Orphanet:315350 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease' MONDO:0007179 True owl:Class ORPHA:315350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS235400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0259749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:82 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372244006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1167650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN317536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:268240006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721219005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:335002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126907002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302874002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126879004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C150369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87694001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0028741 biolink:NamedThing obsolete overgrowth or tall stature syndrome with skeletal involvement tmpte7i6ely_mondo_relaxed.owl Orphanet:498448 True owl:Class ORPHA:498448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10046851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718183003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3147083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237983002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018651 biolink:NamedThing obsolete lipoyl transferase 2 deficiency tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:447795 This is a biological anomaly and not a disease. True owl:Class MESH:D014458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1136339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254434008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS177200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717011006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408649007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0740277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2700593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92286008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4072980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1303073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724090001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447058001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0000889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68618008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229012 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tmpte7i6ely_mondo_relaxed.owl MESH:C563020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72535009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764621006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1142432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C155954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277605001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS119580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2700405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360455002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404164003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724144006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30102006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703542000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230333002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191384005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31712002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95670000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:119422004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703508009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0043234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0036285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:125586008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0348996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15945005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/232220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3891714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0520716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717736007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238861002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254044004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61665008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93163002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56882008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003571 biolink:NamedThing obsolete labyrinthine dysfunction tmpte7i6ely_mondo_relaxed.owl ICD10:H83.2X|ICD9:386.50|DOID:566|ICD9:386.58|ICD10:H83.2X9|ICD9:386.5|UMLS:C0155514|ICD10:H83.2|SCTID:5239005 This is considered a phenotype, hence it was obsoleted. HP:0000359|MONDO:0002467 True https://github.com/monarch-initiative/mondo/issues/389 owl:Class SNOMEDCT:5239005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS126200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22451001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/609649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3073006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C134954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D024801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702617007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0497550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:426055002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0259771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50490005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763209008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60412004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:405769009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:37748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN232144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408647009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719660008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397803000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719140001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:487814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404053004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:66629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126769007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4539873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88887003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45369008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92446002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:430042004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419728003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80660001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723551003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:248293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42338000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718633009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37054000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418470004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203994003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0302319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17890003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92126004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/140600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005196 biolink:NamedThing obsolete teratozoospermia OBSOLETE. Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends tmpte7i6ely_mondo_relaxed.owl EFO:0002625|MP:0005578|SCTID:236817003|UMLS:C0403824 This is a finding. HP:0012864 True https://github.com/monarch-initiative/mondo/issues/1786 owl:Class UMLS:C0403824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31788005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124257002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS151623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3538999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127071007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363668000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN230273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192689006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65049003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1568248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715240000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:200920000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018390 biolink:NamedThing obsolete male infertility due to sperm disorder tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227338|ICD10:N46|Orphanet:399771 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class MONDO:0025518 biolink:NamedThing obsolete aspirin allergy OBSOLETE. A allergic disease involving a acetylsalicylic acid. tmpte7i6ely_mondo_relaxed.owl acetylsalicylic acid allergy|ASA allergy|allergy of acetylsalicylic acid|acetylsalicylic acid allergic disease MONDO:outOfScope SCTID:293586001|DOID:0040002 IEDB:RV|UMLS:C0004058|ICD9:995.27 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0040002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719432000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81519008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014849 biolink:NamedThing obsolete autosomal recessive nonsyndromic deafness 105 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0012091 OMIM:616958 True https://github.com/monarch-initiative/mondo/issues/3098 owl:Class https://omim.org/entry/616958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720830009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3501843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020243 biolink:NamedThing obsolete colobomatous and areolar dystrophy tmpte7i6ely_mondo_relaxed.owl Orphanet:98665 True owl:Class ORPHA:98665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238872007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:436242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92772005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95802009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#other_hierarchy biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl A bin for classes that are likely not diseases and may be moved to a separate hierarchy owl:AnnotationProperty DOID:3864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726607007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763131005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238078005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:589515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720575002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195199008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201192006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57514000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722456001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190794006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3662487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765170001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS143890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446474007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18620009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0409974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410039003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/618496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56038003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445513004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725166005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718220008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3892039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193589009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30911005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9893005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724176001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C166373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0334540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS149400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230572002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS164280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3502469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:CN227735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721756002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000501 biolink:NamedThing obsolete Jensen syndrome tmpte7i6ely_mondo_relaxed.owl Opticoacustic nerve atrophy with dementia|Jensen syndrome|deafness-opticoacoustic nerve atrophy-dementia syndrome|syndrome of opticoacoustic nerve atrophy with dementia|nerve deafness optic nerve atrophy, and dementia|opticoacoustic nerve atrophy with dementia MONDO:0010578 MESH:C537568|GARD:0003046|UMLS:C1839564|DOID:0050867 True https://rarediseases.info.nih.gov/diseases/3046/jensen-syndrome owl:Class MESH:C537568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS182250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016400 biolink:NamedThing obsolete metal transport or utilization disorder with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN226914|Orphanet:225692 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class NCIT:C35668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723096000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721220004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719658006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190981001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:405822008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713498009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl HP:0040290 biolink:NamedThing obsolete Abnormality of skeletal muscles tmpte7i6ely_mondo_relaxed.owl True human_phenotype owl:Class DOID:962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88714009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230466004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190634004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237692001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400142003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020217 biolink:NamedThing obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly tmpte7i6ely_mondo_relaxed.owl glaucoma associated with neural crest cell migration anomaly out of scope Orphanet:98632 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: secondary dysgenetic glaucoma' MONDO:0020216 True owl:Class DOID:0090042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59761008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92568009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70476006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:7 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17602002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3276228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1153706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254923001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019047 biolink:NamedThing obsolete rare deafness OBSOLETE. Any of the forms of hearing loss that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare hearing loss|complete deafness|total deafness MONDO:0005365 UMLS:CN227564|NCIT:C36194|Orphanet:68361 UMLS:C3711374|UMLS:C0581883 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445105005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724066002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:422426003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230594005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019099 biolink:NamedThing obsolete rare soft tissue tumor OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare mesenchymal tumor|rare soft tissue neoplasm MONDO:0006424 Orphanet:71209 UMLS:C0037579 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:71209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/176780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715664005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29491004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/141749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:35301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCBITaxon:988644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718196002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254989000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5505005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2242711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:425940002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018200 biolink:NamedThing obsolete acute encephalopathy with inflammation-mediated status epilepticus tmpte7i6ely_mondo_relaxed.owl Orphanet:363567 True owl:Class ORPHA:363567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238824006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111503008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:183342005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:456298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/489000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232039004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019291 biolink:NamedThing obsolete rare genetic dermis disorder tmpte7i6ely_mondo_relaxed.owl dermis disorder MONDO:0021154 UMLS:CN227615|Orphanet:79377 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:79377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C112314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000664.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74928006 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl NCIT:C92950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19362000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015162 biolink:NamedThing obsolete rare syndromic intellectual disability OBSOLETE. 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62588002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700112007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:200418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS127500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414673004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404080006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015869 biolink:NamedThing obsolete rare benign breast tumor OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare breast benign neoplasm MONDO:0000620 Orphanet:180253 UMLS:C0346156 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719201004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:409941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015318 biolink:NamedThing obsolete Pierre Robin syndrome associated with collagen disease tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class https://github.com/monarch-initiative/mondo/issues/324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45007003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237923004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS201000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79291003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0259782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10041932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763132003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017119 biolink:NamedThing obsolete syndrome with microcephaly as major feature tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN202469|Orphanet:269528 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class SNOMEDCT:51178009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763403007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81598001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:555407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26037005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363505006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52868006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018391 biolink:NamedThing obsolete male infertility with spermatogenesis disorder tmpte7i6ely_mondo_relaxed.owl out of scope GARD:0012512|Orphanet:399775|UMLS:CN227339|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class SNOMEDCT:716189005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715574002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C150251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363473003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30588004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34736002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715674008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764456001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387742006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN679647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/598500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS228520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/217600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/142730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015878 biolink:NamedThing obsolete rare disease with autism tmpte7i6ely_mondo_relaxed.owl Orphanet:180772|UMLS:CN200486 This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead. True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1766 owl:Class ORPHA:180772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92788005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/233758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:1904169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:436159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237547004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111306001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018377 biolink:NamedThing obsolete rare hereditary disease with avascular necrosis tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205038|Orphanet:399185 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:10075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444911000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22818000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53808001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018545 biolink:NamedThing obsolete primary immunodeficiency with predisposition to severe viral infection tmpte7i6ely_mondo_relaxed.owl Orphanet:431156 True owl:Class MONDO:0020231 biolink:NamedThing obsolete cardiac disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98647|UMLS:CN207059 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: heart disease' MONDO:0005267 True owl:Class DOID:13825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763665007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51500006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254677004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:426336007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278833002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725906006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715989002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017272 biolink:NamedThing obsolete autosomal ichthyosis syndrome with prominent neurologics signs tmpte7i6ely_mondo_relaxed.owl autosomal ichthyosis syndrome with prominent neurologic signs out of scope Orphanet:281238|UMLS:CN202793 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' MONDO:0015947 True owl:Class UMLS:C3553999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60555002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:394532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722055008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448674007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35031005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53926002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404071006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/540000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716996008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71779008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733046006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36948007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254250002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/143880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48241004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254090007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001012 biolink:NamedThing obsolete breast fibroadenosis tmpte7i6ely_mondo_relaxed.owl fibroadenosis - breast|fibroadenosis of breast DOID:10352|ICD9:610.2|SCTID:23260002|UMLS:C1305875|ICD10:N60.2 Obsoleting because this is a phenotype. HP:0010619 True https://github.com/monarch-initiative/mondo/issues/429 owl:Class SNOMEDCT:23260002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS203650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:580940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:243377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49526009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D050805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C13271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314407005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:597201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2033037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80813006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702393003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399183005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010601 biolink:NamedThing obsolete gynecomastia, familial OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl hereditary gynecomastia|gynecomastia, familial OMIM:306500|UMLS:C1844375|MESH:C564416 Obsoleted in OMIM MONDO:0010720|MONDO:0007690 True https://github.com/monarch-initiative/mondo/issues/1695 owl:Class UMLS:C1844375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019110 biolink:NamedThing obsolete rare central nervous system or retinal vascular disease tmpte7i6ely_mondo_relaxed.owl MONDO:0020676 UMLS:CN205621|Orphanet:71281 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197416005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN118820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718179003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190786004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49420001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188744006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0014667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126639006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/171100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0685053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716724006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:174590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0036491 biolink:NamedThing obsolete rare childhood malignant neoplasm OBSOLETE. An infrequent malignant neoplasm that occurs during childhood. tmpte7i6ely_mondo_relaxed.owl Rare malignant neoplasm|rare malignant childhood neoplasm|rare childhood cancer|rare childhood malignant neoplasm MONDO:0006517 NCIT:C114451|UMLS:C3828369 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3828369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:298382003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56663002 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235875008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://orcid.org/0000-0002-2825-0621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0476147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3278147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS124000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713315007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109041000119107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74162007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721014007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:274085008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86094006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718575002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609575003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0178879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92439006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44518003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276891009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN716584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725289009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124239003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:155896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13045009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:297257004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404140004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715529009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044979 biolink:NamedThing obsolete disease by cell type tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class ORPHA:1830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52368004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:125603006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C175584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55004003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS262400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2980104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766870005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30967002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254251003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719649004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015936 biolink:NamedThing obsolete rare tumor of endocrine glands OBSOLETE. A rare tumor that involves the endocrine gland. tmpte7i6ely_mondo_relaxed.owl tumor of endocrine glands|endocrine gland rare tumor MONDO:0002082 Orphanet:182130 UMLS:C0014132|MedDRA:10061121 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0070074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4740000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111441 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl ORPHA:100996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400190005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408751001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D050336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253001006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0864950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718576001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1720416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015662 biolink:NamedThing obsolete hemorrhagic disorder due to an acquired coagulation factor defect tmpte7i6ely_mondo_relaxed.owl rare bleeding disorder due to an acquired coagulation factor defect|rare coagulopathy due to an acquired coagulation factor defect MONDO:outOfScope Orphanet:166775|UMLS:CN226721 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C3856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/119300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001253 biolink:NamedThing obsolete solar retinopathy tmpte7i6ely_mondo_relaxed.owl solar retinitis DOID:11282|ICD9:363.31|ICD10:H31.02|SCTID:1135000|UMLS:C0152131 True owl:Class DOID:11282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:512017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/101800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10175 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl MESH:C537610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238639005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36222008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS616866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766755003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719380003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15459006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS125310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022732 biolink:NamedThing obsolete chorea minor tmpte7i6ely_mondo_relaxed.owl GARD:0006057 obsoleted in source True https://rarediseases.info.nih.gov/diseases/6057/chorea-minor|https://github.com/monarch-initiative/mondo/issues/2749 owl:Class UMLS:C0855163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0269107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020033 biolink:NamedThing obsolete rare digestive tumor OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare digestive system neoplasm|rare digestive neoplasm|rare digestive cancer MONDO:0021223 UMLS:CN206958|Orphanet:98059 UMLS:C0012243|UMLS:C0017185|UMLS:C0685938 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0559458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0078911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61233003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239802003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020260 biolink:NamedThing obsolete myasthenic syndrome with eye involvement tmpte7i6ely_mondo_relaxed.owl UMLS:CN207074|Orphanet:98690 See https://github.com/Orphanet/ORDO/issues/17 True owl:Class ORPHA:98690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:268274005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4076194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1707291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS156200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254240003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26597004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS126800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87040007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58868000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0879257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253737007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715344006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:362973001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702449004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88469006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1092381000119100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60676002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15545001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718611007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044231 biolink:NamedThing obsolete eyebrow, whorl 1n tmpte7i6ely_mondo_relaxed.owl eyebrow, whorl in OMIM:133800 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/133800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88975006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235916001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126835002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:508512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0277356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN119529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4085595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702829000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126965008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67254002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55995005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS243300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C86917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92151003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015655 biolink:NamedThing obsolete cerebral malformation with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:166478 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebral malformation' MONDO:0016054 True owl:Class SNOMEDCT:67189007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719069008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763739002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763775000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4509879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373639002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4598005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:42 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:409711008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:5149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717335009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0585474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020027 biolink:NamedThing obsolete rare allergic disease OBSOLETE. Rare allergic hypersensitivity disease. tmpte7i6ely_mondo_relaxed.owl rare allergic disease|rare allergic hypersensitivity disease|rare allergy MONDO:0005271 Orphanet:98050|UMLS:CN206951 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33595009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0029001 biolink:NamedThing obsolete chemically-induced disorder OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. tmpte7i6ely_mondo_relaxed.owl disorders, chemically-induced|chemically-induced disorder|disorder, chemically-induced|chemically induced disorders out of scope MESH:D064419 MONDO:0029000 True https://github.com/monarch-initiative/mondo/issues/3414 owl:Class MESH:D064419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126885006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424952003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020111 biolink:NamedThing obsolete constitutional megaloblastic anemia due to folate metabolism disorder tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN227786|ICD10:D52.8|Orphanet:98408 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 True owl:Class ORPHA:98408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715421009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93159009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88092000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:255138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387800004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73415002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS133100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:105600002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403992002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3502055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418632009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67049004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15285008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017631 biolink:NamedThing obsolete rare tumor of gallbladder and extrahepatic biliary tract tmpte7i6ely_mondo_relaxed.owl rare tumor of gallbladder and EBT MONDO:outOfScope UMLS:C0750952|Orphanet:306633 Editor note: TODO True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0750952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15739006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018033 biolink:NamedThing obsolete other immunodeficiency syndromes due to defects in innate immunity tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:331193|UMLS:CN204276 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN204276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN072151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403194002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230407006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443892003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44018007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:D015674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10035109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230493001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1720779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:538096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46252003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:244310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204108000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/217090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18978002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732249002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:250989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1709240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14785004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3715155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18941000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446079007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/104510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4053736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1384494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92408009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448148000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS184840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204508009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699318007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402397006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1423873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000112 biolink:NamedThing example of usage A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold. tmpte7i6ely_mondo_relaxed.owl GROUP:OBI: example of usage PERSON:Daniel Schober owl:AnnotationProperty NCIT:C6900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109620006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766720000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016402 biolink:NamedThing obsolete mitochondrial disease with epilepsy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:225700|UMLS:CN201331 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class ORPHA:225700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38822007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237687003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:426692001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:482092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254959007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39390005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95323007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197441003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118926004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118612006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018284 biolink:NamedThing obsolete congenital disorder of glycosylation with neurological involvement tmpte7i6ely_mondo_relaxed.owl CDG with neurological involvement out of scope ICD10:E77.8|Orphanet:371047 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' MONDO:0015286 True owl:Class ORPHA:300878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1876187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764858009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66392007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/patterns/disease_by_dysfunctional_structure.yaml biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007801 biolink:NamedThing obsolete hypoplasia of teeth roots tmpte7i6ely_mondo_relaxed.owl hypoplasia of teeth roots MESH:C564144|Orphanet:99789|OMIM:146400 MONDO:0007436 True owl:Class https://omim.org/entry/146400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69763009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS179850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0086648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016050 biolink:NamedThing obsolete thiamine-responsive encephalopathy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011841 True https://github.com/monarch-initiative/mondo/issues/4205 owl:Class UMLS:CN227229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47384003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1710177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763366000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D060585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0100027 biolink:NamedThing obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0018214 True owl:Class https://github.com/monarch-initiative/mondo/issues/3442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719249005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:422588002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2609268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3549447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10045224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367498001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D062026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10031130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415295002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/313850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1370500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0000744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126836001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188361007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0520783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C50481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007140 biolink:NamedThing obsolete antiphospholipid syndrome tmpte7i6ely_mondo_relaxed.owl term split MONDO:8000010 True owl:Class https://github.com/monarch-initiative/mondo/issues/3634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126499002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711160007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717940006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019061 biolink:NamedThing obsolete rare parathyroid disease and phosphocalcic metabolism anomaly tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:68415|UMLS:CN205542 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C2942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61582004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254103003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194119004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717944002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4082198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85995004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126884005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1720189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0950112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400952003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4509831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3541462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703504006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/241540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN030661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015329 biolink:NamedThing obsolete malformation syndrome with short stature tmpte7i6ely_mondo_relaxed.owl congenital malformation syndrome associated with short stature|congenital malformation syndrome and short stature|malformation syndrome associated with short stature out of scope SCTID:205808005|UMLS:CN199359|Orphanet:139021 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' MONDO:0019755 True owl:Class UMLS:CN199359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404029005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47535005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64969001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67871000119105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0744273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C571912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/104570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27544004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404068003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722066001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015983 biolink:NamedThing obsolete rare genetic syndromic intellectual disability OBSOLETE. Rare genetic syndromic intellectual disability. tmpte7i6ely_mondo_relaxed.owl rare genetic syndromic intellectual disability MONDO:0000508 Orphanet:183763|UMLS:CN226822 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3151440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254886006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018413 biolink:NamedThing obsolete female infertility due to an anomaly of ovarian function of genetic origin tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:400022|UMLS:CN227356 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C123172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43647007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2918000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS131760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237921002 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:243321006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80698001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92486005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:30 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27298 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:200994002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231828003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699802009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3538951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2102007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1527225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:421529006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C154316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C80307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363445000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715565004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3711645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0394005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127039000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91952008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0027751 biolink:NamedThing obsolete serpinopathy with loss of serpin function tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:250811 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy MONDO:0027749 True owl:Class ORPHA:250811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40354009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0685115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN037259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4040879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719165004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0344432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3218000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763110007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS233300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:499085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230193008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:121951000119101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191347008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398148000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18805001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410429000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23191004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403976007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700242002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55912009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28651003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020229 biolink:NamedThing obsolete cerebral disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98645|UMLS:CN207057 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: nervous system disorder' MONDO:0005071 True owl:Class ORPHA:98645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D061387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205821003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21186006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255107005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722389002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN552491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/205000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN787270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017674 biolink:NamedThing obsolete disease with focal palmoplantar keratoderma as a major feature OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature.. tmpte7i6ely_mondo_relaxed.owl disease with focal palmoplantar hyperkeratosis as a major feature MONDO:outOfScope Orphanet:307871|UMLS:CN203558 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:307871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS309801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/119650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312921000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9707006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:301990003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719171005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237603002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715901002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:39044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87764000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720499004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71111008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240761008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266556005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18546004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67202007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN072428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404073009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0086652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703541007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85670002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:436169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020017 biolink:NamedThing obsolete rare otorhinolaryngologic disease OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare head and neck disease|rare otorhinolaryngologic disease MONDO:0024623 Orphanet:98036|UMLS:CN206950 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448864006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715723008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D049913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34476008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044239 biolink:NamedThing obsolete median-ulnar nerve communications tmpte7i6ely_mondo_relaxed.owl median-ulnar nerve communications|Martin-Gruber Median-ulnar anastomosis OMIM:155150 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/155150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201091002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69015003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254050009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127057004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238061001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240773008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52636001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66207005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9527009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38907003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0431111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN030358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1562113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27382006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84048006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C557826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D063371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717263009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27173008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721227001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722381004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011140 biolink:NamedThing obsolete benign familial neonatal-infantile seizures tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011904 True https://github.com/monarch-initiative/mondo/issues/4073 owl:Class MESH:C567233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191156009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3164279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266162007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363485006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4530000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34225008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238924007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS188580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717333002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10567003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D063748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80375002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020151 biolink:NamedThing obsolete rare palpebral disease OBSOLETE. Any of the forms of eyelid disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare eyelid disease MONDO:0003382 Orphanet:98560 UMLS:C0015423 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1510795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25374005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20815007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C25416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:429442006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45913009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0400821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044636 biolink:NamedThing obsolete rare hyperkinetic movement disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:494457 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:494457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109420003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763130006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:281562007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1841639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230438007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0949116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715472000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47054003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44169009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67155006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64043005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71590000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN240755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:200973000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711403001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020000 biolink:NamedThing obsolete rare respiratory disease OBSOLETE. Rare respiratory system disease. tmpte7i6ely_mondo_relaxed.owl rare respiratory system disease MONDO:0005087 UMLS:CN206934|Orphanet:97955 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53602002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716772007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/313000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN068444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726363000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20018005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0344976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44452003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768663003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30281009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:0080628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203392007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0476144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276803003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044222 biolink:NamedThing obsolete blood group, p1pk system tmpte7i6ely_mondo_relaxed.owl P(2) phenotype|blood group, P1PK system|Nor Polyagglutination syndrome|P1(K) phenotype|P(1) phenotype|P2(K) phenotype|P phenotype OMIM:111400 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C102872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722454003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718605009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57838006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56364004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254711000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372101000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN073989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30575002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN671932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764958008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN231743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/101000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404079008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76047005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93235007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/140450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186867005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715645004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015549 biolink:NamedThing obsolete rare genetic hematologic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005570 Orphanet:158300|UMLS:CN199710 Reason for obsoletion: we want to remove rare X terms from Mondo. True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1748 owl:Class UMLS:CN199710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95830009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253269002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:226313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0399497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16059006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C1535926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254634000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238575004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000023.11 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713577007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44666001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703309000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95568003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404064001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:165704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48008009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719471002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0098805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:3322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719017003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444755001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702345009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363367000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723442008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006168 biolink:NamedThing obsolete common hematopoietic neoplasm tmpte7i6ely_mondo_relaxed.owl NCIT:C7588|EFO:1000201 Obsoleted in NCIt True https://github.com/monarch-initiative/mondo/issues/2104 owl:Class NCIT:C7588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3710589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79855003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766761000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1449563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017150 biolink:NamedThing obsolete pulmonary arterial hypertension associated with another disease OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. tmpte7i6ely_mondo_relaxed.owl PAH associated with another disease|secondary PAH out of scope ICD10:I27.2|Orphanet:275791|UMLS:CN202577|EFO:0009193 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class DOID:0060683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32117000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73843004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56717001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13555004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4012409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763345008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703614006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763407008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2718067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN353477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:508533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111359004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1968893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN795020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22841008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717790004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253899000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/231044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:146801000119103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3697673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56165008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C80076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2932679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254962005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20927009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C164224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:439127006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95198001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763128009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8912009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN073991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763713000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14304000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254874008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717945001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254778000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015955 biolink:NamedThing obsolete rare genetic epilepsy OBSOLETE. A form of epilepsy that is both rare and inborn. tmpte7i6ely_mondo_relaxed.owl rare genetic epilepsy MONDO:0005027 Orphanet:183512|UMLS:CN226802 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363482009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766819001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236432001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021198 biolink:NamedThing obsolete rare genetic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 UMLS:CN206953|Orphanet:98053 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240131006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/141405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733082001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237793004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1527427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3251797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0578661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021037 biolink:NamedThing obsolete genetic neurodegenerative disease with dementia OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl genetic neurodegenerative disease with dementia UMLS:CN202589|Orphanet:276058 Dementia should be a feature, not a superclass. MONDO:0024237 True https://github.com/monarch-initiative/mondo/issues/1954 owl:Class ORPHA:276058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018700 biolink:NamedThing obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy tmpte7i6ely_mondo_relaxed.owl Orphanet:457062 True owl:Class ORPHA:457062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016329 biolink:NamedThing obsolete familial syndrome associated with hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0005045 True owl:Class DOID:0110561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82562007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:59135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254888007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D021183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763211004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN230268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015116 biolink:NamedThing obsolete rare biliary tract disease OBSOLETE. Rare biliary tract disease. tmpte7i6ely_mondo_relaxed.owl rare biliary tract disease MONDO:0004868 Orphanet:101941|UMLS:CN197473 UMLS:C0005424|UMLS:C0750952 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46775006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702313004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715861004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715425000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32110003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40951006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59708000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:269515006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0006012 biolink:NamedThing scheduled for obsoletion on or after Used when the class or object is scheduled for obsoletion/deprecation on or after a particular date. tmpte7i6ely_mondo_relaxed.owl https://github.com/geneontology/go-ontology/issues/15532|https://github.com/information-artifact-ontology/ontology-metadata/issues/32 GO ontology scheduled for obsoletion on or after Chris Mungall, Jie Zheng owl:AnnotationProperty xsd:dateTime biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62557001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720457000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24790002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:418951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400075008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254887002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1522378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:57145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:478664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231903005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0917715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/230500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044264 biolink:NamedThing obsolete radial loop, plain, on right index finger tmpte7i6ely_mondo_relaxed.owl radial loop, plain, ON right index finger OMIM:312200 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/312200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69116000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363681007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0232867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716771000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89392001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231947004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95518006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372140005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:456333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3899503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717044000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240111007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193468002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN603947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0474442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30144000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48277006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/104400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719250005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C130997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3711380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1513364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1510417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719045009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93451002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1761609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015882 biolink:NamedThing obsolete rare tumor of pancreas OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare pancreatic tumor|rare pancreatic neoplasm|rare pancreas tumor|rare pancreas neoplasm MONDO:0021040 Orphanet:180824 UMLS:C0030297|MedDRA:10061902 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:385483009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:420422005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:542301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0000880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN033898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254464000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/104290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235856003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74474003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020784 biolink:NamedThing obsolete short sleep, familial natural, 1 tmpte7i6ely_mondo_relaxed.owl Short Sleep Phenotype|FNSS1|SHORT SLEEP, FAMILIAL NATURAL, 1 OMIM:612975 True owl:Class https://omim.org/entry/612975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3889474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403977003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4076165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007602 biolink:NamedThing obsolete favism, susceptibility to tmpte7i6ely_mondo_relaxed.owl favism, susceptibility to|moved to {300908} OMIM:134700 MONDO:0010480 True owl:Class MONDO:0016799 biolink:NamedThing obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism tmpte7i6ely_mondo_relaxed.owl OXPHOS disease with no known mechanism out of scope UMLS:CN202054|Orphanet:254822 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO:0016387 True owl:Class UMLS:C0155419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75316000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:317349009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81359005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56576003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233855002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011809 biolink:NamedThing obsolete mammographic density tmpte7i6ely_mondo_relaxed.owl mammographic density MESH:C564595|OMIM:607308 True owl:Class https://omim.org/entry/607308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D043604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS187950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725136003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/122750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3898569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN119531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715504003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50620007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31155007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31993003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002264 biolink:NamedThing obsolete atrophy of prostate tmpte7i6ely_mondo_relaxed.owl prostate atrophy|atrophy of prostate|atrophic prostate SCTID:29524003|UMLS:C0156296|ICD9:602.2|ICD10:N42.2|DOID:2301 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class DOID:2301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129618003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39273001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197808006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239088003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS270300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7632005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443333004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:566243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399912005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397428000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4329660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399068003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015887 biolink:NamedThing obsolete rare diabetes mellitus type 2 tmpte7i6ely_mondo_relaxed.owl rare insulin-independent diabetes mellitus MONDO:outOfScope Orphanet:181376 UMLS:C0011860 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:181376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0451688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254437001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0476089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/117550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:495930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197260007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732932004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68172002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015052 biolink:NamedThing obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. tmpte7i6ely_mondo_relaxed.owl primary ILD specific to childhood due to pulmonary surfactant protein anomalies out of scope Orphanet:100049|UMLS:CN197343 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary interstitial lung disease specific to childhood' MONDO:0017015 True owl:Class UMLS:CN197343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D062027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766050000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60952007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12825006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763275001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719009006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419760006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57044006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017433 biolink:NamedThing obsolete dysostosis with combined reduction defects of upper and lower limbs tmpte7i6ely_mondo_relaxed.owl Orphanet:294957 True owl:Class https://omim.org/entry/245050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:476116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398102009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92413008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733625003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020045 biolink:NamedThing obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98097|UMLS:CN227741|ICD10:G11.3 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autosomal recessive cerebellar ataxia' MONDO:0015244 True owl:Class ORPHA:98097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254145001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:229717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/202660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C141367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/530000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403401007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196753007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2721586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000669.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92663007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0200001 biolink:NamedThing obsolete chromate resistance tmpte7i6ely_mondo_relaxed.owl CHROMATE RESISTANCE|CHR OMIM:118840 True owl:Class https://omim.org/entry/118840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37246009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2492009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230461009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238051008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:450322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707436001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86487001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:37042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN030519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:441452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33666009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1291512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403904009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267592003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:428061005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363417006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359631009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73067008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126925009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111385000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424114000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000806 biolink:NamedThing obsolete horned turban snail allergy OBSOLETE. A allergy involving a Turbo cornutus. tmpte7i6ely_mondo_relaxed.owl Turbo cornutus caused allergic disease|allergy of Turbo cornutus|Turbo cornutus allergic disease|Turbo cornutus allergy MONDO:outOfScope DOID:0060531 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15241006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:370514003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C93268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418143002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001589 biolink:NamedThing obsolete vaginal enterocele tmpte7i6ely_mondo_relaxed.owl vaginal hernia|enterocele ICD10:K46|DOID:1283|SCTID:398061002|ICD10:N81.5|ICD9:618.6 Represents finding. HP:0100672 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class SNOMEDCT:398061002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS142690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3419005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267430007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716281000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68267002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13449007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1533674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400130008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4283893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7611002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190828008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70737009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83898004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018411 biolink:NamedThing obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. tmpte7i6ely_mondo_relaxed.owl rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|rare female infertility due to gonadotropic axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:outOfScope UMLS:CN227354|Orphanet:400011 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:250923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016704 biolink:NamedThing obsolete glial tumor of neuroepithelial tissue with unknown origin tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:251668|UMLS:CN201948 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glioma MONDO:0021042 True owl:Class ORPHA:251668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS237450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62599000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19168005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32230006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C42088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:493342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721090002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:427972000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:417093003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88905005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49748000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721888002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0855011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D061325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:84 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1327918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55846006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2350236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126908007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72124005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254670002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109977009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699311001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72951007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56819008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254146000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:274102007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715907003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414380008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233642001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233629001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020280 biolink:NamedThing obsolete metabolic disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98712|UMLS:CN207083 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class UMLS:CN207083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9446007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:102447009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444728005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237837007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723440000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000004.12 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720854004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7903009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3647449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:181384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373627005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2972007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15847003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51442005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS266900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10269001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367328005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85884009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239084001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719163006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C80078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/247630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018497 biolink:NamedThing obsolete rare autonomic nervous system disorder OBSOLETE. Rare autonomic nervous system disease. tmpte7i6ely_mondo_relaxed.owl rare autonomic nervous system disease MONDO:0001292 Orphanet:423662 UMLS:C1145628 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10014956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720493003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44176004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88154004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764522009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34000006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41115008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015305 biolink:NamedThing obsolete rare endometriosis OBSOLETE. Rare endometriosis. tmpte7i6ely_mondo_relaxed.owl rare endometriosis (disease)|extrapelvic endometriosis|endometriosis outside pelvis|rare endometriosis MONDO:0005133 UMLS:C0404545|SCTID:237117005|Orphanet:137820 ICD10:N80.4|ICD10:N80.6|ICD10:N80.3|UMLS:C0014175|ICD10:N80.1|ICD10:N80.9|ICD10:N80.5|ICD10:N80.0|ICD10:N80.8|ICD10:N80.2 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:237117005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020272 biolink:NamedThing obsolete connective tissue disease with eye involvement tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0003900 True owl:Class https://github.com/monarch-initiative/mondo/issues/3594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:40366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82319005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015654 biolink:NamedThing obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:166475|UMLS:CN200064 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: epilepsy MONDO:0005027 True owl:Class UMLS:CN200064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190966007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703226008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237939006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725050005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55822004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50855007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722207000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408645001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124267007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764854006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204950001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410502007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:87503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN601375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64766004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193523008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:165958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363009005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14189004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95588004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253021007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230746009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29504002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66987001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:497757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95566004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720955004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718556007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044277 biolink:NamedThing obsolete uric acid concentration, serum, quantitative trait locus 4 tmpte7i6ely_mondo_relaxed.owl uric acid concentration, serum, quantitative trait locus 4|gout susceptibility 4|UAQTL4 OMIM:612671 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/612671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253232000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81817003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46152009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:472827002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733519008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363508008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024583 biolink:NamedThing obsolete hernia OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. tmpte7i6ely_mondo_relaxed.owl hernias|enterocele MESH:D006547|NCIT:C34685|ICD10:K40.K46 Represents finding. HP:0100790 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class MESH:D006547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734031008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763793004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015970 biolink:NamedThing obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:183634|UMLS:CN200569 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C564496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448794008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255035007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:1904168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C126864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29120000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763367009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS203655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3698541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111197009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88232005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716105001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:104007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715923003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718602007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359747000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020041 biolink:NamedThing obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98086|UMLS:CN227739 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class ORPHA:98086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1709050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4754008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702381007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404120006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397923000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:225696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/217500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717633007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4321305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN653907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS310700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C33645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2607947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4329672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92405007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254876005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10031243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1262087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126955002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254766004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001932 biolink:NamedThing obsolete atrophic vulva tmpte7i6ely_mondo_relaxed.owl atrophy of vulva|atrophic vulvitis|atrophic vulva DOID:14275|UMLS:C0156393|ICD10:N90.5|ICD9:624.1|SCTID:248861000 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class DOID:14275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186946009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C120162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766251006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129620000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0700594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65038009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37344009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/127200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254796009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10893003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8800006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020090 biolink:NamedThing obsolete male infertility due to gonadal dysgenesis tmpte7i6ely_mondo_relaxed.owl Male infertility due to testicular dysgenesis out of scope Orphanet:98313 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' MONDO:0005372 True owl:Class NCIT:C50503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717812000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:107581000119103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236530006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127006003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:557056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764962002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734030009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1279186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/247610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017957 biolink:NamedThing obsolete unclassified autoinflammatory syndrome tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:324936|UMLS:CN204103 MONDO:0019751 True owl:Class UMLS:CN204103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C77212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732928005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40468003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404078000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:270890001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763457000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371596008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:275259005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31384009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204808002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732933009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702391001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57181007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044280 biolink:NamedThing obsolete glycerol quantitative trait locus tmpte7i6ely_mondo_relaxed.owl Glycerol release during exercise, defective|GLYCQTL|body Mass index quantitative trait locus 17|GLYCEROL quantitative trait locus OMIM:614411 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/614411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111404004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22784002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399956005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718607001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:26137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27886001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60620005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C102993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62727008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017156 biolink:NamedThing obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. tmpte7i6ely_mondo_relaxed.owl PAH associated with chronic hemolytic anemia out of scope EFO:0009195|SCTID:697908003|ICD9:416.8|ICD10:I27.2|Orphanet:275828|UMLS:C3698315 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class SNOMEDCT:80612004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0396058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C161005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722122000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017333 biolink:NamedThing obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism tmpte7i6ely_mondo_relaxed.owl Pol III-related leukodystrophy out of scope Orphanet:289494|UMLS:CN168056 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: leukodystrophy MONDO:0019046 True owl:Class UMLS:C0686237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449784008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276805005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002324 biolink:NamedThing obsolete enamel erosion tmpte7i6ely_mondo_relaxed.owl DOID:2497|ICD9:521.31 obsolete as not a disease True owl:Class DOID:2497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81903006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726358004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3892048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN035931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2007059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS166780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C68744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48216006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724015007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2698359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400166009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92070006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22169002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190309006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D027601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4539985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5601008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:230839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234411007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719990003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024996 biolink:NamedThing obsolete Usher syndrome, type 2b tmpte7i6ely_mondo_relaxed.owl US2B|USH2B MONDO:0011558 GARD:0005441 True owl:Class DOID:0070206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:0050913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/605067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0157696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276822007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS192500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277156006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1509148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0396023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702398007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007641 biolink:NamedThing obsolete Futcher line tmpte7i6ely_mondo_relaxed.owl pigmentary demarcation lines|Futcher line|Voigt lines OMIM:137000 This should not be classified as a disease. The OMIM refs are from 1938, 1940, and 1975, nothing more recent. The language in the entry is dated. True https://github.com/monarch-initiative/mondo/issues/2148 owl:Class https://omim.org/entry/137000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3827253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0456889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73399005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399992009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61170000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0234906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715432009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93353003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295114 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https://omim.org/entry/614278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59990008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238719003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1291264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276821000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398726004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253103006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3541474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/INCATools/ontology-starter-kit/issues/50 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:60003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0028742 biolink:NamedThing obsolete dysostosis with brachydactyly without extraskeletal manifestations tmpte7i6ely_mondo_relaxed.owl Orphanet:498451 True owl:Class MESH:C563335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22500005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83015004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725029001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707625001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4287997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044256 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 5 tmpte7i6ely_mondo_relaxed.owl skin/hair/eye pigmentation 5, dark/Light eyes|SHEP5|skin/hair/eye pigmentation, variation IN, 5|skin/hair/eye pigmentation 5, dark/fair skin|skin/hair/eye pigmentation 5, Black/nonblack hair OMIM:227240 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/227240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4012597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725912001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009753 biolink:NamedThing obsolete neurovisceral storage disease with Curvilinear bodies tmpte7i6ely_mondo_relaxed.owl neurovisceral storage disease with Curvilinear bodies UMLS:C1850382|OMIM:257000|MESH:C564944 True https://github.com/monarch-initiative/hpo-annotation-data/issues/260 owl:Class https://omim.org/entry/257000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70528007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17385007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0348375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017952 biolink:NamedThing obsolete non-familial rare disease with dilated cardiomyopathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN204097|Orphanet:324767 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disease or disorder' MONDO:0000001 True owl:Class MESH:C562561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719975002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3277076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363358000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8234004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN181217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3165028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:525738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018265 biolink:NamedThing obsolete rare disorder with dystonia and other neurologic or systemic manifestation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:370106|UMLS:CN227296 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C174129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726672000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4049066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/425500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46477004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34528009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0334525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:269476000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733492003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017434 biolink:NamedThing obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN203181|Orphanet:294959 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class https://omim.org/entry/614575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0740441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17111003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15802004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65340007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66351003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237714006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732949006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90927000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS190300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83157008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254852002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23067006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23238000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763863002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2211850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766933000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:508093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007347 biolink:NamedThing obsolete Coxsackievirus B3 susceptibility tmpte7i6ely_mondo_relaxed.owl CXB3S|Cb3S|Coxsackievirus B3 susceptibility UMLS:C1861511|OMIM:120050 obsoleted as it represents a susceptibility not a disease True owl:Class https://omim.org/entry/120050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0399379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723828008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80384002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92247009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73237007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111311004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234578009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709489006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2919304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3875011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85042000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703538003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63119004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127027008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:30391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS310300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005128 biolink:NamedThing obsolete sensory system disease OBSOLETE. A disease involving the sensory system. tmpte7i6ely_mondo_relaxed.owl disease of sensory system|sensory system disease or disorder|sensory disease|disease or disorder of sensory system|disorder of sensory system|sensory system disease EFO:0001058|DOID:0050155 True https://github.com/monarch-initiative/mondo/issues/823 owl:Class DOID:0050155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000224 biolink:NamedThing core Core is an instance of a grouping of terms from an ontology or ontologies. It is used by the ontology to identify main classes. tmpte7i6ely_mondo_relaxed.owl True PERSON: Alan Ruttenberg|PERSON: Melanie Courtot owl:NamedIndividual IAO:0000226 biolink:NamedThing placeholder removed tmpte7i6ely_mondo_relaxed.owl placeholder removed owl:NamedIndividual https://omim.org/entry/618824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0157701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022263 biolink:NamedThing obsolete congenital hepatic fibrosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018840 True MONDO:0022266 https://github.com/monarch-initiative/mondo/issues/399 owl:Class https://omim.org/entry/143850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03420165 biolink:NamedThing obsolete: fruit or seed tmpte7i6ely_mondo_relaxed.owl True owl:Class http://www.langual.org/langual_thesaurus.asp?termid=C0165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015881 biolink:NamedThing obsolete gastroesophageal tumor OBSOLETE. A tumor involving the gastroesophageal tissue. tmpte7i6ely_mondo_relaxed.owl rare gastroesophageal tumor Orphanet:180821|UMLS:CN200488 Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist. True https://github.com/monarch-initiative/mondo/issues/1760|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0080106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715727009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254788004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733034007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717859007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724837004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007659 biolink:NamedThing obsolete giant platelet syndrome with thrombocytopenia tmpte7i6ely_mondo_relaxed.owl MESH:C564237|OMIM:137560|UMLS:C1842035 MONDO:0007954 True owl:Class UMLS:C1842035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS265120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020999 biolink:NamedThing obsolete genetic chronic primary adrenal insufficiency tmpte7i6ely_mondo_relaxed.owl Orphanet:101960 True owl:Class ORPHA:477759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49915006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404109006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1318550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78314001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN037252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019937 biolink:NamedThing obsolete rare gynecologic or obstetric disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206853|Orphanet:96344 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C563627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C48280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193844000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47595008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/6300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10040639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89870006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61794006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95243004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:284449005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28189009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721822004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126922007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236811002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/174050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1960469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60485005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29271008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS103900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0054749 biolink:NamedThing obsolete body mass index quantitative trait locus 19 tmpte7i6ely_mondo_relaxed.owl body MASS index quantitative trait locus 19|BMIQ19|obesity, Susceptibility to OMIM:617885 True owl:Class https://omim.org/entry/617885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419503008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007468 biolink:NamedThing obsolete DNA, satellite, alpha type tmpte7i6ely_mondo_relaxed.owl DNA, satellite, alpha type OMIM:126410 Not a disorder True https://github.com/monarch-initiative/mondo/issues/2287 owl:Class https://omim.org/entry/126410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29774004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231934009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68996008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3826988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721228006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017898 biolink:NamedThing obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency. tmpte7i6ely_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive|autosomal recessive MSMD due to a partial deficiency out of scope UMLS:CN203954|ICD10:D84.8|Orphanet:319539 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' MONDO:0020573 True owl:Class DOID:10863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763314009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71404003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/246900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12337004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359729006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716697002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/240800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410049000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716683005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017663 biolink:NamedThing obsolete inherited tremor disorder tmpte7i6ely_mondo_relaxed.owl rare genetic myoclonus out of scope Orphanet:307061|UMLS:CN227173|Orphanet:307064|UMLS:CN227174 MONDO:0005395 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:CN227174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719946008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39788007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/618000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:240760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:390936003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702423009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:251730004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS266600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703270004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359554008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21794005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2745997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414929001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:598216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:543470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28119000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11389007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0700251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64662007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0524582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008126 biolink:NamedThing obsolete oncogene Yuasa tmpte7i6ely_mondo_relaxed.owl oncogene Yuasa OMIM:164891 This is a gene record, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/164891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4011949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0241989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111293003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000068116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719453009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0543541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4082793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52713000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:133898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/615272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111395007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764959000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724384008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255004001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044217 biolink:NamedThing obsolete asparagus, specific smell hypersensitivity tmpte7i6ely_mondo_relaxed.owl asparagus, specific smell hypersensitivity OMIM:108390 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/108390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255109008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64981002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84849002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN469330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:1904167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class ORPHA:98766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:1979160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C27404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1301194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:165658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86095007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719845008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51445007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18834007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:391987005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C14364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186738001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77506005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717799003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128134005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89488007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2674051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723500009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015572 biolink:NamedThing obsolete cerebral malformation due to abnormal neuronal migration tmpte7i6ely_mondo_relaxed.owl non-syndromic cerebral malformation due to abnormal neuronal migration|brain malformation due to abnormal neuronal migration out of scope ICD10:Q04.8|Orphanet:163209 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58. MONDO:0016054 True owl:Class ORPHA:163209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000798 biolink:NamedThing obsolete mollusc allergy OBSOLETE. A allergic disease involving a mollusc food product. tmpte7i6ely_mondo_relaxed.owl allergy of mollusc food product|mollusc food product allergic disease MONDO:outOfScope DOID:0060523 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109492001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84241008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019594 biolink:NamedThing obsolete 46,XY disorder of sex development due to a testosterone synthesis defect tmpte7i6ely_mondo_relaxed.owl 46,XY DSD due to a testosterone synthesis defect out of scope Orphanet:90783|UMLS:CN227656 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class UMLS:CN227656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254708001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:154818001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111303009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416257001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0400822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79586000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126817006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88027004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363429002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1279296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87211000119104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197216007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN924907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:406602003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703543005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017121 biolink:NamedThing obsolete syndrome with a Dandy-Walker malformation as major feature tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN202471|Orphanet:269546 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' MONDO:0002254 True owl:Class SNOMEDCT:51022005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:425120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725590001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1809475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45414006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017369 biolink:NamedThing obsolete autoinflammatory syndrome with immune deficiency tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN203042|Orphanet:290839 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' MONDO:0019751 True owl:Class ORPHA:290839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22905009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C4015537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31097004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:396285007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018295 biolink:NamedThing obsolete congenital disorder of glycosylation with deafness as a major feature tmpte7i6ely_mondo_relaxed.owl CDG with deafness as a major feature MONDO:outOfScope Orphanet:371212 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class MESH:C567605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:409709004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763535005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3552304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/612576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111396008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008531 biolink:NamedThing obsolete T-complex locus TCP10B tmpte7i6ely_mondo_relaxed.owl TCP10B|T-complex locus TCP10B OMIM:187030 True owl:Class https://omim.org/entry/187030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:142811000119104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254806009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0391869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77252004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193410003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:441447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1318543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720940008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92214000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95457000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719302009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C65192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40070004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715487005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40381009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0729582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C150608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS190440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1520084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77817004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700249006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92293007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699014000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:hp.obo#secondary_consequence biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:137831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2210965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766928004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33449004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721862000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:698251009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254627002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/141350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS209850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4317339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726723004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1282983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:499096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1272677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C162775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233949008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254731001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015870 biolink:NamedThing obsolete rare malignant breast tumor OBSOLETE. Any of the forms of breast cancer that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare breast cancer MONDO:0007254 Orphanet:180257|UMLS:CN200474 UMLS:C0006142|UMLS:C0678222 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001872 biolink:NamedThing obsolete vestibular nystagmus tmpte7i6ely_mondo_relaxed.owl obsolete vestibular nystagmus (disease)|vestibular nystagmus|Nystagmus associated with disorder of the vestibular system obsolete vestibular nystagmus (disease) HP:0010542 SCTID:46888001|DOID:14070|ICD9:379.54|UMLS:C0155379 True owl:Class DOID:14070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715724002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240532009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015877 biolink:NamedThing obsolete malformative syndrome with dentinogenesis imperfecta tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN200485|Orphanet:180766 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' MONDO:0019755 True owl:Class ORPHA:180766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D044882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372142002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236740006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702346005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720958002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721310007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765403009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707435002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721296004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1956395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018798 biolink:NamedThing obsolete other genetic dermis disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN776936|Orphanet:477808 Editor note: consider obsoleting True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN776936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:436271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92404006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3711387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0344456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN924920 biolink:NamedThing 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UMLS:C0268461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47641009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:218436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3163678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89454001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721972001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187151009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0348890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63144007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000001.11 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018721 biolink:NamedThing obsolete rare combined vascular malformation tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN242069|Orphanet:458837 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:458837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19598007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88697005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3495801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85039006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:450005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717332007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722065002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239037001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63450009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS116860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:304603007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67569000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN035970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4170004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766981007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414783007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187841006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195029002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26665006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0013001 biolink:NamedThing obsolete synesthesia tmpte7i6ely_mondo_relaxed.owl Synsth|synesthesia OMIM:612759|MESH:C562460 This is not a disease, and may be obsoleted or moved to another hierarchy True https://github.com/monarch-initiative/mondo/issues/1688 owl:Class MESH:C562460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190856003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77098009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57406009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609515005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017717 biolink:NamedThing obsolete metabolic disease due to other fatty acid oxidation disorder tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN203613|ICD10:E71.3|Orphanet:309133 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class UMLS:CN244941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233878008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1721006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020261 biolink:NamedThing obsolete neurological disease with abnormal eye movements tmpte7i6ely_mondo_relaxed.owl abnormal eye movements Orphanet:98691 Obsolete in Orphanet True owl:Class ORPHA:98691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C572845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS271930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764725008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25470000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS602483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58437007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0521542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018789 biolink:NamedThing obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy tmpte7i6ely_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy out of scope Orphanet:477762|UMLS:CN776856 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO:0018788 True owl:Class UMLS:CN227187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423615009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1301359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4011974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403820003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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https://omim.org/entry/615342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015124 biolink:NamedThing obsolete rare adrenal disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005495 Orphanet:101954 UMLS:C0001621 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:12546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702443003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703256004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253783001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/204700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:87884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39479004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:499107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Poaceae biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/615120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81564005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56805008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0041008 biolink:NamedThing obsolete contact dermatitis caused by poison oak tmpte7i6ely_mondo_relaxed.owl contact dermatitis due to poison oak|contact dermatitis caused by poison oak SCTID:200824008|UMLS:C0263283 True owl:Class UMLS:C0263283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:155838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722429003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72083004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707742001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2177002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1960398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389100007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234577004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69463008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423318000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715852004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254878006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C46004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016632 biolink:NamedThing obsolete thrombotic disorder due to a coagulation factors defect tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN226982|Orphanet:248358 MONDO:0000831 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0110240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397568004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733049004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763215008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254956000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242155 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254604005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198322002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398523009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307601000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85166 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl NCIT:C5278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278042005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722035007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:308870004 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tmpte7i6ely_mondo_relaxed.owl DOID:1391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020187 biolink:NamedThing obsolete eyelashes hypertrophy tmpte7i6ely_mondo_relaxed.owl eyelashes trichomegalia|eyelashes polytrichia Orphanet:98597 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class DOID:0070222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403805009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:58208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254642004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236403004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237705001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91489000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54385001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255059002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0231311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020269 biolink:NamedThing obsolete syndromic ichthyosis associated with ocular features OBSOLETE. A ichthyosis associated with ocular features that is part of a larger syndrome. tmpte7i6ely_mondo_relaxed.owl syndrome associated with ichthyosis associated with ocular features|syndromic ichthyosis associated with ocular features UMLS:CN227843|Orphanet:98699 This grouping class is no longer needed. True https://github.com/monarch-initiative/mondo/pull/2571 owl:Class ORPHA:98699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:220497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424568000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312132001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81463002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725461009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D047868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126900000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61960001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128083007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254062008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403975006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/230000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196133001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS168000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720980004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020233 biolink:NamedThing obsolete dentocutaneous disease with cataract tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98649|UMLS:CN207061 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: integumentary system disease' MONDO:0002051 True owl:Class UMLS:CN207061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190785000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204962002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41427001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190787008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:6256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020189 biolink:NamedThing obsolete eyebrow/eyelashes structural anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:98599 HP:0000534|HP:0000499 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class NCIT:C3619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765748009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87628006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:467166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237982007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720632004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN368509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232059000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89420002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:400022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416209007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044977 biolink:NamedThing obsolete disease of receptor activity tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:CN202284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21857006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:318316003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66259004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77507001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:66633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1337035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400946004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764096006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719218000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239112008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019658 biolink:NamedThing obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation tmpte7i6ely_mondo_relaxed.owl UMLS:CN206531|ICD10:N04.3|Orphanet:93222 Obsolete in Orphanet MONDO:0019006 True owl:Class UMLS:CN206531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363413005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:263225007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715634002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719825000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67667007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73328005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3814534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0917981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:134031000119108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721088003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:44782008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721161005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715864007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40108008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62677000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0150005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3828464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703527003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3165521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017163 biolink:NamedThing obsolete hemolytic disease due to fetomaternal alloimmunization tmpte7i6ely_mondo_relaxed.owl hemolytic disease of the fetus and newborn out of scope ICD10:P55.0|ICD10:P55.9|UMLS:CN202585|ICD10:P55.8|Orphanet:275938|ICD10:P55.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' MONDO:0003664 True owl:Class ORPHA:275938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77358003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363468009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702432006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D021181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73998008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006674 biolink:NamedThing obsolete benign fibrous mesothelioma OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. tmpte7i6ely_mondo_relaxed.owl solitary fibrous tumor, pleural|fibrous mesothelioma, benign|fibrous mesothelioma, benign (morphologic abnormality)|localized benign fibrous mesothelioma out of scope DOID:2653|MESH:D054363|UMLS:C0334511 From NCIT: Fibrous mesothelioma (benign) is a terribly antiquated term. Even decades ago when it was reported, it was not described as being associated with neoplastic mesothelial cell proliferation. MONDO:0021041 True https://github.com/monarch-initiative/mondo/issues/3701 owl:Class UMLS:C0334511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:54260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91576008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721194008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64716005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54711002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193428001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448992002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:225713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:420174000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15539009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/183600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717224002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D049950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56905009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118932009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN847585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1377909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://ungc-communications-assets.s3.amazonaws.com/docs/publications/The-Seaweed-Manifesto.pdf biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240453002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN714013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS133780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:57196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/139090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127018007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609221008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722434004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C178236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240196003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10128002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724282009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80651009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007149 biolink:NamedThing obsolete arbitrary restriction polymorphism 1 tmpte7i6ely_mondo_relaxed.owl anonymous restriction polymorphism 1|arbitrary restriction polymorphism type 1|arbitrary restriction polymorphism 1|restriction fragment length polymorphism 14A|Rflp-14A|Arp-14A UMLS:C1862555|OMIM:107750 This is a gene/protein record, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class UMLS:C1862555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725907002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2109003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237795006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS155600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307576001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN232116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71325002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715406003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109383000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400040008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69896004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363403002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044253 biolink:NamedThing obsolete dermatoglyphics--palmar triradius d, absence of tmpte7i6ely_mondo_relaxed.owl dermatoglyphics--palmar triradius d, absence of OMIM:221760 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/221760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26373009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0045029 biolink:NamedThing obsolete Deuteromycetes infectious disease tmpte7i6ely_mondo_relaxed.owl infection caused by Deuteromycetes|infection by Deuteromycetes SCTID:59258008 MONDO:0002041 True owl:Class SNOMEDCT:59258008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4084842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13285005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126975006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230500006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0853695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3698095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29570005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1367654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715343000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:77608001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254756007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726338000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28790007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372063002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3274143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373426005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:100233350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766982000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:7334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188264002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88923002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:223176004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:456312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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MONDO:0021194 biolink:NamedThing obsolete disease by subcellular system affected OBSOLETE. A grouping of diseases based on molecular activity, cellular process or subcellular component. tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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tmpte7i6ely_mondo_relaxed.owl DOID:0110170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721221000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2108396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:29822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65636009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13585 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tmpte7i6ely_mondo_relaxed.owl MESH:C562406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85551004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D022861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91981009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715652002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128207002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118285006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725462002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763203009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45261009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255006004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78667006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703522009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443094001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C81315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15890002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000805 biolink:NamedThing obsolete snail allergy OBSOLETE. A allergic disease involving a snail food product. tmpte7i6ely_mondo_relaxed.owl snail food product allergic disease|allergy of snail food product MONDO:outOfScope DOID:0060530 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C000596385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363516004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36485005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64613007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C162484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716232002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2884008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51247001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3752003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10810001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699268002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79830009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/124100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1748006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92643000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0917799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5758002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019750 biolink:NamedThing obsolete rare renal disease OBSOLETE. Any of the forms of urinary system disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare kidney disease|rare urinary system disease MONDO:0005240 Orphanet:93626|UMLS:CN206681 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:12705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C166371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:0050250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719651000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715986009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363495004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699356008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763309005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56097005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/508459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205649008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0002891 biolink:NamedThing obsolete gastrointestinal neuroendocrine benign tumor tmpte7i6ely_mondo_relaxed.owl DOID:4148 Obsoleted as the semantics of the corresponding DOID class were not clear. The label says benign but it is mapped to status-neutral neoplasm in NCIT True owl:Class DOID:4148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43929004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722458000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764845008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010107 biolink:NamedThing obsolete testicular regression syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:800012 This term was split into two terms: MONDO:8000015 46,XY SEX REVERSAL 11 and MONDO:800012 testicular regression syndrome'. True owl:Class https://github.com/monarch-initiative/mondo/issues/1447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:200722003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/553000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23986001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35455006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS120435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190303007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20343006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:195021004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239064000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2391001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93471006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363494000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253383003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011526 biolink:NamedThing obsolete Sebastian syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007954 NCIT:C131650 True owl:Class NCIT:C131650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2674616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719584008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187722004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128477000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703233008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11687002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707796002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03420174 biolink:NamedThing obsolete: part of plant Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant. tmpte7i6ely_mondo_relaxed.owl True http://langual.org owl:Class SNOMEDCT:191260004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88393000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719297006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109478007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14094001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314428001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/184250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021062 biolink:NamedThing obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary tmpte7i6ely_mondo_relaxed.owl MONDO:0016382 Orphanet:306539|UMLS:CN203514 True owl:Class UMLS:CN203514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0497538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254102008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720496006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3536797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79195003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38739001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4054897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4012050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719013004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0574090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63684002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360375007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044219 biolink:NamedThing obsolete blood group, duffy system OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}). tmpte7i6ely_mondo_relaxed.owl Plasmodium vivax, resistance to|FY|blood group, DUFFY system|Duffy blood Group system OMIM:110700 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/110700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191618007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3715165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205834002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:767130007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5552004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000013.11 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254613007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765138001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/170390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255045009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109842005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85721000119105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001362 biolink:NamedThing obsolete leukocoria OBSOLETE. An abnormal white reflection from the retina of the eye. tmpte7i6ely_mondo_relaxed.owl HP:0000555 ICD10:H44.53|DOID:11772|ICD9:360.44|SCTID:1361009|UMLS:C0152458 Obsoleted as it represents a feature/finding True owl:Class SNOMEDCT:1361009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733195008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82661006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720976009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5900006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:282124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/202650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0852077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734029004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188153009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10004550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3552343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277602003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0495106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38804009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:418959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403545005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0812413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS215500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367403001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/217100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95794005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719097002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254646001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:255182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716651004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0559460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67242002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414603003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716277000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54280009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS278300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020842 biolink:NamedThing obsolete medullary carcinoma OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ. tmpte7i6ely_mondo_relaxed.owl NCIT:C8998 MONDO:0005063|MONDO:0015277 True owl:Class NCIT:C8998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015173 biolink:NamedThing obsolete autoimmune enteropathy type 2 tmpte7i6ely_mondo_relaxed.owl UMLS:CN226616|Orphanet:103916|ICD10:K52.8 Obsolete in Orphanet Orphanet:522043 True owl:Class ORPHA:103916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717813005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C102870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43226001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699298009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277571004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124322002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0574079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254653005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236706006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718720007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3277235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:432504007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1318562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011127 biolink:NamedThing obsolete Bartter disease type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0100344 True https://github.com/monarch-initiative/mondo/issues/2935 owl:Class DOID:11541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:281241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017680 biolink:NamedThing obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature tmpte7i6ely_mondo_relaxed.owl autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature Orphanet:308041|UMLS:CN203567 True https://github.com/monarch-initiative/mondo/pull/2317 owl:Class ORPHA:308041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699756005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D042883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81854007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230314007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3484357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399329002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253017000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1880119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS151100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1706802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4054044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716456000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277545003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238772004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26117009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40733004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:37962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:720950009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23849003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403909004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0917890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62335009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128210009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21984008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402601007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS304500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719944006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C4225322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1318020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254620000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720456009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614371 biolink:NamedThing 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SNOMEDCT:433493000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#DEPRECATED biolink:NamedThing A synonym that is historic and discouraged tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:13918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3273031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76886005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719431007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126770008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010346 biolink:NamedThing obsolete MRX52 tmpte7i6ely_mondo_relaxed.owl MONDO:0010317 OMIM:300504 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/2329 owl:Class https://omim.org/entry/300504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:393564001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127069007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403967000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4359001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:49566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0950121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233621003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:512260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36715001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C7469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768472004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238762002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91955005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725103004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009117 biolink:NamedThing obsolete disorganization, mouse, homolog of tmpte7i6ely_mondo_relaxed.owl Ds|disorganization, mouse, homolog OF UMLS:C1857230|OMIM:223200 True owl:Class https://omim.org/entry/223200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1562462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79883001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724171006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70917000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234146006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717705004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128606002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:160148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717261006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709075008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS230400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82212003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254664008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238045003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719811001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61094002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:122811000119101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015581 biolink:NamedThing obsolete bile acid synthesis defect with cholestasis and malabsorption tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:163631|ICD10:K76.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of bile acid synthesis' MONDO:0019218 True owl:Class ORPHA:163631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609574004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81060008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53084003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1688637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67832005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68575007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2960633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN029449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0033196 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in tmpte7i6ely_mondo_relaxed.owl OMIMPS:227220 True owl:Class https://omim.org/phenotypicSeries/PS227220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:418801006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:424802006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35484002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10038914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000069281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3472711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232262007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN778765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54792008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725164008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234554004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764945007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS257920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0863015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017635 biolink:NamedThing obsolete parkinsonian syndrome due to neurodegenerative disease tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:306666|UMLS:CN203530 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: parkinsonian disorder' MONDO:0021095 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:306666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0277351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720978005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720410001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:248315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83330001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32893002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253148005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS308240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719520001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718182008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1444621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2937288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722031003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017308 biolink:NamedThing obsolete Marfan syndrome type 2 OBSOLETE. Hypothesized form of Marfan; dubious tmpte7i6ely_mondo_relaxed.owl Marfan syndrome type II|MFS2 MONDO:0012427 MESH:C535911|ICD10:Q87.4|Orphanet:284973|OMIM:610168|UMLS:C2698016|NCIT:C75007|UMLS:C2931058 True owl:Class NCIT:C75007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84706005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN895589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41918006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C112836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D030243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448131008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C543092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398963001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359643005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:41751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233906007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719510006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1168401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93151007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188718006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0000789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C40026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276812001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1608393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18687009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237268002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:C0023462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32883009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS127550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0018732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:D002761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3501611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017260 biolink:NamedThing obsolete systemic diseases with posterior uveitis tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN202778|Orphanet:280930 This is a grouping class that is considered out of scope. MONDO:0006918 True owl:Class NCIT:C5247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:576074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718900002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/127550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719824001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4086533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447888006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71057007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716663009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020106 biolink:NamedThing obsolete hemolytic anemia due to a disorder of glycolytic enzymes tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:D55.2|Orphanet:98372|UMLS:CN227783 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' MONDO:0003664 True owl:Class https://omim.org/entry/617862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59174009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020142 biolink:NamedThing obsolete metabolic disease with dementia tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:98543|UMLS:CN207023 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease MONDO:0005066 True owl:Class ORPHA:98543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399107008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193922006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414819007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:425558002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724351008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:241006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN842244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39194005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS616418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719096006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445257004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN536249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16297002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29074008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266438007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS176400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0580181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0855009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300559 biolink:NamedThing 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chromosomal anomaly tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class NCIT:C5513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85589009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:538931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302828001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79509009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205329008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254085009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718691008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238074007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191397007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9631008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo#not_a_disease biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl classes that do not represent diseases owl:AnnotationProperty SNOMEDCT:87807004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015112 biolink:NamedThing obsolete rare pancreatic disease OBSOLETE. Any of the forms of pancreas disease that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare pancreas disease MONDO:0002356 Orphanet:101937 UMLS:C0030286 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372146004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN229031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020624 biolink:NamedThing obsolete blood group--waldner type tmpte7i6ely_mondo_relaxed.owl Waldner Blood Group Antigen|WD|BLOOD GROUP--WALDNER TYPE OMIM:112010 True owl:Class https://omim.org/entry/112010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190773008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129623003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44245003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30915001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65520001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/149400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020623 biolink:NamedThing obsolete blood group--ul system tmpte7i6ely_mondo_relaxed.owl UL|BLOOD GROUP--Ul SYSTEM OMIM:112000 True owl:Class https://omim.org/entry/112000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C42048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:118941004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63480004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010527 biolink:NamedThing obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010671 OMIM:301590 True https://github.com/monarch-initiative/mondo/issues/3803 owl:Class https://omim.org/entry/301590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:405950009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10000871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0919940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363400004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732956000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76092003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76175005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765326001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254988008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30330001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:59181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415111003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1561989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000780 biolink:NamedThing obsolete apricot allergy OBSOLETE. A allergy involving a Prunus armeniaca. tmpte7i6ely_mondo_relaxed.owl Prunus armeniaca allergic disease|allergy of Prunus armeniaca|Prunus armeniaca fruit allergy|Prunus armeniaca caused allergic disease MONDO:outOfScope DOID:0060505 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/619103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0749163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36233006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044223 biolink:NamedThing obsolete radin blood group antigen tmpte7i6ely_mondo_relaxed.owl RADIN blood group antigen|RD|blood Group--Radin antigen OMIM:111620 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020105 biolink:NamedThing obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:D55.1|Orphanet:98370 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' MONDO:0003664 True owl:Class ORPHA:98370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254249002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70647001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS259900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:706885006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3541853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1867300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700057001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1272167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80281008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69186005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720638000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN230130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254088006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55647004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2029348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716022002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS224050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713886006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254863004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126680004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66308002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:373168002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Maize biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:C40040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69339004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28670008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10046879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:248302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763377006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65399007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703525006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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SNOMEDCT:38292009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238436005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537133 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363378008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230310003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:275446004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:103907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1321870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60492000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1449809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721902002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:84 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55133004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719213009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65617004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20943002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52979002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201060008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724356003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0729734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205808005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2403008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017154 biolink:NamedThing obsolete pulmonary arterial hypertension associated with portal hypertension OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. tmpte7i6ely_mondo_relaxed.owl POPH|Portopulmonary hypertension|PAH associated with portal hypertension out of scope Orphanet:275813|EFO:0009197|SCTID:445237003|ICD10:I27.2|UMLS:C1868851 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' MONDO:0015924 True owl:Class ORPHA:275813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D023521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0391970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1301262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54767005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0348970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126858004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D047688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/262020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86514004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79886009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000684.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715656004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233646003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84193000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702358005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3266863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:274134003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765750001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN035113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188152004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/545000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1328042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719204007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204145006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126489007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699256006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000049 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated tmpte7i6ely_mondo_relaxed.owl UMLS:CN228622|OMIMPS:610799 Obsolete in OMIM. MONDO:0021094 True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class UMLS:CN228622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129104009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0700595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020277 biolink:NamedThing obsolete ectodermal malformation syndrome associated with ocular features tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0005328 True owl:Class MESH:D054331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111527005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51744007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0400923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:162526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721147000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61288004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76105009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23817003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN860323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716584007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81634008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0348782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0033571 biolink:NamedThing obsolete skeletal muscle glycogen content and metabolism quantitative trait locus tmpte7i6ely_mondo_relaxed.owl SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS|SMGMQTL OMIM:619030 Not a disease. True https://github.com/monarch-initiative/mondo/issues/2260 owl:Class https://omim.org/entry/619030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195759002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733454004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253038006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS202200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38403006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109853004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87819007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719395001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72682008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445741003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58833000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020803 biolink:NamedThing obsolete bundle branch block OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart. tmpte7i6ely_mondo_relaxed.owl SCTID:6374002 HP:0011710 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class MESH:C565941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367520004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017971 biolink:NamedThing obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect tmpte7i6ely_mondo_relaxed.owl 46,XY DSD due to a cholesterol synthesis defect out of scope Orphanet:325511|UMLS:CN227234 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class UMLS:CN227234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:199267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35265002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C107101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254819008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0544008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C88411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0861859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52954000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718219002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766816008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C45525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:481152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718221007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764957003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN231446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237659007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763462004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS184260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN130080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717943008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35111009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95412009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024348 biolink:NamedThing obsolete pityriasis capitis tmpte7i6ely_mondo_relaxed.owl pityriasis capitis out of scope SCTID:400201008 Reason: out of scope. True owl:Class SNOMEDCT:400201008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS227650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722057000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/273400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0080024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:15 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/126550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1527406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4288047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001445 biolink:NamedThing obsolete neurogenic bladder OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). tmpte7i6ely_mondo_relaxed.owl neurogenic bladder|neurogenic dysfunction of the urinary bladder|obsolete neurogenic bladder (disease)|neuropathic bladder|neurogenic urinary bladder disorder obsolete neurogenic bladder (disease) UMLS:C0005697|DOID:12143|MESH:D001750|ICD9:596.54|SCTID:398064005|NCIT:C79696|HP:0000011 HP:0000011 True https://github.com/monarch-initiative/mondo/issues/974 owl:Class NCIT:C79696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31021007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:214600002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10021076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C63743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1997362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47709007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11666007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:282166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82642007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:NCBITaxon#_species_subgroup biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254651007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN118841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45582004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C557818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111420009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443095000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/265120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765331004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128082002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72000004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS146200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/308200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29966009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1562817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193756007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237946002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:210581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50926003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:451030007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42094007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718848000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000803 biolink:NamedThing obsolete tiger prawn allergy OBSOLETE. A allergy involving a Penaeus monodon. tmpte7i6ely_mondo_relaxed.owl Penaeus monodon allergy|allergy of Penaeus monodon|Penaeus monodon allergic disease|Penaeus monodon caused allergic disease MONDO:outOfScope DOID:0060528 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2945695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:791000124107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:695751021000132104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129133005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707387004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022200 biolink:NamedThing obsolete treatment for disease tmpte7i6ely_mondo_relaxed.owl out of scope This modifier will be obsoleted in favor of MAO. Reason: out of scope. Term to consider: MAXO:0000002. MAXO:0000002 True owl:Class https://github.com/monarch-initiative/mondo/issues/3981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197585004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN035918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720861000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018539 biolink:NamedThing obsolete rare epithelial tumor of small intestine tmpte7i6ely_mondo_relaxed.owl rare epithelial tumor of small bowel MONDO:outOfScope Orphanet:425368|UMLS:CN237541 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN237541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718911005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37754005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:707405009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722114007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0456517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448147005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:281170005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93472004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1384416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68222009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1622502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64855000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126559003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C000600608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12427005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111865007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85051008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:43116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154669 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65443008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:441809006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445918001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3662139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238012003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3838731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C48259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230246005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN248515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3489725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/602588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230332007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:41842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19034001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:18 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715987000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238968009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3469605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254654004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403889000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007521 biolink:NamedThing obsolete egasyn tmpte7i6ely_mondo_relaxed.owl egasyn|esterase 22 OMIM:129905 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/129905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN168056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000422 biolink:NamedThing obsolete inborn glycogen metabolism disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0002412 True owl:Class ORPHA:1486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:43115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719848005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0519030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5187006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001662 biolink:NamedThing obsolete right bundle branch block tmpte7i6ely_mondo_relaxed.owl right bundle branch block|obsolete right bundle branch block (disease)|right bundle branch block with left posterior fascicular block obsolete right bundle branch block (disease) ICD9:426.4|HP:0011712|ICD9:426.51|DOID:13209|SCTID:59118001 HP:0011712 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class SNOMEDCT:59118001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:508488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75610003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/131375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237613005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0259799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23732000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017459 biolink:NamedThing obsolete central polydactyly of toes tmpte7i6ely_mondo_relaxed.owl mesoaxial polydactyly of toes|mirror foot|central polydactyly of foot SCTID:253967005|Orphanet:295010|ICD10:Q69.2 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:363677007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403395007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724344004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS189800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0157738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/144010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21070001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3273225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016403 biolink:NamedThing obsolete mitochondrial disease with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl out of scope UMLS:CN201332|Orphanet:225703 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' MONDO:0004069 True owl:Class UMLS:C3150941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4084708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718689000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:331223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239028001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240880004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32361000119104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190952002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:422833009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0004882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C123171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:156370009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92170008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399617002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:32 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016665 biolink:NamedThing obsolete unclassified vasculitis tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:M31.8|Orphanet:251328 MONDO:0018882 True owl:Class ORPHA:251328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0860251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty DOID:5782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126909004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:179494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75241009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS107480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404040002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39288006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37657006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1271398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197661001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50442003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS605389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239087008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195136004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254570009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38645004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722439009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:73267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015575 biolink:NamedThing obsolete rare bacterial infectious disease OBSOLETE. Rare bacterial infectious disease. tmpte7i6ely_mondo_relaxed.owl rare bacterial infectious disease MONDO:0005113 Orphanet:163582 UMLS:C0004623 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C565538 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95280005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10031302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C4303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276206000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63951004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20610004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN033164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123963007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75570004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75694006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719475006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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ORPHA:100056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0044699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0024790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN240511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS619142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/124000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/237500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48113006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195353004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363360003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044255 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 1 OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501). tmpte7i6ely_mondo_relaxed.owl eye color 3|Brown eye color 2|skin/hair/eye pigmentation, variation IN, 1|skin/hair/eye pigmentation 1, blue/Nonblue eyes|eye color, Brown/blue|skin/hair/eye pigmentation 1, blue/Brown eyes|SHEP1|eye color, blue/Nonblue|skin/hair/eye pigmentation 1, Blond/Brown hair|hair color 3 OMIM:227220 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/227220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187675005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237444008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019749 biolink:NamedThing obsolete rare renal tumor OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare kidney neoplasm MONDO:0021163 Orphanet:93619 UMLS:C0022665 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0036118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:35237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:195042002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10033890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0311273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41910004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126920004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C0278804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:9899009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22764001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:17 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C64938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25225006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/141500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044265 biolink:NamedThing obsolete tooth size tmpte7i6ely_mondo_relaxed.owl tooth size OMIM:314240 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/314240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766753005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1135191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188151006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018388 biolink:NamedThing obsolete rare male infertility due to testicular endocrine disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227336|Orphanet:399685 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0060716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719514002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10035040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3854394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5127009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124275001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126703006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044246 biolink:NamedThing obsolete nystagmus, voluntary OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}). tmpte7i6ely_mondo_relaxed.owl NYSTAGMUS, voluntary OMIM:164170 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/164170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015707 biolink:NamedThing obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies tmpte7i6ely_mondo_relaxed.owl Out of scope Orphanet:169346 MONDO:0018035 True https://github.com/monarch-initiative/mondo/issues/3191 owl:Class ORPHA:169346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:282196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234478007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2004487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3661979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275062 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93132001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92412003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86341008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40527005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68659002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3944006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235878005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398250003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:425127006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0002818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C27262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:35268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/616875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:712750007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371160000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:250972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197848003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:81 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38394007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN842245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41841004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/142623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024544 biolink:NamedThing obsolete Heimler syndrome 1 tmpte7i6ely_mondo_relaxed.owl peroxisome biogenesis disorder 1C|HMLR1|HEIMLER syndrome 1|hearing loss, sensorineural, with enamel hypoplasia and nail defects out of scope UMLS:C1856186|OMIM:234580|Orphanet:3220|DOID:0080623 MONDO:0100259 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class DOID:0080623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:315058005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0431391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254114000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277637000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/246555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:270491006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4053506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190724004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360339005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715704001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254855000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018036 biolink:NamedThing obsolete immunodeficiency due to absence of thymus tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:D81.4|Orphanet:331220 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' MONDO:0003778 True owl:Class ORPHA:331220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230247001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719577000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:48 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015224 biolink:NamedThing obsolete rare intoxication OBSOLETE. Any of the forms of poisoning that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare poisoning MONDO:0029000 UMLS:CN226640|Orphanet:108999 Editor note: consider obsoleting True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:108999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015680 biolink:NamedThing obsolete rare pervasive developmental disorder OBSOLETE. Rare pervasive developmental disorder. tmpte7i6ely_mondo_relaxed.owl rare PDD|rare autism spectrum disorder|rare ASD|rare pervasive developmental disorder MONDO:0000594 Orphanet:168778 ICD10:F84.1|MESH:D002659|ICD10:F84.5|ICD10:F84.0|ICD10:F84.4|ICD10:F84.2|ICD10:F84.8|ICD10:F84.3|MedDRA:10061345|UMLS:C0524528|ICD10:F84.9 True https://github.com/Orphanet/ORDO/issues/21|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0023138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723508002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363430007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82636008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C70646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68779003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127030001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126839008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40410004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78373000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240820001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/113950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31325007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109844006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016134 biolink:NamedThing obsolete rare hereditary systemic disease with peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200898|Orphanet:207021 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN200898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:608817003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195180004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387922007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447883002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN119605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95281009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0855073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:227796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124309005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0086431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86500004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53593008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0699744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254113006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/178200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1135873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:58756001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25188002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10060360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715753001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:105261000119101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92385005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0752330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:285344007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716007007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89369001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726735000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239062001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1960561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59898000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718099006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1956257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022201 biolink:NamedThing obsolete has treatment by surgery tmpte7i6ely_mondo_relaxed.owl out of scope Reason: out of scope. Term to consider: MAXO:0000004. MAXO:0000004 True https://github.com/monarch-initiative/mondo-build/issues/75 owl:Class https://omim.org/entry/103500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:65682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl ORPHA:90118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201195008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN881103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86635005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0005251 biolink:NamedThing obsolete pauciarticular juvenile rheumatoid arthritis OBSOLETE. A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children. tmpte7i6ely_mondo_relaxed.owl SCTID:74391003|ICD9:714.32|ICD10:M08.4|EFO:0003114 True owl:Class SNOMEDCT:74391003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717182006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D031368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl NCIT:C4717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:409658007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60743005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D051303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D046350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1112577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25044007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63835008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11543004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54954004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237041005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4302551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92289001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765216006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/269720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:389203001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C159412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/614652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS138800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703523004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186172004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010301 biolink:NamedThing obsolete thrombocythemia, X-linked tmpte7i6ely_mondo_relaxed.owl obsoleted in source MONDO:0019111 True owl:Class https://github.com/monarch-initiative/mondo/issues/3172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715464002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D028922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720984008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:400008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19877001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609328004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS174050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38215007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719010001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS164400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C171299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768554008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2242894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765136002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48976006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:92 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016234 biolink:NamedThing obsolete rare arteriovenous malformation OBSOLETE. Rare arteriovenous malformation. tmpte7i6ely_mondo_relaxed.owl rare arteriovenous hemangioma/malformation|rare arteriovenous malformation MONDO:0001256 Orphanet:211266|UMLS:CN226888 UMLS:C0334533|MedDRA:10003193|ICD10:Q27.3|MESH:D001165|UMLS:C0003857 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0020258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404089007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15628003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725141006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128869009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017956 biolink:NamedThing obsolete mixed autoinflammatory and autoimmune syndrome tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:324933|UMLS:CN204102 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' MONDO:0019751 True owl:Class UMLS:C2931448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D060426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84757009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254994000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47014000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723455009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61831009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93018000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237913008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:408335007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1264040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404065000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230155003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN032489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92241005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:482601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35586003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13645005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:538963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/191400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41888000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0861856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021103 biolink:NamedThing obsolete collagen diseases OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) tmpte7i6ely_mondo_relaxed.owl collagen disease|diseases, collagen|collagen disorder|disease, collagen UMLS:C0009326|ICD9:710.8|DOID:854|ICD9:710.9|MESH:D003095|SCTID:81573002 MONDO:0005554|MONDO:0003900 True owl:Class SNOMEDCT:81573002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723360007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45339001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723383005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C66756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399294002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3345002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0699791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30270006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68216000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700463002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS133200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35339003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253143001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64228003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015123 biolink:NamedThing obsolete rare inherited dyslipidemia OBSOLETE. Rare lipid metabolism disorder. tmpte7i6ely_mondo_relaxed.owl rare dyslipidemia|rare lipid metabolism disorder MONDO:0002525 Orphanet:101953 ICD10:E78.3|ICD10:E78.4|ICD10:E78.9|UMLS:C0242339|ICD10:E78.8|ICD10:E78.6|ICD10:E78.2|ICD10:E78.0|ICD10:E78.1|ICD10:E78.5 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0474824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715904005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55129006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73856006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:45358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190905008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:331235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:417006004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:293586001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719989007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127012008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190817009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110930 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl NCIT:C99102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/310500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236811000119101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2355625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:294026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443502000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN570502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:436182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019515 biolink:NamedThing obsolete rare dementia OBSOLETE. 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:397623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/231900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371197005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2363973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61565001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201113 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87522002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23014006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:240094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21851000119103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0175704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:49804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312927001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000275 biolink:NamedThing obsolete monogenic disease OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). tmpte7i6ely_mondo_relaxed.owl DOID:0050177 MONDO:0003847 True https://github.com/monarch-initiative/mondo/issues/1758 owl:Class DOID:0050177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10035154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719684000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:417441005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3493776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3840102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024236 biolink:NamedThing obsolete degenerative disorder OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues. tmpte7i6ely_mondo_relaxed.owl degenerative disease|degenerative disorder NCIT:C27090|ICD9:796.4|SCTID:362975008|UMLS:C1285162 The subclasses were not a disease but a feature or a process. True https://github.com/monarch-initiative/mondo/issues/528 owl:Class SNOMEDCT:362975008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414916001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80466000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:CN207319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4545229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018412 biolink:NamedThing obsolete rare female infertility due to adrenal disorder of genetic origin tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:400018|UMLS:CN227355 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:4154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020871 biolink:NamedThing obsolete name syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015285 Orphanet:623 True owl:Class ORPHA:623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237945003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10009259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS134600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609398007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1171349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015187 biolink:NamedThing obsolete rare inflammatory bowel disease OBSOLETE. Rare inflammatory bowel disease. tmpte7i6ely_mondo_relaxed.owl rare inflammatory bowel disease MONDO:0005265 Orphanet:104012 UMLS:C0021390 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:5534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3496579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3900122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237612000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017085 biolink:NamedThing obsolete malformation of the neurenteric canal, spinal cord and column tmpte7i6ely_mondo_relaxed.owl Orphanet:268843 True owl:Class ORPHA:98694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719258003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715654001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10047115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17322007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717765001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403942003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1857005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0685118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254829001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734021001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:325109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711524008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C130998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76976005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715830008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39905002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449270002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717963001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205562004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15892005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33225004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715807002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:497906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535432 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tmpte7i6ely_mondo_relaxed.owl NCIT:C43295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:285014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS160150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68272006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720856002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:413656006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23680005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449730005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10040798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254661000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703536004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359732009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86470003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3896673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:415300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277189006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/237800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92059004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060147 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:202809009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763792009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702809001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:250999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/100300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47028006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS228550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D030981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31659000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:712989008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372936000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725098001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198324001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:427617000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2075522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1257809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719202006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13213009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363426009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715754007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017653 biolink:NamedThing obsolete epilepsy and/or ataxia with myoclonus as major feature tmpte7i6ely_mondo_relaxed.owl Orphanet:306756 True owl:Class UMLS:C1834418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C134941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397810006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/274205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230381009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82077006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0012501 biolink:NamedThing obsolete mutagen sensitivity tmpte7i6ely_mondo_relaxed.owl mutagen sensitivity OMIM:610452|GARD:0008273 Reason: out of scope. 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186963008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72315009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720511000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82649003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52333004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:439143004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238695001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0748473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95202004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl UMLS:CN203759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44250009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720513002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204153003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601794 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl UMLS:CN227178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41545003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35111000119109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C110940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0684828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:390834004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2589008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0700299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722343009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73452002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733606001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:544628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C42700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0277108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3805604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:613003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/157980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/155601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31323000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720413004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4551602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725592009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254229006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609576002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764435003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60812006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203923004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763616002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702376003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:211017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:221139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722059002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92422009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111807001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28366008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715797002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016793 biolink:NamedThing obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA tmpte7i6ely_mondo_relaxed.owl OXPHOS disease due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA|mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA out of scope Orphanet:254776|UMLS:CN202050 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO:0016387 True owl:Class NCIT:C6921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:709018004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371582002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83414005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13144005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238050009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91478007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0008415 biolink:NamedThing obsolete Scholte syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010505 OMIM:181515 Replaced by https://omim.org/entry/300977 in OMIM True owl:Class https://omim.org/entry/181515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2937286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853733 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015226 biolink:NamedThing obsolete syndrome with limb malformations as a major feature tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Orphanet:109009|UMLS:CN197565 ICD10:Q87.2 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:398768004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23892008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717917007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/619521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:761958009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/580000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195295006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64250002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126693009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2184126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400036004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016667 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl UMLS:C4304526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2040007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233901002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766252004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262833 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl MESH:C537319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719659003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:109009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724039002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3552553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56989000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10017374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:429753001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27059002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020618 biolink:NamedThing obsolete blood group--private systems tmpte7i6ely_mondo_relaxed.owl BLOOD GROUP--PRIVATE SYSTEMS|antigenic Determinants of Low Frequency in the Population OMIM:111500 True owl:Class https://omim.org/entry/111500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:698250005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50815 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726722009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0694548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021665 biolink:NamedThing obsolete Refsum disease OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. tmpte7i6ely_mondo_relaxed.owl NCIT:C85043 This class was intended for representing the union of infantile and adult Refsum diseases, but these are distinct with no genetics or phenotypes in common. MONDO:0009958 True owl:Class NCIT:C85043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3828832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363379000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C141423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89449005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43935004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2987240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4013948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721233005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14232007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724350009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS202700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36071006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14637005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/119000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C156430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000117 biolink:NamedThing term editor Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people tmpte7i6ely_mondo_relaxed.owl GROUP:OBI: 20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115. term editor PERSON:Daniel Schober owl:AnnotationProperty MESH:C536683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26125006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80734006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1301048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4048809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0236026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020625 biolink:NamedThing obsolete blood group--wright antigen tmpte7i6ely_mondo_relaxed.owl WR|Wright Blood Group Antigen|BLOOD GROUP--WRIGHT ANTIGEN OMIM:112050 True owl:Class https://omim.org/entry/112050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718765003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4050064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS206500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1384403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003420 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713293002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/313490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:718 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MESH:C567145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312956001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS605711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3489724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050787 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/208928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016363 biolink:NamedThing obsolete rare hereditary hemochromatosis OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43763009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D047728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl DOID:10568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/253400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191736004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D060048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711155008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725908007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1291299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723362004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720573009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34748004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92691004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:123843001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1968602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725591002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018414 biolink:NamedThing obsolete female infertility due to an implantation defect of genetic origin tmpte7i6ely_mondo_relaxed.owl out of scope ICD10:N97.2|Orphanet:400025 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' MONDO:0021124 True owl:Class UMLS:CN206365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719210007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19242006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:442551007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196075003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41069008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73391008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/134520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/194080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0205697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61599003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:440987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020612 biolink:NamedThing obsolete blood group, kidd system tmpte7i6ely_mondo_relaxed.owl Kidd Blood Group System|JK|BLOOD GROUP, KIDD SYSTEM OMIM:111000 True owl:Class https://omim.org/entry/111000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387705004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D029503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:189197001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS168500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4416007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3836857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C135212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703285005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92337009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92660005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044270 biolink:NamedThing obsolete bilirubin, serum level of, quantitative trait locus 1 tmpte7i6ely_mondo_relaxed.owl bilirubin, serum level OF, quantitative trait locus 1|BILIQTL1 OMIM:601816 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/601816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4048549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:370967009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:29207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:400018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363373004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188733003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4011926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715625007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0549423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D060905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0011378 biolink:NamedThing obsolete CFM1 tmpte7i6ely_mondo_relaxed.owl cystic fibrosis, modifier of, 1|meconium ileus in cystic fibrosis, susceptibility to|CFM1 OMIM:603855 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1861 owl:Class https://omim.org/entry/603855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C74984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55382008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN924917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015603 biolink:NamedThing obsolete rare odontal or periodontal disorder tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226712|Orphanet:164001 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C563455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS136520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:331187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614897 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198130006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719397009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237951008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92749008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN072763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109994006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/123155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715644000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:124221007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76107001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:122377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C3808739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0237020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15167005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C103817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/252600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196305005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS104290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:60086000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81780002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2936860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:29227009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414024009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725097006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:439960005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230299004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404055006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015121 biolink:NamedThing obsolete rare eye tumor OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare eye neoplasm MONDO:0021220 Orphanet:101950 UMLS:C0015414 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class http://identifiers.org/medgen/82812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/143500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723556008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62479008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70241007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020186 biolink:NamedThing obsolete eyebrow hypertrophy tmpte7i6ely_mondo_relaxed.owl Orphanet:98596 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class UMLS:C2931058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449829009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10039016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C83009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0404521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23975003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:427999003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:398147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004632 biolink:NamedThing obsolete Hodgkin's granuloma OBSOLETE. An obsolete term referring to Hodgkin lymphoma. tmpte7i6ely_mondo_relaxed.owl Hodgkin's granuloma|Hodgkin's granuloma of unspecified site|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites|Hodgkin granuloma MONDO:0004952 ICDO:9661/3|ICD9:201.2|NCIT:C9357|ICD10:C81|SCTID:118602004|ICD9:201.7|MESH:D006689|ICD10:C81.3|SCTID:118610003|ICD10:C81.9|ICD10:C81.4|SCTID:118609008|ICD10:C81.0|ICD9:201.4|NCIT:C3517|NCIT:C26956|ICD10:C81.2|NCIT:C6913|SCTID:118607005|NCIT:C6914|ICD9:201.1|ICD9:201.0|ICD9:201|ICD9:201.6|ICD9:201.9|DOID:8651 True owl:Class NCIT:C6914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3840223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17827007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN317535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10014316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724226009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718610008 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725418006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty ORPHA:56970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721765009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716649003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020622 biolink:NamedThing obsolete blood group--stoltzfus system tmpte7i6ely_mondo_relaxed.owl BLOOD GROUP--STOLTZFUS SYSTEM|Sf OMIM:111800 True owl:Class https://omim.org/entry/111800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:529468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90036004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050964 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:481771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050458 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:301317008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238733003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84727000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:43 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73975000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402249007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42643001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65455002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN536252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0004610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS167200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:177904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18389004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:429033009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:190749000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:58 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:522077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:122711000119109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404133000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/263540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/206900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1709663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3542024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:488239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702442008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234131004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397734008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:425687007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38606009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204552001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111322000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015710 biolink:NamedThing obsolete immune dysregulation disease with immunodeficiency tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:169361|UMLS:CN200214 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO:0015823 True owl:Class ORPHA:169361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715532007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/251700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237850008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C127170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92559007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111496009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/232200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS137950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0936248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C46008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73465006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48236007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74107003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254167000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419671004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300659 biolink:NamedThing 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ORPHA:1643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276816003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723674005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:84090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:14 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768843007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47099006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/143470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716092007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015890 biolink:NamedThing obsolete rare disorder with congenital hypogonadotropic hypogonadism tmpte7i6ely_mondo_relaxed.owl rare disorder with secondary hypogonadism|rare disorder with hypogonadotropic hypogonadism MONDO:outOfScope Orphanet:181387 UMLS:C0271623 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C531844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90458007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/222748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1319317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254219004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020140 biolink:NamedThing obsolete late-onset ataxia with dementia tmpte7i6ely_mondo_relaxed.owl Orphanet:98540 True owl:Class MESH:C537586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716682000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240151005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126855001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239069005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722282008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367601000119103 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237292005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55475008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52951008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1456248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3245525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254069004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D064068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42711005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16761005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719254001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725079003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35929003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764861005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47004009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237934001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS271640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83799000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:225692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765100000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C78282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718174008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D055623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53132006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715415005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702363009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:281560004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83470009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720863002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81211007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699447001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7522008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044257 biolink:NamedThing obsolete lutheran null OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported. tmpte7i6ely_mondo_relaxed.owl Lutheran null|recessive 50U (A-B-) phenotype OMIM:247420 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/247420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702327009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1561855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719840003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37075008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239031000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63454000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1442927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18377001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717360009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/259050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1300267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723584003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3282904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254582000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92263001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21897009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74320008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39621005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1263882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717225001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21111006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:41 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:544488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720494009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:200824008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57203004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN734570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763135001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015899 biolink:NamedThing obsolete rare primary hyperaldosteronism OBSOLETE. Any of the forms of primary aldosteronism that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare primary aldosteronism|rare Conn syndrome|rare Conn's syndrome MONDO:0001422 Orphanet:181415 ICD10:E26.0|UMLS:C1384514 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0342873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66160001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86103006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1141890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:section biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720826006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126902008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276202003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D065706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:57938005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10008734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720612000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019966 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371405004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4289586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67801009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4289809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/146300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46888001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90584004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763658004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D043183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3163622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238047006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:385482004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732959007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766765009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN231410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS174200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111276 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tmpte7i6ely_mondo_relaxed.owl NCIT:C40230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:572768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766705006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0395863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237891005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:279953009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723163000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C548086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/135500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195182007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188993006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254157005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/314400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:527497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715821000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:362966006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51053007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536668 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/256100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716588005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1134515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722449007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40100001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:279919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D049914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68496003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236443009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721188000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2945558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73284007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020313 biolink:NamedThing obsolete unclassified myelodysplastic/myeloproliferative disease tmpte7i6ely_mondo_relaxed.owl unclassified mixed myelodysplastic/myeloproliferatic syndrome out of scope Orphanet:98825|UMLS:CN207134 MONDO:0020077 True owl:Class ORPHA:98825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7071007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78642008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10006595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764461004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195889001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95208000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763755009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:400025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C155757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51286002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1276140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:742876007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69361009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018403 biolink:NamedThing obsolete female infertility due to an implantation defect tmpte7i6ely_mondo_relaxed.owl rare female infertility due to an implantation defect out of scope Orphanet:399882|ICD10:N97.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' MONDO:0021124 True owl:Class ORPHA:399882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0399440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1631597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254922006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:53316003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35607004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19265001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447292006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0457179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C73511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN028850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267425008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3669395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C579849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444910004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D058922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044258 biolink:NamedThing obsolete methane production tmpte7i6ely_mondo_relaxed.owl methane production OMIM:250650 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/250650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/188890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716094008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2717865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363389001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10056670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C120083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236532003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:439361000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/309900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237602007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1960031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2680446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:157832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254054000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:367460001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/219721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:181387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312514006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618643 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234556002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254820002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1710112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126953009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187192000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715397000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254123002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703267003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:697897003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10012592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61367005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0545080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015078 biolink:NamedThing obsolete gastroenteropancreatic neuroendocrine neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0024503 True owl:Class MESH:C566525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/220111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/248200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MEDDRA:10011762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49584005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718104007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725390002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023663 biolink:NamedThing obsolete macrocephaly mesodermal hamartoma spectrum tmpte7i6ely_mondo_relaxed.owl partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Elattoproteus syndrome|hemihypertrophy and macrocephaly MONDO:0008318 OMIM:176920|GARD:0000170|UMLS:C1867610|MESH:C537716 Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920 True https://rarediseases.info.nih.gov/diseases/170/macrocephaly-mesodermal-hamartoma-spectrum owl:Class https://omim.org/entry/301058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61251 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https://omim.org/entry/617721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74225001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2721741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43959009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7040 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3273067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17541006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14683004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764098007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33806008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS167320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51886007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:108961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0578870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197432008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1112003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49701002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399091004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C153178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000797 biolink:NamedThing obsolete goat milk allergy OBSOLETE. A allergy involving goat milk. tmpte7i6ely_mondo_relaxed.owl allergy of goat dairy food product|goat dairy food product allergic disease|Capra hircus milk allergy MONDO:outOfScope DOID:0060522 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3898222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:76 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:450886002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1135841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128117002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0236642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10069462 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34417008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723819007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36351005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31992008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0086650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203514008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414824005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:468684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:181396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11296007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024624 biolink:NamedThing obsolete atrophy of lacrimal gland OBSOLETE. A degenerative disorder that involves the lacrimal gland. tmpte7i6ely_mondo_relaxed.owl lacrimal gland degenerative disorder|lacrimal atrophy|atrophy of lacrimal gland|degenerative disorder of lacrimal gland UMLS:C0339119|SCTID:91951001 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class SNOMEDCT:91951001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:485405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012610 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73765005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050764 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719843001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7679 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4330009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25147002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63479002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/228400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/112600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0856818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50866000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719404009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72211003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/105805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:198057005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/186575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78494001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92634009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267718000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN069573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733491005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/128230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414545008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0699885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42681006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0178664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193093009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044283 biolink:NamedThing obsolete body mass index quantitative trait locus 18 tmpte7i6ely_mondo_relaxed.owl obesity, susceptibility to|body MASS index quantitative trait locus 18|BMIQ18 OMIM:615457 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719251009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3662272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:402364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254215005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617695 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10058299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204036008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50920009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:387732009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601539 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tmpte7i6ely_mondo_relaxed.owl UMLS:CN204701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254199006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:576370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS130000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52675005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717973004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82458004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2004461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3661988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/pull/2571/ biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11820 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ORPHA:254334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277508009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90241004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:90496008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699659007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007632 biolink:NamedThing obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) tmpte7i6ely_mondo_relaxed.owl fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)|fragile site, Distamycin a type, rare, fra(16)(q22.1)|fragile site 16Q22|FRA16B MONDO:0002399 OMIM:136580 This is not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/136580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126677000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10050185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:714253009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class NCIT:C5185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/271530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS273750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85505000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722285005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240059009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27621000119100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3550904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1996945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10007688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109769000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203592006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016131 biolink:NamedThing obsolete spinal muscular atrophy associated with central nervous system anomaly tmpte7i6ely_mondo_relaxed.owl Orphanet:207012 True owl:Class ORPHA:207012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0039263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:155835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718754008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719011002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719379001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55999004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10044250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:73221001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007821 biolink:NamedThing obsolete immunoglobulin switch sequences tmpte7i6ely_mondo_relaxed.owl Immunoglobulin-independent switch Sequences|S Sequences|immunoglobulin switch sequences out of scope UMLS:C1840234|OMIM:147260 Reason: out of scope. True owl:Class https://omim.org/entry/147260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:56305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4331262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255071008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN244420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:528105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49434001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3714580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080495 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/106220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65539006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4273669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C96413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:220407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:409712001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448954003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721225009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80623000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0098589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:52564001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726346004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2674949 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237911005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28593007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/137600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702447002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239910001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723998001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS188050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D050032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/163955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0162280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126697005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000010.11 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372065009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188287005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3552634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3665425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13596001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/614665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018508 biolink:NamedThing obsolete rare carcinoma of small intestine OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence. tmpte7i6ely_mondo_relaxed.owl rare carcinoma of small bowel|rare small intestine carcinoma MONDO:0005522 Orphanet:423957 UMLS:C0238196 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/228980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49227001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237542005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719652007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48082007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718772002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733072002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398318005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231986000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402587003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:447765004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41309000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126954003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:438075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75667007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718914002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:423709000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0043881 biolink:NamedThing obsolete acute eosinophilic leukemia OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001) tmpte7i6ely_mondo_relaxed.owl eosinophilic leukemia, acute|acute eosinophilic leukemias|leukemia, acute eosinophilic|acute eosinophilic leukemia|leukemias, acute eosinophilic|eosinophilic leukemias, acute MESH:D015472|SCTID:277604002|UMLS:C0023439|EFO:1001888|NCIT:C26813 True owl:Class MESH:D015472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0496828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:mondo/releases/2022-03-01/mondo.owl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0559470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607936 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4727 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363458004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1828221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D066190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000011.10 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37660004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89141000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1443972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277569004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/233810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10037126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49765009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28740008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS619115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254939008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C164226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15258001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28314004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253781004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS234200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/142700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/115300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71787009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410801005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0087012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766752000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86252004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020294 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60876000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46263000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82852009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725415009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715528001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3898125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718681002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/164180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1304226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15307001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70070008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721834007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27614006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49483002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:205681004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:125605004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17608003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3855007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/162240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:25898005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63103006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30292005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717814004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3203657 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:439212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C130043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:94140004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:458422009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238945000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3549845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:266581008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70764005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262587 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3323003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:55881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8262006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:202948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0701818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:77261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C75119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:357502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717827000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0686172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0016178 biolink:NamedThing obsolete peripheral neuropathy associated with monoclonal gammopathy tmpte7i6ely_mondo_relaxed.owl out of scope Orphanet:209010 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: peripheral neuropathy associated with monoclonal gammopathy' MONDO:0016178 True owl:Class UMLS:C2699838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0859920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91855006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764108000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:317473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/306500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566356 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230374002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23606001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238826008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50921008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85649008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719305006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722476007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716696006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240105009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0012557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/209770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:255249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193549003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111232005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:104013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263793 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3179239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51604006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:32960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009641 biolink:NamedThing obsolete mitochondrial complex II deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0100294 Created new class that is child of OMIMPS. 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tmpte7i6ely_mondo_relaxed.owl NCIT:C84745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10813 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448476001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719098007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88854002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/192000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/312840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32916005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:50923006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:30753002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/156500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194348002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/200450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/107480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765489006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238026007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126734005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26374003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5102002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:505248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:700211007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235603003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:732264002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN373594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398838000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/159900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10018767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863922 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:61663001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2315777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:441574008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715980003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56344009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/refseq/NC_000003.12 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763062006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1274310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/170600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618760 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Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). 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tmpte7i6ely_mondo_relaxed.owl DOID:5112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:420566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764990003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763865009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D049288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0015238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class GO:0042910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1320317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/217800 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7826003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:75840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88531004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734023003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1511187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5964004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70065001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:1926006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725035001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN034812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236380004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:102878001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359987004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231532002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363409003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0157698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403923002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92584005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722452004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92050000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN205162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8549006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254864005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0044763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:D010842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22558005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239806000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111499002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722062004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:269221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722061006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS616814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3275160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006967 biolink:NamedThing obsolete septic abortion tmpte7i6ely_mondo_relaxed.owl MESH:D000031|MedDRA:10040056|EFO:1001177 True owl:Class MEDDRA:10040056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/114065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000787 biolink:NamedThing obsolete tomato allergy OBSOLETE. 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tmpte7i6ely_mondo_relaxed.owl MESH:D059228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763069002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231527003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931513 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85478004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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UMLS:C0339273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722132007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255108000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2556008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl MEDDRA:10034623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92197001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/234200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1412037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734066005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/160120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109476006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/254900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449821007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS211400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86348002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719455002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795914 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C169001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:48818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70835005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75875004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1322252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3873357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044284 biolink:NamedThing obsolete blood group, gerbich system OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}). tmpte7i6ely_mondo_relaxed.owl blood group, Gerbich system|GE|Gerbich blood Group system OMIM:616089 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/616089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1854104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:397932003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3267073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19885005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/218030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1387721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/272950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89579000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414022008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10063344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66451004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3276549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26468004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1622427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D045822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721165001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254839007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0745136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37991008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444699000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75544000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721874001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:5 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360495000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3131 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178533 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:271847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0475811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276860003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1706762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766767001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237619009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS605552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0410226 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0015672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:205067002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/239850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448254007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204368006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl NCIT:C40396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720827002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0023174 biolink:NamedThing obsolete follicular lymphoreticuloma tmpte7i6ely_mondo_relaxed.owl GARD:0002357 Editor note: check hodgkin's disease, lymphocyte depletion, reticular True https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma owl:Class UMLS:C0007140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:536545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0015405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238631008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:65959000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1809471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10022694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044248 biolink:NamedThing obsolete thiourea tasting OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}). tmpte7i6ely_mondo_relaxed.owl prop tasting|thiourea tasting|ptc tasting|Phenylthiocarbamide tasting|Propylthiouracil tasting|THIOT OMIM:171200 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/171200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:609143007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402524007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1291463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0269061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0595989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254676008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49049000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:556985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:196286005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10024500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10020614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766238001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47032000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:1489008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0861861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/180050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0546996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715991005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:39963006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618158 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020170 biolink:NamedThing obsolete congenital upper palpebral retraction tmpte7i6ely_mondo_relaxed.owl ICD10:H02.5|Orphanet:98579 Obsolete in Orphanet MONDO:0003382 True owl:Class ORPHA:98579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1282500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43153006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234422006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1512508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404025004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0156045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:300916003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050823 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C543241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230502003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/221810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722435003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69093006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240796008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45020000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/100100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:324262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:271844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763529005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:220460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:447753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0877055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126678005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85638002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:406619001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197357 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:307219002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238883003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:528091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859761 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:33402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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MESH:D003919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:738526005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343952 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7983 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1844933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724091002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3696898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000606 biolink:NamedThing obsolete gluten allergy OBSOLETE. A allergy involving gluten. tmpte7i6ely_mondo_relaxed.owl gluten allergic reaction|gluten allergic disease|allergy to gluten|allergy of gluten MONDO:outOfScope DOID:0060057 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1135993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2674249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:414285001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/201400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015917 biolink:NamedThing obsolete malignant glioma tmpte7i6ely_mondo_relaxed.owl MONDO:0100342 Moved Orphanet equiv dbxref to parent class (glioma). Therefore obsoleted this term and created a new term that is not equiv to Orphanet:182067. True https://github.com/monarch-initiative/mondo/issues/2932 owl:Class UMLS:C2931470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859806 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027253 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239056006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410494003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0687154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/108980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842466 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018987 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563067 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126824007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS121200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:50839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:448264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399948007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720850008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:394727000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4923 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024228 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0949804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:448270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS166800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:734990008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0473574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35614 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:445436005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/224750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312591002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715828006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751606 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314994000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3695127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231924000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719267003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93971 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:103909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10007009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1302999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:399853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254221009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715418007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237611007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3751 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:66 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl UMLS:C1860616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40158001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C12333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C580439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0269972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:413924001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722108000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68067009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/212090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl DOID:1929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/303600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN842246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36696005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66191007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69550000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67761004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254872007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/276901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608904 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723097009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:713306000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10009835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0045021 biolink:NamedThing obsolete sucrose intolerance disease tmpte7i6ely_mondo_relaxed.owl sucrose intolerance SCTID:190753003|ICD9:271.3 See https://github.com/monarch-initiative/mondo/issues/886 MONDO:0009114 True owl:Class SNOMEDCT:190753003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10067287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128192007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0948368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1367861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:330041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:312428002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234451005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717187000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0028968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234532001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724840004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186973005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C67006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565323 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403939009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0032633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1299239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716722005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/138920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278050001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:412035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724136006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:505242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1305924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:500150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715803003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1278821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255154009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410058007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS606176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0279609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019014 biolink:NamedThing obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques tmpte7i6ely_mondo_relaxed.owl MONDO:0100296 Split this term to create new OMIMPS and child. True https://github.com/monarch-initiative/mondo/issues/2758 owl:Class https://omim.org/entry/619009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:35742006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2372 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:443416007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721075001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:10624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/618612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10004941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:398040009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN184630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254122007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721311006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675512 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16459000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0396072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76880004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:309465005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239050000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733451007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763310000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:110006004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2960113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0022448 biolink:NamedThing obsolete amyoplasia mandibulofacial dysostosis tmpte7i6ely_mondo_relaxed.owl GARD:0000660 True https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis owl:Class NCIT:C5271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765135003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10003094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720983002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:310701003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:27 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3172 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:54251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1306574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0079748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl UMLS:C0012554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:353344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10010656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:22754005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277623009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005591 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tmpte7i6ely_mondo_relaxed.owl NCIT:C9368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2111671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C542540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6068 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612011 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl ORPHA:96176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/606545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:36386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78868004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0730328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000779 biolink:NamedThing obsolete apple allergy OBSOLETE. A allergy involving a Malus domestica. tmpte7i6ely_mondo_relaxed.owl Malus domestica fruit allergy|allergy of Malus domestica|Malus domestica allergic disease|Malus domestica caused allergic disease MONDO:outOfScope DOID:0060504 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10052369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237818003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0236663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33548005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:26793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234468009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403969002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:48180002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:413603009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C122659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:80544005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:396347007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1864791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:365258000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400178008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:91612009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8051000119105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/261750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19161004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044269 biolink:NamedThing obsolete novelty seeking personality trait OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related. tmpte7i6ely_mondo_relaxed.owl novelty seeking personality trait|risk-taking behavior OMIM:601696 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/601696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:711412004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/171000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238687000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS612900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603956 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:280302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217566 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78468005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D063926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765045003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33662006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1384666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:290849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C162611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0220993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009116 biolink:NamedThing obsolete lactose intolerance tmpte7i6ely_mondo_relaxed.owl obsolete lactose intolerance (disease) obsolete lactose intolerance (disease) MONDO:0100345 True https://github.com/monarch-initiative/mondo/issues/2949 owl:Class UMLS:C0158619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0033845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203928008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN252651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221392 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717257000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10009269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050951 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13600006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611944 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111354 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763276000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600268 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721974000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718128009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C118763 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS164310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:163699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237821001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7426009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715673002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537192 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19829001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/120500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:208978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009531 biolink:NamedThing obsolete lip prints tmpte7i6ely_mondo_relaxed.owl lip prints OMIM:247150 True owl:Class https://omim.org/entry/247150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126895004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3808981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6483008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47344007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:15 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D036841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67434000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/176700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1415005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206669 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN536248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0524620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536861 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2626 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:419193008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2748554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110740 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:181415 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/225320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014736 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10026891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C95880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS187300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10023484 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18193002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238011005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0024384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:D020181 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231504006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10025325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111311 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715950008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/132450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64779008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:85653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/615500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN031421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9036 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:446887007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26867 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C111694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718850008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721235003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:457074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:356978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240104008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/267480 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0043388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5828 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3152055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:68341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/185070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:404584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10015560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/268210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C133730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:293150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399029005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11406 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72007001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/305550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3636 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1685005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010262 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:182108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763867001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/175780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044274 biolink:NamedThing obsolete hemoglobin, high altitude adaptation OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}). tmpte7i6ely_mondo_relaxed.owl Hemoglobin, high oxygen saturation of|HEMOGLOBIN, high altitude adaptation|HALAH OMIM:609070 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/609070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:277664004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011648 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304020 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726610000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309836 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:76169001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:116381000119105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017970 biolink:NamedThing obsolete 46,XY disorder of sex development due to impaired androgen production tmpte7i6ely_mondo_relaxed.owl 46,XY DSD due to impaired androgen production out of scope Orphanet:325357|UMLS:CN227233 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO:0017969 True owl:Class https://omim.org/entry/271620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS212065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720757001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:278052009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726349006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764850002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11938002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718847005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235746007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719454003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1563715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166478 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/101400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535603 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0001679 biolink:NamedThing obsolete crater-like holes of optic disc tmpte7i6ely_mondo_relaxed.owl crater-like optic disc holes DOID:13295|ICD9:377.22 Obsolete as represents a phenotypic feature/finding (todo: add to HPO) True owl:Class DOID:13295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399970005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1370889 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2930792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2955 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763311001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:271432005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519869 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26445008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN800195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764734003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234628004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9503 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9469 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10061418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/109300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:177107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203357004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:88629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605808 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839927 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN187045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18901009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057589 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85901000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15084002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:41308008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050117 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611555 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238081000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764997000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C000598640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C92632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:496924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3651 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2675857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21426000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C42086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1831619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2939445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126634001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10062906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/304030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721007005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3274488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49455004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/266255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720569006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60380001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:274096000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:300913006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618534 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:448990005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2151 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254180002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/242890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204833 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:360378009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/211120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:768553002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C93210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720635002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038644 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D036982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267532001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0475271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201163007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:424053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050898 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38362002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601165 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/235500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:247182006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194350005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234446004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111310003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/103780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717255008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240842000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187681002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72776003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003044 biolink:NamedThing obsolete extraosseous chondrosarcoma OBSOLETE. A chondrosarcoma that is located in exclusively soft tissue. tmpte7i6ely_mondo_relaxed.owl DOID:4549 NCIt recommended obsoletion. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class DOID:4549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60192008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2674219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/258865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN032818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3755001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:86133004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2912 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111550 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0376300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:37705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class SNOMEDCT:11772001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0854917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1285186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:5364006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537797 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS109730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4540345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72991005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:37559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363433009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:297009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D050379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03420279 biolink:NamedThing obsolete: pollen tmpte7i6ely_mondo_relaxed.owl True owl:Class PO:0025281 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82304009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15182000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:313947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:94080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5153 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703219008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:232016005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D030341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060911 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0003742 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:78 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCBITaxon:11571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class https://omim.org/entry/612132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10206 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1510437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537548 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/215700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020642 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:213837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:413427002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72274001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0267613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766051001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:169443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310792 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4512018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0031065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68982002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/210200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33647009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616483 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN238505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:233873004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D057826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7340 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tmpte7i6ely_mondo_relaxed.owl ORPHA:280071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89647000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:765047006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3179349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267601009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:26360005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0600327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300114 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:51995000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/424500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535794 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92085000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204702 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017495 biolink:NamedThing obsolete congenital absence of upper arm and forearm with hand present, bilateral tmpte7i6ely_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia, bilateral ICD10:Q71.1|Orphanet:295087|ICD10:Q71.13 Obsolete in Orphanet MONDO:0017441 True owl:Class ORPHA:295087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:2435008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10027139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/143000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716712004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044261 biolink:NamedThing obsolete menoq1 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tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617977 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1327916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2939174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721878003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100035 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35094 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616843 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/150900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613954 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153934 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82473003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:46804001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN158709 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402721001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:502423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/202110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D059347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5265 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0151731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3924 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359721009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226833 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604916 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261821 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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https://omim.org/entry/611553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19341001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615937 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518739 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721087008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295065 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:521450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537903 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227858 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/125851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724649000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63702009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/400044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/303110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:459353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:8793008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240524001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722002002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C37312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0587248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10813004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55444004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:137929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0276138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020626 biolink:NamedThing obsolete yt blood group antigen tmpte7i6ely_mondo_relaxed.owl Cartwright Antigen|YT BLOOD GROUP ANTIGEN OMIM:112100 True owl:Class https://omim.org/entry/112100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:55551005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1456781 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193995004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020497 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:726355001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206886 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92539008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563663 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614090 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:416878008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850081 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1968846 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1704251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155069 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015838 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:102010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716200002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0040086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564942 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/153630 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:252006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230248006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015405 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8956 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tmpte7i6ely_mondo_relaxed.owl MESH:C564013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699313003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/575892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0005750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110167 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200364 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720514008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014605 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:89840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:130 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619615 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0006261 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class MESH:C535659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009995 biolink:NamedThing obsolete rheumatic fever-related antigen tmpte7i6ely_mondo_relaxed.owl rheumatic fever, acute, 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188274004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289860 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017241 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:371521007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0275859 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D049290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40272001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617388 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/124700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:52417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110960 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716180009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1514430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:445197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563649 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702433001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:766721001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809853 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1275336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:21893008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/179500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192915005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1836447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1279621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601812 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:46059 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600373 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52179003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C82429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C136410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C126866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715794009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719650004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231827008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/207620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:734 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724540009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5297 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:54368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C557817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000681.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564298 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN776887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C116007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79324 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0014763 biolink:NamedThing obsolete Bombay phenotype tmpte7i6ely_mondo_relaxed.owl Reunion variant|para-Bombay phenotype out of scope OMIM:616754 True https://github.com/monarch-initiative/mondo/issues/2942 owl:Class https://omim.org/entry/616754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0949506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:56965 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004675 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:415112005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/311100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:319539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13313 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79395 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611031 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406704 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536744 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/264050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721573003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99021 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:285432005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371442 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/230750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/181270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/medgen/57754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0019348 biolink:NamedThing obsolete Ehlers-Danlos syndrome with periventricular heterotopia OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva. tmpte7i6ely_mondo_relaxed.owl EDS with periventricular heterotopia SCTID:720857006|Orphanet:82004|ICD10:Q79.6|UMLS:C4303790 Obsolete in Orphanet MONDO:0020341 True owl:Class UMLS:C4303790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:64009001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8189 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C97119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10899004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203927003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10066022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS183600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2665 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607572 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0035352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:87 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1516427 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111019 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:209041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:129639005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720427009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:480524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613144 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71464000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C83010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4682 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:410041002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:320 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0029051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111083 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535707 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109475005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050632 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4305529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:139402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:62767009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10001461 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:191483003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84004001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535855 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719164000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007984 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148325 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92087008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/216330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:20721001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3468005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239826001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563052 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84089009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92549006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335980 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50721 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860822 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/278700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10065039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/275300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:19065005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14546 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050934 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060879 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206701 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24752008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610508 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:66383009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C131504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:69244009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1707437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:0110191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0392788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1112746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334825 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84532 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242787 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563835 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10049786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8997 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004393 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/303900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197983000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201460 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0037072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:117573 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838653 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/213010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:1534008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036832 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3745 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019958 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1368888 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C60672 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308459 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017562 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4541 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0004391 biolink:NamedThing obsolete adult extraosseous chondrosarcoma OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult. tmpte7i6ely_mondo_relaxed.owl extraosseous chondrosarcoma of adults DOID:7902 NCIt recommended obsoletion of the parent class. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class DOID:7902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676272 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0580190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014594 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:276436007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719974003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12641 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363354003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4430 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230449001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:82523003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1855453 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1252 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9775 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN243982 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003316 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614343 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31166000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31681005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2745963 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1969799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0345891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4014939 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0009651 biolink:NamedThing obsolete pseudo-Hurler polydystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0018931 True owl:Class UMLS:C0006060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716704007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4231 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34149 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567474 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4075 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111379 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111204 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:27742002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151136 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238874008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/118800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060743 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4855003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:17818006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:449432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199502 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10041524 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617290 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10011692 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/302803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563412 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35024 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C83504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C61283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:34630004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1710096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126635000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS147950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:79665007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0001247 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085413 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3149841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1658 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS301050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567339 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13816006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26934 biolink:NamedThing 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Epstein-Barr Virus integration site|Epstein-Barr virus insertion site 1|Epstein-Barr VIRUS insertion site 1|EBVS1|Epstein-Barr Virus insertion site type 1 OMIM:132850 Not a disease but a genomic locus. 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NCIT:C3493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11824 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722763000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3149074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300967 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:195990006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0751791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536463 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/insdc/CM000672.2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:187014000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10013003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225381 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5728 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334380 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833809 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613062 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193531003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0015938 biolink:NamedThing obsolete systemic disease tmpte7i6ely_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class https://github.com/monarch-initiative/mondo/issues/3596 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722380003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280355 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:598363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/170900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS267700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432197 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254782003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28244003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C147530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716387004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5818 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1862842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724229002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84627005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0339296 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716741008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310722 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719949001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C113168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN228623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52781008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/205200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000567 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7224 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/500010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:70593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2456 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110490 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38513001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92503002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720749004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:13468005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/177300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003161 biolink:NamedThing obsolete benign ependymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016698 True owl:Class UMLS:C0085435 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:238624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617054 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5438 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:67037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85708001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853278 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619425 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:428054006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617993 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10074765 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304504 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D062688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:40178009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2044 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536878 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126538005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249210 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:402624000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304037 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84624 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1847691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200488 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:262887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6595 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:56787009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:702416008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:188732008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858154 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1910 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D015521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0008677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717334008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26796 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0685941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406515 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565738 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268135 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1517127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:697970009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:189130001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN043677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044240 biolink:NamedThing obsolete musical perfect pitch OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}). tmpte7i6ely_mondo_relaxed.owl musical perfect pitch|absolute pitch OMIM:159300 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610542 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:444 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10054895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:28724005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449420002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0553576 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:15771000119109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0034183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718615003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715768000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566612 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720416007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0242645 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:31205 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237252008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6634 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237940008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1292753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332994 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2673885 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832112 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080214 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:23585005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090032 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3539506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:466962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:38101003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080269 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C114688 biolink:NamedThing 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:267619000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021196 biolink:NamedThing obsolete disease by molecular activity disrupted tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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MESH:C535633 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720495005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C142085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227635 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796076 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341299 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553249 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0038557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333992 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206950 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:276145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2508 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl MESH:D020788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5537 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332907 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000753 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537689 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53583 biolink:NamedThing 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UMLS:C4303479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:156230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9315 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:557 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1708604 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/255310 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:440422002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85078 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002282 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tmpte7i6ely_mondo_relaxed.owl DOID:11816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0949570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C54293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1209 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C38110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37785001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060331 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35731 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C124505 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:703298001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0393720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18927009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:128351009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN757793 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080134 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140477 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563436 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7184 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:268940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84785 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:34516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:441313008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300848 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64686 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616873 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080085 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614213 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/238600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31658008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1865974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/193000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725463007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:52506002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:388604008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84457 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:464336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1837028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0018040 biolink:NamedThing obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells tmpte7i6ely_mondo_relaxed.owl Orphanet:331240 This is a grouping class from Orphanet that only had a single child, and was undefined. MONDO:0003947 True https://github.com/monarch-initiative/mondo/issues/1667 owl:Class UMLS:C0022104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/154400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0000790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class UMLS:C1519918 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2745948 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:429233001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72893007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0270909 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3272790 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1838123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:183666 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609148 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1970827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1867770 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:33076008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7916009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83586000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0021051 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C79598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699316006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0010403 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060730 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:284811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:155899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C129027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1337012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95531001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D054549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0020506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725142004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:234627009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566585 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2348199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92211008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C117312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:109385007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3281235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:134209002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31848007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615344 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677481 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060678 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537552 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238330 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199216 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006042 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/158030 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152223 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715801001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724642009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009386 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:370396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN239258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254170001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614920 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0278754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:235602008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007638 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:526 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050530 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:90362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563759 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0017541 biolink:NamedThing obsolete central polydactyly of toes, unilateral tmpte7i6ely_mondo_relaxed.owl mesoaxial polydactyly of toes, unilateral|mirror foot, unilateral ICD10:Q69.2|Orphanet:295183 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295183 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10028913 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2752008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0862312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619217 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:18241005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:442917000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9166 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85598007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300434 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236467001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1860212 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3888385 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715798007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C115207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3279708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0280141 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359717002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616127 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74851005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3536893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C119058 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842025 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0272202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013118 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/223350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS617711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610551 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4518327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl GO:0005720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl True owl:Class DOID:3857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:42930003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110257 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1843758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9312 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10043391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151590 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/203650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:54898003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128337 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:189179009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080309 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717264003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:716699004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1333027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1829703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3820 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4766 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10017 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1855304 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231826004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1963946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0235270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334419 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3391 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl FOODON:03420310 biolink:NamedThing obsolete: stamen tmpte7i6ely_mondo_relaxed.owl True owl:Class PO:0009029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050465 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720814001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:289499 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203255 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:7046009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763669001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83223005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030327 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:444545003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4020703 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226185 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10071575 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/190351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155088 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1515308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050579 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2251 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721873007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835928 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044229 biolink:NamedThing obsolete epiblepharon of lower 51d tmpte7i6ely_mondo_relaxed.owl epiblepharon of lower lid OMIM:131450 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/131450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208050 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:6374002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7168 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10068448 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044975 biolink:NamedThing obsolete disease of transporter activity tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:33793000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008064 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:264207005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN074234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:95413004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403435005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060795 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS124900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:85750001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206623 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013238 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536163 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0024205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN225973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93948004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:240221008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0346601 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2986622 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:396230008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3374 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1833170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0338418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10002654 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10042900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3806670 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:733608000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:75331009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230306001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:71436005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:161 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239889005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1202 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10016080 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93145002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277470 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565782 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604201 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254435009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:264757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0677865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:93419003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:411777 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:391408 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7602 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79493 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538225 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1096116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849439 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/226500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850362 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0347285 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719810000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C127171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0011876 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/102400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001528 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3571 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3314 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1331544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:231477003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538539 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/121850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87614000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562999 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0013264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1721016 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/167220 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602553 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715401008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006177 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87343002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:44057004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:439732004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS243180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0042164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677491 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111514006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:458432002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3554145 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0795940 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tmpte7i6ely_mondo_relaxed.owl UMLS:C1333070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10041329 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536625 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1852581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93556 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4011725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352447 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl NCIT:C3240 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2856 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:364817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715140008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295028 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:699305004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180071 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7826 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl IAO:0000116 biolink:NamedThing editor note An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology. tmpte7i6ely_mondo_relaxed.owl GROUP:OBI: editor note PERSON:Daniel Schober owl:AnnotationProperty NCIT:C36205 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0796066 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008048 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227564 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307804 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029322 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9147 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600383 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717766000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6844 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750467 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:371188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9207 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:100045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:201015007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99022 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/240900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9306 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253231007 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050718 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601358 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0040964 biolink:NamedThing obsolete superimposed infection tmpte7i6ely_mondo_relaxed.owl superadded infection|superimposed infection|suprainfection SCTID:193198003|UMLS:C0038826 True owl:Class SNOMEDCT:193198003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4015119 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:239918008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866176 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861714 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1859519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl UMLS:C4273969 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3809288 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/307700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0021195 biolink:NamedThing obsolete disease by cellular process disrupted tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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MESH:C564880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10051445 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:352487 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/127300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98989 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D013613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004422 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4883 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85193 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:494418 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10064584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:363443007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:431361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227335 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D052496 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2156 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:717761005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:722004001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535588 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567245 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/270805 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47158003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/165680 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4618 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613767 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479431 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:64694 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/301010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566293 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4310757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060848 biolink:NamedThing 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ORPHA:254892 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1979 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:519384 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C148259 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98683 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0027830 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:230591002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617807 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0153219 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9359 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:60342002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050959 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617713 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3416 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615348 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399088004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020817 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14270 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609129 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535837 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:1218 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617091 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1840529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D056732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84620 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403772000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334631 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35139 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/173100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1839368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4254 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1861862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/189800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000069544 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1159 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403982005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D031941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:363976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0403810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1332933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2841 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563341 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:140976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566235 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334532 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl NCIT:C6437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2215 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:178509 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060760 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003057 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1260915 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206455 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10030043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026896 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/604536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335152 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4685 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255015006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/229120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002095 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12527 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:930 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0006123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2104 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1834671 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720825005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/136400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1647 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6432 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN236661 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D053489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565726 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3280953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080188 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/227010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83405000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C28137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4510276 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1627 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl DOID:5776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/257350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:435387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0878677 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3553409 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS224690 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615919 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D009102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10059396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1290872 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:193687000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564475 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0543514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:306762 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95712 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:275598004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:78537008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:231568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/dosumis/dead_simple_owl_design_patterns/ biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537611 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/603563 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:449783002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263494 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:754 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:329258 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:177101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3642326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1510791 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057621 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4839005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C46105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3598 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1449 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN219009 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24225004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4267 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060755 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:43152001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070043 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200547 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:314270008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:35125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:723995003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9305 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1335110 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206941 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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UMLS:C0400972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:96060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13404 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:89188001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2852 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110974 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155178 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2678472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C562659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0432221 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0019342 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86884 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl ORPHA:894 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0007947 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:310605004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN199975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C40233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:477831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226708 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:396 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537287 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D008382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/601001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10019143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34417 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84985 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050535 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150752 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0044278 biolink:NamedThing obsolete short sleeper OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset. tmpte7i6ely_mondo_relaxed.owl short sleeper|short sleep phenotype OMIMPS:612975 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/phenotypicSeries/PS612975 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615010 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:81208006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/250940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610443 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:67685000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2338 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0041307 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D002349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1842531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003291 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84684 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:49436004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3839613 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C132827 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:181437 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2863 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/148840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:45855004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227652 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0271568 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0282609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614520 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9164 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004803 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:177929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565639 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149517 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS100070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:126971002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10072361 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238032002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4389 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2750798 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613819 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619146 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:300319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83597 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D024741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617321 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9368 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3711 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615271 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:79280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018301 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0263518 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84748 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204780 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C72074 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:31537005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3531 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:506334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243450 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10033366 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10070440 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1858308 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:14852000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D004899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27452 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:37283009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007169 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0009769 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2034 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2768 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D003616 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:764097002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0398367 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535857 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295026 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237790001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4304577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/187260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4303569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204877 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:12301009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:7046 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/145350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:166472 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/151700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:255111004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2893 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/182800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:451607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1160 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253159001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300498 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59277005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C62578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:295187 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4479376 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607801 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0014378 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050554 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0395849 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:399252000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:112 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/277720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:68913001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261771 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10048816 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:715371006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN227191 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536211 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:16 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060698 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:404052009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3706 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:261190 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:307061 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C87125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/602561 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:504523 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C101328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3093 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:399 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123814 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612917 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2222 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN206788 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:16517004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080277 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:3331000119108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0409676 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:314946 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:401854 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:86864 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619053 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8233 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:158687 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C53970 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN237674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:687 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:302855005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564170 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D016776 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1841640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35033 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN036105 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4084840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615266 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:206976 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3725 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2931008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:263501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C123260 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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https://omim.org/entry/613810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4674 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:207049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012133 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/116200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0206586 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/244400 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614401 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:724999003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334246 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35516 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3812899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:720430002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5464 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:84399007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/208750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99811 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C128334 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:236412002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2747 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72620002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060109 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614195 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:253604004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:29073 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225667 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1850840 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200350 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846529 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8476 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS617186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10029773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98881 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2749137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:70173007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C50778 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8377 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:254746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:71289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/243500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0090027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0268155 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1849779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C98968 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10519 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:92069005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207056 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535302 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:203467005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/249420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:83901003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:88233000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8420 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1866423 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0340038 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1876182 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:14175 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2921 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2326 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:168943 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0809935 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519485 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4531264 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080536 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7138 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334363 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538229 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014842 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080086 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85199 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C84882 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34773 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111346 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2332 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538351 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:47000000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4340003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:4320005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0025295 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:180779 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1857802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87605005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C94829 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4084 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:24129002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0406756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/612079 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:63862 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0341106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0013617 biolink:NamedThing obsolete overgrowth-macrocephaly-facial dysmorphism syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0013357 OMIM:614192 True 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:36799008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017243 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0036489 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:222628 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4274424 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:247522 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26998 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1519933 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9347 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0040414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:10932 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34799 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5465 biolink:NamedThing 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tmpte7i6ely_mondo_relaxed.owl UMLS:C1836284 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1334646 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565411 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536049 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:74797001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6619 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:403824007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566345 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:85328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:5660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:47045 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C121198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:217560 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537283 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0265286 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/605845 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9328 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6387 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053242 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0149870 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:53691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615390 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0030486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567580 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3926 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D000741 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3887525 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535774 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/300700 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133540 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:72925005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/616868 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34802 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:591 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:60015 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C85006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:400951005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/129200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0343398 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1518746 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0023055 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:97353 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8659 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C6371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537047 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0003667 biolink:NamedThing obsolete spermatocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020513 True owl:Class UMLS:C1850317 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:656 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:11772 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0152198 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611953 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0026143 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C537196 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C34850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:127041004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98978 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/610655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98981 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C168758 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567507 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1291609 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3165203 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C2991 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1336901 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/214500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/611162 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613834 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:721232000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012173 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C35002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4810 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5275 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D006973 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050961 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:117569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D007945 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/130070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:237662005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1851549 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1863691 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254730000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3695063 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D017545 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9336 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614617 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:98729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202468 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D011697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0238013 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:83451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5473 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C535607 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002171 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151060 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538232 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1845717 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:186803007 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:63302006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567471 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0110451 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:308655 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93592 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0017925 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/133600 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070186 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:6263 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/169150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C27872 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536650 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:228360 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614696 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4511137 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566492 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:99732 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564421 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614875 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:10743008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN197382 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0085697 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4275012 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D001715 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619510 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:101957 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0281479 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3410 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0050608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0000786 biolink:NamedThing obsolete plum allergy OBSOLETE. A allergy involving a Prunus domestica. tmpte7i6ely_mondo_relaxed.owl Prunus domestica allergic disease|allergy of Prunus domestica|Prunus domestica fruit allergy|Prunus domestica caused allergic disease MONDO:outOfScope DOID:0060511 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060511 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2677500 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225208 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C130988 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204279 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN204280 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0010804 biolink:NamedThing obsolete BRCATA tmpte7i6ely_mondo_relaxed.owl breast cancer, 11-22 translocation-associated|moved to 114480|BRCATA OMIM:600048|Orphanet:227535 MONDO:0016419 True 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tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/166705 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0002757 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566446 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617370 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:11010461000119101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/618906 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060578 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1835087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600318 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567688 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012282 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1072 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D010899 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:13629 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:141333 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0221239 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2394 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C125599 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868256 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:718751000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN202414 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080087 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:719972004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/192300 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617660 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:87607002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D020227 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:51608 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:238731001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/168000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:111584000 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN242194 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C43558 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10057429 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/613729 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1853100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3931 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0264248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751289 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0018023 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:763622006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN226972 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201839 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0262584 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:189151003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:95428 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C536908 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/609637 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070132 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:9749 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D014120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:77 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:1433 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/147891 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:194281003 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566140 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93274 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0022593 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0080349 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538375 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203402 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/614750 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3150880 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:443070 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060273 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C8986 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615789 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0016089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D019871 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C39990 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060851 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2676786 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D012719 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1266092 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0158996 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/617397 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C7506 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:372100004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:91352 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C9077 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1868569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0007678 biolink:NamedThing obsolete glycoprotein, renal tmpte7i6ely_mondo_relaxed.owl glycoprotein, renal OMIM:138710 This is an electrophetic finding and not a disease. True https://github.com/monarch-initiative/mondo/issues/2245 owl:Class https://omim.org/entry/138710 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619234 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C538142 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C3962 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1846174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565716 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C531673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:2089 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/119570 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4076724 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:32398004 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C71720 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0342784 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:197579006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0155303 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN201128 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563938 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/619565 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN200482 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C36082 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0111583 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C567486 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0349582 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:725287006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10053865 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C566501 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/607847 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C4874 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:498700 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biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8681 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060783 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334574 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:171895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C563831 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0259800 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:93454 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3756 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:3041 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:423662 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/172150 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C2751319 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1856929 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C4225292 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/608029 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C157569 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3151039 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:4995 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0154723 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS618005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/236900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C26890 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251940 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C565664 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070116 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MONDO:0020615 biolink:NamedThing obsolete blood group system, landsteiner-wiener tmpte7i6ely_mondo_relaxed.owl BLOOD GROUP SYSTEM, LANDSTEINER-WIENER|LW|Landsteiner-Wiener Blood Group System OMIM:111250 True owl:Class https://omim.org/entry/111250 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl 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tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:359804008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C41248 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:254957009 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3890737 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3230 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0334426 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:309111 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C0266521 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12895 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:12514 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:69735 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5157 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1848902 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D005693 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN203866 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl OBO:exo#interacts_with_an_exposure_stressor_via biolink:NamedThing interacts_with_an_exposure stressor_via tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#has_onset_during_or_after biolink:NamedThing has_onset_during_or_after tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0001108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000125 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_not_completed biolink:NamedThing has_not_completed tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_has_basis_in_development_of biolink:NamedThing disease_has_basis_in_development_of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:layer_part_of biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000098 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000057 biolink:NamedThing has participant at some time tmpte7i6ely_mondo_relaxed.owl BFO_0000057|BFO_0000057 BFO_0000057s|BFO_0000057s BFO_0000057ed|BFO_0000057ed owl:ObjectProperty BSPO:0000126 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty FOODON:00001301 biolink:NamedThing has food substance analog tmpte7i6ely_mondo_relaxed.owl owl:SymmetricProperty UBERON_CORE:subdivision_of biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000122 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:site_of biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_responds_to biolink:NamedThing disease responds to tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:channel_for biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000099 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0001106 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_enantiomer_of biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#part_of_progression_of_disease biolink:NamedThing part of progression of disease tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:anteriorly_connected_to biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:pato#reciprocal_of biolink:NamedThing reciprocal_of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e.|q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty RO:0002218 biolink:NamedThing obsolete has active participant x has participant y if and only if x realizes some active role that inheres in y|x has participant y if and only if x realizes some active role that inheres in y tmpte7i6ely_mondo_relaxed.owl True owl:ObjectProperty OBO:chebi#has_parent_hydride biolink:NamedThing has parent hydride tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#has_functional_parent biolink:NamedThing has functional parent tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_causes_feature biolink:NamedThing disease causes feature tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000108 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_tautomer_of biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:TransitiveProperty BFO:0000167 biolink:NamedThing has participant at all times tmpte7i6ely_mondo_relaxed.owl BFO_0000167|BFO_0000167 BFO_0000167s|BFO_0000167s BFO_0000167ed|BFO_0000167ed owl:ObjectProperty BSPO:0001113 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0001107 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:exo#interacts_with_an_exposure_receptor_via biolink:NamedThing interacts_with_an_exposure_receptor_via tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0015014 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0015101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000097 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:conduit_for biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:cl#lacks_part biolink:NamedThing lacks_part tmpte7i6ely_mondo_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y owl:ObjectProperty UBERON_CORE:posteriorly_connected_to biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:exo#interacts_with biolink:NamedThing interacts_with tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:filtered_through biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty has_onset biolink:NamedThing has onset tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000124 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:sexually_homologous_to biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0001115 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#has_onset_before biolink:NamedThing has_onset_before tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty disease_triggers biolink:NamedThing disease triggers tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0015102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000102 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty predisposes_towards biolink:NamedThing predisposes towards tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty ENVO:01001307 biolink:NamedThing partially_surrounded_by x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x|x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:extends_fibers_into biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_completed biolink:NamedThing has_completed tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:proximally_connected_to biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:cl#lacks_plasma_membrane_part biolink:NamedThing lacks_plasma_membrane_part tmpte7i6ely_mondo_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y) owl:ObjectProperty UBERON_CORE:channels_from biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_shares_features_of biolink:NamedThing disease shares features of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0005001 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:envo#has_increased_levels_of biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000100 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:nbo#by_means biolink:NamedThing by_means tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000123 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:distally_connected_to biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:synapsed_by biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:pato#has_cross_section biolink:NamedThing has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.|s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000120 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000121 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_has_basis_in_accumulation_of biolink:NamedThing disease has basis in accumulation of tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0000096 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:protects biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BSPO:0001101 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty BFO:0000052 biolink:NamedThing inheres in at all times tmpte7i6ely_mondo_relaxed.owl BFO_0000052|BFO_0000052 BFO_0000052s|BFO_0000052s BFO_0000052ed|BFO_0000052ed owl:ObjectProperty MAXO:0000864 biolink:NamedThing therapeutic uses Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual.|Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual. tmpte7i6ely_mondo_relaxed.owl pharmocological uses|drug uses owl:ObjectProperty OBO:chebi#is_substituent_group_from biolink:NamedThing is substituent group from tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:channels_into biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:ObjectProperty MONDO:0001058 biolink:NamedThing obsolete gastric fundus cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0004950 True owl:Class MONDO:0020255 biolink:NamedThing obsolete oculomotor palsy tmpte7i6ely_mondo_relaxed.owl MONDO:0001309 True owl:Class MONDO:0024390 biolink:NamedThing obsolete actinomycotic infectious disease tmpte7i6ely_mondo_relaxed.owl MONDO:0006921 True owl:Class MONDO:0006703 biolink:NamedThing obsolete chronic interstitial cystitis tmpte7i6ely_mondo_relaxed.owl MONDO:0018301 True owl:Class MONDO:0003814 biolink:NamedThing obsolete gastric diffuse adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005017 True owl:Class MONDO:0004097 biolink:NamedThing obsolete lipid-rich breast carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0021090 True owl:Class MONDO:0016074 biolink:NamedThing obsolete fibrosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005164 True owl:Class MONDO:0026782 biolink:NamedThing obsolete chondrodysplasia punctata 2, X-linked dominant tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0020603 True https://github.com/monarch-initiative/mondo/issues/3906 owl:Class MONDO:0001010 biolink:NamedThing obsolete natural killer cell leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019470 True owl:Class MONDO:0006251 biolink:NamedThing obsolete inclusion body fibromatosis tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0016039 True https://github.com/monarch-initiative/mondo/issues/4093 owl:Class MONDO:0018012 biolink:NamedThing obsolete tetanus tmpte7i6ely_mondo_relaxed.owl MONDO:0005526 True owl:Class MONDO:0008550 biolink:NamedThing obsolete thoracolaryngopelvic dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0008551 True owl:Class MONDO:0006443 biolink:NamedThing obsolete tenosynovial giant cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0002522 True owl:Class MONDO:0003259 biolink:NamedThing obsolete melioidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017775 True owl:Class MONDO:0003642 biolink:NamedThing obsolete oral submucous fibrosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018166 True owl:Class MONDO:0006072 biolink:NamedThing obsolete adenoid cystic breast carcinoma OBSOLETE. An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. tmpte7i6ely_mondo_relaxed.owl MONDO:0003185 True owl:Class MONDO:0001891 biolink:NamedThing obsolete malignant anus melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006081 True owl:Class MONDO:0000043 biolink:NamedThing obsolete hypomagnesemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018100 True owl:Class GO:0044421 biolink:NamedThing obsolete extracellular region part OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. tmpte7i6ely_mondo_relaxed.owl extracellular structure GO:0005576 True owl:Class IAO:0000114 biolink:NamedThing has curation status tmpte7i6ely_mondo_relaxed.owl has curation status PERSON:Bill Bug|PERSON:Alan Ruttenberg|PERSON:Melanie Courtot owl:AnnotationProperty MONDO:0000187 biolink:NamedThing obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010004 True owl:Class MONDO:0006204 biolink:NamedThing obsolete extramammary Paget disease tmpte7i6ely_mondo_relaxed.owl MONDO:0008177 True owl:Class MONDO:0000504 biolink:NamedThing obsolete follicular lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018906 True owl:Class MONDO:0008112 biolink:NamedThing obsolete Goldenhar syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015397 Obsoleted in Orphanet. True https://github.com/monarch-initiative/mondo/issues/2358 owl:Class MONDO:0006675 biolink:NamedThing obsolete benign monoclonal gammopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0004225 True owl:Class MONDO:0002725 biolink:NamedThing obsolete diffuse cutaneous mastocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019315 True owl:Class MONDO:0009494 biolink:NamedThing obsolete Ketoadipicaciduria tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008774 Merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/3796 owl:Class MONDO:0015444 biolink:NamedThing obsolete cleidocranial dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0007340 True owl:Class MONDO:0000877 biolink:NamedThing obsolete Cryptococcal meningitis tmpte7i6ely_mondo_relaxed.owl MONDO:0005723 True owl:Class MONDO:0022676 biolink:NamedThing obsolete cataract - glaucoma tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0015567 True https://github.com/monarch-initiative/mondo/issues/2789 owl:Class MONDO:0000593 biolink:NamedThing obsolete autoimmune disease of skin and connective tissue tmpte7i6ely_mondo_relaxed.owl MONDO:0017841 True owl:Class MONDO:0000319 biolink:NamedThing obsolete infant botulism tmpte7i6ely_mondo_relaxed.owl MONDO:0015804 True owl:Class MONDO:0010202 biolink:NamedThing obsolete Wiskott-Aldrich syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010518 True owl:Class MONDO:0013347 biolink:NamedThing obsolete gastric cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0001056 True owl:Class MONDO:0000055 biolink:NamedThing obsolete major affective disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0004985 True owl:Class MONDO:0009739 biolink:NamedThing obsolete infantile neuroaxonal dystrophy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0024457 True https://github.com/monarch-initiative/mondo/issues/204 owl:Class MONDO:0002084 biolink:NamedThing obsolete neuroectodermal tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0005462 True owl:Class MONDO:0003797 biolink:NamedThing obsolete inflammatory MFH tmpte7i6ely_mondo_relaxed.owl MONDO:0006480 True owl:Class MONDO:0003080 biolink:NamedThing obsolete indolent systemic mastocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0020331 True owl:Class MONDO:0016021 biolink:NamedThing obsolete early infantile epileptic encephalopathy tmpte7i6ely_mondo_relaxed.owl obsolete early infantile epileptic encephalopathy MONDO:0100062 This term will be renamed to 'developmental epileptic encephalopathy' in OMIM. True https://github.com/monarch-initiative/mondo/issues/2027 owl:Class MONDO:0000027 biolink:NamedThing obsolete epilepsy, absence tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006129 biolink:NamedThing obsolete central nervous system lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002571 True owl:Class MONDO:0001483 biolink:NamedThing obsolete Crimean-Congo hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0020501 True owl:Class MONDO:0003338 biolink:NamedThing obsolete von Economo disease tmpte7i6ely_mondo_relaxed.owl obsolete von Economo's disease MONDO:0019384 True owl:Class MONDO:0009304 biolink:NamedThing obsolete Gorlin-Chaudhry-Moss syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0012853 OMIM merged these terms True https://github.com/monarch-initiative/mondo/issues/1685 owl:Class MONDO:0000202 biolink:NamedThing obsolete Heimler syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0100259 True owl:Class MONDO:0002392 biolink:NamedThing obsolete lymphangiosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006282 True owl:Class MONDO:0000735 biolink:NamedThing obsolete oculodentodigital dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0008111 True owl:Class MONDO:0044267 biolink:NamedThing obsolete gcy tmpte7i6ely_mondo_relaxed.owl stature|growth control, Y-chromosome influenced|tooth size|GCY HGNC:4211 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0001359 biolink:NamedThing obsolete Kohler disease tmpte7i6ely_mondo_relaxed.owl MONDO:0016086 True owl:Class MONDO:0044260 biolink:NamedThing obsolete ec1 tmpte7i6ely_mondo_relaxed.owl EC1|natural Killer cell susceptibility 1|susceptibility to lysis by ALLOREACTIVE natural KILLER cells HGNC:7832 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0000279 biolink:NamedThing obsolete Venezuelan hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017876 True owl:Class MONDO:0020570 biolink:NamedThing obsolete Brill-Zinsser disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005680 True owl:Class MONDO:0008664 biolink:NamedThing obsolete autosomal dominant neovascular inflammatory vitreoretinopathy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0006928 True https://github.com/monarch-initiative/mondo/issues/3110 owl:Class MONDO:0016076 biolink:NamedThing obsolete lymphatic filariasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005761 True https://github.com/monarch-initiative/mondo/issues/842 owl:Class MONDO:0003015 biolink:NamedThing obsolete malignant biphasic mesothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006109 True owl:Class MONDO:0003178 biolink:NamedThing obsolete laryngeal adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006264 True owl:Class MONDO:0005022 biolink:NamedThing obsolete ductal breast adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005590 True owl:Class MONDO:0001908 biolink:NamedThing obsolete hypophosphatasia tmpte7i6ely_mondo_relaxed.owl MONDO:0018570 True owl:Class MONDO:0006171 biolink:NamedThing obsolete conjunctival melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002096 True owl:Class MONDO:0013451 biolink:NamedThing obsolete progressive myoclonic epilepsy type 5 tmpte7i6ely_mondo_relaxed.owl MONDO:0011835 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1707 owl:Class MONDO:0000100 biolink:NamedThing obsolete trichorhinophalangeal syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class GO:0072363 biolink:NamedThing obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0019244 biolink:NamedThing obsolete glycogen storage disease tmpte7i6ely_mondo_relaxed.owl MONDO:0002412 True owl:Class GO:0051195 biolink:NamedThing obsolete negative regulation of cofactor metabolic process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpte7i6ely_mondo_relaxed.owl down regulation of cofactor metabolic process|negative regulation of cofactor metabolism|downregulation of cofactor metabolic process|down-regulation of cofactor metabolic process|inhibition of cofactor metabolic process True owl:Class MONDO:0004734 biolink:NamedThing obsolete erythromelalgia tmpte7i6ely_mondo_relaxed.owl MONDO:0016028 True owl:Class MONDO:0023141 biolink:NamedThing obsolete antihypertensive drugs antenatal exposure syndrome tmpte7i6ely_mondo_relaxed.owl fetal antihypertensive drugs syndrome|antihypertensive drugs antenatal exposure https://github.com/monarch-initiative/mondo/issues/141 GARD:0000733 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0010616 biolink:NamedThing obsolete hypogonadism, male tmpte7i6ely_mondo_relaxed.owl MONDO:0009421 True owl:Class MONDO:0016278 biolink:NamedThing obsolete carcinosarcoma of the cervix uteri OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. tmpte7i6ely_mondo_relaxed.owl MONDO:0002877 True owl:Class MONDO:0019495 biolink:NamedThing obsolete yolk sac tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0005744 True owl:Class MONDO:0005882 biolink:NamedThing obsolete onchocerciasis tmpte7i6ely_mondo_relaxed.owl MONDO:0017137 True owl:Class MONDO:0005948 biolink:NamedThing obsolete Ritter disease tmpte7i6ely_mondo_relaxed.owl MONDO:0018181 True owl:Class MONDO:0007262 biolink:NamedThing obsolete carcinoid syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0006689 True owl:Class MONDO:0002456 biolink:NamedThing obsolete cervix carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005131 True owl:Class MONDO:0023217 biolink:NamedThing obsolete gastro-enteropancreatic neuroendocrine tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0015078 True owl:Class MONDO:0000142 biolink:NamedThing obsolete multiple congenital anomalies-hypotonia-seizures syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019042 True owl:Class MONDO:0005869 biolink:NamedThing obsolete myiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0019147 True owl:Class MONDO:0018367 biolink:NamedThing obsolete clear cell adenocarcinoma of ovary tmpte7i6ely_mondo_relaxed.owl MONDO:0006045 True owl:Class MONDO:0018863 biolink:NamedThing obsolete leptospirosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005825 True owl:Class MONDO:0005222 biolink:NamedThing obsolete acute megakaryoblastic leukaemia tmpte7i6ely_mondo_relaxed.owl MONDO:0004655 True owl:Class MONDO:0000221 biolink:NamedThing obsolete cerebroretinal microangiopathy with calcifications and cysts tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0007889 biolink:NamedThing obsolete lentigines tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0021582 True https://github.com/monarch-initiative/mondo/issues/3692 owl:Class MONDO:0013958 biolink:NamedThing obsolete monocyte and dendritic cell deficiency, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MONDO:0009194 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1710 owl:Class MONDO:0017664 biolink:NamedThing obsolete rare genetic myoclonus tmpte7i6ely_mondo_relaxed.owl MONDO:0017663 True owl:Class MONDO:0019598 biolink:NamedThing obsolete fragile X syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010383 True owl:Class MONDO:0000864 biolink:NamedThing obsolete congenital myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0019952 True owl:Class MONDO:0005553 biolink:NamedThing obsolete parathyroid disease tmpte7i6ely_mondo_relaxed.owl MONDO:0001223 True owl:Class MONDO:0011645 biolink:NamedThing obsolete aneurysmal bone cysts tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0018815 True https://github.com/monarch-initiative/mondo/issues/2868 owl:Class MONDO:0006100 biolink:NamedThing obsolete Bartholin gland carcinoma tmpte7i6ely_mondo_relaxed.owl obsolete Bartholin gland carcinoma (disease) obsolete Bartholin gland carcinoma (disease) MONDO:0002829 True owl:Class IAO:0000596 biolink:NamedThing has ID digit count Relates an ontology used to record id policy to the number of digits in the URI. The URI is: the 'has ID prefix" annotation property value concatenated with an integer in the id range (left padded with "0"s to make this many digits) tmpte7i6ely_mondo_relaxed.owl has ID digit count Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0007326 biolink:NamedThing obsolete paroxysmal nonkinesigenic dyskinesia 1 tmpte7i6ely_mondo_relaxed.owl term split MONDO:0700089 True https://github.com/monarch-initiative/mondo/issues/3265 owl:Class MONDO:0000184 biolink:NamedThing obsolete congenital vitamin K-dependent coagulation factors combined deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0015722 True https://github.com/monarch-initiative/mondo/issues/400 owl:Class GO:0044445 biolink:NamedThing obsolete cytosolic part OBSOLETE. Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components. tmpte7i6ely_mondo_relaxed.owl cytosol component GO:0005829 True owl:Class MONDO:0023191 biolink:NamedThing obsolete Freire-Maia odontotrichomelic syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010111 Duplicate True https://github.com/monarch-initiative/mondo/issues/2579 owl:Class MONDO:0100106 biolink:NamedThing obsolete neonatal epileptic encephalopathy OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. tmpte7i6ely_mondo_relaxed.owl out of scope Reason: out of scope. Recommended for obsoletion by the ClinGen Epilepsy GCEP. Term to consdier: MONDO:0100455 Neonatal-onset developmental and epileptic encephalopathy. MONDO:0100455 http://orcid.org/0000-0001-5208-3432 True owl:Class MONDO:0000641 biolink:NamedThing obsolete cerebellar medulloblastoma OBSOLETE. A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. tmpte7i6ely_mondo_relaxed.owl MONDO:0007959 True owl:Class MONDO:0006914 biolink:NamedThing obsolete POEMS syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017364 True owl:Class MONDO:0000752 biolink:NamedThing obsolete myelomeningocele tmpte7i6ely_mondo_relaxed.owl MONDO:0019773 True owl:Class MONDO:0019185 biolink:NamedThing obsolete rhabdomyosarcoma tmpte7i6ely_mondo_relaxed.owl obsolete rhabdomyosarcoma (disease) obsolete rhabdomyosarcoma (disease) MONDO:0005212 True owl:Class MONDO:0000567 biolink:NamedThing obsolete C1 inhibitor deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0007361 True owl:Class MONDO:0005935 biolink:NamedThing obsolete reactive arthritis tmpte7i6ely_mondo_relaxed.owl MONDO:0017376 True owl:Class MONDO:0011865 biolink:NamedThing obsolete COL4A1-related familial vascular leukoencephalopathy OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34. tmpte7i6ely_mondo_relaxed.owl MONDO:0008289 True owl:Class MONDO:0000768 biolink:NamedThing obsolete Zika fever tmpte7i6ely_mondo_relaxed.owl MONDO:0018661 True owl:Class MONDO:0004921 biolink:NamedThing obsolete Omsk hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017882 True owl:Class MONDO:0008820 biolink:NamedThing obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0014243 True https://github.com/monarch-initiative/mondo/issues/2836 owl:Class MONDO:0001432 biolink:NamedThing obsolete sodoku disease tmpte7i6ely_mondo_relaxed.owl MONDO:0020532 True owl:Class MONDO:0003020 biolink:NamedThing obsolete orofaciodigital syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015375 True owl:Class MONDO:0002723 biolink:NamedThing obsolete cutaneous mastocytosis tmpte7i6ely_mondo_relaxed.owl obsolete cutaneous mastocytosis (disease) obsolete cutaneous mastocytosis (disease) MONDO:0019023 True owl:Class MONDO:0004711 biolink:NamedThing obsolete amyloidosis tmpte7i6ely_mondo_relaxed.owl obsolete amyloidosis (disease) obsolete amyloidosis (disease) MONDO:0019065 True owl:Class MONDO:0000985 biolink:NamedThing obsolete ehrlichiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016003 True owl:Class MONDO:0000051 biolink:NamedThing obsolete keratoderma, palmoplantar striate tmpte7i6ely_mondo_relaxed.owl See genetic heterogeneity of OMIM 148700. True owl:Class MONDO:0005450 biolink:NamedThing obsolete autoimmune disease tmpte7i6ely_mondo_relaxed.owl MONDO:0007179 True owl:Class MONDO:0014610 biolink:NamedThing obsolete ciliary dyskinesia, primary, 31 tmpte7i6ely_mondo_relaxed.owl moved to 243605 MONDO:0009477 True owl:Class MONDO:0003102 biolink:NamedThing obsolete perineurioma tmpte7i6ely_mondo_relaxed.owl MONDO:0019404 True owl:Class MONDO:0019361 biolink:NamedThing obsolete boutonneuse fever tmpte7i6ely_mondo_relaxed.owl MONDO:0005677 True owl:Class MONDO:0013399 biolink:NamedThing obsolete cardiomyopathy, dilated, 1T tmpte7i6ely_mondo_relaxed.owl MONDO:0000911 True owl:Class MONDO:0000399 biolink:NamedThing obsolete dyskinetic cerebral palsy tmpte7i6ely_mondo_relaxed.owl MONDO:0022697 True owl:Class MONDO:0018348 biolink:NamedThing obsolete polyglucosan body myopathy type 1 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0014389 True https://github.com/monarch-initiative/mondo/issues/2668 owl:Class MONDO:0007954 biolink:NamedThing obsolete May-Hegglin anomaly tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0015912 True https://github.com/monarch-initiative/mondo/issues/1376 owl:Class MONDO:0000176 biolink:NamedThing obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019375 True owl:Class MONDO:0000999 biolink:NamedThing obsolete pneumoconiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0015926 True owl:Class MONDO:0021247 biolink:NamedThing obsolete renal pelvis neoplasm tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0005261 biolink:NamedThing obsolete pervasive developmental disorder - not otherwise specified tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0005258 True https://github.com/monarch-initiative/mondo/issues/2505 owl:Class MONDO:0018272 biolink:NamedThing obsolete small cell carcinoma of the ovary OBSOLETE. A small cell carcinoma that involves the ovary. tmpte7i6ely_mondo_relaxed.owl MONDO:0003795 True owl:Class MONDO:0004003 biolink:NamedThing obsolete pancreatic solid pseudopapillary carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018525 True owl:Class MONDO:0000258 biolink:NamedThing obsolete intestinal botulism tmpte7i6ely_mondo_relaxed.owl MONDO:0015805 True owl:Class MONDO:0004683 biolink:NamedThing obsolete Evans' syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016030 True owl:Class MONDO:0010272 biolink:NamedThing obsolete syndromic X-linked intellectual disability type 10 tmpte7i6ely_mondo_relaxed.owl MONDO:0010327 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1690 owl:Class MONDO:0000475 biolink:NamedThing obsolete pyrimidine metabolic disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0019238 True owl:Class MONDO:0016849 biolink:NamedThing obsolete Nakajo-Nishimura syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009726 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class GO:0051181 biolink:NamedThing obsolete cofactor transport OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein. tmpte7i6ely_mondo_relaxed.owl vitamin or cofactor transport True owl:Class MONDO:0006902 biolink:NamedThing obsolete periventricular leukomalacia tmpte7i6ely_mondo_relaxed.owl MONDO:0015742 True owl:Class MONDO:0003230 biolink:NamedThing obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0021039 True owl:Class MONDO:0017854 biolink:NamedThing obsolete T-b+ severe combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0001675 biolink:NamedThing obsolete porphyria tmpte7i6ely_mondo_relaxed.owl MONDO:0019142 True owl:Class MONDO:0021628 biolink:NamedThing obsolete lacrimal system disease tmpte7i6ely_mondo_relaxed.owl MONDO:0001854 True owl:Class MONDO:0000349 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0019011 True owl:Class MONDO:0002506 biolink:NamedThing obsolete early myoclonic encephalopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0016022 True owl:Class MONDO:0001545 biolink:NamedThing obsolete von willebrand disease tmpte7i6ely_mondo_relaxed.owl obsolete von willebrand's disease MONDO:0019565 True owl:Class MONDO:0022423 biolink:NamedThing obsolete alpha-2 deficient collagen disease tmpte7i6ely_mondo_relaxed.owl MONDO:0008761 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0024254 biolink:NamedThing obsolete vibratory angioedema tmpte7i6ely_mondo_relaxed.owl MONDO:0008657 True owl:Class MONDO:0005409 biolink:NamedThing obsolete variant Creutzfeld Jacob disease tmpte7i6ely_mondo_relaxed.owl MONDO:0007012 True owl:Class GO:0044449 biolink:NamedThing obsolete contractile fiber part OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpte7i6ely_mondo_relaxed.owl contractile fibre component|muscle fiber component|muscle fibre component GO:0043292 True owl:Class MONDO:0015105 biolink:NamedThing obsolete African tick typhus tmpte7i6ely_mondo_relaxed.owl MONDO:0024472 True owl:Class MONDO:0022464 biolink:NamedThing obsolete anophthalmia microcephaly hypogonadism tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 GARD:0000718 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0002500 biolink:NamedThing obsolete gliosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016681 True owl:Class MONDO:0003583 biolink:NamedThing obsolete atypical lipomatous tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006097 True owl:Class MONDO:0002524 biolink:NamedThing obsolete hyperlipoproteinemia type III tmpte7i6ely_mondo_relaxed.owl MONDO:0018473 True owl:Class MONDO:0003488 biolink:NamedThing obsolete anal squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006082 True owl:Class MONDO:0010934 biolink:NamedThing obsolete DFNB5 tmpte7i6ely_mondo_relaxed.owl MONDO:0000912 True owl:Class MONDO:0003380 biolink:NamedThing obsolete endometrial clear cell adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006191 True owl:Class GO:0035948 biolink:NamedThing obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter|regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter|regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0002018 biolink:NamedThing obsolete Leber congenital amaurosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018998 True owl:Class MONDO:0018785 biolink:NamedThing obsolete nodular fasciitis OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpte7i6ely_mondo_relaxed.owl MONDO:0004187 True owl:Class MONDO:0001002 biolink:NamedThing obsolete pulmonary siderosis tmpte7i6ely_mondo_relaxed.owl MONDO:0008346 True owl:Class MONDO:0007081 biolink:NamedThing obsolete allergic bronchopulmonary aspergillosis tmpte7i6ely_mondo_relaxed.owl MONDO:0015243 True owl:Class MONDO:0000712 biolink:NamedThing obsolete FTDALS tmpte7i6ely_mondo_relaxed.owl MONDO:0017161 duplicate True https://github.com/monarch-initiative/mondo/issues/1902 owl:Class MONDO:0044225 biolink:NamedThing obsolete creatine kinase, brain type, ectopic expression of tmpte7i6ely_mondo_relaxed.owl creatine KINASE, brain type, ectopic expression OF|CKBE HGNC:1992 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0003188 biolink:NamedThing obsolete juvenile myoclonic epilepsy tmpte7i6ely_mondo_relaxed.owl MONDO:0009696 True owl:Class MONDO:0002704 biolink:NamedThing obsolete appendix adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006087 True owl:Class MONDO:0001840 biolink:NamedThing obsolete schistosomiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0015254 True owl:Class MONDO:0002689 biolink:NamedThing obsolete pseudomyxoma peritonei tmpte7i6ely_mondo_relaxed.owl MONDO:0017048 True owl:Class MONDO:0007324 biolink:NamedThing obsolete chorea tmpte7i6ely_mondo_relaxed.owl MONDO:0001595 True owl:Class MONDO:0000135 biolink:NamedThing obsolete Kenny-Caffey syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016516 True owl:Class MONDO:0021909 biolink:NamedThing obsolete aplasia cutis congenita recessive tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 MONDO:0007145 True owl:Class MONDO:0005726 biolink:NamedThing obsolete cysticercosis tmpte7i6ely_mondo_relaxed.owl MONDO:0015484 True owl:Class MONDO:0002179 biolink:NamedThing obsolete placental choriocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006374 True owl:Class MONDO:0006437 biolink:NamedThing obsolete superficial fibromatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016037 True owl:Class GO:0055114 biolink:NamedThing obsolete oxidation-reduction process OBSOLETE. A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. tmpte7i6ely_mondo_relaxed.owl oxidation reduction|oxidoreductase process True owl:Class MONDO:0003201 biolink:NamedThing obsolete esophagus adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005028 True owl:Class MONDO:0000581 biolink:NamedThing obsolete lambda 5 deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0013287 This was considered a duplicate. True https://github.com/monarch-initiative/mondo/issues/383 owl:Class MONDO:0009160 biolink:NamedThing obsolete Ehlers-Danlos syndrome, type 6 tmpte7i6ely_mondo_relaxed.owl MONDO:0016002 True owl:Class OBO:mondo#excluded_subClassOf biolink:NamedThing excluded subClassOf tmpte7i6ely_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0004179 biolink:NamedThing obsolete astroblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016707 True owl:Class MONDO:0009325 biolink:NamedThing obsolete deafness-enamel hypoplasia-nail defects syndrome tmpte7i6ely_mondo_relaxed.owl duplicate MONDO:0100229 True https://github.com/monarch-initiative/mondo/issues/2857 owl:Class MONDO:0006445 biolink:NamedThing obsolete testicular choriocarcinoma OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. tmpte7i6ely_mondo_relaxed.owl MONDO:0003508 True owl:Class MONDO:0010845 biolink:NamedThing obsolete macrothrombocytopenia and progressive sensorineural deafness tmpte7i6ely_mondo_relaxed.owl MONDO:0007954 True owl:Class MONDO:0000194 biolink:NamedThing obsolete Otofaciocervical syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008163 True owl:Class GO:0044439 biolink:NamedThing obsolete peroxisomal part OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2). tmpte7i6ely_mondo_relaxed.owl peroxisome component GO:0005777 True owl:Class MONDO:0000357 biolink:NamedThing obsolete West syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018097 True owl:Class MONDO:0006943 biolink:NamedThing obsolete relapsing polychondritis tmpte7i6ely_mondo_relaxed.owl MONDO:0019125 True owl:Class MONDO:0019974 biolink:NamedThing obsolete postencephalitic parkinsonism tmpte7i6ely_mondo_relaxed.owl MONDO:0001945 True owl:Class MONDO:0000091 biolink:NamedThing obsolete progressive familial heart block tmpte7i6ely_mondo_relaxed.owl MONDO:0019490 True owl:Class MONDO:0000617 biolink:NamedThing obsolete Her2-receptor positive breast cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0006244 True owl:Class MONDO:0020471 biolink:NamedThing obsolete pituitary adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006373 True owl:Class MONDO:0000697 biolink:NamedThing obsolete succinic semialdehyde dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0010083 True owl:Class MONDO:0022850 biolink:NamedThing obsolete congenital sucrose isomaltose malabsorption tmpte7i6ely_mondo_relaxed.owl MONDO:0009114 True owl:Class MONDO:0003823 biolink:NamedThing obsolete transient hypogammaglobulinemia of infancy tmpte7i6ely_mondo_relaxed.owl MONDO:0015698 True owl:Class MONDO:0002111 biolink:NamedThing obsolete peritoneal mesothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006362 True owl:Class MONDO:0002059 biolink:NamedThing obsolete breast duct papilloma tmpte7i6ely_mondo_relaxed.owl MONDO:0021097 True owl:Class MONDO:0006020 biolink:NamedThing obsolete Zollinger-Ellison syndrome tmpte7i6ely_mondo_relaxed.owl obsolete Zollinger-Ellison syndrome (disease) obsolete Zollinger-Ellison syndrome (disease) MONDO:0019610 True owl:Class MONDO:0005353 biolink:NamedThing obsolete marijuana dependence OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. tmpte7i6ely_mondo_relaxed.owl MONDO:0005689 True owl:Class MONDO:0000570 biolink:NamedThing obsolete severe combined immunodeficiency due to artemis deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0011225 True owl:Class MONDO:0000538 biolink:NamedThing obsolete spindle epithelial tumor with thymus-like differentiation tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006466 True owl:Class MONDO:0018300 biolink:NamedThing obsolete genetic hyperaldosteronism tmpte7i6ely_mondo_relaxed.owl MONDO:0016525 True owl:Class MONDO:0000150 biolink:NamedThing obsolete spondylometaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0016763 True owl:Class MONDO:0035363 biolink:NamedThing obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0060759 True https://github.com/monarch-initiative/mondo/issues/3541 owl:Class MONDO:0001189 biolink:NamedThing obsolete esophageal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019086 True owl:Class MONDO:0018195 biolink:NamedThing obsolete non-seminomatous germ cell tumor of testis tmpte7i6ely_mondo_relaxed.owl MONDO:0002873 True owl:Class MONDO:0007063 biolink:NamedThing obsolete long bone adamantinoma OBSOLETE. A adamantinoma that involves the long bone. tmpte7i6ely_mondo_relaxed.owl MONDO:0002422 True owl:Class MONDO:0003817 biolink:NamedThing obsolete peritoneal serous papillary adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018368 True https://github.com/monarch-initiative/mondo/issues/392 owl:Class MONDO:0000718 biolink:NamedThing obsolete Adams-Oliver syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007034 True owl:Class MONDO:0022469 biolink:NamedThing obsolete aortic arches defect tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 MONDO:0015236 True owl:Class MONDO:0000131 biolink:NamedThing obsolete hyperpigmentation, familial progressive tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000064 biolink:NamedThing obsolete syndromic microphthalmia tmpte7i6ely_mondo_relaxed.owl MONDO:0016073 True owl:Class MONDO:0000126 biolink:NamedThing obsolete gastric cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0001056 True owl:Class MONDO:0007684 biolink:NamedThing obsolete granulomatous disease, chronic, autosomal dominant type tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010600 True https://github.com/monarch-initiative/mondo/issues/3797 owl:Class MONDO:0000021 biolink:NamedThing obsolete short-rib thoracic dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0018770 True owl:Class MONDO:0044263 biolink:NamedThing obsolete lutheran suppressor, x-linked OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420. tmpte7i6ely_mondo_relaxed.owl Lutheran suppressor, X-linked|XS|LuxS HGNC:12837 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0002504 biolink:NamedThing obsolete grade III astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016684 True owl:Class GO:0044428 biolink:NamedThing obsolete nuclear part OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. tmpte7i6ely_mondo_relaxed.owl nuclear subcomponent|nucleus component GO:0005634 True owl:Class MONDO:0100140 biolink:NamedThing obsolete mild COVID-19 infection OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging. tmpte7i6ely_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0001047 biolink:NamedThing obsolete adrenal cortical hypofunction tmpte7i6ely_mondo_relaxed.owl MONDO:0000004 True owl:Class MONDO:0021683 biolink:NamedThing obsolete transmissible disease OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process. tmpte7i6ely_mondo_relaxed.owl MONDO:0005550 True owl:Class MONDO:0005600 biolink:NamedThing obsolete ovarian adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002752 True owl:Class MONDO:0008122 biolink:NamedThing obsolete olivopontocerebellar atrophy 5 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011781 True https://github.com/monarch-initiative/mondo/issues/3805 owl:Class MONDO:0002020 biolink:NamedThing obsolete Blount disease tmpte7i6ely_mondo_relaxed.owl obsolete Blount's disease MONDO:0017194 True owl:Class MONDO:0000882 biolink:NamedThing obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0015689 True https://github.com/monarch-initiative/mondo/issues/3845 owl:Class MONDO:0016732 biolink:NamedThing obsolete dysembryoplastic neuroepithelial tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0005505 True owl:Class MONDO:0000614 biolink:NamedThing obsolete estrogen-receptor negative breast cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0006513 True owl:Class MONDO:0017796 biolink:NamedThing obsolete ameloblastic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006079 True owl:Class MONDO:0000085 biolink:NamedThing obsolete pituitary hormone deficiency, combined tmpte7i6ely_mondo_relaxed.owl OMIMPS:613038 True owl:Class MONDO:0006959 biolink:NamedThing obsolete Schnitzler syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018304 True owl:Class MONDO:0000900 biolink:NamedThing obsolete PTEN hamartoma tumor syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017623 True owl:Class MONDO:0003407 biolink:NamedThing obsolete ovarian yolk sac tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006344 True owl:Class MONDO:0015598 biolink:NamedThing obsolete acrodermatitis continua suppurativa of Hallopeau tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0002668 biolink:NamedThing obsolete gallbladder adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006215 True owl:Class MONDO:0022725 biolink:NamedThing obsolete chondrodysplasia lethal recessive tmpte7i6ely_mondo_relaxed.owl MONDO:0015425 This was a duplicate class. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0006415 biolink:NamedThing obsolete small intestinal adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003198 True owl:Class MONDO:0000689 biolink:NamedThing obsolete survival motor neuron spinal muscular atrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0009669 True owl:Class MONDO:0002160 biolink:NamedThing obsolete cerebral palsy tmpte7i6ely_mondo_relaxed.owl MONDO:0006497 True owl:Class MONDO:0003094 biolink:NamedThing obsolete mucoepidermoid thyroid carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006463 True owl:Class MONDO:0006332 biolink:NamedThing obsolete ovarian choriocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003507 True owl:Class MONDO:0000361 biolink:NamedThing obsolete d-2-hydroxyglutaric aciduria tmpte7i6ely_mondo_relaxed.owl MONDO:0010924 True owl:Class MONDO:0019001 biolink:NamedThing obsolete biotin-responsive basal ganglia disease tmpte7i6ely_mondo_relaxed.owl MONDO:0011841 True owl:Class MONDO:0000657 biolink:NamedThing obsolete gamma heavy chain disease tmpte7i6ely_mondo_relaxed.owl MONDO:0015046 True owl:Class MONDO:0000401 biolink:NamedThing obsolete congenital bile acid synthesis defect tmpte7i6ely_mondo_relaxed.owl MONDO:0018841 True owl:Class MONDO:0001248 biolink:NamedThing obsolete rabies tmpte7i6ely_mondo_relaxed.owl MONDO:0019173 True owl:Class MONDO:0017959 biolink:NamedThing obsolete JMP syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009726 True owl:Class MONDO:0003242 biolink:NamedThing obsolete fibrolamellar carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006210 True owl:Class MONDO:0000134 biolink:NamedThing obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia tmpte7i6ely_mondo_relaxed.owl MONDO:0000507 True owl:Class MONDO:0000493 biolink:NamedThing obsolete Muckle-Wells syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008633 True owl:Class MONDO:0006785 biolink:NamedThing obsolete Henoch-Schoenlein purpura tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0019167 True https://github.com/monarch-initiative/mondo/issues/4092 owl:Class MONDO:0005653 biolink:NamedThing obsolete asbestosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016466 True owl:Class MONDO:0024597 biolink:NamedThing obsolete CD3epsilon deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0014278 True owl:Class MONDO:0005107 biolink:NamedThing obsolete hepatocellular adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018902 True owl:Class MONDO:0000296 biolink:NamedThing obsolete angiostrongyliasis tmpte7i6ely_mondo_relaxed.owl MONDO:0019143 True owl:Class MONDO:0005069 biolink:NamedThing obsolete narcolepsy with cataplexy tmpte7i6ely_mondo_relaxed.owl MONDO:0016158 True owl:Class MONDO:0002389 biolink:NamedThing obsolete adenofibroma tmpte7i6ely_mondo_relaxed.owl MONDO:0006071 True owl:Class MONDO:0010376 biolink:NamedThing obsolete Brooks-Wisniewski-brown syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010407 Obsoleted in OMIM and GARD. True https://github.com/monarch-initiative/mondo/issues/696 owl:Class MONDO:0020534 biolink:NamedThing obsolete farmer's lung tmpte7i6ely_mondo_relaxed.owl MONDO:0001971 True owl:Class MONDO:0000281 biolink:NamedThing obsolete Chapare hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017878 True owl:Class MONDO:0000699 biolink:NamedThing obsolete homocarnosinosis tmpte7i6ely_mondo_relaxed.owl MONDO:0009351 True owl:Class MONDO:0003016 biolink:NamedThing obsolete sarcomatoid mesothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006407 True owl:Class MONDO:0004945 biolink:NamedThing obsolete hypereosinophilic syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015691 True owl:Class MONDO:0019961 biolink:NamedThing obsolete somatostatinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006976 True owl:Class MONDO:0006542 biolink:NamedThing obsolete epidermolysis bullosa acquisita OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. tmpte7i6ely_mondo_relaxed.owl MONDO:0018747 True owl:Class MONDO:0009730 biolink:NamedThing obsolete nephrosialidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0009738 True owl:Class MONDO:0007292 biolink:NamedThing obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0004914 True https://github.com/monarch-initiative/mondo/issues/3691 owl:Class MONDO:0006057 biolink:NamedThing obsolete thymic lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0000951 True owl:Class MONDO:0003221 biolink:NamedThing obsolete sclerosing hemangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006280 True owl:Class MONDO:0000427 biolink:NamedThing obsolete autosomal recessive disease tmpte7i6ely_mondo_relaxed.owl MONDO:0006025 True owl:Class MONDO:0006017 biolink:NamedThing obsolete western equine encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019380 True owl:Class MONDO:0020309 biolink:NamedThing obsolete Landau-Kleffner syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009509 True owl:Class MONDO:0000215 biolink:NamedThing obsolete epilepsy, familial focal, with variable foci tmpte7i6ely_mondo_relaxed.owl MONDO:0020310 True owl:Class MONDO:0024385 biolink:NamedThing obsolete arenavirus infectious disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005650 True owl:Class MONDO:0018578 biolink:NamedThing obsolete hypophosphatemic rickets tmpte7i6ely_mondo_relaxed.owl MONDO:0000044 True owl:Class MONDO:0001587 biolink:NamedThing obsolete mucopolysaccharidosis type 4 tmpte7i6ely_mondo_relaxed.owl MONDO:0018938 True owl:Class MONDO:0000844 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0016761 Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia True owl:Class MONDO:0008987 biolink:NamedThing obsolete cirrhosis, familial tmpte7i6ely_mondo_relaxed.owl MONDO:0007329 True owl:Class MONDO:0004823 biolink:NamedThing obsolete dextrocardia tmpte7i6ely_mondo_relaxed.owl MONDO:0015661 True owl:Class MONDO:0015098 biolink:NamedThing obsolete situs inversus totalis tmpte7i6ely_mondo_relaxed.owl obsolete situs inversus totalis (disease) obsolete situs inversus totalis (disease) MONDO:0010029 True owl:Class MONDO:0000086 biolink:NamedThing obsolete polydactyly, preaxial tmpte7i6ely_mondo_relaxed.owl MONDO:0017425 True owl:Class IAO:0000425 biolink:NamedThing expand assertion to A macro expansion tag applied to an annotation property which can be expanded into a more detailed axiom. tmpte7i6ely_mondo_relaxed.owl expand assertion to ObjectProperty: RO??? Label: spatially disjoint from Annotations: expand_assertion_to "DisjointClasses: (http://purl.obolibrary.org/obo/BFO_0000051 some ?X) (http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" Chris Mungall owl:AnnotationProperty MONDO:0004791 biolink:NamedThing obsolete lipid storage disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019245 True owl:Class MONDO:0100088 biolink:NamedThing obsolete late-onset familial alzheimer disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0007089 True https://github.com/monarch-initiative/mondo/issues/3947 owl:Class MONDO:0000609 biolink:NamedThing obsolete sideroblastic anemia with spinocerebellar ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0010524 True owl:Class MONDO:0004606 biolink:NamedThing obsolete pyoderma gangrenosum tmpte7i6ely_mondo_relaxed.owl MONDO:0018824 True owl:Class MONDO:0016754 biolink:NamedThing obsolete vestibular schwannoma tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0001569 True https://github.com/monarch-initiative/mondo/issues/4201 owl:Class MONDO:0000040 biolink:NamedThing obsolete hyperphenylalaninemia, BH4-deficient tmpte7i6ely_mondo_relaxed.owl MONDO:0016543 True owl:Class MONDO:0004282 biolink:NamedThing obsolete eccrine porocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006189 True owl:Class IAO:0000601 biolink:NamedThing has associated axiom(nl) tmpte7i6ely_mondo_relaxed.owl Person:Alan Ruttenberg has associated axiom(nl) An axiom associated with a term expressed using natural language Person:Alan Ruttenberg owl:AnnotationProperty GO:0005724 biolink:NamedThing obsolete nuclear telomeric heterochromatin OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres of a chromosome in the nucleus. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0017820 biolink:NamedThing obsolete obsolete disease with Cushing syndrome as a major feature OBSOLETE. A disease in which Cushing syndrome is a major feature. tmpte7i6ely_mondo_relaxed.owl rare disease with Cushing syndrome as a major feature MONDO:outOfScope This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'. Orphanet:314749|UMLS:CN203791 True https://github.com/monarch-initiative/mondo/issues/1522|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0006991 biolink:NamedThing obsolete sympathetic ophthalmia tmpte7i6ely_mondo_relaxed.owl MONDO:0019198 True owl:Class MONDO:0009078 biolink:NamedThing obsolete Jervell and Lange-Nielsen syndrome tmpte7i6ely_mondo_relaxed.owl obsolete Jervell and Lange-Nielsen syndrome terms merged MONDO:0002441 True https://github.com/monarch-initiative/mondo/issues/3073 owl:Class MONDO:0006259 biolink:NamedThing obsolete juvenile xanthogranuloma tmpte7i6ely_mondo_relaxed.owl MONDO:0015534 True owl:Class MONDO:0004470 biolink:NamedThing obsolete osteochondrosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018381 True owl:Class MONDO:0008897 biolink:NamedThing obsolete tumoral calcinosis, hyperphosphatemic, familial, 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0100251 Split this term into the more general Orphanet class and more specific OMIM term. True https://github.com/monarch-initiative/mondo/issues/962 owl:Class MONDO:0001839 biolink:NamedThing obsolete interstitial cystitis tmpte7i6ely_mondo_relaxed.owl MONDO:0018301 True owl:Class MONDO:0004688 biolink:NamedThing obsolete sideroblastic anemia tmpte7i6ely_mondo_relaxed.owl MONDO:0015194 True owl:Class MONDO:0000881 biolink:NamedThing obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0015688 True https://github.com/monarch-initiative/mondo/issues/3845 owl:Class MONDO:0018915 biolink:NamedThing obsolete pneumococcal meningitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006913 True owl:Class MONDO:0000562 biolink:NamedThing obsolete hypomyelinating leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000362 biolink:NamedThing obsolete Sensenbrenner syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009032 True owl:Class MONDO:0004068 biolink:NamedThing obsolete disease of anatomical entity tmpte7i6ely_mondo_relaxed.owl MONDO:0000001 True owl:Class MONDO:0000324 biolink:NamedThing obsolete familial partial lipodystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0020088 True owl:Class MONDO:0000039 biolink:NamedThing obsolete hypercalciuria, absorptive tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0016741 biolink:NamedThing obsolete teratoma of the central nervous system tmpte7i6ely_mondo_relaxed.owl MONDO:0002718 True owl:Class MONDO:0006628 biolink:NamedThing obsolete Sezary disease tmpte7i6ely_mondo_relaxed.owl obsolete Sezary's disease MONDO:0017844 True owl:Class MONDO:0008805 biolink:NamedThing obsolete Takayasu's arteritis tmpte7i6ely_mondo_relaxed.owl MONDO:0017991 True owl:Class MONDO:0018452 biolink:NamedThing obsolete deficiency of the interleukin-36 receptor antagonist tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0000026 biolink:NamedThing obsolete Fanconi renotubular syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0001083 True owl:Class MONDO:0004887 biolink:NamedThing obsolete polyarteritis nodosa tmpte7i6ely_mondo_relaxed.owl MONDO:0019170 True owl:Class MONDO:0015155 biolink:NamedThing obsolete spotted fever rickettsiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0001195 True owl:Class MONDO:0016279 biolink:NamedThing obsolete adenosarcoma of the cervix uteri OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. tmpte7i6ely_mondo_relaxed.owl MONDO:0002876 True owl:Class MONDO:0019106 biolink:NamedThing obsolete disseminated peritoneal leiomyomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0006183 True owl:Class MONDO:0006860 biolink:NamedThing obsolete mucoepidermoid tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0003036 True owl:Class MONDO:0000196 biolink:NamedThing obsolete ataxia-oculomotor apraxia tmpte7i6ely_mondo_relaxed.owl Based on genetic heterogeneity of OMIM 208920. True owl:Class MONDO:0008997 biolink:NamedThing obsolete Cockayne syndrome A tmpte7i6ely_mondo_relaxed.owl MONDO:0019569 True owl:Class MONDO:0008279 biolink:NamedThing obsolete familial adenomatous polyposis type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0021055 True owl:Class MONDO:0022918 biolink:NamedThing obsolete cytokine deficiency OBSOLETE. A disease that has its basis in the disruption of cytokine activity. tmpte7i6ely_mondo_relaxed.owl disorder of cytokine activity|cytokine activity disease GARD:0009529 No children, was added to mirror existing term, there is no info in GARD and GARD plans to obsolete this term. HP:0011112 True https://github.com/monarch-initiative/mondo/issues/1576 owl:Class MONDO:0007582 biolink:NamedThing obsolete Cockayne syndrome B tmpte7i6ely_mondo_relaxed.owl MONDO:0019570 True owl:Class MONDO:0020578 biolink:NamedThing obsolete vitamin D deficiency OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood. tmpte7i6ely_mondo_relaxed.owl vitamin D deficiency HP:0100512 True owl:Class MONDO:0000207 biolink:NamedThing obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies tmpte7i6ely_mondo_relaxed.owl MONDO:0014176 True owl:Class MONDO:0004480 biolink:NamedThing obsolete pancreatic invasive intraductal papillary-mucinous carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004481 True owl:Class MONDO:0009981 biolink:NamedThing obsolete retinitis pigmentosa type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0008377 True owl:Class MONDO:0000178 biolink:NamedThing obsolete breasts and/or nipples, aplasia or hypoplasia of tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0005330 biolink:NamedThing obsolete angiosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016982 True owl:Class MONDO:0000305 biolink:NamedThing obsolete fusariosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016426 True owl:Class MONDO:0003552 biolink:NamedThing obsolete adenosquamous gallbladder carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006217 True owl:Class MONDO:0000818 biolink:NamedThing obsolete lethal congenital contracture syndrome 4 tmpte7i6ely_mondo_relaxed.owl MONDO:0013965 True owl:Class MONDO:0001333 biolink:NamedThing obsolete Patau syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018068 True owl:Class MONDO:0005421 biolink:NamedThing obsolete infantile hypertrophic pyloric stenosis tmpte7i6ely_mondo_relaxed.owl MONDO:0001560 True owl:Class MONDO:0005818 biolink:NamedThing obsolete Langerhans cell sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019480 True owl:Class GO:0072366 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of cellular ketone metabolism by positive regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0010419 biolink:NamedThing obsolete X-linked sideroblastic anemia tmpte7i6ely_mondo_relaxed.owl MONDO:0020721 This term is duplicative with X-linked sideroblastic anemia 1. True https://github.com/monarch-initiative/mondo/issues/2107 owl:Class GO:0044425 biolink:NamedThing obsolete membrane part OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpte7i6ely_mondo_relaxed.owl GO:0016020 True owl:Class MONDO:0005573 biolink:NamedThing obsolete type II hypersensitivity reaction disease tmpte7i6ely_mondo_relaxed.owl MONDO:0007179 True owl:Class MONDO:0019400 biolink:NamedThing obsolete testicular seminomatous germ cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0003669 True owl:Class MONDO:0011379 biolink:NamedThing obsolete medullary cystic kidney disease 2 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008073 True https://github.com/monarch-initiative/mondo/issues/1880 owl:Class MONDO:0006048 biolink:NamedThing obsolete pancreatic neuroendocrine tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0019954 True owl:Class MONDO:0011643 biolink:NamedThing obsolete permanent neonatal diabetes mellitus tmpte7i6ely_mondo_relaxed.owl MONDO:0100164 OMIM created a new phenotypic series (PS), so this class was obsoleted and replaced by a new class for 'permanent neonatal diabetes mellitus' (MONDO:0100164) that is equivalent to the OMIMPS. True https://github.com/monarch-initiative/mondo/issues/1803 owl:Class GO:0033267 biolink:NamedThing obsolete axon part OBSOLETE. A part of an axon, a cell projection of a neuron. tmpte7i6ely_mondo_relaxed.owl GO:0030424 True owl:Class MONDO:0006453 biolink:NamedThing obsolete thymic small cell carcinoma OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. tmpte7i6ely_mondo_relaxed.owl MONDO:0004122 True owl:Class MONDO:0016119 biolink:NamedThing obsolete mitochondrial myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0009637 True owl:Class MONDO:0006538 biolink:NamedThing obsolete dermatitis herpetiformis tmpte7i6ely_mondo_relaxed.owl MONDO:0015614 True owl:Class MONDO:0005370 biolink:NamedThing obsolete interstitial lung disease tmpte7i6ely_mondo_relaxed.owl MONDO:0015925 True owl:Class MONDO:0003920 biolink:NamedThing obsolete gastric small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006229 True owl:Class MONDO:0009799 biolink:NamedThing obsolete pachydermoperiostosis tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0016620 True https://github.com/monarch-initiative/mondo/issues/3395 owl:Class GO:1900418 biolink:NamedThing obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process. tmpte7i6ely_mondo_relaxed.owl up-regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0003496 biolink:NamedThing obsolete endometrial squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006198 True owl:Class MONDO:0003106 biolink:NamedThing obsolete verrucous keratotic hemangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0018734 True owl:Class MONDO:0003166 biolink:NamedThing obsolete pilocytic astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016691 True owl:Class MONDO:0004121 biolink:NamedThing obsolete prostate small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006390 True owl:Class MONDO:0002830 biolink:NamedThing obsolete ovary transitional cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006343 True owl:Class MONDO:0000656 biolink:NamedThing obsolete alpha chain disease tmpte7i6ely_mondo_relaxed.owl MONDO:0015045 True owl:Class MONDO:0006587 biolink:NamedThing obsolete nodular nonsuppurative panniculitis tmpte7i6ely_mondo_relaxed.owl MONDO:0018063 True owl:Class MONDO:0000418 biolink:NamedThing obsolete Ohtahara syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016021 True owl:Class MONDO:0001311 biolink:NamedThing obsolete Chandler syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0020369 True owl:Class MONDO:0019663 biolink:NamedThing obsolete short rib-polydactyly syndrome, Saldino-Noonan type tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0013127 True https://github.com/monarch-initiative/mondo/issues/1376 owl:Class MONDO:0002902 biolink:NamedThing obsolete pseudohypoparathyroidism tmpte7i6ely_mondo_relaxed.owl MONDO:0019992 True owl:Class MONDO:0000441 biolink:NamedThing obsolete X-linked myopathy with excessive autophagy tmpte7i6ely_mondo_relaxed.owl MONDO:0010684 True owl:Class MONDO:0000433 biolink:NamedThing obsolete marginal zone B-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006495 True owl:Class MONDO:0000125 biolink:NamedThing obsolete fundus dystrophy, pseudoinflammatory tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0001289 biolink:NamedThing obsolete endometriosis of ovary tmpte7i6ely_mondo_relaxed.owl MONDO:0006337 True owl:Class MONDO:0020536 biolink:NamedThing obsolete pigeon-breeder lung disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005668 This term is too granulalr and was merged with bird fancier's lung. True https://github.com/monarch-initiative/mondo/issues/385 owl:Class MONDO:0002001 biolink:NamedThing obsolete disease of cellular proliferation tmpte7i6ely_mondo_relaxed.owl MONDO:0005070 True owl:Class MONDO:0000578 biolink:NamedThing obsolete CD3gamma deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0014276 True owl:Class MONDO:0004735 biolink:NamedThing obsolete Alagille syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000444 biolink:NamedThing obsolete ARC syndrome tmpte7i6ely_mondo_relaxed.owl pericyte cell syndromic disease MONDO:0017123 True owl:Class MONDO:0000613 biolink:NamedThing obsolete estrogen-receptor positive breast cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0006512 True owl:Class MONDO:0000850 biolink:NamedThing obsolete hypochondroplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0007793 True owl:Class GO:0044427 biolink:NamedThing obsolete chromosomal part OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpte7i6ely_mondo_relaxed.owl chromosomal component|chromosome part|chromosome component GO:0005694 True owl:Class MONDO:0007897 biolink:NamedThing obsolete leukemia, chronic lymphocytic tmpte7i6ely_mondo_relaxed.owl MONDO:0004948 True owl:Class MONDO:0016720 biolink:NamedThing obsolete atypical papilloma of choroid plexus tmpte7i6ely_mondo_relaxed.owl MONDO:0002684 True owl:Class GO:0005623 biolink:NamedThing obsolete cell OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0020335 biolink:NamedThing obsolete desquamative interstitial pneumonia tmpte7i6ely_mondo_relaxed.owl MONDO:0009887 True owl:Class MONDO:0000103 biolink:NamedThing obsolete Wilms tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0019004 True owl:Class MONDO:0004434 biolink:NamedThing obsolete glomangiomyoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002299 True owl:Class MONDO:0007484 biolink:NamedThing obsolete dyschromatosis universalis tmpte7i6ely_mondo_relaxed.owl MONDO:0000736 True owl:Class MONDO:0005897 biolink:NamedThing obsolete paratyphoid fever tmpte7i6ely_mondo_relaxed.owl MONDO:0018626 True owl:Class MONDO:0002818 biolink:NamedThing obsolete adrenal cortical adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006639 True owl:Class IAO:0000121 biolink:NamedThing organizational term Term created to ease viewing/sort terms for development purpose, and will not be included in a release|term created to ease viewing/sort terms for development purpose, and will not be included in a release tmpte7i6ely_mondo_relaxed.owl organizational term IAO:0000078 MONDO:0007117 biolink:NamedThing obsolete angioedema, hereditary, type 1/2 tmpte7i6ely_mondo_relaxed.owl MONDO:0033946 True https://github.com/monarch-initiative/mondo/issues/1628 owl:Class MONDO:0005237 biolink:NamedThing obsolete pleomorphic liposarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020562 True owl:Class MONDO:0018990 biolink:NamedThing obsolete pulmonary blastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005933 True owl:Class MONDO:0000041 biolink:NamedThing obsolete hyperphosphatasia with mental retardation syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016596 True owl:Class MONDO:0000711 biolink:NamedThing obsolete amyotrophic lateral sclerosis type 13 tmpte7i6ely_mondo_relaxed.owl MONDO:0008458 True owl:Class MONDO:0002986 biolink:NamedThing obsolete neuromuscular disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019056 True owl:Class GO:0051198 biolink:NamedThing obsolete negative regulation of coenzyme metabolic process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpte7i6ely_mondo_relaxed.owl down regulation of coenzyme metabolic process|inhibition of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolic process|downregulation of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolism|down-regulation of coenzyme metabolic process|negative regulation of coenzyme metabolism True owl:Class MONDO:0015276 biolink:NamedThing obsolete prostate cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0008315 True owl:Class MONDO:0004814 biolink:NamedThing obsolete vascular skin disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019293 True owl:Class MONDO:0006376 biolink:NamedThing obsolete plantar fibromatosis OBSOLETE. A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. tmpte7i6ely_mondo_relaxed.owl MONDO:0004684 True owl:Class GO:0044456 biolink:NamedThing obsolete synapse part OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpte7i6ely_mondo_relaxed.owl synaptic component GO:0045202 True owl:Class MONDO:0000054 biolink:NamedThing obsolete macular dystrophy tmpte7i6ely_mondo_relaxed.owl obsolete macular dystrophy (disease) obsolete macular dystrophy (disease) MONDO:0020242 True owl:Class MONDO:0018441 biolink:NamedThing obsolete hepatitis delta tmpte7i6ely_mondo_relaxed.owl MONDO:0005789 True owl:Class MONDO:0000555 biolink:NamedThing obsolete autosomal recessive hypophosphatemic rickets tmpte7i6ely_mondo_relaxed.owl MONDO:0017324 True owl:Class GO:0140603 biolink:NamedThing obsolete ATP hydrolysis activity OBSOLETE. Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. tmpte7i6ely_mondo_relaxed.owl GO:0016887 True owl:Class MONDO:0011328 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1E tmpte7i6ely_mondo_relaxed.owl MONDO:0018098 True owl:Class MONDO:0005456 biolink:NamedThing obsolete avian influenza tmpte7i6ely_mondo_relaxed.owl MONDO:0018695 True owl:Class MONDO:0013126 biolink:NamedThing obsolete Bartter syndrome, type 4B tmpte7i6ely_mondo_relaxed.owl MONDO:0000909 True owl:Class MONDO:0021087 biolink:NamedThing obsolete malignant granular cell myoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003252 True owl:Class MONDO:0016257 biolink:NamedThing obsolete adenosarcoma of the corpus uteri tmpte7i6ely_mondo_relaxed.owl MONDO:0002878 Duplicate True https://github.com/monarch-initiative/mondo/issues/372 owl:Class MONDO:0005423 biolink:NamedThing obsolete pelvic organ prolapse tmpte7i6ely_mondo_relaxed.owl MONDO:0000082 True owl:Class MONDO:0022857 biolink:NamedThing obsolete continuous muscle fiber activity hereditary tmpte7i6ely_mondo_relaxed.owl MONDO:0019943 True owl:Class MONDO:0003949 biolink:NamedThing obsolete cervical adenoma malignum tmpte7i6ely_mondo_relaxed.owl MONDO:0006140 True owl:Class MONDO:0005331 biolink:NamedThing obsolete acrocephalosyndactylia tmpte7i6ely_mondo_relaxed.owl MONDO:0019796 True owl:Class MONDO:0009004 biolink:NamedThing obsolete combined inflammatory and immunologic defect tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0014353 True https://github.com/monarch-initiative/mondo/issues/3799 owl:Class OBO:ncbitaxon#has_rank biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003114 biolink:NamedThing obsolete bone giant cell sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006287 True owl:Class MONDO:0004025 biolink:NamedThing obsolete spinal cord embryonal tumor, not otherwise specified tmpte7i6ely_mondo_relaxed.owl MONDO:0006426 True owl:Class GO:0009108 biolink:NamedThing obsolete coenzyme biosynthetic process OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. tmpte7i6ely_mondo_relaxed.owl coenzyme biosynthesis|coenzyme and prosthetic group biosynthetic process|coenzyme and prosthetic group biosynthesis|coenzyme synthesis|coenzyme anabolism|coenzyme formation True owl:Class MONDO:0000018 biolink:NamedThing obsolete myotonic dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0016107 True owl:Class GO:0100020 biolink:NamedThing obsolete regulation of transport by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport. tmpte7i6ely_mondo_relaxed.owl True owl:Class GO:0044424 biolink:NamedThing obsolete intracellular part OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. tmpte7i6ely_mondo_relaxed.owl GO:0005622 True owl:Class MONDO:0013676 biolink:NamedThing obsolete hypermethioninemia due to adenosine kinase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0100255 Replaced this term with a new term with a new label. True https://github.com/monarch-initiative/mondo/issues/2587 owl:Class MONDO:0017960 biolink:NamedThing obsolete CANDLE syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009726 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0004999 biolink:NamedThing obsolete chondrosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0008977 True owl:Class MONDO:0015142 biolink:NamedThing obsolete ataxia syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0000437 True owl:Class MONDO:0006667 biolink:NamedThing obsolete B- and T-cell mixed leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0020322 True owl:Class MONDO:0045028 biolink:NamedThing obsolete radiation or chemically induced disorder OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure. tmpte7i6ely_mondo_relaxed.owl out of scope True https://github.com/monarch-initiative/mondo/issues/3414 owl:Class MONDO:0000416 biolink:NamedThing obsolete variable age at onset electroclinical syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0100036 True owl:Class MONDO:0002054 biolink:NamedThing obsolete breast cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0007254 True owl:Class MONDO:0003048 biolink:NamedThing obsolete type C thymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006451 True owl:Class MONDO:0003977 biolink:NamedThing obsolete fibrillary astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016688 True owl:Class MONDO:0000571 biolink:NamedThing obsolete CD3zeta deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0012426 True owl:Class MONDO:0002023 biolink:NamedThing obsolete cystic echinococcosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018408 True owl:Class MONDO:0000696 biolink:NamedThing obsolete juvenile absence epilepsy tmpte7i6ely_mondo_relaxed.owl MONDO:0011876 True owl:Class MONDO:0023008 biolink:NamedThing obsolete drachtman weinblatt sitarz syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0023007 True owl:Class MONDO:0000069 biolink:NamedThing obsolete multiple endocrine neoplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0017169 True owl:Class MONDO:0016519 biolink:NamedThing obsolete keratosis follicularis spinulosa decalvans tmpte7i6ely_mondo_relaxed.owl MONDO:0000136 True owl:Class GO:0072362 biolink:NamedThing obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0000546 biolink:NamedThing obsolete parotid gland adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006356 True owl:Class MONDO:0009314 biolink:NamedThing obsolete GTP-cyclohydrolase I deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0100186 Created new term for GTP Cyclohydrolase I deficiency with hyperphenylalaninemia and created grouping class named GTP Cyclohydrolase I deficiency. Obsoleted this to avoid confusion with the new grouping class and the class this was renamed to. True https://github.com/monarch-initiative/mondo/issues/1491 owl:Class MONDO:0003491 biolink:NamedThing obsolete rectum squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018515 True owl:Class MONDO:0007026 biolink:NamedThing obsolete non-alcoholic fatty liver tmpte7i6ely_mondo_relaxed.owl MONDO:0013209 True owl:Class MONDO:0009278 biolink:NamedThing obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl SCHAD deficiency, formerly terms merged MONDO:0012382 True https://github.com/monarch-initiative/mondo/issues/3977 owl:Class MONDO:0022652 biolink:NamedThing obsolete cardiomyopathy dilated with conduction defect type 2 tmpte7i6ely_mondo_relaxed.owl MONDO:0011003 duplicate True https://github.com/monarch-initiative/mondo/issues/2328 owl:Class MONDO:0006440 biolink:NamedThing obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease tmpte7i6ely_mondo_relaxed.owl MONDO:0020332 This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016). True https://github.com/monarch-initiative/mondo/issues/1270 owl:Class MONDO:0022446 biolink:NamedThing obsolete amyloidosis nodular localized cutaneous tmpte7i6ely_mondo_relaxed.owl MONDO:0015302 duplicate True https://github.com/monarch-initiative/mondo/issues/139 owl:Class MONDO:0013861 biolink:NamedThing obsolete amyotrophic lateral sclerosis type 17 tmpte7i6ely_mondo_relaxed.owl MONDO:0010936 merged in OMIM True https://github.com/monarch-initiative/mondo/issues/2577 owl:Class MONDO:0002774 biolink:NamedThing obsolete chordoid glioma tmpte7i6ely_mondo_relaxed.owl MONDO:0016706 True owl:Class MONDO:0003793 biolink:NamedThing obsolete uterine carcinosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006485 True owl:Class GO:0100032 biolink:NamedThing obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0001264 biolink:NamedThing obsolete Kyasanur forest disease tmpte7i6ely_mondo_relaxed.owl MONDO:0017881 True owl:Class MONDO:0002906 biolink:NamedThing obsolete scleroderma tmpte7i6ely_mondo_relaxed.owl MONDO:0019340 True owl:Class MONDO:0000071 biolink:NamedThing obsolete myopathy, myofibrillar tmpte7i6ely_mondo_relaxed.owl MONDO:0018943 OMIMPS:601419 True owl:Class MONDO:0001124 biolink:NamedThing obsolete filariasis tmpte7i6ely_mondo_relaxed.owl MONDO:0016075 True owl:Class MONDO:0019481 biolink:NamedThing obsolete follicular dendritic cell sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005764 True owl:Class OBO:mondo#may_be_merged_into biolink:NamedThing may_be_merged_into tmpte7i6ely_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0005839 biolink:NamedThing obsolete Marburg hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0020500 True owl:Class MONDO:0019842 biolink:NamedThing obsolete pituitary apoplexy tmpte7i6ely_mondo_relaxed.owl MONDO:0006908 True owl:Class MONDO:0006508 biolink:NamedThing obsolete infantile epileptic encephalopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0016021 True owl:Class MONDO:0006175 biolink:NamedThing obsolete craniopharyngioma tmpte7i6ely_mondo_relaxed.owl MONDO:0018907 True owl:Class MONDO:0002374 biolink:NamedThing obsolete parachordoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006351 True owl:Class MONDO:0016920 biolink:NamedThing obsolete partial deletion of the long arm of chromosome 22 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0022760 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0004704 biolink:NamedThing obsolete peroxisomal disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019053 True owl:Class MONDO:0000886 biolink:NamedThing obsolete meningococcal meningitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006852 True owl:Class MONDO:0006985 biolink:NamedThing obsolete subependymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0007667 True owl:Class MONDO:0017679 biolink:NamedThing obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature tmpte7i6ely_mondo_relaxed.owl autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature MONDO:outOfScope This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. Orphanet:308031|UMLS:CN203566 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/pull/2317 owl:Class MONDO:0007146 biolink:NamedThing obsolete apnea, central sleep tmpte7i6ely_mondo_relaxed.owl MONDO:0008807 True owl:Class MONDO:0023031 biolink:NamedThing obsolete dysostosis acral with facial and genital abnormalities tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0024455 True https://github.com/monarch-initiative/mondo/issues/3711 owl:Class MONDO:0000083 biolink:NamedThing obsolete Griscelli syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018306 True owl:Class MONDO:0000394 biolink:NamedThing obsolete alcohol-related neurodevelopmental disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0016011 True owl:Class MONDO:0044230 biolink:NamedThing obsolete epiblepharon of upper 51d tmpte7i6ely_mondo_relaxed.owl epiblepharon of upper lid OMIM:131460 Obsoleted as it represents a trait or is a legacy entry True owl:Class GO:0051197 biolink:NamedThing obsolete positive regulation of coenzyme metabolic process OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpte7i6ely_mondo_relaxed.owl positive regulation of coenzyme metabolism|up-regulation of coenzyme metabolic process|upregulation of coenzyme metabolic process|stimulation of coenzyme metabolic process|positive regulation of coenzyme and prosthetic group metabolism|positive regulation of coenzyme and prosthetic group metabolic process|activation of coenzyme metabolic process|up regulation of coenzyme metabolic process True owl:Class MONDO:0035354 biolink:NamedThing obsolete IgG4-related systemic disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0017287 True https://github.com/monarch-initiative/mondo/issues/3539 owl:Class IAO:0000427 biolink:NamedThing antisymmetric property Use boolean value xsd:true to indicate that the property is an antisymmetric property tmpte7i6ely_mondo_relaxed.owl antisymmetric property part_of antisymmetric property xsd:true Alan Ruttenberg owl:AnnotationProperty MONDO:0020006 biolink:NamedThing obsolete rare hematologic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005570 True owl:Class MONDO:0004515 biolink:NamedThing obsolete olfactory neural tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0002722 True owl:Class MONDO:0015287 biolink:NamedThing obsolete vulvar intraepithelial neoplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0005198 True owl:Class MONDO:0009989 biolink:NamedThing obsolete enhanced S-cone syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0100288 Split into two terms. True https://github.com/monarch-initiative/mondo/issues/2684 owl:Class GO:0097756 biolink:NamedThing obsolete negative regulation of blood vessel diameter OBSOLETE. Any process that decreases the diameter of blood vessels. tmpte7i6ely_mondo_relaxed.owl negative regulation of vasodilation True owl:Class MONDO:0010593 biolink:NamedThing obsolete Frontometaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0015942 True owl:Class MONDO:0015242 biolink:NamedThing obsolete aspergillosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005657 True owl:Class MONDO:0004115 biolink:NamedThing obsolete gallbladder small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006219 True owl:Class MONDO:0001900 biolink:NamedThing obsolete central neurocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019134 True owl:Class MONDO:0001194 biolink:NamedThing obsolete rickettsialpox tmpte7i6ely_mondo_relaxed.owl MONDO:0019360 True owl:Class MONDO:0002484 biolink:NamedThing obsolete breast ductal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005590 True owl:Class MONDO:0004825 biolink:NamedThing obsolete encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019956 True owl:Class MONDO:0013019 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia, Pakistani type tmpte7i6ely_mondo_relaxed.owl MONDO:0019666 True owl:Class MONDO:0015442 biolink:NamedThing obsolete hereditary breast and ovarian cancer syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0003582 True owl:Class MONDO:0000855 biolink:NamedThing obsolete acromesomelic dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0019696 True owl:Class MONDO:0006289 biolink:NamedThing obsolete malignant epitheloid mesothelioma tmpte7i6ely_mondo_relaxed.owl EFO:1000351 True owl:Class MONDO:0002147 biolink:NamedThing obsolete Coffin-Siris syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015452 True owl:Class MONDO:0000579 biolink:NamedThing obsolete coronin-1A deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0014168 True owl:Class MONDO:0003815 biolink:NamedThing obsolete Cronkhite-Canada syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008283 True owl:Class MONDO:0044924 biolink:NamedThing obsolete acute myeloid leukemia with mutated CEBPA tmpte7i6ely_mondo_relaxed.owl MONDO:0017894 NCIT noted acute myeloid leukemia with mutated CEBPA and acute myeloid leukemia with CEBPA somatic mutations are synonyms, they should be merged. True https://github.com/monarch-initiative/mondo/issues/366 owl:Class MONDO:0002663 biolink:NamedThing obsolete systemic mastocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016586 True owl:Class MONDO:0008631 biolink:NamedThing obsolete renal agenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0018470 True owl:Class MONDO:0000235 biolink:NamedThing obsolete Rocky mountain spotted fever tmpte7i6ely_mondo_relaxed.owl MONDO:0019359 True owl:Class MONDO:0006772 biolink:NamedThing obsolete glycogen storage disease VIII tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010598 True https://github.com/monarch-initiative/mondo/issues/2648 owl:Class MONDO:0006194 biolink:NamedThing obsolete endometrial mucinous adenocarcinoma OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. tmpte7i6ely_mondo_relaxed.owl MONDO:0002747 True owl:Class MONDO:0018179 biolink:NamedThing obsolete bacterial toxic-shock syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0001881 True owl:Class MONDO:0005646 biolink:NamedThing obsolete anisakiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0015200 True owl:Class MONDO:0011495 biolink:NamedThing obsolete Langerhans-cell histiocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018310 True owl:Class MONDO:0000388 biolink:NamedThing obsolete anonychia congenita tmpte7i6ely_mondo_relaxed.owl hyponychia congenita MONDO:0008798 True owl:Class MONDO:0000439 biolink:NamedThing obsolete batten disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019262 True owl:Class MONDO:0016886 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 4 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0022762 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0005000 biolink:NamedThing obsolete chromophobe renal cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017885 True owl:Class MONDO:0005685 biolink:NamedThing obsolete bullous pemphigoid tmpte7i6ely_mondo_relaxed.owl MONDO:0019082 True owl:Class MONDO:0000109 biolink:NamedThing obsolete basal ganglia calcification, idiopathic tmpte7i6ely_mondo_relaxed.owl MONDO:0000720 True owl:Class MONDO:0007010 biolink:NamedThing obsolete uveitis tmpte7i6ely_mondo_relaxed.owl MONDO:0020283 True owl:Class MONDO:0000810 biolink:NamedThing obsolete DMD-related dilated cardiomyopathy OBSOLETE. A dilated cardiomyopathy that has material basis in mutations in the DMD gene. tmpte7i6ely_mondo_relaxed.owl MONDO:0010542 True owl:Class MONDO:0002753 biolink:NamedThing obsolete mucinous stomach adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006309 True owl:Class MONDO:0005686 biolink:NamedThing obsolete Bunyaviridae infectious disease tmpte7i6ely_mondo_relaxed.owl MONDO:0021641 True owl:Class MONDO:0008413 biolink:NamedThing obsolete schizophrenia tmpte7i6ely_mondo_relaxed.owl MONDO:0005090 True owl:Class MONDO:0002446 biolink:NamedThing obsolete hemoglobinopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0019050 True owl:Class MONDO:0003151 biolink:NamedThing obsolete movement disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005395 True owl:Class MONDO:0005727 biolink:NamedThing obsolete cystoisosporiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0018769 True owl:Class MONDO:0016569 biolink:NamedThing obsolete rare lymphatic malformation tmpte7i6ely_mondo_relaxed.owl MONDO:0002013 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/416 owl:Class MONDO:0002498 biolink:NamedThing obsolete glioblastoma multiforme tmpte7i6ely_mondo_relaxed.owl obsolete glioblastoma multiforme (disease) obsolete glioblastoma multiforme (disease) MONDO:0018177 True owl:Class MONDO:0000035 biolink:NamedThing obsolete glucocorticoid deficiency tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0017751 biolink:NamedThing obsolete Reye syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0005942 True owl:Class MONDO:0016084 biolink:NamedThing obsolete Crigler-Najjar syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009044 True owl:Class MONDO:0000024 biolink:NamedThing obsolete exostoses, multiple tmpte7i6ely_mondo_relaxed.owl MONDO:0005508 True owl:Class MONDO:0000604 biolink:NamedThing obsolete autonomic peripheral neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:0001300 True owl:Class MONDO:0016288 biolink:NamedThing obsolete glassy cell carcinoma of the cervix uteri tmpte7i6ely_mondo_relaxed.owl MONDO:0004542 True owl:Class MONDO:0005263 biolink:NamedThing obsolete unipolar depression tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0002009 True https://github.com/monarch-initiative/mondo/issues/2862 owl:Class GO:0044433 biolink:NamedThing obsolete cytoplasmic vesicle part OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. tmpte7i6ely_mondo_relaxed.owl GO:0031410 True owl:Class MONDO:0006016 biolink:NamedThing obsolete West Nile encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019376 True owl:Class MONDO:0019247 biolink:NamedThing obsolete combined hyperlipidemia (including acquired and inherited) tmpte7i6ely_mondo_relaxed.owl MONDO:0001807 True owl:Class MONDO:0002538 biolink:NamedThing obsolete progressive muscular atrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0018687 True owl:Class MONDO:0004610 biolink:NamedThing obsolete multiple carboxylase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0015454 True owl:Class MONDO:0000897 biolink:NamedThing obsolete chronic myelomonocytic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0020311 True owl:Class GO:1900403 biolink:NamedThing obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular amino acid synthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid formation by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid biosynthesis by negative regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0000982 biolink:NamedThing obsolete Brown's tendon sheath syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0014624 True owl:Class MONDO:0019966 biolink:NamedThing obsolete thoracic outlet syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0005979 True owl:Class MONDO:0000354 biolink:NamedThing obsolete JMP syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017959 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0016926 biolink:NamedThing obsolete Geleophysic dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0000127 True owl:Class MONDO:0003226 biolink:NamedThing obsolete Nelson syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016035 True owl:Class MONDO:0002213 biolink:NamedThing obsolete tularemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018077 True owl:Class MONDO:0003149 biolink:NamedThing obsolete aggressive systemic mastocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0020333 True owl:Class MONDO:0018350 biolink:NamedThing obsolete malignant tumor of penis tmpte7i6ely_mondo_relaxed.owl MONDO:0001325 True owl:Class MONDO:0000038 biolink:NamedThing obsolete hyper-IgE recurrent infection syndrome tmpte7i6ely_mondo_relaxed.owl See text of OMIM 147060. MONDO:0018037 True owl:Class MONDO:0005442 biolink:NamedThing obsolete type 1 diabetes nephropathy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0005016 True https://github.com/monarch-initiative/mondo/issues/3277 owl:Class MONDO:0000010 biolink:NamedThing obsolete cerebrooculofacioskeletal syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008926 True owl:Class MONDO:0017678 biolink:NamedThing obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature.. tmpte7i6ely_mondo_relaxed.owl disease with punctate palmoplantar hyperkeratosis as a major feature MONDO:outOfScope This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. Orphanet:308023|UMLS:CN203565 True https://github.com/monarch-initiative/mondo/issues/1521|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0001960 biolink:NamedThing obsolete Alpers syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008758 True owl:Class MONDO:0003385 biolink:NamedThing obsolete cervical clear cell adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006135 True owl:Class MONDO:0004300 biolink:NamedThing obsolete intracortical osteogenic sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002631 True owl:Class MONDO:0006370 biolink:NamedThing obsolete pineoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016722 True owl:Class GO:0043901 biolink:NamedThing obsolete negative regulation of multi-organism process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0019352 biolink:NamedThing obsolete sporotrichosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005968 True owl:Class FOODON:03400004 biolink:NamedThing obsolete: product type, other tmpte7i6ely_mondo_relaxed.owl http://purl.obolibrary.org/obo/FOODON_00001002 http://www.langual.org/langual_thesaurus.asp?termid=A0004 LanguaL curation note: Used only if the product does not fall under any of the major product types listed. [FDA CFSAN 1995] True http://langual.org owl:Class MONDO:0000164 biolink:NamedThing obsolete corneal dystrophy, Fuchs endothelial tmpte7i6ely_mondo_relaxed.owl MONDO:0005321 True owl:Class MONDO:0000445 biolink:NamedThing obsolete neuroacanthocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016987 True owl:Class MONDO:0003457 biolink:NamedThing obsolete ovarian serous adenofibroma tmpte7i6ely_mondo_relaxed.owl MONDO:0006340 True owl:Class MONDO:0007069 biolink:NamedThing obsolete Adie syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018690 True owl:Class MONDO:0015866 biolink:NamedThing obsolete malignant tumor of fallopian tubes tmpte7i6ely_mondo_relaxed.owl MONDO:0002158 True owl:Class MONDO:0018194 biolink:NamedThing obsolete sex cord-stromal tumor of testis tmpte7i6ely_mondo_relaxed.owl MONDO:0003125 True owl:Class MONDO:0004581 biolink:NamedThing obsolete localized scleroderma tmpte7i6ely_mondo_relaxed.owl MONDO:0019562 True owl:Class MONDO:0005793 biolink:NamedThing obsolete herpes simplex virus keratitis tmpte7i6ely_mondo_relaxed.owl MONDO:0015288 True owl:Class MONDO:0003613 biolink:NamedThing obsolete diffuse peritoneal leiomyomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0006183 True owl:Class MONDO:0019850 biolink:NamedThing obsolete precocious puberty tmpte7i6ely_mondo_relaxed.owl MONDO:0000088 True owl:Class MONDO:0006494 biolink:NamedThing obsolete thyroid disease tmpte7i6ely_mondo_relaxed.owl MONDO:0003240 True owl:Class GO:0044441 biolink:NamedThing obsolete ciliary part OBSOLETE. Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpte7i6ely_mondo_relaxed.owl cilium part|microtubule-based flagellum part|flagellum part|flagellum component|flagellar part|cilial part GO:0005929 True owl:Class MONDO:0000505 biolink:NamedThing obsolete small cell neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0000402 True owl:Class MONDO:0015156 biolink:NamedThing obsolete typhus-group rickettsiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0001246 True owl:Class MONDO:0000157 biolink:NamedThing obsolete episodic pain syndrome, familial tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006338 biolink:NamedThing obsolete ovarian germ cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0011366 True owl:Class GO:0044437 biolink:NamedThing obsolete vacuolar part OBSOLETE. Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. tmpte7i6ely_mondo_relaxed.owl vacuole component GO:0005773 True owl:Class MONDO:0006473 biolink:NamedThing obsolete tracheal squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0001419 True owl:Class MONDO:0010240 biolink:NamedThing obsolete androgen insensitivity syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019154 True owl:Class MONDO:0001354 biolink:NamedThing obsolete acute endophthalmitis tmpte7i6ely_mondo_relaxed.owl MONDO:0017202 True owl:Class GO:1900392 biolink:NamedThing obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0001958 biolink:NamedThing obsolete autosomal dominant cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0020380 True owl:Class MONDO:0002767 biolink:NamedThing obsolete protein C deficiency OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. tmpte7i6ely_mondo_relaxed.owl MONDO:0019145 True owl:Class MONDO:0006695 biolink:NamedThing obsolete cervical rib syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007303 True owl:Class MONDO:0015633 biolink:NamedThing obsolete Bazex syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010535 True https://github.com/monarch-initiative/mondo/issues/3693 owl:Class MONDO:0000719 biolink:NamedThing obsolete Baraitser-winter syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017579 True owl:Class MONDO:0018345 biolink:NamedThing obsolete T+ B+ severe combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0044201|MONDO:0044200 True owl:Class MONDO:0006750 biolink:NamedThing obsolete Erdheim-Chester disease tmpte7i6ely_mondo_relaxed.owl MONDO:0018153 True owl:Class MONDO:0000183 biolink:NamedThing obsolete hypertrophic osteoarthropathy, primary tmpte7i6ely_mondo_relaxed.owl MONDO:0016620 True owl:Class MONDO:0003449 biolink:NamedThing obsolete syringocystadenoma papilliferum tmpte7i6ely_mondo_relaxed.owl MONDO:0006439 True owl:Class MONDO:0002019 biolink:NamedThing obsolete hypohidrotic ectodermal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0016535 True owl:Class MONDO:0002890 biolink:NamedThing obsolete gastrointestinal adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006180 True owl:Class MONDO:0005329 biolink:NamedThing obsolete vascular sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016982 True owl:Class MONDO:0000454 biolink:NamedThing obsolete multiple synostoses syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017923 True owl:Class OIO:shorthand biolink:NamedThing shorthand tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005604 biolink:NamedThing obsolete plasma cell leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018689 True owl:Class MONDO:0004002 biolink:NamedThing obsolete pancreatoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019035 True owl:Class MONDO:0000585 biolink:NamedThing obsolete Good syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015696 True owl:Class MONDO:0000580 biolink:NamedThing obsolete CD40 ligand deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0010626 True owl:Class MONDO:0018917 biolink:NamedThing obsolete Marfan syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007947 True owl:Class MONDO:0008077 biolink:NamedThing obsolete neurofibromatosis, type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0018975 True owl:Class MONDO:0000122 biolink:NamedThing obsolete facial paresis, hereditary congenital tmpte7i6ely_mondo_relaxed.owl MONDO:0011090 True owl:Class MONDO:0000869 biolink:NamedThing obsolete congenital fibrosis of the extraocular muscles tmpte7i6ely_mondo_relaxed.owl MONDO:0007614 True owl:Class MONDO:0017707 biolink:NamedThing obsolete disorder of lipid metabolism tmpte7i6ely_mondo_relaxed.owl MONDO:0002525 True owl:Class MONDO:0016714 biolink:NamedThing obsolete ganglioneuroblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005035 True owl:Class MONDO:0002344 biolink:NamedThing obsolete corneal dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0018102 True owl:Class MONDO:0100145 biolink:NamedThing obsolete presymptomatic COVID-19 infection OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on. tmpte7i6ely_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class GO:0100051 biolink:NamedThing obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates meiotic nuclear division. tmpte7i6ely_mondo_relaxed.owl True owl:Class IAO:0000700 biolink:NamedThing has ontology root term Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root. tmpte7i6ely_mondo_relaxed.owl has ontology root term Nicolas Matentzoglu owl:AnnotationProperty MONDO:0002294 biolink:NamedThing obsolete gangliocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016730 True owl:Class MONDO:0005455 biolink:NamedThing obsolete cholangiocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019087 True owl:Class MONDO:0001865 biolink:NamedThing obsolete autoimmune polyendocrinopathy syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017278 True owl:Class MONDO:0005431 biolink:NamedThing obsolete toxic epidermal necrolysis tmpte7i6ely_mondo_relaxed.owl MONDO:0019810 True owl:Class MONDO:0000537 biolink:NamedThing obsolete gastrointestinal carcinoma tmpte7i6ely_mondo_relaxed.owl obsolete gastrointestinal carcinoma (disease) obsolete gastrointestinal carcinoma (disease) MONDO:0006181 True owl:Class MONDO:0003071 biolink:NamedThing obsolete epidermolysis bullosa simplex tmpte7i6ely_mondo_relaxed.owl MONDO:0017610 True owl:Class MONDO:0003018 biolink:NamedThing obsolete myotonic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0016107 True owl:Class MONDO:0034082 biolink:NamedThing obsolete necrobiosis lipoidica tmpte7i6ely_mondo_relaxed.owl MONDO:0006583 True owl:Class MONDO:0000848 biolink:NamedThing obsolete axial osteomalacia tmpte7i6ely_mondo_relaxed.owl MONDO:0007181 True owl:Class MONDO:0022314 biolink:NamedThing obsolete Hernandez Aguirre-Negrete syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016290 True owl:Class MONDO:0001026 biolink:NamedThing obsolete bacterial infectious disease OBSOLETE. A infectious disease involving the Bacteria. tmpte7i6ely_mondo_relaxed.owl Bacteria infection|infections, Bacteria MONDO:0005113 True owl:Class MONDO:0023310 biolink:NamedThing obsolete hemiplegic migraine tmpte7i6ely_mondo_relaxed.owl MONDO:0018925 True owl:Class MONDO:0008190 biolink:NamedThing obsolete human papillomavirus type 18 integration site 1 tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/hgnc/5166 True owl:Class MONDO:0021252 biolink:NamedThing obsolete lung hilum neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0003639 True owl:Class MONDO:0044226 biolink:NamedThing obsolete defective interfering particle induction, control of tmpte7i6ely_mondo_relaxed.owl defective interfering particle induction, control OF|vesicular stomatitis Virus defective interfering particle repressor|homologous viral interference|Dipi, control of HGNC:12678 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0001696 biolink:NamedThing obsolete Ehlers-Danlos syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0020066 True owl:Class MONDO:0016753 biolink:NamedThing obsolete benign schwannoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002546 True owl:Class MONDO:0021188 biolink:NamedThing obsolete hemangiopericytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005094 True owl:Class MONDO:0016916 biolink:NamedThing obsolete partial deletion of the long arm of chromosome 18 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011147 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0007076 biolink:NamedThing obsolete ocular albinism with sensorineural deafness tmpte7i6ely_mondo_relaxed.owl MONDO:0018138 True owl:Class GO:0097755 biolink:NamedThing obsolete positive regulation of blood vessel diameter OBSOLETE. Any process that increases the diameter of blood vessels. tmpte7i6ely_mondo_relaxed.owl positive regulation of vasodilation True owl:Class MONDO:0024460 biolink:NamedThing obsolete Herpesviridae infections tmpte7i6ely_mondo_relaxed.owl MONDO:0005794 True owl:Class MONDO:0019081 biolink:NamedThing obsolete alopecia universalis tmpte7i6ely_mondo_relaxed.owl MONDO:0008757 True owl:Class MONDO:0006511 biolink:NamedThing obsolete developmental dysplasia of the hip tmpte7i6ely_mondo_relaxed.owl MONDO:0000158 True owl:Class MONDO:0008117 biolink:NamedThing obsolete oculopharyngodistal myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0020793 obsoleted as it was ambiguous as to whether it references the generic grouping or type 1 True owl:Class MONDO:0003267 biolink:NamedThing obsolete myxopapillary ependymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016699 True owl:Class MONDO:0000168 biolink:NamedThing obsolete mental retardation, X-linked, nonsyndromic tmpte7i6ely_mondo_relaxed.owl MONDO:0019181 True owl:Class MONDO:0005548 biolink:NamedThing obsolete malignant rhabdoid tumour tmpte7i6ely_mondo_relaxed.owl MONDO:0002728 True owl:Class MONDO:0010195 biolink:NamedThing obsolete Weissenbacher-Zweymuller syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008490 Obsoleted in OMIM and Orphanet. True https://github.com/monarch-initiative/mondo/issues/1689 owl:Class MONDO:0000574 biolink:NamedThing obsolete CD45 deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0015702 True owl:Class MONDO:0015693 biolink:NamedThing obsolete composite lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005710 True owl:Class MONDO:0000759 biolink:NamedThing obsolete acrorenal syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007059 True owl:Class MONDO:0004424 biolink:NamedThing obsolete familial glomangioma tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0007672 True https://github.com/monarch-initiative/mondo/issues/3168 owl:Class MONDO:0018934 biolink:NamedThing obsolete mucopolysaccharidosis type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0001586 True owl:Class GO:2001274 biolink:NamedThing obsolete negative regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus. tmpte7i6ely_mondo_relaxed.owl negative regulation of cellular glucose import in response to insulin stimulus True owl:Class GO:0044444 biolink:NamedThing obsolete cytoplasmic part OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpte7i6ely_mondo_relaxed.owl cytoplasm component GO:0005737 True owl:Class ENVO:00002004 biolink:NamedThing obsolete physical object of mesoscopic geological size An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0003560 biolink:NamedThing obsolete adenosquamous pancreas carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005614 True owl:Class MONDO:0000619 biolink:NamedThing obsolete triple-receptor negative breast cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0005494 True owl:Class MONDO:0007926 biolink:NamedThing obsolete Waldenstrom macroglobulinemia tmpte7i6ely_mondo_relaxed.owl MONDO:0100280 Split into generic and type 1 subtype from OMIM (OMIM:153600). True https://github.com/monarch-initiative/mondo/issues/2562 owl:Class MONDO:0000197 biolink:NamedThing obsolete singleton-Merten syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008429 True owl:Class MONDO:0005268 biolink:NamedThing obsolete Hashimoto's thyroiditis tmpte7i6ely_mondo_relaxed.owl MONDO:0007699 True owl:Class MONDO:0002348 biolink:NamedThing obsolete chondrodysplasia punctata tmpte7i6ely_mondo_relaxed.owl MONDO:0019701 True owl:Class GO:2000531 biolink:NamedThing obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0003148 biolink:NamedThing obsolete SM-AHNMD tmpte7i6ely_mondo_relaxed.owl MONDO:0020332 True https://github.com/monarch-initiative/mondo/issues/1270 owl:Class MONDO:0016246 biolink:NamedThing obsolete adenocarcinoma of ovary tmpte7i6ely_mondo_relaxed.owl MONDO:0002752 True owl:Class MONDO:0030965 biolink:NamedThing obsolete olmsted syndrome 2 tmpte7i6ely_mondo_relaxed.owl duplicate True https://github.com/monarch-initiative/mondo/pull/3056 owl:Class GO:0072361 biolink:NamedThing obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0005014 biolink:NamedThing obsolete dermatomyositis OBSOLETE. Inflammation of the skin and muscle. tmpte7i6ely_mondo_relaxed.owl MONDO:0016367 True owl:Class MONDO:0016694 biolink:NamedThing obsolete Pituicytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006372 True owl:Class MONDO:0020802 biolink:NamedThing obsolete basal cell cancer OBSOLETE. A neoplasm composed of basal cells that metastasizes to other anatomic sites. tmpte7i6ely_mondo_relaxed.owl MONDO:0020804 Obsoleted as it is equivalent to basal cell carcinoma. See https://github.com/monarch-initiative/mondo/issues/2495 True owl:Class MONDO:0018297 biolink:NamedThing obsolete hypotonia-speech impairment-severe cognitive delay syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0014176 True https://github.com/monarch-initiative/mondo/issues/3417 owl:Class MONDO:0000720 biolink:NamedThing obsolete basal ganglia calcification tmpte7i6ely_mondo_relaxed.owl MONDO:0008947 True owl:Class MONDO:0000012 biolink:NamedThing obsolete choreoathetosis tmpte7i6ely_mondo_relaxed.owl obsolete choreoathetosis (disease) obsolete choreoathetosis (disease) True owl:Class MONDO:0003498 biolink:NamedThing obsolete gallbladder squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006220 True owl:Class MONDO:0008191 biolink:NamedThing obsolete human papillomavirus type 18 integration site 2 tmpte7i6ely_mondo_relaxed.owl http://identifiers.org/hgnc/5167 True owl:Class MONDO:0005285 biolink:NamedThing obsolete kidney stone tmpte7i6ely_mondo_relaxed.owl MONDO:0008171 True owl:Class MONDO:0000729 biolink:NamedThing obsolete congenital ptosis tmpte7i6ely_mondo_relaxed.owl MONDO:0008340 True owl:Class MONDO:0033981 biolink:NamedThing obsolete krt1-related diffuse nonepidermolytic keratoderma tmpte7i6ely_mondo_relaxed.owl MONDO:0010962 True owl:Class MONDO:0009289 biolink:NamedThing obsolete glycogen storage disease IC tmpte7i6ely_mondo_relaxed.owl MONDO:0009288 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i True owl:Class MONDO:0005637 biolink:NamedThing obsolete adult-onset Still disease tmpte7i6ely_mondo_relaxed.owl obsolete adult-onset Still's disease MONDO:0019355 True owl:Class MONDO:0007786 biolink:NamedThing obsolete hypertrichosis lanuginosa congenita tmpte7i6ely_mondo_relaxed.owl MONDO:0016381 True owl:Class MONDO:0002589 biolink:NamedThing obsolete thymoma type AB tmpte7i6ely_mondo_relaxed.owl MONDO:0016975 True owl:Class MONDO:0015671 biolink:NamedThing obsolete diphtheria tmpte7i6ely_mondo_relaxed.owl MONDO:0005504 True owl:Class MONDO:0002591 biolink:NamedThing obsolete dendritic cell thymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016974 True owl:Class MONDO:0020515 biolink:NamedThing obsolete thymic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006451 True owl:Class MONDO:0001140 biolink:NamedThing obsolete Edwards syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018071 True owl:Class MONDO:0018399 biolink:NamedThing obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism tmpte7i6ely_mondo_relaxed.owl MONDO:0018398 True https://github.com/monarch-initiative/mondo/issues/414|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0020150 biolink:NamedThing obsolete obsolete rare palpebral, lacrimal system and conjunctival disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Obsolete in Orphanet UMLS:CN207025|Orphanet:98559 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0002932 biolink:NamedThing obsolete conjunctival disease tmpte7i6ely_mondo_relaxed.owl MONDO:0006170 True owl:Class MONDO:0017873 biolink:NamedThing obsolete Ebola hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0005737 True owl:Class MONDO:0100334 biolink:NamedThing obsolete viral infectious disease or sequela tmpte7i6ely_mondo_relaxed.owl duplicate MONDO:0100321 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054 owl:Class MONDO:0002394 biolink:NamedThing obsolete Leydig cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006266 True owl:Class MONDO:0001477 biolink:NamedThing obsolete aniridia tmpte7i6ely_mondo_relaxed.owl MONDO:0019172 True owl:Class MONDO:0000048 biolink:NamedThing obsolete immunoglobulin A deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0001341 True owl:Class GO:0100070 biolink:NamedThing obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0020566 biolink:NamedThing obsolete Klatskin tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0003345 True owl:Class MONDO:0017908 biolink:NamedThing obsolete hyperekplexia tmpte7i6ely_mondo_relaxed.owl MONDO:0017658 True owl:Class MONDO:0023616 biolink:NamedThing obsolete familial leiomyomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0007888 Term was retired in GARD. True https://github.com/monarch-initiative/mondo/issues/1723 owl:Class MONDO:0000029 biolink:NamedThing obsolete corticosterone methyloxidase deficiency tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006114 biolink:NamedThing obsolete bladder squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002760 True owl:Class MONDO:0015189 biolink:NamedThing obsolete adenocarcinoma of small instestine OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. tmpte7i6ely_mondo_relaxed.owl MONDO:0003198 True owl:Class MONDO:0000835 biolink:NamedThing obsolete ischemic bone disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005380 True owl:Class OIO:hasRelatedSynonym biolink:NamedThing has_related_synonym tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000112 biolink:NamedThing obsolete cardioencephalomyopathy, fatal infantile tmpte7i6ely_mondo_relaxed.owl MONDO:0015487 True owl:Class MONDO:0005171 biolink:NamedThing obsolete chronic myeloproliferative disorder OBSOLETE. Chronic form of myeloproliferative neoplasm. tmpte7i6ely_mondo_relaxed.owl MONDO:0020076 True owl:Class MONDO:0015747 biolink:NamedThing obsolete Amish infantile epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0012189 True owl:Class GO:1900389 biolink:NamedThing obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import. tmpte7i6ely_mondo_relaxed.owl regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0000217 biolink:NamedThing obsolete Frontometaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0010593 True owl:Class MONDO:0018836 biolink:NamedThing obsolete subcorneal pustular dermatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0006614 True owl:Class MONDO:0002148 biolink:NamedThing obsolete sphingolipidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019255 True owl:Class MONDO:0000165 biolink:NamedThing obsolete ectodermal dysplasia-syndactyly syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0013311 True owl:Class MONDO:0003132 biolink:NamedThing obsolete rapidly progressive glomerulonephritis tmpte7i6ely_mondo_relaxed.owl MONDO:0017236 True owl:Class MONDO:0003533 biolink:NamedThing obsolete gastric papillary adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006228 True owl:Class MONDO:0016737 biolink:NamedThing obsolete ganglioneuroma tmpte7i6ely_mondo_relaxed.owl MONDO:0005033 True owl:Class MONDO:0010071 biolink:NamedThing obsolete spondyloenchondrodysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0011939 OMIM merged this term. True https://github.com/monarch-initiative/mondo/issues/1687 owl:Class MONDO:0011278 biolink:NamedThing obsolete bile duct cysts tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0018805 True https://github.com/monarch-initiative/mondo/issues/3613 owl:Class MONDO:0019217 biolink:NamedThing obsolete inborn disorder of urea cycle metabolism and ammonia detoxification tmpte7i6ely_mondo_relaxed.owl MONDO:0004739 duplicate True https://github.com/monarch-initiative/mondo/issues/1572 owl:Class IAO:0006011 biolink:NamedThing may be identical to A annotation relationship between two terms in an ontology that may refer to the same (natural) type but where more evidence is required before terms are merged. tmpte7i6ely_mondo_relaxed.owl #40 VFB Edges asserting this should be annotated with to record evidence supporting the assertion and its provenance. may be identical to David Osumi-Sutherland owl:AnnotationProperty MONDO:0000887 biolink:NamedThing obsolete hepatic veno-occlusive disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019514 True owl:Class MONDO:0003794 biolink:NamedThing obsolete mediastinal neurilemmoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004398 True owl:Class MONDO:0005228 biolink:NamedThing obsolete anaplastic large cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020325 True owl:Class MONDO:0003580 biolink:NamedThing obsolete embryonal testis carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006446 True owl:Class MONDO:0000277 biolink:NamedThing obsolete Argentine hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017874 True owl:Class MONDO:0002439 biolink:NamedThing obsolete stress polycythemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019538 True owl:Class MONDO:0013667 biolink:NamedThing obsolete myelodysplastic syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018881 True owl:Class MONDO:0023037 biolink:NamedThing obsolete elongated styloid process syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0023035 True owl:Class MONDO:0000350 biolink:NamedThing obsolete Charcot-Marie-Tooth disease intermediate type tmpte7i6ely_mondo_relaxed.owl MONDO:0018778 True owl:Class MONDO:0100136 biolink:NamedThing obsolete Fanconia anemia complementation group M OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene. tmpte7i6ely_mondo_relaxed.owl FANCM Fanconi anemia|Fanconi anemia caused by mutation in FANCM http://purl.obolibrary.org/obo/MONDO_0019391 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/1636 owl:Class GO:0035949 biolink:NamedThing obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter|positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter True owl:Class MONDO:0000175 biolink:NamedThing obsolete ataxia-telangiectasia-like disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0011457 True owl:Class MONDO:0000102 biolink:NamedThing obsolete vertigo tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0012372 biolink:NamedThing obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features tmpte7i6ely_mondo_relaxed.owl MONDO:0007617 True owl:Class MONDO:0006822 biolink:NamedThing obsolete Klatskin's tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0003345 True owl:Class MONDO:0001796 biolink:NamedThing obsolete epidermodysplasia verruciformis tmpte7i6ely_mondo_relaxed.owl MONDO:0009176 True owl:Class MONDO:0003981 biolink:NamedThing obsolete cervix small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006142 True owl:Class MONDO:0006379 biolink:NamedThing obsolete pleural mesothelioma tmpte7i6ely_mondo_relaxed.owl obsolete pleural mesothelioma (disease) obsolete pleural mesothelioma (disease) MONDO:0003308 True owl:Class MONDO:0003167 biolink:NamedThing obsolete pleomorphic xanthoastrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016690 True owl:Class MONDO:0005428 biolink:NamedThing obsolete pemphigus vulgaris tmpte7i6ely_mondo_relaxed.owl MONDO:0008219 True owl:Class MONDO:0019492 biolink:NamedThing obsolete desmoid tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0007608 True owl:Class MONDO:0001970 biolink:NamedThing obsolete hypokalemic periodic paralysis tmpte7i6ely_mondo_relaxed.owl MONDO:0008223 True owl:Class MONDO:0000013 biolink:NamedThing obsolete choroidal dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0008982 True owl:Class MONDO:0005305 biolink:NamedThing obsolete epistaxis tmpte7i6ely_mondo_relaxed.owl HP:0000421 True https://github.com/monarch-initiative/mondo/issues/924 owl:Class MONDO:0005889 biolink:NamedThing obsolete orthomyxoviridae infectious disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0005812 True https://github.com/monarch-initiative/mondo/issues/3204 owl:Class MONDO:0004655 biolink:NamedThing obsolete acute megakaryoblastic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018872 True owl:Class MONDO:0019381 biolink:NamedThing obsolete eastern equine encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0005736 True owl:Class MONDO:0001948 biolink:NamedThing obsolete Riedel's fibrosing thyroiditis tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0018992 True https://github.com/monarch-initiative/mondo/issues/2980 owl:Class MONDO:0010291 biolink:NamedThing obsolete androgen insensitivity syndrome due to coactivator deficiency tmpte7i6ely_mondo_relaxed.owl androgen insensitivity syndrome due to coactivator deficiency MONDO:0019154 True owl:Class MONDO:0019798 biolink:NamedThing obsolete acute hepatic porphyria tmpte7i6ely_mondo_relaxed.owl MONDO:0002520 True owl:Class MONDO:0011623 biolink:NamedThing obsolete spinocerebellar ataxia, autosomal recessive 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0018996 duplicate True https://github.com/monarch-initiative/mondo/issues/48 owl:Class MONDO:0008851 biolink:NamedThing obsolete autism tmpte7i6ely_mondo_relaxed.owl MONDO:0005260 True owl:Class MONDO:0017208 biolink:NamedThing obsolete intermediate uveitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006806 True owl:Class MONDO:0000366 biolink:NamedThing obsolete glycogen storage disease IX tmpte7i6ely_mondo_relaxed.owl MONDO:0018251 True owl:Class MONDO:0003239 biolink:NamedThing obsolete Camurati-Engelmann disease tmpte7i6ely_mondo_relaxed.owl MONDO:0007542 True owl:Class MONDO:0022651 biolink:NamedThing obsolete cardiomyopathy dilated with conduction defect type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0007269 duplicate True https://github.com/monarch-initiative/mondo/issues/2328 owl:Class GO:2001275 biolink:NamedThing obsolete positive regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus. tmpte7i6ely_mondo_relaxed.owl positive regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0000019 biolink:NamedThing obsolete ectodermal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0019287 True owl:Class MONDO:0006101 biolink:NamedThing obsolete Bartholin gland squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004053 True owl:Class MONDO:0018519 biolink:NamedThing obsolete squamous cell carcinoma of the anal canal tmpte7i6ely_mondo_relaxed.owl MONDO:0004132 True owl:Class MONDO:0015190 biolink:NamedThing obsolete leiomyosarcoma of small intestine tmpte7i6ely_mondo_relaxed.owl MONDO:0003360 True owl:Class GO:0072367 biolink:NamedThing obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of lipid transport by regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0015423 biolink:NamedThing obsolete anaplastic thyroid carcinoma OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. tmpte7i6ely_mondo_relaxed.owl MONDO:0006468 True owl:Class MONDO:0000011 biolink:NamedThing obsolete chondrodysplasia tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0005521 biolink:NamedThing obsolete shigellosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019345 True owl:Class GO:0044422 biolink:NamedThing obsolete organelle part OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl GO:0043226 True owl:Class MONDO:0001344 biolink:NamedThing obsolete neonatal diabetes mellitus tmpte7i6ely_mondo_relaxed.owl MONDO:0016391 True owl:Class MONDO:0000145 biolink:NamedThing obsolete premature aging syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000034 biolink:NamedThing obsolete glomerulopathy with fibronectin deposits tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0005123 biolink:NamedThing obsolete Hibiscus chlorotic ringspot virus infection tmpte7i6ely_mondo_relaxed.owl EFO:0000782 True owl:Class MONDO:0002094 biolink:NamedThing obsolete conjunctival squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006173 True owl:Class MONDO:0006110 biolink:NamedThing obsolete bladder adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002751 True owl:Class MONDO:0015202 biolink:NamedThing obsolete babesiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005661 True owl:Class MONDO:0004138 biolink:NamedThing obsolete maxillary sinus adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006297 True owl:Class MONDO:0000059 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria tmpte7i6ely_mondo_relaxed.owl MONDO:0016826 True owl:Class MONDO:0005400 biolink:NamedThing obsolete ventricular fibrillation tmpte7i6ely_mondo_relaxed.owl MONDO:0000190 True owl:Class GO:0100017 biolink:NamedThing obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates single organismal cell-cell adhesion. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0002284 biolink:NamedThing obsolete gangliosidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017719 True owl:Class MONDO:0000825 biolink:NamedThing obsolete hypomyelinating leukodystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0019046 True owl:Class MONDO:0019523 biolink:NamedThing obsolete Walker-Warburg syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0000171 These are considered equivalent in OMIM. True https://github.com/monarch-initiative/mondo/issues/1223 owl:Class MONDO:0021971 biolink:NamedThing obsolete Baraitser Rodeck garner syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009041 True owl:Class MONDO:0000267 biolink:NamedThing obsolete cryptogenic organizing pneumonia tmpte7i6ely_mondo_relaxed.owl MONDO:0015264 True owl:Class MONDO:0003511 biolink:NamedThing obsolete testicular germ cell cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0010108 True owl:Class MONDO:0019785 biolink:NamedThing obsolete 15q24 microdeletion syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0013256 True owl:Class MONDO:0001111 biolink:NamedThing obsolete thrombotic thrombocytopenic purpura tmpte7i6ely_mondo_relaxed.owl MONDO:0018896 True owl:Class MONDO:0004809 biolink:NamedThing obsolete cannabis abuse tmpte7i6ely_mondo_relaxed.owl MONDO:0005689 True owl:Class MONDO:0005474 biolink:NamedThing obsolete non-small cell lung adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005061 True owl:Class MONDO:0003838 biolink:NamedThing obsolete malignant ACTH producing neoplasm of pituitary gland tmpte7i6ely_mondo_relaxed.owl MONDO:0006069 True owl:Class MONDO:0002180 biolink:NamedThing obsolete gestational choriocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020550 True owl:Class MONDO:0019863 biolink:NamedThing obsolete acro-renal-ocular syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0011812 These terms are equivalent. True https://github.com/monarch-initiative/mondo/issues/1201 owl:Class dc:date biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002983 biolink:NamedThing obsolete neuromuscular junction disease tmpte7i6ely_mondo_relaxed.owl MONDO:0020124 True owl:Class MONDO:0000074 biolink:NamedThing obsolete neurodegeneration with brain iron accumulation tmpte7i6ely_mondo_relaxed.owl MONDO:0018307 True owl:Class MONDO:0044250 biolink:NamedThing obsolete tongue curling, folding, or rolling tmpte7i6ely_mondo_relaxed.owl tongue curling, folding, or rolling|cloverleaf tongue|trefoil tongue OMIM:189300 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0006819 biolink:NamedThing obsolete kernicterus tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0018477 True https://github.com/monarch-initiative/mondo/issues/3604 owl:Class MONDO:0000865 biolink:NamedThing obsolete congenital fiber-type disproportion tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0009711 True https://github.com/monarch-initiative/mondo/issues/2534 owl:Class MONDO:0000219 biolink:NamedThing obsolete uncombable hair syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008621 True owl:Class MONDO:0003855 biolink:NamedThing obsolete immature teratoma of ovary tmpte7i6ely_mondo_relaxed.owl MONDO:0018369 True owl:Class MONDO:0007394 biolink:NamedThing obsolete craniodiaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0009031 True owl:Class RO:0002161 biolink:NamedThing never in taxon tmpte7i6ely_mondo_relaxed.owl RO:0002161 True True never_in_taxon owl:AnnotationProperty MONDO:0003559 biolink:NamedThing obsolete cervical adenosquamous carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006134 True owl:Class MONDO:0018140 biolink:NamedThing obsolete burning mouth syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0006687 True owl:Class MONDO:0003436 biolink:NamedThing obsolete lung oat cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0008433 Duplicate True https://github.com/monarch-initiative/mondo/issues/1579 owl:Class MONDO:0000547 biolink:NamedThing obsolete ovarian serous carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005211 True owl:Class MONDO:0000318 biolink:NamedThing obsolete wound botulism tmpte7i6ely_mondo_relaxed.owl MONDO:0015803 True owl:Class MONDO:0000195 biolink:NamedThing obsolete atrial standstill tmpte7i6ely_mondo_relaxed.owl MONDO:0015281 True owl:Class MONDO:0008032 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1A tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0012215 True https://github.com/monarch-initiative/mondo/issues/2733 owl:Class MONDO:0000558 biolink:NamedThing obsolete spastic ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0017845 True owl:Class MONDO:0000714 biolink:NamedThing obsolete crest syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019563 True owl:Class MONDO:0019442 biolink:NamedThing obsolete congenital toxoplasmosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005715 True owl:Class MONDO:0004476 biolink:NamedThing obsolete thymus sarcomatoid carcinoma OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. tmpte7i6ely_mondo_relaxed.owl MONDO:0006452 True owl:Class MONDO:0006205 biolink:NamedThing obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0021039 True owl:Class MONDO:0010445 biolink:NamedThing obsolete McLeod syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018945 True owl:Class GO:0120038 biolink:NamedThing obsolete plasma membrane bounded cell projection part OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon. tmpte7i6ely_mondo_relaxed.owl GO:0120025 True owl:Class MONDO:0013816 biolink:NamedThing obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques tmpte7i6ely_mondo_relaxed.owl MONDO:0019014 There appeared to be duplicate terms from Orphanet and OMIM, which should be combined into one class. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0000906 biolink:NamedThing obsolete Alzheimer disease 5 tmpte7i6ely_mondo_relaxed.owl obsolete Alzheimer's disease 5 MONDO:0011194 True owl:Class MONDO:0017702 biolink:NamedThing obsolete glycerol kinase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0010613 True owl:Class MONDO:0002421 biolink:NamedThing obsolete chorioangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006375 True owl:Class MONDO:0012201 biolink:NamedThing obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum tmpte7i6ely_mondo_relaxed.owl MONDO:0011806 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1702 owl:Class MONDO:0020166 biolink:NamedThing obsolete telecanthus tmpte7i6ely_mondo_relaxed.owl MONDO:0008537 True owl:Class GO:0100024 biolink:NamedThing obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates carbohydrate metabolic process. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0011666 biolink:NamedThing obsolete maturity-onset diabetes of the young tmpte7i6ely_mondo_relaxed.owl MONDO:0018911 True owl:Class MONDO:0017889 biolink:NamedThing obsolete mucinous tubular and spindle cell renal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003011 True owl:Class MONDO:0000317 biolink:NamedThing obsolete foodborne botulism tmpte7i6ely_mondo_relaxed.owl MONDO:0016453 True owl:Class MONDO:0010372 biolink:NamedThing obsolete Clark-Baraitser syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0030914 These were merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/2457 owl:Class MONDO:0005239 biolink:NamedThing obsolete dedifferentiated liposarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020563 True owl:Class MONDO:0000206 biolink:NamedThing obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL True owl:Class MONDO:0005877 biolink:NamedThing obsolete nocardiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017776 True owl:Class MONDO:0019812 biolink:NamedThing obsolete tricuspid valve prolapse tmpte7i6ely_mondo_relaxed.owl MONDO:0007001 True owl:Class MONDO:0005458 biolink:NamedThing obsolete q fever tmpte7i6ely_mondo_relaxed.owl MONDO:0019186 True owl:Class MONDO:0015154 biolink:NamedThing obsolete rickettsial disease tmpte7i6ely_mondo_relaxed.owl MONDO:0006956 True owl:Class MONDO:0000512 biolink:NamedThing obsolete ameloblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017795 True owl:Class MONDO:0022939 biolink:NamedThing obsolete deafness hyperuricemia neurologic ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0043176 Obsolete in GARD. True https://github.com/monarch-initiative/mondo/issues/1596 owl:Class MONDO:0002700 biolink:NamedThing obsolete epithelioid trophoblastic tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0016787 True owl:Class MONDO:0019135 biolink:NamedThing obsolete paracoccidioidomycosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005894 True owl:Class GO:0043900 biolink:NamedThing obsolete regulation of multi-organism process OBSOLETE. Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0019958 biolink:NamedThing obsolete insulinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005048 True owl:Class GO:0051194 biolink:NamedThing obsolete positive regulation of cofactor metabolic process OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpte7i6ely_mondo_relaxed.owl up-regulation of cofactor metabolic process|up regulation of cofactor metabolic process|positive regulation of cofactor metabolism|activation of cofactor metabolic process|stimulation of cofactor metabolic process|upregulation of cofactor metabolic process True owl:Class MONDO:0016992 biolink:NamedThing obsolete peeling skin syndrome type B tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0024548 True https://github.com/monarch-initiative/mondo/issues/2705 owl:Class MONDO:0006431 biolink:NamedThing obsolete splenic marginal zone lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019462 True owl:Class MONDO:0018704 biolink:NamedThing obsolete actinomycosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005631 True owl:Class MONDO:0005781 biolink:NamedThing obsolete hantavirus pulmonary syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017879 True owl:Class MONDO:0009510 biolink:NamedThing obsolete Laron syndrome with immunodeficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0100211 Split this term and added OMIM phenotypic series as a parent. True owl:Class MONDO:0006299 biolink:NamedThing obsolete mediastinal neuroblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0001095 True owl:Class GO:0035636 biolink:NamedThing obsolete multi-organism signaling OBSOLETE. The transfer of information between living organisms. tmpte7i6ely_mondo_relaxed.owl signaling between organisms|pheromone signaling|signaling with other organism|multi-organism signalling True owl:Class MONDO:0006333 biolink:NamedThing obsolete ovarian dysgerminoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003481 True owl:Class MONDO:0017605 biolink:NamedThing obsolete ependymal tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0003266 True owl:Class MONDO:0000464 biolink:NamedThing obsolete Stargardt disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019353 True owl:Class MONDO:0020114 biolink:NamedThing obsolete polycythemia tmpte7i6ely_mondo_relaxed.owl MONDO:0005571 True owl:Class GO:0051188 biolink:NamedThing obsolete cofactor biosynthetic process OBSOLETE. The chemical reactions and pathways resulting in the formation of a cofactor, a substance that is required for the activity of an enzyme or other protein. tmpte7i6ely_mondo_relaxed.owl cofactor formation|cofactor anabolism|cofactor synthesis|cofactor biosynthesis True owl:Class MONDO:0003484 biolink:NamedThing obsolete penis squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018352 True owl:Class MONDO:0004437 biolink:NamedThing obsolete gastric signet ring cell adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006409 True owl:Class MONDO:0003833 biolink:NamedThing obsolete severe combined immunodeficiency tmpte7i6ely_mondo_relaxed.owl obsolete severe combined immunodeficiency (disease) obsolete severe combined immunodeficiency (disease) MONDO:0015974 True owl:Class MONDO:0012065 biolink:NamedThing obsolete Stevens-Johnson syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018229 True owl:Class GO:0072368 biolink:NamedThing obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0000322 biolink:NamedThing obsolete Carrion disease OBSOLETE. A disease caused by infection with Bartonella bacilliformis. tmpte7i6ely_mondo_relaxed.owl MONDO:0018984 True owl:Class MONDO:0003871 biolink:NamedThing obsolete metanephric adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006301 True owl:Class MONDO:0020514 biolink:NamedThing obsolete thymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006456 True owl:Class MONDO:0007455 biolink:NamedThing obsolete diabetes mellitus, noninsulin-dependent tmpte7i6ely_mondo_relaxed.owl MONDO:0005148 Duplicate terms. True https://github.com/monarch-initiative/mondo/issues/2377 owl:Class MONDO:0022418 biolink:NamedThing obsolete alopecia immunodeficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0011132 Editor note: removed from GARD, merged with MONDO:0011132 True owl:Class MONDO:0004676 biolink:NamedThing obsolete progressive myoclonus epilepsy tmpte7i6ely_mondo_relaxed.owl MONDO:0020074 True owl:Class MONDO:0000737 biolink:NamedThing obsolete megalocornea tmpte7i6ely_mondo_relaxed.owl MONDO:0009576 True owl:Class CL:0000181 biolink:NamedThing obsolete metabolising cell A cell whose primary function is intermediary metabolism. tmpte7i6ely_mondo_relaxed.owl Removing this grouping class, because the groupings are incomplete and too hard to maintain. True cell https://github.com/obophenotype/cell-ontology/issues/720 owl:Class MONDO:0000899 biolink:NamedThing obsolete malignant epithelioid hemangioendothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0015523 True owl:Class MONDO:0000098 biolink:NamedThing obsolete thyrotoxic periodic paralysis tmpte7i6ely_mondo_relaxed.owl MONDO:0019201 True owl:Class MONDO:0007703 biolink:NamedThing obsolete heart, malformation of tmpte7i6ely_mondo_relaxed.owl MONDO:0009327 True owl:Class MONDO:0000067 biolink:NamedThing obsolete mitochondrial DNA depletion syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018158 True owl:Class MONDO:0003696 biolink:NamedThing obsolete meningeal melanocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016746 True owl:Class MONDO:0000149 biolink:NamedThing obsolete retinopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0005283 True owl:Class MONDO:0003854 biolink:NamedThing obsolete tibial adamantinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006469 True owl:Class GO:0044452 biolink:NamedThing obsolete nucleolar part OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. tmpte7i6ely_mondo_relaxed.owl nucleolus component GO:0005730 True owl:Class MONDO:0005472 biolink:NamedThing obsolete congenital heart malformation tmpte7i6ely_mondo_relaxed.owl MONDO:0019512 True owl:Class MONDO:0020551 biolink:NamedThing obsolete hydatidiform mole tmpte7i6ely_mondo_relaxed.owl MONDO:0006248 True owl:Class MONDO:0016245 biolink:NamedThing obsolete ovarian cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0008170 True owl:Class MONDO:0015258 biolink:NamedThing obsolete botulism tmpte7i6ely_mondo_relaxed.owl MONDO:0005498 True owl:Class IAO:0000231 biolink:NamedThing has obsolescence reason Relates an annotation property to an obsolescence reason. The values of obsolescence reasons come from a list of predefined terms, instances of the class obsolescence reason specification. tmpte7i6ely_mondo_relaxed.owl has obsolescence reason PERSON:Alan Ruttenberg|PERSON:Melanie Courtot owl:AnnotationProperty MONDO:0004954 biolink:NamedThing obsolete malt lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0007650 True owl:Class MONDO:0001581 biolink:NamedThing obsolete tolosa-hunt syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018983 True owl:Class MONDO:0000932 biolink:NamedThing obsolete skin amelanotic melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005208 True owl:Class IAO:0000598 biolink:NamedThing has ID policy for Relating an ontology used to record id policy to the ontology namespace whose policy it manages tmpte7i6ely_mondo_relaxed.owl has ID policy for Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0021910 biolink:NamedThing obsolete aplasia cutis myopia tmpte7i6ely_mondo_relaxed.owl MONDO:0010988 True owl:Class MONDO:0000370 biolink:NamedThing obsolete Askin's tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006094 True owl:Class GO:1900413 biolink:NamedThing obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl positive regulation of phospholipid synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of phospholipid biosynthesis by positive regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0018335 biolink:NamedThing obsolete deep dermatophytosis tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0021660 True https://github.com/monarch-initiative/mondo/issues/4128 owl:Class MONDO:0000398 biolink:NamedThing obsolete female breast cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0004379 True owl:Class OIO:hasBroadSynonym biolink:NamedThing has_broad_synonym tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0001619 biolink:NamedThing obsolete relapsing fever tmpte7i6ely_mondo_relaxed.owl MONDO:0019633 True owl:Class MONDO:0019616 biolink:NamedThing obsolete germinoma of the central nervous system tmpte7i6ely_mondo_relaxed.owl MONDO:0002999 True owl:Class MONDO:0003309 biolink:NamedThing obsolete pleural cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0006294 True owl:Class MONDO:0009640 biolink:NamedThing obsolete mitochondrial complex I deficiency, nuclear type tmpte7i6ely_mondo_relaxed.owl MONDO:0100223 Split this into a new term, this term had both a OMIMPS and OMIM class as equivalent. True https://github.com/monarch-initiative/mondo/issues/2277 owl:Class MONDO:0020085 biolink:NamedThing obsolete mastocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0007950 True owl:Class MONDO:0005403 biolink:NamedThing obsolete neonatal systemic lupus erthematosus tmpte7i6ely_mondo_relaxed.owl MONDO:0018360 True owl:Class MONDO:0000856 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 6 tmpte7i6ely_mondo_relaxed.owl MONDO:0019551 True owl:Class MONDO:0000788 biolink:NamedThing obsolete fish allergy OBSOLETE. A allergy involving fish. tmpte7i6ely_mondo_relaxed.owl allergy of fish food product|fish food product allergic disease MONDO:outOfScope DOID:0060513 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MONDO:0005529 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria type cblG tmpte7i6ely_mondo_relaxed.owl MONDO:0009609 True owl:Class MONDO:0000081 biolink:NamedThing obsolete ovarian dysgenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0009299 True owl:Class MONDO:0001107 biolink:NamedThing obsolete cerebral lipidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0020143 True owl:Class MONDO:0000438 biolink:NamedThing obsolete ataxia with oculomotor apraxia type 2 tmpte7i6ely_mondo_relaxed.owl MONDO:0018996 True owl:Class MONDO:0004388 biolink:NamedThing obsolete testicular spermatocytic seminoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020513 True owl:Class IAO:0000420 biolink:NamedThing defined class A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal|A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal tmpte7i6ely_mondo_relaxed.owl "definitions", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal.|"definitions", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal. defined class Alan Ruttenberg|Alan Ruttenberg owl:NamedIndividual MONDO:0000132 biolink:NamedThing obsolete hypocalcemia tmpte7i6ely_mondo_relaxed.owl obsolete hypocalcemia (disease) obsolete hypocalcemia (disease) True owl:Class MONDO:0020810 biolink:NamedThing obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0020628 True https://github.com/monarch-initiative/mondo/issues/767 owl:Class MONDO:0001070 biolink:NamedThing obsolete adrenoleukodystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0018544 True owl:Class MONDO:0009819 biolink:NamedThing obsolete idiopathic juvenile osteoporosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019409 True owl:Class MONDO:0020328 biolink:NamedThing obsolete classic Hodgkin lymphoma, mixed cellularity type tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0004633 True https://github.com/monarch-initiative/mondo/issues/3000 owl:Class MONDO:0000025 biolink:NamedThing obsolete familial cold autoinflammatory syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018768 True owl:Class MONDO:0002743 biolink:NamedThing obsolete prostate colloid adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006067 True owl:Class MONDO:0004123 biolink:NamedThing obsolete laryngeal small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006265 True owl:Class MONDO:0006719 biolink:NamedThing obsolete cystic lymphangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0009761 True https://github.com/monarch-initiative/mondo/issues/395 owl:Class MONDO:0000312 biolink:NamedThing obsolete enlarged vestibular aqueduct tmpte7i6ely_mondo_relaxed.owl MONDO:0023069 True owl:Class MONDO:0006535 biolink:NamedThing obsolete cicatricial pemphigoid tmpte7i6ely_mondo_relaxed.owl MONDO:0018746 True owl:Class MONDO:0002011 biolink:NamedThing obsolete hereditary angioedema tmpte7i6ely_mondo_relaxed.owl MONDO:0019623 True owl:Class MONDO:0016813 biolink:NamedThing obsolete microsporidiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005846 True owl:Class MONDO:0005360 biolink:NamedThing obsolete Dupuytren contracture tmpte7i6ely_mondo_relaxed.owl obsolete Dupuytren contracture (disease) obsolete Dupuytren contracture (disease) MONDO:0006345 True owl:Class MONDO:0017777 biolink:NamedThing obsolete rat-bite fever tmpte7i6ely_mondo_relaxed.owl MONDO:0006941 True owl:Class MONDO:0016427 biolink:NamedThing obsolete coccidioidomycosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005706 True owl:Class MONDO:0000073 biolink:NamedThing obsolete nail disorder, nonsyndromic congenital tmpte7i6ely_mondo_relaxed.owl MONDO:0019284 True owl:Class MONDO:0020299 biolink:NamedThing obsolete spinocerebellar ataxia type 15/16 tmpte7i6ely_mondo_relaxed.owl MONDO:0011694 True owl:Class dc:type biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0033939 biolink:NamedThing obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0060564 duplicate True https://github.com/monarch-initiative/mondo/issues/2461 owl:Class MONDO:0015815 biolink:NamedThing obsolete primary cutaneous diffuse large B-cell lymphoma, leg type tmpte7i6ely_mondo_relaxed.owl MONDO:0006383 True owl:Class MONDO:0000853 biolink:NamedThing obsolete Kniest dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0007987 True owl:Class MONDO:0004399 biolink:NamedThing obsolete epithelial malignant thymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006458 True owl:Class GO:0044431 biolink:NamedThing obsolete Golgi apparatus part OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. tmpte7i6ely_mondo_relaxed.owl Golgi component|Golgi subcomponent GO:0005794 True owl:Class MONDO:0002080 biolink:NamedThing obsolete congenital ichthyosiform erythroderma tmpte7i6ely_mondo_relaxed.owl obsolete congenital ichthyosiform erythroderma (disease) obsolete congenital ichthyosiform erythroderma (disease) MONDO:0019306 True owl:Class IAO:0000411 biolink:NamedThing is denotator type Relates an class defined in an ontology, to the type of it's denotator tmpte7i6ely_mondo_relaxed.owl In OWL 2 add AnnotationPropertyRange('is denotator type' 'denotator type') is denotator type Alan Ruttenberg owl:AnnotationProperty MONDO:0000285 biolink:NamedThing obsolete lujo hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017872 True owl:Class FOODON:03411215 biolink:NamedThing obsolete: algae, bacteria or fungus tmpte7i6ely_mondo_relaxed.owl Disjunction discouraged, use specific item instead. http://www.langual.org/langual_thesaurus.asp?termid=B1215 True http://langual.org owl:Class MONDO:0000876 biolink:NamedThing obsolete herpes simplex virus keratitis tmpte7i6ely_mondo_relaxed.owl MONDO:0015288 True owl:Class MONDO:0001448 biolink:NamedThing obsolete alveolar echinococcosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017282 True owl:Class MONDO:0007658 biolink:NamedThing obsolete spitz nevus OBSOLETE. A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. tmpte7i6ely_mondo_relaxed.owl MONDO:0044793 Obsoleted as was conflated with congenital melanocytic nevus True owl:Class MONDO:0016973 biolink:NamedThing obsolete thymoma type A tmpte7i6ely_mondo_relaxed.owl MONDO:0002588 True owl:Class MONDO:0016896 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 18 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0007800 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0005225 biolink:NamedThing obsolete acute myeloblastic leukemia with maturation tmpte7i6ely_mondo_relaxed.owl MONDO:0020320 True owl:Class MONDO:0022546 biolink:NamedThing obsolete basal cell nevus anodontia abnormal bone mineralization tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0021845 True https://github.com/monarch-initiative/mondo/issues/3700 owl:Class MONDO:0000203 biolink:NamedThing obsolete Dehydrated hereditary stomatocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017910 True owl:Class MONDO:0022406 biolink:NamedThing obsolete aksu von stockhausen syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0021836 True owl:Class MONDO:0000139 biolink:NamedThing obsolete microcephalic primordial dwarfism tmpte7i6ely_mondo_relaxed.owl MONDO:0017950 True owl:Class MONDO:0021122 biolink:NamedThing obsolete small cell neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0000402 True owl:Class OBO:ro.owl#y biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0043181 biolink:NamedThing obsolete Refsum disease with increased pipecolic acidemia tmpte7i6ely_mondo_relaxed.owl MONDO:0009958 Obsoleted in OMIM. True https://github.com/monarch-initiative/mondo/issues/2590 owl:Class MONDO:0018524 biolink:NamedThing obsolete intraductal papillary mucinous carcinoma of pancreas tmpte7i6ely_mondo_relaxed.owl MONDO:0004285 True owl:Class MONDO:0005270 biolink:NamedThing obsolete motor neuron disease tmpte7i6ely_mondo_relaxed.owl MONDO:0020128 True owl:Class MONDO:0011515 biolink:NamedThing obsolete papillary renal cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017884 True owl:Class MONDO:0008784 biolink:NamedThing obsolete autoimmune hemolytic anemia tmpte7i6ely_mondo_relaxed.owl MONDO:0020108 True owl:Class MONDO:0003123 biolink:NamedThing obsolete multiple system atrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0007803 True owl:Class GO:0006732 biolink:NamedThing obsolete coenzyme metabolic process OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. tmpte7i6ely_mondo_relaxed.owl coenzyme and prosthetic group metabolic process|coenzyme and prosthetic group metabolism|group transfer coenzyme metabolism|group transfer coenzyme metabolic process|coenzyme metabolism True owl:Class MONDO:0017821 biolink:NamedThing obsolete functioning pituitary adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003429 True owl:Class MONDO:0017254 biolink:NamedThing obsolete posterior uveitis tmpte7i6ely_mondo_relaxed.owl obsolete posterior uveitis (disease) obsolete posterior uveitis (disease) MONDO:0001280 True owl:Class MONDO:0018139 biolink:NamedThing obsolete scleredema tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0006606 True https://github.com/monarch-initiative/mondo/issues/3847 owl:Class MONDO:0003116 biolink:NamedThing obsolete calciphylaxis tmpte7i6ely_mondo_relaxed.owl MONDO:0017215 True owl:Class MONDO:0002346 biolink:NamedThing obsolete malignant histiocytic disease tmpte7i6ely_mondo_relaxed.owl MONDO:0004612 True owl:Class MONDO:0000272 biolink:NamedThing obsolete autoimmune polyendocrine syndrome type 2 tmpte7i6ely_mondo_relaxed.owl MONDO:0010012 True owl:Class MONDO:0001043 biolink:NamedThing obsolete diaphragm disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005728 True owl:Class MONDO:0018862 biolink:NamedThing obsolete cat-scratch disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005692 True owl:Class MONDO:0002662 biolink:NamedThing obsolete plague tmpte7i6ely_mondo_relaxed.owl MONDO:0019095 True owl:Class MONDO:0019425 biolink:NamedThing obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010574 True https://github.com/monarch-initiative/mondo/issues/2843 owl:Class MONDO:0015309 biolink:NamedThing obsolete Auriculocondylar syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0000107 True owl:Class MONDO:0006342 biolink:NamedThing obsolete ovarian squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003494 True owl:Class MONDO:0001131 biolink:NamedThing obsolete duodenum adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006186 True owl:Class MONDO:0005427 biolink:NamedThing obsolete vasuclar dementia tmpte7i6ely_mondo_relaxed.owl MONDO:0004648 True owl:Class MONDO:0000917 biolink:NamedThing obsolete thyroid lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019962 True owl:Class MONDO:0019539 biolink:NamedThing obsolete retinopathy of prematurity tmpte7i6ely_mondo_relaxed.owl MONDO:0006952 True owl:Class MONDO:0003006 biolink:NamedThing obsolete Bartter disease tmpte7i6ely_mondo_relaxed.owl MONDO:0015231 True owl:Class MONDO:0010942 biolink:NamedThing obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 tmpte7i6ely_mondo_relaxed.owl eukaryotic translation elongation Factor 1 Alpha-1-like type 14|prostatic carcinoma tumor-inducing Gene 1|EEF1A1L14|eukaryotic translation elongation factor 1 ALPHA-1-like 14 OMIM:600841 True owl:Class MONDO:0000860 biolink:NamedThing obsolete neural tube defect tmpte7i6ely_mondo_relaxed.owl MONDO:0018075 True owl:Class MONDO:0000731 biolink:NamedThing obsolete peeling skin syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019347 True owl:Class MONDO:0016728 biolink:NamedThing obsolete cerebellar liponeurocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006131 True owl:Class MONDO:0022512 biolink:NamedThing obsolete atrial septal defect coronary sinus tmpte7i6ely_mondo_relaxed.owl MONDO:0020435 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0007419 biolink:NamedThing obsolete Darwinian tubercle of pinna tmpte7i6ely_mondo_relaxed.owl MONDO:0007418 True owl:Class MONDO:0012649 biolink:NamedThing obsolete FTSD tmpte7i6ely_mondo_relaxed.owl MONDO:0044871 True owl:Class MONDO:0022940 biolink:NamedThing obsolete deafness hyperuricemia neurologic ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0022939 True owl:Class OIO:hasNarrowSynonym biolink:NamedThing has_narrow_synonym tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006910 biolink:NamedThing obsolete pituitary-dependent Cushing disease tmpte7i6ely_mondo_relaxed.owl MONDO:0020528 Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS True owl:Class MONDO:0002819 biolink:NamedThing obsolete Loeffler endocarditis tmpte7i6ely_mondo_relaxed.owl MONDO:0019159 True owl:Class GO:0072369 biolink:NamedThing obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0015964 biolink:NamedThing obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease tmpte7i6ely_mondo_relaxed.owl MONDO:outOfScope Obsolete in Orphanet UMLS:CN200563|Orphanet:183598 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class rdfs:label biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004998 biolink:NamedThing obsolete chondromyxoid fibroma tmpte7i6ely_mondo_relaxed.owl MONDO:0018447 True owl:Class MONDO:0000274 biolink:NamedThing obsolete tick-borne encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0017572 True owl:Class MONDO:0002709 biolink:NamedThing obsolete Kallmann syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018800 True owl:Class MONDO:0000829 biolink:NamedThing obsolete early-onset Parkinson disease tmpte7i6ely_mondo_relaxed.owl MONDO:0017279 True owl:Class MONDO:0004070 biolink:NamedThing obsolete gemistocytic astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016689 True owl:Class MONDO:0002873 biolink:NamedThing obsolete testicular germ cell tumor non-seminomatous tmpte7i6ely_mondo_relaxed.owl MONDO:0006447 True owl:Class MONDO:0000449 biolink:NamedThing obsolete Opitz-GBBB syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017138 True owl:Class MONDO:0000076 biolink:NamedThing obsolete neuropathy, hereditary sensory and autonomic tmpte7i6ely_mondo_relaxed.owl MONDO:0015364 True owl:Class MONDO:0024267 biolink:NamedThing obsolete epidemic encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019384 True owl:Class MONDO:0002521 biolink:NamedThing obsolete multiple symmetrical lipomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0007908 True owl:Class skos:relatedMatch biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000280 biolink:NamedThing obsolete Brazilian hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017877 True owl:Class MONDO:0015956 biolink:NamedThing obsolete rare hereditary ataxia OBSOLETE. Rare hereditary ataxia. tmpte7i6ely_mondo_relaxed.owl MONDO:0000557 True owl:Class MONDO:0006439 biolink:NamedThing obsolete syringocystadenoma papilliferum tmpte7i6ely_mondo_relaxed.owl MONDO:0019392 True owl:Class MONDO:0001981 biolink:NamedThing obsolete cholesterol ester storage disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019149 True owl:Class MONDO:0044266 biolink:NamedThing obsolete xm system OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage. tmpte7i6ely_mondo_relaxed.owl XM system HGNC:12813 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0016640 biolink:NamedThing obsolete fibrous dysplasia of bone tmpte7i6ely_mondo_relaxed.owl MONDO:0000845 Appears to be same concept as MONDO:0000845, fibrous dysplasia. True https://github.com/monarch-initiative/mondo/issues/2462 owl:Class MONDO:0000323 biolink:NamedThing obsolete familial adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl MONDO:0008279 True owl:Class MONDO:0018482 biolink:NamedThing obsolete squamous cell carcinoma of stomach tmpte7i6ely_mondo_relaxed.owl MONDO:0006230 True owl:Class MONDO:0000822 biolink:NamedThing obsolete lymphoproliferative syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016537 True owl:Class MONDO:0007611 biolink:NamedThing obsolete Zimmermann-Laband syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0000200 True owl:Class MONDO:0020329 biolink:NamedThing obsolete classic Hodgkin lymphoma, lymphocyte-rich type tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0004604 True https://github.com/monarch-initiative/mondo/issues/3001 owl:Class MONDO:0004084 biolink:NamedThing obsolete uveal epithelioid cell melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006200 True owl:Class MONDO:0005422 biolink:NamedThing obsolete nodular sclerosis Hodgkin lymphoma OBSOLETE. A distinct, highly heritable Hodgkin lymphoma subtype. tmpte7i6ely_mondo_relaxed.owl MONDO:0004665 True owl:Class MONDO:0001346 biolink:NamedThing obsolete distal muscular dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0018949 True owl:Class GO:0100023 biolink:NamedThing obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0005205 biolink:NamedThing obsolete systemic lupus erythematosus tmpte7i6ely_mondo_relaxed.owl MONDO:0007915 True owl:Class MONDO:0014879 biolink:NamedThing obsolete patent ductus arteriosus 3 tmpte7i6ely_mondo_relaxed.owl MONDO:0024266 True owl:Class MONDO:0015472 biolink:NamedThing obsolete cryptococcosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005724 True owl:Class MONDO:0002539 biolink:NamedThing obsolete oligodendroglioma tmpte7i6ely_mondo_relaxed.owl MONDO:0016695 True owl:Class MONDO:0020086 biolink:NamedThing obsolete idiopathic interstitial pneumonia tmpte7i6ely_mondo_relaxed.owl MONDO:0002429 True owl:Class MONDO:0002964 biolink:NamedThing obsolete non-Langerhans-cell histiocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0015531 True owl:Class MONDO:0006305 biolink:NamedThing obsolete mixed cell uveal melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003910 True owl:Class MONDO:0005840 biolink:NamedThing obsolete mast-cell leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0020334 True owl:Class MONDO:0003160 biolink:NamedThing obsolete sebaceous carcinoma OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. tmpte7i6ely_mondo_relaxed.owl MONDO:0006962 True owl:Class MONDO:0016313 biolink:NamedThing obsolete renal cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005086 True owl:Class GO:0004871 biolink:NamedThing obsolete signal transducer activity OBSOLETE. Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpte7i6ely_mondo_relaxed.owl hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity|quorum sensing response regulator activity|quorum sensing signal generator activity True owl:Class MONDO:0004157 biolink:NamedThing obsolete pancreatic mucinous cystadenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018523 True owl:Class MONDO:0006080 biolink:NamedThing obsolete ampulla of vater carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017590 True owl:Class MONDO:0011665 biolink:NamedThing obsolete Lennox-Gastaut syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016532 True owl:Class MONDO:0000061 biolink:NamedThing obsolete microcephaly, primary, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MONDO:0016660 True owl:Class MONDO:0002339 biolink:NamedThing obsolete hemangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006500 True owl:Class MONDO:0100139 biolink:NamedThing obsolete asymptomatic COVID-19 infection OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease. tmpte7i6ely_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0007065 biolink:NamedThing obsolete adenosine deaminase, elevated, hemolytic anemia due to tmpte7i6ely_mondo_relaxed.owl MONDO:0020458 True owl:Class MONDO:0000862 biolink:NamedThing obsolete reducing body myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0019948 True owl:Class MONDO:0005513 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria type cblE tmpte7i6ely_mondo_relaxed.owl MONDO:0009354 True owl:Class MONDO:0016300 biolink:NamedThing obsolete transposition of the great arteries tmpte7i6ely_mondo_relaxed.owl MONDO:0000153 True owl:Class MONDO:0017848 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 12 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0022174 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0018886 biolink:NamedThing obsolete listeriosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005828 True owl:Class MONDO:0010609 biolink:NamedThing obsolete Hirschsprung disease with type d brachydactyly tmpte7i6ely_mondo_relaxed.owl MONDO:0016294 True owl:Class MONDO:0000695 biolink:NamedThing obsolete histidinemia tmpte7i6ely_mondo_relaxed.owl MONDO:0009345 True owl:Class MONDO:0014721 biolink:NamedThing obsolete hereditary spherocytosis type 2 tmpte7i6ely_mondo_relaxed.owl MONDO:0000913 True owl:Class MONDO:0000033 biolink:NamedThing obsolete frontonasal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0016643 True owl:Class MONDO:0000760 biolink:NamedThing obsolete acrofacial dysostosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018237 True owl:Class MONDO:0020319 biolink:NamedThing obsolete acute myeloblastic leukemia without maturation tmpte7i6ely_mondo_relaxed.owl MONDO:0005224 True owl:Class MONDO:0002431 biolink:NamedThing obsolete nonspecific interstitial pneumonia tmpte7i6ely_mondo_relaxed.owl MONDO:0019622 True owl:Class MONDO:0015670 biolink:NamedThing obsolete cardiomyopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0004994 True owl:Class MONDO:0003415 biolink:NamedThing obsolete hemoglobin d disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019537 True owl:Class MONDO:0004228 biolink:NamedThing obsolete hypogonadotropism tmpte7i6ely_mondo_relaxed.owl MONDO:0018555 True owl:Class MONDO:0000056 biolink:NamedThing obsolete mandibuloacral dysplasia with lipodystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0016584 True owl:Class MONDO:0012647 biolink:NamedThing obsolete generalized epilepsy with febrile seizures plus, type 3 tmpte7i6ely_mondo_relaxed.owl MONDO:0011891 True owl:Class MONDO:0010249 biolink:NamedThing obsolete X-linked B cell surface antigen, mouse, homolog-like 1 tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0001934 biolink:NamedThing obsolete primary hypertrophic osteoarthropathy tmpte7i6ely_mondo_relaxed.owl MONDO:0016620 True owl:Class MONDO:0015456 biolink:NamedThing obsolete whooping cough tmpte7i6ely_mondo_relaxed.owl MONDO:0005077 True owl:Class MONDO:0004113 biolink:NamedThing obsolete HCL-v tmpte7i6ely_mondo_relaxed.owl MONDO:0017600 True owl:Class MONDO:0015266 biolink:NamedThing obsolete brucellosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005683 True owl:Class MONDO:0045031 biolink:NamedThing obsolete infectious diarrheal disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0001517 True https://github.com/monarch-initiative/mondo/issues/3703 owl:Class MONDO:0006954 biolink:NamedThing obsolete rheumatic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017767 True owl:Class MONDO:0004850 biolink:NamedThing obsolete yellow fever tmpte7i6ely_mondo_relaxed.owl MONDO:0020502 True owl:Class MONDO:0001077 biolink:NamedThing obsolete short bowel syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015183 True owl:Class MONDO:0005926 biolink:NamedThing obsolete poliomyelitis tmpte7i6ely_mondo_relaxed.owl MONDO:0017373 True owl:Class MONDO:0000036 biolink:NamedThing obsolete hemolytic anemia, nonspherocytic tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0016389 biolink:NamedThing obsolete lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005062 True owl:Class MONDO:0005930 biolink:NamedThing obsolete postpoliomyelitis syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017416 True owl:Class MONDO:0018196 biolink:NamedThing obsolete germ cell tumor of testis tmpte7i6ely_mondo_relaxed.owl MONDO:0010108 True owl:Class IAO:0000228 biolink:NamedThing term imported tmpte7i6ely_mondo_relaxed.owl This is to be used when the original term has been replaced by a term imported from an other ontology. An editor note should indicate what is the URI of the new term to use. term imported IAO:0000225 MONDO:0008646 biolink:NamedThing obsolete long QT syndrome 1 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0100316 True https://github.com/monarch-initiative/mondo/issues/2330 owl:Class https://w3id.org/biodatamodels/gff/end biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006341 biolink:NamedThing obsolete ovarian small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003795 True owl:Class MONDO:0019302 biolink:NamedThing obsolete mucopolysaccharidosis with skin involvement tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010674 Grouping class with a single child. It is a synonym for the child term. True https://github.com/monarch-initiative/mondo/issues/3785|https://github.com/monarch-initiative/mondo/issues/3787 owl:Class MONDO:0017608 biolink:NamedThing obsolete dystrophic epidermolysis bullosa tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0006543 True https://github.com/monarch-initiative/mondo/issues/3856 owl:Class MONDO:0006252 biolink:NamedThing obsolete infiltrating bladder lymphoepithelioma-like carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004299 True owl:Class MONDO:0005209 biolink:NamedThing obsolete cutaneous T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0000607 True owl:Class MONDO:0006911 biolink:NamedThing obsolete placental site trophoblastic tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0020552 True owl:Class urn:swrl#mf2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0010345 biolink:NamedThing obsolete ocular albinism tmpte7i6ely_mondo_relaxed.owl MONDO:0017304 True owl:Class MONDO:0003156 biolink:NamedThing obsolete adenosquamous carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006074 True owl:Class MONDO:0100143 biolink:NamedThing obsolete critical COVID-19 infection OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction. tmpte7i6ely_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0002007 biolink:NamedThing obsolete VACTERL association tmpte7i6ely_mondo_relaxed.owl MONDO:0008642 True owl:Class MONDO:0000154 biolink:NamedThing obsolete Trichohepatoenteric syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class IAO:0000421 biolink:NamedThing named class expression A named class expression is a logical expression that is given a name. The name can be used in place of the expression.|A named class expression is a logical expression that is given a name. The name can be used in place of the expression. tmpte7i6ely_mondo_relaxed.owl named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions|named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions named class expression Alan Ruttenberg|Alan Ruttenberg owl:NamedIndividual MONDO:0000868 biolink:NamedThing obsolete mitochondrial DNA depletion syndrome 6 tmpte7i6ely_mondo_relaxed.owl MTDPS6|mitochondrial DNA depletion syndrome type 6 MONDO:0009747 True owl:Class OIO:hasOBOFormatVersion biolink:NamedThing has_obo_format_version tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000406 biolink:NamedThing obsolete Brown-Vialetto-van Laere syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008891 True https://github.com/monarch-initiative/mondo/issues/127 owl:Class MONDO:0003877 biolink:NamedThing obsolete cervical adenoid basal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006132 True owl:Class MONDO:0002699 biolink:NamedThing obsolete pancreatic ductal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005184 True owl:Class MONDO:0017293 biolink:NamedThing obsolete small cell carcinoma of the bladder tmpte7i6ely_mondo_relaxed.owl MONDO:0004114 True owl:Class MONDO:0003176 biolink:NamedThing obsolete cervical adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006133 True owl:Class MONDO:0000268 biolink:NamedThing obsolete lymphoid interstitial pneumonia tmpte7i6ely_mondo_relaxed.owl MONDO:0009537 True owl:Class GO:0051705 biolink:NamedThing obsolete multi-organism behavior OBSOLETE. Any process in which an organism has a behavioral effect on another organism of the same or different species. tmpte7i6ely_mondo_relaxed.owl behavioural interaction with other organism|behavioral signalling|behavioral signaling|behavioural interaction between organisms|behavioral interaction with other organism|behavioral interaction between organisms True owl:Class MONDO:0000329 biolink:NamedThing obsolete epidemic typhus tmpte7i6ely_mondo_relaxed.owl MONDO:0019362 True owl:Class MONDO:0015685 biolink:NamedThing obsolete peritoneal cystic mesothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006363 True owl:Class IAO:0000410 biolink:NamedThing universal tmpte7i6ely_mondo_relaxed.owl A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf|A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf Hard to give a definition for. Intuitively a "natural kind" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents.|Hard to give a definition for. Intuitively a "natural kind" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents. universal Alan Ruttenberg|Alan Ruttenberg owl:NamedIndividual MONDO:0002895 biolink:NamedThing obsolete dentinogenesis imperfecta tmpte7i6ely_mondo_relaxed.owl MONDO:0018849 True owl:Class MONDO:0001570 biolink:NamedThing obsolete locked-in syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016567 True owl:Class MONDO:0018650 biolink:NamedThing obsolete hemochromatosis type 5 tmpte7i6ely_mondo_relaxed.owl MONDO:0014225 True owl:Class MONDO:0006472 biolink:NamedThing obsolete tracheal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003184 True owl:Class MONDO:0019051 biolink:NamedThing obsolete lysosomal disease tmpte7i6ely_mondo_relaxed.owl MONDO:0002561 True owl:Class MONDO:0005732 biolink:NamedThing obsolete diphyllobothriasis tmpte7i6ely_mondo_relaxed.owl MONDO:0015260 True owl:Class MONDO:0044680 biolink:NamedThing obsolete short rib-polydactyly syndrome type 5 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0013569 True https://github.com/monarch-initiative/mondo/issues/2806 owl:Class MONDO:0012633 biolink:NamedThing obsolete malaria tmpte7i6ely_mondo_relaxed.owl MONDO:0005136 True owl:Class MONDO:0000730 biolink:NamedThing obsolete pontocerebellar hypoplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0020135 True owl:Class MONDO:0016538 biolink:NamedThing obsolete hypotonia-cystinuria syndrome type 1 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011669 True https://github.com/monarch-initiative/mondo/issues/3782 owl:Class MONDO:0000347 biolink:NamedThing obsolete adult T-cell leukemia/lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019471 True owl:Class MONDO:0005934 biolink:NamedThing obsolete pyruvate decarboxylase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0019169 True owl:Class MONDO:0002825 biolink:NamedThing obsolete Meige syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019772 True owl:Class MONDO:0002276 biolink:NamedThing obsolete arteriosclerotic cardiovascular disease tmpte7i6ely_mondo_relaxed.owl MONDO:0002277 True owl:Class MONDO:0006623 biolink:NamedThing obsolete autoimmune pancreatitis type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0017227 True owl:Class MONDO:0016023 biolink:NamedThing obsolete ocular coloboma tmpte7i6ely_mondo_relaxed.owl MONDO:0001476 Obsolete in Orphanet. True https://github.com/monarch-initiative/mondo/issues/391 owl:Class MONDO:0000095 biolink:NamedThing obsolete split-hand/foot malformation tmpte7i6ely_mondo_relaxed.owl MONDO:0016576 True owl:Class MONDO:0000117 biolink:NamedThing obsolete diarrhea, congenital tmpte7i6ely_mondo_relaxed.owl MONDO:0000824 True owl:Class MONDO:0003131 biolink:NamedThing obsolete congenital mesoblastic nephroma tmpte7i6ely_mondo_relaxed.owl MONDO:0017043 True owl:Class MONDO:0005958 biolink:NamedThing obsolete sex cord-stromal tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006055 True owl:Class MONDO:0010624 biolink:NamedThing obsolete IFAP/BRESHECK syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0100213 Split this term and added OMIM phenotypic series as a parent. True owl:Class MONDO:0007196 biolink:NamedThing obsolete bladder cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0001187 OMIM references Orphanet:157980 but this does not exist True owl:Class GO:1900402 biolink:NamedThing obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process. tmpte7i6ely_mondo_relaxed.owl regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0007563 biolink:NamedThing obsolete epistaxis, hereditary tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0023065 biolink:NamedThing obsolete encephalopathy recurrent of childhood tmpte7i6ely_mondo_relaxed.owl MONDO:0007539 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0010892 biolink:NamedThing obsolete mitochondrial myopathy and sideroblastic anemia tmpte7i6ely_mondo_relaxed.owl MONDO:0000863 True owl:Class MONDO:0006318 biolink:NamedThing obsolete nevus of Ito tmpte7i6ely_mondo_relaxed.owl MONDO:0016985 True owl:Class MONDO:0002838 biolink:NamedThing obsolete spindle cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006406 True owl:Class GO:0060850 biolink:NamedThing obsolete regulation of transcription involved in cell fate commitment OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the commitment of a cell to a specific fate. tmpte7i6ely_mondo_relaxed.owl GO:0006357|GO:0045165 True owl:Class MONDO:0001937 biolink:NamedThing obsolete LEOPARD syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007893 True owl:Class MONDO:0006433 biolink:NamedThing obsolete subcutaneous panniculitis-like T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019475 True owl:Class MONDO:0005547 biolink:NamedThing obsolete desmoplastic medulloblastoma tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0016711 True https://github.com/monarch-initiative/mondo/issues/3139 owl:Class MONDO:0002115 biolink:NamedThing obsolete pancreatic cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0009831 True owl:Class MONDO:0021421 biolink:NamedThing obsolete carcinoid tumors, intestina tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0021533 True https://github.com/monarch-initiative/mondo/issues/4207 owl:Class MONDO:0006492 biolink:NamedThing obsolete vulvar squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002210 True owl:Class GO:1903759 biolink:NamedThing obsolete signal transduction involved in regulation of aerobic respiration OBSOLETE. Any signal transduction that is involved in regulation of aerobic respiration. tmpte7i6ely_mondo_relaxed.owl signaling pathway involved in regulation of aerobic respiration|signaling cascade involved in regulation of aerobic respiration|signalling pathway involved in regulation of aerobic respiration|signalling cascade involved in regulation of aerobic respiration True owl:Class MONDO:0011947 biolink:NamedThing obsolete HNP1 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0024633 True https://github.com/monarch-initiative/mondo/issues/3600 owl:Class MONDO:0000826 biolink:NamedThing obsolete syndromic X-linked intellectual disability Cabezas type tmpte7i6ely_mondo_relaxed.owl MONDO:0010306 True owl:Class MONDO:0015973 biolink:NamedThing obsolete rare genetic coagulation disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0021181 True owl:Class MONDO:0005816 biolink:NamedThing obsolete Japanese encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019209 True owl:Class MONDO:0005273 biolink:NamedThing obsolete refractory anemia with excess blasts tmpte7i6ely_mondo_relaxed.owl MONDO:0019454 True owl:Class MONDO:0002097 biolink:NamedThing obsolete ocular melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006325 True owl:Class MONDO:0013346 biolink:NamedThing obsolete brain calcification, Rajab type tmpte7i6ely_mondo_relaxed.owl MONDO:0100215 This is a prototype term for an OMIMPS, obsoleted this term and recreated the class that is a child of th OMIMPS. True owl:Class MONDO:0003605 biolink:NamedThing obsolete adrenal neuroblastoma OBSOLETE. A neuroblastoma arising from the adrenal gland. tmpte7i6ely_mondo_relaxed.owl MONDO:0006076 True owl:Class MONDO:0000557 biolink:NamedThing obsolete hereditary ataxia tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0100309 True https://github.com/monarch-initiative/mondo/issues/2866 owl:Class MONDO:0005199 biolink:NamedThing obsolete peripartum cardiomyopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0018920 True owl:Class MONDO:0019510 biolink:NamedThing obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia tmpte7i6ely_mondo_relaxed.owl MONDO:0020726 This was a duplicate with autosomal dominant medullary cystic kidney disease without hyperuricemia. True https://github.com/monarch-initiative/mondo/issues/1878 owl:Class MONDO:0000130 biolink:NamedThing obsolete hypercarotenemia and vitamin a deficiency tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006575 biolink:NamedThing obsolete loiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0016566 True owl:Class MONDO:0006627 biolink:NamedThing obsolete microscopic polyangiitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019124 True owl:Class MONDO:0003183 biolink:NamedThing obsolete trachea adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006471 True owl:Class dc:format biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0010715 biolink:NamedThing obsolete pseudohermaphroditism, incomplete male, type 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0010720 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1697 owl:Class MONDO:0002793 biolink:NamedThing obsolete medullomyoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006300 True owl:Class MONDO:0010009 biolink:NamedThing obsolete SC phocomelia syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0100282 This term was split into a combined parent class (Roberts-SC phocomelia syndrome) and the children classes. True https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0006776 biolink:NamedThing obsolete hairy cell leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018935 True owl:Class MONDO:0003520 biolink:NamedThing obsolete malignant acrospiroma tmpte7i6ely_mondo_relaxed.owl MONDO:0024245 True owl:Class MONDO:0000582 biolink:NamedThing obsolete immunoglobulin alpha deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0000048 True owl:Class GO:0051193 biolink:NamedThing obsolete regulation of cofactor metabolic process OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpte7i6ely_mondo_relaxed.owl regulation of cofactor metabolism True owl:Class MONDO:0002430 biolink:NamedThing obsolete acute interstitial pneumonia tmpte7i6ely_mondo_relaxed.owl MONDO:0019203 True owl:Class GO:0044446 biolink:NamedThing obsolete intracellular organelle part OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane. tmpte7i6ely_mondo_relaxed.owl GO:0043229 True owl:Class MONDO:0004395 biolink:NamedThing obsolete mixed oligodendroglioma-astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016702 True owl:Class MONDO:0017374 biolink:NamedThing obsolete polydactyly tmpte7i6ely_mondo_relaxed.owl MONDO:0011348 True owl:Class MONDO:0006958 biolink:NamedThing obsolete SAPHO syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019266 True owl:Class MONDO:0005540 biolink:NamedThing obsolete rectal adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002169 True owl:Class MONDO:0000832 biolink:NamedThing obsolete myeloid neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0005170 True owl:Class MONDO:0000511 biolink:NamedThing obsolete gallbladder adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006216 True owl:Class MONDO:0004906 biolink:NamedThing obsolete hereditary fructose intolerance syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009249 True owl:Class MONDO:0005389 biolink:NamedThing obsolete sclerosing cholangitis tmpte7i6ely_mondo_relaxed.owl MONDO:0018646 True owl:Class MONDO:0017938 biolink:NamedThing obsolete X-linked cleft palate and ankyloglossia tmpte7i6ely_mondo_relaxed.owl MONDO:0010560 These two terms are duplicates. True https://github.com/monarch-initiative/mondo/issues/2015 owl:Class MONDO:0003013 biolink:NamedThing obsolete pseudohypoaldosteronism tmpte7i6ely_mondo_relaxed.owl MONDO:0018638 True owl:Class MONDO:0005054 biolink:NamedThing obsolete juvenile dermatomyositis tmpte7i6ely_mondo_relaxed.owl MONDO:0008054 True owl:Class MONDO:0000216 biolink:NamedThing obsolete congenital bilateral aplasia of vas deferens tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000713 biolink:NamedThing obsolete Balo concentric sclerosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016430 True owl:Class MONDO:0002584 biolink:NamedThing obsolete syringomyelia tmpte7i6ely_mondo_relaxed.owl MONDO:0017987 True owl:Class MONDO:0006399 biolink:NamedThing obsolete rhabdoid tumor of the kidney tmpte7i6ely_mondo_relaxed.owl MONDO:0002729 True owl:Class MONDO:0018641 biolink:NamedThing obsolete paroxysmal nocturnal hemoglobinuria tmpte7i6ely_mondo_relaxed.owl MONDO:0100245 Split this term to create a grouping class with acquired and inherited forms as children. True owl:Class MONDO:0004623 biolink:NamedThing obsolete prostate carcinoma in situ tmpte7i6ely_mondo_relaxed.owl MONDO:0006234 True owl:Class MONDO:0001097 biolink:NamedThing obsolete juvenile glaucoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020367 True owl:Class MONDO:0010234 biolink:NamedThing obsolete body length, mouse, human homolog tmpte7i6ely_mondo_relaxed.owl body length, mouse, HUMAN homolog True owl:Class MONDO:0017358 biolink:NamedThing obsolete organic aciduria tmpte7i6ely_mondo_relaxed.owl MONDO:0000688 True owl:Class MONDO:0011293 biolink:NamedThing obsolete Homocysteinemia tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0004743 True https://github.com/monarch-initiative/mondo/issues/3247 owl:Class MONDO:0021684 biolink:NamedThing obsolete infectious disease of central nervous system tmpte7i6ely_mondo_relaxed.owl MONDO:0024619 True owl:Class dc:title biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003883 biolink:NamedThing obsolete cerebellar liponeurocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016728 True owl:Class MONDO:0002091 biolink:NamedThing obsolete cryptosporidiosis tmpte7i6ely_mondo_relaxed.owl MONDO:0015474 True owl:Class IAO:0000113 biolink:NamedThing in branch An annotation property indicating which module the terms belong to. This is currently experimental and not implemented yet. tmpte7i6ely_mondo_relaxed.owl OBI_0000277 in branch GROUP:OBI owl:AnnotationProperty MONDO:0005378 biolink:NamedThing obsolete neuromyelitis optica tmpte7i6ely_mondo_relaxed.owl MONDO:0019100 True owl:Class MONDO:0000435 biolink:NamedThing obsolete splenic marginal zone lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006431 True owl:Class MONDO:0005931 biolink:NamedThing obsolete progressive multifocal leukoencephalopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0016318 True owl:Class MONDO:0003162 biolink:NamedThing obsolete pilomyxoid astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016692 True owl:Class MONDO:0003270 biolink:NamedThing obsolete ganglioglioma tmpte7i6ely_mondo_relaxed.owl MONDO:0016733 True owl:Class IAO:0000124 biolink:NamedThing uncurated Nothing done yet beyond assigning a unique class ID and proposing a preferred term. tmpte7i6ely_mondo_relaxed.owl uncurated IAO:0000078 MONDO:0000542 biolink:NamedThing obsolete duodenum adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006187 True owl:Class MONDO:0005612 biolink:NamedThing obsolete ovarian leiomyosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003355 True owl:Class MONDO:0001267 biolink:NamedThing obsolete Lemierre syndrome tmpte7i6ely_mondo_relaxed.owl obsolete Lemierre's syndrome MONDO:0015306 True owl:Class MONDO:0013850 biolink:NamedThing obsolete periodic fever, menstrual cycle-dependent tmpte7i6ely_mondo_relaxed.owl MONDO:0044660 This term was a duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0000391 biolink:NamedThing obsolete Bethlem myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0008029 True owl:Class MONDO:0000223 biolink:NamedThing obsolete chikungunya tmpte7i6ely_mondo_relaxed.owl MONDO:0017941 True owl:Class MONDO:0012234 biolink:NamedThing obsolete LFS3 tmpte7i6ely_mondo_relaxed.owl MONDO:0007903 True owl:Class MONDO:0000201 biolink:NamedThing obsolete thyroid cancer, nonmedullary tmpte7i6ely_mondo_relaxed.owl MONDO:0017896 True owl:Class MONDO:0002992 biolink:NamedThing obsolete juvenile xanthogranuloma tmpte7i6ely_mondo_relaxed.owl MONDO:0015534 True owl:Class MONDO:0000185 biolink:NamedThing obsolete polyposis syndrome, hereditary mixed tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006083 biolink:NamedThing obsolete anaplastic large cell lymphoma, ALK-negative tmpte7i6ely_mondo_relaxed.owl MONDO:0017603 True owl:Class MONDO:0002777 biolink:NamedThing obsolete pleural empyema tmpte7i6ely_mondo_relaxed.owl MONDO:0018667 True owl:Class MONDO:0001826 biolink:NamedThing obsolete hypobetalipoproteinemia tmpte7i6ely_mondo_relaxed.owl MONDO:0017774 True owl:Class MONDO:0006136 biolink:NamedThing obsolete cervical endometrioid adenocarcinoma tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000576 biolink:NamedThing obsolete CD3delta deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0014280 True owl:Class MONDO:0006263 biolink:NamedThing obsolete Langerhans cell histiocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018310 True owl:Class MONDO:0000099 biolink:NamedThing obsolete trichoepithelioma, multiple familial tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006818 biolink:NamedThing obsolete keratoconjunctivitis sicca tmpte7i6ely_mondo_relaxed.owl MONDO:0006733 True owl:Class MONDO:0002826 biolink:NamedThing obsolete tuberculosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018076 True owl:Class MONDO:0002157 biolink:NamedThing obsolete fallopian tube carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006206 True owl:Class MONDO:0006099 biolink:NamedThing obsolete B-cell prolymphocytic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019461 True owl:Class MONDO:0005443 biolink:NamedThing obsolete type 2 diabetes nephropathy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0005016 True https://github.com/monarch-initiative/mondo/issues/3277 owl:Class MONDO:0004072 biolink:NamedThing obsolete protoplasmic astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016687 True owl:Class MONDO:0011394 biolink:NamedThing obsolete keratosis pilaris atrophicans tmpte7i6ely_mondo_relaxed.owl MONDO:0018855 True owl:Class MONDO:0003146 biolink:NamedThing obsolete ependymoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016715 True owl:Class MONDO:0012356 biolink:NamedThing obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008073 True https://github.com/monarch-initiative/mondo/issues/1880 owl:Class MONDO:0000326 biolink:NamedThing obsolete lissencephaly tmpte7i6ely_mondo_relaxed.owl MONDO:0018838 True owl:Class MONDO:0006064 biolink:NamedThing obsolete lactose intolerance tmpte7i6ely_mondo_relaxed.owl MONDO:0009116 True owl:Class MONDO:0002288 biolink:NamedThing obsolete ovarian cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0016245 True owl:Class MONDO:0005721 biolink:NamedThing obsolete coxsackievirus infectious disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0000241 True https://github.com/monarch-initiative/mondo/issues/3205 owl:Class MONDO:0002292 biolink:NamedThing obsolete granular cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006235 True owl:Class MONDO:0018238 biolink:NamedThing obsolete rare bone disease related to a common gene or pathway defect tmpte7i6ely_mondo_relaxed.owl MONDO:0005381 This is a grouping term that is probably not used clinically. True https://github.com/monarch-initiative/mondo/issues/1726 owl:Class MONDO:0002391 biolink:NamedThing obsolete skin sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006414 True owl:Class MONDO:0020171 biolink:NamedThing obsolete palpebral tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0002235 True owl:Class MONDO:0004284 biolink:NamedThing obsolete malignant cystic nephroma tmpte7i6ely_mondo_relaxed.owl obsoleted as cystic neprhomas are benign True owl:Class MONDO:0000120 biolink:NamedThing obsolete ectopia lentis, isolated tmpte7i6ely_mondo_relaxed.owl MONDO:0015998 True owl:Class MONDO:0005158 biolink:NamedThing obsolete coronary heart disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005010 True owl:Class MONDO:0024486 biolink:NamedThing obsolete familial chronic mucocutaneous candidiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0015279 True owl:Class MONDO:0020079 biolink:NamedThing obsolete plasma cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0004959 True owl:Class MONDO:0012070 biolink:NamedThing obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G tmpte7i6ely_mondo_relaxed.owl MONDO:0013753 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1701 owl:Class MONDO:0003526 biolink:NamedThing obsolete lung giant cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006275 True owl:Class MONDO:0001980 biolink:NamedThing obsolete Wolman disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019148 True owl:Class MONDO:0006177 biolink:NamedThing obsolete cutaneous undifferentiated pleomorphic sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002141 True owl:Class MONDO:0006384 biolink:NamedThing obsolete primary effusion lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018842 True owl:Class MONDO:0011791 biolink:NamedThing obsolete deafness, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MONDO:0019588 True owl:Class MONDO:0000885 biolink:NamedThing obsolete cloacal exstrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0009774 True owl:Class MONDO:0001677 biolink:NamedThing obsolete Rift valley fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017880 True owl:Class MONDO:0018986 biolink:NamedThing obsolete leiomyosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005058 True owl:Class MONDO:0002820 biolink:NamedThing obsolete thyroid carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0015075 True owl:Class MONDO:0003127 biolink:NamedThing obsolete embryoma tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0005565 True https://github.com/monarch-initiative/mondo/issues/4206 owl:Class MONDO:0018057 biolink:NamedThing obsolete toxocariasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005988 True owl:Class MONDO:0002208 biolink:NamedThing obsolete vulva adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0024336 True owl:Class MONDO:0018966 biolink:NamedThing obsolete isolated growth hormone deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0000050 True owl:Class MONDO:0020350 biolink:NamedThing obsolete Miller-Fisher syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0005851 True owl:Class MONDO:0012632 biolink:NamedThing obsolete Alzheimer disease 15 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0011401 True https://github.com/monarch-initiative/mondo/issues/2767 owl:Class MONDO:0000031 biolink:NamedThing obsolete fatty liver disease, nonalcoholic tmpte7i6ely_mondo_relaxed.owl MONDO:0013209 True owl:Class MONDO:0022463 biolink:NamedThing obsolete anophthalmia megalocornea cardiopathy skeletal anomalies tmpte7i6ely_mondo_relaxed.owl MONDO:0015230 True owl:Class MONDO:0003101 biolink:NamedThing obsolete intraneural perineurioma tmpte7i6ely_mondo_relaxed.owl MONDO:0015032 True owl:Class MONDO:0003657 biolink:NamedThing obsolete methotrexate-associated lymphoproliferation tmpte7i6ely_mondo_relaxed.owl MONDO:0019483 True owl:Class MONDO:0002711 biolink:NamedThing obsolete angiolipoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006085 True owl:Class MONDO:0002557 biolink:NamedThing obsolete schwannomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0008075 True owl:Class MONDO:0100141 biolink:NamedThing obsolete moderate COVID-19 infection OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level. tmpte7i6ely_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0019090 biolink:NamedThing obsolete meconium aspiration syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0006851 True owl:Class MONDO:0009065 biolink:NamedThing obsolete cystinosis, nephropathic tmpte7i6ely_mondo_relaxed.owl MONDO:0100151 True https://github.com/monarch-initiative/mondo/issues/960 owl:Class MONDO:0007003 biolink:NamedThing obsolete twin-to-twin transfusion syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019805 True owl:Class MONDO:0005782 biolink:NamedThing obsolete HELLP syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008585 True owl:Class MONDO:0005390 biolink:NamedThing obsolete cardiac arrhythmia tmpte7i6ely_mondo_relaxed.owl MONDO:0007263 True owl:Class MONDO:0007978 biolink:NamedThing obsolete malignant mesothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006292 True owl:Class MONDO:0008539 biolink:NamedThing obsolete distal arthrogryposis type 10 tmpte7i6ely_mondo_relaxed.owl MONDO:0016675 True owl:Class MONDO:0010530 biolink:NamedThing obsolete anus, imperforate tmpte7i6ely_mondo_relaxed.owl MONDO:0001046 True owl:Class MONDO:0000002 biolink:NamedThing obsolete 46,XX sex reversal tmpte7i6ely_mondo_relaxed.owl MONDO:0009299 True owl:Class OBO:mondo#excluded_from_qc_check biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003974 biolink:NamedThing obsolete malignant triton tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0016757 True owl:Class MONDO:0015684 biolink:NamedThing obsolete malignant peritoneal mesothelioma tmpte7i6ely_mondo_relaxed.owl MONDO:0005512 True owl:Class MONDO:0002566 biolink:NamedThing obsolete complex regional pain syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019369 True owl:Class MONDO:0006310 biolink:NamedThing obsolete mucinuos carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004957 True owl:Class GO:0100025 biolink:NamedThing obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0003339 biolink:NamedThing obsolete hepatoerythropoietic porphyria tmpte7i6ely_mondo_relaxed.owl MONDO:0019799 True owl:Class MONDO:0015080 biolink:NamedThing obsolete thymic tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0005197 True owl:Class MONDO:0000738 biolink:NamedThing obsolete syndromic X-linked intellectual disability tmpte7i6ely_mondo_relaxed.owl MONDO:0020119 True owl:Class MONDO:0000867 biolink:NamedThing obsolete multiple pterygium syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0017415 True owl:Class MONDO:0014655 biolink:NamedThing obsolete Bethlem myopathy 2 tmpte7i6ely_mondo_relaxed.owl MONDO:0034022 duplicate True https://github.com/monarch-initiative/mondo/issues/2461 owl:Class MONDO:0001013 biolink:NamedThing obsolete fibrosclerosis of breast tmpte7i6ely_mondo_relaxed.owl MONDO:0006118 True owl:Class GO:0031933 biolink:NamedThing obsolete telomeric heterochromatin OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres. tmpte7i6ely_mondo_relaxed.owl telomeric chromatin True owl:Class GO:0044454 biolink:NamedThing obsolete nuclear chromosome part OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpte7i6ely_mondo_relaxed.owl GO:0000228 True owl:Class MONDO:0021725 biolink:NamedThing obsolete Abderhalden-Kaufmann-Lignac syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0100151 True owl:Class MONDO:0001069 biolink:NamedThing obsolete leukodystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0019046 True owl:Class MONDO:0013804 biolink:NamedThing obsolete intellectual disability, autosomal dominant 12 tmpte7i6ely_mondo_relaxed.owl MONDO:0007617 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1709 owl:Class MONDO:0007575 biolink:NamedThing obsolete erythrokeratodermia variabilis tmpte7i6ely_mondo_relaxed.owl MONDO:0017851 True owl:Class MONDO:0016585 biolink:NamedThing obsolete mansonelliasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005838 True owl:Class MONDO:0001489 biolink:NamedThing obsolete urticaria pigmentosa tmpte7i6ely_mondo_relaxed.owl MONDO:0019316 True owl:Class MONDO:0010935 biolink:NamedThing obsolete neuronopathy, distal hereditary motor, type 5A tmpte7i6ely_mondo_relaxed.owl MONDO:0015353 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/2354 owl:Class MONDO:0002079 biolink:NamedThing obsolete neuroendocrine tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0019496 True owl:Class MONDO:0000198 biolink:NamedThing obsolete linear skin defects with multiple congenital anomalies tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0034122 biolink:NamedThing obsolete NAD(P)HX epimerase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0014960 True owl:Class MONDO:0001450 biolink:NamedThing obsolete arachnoiditis tmpte7i6ely_mondo_relaxed.owl MONDO:0015304 True owl:Class MONDO:0000205 biolink:NamedThing obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0015989 biolink:NamedThing obsolete congenital valvular dysplasia tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010753 True https://github.com/monarch-initiative/mondo/issues/3085 owl:Class urn:swrl#C biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0024351 biolink:NamedThing obsolete familial pityriasis rubra pilaris tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008251 True https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0010513 biolink:NamedThing obsolete intellectual disability, X-linked, syndromic, Borck type tmpte7i6ely_mondo_relaxed.owl MONDO:0010258 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1693 owl:Class MONDO:0000526 biolink:NamedThing obsolete appendix carcinoid tumor OBSOLETE. A carcinoid tumor (disease) that involves the vermiform appendix. tmpte7i6ely_mondo_relaxed.owl MONDO:0006091 True owl:Class MONDO:0019070 biolink:NamedThing obsolete liposarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005060 True owl:Class MONDO:0018372 biolink:NamedThing obsolete osteonecrosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005380 True owl:Class MONDO:0000006 biolink:NamedThing obsolete alopecia-mental retardation syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0008657 biolink:NamedThing obsolete vibratory angioedema tmpte7i6ely_mondo_relaxed.owl MONDO:0007447 OMIM obsoleted this term and merged it with autosomal dominant vibratory urticaria. True https://github.com/monarch-initiative/mondo/issues/1684 owl:Class MONDO:0000443 biolink:NamedThing obsolete adenylosuccinase lyase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0007068 True owl:Class MONDO:0005702 biolink:NamedThing obsolete chromoblastomycosis OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. tmpte7i6ely_mondo_relaxed.owl MONDO:0015908 True owl:Class IAO:0000424 biolink:NamedThing expand expression to A macro expansion tag applied to an object property (or possibly a data property) which can be used by a macro-expansion engine to generate more complex expressions from simpler ones tmpte7i6ely_mondo_relaxed.owl expand expression to ObjectProperty: RO_0002104 Label: has plasma membrane part Annotations: IAO_0000424 "http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.org/obo/owl/GO#GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" Chris Mungall owl:AnnotationProperty MONDO:0006441 biolink:NamedThing obsolete T-cell prolymphocytic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019468 True owl:Class MONDO:0001599 biolink:NamedThing obsolete Mikulicz disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019191 True owl:Class urn:swrl#mf biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0012189 biolink:NamedThing obsolete Amish infantile epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018274 Obsoleted in the source ontologies. True https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082 owl:Class MONDO:0006148 biolink:NamedThing obsolete chronic neutrophilic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019451 True owl:Class MONDO:0016716 biolink:NamedThing obsolete medulloepithelioma of the central nervous system tmpte7i6ely_mondo_relaxed.owl MONDO:0003144 True owl:Class MONDO:0002690 biolink:NamedThing obsolete meningioma tmpte7i6ely_mondo_relaxed.owl MONDO:0016642 True owl:Class MONDO:0018275 biolink:NamedThing obsolete salt and pepper syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018274 This term was obsoleted from the source ontologies. True https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082 owl:Class MONDO:0006724 biolink:NamedThing obsolete desmoplastic small round cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0019373 True owl:Class MONDO:0006457 biolink:NamedThing obsolete thymoma type AB tmpte7i6ely_mondo_relaxed.owl MONDO:0016975 True owl:Class MONDO:0004362 biolink:NamedThing obsolete placenta disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005917 True owl:Class MONDO:0014964 biolink:NamedThing obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum tmpte7i6ely_mondo_relaxed.owl MONDO:0044646 True https://github.com/monarch-initiative/mondo/issues/1623 owl:Class MONDO:0007815 biolink:NamedThing obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0007818 True https://github.com/monarch-initiative/mondo/issues/3804 owl:Class MONDO:0015862 biolink:NamedThing obsolete embryonal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005440 True owl:Class MONDO:0002573 biolink:NamedThing obsolete pleomorphic rhabdomyosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017386 True owl:Class dc:publisher biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0017982 biolink:NamedThing obsolete humeroradial synostosis tmpte7i6ely_mondo_relaxed.owl MONDO:0009356 True owl:Class MONDO:0006293 biolink:NamedThing obsolete malignant mixed neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0005853 True owl:Class MONDO:0000725 biolink:NamedThing obsolete Simpson-Golabi-Behmel syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010731 True owl:Class IAO:0000603 biolink:NamedThing is allocated id range Relates an ontology IRI to an (inclusive) range of IRIs in an OBO name space. The range is give as, e.g. "IAO_0020000-IAO_0020999" tmpte7i6ely_mondo_relaxed.owl Add as annotation triples in the granting ontology is allocated id range PERSON:Alan Ruttenberg owl:AnnotationProperty MONDO:0007255 biolink:NamedThing obsolete colorectal cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0005575 True owl:Class MONDO:0014852 biolink:NamedThing obsolete palmoplantar carcinoma, multiple self-healing tmpte7i6ely_mondo_relaxed.owl MONDO:0014089 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1711 owl:Class MONDO:0000846 biolink:NamedThing obsolete craniodiaphyseal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0009031 True owl:Class MONDO:0004342 biolink:NamedThing obsolete osteoclast-like giant cell neoplasm of the pancreas tmpte7i6ely_mondo_relaxed.owl MONDO:0006479 True owl:Class MONDO:0018819 biolink:NamedThing obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009526 True owl:Class MONDO:0006425 biolink:NamedThing obsolete spinal chordoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002894 True owl:Class MONDO:0020719 biolink:NamedThing obsolete susceptibility to Hirschsprung disease tmpte7i6ely_mondo_relaxed.owl HSCR MONDO:0018309 True owl:Class MONDO:0005415 biolink:NamedThing obsolete acute lung injury tmpte7i6ely_mondo_relaxed.owl MONDO:0015796 True owl:Class MONDO:0000077 biolink:NamedThing obsolete nystagmus tmpte7i6ely_mondo_relaxed.owl obsolete nystagmus (disease) obsolete nystagmus (disease) MONDO:0005712 True owl:Class MONDO:0006371 biolink:NamedThing obsolete pineocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016723 True owl:Class MONDO:0002596 biolink:NamedThing obsolete chordoma tmpte7i6ely_mondo_relaxed.owl MONDO:0008978 True owl:Class MONDO:0002575 biolink:NamedThing obsolete prostate rhabdomyosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006389 True owl:Class MONDO:0018313 biolink:NamedThing obsolete uveal melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006486 True owl:Class MONDO:0002980 biolink:NamedThing obsolete myofibroma tmpte7i6ely_mondo_relaxed.owl MONDO:0006312 True owl:Class MONDO:0029146 biolink:NamedThing obsolete Saul-Wilson syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019407 True owl:Class MONDO:0001755 biolink:NamedThing obsolete vaginal carcinosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006488 True owl:Class MONDO:0000356 biolink:NamedThing obsolete Walker-Warburg syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019523 True owl:Class MONDO:0000635 biolink:NamedThing obsolete osteoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018936 True owl:Class GO:0051196 biolink:NamedThing obsolete regulation of coenzyme metabolic process OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpte7i6ely_mondo_relaxed.owl regulation of coenzyme and prosthetic group metabolic process|regulation of coenzyme and prosthetic group metabolism|regulation of coenzyme metabolism True owl:Class MONDO:0003228 biolink:NamedThing obsolete myelodysplastic/myeloproliferative neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0006311 True owl:Class MONDO:0003224 biolink:NamedThing obsolete spindle cell hemangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0016222 True owl:Class MONDO:0005955 biolink:NamedThing obsolete scrub typhus tmpte7i6ely_mondo_relaxed.owl MONDO:0019365 True owl:Class MONDO:0012281 biolink:NamedThing obsolete sarcoidosis, early-onset tmpte7i6ely_mondo_relaxed.owl MONDO:0008523 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1703 owl:Class MONDO:0000403 biolink:NamedThing obsolete organ system cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0004992 True owl:Class MONDO:0003489 biolink:NamedThing obsolete middle ear squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006303 True owl:Class GO:0100036 biolink:NamedThing obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0018568 biolink:NamedThing obsolete COG2-CDG tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0054559 True https://github.com/monarch-initiative/mondo/issues/2923 owl:Class MONDO:0005038 biolink:NamedThing obsolete genetic disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0003847 True owl:Class MONDO:0004029 biolink:NamedThing obsolete ureter small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006482 True owl:Class MONDO:0006253 biolink:NamedThing obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant tmpte7i6ely_mondo_relaxed.owl MONDO:0004278 True owl:Class MONDO:0006768 biolink:NamedThing obsolete gastric outlet obstruction OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. tmpte7i6ely_mondo_relaxed.owl MONDO:0001561 True owl:Class MONDO:0005162 biolink:NamedThing obsolete influenza infection tmpte7i6ely_mondo_relaxed.owl MONDO:0005812 True owl:Class MONDO:0003711 biolink:NamedThing obsolete malignant peripheral nerve sheath tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0017827 True owl:Class MONDO:0018415 biolink:NamedThing obsolete hymenolepiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005802 True owl:Class MONDO:0002673 biolink:NamedThing obsolete dermatofibrosarcoma protuberans tmpte7i6ely_mondo_relaxed.owl MONDO:0011934 True owl:Class MONDO:0003456 biolink:NamedThing obsolete bile duct mucinous cystic neoplasm tmpte7i6ely_mondo_relaxed.owl See Bile Duct Cystadenoma DOID:5469|UMLS:C1334253|NCIT:C37215 True owl:Class MONDO:0009023 biolink:NamedThing obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum tmpte7i6ely_mondo_relaxed.owl MONDO:0000902 True owl:Class MONDO:0000228 biolink:NamedThing obsolete Astrakhan spotted fever tmpte7i6ely_mondo_relaxed.owl MONDO:0005677 True owl:Class MONDO:0000523 biolink:NamedThing obsolete conjunctival nevus tmpte7i6ely_mondo_relaxed.owl MONDO:0006172 True owl:Class MONDO:0006461 biolink:NamedThing obsolete thyroid gland carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0015075 True owl:Class MONDO:0002600 biolink:NamedThing obsolete mixed germ cell cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0015864 True owl:Class MONDO:0000767 biolink:NamedThing obsolete nut midline carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005563 True owl:Class MONDO:0001961 biolink:NamedThing obsolete glossopharyngeal neuralgia tmpte7i6ely_mondo_relaxed.owl MONDO:0016372 True owl:Class MONDO:0022605 biolink:NamedThing obsolete brachymetapody anodontia hypotrichosis albinoidism tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008884 True https://github.com/monarch-initiative/mondo/issues/3687 owl:Class MONDO:0001486 biolink:NamedThing obsolete Vogt-Koyanagi-Harada disease tmpte7i6ely_mondo_relaxed.owl MONDO:0018092 True owl:Class IAO:0000002 biolink:NamedThing example to be eventually removed tmpte7i6ely_mondo_relaxed.owl example to be eventually removed IAO:0000078 MONDO:0000905 biolink:NamedThing obsolete cortisone reductase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0000193 True owl:Class MONDO:0002315 biolink:NamedThing obsolete hereditary spastic paraplegia tmpte7i6ely_mondo_relaxed.owl MONDO:0019064 True owl:Class MONDO:0020700 biolink:NamedThing obsolete microcephaly, short stature, and impaired glucose metabolism tmpte7i6ely_mondo_relaxed.owl MONDO:0000208 True owl:Class MONDO:0000861 biolink:NamedThing obsolete tubular aggregate myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0008051 True owl:Class MONDO:0001963 biolink:NamedThing obsolete cerebral degeneration disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005559 True owl:Class GO:0044438 biolink:NamedThing obsolete microbody part OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). tmpte7i6ely_mondo_relaxed.owl GO:0042579 True owl:Class MONDO:0000830 biolink:NamedThing obsolete Waldenstroem's macroglobulinemia tmpte7i6ely_mondo_relaxed.owl MONDO:0007926 True owl:Class MONDO:0000269 biolink:NamedThing obsolete inhalation anthrax tmpte7i6ely_mondo_relaxed.owl MONDO:0016595 True owl:Class MONDO:0005234 biolink:NamedThing obsolete polymyositis tmpte7i6ely_mondo_relaxed.owl MONDO:0019127 True owl:Class MONDO:0000423 biolink:NamedThing obsolete coenzyme Q10 deficiency disease tmpte7i6ely_mondo_relaxed.owl MONDO:0018151 True owl:Class MONDO:0006296 biolink:NamedThing obsolete mast cell sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019024 True owl:Class MONDO:0018707 biolink:NamedThing obsolete clear cell sarcoma of kidney tmpte7i6ely_mondo_relaxed.owl MONDO:0005006 True owl:Class MONDO:0018331 biolink:NamedThing obsolete rare genetic dystonia tmpte7i6ely_mondo_relaxed.owl MONDO:0044807 True owl:Class MONDO:0005633 biolink:NamedThing obsolete acute disseminated encephalomyelitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019383 True owl:Class GO:0044448 biolink:NamedThing obsolete cell cortex part OBSOLETE. Any constituent part of the cell cortex, the region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpte7i6ely_mondo_relaxed.owl GO:0005938 True owl:Class MONDO:0000264 biolink:NamedThing obsolete Pontiac fever tmpte7i6ely_mondo_relaxed.owl MONDO:0020487 True owl:Class MONDO:0003577 biolink:NamedThing obsolete cribriform carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006176 True owl:Class MONDO:0005337 biolink:NamedThing obsolete neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:0005244 True owl:Class MONDO:0003213 biolink:NamedThing obsolete ampulla of vater carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006080 True owl:Class MONDO:0006775 biolink:NamedThing obsolete haemophilus influenzae meningitis tmpte7i6ely_mondo_relaxed.owl MONDO:0000889 True owl:Class MONDO:0012616 biolink:NamedThing obsolete MRT8 tmpte7i6ely_mondo_relaxed.owl MONDO:0013676 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1706 owl:Class MONDO:0015865 biolink:NamedThing obsolete benign tumor of fallopian tubes tmpte7i6ely_mondo_relaxed.owl MONDO:0000645 True owl:Class MONDO:0002215 biolink:NamedThing obsolete atypical teratoid rhabdoid tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0020560 True owl:Class MONDO:0013494 biolink:NamedThing obsolete PSMNSW tmpte7i6ely_mondo_relaxed.owl MONDO:0100226 Replacing this with a non-mendelian form of this disease. True https://github.com/monarch-initiative/mondo/issues/2083 owl:Class MONDO:0006454 biolink:NamedThing obsolete thymic squamous cell carcinoma OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. tmpte7i6ely_mondo_relaxed.owl MONDO:0003493 True owl:Class MONDO:0018099 biolink:NamedThing obsolete Whipple disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005116 True owl:Class MONDO:0021051 biolink:NamedThing obsolete hemophagocytic syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015540 True owl:Class MONDO:0100142 biolink:NamedThing obsolete severe COVID-19 infection OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%. tmpte7i6ely_mondo_relaxed.owl Not a disease http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0026754 biolink:NamedThing obsolete histidinuria-renal tubular defect syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009346 True owl:Class MONDO:0000419 biolink:NamedThing obsolete 3-Methylcrotonyl-CoA carboxylase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0018950 True owl:Class MONDO:0004818 biolink:NamedThing obsolete benign neurilemmoma tmpte7i6ely_mondo_relaxed.owl MONDO:0002546 True owl:Class MONDO:0004722 biolink:NamedThing obsolete Wiskott-Aldrich syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010518 True owl:Class MONDO:0016261 biolink:NamedThing obsolete sarcoma of the corpus uteri tmpte7i6ely_mondo_relaxed.owl MONDO:0005210 True owl:Class MONDO:0002893 biolink:NamedThing obsolete chondroid chordoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006145 True owl:Class MONDO:0006501 biolink:NamedThing obsolete inflammatory skin disease tmpte7i6ely_mondo_relaxed.owl MONDO:0002406 Duplicate True https://github.com/monarch-initiative/mondo/issues/377 owl:Class MONDO:0002499 biolink:NamedThing obsolete astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019781 True owl:Class MONDO:0000655 biolink:NamedThing obsolete heavy chain disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019464 True owl:Class MONDO:0000177 biolink:NamedThing obsolete laryngeal abductor paralysis tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0003324 biolink:NamedThing obsolete stromal predominant kidney Wilms' tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006432 True owl:Class MONDO:0004154 biolink:NamedThing obsolete central nervous system embryonal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018843 True owl:Class MONDO:0000123 biolink:NamedThing obsolete factor V and Factor VIII, combined deficiency of tmpte7i6ely_mondo_relaxed.owl MONDO:0018175 True owl:Class MONDO:0005924 biolink:NamedThing obsolete pneumocystosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019121 True owl:Class MONDO:0003703 biolink:NamedThing obsolete uterine corpus leiomyomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0003704 True owl:Class MONDO:0014279 biolink:NamedThing obsolete arrhythmogenic right ventricular dysplasia, familial, 13 tmpte7i6ely_mondo_relaxed.owl MONDO:0000908 True owl:Class MONDO:0003179 biolink:NamedThing obsolete lacrimal gland adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006262 True owl:Class MONDO:0003119 biolink:NamedThing obsolete histiocytoid hemangioma tmpte7i6ely_mondo_relaxed.owl MONDO:0021169 True owl:Class MONDO:0000057 biolink:NamedThing obsolete medullary cystic kidney disease tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0018867 biolink:NamedThing obsolete maple syrup urine disease tmpte7i6ely_mondo_relaxed.owl MONDO:0009563 True owl:Class MONDO:0005703 biolink:NamedThing obsolete Churg-Strauss syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015943 True owl:Class MONDO:0002835 biolink:NamedThing obsolete papillary transitional carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006350 True owl:Class MONDO:0000442 biolink:NamedThing obsolete paramyloidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0007100 True owl:Class MONDO:0002609 biolink:NamedThing obsolete gangliosidosis GM1 tmpte7i6ely_mondo_relaxed.owl MONDO:0018149 True owl:Class MONDO:0010724 biolink:NamedThing obsolete RP6 tmpte7i6ely_mondo_relaxed.owl MONDO:0000910 True owl:Class rdfs:seeAlso biolink:NamedThing seeAlso tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2000/01/rdf-schema#seeAlso True True seeAlso owl:AnnotationProperty MONDO:0005622 biolink:NamedThing obsolete vasculitis tmpte7i6ely_mondo_relaxed.owl MONDO:0018882 True owl:Class MONDO:0017253 biolink:NamedThing obsolete anterior uveitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006651 True owl:Class MONDO:0006334 biolink:NamedThing obsolete ovarian embryonal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003581 True owl:Class MONDO:0000289 biolink:NamedThing obsolete selective IgM deficiency disease tmpte7i6ely_mondo_relaxed.owl MONDO:0018039 True owl:Class MONDO:0011447 biolink:NamedThing obsolete epilepsy, familial focal, with variable foci tmpte7i6ely_mondo_relaxed.owl MONDO:0000215 True owl:Class MONDO:0001425 biolink:NamedThing obsolete Rett syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010726 True owl:Class MONDO:0011388 biolink:NamedThing obsolete cervical cancer tmpte7i6ely_mondo_relaxed.owl cervical cancer True owl:Class MONDO:0006852 biolink:NamedThing obsolete meningococcal meningitis tmpte7i6ely_mondo_relaxed.owl MONDO:0018059 True owl:Class GO:0051186 biolink:NamedThing obsolete cofactor metabolic process OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate. tmpte7i6ely_mondo_relaxed.owl cofactor metabolism True owl:Class MONDO:0019564 biolink:NamedThing obsolete systemic sclerosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005100 True owl:Class MONDO:0015058 biolink:NamedThing obsolete Waterhouse-Friderichsen syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0006015 True owl:Class MONDO:0005368 biolink:NamedThing obsolete obsessive-compulsive disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0008114 True owl:Class MONDO:0000522 biolink:NamedThing obsolete inflammatory myofibroblastic tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0015798 True owl:Class MONDO:0023052 biolink:NamedThing obsolete ectrodactyly polydactyly tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0009156 True https://github.com/monarch-initiative/mondo/issues/2864 owl:Class MONDO:0019030 biolink:NamedThing obsolete Acanthamoeba keratitis tmpte7i6ely_mondo_relaxed.owl MONDO:0005629 True owl:Class dc:creator biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0100007 biolink:NamedThing obsolete chronic inflammatory demyelinating polyneuropathy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0006702 True https://github.com/monarch-initiative/mondo/issues/3697 owl:Class MONDO:0004171 biolink:NamedThing obsolete congenital epulis tmpte7i6ely_mondo_relaxed.owl MONDO:0015528 True owl:Class MONDO:0000084 biolink:NamedThing obsolete pigmented nodular adrenocortical disease tmpte7i6ely_mondo_relaxed.owl MONDO:0015999 True owl:Class MONDO:0000431 biolink:NamedThing obsolete mantle cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018876 True owl:Class MONDO:0018176 biolink:NamedThing obsolete polymicrogyria tmpte7i6ely_mondo_relaxed.owl MONDO:0000087 True owl:Class GO:0000988 biolink:NamedThing obsolete transcription factor activity, protein binding OBSOLETE. Binding to a protein or protein complex, to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well. tmpte7i6ely_mondo_relaxed.owl protein binding transcription factor activity|transcription factor activity GO:0005515|GO:0140110 True owl:Class MONDO:0005245 biolink:NamedThing obsolete testicular seminoma tmpte7i6ely_mondo_relaxed.owl obsolete testicular seminoma (disease) obsolete testicular seminoma (disease) MONDO:0003669 True owl:Class MONDO:0002560 biolink:NamedThing obsolete junctional epidermolysis bullosa tmpte7i6ely_mondo_relaxed.owl MONDO:0017612 True owl:Class MONDO:0000753 biolink:NamedThing obsolete omphalocele tmpte7i6ely_mondo_relaxed.owl MONDO:0019015 True owl:Class MONDO:0018518 biolink:NamedThing obsolete adenocarcinoma of the anal canal tmpte7i6ely_mondo_relaxed.owl MONDO:0002735 True owl:Class MONDO:0015676 biolink:NamedThing obsolete hyperandrogenism due to cortisone reductase deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0000193 True owl:Class MONDO:0008144 biolink:NamedThing obsolete osteochondritis dissecans tmpte7i6ely_mondo_relaxed.owl MONDO:0017178 True owl:Class dc:language biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002985 biolink:NamedThing obsolete pustulosis of palm and sole tmpte7i6ely_mondo_relaxed.owl MONDO:0015597 True owl:Class MONDO:0001550 biolink:NamedThing obsolete Duane retraction syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007473 True owl:Class MONDO:0020330 biolink:NamedThing obsolete classic Hodgkin lymphoma, lymphocyte-depleted type tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0004620 True https://github.com/monarch-initiative/mondo/issues/2981 owl:Class MONDO:0019343 biolink:NamedThing obsolete mixed connective tissue disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005854 True owl:Class MONDO:0003074 biolink:NamedThing obsolete familial retinoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018160 True owl:Class MONDO:0000063 biolink:NamedThing obsolete molybdenum cofactor deficiency tmpte7i6ely_mondo_relaxed.owl molybdenum cofactor deficiency|obsolete molybdenum cofactor deficiency (disease) obsolete molybdenum cofactor deficiency (disease) MONDO:0020480 HP:0003570 True owl:Class GO:0100021 biolink:NamedThing obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport. tmpte7i6ely_mondo_relaxed.owl regulation of iron ion import by transcription from RNA polymerase II promoter True owl:Class MONDO:0004246 biolink:NamedThing obsolete lymphatic system disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005833 True owl:Class MONDO:0000364 biolink:NamedThing obsolete severe congenital neutropenia tmpte7i6ely_mondo_relaxed.owl MONDO:0018542 True owl:Class MONDO:0014463 biolink:NamedThing obsolete microcephaly, short stature, and impaired glucose metabolism tmpte7i6ely_mondo_relaxed.owl MONDO:0000208 True owl:Class MONDO:0019279 biolink:NamedThing obsolete alopecia tmpte7i6ely_mondo_relaxed.owl MONDO:0004907 True owl:Class MONDO:0000260 biolink:NamedThing obsolete Kartagener syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016575 True owl:Class MONDO:0004061 biolink:NamedThing obsolete mitochondrial myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0009637 True owl:Class MONDO:0005951 biolink:NamedThing obsolete sarcocystosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018903 True owl:Class MONDO:0000851 biolink:NamedThing obsolete achondrogenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0019648 True owl:Class MONDO:0015460 biolink:NamedThing obsolete adrenocortical carcinoma OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. tmpte7i6ely_mondo_relaxed.owl MONDO:0006639 True owl:Class MONDO:0024404 biolink:NamedThing obsolete meningitis caused by anaerobic bacteria tmpte7i6ely_mondo_relaxed.owl MONDO:0002000 True owl:Class MONDO:0022495 biolink:NamedThing obsolete arthritis short stature deafness tmpte7i6ely_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 GARD:0000775 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0000533 biolink:NamedThing obsolete vaginal carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0015867 True owl:Class MONDO:0007714 biolink:NamedThing obsolete migraine, familial hemiplegic, 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0020756|MONDO:0000700 True owl:Class MONDO:0002608 biolink:NamedThing obsolete gangliosidosis GM2 tmpte7i6ely_mondo_relaxed.owl MONDO:0017720 True owl:Class MONDO:0000838 biolink:NamedThing obsolete chromosomal disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019040 True owl:Class MONDO:0002005 biolink:NamedThing obsolete acrodysostosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019797 True owl:Class GO:0044455 biolink:NamedThing obsolete mitochondrial membrane part OBSOLETE. Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpte7i6ely_mondo_relaxed.owl GO:0031966 True owl:Class MONDO:0000017 biolink:NamedThing obsolete deafness, autosomal recessive tmpte7i6ely_mondo_relaxed.owl MONDO:0011791 True owl:Class MONDO:0005064 biolink:NamedThing obsolete infectious meningitis tmpte7i6ely_mondo_relaxed.owl MONDO:0004796 True owl:Class MONDO:0005795 biolink:NamedThing obsolete histoplasmosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018312 True owl:Class MONDO:0011859 biolink:NamedThing obsolete distal myopathy with early respiratory muscle involvement tmpte7i6ely_mondo_relaxed.owl MONDO:0011362 Obsoleted in Orphanet. True https://github.com/monarch-initiative/mondo/issues/2208 owl:Class MONDO:0000847 biolink:NamedThing obsolete pycnodysostosis tmpte7i6ely_mondo_relaxed.owl MONDO:0009940 True owl:Class MONDO:0000101 biolink:NamedThing obsolete tumoral calcinosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018891 True owl:Class MONDO:0004740 biolink:NamedThing obsolete hyperlysinemia tmpte7i6ely_mondo_relaxed.owl MONDO:0009388 True owl:Class dc:relation biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000692 biolink:NamedThing obsolete Kleine-Levin syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007863 True owl:Class MONDO:0003536 biolink:NamedThing obsolete fallopian tube serous adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006208 True owl:Class MONDO:0000068 biolink:NamedThing obsolete mucolipidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0019248 True owl:Class MONDO:0002302 biolink:NamedThing obsolete acromegaly tmpte7i6ely_mondo_relaxed.owl MONDO:0019933 True owl:Class MONDO:0000080 biolink:NamedThing obsolete Oto-palato-digital syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0010704 See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.". True owl:Class MONDO:0000016 biolink:NamedThing obsolete coronary heart disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005010 True owl:Class MONDO:0006449 biolink:NamedThing obsolete testicular yolk sac tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0003402 True owl:Class CL:0000243 biolink:NamedThing obsolete glial cell (sensu Vertebrata) A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear. tmpte7i6ely_mondo_relaxed.owl This is a grouping class that is no longer needed or wanted. True cell https://github.com/obophenotype/cell-ontology/issues/715 owl:Class MONDO:0006529 biolink:NamedThing obsolete bullous skin disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019337 True owl:Class MONDO:0019221 biolink:NamedThing obsolete creatine deficiency syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0000456 True owl:Class MONDO:0005577 biolink:NamedThing obsolete narcolepsy without cataplexy tmpte7i6ely_mondo_relaxed.owl MONDO:0019371 True owl:Class MONDO:0000287 biolink:NamedThing obsolete Lambert-Eaton myasthenic syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018556 True owl:Class MONDO:0018427 biolink:NamedThing obsolete fibrolamellar carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006210 True owl:Class MONDO:0000008 biolink:NamedThing obsolete bare lymphocyte syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class IAO:0000123 biolink:NamedThing metadata incomplete Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors. tmpte7i6ely_mondo_relaxed.owl metadata incomplete IAO:0000078 MONDO:0021044 biolink:NamedThing obsolete Wilms tumor OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. tmpte7i6ely_mondo_relaxed.owl MONDO:0006058 True owl:Class MONDO:0006870 biolink:NamedThing obsolete noma tmpte7i6ely_mondo_relaxed.owl MONDO:0017124 True owl:Class MONDO:0000058 biolink:NamedThing obsolete melanoma, cutaneous malignant tmpte7i6ely_mondo_relaxed.owl MONDO:0024462 True owl:Class MONDO:0015251 biolink:NamedThing obsolete balantidiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005662 True owl:Class MONDO:0000092 biolink:NamedThing obsolete pyloric stenosis, infantile tmpte7i6ely_mondo_relaxed.owl MONDO:0001560 True owl:Class MONDO:0000484 biolink:NamedThing obsolete oromandibular dystonia tmpte7i6ely_mondo_relaxed.owl MONDO:0019771 True owl:Class MONDO:0000020 biolink:NamedThing obsolete elliptocytosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017319 True owl:Class MONDO:0019382 biolink:NamedThing obsolete Colorado tick fever tmpte7i6ely_mondo_relaxed.owl MONDO:0005708 True owl:Class GO:0098679 biolink:NamedThing obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate catabloism. tmpte7i6ely_mondo_relaxed.owl regulation of carbohydrate catabolism by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0003063 biolink:NamedThing obsolete hydranencephaly tmpte7i6ely_mondo_relaxed.owl MONDO:0016344 True owl:Class MONDO:0011769 biolink:NamedThing obsolete familial aortic dissection tmpte7i6ely_mondo_relaxed.owl MONDO:0019625 True https://github.com/monarch-initiative/mondo/issues/408 owl:Class MONDO:0018466 biolink:NamedThing obsolete hereditary late onset Parkinson disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008199 These two terms are equivalent: 'late-onset Parkinson disease' is a child of the OMIM phenotypic series 'Parkinson disease', which is an inherited form of the disease, so the class 'late-onset Parkinson disease' inherits the hereditary form. True https://github.com/monarch-initiative/mondo/issues/3776 owl:Class GO:2001273 biolink:NamedThing obsolete regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus. tmpte7i6ely_mondo_relaxed.owl regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0021937 biolink:NamedThing obsolete Asrar Facharzt Haque syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0011273 True owl:Class MONDO:0010059 biolink:NamedThing obsolete spinal muscular atrophy, type I, with congenital bone fractures tmpte7i6ely_mondo_relaxed.owl MONDO:0014806 OMIM merged these records. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0044808 biolink:NamedThing obsolete early onset primary dystonia tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0007492 True https://github.com/monarch-initiative/mondo/issues/2809 owl:Class MONDO:0005243 biolink:NamedThing obsolete Cushing syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0018912 True owl:Class MONDO:0006568 biolink:NamedThing obsolete Kimura disease tmpte7i6ely_mondo_relaxed.owl MONDO:0018830 True owl:Class MONDO:0005735 biolink:NamedThing obsolete dracunculiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0016472 True owl:Class MONDO:0018619 biolink:NamedThing obsolete hyperinsulinemic hypoglycaemia tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0005803 True https://github.com/monarch-initiative/mondo/issues/3649 owl:Class IAO:0000103 biolink:NamedThing failed exploratory term The term was used in an attempt to structure part of the ontology but in retrospect failed to do a good job tmpte7i6ely_mondo_relaxed.owl failed exploratory term Person:Alan Ruttenberg|Person:Alan Ruttenberg owl:NamedIndividual MONDO:0000472 biolink:NamedThing obsolete rheumatic heart disease tmpte7i6ely_mondo_relaxed.owl MONDO:0006955 True owl:Class MONDO:0004011 biolink:NamedThing obsolete familial melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018961 True owl:Class GO:0097458 biolink:NamedThing obsolete neuron part OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpte7i6ely_mondo_relaxed.owl CL:0000540 True owl:Class MONDO:0000096 biolink:NamedThing obsolete pulmonary surfactant metabolism dysfunction tmpte7i6ely_mondo_relaxed.owl SMDP MONDO:0012580 OMIM series 265120. True owl:Class MONDO:0004776 biolink:NamedThing obsolete infectious anterior uveitis tmpte7i6ely_mondo_relaxed.owl MONDO:0017210 True owl:Class MONDO:0005018 biolink:NamedThing obsolete diffuse large B-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018905 True owl:Class MONDO:0011324 biolink:NamedThing obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss tmpte7i6ely_mondo_relaxed.owl MONDO:0008885 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1699 owl:Class MONDO:0003566 biolink:NamedThing obsolete choroid plexus carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016718 True owl:Class MONDO:0006331 biolink:NamedThing obsolete ovarian carcinosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0003792 True owl:Class MONDO:0003807 biolink:NamedThing obsolete follicular thyroid adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005032 True owl:Class MONDO:0015754 biolink:NamedThing obsolete cylindrical spirals myopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0008058 True owl:Class MONDO:0014988 biolink:NamedThing obsolete 3-methylglutaconic aciduria, type VIII tmpte7i6ely_mondo_relaxed.owl MONDO:0044723 Duplicate True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0006448 biolink:NamedThing obsolete testicular teratoma (disease) tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0018193 True https://github.com/monarch-initiative/mondo/issues/3286 owl:Class MONDO:0019184 biolink:NamedThing obsolete ankylostomiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005645 True owl:Class MONDO:0004870 biolink:NamedThing obsolete diabetic neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:0006626 True owl:Class MONDO:0018526 biolink:NamedThing obsolete serous cystadenocarcinoma of pancreas tmpte7i6ely_mondo_relaxed.owl MONDO:0003630 True owl:Class MONDO:0002231 biolink:NamedThing obsolete malignant ovarian germ cell neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0018171 True owl:Class MONDO:0015563 biolink:NamedThing obsolete blue cone monochromatism tmpte7i6ely_mondo_relaxed.owl MONDO:0010563 True owl:Class MONDO:0004798 biolink:NamedThing obsolete Sheehan syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019618 True owl:Class MONDO:0018622 biolink:NamedThing obsolete nut midline carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005563 True owl:Class MONDO:0000116 biolink:NamedThing obsolete cortical dysplasia, complex, with other brain malformations tmpte7i6ely_mondo_relaxed.owl MONDO:0000904 True owl:Class MONDO:0016465 biolink:NamedThing obsolete multiple intestinal atresia tmpte7i6ely_mondo_relaxed.owl MONDO:0009465 True owl:Class MONDO:0004073 biolink:NamedThing obsolete dentin dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0015613 True owl:Class MONDO:0005444 biolink:NamedThing obsolete leishmaniasis tmpte7i6ely_mondo_relaxed.owl MONDO:0011989 True owl:Class MONDO:0019055 biolink:NamedThing obsolete mitochondrial disease tmpte7i6ely_mondo_relaxed.owl MONDO:0004069 True owl:Class MONDO:0019057 biolink:NamedThing obsolete rare constitutional aplastic anemia tmpte7i6ely_mondo_relaxed.owl MONDO:0001713 True owl:Class MONDO:0010701 biolink:NamedThing obsolete opticoacoustic nerve atrophy with dementia tmpte7i6ely_mondo_relaxed.owl MONDO:0010578 True owl:Class MONDO:0000052 biolink:NamedThing obsolete leukodystrophy, hypomyelinating tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0019089 biolink:NamedThing obsolete adult acute respiratory distress syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0006502 True owl:Class MONDO:0000072 biolink:NamedThing obsolete myopathy, reducing body, X-linked tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0002784 biolink:NamedThing obsolete craniopharyngioma tmpte7i6ely_mondo_relaxed.owl MONDO:0006175 True owl:Class MONDO:0014812 biolink:NamedThing obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0018820 True https://github.com/monarch-initiative/mondo/issues/3089 owl:Class MONDO:0000691 biolink:NamedThing obsolete pain disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0021668 True owl:Class MONDO:0000094 biolink:NamedThing obsolete spherocytosis tmpte7i6ely_mondo_relaxed.owl obsolete spherocytosis (disease)|spherocytosis obsolete spherocytosis (disease) HP:0004444 True owl:Class MONDO:0018691 biolink:NamedThing obsolete endometrioid carcinoma of ovary tmpte7i6ely_mondo_relaxed.owl MONDO:0006335 True owl:Class MONDO:0044969 biolink:NamedThing obsolete disease of membrane bound organelle tmpte7i6ely_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class MONDO:0000623 biolink:NamedThing obsolete organ system benign neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0005165 True owl:Class MONDO:0003416 biolink:NamedThing obsolete hemoglobin E disease tmpte7i6ely_mondo_relaxed.owl MONDO:0016243 True owl:Class MONDO:0019459 biolink:NamedThing obsolete myeloid sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006861 True owl:Class urn:swrl#B biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable IAO:0010000 biolink:NamedThing has axiom label tmpte7i6ely_mondo_relaxed.owl Person:Alan Ruttenberg has axiom id A URI that is intended to be unique label for an axiom used for tracking change to the ontology. For an axiom expressed in different languages, each expression is given the same URI Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0000560 biolink:NamedThing obsolete spinocerebellar ataxia type 4 tmpte7i6ely_mondo_relaxed.owl MONDO:0010847 True owl:Class MONDO:0021153 biolink:NamedThing obsolete genetic and acquired tmpte7i6ely_mondo_relaxed.owl somatic genetic True owl:Class MONDO:0003485 biolink:NamedThing obsolete colon squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018513 True owl:Class GO:0035947 biolink:NamedThing obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of glucose biosynthesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by regulation of transcription from Pol II promoter True owl:Class MONDO:0004807 biolink:NamedThing obsolete Loeffler syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019122 True owl:Class MONDO:0003440 biolink:NamedThing obsolete bladder flat intraepithelial lesion tmpte7i6ely_mondo_relaxed.owl MONDO:0006111 True owl:Class MONDO:0004018 biolink:NamedThing obsolete liver carcinoma OBSOLETE. A carcinoma that involves the liver. tmpte7i6ely_mondo_relaxed.owl MONDO:0007256 True owl:Class MONDO:0003247 biolink:NamedThing obsolete pineal parenchymal tumor of intermediate differentiation tmpte7i6ely_mondo_relaxed.owl MONDO:0006369 True owl:Class MONDO:0008360 biolink:NamedThing obsolete radioulnar synostosis tmpte7i6ely_mondo_relaxed.owl obsolete radioulnar synostosis (disease) obsolete radioulnar synostosis (disease) MONDO:0017985 True owl:Class MONDO:0006236 biolink:NamedThing obsolete granular cell tumor of the neurohypophysis tmpte7i6ely_mondo_relaxed.owl MONDO:0003256 True owl:Class MONDO:0000556 biolink:NamedThing obsolete autosomal recessive cerebellar ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0015244 True owl:Class urn:swrl#a1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0005088 biolink:NamedThing obsolete rheumatoid arthritis tmpte7i6ely_mondo_relaxed.owl MONDO:0008383 True owl:Class MONDO:0000808 biolink:NamedThing obsolete hepatoid adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006243 True owl:Class MONDO:0016324 biolink:NamedThing obsolete hypertrophic cardiomyopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0005045 True owl:Class MONDO:0002502 biolink:NamedThing obsolete giant cell glioblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016682 True owl:Class IAO:0000600 biolink:NamedThing elucidation tmpte7i6ely_mondo_relaxed.owl Person:Barry Smith elucidation Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms person:Alan Ruttenberg owl:AnnotationProperty MONDO:0000189 biolink:NamedThing obsolete Schindler disease tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000046 biolink:NamedThing obsolete hypouricemia, renal tmpte7i6ely_mondo_relaxed.owl See text of OMIM 220150, does not include 307830. True owl:Class MONDO:0005226 biolink:NamedThing obsolete acute basophilic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019458 True owl:Class MONDO:0004793 biolink:NamedThing obsolete uterine corpus cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0006003 True owl:Class MONDO:0019273 biolink:NamedThing obsolete porokeratosis tmpte7i6ely_mondo_relaxed.owl MONDO:0006602 True owl:Class MONDO:0000143 biolink:NamedThing obsolete multiple mitochondrial dysfunctions syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0002161 biolink:NamedThing obsolete fallopian tube carcinosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006207 True owl:Class MONDO:0020564 biolink:NamedThing obsolete well-differentiated liposarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005103 True owl:Class MONDO:0044227 biolink:NamedThing obsolete dimples, facial tmpte7i6ely_mondo_relaxed.owl dimples, FACIAL|smiling dimples|cheek dimples OMIM:126100 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0019592 biolink:NamedThing obsolete disorder of sex development OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. tmpte7i6ely_mondo_relaxed.owl MONDO:0002145 True owl:Class MONDO:0003375 biolink:NamedThing obsolete uterus leiomyosarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016262 True owl:Class MONDO:0000097 biolink:NamedThing obsolete thyroid dyshormonogenesis tmpte7i6ely_mondo_relaxed.owl True owl:Class GO:0044420 biolink:NamedThing obsolete extracellular matrix component OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants). tmpte7i6ely_mondo_relaxed.owl extracellular matrix part GO:0031012 True owl:Class MONDO:0021570 biolink:NamedThing obsolete Hauptmann-Thannhauser muscular dystrophy tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0021569 True https://github.com/monarch-initiative/mondo/issues/55 owl:Class MONDO:0018517 biolink:NamedThing obsolete obsolete carcinoma of the anal canal tmpte7i6ely_mondo_relaxed.owl MONDO:0007108 True owl:Class urn:swrl#in biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0018859 biolink:NamedThing obsolete Leigh disease tmpte7i6ely_mondo_relaxed.owl MONDO:0009723 True owl:Class MONDO:0019163 biolink:NamedThing obsolete pseudoxanthoma elasticum tmpte7i6ely_mondo_relaxed.owl MONDO:0009925 True owl:Class MONDO:0002151 biolink:NamedThing obsolete dysostosis tmpte7i6ely_mondo_relaxed.owl MONDO:0018234 True owl:Class MONDO:0005760 biolink:NamedThing obsolete fibroepithelial neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0021045 True owl:Class MONDO:0016265 biolink:NamedThing obsolete endometrial stromal sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006745 True owl:Class MONDO:0000246 biolink:NamedThing obsolete la Crosse encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0019378 True owl:Class MONDO:0000564 biolink:NamedThing obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009133 True owl:Class MONDO:0004589 biolink:NamedThing obsolete hereditary retinal dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0019118 True owl:Class MONDO:0000883 biolink:NamedThing obsolete myeloid neoplasms associated with PDGFRB rearrangement tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0015690 True https://github.com/monarch-initiative/mondo/issues/3845 owl:Class MONDO:0000007 biolink:NamedThing obsolete atypical Mycobacteriosis, familial tmpte7i6ely_mondo_relaxed.owl OMIM 209950 lists 300636 and 300645 as other types of this disease. True owl:Class MONDO:0018522 biolink:NamedThing obsolete acinar cell carcinoma of pancreas tmpte7i6ely_mondo_relaxed.owl MONDO:0006346 True owl:Class urn:swrl#w biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0005457 biolink:NamedThing obsolete acute stress reaction tmpte7i6ely_mondo_relaxed.owl MONDO:0003763 True owl:Class MONDO:0018074 biolink:NamedThing obsolete American trypanosomiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0001444 True owl:Class MONDO:0009834 biolink:NamedThing obsolete pancreatic insufficiency, combined exocrine tmpte7i6ely_mondo_relaxed.owl MONDO:0009479 True owl:Class MONDO:0009410 biolink:NamedThing obsolete Addison disease tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0015129 True https://github.com/monarch-initiative/mondo/issues/1218 owl:Class MONDO:0000220 biolink:NamedThing obsolete anterior segment dysgenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0019503 True owl:Class urn:swrl#g1 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004908 biolink:NamedThing obsolete galactosemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018116 True owl:Class MONDO:0020080 biolink:NamedThing obsolete histiocytic and dendritic cell tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006247 True owl:Class MONDO:0006127 biolink:NamedThing obsolete cecum villous adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0000525 True owl:Class MONDO:0003483 biolink:NamedThing obsolete gastric squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006230 True owl:Class GO:0006733 biolink:NamedThing obsolete oxidoreduction coenzyme metabolic process OBSOLETE. The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed. tmpte7i6ely_mondo_relaxed.owl oxidoreduction coenzyme metabolism True owl:Class https://w3id.org/biodatamodels/gff/start biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty GO:0044463 biolink:NamedThing obsolete cell projection part OBSOLETE. Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpte7i6ely_mondo_relaxed.owl GO:0042995 True owl:Class MONDO:0003344 biolink:NamedThing obsolete hemangioblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016748 True owl:Class MONDO:0001278 biolink:NamedThing obsolete adult respiratory distress syndrome OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. tmpte7i6ely_mondo_relaxed.owl MONDO:0006502 True owl:Class MONDO:0000880 biolink:NamedThing obsolete lupus nephritis tmpte7i6ely_mondo_relaxed.owl MONDO:0005556 True owl:Class MONDO:0003961 biolink:NamedThing obsolete cervical large cell neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006138 True owl:Class MONDO:0035369 biolink:NamedThing obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0032705 True https://github.com/monarch-initiative/mondo/issues/3542 owl:Class MONDO:0017125 biolink:NamedThing obsolete oculofaciocardiodental syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0010261 True https://github.com/monarch-initiative/mondo/issues/2691 owl:Class MONDO:0000146 biolink:NamedThing obsolete progeroid syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0015333 True owl:Class MONDO:0100411 biolink:NamedThing obsolete acute myeloid leukemia, NPM1 gene mutation tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0044923 True https://github.com/monarch-initiative/mondo/issues/3583 owl:Class urn:swrl#eff biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006867 biolink:NamedThing obsolete neovascular glaucoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019783 True owl:Class MONDO:0004692 biolink:NamedThing obsolete choledochal cyst tmpte7i6ely_mondo_relaxed.owl MONDO:0018805 True owl:Class OIO:id biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty GO:0044459 biolink:NamedThing obsolete plasma membrane part OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpte7i6ely_mondo_relaxed.owl GO:0005886 True owl:Class MONDO:0003099 biolink:NamedThing obsolete endophthalmitis tmpte7i6ely_mondo_relaxed.owl MONDO:0016047 True owl:Class MONDO:0002390 biolink:NamedThing obsolete ossifying fibromyxoid tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0006330 True owl:Class MONDO:0006113 biolink:NamedThing obsolete bladder small cell neuroendocrine carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004114 True owl:Class MONDO:0005024 biolink:NamedThing obsolete emphysema tmpte7i6ely_mondo_relaxed.owl MONDO:0004849 True owl:Class MONDO:0002686 biolink:NamedThing obsolete mast-cell sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019024 True owl:Class MONDO:0006070 biolink:NamedThing obsolete acute leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0010643 True owl:Class MONDO:0000717 biolink:NamedThing obsolete acrofrontofacionasal dysostosis tmpte7i6ely_mondo_relaxed.owl MONDO:0008715 True owl:Class MONDO:0020498 biolink:NamedThing obsolete Lassa fever tmpte7i6ely_mondo_relaxed.owl MONDO:0005820 True owl:Class OIO:is_inferred biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0018478 biolink:NamedThing obsolete primary hyperoxaluria tmpte7i6ely_mondo_relaxed.owl MONDO:0002474 True owl:Class MONDO:0018985 biolink:NamedThing obsolete trench fever tmpte7i6ely_mondo_relaxed.owl MONDO:0005991 True owl:Class MONDO:0008033 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1B OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death. tmpte7i6ely_mondo_relaxed.owl MONDO:0021569 True owl:Class MONDO:0001102 biolink:NamedThing obsolete chronic endophthalmitis tmpte7i6ely_mondo_relaxed.owl MONDO:0017203 True owl:Class MONDO:0015992 biolink:NamedThing obsolete progressive cone dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0000455 True owl:Class MONDO:0002349 biolink:NamedThing obsolete agammaglobulinemia tmpte7i6ely_mondo_relaxed.owl MONDO:0015977 True owl:Class MONDO:0002417 biolink:NamedThing obsolete ethmoid sinus adenoid cystic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006201 True owl:Class MONDO:0009991 biolink:NamedThing obsolete Rh deficiency syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019107 True owl:Class MONDO:0019477 biolink:NamedThing obsolete angioimmunoblastic T-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0004977 True owl:Class GO:0072365 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of cellular ketone metabolism by negative regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0003418 biolink:NamedThing obsolete bile duct adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006108 True owl:Class MONDO:0015996 biolink:NamedThing obsolete systemic capillary leak syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0001956 True owl:Class dc:description biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003798 biolink:NamedThing obsolete epithelioid sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017387 True owl:Class MONDO:0000106 biolink:NamedThing obsolete apnea tmpte7i6ely_mondo_relaxed.owl obsolete apnea (disease)|apnea obsolete apnea (disease) True owl:Class MONDO:0044630 biolink:NamedThing obsolete rere-related neurodevelopmental syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0014857 True owl:Class MONDO:0006434 biolink:NamedThing obsolete Subependymoma tmpte7i6ely_mondo_relaxed.owl MONDO:0007667 True owl:Class MONDO:0003203 biolink:NamedThing obsolete pituitary carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017582 True owl:Class urn:swrl#p biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004536 biolink:NamedThing obsolete villoglandular variant cervical mucinous adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006141 True owl:Class MONDO:0000121 biolink:NamedThing obsolete emphysema tmpte7i6ely_mondo_relaxed.owl MONDO:0005024 True owl:Class MONDO:0000404 biolink:NamedThing obsolete cell type cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0004992 True owl:Class MONDO:0003207 biolink:NamedThing obsolete eccrine adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0024240 True owl:Class MONDO:0023303 biolink:NamedThing obsolete Hamanishi-Ueba-Tsuji syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008809 True owl:Class MONDO:0002210 biolink:NamedThing obsolete vulva squamous cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0024609 True owl:Class MONDO:0007731 biolink:NamedThing obsolete HLA modifier tmpte7i6ely_mondo_relaxed.owl HLA modifier OMIM:142770|UMLS:C1840550 True owl:Class MONDO:0001759 biolink:NamedThing obsolete patent foramen ovale tmpte7i6ely_mondo_relaxed.owl MONDO:0020439 True owl:Class MONDO:0000053 biolink:NamedThing obsolete macroglobulinemia, Waldenstrom tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0021150 biolink:NamedThing obsolete genetic characteristic tmpte7i6ely_mondo_relaxed.owl MONDO:0021152 True owl:Class MONDO:0016590 biolink:NamedThing obsolete collecting duct carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005220 True owl:Class MONDO:0018693 biolink:NamedThing obsolete kuru tmpte7i6ely_mondo_relaxed.owl MONDO:0006825 True owl:Class rdfs:comment biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006942 biolink:NamedThing obsolete reflex epilepsy tmpte7i6ely_mondo_relaxed.owl MONDO:0017768 True owl:Class MONDO:0018909 biolink:NamedThing obsolete legionellosis tmpte7i6ely_mondo_relaxed.owl MONDO:0005823 True owl:Class MONDO:0016597 biolink:NamedThing obsolete generalized pustular psoriasis tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0017099 biolink:NamedThing obsolete facioscapulohumeral dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0001347 True owl:Class MONDO:0000174 biolink:NamedThing obsolete split-hand/foot malformation with long bone deficiency tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0006725 biolink:NamedThing obsolete diabetic angiopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0000960 True owl:Class MONDO:0002364 biolink:NamedThing obsolete Wolffian duct adenoma tmpte7i6ely_mondo_relaxed.owl MONDO:0024889 True owl:Class MONDO:0017115 biolink:NamedThing obsolete bifid nose tmpte7i6ely_mondo_relaxed.owl MONDO:0000110 True owl:Class MONDO:0000124 biolink:NamedThing obsolete focal facial dermal dysplasia tmpte7i6ely_mondo_relaxed.owl MONDO:0018363 True owl:Class MONDO:0000907 biolink:NamedThing obsolete amelogenesis imperfecta type 1C tmpte7i6ely_mondo_relaxed.owl MONDO:0008770 True owl:Class MONDO:0000089 biolink:NamedThing obsolete age-related hearing impairment tmpte7i6ely_mondo_relaxed.owl MONDO:0005562 True owl:Class MONDO:0019968 biolink:NamedThing obsolete Osgood-Schlatter disease tmpte7i6ely_mondo_relaxed.owl MONDO:0004241 True owl:Class MONDO:0004783 biolink:NamedThing obsolete panhypopituitarism tmpte7i6ely_mondo_relaxed.owl MONDO:0019591 True owl:Class MONDO:0005241 biolink:NamedThing obsolete adrenocortical carcinoma tmpte7i6ely_mondo_relaxed.owl obsolete adrenocortical carcinoma (disease) obsolete adrenocortical carcinoma (disease) MONDO:0006639 True owl:Class MONDO:0004839 biolink:NamedThing obsolete neurofibroma tmpte7i6ely_mondo_relaxed.owl MONDO:0016755 True owl:Class MONDO:0001018 biolink:NamedThing obsolete lymphoblastic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0004967 True owl:Class MONDO:0001573 biolink:NamedThing obsolete Friedreich ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0009245 True owl:Class MONDO:0006503 biolink:NamedThing obsolete episodic ataxia tmpte7i6ely_mondo_relaxed.owl MONDO:0016227 True owl:Class IAO:0000602 biolink:NamedThing has associated axiom(fol) tmpte7i6ely_mondo_relaxed.owl Person:Alan Ruttenberg has associated axiom(fol) An axiom expressed in first order logic using CLIF syntax Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0006697 biolink:NamedThing obsolete Chlamydophila infectious disease tmpte7i6ely_mondo_relaxed.owl MONDO:0021697 True owl:Class MONDO:0018366 biolink:NamedThing obsolete mucinous adenocarcinoma of ovary tmpte7i6ely_mondo_relaxed.owl MONDO:0005601 True owl:Class MONDO:0019379 biolink:NamedThing obsolete st. Louis encephalitis tmpte7i6ely_mondo_relaxed.owl MONDO:0005969 True owl:Class MONDO:0000765 biolink:NamedThing obsolete corneal stromal dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0020213 True owl:Class MONDO:0016895 biolink:NamedThing obsolete partial monosomy of the short arm of chromosome 17 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0022754 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0003269 biolink:NamedThing obsolete subependymal giant cell astrocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0016693 True owl:Class MONDO:0000047 biolink:NamedThing obsolete immunodeficiency with hyper-IgM tmpte7i6ely_mondo_relaxed.owl MONDO:0003947 True owl:Class MONDO:0015952 biolink:NamedThing obsolete genetic neurodegenerative disease tmpte7i6ely_mondo_relaxed.owl MONDO:0024237 True owl:Class MONDO:0019166 biolink:NamedThing obsolete strongyloidiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0005974 True owl:Class urn:swrl#x biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0015373 biolink:NamedThing obsolete Saldino-Mainzer syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009964 True https://github.com/monarch-initiative/mondo/issues/1624 owl:Class MONDO:0014315 biolink:NamedThing obsolete Mitchell-Riley syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0017400 True https://github.com/monarch-initiative/mondo/issues/3099 owl:Class MONDO:0001968 biolink:NamedThing obsolete 46 XY gonadal dysgenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0010765 True owl:Class MONDO:0006240 biolink:NamedThing obsolete hemangiopericytic neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0002789 True owl:Class MONDO:0000186 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia with joint laxity tmpte7i6ely_mondo_relaxed.owl MONDO:0019675 True owl:Class MONDO:0018049 biolink:NamedThing obsolete Kaposi sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0005055 True owl:Class MONDO:0006756 biolink:NamedThing obsolete extracutaneous mastocytoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019025 True owl:Class MONDO:0019566 biolink:NamedThing obsolete Klippel-Trenaunay syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0007864 True owl:Class MONDO:0002296 biolink:NamedThing obsolete glomus tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0018327 True owl:Class dct:conformsTo biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000300 biolink:NamedThing obsolete tungiasis tmpte7i6ely_mondo_relaxed.owl MONDO:0019498 True owl:Class MONDO:0008956 biolink:NamedThing obsolete congenital neuronal ceroid lipofuscinosis tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0009744 Terms were merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/2665 owl:Class MONDO:0004027 biolink:NamedThing obsolete embryonal cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0005564 True owl:Class MONDO:0044790 biolink:NamedThing obsolete congenital melanocytic nevus tmpte7i6ely_mondo_relaxed.owl MONDO:0044792 Obsoleted as was conflated with spitz nevus True owl:Class MONDO:0002126 biolink:NamedThing obsolete childhood absence epilepsy tmpte7i6ely_mondo_relaxed.owl MONDO:0010826 True owl:Class MONDO:0021720 biolink:NamedThing obsolete fetal alcohol spectrum disorders tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0000408 True https://github.com/monarch-initiative/mondo/issues/3393 owl:Class OIO:is_metadata_tag biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0016415 biolink:NamedThing obsolete immunodeficiency-centromeric instability-facial anomalies syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0000133 True owl:Class MONDO:0000622 biolink:NamedThing obsolete cell type benign neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0005165 True owl:Class OIO:hasAlternativeId biolink:NamedThing has_alternative_id tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:hasSynonymType biolink:NamedThing has_synonym_type tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003623 biolink:NamedThing obsolete pancreatic acinar cell adenocarcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006346 True owl:Class NCIT:P371 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0018970 biolink:NamedThing obsolete pemphigoid gestationis tmpte7i6ely_mondo_relaxed.owl MONDO:0006558 True owl:Class MONDO:0002823 biolink:NamedThing obsolete thyroid gland medullary carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0015277 True owl:Class MONDO:0003662 biolink:NamedThing obsolete endometrioid ovary carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006335 True owl:Class MONDO:0002024 biolink:NamedThing obsolete cholera tmpte7i6ely_mondo_relaxed.owl MONDO:0015766 True owl:Class MONDO:0002228 biolink:NamedThing obsolete malignant ovarian surface epithelial-stromal neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0018364 True owl:Class dc:identifier biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:consider biolink:NamedThing consider tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003527 biolink:NamedThing obsolete Ferguson-Smith tumor OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. tmpte7i6ely_mondo_relaxed.owl MONDO:0007566 True owl:Class MONDO:0006269 biolink:NamedThing obsolete liver inflammatory myofibroblastic tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0004726 True owl:Class MONDO:0004119 biolink:NamedThing obsolete endometrial small cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006197 True owl:Class MONDO:0000360 biolink:NamedThing obsolete 2-hydroxyglutaric aciduria tmpte7i6ely_mondo_relaxed.owl MONDO:0016001 True owl:Class OIO:inSubset biolink:NamedThing in_subset tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000852 biolink:NamedThing obsolete hypochondrogenesis tmpte7i6ely_mondo_relaxed.owl MONDO:0019669 True owl:Class MONDO:0000042 biolink:NamedThing obsolete hyperprolinemia tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0018726 biolink:NamedThing obsolete immunodeficiency due to a complement cascade component deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0003832 True owl:Class MONDO:0000854 biolink:NamedThing obsolete Stickler syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019354 True owl:Class MONDO:0000247 biolink:NamedThing obsolete hemophagocytic lymphohistiocytosis OBSOLETE. A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. tmpte7i6ely_mondo_relaxed.owl MONDO:0015540 True owl:Class OIO:hasSynonym biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005666 biolink:NamedThing obsolete berylliosis tmpte7i6ely_mondo_relaxed.owl MONDO:0015274 True owl:Class MONDO:0004576 biolink:NamedThing obsolete pellagra tmpte7i6ely_mondo_relaxed.owl MONDO:0019975 True owl:Class dc:rights biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002015 biolink:NamedThing obsolete brittle cornea syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009242 True owl:Class IAO:0000426 biolink:NamedThing first order logic expression tmpte7i6ely_mondo_relaxed.owl first order logic expression PERSON:Alan Ruttenberg owl:AnnotationProperty MONDO:0002593 biolink:NamedThing obsolete thymic carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0020515 True owl:Class MONDO:0007596 biolink:NamedThing obsolete factor VIII deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0010602 True owl:Class OBO:mondo#pathogenesis biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty BFO:0000180 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005343 biolink:NamedThing obsolete viral human hepatitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006011 True owl:Class MONDO:0002530 biolink:NamedThing obsolete malignant spindle cell melanoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006427 True owl:Class MONDO:0000392 biolink:NamedThing obsolete fetal alcohol syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0016011 True owl:Class MONDO:0003779 biolink:NamedThing obsolete gliomatosis cerebri tmpte7i6ely_mondo_relaxed.owl MONDO:0016683 True owl:Class MONDO:0000180 biolink:NamedThing obsolete inflammatory skin and bowel disease, neonatal tmpte7i6ely_mondo_relaxed.owl MONDO:0017411 True owl:Class MONDO:0004654 biolink:NamedThing obsolete pyomyositis tmpte7i6ely_mondo_relaxed.owl MONDO:0019168 True owl:Class MONDO:0015561 biolink:NamedThing obsolete aleukemic mast cell leukemia tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0020334 True https://github.com/monarch-initiative/mondo/issues/3084 owl:Class MONDO:0017911 biolink:NamedThing obsolete cleft lip/palate-ectodermal dysplasia syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0009151 True owl:Class MONDO:0002445 biolink:NamedThing obsolete hemoglobin c disease tmpte7i6ely_mondo_relaxed.owl MONDO:0016242 True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0060722 biolink:NamedThing obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities tmpte7i6ely_mondo_relaxed.owl MONDO:0013346 True owl:Class MONDO:0016388 biolink:NamedThing obsolete bone sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0021054 True owl:Class MONDO:0004023 biolink:NamedThing obsolete hepatoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018666 True owl:Class MONDO:0016339 biolink:NamedThing obsolete restrictive cardiomyopathy tmpte7i6ely_mondo_relaxed.owl MONDO:0005201 True owl:Class MONDO:0019331 biolink:NamedThing obsolete rare form of salmonellosis tmpte7i6ely_mondo_relaxed.owl MONDO:0000827 We want to remove rare X terms from Mondo. True https://github.com/monarch-initiative/mondo/issues/1747 owl:Class dc:contributor biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty IAO:0000120 biolink:NamedThing metadata complete Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete. tmpte7i6ely_mondo_relaxed.owl metadata complete IAO:0000078 MONDO:0000028 biolink:NamedThing obsolete epilepsy, hot water tmpte7i6ely_mondo_relaxed.owl MONDO:0013229 True owl:Class MONDO:0010766 biolink:NamedThing obsolete 46,XX sex reversal 1 tmpte7i6ely_mondo_relaxed.owl MONDO:0100250 Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045). True owl:Class MONDO:0000003 biolink:NamedThing obsolete 17-hydroxysteroid dehydrogenase deficiency tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0000506 biolink:NamedThing obsolete Caroli disease tmpte7i6ely_mondo_relaxed.owl MONDO:0010913 True owl:Class OIO:created_by biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000353 biolink:NamedThing obsolete Saldino-Noonan syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0019663 True owl:Class MONDO:0003919 biolink:NamedThing obsolete inherited metabolic disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0019052 True owl:Class MONDO:0018584 biolink:NamedThing obsolete placental insufficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0005919 True owl:Class MONDO:0000352 biolink:NamedThing obsolete hereditary sensory neuropathy tmpte7i6ely_mondo_relaxed.owl MONDO:0015364 True owl:Class MONDO:0002458 biolink:NamedThing obsolete acute pancreatitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006515 True owl:Class MONDO:0006084 biolink:NamedThing obsolete angioleiomyoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006646 True owl:Class MONDO:0000896 biolink:NamedThing obsolete chronic neutrophilic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0006148 True owl:Class MONDO:0006063 biolink:NamedThing obsolete carbohydrate metabolic disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0019214 True owl:Class OIO:hasExactSynonym biolink:NamedThing has_exact_synonym tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#a2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable http://geneontology.org/formats/oboInOwl#created_by biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002841 biolink:NamedThing obsolete eosinophilic gastroenteritis tmpte7i6ely_mondo_relaxed.owl MONDO:0016129 True owl:Class MONDO:0001669 biolink:NamedThing obsolete lung cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0008903 True owl:Class dct:license biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#A biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:hasDbXref biolink:NamedThing database_cross_reference tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005733 biolink:NamedThing obsolete dirofilariasis tmpte7i6ely_mondo_relaxed.owl MONDO:0015636 True owl:Class MONDO:0001348 biolink:NamedThing obsolete Lyme disease tmpte7i6ely_mondo_relaxed.owl MONDO:0019632 True owl:Class MONDO:0022434 biolink:NamedThing obsolete amelia cleft lip palate hydrocephalus iris coloboma tmpte7i6ely_mondo_relaxed.owl MONDO:0011052 True owl:Class MONDO:0022145 biolink:NamedThing obsolete Chiari malformation type II tmpte7i6ely_mondo_relaxed.owl MONDO:0008816 True owl:Class MONDO:0000113 biolink:NamedThing obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome tmpte7i6ely_mondo_relaxed.owl True owl:Class skos:broadMatch biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002248 biolink:NamedThing obsolete myeloproliferative neoplasm tmpte7i6ely_mondo_relaxed.owl MONDO:0020076 True owl:Class MONDO:0017367 biolink:NamedThing obsolete kindler syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0008260 True owl:Class OBO:mondo#should_conform_to biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000566 biolink:NamedThing obsolete substance withdrawal disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0005567 True owl:Class MONDO:0004590 biolink:NamedThing obsolete fundus dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0019118 True owl:Class MONDO:0022460 biolink:NamedThing obsolete anophthalmia cleft lip palate hypothalamic disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0010930 True owl:Class MONDO:0008804 biolink:NamedThing obsolete anus, imperforate tmpte7i6ely_mondo_relaxed.owl MONDO:0010530 True owl:Class ENVO:00002297 biolink:NamedThing obsolete environmental feature OBSOLETE A material entity which determines an environmental system. tmpte7i6ely_mondo_relaxed.owl True owl:Class MONDO:0001814 biolink:NamedThing obsolete patent ductus arteriosus tmpte7i6ely_mondo_relaxed.owl MONDO:0011827 True owl:Class MONDO:0019021 biolink:NamedThing obsolete pigmented villonodular synovitis tmpte7i6ely_mondo_relaxed.owl MONDO:0006906 True owl:Class MONDO:0010303 biolink:NamedThing obsolete colobomatous microphthalmia tmpte7i6ely_mondo_relaxed.owl MONDO:0000170 Duplicate. True https://github.com/monarch-initiative/mondo/issues/2533 owl:Class MONDO:0000998 biolink:NamedThing obsolete parotid disease tmpte7i6ely_mondo_relaxed.owl MONDO:0005899 True owl:Class MONDO:0003229 biolink:NamedThing obsolete lymphedema tmpte7i6ely_mondo_relaxed.owl MONDO:0019297 True owl:Class IAO:0000597 biolink:NamedThing has ID range allocated to Relates a datatype that encodes a range of integers to the name of the person or organization who can use those ids constructed in that range to define new terms tmpte7i6ely_mondo_relaxed.owl has ID range allocated Datatype: idrange:1 Annotations: 'has ID range allocated to': "Chris Mungall" EquivalentTo: xsd:integer[> 2151 , <= 2300] Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0020565 biolink:NamedThing obsolete adenocarcinoma of esophagus tmpte7i6ely_mondo_relaxed.owl MONDO:0005028 True owl:Class MONDO:0017883 biolink:NamedThing obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential tmpte7i6ely_mondo_relaxed.owl MONDO:0003010 True owl:Class MONDO:0000199 biolink:NamedThing obsolete familial adenomatous polyposis tmpte7i6ely_mondo_relaxed.owl MONDO:0021055 True owl:Class MONDO:0006495 biolink:NamedThing obsolete marginal zone B-cell lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0017604 True owl:Class MONDO:0009639 biolink:NamedThing obsolete mitochondrial myopathy with lactic acidosis tmpte7i6ely_mondo_relaxed.owl MONDO:0016825 True owl:Class MONDO:0019069 biolink:NamedThing obsolete rhabdoid tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0002728 True owl:Class dc:subject biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002384 biolink:NamedThing obsolete transitional cell carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006474 True owl:Class MONDO:0000658 biolink:NamedThing obsolete mu chain disease tmpte7i6ely_mondo_relaxed.owl MONDO:0015044 True owl:Class OBO:mondo#related biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004968 biolink:NamedThing obsolete acute myelomonocytic leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0018871 True owl:Class MONDO:0006242 biolink:NamedThing obsolete hepatoblastoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018666 True owl:Class MONDO:0020239 biolink:NamedThing obsolete color-vision disease tmpte7i6ely_mondo_relaxed.owl MONDO:0001703 True owl:Class MONDO:0006319 biolink:NamedThing obsolete nevus of Ota tmpte7i6ely_mondo_relaxed.owl MONDO:0016984 True owl:Class urn:swrl#z biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable GO:1900387 biolink:NamedThing obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion. tmpte7i6ely_mondo_relaxed.owl True owl:Class GO:0100018 biolink:NamedThing obsolete regulation of glucose import by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import. tmpte7i6ely_mondo_relaxed.owl True owl:Class skos:narrowMatch biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000191 biolink:NamedThing obsolete renal hypodysplasia/aplasia tmpte7i6ely_mondo_relaxed.owl True owl:Class owl:deprecated biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000278 biolink:NamedThing obsolete Bolivian hemorrhagic fever tmpte7i6ely_mondo_relaxed.owl MONDO:0017875 True owl:Class MONDO:0024289 biolink:NamedThing obsolete disorder of bilirubin metabolism tmpte7i6ely_mondo_relaxed.owl MONDO:0017755 True owl:Class RO:0001900 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0007613 biolink:NamedThing obsolete fibromuscular dysplasia of arteries tmpte7i6ely_mondo_relaxed.owl MONDO:0006761 True owl:Class MONDO:0044716 biolink:NamedThing obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome tmpte7i6ely_mondo_relaxed.owl MONDO:0030912 True owl:Class MONDO:0003451 biolink:NamedThing obsolete laryngeal neuroendocrine tumor tmpte7i6ely_mondo_relaxed.owl MONDO:0015070 True owl:Class ENVO:00003075 biolink:NamedThing obsolete anthropogenic abiotic mesoscopic feature tmpte7i6ely_mondo_relaxed.owl True owl:Class GO:0044429 biolink:NamedThing obsolete mitochondrial part OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. tmpte7i6ely_mondo_relaxed.owl mitochondrion component|mitochondrial subcomponent GO:0005739 True owl:Class MONDO:0002925 biolink:NamedThing obsolete extraosseous Ewing's sarcoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018270 True owl:Class MONDO:0000420 biolink:NamedThing obsolete cerebral folate receptor alpha deficiency tmpte7i6ely_mondo_relaxed.owl MONDO:0013110 True owl:Class GO:0072364 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpte7i6ely_mondo_relaxed.owl regulation of cellular ketone metabolic process by regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0000325 biolink:NamedThing obsolete pachyonychia congenita tmpte7i6ely_mondo_relaxed.owl MONDO:0016471 True owl:Class MONDO:0000311 biolink:NamedThing obsolete congenital hypothyroidism tmpte7i6ely_mondo_relaxed.owl MONDO:0018612 True owl:Class MONDO:0015750 biolink:NamedThing obsolete amelogenesis imperfecta-gingival hyperplasia syndrome tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0008771 Obsoleted in Orphanet and OMIM. True https://github.com/monarch-initiative/mondo/issues/3537 owl:Class MONDO:0003914 biolink:NamedThing obsolete inborn purine-pyrimidine metabolic disorder tmpte7i6ely_mondo_relaxed.owl MONDO:0019254 True owl:Class MONDO:0001738 biolink:NamedThing obsolete osteopetrosis tmpte7i6ely_mondo_relaxed.owl MONDO:0017198 True owl:Class MONDO:0005317 biolink:NamedThing obsolete fatty liver tmpte7i6ely_mondo_relaxed.owl MONDO:0004790 True owl:Class OBO:ro.owl#x biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004602 biolink:NamedThing obsolete polymyalgia rheumatica tmpte7i6ely_mondo_relaxed.owl MONDO:0019735 True owl:Class MONDO:0003217 biolink:NamedThing obsolete ureter carcinoma tmpte7i6ely_mondo_relaxed.owl MONDO:0006481 True owl:Class MONDO:0005587 biolink:NamedThing obsolete non-Hodgkins lymphoma tmpte7i6ely_mondo_relaxed.owl MONDO:0018908 True owl:Class MONDO:0000436 biolink:NamedThing obsolete T-cell large granular lymphocyte leukemia tmpte7i6ely_mondo_relaxed.owl MONDO:0019469 True owl:Class MONDO:0002607 biolink:NamedThing obsolete lymphangioleiomyomatosis tmpte7i6ely_mondo_relaxed.owl MONDO:0011705 True owl:Class MONDO:0016900 biolink:NamedThing obsolete partial deletion of the long arm of chromosome 1 tmpte7i6ely_mondo_relaxed.owl terms merged MONDO:0022756 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class urn:swrl#y biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0002611 biolink:NamedThing obsolete benign epilepsy with centrotemporal spikes tmpte7i6ely_mondo_relaxed.owl MONDO:0007295 True owl:Class MONDO:0006691 biolink:NamedThing obsolete causalgia tmpte7i6ely_mondo_relaxed.owl MONDO:0020572 True owl:Class IAO:0000599 biolink:NamedThing has ID prefix Relates an ontology used to record id policy to a prefix concatenated with an integer in the id range (left padded with "0"s to make this many digits) to construct an ID for a term being created. tmpte7i6ely_mondo_relaxed.owl has ID prefix Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0012026 biolink:NamedThing obsolete myotonia, potassium-aggravated tmpte7i6ely_mondo_relaxed.owl MONDO:0018959 True owl:Class http://protege.stanford.edu/plugins/owl/protege#defaultLanguage biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004912 biolink:NamedThing obsolete muscular dystrophy tmpte7i6ely_mondo_relaxed.owl MONDO:0020121 True owl:Class MONDO:0019363 biolink:NamedThing obsolete murine typhus tmpte7i6ely_mondo_relaxed.owl MONDO:0000330 True owl:Class MONDO:0003521 biolink:NamedThing obsolete VIPoma tmpte7i6ely_mondo_relaxed.owl MONDO:0019960 True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0020314 biolink:NamedThing obsolete refractory anemia tmpte7i6ely_mondo_relaxed.owl MONDO:0005272 True owl:Class dc:coverage biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#d biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:creation_date biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002827 biolink:NamedThing obsolete urinary system cancer tmpte7i6ely_mondo_relaxed.owl MONDO:0006295 True owl:Class urn:swrl#D biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:ro.owl#z biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable ENVO:01000010 biolink:NamedThing obsolete abiotic mesoscopic physical object tmpte7i6ely_mondo_relaxed.owl True owl:Class urn:swrl#e biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable skos:closeMatch biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty GO:0043902 biolink:NamedThing obsolete positive regulation of multi-organism process OBSOLETE. Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpte7i6ely_mondo_relaxed.owl True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:hasOBONamespace biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty dc:source biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty NCIT:A11 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:is_class_level biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty BFO:0000179 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty skos:exactMatch biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OBO:mondo#excluded_synonym biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty OIO:source biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#g2 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable owl:Nothing biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl owl:Class NCIT:C4905 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:CN207018 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0070027 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:331244 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C3810407 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:204152008 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/615237 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:251365 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl UMLS:C1832174 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/260200 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:405721006 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C99236 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:D018887 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/245340 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:8850 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:275543 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:59531002 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MESH:C564640 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/600559 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl MEDDRA:10036673 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl ORPHA:369 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:0060577 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl NCIT:C5441 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl SNOMEDCT:192644005 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:2581 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl DOID:3699 biolink:NamedThing tmpte7i6ely_mondo_relaxed.owl https://omim.org/entry/161600 biolink:NamedThing 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